504 504 GLU LYS ALCOHOL SENSITIVITY - ACUTE ALCOHOL DEPENDENCE - PROTECTION AGAINST - INCLUDED;; HANGOVER - SUSCEPTIBILITY TO - INCLUDED;; SUBLINGUAL NITROGLYCERIN - SUSCEPTIBILITY TO POOR RESPONSE TO - INCLUDED;; ESOPHAGEAL CANCER - ALCOHOL-RELATED - SUSCEPTIBILITY TO - INCLUDED ALDH2 - GLU504LYS (dbSNP rs671) 217 262 ASN LYS MYASTHENIC SYNDROME - CONGENITAL - SLOW-CHANNEL CHRNA1 - ASN217LYS 156 201 VAL MET MYASTHENIC SYNDROME - CONGENITAL - SLOW-CHANNEL CHRNA1 - VAL156MET 254 299 THR ILE MYASTHENIC SYNDROME - CONGENITAL - SLOW-CHANNEL CHRNA1 - THR254ILE 153 198 GLY SER MYASTHENIC SYNDROME - CONGENITAL - SLOW-CHANNEL CHRNA1 - GLY153SER 269 314 SER ILE MYASTHENIC SYNDROME - CONGENITAL - SLOW-CHANNEL CHRNA1 - SER269ILE 249 294 VAL PHE MYASTHENIC SYNDROME - CONGENITAL - SLOW-CHANNEL CHRNA1 - VAL249PHE 285 330 VAL ILE MYASTHENIC SYNDROME - CONGENITAL - FAST-CHANNEL CHRNA1 - VAL285ILE 233 278 PHE VAL MYASTHENIC SYNDROME - CONGENITAL - FAST-CHANNEL CHRNA1 - PHE233VAL 256 301 PHE LEU MYASTHENIC SYNDROME - CONGENITAL - FAST-CHANNEL CHRNA1 - PHE256LEU 132 177 VAL LEU MYASTHENIC SYNDROME - CONGENITAL - FAST-CHANNEL CHRNA1 - VAL132LEU 418 463 CYS TRP MYASTHENIC SYNDROME - CONGENITAL - SLOW-CHANNEL CHRNA1 - CYS418TRP 254 254 ARG LEU MULTIPLE PTERYGIUM SYNDROME - LETHAL TYPE CHRNA1 - ARG254LEU 266 328 VAL MET MYASTHENIC SYNDROME - CONGENITAL - SLOW-CHANNEL CHRNB1 - VAL266MET 263 325 LEU MET MYASTHENIC SYNDROME - CONGENITAL - SLOW-CHANNEL CHRNB1 - LEU263MET 268 289 SER PHE MYASTHENIC SYNDROME - CONGENITAL - SLOW-CHANNEL CHRND - SER268PHE 250 271 PRO GLN MYASTHENIC SYNDROME - CONGENITAL - FAST-CHANNEL CHRND - PRO250GLN 59 80 GLU LYS MYASTHENIC SYNDROME - CONGENITAL - FAST-CHANNEL CHRND - GLU59LYS 74 95 PHE LEU MULTIPLE PTERYGIUM SYNDROME - LETHAL TYPE CHRND - PHE74LEU 42 63 LEU PRO MYASTHENIC SYNDROME - CONGENITAL - FAST-CHANNEL CHRND - LEU42PRO 58 79 ILE LYS MYASTHENIC SYNDROME - CONGENITAL - FAST-CHANNEL CHRND - ILE58LYS 264 284 THR PRO MYASTHENIC SYNDROME - SLOW-CHANNEL CONGENITAL CHRNE - THR264PRO 269 289 LEU PHE MYASTHENIC SYNDROME - SLOW-CHANNEL CONGENITAL CHRNE - LEU269PHE 121 141 PRO LEU MYASTHENIC SYNDROME - FAST-CHANNEL CONGENITAL CHRNE - PRO121LEU 147 167 ARG LEU MYASTHENIC SYNDROME - CONGENITAL - ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY CHRNE - ARG147LEU 78 98 LEU PRO MYASTHENIC SYNDROME - SLOW-CHANNEL CONGENITAL - AUTOSOMAL RECESSIVE CHRNE - LEU78PRO 221 241 LEU PHE MYASTHENIC SYNDROME - SLOW-CHANNEL CONGENITAL CHRNE - LEU221PHE 311 331 ARG TRP MYASTHENIC SYNDROME - CONGENITAL - ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY CHRNE - ARG311TRP 143 163 SER LEU MYASTHENIC SYNDROME - CONGENITAL - FAST-CHANNEL CHRNE - SER143LEU 411 431 ALA PRO MYASTHENIC SYNDROME - CONGENITAL - FAST-CHANNEL CHRNE - ALA411PRO 217 341 ARG CYS ESCOBAR SYNDROME MULTIPLE PTERYGIUM SYNDROME - LETHAL TYPE - INCLUDED CHRNG - ARG217CYS 107 231 VAL GLY ESCOBAR SYNDROME MULTIPLE PTERYGIUM SYNDROME - LETHAL TYPE - INCLUDED CHRNG - 320T-G - VAL107GLY 322 322 HIS ASN YT BLOOD GROUP POLYMORPHISM ACHE - HIS322ASN 18 18 PRO THR CENTRAL HYPOVENTILATION SYNDROME - CONGENITAL ASCL1 - C52A - PRO18THR 312 314 ARG HIS CARDIOMYOPATHY - DILATED - 1R ACTC1 - ARG312HIS 361 363 GLU GLY CARDIOMYOPATHY - DILATED - 1R ACTC1 - GLU361GLY 295 297 ALA SER CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 11 ACTC1 - ALA295SER 90 90 HIS TYR CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 11 ACTC1 - HIS90TYR 123 125 MET VAL ATRIAL SEPTAL DEFECT 5 ACTC1 - MET123VAL 331 333 ALA PRO CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 11 ACTC1 - ALA331PRO 164 166 PRO ALA CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 11 ACTC1 - PRO164ALA 101 101 GLU LYS CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 11 LEFT VENTRICULAR NONCOMPACTION 4 - INCLUDED ACTC1 - GLU101LYS 89 89 THR ILE DEAFNESS - AUTOSOMAL DOMINANT 20 ACTG1 - THR89ILE 118 118 LYS MET DEAFNESS - AUTOSOMAL DOMINANT 20 ACTG1 - LYS118MET 332 332 PRO ALA DEAFNESS - AUTOSOMAL DOMINANT 20 ACTG1 - PRO332ALA 264 264 PRO LEU DEAFNESS - AUTOSOMAL DOMINANT 20 ACTG1 - PRO264LEU 278 278 THR ILE DEAFNESS - AUTOSOMAL DOMINANT 20 ACTG1 - THR278ILE 370 370 VAL ALA DEAFNESS - AUTOSOMAL DOMINANT 20 ACTG1 - VAL370ALA 118 118 LYS ASN DEAFNESS - AUTOSOMAL DOMINANT 20 ACTG1 - LYS118ASN 241 241 GLU LYS DEAFNESS - AUTOSOMAL DOMINANT 20 ACTG1 - GLU241LYS 9 9 GLN ARG CARDIOMYOPATHY - DILATED - 1AA ACTN2 - GLN9ARG 206 206 ARG HIS FIBRODYSPLASIA OSSIFICANS PROGRESSIVA ACVR1 - ARG206HIS 356 356 GLY ASP FIBRODYSPLASIA OSSIFICANS PROGRESSIVA ACVR1 - GLY356ASP 258 258 ARG SER FIBRODYSPLASIA OSSIFICANS PROGRESSIVA ACVR1 - ARG258SER 382 382 ARG TRP HYPER-IgE RECURRENT INFECTION SYNDROME - AUTOSOMAL DOMINANT STAT3 - ARG382TRP 382 382 ARG GLN HYPER-IgE RECURRENT INFECTION SYNDROME - AUTOSOMAL DOMINANT STAT3 - ARG382GLN 423 423 ARG GLN HYPER-IgE RECURRENT INFECTION SYNDROME - AUTOSOMAL DOMINANT STAT3 - ARG423GLN 383 383 ARG LEU HYPER-IgE RECURRENT INFECTION SYNDROME - AUTOSOMAL DOMINANT STAT3 - ARG383LEU 637 637 VAL MET HYPER-IgE RECURRENT INFECTION SYNDROME - AUTOSOMAL DOMINANT STAT3 - VAL637MET 136 136 MET THR APRT DEFICIENCY - JAPANESE TYPE APRT - MET136THR 65 65 ASP VAL APRT DEFICIENCY - COMPLETE - ICELANDIC TYPE APRT - ASP65VAL 110 110 LEU PRO APRT DEFICIENCY APRT - LEU110PRO 94 96 LEU PRO NEMALINE MYOPATHY 3 ACTA1 - LEU94PRO 115 117 ASN SER NEMALINE MYOPATHY 3 ACTA1 - ASN115SER 15 17 GLY ARG MYOPATHY - ACTIN - CONGENITAL - WITH EXCESS OF THIN MYOFILAMENTS ACTA1 - GLY15ARG 163 165 VAL LEU NEMALINE MYOPATHY 3 ACTA1 - VAL163LEU 259 261 GLU VAL NEMALINE MYOPATHY 3 ACTA1 - GLU259VAL 357 359 ILE LEU NEMALINE MYOPATHY 3 ACTA1 - ILE357LEU 268 270 GLY CYS NEMALINE MYOPATHY 3 ACTA1 - GLY268CYS 136 138 ILE MET NEMALINE MYOPATHY 3 ACTA1 - ILE136MET 1 3 ASP TYR MYOPATHY - ACTIN - CONGENITAL - WITH CORES ACTA1 - ASP1TYR 334 336 GLU ALA MYOPATHY - ACTIN - CONGENITAL - WITH CORES ACTA1 - GLU334ALA 292 294 ASP VAL MYOPATHY - CONGENITAL - WITH FIBER-TYPE DISPROPORTION ACTA1 - ASP292VAL 221 223 LEU PRO MYOPATHY - CONGENITAL - WITH FIBER-TYPE DISPROPORTION ACTA1 - LEU221PRO 332 334 PRO SER MYOPATHY - CONGENITAL - WITH FIBER-TYPE DISPROPORTION ACTA1 - PRO332SER 163 165 VAL MET NEMALINE MYOPATHY 3 ACTA1 - VAL163MET 74 74 GLU ASP NEMALINE MYOPATHY 3 ACTA1 - GLU74ASP AND HIS75TYR 75 75 HIS TYR NEMALINE MYOPATHY 3 ACTA1 - GLU74ASP AND HIS75TYR 149 149 ARG CYS AORTIC ANEURYSM - FAMILIAL THORACIC 6 ACTA2 - ARG149CYS 258 258 ARG HIS AORTIC ANEURYSM - FAMILIAL THORACIC 6 ACTA2 - ARG258HIS 258 258 ARG CYS AORTIC ANEURYSM - FAMILIAL THORACIC 6 ACTA2 - ARG258CYS 183 183 ARG TRP DYSTONIA - JUVENILE-ONSET ACTB - ARG183TRP 460 460 GLY TRP HYPERTENSION - SALT-SENSITIVE ESSENTIAL - SUSCEPTIBILITY TO ADD1 - GLY460TRP 48 48 PRO LEU MYOADENYLATE DEAMINASE DEFICIENCY - MYOPATHY DUE TO AMPD1 - GLN12TER - PRO48LEU 388 388 ARG TRP MYOADENYLATE DEAMINASE DEFICIENCY - MYOPATHY DUE TO AMPD1 - ARG388TRP 425 425 ARG HIS MYOADENYLATE DEAMINASE DEFICIENCY - MYOPATHY DUE TO AMPD1 - ARG425HIS 573 573 ARG CYS ERYTHROCYTE AMP DEAMINASE DEFICIENCY AMPD3 - ARG573CYS 128 128 ARG TRP ADENYLATE KINASE DEFICIENCY - HEMOLYTIC ANEMIA DUE TO AK1 - ARG128TRP 164 164 TYR CYS ADENYLATE KINASE DEFICIENCY - HEMOLYTIC ANEMIA DUE TO AK1 - TYR164CYS 40 40 GLY ARG ADENYLATE KINASE DEFICIENCY - HEMOLYTIC ANEMIA DUE TO AK1 - GLY40ARG 64 64 GLY ARG ADENYLATE KINASE DEFICIENCY - HEMOLYTIC ANEMIA DUE TO AK1 - GLY64ARG 1 1 MET VAL RETICULAR DYSGENESIS AK2 - MET1VAL 165 165 ASP GLY RETICULAR DYSGENESIS AK2 - ASP165GLY 186 186 ARG CYS RETICULAR DYSGENESIS AK2 - ARG186CYS 103 103 ARG TRP RETICULAR DYSGENESIS AK2 - ARG103TRP 114 114 ALA PRO PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS - AUTOSOMAL DOMINANT - 2 SLC25A4 - ALA114PRO 289 289 VAL MET PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS - AUTOSOMAL DOMINANT - 2 SLC25A4 - VAL289MET 98 98 LEU PRO PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS - AUTOSOMAL DOMINANT - 2 SLC25A4 - LEU98PRO 104 104 ASP GLY PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS - AUTOSOMAL DOMINANT - 2 SLC25A4 - ASP104GLY 123 123 ALA ASP CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC SLC25A4 - ALA123ASP 1709 1709 GLY ARG MYASTHENIA - LIMB-GIRDLE - FAMILIAL AGRN - GLY1709ARG 1 25 ASP VAL ALBUMIN BREMEN ALBUMIN BLENHEIM;; ALBUMIN IOWA CITY 2 ALB - ASP1VAL 3 27 HIS GLN ALBUMIN NAGASAKI 3 ALB - HIS3GLN 114 138 ARG GLY ALBUMIN YANOMAMA 2 ALB - ARG114GLY 119 143 GLU LYS ALBUMIN NAGOYA ALB - GLU119LYS 269 293 ASP GLY ALBUMIN NAGASAKI 1 ALBUMIN NIIGATA ALB - ASP269GLY 313 337 LYS ASN ALBUMIN NEW GUINEA ALBUMIN TAGLIACOZZO;; ALBUMIN COOPERSTOWN ALB - LYS313ASN 320 344 ALA THR ALBUMIN REDHILL ALB - ALA320THR AND ARG-2CYS 321 345 GLU LYS ALBUMIN ROMA ALB - GLU321LYS 354 378 GLU LYS ALBUMIN HIROSHIMA 1 ALB - GLU354LYS 358 382 GLU LYS ALBUMIN PORTO ALEGRE 1 ALBUMIN COARI 1 ALB - GLU358LYS 365 389 ASP HIS ALBUMIN PARKLANDS ALB - ASP365HIS 372 396 LYS GLU ALBUMIN MERSIN ALBUMIN NASKAPI;; ALBUMIN MEXICO 1 ALB - LYS372GLU 375 399 ASP ASN ALBUMIN NAGASAKI 2 ALB - ASP375ASN 376 400 GLU LYS ALBUMIN TOCHIGI ALB - GLU376LYS 382 406 GLU LYS ALBUMIN HIROSHIMA 2 ALB - GLU382LYS 501 525 GLU LYS ALBUMIN LAMBADI ALBUMIN MANAUS-1;; ALBUMIN VANCOUVER;; ALBUMIN BIRMINGHAM;; ALBUMIN ADANA;; ALBUMIN PORTO ALEGRE 2 ALB - GLU501LYS 541 565 LYS GLU ALBUMIN MAKU ALBUMIN ORIXIMINA-1 ALB - LYS541GLU 550 574 ASP GLY ALBUMIN MEXICO 2 ALB - ASP550GLY 563 587 ASP ASN ALBUMIN FUKUOKA 1 ALB - ASP563ASN 565 589 GLU LYS ALBUMIN OSAKA 1 ALB - GLU565LYS 570 594 GLU LYS ALBUMIN OSAKA 2 ALBUMIN PHNOM PENH;; ALBUMIN B;; ALBUMIN OLIPHANT;; ALBUMIN NAGANO;; ALBUMIN VERONA B ALB - GLU570LYS 573 597 LYS GLU ALBUMIN GHENT ALBUMIN MILANO FAST ALB - LYS573GLU 574 598 LYS ASN ALBUMIN VANVES ALB - LYS574ASN 536 560 LYS GLU ALBUMIN CASTEL DI SANGRO ALB - LYS536GLU 580 604 GLN LYS ALBUMIN GE/CT ALBUMIN CATANIA ALB - GLN580LYS 60 84 GLU LYS ALBUMIN TORINO ALB - GLU60LYS 82 106 GLU LYS ALBUMIN VIBO VALENTIA ALB - GLU82LYS 494 518 ASP ASN ALBUMIN CASEBROOK ALB - ASP494ASN 365 389 ASP VAL ALBUMIN IOWA CITY 1 ALB - ASP365VAL 128 152 HIS ARG ALBUMIN KOMAGOME 2 ALB - HIS128ARG 240 264 LYS GLU ALBUMIN HERBORN ALB - LYS240GLU 218 242 ARG HIS DYSALBUMINEMIC HYPERTHYROXINEMIA ALB - ARG218HIS 3 27 HIS TYR ALBUMIN LARINO ALB - HIS3TYR 225 249 LYS GLN ALBUMIN TRADATE 2 ALB - LYS225GLN 276 300 LYS ASN ALBUMIN CASERTA ALB - LYS276ASN 140 164 TYR CYS ALBUMIN ASOLA ALB - TYR140CYS 63 87 ASP ASN ALBUMIN MALMO 95 ALB - ASP63ASN 177 201 CYS PHE ALBUMIN HAWKES BAY ALB - CYS177PHE 268 292 GLN ARG ALBUMIN MALMO 10 ALB - GLN268ARG 318 342 ASN LYS ALBUMIN MALMO 47 ALB - ASN318LYS 333 357 GLU LYS ALBUMIN SONDRIA ALB - GLU333LYS 376 400 GLU ASN ALBUMIN MALMO 5 ALB - GLU376ASN 479 503 GLU LYS ALBUMIN DUBLIN ALB - GLU479LYS 505 529 GLU LYS ALBUMIN ORTONOVO ALB - GLU505LYS 218 242 ARG PRO DYSALBUMINEMIC HYPERTHYROXINEMIA ALB - ARG218PRO 66 90 LEU PRO DYSALBUMINEMIC HYPERTHYROXINEMIA ALB - LEU66PRO 48 48 ARG HIS ALCOHOL DEPENDENCE - PROTECTION AGAINST AERODIGESTIVE TRACT CANCER - SQUAMOUS CELL - ALCOHOL-RELATED - PROTECTION AGAINST - INCLUDED ADH1B - ARG48HIS - (dbSNP rs1229984) 370 370 ARG CYS ALCOHOL DEPENDENCE - PROTECTION AGAINST ADH1B - ARG370CYS 272 272 ARG GLN ALCOHOL DEPENDENCE - PROTECTION AGAINST ADH1C - ARG272GLN (dbSNP rs1693482) 350 350 ILE VAL ALCOHOL DEPENDENCE - PROTECTION AGAINST ADH1C - ILE350VAL (dbSNP rs698) 128 129 ASP GLY GLYCOGEN STORAGE DISEASE XII ALDOA - ASP128GLY 206 207 GLU LYS GLYCOGEN STORAGE DISEASE XII ALDOA - GLU206LYS 1000 1000 VAL ILE ALPHA-2-MACROGLOBULIN POLYMORPHISM ALZHEIMER DISEASE - SUSCEPTIBILITY TO - INCLUDED A2M - VAL1000ILE 972 972 CYS TYR ALPHA-2-MACROGLOBULIN POLYMORPHISM A2M - CYS972TYR 681 681 ARG HIS ALPHA-2-MACROGLOBULIN POLYMORPHISM A2M - ARG681HIS 325 325 GLU LYS SCHINDLER DISEASE - TYPE I NAGA - GLU325LYS 329 329 ARG TRP KANZAKI DISEASE NAGA - ARG329TRP 160 160 SER CYS SCHINDLER DISEASE - TYPE III NAGA - SER160CYS 329 329 ARG GLN KANZAKI DISEASE NAGA - ARG329GLN 146 146 MET LEU ALZHEIMER DISEASE - FAMILIAL - 3 PSEN1 - MET146LEU 163 163 HIS ARG ALZHEIMER DISEASE - FAMILIAL - 3 PSEN1 - HIS163ARG 246 246 ALA GLU ALZHEIMER DISEASE - FAMILIAL - 3 PSEN1 - ALA246GLU 286 286 LEU VAL ALZHEIMER DISEASE - FAMILIAL - 3 PSEN1 - LEU286VAL 410 410 CYS TYR ALZHEIMER DISEASE - FAMILIAL - 3 PSEN1 - CYS410TYR 139 139 MET VAL ALZHEIMER DISEASE - FAMILIAL - 3 PSEN1 - MET139VAL 146 146 MET VAL ALZHEIMER DISEASE - FAMILIAL - 3 PSEN1 - MET146VAL 163 163 HIS TYR ALZHEIMER DISEASE - FAMILIAL - 3 PSEN1 - HIS163TYR 280 280 GLU ALA ALZHEIMER DISEASE - FAMILIAL - 3 PSEN1 - GLU280ALA 280 280 GLU GLY ALZHEIMER DISEASE - FAMILIAL - 3 ALZHEIMER DISEASE - FAMILIAL - WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES - INCLUDED PSEN1 - GLU280GLY 267 267 PRO SER ALZHEIMER DISEASE - FAMILIAL - 3 PSEN1 - PRO267SER 120 120 GLU ASP ALZHEIMER DISEASE - FAMILIAL - 3 PSEN1 - GLU120ASP 426 426 ALA PRO ALZHEIMER DISEASE - FAMILIAL - 3 PSEN1 - ALA426PRO 146 146 MET ILE ALZHEIMER DISEASE - FAMILIAL - 3 PSEN1 - MET146ILE 250 250 LEU SER ALZHEIMER DISEASE - FAMILIAL - 3 PSEN1 - LEU250SER 278 278 ARG THR ALZHEIMER DISEASE - FAMILIAL - WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES PSEN1 - ARG278THR 92 92 CYS SER ALZHEIMER DISEASE - FAMILIAL - 3 PSEN1 - CYS92SER 206 206 GLY ALA ALZHEIMER DISEASE - FAMILIAL - 3 PSEN1 - GLY206ALA 266 266 GLY SER ALZHEIMER DISEASE - FAMILIAL - 3 - WITH SPASTIC PARAPARESIS AND APRAXIA PSEN1 - GLY266SER 113 113 LEU PRO DEMENTIA - FRONTOTEMPORAL PSEN1 - LEU113PRO 166 166 LEU PRO ALZHEIMER DISEASE - FAMILIAL - 3 PSEN1 - LEU166PRO 174 174 LEU MET ALZHEIMER DISEASE - FAMILIAL - 3 PSEN1 - LEU174MET 271 271 LEU VAL ALZHEIMER DISEASE - FAMILIAL - 3 - WITH UNUSUAL PLAQUES PSEN1 - LEU271VAL 183 183 GLY VAL PICK DISEASE OF BRAIN PSEN1 - GLY183VAL 436 436 PRO GLN ALZHEIMER DISEASE - FAMILIAL - 3 PSEN1 - PRO436GLN 278 278 ARG ILE ALZHEIMER DISEASE - FAMILIAL - 3 PSEN1 - ARG278ILE 85 85 LEU PRO ALZHEIMER DISEASE - FAMILIAL - 3 - WITH SPASTIC PARAPARESIS AND APRAXIA PSEN1 - LEU85PRO 431 431 ALA GLU ALZHEIMER DISEASE - FAMILIAL - 3 PSEN1 - ALA431GLU 333 333 ASP GLY CARDIOMYOPATHY - DILATED - 1U PSEN1 - ASP333GLY 79 79 ALA VAL ALZHEIMER DISEASE - FAMILIAL - 3 PSEN1 - ALA79VAL 170 170 SER PHE ALZHEIMER DISEASE - FAMILIAL - 3 PSEN1 - SER170PHE 217 217 GLY ARG ALZHEIMER DISEASE - FAMILIAL - 3 - WITH UNUSUAL PLAQUES PSEN1 - GLY217ARG 467 467 MET THR CYSTINURIA SLC3A1 - MET467THR 467 467 MET LYS CYSTINURIA SLC3A1 - MET467LYS 678 678 LEU PRO CYSTINURIA SLC3A1 - LEU678PRO 181 181 ARG GLN CYSTINURIA SLC3A1 - ARG181GLN 652 652 THR ARG CYSTINURIA SLC3A1 - THR652ARG 615 615 PRO THR CYSTINURIA SLC3A1 - PRO615THR 362 362 ARG HIS CYSTINURIA SLC3A1 - ARG362HIS 353 353 ARG CYS AMINOACYLASE 1 DEFICIENCY ACY1 - ARG353CYS 233 233 GLU ASP AMINOACYLASE 1 DEFICIENCY ACY1 - GLU233ASP 197 197 ARG TRP AMINOACYLASE 1 DEFICIENCY ACY1 - ARG197TRP 393 393 ARG HIS AMINOACYLASE 1 DEFICIENCY ACY1 - ARG393HIS 72 90 GLY ASP SERUM AMYLOID A VARIANT SAA1 - GLY72ASP 52 70 VAL ALA SERUM AMYLOID A VARIANT SAA1 - VAL52ALA 693 693 GLU GLN CEREBRAL AMYLOID ANGIOPATHY - APP-RELATED - DUTCH VARIANT APP - GLU693GLN 717 717 VAL ILE ALZHEIMER DISEASE - FAMILIAL - 1 APP - VAL717ILE 717 717 VAL PHE ALZHEIMER DISEASE - FAMILIAL - 1 APP - VAL717PHE 717 717 VAL GLY ALZHEIMER DISEASE - FAMILIAL - 1 APP - VAL717GLY 692 692 ALA GLY CEREBRAL AMYLOID ANGIOPATHY - APP-RELATED - FLEMISH VARIANT ALZHEIMER DISEASE - FAMILIAL - 1 - INCLUDED APP - ALA692GLY 671 671 MET LEU ALZHEIMER DISEASE - FAMILIAL - 1 APP - LYS670ASN AND MET671LEU 670 670 LYS ASN ALZHEIMER DISEASE - FAMILIAL - 1 APP - LYS670ASN AND MET671LEU 713 713 ALA THR ALZHEIMER DISEASE - FAMILIAL - 1 APP - ALA713THR 665 665 GLU ASP ALZHEIMER DISEASE - FAMILIAL - 1 APP - GLU665ASP 716 716 ILE VAL ALZHEIMER DISEASE - FAMILIAL - 1 APP - ILE716VAL 715 715 VAL MET ALZHEIMER DISEASE - FAMILIAL - 1 APP - VAL715MET 693 693 GLU GLY ALZHEIMER DISEASE - FAMILIAL - 1 CEREBRAL AMYLOID ANGIOPATHY - APP-RELATED - ARCTIC VARIANT - INCLUDED APP - GLU693GLY 693 693 GLU LYS CEREBRAL AMYLOID ANGIOPATHY - APP-RELATED - ITALIAN VARIANT APP - GLU693LYS 714 714 THR ILE ALZHEIMER DISEASE - FAMILIAL - 1 APP - THR714ILE 694 694 ASN ASP CEREBRAL AMYLOID ANGIOPATHY - APP-RELATED - IOWA VARIANT APP - ASN694ASP 714 714 THR ALA ALZHEIMER DISEASE - FAMILIAL - 1 APP - THR714ALA 705 705 LEU VAL CEREBRAL AMYLOID ANGIOPATHY - APP-RELATED - PIEDMONT VARIANT APP - LEU705VAL 717 717 VAL LEU ALZHEIMER DISEASE - FAMILIAL - 1 APP - VAL717LEU 673 673 ALA VAL DEMENTIA - EARLY-ONSET PROGRESSIVE - AUTOSOMAL RECESSIVE APP - ALA673VAL 1275 1275 ARG GLN NEUROBLASTOMA - SUSCEPTIBILITY TO - 3 ALK - ARG1275GLN 1128 1128 GLY ALA NEUROBLASTOMA - SUSCEPTIBILITY TO - 3 ALK - GLY1128ALA 1192 1192 ARG PRO NEUROBLASTOMA - SUSCEPTIBILITY TO - 3 ALK - ARG1192PRO 1151 1151 THR MET NEUROBLASTOMA - SUSCEPTIBILITY TO - 3 ALK - THR1151MET 12 36 GLN LEU AMYOTROPHIC LATERAL SCLEROSIS 9 ANG - GLN12LEU 17 41 LYS ILE AMYOTROPHIC LATERAL SCLEROSIS 9 ANG - LYS17ILE 17 41 LYS GLU AMYOTROPHIC LATERAL SCLEROSIS 9 ANG - LYS17GLU 31 55 ARG LYS AMYOTROPHIC LATERAL SCLEROSIS 9 ANG - ARG31LYS 39 63 CYS TRP AMYOTROPHIC LATERAL SCLEROSIS 9 ANG - CYS39TRP 40 64 LYS ILE AMYOTROPHIC LATERAL SCLEROSIS 9 ANG - LYS40ILE 46 70 ILE VAL AMYOTROPHIC LATERAL SCLEROSIS 9 ANG - ILE46VAL 28 52 SER ASN AMYOTROPHIC LATERAL SCLEROSIS 9 ANG - SER28ASN 112 136 PRO LEU AMYOTROPHIC LATERAL SCLEROSIS 9 ANG - PRO112LEU 113 137 VAL ILE AMYOTROPHIC LATERAL SCLEROSIS 9 ANG - VAL113ILE 235 235 MET THR HYPERTENSION - ESSENTIAL - SUSCEPTIBILITY TO PREECLAMPSIA - SUSCEPTIBILITY TO - INCLUDED;; IgA NEPHROPATHY - PROGRESSION TO RENAL FAILURE IN - SUSCEPTIBILITY TO - INCLUDED AGT - MET235THR 375 375 ARG GLN RENAL TUBULAR DYSGENESIS AGT - ARG375GLN 282 282 THR MET RENAL TUBULAR DYSGENESIS AGTR1 - THR282MET 1199 1199 PRO LEU ANGIOTENSIN I-CONVERTING ENZYME - BENIGN SERUM INCREASE ACE - PRO1199LEU 1425 1425 GLU GLY LONG QT SYNDROME 4 CARDIAC ARRHYTHMIA - ANKYRIN-B-RELATED - INCLUDED ANK2 - GLU1425GLY 1626 1626 THR ASN CARDIAC ARRHYTHMIA - ANKYRIN-B-RELATED ANK2 - THR1626ASN 1622 1622 LEU ILE CARDIAC ARRHYTHMIA - ANKYRIN-B-RELATED ANK2 - LEU1622ILE 1788 1788 ARG TRP LONG QT SYNDROME 4 ANK2 - ARG1788TRP 1813 1813 GLU LYS CARDIAC ARRHYTHMIA - ANKYRIN-B-RELATED ANK2 - GLU1813LYS 46 46 ARG GLY INDIAN BLOOD GROUP SYSTEM POLYMORPHISM CD44 - ARG46GLY 389 389 MET VAL ANTICHYMOTRYPSIN ISEHARA 1 SERPINA3 - MET389VAL 55 55 LEU PRO ANTICHYMOTRYPSIN BOCHUM 1 SERPINA3 - LEU55PRO 229 229 PRO ALA ANTICHYMOTRYPSIN BONN 1 SERPINA3 - PRO229ALA 404 436 ALA THR THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY SERPINC1 - ALA404THR 47 79 ARG CYS THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY SERPINC1 - ARG47CYS 384 416 ALA PRO THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY SERPINC1 - ALA384PRO 393 425 ARG PRO THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY SERPINC1 - ARG393PRO 394 426 SER LEU THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY SERPINC1 - SER394LEU 41 73 PRO LEU THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY SERPINC1 - PRO41LEU 47 79 ARG HIS THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY SERPINC1 - ARG47HIS 47 79 ARG SER THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY SERPINC1 - ARG47SER 393 425 ARG CYS THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY AT3 - ARG393CYS 407 439 PRO LEU THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY SERPINC1 - PRO407LEU 393 425 ARG CYS THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY SERPINC1 - ARG393CYS 393 425 ARG HIS THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY SERPINC1 - ARG393HIS 382 414 ALA THR THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY SERPINC1 - ALA382THR 7 39 ILE ASN THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY SERPINC1 - ILE7ASN 24 56 ARG CYS THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY SERPINC1 - ARG24CYS 384 416 ALA SER THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY SERPINC1 - ALA384SER 291 323 SER PRO THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY SERPINC1 - SER291PRO 309 341 ASP LYS THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY SERPINC1 - ASP309LYS 129 161 ARG GLN THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY SERPINC1 - ARG129GLN 429 461 PRO LEU THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY SERPINC1 - PRO429LEU 349 381 SER PRO THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY SERPINC1 - SER349PRO 392 424 GLY ASP THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY SERPINC1 - GLY392ASP 99 131 LEU PHE THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY SERPINC1 - LEU99PHE 387 419 ALA VAL THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY SERPINC1 - ALA387VAL 116 148 SER PRO THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY SERPINC1 - SER116PRO 135 167 ASN THR THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY SERPINC1 - ASN135THR 187 219 ASN ASP THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY SERPINC1 - ASN187ASP 191 223 SER PRO THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY SERPINC1 - SER191PRO 95 127 CYS ARG THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY SERPINC1 - CYS95ARG 399 427 GLU GLN EPILEPSY - PYRIDOXINE-DEPENDENT ALDH7A1 - GLU399GLN 171 199 ALA VAL EPILEPSY - PYRIDOXINE-DEPENDENT ALDH7A1 - ALA171VAL 273 301 ASN ILE EPILEPSY - PYRIDOXINE-DEPENDENT ALDH7A1 - ASN273ILE 101 125 ARG HIS PI M2 PI - ARG101HIS ON M3 376 400 GLU ASP PI M3 PI - GLU376ASP ON M1V 101 125 ARG HIS PI M4 PI - ARG101HIS ON M1V 223 247 ARG CYS PI F PI - ARG223CYS ON M1V 341 365 ASP ASN PI P(ST. ALBANS) PI - ASP341ASN ON M1V 204 228 GLU LYS PI X PI - GLU204LYS ON M1V 363 387 GLU LYS PI CHRISTCHURCH PI - GLU363LYS 342 366 GLU LYS PI Z PI - GLU342LYS ON M1A 264 288 GLU VAL PI S PI - GLU264VAL ON M1V 369 393 PRO LEU PI M(HEERLEN) PI - PRO369LEU ON M1A 67 91 GLY GLU PI M(MINERAL SPRINGS) PI - GLY67GLU ON M1A 41 65 LEU PRO PI M(PROCIDA) PI - LEU41PRO ON M1V 148 172 GLY ARG PI M(NICHINAN) PI - PHE52DEL AND GLY148ARG 39 63 ARG CYS PI I PI - ARG39CYS ON M1V 256 280 ASP VAL PI P(LOWELL) PI NULL(CARDIFF);; PI Q0(CARDIFF) PI - ASP256VAL ON M1V 353 377 LEU PHE PI NULL(MATTAWA) PI Q0(MATTAWA) PI - LEU353PHE ON M1V 358 382 MET ARG PI PITTSBURGH 'ANTITHROMBIN' PITTSBURGH PI - MET358ARG 2 26 ASP ALA PI V(MUNICH) PI - ASP2ALA ON M1V 342 366 GLU LYS PI Z(AUGSBURG) PI Z(TUN) PI - GLU342LYS ON M2 336 360 ALA THR PI W(BETHESDA) PI - ALA336THR ON M1A 115 139 GLY SER PI NULL(DEVON) PI Q0(DEVON);; PI NULL(NEWPORT);; PI Q0(NEWPORT) PI - GLY115SER 92 116 ILE ASN PI NULL(LUDWIGSHAFEN) PI Q0(LUDWIGSHAFEN) PI - ILE92ASN 256 280 ASP VAL PI P(DUARTE) PI - ASP256VAL 53 77 SER PHE PI S(IIYAMA) PI - SER53PHE 85 109 THR MET PI Z(BRISTOL) PI - THR85MET ON M1V 87 87 ILE THR BCG INFECTION - TUBERCULOID - ANTIBIOTIC-RESPONSIVE MYCOBACTERIUM TUBERCULOSIS - SUSCEPTIBILITY TO INFECTION BY IFNGR1 - ILE87THR 77 77 CYS TYR ATYPICAL MYCOBACTERIAL INFECTION - DISSEMINATED FAMILIAL IFNGR1 - CYS77TYR 61 61 VAL GLN ATYPICAL MYCOBACTERIAL INFECTION - DISSEMINATED IFNGR1 - VAL61GLN 1 1 MET LYS ATYPICAL MYCOBACTERIAL INFECTION - DISSEMINATED IFNGR1 - MET1LYS 255 255 ARG GLY BRANCHIOOCULOFACIAL SYNDROME TFAP2A - ARG255GLY 262 262 GLY GLU BRANCHIOOCULOFACIAL SYNDROME TFAP2A - GLY262GLU 319 319 PHE SER BRANCHIOOCULOFACIAL SYNDROME TFAP2A - PHE319SER 269 269 GLU LYS BRANCHIOOCULOFACIAL SYNDROME TFAP2A - GLU269LYS 237 237 ARG GLN BRANCHIOOCULOFACIAL SYNDROME TFAP2A - ARG237GLN 173 197 ARG CYS APOLIPOPROTEIN A-I (MILANO) APOA1 - ARG173CYS 198 222 GLU LYS APOLIPOPROTEIN A-I (MUNSTER4) APOA1 - GLU198LYS 136 160 GLU LYS APOLIPOPROTEIN A-I (NORWAY) APOA1 - GLU136LYS 143 167 PRO ARG APOLIPOPROTEIN A-I (GIESSEN) APOA1 - PRO143ARG 3 27 PRO ARG APOLIPOPROTEIN A-I (MUNSTER3C) APOA1 - PRO3ARG 4 28 PRO ARG APOLIPOPROTEIN A-I DEFICIENCY APOA1 - PRO4ARG 165 189 PRO ARG APOLIPOPROTEIN A-I APOA1 - PRO165ARG 26 50 GLY ARG AMYLOID POLYNEUROPATHY-NEPHROPATHY - IOWA TYPE AMYLOIDOSIS - VAN ALLEN TYPE;; AMYLOIDOSIS IV - FORMERLY APOA1 - GLY26ARG 10 34 ARG LEU APOLIPOPROTEIN A-I (BALTIMORE) APOA1 - ARG10LEU 60 84 LEU ARG AMYLOIDOSIS - SYSTEMIC NONNEUROPATHIC APOA1 - LEU60ARG 50 74 TRP ARG AMYLOIDOSIS - SYSTEMIC NONNEUROPATHIC APOA1 - TRP50ARG 156 180 VAL GLU APOLIPOPROTEIN A-I DEFICIENCY APOA1 - VAL156GLU 90 114 LEU PRO AMYLOIDOSIS - CARDIAC AND CUTANEOUS APOA1 - LEU90PRO 173 197 ARG PRO AMYLOIDOSIS - CARDIAC AND CUTANEOUS APOA1 - ARG173PRO 174 198 LEU SER AMYLOIDOSIS - SYSTEMIC NONNEUROPATHIC APOA1 - LEU174SER 175 199 ALA PRO AMYLOIDOSIS - SYSTEMIC NONNEUROPATHIC APOA1 - ALA175PRO 360 380 GLN HIS APOLIPOPROTEIN A-IV POLYMORPHISM - APOA4*1/APOA4*2 APOA4 - GLN360HIS 230 250 GLU LYS APOLIPOPROTEIN A-IV RARE VARIANT - APOA4*3 APOA4 - GLU230LYS 74 94 THR ALA APOLIPOPROTEIN C-III - NONGLYCOSYLATED APOC3 - THR74ALA 58 78 LYS GLU APOLIPOPROTEIN C-III DEFICIENCY APOC3 - LYS58GLU 1728 1755 ASN THR HYPOBETALIPOPROTEINEMIA - FAMILIAL APOB - ASN1728THR AND SER1729TER 1829 1856 VAL CYS HYPOBETALIPOPROTEINEMIA - FAMILIAL - ASSOCIATED WITH APOB40 APOB40 APOB - VAL1829CYS 4034 4061 GLU ARG HYPOBETALIPOPROTEINEMIA - FAMILIAL - ASSOCIATED WITH APOB90 OR APOB89 APOB90/APOB89 APOB - GLU4034ARG 3500 3527 ARG GLN HYPERCHOLESTEROLEMIA DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B100 APOB - ARG3500GLN 3531 3558 ARG CYS HYPERCHOLESTEROLEMIA DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B APOB - ARG3531CYS 158 176 ARG CYS APOE2 ISOFORMS HYPERLIPOPROTEINEMIA - TYPE III - AUTOSOMAL RECESSIVE APOE - ARG158CYS 3 21 GLU LYS HYPERLIPOPROTEINEMIA AND ATHEROSCLEROSIS ASSOCIATED WITH APOE5 APOE - GLU3LYS 136 154 ARG SER HYPERLIPOPROTEINEMIA - TYPE III - DUE TO APOE2-CHRISTCHURCH APOE - ARG136SER 145 163 ARG CYS HYPERLIPOPROTEINEMIA - TYPE III - ASSOCIATED WITH APOE2 FAMILIAL DYSBETALIPOPROTEINEMIA APOE - ARG145CYS 244 262 GLU LYS HYPERLIPOPROTEINEMIA - TYPE III - ASSOCIATED WITH APOE7 APOE-SUITA APOE - GLU244LYS AND GLU245LYS 245 263 GLU LYS HYPERLIPOPROTEINEMIA - TYPE III - ASSOCIATED WITH APOE7 APOE-SUITA APOE - GLU244LYS AND GLU245LYS 142 160 ARG CYS HYPERLIPOPROTEINEMIA - TYPE III - AUTOSOMAL DOMINANT FAMILIAL DYSBETALIPOPROTEINEMIA APOE - CYS112ARG AND ARG142CYS 112 130 CYS ARG HYPERLIPOPROTEINEMIA - TYPE III - AUTOSOMAL DOMINANT FAMILIAL DYSBETALIPOPROTEINEMIA APOE - CYS112ARG AND ARG142CYS 127 145 GLY ASP APOLIPOPROTEINEMIA E1 APOE - GLY127ASP AND ARG148CYS 148 148 ARG CYS APOLIPOPROTEINEMIA E1 APOE - GLY127ASP AND ARG148CYS 146 164 LYS GLU HYPERLIPOPROTEINEMIA - TYPE III - DUE TO APOE1-HARRISBURG APOE - LYS146GLU 146 164 LYS GLN DYSBETALIPOPROTEINEMIA DUE TO APOE2 APOE - LYS146GLN 228 246 ARG CYS APOE2-DUNEDIN APOE - ARG228CYS 145 163 ARG CYS HYPERLIPOPROTEINEMIA - TYPE III - DUE TO APOE4-PHILADELPHIA APOE - GLU13LYS AND ARG145CYS 13 31 GLU LYS HYPERLIPOPROTEINEMIA - TYPE III - DUE TO APOE4-PHILADELPHIA APOE - GLU13LYS AND ARG145CYS 112 130 CYS ARG ALZHEIMER DISEASE 2 APOE - CYS112ARG 145 163 ARG HIS HYPERLIPOPROTEINEMIA - TYPE III APOE3(-)-KOCHI APOE - ARG145HIS 158 176 ARG CYS HYPERLIPOPROTEINEMIA - TYPE III - ASSOCIATED WITH APOE2-FUKUOKA APOE2-FUKUOKA APOE - ARG158CYS AND ARG224GLN 224 242 ARG GLN HYPERLIPOPROTEINEMIA - TYPE III - ASSOCIATED WITH APOE2-FUKUOKA APOE2-FUKUOKA APOE - ARG158CYS AND ARG224GLN 3 21 GLU LYS HYPERCHOLESTEROLEMIA AND HYPERTRIGLYCERIDEMIA - TYPE III APOE - GLU3LYS AND GLU13LYS 13 31 GLU LYS HYPERCHOLESTEROLEMIA AND HYPERTRIGLYCERIDEMIA - TYPE III APOE - GLU3LYS AND GLU13LYS 158 176 ARG CYS HYPERLIPOPROTEINEMIA - TYPE III - ASSOCIATED WITH APOE2 APOE - ARG158CYS AND VAL236GLU 236 254 VAL GLU HYPERLIPOPROTEINEMIA - TYPE III - ASSOCIATED WITH APOE2 APOE - ARG158CYS AND VAL236GLU 112 130 CYS ARG HYPERLIPOPROTEINEMIA - TYPE III - ASSOCIATED WITH APOE4 APOE - CYS112ARG AND ARG251GLY 251 269 ARG GLY HYPERLIPOPROTEINEMIA - TYPE III - ASSOCIATED WITH APOE4 APOE - CYS112ARG AND ARG251GLY 28 46 LEU PRO APOE4(-)-FREIBURG APOE - LEU28PRO AND CYS112ARG 112 130 CYS ARG APOE4(-)-FREIBURG APOE - LEU28PRO AND CYS112ARG 42 60 THR ALA APOE3(-)-FREIBURG APOE - THR42ALA 112 130 CYS ARG APOE4 VARIANT APOE - PRO84ARG AND CYS112ARG 84 102 PRO ARG APOE4 VARIANT APOE - PRO84ARG AND CYS112ARG 152 170 ALA PRO APOE3 VARIANT APOE - ALA99THR AND ALA152PRO 99 117 ALA THR APOE3 VARIANT APOE - ALA99THR AND ALA152PRO 134 152 ARG GLN APOE2 VARIANT APOE - ARG134GLN 274 292 ARG HIS APOE4 VARIANT APOE - ARG274HIS 296 314 SER ARG APOE4(+) APOE - SER296ARG 145 163 ARG PRO LIPOPROTEIN GLOMERULOPATHY APOE SENDAI APOE - ARG145PRO 25 43 ARG CYS LIPOPROTEIN GLOMERULOPATHY APOE KYOTO APOE - ARG25CYS 45 45 ALA VAL COLTON BLOOD GROUP POLYMORPHISM AQP1 - ALA45VAL 38 38 PRO LEU AQUAPORIN 1 DEFICIENCY COLTON-NULL - INCLUDED AQP1 - PRO38LEU 187 187 ARG CYS DIABETES INSIPIDUS - NEPHROGENIC - AUTOSOMAL RECESSIVE AQP2 - ARG187CYS 216 216 SER PRO DIABETES INSIPIDUS - NEPHROGENIC - AUTOSOMAL RECESSIVE AQP2 - SER216PRO 64 64 GLY ARG DIABETES INSIPIDUS - NEPHROGENIC - AUTOSOMAL RECESSIVE AQP2 - GLY64ARG 147 147 ALA THR DIABETES INSIPIDUS - NEPHROGENIC - AUTOSOMAL RECESSIVE AQP2 - ALA147THR 126 126 THR MET DIABETES INSIPIDUS - NEPHROGENIC - AUTOSOMAL RECESSIVE AQP2 - THR126MET 68 68 ASN SER DIABETES INSIPIDUS - NEPHROGENIC - AUTOSOMAL RECESSIVE AQP2 - ASN68SER 258 258 GLU LYS DIABETES INSIPIDUS - NEPHROGENIC - AUTOSOMAL DOMINANT AQP2 - GLU258LYS 125 125 THR MET DIABETES INSIPIDUS - NEPHROGENIC - AUTOSOMAL RECESSIVE AQP2 - THR125MET 175 175 GLY ARG DIABETES INSIPIDUS - NEPHROGENIC - AUTOSOMAL RECESSIVE AQP2 - GLY175ARG 22 22 LEU VAL DIABETES INSIPIDUS - NEPHROGENIC - AUTOSOMAL RECESSIVE AQP2 - LEU22VAL 181 181 CYS TRP DIABETES INSIPIDUS - NEPHROGENIC - AUTOSOMAL RECESSIVE AQP2 - CYS181TRP 57 57 GLN PRO DIABETES INSIPIDUS - NEPHROGENIC - AUTOSOMAL RECESSIVE AQP2 - GLN57PRO 100 100 GLY VAL DIABETES INSIPIDUS - NEPHROGENIC - AUTOSOMAL RECESSIVE AQP2 - GLY100VAL 262 262 PRO LEU DIABETES INSIPIDUS - NEPHROGENIC - AUTOSOMAL RECESSIVE AQP2 - PRO262LEU 190 190 ALA THR DIABETES INSIPIDUS - NEPHROGENIC - AUTOSOMAL RECESSIVE AQP2 - ALA190THR 435 435 ARG CYS AROMATASE DEFICIENCY CYP19A1 - ARG435CYS 437 437 CYS TYR AROMATASE DEFICIENCY CYP19A1 - CYS437TYR 375 375 ARG CYS AROMATASE DEFICIENCY CYP19A1 - ARG375CYS 365 365 ARG GLN AROMATASE DEFICIENCY CYP19A1 - ARG365GLN 210 210 GLU LYS AROMATASE DEFICIENCY CYP19A1 - GLU210LYS 102 102 GLY SER AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY DDC - GLY102SER 250 250 SER PHE AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY DDC - SER250PHE 309 309 PHE LEU AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY DDC - PHE309LEU 147 147 SER ARG AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY DDC - SER147ARG 91 91 ALA VAL AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY DDC - ALA91VAL 275 275 ALA THR AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY DDC - ALA275THR 149 149 VAL ILE NAT1*17 ALLELE NAT1 - VAL149ILE 789 789 PRO LEU BRODY MYOPATHY ATP2A1 - PRO789LEU 586 587 VAL MET DEAFNESS - AUTOSOMAL RECESSIVE 12 - MODIFIER OF ATP2B2 - VAL586MET 23 23 GLY GLU DARIER DISEASE ATP2A2 - GLY23GLU 767 767 ASN SER DARIER DISEASE - ACRAL HEMORRHAGIC TYPE ATP2A2 - ASN767SER 268 268 CYS PHE DARIER DISEASE - ACRAL HEMORRHAGIC TYPE ATP2A2 - CYS268PHE 560 560 CYS ARG DARIER DISEASE ATP2A2 - CYS560ARG 769 769 GLY ARG DARIER DISEASE - SEGMENTAL ATP2A2 - GLY769ARG 602 602 PRO LEU ACROKERATOSIS VERRUCIFORMIS ATP2A2 - PRO602LEU 131 131 ARG GLN DARIER DISEASE ATP2A2 - ARG131GLN 32 32 PRO THR ACROMESOMELIC DYSPLASIA - MAROTEAUX TYPE NPR2 - PRO32THR 115 115 TRP GLY ACROMESOMELIC DYSPLASIA - MAROTEAUX TYPE NPR2 - TRP115GLY 176 176 ASP GLU ACROMESOMELIC DYSPLASIA - MAROTEAUX TYPE NPR2 - ASP176GLU 56 56 LYS GLU BAND 3 MEMPHIS SLC4A1 - LYS56GLU 327 327 PRO ARG SPHEROCYTOSIS - TYPE 4 - DUE TO BAND 3 TUSCALOOSA SLC4A1 - PRO327ARG 40 40 GLU LYS SPHEROCYTOSIS - TYPE 4 - DUE TO BAND 3 MONTEFIORE SLC4A1 - GLU40LYS 658 658 GLU LYS WRIGHT BLOOD GROUP ANTIGEN SLC4A1 - GLU658LYS 771 771 GLY ASP SPHEROCYTOSIS - TYPE 4 - DUE TO BAND 3 CHUR SLC4A1 - GLY771ASP 557 557 VAL MET WALDNER BLOOD GROUP ANTIGEN SLC4A1 - VAL557MET 589 589 ARG HIS RENAL TUBULAR ACIDOSIS - DISTAL - AUTOSOMAL DOMINANT SLC4A1 - ARG589HIS 589 589 ARG CYS RENAL TUBULAR ACIDOSIS - DISTAL - AUTOSOMAL DOMINANT SLC4A1 - ARG589CYS 613 613 SER PHE RENAL TUBULAR ACIDOSIS - DISTAL - AUTOSOMAL DOMINANT SLC4A1 - SER613PHE 589 589 ARG SER RENAL TUBULAR ACIDOSIS - DISTAL - AUTOSOMAL DOMINANT SLC4A1 - ARG589SER 701 701 GLY ASP RENAL TUBULAR ACIDOSIS - DISTAL - WITH HEMOLYTIC ANEMIA SLC4A1 - GLY701ASP 854 854 PRO LEU DIEGO BLOOD GROUP ANTIGEN SLC4A1 - PRO854LEU 130 130 GLY ARG SPHEROCYTOSIS - TYPE 4 - DUE TO BAND 3 FUKUOKA SLC4A1 - GLY130ARG 837 837 THR ALA SPHEROCYTOSIS - TYPE 4 - DUE TO BAND 3 TOKYO SLC4A1 - THR837ALA 858 858 ALA ASP RENAL TUBULAR ACIDOSIS - AUTOSOMAL DOMINANT SLC4A1 - ALA858ASP 488 488 VAL MET SPHEROCYTOSIS - TYPE 4 - DUE TO BAND 3 COIMBRA RENAL TUBULAR ACIDOSIS - DISTAL - WITH HEMOLYTIC ANEMIA - INCLUDED SLC4A1 - VAL488MET 90 90 GLU LYS SPHEROCYTOSIS - TYPE 4 - DUE TO BAND 3 CAPE TOWN SLC4A1 - GLU90LYS 870 870 ARG TRP SPHEROCYTOSIS - TYPE 4 - DUE TO BAND 3 PRAGUE III SLC4A1 - ARG870TRP 773 773 SER PRO RENAL TUBULAR ACIDOSIS - DISTAL - WITH NORMAL RED CELL MORPHOLOGY SLC4A1 - SER773PRO 602 602 ARG PRO RENAL TUBULAR ACIDOSIS - DISTAL - WITH HEMOLYTIC ANEMIA SLC4A1 - ARG602PRO 760 760 ARG GLN SPHEROCYTOSIS - TYPE 4 - DUE TO BAND 3 PRAGUE II SLC4A1 - ARG760GLN 480 480 GLU LYS FROESE BLOOD GROUP ANTIGEN SLC4A1 - GLU480LYS 646 646 ARG GLN SWANN BLOOD GROUP ANTIGEN SLC4A1 - ARG646GLN 646 646 ARG TRP SWANN BLOOD GROUP ANTIGEN SLC4A1 - ARG646TRP 878 878 PRO LEU ACANTHOCYTOSIS DUE TO BAND 3 HT SLC4A1 - PRO878LEU 92 92 GLU LYS BLOOD GROUP--OK BSG - GLU92LYS 83 83 CYS ARG IMMUNODEFICIENCY WITH HYPER-IgM - TYPE 3 CD40 - CYS83ARG 389 389 ARG GLY CONGESTIVE HEART FAILURE AND BETA-BLOCKER RESPONSE - MODIFIER OF ADRB1 - ARG389GLY 49 49 SER GLY RESTING HEART RATE - VARIATION IN ADRB1 - SER49GLY 16 16 ARG GLY ASTHMA - NOCTURNAL - SUSCEPTIBILITY TO METABOLIC SYNDROME - SUSCEPTIBILITY TO - INCLUDED ADRB2 - ARG16GLY 27 27 GLN GLU OBESITY - SUSCEPTIBILITY TO ASTHMA - CHILDHOOD - SUSCEPTIBILITY TO - INCLUDED;; METABOLIC SYNDROME - SUSCEPTIBILITY TO - INCLUDED ADRB2 - GLN27GLU 164 164 THR ILE BETA-2-ADRENORECEPTOR AGONIST - REDUCED RESPONSE TO ADRB2 - THR164ILE 64 64 TRP ARG OBESITY - SUSCEPTIBILITY TO ADRB3 - TRP64ARG 11 11 ALA PRO HYPOPROTEINEMIA - HYPERCATABOLIC B2M - ALA11PRO 156 156 PRO LEU BLOOD GROUP CIS-AB ABO - PRO156LEU - GLY268ALA 268 268 GLY ALA BLOOD GROUP CIS-AB ABO - PRO156LEU - GLY268ALA 234 234 PRO ALA BLOOD GROUP B(A) ABO - PRO234ALA 265 265 ASN ASP DOMBROCK BLOOD GROUP ART4 - ASN265ASP 8 8 ASN SER GLYCOPHORIN D - WEBB VARIANT BLOOD GROUP--WEBB ANTIGEN WB GYPD - ASN8SER 14 14 LEU PHE GLYCOPHORIN D - DUCH VARIANT BLOOD GROUP DH GYPD - LEU14PHE 193 193 THR MET KELL K/k BLOOD GROUP POLYMORPHISM KEL - THR193MET 280 280 ASP ASN KIDD BLOOD POLYMORPHISM Jk(a)/Jk(b) JK - ASP280ASN - 838G-A 291 291 SER PRO JK-NULL VARIANT - FINNISH TYPE JK - SER291PRO 170 170 GLY SER Le(-) PHENOTYPE FUT3 - LEU20ARG AND GLY170SER 20 20 LEU ARG Le(-) PHENOTYPE FUT3 - LEU20ARG AND GLY170SER 70 70 GLN ARG LW(a)/LW(b) BLOOD GROUP POLYMORPHISM LW - GLN70ARG 59 59 GLY ARG BLOOD GROUP ERIK GPA - GLY59ARG 110 110 LEU PRO RHD CATEGORY D-VII RHD - LEU110PRO 270 270 VAL GLY RHD - WEAK D - TYPE I RHD - VAL270GLY 226 226 PRO ALA RH E/e POLYMORPHISM RHCE - PRO226ALA 60 60 ILE LEU RH C/c POLYMORPHISM RHCE - CYS16TRP - ILE60LEU - SER68ASN - AND SER103PRO 68 68 SER ASN RH C/c POLYMORPHISM RHCE - CYS16TRP - ILE60LEU - SER68ASN - AND SER103PRO 16 16 CYS TRP RH C/c POLYMORPHISM RHCE - CYS16TRP - ILE60LEU - SER68ASN - AND SER103PRO 103 103 SER PRO RH C/c POLYMORPHISM RHCE - CYS16TRP - ILE60LEU - SER68ASN - AND SER103PRO 93 93 GLU GLY MICROPHTHALMIA - SYNDROMIC 6 BMP4 - GLU93GLY 346 346 ALA VAL OROFACIAL CLEFT 11; OFC11 BMP4 - ALA346VAL 91 91 SER CYS OROFACIAL CLEFT 11; OFC11 BMP4 - SER91CYS 287 287 ARG HIS OROFACIAL CLEFT 11; OFC11 BMP4 - ARG287HIS 2 2 THR ILE CENTRAL HYPOVENTILATION SYNDROME - CONGENITAL BDNF - THR2ILE 66 66 VAL MET MEMORY IMPAIRMENT - SUSCEPTIBILITY TO OBSESSIVE-COMPULSIVE DISORDER - PROTECTION AGAINST - INCLUDED;; ANOREXIA NERVOSA - SUSCEPTIBILITY TO - 2 - INCLUDED;; BULIMIA NERVOSA - SUSCEPTIBILITY TO - 2 - INCLUDED;; BIPOLAR AFFECTIVE DISORDER - SUSCEPTIBILITY TO - INCLUDED;; PARKINSON DISEASE - AGE AT ONSET - SUSCEPTIBILITY TO - INCLUDED BDNF - VAL66MET 64 64 CYS GLY BREAST-OVARIAN CANCER - FAMILIAL - SUSCEPTIBILITY TO - 1 BRCA1 - CYS64GLY 61 61 CYS GLY BREAST-OVARIAN CANCER - FAMILIAL - SUSCEPTIBILITY TO - 1 BRCA1 - CYS61GLY 1040 1040 SER ASN BREAST-OVARIAN CANCER - FAMILIAL - SUSCEPTIBILITY TO - 1 BRCA1 - SER1040ASN 1443 1443 ARG GLY BREAST-OVARIAN CANCER - FAMILIAL - SUSCEPTIBILITY TO - 1 BRCA1 - ARG1443GLY 841 841 ARG TRP BREAST-OVARIAN CANCER - FAMILIAL - SUSCEPTIBILITY TO - 1 BRCA1 - ARG841TRP 71 71 ARG GLY BREAST-OVARIAN CANCER - FAMILIAL - SUSCEPTIBILITY TO - 1 BRCA1 - ARG71GLY 1775 1775 MET ARG BREAST-OVARIAN CANCER - FAMILIAL - SUSCEPTIBILITY TO - 1 BRCA1 - MET1775ARG 1775 1775 MET LYS BREAST-OVARIAN CANCER - FAMILIAL - SUSCEPTIBILITY TO - 1 BRCA1 - MET1775LYS 1303 1303 ARG GLN EPIDERMOLYSIS BULLOSA - JUNCTIONAL - LOCALISATA VARIANT COL17A1 - ARG1303GLN 633 633 GLY ASP EPIDERMOLYSIS BULLOSA - JUNCTIONAL - NON-HERLITZ TYPE COL17A1 - GLY633ASP 60 60 ARG CYS MENTAL RETARDATION - AUTOSOMAL DOMINANT 3 CDH15 - ARG60CYS 92 92 ARG TRP MENTAL RETARDATION - AUTOSOMAL DOMINANT 3 CDH15 - ARG92TRP 122 122 ALA VAL MENTAL RETARDATION - AUTOSOMAL DOMINANT 3 CDH15 - ALA122VAL 503 503 ARG HIS HYPOTRICHOSIS - CONGENITAL - WITH JUVENILE MACULAR DYSTROPHY CDH3 - ARG503HIS 322 322 ASN ILE ECTODERMAL DYSPLASIA - ECTRODACTYLY - AND MACULAR DYSTROPHY CDH3 - ASN322ILE 463 463 PRO LEU OSTEOPOROSIS - SUSCEPTIBILITY TO CALCR - PRO463LEU 406 406 GLY ARG TIMOTHY SYNDROME CACNA1C - GLY406ARG 402 402 GLY SER TIMOTHY SYNDROME CACNA1C - GLY402SER 490 490 GLY ARG BRUGADA SYNDROME 3 CACNA1C - GLY490ARG 39 39 ALA VAL BRUGADA SYNDROME 3 CACNA1C - ALA39VAL 1239 1239 ARG HIS HYPOKALEMIC PERIODIC PARALYSIS - TYPE 1 CACNA1S - ARG1239HIS 1239 1239 ARG GLY HYPOKALEMIC PERIODIC PARALYSIS - TYPE 1 CACNA1S - ARG1239GLY 528 528 ARG HIS HYPOKALEMIC PERIODIC PARALYSIS - TYPE 1 CACNA1S - ARG528HIS 1086 1086 ARG HIS MALIGNANT HYPERTHERMIA - SUSCEPTIBILITY TO - 5 CACNA1S - ARG1086HIS 897 897 ARG SER HYPOKALEMIC PERIODIC PARALYSIS - TYPE 1 CACNA1S - ARG897SER 876 876 VAL GLU HYPOKALEMIC PERIODIC PARALYSIS - TYPE 1 CACNA1S - VAL876GLU 769 769 ARG GLN MUSCULAR DYSTROPHY - LIMB-GIRDLE - TYPE 2A - AMISH CAPN3 - ARG769GLN 572 572 ARG GLN MUSCULAR DYSTROPHY - LIMB-GIRDLE - TYPE 2A CAPN3 - ARG572GLN 86 86 SER PHE MUSCULAR DYSTROPHY - LIMB-GIRDLE - TYPE 2A CAPN3 - SER86PHE 319 319 PRO LEU MUSCULAR DYSTROPHY - LIMB-GIRDLE - TYPE 2A CAPN3 - PRO319LEU 360 360 TRP ARG MUSCULAR DYSTROPHY - LIMB-GIRDLE - TYPE 2A CAPN3 - 1080G-C - TRP360ARG 490 490 ARG GLN MUSCULAR DYSTROPHY - LIMB-GIRDLE - TYPE 2A CAPN3 - ARG490GLN 307 307 ASP HIS VENTRICULAR TACHYCARDIA - CATECHOLAMINERGIC POLYMORPHIC - 2; CPVT2 CASQ2 - ASP307HIS 167 167 LEU HIS VENTRICULAR TACHYCARDIA - CATECHOLAMINERGIC POLYMORPHIC - 2; CPVT2 CASQ2 - LEU167HIS 14 14 ARG TRP RETINITIS PIGMENTOSA 17 CA4 - ARG14TRP 219 219 ARG SER RETINITIS PIGMENTOSA 17 CA4 - ARG219SER 69 69 ARG HIS RETINITIS PIGMENTOSA 17 CA4 - ARG69HIS 253 254 GLY ARG CARBONIC ANHYDRASE I - GUAM CA1 - GLY253ARG 246 247 ARG HIS CARBONIC ANHYDRASE I DEFICIENCY CA1 - ARG246HIS 100 100 SER PRO CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 3 CA8 - SER100PRO 143 143 GLY GLU CARBOXYLESTERASE 1 DEFICIENCY CES1 - GLY143GLU 356 356 ARG GLU ALBINISM - OCULOCUTANEOUS - TYPE III TYRP1 - ARG356GLU 158 158 VAL MET CATECHOL-O-METHYLTRANSFERASE POLYMORPHISM COMT - VAL158MET 72 72 ALA SER SCHIZOPHRENIA - SUSCEPTIBILITY TO COMT - ALA72SER 33 33 SER TYR COLORECTAL CANCER - SOMATIC PILOMATRICOMA - SOMATIC - INCLUDED CTNNB1 - SER33TYR 41 41 THR ALA HEPATOBLASTOMA - SOMATIC DESMOID TUMOR - SOMATIC - INCLUDED CTNNB1 - THR41ALA 32 32 ASP TYR HEPATOBLASTOMA - SOMATIC PILOMATRICOMA - SOMATIC - INCLUDED CTNNB1 - ASP32TYR 34 34 GLY VAL HEPATOBLASTOMA - SOMATIC CTNNB1 - GLY34VAL 32 32 ASP GLY PILOMATRICOMA - SOMATIC CTNNB1 - ASP32GLY 33 33 SER PHE PILOMATRICOMA - SOMATIC MEDULLOBLASTOMA - SOMATIC - INCLUDED CTNNB1 - SER33PHE 34 34 GLY GLU PILOMATRICOMA - SOMATIC CTNNB1 - GLY34GLU 37 37 SER CYS PILOMATRICOMA - SOMATIC CTNNB1 - SER37CYS 37 37 SER PHE PILOMATRICOMA - SOMATIC CTNNB1 - SER37PHE 41 41 THR ILE PILOMATRICOMA - SOMATIC CTNNB1 - THR41ILE 37 37 SER CYS OVARIAN CANCER - SOMATIC CTNNB1 - SER37CYS 45 45 SER PHE HEPATOCELLULAR CARCINOMA - SOMATIC CTNNB1 - SER45PHE 45 45 SER PRO HEPATOCELLULAR CARCINOMA - SOMATIC CTNNB1 - SER45PRO 32 32 ASP TYR PILOMATRICOMA - SOMATIC CTNNB1 - ASP32TYR 229 229 PHE ILE CEROID LIPOFUSCINOSIS - NEURONAL - 10 CTSD - PHE229ILE 383 383 TRP CYS CEROID LIPOFUSCINOSIS - NEURONAL - 10 CTSD - TRP383CYS 84 84 HIS LEU LEUKEMIA - ACUTE MYELOID - SOMATIC CEBPA - HIS84LEU 31 31 SER ARG CIP1/WAF1 TUMOR-ASSOCIATED POLYMORPHISM 1 CDKN1A - SER31ARG 72 78 VAL ILE SPASTIC PARAPLEGIA 13 HSPD1 - VAL72ILE 29 35 ASP GLY LEUKODYSTROPHY - HYPOMYELINATING - 4 HSPD1 - ASP29GLY 20 20 LEU PHE DUANE RETRACTION SYNDROME 2 CHN1 - LEU20PHE 126 126 ILE MET DUANE RETRACTION SYNDROME 2 CHN1 - ILE126MET 143 143 TYR HIS DUANE RETRACTION SYNDROME 2 CHN1 - TYR143HIS 223 223 ALA VAL DUANE RETRACTION SYNDROME 2 CHN1 - ALA223VAL 228 228 GLY SER DUANE RETRACTION SYNDROME 2 CHN1 - GLY228SER 252 252 PRO GLN DUANE RETRACTION SYNDROME 2 CHN1 - PRO252GLN 313 313 GLU LYS DUANE RETRACTION SYNDROME 2 CHN1 - GLU313LYS 413 413 PHE CYS MYOTONIA CONGENITA - AUTOSOMAL RECESSIVE CLCN1 - PHE413CYS 230 230 GLY GLU MYOTONIA CONGENITA - AUTOSOMAL DOMINANT CLCN1 - GLY230GLU 496 496 ARG SER MYOTONIA CONGENITA - AUTOSOMAL RECESSIVE CLCN1 - ARG496SER 482 482 GLY ARG MYOTONIA CONGENITA - AUTOSOMAL RECESSIVE CLCN1 - GLY482ARG 480 480 PRO LEU MYOTONIA CONGENITA - AUTOSOMAL DOMINANT CLCN1 - PRO480LEU 552 552 GLN ARG MYOTONIA LEVIOR CLCN1 - GLN552ARG 290 290 ILE MET MYOTONIA CONGENITA - AUTOSOMAL DOMINANT CLCN1 - ILE290MET 291 291 GLU LYS MYOTONIA CONGENITA - AUTOSOMAL RECESSIVE CLCN1 - GLU291LYS 317 317 ARG GLN MYOTONIA CONGENITA - AUTOSOMAL RECESSIVE MYOTONIA CONGENITA - AUTOSOMAL DOMINANT - INCLUDED CLCN1 - ARG317GLN 499 499 GLY ARG MYOTONIA CONGENITA - AUTOSOMAL RECESSIVE CLCN1 - GLY499ARG 932 932 PRO LEU MYOTONIA CONGENITA - AUTOSOMAL RECESSIVE CLCN1 - PRO932LEU 128 128 MET VAL MYOTONIA CONGENITA - AUTOSOMAL DOMINANT CLCN1 - MET128VAL 189 189 SER PHE MYOTONIA CONGENITA - AUTOSOMAL DOMINANT CLCN1 - SER189PHE 433 433 TRP ARG MYOTONIA CONGENITA - AUTOSOMAL DOMINANT MYOTONIA CONGENITA - AUTOSOMAL RECESSIVE - INCLUDED CLCN1 - TRP433ARG 21 21 GLY ARG CHOLECYSTOKININ A RECEPTOR POLYMORPHISM CCKAR - GLY21ARG 365 365 VAL ILE CHOLECYSTOKININ A RECEPTOR POLYMORPHISM CCKAR - VAL365ILE 442 237 ASP GLY CHOLESTEROL ESTER TRANSFER PROTEIN DEFICIENCY HYPERALPHALIPOPROTEINEMIA - INCLUDED CETP - ASP442GLY 405 200 ILE VAL HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 10 CETP - ILE405VAL 353 353 ARG TRP ADRENAL INSUFFICIENCY - CONGENITAL - WITH 46 -XY SEX REVERSAL - PARTIAL OR COMPLETE CYP11A1 - ARG353TRP 189 189 ALA VAL ADRENAL INSUFFICIENCY - CONGENITAL - WITH 46 -XY SEX REVERSAL - PARTIAL OR COMPLETE CYP11A1 - ALA189VAL 359 359 ALA VAL ADRENAL INSUFFICIENCY - CONGENITAL - WITH 46 -XY SEX REVERSAL - PARTIAL OR COMPLETE CYP11A1 - ALA359VAL 141 141 LEU TRP ADRENAL INSUFFICIENCY - CONGENITAL - WITH 46 -XY SEX REVERSAL - PARTIAL OR COMPLETE CYP11A1 - LEU141TRP 415 415 VAL GLU ADRENAL INSUFFICIENCY - CONGENITAL - WITH 46 -XY SEX REVERSAL - PARTIAL OR COMPLETE CYP11A1 - VAL415GLU 222 222 LEU PRO ADRENAL INSUFFICIENCY - CONGENITAL - WITH 46 -XY SEX REVERSAL - PARTIAL OR COMPLETE CYP11A1 - LEU222PRO 211 211 PRO ALA MYASTHENIC SYNDROME - CONGENITAL - ASSOCIATED WITH EPISODIC APNEA CHAT - PRO211ALA 441 441 GLU LYS MYASTHENIC SYNDROME - CONGENITAL - ASSOCIATED WITH EPISODIC APNEA CHAT - GLU441LYS 506 506 VAL LEU MYASTHENIC SYNDROME - CONGENITAL - ASSOCIATED WITH EPISODIC APNEA CHAT - VAL506LEU 482 482 ARG GLY MYASTHENIC SYNDROME - CONGENITAL - ASSOCIATED WITH EPISODIC APNEA CHAT - ARG482GLY 560 560 ARG HIS MYASTHENIC SYNDROME - CONGENITAL - ASSOCIATED WITH EPISODIC APNEA CHAT - ARG560HIS 210 210 LEU PRO MYASTHENIC SYNDROME - CONGENITAL - ASSOCIATED WITH EPISODIC APNEA CHAT - LEU210PRO 498 498 SER LEU MYASTHENIC SYNDROME - CONGENITAL - ASSOCIATED WITH EPISODIC APNEA CHAT - SER498LEU 305 305 ILE THR MYASTHENIC SYNDROME - CONGENITAL - ASSOCIATED WITH EPISODIC APNEA CHAT - ILE305THR 420 420 ARG CYS MYASTHENIC SYNDROME - CONGENITAL - ASSOCIATED WITH EPISODIC APNEA CHAT - ARG420CYS 1336 1336 ILE THR MYASTHENIC SYNDROME - CONGENITAL - ASSOCIATED WITH EPISODIC APNEA CHAT - ILE1336THR 279 279 ILE ASN EPILEPSY - NOCTURNAL FRONTAL LOBE - TYPE 4 CHRNA2 - ILE279ASN 252 258 SER PHE EPILEPSY - NOCTURNAL FRONTAL LOBE - TYPE 1 CHRNA4 - SER252PHE 252 258 SER LEU EPILEPSY - NOCTURNAL FRONTAL LOBE - TYPE 1 CHRNA4 - SER252LEU 398 398 ASP ASN LUNG CANCER SUSCEPTIBILITY 2 CHRNA5 - ASP398ASN - dbSNP rs16969968 287 287 VAL LEU EPILEPSY - NOCTURNAL FRONTAL LOBE - TYPE 3 CHRNB2 - VAL287LEU 287 287 VAL MET EPILEPSY - NOCTURNAL FRONTAL LOBE - TYPE 3 CHRNB2 - VAL287MET 1015 1015 GLY GLU HEMATURIA - BENIGN FAMILIAL COL4A3 - GLY1015GLU 985 985 GLY VAL HEMATURIA - BENIGN FAMILIAL COL4A3 - GLY985VAL 1167 1167 GLY ARG ALPORT SYNDROME - AUTOSOMAL DOMINANT COL4A3 - GLY1167ARG 598 598 TYR ASP METAPHYSEAL CHONDRODYSPLASIA - SCHMID TYPE COL10A1 - TYR598ASP 614 614 LEU PRO METAPHYSEAL CHONDRODYSPLASIA - SCHMID TYPE COL10A1 - LEU614PRO 591 591 CYS ARG METAPHYSEAL CHONDRODYSPLASIA - SCHMID TYPE COL10A1 - CYS591ARG 651 651 TRP ARG METAPHYSEAL CHONDRODYSPLASIA - SCHMID TYPE COL10A1 - TRP651ARG 18 18 GLY ARG METAPHYSEAL CHONDRODYSPLASIA - SCHMID TYPE COL10A1 - GLY18ARG 18 18 GLY GLU METAPHYSEAL CHONDRODYSPLASIA - SCHMID TYPE COL10A1 - GLY18GLU 671 671 SER PRO METAPHYSEAL CHONDRODYSPLASIA - SCHMID TYPE COL10A1 - SER671PRO 595 595 GLY GLU METAPHYSEAL CHONDRODYSPLASIA - SCHMID TYPE COL10A1 - GLY595GLU 597 597 TYR CYS METAPHYSEAL CHONDRODYSPLASIA - SCHMID TYPE COL10A1 - TYR597CYS 600 600 SER PRO METAPHYSEAL CHONDRODYSPLASIA - SCHMID TYPE COL10A1 - SER600PRO 2798 2798 MET LYS EPIDERMOLYSIS BULLOSA DYSTROPHICA - AUTOSOMAL RECESSIVE COL7A1 - MET2798LYS 2040 2040 GLY SER EPIDERMOLYSIS BULLOSA DYSTROPHICA - AUTOSOMAL DOMINANT COL7A1 - GLY2040SER 2623 2623 GLY CYS EPIDERMOLYSIS BULLOSA - PRETIBIAL COL7A1 - GLY2623CYS 2003 2003 GLY ARG EPIDERMOLYSIS BULLOSA DYSTROPHICA - BART TYPE COL7A1 - GLY2003ARG 1347 1347 GLY ARG EPIDERMOLYSIS BULLOSA DYSTROPHICA - AUTOSOMAL RECESSIVE - LOCALISATA VARIANT COL7A1 - GLY1347ARG 2251 2251 GLY GLU TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN TOENAIL DYSTROPHY - ISOLATED - INCLUDED;; EPIDERMOLYSIS BULLOSA PRURIGINOSA - AUTOSOMAL DOMINANT - INCLUDED COL7A1 - GLY2251GLU 1519 1519 GLY ASP TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN COL7A1 - GLY1519ASP 2043 2043 GLY ARG EPIDERMOLYSIS BULLOSA DYSTROPHICA - AUTOSOMAL DOMINANT COL7A1 - GLY2043ARG 2242 2242 GLY ARG EPIDERMOLYSIS BULLOSA PRURIGINOSA - AUTOSOMAL DOMINANT COL7A1 - GLY2242ARG 2031 2031 GLY SER EPIDERMOLYSIS BULLOSA DYSTROPHICA - AUTOSOMAL RECESSIVE COL7A1 - GLY2031SER 2287 2287 GLY ARG TOENAIL DYSTROPHY - ISOLATED COL7A1 - GLY2287ARG 1595 1595 GLY ARG TOENAIL DYSTROPHY - ISOLATED COL7A1 - GLY1595ARG 1815 1815 GLY ARG TOENAIL DYSTROPHY - ISOLATED COL7A1 - GLY1815ARG 2006 2006 GLY ASP EPIDERMOLYSIS BULLOSA DYSTROPHICA - AUTOSOMAL DOMINANT COL7A1 - GLY2006ASP 2015 2015 GLY GLU EPIDERMOLYSIS BULLOSA DYSTROPHICA - AUTOSOMAL DOMINANT COL7A1 - GLY2015GLU 2034 2034 GLY ARG EPIDERMOLYSIS BULLOSA DYSTROPHICA - AUTOSOMAL DOMINANT COL7A1 - GLY2034ARG 1699 1699 PRO LEU EPIDERMOLYSIS BULLOSA - PRETIBIAL - AUTOSOMAL RECESSIVE COL7A1 - PRO1699LEU 2037 2037 GLY GLU EPIDERMOLYSIS BULLOSA DYSTROPHICA - AUTOSOMAL DOMINANT COL7A1 - GLY2037GLU 2073 2073 GLY VAL EPIDERMOLYSIS BULLOSA PRURIGINOSA - AUTOSOMAL DOMINANT COL7A1 - GLY2073VAL 2063 2063 ARG TRP EPIDERMOLYSIS BULLOSA DYSTROPHICA - AUTOSOMAL RECESSIVE COL7A1 - ARG2063TRP 2076 2076 GLY ASP EPIDERMOLYSIS BULLOSA DYSTROPHICA - AUTOSOMAL DOMINANT COL7A1 - GLY2076ASP 2653 2653 GLY ARG EPIDERMOLYSIS BULLOSA DYSTROPHICA - AUTOSOMAL RECESSIVE COL7A1 - GLY2653ARG 2749 2749 GLY ARG EPIDERMOLYSIS BULLOSA DYSTROPHICA - AUTOSOMAL RECESSIVE COL7A1 - GLY2749ARG 142 142 LYS ARG EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA - AUTOSOMAL RECESSIVE COL7A1 - ARG2069CYS 2069 2069 ARG CYS EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA - AUTOSOMAL RECESSIVE COL7A1 - ARG2069CYS 1236 1236 GLY ARG PORENCEPHALY - FAMILIAL COL4A1 - GLY1236ARG 749 749 GLY SER PORENCEPHALY - FAMILIAL COL4A1 - GLY749SER 562 562 GLY GLU BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE COL4A1 - GLY562GLU 1 1 MET LEU PORENCEPHALY - FAMILIAL COL4A1 - MET1LEU 1130 1130 GLY ASP PORENCEPHALY - FAMILIAL COL4A1 - GLY1130ASP 1423 1423 GLY ARG PORENCEPHALY - FAMILIAL COL4A1 - GLY1423ARG 498 498 GLY VAL ANGIOPATHY - HEREDITARY - WITH NEPHROPATHY - ANEURYSMS - AND MUSCLE CRAMPS COL4A1 - GLY498VAL 519 519 GLY ARG ANGIOPATHY - HEREDITARY - WITH NEPHROPATHY - ANEURYSMS - AND MUSCLE CRAMPS COL4A1 - GLY519ARG 528 528 GLY GLU ANGIOPATHY - HEREDITARY - WITH NEPHROPATHY - ANEURYSMS - AND MUSCLE CRAMPS COL4A1 - GLY528GLU 720 720 GLY ASP BRAIN SMALL VESSEL DISEASE WITH AXENFELD-RIEGER ANOMALY COL4A1 - GLY720ASP 1580 1580 GLY ARG PORENCEPHALY COL4A1 - GLY1580ARG 498 498 GLY ARG ANGIOPATHY - HEREDITARY - WITH NEPHROPATHY - ANEURYSMS - AND MUSCLE CRAMPS COL4A1 - GLY498ARG 510 510 GLY ARG ANGIOPATHY - HEREDITARY - WITH NEPHROPATHY - ANEURYSMS - AND MUSCLE CRAMPS COL4A1 - GLY510ARG 525 525 GLY LEU ANGIOPATHY - HEREDITARY - WITH NEPHROPATHY - ANEURYSMS - AND MUSCLE CRAMPS COL4A1 - GLY525LEU 1201 1201 GLY SER ALPORT SYNDROME - AUTOSOMAL RECESSIVE COL4A4 - GLY1201SER 897 897 GLY GLU HEMATURIA - BENIGN FAMILIAL COL4A4 - GLY897GLU 1572 1572 PRO LEU ALPORT SYNDROME - AUTOSOMAL RECESSIVE COL4A4 - PRO1572LEU 960 960 GLY ARG HEMATURIA - BENIGN FAMILIAL COL4A4 - GLY960ARG 943 1143 GLY SER ACHONDROGENESIS-HYPOCHONDROGENESIS - TYPE II COL2A1 - GLY943SER 519 719 ARG CYS OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA OSTEOARTHRITIS WITH MILD SPONDYLOEPIPHYSEAL DYSPLASIA - INCLUDED COL2A1 - ARG519CYS 574 774 GLY SER HYPOCHONDROGENESIS COL2A1 - GLY574SER 853 1053 GLY GLU HYPOCHONDROGENESIS COL2A1 - GLY853GLU 997 1197 GLY SER SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA COL2A1 - GLY997SER 154 354 GLY ARG SPONDYLOMETAPHYSEAL DYSPLASIA - CONGENITAL TYPE COL2A1 - GLY154ARG 67 267 GLY ASP STICKLER SYNDROME - TYPE I - NONSYNDROMIC OCULAR COL2A1 - GLY67ASP 789 989 ARG CYS SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA COL2A1 - ARG789CYS 709 909 GLY CYS SPONDYLOEPIMETAPHYSEAL DYSPLASIA - STRUDWICK TYPE COL2A1 - GLY709CYS 75 275 ARG CYS SPONDYLOEPIPHYSEAL DYSPLASIA WITH PRECOCIOUS OSTEOARTHRITIS COL2A1 - ARG75CYS 103 303 GLY ASP KNIEST DYSPLASIA COL2A1 - GLY103ASP 769 969 GLY SER ACHONDROGENESIS - TYPE II COL2A1 - GLY769SER 691 891 GLY ARG ACHONDROGENESIS - TYPE II COL2A1 - GLY691ARG 304 504 GLY CYS SPONDYLOEPIMETAPHYSEAL DYSPLASIA - STRUDWICK TYPE COL2A1 - GLY304CYS 292 492 GLY VAL SPONDYLOEPIMETAPHYSEAL DYSPLASIA - STRUDWICK TYPE COL2A1 - GLY292VAL 704 904 ARG CYS EPIPHYSEAL DYSPLASIA - MULTIPLE - WITH MYOPIA AND CONDUCTIVE DEAFNESS COL2A1 - ARG704CYS 973 1173 GLY ARG SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA COL2A1 - GLY973ARG 365 565 ARG CYS STICKLER SYNDROME - TYPE I COL2A1 - ARG365CYS 467 667 LEU PHE STICKLER SYNDROME - TYPE I - NONSYNDROMIC OCULAR COL2A1 - LEU467PHE 1370 1370 THR MET SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA COL2A1 - THR1370MET 1105 1305 GLY ASP VITREORETINOPATHY WITH PHALANGEAL EPIPHYSEAL DYSPLASIA COL2A1 - GLY1105ASP 316 516 GLY ASP ACHONDROGENESIS - TYPE II COL2A1 - GLY316ASP 1391 1391 TYR CYS PLATYSPONDYLIC SKELETAL DYSPLASIA - TORRANCE TYPE COL2A1 - TYR1391CYS 1170 1170 GLY SER AVASCULAR NECROSIS OF THE FEMORAL HEAD - PRIMARY LEGG-CALVE-PERTHES DISEASE - INCLUDED COL2A1 - GLY1170SER 717 717 GLY SER AVASCULAR NECROSIS OF THE FEMORAL HEAD - PRIMARY COL2A1 - GLY717SER 118 318 GLY ARG RHEGMATOGENOUS RETINAL DETACHMENT - AUTOSOMAL DOMINANT COL2A1 - GLY118ARG 792 992 ARG GLY SPONDYLOEPIMETAPHYSEAL DYSPLASIA - STRUDWICK TYPE COL2A1 - ARG792GLY 57 57 CYS TYR STICKLER SYNDROME - TYPE I - NONSYNDROMIC OCULAR COL2A1 - CYS57TYR 346 546 GLY VAL ACHONDROGENESIS - TYPE II COL2A1 - GLY346VAL 97 275 GLY ASP OSTEOGENESIS IMPERFECTA - TYPE II COL1A1 - GLY97ASP 94 272 GLY CYS OSTEOGENESIS IMPERFECTA - TYPE I COL1A1 - GLY94CYS 175 353 GLY CYS OSTEOGENESIS IMPERFECTA - TYPE IV COL1A1 - GLY175CYS 391 569 GLY ARG OSTEOGENESIS IMPERFECTA - TYPE II COL1A1 - GLY391ARG 526 704 GLY CYS OSTEOGENESIS IMPERFECTA - TYPE III COL1A1 - GLY526CYS 559 737 GLY ASP OSTEOGENESIS IMPERFECTA - TYPE II COL1A1 - GLY559ASP 673 851 GLY ASP OSTEOGENESIS IMPERFECTA - TYPE II COL1A1 - GLY673ASP 667 845 GLY ARG OSTEOGENESIS IMPERFECTA - TYPE II COL1A1 - GLY667ARG 691 869 GLY CYS OSTEOGENESIS IMPERFECTA - TYPE II COL1A1 - GLY691CYS 718 896 GLY CYS OSTEOGENESIS IMPERFECTA - TYPE II COL1A1 - GLY718CYS 748 926 GLY CYS OSTEOGENESIS IMPERFECTA - TYPE II COL1A1 - GLY748CYS 832 1010 GLY SER OSTEOGENESIS IMPERFECTA - TYPE IV COL1A1 - GLY832SER 844 1022 GLY SER OSTEOGENESIS IMPERFECTA - TYPE III COL1A1 - GLY844SER 847 1025 GLY ARG OSTEOGENESIS IMPERFECTA - TYPE II COL1A1 - GLY847ARG 883 1061 GLY ASP OSTEOGENESIS IMPERFECTA - TYPE II COL1A1 - GLY883ASP 904 1082 GLY CYS OSTEOGENESIS IMPERFECTA - TYPE II COL1A1 - GLY904CYS 913 1091 GLY SER OSTEOGENESIS IMPERFECTA - TYPE II COL1A1 - GLY913SER 988 1166 GLY CYS OSTEOGENESIS IMPERFECTA - TYPE II COL1A1 - GLY988CYS 1009 1187 GLY SER OSTEOGENESIS IMPERFECTA - TYPE II COL1A1 - GLY1009SER 1017 1195 GLY CYS OSTEOGENESIS IMPERFECTA COL1A1 - GLY1017CYS 1017 1195 GLY CYS OSTEOGENESIS IMPERFECTA COL1A1 - GLY1017CYS 178 356 GLY CYS OSTEOGENESIS IMPERFECTA - TYPE I COL1A1 - GLY178CYS 541 719 GLY ASP OSTEOGENESIS IMPERFECTA - TYPE II COL1A1 - GLY541ASP 154 332 GLY ARG OSTEOGENESIS IMPERFECTA - TYPE III COL1A1 - GLY154ARG 1003 1181 GLY SER OSTEOGENESIS IMPERFECTA - TYPE II COL1A1 - GLY1003SER 637 815 GLY VAL OSTEOGENESIS IMPERFECTA - TYPE II COL1A1 - GLY637VAL 415 593 GLY CYS OSTEOGENESIS IMPERFECTA - TYPE III/IV COL1A1 - GLY415CYS 85 263 GLY ARG OSTEOGENESIS IMPERFECTA COL1A1 - GLY85ARG 1006 1184 GLY VAL OSTEOGENESIS IMPERFECTA - TYPE IIC COL1A1 - GLY1006VAL 973 1151 GLY VAL OSTEOGENESIS IMPERFECTA - TYPE IIA COL1A1 - GLY973VAL 256 434 GLY VAL OSTEOGENESIS IMPERFECTA - TYPE IIA COL1A1 - GLY256VAL 43 221 GLY CYS OSTEOPENIC NONFRACTURE SYNDROME COL1A1 - GLY43CYS 901 1079 GLY SER OSTEOGENESIS IMPERFECTA - TYPE I COL1A1 - GLY901SER 802 980 GLY VAL OSTEOGENESIS IMPERFECTA - TYPE II COL1A1 - GLY802VAL 352 530 GLY SER OSTEOGENESIS IMPERFECTA - TYPE III COL1A1 - GLY352SER 415 593 GLY SER OSTEOGENESIS IMPERFECTA - TYPE II COL1A1 - GLY415SER 565 743 GLY VAL OSTEOGENESIS IMPERFECTA - TYPE II COL1A1 - GLY565VAL 355 533 GLY ASP OSTEOGENESIS IMPERFECTA - TYPE II COL1A1 - GLY355ASP 862 1040 GLY SER OSTEOGENESIS IMPERFECTA - TYPE III COL1A1 - GLY862SER 661 839 GLY SER OSTEOGENESIS IMPERFECTA - TYPE III COL1A1 - GLY661SER 13 191 GLY ALA OSTEOGENESIS IMPERFECTA - TYPE I - MILD COL1A1 - GLY13ALA 94 94 TRP CYS OSTEOGENESIS IMPERFECTA - TYPE II - THIN-BONE TYPE COL1A1 - TRP94CYS 586 764 GLY VAL OSTEOGENESIS IMPERFECTA - TYPE II COL1A1 - GLY586VAL 134 312 ARG CYS EHLERS-DANLOS SYNDROME - TYPE I COL1A1 - ARG134CYS 836 1014 ARG CYS CAFFEY DISEASE PRENATAL CORTICAL HYPEROSTOSIS - LETHAL - INCLUDED COL1A1 - ARG836CYS 13 191 GLY ASP OI/EDS COMBINED SYNDROME COL1A1 - GLY13ASP 76 254 GLY GLU OSTEOGENESIS IMPERFECTA - TYPE III COL1A1 - GLY76GLU 1012 1003 GLY ARG OSTEOGENESIS IMPERFECTA - TYPE IV COL1A2 - GLY1012ARG 907 898 GLY ASP OSTEOGENESIS IMPERFECTA - TYPE II COL1A2 - GLY907ASP 547 538 GLY ASP OSTEOGENESIS IMPERFECTA - TYPE II COL1A2 - GLY547ASP 865 856 GLY SER OSTEOGENESIS IMPERFECTA - TYPE II COL1A2 - GLY865SER 646 637 GLY CYS OSTEOGENESIS IMPERFECTA - TYPE IV COL1A2 - GLY646CYS 976 967 GLY ASP OSTEOGENESIS IMPERFECTA - TYPE II COL1A2 - GLY976ASP 805 796 GLY ASP OSTEOGENESIS IMPERFECTA - TYPE II COL1A2 - GLY805ASP 259 250 GLY CYS OSTEOGENESIS IMPERFECTA - TYPE II COL1A2 - GLY259CYS 472 463 GLY CYS OSTEOGENESIS IMPERFECTA - TYPE II COL1A2 - GLY472CYS 618 609 ARG GLN RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE COL1A2 - ARG618GLN 586 577 GLY VAL OSTEOGENESIS IMPERFECTA - TYPE IV OSTEOGENESIS IMPERFECTA - TYPE III - INCLUDED COL1A2 - GLY586VAL 694 685 GLY ARG OSTEOGENESIS IMPERFECTA - TYPE II COL1A2 - GLY694ARG 580 571 GLY ASP OSTEOGENESIS IMPERFECTA - TYPE II COL1A2 - GLY580ASP 661 652 GLY SER OSTEOPOROSIS - POSTMENOPAUSAL COL1A2 - GLY661SER 859 850 GLY SER OSTEOGENESIS IMPERFECTA - TYPE III COL1A2 - GLY859SER 502 493 GLY SER OSTEOGENESIS IMPERFECTA - TYPE II COL1A2 - GLY502SER 1006 997 GLY ALA OSTEOGENESIS IMPERFECTA - TYPE III COL1A2 - GLY1006ALA 586 577 GLY VAL OSTEOGENESIS IMPERFECTA - TYPE III COL1A2 - GLY586VAL 751 742 GLY SER OSTEOGENESIS IMPERFECTA - TYPE III COL1A2 - GLY751SER 277 268 GLY TYR OSTEOGENESIS IMPERFECTA - TYPE III COL1A2 - GLY277TYR 379 370 GLY ALA OSTEOGENESIS IMPERFECTA - TYPE IV COL1A2 - GLY379ALA 421 412 GLY ASP OSTEOGENESIS IMPERFECTA - TYPE II COL1A2 - GLY421ASP 1090 1081 GLY ASP OSTEOGENESIS IMPERFECTA - TYPE III COL1A2 - GLY1090ASP 1099 1090 GLY ARG OSTEOGENESIS IMPERFECTA - TYPE III COL1A2 - GLY1099ARG 790 948 GLY SER EHLERS-DANLOS SYNDROME - TYPE IV COL3A1 - GLY790SER 619 777 GLY ARG EHLERS-DANLOS SYNDROME - TYPE IV - VARIANT COL3A1 - GLY619ARG 883 1041 GLY ASP EHLERS-DANLOS SYNDROME - TYPE IV COL3A1 - GLY883ASP 531 689 ALA THR COLLAGEN TYPE III POLYMORPHISM COL3A1 - ALA531THR 910 1068 GLY VAL EHLERS-DANLOS SYNDROME - TYPE IV COL3A1 - GLY910VAL 847 1005 GLY GLU EHLERS-DANLOS SYNDROME - TYPE IV COL3A1 - GLY847GLU 1018 1176 GLY ASP EHLERS-DANLOS SYNDROME - TYPE IV COL3A1 - GLY1018ASP 1006 1164 GLY GLU EHLERS-DANLOS SYNDROME - TYPE IV COL3A1 - GLY1006GLU 1021 1179 GLY GLU EHLERS-DANLOS SYNDROME - TYPE IV COL3A1 - GLY1021GLU 136 294 GLY ARG EHLERS-DANLOS SYNDROME - TYPE IV COL3A1 - GLY136ARG 637 795 GLY SER EHLERS-DANLOS SYNDROME - TYPE III COL3A1 - GLY637SER 499 657 GLY ASP EHLERS-DANLOS SYNDROME - TYPE IV COL3A1 - GLY499ASP 793 951 GLY VAL EHLERS-DANLOS SYNDROME - TYPE IV COL3A1 - GLY793VAL 415 573 GLY SER EHLERS-DANLOS SYNDROME - TYPE IV COL3A1 - GLY415SER 934 1092 GLY GLU EHLERS-DANLOS SYNDROME - TYPE IV COL3A1 - GLY934GLU 571 729 GLY SER EHLERS-DANLOS SYNDROME - TYPE IV COL3A1 - GLY571SER 16 174 GLY SER EHLERS-DANLOS SYNDROME - TYPE IV COL3A1 - GLY16SER 82 240 GLY ASP EHLERS-DANLOS SYNDROME - TYPE IV COL3A1 - GLY82ASP 373 531 GLY ARG EHLERS-DANLOS SYNDROME - TYPE IV COL3A1 - GLY373ARG 385 543 GLY GLU EHLERS-DANLOS SYNDROME - TYPE IV COL3A1 - GLY385GLU 130 288 GLY ARG EHLERS-DANLOS SYNDROME - TYPE IV COL3A1 - GLY130ARG 883 1041 GLY VAL EHLERS-DANLOS SYNDROME - TYPE IV COL3A1 - GLY883VAL 934 933 GLY ARG EHLERS-DANLOS SYNDROME - TYPE II COL5A2 - GLY934ARG 1181 1181 CYS SER EHLERS-DANLOS SYNDROME - TYPE I COL5A1 - CYS1181SER 1489 1489 GLY GLU EHLERS-DANLOS SYNDROME - TYPE I COL5A1 - GLY1489GLU 286 286 GLY VAL BETHLEM MYOPATHY COL6A1 - GLY286VAL 341 341 GLY ASP BETHLEM MYOPATHY COL6A1 - GLY341ASP 121 121 LYS ARG BETHLEM MYOPATHY COL6A1 - LYS121ARG 284 284 GLY ARG ULLRICH CONGENITAL MUSCULAR DYSTROPHY - AUTOSOMAL DOMINANT COL6A1 - GLY284ARG 290 290 GLY ARG ULLRICH CONGENITAL MUSCULAR DYSTROPHY - AUTOSOMAL DOMINANT COL6A1 - GLY290ARG 281 281 GLY ARG ULLRICH CONGENITAL MUSCULAR DYSTROPHY - DIGENIC - COL6A1/COL6A2 COL6A1 - GLY281ARG 250 250 GLY SER BETHLEM MYOPATHY COL6A2 - GLY250SER 620 620 ASP ASN BETHLEM MYOPATHY COL6A2 - ASP620ASN 932 932 PRO LEU BETHLEM MYOPATHY COL6A2 - PRO932LEU 777 777 CYS ARG ULLRICH CONGENITAL MUSCULAR DYSTROPHY - AUTOSOMAL RECESSIVE COL6A2 - CYS777ARG 283 283 GLY ARG ULLRICH CONGENITAL MUSCULAR DYSTROPHY - AUTOSOMAL DOMINANT COL6A2 - GLY283ARG 498 498 ARG HIS ULLRICH CONGENITAL MUSCULAR DYSTROPHY - DIGENIC - COL6A1/COL6A2 COL6A2 - ARG498HIS 624 624 GLU LYS ULLRICH CONGENITAL MUSCULAR DYSTROPHY - AUTOSOMAL RECESSIVE COL6A2 - GLU624LYS 876 876 ARG SER ULLRICH CONGENITAL MUSCULAR DYSTROPHY - AUTOSOMAL RECESSIVE COL6A2 - ARG876SER 843 843 ARG TRP BETHLEM MYOPATHY - AUTOSOMAL RECESSIVE COL6A2 - ARG830GLN AND ARG843TRP 830 830 ARG GLN BETHLEM MYOPATHY - AUTOSOMAL RECESSIVE COL6A2 - ARG830GLN AND ARG843TRP 871 871 ASP ASN BETHLEM MYOPATHY - AUTOSOMAL RECESSIVE COL6A2 - ASP871ASN 1679 1679 GLY GLU BETHLEM MYOPATHY COL6A3 - GLY1679GLU 1726 1726 LEU ARG BETHLEM MYOPATHY COL6A3 - LEU1726ARG 455 455 GLN LYS CORNEAL DYSTROPHY - FUCHS ENDOTHELIAL - 1 CORNEAL DYSTROPHY - POLYMORPHOUS POSTERIOR - 2 - INCLUDED COL8A2 - GLN455LYS 450 450 LEU TRP CORNEAL DYSTROPHY - FUCHS ENDOTHELIAL - 1 CORNEAL DYSTROPHY - POLYMORPHOUS POSTERIOR - 2 - INCLUDED COL8A2 - LEU450TRP 326 326 GLN TRP INTERVERTEBRAL DISC DISEASE - SUSCEPTIBILITY TO COL9A2 - GLN326TRP 103 103 ARG TRP INTERVERTEBRAL DISC DISEASE - SUSCEPTIBILITY TO COL9A3 - ARG103TRP 97 202 GLY VAL STICKLER SYNDROME - TYPE II COL11A1 - GLY97VAL 988 1093 GLY VAL MARSHALL/STICKLER SYNDROME COL11A1 - GLY988VAL 175 175 GLY ARG OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA COL11A2 - GLY175ARG 955 955 GLY GLU WEISSENBACHER-ZWEYMULLER SYNDROME OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA - HETEROZYGOUS - INCLUDED COL11A2 - GLY955GLU 549 549 ARG CYS DEAFNESS - AUTOSOMAL DOMINANT 13 COL11A2 - ARG549CYS 323 323 GLY GLU DEAFNESS - AUTOSOMAL DOMINANT 13 COL11A2 - GLY323GLU 621 621 PRO THR DEAFNESS - AUTOSOMAL RECESSIVE 53 COL11A2 - PRO621THR 1437 1437 ASP ASN KNOBLOCH SYNDROME - TYPE I COL18A1 - ASP1437ASN 101 101 ARG HIS TORG-WINCHESTER SYNDROME MMP2 - ARG101HIS 404 404 GLU LYS TORG-WINCHESTER SYNDROME MMP2 - GLU404LYS 1 1 MET LYS METAPHYSEAL ANADYSPLASIA 2 - AUTOSOMAL RECESSIVE MMP9 - MET1LYS 44 44 SER PHE COLORECTAL CANCER - HEREDITARY NONPOLYPOSIS - TYPE 2 MLH1 - SER44PHE 329 329 HIS PRO COLORECTAL CANCER - HEREDITARY NONPOLYPOSIS - TYPE 2 MLH1 - HIS329PRO 67 67 GLY TRP COLORECTAL CANCER - HEREDITARY NONPOLYPOSIS - TYPE 2 MISMATCH REPAIR CANCER SYNDROME - INCLUDED MLH1 - GLY67TRP 618 618 LYS ALA RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE MLH1 - LYS618ALA 578 578 GLU GLY COLORECTAL CANCER - HEREDITARY NONPOLYPOSIS - TYPE 2 MLH1 - GLU578GLY 117 117 THR MET COLORECTAL CANCER - HEREDITARY NONPOLYPOSIS - TYPE 2 MLH1 - THR117MET 132 132 ASP HIS COLORECTAL CANCER - SPORADIC - SUSCEPTIBILITY TO MLH1 - ASP132HIS 648 648 PRO SER COLORECTAL CANCER - HEREDITARY NONPOLYPOSIS - TYPE 2 MISMATCH REPAIR CANCER SYNDROME - INCLUDED MLH1 - PRO648SER 681 681 ALA THR COLORECTAL CANCER - HEREDITARY NONPOLYPOSIS - TYPE 2 MLH1 - ALA681THR 35 35 MET ASN MISMATCH REPAIR CANCER SYNDROME COLORECTAL CANCER - HEREDITARY NONPOLYPOSIS - TYPE 2 - INCLUDED MLH1 - MET35ASN 67 67 GLY GLU COLORECTAL CANCER - HEREDITARY NONPOLYPOSIS - TYPE 2 MLH1 - GLY67GLU 265 265 ARG CYS COLORECTAL CANCER - HEREDITARY NONPOLYPOSIS - TYPE 2 MLH1 - ARG265CYS 168 168 MET THR ESOPHAGEAL CARCINOMA - SOMATIC DCC - MET168THR 102 102 ARG GLY MACULAR DEGENERATION - AGE-RELATED - 9 - SUSCEPTIBILITY TO C3S/C3F POLYMORPHISM C3 - ARG102GLY 314 314 LEU PRO C3 POLYMORPHISM - HAV 4-1 PLUS/MINUS TYPE C3 - LEU314PRO 570 570 ARG GLN HEMOLYTIC UREMIC SYNDROME - ATYPICAL - SUSCEPTIBILITY TO - 5 C3 - ARG570GLN 1072 1072 ALA VAL HEMOLYTIC UREMIC SYNDROME - ATYPICAL - SUSCEPTIBILITY TO - 5 C3 - ALA1072VAL 1093 1093 ASP ASN HEMOLYTIC UREMIC SYNDROME - ATYPICAL - SUSCEPTIBILITY TO - 5 C3 - ASP1093ASN 372 372 LYS ARG COMPLEMENT COMPONENT 5 DEFICIENCY C5 - LYS372ARG - EX10DEL 206 214 SER PRO HEMOLYTIC UREMIC SYNDROME - ATYPICAL - SUSCEPTIBILITY TO - 2 MCP - SER206PRO 1 9 CYS TYR HEMOLYTIC UREMIC SYNDROME - ATYPICAL - SUSCEPTIBILITY TO - 2 MCP - CYS1TYR 98 98 CYS GLY C9 DEFICIENCY C9 - CYS98GLY 34 34 MET THR DEAFNESS - AUTOSOMAL RECESSIVE 1A GJB2 - MET34THR 77 77 TRP ARG DEAFNESS - AUTOSOMAL RECESSIVE 1A GJB2 - TRP77ARG 184 184 ARG PRO DEAFNESS - AUTOSOMAL RECESSIVE 1A GJB2 - ARG184PRO 143 143 ARG TRP DEAFNESS - AUTOSOMAL RECESSIVE 1A GJB2 - ARG143TRP 75 75 ARG TRP DEAFNESS - AUTOSOMAL DOMINANT 3A GJB2 - ARG75TRP 66 66 ASP HIS VOHWINKEL SYNDROME GJB2 - ASP66HIS 59 59 GLY ALA KERATODERMA - PALMOPLANTAR - WITH DEAFNESS GJB2 - GLY59ALA 90 90 LEU PRO DEAFNESS - AUTOSOMAL RECESSIVE 1A GJB2 - LEU90PRO 143 143 ARG GLN DEAFNESS - AUTOSOMAL DOMINANT 3A DEAFNESS - AUTOSOMAL RECESSIVE 1A - INCLUDED GJB2 - ARG143GLN 202 202 CYS PHE DEAFNESS - AUTOSOMAL DOMINANT 3A GJB2 - CYS202PHE 44 44 TRP CYS DEAFNESS - AUTOSOMAL DOMINANT 3A GJB2 - TRP44CYS 50 50 ASP ASN KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME - AUTOSOMAL DOMINANT HYSTRIX-LIKE ICHTHYOSIS WITH DEAFNESS - INCLUDED GJB2 - ASP50ASN 12 12 GLY ARG KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME GJB2 - GLY12ARG 17 17 SER PHE KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME GJB2 - SER17PHE 37 37 VAL ILE DEAFNESS - AUTOSOMAL RECESSIVE 1A GJB2 - VAL37ILE 159 159 ASP VAL DEAFNESS - AUTOSOMAL RECESSIVE 1A GJB2 - ASP159VAL 75 75 ARG GLN KERATODERMA - PALMOPLANTAR - WITH DEAFNESS DEAFNESS - AUTOSOMAL DOMINANT 3A - INCLUDED GJB2 - ARG75GLN 50 50 ASP TYR KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME GJB2 - ASP50TYR 179 179 ASP ASN DEAFNESS - AUTOSOMAL DOMINANT 3A GJB2 - ASP179ASN 54 54 ASN LYS KNUCKLE PADS - LEUKONYCHIA - AND SENSORINEURAL DEAFNESS GJB2 - ASN54LYS 44 44 TRP SER DEAFNESS - AUTOSOMAL DOMINANT 3A GJB2 - TRP44SER 84 84 VAL LEU DEAFNESS - AUTOSOMAL RECESSIVE 1A GJB2 - VAL84LEU 45 45 GLY GLU KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME GJB2 - GLY45GLU 59 59 GLY SER KNUCKLE PADS - LEUKONYCHIA - AND SENSORINEURAL DEAFNESS GJB2 - GLY59SER 84 84 VAL MET DEAFNESS - AUTOSOMAL RECESSIVE 1A GJB2 - VAL84MET 73 73 HIS ARG KERATODERMA - PALMOPLANTAR - WITH DEAFNESS GJB2 - HIS73ARG 96 96 ALA SER ATRIAL FIBRILLATION GJA5 - ALA96SER 88 88 PRO SER ATRIAL FIBRILLATION - SOMATIC GJA5 - PRO88SER 17 17 TYR SER OCULODENTODIGITAL DYSPLASIA GJA1 - TYR17SER 18 18 SER PRO OCULODENTODIGITAL DYSPLASIA GJA1 - SER18PRO 21 21 GLY ARG OCULODENTODIGITAL DYSPLASIA GJA1 - GLY21ARG 22 22 GLY GLU OCULODENTODIGITAL DYSPLASIA GJA1 - GLY22GLU 143 143 GLY SER SYNDACTYLY - TYPE III GJA1 - GLY143SER 96 96 VAL MET OCULODENTODIGITAL DYSPLASIA GJA1 - VAL96MET 362 362 ARG GLN HYPOPLASTIC LEFT HEART SYNDROME ATRIOVENTRICULAR SEPTAL DEFECT - INCLUDED GJA1 - ARG362GLN 376 376 ARG GLN HYPOPLASTIC LEFT HEART SYNDROME ATRIOVENTRICULAR SEPTAL DEFECT - INCLUDED GJA1 - ARG376GLN 194 194 HIS PRO OCULODENTODIGITAL DYSPLASIA GJA1 - HIS194PRO 11 11 LEU PRO OCULODENTODIGITAL DYSPLASIA GJA1 - LEU11PRO 76 76 ARG HIS HALLERMANN-STREIFF SYNDROME GJA1 - ARG76HIS 76 76 ARG SER OCULODENTODIGITAL DYSPLASIA GJA1 - ARG76SER 63 63 ASN SER CATARACT - ZONULAR PULVERULENT - 3 GJA3 - ASN63SER 187 187 PRO LEU CATARACT - ZONULAR PULVERULENT - 3 GJA3 - PRO187LEU 76 76 ARG HIS CATARACT - ZONULAR PULVERULENT - 3 GJA3 - ARG76HIS 93 115 LEU HIS CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY SERPINA6 - LEU93HIS 367 389 ASP ASN CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY SERPINA6 - ASP367ASN 160 160 LEU HIS COUMARIN - POOR METABOLISM OF NICOTINE - POOR METABOLISM OF - INCLUDED;; CYP2A6 - V1;; CYPA6*2 CYP2A6 - LEU160HIS 224 224 SER PRO TEGAFUR - POOR METABOLISM OF CYP2A6*11 CYP2A6 - SER224PRO 148 148 PRO HIS CRANIOSYNOSTOSIS - TYPE 2 MSX2 - PRO148HIS 172 172 ARG HIS PARIETAL FORAMINA 1 MSX2 - ARG172HIS 116 116 ARG CYS CATARACT - ZONULAR CENTRAL NUCLEAR CATARACT - AUTOSOMAL DOMINANT NUCLEAR - WITH IRIS COLOBOMA - INCLUDED CRYAA - ARG116CYS 49 49 ARG CYS CATARACT - AUTOSOMAL DOMINANT NUCLEAR CRYAA - ARG49CYS 116 116 ARG HIS CATARACT - AUTOSOMAL DOMINANT - MULTIPLE TYPES - WITH MICROCORNEA CRYAA - ARG116HIS 120 120 ARG GLY ALPHA-B CRYSTALLINOPATHY WITH CATARACT CRYAB - ARG120GLY 165 165 GLY ARG CATARACT - CONGENITAL NUCLEAR - AUTOSOMAL RECESSIVE 2 CRYBB3 - GLY165ARG 94 94 PHE SER CATARACT - LAMELLAR 2 CRYBA4 - PHE94SER 69 69 LEU PRO MICROPHTHALMIA - ISOLATED - WITH CATARACT 4 CRYBA4 - LEU69PRO 5 5 THR PRO CATARACT - COPPOCK-LIKE CRYGC - THR5PRO 168 168 ARG TRP CATARACT - CONGENITAL LAMELLAR CRYGC - ARG168TRP 14 15 ARG CYS CATARACT - PUNCTATE - PROGRESSIVE JUVENILE-ONSET CRYGD - ARG14CYS 58 59 ARG HIS CATARACT - CRYSTALLINE ACULEIFORM CRYGD - ARG58HIS 36 37 ARG SER CATARACT - CRYSTALLINE - JUVENILE-ONSET CRYGD - ARG36SER 23 24 PRO THR CATARACT - CONGENITAL LAMELLAR CATARACT - CONGENITAL - CERULEAN TYPE - 3 - INCLUDED CRYGD - PRO23THR 23 24 PRO SER CATARACT - NONNUCLEAR POLYMORPHIC CONGENITAL - AUTOSOMAL DOMINANT CRYGD - PRO23SER 18 18 GLY VAL CATARACT - PROGRESSIVE POLYMORPHIC CORTICAL CRYGS - GLY18VAL 314 314 LYS THR DEAFNESS - AUTOSOMAL DOMINANT NONSYNDROMIC CRYM - LYS314THR 316 316 SER PHE RETINITIS PIGMENTOSA 49 CNGA1 - SER316PHE 24 24 ARG CYS MELANOMA - CUTANEOUS MALIGNANT - 3 CDK4 - ARG24CYS 24 24 ARG HIS MELANOMA - CUTANEOUS MALIGNANT - 3 CDK4 - ARG24HIS 9 9 MET ARG OSTEOGENESIS IMPERFECTA - TYPE IX PPIB - MET9ARG 47 47 GLU LYS HEPATITIS B VIRUS - SUSCEPTIBILITY TO IL10RB - GLU47LYS 17 17 THR ALA HASHIMOTO THYROIDITIS - SUSCEPTIBILITY TO THYROID-ASSOCIATED ORBITOPATHY - SUSCEPTIBILITY TO - INCLUDED;; SYSTEMIC LUPUS ERYTHEMATOSUS - SUSCEPTIBILITY TO - INCLUDED;; DIABETES MELLITUS - INSULIN-DEPENDENT - SUSCEPTIBILITY TO - INCLUDED;; CELIAC DISEASE - SUSCEPTIBILITY TO - 3; INCLUDED CTLA4 - 49A-G - THR17ALA 449 449 GLU LYS WHITE SPONGE NEVUS KRT4 - GLU449LYS 42 42 GLY SER THROMBOCYTOPENIA - AUTOSOMAL DOMINANT - 4 CYCS - GLY42SER 492 489 VAL GLU ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS POR - VAL492GLU 287 284 ALA PRO ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS POR - ALA287PRO 569 566 CYS TYR DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY POR - CYS569TYR 608 605 VAL PHE DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY POR - VAL608PHE 457 454 ARG HIS ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY - INCLUDED POR - ARG457HIS 178 178 TYR ASP DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY POR - TYR178ASP 566 566 CYS TYR DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY POR - CYS566TYR 284 284 ALA PRO DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY POR - ALA284PRO 578 575 TYR CYS ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS POR - TYR578CYS 539 536 GLY ARG ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY - INCLUDED POR - GLY539ARG 433 433 ARG TRP MEPHENYTOIN - POOR METABOLISM OF CYP2C19 - ARG433TRP 1 1 MET VAL MEPHENYTOIN - POOR METABOLISM OF CYP2C19 - MET1VAL (dbSNP rs28399504) 34 34 PRO SER DEBRISOQUINE - POOR METABOLISM OF CYP2D6 - PRO34SER 486 486 SER THR DEBRISOQUINE - ULTRARAPID METABOLISM OF CYP2D6 - ARG296CYS AND SER486THR 296 296 ARG CYS DEBRISOQUINE - ULTRARAPID METABOLISM OF CYP2D6 - ARG296CYS AND SER486THR 386 386 VAL ALA CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY CYP11B2 - ARG181TRP AND VAL386ALA 181 181 ARG TRP CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY CYP11B2 - ARG181TRP AND VAL386ALA 386 386 VAL ALA CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY CYP11B2 - VAL386ALA AND GLU198ASP 198 198 GLU ASP CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY CYP11B2 - VAL386ALA AND GLU198ASP 461 461 LEU PRO CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY CYP11B2 - LEU461PRO 185 185 THR ILE CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY CYP11B2 - THR185ILE 498 498 THR ALA CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY CYP11B2 - THR498ALA 19 20 ARG HIS CYTOCHROME c OXIDASE DEFICIENCY COX6B1 - ARG19HIS 133 133 GLY ARG PORPHYRIA - ACUTE HEPATIC ALAD - GLY133ARG 275 275 VAL MET PORPHYRIA - ACUTE HEPATIC ALAD - VAL275MET 59 59 LYS ASN AMINOLEVULINATE DEHYDRATASE - ALAD*1/ALAD*2 POLYMORPHISM ALAD - LYS59ASN 240 240 ARG TRP PORPHYRIA - ACUTE HEPATIC ALAD - ARG240TRP 274 274 ALA THR PORPHYRIA - ACUTE HEPATIC ALAD - ALA274THR 12 12 PHE LEU PORPHYRIA - ACUTE HEPATIC - DIGENIC ALAD - PHE12LEU 17 17 PRO THR DEAFNESS - AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 39 - WITH DENTINOGENESIS IMPERFECTA 1 DSPP - PRO17THR 18 18 VAL PHE DEAFNESS - AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 39 - WITH DENTINOGENESIS IMPERFECTA 1 DENTINOGENESIS IMPERFECTA - SHIELDS TYPE II - INCLUDED;; DENTINOGENESIS IMPERFECTA - SHIELDS TYPE III - INCLUDED DSPP - VAL18PHE 6 6 ASP TYR DENTIN DYSPLASIA - TYPE II DSPP - ASP6TYR 68 68 ARG TRP DENTINOGENESIS IMPERFECTA - SHIELDS TYPE II DSPP - ARG68TRP 15 15 ALA VAL DENTINOGENESIS IMPERFECTA - SHIELDS TYPE II DSPP - ALA15VAL 244 244 GLN ARG SYSTEMIC LUPUS ERYTHEMATOSUS - SUSCEPTIBILITY TO DNASE1 - GLN244ARG 299 299 SER ARG ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA - FAMILIAL - 8 DSP - SER299ARG 287 287 ASN LYS SKIN FRAGILITY-WOOLLY HAIR SYNDROME DSP - ASN287LYS 2366 2366 ARG CYS SKIN FRAGILITY-WOOLLY HAIR SYNDROME DSP - ARG2366CYS 30 30 VAL MET ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA - FAMILIAL - 8 DSP - VAL30MET 2834 2834 ARG HIS ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA - FAMILIAL - 8 DSP - ARG2834HIS 337 337 ALA PRO MYOPATHY - DESMIN-RELATED DES - ALA337PRO 360 360 ALA PRO MYOPATHY - DESMIN-RELATED DES - ALA360PRO 393 393 ASN ILE MYOPATHY - DESMIN-RELATED DES - ASN393ILE 451 451 ILE MET CARDIOMYOPATHY - DILATED - 1I DES - ILE451MET 345 345 LEU PRO MYOPATHY - DESMIN-RELATED DES - LEU345PRO 406 406 ARG TRP MYOPATHY - DESMIN-RELATED DES - ARG406TRP 385 385 LEU PRO MYOPATHY - DESMIN-RELATED DES - LEU385PRO 389 389 GLN PRO MYOPATHY - DESMIN-RELATED DES - GLN389PRO 442 442 THR ILE MYOPATHY - DESMIN-RELATED DES - THR442ILE 350 350 ARG PRO SCAPULOPERONEAL SYNDROME - NEUROGENIC - KAESER TYPE DES - ARG350PRO 48 49 ARG HIS ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA - FAMILIAL - 10 DSG2 - ARG48HIS 45 46 ARG GLN ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA - FAMILIAL - 10 DSG2 - ARG45GLN 506 507 CYS TYR ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA - FAMILIAL - 10 DSG2 - CYS506TYR 811 812 GLY CYS ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA - FAMILIAL - 10 DSG2 - GLY811CYS 266 266 ASN SER ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA - FAMILIAL - 10 DSG2 - ASN266SER 331 331 GLU LYS ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA - FAMILIAL - 10 DSG2 - GLU331LYS 55 56 VAL MET ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA - FAMILIAL - 10 CARDIOMYOPATHY - DILATED - 1BB - SUSCEPTIBILITY TO - INCLUDED DSG2 - VAL55MET 187 187 PRO SER BENZENE TOXICITY - SUSCEPTIBILITY TO LEUKEMIA - POST-CHEMOTHERAPY - SUSCEPTIBILITY TO - INCLUDED;; BREAST CANCER - POST-CHEMOTHERAPY POOR SURVIVAL IN - INCLUDED NQO1 - PRO187SER 346 346 ARG TRP MILLER SYNDROME DHODH - ARG346TRP 135 135 ARG CYS MILLER SYNDROME DHODH - ARG135CYS 19 19 GLY GLU MILLER SYNDROME DHODH - GLY19GLU 152 152 GLY ARG MILLER SYNDROME DHODH - GLY152ARG 202 202 GLY ALA MILLER SYNDROME DHODH - GLY202ALA 202 202 GLY ASP MILLER SYNDROME DHODH - GLY202ASP 244 244 ARG TRP MILLER SYNDROME DHODH - ARG244TRP 199 199 ARG CYS MILLER SYNDROME DHODH - ARG199CYS 82 82 CYS ARG HYPERPHENYLALANINEMIA - BH4-DEFICIENT - D PCBD1 - CYS82ARG 78 78 THR ILE HYPERPHENYLALANINEMIA - BH4-DEFICIENT - D PCBD1 - THR78ILE 461 461 LEU VAL XERODERMA PIGMENTOSUM - COMPLEMENTATION GROUP D TRICHOTHIODYSTROPHY - INCLUDED ERCC2 - LEU461VAL 725 725 ALA PRO TRICHOTHIODYSTROPHY ERCC2 - ALA725PRO 541 541 SER ARG XERODERMA PIGMENTOSUM - COMPLEMENTATION GROUP D ERCC2 - SER541ARG 112 112 ARG HIS TRICHOTHIODYSTROPHY XERODERMA PIGMENTOSUM - COMPLEMENTATION GROUP D - INCLUDED ERCC2 - ARG112HIS 658 658 ARG CYS TRICHOTHIODYSTROPHY ERCC2 - ARG658CYS 713 713 GLY ARG TRICHOTHIODYSTROPHY ERCC2 - GLY713ARG 681 681 ASP ASN CEREBROOCULOFACIOSKELETAL SYNDROME 2 ERCC2 - ASP681ASN 616 616 ARG TRP CEREBROOCULOFACIOSKELETAL SYNDROME XERODERMA PIGMENTOSUM - COMPLEMENTATION GROUP D - INCLUDED ERCC2 - ARG616TRP 485 485 LEU PRO XERODERMA PIGMENTOSUM - COMPLEMENTATION GROUP D ERCC2 - LEU485PRO 722 722 ARG TRP TRICHOTHIODYSTROPHY ERCC2 - ARG722TRP 683 683 ARG TRP XERODERMA PIGMENTOSUM - COMPLEMENTATION GROUP D ERCC2 - ARG683TRP 231 231 PHE LEU CEREBROOCULOFACIOSKELETAL SYNDROME 4 ERCC1 - PHE231LEU 566 566 GLU LYS DNA LIGASE I DEFICIENCY LIG1 - GLU566LYS 771 771 ARG TRP DNA LIGASE I DEFICIENCY LIG1 - ARG771TRP 533 533 ASP GLY DNA TOPOISOMERASE I - CAMPTOTHECIN-RESISTANT TOP1 - ASP533GLY AND ASP583GLY 583 583 ASP GLY DNA TOPOISOMERASE I - CAMPTOTHECIN-RESISTANT TOP1 - ASP533GLY AND ASP583GLY 418 418 GLU LYS DNA TOPOISOMERASE I - CAMPTOTHECIN-RESISTANT TOP1 - GLU418LYS 486 487 ARG LYS DNA TOPOISOMERASE II - RESISTANCE TO INHIBITION OF - BY AMSACRINE TOP2 - ARG486LYS 154 154 VAL ILE MYOCLONUS-DYSTONIA SYNDROME DRD2 - VAL154ILE 9 9 SER GLY SCHIZOPHRENIA - SUSCEPTIBILITY TO ESSENTIAL TREMOR - SUSCEPTIBILITY TO - INCLUDED DRD3 - SER9GLY 194 194 VAL GLY DOPAMINE RECEPTOR D4 POLYMORPHISM DRD4 - VAL194GLY 368 368 LEU GLN PARKINSONISM-DYSTONIA - INFANTILE SLC6A3 - LEU368GLN 395 395 PRO LEU PARKINSONISM-DYSTONIA - INFANTILE SLC6A3 - PRO395LEU 124 124 HIS LEU CHLORIDE DIARRHEA - CONGENITAL SLC26A3 - HIS124LEU 268 268 ILE ASN NEUROPATHY - CONGENITAL HYPOMYELINATING - AUTOSOMAL RECESSIVE EGR2 - ILE268ASN 409 409 ARG TRP CHARCOT-MARIE-TOOTH DISEASE - TYPE 1D EGR2 - ARG409TRP 382 382 SER ARG NEUROPATHY - CONGENITAL HYPOMYELINATING - AUTOSOMAL DOMINANT EGR2 - SER382ARG AND ASP383TYR 383 383 ASP TYR NEUROPATHY - CONGENITAL HYPOMYELINATING - AUTOSOMAL DOMINANT EGR2 - SER382ARG AND ASP383TYR 359 359 ARG TRP DEJERINE-SOTTAS NEUROPATHY - AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE - TYPE 1D - INCLUDED EGR2 - ARG359TRP 412 412 GLU LYS DEJERINE-SOTTAS NEUROPATHY EGR2 - GLU412LYS 358 358 CYS TYR CALCIFICATION OF JOINTS AND ARTERIES NT5E - CYS358TYR 191 220 ARG GLN CYCLIC HEMATOPOIESIS ELANE - ARG191GLN 177 206 LEU PHE CYCLIC HEMATOPOIESIS ELANE - LEU177PHE 32 61 ALA VAL CYCLIC HEMATOPOIESIS ELANE - ALA32VAL 110 139 PRO LEU NEUTROPENIA - SEVERE CONGENITAL - AUTOSOMAL DOMINANT 1 ELANE - PRO110LEU 72 101 VAL MET NEUTROPENIA - SEVERE CONGENITAL - AUTOSOMAL DOMINANT 1 ELANE - VAL72MET 97 126 SER LEU NEUTROPENIA - SEVERE CONGENITAL - AUTOSOMAL DOMINANT 1 ELANE - SER97LEU 42 71 CYS ARG NEUTROPENIA - SEVERE CONGENITAL - AUTOSOMAL DOMINANT 1 ELANE - CYS42ARG 69 98 VAL LEU NEUTROPENIA - SEVERE CONGENITAL - AUTOSOMAL DOMINANT 1 ELANE - VAL69LEU AND VAL72LEU 72 101 VAL LEU NEUTROPENIA - SEVERE CONGENITAL - AUTOSOMAL DOMINANT 1 ELANE - VAL69LEU AND VAL72LEU 185 214 GLY ARG NEUTROPENIA - SEVERE CONGENITAL - AUTOSOMAL DOMINANT 1 ELANE - GLY185ARG 610 610 ARG GLN SUPRAVALVULAR AORTIC STENOSIS ELN - ARG610GLN AND 24-BP DUP - NT1034 164 164 ARG GLN GLUTARIC ACIDURIA IIB ETFB - ARG164GLN 128 128 ASP ASN GLUTARIC ACIDURIA IIB ETFB - ASP128ASN 1 1 MET ARG ELLIPTOCYTOSIS 1 PROTEIN 4.1 MADRID EPB41 - MET1ARG 1 1 MET THR ELLIPTOCYTOSIS 1 PROTEIN 4.1 LILLE EPB41 - MET1THR 1 1 MET THR HEREDITARY HEMORRHAGIC TELANGIECTASIA ENG - 2T-C - MET1THR 413 413 GLY VAL HEREDITARY HEMORRHAGIC TELANGIECTASIA ENG - GLY413VAL 468 468 HIS TYR IgA NEPHROPATHY - SUSCEPTIBILITY TO SELE - HIS468TYR 289 289 GLU ALA MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) TYMP - GLU289ALA 145 145 GLY ARG MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) TYMP - GLY145ARG 222 222 LYS SER MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) TYMP - LYS222SER 153 153 GLY SER MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) TYMP - GLY153SER 44 44 ARG GLN MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) TYMP - ARG44GLN 208 208 VAL MET MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) TYMP - VAL208MET 311 311 GLY ARG MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) TYMP - GLY311ARG 202 202 ARG THR MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) TYMP - ARG202THR 285 285 LEU PRO MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) TYMP - LEU285PRO 198 198 LYS ASN HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 7 EDN1 - LYS198ASN 159 159 CYS PHE WAARDENBURG SYNDROME TYPE 4B EDN3 - CYS159PHE 17 17 ALA THR HIRSCHSPRUNG DISEASE - SUSCEPTIBILITY TO - 4 EDN3 - ALA17THR 224 224 ALA THR HIRSCHSPRUNG DISEASE - SUSCEPTIBILITY TO - 4 EDN3 - ALA224THR 112 112 HIS ARG WAARDENBURG SYNDROME TYPE 4B EDN3 - HIS112ARG 93 93 ARG GLY WAARDENBURG SYNDROME TYPE 4B EDN3 - ARG93GLY 276 276 TRP CYS HIRSCHSPRUNG DISEASE - SUSCEPTIBILITY TO - 2 WAARDENBURG SYNDROME - TYPE 4A - INCLUDED EDNRB - TRP276CYS 183 183 ALA GLY WAARDENBURG SYNDROME - TYPE 4A EDNRB - ALA183GLY 57 57 GLY SER HIRSCHSPRUNG DISEASE - SUSCEPTIBILITY TO - 2 EDNRB - GLY57SER 305 305 SER ASN HIRSCHSPRUNG DISEASE - SUSCEPTIBILITY TO - 2 EDNRB - SER305ASN 275 274 TRP ARG HYPOPARATHYROIDISM - SENSORINEURAL DEAFNESS - AND RENAL DISEASE GATA3 - TRP275ARG 353 352 ARG SER HYPOPARATHYROIDISM - SENSORINEURAL DEAFNESS - AND RENAL DISEASE GATA3 - ARG353SER 138 138 ARG SER SPINOCEREBELLAR ATAXIA 23 PDYN - ARG138SER 215 215 ARG CYS SPINOCEREBELLAR ATAXIA 23 PDYN - ARG215CYS 211 211 LEU SER SPINOCEREBELLAR ATAXIA 23 PDYN - LEU211SER 212 212 ARG TRP SPINOCEREBELLAR ATAXIA 23 PDYN - ARG212TRP 156 156 GLY ASP GLYCOGEN STORAGE DISEASE XIII ENO3 - GLY156ASP 374 374 GLY GLU GLYCOGEN STORAGE DISEASE XIII ENO3 - GLY374GLU 286 286 ARG HIS EOSINOPHIL PEROXIDASE DEFICIENCY EPX - ARG286HIS 1070 1070 PRO LEU HYPOMAGNESEMIA 4 - RENAL EGF - PRO1070LEU 858 858 LEU ARG NONSMALL CELL LUNG CANCER - RESPONSE TO TYROSINE KINASE INHIBITOR IN - SOMATIC ADENOCARCINOMA OF LUNG - RESPONSE TO TYROSINE KINASE INHIBITOR IN - SOMATIC - INCLUDED EGFR - LEU858ARG 719 719 GLY CYS NONSMALL CELL LUNG CANCER - RESPONSE TO TYROSINE KINASE INHIBITOR IN - SOMATIC EGFR - GLY719CYS 719 719 GLY SER NONSMALL CELL LUNG CANCER - RESPONSE TO TYROSINE KINASE INHIBITOR IN - SOMATIC EGFR - GLY719SER 790 790 THR MET NONSMALL CELL LUNG CANCER - RESISTANCE TO TYROSINE KINASE INHIBITOR IN EGFR - THR790MET 113 113 TYR HIS LYMPHOPROLIFERATIVE DISORDERS - SUSCEPTIBILITY TO PREECLAMPSIA - SUSCEPTIBILITY TO - INCLUDED;; EMPHYSEMA - SUSCEPTIBILITY TO - INCLUDED;; PULMONARY DISEASE - CHRONIC OBSTRUCTIVE - SUSCEPTIBILITY TO - INCLUDED EPHX1 - TYR113HIS 139 139 HIS ARG EPOXIDE HYDROLASE POLYMORPHISM EPHX1 - HIS139ARG 287 287 ARG GLN HYPERCHOLESTEROLEMIA - FAMILIAL - DUE TO LDLR DEFECT - MODIFIER OF EPHX2 - ARG287GLN 487 487 ASN SER ERYTHROCYTOSIS - FAMILIAL - 1 ERYTHROLEUKEMIA - INCLUDED EPOR - ASN487SER 447 447 CYS ALA ESTROGEN RECEPTOR MUTANT - TEMPERATURE-SENSITIVE ESR1 - CYS447ALA 364 364 VAL GLU ESTROGEN RESISTANCE ESR1 - VAL364GLU 99 99 PHE SER XERODERMA PIGMENTOSUM B/COCKAYNE SYNDROME ERCC3 - PHE99SER 119 119 THR PRO TRICHOTHIODYSTROPHY ERCC3 - THR119PRO 788 788 ARG TRP XERODERMA PIGMENTOSUM - TYPE F ERCC4 - ARG788TRP 153 153 ARG PRO XFE PROGEROID SYNDROME ERCC4 - ARG153PRO 792 792 ALA VAL XERODERMA PIGMENTOSUM - COMPLEMENTATION GROUP G ERCC5 - ALA792VAL 72 72 PRO HIS XERODERMA PIGMENTOSUM GROUP G/COCKAYNE SYNDROME ERCC5 - PRO72HIS 858 858 LEU PRO XERODERMA PIGMENTOSUM - COMPLEMENTATION GROUP G ERCC5 - LEU858PRO 874 874 ALA THR XERODERMA PIGMENTOSUM - COMPLEMENTATION GROUP G ERCC5 - ALA874THR 214 214 CYS ARG COMPLEMENT FACTOR D DEFICIENCY CFD - VAL213GLY AND CYS214ARG 213 213 VAL GLY COMPLEMENT FACTOR D DEFICIENCY CFD - VAL213GLY AND CYS214ARG 1215 1215 ARG GLY HEMOLYTIC UREMIC SYNDROME - ATYPICAL - SUSCEPTIBILITY TO - 1 CFH - ARG1215GLY 536 536 CYS ARG MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS WITH COMPLEMENT FACTOR H DEFICIENCY CFH - CYS536ARG 959 959 CYS TYR MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS WITH COMPLEMENT FACTOR H DEFICIENCY CFH - CYS959TYR 1191 1191 SER LEU HEMOLYTIC UREMIC SYNDROME - ATYPICAL - SUSCEPTIBILITY TO - 1 CFH - SER1191LEU - (dbSNP rs460897) 1189 1189 LEU ARG HEMOLYTIC UREMIC SYNDROME - ATYPICAL - SUSCEPTIBILITY TO - 1 CFH - LEU1189ARG - (dbSNP rs28929497) 402 402 TYR HIS MACULAR DEGENERATION - AGE-RELATED - 4 - SUSCEPTIBILITY TO BASAL LAMINAR DRUSEN - INCLUDED CFH - TYR402HIS - (dbSNP rs1061170) 62 62 ILE VAL MACULAR DEGENERATION - AGE-RELATED - 4 - SUSCEPTIBILITY TO CFH - ILE62VAL - (dbSNP rs800292) 431 431 CYS SER MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS WITH COMPLEMENT FACTOR H DEFICIENCY CFH - CYS431SER 127 127 ARG LEU MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS WITH COMPLEMENT FACTOR H DEFICIENCY CFH - ARG127LEU 1210 1210 ARG CYS GLOMERULONEPHRITIS WITH ISOLATED C3 DEPOSITS AND FACTOR H DEFICIENCY HEMOLYTIC UREMIC SYNDROME - ATYPICAL - SUSCEPTIBILITY TO - 1 - INCLUDED CFH - ARG1210CYS 1078 1078 ARG SER BASAL LAMINAR DRUSEN CFH - ARG1078SER 681 682 ARG HIS FACTOR XIII - A SUBUNIT - DEFICIENCY OF F13A1 - ARG681HIS 60 61 ASN LYS FACTOR XIII - A SUBUNIT - DEFICIENCY OF F13A1 - ASN60LYS 501 502 GLY ARG FACTOR XIII - A SUBUNIT - DEFICIENCY OF F13A1 - GLY501ARG 562 563 GLY ARG FACTOR XIII - A SUBUNIT - DEFICIENCY OF F13A1 - GLY562ARG 414 415 VAL PHE FACTOR XIII - A SUBUNIT - DEFICIENCY OF F13A1 - VAL414PHE 260 261 ARG HIS FACTOR XIII - A SUBUNIT - DEFICIENCY OF F13A1 - ARG260HIS 34 35 VAL LEU MYOCARDIAL INFARCTION - PROTECTION AGAINST VENOUS THROMBOSIS - PROTECTION AGAINST - INCLUDED F13A1 - VAL34LEU 326 327 ARG GLN FACTOR XIII - A SUBUNIT - DEFICIENCY OF F13A1 - ARG326GLN 316 317 VAL PHE FACTOR XIII - A SUBUNIT - DEFICIENCY OF F13A1 - VAL316PHE 283 284 TYR CYS FACTOR XIII - A SUBUNIT - DEFICIENCY OF F13A1 - TYR283CYS 703 704 ARG TRP FACTOR XIII - A SUBUNIT - DEFICIENCY OF F13A1 - ARG703TRP 242 243 MET THR FACTOR XIII - A SUBUNIT - DEFICIENCY OF F13A1 - MET242THR 430 364 CYS PHE FACTOR XIII - B SUBUNIT - DEFICIENCY OF F13B - CYS430PHE 95 29 HIS ARG VENOUS THROMBOSIS - SUSCEPTIBILITY TO F13B - HIS95ARG 225 241 THR PRO AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME - TYPE IA TNFRSF6 - THR225PRO 105 121 ARG TRP AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME - TYPE IA - AUTOSOMAL RECESSIVE TNFRSF6 - ARG105TRP 216 232 TYR CYS AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME - TYPE IA - AUTOSOMAL RECESSIVE TNFRSF6 - TYR216CYS 244 260 ASP VAL AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME - TYPE IA TNFRSF6 - ASP244VAL 234 250 ARG PRO AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME - TYPE IA TNFRSF6 - ARG234PRO 254 270 THR ILE AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME - TYPE IA TNFRSF6 - THR254ILE 239 255 ASN ASP SQUAMOUS CELL CARCINOMA - BURN SCAR-RELATED - SOMATIC TNFRSF6 - ASN239ASP 102 118 ASN SER SQUAMOUS CELL CARCINOMA - BURN SCAR-RELATED - SOMATIC TNFRSF6 - ASN102SER 162 178 CYS ARG SQUAMOUS CELL CARCINOMA - BURN SCAR-RELATED - SOMATIC TNFRSF6 - CYS162ARG 231 247 GLY ALA AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME - TYPE IA TNFRSF6 - GLY231ALA 244 260 ASP TYR AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME - TYPE IA TNFRSF6 - ASP244TYR 54 55 ALA THR FATTY ACID-BINDING PROTEIN - INTESTINAL - POLYMORPHISM OF FABP2 - ALA54THR 96 96 ALA THR NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 FTL - ALA96THR 1137 1137 ARG PRO MARFAN SYNDROME - SEVERE CLASSIC FBN1 - ARG1137PRO 2307 2307 CYS SER MARFAN SYNDROME - MILD VARIABLE FBN1 - CYS2307SER 1249 1249 CYS SER MARFAN SYNDROME FBN1 - CYS1249SER 1663 1663 CYS ARG MARFAN SYNDROME FBN1 - CYS1663ARG 2221 2221 CYS SER MARFAN SYNDROME FBN1 - CYS2221SER 2144 2144 ASN SER MARFAN SYNDROME FBN1 - ASN2144SER 548 548 ASN ILE MARFAN SYNDROME FBN1 - ASN548ILE 723 723 ASP ALA MARFAN SYNDROME FBN1 - ASP723ALA 2447 2447 GLU LYS ECTOPIA LENTIS - ISOLATED - 1 FBN1 - GLU2447LYS 1074 1074 CYS ARG MARFAN SYNDROME - NEONATAL FBN1 - CYS1074ARG 122 122 ARG CYS MARFAN SYNDROME - ATYPICAL FBN1 - ARG122CYS 1127 1127 GLY SER MARFAN SYNDROME - MILD FBN1 - GLY1127SER 1223 1223 CYS TYR MARFAN SYNDROME SHPRINTZEN-GOLDBERG SYNDROME - INCLUDED FBN1 - CYS1223TYR 2726 2726 ARG TRP RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE FBN1 - ARG2726TRP 1117 1117 CYS TYR MARFAN SYNDROME FBN1 - CYS1117TYR 1242 1242 CYS TYR MARFAN SYNDROME FBN1 - CYS1242TYR 1043 1043 LYS ARG MARFAN SYNDROME - NEONATAL FBN1 - LYS1043ARG 1131 1131 ASN TYR MARFAN SYNDROME - NEONATAL FBN1 - ASN1131TYR 2118 2118 ILE ILE MARFAN SYNDROME FBN1 - 6354C-T - EX51DEL - ILE2118ILE 1265 1265 CYS ARG MARFAN SYNDROME - CLASSIC FBN1 - CYS1265ARG 1170 1170 ARG HIS MARFAN SYNDROME - SUBDIAGNOSTIC VARIANT OF FBN1 - ARG1170HIS 985 985 GLY GLU MARFAN SYNDROME - ATYPICAL FBN1 - GLY985GLU 1013 1013 GLY ARG MARFAN SYNDROME FBN1 - GLY1013ARG 1073 1073 GLU LYS MARFAN SYNDROME - NEONATAL FBN1 - GLU1073LYS 754 754 TYR CYS MARFAN SYNDROME FBN1 - TYR754CYS 240 240 ARG CYS MARFAN SYNDROME ECTOPIA LENTIS - ISOLATED - 1 - INCLUDED FBN1 - ARG240CYS 1032 1032 CYS TYR MARFAN SYNDROME - NEONATAL FBN1 - CYS1032TYR 1129 1129 CYS TYR MARFAN SYNDROME FBN1 - CYS1129TYR 1221 1221 CYS TYR SHPRINTZEN-GOLDBERG SYNDROME FBN1 - CYS1221TYR 1086 1086 CYS TYR MARFAN SYNDROME - NEONATAL FBN1 - CYS1086TYR 485 485 ARG CYS MARFAN SYNDROME - AUTOSOMAL RECESSIVE FBN1 - ARG485CYS 1570 1570 TRP CYS STIFF SKIN SYNDROME FBN1 - TRP1570CYS - 4710G-T 1570 1570 TRP CYS STIFF SKIN SYNDROME FBN1 - TRP1570CYS - 4710G-C 1564 1564 CYS SER STIFF SKIN SYNDROME FBN1 - CYS1564SER 1577 1577 CYS GLY STIFF SKIN SYNDROME FBN1 - CYS1577GLY 1594 1594 GLY ASN STIFF SKIN SYNDROME FBN1 - GLY1594ASN 7 26 ASP ASN FIBRINOGEN LILLE 1 FGA - ASP7ASN 12 31 GLY VAL FIBRINOGEN ROUEN 1 FGA - GLY12VAL 16 35 ARG CYS FIBRINOGEN BERGAMO 1 FIBRINOGEN HERSHEY 2;; FIBRINOGEN HOMBURG 2;; FIBRINOGEN HOMBURG 3;; FIBRINOGEN KAWAGUCHI 1;; FIBRINOGEN LEOGAN;; FIBRINOGEN METZ 1;; FIBRINOGEN NEW ALBANY;; FIBRINOGEN OSAKA 1;; FIBRINOGEN SCHWARZACH 1;; FIBRINOGEN STONY BROOK 1;; FIBRINOGEN ZURICH 1;; FIBRINOGEN TORINO 1;; FIBRINOGEN LEDYARD;; FIBRINOGEN HERSHEY 3;; FIBRINOGEN MILANO XII - DIGENIC - INCLUDED FGA - ARG16CYS 16 35 ARG HIS FIBRINOGEN AMIENS 1 FIBRINOGEN AMIENS 2;; FIBRINOGEN BERGAMO 3;; FIBRINOGEN BERN 2;; FIBRINOGEN BICETRE 1;; FIBRINOGEN BIRMINGHAM 1;; FIBRINOGEN CHAPEL HILL 2;; FIBRINOGEN CLERMONT-FERRAND 1;; FIBRINOGEN GIESSEN 1;; FIBRINOGEN LEITCHFIELD;; FIBRINOGEN LONG BEACH 1;; FIBRINOGEN LOUISVILLE 1;; FIBRINOGEN MANCHESTER 1;; FIBRINOGEN PARIS 6;; FIBRINOGEN PETOSKEY 1;; FIBRINOGEN SEATTLE 2;; FIBRINOGEN SHEFFIELD 2;; FIBRINOGEN SYDNEY 1;; FIBRINOGEN SYDNEY 2;; FIBRINOGEN WHITE MARSH 1 FGA - ARG16HIS 19 38 ARG ASN FIBRINOGEN MUNICH 1 FGA - ARG19ASN 19 38 ARG SER FIBRINOGEN DETROIT 1 FGA - ARG19SER 19 38 ARG GLY FIBRINOGEN AARHUS 1 FGA - ARG19GLY 18 37 PRO LEU FIBRINOGEN KYOTO 2 FGA - PRO18LEU 434 453 SER ASN FIBRINOGEN CARACAS-2 FGA - SER434ASN 141 160 ARG SER FIBRINOGEN LIMA FGA - ARG141SER 554 573 ARG LEU AMYLOIDOSIS - FAMILIAL VISCERAL FGA - ARG554LEU 526 545 GLU VAL AMYLOIDOSIS - FAMILIAL VISCERAL FGA - GLU526VAL 554 573 ARG CYS FIBRINOGEN DUSART FIBRINOGEN PARIS 5 FGA - ARG554CYS 20 39 VAL ASP FIBRINOGEN CANTERBURY FGA - VAL20ASP 312 331 THR ALA VENOUS THROMBOEMBOLISM - SUSCEPTIBILITY TO FGA - THR312ALA 14 44 ARG CYS FIBRINOGEN CHRISTCHURCH 2 FIBRINOGEN SEATTLE 1;; FIBRINOGEN IJmuiden FGB - ARG14CYS 335 365 ALA THR FIBRINOGEN PONTOISE 2 FGB - ALA335THR 448 478 ARG LYS FIBRINOGEN BALTIMORE 2 FGB - ARG448LYS 15 45 GLY CYS FIBRINOGEN ISE FGB - GLY15CYS 44 74 ARG CYS FIBRINOGEN NIJMEGEN FGB - ARG44CYS 68 98 ALA THR FIBRINOGEN NAPLES FIBRINOGEN MILANO 2;; THROMBOPHILIA - DYSFIBRINOGENEMIC FGB - ALA68THR 353 383 LEU ARG AFIBRINOGENEMIA - CONGENITAL FGB - LEU353ARG 400 430 GLY ASP AFIBRINOGENEMIA - CONGENITAL FGB - GLY400ASP 166 196 ARG CYS FIBRINOGEN LONGMONT FGB - ARG166CYS 172 202 LEU GLN HYPOFIBRINOGENEMIA - CONGENITAL FGB - LEU172GLN 275 301 ARG CYS FIBRINOGEN BALTIMORE 4 FIBRINOGEN MORIOKA 1;; FIBRINOGEN OSAKA 2;; FIBRINOGEN TOCHIGI 1;; FIBRINOGEN TOKYO 2 FGG - ARG275CYS 275 301 ARG HIS FIBRINOGEN BERGAMO 2 FIBRINOGEN ESSEN 1;; FIBRINOGEN HAIFA 1;; FIBRINOGEN PERUGIA 1;; FIBRINOGEN SAGA 1;; FIBRINOGEN OSAKA 3 FGG - ARG275HIS 292 318 GLY VAL FIBRINOGEN BALTIMORE 1 FGG - GLY292VAL 308 334 ASN LYS FIBRINOGEN KYOTO 1 FGG - ASN308LYS 308 334 ASN ILE FIBRINOGEN BALTIMORE 3 FGG - ASN308ILE 310 336 MET THR FIBRINOGEN ASAHI FGG - MET310THR 329 355 GLN ARG FIBRINOGEN NAGOYA 1 FGG - GLN329ARG 330 356 ASP TYR FIBRINOGEN KYOTO 3 FGG - ASP330TYR 330 356 ASP VAL FIBRINOGEN MILANO 1 THROMBOPHILIA - DYSFIBRINOGENEMIC;; FIBRINOGEN ALES FGG - ASP330VAL 375 401 ARG GLY FIBRINOGEN OSAKA 5 FGG - ARG375GLY 364 390 ASP HIS FIBRINOGEN MATSUMOTO 1 FGG - ASP364HIS 318 318 ARG GLY FIBRINOGEN GIESSEN 4 FGG - ARG318GLY 165 191 GLY ARG FIBRINOGEN MILANO XII - DIGENIC FGG - GLY165ARG 309 335 GLY ASP FIBRINOGEN HILLSBOROUGH FGG - GLY309ASP 380 380 GLY ARG ACHONDROPLASIA NEVUS - EPIDERMAL - INCLUDED FGFR3 - GLY380ARG - 1138G-A 380 380 GLY ARG ACHONDROPLASIA FGFR3 - GLY380ARG - 1138G-C 375 375 GLY CYS ACHONDROPLASIA FGFR3 - GLY375CYS 650 650 LYS GLU THANATOPHORIC DYSPLASIA - TYPE II MULTIPLE MYELOMA - SOMATIC - INCLUDED;; SPERMATOCYTIC SEMINOMA - SOMATIC - INCLUDED FGFR3 - LYS650GLU 248 248 ARG CYS THANATOPHORIC DYSPLASIA - TYPE I MULTIPLE MYELOMA - SOMATIC - INCLUDED;; SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS - INCLUDED;; NEVUS - EPIDERMAL - SOMATIC - INCLUDED;; KERATOSIS - SEBORRHEIC - SOMATIC - INCLUDED FGFR3 - ARG248CYS 371 371 SER CYS THANATOPHORIC DYSPLASIA - TYPE I FGFR3 - SER371CYS 540 540 ASN LYS HYPOCHONDROPLASIA FGFR3 - ASN540LYS - 1620C-A 391 391 ALA GLU CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS FGFR3 - ALA391GLU 540 540 ASN LYS HYPOCHONDROPLASIA FGFR3 - ASN540LYS - 1620C-G 249 249 SER CYS THANATOPHORIC DYSPLASIA - TYPE I CERVICAL CANCER - SOMATIC - INCLUDED;; BLADDER CANCER - SOMATIC - INCLUDED;; KERATOSIS - SEBORRHEIC - SOMATIC - INCLUDED FGFR3 - SER249CYS 250 250 PRO ARG MUENKE SYNDROME SAETHRE-CHOTZEN SYNDROME - INCLUDED;; BEARE-STEVENSON SYNDROME-LIKE ANOMALIES - INCLUDED FGFR3 - PRO250ARG 650 650 LYS MET SADDAN DYSPLASIA THANATOPHORIC DYSPLASIA - TYPE I - INCLUDED FGFR3 - LYS650MET 373 373 TYR CYS THANATOPHORIC DYSPLASIA - TYPE I FGFR3 - TYR373CYS 540 540 ASN THR HYPOCHONDROPLASIA FGFR3 - ASN540THR 538 538 ILE VAL HYPOCHONDROPLASIA FGFR3 - ILE538VAL 650 650 LYS ASN HYPOCHONDROPLASIA FGFR3 - LYS650ASN - 1950G-T 650 650 LYS ASN HYPOCHONDROPLASIA FGFR3 - LYS650ASN - 1950G-C 650 650 LYS GLN HYPOCHONDROPLASIA FGFR3 - LYS650GLN 540 540 ASN SER HYPOCHONDROPLASIA FGFR3 - ASN540SER 652 652 LYS GLN HYPOCHONDROPLASIA BLADDER CANCER - SOMATIC - INCLUDED FGFR3 - LYS652GLN 322 322 GLU LYS COLORECTAL CANCER - SOMATIC FGFR3 - GLU322LYS 380 380 GLY ARG ACHONDROPLASIA FGFR3 - GLY380ARG AND LEU377ARG 377 377 LEU ARG ACHONDROPLASIA FGFR3 - GLY380ARG AND LEU377ARG 513 513 ASP ASN LADD SYNDROME FGFR3 - ASP513ASN 621 621 ARG HIS CAMPTODACTYLY - TALL STATURE - AND HEARING LOSS SYNDROME FGFR3 - ARG621HIS 279 279 SER CYS ACHONDROPLASIA HYPOCHONDROPLASIA - INCLUDED FGFR3 - SER279CYS 278 278 TYR CYS HYPOCHONDROPLASIA FGFR3 - TYR278CYS 84 84 SER LEU HYPOCHONDROPLASIA FGFR3 - SER84LEU 370 370 GLY CYS THANATOPHORIC DYSPLASIA - TYPE I NEVUS - EPIDERMAL - INCLUDED FGFR3 - GLY370CYS 485 485 GLN ARG THANATOPHORIC DYSPLASIA - TYPE I FGFR3 - ASN540LYS AND GLN485ARG 540 540 ASN LYS THANATOPHORIC DYSPLASIA - TYPE I FGFR3 - ASN540LYS AND GLN485ARG 388 388 GLY ARG CANCER PROGRESSION AND TUMOR CELL MOTILITY FGFR4 - GLY388ARG 1925 1925 TRP ARG GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 FN1 - TRP1925ARG 1974 1974 LEU ARG GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 FN1 - LEU1974ARG 983 983 TYR CYS GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 FN1 - TYR983CYS 257 257 VAL MET TRIMETHYLAMINURIA FMO3 - VAL257MET 66 66 MET ILE TRIMETHYLAMINURIA FMO3 - MET66ILE 153 153 PRO LEU TRIMETHYLAMINURIA FMO3 - PRO153LEU 492 492 ARG TRP TRIMETHYLAMINURIA FMO3 - ARG492TRP 387 387 ARG LEU TRIMETHYLAMINURIA FMO3 - ARG387LEU 52 52 ALA THR TRIMETHYLAMINURIA FMO3 - ALA52THR 61 61 ASN SER TRIMETHYLAMINURIA FMO3 - ASN61SER 434 434 MET ILE TRIMETHYLAMINURIA FMO3 - MET434ILE 32 32 GLU LYS TRIMETHYLAMINURIA FMO3 - GLU32LYS 158 158 GLU LYS TRIMETHYLAMINURIA - MILD FMO3 - GLU308GLY AND GLU158LYS 308 308 GLU GLY TRIMETHYLAMINURIA - MILD FMO3 - GLU308GLY AND GLU158LYS 252 252 PRO ARG PFEIFFER SYNDROME JACKSON-WEISS SYNDROME - INCLUDED FGFR1 - PRO252ARG 666 666 TRP ARG KALLMANN SYNDROME 2 WITH CLEFT PALATE FGFR1 - TRP666ARG 607 607 VAL MET KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA FGFR1 - VAL607MET 167 167 ALA SER KALLMANN SYNDROME 2 FGFR1 - ALA167SER 372 372 TYR CYS OSTEOGLOPHONIC DYSPLASIA FGFR1 - TYR372CYS 330 330 ASN ILE OSTEOGLOPHONIC DYSPLASIA FGFR1 - ASN330ILE 379 379 CYS ARG OSTEOGLOPHONIC DYSPLASIA FGFR1 - CYS379ARG 300 300 ILE THR TRIGONOCEPHALY FGFR1 - ILE300THR 381 381 CYS ARG OSTEOGLOPHONIC DYSPLASIA FGFR1 - CYS381ARG 237 237 GLY SER HYPOGONADOTROPIC HYPOGONADISM KALLMANN SYNDROME 2 - INCLUDED FGFR1 - GLY237SER 724 724 ASN LYS HYPOGONADOTROPIC HYPOGONADISM FGFR1 - PRO722HIS AND ASN724LYS 722 722 PRO HIS HYPOGONADOTROPIC HYPOGONADISM FGFR1 - PRO722HIS AND ASN724LYS 470 470 ARG LEU HYPOGONADOTROPIC HYPOGONADISM FGFR1 - ARG470LEU 342 342 LEU SER KALLMANN SYNDROME 2 FGFR1 - LEU342SER 48 48 GLY SER KALLMANN SYNDROME 2 FGFR1 - GLY48SER 366 366 PRO LEU KALLMANN SYNDROME 2 FGFR1 - PRO366LEU 722 722 PRO SER KALLMANN SYNDROME 2 FGFR1 - PRO722SER 764 764 GLN HIS HYPOGONADOTROPIC HYPOGONADISM FGFR1 - GLN764HIS 768 768 ASP TYR HYPOGONADOTROPIC HYPOGONADISM FGFR1 - ASP768TYR 250 250 ARG GLN HYPOGONADOTROPIC HYPOGONADISM FGFR1 - ARG250GLN 835 835 ASP VAL LEUKEMIA - ACUTE MYELOID - SOMATIC LEUKEMIA - ACUTE LYMPHOBLASTIC - SOMATIC - INCLUDED FLT3 - ASP835VAL 835 835 ASP HIS LEUKEMIA - ACUTE MYELOID - SOMATIC FLT3 - ASP835HIS 835 835 ASP ASN LEUKEMIA - ACUTE MYELOID - SOMATIC FLT3 - ASP835ASN 835 835 ASP GLU LEUKEMIA - ACUTE MYELOID - SOMATIC FLT3 - ASP835GLU 835 835 ASP TYR LEUKEMIA - ACUTE MYELOID - SOMATIC LEUKEMIA - ACUTE LYMPHOBLASTIC - SOMATIC - INCLUDED FLT3 - ASP835TYR 1126 1126 PRO LEU LYMPHEDEMA - HEREDITARY - IA FLT4 - PRO1126LEU 857 857 GLY ARG LYMPHEDEMA - HEREDITARY - IA FLT4 - GLY857ARG 1041 1041 ARG PRO LYMPHEDEMA - HEREDITARY - IA FLT4 - ARG1041PRO 1044 1044 LEU PRO LYMPHEDEMA - HEREDITARY - IA FLT4 - LEU1044PRO 1114 1114 PRO LEU LYMPHEDEMA - HEREDITARY - IA FLT4 - PRO1114LEU 1035 1035 HIS ARG LYMPHEDEMA - HEREDITARY - I FLT4 - HIS1035ARG 954 954 PRO SER HEMANGIOMA - CAPILLARY INFANTILE - SOMATIC FLT4 - PRO954SER 878 878 VAL MET LYMPHEDEMA - HEREDITARY - IA FLT4 - VAL878MET 1086 1086 ILE THR LYMPHEDEMA - HEREDITARY - IA FLT4 - ILE1086THR 1106 1106 GLU LYS LYMPHEDEMA - HEREDITARY - IA FLT4 - GLU1106LYS 855 855 ALA THR LYMPHEDEMA - HEREDITARY - IA FLT4 - ALA855THR 189 189 ALA VAL OVARIAN DYSGENESIS 1 FSHR - ALA189VAL 160 160 ILE THR OVARIAN DYSGENESIS 1 FSHR - ILE160THR 573 573 ARG CYS OVARIAN DYSGENESIS 1 FSHR - ARG573CYS 307 307 THR ALA OVARIAN RESPONSE TO FSH STIMULATION FSHR - THR307ALA 680 680 ASN SER OVARIAN RESPONSE TO FSH STIMULATION OVARIAN HYPERSTIMULATION SYNDROME - MODIFIER OF SEVERITY OF - INCLUDED FSHR - ASN680SER 418 418 ALA THR OVARIAN DYSGENESIS 1 FSHR - ALA418THR 449 449 THR ILE OVARIAN HYPERSTIMULATION SYNDROME FSHR - THR449ILE 567 567 ASP ASN OVARIAN HYPERSTIMULATION SYNDROME FSHR - ASP567ASN 519 519 PRO THR OVARIAN DYSGENESIS 1 FSHR - PRO519THR 449 449 THR ALA OVARIAN HYPERSTIMULATION SYNDROME FSHR - THR449ALA 545 545 ILE THR OVARIAN HYPERSTIMULATION SYNDROME FSHR - ILE545THR 128 128 SER TYR OVARIAN HYPERSTIMULATION SYNDROME FSHR - SER128TYR 587 587 PRO HIS OVARIAN DYSGENESIS 1 FSHR - PRO587HIS 51 50 CYS GLY FOLLICLE-STIMULATING HORMONE DEFICIENCY - ISOLATED FSHB - CYS51GLY 247 247 GLU LYS FUCOSYLTRANSFERASE-6 DEFICIENCY - PLASMA - INDONESIAN TYPE FUT6 - GLU247LYS 265 308 ALA THR FUMARASE DEFICIENCY FH - ALA265THR 319 362 GLU GLN FUMARASE DEFICIENCY FH - GLU319GLN 64 107 ASN THR MULTIPLE CUTANEOUS AND UTERINE LEIOMYOMATA LEIOMYOMATOSIS AND RENAL CELL CANCER - INCLUDED FH - ASN64THR 190 233 ARG HIS LEIOMYOMATOSIS AND RENAL CELL CANCER MULTIPLE CUTANEOUS AND UTERINE LEIOMYOMATA - INCLUDED FH - ARG190HIS 190 233 ARG LEU LEIOMYOMATOSIS AND RENAL CELL CANCER FH - ARG190LEU 58 101 ARG PRO MULTIPLE CUTANEOUS AND UTERINE LEIOMYOMATA LEIOMYOMATOSIS AND RENAL CELL CANCER - INCLUDED FH - ARG58PRO 517 517 HIS GLN AMYOTROPHIC LATERAL SCLEROSIS 6 - AUTOSOMAL RECESSIVE FUS - HIS517GLN 521 521 ARG GLY AMYOTROPHIC LATERAL SCLEROSIS 6 WITHOUT FRONTOTEMPORAL DEMENTIA FUS - ARG521GLY 518 518 ARG LYS AMYOTROPHIC LATERAL SCLEROSIS 6 WITHOUT FRONTOTEMPORAL DEMENTIA FUS - ARG518LYS 521 521 ARG CYS AMYOTROPHIC LATERAL SCLEROSIS 6 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA FUS - ARG521CYS 521 521 ARG HIS AMYOTROPHIC LATERAL SCLEROSIS 6 WITHOUT FRONTOTEMPORAL DEMENTIA FUS - ARG521HIS 507 507 GLY ASP AMYOTROPHIC LATERAL SCLEROSIS 6 WITHOUT FRONTOTEMPORAL DEMENTIA FUS - GLY507ASP 216 216 ARG CYS AMYOTROPHIC LATERAL SCLEROSIS 6 WITHOUT FRONTOTEMPORAL DEMENTIA FUS - ARG216CYS 524 524 ARG TRP AMYOTROPHIC LATERAL SCLEROSIS 6 WITHOUT FRONTOTEMPORAL DEMENTIA FUS - ARG524TRP 206 206 GLY SER AMYOTROPHIC LATERAL SCLEROSIS 6 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA FUS - GLY206SER 220 220 ARG LYS GABA-TRANSAMINASE DEFICIENCY ABAT - ARG220LYS 322 322 ALA ASP EPILEPSY - JUVENILE MYOCLONIC - SUSCEPTIBILITY TO - 5 GABRA1 - ALA322ASP 177 177 GLU ALA GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS - TYPE 5 - SUSCEPTIBILITY TO GABRD - GLU177ALA 220 220 ARG HIS GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS - TYPE 5 - SUSCEPTIBILITY TO EPILEPSY - IDIOPATHIC GENERALIZED - SUSCEPTIBILITY TO - 10 - INCLUDED; EPILEPSY - JUVENILE MYOCLONIC - SUSCEPTIBILITY TO - 7 - INCLUDED GABRD - ARG220HIS 289 289 LYS MET GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS - TYPE 3 GABRG2 - LYS289MET 43 43 ARG GLN EPILEPSY - CHILDHOOD ABSENCE - SUSCEPTIBILITY TO - 2 FEBRILE SEIZURES - FAMILIAL - 8 - INCLUDED GABRG2 - ARG43GLN 139 139 ARG GLY FEBRILE SEIZURES - FAMILIAL - 8 GABRG2 - ARG139GLY 394 394 LEU ARG VITAMIN K-DEPENDENT CLOTTING FACTORS - COMBINED DEFICIENCY OF - 1 GGCX - LEU394ARG 501 501 TRP SER VITAMIN K-DEPENDENT CLOTTING FACTORS - COMBINED DEFICIENCY OF - 1 GGCX - TRP501SER 485 485 ARG PRO VITAMIN K-DEPENDENT CLOTTING FACTORS - COMBINED DEFICIENCY OF - 1 GGCX - ARG485PRO 299 299 PHE SER PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY GGCX - PHE299SER 558 558 GLY ARG PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY GGCX - GLY558ARG 493 493 TRP SER PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY GGCX - TRP493SER 537 537 GLY TYR PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY GGCX - GLY537TYR 476 476 ARG CYS PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY GGCX - ARG476CYS 476 476 ARG HIS PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY GGCX - ARG476HIS 255 255 VAL MET PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY GGCX - VAL255MET 300 300 SER PHE PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY GGCX - SER300PHE 192 192 ARG HIS INSOMNIA GABRB3 - ARG192HIS 11 11 PRO SER EPILEPSY - CHILDHOOD ABSENCE - SUSCEPTIBILITY TO - 5 GABRB3 - PRO11SER 15 15 SER PHE EPILEPSY - CHILDHOOD ABSENCE - SUSCEPTIBILITY TO - 5 GABRB3 - SER15PHE 32 32 GLY ARG EPILEPSY - CHILDHOOD ABSENCE - SUSCEPTIBILITY TO - 5 GABRB3 - GLY32ARG 1 1 MET ARG GELATINOUS DROP-LIKE CORNEAL DYSTROPHY TACSTD2 - MET1ARG 119 119 CYS SER GELATINOUS DROP-LIKE CORNEAL DYSTROPHY TACSTD2 - CYS119SER 186 186 LEU PRO GELATINOUS DROP-LIKE CORNEAL DYSTROPHY TACSTD2 - LEU186PRO 187 214 ASP ASN AMYLOIDOSIS - FAMILIAL - FINNISH TYPE AMYLOIDOSIS - MERETOJA TYPE GSN - ASP187ASN 187 214 ASP TYR AMYLOIDOSIS - FAMILIAL - FINNISH TYPE GSN - ASP187TYR 239 239 ARG CYS ALEXANDER DISEASE GFAP - ARG239CYS 239 239 ARG HIS ALEXANDER DISEASE GFAP - ARG239HIS 416 416 ARG TRP ALEXANDER DISEASE GFAP - ARG416TRP 79 79 ARG HIS ALEXANDER DISEASE GFAP - ARG79HIS 79 79 ARG CYS ALEXANDER DISEASE GFAP - ARG79CYS 88 88 ARG CYS ALEXANDER DISEASE GFAP - ARG88CYS 88 88 ARG SER ALEXANDER DISEASE GFAP - ARG88SER 76 76 LEU PHE ALEXANDER DISEASE GFAP - LEU76PHE 77 77 ASN TYR ALEXANDER DISEASE GFAP - ASN77TYR 362 362 GLU ASP ALEXANDER DISEASE GFAP - GLU362ASP 276 276 ARG LEU ALEXANDER DISEASE GFAP - ARG276LEU 352 352 LEU PRO ALEXANDER DISEASE GFAP - LEU352PRO 78 78 ASP GLU ALEXANDER DISEASE GFAP - ASP78GLU 50 50 ARG GLN MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) MPV17 - ARG50GLN 166 166 ASN LYS MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) MPV17 - ASN166LYS 50 50 ARG TRP MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) MPV17 - ARG50TRP 24 24 GLY TRP MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) MPV17 - GLY24TRP 40 40 GLY SER DIABETES MELLITUS - TYPE II GCGR - GLY40SER 641 641 ASP VAL GLUCOCORTICOID RESISTANCE - FAMILIAL NR3C1 - ASP641VAL 753 753 LEU PHE GLUCOCORTICOID RESISTANCE - CELLULAR NR3C1 - LEU753PHE 363 363 ASN SER GLUCOCORTICOID RECEPTOR POLYMORPHISM NR3C1 - ASN363SER 559 559 ILE ASN GLUCOCORTICOID RESISTANCE - GENERALIZED NR3C1 - ILE559ASN 747 747 ILE MET GLUCOCORTICOID RESISTANCE - FAMILIAL NR3C1 - ILE747MET 571 571 VAL ALA PSEUDOHERMAPHRODITISM - FEMALE - WITH HYPOKALEMIA - DUE TO GLUCOCORTICOID RESISTANCE NR3C1 - VAL571ALA 773 773 LEU PRO GLUCOCORTICOID RESISTANCE - GENERALIZED NR3C1 - LEU773PRO 477 477 ARG HIS GLUCOCORTICOID RESISTANCE - GENERALIZED NR3C1 - ARG477HIS 679 679 GLY SER GLUCOCORTICOID RESISTANCE - GENERALIZED NR3C1 - GLY679SER 737 737 PHE LEU GLUCOCORTICOID RESISTANCE - GENERALIZED NR3C1 - PHE737LEU 228 228 THR MET MATURITY-ONSET DIABETES OF THE YOUNG - TYPE II GCK - THR228MET 261 261 GLY ARG MATURITY-ONSET DIABETES OF THE YOUNG - TYPE II GCK - GLY261ARG 299 299 GLY ARG MATURITY-ONSET DIABETES OF THE YOUNG - TYPE II GCK - GLY299ARG 131 131 SER PRO DIABETES MELLITUS - GESTATIONAL GCK - SER131PRO 455 455 VAL MET HYPERINSULINEMIC HYPOGLYCEMIA - FAMILIAL - 3 GCK - VAL455MET 210 210 MET LYS DIABETES MELLITUS - PERMANENT NEONATAL MATURITY-ONSET DIABETES OF THE YOUNG - TYPE II - INCLUDED GCK - MET210LYS 228 228 THR MET DIABETES MELLITUS - PERMANENT NEONATAL MATURITY-ONSET DIABETES OF THE YOUNG - TYPE II - INCLUDED GCK - THR228MET 456 456 ALA VAL HYPERINSULINEMIC HYPOGLYCEMIA - FAMILIAL - 3 GCK - ALA456VAL 214 214 TYR CYS HYPERINSULINEMIC HYPOGLYCEMIA - FAMILIAL - 3 GCK - TYR214CYS 378 378 ALA THR MATURITY-ONSET DIABETES OF THE YOUNG - TYPE II GCK - ALA378THR 91 91 VAL LEU HYPERINSULINEMIC HYPOGLYCEMIA - FAMILIAL - 3 GCK - VAL91LEU 453 453 ARG GLN CORTISONE REDUCTASE DEFICIENCY H6PD - ARG453GLN 454 507 HIS TYR HYPERINSULINEMIC HYPOGLYCEMIA - FAMILIAL - 6 GLUD1 - HIS454TYR 445 498 SER LEU HYPERINSULINEMIC HYPOGLYCEMIA - FAMILIAL - 6 GLUD1 - SER445LEU 448 501 SER PRO HYPERINSULINEMIC HYPOGLYCEMIA - FAMILIAL - 6 GLUD1 - SER448PRO 446 499 GLY SER HYPERINSULINEMIC HYPOGLYCEMIA - FAMILIAL - 6 GLUD1 - GLY446SER 446 499 GLY ASP HYPERINSULINEMIC HYPOGLYCEMIA - FAMILIAL - 6 GLUD1 - GLY446ASP 296 349 GLU ALA HYPERINSULINEMIC HYPOGLYCEMIA - FAMILIAL - 6 GLUD1 - GLU296ALA 265 318 ARG LYS HYPERINSULINEMIC HYPOGLYCEMIA - FAMILIAL - 6 GLUD1 - ARG265LYS 221 274 ARG CYS HYPERINSULINEMIC HYPOGLYCEMIA - FAMILIAL - 6 GLUD1 - ARG221CYS 269 322 ARG HIS HYPERINSULINEMIC HYPOGLYCEMIA - FAMILIAL - 6 GLUD1 - ARG269HIS 256 256 LYS VAL GLUT1 DEFICIENCY SYNDROME 1 - AUTOSOMAL RECESSIVE SLC2A1 - LYS256VAL 126 126 ARG LEU GLUT1 DEFICIENCY SYNDROME 1 - AUTOSOMAL RECESSIVE SLC2A1 - ARG126LEU 91 91 GLY ASP GLUT1 DEFICIENCY SYNDROME 1 SLC2A1 - GLY91ASP 126 126 ARG HIS GLUT1 DEFICIENCY SYNDROME 1 SLC2A1 - ARG126HIS 314 314 GLY SER GLUT1 DEFICIENCY SYNDROME 2 SLC2A1 - GLY314SER 275 275 ALA THR GLUT1 DEFICIENCY SYNDROME 2 SLC2A1 - ALA275THR 34 34 ASN ILE GLUT1 DEFICIENCY SYNDROME 1 SLC2A1 - ASN34ILE 95 95 SER ILE GLUT1 DEFICIENCY SYNDROME 2 SLC2A1 - SER95ILE 93 93 ARG TRP GLUT1 DEFICIENCY SYNDROME 1 SLC2A1 - ARG93TRP 126 126 ARG CYS GLUT1 DEFICIENCY SYNDROME 1 SLC2A1 - ARG126CYS 91 91 ARG TRP GLUT1 DEFICIENCY SYNDROME 2 SLC2A1 - ARG91TRP 468 468 ARG TRP GLUT1 DEFICIENCY SYNDROME 1 - AUTOSOMAL RECESSIVE SLC2A1 - ARG468TRP 197 197 VAL ILE DIABETES MELLITUS - NONINSULIN-DEPENDENT SLC2A2 - VAL197ILE 417 417 PRO LEU FANCONI-BICKEL SYNDROME SLC2A2 - PRO417LEU 423 423 VAL GLU FANCONI-BICKEL SYNDROME SLC2A2 - VAL423GLU 389 389 LEU PRO FANCONI-BICKEL SYNDROME SLC2A2 - LEU389PRO 383 383 VAL ILE DIABETES MELLITUS - NONINSULIN-DEPENDENT SLC2A4 - VAL383ILE 14 14 HIS ASP GLUTAMIC-PYRUVATE TRANSAMINASE POLYMORPHISM GPT - HIS14ASP 84 84 ARG GLN MENTAL RETARDATION - JOINT HYPERMOBILITY - AND SKIN LAXITY - WITH METABOLIC ABNORMALITIES ALDH18A1 - ARG84GLN 784 784 HIS TYR MENTAL RETARDATION - JOINT HYPERMOBILITY - AND SKIN LAXITY - WITHOUT METABOLIC ABNORMALITIES ALDH18A1 - HIS784TYR 324 324 ARG CYS GLUTAMINE DEFICIENCY - CONGENITAL GLUL - ARG324CYS 341 341 ARG CYS GLUTAMINE DEFICIENCY - CONGENITAL GLUL - ARG341CYS 197 197 PRO LEU GLUTATHIONE PEROXIDASE POLYMORPHISM GPX1 - PRO197LEU 635 635 PHE SER DIABETES MELLITUS - TYPE II GPD2 - PHE635SER 8 8 ARG GLN FACTOR B FAST-SLOW POLYMORPHISM BF*FA/S CFB - ARG8GLN 8 8 ARG TRP FACTOR B FAST-SLOW POLYMORPHISM BF*FB/S CFB - ARG8TRP 9 9 LEU HIS MACULAR DEGENERATION - AGE-RELATED - REDUCED RISK OF CFB - LEU9HIS 32 32 ARG GLN MACULAR DEGENERATION - AGE-RELATED - REDUCED RISK OF CFB - ARG32GLN 286 286 PHE LEU HEMOLYTIC UREMIC SYNDROME - ATYPICAL - SUSCEPTIBILITY TO - 4 CFB - PHE286LEU 323 323 LYS GLU HEMOLYTIC UREMIC SYNDROME - ATYPICAL - SUSCEPTIBILITY TO - 4 CFB - LYS323GLU 271 299 ARG LEU HYPEREKPLEXIA - AUTOSOMAL DOMINANT GLRA1 - ARG271LEU 271 299 ARG GLN HYPEREKPLEXIA - AUTOSOMAL DOMINANT GLRA1 - ARG271GLN 244 272 ILE ASN HYPEREKPLEXIA - AUTOSOMAL RECESSIVE GLRA1 - ILE244ASN 279 307 TYR CYS HYPEREKPLEXIA - AUTOSOMAL DOMINANT GLRA1 - TYR279CYS 266 294 GLN HIS HYPEREKPLEXIA - AUTOSOMAL DOMINANT GLRA1 - GLN266HIS 276 304 LYS GLU HYPEREKPLEXIA AND SPASTIC PARAPARESIS GLRA1 - LYS276GLU 250 278 PRO THR HYPEREKPLEXIA - AUTOSOMAL DOMINANT GLRA1 - PRO250THR 147 175 MET VAL HYPEREKPLEXIA - AUTOSOMAL RECESSIVE GLRA1 - MET147VAL 260 288 VAL MET HYPEREKPLEXIA - AUTOSOMAL DOMINANT GLRA1 - VAL260MET 231 259 SER ARG HYPEREKPLEXIA - AUTOSOMAL RECESSIVE GLRA1 - SER231ARG 267 295 SER ASN HYPEREKPLEXIA - AUTOSOMAL DOMINANT GLRA1 - SER267ASN 229 229 GLY ASP HYPEREKPLEXIA - AUTOSOMAL RECESSIVE GLRB - GLY229ASP 479 479 PRO GLN GLYCOGEN STORAGE DISEASE 0 - LIVER GYS2 - PRO479GLN 339 339 ALA PRO GLYCOGEN STORAGE DISEASE 0 - LIVER GYS2 - ALA339PRO 491 491 MET ARG GLYCOGEN STORAGE DISEASE 0 - LIVER GYS2 - MET491ARG 39 39 ASN SER GLYCOGEN STORAGE DISEASE 0 - LIVER GYS2 - ASN39SER 483 483 SER PRO GLYCOGEN STORAGE DISEASE 0 - LIVER GYS2 - SER483PRO 446 446 HIS ASP GLYCOGEN STORAGE DISEASE 0 - LIVER GYS2 - HIS446ASP 230 248 THR MET LEANNESS - SUSCEPTIBILITY TO AHSG - THR230MET 238 256 THR SER LEANNESS - SUSCEPTIBILITY TO AHSG - THR238SER 247 247 VAL LEU APOH POLYMORPHISM APOH - VAL247LEU 88 113 TYR CYS MACROTHROMBOCYTOPENIA - FAMILIAL - BERNARD-SOULIER TYPE GP1BB - TYR88CYS 108 133 ALA PRO MACROTHROMBOCYTOPENIA - FAMILIAL - BERNARD-SOULIER TYPE GP1BB - ALA108PRO 111 111 ALA GLU RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE GLO1 - ALA111GLU (dbSNP rs2736654) 106 106 GLN ARG HYPOGONADOTROPIC HYPOGONADISM FERTILE EUNUCH SYNDROME - INCLUDED GNRHR - GLN106ARG 262 262 ARG GLN HYPOGONADOTROPIC HYPOGONADISM GNRHR - ARG262GLN 284 284 TYR CYS HYPOGONADOTROPIC HYPOGONADISM GNRHR - TYR284CYS 129 129 ALA ASP HYPOGONADOTROPIC HYPOGONADISM GNRHR - ALA129ASP 217 217 SER ARG HYPOGONADOTROPIC HYPOGONADISM GNRHR - SER217ARG 168 168 SER ARG HYPOGONADOTROPIC HYPOGONADISM GNRHR - SER168ARG 139 139 ARG HIS HYPOGONADOTROPIC HYPOGONADISM GNRHR - ARG139HIS 10 10 ASN LYS HYPOGONADOTROPIC HYPOGONADISM GNRHR - ASN10LYS 90 90 GLU LYS HYPOGONADOTROPIC HYPOGONADISM GNRHR - GLU90LYS 171 171 ALA THR HYPOGONADOTROPIC HYPOGONADISM GNRHR - ALA171THR 11 11 GLN LYS HYPOGONADOTROPIC HYPOGONADISM GNRHR - ASN10LYS - GLN11LYS 10 10 ASN LYS HYPOGONADOTROPIC HYPOGONADISM GNRHR - ASN10LYS - GLN11LYS 320 320 PRO LEU HYPOGONADOTROPIC HYPOGONADISM GNRHR - PRO320LEU 1 1 MET THR FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS GRN - MET1THR 1 1 MET ILE FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS GRN - MET1ILE 9 9 ALA ASP FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS GRN - ALA9ASP 617 618 THR ASN NEUTROPHILIA - HEREDITARY CSF3R - THR617ASN 398 398 ARG LEU BASAL CELL CARCINOMA - SOMATIC RASA1 - ARG398LEU 400 400 LYS GLY BASAL CELL CARCINOMA - SOMATIC RASA1 - LYS400GLY 401 401 ILE VAL BASAL CELL CARCINOMA - SOMATIC RASA1 - ILE401VAL 540 540 CYS TYR CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION RASA1 - CYS540TYR 144 144 LEU HIS ISOLATED GROWTH HORMONE DEFICIENCY - TYPE IB GHRHR - LEU144HIS 242 242 PHE CYS ISOLATED GROWTH HORMONE DEFICIENCY - TYPE IB GHRHR - PHE242CYS 222 222 ALA GLU ISOLATED GROWTH HORMONE DEFICIENCY - TYPE IB GHRHR - ALA222GLU 329 329 LYS GLU ISOLATED GROWTH HORMONE DEFICIENCY - TYPE IB GHRHR - LYS329GLU 420 340 THR LYS GC1/GC2 POLYMORPHISM GC - THR420LYS 416 336 ASP GLU GC1/GC2 POLYMORPHISM GC - ASP416GLU 77 103 ARG CYS KOWARSKI SYNDROME GH1 - ARG77CYS 112 138 ASP GLY KOWARSKI SYNDROME GH1 - ASP112GLY 53 79 CYS SER KOWARSKI SYNDROME GH1 - CYS53SER 183 209 ARG HIS ISOLATED GROWTH HORMONE DEFICIENCY - TYPE II GH1 - ARG183HIS 256 256 PHE ILE GMP REDUCTASE POLYMORPHISM GMPR - PHE256ILE 1 1 MET VAL PSEUDOHYPOPARATHYROIDISM - TYPE IA GNAS - MET1VAL 99 742 LEU PRO PSEUDOHYPOPARATHYROIDISM - TYPE IA GNAS - LEU99PRO 165 165 CYS ARG PSEUDOHYPOPARATHYROIDISM - TYPE IA GNAS - CYS165ARG 201 844 ARG CYS MCCUNE-ALBRIGHT SYNDROME - SOMATIC - MOSAIC PITUITARY TUMOR - GROWTH HORMONE-SECRETING - SOMATIC - INCLUDED;; SEX CORD STROMAL TUMOR - SOMATIC - INCLUDED GNAS - ARG201CYS 201 844 ARG HIS MCCUNE-ALBRIGHT SYNDROME - SOMATIC - MOSAIC PITUITARY TUMOR - GROWTH HORMONE-SECRETING - SOMATIC - INCLUDED;; ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA - SOMATIC - INCLUDED;; SEX CORD STROMAL TUMOR - SOMATIC - INCLUDED GNAS - ARG201HIS 227 870 GLN ARG PITUITARY TUMOR - GROWTH HORMONE-SECRETING - SOMATIC PITUITARY ADENOMA - ACTH-SECRETING - SOMATIC - INCLUDED GNAS - GLN227ARG 227 870 GLN HIS PITUITARY ADENOMA - ACTH-SECRETING - SOMATIC GNAS - GLN227HIS 201 844 ARG SER PITUITARY TUMOR - GROWTH HORMONE-SECRETING - SOMATIC POLYOSTOTIC FIBROUS DYSPLASIA - SOMATIC - MOSAIC - INCLUDED;; ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA - SOMATIC - INCLUDED GNAS - ARG201SER 250 893 SER ARG PSEUDOHYPOPARATHYROIDISM - TYPE IA GNAS - SER250ARG 258 901 ARG TRP PSEUDOPSEUDOHYPOPARATHYROIDISM GNAS - ARG258TRP 258 901 ARG ALA PSEUDOPSEUDOHYPOPARATHYROIDISM GNAS - ARG258ALA 170 813 GLN ALA PSEUDOPSEUDOHYPOPARATHYROIDISM GNAS - GLN170ALA 366 1009 ALA SER PSEUDOHYPOPARATHYROIDISM - TYPE IA - WITH TESTOTOXICOSIS GNAS - ALA366SER 231 874 ARG HIS PSEUDOHYPOPARATHYROIDISM - TYPE IA GNAS - ARG231HIS 201 844 ARG GLY MCCUNE-ALBRIGHT SYNDROME - SOMATIC - MOSAIC GNAS - ARG201GLY 115 758 PRO LEU PSEUDOPSEUDOHYPOPARATHYROIDISM PSEUDOHYPOPARATHYROIDISM - TYPE IA - INCLUDED GNAS1 - PRO115LEU 138 138 ALA ASP PROLONGED BLEEDING TIME - BRACHYDACTYLY - AND MENTAL RETARDATION GNAS - 36-BP DUP - ALA138ASP - PRO161ARG 161 161 PRO ARG PROLONGED BLEEDING TIME - BRACHYDACTYLY - AND MENTAL RETARDATION GNAS - 36-BP DUP - ALA138ASP - PRO161ARG 1 1 MET VAL PSEUDOHYPOPARATHYROIDISM - TYPE IA GNAS - MET1VAL 99 742 LEU PRO PSEUDOHYPOPARATHYROIDISM - TYPE IA GNAS - LEU99PRO 165 165 CYS ARG PSEUDOHYPOPARATHYROIDISM - TYPE IA GNAS - CYS165ARG 201 844 ARG CYS MCCUNE-ALBRIGHT SYNDROME - SOMATIC - MOSAIC PITUITARY TUMOR - GROWTH HORMONE-SECRETING - SOMATIC - INCLUDED;; SEX CORD STROMAL TUMOR - SOMATIC - INCLUDED GNAS - ARG201CYS 201 844 ARG HIS MCCUNE-ALBRIGHT SYNDROME - SOMATIC - MOSAIC PITUITARY TUMOR - GROWTH HORMONE-SECRETING - SOMATIC - INCLUDED;; ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA - SOMATIC - INCLUDED;; SEX CORD STROMAL TUMOR - SOMATIC - INCLUDED GNAS - ARG201HIS 227 870 GLN ARG PITUITARY TUMOR - GROWTH HORMONE-SECRETING - SOMATIC PITUITARY ADENOMA - ACTH-SECRETING - SOMATIC - INCLUDED GNAS - GLN227ARG 227 870 GLN HIS PITUITARY ADENOMA - ACTH-SECRETING - SOMATIC GNAS - GLN227HIS 201 844 ARG SER PITUITARY TUMOR - GROWTH HORMONE-SECRETING - SOMATIC POLYOSTOTIC FIBROUS DYSPLASIA - SOMATIC - MOSAIC - INCLUDED;; ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA - SOMATIC - INCLUDED GNAS - ARG201SER 250 893 SER ARG PSEUDOHYPOPARATHYROIDISM - TYPE IA GNAS - SER250ARG 258 901 ARG TRP PSEUDOPSEUDOHYPOPARATHYROIDISM GNAS - ARG258TRP 258 901 ARG ALA PSEUDOPSEUDOHYPOPARATHYROIDISM GNAS - ARG258ALA 170 813 GLN ALA PSEUDOPSEUDOHYPOPARATHYROIDISM GNAS - GLN170ALA 366 1009 ALA SER PSEUDOHYPOPARATHYROIDISM - TYPE IA - WITH TESTOTOXICOSIS GNAS - ALA366SER 231 874 ARG HIS PSEUDOHYPOPARATHYROIDISM - TYPE IA GNAS - ARG231HIS 201 844 ARG GLY MCCUNE-ALBRIGHT SYNDROME - SOMATIC - MOSAIC GNAS - ARG201GLY 115 758 PRO LEU PSEUDOPSEUDOHYPOPARATHYROIDISM PSEUDOHYPOPARATHYROIDISM - TYPE IA - INCLUDED GNAS1 - PRO115LEU 138 138 ALA ASP PROLONGED BLEEDING TIME - BRACHYDACTYLY - AND MENTAL RETARDATION GNAS - 36-BP DUP - ALA138ASP - PRO161ARG 161 161 PRO ARG PROLONGED BLEEDING TIME - BRACHYDACTYLY - AND MENTAL RETARDATION GNAS - 36-BP DUP - ALA138ASP - PRO161ARG 1 1 MET VAL PSEUDOHYPOPARATHYROIDISM - TYPE IA GNAS - MET1VAL 99 742 LEU PRO PSEUDOHYPOPARATHYROIDISM - TYPE IA GNAS - LEU99PRO 165 165 CYS ARG PSEUDOHYPOPARATHYROIDISM - TYPE IA GNAS - CYS165ARG 201 844 ARG CYS MCCUNE-ALBRIGHT SYNDROME - SOMATIC - MOSAIC PITUITARY TUMOR - GROWTH HORMONE-SECRETING - SOMATIC - INCLUDED;; SEX CORD STROMAL TUMOR - SOMATIC - INCLUDED GNAS - ARG201CYS 201 844 ARG HIS MCCUNE-ALBRIGHT SYNDROME - SOMATIC - MOSAIC PITUITARY TUMOR - GROWTH HORMONE-SECRETING - SOMATIC - INCLUDED;; ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA - SOMATIC - INCLUDED;; SEX CORD STROMAL TUMOR - SOMATIC - INCLUDED GNAS - ARG201HIS 227 870 GLN ARG PITUITARY TUMOR - GROWTH HORMONE-SECRETING - SOMATIC PITUITARY ADENOMA - ACTH-SECRETING - SOMATIC - INCLUDED GNAS - GLN227ARG 227 870 GLN HIS PITUITARY ADENOMA - ACTH-SECRETING - SOMATIC GNAS - GLN227HIS 201 844 ARG SER PITUITARY TUMOR - GROWTH HORMONE-SECRETING - SOMATIC POLYOSTOTIC FIBROUS DYSPLASIA - SOMATIC - MOSAIC - INCLUDED;; ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA - SOMATIC - INCLUDED GNAS - ARG201SER 250 893 SER ARG PSEUDOHYPOPARATHYROIDISM - TYPE IA GNAS - SER250ARG 258 901 ARG TRP PSEUDOPSEUDOHYPOPARATHYROIDISM GNAS - ARG258TRP 258 901 ARG ALA PSEUDOPSEUDOHYPOPARATHYROIDISM GNAS - ARG258ALA 170 813 GLN ALA PSEUDOPSEUDOHYPOPARATHYROIDISM GNAS - GLN170ALA 366 1009 ALA SER PSEUDOHYPOPARATHYROIDISM - TYPE IA - WITH TESTOTOXICOSIS GNAS - ALA366SER 231 874 ARG HIS PSEUDOHYPOPARATHYROIDISM - TYPE IA GNAS - ARG231HIS 201 844 ARG GLY MCCUNE-ALBRIGHT SYNDROME - SOMATIC - MOSAIC GNAS - ARG201GLY 115 758 PRO LEU PSEUDOPSEUDOHYPOPARATHYROIDISM PSEUDOHYPOPARATHYROIDISM - TYPE IA - INCLUDED GNAS1 - PRO115LEU 138 138 ALA ASP PROLONGED BLEEDING TIME - BRACHYDACTYLY - AND MENTAL RETARDATION GNAS - 36-BP DUP - ALA138ASP - PRO161ARG 161 161 PRO ARG PROLONGED BLEEDING TIME - BRACHYDACTYLY - AND MENTAL RETARDATION GNAS - 36-BP DUP - ALA138ASP - PRO161ARG 1 1 MET VAL PSEUDOHYPOPARATHYROIDISM - TYPE IA GNAS - MET1VAL 99 742 LEU PRO PSEUDOHYPOPARATHYROIDISM - TYPE IA GNAS - LEU99PRO 165 165 CYS ARG PSEUDOHYPOPARATHYROIDISM - TYPE IA GNAS - CYS165ARG 201 844 ARG CYS MCCUNE-ALBRIGHT SYNDROME - SOMATIC - MOSAIC PITUITARY TUMOR - GROWTH HORMONE-SECRETING - SOMATIC - INCLUDED;; SEX CORD STROMAL TUMOR - SOMATIC - INCLUDED GNAS - ARG201CYS 201 844 ARG HIS MCCUNE-ALBRIGHT SYNDROME - SOMATIC - MOSAIC PITUITARY TUMOR - GROWTH HORMONE-SECRETING - SOMATIC - INCLUDED;; ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA - SOMATIC - INCLUDED;; SEX CORD STROMAL TUMOR - SOMATIC - INCLUDED GNAS - ARG201HIS 227 870 GLN ARG PITUITARY TUMOR - GROWTH HORMONE-SECRETING - SOMATIC PITUITARY ADENOMA - ACTH-SECRETING - SOMATIC - INCLUDED GNAS - GLN227ARG 227 870 GLN HIS PITUITARY ADENOMA - ACTH-SECRETING - SOMATIC GNAS - GLN227HIS 201 844 ARG SER PITUITARY TUMOR - GROWTH HORMONE-SECRETING - SOMATIC POLYOSTOTIC FIBROUS DYSPLASIA - SOMATIC - MOSAIC - INCLUDED;; ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA - SOMATIC - INCLUDED GNAS - ARG201SER 250 893 SER ARG PSEUDOHYPOPARATHYROIDISM - TYPE IA GNAS - SER250ARG 258 901 ARG TRP PSEUDOPSEUDOHYPOPARATHYROIDISM GNAS - ARG258TRP 258 901 ARG ALA PSEUDOPSEUDOHYPOPARATHYROIDISM GNAS - ARG258ALA 170 813 GLN ALA PSEUDOPSEUDOHYPOPARATHYROIDISM GNAS - GLN170ALA 366 1009 ALA SER PSEUDOHYPOPARATHYROIDISM - TYPE IA - WITH TESTOTOXICOSIS GNAS - ALA366SER 231 874 ARG HIS PSEUDOHYPOPARATHYROIDISM - TYPE IA GNAS - ARG231HIS 201 844 ARG GLY MCCUNE-ALBRIGHT SYNDROME - SOMATIC - MOSAIC GNAS - ARG201GLY 115 758 PRO LEU PSEUDOPSEUDOHYPOPARATHYROIDISM PSEUDOHYPOPARATHYROIDISM - TYPE IA - INCLUDED GNAS1 - PRO115LEU 138 138 ALA ASP PROLONGED BLEEDING TIME - BRACHYDACTYLY - AND MENTAL RETARDATION GNAS - 36-BP DUP - ALA138ASP - PRO161ARG 161 161 PRO ARG PROLONGED BLEEDING TIME - BRACHYDACTYLY - AND MENTAL RETARDATION GNAS - 36-BP DUP - ALA138ASP - PRO161ARG 38 38 GLY ASP NIGHT BLINDNESS - CONGENITAL STATIONARY - AUTOSOMAL DOMINANT 3 GNAT1 - GLY38ASP 310 311 GLU GLN EPIDERMOLYTIC HYPERKERATOSIS KRT1 - GLU310GLN 160 161 LEU PRO EPIDERMOLYTIC HYPERKERATOSIS KRT1 - LEU160PRO 481 482 TYR CYS EPIDERMOLYTIC HYPERKERATOSIS KRT1 - TYR481CYS 73 74 LYS ILE PALMOPLANTAR KERATODERMA - NONEPIDERMOLYTIC KRT1 - LYS73ILE 479 479 ILE THR ICHTHYOSIS - CYCLIC - WITH EPIDERMOLYTIC HYPERKERATOSIS KRT1 - ILE479THR 479 479 ILE PHE ICHTHYOSIS - CYCLIC - WITH EPIDERMOLYTIC HYPERKERATOSIS KRT1 - ILE479PHE 155 155 VAL ASP EPIDERMOLYTIC HYPERKERATOSIS KRT1 - VAL155ASP 187 188 ASN LYS EPIDERMOLYTIC HYPERKERATOSIS KRT1 - ASN187LYS 475 475 LEU PRO EPIDERMOLYTIC HYPERKERATOSIS KRT1 - LEU475PRO 179 179 ARG CYS ADRENAL CORTICAL TUMOR - SOMATIC GRANULOSA CELL TUMOR - SOMATIC - INCLUDED;; THECOMA - SOMATIC - INCLUDED GNAI2 - ARG179CYS 179 179 ARG HIS ADRENAL CORTICAL TUMOR - SOMATIC GRANULOSA CELL TUMOR - SOMATIC - INCLUDED;; THECOMA - SOMATIC - INCLUDED GNAI2 - ARG179HIS 179 179 ARG GLY PITUITARY ADENOMA - ACTH-SECRETING - SOMATIC GNAI2 - ARG179GLY 200 200 PHE LEU VENTRICULAR TACHYCARDIA - SOMATIC GNAI2 - PHE200LEU 54 57 LYS GLU HAPTOGLOBIN - ALPHA-1 - FAST-SLOW POLYMORPHISM HP - LYS54GLU 247 250 ILE THR ANHAPTOGLOBINEMIA HP - ILE247THR 50 51 HIS ARG HEMOGLOBIN AICHI HBA1 - HIS50ARG 11 12 LYS ASN HEMOGLOBIN ALBANY-GEORGIA HEMOGLOBIN ALBANY-SUMA HBA1 - LYS11ASN 11 12 LYS GLU HEMOGLOBIN ANANTHARAJ HBA1 - LYS11GLU 80 81 LEU ARG HEMOGLOBIN ANN ARBOR HBA1 - LEU80ARG 47 48 ASP ASN HEMOGLOBIN ARYA HBA1 - ASP47ASN 85 86 ASP TYR HEMOGLOBIN ATAGO HBA1 - ASP85TYR 138 139 SER PRO HEMOGLOBIN ATTLEBORO HBA1 - SER138PRO 76 77 MET THR HEMOGLOBIN AZTEC HBA1 - MET76THR 45 46 HIS GLN HEMOGLOBIN BARI HBA1 - HIS45GLN 16 17 LYS ASN HEMOGLOBIN BEIJING HBA1 - LYS16ASN 136 137 LEU PRO HEMOGLOBIN BIBBA HBA1 - LEU136PRO 37 38 PRO ARG HEMOGLOBIN BOURMEDES HBA1 - PRO37ARG 90 91 LYS ASN HEMOGLOBIN BROUSSAIS HEMOGLOBIN J (BROUSSAIS);; HEMOGLOBIN TAGAWA I HBA1 - LYS90ASN 23 24 GLU LYS HEMOGLOBIN CHAD HBA1 - GLU23LYS 74 75 ASP GLY HEMOGLOBIN CHAPEL HILL HBA1 - ASP74GLY 92 93 ARG LEU HEMOGLOBIN CHESAPEAKE HBA1 - ARG92LEU 114 115 PRO ARG HEMOGLOBIN CHIAPAS HBA1 - PRO114ARG 136 137 LEU MET HEMOGLOBIN CHICAGO HBA1 - LEU136MET 2 3 LEU ARG HEMOGLOBIN CHONGQING HBA1 - LEU2ARG 103 104 HIS ARG HEMOGLOBIN CONTALDO HBA1 - HIS103ARG 47 48 ASP ALA HEMOGLOBIN CORDELE HBA1 - ASP47ALA 60 61 LYS GLU HEMOGLOBIN DAGESTAN HBA1 - LYS60GLU 97 98 ASN LYS HEMOGLOBIN DALLAS HBA1 - ASN97LYS 72 73 HIS ARG HEMOGLOBIN DANESHGAH-TEHRAN HBA1 - HIS72ARG 95 96 PRO ALA HEMOGLOBIN DENMARK HILL HBA1 - PRO95ALA 75 76 ASP ALA HEMOGLOBIN DUAN HBA1 - ASP75ALA 6 7 ASP ASN HEMOGLOBIN DUNN HBA1 - ASP6ASN 84 85 SER ARG HEMOGLOBIN ETOBICOKE HBA1 - SER84ARG 14 15 TRP ARG HEMOGLOBIN EVANSTON HBA1 - TRP14ARG 6 7 ASP VAL HEMOGLOBIN FERNDOWN HBA1 - ASP6VAL 21 22 ALA PRO HEMOGLOBIN FONTAINEBLEAU HBA1 - ALA21PRO 45 46 HIS ARG HEMOGLOBIN FORT DE FRANCE HBA1 - HIS45ARG 23 24 GLU VAL HEMOGLOBIN G (AUDHALI) HBA1 - GLU23VAL 27 28 GLU GLY HEMOGLOBIN G (FORT WORTH) HEMOGLOBIN FORT WORTH HBA1 - GLU27GLY 95 96 PRO LEU HEMOGLOBIN G (GEORGIA) HBA1 - PRO95LEU 85 86 ASP ASN HEMOGLOBIN G (NORFOLK) HBA1 - ASP85ASN 74 75 ASP ASN HEMOGLOBIN G (PEST) HBA1 - ASP74ASN 74 75 ASP HIS HEMOGLOBIN G (TAICHUNG) HEMOGLOBIN Q;; HEMOGLOBIN Q (THAILAND);; HEMOGLOBIN MAHIDOL;; HEMOGLOBIN ASABARA;; HEMOGLOBIN KURASHIKI HBA1 - ASP74HIS 64 65 ASP ASN HEMOGLOBIN G (WAIMANALO) HEMOGLOBIN AIDA HBA1 - ASP64ASN 82 83 ALA ASP HEMOGLOBIN GARDEN STATE HBA1 - ALA82ASP 64 65 ASP GLY HEMOGLOBIN GUANGZHOU HEMOGLOBIN HANGZHOU HBA1 - ASP64GLY 77 78 PRO ARG HEMOGLOBIN GUIZHOU HEMOGLOBIN UTSUNOMIYA HBA1 - PRO77ARG 90 91 LYS MET HEMOGLOBIN HANDA HEMOGLOBIN MUNAKATA HBA1 - LYS90MET 18 19 GLY ARG HEMOGLOBIN HANDSWORTH HBA1 - GLY18ARG 16 17 LYS MET HEMOGLOBIN HARBIN HBA1 - LYS16MET 27 28 GLU ASP HEMOGLOBIN HEKINAN HBA1 - GLU27ASP 43 44 PHE LEU HEMOGLOBIN HIROSAKI HBA1 - PHE43LEU 20 21 HIS ARG HEMOGLOBIN HOBART HBA1 - HIS20ARG 112 113 HIS ASP HEMOGLOBIN HOPKINS 2 HBA1 - HIS112ASP 16 17 LYS GLU HEMOGLOBIN I HEMOGLOBIN I (BURLINGTON);; HEMOGLOBIN I (PHILADELPHIA);; HEMOGLOBIN I (SKAMANIA);; HEMOGLOBIN I (TEXAS) HBA1 - LYS16GLU 87 88 HIS ARG HEMOGLOBIN IWATA HBA1 - HIS87ARG 51 52 GLY ASP HEMOGLOBIN J (ABIDJAN) HBA1 - GLY51ASP 61 62 LYS THR HEMOGLOBIN J (ANATOLIA) HBA1 - LYS61THR 120 121 ALA GLU HEMOGLOBIN J (BIRMINGHAM) HEMOGLOBIN J (MEERUT) HBA1 - ALA120GLU 141 142 ARG GLY HEMOGLOBIN J (CAMAGUEY) HBA1 - ARG141GLY 92 93 ARG GLN HEMOGLOBIN J (CAPE TOWN) HBA1 - ARG92GLN 141 142 ARG SER HEMOGLOBIN J (CUBUJUQUI) HBA1 - ARG141SER 71 72 ALA GLU HEMOGLOBIN J (HABANA) HBA1 - ALA71GLU 19 20 ALA ASP HEMOGLOBIN J (KUROSH) HBA1 - ALA19ASP 22 23 GLY ASP HEMOGLOBIN J (MEDELLIN) HBA1 - GLY22ASP 21 22 ALA ASP HEMOGLOBIN J (NYANZA) HBA1 - ALA21ASP 12 13 ALA ASP HEMOGLOBIN J (PARIS 1) HEMOGLOBIN J (ALJEZUR) HBA1 - ALA12ASP 90 91 LYS THR HEMOGLOBIN J (RAJAPPEN) HBA1 - LYS90THR 53 54 ALA ASP HEMOGLOBIN J (ROVIGO) HBA1 - ALA53ASP 78 79 ASN ASP HEMOGLOBIN J (SINGA) HBA1 - ASN78ASP 78 79 ASN ASP HEMOGLOBIN J (SINGAPORE) HBA1 - ASN78ASP AND ALA79GLY 79 80 ALA GLY HEMOGLOBIN J (SINGAPORE) HBA1 - ASN78ASP AND ALA79GLY 19 20 ALA GLU HEMOGLOBIN J (TASHIKUERGAN) HBA1 - ALA19GLU 115 116 ALA ASP HEMOGLOBIN J (TONGARIKI) HBA1 - ALA115ASP 5 6 ALA ASP HEMOGLOBIN J (TORONTO) HBA1 - ALA5ASP 127 128 LYS ASN HEMOGLOBIN JACKSON HBA1 - LYS127ASN 5 6 ALA PRO HEMOGLOBIN KARACHI HBA1 - ALA5PRO 40 41 LYS GLU HEMOGLOBIN KARIYA HBA1 - LYS40GLU 44 45 PRO ARG HEMOGLOBIN KAWACHI HBA1 - PRO44ARG 47 48 ASP GLY HEMOGLOBIN KOKURA HEMOGLOBIN BEILINSON;; HEMOGLOBIN MICHIGAN-I;; HEMOGLOBIN MICHIGAN-II;; HEMOGLOBIN L (GASLINI);; HEMOGLOBIN TAGAWA II;; HEMOGLOBIN UMI;; HEMOGLOBIN MUGINO;; HEMOGLOBIN YUKUHASHI-2 HBA1 - ASP47GLY 57 58 GLY ARG HEMOGLOBIN L (PERSIAN GULF) HBA1 - GLY57ARG 141 142 ARG LEU HEMOGLOBIN LEGNANO HBA1 - ARG141LEU 20 21 HIS GLN HEMOGLOBIN LE LAMENTIN HBA1 - HIS20GLN 74 75 ASP ALA HEMOGLOBIN LILLE HBA1 - ASP74ALA 88 89 ALA SER HEMOGLOBIN LOIRE HBA1 - ALA88SER 24 25 TYR HIS HEMOGLOBIN LUXEMBOURG HBA1 - TYR24HIS 58 59 HIS TYR HEMOGLOBIN M (BOSTON) HEMOGLOBIN GOTHENBURG;; HEMOGLOBIN M (GOTHENBURG);; HEMOGLOBIN M (OSAKA);; HEMOGLOBIN M (KISKUNHALAS) HBA1 - HIS58TYR 87 88 HIS TYR HEMOGLOBIN M (IWATE) HEMOGLOBIN M (KANKAKEE);; HEMOGLOBIN M (OLDENBURG);; HEMOGLOBIN M (SENDAI) HBA1 - HIS87TYR 75 76 ASP ASN HEMOGLOBIN MATSUE-OKI HBA1 - ASP75ASN 23 24 GLU GLN HEMOGLOBIN MEMPHIS HBA1 - GLU23GLN 54 55 GLN GLU HEMOGLOBIN MEXICO HEMOGLOBIN J;; HEMOGLOBIN J (MEXICO);; HEMOGLOBIN J (PARIS 2);; HEMOGLOBIN UPPSALA HBA1 - GLN54GLU 44 45 PRO LEU HEMOGLOBIN MILLEDGEVILLE HBA1 - PRO44LEU 41 42 THR SER HEMOGLOBIN MIYANO HBA1 - THR41SER 75 76 ASP GLY HEMOGLOBIN MIZUSHI HBA1 - ASP75GLY 86 87 LEU ARG HEMOGLOBIN MOABIT HBA1 - LEU86ARG 20 21 HIS TYR HEMOGLOBIN NECKER ENFANTS-MALADES HBA1 - HIS20TYR 81 82 SER CYS HEMOGLOBIN NIGERIA HBA1 - SER81CYS 76 77 MET LYS HEMOGLOBIN NOKO HBA1 - MET76LYS 57 58 GLY ASP HEMOGLOBIN NORFOLK HEMOGLOBIN J (NORFOLK);; HEMOGLOBIN KAGOSHIMA;; HEMOGLOBIN NISHIK HBA1 - GLY57ASP 114 115 PRO LEU HEMOGLOBIN NOUAKCHOTT HBA1 - PRO114LEU 141 142 ARG CYS HEMOGLOBIN NUNOBIKI HBA1 - ARG141CYS 116 117 GLU LYS HEMOGLOBIN O (INDONESIA) HEMOGLOBIN O (BUGINESE-X);; HEMOGLOBIN BUGINESE-X;; HEMOGLOBIN O (OLIVIERE);; HEMOGLOBIN OLIVIERE HBA1 - GLU116LYS 30 31 GLU LYS HEMOGLOBIN O (PADOVA) HBA1 - GLU30LYS 34 35 LEU ARG HEMOGLOBIN OGI HEMOGLOBIN QUEENS HBA1 - LEU34ARG 116 117 GLU GLN HEMOGLOBIN OLEANDER HBA1 - GLU116GLN 15 16 GLY ARG HEMOGLOBIN OTTAWA HEMOGLOBIN SIAM HBA1 - GLY15ARG 121 122 VAL MET HEMOGLOBIN OWARI HBA1 - VAL121MET 64 65 ASP TYR HEMOGLOBIN PERSPOLIS HBA1 - ASP64TYR 110 111 ALA ASP HEMOGLOBIN PETAH TIKVA HBA1 - ALA110ASP 63 64 ALA ASP HEMOGLOBIN PONTOISE HEMOGLOBIN J (PONTOISE) HBA1 - ALA63ASP 91 92 LEU PRO HEMOGLOBIN PORT PHILLIP HBA1 - LEU91PRO 64 65 ASP HIS HEMOGLOBIN Q (INDIA) HBA1 - ASP64HIS 75 76 ASP HIS HEMOGLOBIN Q (IRAN) HBA1 - ASP75HIS 23 24 GLU GLY HEMOGLOBIN REIMS HBA1 - GLU23GLY 51 52 GLY ARG HEMOGLOBIN RUSS HBA1 - GLY51ARG 126 127 ASP HIS HEMOGLOBIN SASSARI HBA1 - ASP126HIS 49 50 SER ARG HEMOGLOBIN SAVARIA HBA1 - SER49ARG 6 7 ASP ALA HEMOGLOBIN SAWARA HBA1 - ASP6ALA 94 95 ASP TYR HEMOGLOBIN SETIF HBA1 - ASP94TYR 56 57 LYS GLU HEMOGLOBIN SHAARE ZEDEK HBA1 - LYS56GLU 26 27 ALA GLU HEMOGLOBIN SHENYANG HBA1 - ALA26GLU 54 55 GLN ARG HEMOGLOBIN SHIMONOSEKI HEMOGLOBIN HIKOSHIMA HBA1 - GLN54ARG 27 28 GLU LYS HEMOGLOBIN SHUANGFENG HBA1 - GLU27LYS 141 142 ARG PRO HEMOGLOBIN SINGAPORE HBA1 - ARG141PRO 127 128 LYS THR HEMOGLOBIN ST. CLAUDE HBA1 - LYS127THR 95 96 PRO ARG HEMOGLOBIN ST. LUKE'S HBA1 - PRO95ARG 78 79 ASN LYS HEMOGLOBIN STANLEYVILLE-II HBA1 - ASN78LYS 112 113 HIS ARG HEMOGLOBIN STRUMICA HEMOGLOBIN SERBIA HBA1 - HIS112ARG 94 95 ASP HIS HEMOGLOBIN SUNSHINE SETH HBA1 - ASP94HIS 141 142 ARG HIS HEMOGLOBIN SURESNES HBA1 - ARG141HIS 6 7 ASP GLY HEMOGLOBIN SWAN RIVER HBA1 - ASP6GLY 56 57 LYS THR HEMOGLOBIN THAILAND HBA1 - LYS56THR 94 95 ASP ASN HEMOGLOBIN TITUSVILLE HBA1 - ASP94ASN 139 140 LYS THR HEMOGLOBIN TOKONAME HBA1 - LYS139THR 43 44 PHE VAL HEMOGLOBIN TORINO HBA1 - PHE43VAL 59 60 GLY VAL HEMOGLOBIN TOTTORI HBA1 - GLY59VAL 136 137 LEU ARG HEMOGLOBIN TOYAMA HEINZ BODY HEMOLYTIC ANEMIA HBA1 - LEU136ARG 113 114 LEU HIS HEMOGLOBIN TWIN PEAKS HBA1 - LEU113HIS 68 69 ASN ASP HEMOGLOBIN UBE-2 HBA1 - ASN68ASP 116 117 GLU ALA HEMOGLOBIN UBE-4 HBA1 - GLU116ALA 122 123 HIS GLN HEMOGLOBIN WESTMEAD HBA1 - HIS122GLN 75 76 ASP TYR HEMOGLOBIN WINNIPEG HBA1 - ASP75TYR 6 7 ASP TYR HEMOGLOBIN WOODVILLE HBA1 - ASP6TYR 11 12 LYS GLN HEMOGLOBIN WUMING HEMOGLOBIN J (WENCHANG-WUMING) HBA1 - LYS11GLN 60 61 LYS ASN HEMOGLOBIN ZAMBIA HBA1 - LYS60ASN 56 57 LYS ASN HEMOGLOBIN BELLIARD HBA1 - LYS56ASN 110 111 ALA THR HEMOGLOBIN TONOSHO HBA1 - ALA110THR 126 127 ASP VAL HEMOGLOBIN FUKUTOMI HBA1 - ASP126VAL 56 57 LYS ARG HEMOGLOBIN PORT HURON HBA1 - LYS56ARG 135 136 VAL GLU HEMOGLOBIN PAVIE HBA1 - VAL135GLU 131 132 SER PRO HEMOGLOBIN QUESTEMBERT HBA1 - SER131PRO 1 2 VAL GLU HEMOGLOBIN THIONVILLE HBA1 - NH2 EXTENSION - VAL1GLU 40 41 LYS MET HEMOGLOBIN KANAGAWA HBA1 - LYS40MET 99 100 LYS GLU HEMOGLOBIN TURRIFF HBA1 - LYS99GLU 89 90 HIS LEU HEMOGLOBIN LUTON HBA1 - HIS89LEU 71 72 ALA VAL HEMOGLOBIN OZIERI HBA1 - ALA71VAL 59 60 GLY ASP HEMOGLOBIN ADANA HBA1 - GLY59ASP 18 19 GLY ASP HEMOGLOBIN AL-AIN ABU DHABI HBA1 - GLY18ASP 45 46 HIS ASP HEMOGLOBIN POITIERS HBA1 - HIS45ASP 132 133 VAL GLY HEMOGLOBIN CAEN HBA1 - VAL132GLY 130 131 ALA ASP HEMOGLOBIN YUDA HBA1 - ALA130ASP 94 95 ASP GLY HEMOGLOBIN CAPA HBA1 - ASP94GLY 126 127 ASP TYR HEMOGLOBIN MONTEFIORE HBA1 - ASP126TYR 140 141 TYR HIS HEMOGLOBIN ROUEN HEMOGLOBIN ETHIOPIA HBA1 - TYR140HIS 114 115 PRO SER HEMOGLOBIN MELUSINE HBA1 - PRO114SER 92 93 ARG TRP HEMOGLOBIN CEMENELUM HBA1 - ARG92TRP 24 25 TYR CYS HEMOGLOBIN RAMONA HBA1 - TYR24CYS 7 8 LYS ASN HEMOGLOBIN TATRAS HBA1 - LYS7ASN 23 24 GLU ASP HEMOGLOBIN LISBON HBA1 - GLU23ASP 94 95 ASP GLU HEMOGLOBIN ROANNE HBA1 - ASP94GLU 123 124 ALA SER HEMOGLOBIN MALHACEN HBA1 - ALA123SER 129 130 LEU PRO HEMOGLOBIN TUNIS-BIZERTE HBA1 - LEU129PRO 65 66 ALA VAL HEMOGLOBIN BOIS GUILLAUME HBA1 - ALA65VAL 79 80 ALA THR HEMOGLOBIN MANTES-LA-JOLIE HBA1 - ALA79THR 111 112 ALA THR HEMOGLOBIN MOSELLA HBA1 - ALA111THR 72 73 HIS TYR HEMOGLOBIN FUCHU-I HBA1 - HIS72TYR 97 98 ASN HIS HEMOGLOBIN FUCHU-II HBA1 - ASN97HIS 72 73 HIS GLN HEMOGLOBIN GOUDA HBA1 - HIS72GLN 95 96 PRO THR HEMOGLOBIN GODAVARI HBA1 - PRO95THR 45 46 HIS PRO HEMOGLOBIN OITA HBA1 - HIS45PRO 103 104 HIS TYR HEMOGLOBIN CHAROLLES HBA1 - HIS103TYR 55 56 VAL LEU HEMOGLOBIN ROUBAIX HBA1 - VAL55LEU 3 4 SER PHE HEMOGLOBIN DOUALA HBA1 - SER3PHE 9 10 ASN LYS HEMOGLOBIN DELFZICHT HBA1 - ASN9LYS 40 41 LYS ASN HEMOGLOBIN SARATOGA SPRINGS HBA1 - LYS40ASN 93 94 VAL ALA HEMOGLOBIN DIE HBA1 - VAL93ALA 99 100 LYS ASN HEMOGLOBIN BEZIERS HBA1 - LYS99ASN 89 90 HIS GLN HEMOGLOBIN BUFFALO HBA1 - HIS89GLN 89 90 HIS TYR HEMOGLOBIN VILLEURBANNE HBA1 - HIS89TYR 89 90 HIS PRO HEMOGLOBIN TOKYO HBA1 - HIS89PRO 89 90 HIS ARG HEMOGLOBIN TAMANO HBA1 - HIS89ARG 51 52 GLY SER HEMOGLOBIN RICCARTON HBA1 - GLY51SER 104 105 CYS SER HEMOGLOBIN OEGSTGEEST HBA1 - CYS104SER 87 88 HIS ASN HEMOGLOBIN AUCKLAND HBA1 - HIS87ASN 139 140 LYS ASN HEMOGLOBIN WAYNE HBA2 - LYS139ASN 125 126 LEU PRO HEMOGLOBIN QUONG SZE HBA2 - LEU125PRO 62 63 VAL MET HEMOGLOBIN EVANS HBA2 - VAL62MET 109 110 LEU ARG HEMOGLOBIN SUAN-DOK HBA2 - LEU109ARG 61 62 LYS ASN HEMOGLOBIN J (BUDA) ERYTHROCYTOSIS HBA2 - LYS61ASN 27 28 GLU VAL HEMOGLOBIN SPANISH TOWN HBA2 - GLU27VAL 15 16 GLY ASP HEMOGLOBIN J (OXFORD) HEMOGLOBIN I (INTERLAKEN);; HEMOGLOBIN N (COSENZA) HBA2 - GLY15ASP 16 17 LYS GLU HEMOGLOBIN I HEMOGLOBIN I (BURLINGTON);; HEMOGLOBIN I (PHILADELPHIA);; HEMOGLOBIN I (SKAMANIA);; HEMOGLOBIN I (TEXAS) HBA2 - LYS16GLU 47 48 ASP HIS HEMOGLOBIN L (FERRARA) HEMOGLOBIN HASHARON;; HEMOGLOBIN SINAI;; HEMOGLOBIN SEALY HBA2 - ASP47HIS 48 49 LEU ARG HEMOGLOBIN MONTGOMERY HEMOGLOBIN BIRMINGHAM (USA) HBA2 - LEU48ARG 68 69 ASN LYS HEMOGLOBIN G (BRISTOL) HEMOGLOBIN D (BALTIMORE);; HEMOGLOBIN D (ST. LOUIS);; HEMOGLOBIN D (WASHINGTON);; HEMOGLOBIN G (AZAKUOLI);; HEMOGLOBIN G (KNOXVILLE);; HEMOGLOBIN G (PHILADELPHIA);; HEMOGLOBIN KNOXVILLE-1;; HEMOGLOBIN STANLEYVILLE-I HBA2 - ASN68LYS 85 86 ASP VAL HEMOGLOBIN INKSTER HBA2 - ASP85VAL 88 89 ALA VAL HEMOGLOBIN COLUMBIA MISSOURI HBA2 - ALA88VAL 130 131 ALA PRO HEMOGLOBIN SUN PRAIRIE HBA2 - ALA130PRO 78 79 ASN HIS HEMOGLOBIN DAVENPORT HBA2 - ASN78HIS 1 1 MET THR ALPHA-THALASSEMIA HBA2 - MET1THR 1 1 MET VAL HEMOGLOBIN H DISEASE HBA2 - MET1VAL 139 140 LYS GLU HEMOGLOBIN HANAMAKI HBA2 - LYS139GLU 47 48 ASP TYR HEMOGLOBIN KURDISTAN HBA2 - ASP47TYR 29 30 LEU PRO HEMOGLOBIN AGRINIO HYPOCHROMIC MICROCYTIC ANEMIA HBA2 - LEU29PRO 111 112 ALA VAL HEMOGLOBIN ANAMOSA HBA2 - ALA111VAL 136 137 LEU PRO HEMOGLOBIN BIBBA HBA2 - LEU136PRO 104 105 CYS TYR HEMOGLOBIN SALLANCHES HBA2 - CYS104TYR 80 81 LEU VAL HEMOGLOBIN CONAKRY HBA2 - LEU80VAL 50 51 HIS ASP HEMOGLOBIN J (SARDEGNA) HBA2 - HIS50ASP 126 127 ASP ASN HEMOGLOBIN TARRANT HBA2 - ASP126ASN 1 2 VAL GLY HEMOGLOBIN ANTANANARIVO HBA2 - VAL1GLY 58 59 HIS GLN HEMOGLOBIN BOGHE HBA2 - HIS58GLN 77 78 PRO HIS HEMOGLOBIN TOULON HBA2 - PRO77HIS 26 27 ALA VAL HEMOGLOBIN CAMPINAS HBA2 - ALA26VAL 20 21 HIS ASP HEMOGLOBIN NIKAIA HBA2 - HIS20ASP 90 91 LYS ARG HEMOGLOBIN CLINICO-MADRID HBA2 - LYS90ARG 66 67 LEU PRO HEMOGLOBIN DARTMOUTH HBA2 - LEU66PRO 55 56 VAL ALA HEMOGLOBIN GERLAND HBA2 - VAL55ALA 102 103 SER ARG HEMOGLOBIN MANITOBA HBA2 - SER102ARG 9 10 ASN LYS HEMOGLOBIN PARK RIDGE HBA2 - ASN9LYS 72 73 HIS ASP HEMOGLOBIN NORTON HBA2 - HIS72ASP 103 104 HIS TYR HEMOGLOBIN LOMBARD HBA2 - HIS103TYR 113 114 LEU ARG HEMOGLOBIN SAN ANTONIO HBA2 - LEU113ARG 95 96 PRO SER HEMOGLOBIN RAMPA HBA2 - PRO95SER 37 38 PRO LEU HEMOGLOBIN MANAWATU HBA2 - PRO37LEU 30 31 GLU GLN HEMOGLOBIN G (HONOLULU) HEMOGLOBIN G (HONG KONG);; HEMOGLOBIN G (SINGAPORE);; HEMOGLOBIN G (CHINESE) HBA2 - GLU30GLN 31 32 ARG SER HEMOGLOBIN PRATO HBA2 - ARG31SER 33 34 PHE SER HEMOGLOBIN CHARTRES HBA2 - PHE33SER 139 140 LYS ASN HEMOGLOBIN FUKUI HBA2 - LYS139ASN 65 66 ALA THR HEMOGLOBIN PART-DIEU HBA2 - ALA65THR 69 70 ALA THR HEMOGLOBIN DECINES-CHARPIEU HBA2 - ALA69THR 133 134 SER ARG HEMOGLOBIN VAL DE MARNE HEMOGLOBIN FOOTSCRAY HBA2 - SER133ARG 22 23 GLY GLY ALPHA-PLUS-THALASSEMIA HBA2 - GLY22GLY 59 60 GLY ARG HEMOGLOBIN ZURICH ALBISRIEDEN ALPHA-PLUS-THALASSEMIA HBA2 - GLY59ARG 81 82 SER PRO HEMOGLOBIN PASSY HBA2 - SER81PRO 125 126 LEU ARG HEMOGLOBIN PLASENCIA HBA2 - LEU125ARG 7 8 LYS GLU HEMOGLOBIN KUROSAKI HBA2 - LYS7GLU 75 76 ASP VAL HEMOGLOBIN AL-HAMMADI RIYADH HBA2 - ASP75VAL 74 75 GLY ARG HEMOGLOBIN AALBORG HBB - GLY74ARG 143 144 HIS ARG HEMOGLOBIN ABRUZZO HBB - HIS143ARG 90 91 GLU LYS HEMOGLOBIN AGENOGI HBB - GLU90LYS 39 40 GLN LYS HEMOGLOBIN ALABAMA HBB - GLN39LYS 19 20 ASN ASP HEMOGLOBIN ALAMO HBB - ASN19ASP 101 102 GLU GLY HEMOGLOBIN ALBERTA HBB - GLU101GLY 135 136 ALA PRO HEMOGLOBIN ALTDORF HBB - ALA135PRO 144 145 LYS ASN HEMOGLOBIN ANDREW-MINNEAPOLIS HBB - LYS144ASN 10 11 ALA ASP HEMOGLOBIN ANKARA HBB - ALA10ASP 6 7 GLU LYS HEMOGLOBIN ARLINGTON PARK HBB - GLU6LYS AND LYS95GLU 95 96 LYS GLU HEMOGLOBIN ARLINGTON PARK HBB - GLU6LYS AND LYS95GLU 40 41 ARG LYS HEMOGLOBIN ATHENS-GEORGIA HEMOGLOBIN WACO HBB - ARG40LYS 75 76 LEU PRO HEMOGLOBIN ATLANTA HBB - LEU75PRO 75 76 LEU PRO HEMOGLOBIN ATLANTA-COVENTRY HBB - LEU75PRO AND LEU141DEL 40 41 ARG SER HEMOGLOBIN AUSTIN HBB - ARG40SER 47 48 ASP ALA HEMOGLOBIN AVICENNA HBB - ASP47ALA 94 95 ASP HIS HEMOGLOBIN BARCELONA HBB - ASP94HIS 81 82 LEU ARG HEMOGLOBIN BAYLOR HBB - LEU81ARG 126 127 VAL ALA HEMOGLOBIN BEIRUT HBB - VAL126ALA 15 16 TRP ARG HEMOGLOBIN BELFAST HBB - TRP15ARG 121 122 GLU VAL HEMOGLOBIN BEOGRAD HEMOGLOBIN D (CAMPERDOWN) HBB - GLU121VAL 102 103 ASN SER HEMOGLOBIN BETH ISRAEL HBB - ASN102SER 145 146 TYR HIS HEMOGLOBIN BETHESDA HBB - TYR145HIS 63 64 HIS PRO HEMOGLOBIN BICETRE HBB - HIS63PRO 61 62 LYS MET HEMOGLOBIN BOLOGNA HBB - LYS61MET 88 89 LEU ARG HEMOGLOBIN BORAS HBB - LEU88ARG 119 120 GLY VAL HEMOGLOBIN BOUGARDIREY-MALI HBB - GLY119VAL 127 128 GLN LYS HEMOGLOBIN BREST HBB - GLN127LYS 100 101 PRO LEU HEMOGLOBIN BRIGHAM HBB - PRO100LEU 68 69 LEU HIS HEMOGLOBIN BRISBANE HEMOGLOBIN GREAT LAKES HBB - LEU68HIS 67 68 VAL MET HEMOGLOBIN BRISTOL HBB - VAL67MET-TO-ASP 101 102 GLU LYS HEMOGLOBIN BRITISH COLUMBIA HBB - GLU101LYS 138 139 ALA PRO HEMOGLOBIN BROCKTON HBB - ALA138PRO 85 86 PHE SER HEMOGLOBIN BRYN MAWR HEMOGLOBIN BUENOS AIRES HBB - PHE85SER 94 95 ASP ASN HEMOGLOBIN BUNBURY HBB - ASP94ASN 107 108 GLY ARG HEMOGLOBIN BURKE HBB - GLY107ARG 74 75 GLY VAL HEMOGLOBIN BUSHWICK HBB - GLY74VAL 6 7 GLU LYS HEMOGLOBIN C MALARIA - RESISTANCE TO - INCLUDED HBB - GLU6LYS 73 74 ASP ASN HEMOGLOBIN C (GEORGETOWN) HEMOGLOBIN C (HARLEM) HBB - GLU6VAL AND ASP73ASN 6 7 GLU VAL HEMOGLOBIN C (GEORGETOWN) HEMOGLOBIN C (HARLEM) HBB - GLU6VAL AND ASP73ASN 6 7 GLU VAL HEMOGLOBIN C (ZIGUINCHOR) HEMOGLOBIN ZIGUINCHOR HBB - GLU6VAL AND PRO58ARG 58 59 PRO ARG HEMOGLOBIN C (ZIGUINCHOR) HEMOGLOBIN ZIGUINCHOR HBB - GLU6VAL AND PRO58ARG 131 132 GLN GLU HEMOGLOBIN CAMDEN HEMOGLOBIN MOTOWN;; HEMOGLOBIN TOKUCHI HBB - GLN131GLU 104 105 ARG SER HEMOGLOBIN CAMPERDOWN HBB - ARG104SER 91 92 LEU ARG HEMOGLOBIN CARIBBEAN HBB - LEU91ARG 32 33 LEU ARG HEMOGLOBIN CASTILLA HBB - LEU32ARG 94 95 ASP GLY HEMOGLOBIN CHANDIGARH HBB - ASP94GLY 99 100 ASP VAL HEMOGLOBIN CHEMILLY HBB - ASP99VAL 45 46 PHE SER HEMOGLOBIN CHEVERLY HBB - PHE45SER 66 67 LYS THR HEMOGLOBIN CHICO HBB - LYS66THR 71 72 PHE SER HEMOGLOBIN CHRISTCHURCH HBB - PHE71SER 69 70 GLY SER HEMOGLOBIN CITY OF HOPE HBB - GLY69SER 146 147 HIS ARG HEMOGLOBIN COCHIN-PORT ROYAL HBB - HIS146ARG 21 22 ASP ASN HEMOGLOBIN COCODY HBB - ASP21ASN 60 61 VAL ALA HEMOGLOBIN COLLINGWOOD HBB - VAL60ALA 21 22 ASP GLY HEMOGLOBIN CONNECTICUT HBB - ASP21GLY 146 147 HIS LEU HEMOGLOBIN COWTOWN HBB - HIS146LEU 129 130 ALA PRO HEMOGLOBIN CRETE HBB - ALA129PRO 89 90 SER ASN HEMOGLOBIN CRETEIL HBB - SER89ASN 16 17 GLY ARG HEMOGLOBIN D (BUSHMAN) HBB - GLY16ARG 22 23 GLU VAL HEMOGLOBIN D (GRANADA) HBB - GLU22VAL 87 88 THR LYS HEMOGLOBIN D (IBADAN) HBB - THR87LYS 22 23 GLU GLN HEMOGLOBIN D (IRAN) HBB - GLU22GLN 19 20 ASN LYS HEMOGLOBIN D (OULED RABAH) HBB - ASN19LYS 121 122 GLU GLN HEMOGLOBIN D (PUNJAB) HEMOGLOBIN D (CHICAGO);; HEMOGLOBIN D (LOS ANGELES);; HEMOGLOBIN D (NORTH CAROLINA);; HEMOGLOBIN D (PORTUGAL);; HEMOGLOBIN OAK RIDGE HBB - GLU121GLN 2 3 HIS ARG HEMOGLOBIN DEER LODGE HBB - HIS2ARG 95 96 LYS ASN HEMOGLOBIN DETROIT HBB - LYS95ASN 98 99 VAL ALA HEMOGLOBIN DJELFA HBB - VAL98ALA 1 2 VAL GLU HEMOGLOBIN DOHA HBB - NH2 EXTENSION - VAL1GLU 62 63 ALA PRO HEMOGLOBIN DUARTE HBB - ALA62PRO 26 27 GLU LYS HEMOGLOBIN E BETA-PLUS-THALASSEMIA;; BETA-E-THALASSEMIA;; MALARIA - RESISTANCE TO - INCLUDED HBB - GLU26LYS 22 23 GLU LYS HEMOGLOBIN E (SASKATOON) HBB - GLU22LYS 50 51 THR LYS HEMOGLOBIN EDMONTON HBB - THR50LYS 133 134 VAL LEU HEMOGLOBIN EXTREMADURA HBB - VAL133LEU 111 112 VAL LEU HEMOGLOBIN FANNIN-LUBBOCK HBB - VAL111LEU AND GLY119ASP 119 120 GLY ASP HEMOGLOBIN FANNIN-LUBBOCK HBB - VAL111LEU AND GLY119ASP 2 3 HIS TYR HEMOGLOBIN FUKUOKA HBB - HIS2TYR 77 78 HIS TYR HEMOGLOBIN FUKUYAMA HBB - HIS77TYR 79 80 ASP ASN HEMOGLOBIN G (ACCRA) HBB - ASP79ASN 47 48 ASP ASN HEMOGLOBIN G (COPENHAGEN) HBB - ASP47ASN 22 23 GLU ALA HEMOGLOBIN G (COUSHATTA) HEMOGLOBIN G (SASKATOON);; HEMOGLOBIN G (HSIN-CHU);; HEMOGLOBIN G (TAEGU) HBB - GLU22ALA 57 58 ASN LYS HEMOGLOBIN G (FERRARA) HBB - ASN57LYS 43 44 GLU ALA HEMOGLOBIN G (GALVESTON) HEMOGLOBIN G (PORT ARTHUR);; HEMOGLOBIN G (TEXAS) HBB - GLU43ALA 79 80 ASP GLY HEMOGLOBIN G (HSI-TSOU) HBB - ASP79GLY 6 7 GLU ALA HEMOGLOBIN G (MAKASSAR) HBB - GLU6ALA 7 8 GLU GLY HEMOGLOBIN G (SAN JOSE) HBB - GLU7GLY 80 81 ASN LYS HEMOGLOBIN G (SZUHU) HEMOGLOBIN GIFU HBB - ASN80LYS 22 23 GLU GLY HEMOGLOBIN G (TAIPEI) HBB - GLU22GLY 25 26 GLY ARG HEMOGLOBIN G (TAIWAN-AMI) HBB - GLY25ARG 46 47 GLY ARG HEMOGLOBIN GAINESVILLE-GA HBB - GLY46ARG 47 48 ASP GLY HEMOGLOBIN GAVELLO HBB - ASP47GLY 139 140 ASN ASP HEMOGLOBIN GEELONG HEMOGLOBIN JINAN HBB - ASN139ASP 28 29 LEU PRO HEMOGLOBIN GENOVA HEMOGLOBIN HYOGO HBB - LEU28PRO 27 28 ALA VAL HEMOGLOBIN GRANGE-BLANCHE HBB - ALA27VAL 127 128 GLN GLU HEMOGLOBIN HACETTEPE HEMOGLOBIN COMPLUTENSE HBB - GLN127GLU 116 117 HIS GLN HEMOGLOBIN HAFNIA HBB - HIS116GLN 56 57 GLY ARG HEMOGLOBIN HAMADAN HBB - GLY56ARG 11 12 VAL ILE HEMOGLOBIN HAMILTON HBB - VAL11ILE 42 43 PHE SER HEMOGLOBIN HAMMERSMITH HEMOGLOBIN CHIBA;; HEINZ BODY HEMOLYTIC ANEMIA HBB - PHE42SER 38 39 THR PRO HEMOGLOBIN HAZEBROUCK HBB - THR38PRO 103 104 PHE LEU HEMOGLOBIN HEATHROW HBB - PHE103LEU 82 83 LYS MET HEMOGLOBIN HELSINKI HBB - LYS82MET 26 27 GLU VAL HEMOGLOBIN HENRI MONDOR HBB - GLU26VAL 120 121 LYS GLU HEMOGLOBIN HIJIYAMA HBB - LYS120GLU 61 62 LYS ASN HEMOGLOBIN HIKARI HBB - LYS61ASN 140 141 ALA ASP HEMOGLOBIN HIMEJI HBB - ALA140ASP 139 140 ASN LYS HEMOGLOBIN HINSDALE HBB - ASN139LYS 37 38 TRP SER HEMOGLOBIN HIROSE HBB - TRP37SER 146 147 HIS ASP HEMOGLOBIN HIROSHIMA HBB - HIS146ASP 126 127 VAL GLU HEMOGLOBIN HOFU HBB - VAL126GLU 136 137 GLY ASP HEMOGLOBIN HOPE HBB - GLY136ASP 43 44 GLU GLN HEMOGLOBIN HOSHIDA HEMOGLOBIN CHAYA HBB - GLU43GLN 99 100 ASP GLY HEMOGLOBIN HOTEL-DIEU HBB - ASP99GLY 59 60 LYS GLU HEMOGLOBIN I (HIGH WYCOMBE) HBB - LYS59GLU 66 67 LYS GLU HEMOGLOBIN I (TOULOUSE) HEMOGLOBIN TOULOUSE HBB - LYS66GLU 112 113 CYS ARG HEMOGLOBIN INDIANAPOLIS HEINZ BODY HEMOLYTIC ANEMIA HBB - CYS112ARG 92 93 HIS GLN HEMOGLOBIN ISTANBUL HEMOGLOBIN SAINT ETIENNE HBB - HIS92GLN 92 93 HIS ASP HEMOGLOBIN J (ALTGELD GARDENS) HBB - HIS92ASP 17 18 LYS ASN HEMOGLOBIN J (AMIENS) HBB - LYS17ASN 65 66 LYS MET HEMOGLOBIN J (ANTAKYA) HBB - LYS65MET 25 26 GLY ASP HEMOGLOBIN J (AUCKLAND) HBB - GLY25ASP 16 17 GLY ASP HEMOGLOBIN J (BALTIMORE) HEMOGLOBIN J (IRELAND);; HEMOGLOBIN J (TRINIDAD);; HEMOGLOBIN J (GEORGIA);; HEMOGLOBIN N (NEW HAVEN 2) HBB - GLY16ASP 56 57 GLY ASP HEMOGLOBIN J (BANGKOK) HEMOGLOBIN J (KORAT);; HEMOGLOBIN J (MANADO);; HEMOGLOBIN J (MEINUNG) HBB - GLY56ASP 65 66 LYS GLN HEMOGLOBIN J (CAIRO) HBB - LYS65GLN 64 65 GLY ASP HEMOGLOBIN J (CALABRIA) HEMOGLOBIN J (COSENZA);; HEMOGLOBIN J (BARI) HBB - GLY64ASP 76 77 ALA ASP HEMOGLOBIN J (CHICAGO) HBB - ALA76ASP 95 96 LYS MET HEMOGLOBIN J (CORDOBA) HBB - LYS95MET 57 58 ASN ASP HEMOGLOBIN J (DALOA) HBB - ASN57ASP 128 129 ALA ASP HEMOGLOBIN J (GUANTANAMO) HBB - ALA128ASP 77 78 HIS ASP HEMOGLOBIN J (IRAN) HBB - HIS77ASP 59 60 LYS THR HEMOGLOBIN J (KAOHSIUNG) HEMOGLOBIN J (HONOLULU) HBB - LYS59THR 13 14 ALA ASP HEMOGLOBIN J (LENS) HBB - ALA13ASP 59 60 LYS ASN HEMOGLOBIN J (LOME) HBB - LYS59ASN 8 9 LYS GLN HEMOGLOBIN J (LUHE) HBB - LYS8GLN 69 70 GLY ASP HEMOGLOBIN J (RAMBAM) HEMOGLOBIN J (CAMBRIDGE) HBB - GLY69ASP 65 66 LYS ASN HEMOGLOBIN J (SICILIA) HBB - LYS65ASN 129 130 ALA ASP HEMOGLOBIN J (TAICHUNG) HBB - ALA129ASP 120 121 LYS ILE HEMOGLOBIN JIANGHUA HBB - LYS120ILE 109 110 VAL LEU HEMOGLOBIN JOHNSTOWN HBB - VAL109LEU 129 130 ALA ASP HEMOGLOBIN K (CAMEROON) HBB - ALA129GLU OR ALA129ASP 129 130 ALA GLU HEMOGLOBIN K (CAMEROON) HBB - ALA129GLU OR ALA129ASP 46 47 GLY GLU HEMOGLOBIN K (IBADAN) HBB - GLY46GLU 132 133 LYS GLN HEMOGLOBIN K (WOOLWICH) HBB - LYS132GLN 30 31 ARG THR HEMOGLOBIN KAIROUAN HEMOGLOBIN MONROE HBB - ARG30THR 102 103 ASN THR HEMOGLOBIN KANSAS HEMOGLOBIN REISSMANN ET AL. HBB - ASN102THR 99 100 ASP ASN HEMOGLOBIN KEMPSEY HBB - ASP99ASN 69 70 GLY ARG HEMOGLOBIN KENITRA HBB - GLY69ARG 124 125 PRO ARG HEMOGLOBIN KHARTOUM HBB - PRO124ARG 27 28 ALA SER HEMOGLOBIN KNOSSOS BETA-PLUS-THALASSEMIA;; BETA-KNOSSOS-THALASSEMIA HBB - ALA27SER 84 85 THR ILE HEMOGLOBIN KOFU HBB - THR84ILE 98 99 VAL MET HEMOGLOBIN KOLN HEMOGLOBIN UBE-1;; HEMOGLOBIN SAN FRANCISCO (PACIFIC);; HEINZ BODY HEMOLYTIC ANEMIA HBB - VAL98MET 73 74 ASP ASN HEMOGLOBIN KORLE-BU HBB - ASP73ASN 129 130 ALA VAL HEMOGLOBIN LA DESIRADE HBB - ALA129VAL 49 50 SER PHE HEMOGLOBIN LAS PALMAS HBB - SER49PHE 36 37 PRO THR HEMOGLOBIN LINKOPING HEMOGLOBIN MEILAHTI HBB - PRO36THR 143 144 HIS GLN HEMOGLOBIN LITTLE ROCK HBB - HIS143GLN 42 43 PHE LEU HEMOGLOBIN LOUISVILLE HEMOGLOBIN BUCURESTI HBB - PHE42LEU 29 30 GLY ASP HEMOGLOBIN LUFKIN HBB - GLY29ASP 67 68 VAL GLU HEMOGLOBIN M (MILWAUKEE 1) HBB - VAL67GLU 92 93 HIS TYR HEMOGLOBIN M (MILWAUKEE 2) HEMOGLOBIN M (HYDE PARK);; HEMOGLOBIN M (AKITA) HBB - HIS92TYR 63 64 HIS TYR HEMOGLOBIN M (SASKATOON) HEMOGLOBIN M (ARHUS);; HEMOGLOBIN M (CHICAGO);; HEMOGLOBIN M (EMORY);; HEMOGLOBIN M (ERLANGEN);; HEMOGLOBIN M (HAMBURG);; HEMOGLOBIN M (HIDA);; HEMOGLOBIN M (HORLEIN-WEBER);; HEMOGLOBIN M (KURUME);; HEMOGLOBIN M (LEIPZIG);; HEMOGLOBIN M (NOVI SAD);; HEMOGLOBIN M (RADOM) HBB - HIS63TYR 6 7 GLU GLN HEMOGLOBIN MACHIDA HBB - GLU6GLN 115 116 ALA PRO HEMOGLOBIN MADRID HBB - ALA115PRO 19 20 ASN SER HEMOGLOBIN MALAY BETA-PLUS-THALASSEMIA;; BETA-MALAY-THALASSEMIA HBB - ASN19SER 97 98 HIS GLN HEMOGLOBIN MALMO HBB - HIS97GLN 47 48 ASP TYR HEMOGLOBIN MAPUTO HBB - ASP47TYR 2 3 HIS PRO HEMOGLOBIN MARSEILLE HEMOGLOBIN LONG ISLAND HBB - NH2 EXTENSION - HIS2PRO 114 115 LEU MET HEMOGLOBIN MASUDA HBB - LEU114MET AND GLY119ASP 119 120 GLY ASP HEMOGLOBIN MASUDA HBB - LEU114MET AND GLY119ASP 55 56 MET LYS HEMOGLOBIN MATERA HBB - MET55LYS 41 42 PHE TYR HEMOGLOBIN MEQUON HBB - PHE41TYR 118 119 PHE TYR HEMOGLOBIN MINNEAPOLIS-LAOS HBB - PHE118TYR 44 45 SER CYS HEMOGLOBIN MISSISSIPPI HEMOGLOBIN MS HBB - SER44CYS 144 145 LYS GLU HEMOGLOBIN MITO HBB - LYS144GLU 23 24 VAL GLY HEMOGLOBIN MIYASHIRO HBB - VAL23GLY 68 69 LEU PRO HEMOGLOBIN MIZUHO HBB - LEU68PRO 83 83 PHE SER HEMOGLOBIN MIZUNAMI HBB - PHE83SER 73 74 ASP VAL HEMOGLOBIN MOBILE HBB - ASP73VAL 97 98 HIS TYR HEMOGLOBIN MORIGUCHI HBB - HIS97TYR 24 25 GLY ASP HEMOGLOBIN MOSCVA HBB - GLY24ASP 92 93 HIS ARG HEMOGLOBIN MOZHAISK HBB - HIS92ARG 95 96 LYS ASP HEMOGLOBIN N - BETA TYPE HBB - LYS95ASP 95 96 LYS GLU HEMOGLOBIN N (BALTIMORE) HEMOGLOBIN N (JENKINS);; HEMOGLOBIN JENKINS;; HEMOGLOBIN HOPKINS 1;; HEMOGLOBIN KENWOOD HBB - LYS95GLU 61 62 LYS GLU HEMOGLOBIN N (SEATTLE) HBB - LYS61GLU 8 9 LYS GLU HEMOGLOBIN N (TIMONE) HBB - LYS8GLU 17 18 LYS GLU HEMOGLOBIN NAGASAKI HBB - LYS17GLU 97 98 HIS PRO HEMOGLOBIN NAGOYA HBB - HIS97PRO 130 131 TYR SER HEMOGLOBIN NEVERS HBB - TYR130SER 100 101 PRO ARG HEMOGLOBIN NEW MEXICO HBB - PRO100ARG 113 114 VAL GLU HEMOGLOBIN NEW YORK HEMOGLOBIN KAOHSIUNG HBB - VAL113GLU 92 93 HIS PRO HEMOGLOBIN NEWCASTLE HBB - HIS92PRO 36 37 PRO SER HEMOGLOBIN NORTH CHICAGO HBB - PRO36SER 134 135 VAL GLU HEMOGLOBIN NORTH SHORE HEMOGLOBIN NORTH SHORE-CARACAS HBB - VAL134GLU 98 99 VAL GLY HEMOGLOBIN NOTTINGHAM HBB - VAL98GLY 121 122 GLU LYS HEMOGLOBIN O (ARAB) HEMOGLOBIN EGYPT HBB - GLU121LYS 52 53 ASP ALA HEMOGLOBIN OCHO RIOS HBB - ASP52ALA 142 143 ALA ASP HEMOGLOBIN OHIO HBB - ALA142ASP 48 49 LEU ARG HEMOGLOBIN OKALOOSA HBB - LEU48ARG 2 3 HIS GLN HEMOGLOBIN OKAYAMA HBB - HIS2GLN 93 94 CYS ARG HEMOGLOBIN OKAZAKI HBB - CYS93ARG 141 142 LEU ARG HEMOGLOBIN OLMSTED HBB - LEU141ARG 86 87 ALA ASP HEMOGLOBIN OLOMOUC HBB - ALA86ASP 20 21 VAL MET HEMOGLOBIN OLYMPIA HBB - VAL20MET 145 146 TYR ASN HEMOGLOBIN OSLER HEMOGLOBIN NANCY;; HEMOGLOBIN FORT GORDON HBB - TYR145ASN-TO-ASP 52 53 ASP ASN HEMOGLOBIN OSU CHRISTIANSBORG HBB - ASP52ASN 117 118 HIS ARG HEMOGLOBIN P HEMOGLOBIN P (GALVESTON) HBB - HIS117ARG 23 24 VAL PHE HEMOGLOBIN PALMERSTON NORTH HBB - VAL23PHE 75 76 LEU ARG HEMOGLOBIN PASADENA HBB - LEU75ARG 32 33 LEU PRO HEMOGLOBIN PERTH HEMOGLOBIN ABRAHAM LINCOLN;; HEMOGLOBIN KOBE HBB - LEU32PRO 111 112 VAL PHE HEMOGLOBIN PETERBOROUGH HBB - VAL111PHE 35 36 TYR PHE HEMOGLOBIN PHILLY HBB - TYR35PHE 90 91 GLU ASP HEMOGLOBIN PIERRE-BENITE HBB - GLU90ASP 34 35 VAL PHE HEMOGLOBIN PITIE-SALPETRIERE HBB - VAL34PHE 86 87 ALA PRO HEMOGLOBIN POISSY HBB - GLY56ARG AND ALA86PRO 56 57 GLY ARG HEMOGLOBIN POISSY HBB - GLY56ARG AND ALA86PRO 9 10 SER CYS HEMOGLOBIN PORTO ALEGRE HBB - SER9CYS 101 102 GLU ASP HEMOGLOBIN POTOMAC HBB - GLU101ASP 108 109 ASN LYS HEMOGLOBIN PRESBYTERIAN HBB - ASN108LYS 83 84 GLY ASP HEMOGLOBIN PYRGOS HBB - GLY83ASP 78 79 LEU ARG HEMOGLOBIN QUIN-HAI HBB - LEU78ARG 99 100 ASP ALA HEMOGLOBIN RADCLIFFE HBB - ASP99ALA 82 83 LYS THR HEMOGLOBIN RAHERE HBB - LYS82THR 145 146 TYR CYS HEMOGLOBIN RAINIER HBB - TYR145CYS 1 2 VAL ALA HEMOGLOBIN RALEIGH HBB - VAL1ALA 15 16 TRP GLY HEMOGLOBIN RANDWICK HBB - TRP15GLY 96 97 LEU VAL HEMOGLOBIN REGINA HBB - LEU96VAL 102 103 ASN LYS HEMOGLOBIN RICHMOND HBB - ASN102LYS 8 9 LYS THR HEMOGLOBIN RIO GRANDE HBB - LYS8THR 24 25 GLY ARG HEMOGLOBIN RIVERDALE-BRONX HBB - GLY24ARG 120 121 LYS ASN HEMOGLOBIN RIYADH HEMOGLOBIN KARATSU HBB - LYS120ASN 90 91 GLU GLY HEMOGLOBIN ROSEAU-POINTE A PITRE HBB - GLU90GLY 37 38 TRP ARG HEMOGLOBIN ROTHSCHILD HBB - TRP37ARG 101 102 GLU GLN HEMOGLOBIN RUSH HBB - GLU101GLN 6 7 GLU VAL HEMOGLOBIN S SICKLE CELL ANEMIA - INCLUDED;; MALARIA - RESISTANCE TO - INCLUDED HBB - GLU6VAL 6 7 GLU VAL HEMOGLOBIN S (ANTILLES) HBB - GLU6VAL AND VAL23ILE 23 24 VAL ILE HEMOGLOBIN S (ANTILLES) HBB - GLU6VAL AND VAL23ILE 6 7 GLU VAL HEMOGLOBIN S (OMAN) HEMOGLOBIN S/O (ARAB) HBB - GLU6VAL AND GLU121LYS 121 122 GLU LYS HEMOGLOBIN S (OMAN) HEMOGLOBIN S/O (ARAB) HBB - GLU6VAL AND GLU121LYS 6 7 GLU VAL HEMOGLOBIN S (PROVIDENCE) HBB - GLU6VAL AND LYS82ASX 142 143 ALA VAL HEMOGLOBIN S (TRAVIS) HBB - GLU6VAL AND ALA142VAL 6 7 GLU VAL HEMOGLOBIN S (TRAVIS) HBB - GLU6VAL AND ALA142VAL 91 92 LEU PRO HEMOGLOBIN SABINE HBB - LEU91PRO 140 141 ALA THR HEMOGLOBIN SAINT JACQUES HBB - ALA140THR 117 118 HIS PRO HEMOGLOBIN SAITAMA HBB - HIS117PRO 14 15 LEU PRO HEMOGLOBIN SAKI HBB - LEU14PRO 109 110 VAL MET HEMOGLOBIN SAN DIEGO HBB - VAL109MET 88 89 LEU PRO HEMOGLOBIN SANTA ANA HBB - LEU88PRO 24 25 GLY VAL HEMOGLOBIN SAVANNAH HBB - GLY24VAL 143 144 HIS PRO HEMOGLOBIN SAVERNE HBB - 1-BP DEL - HIS143PRO - FS 70 71 ALA ASP HEMOGLOBIN SEATTLE HBB - ALA70ASP 42 43 PHE VAL HEMOGLOBIN SENDAGI HEMOGLOBIN WARSAW HBB - PHE42VAL 131 132 GLN PRO HEMOGLOBIN SHANGHAI HBB - GLN131PRO 131 132 GLN LYS HEMOGLOBIN SHELBY HEMOGLOBIN LESLIE;; HEMOGLOBIN DEACONESS HBB - GLN131LYS 74 75 GLY ASP HEMOGLOBIN SHEPHERDS BUSH HBB - GLY74ASP 104 105 ARG THR HEMOGLOBIN SHERWOOD FOREST HBB - ARG104THR 110 111 LEU PRO HEMOGLOBIN SHOWA-YAKUSHIJI BETA-PLUS-THALASSEMIA;; BETA-SHOWA-YAKUSHIJI THALASSEMIA HBB - LEU110PRO 7 8 GLU LYS HEMOGLOBIN SIRIRAJ HEMOGLOBIN G (HONAN) HBB - GLU7LYS 14 15 LEU ARG HEMOGLOBIN SOGN HBB - LEU14ARG 106 107 LEU PRO HEMOGLOBIN SOUTHAMPTON HEMOGLOBIN CASPER HBB - LEU106PRO 1 2 VAL MET HEMOGLOBIN SOUTH FLORIDA HBB - NH2 EXTENSION - VAL1MET - METi RETAINED 28 29 LEU GLN HEMOGLOBIN ST. LOUIS HEINZ BODY HEMOLYTIC ANEMIA HBB - LEU28GLN 102 103 ASN TYR HEMOGLOBIN ST. MANDE HBB - ASN102TYR 111 112 VAL ALA HEMOGLOBIN STANMORE HBB - VAL111ALA 23 24 VAL ASP HEMOGLOBIN STRASBOURG HBB - VAL23ASP 52 53 ASP HIS HEMOGLOBIN SUMMER HILL HBB - ASP52HIS 36 37 PRO ARG HEMOGLOBIN SUNNYBROOK HBB - PRO36ARG 67 68 VAL ALA HEMOGLOBIN SYDNEY HBB - VAL67ALA 143 144 HIS PRO HEMOGLOBIN SYRACUSE HBB - HIS143PRO 26 27 GLU LYS HEMOGLOBIN T (CAMBODIA) HBB - GLU26LYS AND GLU121GLN 121 122 GLU GLN HEMOGLOBIN T (CAMBODIA) HBB - GLU26LYS AND GLU121GLN 83 84 GLY CYS HEMOGLOBIN TA-LI HBB - GLY83CYS 30 31 ARG SER HEMOGLOBIN TACOMA HEINZ BODY HEMOLYTIC ANEMIA HBB - ARG30SER 120 121 LYS GLN HEMOGLOBIN TAKAMATSU HBB - LYS120GLN 79 80 ASP TYR HEMOGLOBIN TAMPA HBB - ASP79TYR 39 40 GLN ARG HEMOGLOBIN TIANSHUI HBB - GLN39ARG 73 74 ASP GLY HEMOGLOBIN TILBURG HBB - ASP73GLY 142 143 ALA PRO HEMOGLOBIN TOYOAKE HBB - ALA142PRO 106 107 LEU GLN HEMOGLOBIN TUBINGEN HBB - LEU106GLN 124 125 PRO SER HEMOGLOBIN TUNIS HBB - PRO124SER 124 125 PRO GLN HEMOGLOBIN TY GARD HBB - PRO124GLN 39 40 GLN GLU HEMOGLOBIN VAASA HBB - GLN39GLU 73 74 ASP TYR HEMOGLOBIN VANCOUVER HBB - ASP73TYR 89 90 SER ARG HEMOGLOBIN VANDERBILT HBB - SER89ARG 123 124 THR ILE HEMOGLOBIN VILLEJUIF HBB - THR123ILE 27 28 ALA ASP HEMOGLOBIN VOLGA HEMOGLOBIN DRENTHE HBB - ALA27ASP 5 6 PRO ARG HEMOGLOBIN WARWICKSHIRE HBB - PRO5ARG 130 131 TYR ASP HEMOGLOBIN WIEN HBB - TYR130ASP 51 52 PRO ARG HEMOGLOBIN WILLAMETTE HBB - PRO51ARG 11 12 VAL ASP HEMOGLOBIN WINDSOR HBB - VAL11ASP 97 98 HIS LEU HEMOGLOBIN WOOD HBB - HIS97LEU 99 100 ASP HIS HEMOGLOBIN YAKIMA HBB - ASP99HIS 132 133 LYS ASN HEMOGLOBIN YAMAGATA HBB - LYS132ASN 60 61 VAL LEU HEMOGLOBIN YATSUSHIRO HBB - VAL60LEU 31 32 LEU PRO HEMOGLOBIN YOKOHAMA HBB - LEU31PRO 146 147 HIS PRO HEMOGLOBIN YORK HBB - HIS146PRO 108 109 ASN ASP HEMOGLOBIN YOSHIZUKA HBB - ASN108ASP 99 100 ASP TYR HEMOGLOBIN YPSILANTI HBB - ASP99TYR 58 59 PRO ARG HEMOGLOBIN YUKUHASHI HEMOGLOBIN DHOFAR HBB - PRO58ARG 21 22 ASP TYR HEMOGLOBIN YUSA HBB - ASP21TYR 63 64 HIS ARG HEMOGLOBIN ZURICH HBB - HIS63ARG 127 128 GLN PRO HEMOGLOBIN HOUSTON BETA-PLUS-THALASSEMIA;; BETA-HOUSTON-THALASSEMIA HBB - GLN127PRO 127 128 GLN PRO BETA-PLUS-THALASSEMIA HBB - GLN127PRO AND ALA128DEL 60 61 VAL GLU BETA-PLUS-THALASSEMIA HEMOGLOBIN CAGLIARI HBB - VAL60GLU 1 1 MET ARG BETA-ZERO-THALASSEMIA HBB - MET1ARG 1 1 MET THR BETA-ZERO-THALASSEMIA BETA-THALASSEMIA - LERMONTOV TYPE HBB - MET1THR 24 25 GLY GLY BETA-PLUS-THALASSEMIA HBB - GGT24GGA AND GLY24GLY 105 106 LEU PHE HEMOGLOBIN SOUTH MILWAUKEE HBB - LEU105PHE 126 127 VAL GLY HEMOGLOBIN DHONBURI HEMOGLOBIN NEAPOLIS HBB - VAL126GLY 119 120 GLY ALA HEMOGLOBIN IOWA HBB - GLY119ALA 76 77 ALA PRO HEMOGLOBIN CALAIS HBB - ALA76PRO 114 115 LEU MET HEMOGLOBIN ZENGCHENG HBB - LEU114MET 106 107 LEU ARG HEMOGLOBIN TERRE HAUTE BETA-PLUS-THALASSEMIA HBB - LEU106ARG 87 88 THR PRO HEMOGLOBIN VALLETTA HBB - THR87PRO 54 55 VAL ASP HEMOGLOBIN JACKSONVILLE HBB - VAL54ASP 28 29 LEU ARG HEMOGLOBIN CHESTERFIELD HBB - LEU28ARG 87 88 THR ILE HEMOGLOBIN QUEBEC-CHORI HEMOGLOBIN CHORI HBB - THR87ILE 92 93 HIS ASN HEMOGLOBIN REDONDO HEMOGLOBIN ISEHARA HBB - HIS92ASN-TO-ASP 99 100 ASP GLU HEMOGLOBIN COIMBRA HBB - ASP99GLU 121 122 GLU GLN HEMOGLOBIN CLEVELAND HBB - CYS93ARG AND GLU121GLN 93 94 CYS ARG HEMOGLOBIN CLEVELAND HBB - CYS93ARG AND GLU121GLN 51 52 PRO SER HEMOGLOBIN GRENOBLE HBB - PRO51SER AND ASP52ASN 52 53 ASP ASN HEMOGLOBIN GRENOBLE HBB - PRO51SER AND ASP52ASN 146 147 HIS GLN HEMOGLOBIN KODAIRA HBB - HIS146GLN 17 18 LYS GLN HEMOGLOBIN NIKOSIA HBB - LYS17GLN 121 122 GLU GLY HEMOGLOBIN ST. FRANCIS HBB - GLU121GLY 112 113 CYS TYR HEMOGLOBIN YAHATA HBB - CYS112TYR 143 144 HIS ASP HEMOGLOBIN RANCHO MIRAGE HBB - HIS143ASP 32 33 LEU VAL HEMOGLOBIN MUSCAT HBB - LEU32VAL 48 49 LEU PRO HEMOGLOBIN BAB-SAADOUN HBB - LEU48PRO 114 115 LEU PRO BETA-THALASSEMIA INTERMEDIA HEMOGLOBIN BRESCIA;; HEMOGLOBIN DURHAM-N.C. HBB - LEU114PRO 92 93 HIS PRO HEMOGLOBIN DUINO HBB - HIS92PRO AND ARG104SER 104 105 ARG SER HEMOGLOBIN DUINO HBB - HIS92PRO AND ARG104SER 18 19 VAL MET HEMOGLOBIN BADEN HBB - VAL18MET 2 3 HIS LEU HEMOGLOBIN GRAZ HBB - HIS2LEU 1 1 MET ILE BETA-ZERO-THALASSEMIA HBB - MET1ILE 21 22 ASP HIS HEMOGLOBIN KARLSKOGA HBB - ASP21HIS 83 84 GLY ARG HEMOGLOBIN MUSKEGON HBB - GLY83ARG 79 80 ASP HIS HEMOGLOBIN TIGRAYE HBB - ASP79HIS 131 132 GLN ARG HEMOGLOBIN SARREBOURG HBB - GLN131ARG 103 104 PHE ILE HEMOGLOBIN SAINT NAZAIRE HBB - PHE103ILE 115 116 ALA ASP HEMOGLOBIN HRADEC KRALOVE HEMOGLOBIN HK HBB - ALA115ASP 67 68 VAL GLY HEMOGLOBIN MANUKAU HBB - VAL67GLY 89 90 SER THR HEMOGLOBIN VILLAVERDE HBB - SER89THR 37 38 TRP GLY HEMOGLOBIN HOWICK HBB - TRP37GLY 41 42 PHE SER HEMOGLOBIN DENVER HBB - PHE41SER 135 136 ALA GLU HEMOGLOBIN BECKMAN HBB - ALA135GLU 32 33 LEU GLN HEMOGLOBIN MEDICINE LAKE HBB - LEU32GLN 121 122 GLU ALA HEMOGLOBIN D (NEATH) HBB - GLU121ALA 11 12 VAL PHE HEMOGLOBIN WASHTENAW HBB - VAL11PHE 67 68 VAL MET HEMOGLOBIN ALESHA HBB - VAL67MET 127 128 GLN ARG HEMOGLOBIN DIEPPE HBB - GLN127ARG 20 21 VAL GLU HEMOGLOBIN TROLLHAETTAN HBB - VAL20GLU 5 6 PRO SER HEMOGLOBIN TYNE HBB - PRO5SER 98 99 VAL MET HEMOGLOBIN MEDICINE LAKE HBB - VAL98MET AND LEU32GLN 32 33 LEU GLN HEMOGLOBIN MEDICINE LAKE HBB - VAL98MET AND LEU32GLN 79 80 ASP ASN HEMOGLOBIN YAIZU HBB - ASP79ASN 31 32 LEU ARG HEMOGLOBIN HAKKARI HBB - LEU31ARG 140 141 ALA VAL HEMOGLOBIN PUTTELANGE HBB - ALA140VAL 45 46 PHE CYS HEMOGLOBIN ARTA HBB - PHE45CYS 139 140 ASN TYR HEMOGLOBIN AURORA HBB - ASN139TYR 8 9 LYS MET HEMOGLOBIN NAKANO HBB - LYS8MET 38 39 THR ASN HEMOGLOBIN HINWIL HBB - THR38ASN 96 97 LEU PRO HEMOGLOBIN DEBROUSSE HBB - LEU96PRO 82 83 LYS GLN HEMOGLOBIN TSURUMAI HBB - LYS82GLN 62 63 ALA ASP HEMOGLOBIN J (EUROPA) HBB - ALA62ASP 26 27 GLU GLY HB AUBENAS HBB - GLU26GLY 104 105 ARG SER HB CAMPERDOWN HBB - ARG104SER 77 78 HIS ARG HEMOGLOBIN COSTA RICA HBB - HIS77ARG 1 2 VAL LEU HB NIIGATA HBB - VAL1LEU 82 83 LYS GLU HB GAMBARA HBB - LYS82GLU 131 132 GLN HIS HEMOGLOBIN SILVER SPRINGS HBB - GLN131HIS 143 144 HIS TYR HEMOGLOBIN BURTON-UPON-TRENT HEMOGLOBIN OLD DOMINION HBB - HIS143TYR 34 35 VAL MET HEMOGLOBIN RIO CLARO HBB - VAL34MET 28 29 LEU MET HEMOGLOBIN CHILE HBB - LEU28MET 124 125 PRO LEU HEMOGLOBIN TENDE HBB - PRO124LEU 81 82 LEU HIS HEMOGLOBIN LA ROCHE-SUR-YON HBB - LEU81HIS 10 11 ALA VAL HEMOGLOBIN IRAQ-HALABJA HBB - ALA10VAL 8 9 LYS ARG HEMOGLOBIN LUCKNOW HBB - LYS8ARG 139 140 ASN THR HEMOGLOBIN SAGAMI HBB - ASN139THR 118 119 PHE CYS HEMOGLOBIN HARROW HBB - PHE118CYS 36 37 PRO ALA HEMOGLOBIN BRIE COMTE ROBERT HBB - PRO36ALA 144 145 LYS MET HEMOGLOBIN BARBIZON HBB - LYS144MET 146 147 HIS TYR HEMOGLOBIN BOLOGNA-ST. ORSOLA HBB - HIS146TYR 36 37 PRO HIS HEMOGLOBIN VILA REAL HBB - PRO36HIS 84 85 THR ALA HEMOGLOBIN SAALE HBB - THR84ALA 122 123 PHE LEU HEMOGLOBIN BUSHEY HBB - PHE122LEU 65 66 LYS MET HEMOGLOBIN CASABLANCA HBB - LYS65MET AND PHE122LEU 122 123 PHE LEU HEMOGLOBIN CASABLANCA HBB - LYS65MET AND PHE122LEU 117 118 HIS TYR HEMOGLOBIN TSUKUMI HBB - HIS117TYR 123 124 THR ASN HEMOGLOBIN ERNZ HBB - THR123ASN 133 134 VAL ALA HEMOGLOBIN RENERT HBB - VAL133ALA 1 2 VAL GLY HEMOGLOBIN WATFORD HBB - VAL1GLY 134 135 VAL ALA HEMOGLOBIN YAOUNDE HBB - VAL134ALA 128 129 ALA VAL HEMOGLOBIN SITIA HBB - ALA128VAL 128 129 ALA PRO HEMOGLOBIN MONT SAINT-AIGNAN HBB - ALA128PRO 136 137 GLY ARG HEMOGLOBIN 'T LANGE LAND HBB - GLY136ARG 121 122 GLU GLN HEMOGLOBIN D (AGRI) HBB - SER9TYR AND GLU121GLN 9 10 SER TYR HEMOGLOBIN D (AGRI) HBB - SER9TYR AND GLU121GLN 8 9 LYS ASN HEMOGLOBIN LIMASSOL HBB - LYS8ASN 112 113 CYS PHE HEMOGLOBIN CANTERBURY HBB - CYS112PHE 11 12 VAL ILE HEMOGLOBIN O (TIBESTI) HBB - GLU121LYS - VAL11ILE 121 122 GLU LYS HEMOGLOBIN O (TIBESTI) HBB - GLU121LYS - VAL11ILE 126 127 VAL LEU HEMOGLOBIN MOLFETTA HBB - VAL126LEU 146 147 HIS GLN HEMOGLOBIN KODAIRA II HBB - HIS146GLN 41 42 PHE CYS HEMOGLOBIN ILMENAU HBB - PHE41CYS 64 65 GLY ALA HEMOGLOBIN AUBAGNE HBB - GLY64ALA 49 50 SER CYS HEMOGLOBIN COLIMA HBB - SER49CYS 61 62 LYS GLN HEMOGLOBIN POCOS DE CALDAS HBB - LYS61GLN 34 35 VAL ASP HEMOGLOBIN SANTANDER HBB - VAL34ASP 138 139 ALA THR HEMOGLOBIN BUZEN HBB - ALA138THR 97 98 HIS ASN HEMOGLOBIN SANTA CLARA HBB - HIS97ASN 103 104 PHE VAL HEMOGLOBIN SPARTA HBB - PHE103VAL 90 91 GLU LYS HEMOGLOBIN S (CAMEROON) HBB - GLU6VAL AND GLU90LYS 6 7 GLU VAL HEMOGLOBIN S (CAMEROON) HBB - GLU6VAL AND GLU90LYS 86 87 ALA PRO HEMOGLOBIN CARDARELLI HBB - ALA86PRO 6 7 GLU VAL HEMOGLOBIN JAMAICA PLAIN HBB - GLU6VAL AND LEU68PHE 68 69 LEU PHE HEMOGLOBIN JAMAICA PLAIN HBB - GLU6VAL AND LEU68PHE 68 69 LEU PHE HEMOGLOBIN ROCKFORD HBB - LEU68PHE 26 27 GLU ALA HEMOGLOBIN TRIPOLI HBB - GLU26ALA 29 30 GLY SER HEMOGLOBIN TIZI-OUZOU HBB - GLY29SER 52 53 ASP GLY HEMOGLOBIN HOKUSETSU HBB - ASP52GLY 141 142 LEU VAL HEMOGLOBIN KOCHI HBB - LEU141VAL - LYS144TER 23 24 VAL ALA HEMOGLOBIN ZOETERWOUDE HBB - VAL23ALA 9 10 SER TYR HEMOGLOBIN BREM-SUR-MER HBB - SER9TYR 94 95 ASP TYR HEMOGLOBIN GELDROP ST. ANNA HBB - ASP94TYR 70 71 ALA VAL HEMOGLOBIN MARINEO HBB - ALA70VAL 38 39 THR ILE HEMOGLOBIN LA CORUNA HBB - THR38ILE 16 17 GLY ARG HEMOGLOBIN A(2)-PRIME HEMOGLOBIN B(2) HBD - GLY16ARG 51 52 PRO ARG HEMOGLOBIN A(2) ADRIA HBD - PRO51ARG 136 137 GLY ASP HEMOGLOBIN A(2) BABINGA HBD - GLY136ASP 99 100 ASP ASN HEMOGLOBIN A(2) CANADA HBD - ASP99ASN 116 117 ARG HIS HEMOGLOBIN A(2) COBURG HBD - ARG116HIS 142 143 ALA ASP HEMOGLOBIN A(2) FITZROY HBD - ALA142ASP 22 23 ALA GLU HEMOGLOBIN A(2) FLATBUSH HEMOGLOBIN FLATBUSH (GEORGIA) HBD - ALA22GLU 90 91 GLU VAL HEMOGLOBIN A(2) HONAI HBD - GLU90VAL 69 70 GLY ARG HEMOGLOBIN A(2) INDONESIA HBD - GLY69ARG 121 122 GLU VAL HEMOGLOBIN A(2) MANZANARES HBD - GLU121VAL 43 44 GLU LYS HEMOGLOBIN A(2) MELBOURNE HBD - GLU43LYS 12 13 ASN LYS HEMOGLOBIN A(2) NYU HEMOGLOBIN NYU HBD - ASN12LYS 20 21 VAL GLU HEMOGLOBIN A(2) ROOSEVELT HBD - VAL20GLU 2 3 HIS ARG HEMOGLOBIN A(2) SPHAKIA HBD - HIS2ARG 24 25 GLY ASP HEMOGLOBIN A(2) VICTORIA HBD - GLY24ASP 98 99 VAL MET HEMOGLOBIN A(2) WRENS HBD - VAL98MET 25 26 GLY ASP HEMOGLOBIN A(2) YOKOSHIMA HBD - GLY25ASP 125 126 GLN GLU HEMOGLOBIN A(2) ZAGREB HBD - GLN125GLU 116 117 ARG CYS HEMOGLOBIN A(2) CORFU HEMOGLOBIN A(2) TROODOS HBD - ARG116CYS 47 48 ASP VAL HEMOGLOBIN A(2) PARKVILLE HBD - ASP47VAL 1 2 VAL ALA HEMOGLOBIN A(2) NIIGATA HBD - VAL1ALA 27 28 ALA SER DELTA-THALASSEMIA HEMOGLOBIN A(2) YIALOUSA HBD - ALA27SER 30 31 ARG THR DELTA-THALASSEMIA HBD - ARG30THR 141 142 LEU PRO HEMOGLOBIN A(2) PELENDRI HBD - LEU141PRO 75 76 LEU VAL DELTA-THALASSEMIA HEMOGLOBIN A(2) GROVETOWN HBD - LEU75VAL 26 27 GLU ASP HEMOGLOBIN A(2) PUGLIA HBD - GLU26ASP 93 94 CYS GLY HEMOGLOBIN A(2) SANT' ANTIOCO HBD - CYS93GLY 43 44 GLU GLY HEMOGLOBIN A(2) AGRINIO HBD - GLU43GLY 146 147 HIS ARG HEMOGLOBIN A(2) MONREALE HBD - HIS146ARG 37 37 PRO HIS HEMOGLOBIN A(2) METAPONTO HBD - PRO37HIS 58 58 ASN LYS HEMOGLOBIN A(2) CAMPANIA HBD - ASN58LYS 89 89 LEU VAL HEMOGLOBIN A(2) LUCANIA HBD - LEU89VAL 105 105 ARG SER HEMOGLOBIN A(2) CAPRI HBD - ARG105SER 133 134 VAL ALA HEMOGLOBIN A(2) NINIVE HBD - VAL133ALA 75 76 ILE THR HBG1 POLYMORPHISM HBG1 - ILE75THR 128 129 ALA THR HEMOGLOBIN F (BASKENT) HBG1 - ALA128THR 53 54 ALA ASP HEMOGLOBIN F (BEECH ISLAND) HBG1 - ALA53ASP 39 40 GLN ARG HEMOGLOBIN F (BONAIRE) HBG1 - GLN39ARG 12 13 THR ARG HEMOGLOBIN F (CALLUNA) HBG1 - THR12ARG 37 38 TRP GLY HEMOGLOBIN F (COBB) HBG1 - TRP37GLY 79 80 ASP ASN HEMOGLOBIN F (DAMMAM) HBG1 - ASP79ASN 97 98 HIS ARG HEMOGLOBIN F (DICKINSON) HBG1 - HIS97ARG 73 74 ASP ASN HEMOGLOBIN F (FOREST PARK) HBG1 - ASP73ASN 43 44 ASP ASN HEMOGLOBIN F (FUKUYAMA) HBG1 - ASP43ASN 72 73 GLY ARG HEMOGLOBIN F (IWATA) HBG1 - GLY72ARG 6 7 GLU GLY HEMOGLOBIN F (IZUMI) HBG1 - GLU6GLY 61 62 LYS GLU HEMOGLOBIN F (JAMAICA) HBG1 - LYS61GLU 6 7 GLU GLY HEMOGLOBIN F (KOTOBUKI) HBG1 - GLU6GLY 22 23 ASP GLY HEMOGLOBIN F (KUALA LUMPUR) HBG1 - ASP22GLY 36 37 PRO ARG HEMOGLOBIN F (PENDERGRASS) HBG1 - PRO36ARG 6 7 GLU GLN HEMOGLOBIN F (PORDENONE) HBG1 - GLU6GLN 75 76 ILE THR HEMOGLOBIN F (SARDINIA) HBG1 - ILE75THR 121 122 GLU LYS HEMOGLOBIN F (SIENA) HEMOGLOBIN F (HULL) HBG1 - GLU121LYS 5 6 GLU LYS HEMOGLOBIN F (TEXAS I) HBG1 - GLU5LYS 80 81 ASP TYR HEMOGLOBIN F (VICTORIA JUBILEE) HBG1 - ASP80TYR 25 26 GLY ARG HEMOGLOBIN F (XINJIANG) HBG1 - GLY25ARG 73 74 ASP HIS HEMOGLOBIN F (XIN-SU) HBG1 - ASP73HIS 80 81 ASP ASN HEMOGLOBIN F (YAMAGUCHI) HBG1 - ASP80ASN 134 135 VAL MET HEMOGLOBIN F (JIANGSU) HBG1 - VAL134MET 136 137 ALA GLY HEMOGLOBIN F (CHARLOTTE) HBG1 - ILE75THR AND ALA136GLY 75 76 ILE THR HEMOGLOBIN F (CHARLOTTE) HBG1 - ILE75THR AND ALA136GLY 40 41 ARG LYS HEMOGLOBIN F (WOODSTOCK) HBG1 - ARG40LYS 2 3 HIS GLN HEMOGLOBIN F (MACEDONIA-I) HBG1 - HIS2GLN 136 137 ALA SER HEMOGLOBIN F (PORTO TORRES) HBG1 - ALA136SER - ILE75THR 75 76 ILE THR HEMOGLOBIN F (PORTO TORRES) HBG1 - ALA136SER - ILE75THR 7 8 ASP ASN HEMOGLOBIN F (AUCKLAND) HBG2 - ASP7ASN 120 121 LYS GLN HEMOGLOBIN F (CALTECH) HBG2 - LYS120GLN 121 122 GLU LYS HEMOGLOBIN F (CARLTON) HBG2 - GLU121LYS 65 66 LYS ASN HEMOGLOBIN F (CLARKE) HBG2 - LYS65ASN 94 95 ASP ASN HEMOGLOBIN F (COLUMBUS-GA) HBG2 - ASP94ASN 21 22 GLU GLN HEMOGLOBIN F (FUCHU) HBG2 - GLU21GLN 12 13 THR ARG HEMOGLOBIN F (HEATHER) HBG2 - THR12ARG 77 78 HIS ARG HEMOGLOBIN F (KENNESTONE) HBG2 - HIS77ARG 55 56 MET ARG HEMOGLOBIN F (KINGSTON) HBG2 - MET55ARG 101 102 GLU LYS HEMOGLOBIN F (LA GRANGE) HBG2 - GLU101LYS 44 45 SER ARG HEMOGLOBIN F (LODZ) HBG2 - SER44ARG 1 2 GLY CYS HEMOGLOBIN F (MALAYSIA) HBG2 - GLY1CYS 117 118 HIS ARG HEMOGLOBIN F (MALTA) HBG2 - HIS117ARG 80 81 ASP ASN HEMOGLOBIN F (MARIETTA) HBG2 - ASP80ASN 5 6 GLU GLY HEMOGLOBIN F (MEINOHAMA) HBG2 - GLU5GLY 16 17 GLY ARG HEMOGLOBIN F (MELBOURNE) HBG2 - GLY16ARG 72 73 GLY ARG HEMOGLOBIN F (MINOO) HBG2 - GLY72ARG 26 27 GLU LYS HEMOGLOBIN F (OAKLAND) HBG2 - GLU26LYS 130 131 TRP GLY HEMOGLOBIN F (POOLE) HBG2 - TRP130GLY 125 126 GLU ALA HEMOGLOBIN F (PORT ROYAL) HBG2 - GLU125ALA 66 67 LYS ARG HEMOGLOBIN F (SHANGHAI) HBG2 - LYS66ARG 34 35 VAL ILE HEMOGLOBIN F (TOKYO) HBG2 - VAL34ILE 22 23 ASP GLY HEMOGLOBIN F (URUMQI) HBG2 - ASP22GLY 63 64 HIS TYR HEMOGLOBIN FM-OSAKA HBG2 - HIS63TYR 22 23 ASP VAL HEMOGLOBIN F (GRANADA) HBG2 - ASP22VAL 40 41 ARG LYS HEMOGLOBIN F (AUSTELL) HBG2 - ARG40LYS 66 67 LYS GLN HEMOGLOBIN F (BROOKLYN) HBG2 - LYS66GLN 146 147 HIS TYR HEMOGLOBIN F (ONODA) HBG2 - HIS146TYR 92 93 HIS TYR HEMOGLOBIN FM (FORT RIPLEY) HBG2 - HIS92TYR 15 16 TRP ARG HEMOGLOBIN F (CATALONIA) HBG2 - TRP15ARG 25 26 GLY GLU HEMOGLOBIN F (COSENZA) HBG2 - GLY25GLU 59 60 LYS GLN HEMOGLOBIN F (SACROMONTE) HBG2 - LYS59GLN 75 76 ILE THR HEMOGLOBIN F (WAYNESBORO) HBG2 - ILE75THR 104 105 LYS ASN HEMOGLOBIN F (MACEDONIA II) HBG2 - LYS104ASN 41 42 PHE SER HEMOGLOBIN F (CINCINNATI) HBG2 - PHE41SER 59 60 LYS GLU HEMOGLOBIN F (EMIRATES) HBG2 - LYS59GLU 59 60 LYS GLN HEMOGLOBIN F (SACROMONTE) HBG2 - LYS59GLN 40 41 ARG GLY HEMOGLOBIN F (VELETA) HBG2 - ARG40GLY 75 76 ILE THR HEMOGLOBIN F (LESVOS) HBG2 - ILE75THR 118 119 PHE LEU HEMOGLOBIN F (CALABRIA) HBG2 - PHE118LEU 17 18 LYS ASN HEMOGLOBIN F (CLAMART) HBG2 - LYS17ASN 19 20 ASN LYS HEMOGLOBIN F (OULED RABAH) HBG2 - ASN19LYS 189 208 ARG HIS HEPARIN COFACTOR II DEFICIENCY HCF2 - ARG189HIS 443 462 PRO LEU THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO HEPARIN COFACTOR II DEFICIENCY HCF2 - PRO443LEU 165 165 SER SER DEAFNESS - AUTOSOMAL RECESSIVE 39 HGF - SER165SER 447 447 PRO LEU MATURITY-ONSET DIABETES OF THE YOUNG - TYPE 3 HNF1A - PRO447LEU 122 122 TYR CYS MATURITY-ONSET DIABETES OF THE YOUNG - TYPE 3 HNF1A - TYR122CYS 272 272 ARG HIS DIABETES MELLITUS - INSULIN-DEPENDENT - 20 HNF1A - ARG272HIS 583 583 ARG GLY DIABETES MELLITUS - INSULIN-DEPENDENT - 20 HNF1A - ARG583GLY 319 319 GLY SER DIABETES MELLITUS - TYPE II - SUSCEPTIBILITY TO HNF1A - GLY319SER 620 620 THR ILE MATURITY-ONSET DIABETES OF THE YOUNG - TYPE 3 HNF1A - THR620ILE 27 27 ILE LEU INSULIN RESISTANCE - SUSCEPTIBILITY TO SERUM HDL CHOLESTEROL LEVEL - MODIFIER OF - INCLUDED HNF1A - ILE27LEU 574 574 GLY SER HEPATIC ADENOMA HNF1A - GLY574SER 583 583 ARG GLN HEPATIC ADENOMA HNF1A - ARG583GLN 112 112 PRO LEU MATURITY-ONSET DIABETES OF THE YOUNG - TYPE 3 HNF1A - PRO112LEU 131 131 ARG TRP MATURITY-ONSET DIABETES OF THE YOUNG - TYPE 3 HNF1A - ARG131TRP 276 276 ALA ASP MATURITY-ONSET DIABETES OF THE YOUNG - TYPE 3 HNF1A - ALA276ASP 531 531 SER THR MATURITY-ONSET DIABETES OF THE YOUNG - TYPE 3 HNF1A - SER531THR 92 92 GLY ASP MATURITY-ONSET DIABETES OF THE YOUNG - TYPE 3 RENAL CELL CARCINOMA - CLEAR CELL - INCLUDED;; RENAL CELL CARCINOMA - CHROMOPHOBE - INCLUDED HNF1A - GLY92ASP 1532 1532 CYS TYR SCHWARTZ-JAMPEL SYNDROME - TYPE 1 HSPG2 - CYS1532TYR 529 529 LEU SER HEMOLYTIC ANEMIA - NONSPHEROCYTIC - DUE TO HEXOKINASE DEFICIENCY HK1 - LEU529SER 85 85 GLY GLU THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY HRG - GLY85GLU 22 22 ARG GLN HIS2*1/HIS2*2 POLYMORPHISM HTN3 - TYR28TER AND ARG22GLN 69 69 LYS GLU BERYLLIUM DISEASE - CHRONIC - SUSCEPTIBILITY TO HLA-DPB1 - LYS69GLU 51 372 ASN HIS HAND-FOOT-GENITAL SYNDROME HOXA13 - ASN51HIS 50 371 GLN LEU GUTTMACHER SYNDROME HOXA13 - GLN50LEU - 2-BP DEL - -79GC 81 81 GLU VAL LEUKEMIA - ACUTE LYMPHOBLASTIC - SUSCEPTIBILITY TO HOXD4 - GLU81VAL 31 31 ARG PRO TOOTH AGENESIS - SELECTIVE - 1 MSX1 - ARG31PRO 78 78 GLU VAL OROFACIAL CLEFT 5 MSX1 - GLU78VAL 116 116 GLY GLU OROFACIAL CLEFT 5 MSX1 - GLY116GLU 147 147 PRO GLN OROFACIAL CLEFT 5 MSX1 - PRO147GLN 6 6 MET LYS TOOTH AGENESIS - SELECTIVE - 1 MSX1 - MET6LYS 319 319 MET LYS VERTICAL TALUS - CONGENITAL CHARCOT-MARIE-TOOTH DISEASE - FOOT DEFORMITY OF - INCLUDED HOXD10 - MET319LYS 314 322 ILE LEU BRACHYDACTYLY - TYPE E BRACHYDACTYLY - TYPE D - INCLUDED HOXD13 - ILE314LEU 308 316 SER CYS BRACHYDACTYLY - TYPE E BRACHYDACTYLY - TYPE D - INCLUDED HOXD13 - SER308CYS 298 306 ARG TRP SYNPOLYDACTYLY 1 HOXD13 - ARG298TRP 317 325 GLN ARG SYNDACTYLY - TYPE V HOXD13 - GLN317ARG 220 228 GLY VAL SYNPOLYDACTYLY 1 HOXD13 - GLY220VAL 200 200 ARG GLN MICROPHTHALMIA - CATARACTS - AND IRIS ABNORMALITIES CHX10 - ARG200GLN 200 200 ARG PRO MICROPHTHALMIA - CATARACTS - AND IRIS ABNORMALITIES MICROPHTHALMIA - ISOLATED 2 - INCLUDED CHX10 - ARG200PRO 227 227 ARG TRP MICROPHTHALMIA - ISOLATED 2 CHX10 - ARG227TRP 248 249 THR SER CURRARINO SYNDROME MNX1 - THR248SER 263 263 ASP GLY TRIFUNCTIONAL PROTEIN DEFICIENCY HADHB - ASP263GLY 61 61 ARG HIS TRIFUNCTIONAL PROTEIN DEFICIENCY HADHB - ARG61HIS 247 247 ARG HIS TRIFUNCTIONAL PROTEIN DEFICIENCY HADHB - ARG247HIS 411 411 ARG LYS TRIFUNCTIONAL PROTEIN DEFICIENCY HADHB - ARG411LYS 422 422 VAL GLY TRIFUNCTIONAL PROTEIN DEFICIENCY HADHB - VAL422GLY 66 66 THR ILE SEVERE COMBINED IMMUNODEFICIENCY - AUTOSOMAL RECESSIVE - T CELL-NEGATIVE - B CELL-POSITIVE - NK CELL-POSITIVE IL7R - THR66ILE 138 138 ILE VAL SEVERE COMBINED IMMUNODEFICIENCY - AUTOSOMAL RECESSIVE - T CELL-NEGATIVE - B CELL-POSITIVE - NK CELL-POSITIVE IL7R - ILE138VAL 132 132 PRO SER SEVERE COMBINED IMMUNODEFICIENCY - AUTOSOMAL RECESSIVE - T CELL-NEGATIVE - B CELL-POSITIVE - NK CELL-POSITIVE IL7R - PRO132SER 226 226 ASP ASN RETINITIS PIGMENTOSA 10 IMPDH1 - ASP226ASN 268 268 VAL ILE RETINITIS PIGMENTOSA 10 IMPDH1 - VAL268ILE 224 224 ARG PRO RETINITIS PIGMENTOSA 10 IMPDH1 - ARG224PRO 105 105 ARG TRP LEBER CONGENITAL AMAUROSIS 11 IMPDH1 - ARG105TRP 198 198 ASN LYS LEBER CONGENITAL AMAUROSIS 11 IMPDH1 - ASN198LYS 263 263 LEU PHE IMPDH2 ENZYME ACTIVITY - VARIATION IN IMPDH2 - LEU263PHE 86 86 ASN LYS CRYPTORCHIDISM INSL3 - ASN86LYS 93 93 PRO LEU CRYPTORCHIDISM INSL3 - PRO93LEU 102 102 ARG CYS CRYPTORCHIDISM INSL3 - ARG102CYS 102 102 ARG HIS CRYPTORCHIDISM INSL3 - ARG102HIS 36 36 ARG SER NEUTROPHIL-SPECIFIC ANTIGENS NA1/NA2 FCGR3A - ARG36SER - ASN65SER - ASP82ASN - VAL106ILE 82 82 ASP ASN NEUTROPHIL-SPECIFIC ANTIGENS NA1/NA2 FCGR3A - ARG36SER - ASN65SER - ASP82ASN - VAL106ILE 65 65 ASN SER NEUTROPHIL-SPECIFIC ANTIGENS NA1/NA2 FCGR3A - ARG36SER - ASN65SER - ASP82ASN - VAL106ILE 106 106 VAL ILE NEUTROPHIL-SPECIFIC ANTIGENS NA1/NA2 FCGR3A - ARG36SER - ASN65SER - ASP82ASN - VAL106ILE 48 48 LEU HIS VIRAL INFECTIONS - RECURRENT - SUSCEPTIBILITY TO FCGR3A - LEU48HIS 142 142 PRO LEU AGAMMAGLOBULINEMIA 2 IGLL1 - PRO142LEU 131 131 ARG HIS LUPUS NEPHRITIS - SUSCEPTIBILITY TO PSEUDOMONAS AERUGINOSA - SUSCEPTIBILITY TO CHRONIC INFECTION BY - IN CYSTIC FIBROSIS - INCLUDED FCGR2A - ARG131HIS 923 923 LEU PRO DYSCHROMATOSIS SYMMETRICA HEREDITARIA ADAR - LEU923PRO 1165 1165 PHE SER DYSCHROMATOSIS SYMMETRICA HEREDITARIA ADAR - PHE1165SER 141 141 GLY ARG INFLAMMATORY BOWEL DISEASE 28 IL10RA - GLY141ARG 84 84 THR ILE INFLAMMATORY BOWEL DISEASE 28 IL10RA - THR84ILE 412 413 CYS GLY AGAMMAGLOBULINEMIA 1 IGHM - CYS412GLY 237 237 GLU GLY ATOPIC ASTHMA - SUSCEPTIBILITY TO MS4A2 - GLU237GLY 137 137 GLY SER AGAMMAGLOBULINEMIA 6 CD79B - GLY137SER 1059 1059 PRO LEU SPINOCEREBELLAR ATAXIA 15 ITPR1 - PRO1059LEU 1449 1449 GLY VAL HEPATOCELLULAR CARCINOMA - SOMATIC IGF2R - GLY1449VAL 1464 1464 GLY GLU HEPATOCELLULAR CARCINOMA - SOMATIC IGF2R - GLY1464GLU 108 138 ARG GLN INSULIN-LIKE GROWTH FACTOR I - RESISTANCE TO IGF1R - ARG108GLN 115 145 LYS ASN INSULIN-LIKE GROWTH FACTOR I - RESISTANCE TO IGF1R - LYS115ASN 709 739 ARG GLN INSULIN-LIKE GROWTH FACTOR I - RESISTANCE TO IGF1R - ARG709GLN 481 511 ARG GLN INSULIN-LIKE GROWTH FACTOR I - RESISTANCE TO IGF1R - ARG481GLN 44 44 VAL MET INSULIN-LIKE GROWTH FACTOR I DEFICIENCY IGF1 - VAL44MET 37 38 GLY ARG AMYOTROPHIC LATERAL SCLEROSIS 1 SOD1 - GLY37ARG 38 39 LEU VAL AMYOTROPHIC LATERAL SCLEROSIS 1 SOD1 - LEU38VAL 41 42 GLY SER AMYOTROPHIC LATERAL SCLEROSIS 1 SOD1 - GLY41SER 41 42 GLY ASP AMYOTROPHIC LATERAL SCLEROSIS 1 SOD1 - GLY41ASP 43 44 HIS ARG AMYOTROPHIC LATERAL SCLEROSIS 1 SOD1 - HIS43ARG 85 86 GLY ARG AMYOTROPHIC LATERAL SCLEROSIS 1 SOD1 - GLY85ARG 93 94 GLY CYS AMYOTROPHIC LATERAL SCLEROSIS 1 SOD1 - GLY93CYS 93 94 GLY ALA AMYOTROPHIC LATERAL SCLEROSIS 1 SOD1 - GLY93ALA 100 101 GLU GLY AMYOTROPHIC LATERAL SCLEROSIS 1 SOD1 - GLU100GLY 106 107 LEU VAL AMYOTROPHIC LATERAL SCLEROSIS 1 SOD1 - LEU106VAL 113 114 ILE THR AMYOTROPHIC LATERAL SCLEROSIS 1 SOD1 - ILE113THR 4 5 ALA VAL AMYOTROPHIC LATERAL SCLEROSIS 1 SOD1 - ALA4VAL 46 47 HIS ARG AMYOTROPHIC LATERAL SCLEROSIS 1 SOD1 - HIS46ARG 4 5 ALA THR AMYOTROPHIC LATERAL SCLEROSIS 1 SOD1 - ALA4THR 90 91 ASP ALA AMYOTROPHIC LATERAL SCLEROSIS 1 AMYOTROPHIC LATERAL SCLEROSIS 1 - AUTOSOMAL RECESSIVE - INCLUDED SOD1 - ASP90ALA 104 105 ILE PHE AMYOTROPHIC LATERAL SCLEROSIS 1 - AUTOSOMAL RECESSIVE SOD1 - ILE104PHE 144 145 LEU SER AMYOTROPHIC LATERAL SCLEROSIS 1 SOD1 - LEU144SER 145 146 ALA THR AMYOTROPHIC LATERAL SCLEROSIS 1 SOD1 - ALA145THR 6 7 CYS PHE AMYOTROPHIC LATERAL SCLEROSIS 1 SOD1 - CYS6PHE 151 151 THR ILE AMYOTROPHIC LATERAL SCLEROSIS 1 SOD1 - THR151ILE 21 22 GLU LYS AMYOTROPHIC LATERAL SCLEROSIS 1 SOD1 - GLU21LYS 134 135 SER ASN AMYOTROPHIC LATERAL SCLEROSIS 1 SOD1 - SER134ASN 84 85 LEU VAL AMYOTROPHIC LATERAL SCLEROSIS 1 SOD1 - LEU84VAL 16 17 GLY SER AMYOTROPHIC LATERAL SCLEROSIS 1 SOD1 - GLY16SER 72 73 GLY SER AMYOTROPHIC LATERAL SCLEROSIS 1 SOD1 - GLY72SER 12 13 GLY ARG AMYOTROPHIC LATERAL SCLEROSIS 1 SOD1 - GLY12ARG 45 46 PHE CYS AMYOTROPHIC LATERAL SCLEROSIS 1 SOD1 - PHE45CYS 80 81 HIS ALA AMYOTROPHIC LATERAL SCLEROSIS 1 SOD1 - HIS80ALA 96 97 ASP ASN AMYOTROPHIC LATERAL SCLEROSIS 1 - AUTOSOMAL RECESSIVE SOD1 - ASP96ASN 93 94 GLY ARG AMYOTROPHIC LATERAL SCLEROSIS 1 SOD1 - GLY93ARG 16 16 ALA VAL SUPEROXIDE DISMUTASE 2 POLYMORPHISM MICROVASCULAR COMPLICATIONS OF DIABETES - SUSCEPTIBILITY TO - 6 - INCLUDED SOD2 - ALA16VAL 32 32 PRO THR INOSINE TRIPHOSPHATASE DEFICIENCY ITPA - PRO32THR - rs1127354 156 156 LEU PRO EPIDERMOLYSIS BULLOSA - JUNCTIONAL - WITH PYLORIC ATRESIA ITGB4 - LEU156PRO 61 61 CYS TYR EPIDERMOLYSIS BULLOSA - JUNCTIONAL - WITH PYLORIC ATRESIA ITGB4 - CYS61TYR 562 562 CYS ARG EPIDERMOLYSIS BULLOSA - JUNCTIONAL - WITH PYLORIC ATRESIA ITGB4 - CYS562ARG 38 38 CYS ARG EPIDERMOLYSIS BULLOSA - JUNCTIONAL - WITH PYLORIC ATRESIA ITGB4 - CYS38ARG 931 931 GLY ASP EPIDERMOLYSIS BULLOSA - JUNCTIONAL - NON-HERLITZ TYPE ITGB4 - GLY931ASP 1281 1281 ARG TRP EPIDERMOLYSIS BULLOSA - JUNCTIONAL - WITH PYLORIC ATRESIA ITGB4 - ARG1281TRP 1225 1225 ARG HIS EPIDERMOLYSIS BULLOSA - JUNCTIONAL - WITH PYLORIC ATRESIA ITGB4 - ARG1225HIS 168 168 THR ASN ATYPICAL MYCOBACTERIAL INFECTION - FAMILIAL DISSEMINATED IFNGR2 - THR168ASN 8 8 MET LEU GASTRIC CANCER - SOMATIC IRF1 - MET8LEU 11 11 TRP ARG NONSMALL CELL LUNG CANCER IRF1 - TRP11ARG 140 140 ARG GLN D-2-HYDROXYGLUTARIC ACIDURIA 2 IDH2 - ARG140GLN 140 140 ARG GLY D-2-HYDROXYGLUTARIC ACIDURIA 2 IDH2 - ARG140GLY 996 996 GLY VAL DIABETES MELLITUS - INSULIN-RESISTANT - WITH ACANTHOSIS NIGRICANS INSR - GLY996VAL 460 487 LYS GLU DONOHUE SYNDROME INSR - LYS460GLU 735 762 ARG SER DIABETES MELLITUS - INSULIN-RESISTANT - WITH ACANTHOSIS NIGRICANS INSR - ARG735SER 1134 1161 ALA THR DIABETES MELLITUS - INSULIN-RESISTANT - WITH ACANTHOSIS NIGRICANS INSULIN RESISTANCE - INCLUDED INSR - ALA1134THR 1200 1227 TRP SER DIABETES MELLITUS - INSULIN-RESISTANT - WITH ACANTHOSIS NIGRICANS INSR - TRP1200SER 233 260 LEU PRO DONOHUE SYNDROME INSR - LEU233PRO 382 409 PHE VAL DIABETES MELLITUS - INSULIN-RESISTANT INSR - PHE382VAL 15 42 ASN LYS RABSON-MENDENHALL SYNDROME INSR - ASN15LYS 209 236 HIS ARG DONOHUE SYNDROME INSR - HIS209ARG 462 489 ASN SER DIABETES MELLITUS - INSULIN-RESISTANT - WITH ACANTHOSIS NIGRICANS INSR - ASN462SER 981 981 ARG GLN DIABETES MELLITUS - INSULIN-RESISTANT - WITH ACANTHOSIS NIGRICANS INSR - ARG981GLN 31 58 GLY ARG DONOHUE SYNDROME INSR - GLY31ARG 1152 1152 ARG GLN DIABETES MELLITUS - NONINSULIN-DEPENDENT INSR - ARG1152GLN 28 55 VAL ALA DONOHUE SYNDROME INSR - VAL28ALA 366 393 GLY ARG DONOHUE SYNDROME INSR - GLY366ARG 86 113 ARG PRO DONOHUE SYNDROME INSR - ARG86PRO 1135 1162 ALA GLU DIABETES MELLITUS - INSULIN-RESISTANT - WITH ACANTHOSIS NIGRICANS INSR - ALA1135GLU 985 1012 VAL MET DIABETES MELLITUS - NONINSULIN-DEPENDENT INSR - VAL985MET 1174 1201 ARG GLN DIABETES MELLITUS - INSULIN-RESISTANT - WITH ACANTHOSIS NIGRICANS INSR - ARG1174GLN 1153 1180 MET ILE INSULIN RESISTANCE INSR - MET1153ILE 412 439 TRP SER DONOHUE SYNDROME INSR - TRP412SER 119 146 ILE MET DONOHUE SYNDROME INSR - ILE119MET 431 458 ASN ASP DONOHUE SYNDROME INSR - ASN431ASP 1174 1201 ARG GLN HYPERINSULINEMIC HYPOGLYCEMIA - FAMILIAL - 5 INSR - ARG1174GLN 130 130 ARG GLN ASTHMA - SUSCEPTIBILITY TO ALLERGIC RHINITIS - SUSCEPTIBILITY TO IL13 - ARG130GLN 576 576 GLN ARG ATOPY - SUSCEPTIBILITY TO IL4R - GLN576ARG 50 50 ILE VAL ASTHMA - ATOPIC ACQUIRED IMMUNODEFICIENCY SYNDROME - SLOW PROGRESSION TO - INCLUDED IL4R - ILE50VAL 503 503 SER PRO ATOPY - RESISTANCE TO ASTHMA - SUSCEPTIBILITY TO IL4R - SER503PRO 617 617 VAL PHE POLYCYTHEMIA VERA - SOMATIC THROMBOCYTHEMIA - ESSENTIAL - SOMATIC - INCLUDED;; MYELOFIBROSIS - SOMATIC - INCLUDED;; LEUKEMIA - ACUTE MYELOGENOUS - SOMATIC - INCLUDED;; BUDD-CHIARI SYNDROME - SUSCEPTIBILITY TO - SOMATIC - INCLUDED;; PREGNANCY LOSS - SUSCEPTIBILITY TO - SOMATIC - INCLUDED JAK2 - VAL617PHE 607 607 LYS ASN LEUKEMIA - ACUTE MYELOGENOUS - SOMATIC JAK2 - LYS607ASN 539 539 LYS LEU ERYTHROCYTOSIS - JAK2-RELATED - SOMATIC JAK2 - LYS539LEU 29 29 LYS MET MALARIA - CEREBRAL - SUSCEPTIBILITY TO ICAM1 - LYS29MET 358 358 ASP ALA INTERLEUKIN-6 SOLUBLE RECEPTOR - SERUM LEVEL OF IL6R - ASP358ALA 53 53 ARG HIS KALLIKREIN - DECREASED URINARY ACTIVITY OF KLKR - ARG53HIS 475 475 GLU GLY EPIDERMOLYSIS BULLOSA SIMPLEX - DOWLING-MEARA TYPE KRT5 - GLU475GLY 462 462 LEU PRO EPIDERMOLYSIS BULLOSA SIMPLEX - GENERALIZED KRT5 - LEU462PRO 161 161 ILE SER EPIDERMOLYSIS BULLOSA SIMPLEX - LOCALIZED KRT5 - ILE161SER 327 327 MET THR EPIDERMOLYSIS BULLOSA SIMPLEX - LOCALIZED KRT5 - MET327THR 329 329 ASN LYS EPIDERMOLYSIS BULLOSA SIMPLEX - LOCALIZED KRT5 - ASN329LYS 173 173 LYS ASN EPIDERMOLYSIS BULLOSA SIMPLEX - GENERALIZED KRT5 - LYS173ASN 193 193 ASN LYS EPIDERMOLYSIS BULLOSA SIMPLEX - LOCALIZED KRT5 - ASN193LYS 174 174 LEU PHE EPIDERMOLYSIS BULLOSA SIMPLEX - DOWLING-MEARA TYPE KRT5 - LEU174PHE 25 25 PRO LEU EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION KRT5 - PRO25LEU 7 7 VAL ALA EPIDERMOLYSIS BULLOSA SIMPLEX - GENERALIZED KRT5 - VAL7ALA 181 181 SER PRO EPIDERMOLYSIS BULLOSA SIMPLEX - DOWLING-MEARA TYPE KRT5 - SER181PRO 186 186 VAL LEU EPIDERMOLYSIS BULLOSA SIMPLEX - GENERALIZED KRT5 - VAL186LEU 170 170 GLU LYS EPIDERMOLYSIS BULLOSA SIMPLEX - AUTOSOMAL RECESSIVE EPIDERMOLYSIS BULLOSA SIMPLEX - LOCALIZED - INCLUDED KRT5 - GLU170LYS 418 418 GLU LYS EPIDERMOLYSIS BULLOSA SIMPLEX - AUTOSOMAL RECESSIVE KRT5 - GLU418LYS 174 174 PHE VAL PACHYONYCHIA CONGENITA - TYPE 1 KRT6A - PHE174VAL 472 472 GLU LYS PACHYONYCHIA CONGENITA - TYPE 1 KRT6A - GLU472LYS 469 469 LEU ARG PACHYONYCHIA CONGENITA - TYPE 1 KRT6A - LEU469ARG 472 472 GLU LYS PACHYONYCHIA CONGENITA - TYPE 2 KRT6B - GLU472LYS 509 509 GLU LYS MEESMANN CORNEAL DYSTROPHY KRT3 - GLU509LYS 61 62 GLY CYS CIRRHOSIS - CRYPTOGENIC CIRRHOSIS - NONCRYPTOGENIC - SUSCEPTIBILITY TO - INCLUDED KRT8 - GLY61CYS 53 54 TYR HIS CIRRHOSIS - CRYPTOGENIC KRT8 - TYR53HIS 15 15 LEU PRO WHITE SPONGE NEVUS KRT13 - LEU15PRO 384 384 LEU PRO EPIDERMOLYSIS BULLOSA SIMPLEX - GENERALIZED KRT14 - LEU384PRO 125 125 ARG CYS EPIDERMOLYSIS BULLOSA SIMPLEX - DOWLING-MEARA TYPE KRT14 - ARG125CYS 125 125 ARG HIS EPIDERMOLYSIS BULLOSA SIMPLEX - DOWLING-MEARA TYPE KRT14 - ARG125HIS 144 144 GLU ALA EPIDERMOLYSIS BULLOSA SIMPLEX - AUTOSOMAL RECESSIVE KRT14 - GLU144ALA 272 272 MET ARG EPIDERMOLYSIS BULLOSA SIMPLEX - GENERALIZED KRT14 - MET272ARG 119 119 MET THR EPIDERMOLYSIS BULLOSA SIMPLEX - DOWLING-MEARA TYPE KRT14 - MET119THR 119 119 MET ILE EPIDERMOLYSIS BULLOSA SIMPLEX - LOCALIZED EPIDERMOLYSIS BULLOSA SIMPLEX - AUTOSOMAL RECESSIVE - INCLUDED KRT14 - MET119ILE 415 415 TYR HIS EPIDERMOLYSIS BULLOSA SIMPLEX - DOWLING-MEARA TYPE KRT14 - TYR415HIS 419 419 LEU GLN EPIDERMOLYSIS BULLOSA SIMPLEX - DOWLING-MEARA TYPE KRT14 - LEU419GLN 422 422 GLU LYS EPIDERMOLYSIS BULLOSA SIMPLEX - DOWLING-MEARA TYPE KRT14 - GLU422LYS 123 123 ASN SER EPIDERMOLYSIS BULLOSA SIMPLEX - DOWLING-MEARA TYPE KRT14 - ASN123SER 132 132 LEU PRO PACHYONYCHIA CONGENITA - TYPE 1 KRT16 - LEU132PRO 127 127 ARG CYS PALMOPLANTAR KERATODERMA - NONEPIDERMOLYTIC - FOCAL KRT16 - ARG127CYS 125 125 ASN SER PALMOPLANTAR KERATODERMA - NONEPIDERMOLYTIC - FOCAL KRT16 - ASN125SER 127 127 ARG PRO PACHYONYCHIA CONGENITA - TYPE 1 KRT16 - ARG127PRO 122 122 GLN PRO PACHYONYCHIA CONGENITA - TYPE 1 KRT16 - GLN122PRO 124 124 LEU ARG PACHYONYCHIA CONGENITA - TYPE 1 KRT16 - LEU124ARG 354 354 LYS ASN PACHYONYCHIA CONGENITA TARDA - TYPE 1 KRT16 - LYS354ASN 121 121 MET THR PACHYONYCHIA CONGENITA - TYPE 1 KRT16 - MET121THR 128 128 LEU GLN PACHYONYCHIA CONGENITA - TYPE 1 KRT16 - LEU128GLN 92 92 ASN ASP PACHYONYCHIA CONGENITA - TYPE 2 KRT17 - ASN92ASP 92 92 ASN SER PACHYONYCHIA CONGENITA - TYPE 2 KRT17 - ASN92SER 98 98 TYR ASP PACHYONYCHIA CONGENITA - TYPE 2 KRT17 - TYR98ASP 92 92 ASN HIS STEATOCYSTOMA MULTIPLEX KRT17 - ASN92HIS 94 94 ARG HIS STEATOCYSTOMA MULTIPLEX PACHYONYCHIA CONGENITA - TYPE 2 - INCLUDED KRT17 - ARG94HIS 94 94 ARG CYS STEATOCYSTOMA MULTIPLEX PACHYONYCHIA CONGENITA - TYPE 2 - INCLUDED KRT17 - ARG94CYS 88 88 MET THR PACHYONYCHIA CONGENITA - TYPE 2 KRT17 - MET88THR 94 94 ARG PRO PACHYONYCHIA CONGENITA - TYPE 2 KRT17 - ARG94PRO 95 95 LEU GLN PACHYONYCHIA CONGENITA - TYPE 2 KRT17 - LEU95GLN 95 95 LEU PRO PACHYONYCHIA CONGENITA - TYPE 2 KRT17 - LEU95PRO 99 99 LEU PRO PACHYONYCHIA CONGENITA - TYPE 2 KRT17 -LEU99PRO 102 102 VAL MET PACHYONYCHIA CONGENITA - TYPE 2 KRT17 - VAL102MET 127 128 HIS LEU CIRRHOSIS - CRYPTOGENIC CIRRHOSIS - NONCRYPTOGENIC - SUSCEPTIBILITY TO - INCLUDED KRT18 - HIS127LEU 10 10 ARG HIS EPIDERMOLYTIC HYPERKERATOSIS KRT10 - ARG10HIS 15 15 LEU SER EPIDERMOLYTIC HYPERKERATOSIS KRT10 - LEU15SER 156 156 ARG HIS EPIDERMOLYTIC HYPERKERATOSIS KRT10 - ARG156HIS 10 10 ARG CYS EPIDERMOLYTIC HYPERKERATOSIS KRT10 - ARG10CYS 10 10 ARG LEU EPIDERMOLYTIC HYPERKERATOSIS KRT10 - ARG10LEU 8 8 ASN HIS EPIDERMOLYTIC HYPERKERATOSIS KRT10 - ASN8HIS 14 14 TYR ASP EPIDERMOLYTIC HYPERKERATOSIS KRT10 - TYR14ASP 103 103 LEU GLN EPIDERMOLYTIC HYPERKERATOSIS KRT10 - LEU103GLN 156 156 ARG CYS EPIDERMOLYTIC HYPERKERATOSIS KRT10 - ARG156CYS 150 150 MET ARG EPIDERMOLYTIC HYPERKERATOSIS KRT10 - MET150ARG 439 439 LYS GLU EPIDERMOLYTIC HYPERKERATOSIS KRT10 - LYS439GLU 150 150 MET THR EPIDERMOLYTIC HYPERKERATOSIS KRT10 - MET150THR 83 83 ARG GLU ICHTHYOSIS - CYCLIC - WITH EPIDERMOLYTIC HYPERKERATOSIS KRT10 - ARG83GLU 173 173 ARG HIS LACTATE DEHYDROGENASE B DEFICIENCY LDHB - ARG173HIS 131 131 SER ARG LACTATE DEHYDROGENASE B DEFICIENCY LDHB - SER131ARG 6 6 LYS GLU LACTATE DEHYDROGENASE B DEFICIENCY LDHB - LYS6GLU 323 323 TRP ARG LACTATE DEHYDROGENASE B DEFICIENCY LDHB - TRP323ARG 210 210 GLU LYS EPIDERMOLYSIS BULLOSA - JUNCTIONAL - NON-HERLITZ TYPE LAMB3 - GLU210LYS 199 199 GLY ALA EPIDERMOLYSIS BULLOSA - JUNCTIONAL - NON-HERLITZ TYPE - SOMATIC MOSAIC REVERTANT LAMB3 - GLY199ALA 207 207 LYS GLN EPIDERMOLYSIS BULLOSA - JUNCTIONAL - NON-HERLITZ TYPE - SOMATIC MOSAIC REVERTANT LAMB3 - LYS207GLN 246 246 ARG TRP PIERSON SYNDROME LAMB2 - ARG246TRP 246 246 ARG GLN NEPHROTIC SYNDROME - CONGENITAL - WITH OR WITHOUT OCULAR ABNORMALITIES LAMB2 - ARG246GLN 1380 1380 ASN LYS NEPHROTIC SYNDROME - CONGENITAL - WITH OR WITHOUT OCULAR ABNORMALITIES LAMB2 - ASN1380LYS AND LEU1393PHE 1393 1393 LEU PHE NEPHROTIC SYNDROME - CONGENITAL - WITH OR WITHOUT OCULAR ABNORMALITIES LAMB2 - ASN1380LYS AND LEU1393PHE 321 321 CYS ARG NEPHROTIC SYNDROME - CONGENITAL - WITH OR WITHOUT OCULAR ABNORMALITIES LAMB2 - CYS321ARG 453 453 ARG TRP EMERY-DREIFUSS MUSCULAR DYSTROPHY - AUTOSOMAL DOMINANT LMNA - ARG453TRP 527 527 ARG PRO EMERY-DREIFUSS MUSCULAR DYSTROPHY - AUTOSOMAL DOMINANT LIPODYSTROPHY - FAMILIAL PARTIAL - TYPE 2 - INCLUDED LMNA - ARG527PRO 530 530 LEU PRO EMERY-DREIFUSS MUSCULAR DYSTROPHY - AUTOSOMAL DOMINANT LMNA - LEU530PRO 60 60 ARG GLY CARDIOMYOPATHY - DILATED - 1A LIPODYSTROPHY - FAMILIAL PARTIAL - TYPE 2 - INCLUDED LMNA - ARG60GLY 85 85 LEU ARG CARDIOMYOPATHY - DILATED - 1A LMNA - LEU85ARG 195 195 ASN LYS CARDIOMYOPATHY - DILATED - 1A LMNA - ASN195LYS 203 203 GLU GLY CARDIOMYOPATHY - DILATED - 1A LMNA - GLU203GLY 571 571 ARG SER CARDIOMYOPATHY - DILATED - 1A LMNA - ARG571SER 482 482 ARG GLN LIPODYSTROPHY - FAMILIAL PARTIAL - TYPE 2 LMNA - ARG482GLN 482 482 ARG TRP LIPODYSTROPHY - FAMILIAL PARTIAL - TYPE 2 LMNA - ARG482TRP 482 482 ARG LEU LIPODYSTROPHY - FAMILIAL PARTIAL - TYPE 2 LMNA - ARG482LEU 222 222 HIS TYR EMERY-DREIFUSS MUSCULAR DYSTROPHY - ATYPICAL - AUTOSOMAL RECESSIVE LMNA - HIS222TYR 465 465 GLY ASP LIPODYSTROPHY - FAMILIAL PARTIAL - TYPE 2 LMNA - GLY465ASP 582 582 ARG HIS LIPODYSTROPHY - FAMILIAL PARTIAL - TYPE 2 LMNA - ARG582HIS 377 377 ARG HIS MUSCULAR DYSTROPHY - LIMB-GIRDLE - TYPE 1B CARDIOMYOPATHY - DILATED - 1A - INCLUDED LMNA - ARG377HIS 298 298 ARG CYS CHARCOT-MARIE-TOOTH DISEASE - AXONAL - TYPE 2B1 LMNA - ARG298CYS 527 527 ARG HIS MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY - ATYPICAL - INCLUDED LMNA - ARG527HIS 608 608 GLY GLY HUTCHINSON-GILFORD PROGERIA SYNDROME RESTRICTIVE DERMOPATHY - LETHAL - INCLUDED LMNA - GLY608GLY 608 608 GLY SER HUTCHINSON-GILFORD PROGERIA SYNDROME LMNA - GLY608SER 145 145 GLU LYS HUTCHINSON-GILFORD PROGERIA SYNDROME - ATYPICAL LMNA - GLU145LYS 471 471 ARG CYS MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY - ATYPICAL LMNA - ARG471CYS 527 527 ARG CYS MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY LMNA - ARG527CYS 133 133 ARG LEU LIPODYSTROPHY - FAMILIAL PARTIAL - TYPE 2 HUTCHINSON-GILFORD PROGERIA SYNDROME - CHILDHOOD-ONSET - INCLUDED LMNA - ARG133LEU 161 161 GLU LYS CARDIOMYOPATHY - DILATED - 1A LMNA - GLU161LYS 57 57 ALA PRO CARDIOMYOPATHY - DILATED - WITH HYPERGONADOTRIPIC HYPOGONADISM LMNA - ALA57PRO 140 140 LEU ARG HUTCHINSON-GILFORD PROGERIA SYNDROME - CHILDHOOD-ONSET LMNA - LEU140ARG 133 133 ARG PRO EMERY-DREIFUSS MUSCULAR DYSTROPHY - AUTOSOMAL DOMINANT LMNA - ARG133PRO 542 542 LYS ASN MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY LMNA - LYS542ASN 143 143 SER PHE MUSCULAR DYSTROPHY - CONGENITAL - LMNA-RELATED LMNA - SER143PHE 529 529 ALA VAL MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY LMNA - ALA529VAL 607 607 VAL VAL HUTCHINSON-GILFORD PROGERIA SYNDROME LMNA - VAL607VAL 573 573 SER LEU CARDIOMYOPATHY - DILATED - 1A MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY - ATYPICAL - INCLUDED;; LIPODYSTROPHY - FAMILIAL PARTIAL - TYPE 2 - INCLUDED LMNA - SER573LEU 230 230 ASP ASN LIPODYSTROPHY - FAMILIAL PARTIAL - TYPE 2 LMNA - ASP230ASN 399 399 ARG CYS LIPODYSTROPHY - FAMILIAL PARTIAL - TYPE 2 LMNA - ARG399CYS 440 440 VAL MET MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY - ATYPICAL LMNA - VAL440MET 529 529 ALA THR MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY LMNA - ALA529THR 380 380 LEU SER MUSCULAR DYSTROPHY - CONGENITAL - LMNA-RELATED LMNA - LEU380SER 249 249 ARG TRP MUSCULAR DYSTROPHY - CONGENITAL - LMNA-RELATED LMNA - ARG249TRP 358 358 GLU LYS EMERY-DREIFUSS MUSCULAR DYSTROPHY - AUTOSOMAL DOMINANT MUSCULAR DYSTROPHY - CONGENITAL - LMNA-RELATED - INCLUDED;; MUSCULAR DYSTROPHY - LIMB-GIRDLE - TYPE 1B - INCLUDED LMNA - GLU358LYS 644 644 ARG CYS VARIANT OF UNKNOWN SIGNIFICANCE LMNA - ARG644CYS 59 59 LEU ARG CARDIOMYOPATHY - DILATED - WITH HYPERGONADOTRIPIC HYPOGONADISM LMNA - LEU59ARG 215 215 ARG GLN LIPODYSTROPHY - PARTIAL - ACQUIRED LMNB2 - ARG215GLN 407 407 ALA THR LIPODYSTROPHY - PARTIAL - ACQUIRED LMNB2 - ALA407THR 201 201 ARG GLN PLATELET DISORDER - FAMILIAL - WITH ASSOCIATED MYELOID MALIGNANCY RUNX1 - ARG201GLN 83 83 LYS GLU PLATELET DISORDER - FAMILIAL - WITH ASSOCIATED MYELOID MALIGNANCY RUNX1 - LYS83GLU 107 107 ALA PRO PLATELET DISORDER - FAMILIAL - WITH ASSOCIATED MYELOID MALIGNANCY RUNX1 - ALA107PRO 58 58 HIS ASN TRANSIENT MYELOPROLIFERATIVE DISORDER OF DOWN SYNDROME LEUKEMIA - ACUTE MYELOID - M0 SUBTYPE - INCLUDED RUNX1 - HIS58ASN 129 129 ALA GLU PLATELET DISORDER - FAMILIAL - WITH ASSOCIATED MYELOID MALIGNANCY RUNX1 - ALA129GLU 383 405 THR MET HEPATIC LIPASE DEFICIENCY LIPC - THR383MET 267 289 SER PHE HEPATIC LIPASE DEFICIENCY LIPC - SER267PHE 561 561 ALA VAL LONG QT SYNDROME 2 KCNH2 - ALA561VAL 470 470 ASN ASP LONG QT SYNDROME 2 KCNH2 - ASN470ASP 593 593 ILE ARG LONG QT SYNDROME 2 KCNH2 - ILE593ARG 822 822 VAL MET LONG QT SYNDROME 2 KCNH2 - VAL822MET 628 628 GLY SER LONG QT SYNDROME 2 KCNH2 - GLY628SER 582 582 ARG CYS LONG QT SYNDROME 2 KCNH2 - ARG582CYS 572 572 GLY ARG LONG QT SYNDROME 2 KCNH2 - GLY572ARG 490 490 ALA THR LONG QT SYNDROME - BRADYCARDIA-INDUCED KCNH2 - ALA490THR 818 818 SER LEU LONG QT SYNDROME 2 KCNH2 - SER818LEU 784 784 ARG TRP LONG QT SYNDROME 2 - ACQUIRED - SUSCEPTIBILITY TO KCNH2 - ARG784TRP 65 65 THR PRO LONG QT SYNDROME 2 KCNH2 - THR65PRO 752 752 ARG GLN LONG QT SYNDROME 2 KCNH2 - ARG752GLN 588 588 ASN LYS SHORT QT SYNDROME 1 KCNH2 - ASN588LYS 588 588 ASN LYS SHORT QT SYNDROME 1 KCNH2 - ASN588LYS 861 861 ASN ILE LONG QT SYNDROME 2 LONG QT SYNDROME 2/5 - DIGENIC - INCLUDED KCNH2 - ASN861ILE 948 948 ARG CYS LONG QT SYNDROME 1/2 - DIGENIC KCNH2 - ARG948CYS 100 100 ARG GLY LONG QT SYNDROME 2/3 - DIGENIC KCNH2 - ARG100GLY 913 913 ARG VAL LONG QT SYNDROME 2 LONG QT SYNDROME 2/9 - DIGENIC - INCLUDED KCNH2 - ARG913VAL 558 558 ALA PRO LONG QT SYNDROME 2 KCNH2 - ALA558PRO 54 74 GLN ARG HYPOGONADISM - MALE LHB - GLN54ARG 8 28 TRP ARG LUTEINIZING HORMONE POLYMORPHISM LHB - TRP8ARG AND ILE15THR 15 35 ILE THR LUTEINIZING HORMONE POLYMORPHISM LHB - TRP8ARG AND ILE15THR 102 122 GLY SER INFERTILITY - MALE AND FEMALE LHB - GLY102SER 36 56 GLY ASP HYPOGONADISM - MALE LHB - GLY36ASP 578 578 ASP GLY PRECOCIOUS PUBERTY - MALE-LIMITED LHCGR - ASP578GLY 575 575 MET ILE PRECOCIOUS PUBERTY - MALE-LIMITED LHCGR - MET575ILE 582 582 ASP GLY PRECOCIOUS PUBERTY - MALE-LIMITED LHCGR - ASP582GLY 593 593 ALA PRO LEYDIG CELL HYPOPLASIA - TYPE I LUTEINIZING HORMONE RESISTANCE - FEMALE - INCLUDED LHCGR - ALA593PRO 577 577 THR ILE PRECOCIOUS PUBERTY - MALE-LIMITED LHCGR - THR577ILE 572 572 ALA VAL PRECOCIOUS PUBERTY - MALE-LIMITED LHCGR - ALA572VAL 616 616 SER TYR LEYDIG HYPOPLASIA - TYPE I LHCGR - SER616TYR 398 398 MET THR PRECOCIOUS PUBERTY - MALE-LIMITED LHCGR - MET398THR 578 578 ASP GLY PRECOCIOUS PUBERTY - MALE-LIMITED LHCGR - ASP578GLY 133 133 ARG CYS LEYDIG CELL HYPOPLASIA - TYPE II LHCGR - ARG133CYS 373 373 ALA VAL PRECOCIOUS PUBERTY - MALE-LIMITED LHCGR - ALA373VAL 354 354 GLU LYS LEYDIG CELL HYPOPLASIA - TYPE I LUTEINIZING HORMONE RESISTANCE - FEMALE - INCLUDED LHCGR - GLU354LYS 625 625 ILE LYS LEYDIG CELL HYPOPLASIA - TYPE II LHCGR - ILE625LYS 542 542 ILE LEU PRECOCIOUS PUBERTY - MALE-LIMITED LHCGR - ILE542LEU 578 578 ASP HIS LEYDIG CELL ADENOMA - SOMATIC - WITH MALE-LIMITED PRECOCIOUS PUBERTY LHCGR - ASP578HIS 368 368 LEU PRO PRECOCIOUS PUBERTY - MALE-LIMITED LHCGR - LEU368PRO 568 568 ALA VAL PRECOCIOUS PUBERTY - MALE-LIMITED LHCGR - ALA568VAL 457 457 LEU ARG PRECOCIOUS PUBERTY - MALE-LIMITED LHCGR - LEU457ARG 343 343 CYS SER LEYDIG CELL HYPOPLASIA - TYPE I LHCGR - CYS343SER 543 543 CYS ARG LEYDIG CELL HYPOPLASIA - TYPE I LHCGR - CYS543ARG 502 502 LEU PRO LEYDIG CELL HYPOPLASIA - TYPE I LHCGR - LEU502PRO 144 144 VAL PHE LEYDIG CELL HYPOPLASIA - TYPE I LHCGR - VAL144PHE 564 564 ASP GLY PRECOCIOUS PUBERTY - MALE-LIMITED LHCGR - ASP564GLY 238 238 PRO SER IgA NEPHROPATHY - SUSCEPTIBILITY TO SELL - PRO238SER 61 61 SER PRO SEBACEOUS TUMORS - SOMATIC LEF1 - GLU45LYS AND SER61PRO 45 45 GLU LYS SEBACEOUS TUMORS - SOMATIC LEF1 - GLU45LYS AND SER61PRO 26 26 THR ASN MYOCARDIAL INFARCTION - SUSCEPTIBILITY TO LTA - THR26ASN 56 74 ILE THR AMYLOIDOSIS - FAMILIAL VISCERAL LYZ - ILE56THR 67 85 ASP HIS AMYLOIDOSIS - FAMILIAL VISCERAL LYZ - ASP67HIS 64 82 TRP ARG AMYLOIDOSIS - FAMILIAL VISCERAL LYZ - TRP64ARG - T-C 57 75 PHE ILE AMYLOIDOSIS - FAMILIAL VISCERAL LYZ - PHE57ILE 64 82 TRP ARG AMYLOIDOSIS - FAMILIAL VISCERAL LYZ - TRP64ARG - T-A 678 678 GLY ARG EHLERS-DANLOS SYNDROME - TYPE VI PLOD1 - GLY678ARG 612 612 TRP CYS EHLERS-DANLOS SYNDROME - TYPE VI PLOD1 - TRP612CYS 158 158 ARG GLN LYSYL OXIDASE POLYMORPHISM LOX - ARG158GLN 141 141 ARG LEU EXFOLIATION SYNDROME - SUSCEPTIBILITY TO LOXL1 - ARG141LEU 153 153 GLY ASP EXFOLIATION SYNDROME - SUSCEPTIBILITY TO LOXL1 - GLY153ASP 174 174 ASP TYR PROSTATE CANCER MSR1 - ASP174TYR 105 105 PHE VAL CATARACT - CORTICAL PULVERULENT - LATE-ONSET LIM2 - PHE105VAL 138 138 THR ARG CATARACT - POLYMORPHIC AND LAMELLAR MIP - THR138ARG 134 134 GLU GLY CATARACT - POLYMORPHIC AND LAMELLAR MIP - GLU134GLY 54 54 GLY ASP MANNOSE-BINDING PROTEIN DEFICIENCY GESTATIONAL DIABETES MELLITUS - SUSCEPTIBILITY TO - INCLUDED MBL2 - GLY54ASP 57 57 GLY GLU MANNOSE-BINDING PROTEIN DEFICIENCY MBL2 - GLY57GLU 52 52 ARG CYS MANNOSE-BINDING PROTEIN DEFICIENCY PRETERM DELIVERY - SUSCEPTIBILITY TO - INCLUDED MBL2 - ARG52CYS 219 219 ARG GLN CONGENITAL DISORDER OF GLYCOSYLATION - TYPE Ib MPI - ARG219GLN 102 102 SER LEU CONGENITAL DISORDER OF GLYCOSYLATION - TYPE Ib MPI - SER102LEU 138 138 MET THR CONGENITAL DISORDER OF GLYCOSYLATION - TYPE Ib MPI - MET138THR 295 295 ARG HIS CONGENITAL DISORDER OF GLYCOSYLATION - TYPE Ib MPI - ARG295HIS 183 183 ILE ASN OBESITY - SUSCEPTIBILITY TO MC3R - ILE183ASN 335 335 ILE SER OBESITY - SUSCEPTIBILITY TO MC3R - ILE335SER 37 37 ASP VAL OBESITY MC4R - ASP37VAL 50 50 VAL MET OBESITY MC4R - VAL50MET 58 58 SER CYS OBESITY MC4R - SER58CYS 102 102 ILE SER OBESITY MC4R - ILE102SER 170 170 ILE VAL OBESITY MC4R - ILE170VAL 274 274 ASN SER OBESITY MC4R - ASN274SER 125 125 ILE LYS OBESITY MC4R - ILE125LYS 271 271 CYS TYR OBESITY MC4R - CYS271TYR 175 175 ALA THR OBESITY MC4R - ALA175THR 316 316 ILE SER OBESITY MC4R - ILE316SER 97 97 ASN ASP OBESITY MC4R - ASN97ASP 62 62 ASN SER OBESITY MC4R - ASN62SER 127 127 SER LEU OBESITY MC4R - SER127LEU 219 219 ALA VAL OBESITY MC4R - ALA219VAL 294 294 ASP HIS SKIN/HAIR/EYE PIGMENTATION 2 - RED HAIR/FAIR SKIN MC1R - ASP294HIS 92 92 VAL MET SKIN/HAIR/EYE PIGMENTATION 2 - RED HAIR/FAIR SKIN SKIN/HAIR/EYE PIGMENTATION 2 - BLOND HAIR/FAIR SKIN - INCLUDED MC1R - VAL92MET 84 84 ASP GLU MELANOMA - CUTANEOUS MALIGNANT - SUSCEPTIBILITY TO - 5 MC1R - ASP84GLU 151 151 ARG CYS SKIN/HAIR/EYE PIGMENTATION 2 - RED HAIR/FAIR SKIN INCREASED ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST - FEMALE-SPECIFIC - INCLUDED;; OCULOCUTANEOUS ALBINISM - TYPE II - MODIFIER OF - INCLUDED;; PARKINSON DISEASE - LATE-ONSET - SUSCEPTIBILITY TO - INCLUDED MC1R - ARG151CYS 160 160 ARG TRP SKIN/HAIR/EYE PIGMENTATION 2 - RED HAIR/FAIR SKIN INCREASED ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST - FEMALE-SPECIFIC - INCLUDED;; OCULOCUTANEOUS ALBINISM - TYPE II - MODIFIER OF - INCLUDED MC1R - ARG160TRP 60 60 VAL LEU SKIN/HAIR/EYE PIGMENTATION 2 - BLOND HAIR/FAIR SKIN MC1R - VAL60LEU 157 157 THR ILE UV-INDUCED SKIN DAMAGE - SUSCEPTIBILITY TO MC1R - THR157ILE 159 159 PRO THR UV-INDUCED SKIN DAMAGE - SUSCEPTIBILITY TO MC1R - PRO159THR 2267 2266 ASP ASN SPONDYLOEPIMETAPHYSEAL DYSPLASIA - AGGRECAN TYPE ACAN - ASP2267ASN 2303 2302 VAL MET OSTEOCHONDRITIS DISSECANS - SHORT STATURE - AND EARLY-ONSET OSTEOARTHRITIS ACAN - VAL2303MET 2564 2564 LEU PRO MUSCULAR DYSTROPHY - CONGENITAL MEROSIN-DEFICIENT LAMA2 - LEU2564PRO 862 862 CYS ARG MUSCULAR DYSTROPHY - CONGENITAL - DUE TO PARTIAL LAMA2 DEFICIENCY LAMA2 - CYS862ARG 527 527 CYS TYR MUSCULAR DYSTROPHY - CONGENITAL - DUE TO PARTIAL LAMA2 DEFICIENCY LAMA2 - CYS527TYR 1173 1173 PRO LEU METHYLCOBALAMIN DEFICIENCY - cblG TYPE MTR - PRO1173LEU 920 920 HIS ASP METHYLCOBALAMIN DEFICIENCY - cblG TYPE MTR - HIS920ASP 410 410 ALA PRO METHYLCOBALAMIN DEFICIENCY - cblG TYPE MTR - ALA410PRO 250 357 SER PRO WAARDENBURG SYNDROME - TYPE 2A MITF - SER250PRO 210 317 ASN LYS TIETZ ALBINISM-DEAFNESS SYNDROME MITF - ASN210LYS 298 405 SER PRO WAARDENBURG SYNDROME - TYPE 2A MITF - SER298PRO 301 618 PRO LEU DEMENTIA - FRONTOTEMPORAL - WITH PARKINSONISM SUPRANUCLEAR PALSY - PROGRESSIVE - INCLUDED MAPT - PRO301LEU 272 589 GLY VAL DEMENTIA - FRONTOTEMPORAL - WITH PARKINSONISM MAPT - GLY272VAL 406 723 ARG TRP DEMENTIA - FRONTOTEMPORAL MAPT - ARG406TRP 337 654 VAL MET DEMENTIA - FRONTOTEMPORAL - WITH PARKINSONISM MAPT - VAL337MET 279 596 ASN LYS DEMENTIA - FRONTOTEMPORAL - WITH PARKINSONISM MAPT - ASN279LYS 305 622 SER ASN DEMENTIA - FRONTOTEMPORAL - WITH PARKINSONISM MAPT - SER305ASN 389 706 GLY ARG PICK DISEASE MAPT - GLY389ARG 301 618 PRO SER DEMENTIA - FRONTOTEMPORAL - WITH PARKINSONISM MAPT - PRO301SER 296 613 ASN ASN DEMENTIA - FRONTOTEMPORAL MAPT - ASN296ASN 342 659 GLU VAL DEMENTIA - FRONTOTEMPORAL - WITH PARKINSONISM MAPT - GLU342VAL 257 574 LYS THR PICK DISEASE MAPT - LYS257THR 369 686 LYS ILE PICK DISEASE MAPT - LYS369ILE 5 5 ARG HIS DEMENTIA - FRONTOTEMPORAL - WITH PARKINSONISM MAPT - ARG5HIS 320 637 SER PHE PICK DISEASE MAPT - SER320PHE 5 5 ARG LEU SUPRANUCLEAR PALSY - PROGRESSIVE MAPT - ARG5LEU 266 583 LEU VAL DEMENTIA - FRONTOTEMPORAL MAPT - LEU266VAL 352 669 SER LEU TAUOPATHY AND RESPIRATORY FAILURE MAPT - SER352LEU 317 634 LYS MET DEMENTIA - FRONTOTEMPORAL - WITH PARKINSONISM MAPT - LYS317MET 303 620 GLY VAL SUPRANUCLEAR PALSY - PROGRESSIVE MAPT - GLY303VAL 540 540 ARG HIS ABETALIPOPROTEINEMIA MTP - ARG540HIS 780 780 ASN TYR ABETALIPOPROTEINEMIA MTP - ASN780TYR 590 590 SER ILE ABETALIPOPROTEINEMIA MTP - SER590ILE 128 128 ILE THR METABOLIC SYNDROME - PROTECTION AGAINST MTP - ILE128THR 252 252 ASP GLY MITOCHONDRIAL COMPLEX I DEFICIENCY NDUFS1 - ASP252GLY 241 241 ARG TRP MITOCHONDRIAL COMPLEX I DEFICIENCY NDUFS1 - ARG241TRP 231 231 LEU VAL MITOCHONDRIAL COMPLEX I DEFICIENCY NDUFS1 - LEU231VAL 698 698 ALA VAL COLORECTAL CANCER - SOMATIC MCC - ALA698VAL 506 506 ARG GLN COLORECTAL CANCER - SOMATIC MCC - ARG506GLN 96 96 LYS GLU CHARCOT-MARIE-TOOTH DISEASE - TYPE 1B MPZ - LYS96GLU 90 90 ASP GLU CHARCOT-MARIE-TOOTH DISEASE - TYPE 1B MPZ - ASP90GLU 63 63 SER CYS DEJERINE-SOTTAS SYNDROME - AUTOSOMAL DOMINANT MPZ - SER63CYS 167 167 GLY ARG DEJERINE-SOTTAS SYNDROME - AUTOSOMAL DOMINANT MPZ - GLY167ARG 216 216 THR GLU CHARCOT-MARIE-TOOTH DISEASE - TYPE 1B MPZ - THR216GLU-ARG 135 135 ILE THR CHARCOT-MARIE-TOOTH DISEASE - TYPE 1B MPZ - ILE135THR 137 137 GLY SER CHARCOT-MARIE-TOOTH DISEASE - TYPE 1B MPZ - GLY137SER 98 98 ARG PRO CHARCOT-MARIE-TOOTH DISEASE - TYPE 1B MPZ - ARG98PRO 98 98 ARG CYS CHARCOT-MARIE-TOOTH DISEASE - TYPE 1B MPZ - ARG98CYS 98 98 ARG HIS CHARCOT-MARIE-TOOTH DISEASE - TYPE 1B MPZ - ARG98HIS 63 63 SER PHE CHARCOT-MARIE-TOOTH DISEASE - TYPE 1B MPZ - SER63PHE 81 81 HIS ARG CHARCOT-MARIE-TOOTH DISEASE - TYPE 1B MPZ - HIS81ARG 85 85 ILE THR DEJERINE-SOTTAS SYNDROME - SPORADIC MPZ - ILE85THR - ASN87HIS - ASP99ASN 87 87 ASN HIS DEJERINE-SOTTAS SYNDROME - SPORADIC MPZ - ILE85THR - ASN87HIS - ASP99ASN 99 99 ASP ASN DEJERINE-SOTTAS SYNDROME - SPORADIC MPZ - ILE85THR - ASN87HIS - ASP99ASN 124 124 THR MET CHARCOT-MARIE-TOOTH DISEASE - TYPE 2J CHARCOT-MARIE-TOOTH DISEASE - TYPE 1B - INCLUDED MPZ - THR124MET 92 92 VAL MET CHARCOT-MARIE-TOOTH DISEASE - TYPE 2I MPZ - ILE89ASN - VAL92MET - ILE162MET 89 89 ILE ASN CHARCOT-MARIE-TOOTH DISEASE - TYPE 2I MPZ - ILE89ASN - VAL92MET - ILE162MET 162 162 ILE MET CHARCOT-MARIE-TOOTH DISEASE - TYPE 2I MPZ - ILE89ASN - VAL92MET - ILE162MET 6 6 ASP TYR CHARCOT-MARIE-TOOTH DISEASE - DOMINANT INTERMEDIATE D MPZ - ASP6TYR 75 75 ASP VAL CHARCOT-MARIE-TOOTH DISEASE - TYPE 2J MPZ - ASP75VAL 44 44 SER PHE CHARCOT-MARIE-TOOTH DISEASE - TYPE 2I MPZ - SER44PHE 131 131 ASN LYS ROUSSY-LEVY SYNDROME MPZ - ASN131LYS 74 74 GLY GLU CHARCOT-MARIE-TOOTH DISEASE - TYPE 1B MPZ - GLY74GLU 49 49 SER LEU CHARCOT-MARIE-TOOTH DISEASE - TYPE 1B - WITH FOCALLY FOLDED MYELIN SHEATHS MPZ - SER49LEU 62 62 ILE PHE CHARCOT-MARIE-TOOTH DISEASE - TYPE 1B - WITH FOCALLY FOLDED MYELIN SHEATHS MPZ - ILE62PHE 145 145 TYR SER CHARCOT-MARIE-TOOTH DISEASE - TYPE 1B MPZ - TYR145SER 60 60 ASP HIS CHARCOT-MARIE-TOOTH DISEASE - TYPE 2I MPZ - ASP60HIS 62 62 ILE MET CHARCOT-MARIE-TOOTH DISEASE - TYPE 2I MPZ - ILE62MET 97 97 GLU VAL CHARCOT-MARIE-TOOTH DISEASE - TYPE 2J MPZ - GLU97VAL 124 124 THR LYS NEUROPATHY - CONGENITAL HYPOMYELINATING - AUTOSOMAL DOMINANT MPZ - THR124LYS 123 123 GLY SER CHARCOT-MARIE-TOOTH DISEASE - TYPE 1B MPZ - GLY123SER 105 105 PRO THR CHARCOT-MARIE-TOOTH DISEASE - TYPE 2J MPZ - PRO105THR 102 102 VAL VAL CHARCOT-MARIE-TOOTH DISEASE - TYPE 1B MPZ - VAL102VAL 195 195 ASP TYR CHARCOT-MARIE-TOOTH DISEASE - TYPE 1B MPZ - ASP195TYR 257 257 ARG CYS AMEGAKARYOCYTIC THROMBOCYTOPENIA - CONGENITAL MPL - ARG257CYS 635 635 PRO LEU AMEGAKARYOCYTIC THROMBOCYTOPENIA - CONGENITAL MPL - PRO635LEU 102 102 ARG PRO AMEGAKARYOCYTIC THROMBOCYTOPENIA - CONGENITAL MPL - ARG102PRO 275 275 PRO THR AMEGAKARYOCYTIC THROMBOCYTOPENIA - CONGENITAL MPL - PRO275THR 39 39 LYS ASN THROMBOCYTHEMIA - SUSCEPTIBILITY TO MPL - LYS39ASN 505 505 SER ASN THROMBOCYTHEMIA - ESSENTIAL - AUTOSOMAL DOMINANT MPL - SER505ASN 515 515 TRP LEU MYELOFIBROSIS WITH MYELOID METAPLASIA - SOMATIC THROMBOCYTHEMIA - ESSENTIAL - SOMATIC - INCLUDED MPL - TRP515LEU 515 515 TRP LYS MYELOFIBROSIS WITH MYELOID METAPLASIA - SOMATIC MPL - TRP515LYS 112 112 ALA SER MYOPATHY - CENTRONUCLEAR - MILD BECKER MUSCULAR DYSTROPHY - INCLUDED MYF6 - ALA112SER 795 795 ARG GLN CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 14 MYH6 - ARG795GLN 820 820 ILE ASN ATRIAL SEPTAL DEFECT 3 MYH6 - ILE820ASN 1065 1065 GLN HIS CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 14 MYH6 - GLN1065HIS 830 830 PRO LEU CARDIOMYOPATHY - DILATED - 1EE MYH6 - PRO830LEU 1004 1004 ALA SER CARDIOMYOPATHY - DILATED - 1EE MYH6 - ALA1004SER 1457 1457 GLU LYS CARDIOMYOPATHY - DILATED - 1EE MYH6 - GLU1457LYS 672 672 ARG HIS ARTHROGRYPOSIS - DISTAL - TYPE 2A MYH3 - ARG672HIS 672 672 ARG CYS ARTHROGRYPOSIS - DISTAL - TYPE 2A MYH3 - ARG672CYS 178 178 THR ILE ARTHROGRYPOSIS - DISTAL - TYPE 2A ARTHROGRYPOSIS - DISTAL - TYPE 2B - INCLUDED MYH3 - THR178ILE 825 825 VAL ASP ARTHROGRYPOSIS - DISTAL - TYPE 2A MYH3 - VAL825ASP 375 375 GLU LYS ARTHROGRYPOSIS - DISTAL - TYPE 2B MYH3 - GLU375LYS 462 462 ASP GLY ARTHROGRYPOSIS - DISTAL - TYPE 2B MYH3 - ASP462GLY 234 234 ALA THR ARTHROGRYPOSIS - DISTAL - TYPE 2B MYH3 - ALA234THR 706 706 GLU LYS INCLUSION BODY MYOPATHY 3 MYH2 - GLU706LYS 674 674 ARG GLN CARNEY COMPLEX VARIANT TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME - INCLUDED MYH8 - ARG674GLN 1758 1758 ARG GLN AORTIC ANEURYSM - FAMILIAL THORACIC 4 MYH11 - IVS32 - G-T - +1 - ARG1758GLN 1264 1264 LEU PRO AORTIC ANEURYSM - FAMILIAL THORACIC 4 MYH11 - LEU1264PRO 1275 1275 ARG LEU AORTIC ANEURYSM - FAMILIAL THORACIC 4 MYH11 - ARG1275LEU 712 712 ARG GLN AORTIC ANEURYSM - FAMILIAL THORACIC 4 MYH11 - ARG712GLN 403 403 ARG GLN CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 MYH7 - ARG403GLN 249 249 ARG GLN CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 MYH7 - ARG249GLN 453 453 ARG CYS CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 MYH7 - ARG453CYS 584 584 GLY ARG CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 MYH7 - GLY584ARG 606 606 VAL MET CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 MYH7 - VAL606MET 924 924 GLU LYS CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 MYH7 - GLU924LYS 949 949 GLU LYS CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 MYH7 - GLU949LYS 723 723 ARG CYS CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 MYH7 - ARG723CYS 908 908 LEU VAL CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 MYH7 - LEU908VAL 741 741 GLY ARG CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 MYH7 - GLY741ARG 256 256 GLY GLU CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 MYH7 - GLY256GLU 778 778 ASP GLY CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 MYH7 - ASP778GLY 403 403 ARG LEU CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 MYH7 - ARG403LEU 403 403 ARG TRP CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 MYH7 - ARG403TRP 513 513 PHE CYS CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 MYH7 - PHE513CYS 719 719 ARG TRP CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 MYH7 - ARG719TRP 716 716 GLY ARG CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 MYH7 - GLY716ARG 935 935 GLU LYS CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 MYH7 - GLU935LYS 349 349 MET THR CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 MYH7 - MET349THR 719 719 ARG GLN CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 MYH7 - ARG719GLN 532 532 SER PRO CARDIOMYOPATHY - DILATED - 1S MYH7 - SER532PRO 764 764 PHE LEU CARDIOMYOPATHY - DILATED - 1S MYH7 - PHE764LEU 743 743 GLU ASP CARDIOMYOPATHY - HYPERTROPHIC - MIDVENTRICULAR - DIGENIC MYH7 - GLU743ASP 728 728 ALA VAL CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 MYH7 - ALA728VAL 223 223 ALA THR CARDIOMYOPATHY - DILATED - 1S MYH7 - ALA223THR 642 642 SER LEU CARDIOMYOPATHY - DILATED - 1S MYH7 - SER642LEU 1845 1845 ARG TRP MYOPATHY - MYOSIN STORAGE SCAPULOPERONEAL MYOPATHY - MYH7-RELATED - INCLUDED MYH7 - ARG1845TRP 1500 1500 ARG PRO LAING DISTAL MYOPATHY MYH7 - ARG1500PRO 1904 1904 HIS LEU MYOPATHY - MYOSIN STORAGE MYH7 - HIS1904LEU 1712 1712 ARG TRP CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 MYH7 - ARG1712TRP 483 483 GLU LYS CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 MYH7 - GLU483LYS 870 870 ARG HIS CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 MYH7 - ARG870HIS 1883 1883 GLU LYS CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 MYOPATHY - MYOSIN STORAGE - INCLUDED MYH7 - GLU1883LYS 441 441 THR MET LAING DISTAL MYOPATHY MYH7 - THR441MET 1793 1793 LEU PRO MYOPATHY - MYOSIN STORAGE CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 - INCLUDED;; LEFT VENTRICULAR NONCOMPACTION 5 - INCLUDED MYH7 - LEU1793PRO 497 497 GLU ASP CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 MYH7 - GLU497ASP 906 906 ASP GLY CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 MYH7 - ASP906GLY 243 243 ARG HIS CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 LEFT VENTRICULAR NONCOMPACTION 5 - INCLUDED MYH7 - ARG243HIS 1766 1766 ALA THR LEFT VENTRICULAR NONCOMPACTION 5 MYH7 - ALA1766THR 453 453 ARG SER CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 MYH7 - ARG453SER 1841 1841 GLU LYS MAY-HEGGLIN ANOMALY FECHTNER SYNDROME - INCLUDED MYH9 - GLU1841LYS 1165 1165 ARG CYS SEBASTIAN SYNDROME MYH9 - ARG1165CYS 93 93 ASN LYS MAY-HEGGLIN ANOMALY MYH9 - ASN93LYS 1424 1424 ASP HIS FECHTNER SYNDROME MYH9 - ASP1424HIS 702 702 ARG CYS FECHTNER SYNDROME EPSTEIN SYNDROME - INCLUDED;; SEBASTIAN SYNDROME - INCLUDED;; MAY-HEGGLIN ANOMALY - INCLUDED MYH9 - ARG702CYS 1155 1155 THR ILE MAY-HEGGLIN ANOMALY FECHTNER SYNDROME - INCLUDED MYH9 - THR1155ILE 705 705 ARG HIS DEAFNESS - AUTOSOMAL DOMINANT 17 MYH9 - ARG705HIS 702 702 ARG HIS FECHTNER SYNDROME EPSTEIN SYNDROME - INCLUDED MYH9 - ARG702HIS 1424 1424 ASP ASN MAY-HEGGLIN ANOMALY FECHTNER SYNDROME - INCLUDED;; MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS - INCLUDED;; SEBASTIAN SYNDROME - INCLUDED MYH9 - ASP1424ASN 96 96 SER LEU EPSTEIN SYNDROME MYH9 - SER96LEU 13 13 ALA THR CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 10 MYL2 - ALA13THR 22 22 GLU LYS CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 10 MYL2 - GLU22LYS 94 94 PRO ARG CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 10 MYL2 - PRO94ARG 58 58 ARG GLN CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 10 MYL2 - ARG58GLN 18 18 PHE LEU CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 10 MYL2 - PHE18LEU 149 149 MET VAL CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 8 MYL3 - MET149VAL 154 154 ARG HIS CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 8 MYL3 - ARG154HIS 143 143 GLU LYS CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 8 MYL3 - GLU143LYS 423 423 THR MET MITOCHONDRIAL COMPLEX I DEFICIENCY NDUFV1 - THR423MET 341 341 ALA VAL MITOCHONDRIAL COMPLEX I DEFICIENCY NDUFV1 - ALA341VAL 214 214 GLU LYS MITOCHONDRIAL COMPLEX I DEFICIENCY NDUFV1 - GLU214LYS 211 211 ARG TRP NEUROPATHY - HEREDITARY SENSORY AND AUTONOMIC - TYPE V NGFB - ARG211TRP 50 50 SER THR RETINITIS PIGMENTOSA 27 NRL - SER50THR 160 160 LEU PRO RETINAL DEGENERATION - AUTOSOMAL RECESSIVE - CLUMPED PIGMENT TYPE NRL - LEU160PRO 483 483 GLY ARG PROPROTEIN CONVERTASE 1/3 DEFICIENCY PCSK1 - GLY483ARG 221 221 ASN ASP OBESITY - SUSCEPTIBILITY TO PCSK1 - ASN221ASP 307 307 SER LEU PROPROTEIN CONVERTASE 1/3 DEFICIENCY PCSK1 - SER307LEU 333 333 GLN PRO CHARCOT-MARIE-TOOTH DISEASE - AXONAL - TYPE 2E NEFL - GLN333PRO 22 22 PRO SER CHARCOT-MARIE-TOOTH DISEASE - AXONAL - TYPE 2E NEFL - PRO22SER 8 8 PRO ARG CHARCOT-MARIE-TOOTH DISEASE - AXONAL - TYPE 2E CHARCOT-MARIE-TOOTH DISEASE - TYPE 1F - INCLUDED NEFL - PRO8ARG 94 94 LEU PRO CHARCOT-MARIE-TOOTH DISEASE - AXONAL - TYPE 2E NEFL - LEU94PRO 90 90 MET THR HYPOGONADOTROPIC HYPOGONADISM TAC3 - MET90THR 93 93 GLY ASP HYPOGONADOTROPIC HYPOGONADISM TACR3 - GLY93ASP 353 353 PRO SER HYPOGONADOTROPIC HYPOGONADISM TACR3 - PRO353SER 7 7 LEU PRO NEUROPEPTIDE Y POLYMORPHISM NPY - LEU7PRO 88 88 ALA VAL GLAUCOMA 1 - OPEN ANGLE - O NTF4 - ALA88VAL 206 206 ARG TRP GLAUCOMA 1 - OPEN ANGLE - O NTF4 - ARG206TRP 206 206 ARG GLN GLAUCOMA 1 - OPEN ANGLE - O NTF4 - ARG206GLN 298 298 GLU ASP CORONARY ARTERY SPASM 1 - SUSCEPTIBILITY TO ALZHEIMER DISEASE - LATE-ONSET - SUSCEPTIBILITY TO - INCLUDED;; HYPERTENSION - PREGNANCY-INDUCED - SUSCEPTIBILITY TO - INCLUDED;; HYPERTENSION RESISTANT TO CONVENTIONAL THERAPY - INCLUDED;; ISCHEMIC HEART DISEASE - SUSCEPTIBILITY TO - INCLUDED;; ISCHEMIC STROKE - SUSCEPTIBILITY TO - INCLUDED NOS3 - GLU298ASP 53 53 ALA THR PARKINSON DISEASE 1 - AUTOSOMAL DOMINANT SNCA - ALA53THR 30 30 ALA PRO PARKINSON DISEASE 1 - AUTOSOMAL DOMINANT SNCA - ALA30PRO 46 46 GLU LYS DEMENTIA - LEWY BODY SNCA - GLU46LYS 457 457 ALA PRO ORTHOSTATIC INTOLERANCE SLC6A2 - ALA457PRO 32 32 SER ILE ECTODERMAL DYSPLASIA - ANHIDROTIC - WITH T-CELL IMMUNODEFICIENCY - AUTOSOMAL DOMINANT NFKBIA - SER32ILE 85 85 SER CYS MYOPATHY - DISTAL 2 MATR3 - SER85CYS 89 89 GLU LYS NUCLEOSIDE PHOSPHORYLASE DEFICIENCY PNP - GLU89LYS 174 174 ALA PRO NUCLEOSIDE PHOSPHORYLASE DEFICIENCY PNP - ALA174PRO 128 128 ASP GLY NUCLEOSIDE PHOSPHORYLASE DEFICIENCY PNP - ASP128GLY 234 234 ARG PRO NUCLEOSIDE PHOSPHORYLASE DEFICIENCY PNP - ARG234PRO 51 51 SER GLY NUCLEOSIDE PHOSPHORYLASE POLYMORPHISM PNP - SER51GLY 192 192 TYR CYS NUCLEOSIDE PHOSPHORYLASE DEFICIENCY PNP - TYR192CYS 105 105 ARG TRP OBESITY - MORBID - WITH HYPOGONADISM LEP - ARG105TRP 162 162 SER GLY DIABETES MELLITUS - TYPE 1 - SUSCEPTIBILITY TO OAS1 - SER162GLY 17 17 GLU LYS BREAST CANCER - SOMATIC COLORECTAL CANCER - SOMATIC - INCLUDED;; OVARIAN CANCER - SOMATIC - INCLUDED AKT1 - GLU17LYS 274 274 ARG HIS DIABETES MELLITUS - TYPE II AKT2 - ARG274HIS 600 600 VAL GLU MELANOMA - MALIGNANT - SOMATIC COLORECTAL CANCER - SOMATIC - INCLUDED;; THYROID CARCINOMA - PAPILLARY - SOMATIC - INCLUDED;; ASTROCYTOMA - LOW-GRADE - SOMATIC - INCLUDED BRAF - VAL600GLU 462 462 ARG ILE COLON CANCER - SOMATIC BRAF - ARG462ILE 463 463 ILE SER COLORECTAL CANCER - SOMATIC BRAF - ILE463SER 464 464 GLY GLU COLORECTAL CANCER - SOMATIC BRAF - GLY464GLU 601 601 LYS GLU COLORECTAL CANCER - SOMATIC THYROID CARCINOMA - FOLLICULAR - SOMATIC - INCLUDED BRAF - LYS601GLU 466 466 GLY VAL ADENOCARCINOMA OF LUNG - SOMATIC BRAF - GLY466VAL 597 597 LEU ARG ADENOCARCINOMA OF LUNG - SOMATIC BRAF - LEU597ARG 597 597 LEU VAL NONSMALL CELL LUNG CANCER - SOMATIC BRAF - LEU597VAL 469 469 GLY ARG LYMPHOMA - NON-HODGKIN - SOMATIC BRAF - GLY469ARG 469 469 GLY ALA LYMPHOMA - NON-HODGKIN - SOMATIC BRAF - GLY469ALA 594 594 ASP GLY LYMPHOMA - NON-HODGKIN - SOMATIC BRAF - ASP594GLY 246 246 ALA PRO CARDIOFACIOCUTANEOUS SYNDROME BRAF - ALA246PRO 257 257 GLN ARG CARDIOFACIOCUTANEOUS SYNDROME BRAF - GLN257ARG 469 469 GLY GLU CARDIOFACIOCUTANEOUS SYNDROME BRAF - GLY469GLU 485 485 LEU PHE CARDIOFACIOCUTANEOUS SYNDROME BRAF - LEU485PHE 499 499 LYS GLU CARDIOFACIOCUTANEOUS SYNDROME BRAF - LYS499GLU 501 501 GLU LYS CARDIOFACIOCUTANEOUS SYNDROME BRAF - GLU501LYS 501 501 GLU GLY CARDIOFACIOCUTANEOUS SYNDROME BRAF - GLU501GLY 581 581 ASN ASP CARDIOFACIOCUTANEOUS SYNDROME BRAF - ASN581ASP 534 534 GLY ARG CARDIOFACIOCUTANEOUS SYNDROME BRAF - GLY534ARG 638 638 ASP GLU CARDIOFACIOCUTANEOUS SYNDROME BRAF - ASP638GLU 241 241 THR MET NOONAN SYNDROME 7 BRAF - THR241MET 241 241 THR ARG NOONAN SYNDROME 7 BRAF - THR241ARG 241 241 THR PRO CARDIOFACIOCUTANEOUS SYNDROME LEOPARD SYNDROME 3 - INCLUDED BRAF - THR241PRO 531 531 TRP CYS NOONAN SYNDROME 7 BRAF - TRP531CYS 597 597 LEU VAL NOONAN SYNDROME 7 BRAF - LEU597VAL 257 257 SER LEU NOONAN SYNDROME 5 LEOPARD SYNDROME 2 - INCLUDED RAF1 - SER257LEU 261 261 PRO SER NOONAN SYNDROME 5 RAF1 - PRO261SER 491 491 THR ARG NOONAN SYNDROME 5 RAF1 - THR491ARG 613 613 LEU VAL LEOPARD SYNDROME 2 NOONAN SYNDROME 5 - INCLUDED RAF1 - LEU613VAL 618 618 CYS GLY MULTIPLE ENDOCRINE NEOPLASIA - TYPE IIA RET - CYS618GLY 378 378 GLU ASP MULTIPLE ENDOCRINE NEOPLASIA - TYPE IIA RET - GLU378ASP - LEU379VAL - CYS380ARG 379 379 LEU VAL MULTIPLE ENDOCRINE NEOPLASIA - TYPE IIA RET - GLU378ASP - LEU379VAL - CYS380ARG 380 380 CYS ARG MULTIPLE ENDOCRINE NEOPLASIA - TYPE IIA RET - GLU378ASP - LEU379VAL - CYS380ARG 634 634 CYS GLY MULTIPLE ENDOCRINE NEOPLASIA - TYPE IIA - WITH CUTANEOUS LICHEN AMYLOIDOSIS PHEOCHROMOCYTOMA - INCLUDED RET - CYS634GLY 634 634 CYS TYR MULTIPLE ENDOCRINE NEOPLASIA - TYPE IIA PHEOCHROMOCYTOMA - INCLUDED RET - CYS634TYR 634 634 CYS SER MULTIPLE ENDOCRINE NEOPLASIA - TYPE IIA PHEOCHROMOCYTOMA - INCLUDED RET - CYS634SER 634 634 CYS PHE MULTIPLE ENDOCRINE NEOPLASIA - TYPE IIA THYROID CARCINOMA - FAMILIAL MEDULLARY - INCLUDED;; PHEOCHROMOCYTOMA - INCLUDED RET - CYS634PHE 611 611 CYS TRP MULTIPLE ENDOCRINE NEOPLASIA - TYPE IIA RET - CYS611TRP 618 618 CYS SER MULTIPLE ENDOCRINE NEOPLASIA - TYPE IIA THYROID CARCINOMA - FAMILIAL MEDULLARY - INCLUDED RET - CYS618SER 620 620 CYS ARG MULTIPLE ENDOCRINE NEOPLASIA - TYPE IIA RET - CYS620ARG 620 620 CYS TYR MULTIPLE ENDOCRINE NEOPLASIA - TYPE IIA RET - CYS620TYR 634 634 CYS ARG MULTIPLE ENDOCRINE NEOPLASIA - TYPE IIA PHEOCHROMOCYTOMA - INCLUDED RET - CYS634ARG 634 634 CYS TRP MULTIPLE ENDOCRINE NEOPLASIA - TYPE IIA PHEOCHROMOCYTOMA - INCLUDED RET - CYS634TRP 918 918 MET THR MULTIPLE ENDOCRINE NEOPLASIA - TYPE IIB THYROID CARCINOMA - SPORADIC MEDULLARY - INCLUDED;; PHEOCHROMOCYTOMA - SOMATIC - INCLUDED;; RENAL AGENESIS - INCLUDED RET - MET918THR 765 765 SER PRO HIRSCHSPRUNG DISEASE - SUSCEPTIBILITY TO - 1 RET - SER765PRO 897 897 ARG GLN HIRSCHSPRUNG DISEASE - SUSCEPTIBILITY TO - 1 RET - ARG897GLN 972 972 ARG GLY HIRSCHSPRUNG DISEASE - SUSCEPTIBILITY TO - 1 RET - ARG972GLY 32 32 SER LEU HIRSCHSPRUNG DISEASE - SUSCEPTIBILITY TO - 1 RET - SER32LEU 64 64 PRO LEU HIRSCHSPRUNG DISEASE - SUSCEPTIBILITY TO - 1 RET - PRO64LEU 330 330 ARG GLN HIRSCHSPRUNG DISEASE - SUSCEPTIBILITY TO - 1 RET - ARG330GLN 393 393 PHE LEU HIRSCHSPRUNG DISEASE - SUSCEPTIBILITY TO - 1 RET - PHE393LEU 620 620 CYS PHE MULTIPLE ENDOCRINE NEOPLASIA - TYPE IIA RET - CYS620PHE 618 618 CYS ARG THYROID CARCINOMA - FAMILIAL MEDULLARY RET - CYS618ARG 768 768 GLU ASP THYROID CARCINOMA - FAMILIAL MEDULLARY RET - GLU768ASP 313 313 ARG GLN HIRSCHSPRUNG DISEASE - SUSCEPTIBILITY TO - 1 RET - ARG313GLN 609 609 CYS TYR MULTIPLE ENDOCRINE NEOPLASIA - TYPE IIA - WITH HIRSCHSPRUNG DISEASE RET - CYS609TYR 620 620 CYS TRP MULTIPLE ENDOCRINE NEOPLASIA - TYPE IIA - WITH HIRSCHSPRUNG DISEASE RET - CYS620TRP 790 790 LEU PHE MULTIPLE ENDOCRINE NEOPLASIA - TYPE IIA THYROID CARCINOMA - FAMILIAL MEDULLARY - INCLUDED RET - LEU790PHE 791 791 TYR PHE THYROID CARCINOMA - FAMILIAL MEDULLARY PHEOCHROMOCYTOMA - INCLUDED RET - TYR791PHE 231 231 ARG HIS HIRSCHSPRUNG DISEASE - SUSCEPTIBILITY TO - 1 RET - ARG231HIS 982 982 ARG CYS HIRSCHSPRUNG DISEASE - SUSCEPTIBILITY TO - 1 RET - ARG982CYS 647 647 ILE ILE HIRSCHSPRUNG DISEASE - SUSCEPTIBILITY TO - 1 RET - ILE647ILE - 1941C-T 45 45 ALA ALA HIRSCHSPRUNG DISEASE - SUSCEPTIBILITY TO - 1 RET - ALA45ALA 640 640 ALA GLY MULTIPLE ENDOCRINE NEOPLASIA - TYPE IIA RET - ALA640GLY 620 620 CYS SER THYROID CARCINOMA - FAMILIAL MEDULLARY RET - CYS620SER 609 609 CYS ARG THYROID CARCINOMA - FAMILIAL MEDULLARY RET - CYS609ARG 804 804 VAL MET MULTIPLE ENDOCRINE NEOPLASIA - TYPE IIB RET - VAL804MET - SER904CYS 904 904 SER CYS MULTIPLE ENDOCRINE NEOPLASIA - TYPE IIB RET - VAL804MET - SER904CYS 804 804 VAL LEU THYROID CARCINOMA - FAMILIAL MEDULLARY RET - VAL804LEU 114 114 ARG HIS CENTRAL HYPOVENTILATION SYNDROME - CONGENITAL RET - ARG114HIS 1039 1039 PRO LEU CENTRAL HYPOVENTILATION SYNDROME - CONGENITAL - WITH HIRSCHSPRUNG DISEASE RET - PRO1039LEU 648 648 VAL ILE MULTIPLE ENDOCRINE NEOPLASIA - TYPE IIA RET - VAL648ILE 533 533 GLY CYS THYROID CARCINOMA - FAMILIAL MEDULLARY RET - GLY533CYS 891 891 SER ALA MULTIPLE ENDOCRINE NEOPLASIA - TYPE IIA THYROID CARCINOMA - FAMILIAL MEDULLARY - INCLUDED RET - SER891ALA 912 912 PRO ARG THYROID CARCINOMA - FAMILIAL MEDULLARY RET - PRO912ARG 778 778 VAL ILE RENAL AGENESIS RET - VAL778ILE 198 198 PRO THR RENAL AGENESIS RET - PRO198THR 13 13 GLY ARG RECTAL CANCER - SOMATIC NRAS - GLY13ARG 61 61 GLN ARG THYROID CARCINOMA - FOLLICULAR - SOMATIC NRAS - GLN61ARG 13 13 GLY ASP AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME - TYPE IV NRAS - GLY13ASP 50 50 THR ILE NOONAN SYNDROME 6 NRAS - THR50ILE 60 60 GLY GLU NOONAN SYNDROME 6 NRAS - GLY60GLU 393 393 ARG HIS FEINGOLD SYNDROME MYCN - ARG393HIS 393 393 ARG SER FEINGOLD SYNDROME MYCN - ARG393SER 394 394 ARG HIS FEINGOLD SYNDROME MYCN - ARG394HIS 382 382 ARG HIS FEINGOLD SYNDROME MYCN - ARG382HIS 1149 1131 MET THR RENAL CELL CARCINOMA - PAPILLARY MET - MET1149THR 1206 1188 VAL LEU RENAL CELL CARCINOMA - PAPILLARY MET - VAL1206LEU 1238 1220 VAL ILE RENAL CELL CARCINOMA - PAPILLARY MET - VAL1238ILE 1246 1228 ASP ASN RENAL CELL CARCINOMA - PAPILLARY MET - ASP1246ASN 1248 1230 TYR CYS RENAL CELL CARCINOMA - PAPILLARY MET - TYR1248CYS 1213 1195 LEU VAL RENAL CELL CARCINOMA - PAPILLARY - SOMATIC MET - LEU1213VAL 1112 1094 HIS ARG RENAL CELL CARCINOMA - PAPILLARY MET - HIS1112ARG 1191 1173 THR ILE HEPATOCELLULAR CARCINOMA - CHILDHOOD TYPE - SOMATIC MET - THR1191ILE 1268 1250 MET ILE HEPATOCELLULAR CARCINOMA - CHILDHOOD TYPE - SOMATIC MET - MET1268ILE 1262 1244 LYS ARG HEPATOCELLULAR CARCINOMA - CHILDHOOD TYPE - SOMATIC MET - LYS1262ARG 655 655 VAL ILE ERBB2 POLYMORPHISM ERBB2 - VAL655ILE 654 654 VAL ILE ERBB2 POLYMORPHISM ERBB2 - VAL654ILE 755 755 LEU PRO ADENOCARCINOMA OF LUNG - SOMATIC ERBB2 - LEU755PRO 914 914 GLU LYS GLIOBLASTOMA - SOMATIC ERBB2 - GLU914LYS 776 776 GLY SER GASTRIC CANCER - SOMATIC ERBB2 - GLY776SER 857 857 ASN SER OVARIAN CANCER - SOMATIC ERBB2 - ASN857SER 215 215 PHE LEU RETT SYNDROME - CONGENITAL VARIANT FOXG1 - PHE215LEU 664 664 GLY ARG PIEBALDISM KIT - GLY664ARG 584 584 PHE LEU PIEBALDISM KIT - PHE584LEU 583 583 GLU LYS PIEBALDISM KIT - GLU583LYS 816 816 ASP VAL MAST CELL LEUKEMIA MASTOCYTOSIS WITH ASSOCIATED HEMATOLOGIC DISORDER - INCLUDED;; MASTOCYTOSIS - ADULT SPORADIC - INCLUDED KIT - ASP816VAL 820 820 ASP GLY MAST CELL DISEASE - SYSTEMIC KIT - ASP820GLY 550 550 LYS ILE GASTROINTESTINAL STROMAL TUMOR - SOMATIC KIT - 15-BP DEL/LYS550ILE 559 559 VAL ASP GASTROINTESTINAL STROMAL TUMOR - SOMATIC KIT - VAL559ASP 796 796 ARG GLY PIEBALDISM WITH SENSORINEURAL DEAFNESS KIT - ARG796GLY 816 816 ASP TYR LEUKEMIA - ACUTE MYELOID KIT - ASP816TYR 847 847 THR PRO PIEBALDISM KIT - THR847PRO 839 839 GLU LYS MASTOCYTOSIS - SPORADIC - CHILDHOOD-ONSET KIT - GLU839LYS 816 816 ASP HIS GERM CELL TUMOR KIT - ASP816HIS 584 584 PHE CYS PIEBALDISM KIT - PHE584CYS 559 559 VAL ALA GASTROINTESTINAL STROMAL TUMOR - FAMILIAL KIT - VAL559ALA 642 642 LYS GLU GASTROINTESTINAL STROMAL TUMOR - FAMILIAL KIT - LYS642GLU 156 156 SER PRO DEAFNESS - CONGENITAL - WITH INNER EAR AGENESIS - MICROTIA - AND MICRODONTIA FGF3 - SER156PRO 66 66 GLY CYS DEAFNESS - CONGENITAL - WITH INNER EAR AGENESIS - MICROTIA - AND MICRODONTIA FGF3 - GLY66CYS 6 6 LEU PRO DEAFNESS - CONGENITAL - WITH INNER EAR AGENESIS - MICROTIA - AND MICRODONTIA FGF3 - LEU6PRO 151 151 ARG GLY HOLOPROSENCEPHALY 9 GLI2 - ARG151GLY 727 727 GLY ARG POSTAXIAL POLYDACTYLY - TYPE A1/B GLI3 - GLY727ARG 625 625 ARG TRP GREIG CEPHALOPOLYSYNDACTYLY SYNDROME GLI3 - ARG625TRP 934 934 ALA PRO ACROCALLOSAL SYNDROME GLI3 - 2800G-C - ALA934PRO 707 707 PRO SER GREIG CEPHALOPOLYSYNDACTYLY SYNDROME GLI3 - PRO707SER 367 367 GLN PRO NOONAN SYNDROME-LIKE DISORDER CBL - GLN367PRO 382 382 LYS GLU NOONAN SYNDROME-LIKE DISORDER CBL - LYS382GLU 390 390 ASP TYR NOONAN SYNDROME-LIKE DISORDER CBL - ASP390TYR 420 420 ARG GLN NOONAN SYNDROME-LIKE DISORDER CBL - ARG420GLN 371 371 TYR HIS NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA CBL - TYR371HIS 76 76 GLY SER PAPILLORENAL SYNDROME PAX2 - GLY76SER 71 71 ARG THR PAPILLORENAL SYNDROME WITH MACULAR ABNORMALITIES PAX2 - ARG71THR 121 121 ARG TRP DIABETES MELLITUS - TYPE 2 PAX4 - ARG121TRP 133 133 ARG TRP DIABETES MELLITUS - KETOSIS-PRONE - SUSCEPTIBILITY TO PAX4 - ARG133TRP 37 37 ARG TRP DIABETES MELLITUS - KETOSIS-PRONE - SUSCEPTIBILITY TO PAX4 - ARG37TRP 64 64 ARG TRP MATURITY-ONSET DIABETES OF THE YOUNG - TYPE 9 PAX4 - ARG64TRP 329 329 PHE LEU PAX8 POLYMORPHISM PAX8 - PHE329LEU 31 31 ARG HIS HYPOTHYROIDISM - CONGENITAL - NONGOITROUS - 2 PAX8 - ARG31HIS 62 62 LEU ARG HYPOTHYROIDISM - CONGENITAL - NONGOITROUS - 2 PAX8 - LEU62ARG 57 57 CYS TYR HYPOTHYROIDISM - CONGENITAL - NONGOITROUS - 2 PAX8 - CYS57TYR 54 54 SER GLY HYPOTHYROIDISM - CONGENITAL - NONGOITROUS - 2 PAX8 - SER54GLY 40 40 GLN PRO HYPOTHYROIDISM - CONGENITAL - NONGOITROUS - 2 PAX8 - GLN40PRO 48 48 SER PHE HYPOTHYROIDISM - CONGENITAL - NONGOITROUS - 2 PAX8 - SER48PHE 91 91 LYS GLU TOOTH AGENESIS - SELECTIVE - 3 PAX9 - LYS91GLU 21 21 LEU PRO TOOTH AGENESIS - SELECTIVE - 3 PAX9 - LEU21PRO 28 28 ARG PRO TOOTH AGENESIS - SELECTIVE - 3 PAX9 - ARG28PRO 26 26 ARG TRP TOOTH AGENESIS - SELECTIVE - 3 PAX9 - ARG26TRP 87 87 ILE PHE TOOTH AGENESIS - SELECTIVE - 3 PAX9 - ILE87PHE 51 51 GLY SER TOOTH AGENESIS - SELECTIVE - 3 PAX9 - GLY51SER 47 47 ARG TRP TOOTH AGENESIS - SELECTIVE - 3 PAX9 - ARG47TRP 34 34 ASN SER PANCREATITIS - CHRONIC - SUSCEPTIBILITY TO TROPICAL CALCIFIC PANCREATITIS - INCLUDED;; FIBROCALCULOUS PANCREATIC DIABETES - SUSCEPTIBILITY TO - INCLUDED SPINK1 - ASN34SER 1 1 MET THR PANCREATITIS - CHRONIC SPINK1 - MET1THR 14 14 LEU PRO PANCREATITIS - CHRONIC SPINK1 - LEU14PRO 14 14 LEU ARG PANCREATITIS - CHRONIC SPINK1 - LEU14ARG 18 18 CYS ARG HYPOPARATHYROIDISM - FAMILIAL ISOLATED PTH - CYS18ARG 23 23 SER PRO HYPOPARATHYROIDISM - FAMILIAL ISOLATED PTH - SER23PRO 223 223 HIS ARG METAPHYSEAL CHONDRODYSPLASIA - MURK JANSEN TYPE PTH1R - HIS223ARG 410 410 THR PRO METAPHYSEAL CHONDRODYSPLASIA - MURK JANSEN TYPE PTH1R - THR410PRO 383 383 ARG GLN CHONDRODYSPLASIA - BLOMSTRAND TYPE PTH1R - ARG383GLN - 33-BP DEL 132 132 PRO LEU CHONDRODYSPLASIA - BLOMSTRAND TYPE PTH1R - PRO132LEU 458 458 ILE ARG METAPHYSEAL CHONDRODYSPLASIA - MURK JANSEN TYPE PTH1R - ILE458ARG 410 410 THR ARG METAPHYSEAL CHONDRODYSPLASIA - MURK JANSEN TYPE PTH1R - THR410ARG 60 60 LEU PRO BRACHYDACTYLY - TYPE E2 PTHLH - LEU60PRO 44 44 LEU PRO BRACHYDACTYLY - TYPE E2 PTHLH - LEU44PRO 192 192 GLN ARG PON1 ENZYME ACTIVITY - VARIATION IN CORONARY ARTERY DISEASE - SUSCEPTIBILITY TO - INCLUDED;; CORONARY ARTERY SPASM 2 - SUSCEPTIBILITY TO - INCLUDED PON1 - GLN192ARG 55 55 LEU MET PON1 ENZYME ACTIVITY - VARIATION IN CORONARY ARTERY DISEASE - SUSCEPTIBILITY TO - INCLUDED;; MICROVASCULAR COMPLICATIONS OF DIABETES - SUSCEPTIBILITY TO - 5 - INCLUDED PON1 - LEU55MET 15 15 ARG CYS PRB3S(CYS) PRB3 - ARG15CYS 333 393 ILE VAL PEPTIDE TRANSPORTER PSF1 POLYMORPHISM TAP1 - ILE333VAL 637 697 ASP GLY PEPTIDE TRANSPORTER PSF1 POLYMORPHISM TAP1 - ASP637GLY 659 719 ARG GLN TAP1 DEFICIENCY - SOMATIC TAP1 - ARG659GLN 379 379 ILE VAL PEPTIDE TRANSPORTER PSF2 POLYMORPHISM TAP2 - ILE379VAL 665 665 ALA THR PEPTIDE TRANSPORTER PSF2 POLYMORPHISM TAP2 - ALA665THR 225 225 ARG TRP HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS - FAMILIAL - 2 PRF1 - ARG225TRP 429 429 GLY GLU HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS - FAMILIAL - 2 PRF1 - GLY429GLU 345 345 PRO LEU HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS - FAMILIAL - 2 PRF1 - PRO345LEU 279 279 CYS TYR HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS - FAMILIAL - 2 PRF1 - CYS279TYR 183 183 VAL GLY HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS - FAMILIAL - 2 PRF1 - VAL183GLY 252 252 ASN SER HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS - FAMILIAL - 2 LYMPHOMA - NON-HODGKIN - INCLUDED PRF1 - ASN252SER 435 435 THR MET HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS - FAMILIAL - 2 PRF1 - THR435MET 91 91 ALA VAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS - FAMILIAL - 2 - SUSCEPTIBILITY TO LYMPHOMA - NON-HODGKIN - SUSCEPTIBILITY TO - INCLUDED;; APLASTIC ANEMIA - SUSCEPTIBILITY TO - INCLUDED PRF1 - ALA91VAL 388 388 SER ILE APLASTIC ANEMIA PRF1 - SER388ILE 4 4 ARG HIS APLASTIC ANEMIA PRF1 - ARG4HIS 141 141 ASP TYR AMYOTROPHIC LATERAL SCLEROSIS - SUSCEPTIBILITY TO PRPH - ASP141TYR 55 55 GLU LYS REFSUM DISEASE - INFANTILE FORM PEX2 - GLU55LYS 17 17 GLY ASP ZELLWEGER SYNDROME 2 ABCD3 - GLY17ASP 162 162 LEU VAL HYPERAPOBETALIPOPROTEINEMIA - SUSCEPTIBILITY TO PPARA - LEU162VAL 185 420 GLY VAL COLCHICINE RESISTANCE ABCB1 - GLY185VAL 893 1128 ALA SER INFLAMMATORY BOWEL DISEASE 13 - SUSCEPTIBILITY TO ABCB1 - ALA893SER/THR 546 546 ALA ASP CHOLESTASIS - INTRAHEPATIC - OF PREGNANCY ABCB4 - ALA546ASP 320 320 SER PHE GALLBLADDER DISEASE 1 CHOLESTASIS - INTRAHEPATIC - OF PREGNANCY - INCLUDED ABCB4 - SER320PHE 175 175 THR VAL GALLBLADDER DISEASE 1 ABCB4 - THR175VAL 1161 1161 PRO SER GALLBLADDER DISEASE 1 ABCB4 - PRO1161SER 403 403 TYR HIS CHOLESTASIS - PROGRESSIVE FAMILIAL INTRAHEPATIC 3 ABCB4 - TYR403HIS 590 590 ARG GLN CHOLESTASIS - INTRAHEPATIC - OF PREGNANCY ABCB4 - ARG590GLN 105 105 ARG GLN ACID PHOSPHATASE 1 - SOLUBLE - A/B POLYMORPHISM OF ACP1 - ARG105GLN 162 179 ALA THR HYPOPHOSPHATASIA - INFANTILE ALPL - ALA162THR 54 71 ARG CYS HYPOPHOSPHATASIA - INFANTILE ALPL - ARG54CYS 277 294 ASP ALA HYPOPHOSPHATASIA - INFANTILE HYPOPHOSPHATASIA - CHILDHOOD - INCLUDED;; HYPOPHOSPHATASIA - ADULT - INCLUDED ALPL - ASP277ALA 54 71 ARG PRO HYPOPHOSPHATASIA - INFANTILE ALPL - ARG54PRO 190 207 GLN PRO HYPOPHOSPHATASIA - INFANTILE ALPL - GLN190PRO 16 33 ALA VAL HYPOPHOSPHATASIA - INFANTILE ALPL - ALA16VAL 419 436 TYR HIS HYPOPHOSPHATASIA - INFANTILE ALPL - TYR419HIS 174 191 GLU LYS HYPOPHOSPHATASIA - INFANTILE HYPOPHOSPHATASIA - CHILDHOOD - INCLUDED;; HYPOPHOSPHATASIA - ADULT ALPL - GLU174LYS 378 378 ASP VAL HYPOPHOSPHATASIA - INFANTILE HYPOPHOSPHATASIA - ADULT - INCLUDED ALPL - ASP378VAL 317 334 GLY ASP HYPOPHOSPHATASIA - INFANTILE ALPL - GLY317ASP 310 327 PHE LEU HYPOPHOSPHATASIA - INFANTILE ALPL - PHE310LEU 119 136 ARG HIS HYPOPHOSPHATASIA - CHILDHOOD ALPL - ARG119HIS 145 162 GLY VAL HYPOPHOSPHATASIA - CHILDHOOD ALPL - GLY145VAL 99 116 ALA THR HYPOPHOSPHATASIA - CHILDHOOD HYPOPHOSPHATASIA - ADULT - INCLUDED;; ODONTOHYPOPHOSPHATASIA - INCLUDED ALPL - ALA99THR 400 417 ASN SER HYPOPHOSPHATASIA - INFANTILE ALPL - ASN400SER 91 108 PRO LEU ODONTOHYPOPHOSPHATASIA ALPL - PRO91LEU 439 456 GLY ARG HYPOPHOSPHATASIA - INFANTILE ALPL - GLY439ARG 281 298 GLU LYS HYPOPHOSPHATASIA - INFANTILE ALPL - GLU281LYS 232 249 GLY VAL HYPOPHOSPHATASIA - CHILDHOOD ODONTOHYPOPHOSPHATASIA - INCLUDED ALPL - GLY232VAL 176 176 ALA THR HYPOPHOSPHATASIA - INFANTILE HYPOPHOSPHATASIA - CHILDHOOD - INCLUDED ALPL - ALA176THR 272 272 ARG CYS HYPOPHOSPHATASIA - INFANTILE HYPOPHOSPHATASIA - CHILDHOOD - INCLUDED ALPL - ARG272CYS 1047 1047 HIS ARG BREAST CANCER - SOMATIC OVARIAN CANCER - EPITHELIAL - SOMATIC - INCLUDED;; COLORECTAL CANCER - SOMATIC - INCLUDED;; GASTRIC CANCER - SOMATIC - INCLUDED;; HEPATOCELLULAR CARCINOMA - SOMATIC - INCLUDED;; NONSMALL CELL LUNG CANCER - SOMATIC - INCLUDED;; KERATOSIS - SEBORRHEIC - SOMATIC - INCLUDED PIK3CA - HIS1047ARG 1047 1047 HIS LEU BREAST CANCER - SOMATIC PIK3CA - HIS1047LEU 545 545 GLU LYS BREAST CANCER - SOMATIC OVARIAN CANCER - EPITHELIAL - SOMATIC - INCLUDED;; COLORECTAL CANCER - SOMATIC - INCLUDED;; GASTRIC CANCER - SOMATIC - INCLUDED;; NONSMALL CELL LUNG CANCER - SOMATIC - INCLUDED;; KERATOSIS - SEBORRHEIC - SOMATIC - INCLUDED PIK3CA - GLU545LYS 545 545 GLU GLY COLORECTAL CANCER - SOMATIC NEVUS - EPIDERMAL - SOMATIC - INCLUDED PIK3CA - GLU545GLY 546 546 GLN LYS OVARIAN CANCER - EPITHELIAL - SOMATIC COLORECTAL CANCER - SOMATIC - INCLUDED PIK3CA - GLN546LYS 546 546 GLN GLU BREAST CANCER - SOMATIC PIK3CA - GLN546GLU 545 545 GLU ALA HEPATOCELLULAR CARCINOMA - SOMATIC PIK3CA - GLU545ALA 115 115 THR ALA GLYCOGEN STORAGE DISEASE XIV PGM1 - THR115ALA 158 158 GLY SER HEMOLYTIC ANEMIA - NONSPHEROCYTIC - DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY GPI - GLY158SER 346 346 ARG HIS HEMOLYTIC ANEMIA - NONSPHEROCYTIC - DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY GPI - ARG346HIS 524 524 ILE THR HEMOLYTIC ANEMIA - NONSPHEROCYTIC - DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY GPI - ILE524THR 539 539 ASP ASN HEMOLYTIC ANEMIA - NONSPHEROCYTIC - DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY GPI - ASP539ASN 224 224 THR MET HEMOLYTIC ANEMIA - NONSPHEROCYTIC - DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY GPI - THR224MET 20 20 HIS PRO HEMOLYTIC ANEMIA - NONSPHEROCYTIC - AND NEUROLOGIC DEFICITS - DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY GPI - HIS20PRO 339 339 LEU PRO HEMOLYTIC ANEMIA - NONSPHEROCYTIC - AND NEUROLOGIC DEFICITS - DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY GPI - LEU339PRO 343 343 GLN ARG HEMOLYTIC ANEMIA - NONSPHEROCYTIC - DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY GPI - GLN343ARG 5 5 THR ILE HEMOLYTIC ANEMIA - NONSPHEROCYTIC - DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY GPI - THR5ILE 375 375 THR ARG HEMOLYTIC ANEMIA - NONSPHEROCYTIC - DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY GPI - THR375ARG 539 539 ASP ASN HEMOLYTIC ANEMIA - NONSPHEROCYTIC - DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY GPI - ASP539ASN 9 9 ARG CYS CARDIOMYOPATHY - DILATED - 1P PLN - ARG9CYS 293 293 ARG HIS SPINA BIFIDA - FOLATE-SENSITIVE - SUSCEPTIBILITY TO MTHFD1 - ARG293HIS 653 653 ARG GLN NEURAL TUBE DEFECTS - FOLATE-SENSITIVE - SUSCEPTIBILITY TO ABRUPTIO PLACENTAE - SUSCEPTIBILITY TO - INCLUDED MTHFD1 - ARG653GLN 189 189 GLY GLU GLYCOGEN STORAGE DISEASE IXc PHKG2 - GLY189GLU 106 106 VAL GLU GLYCOGEN STORAGE DISEASE IXc PHKG2 - VAL106GLU 144 144 HIS TYR GLYCOGEN STORAGE DISEASE IXc PHKG2 - HIS144TYR 225 225 LEU ARG GLYCOGEN STORAGE DISEASE IXc PHKG2 - LEU225ARG 32 32 ASP ASN PHOSPHOSERINE PHOSPHATASE DEFICIENCY PSPH - ASP32ASN 52 52 MET THR PHOSPHOSERINE PHOSPHATASE DEFICIENCY PSPH - MET52THR 974 975 TYR HIS GLYCOGEN STORAGE DISEASE IXb PHKB - TYR974HIS AND GLU975TER 117 118 ALA PRO GLYCOGEN STORAGE DISEASE IXb PHKB - ALA117PRO 271 271 ARG TRP PITUITARY HORMONE DEFICIENCY - COMBINED - 1 POU1F1 - ARG271TRP 158 158 ALA PRO PITUITARY HORMONE DEFICIENCY - COMBINED - 1 POU1F1 - ALA158PRO 24 24 PRO LEU PITUITARY HORMONE DEFICIENCY - COMBINED - 1 POU1F1 - PRO24LEU 143 143 ARG GLN PITUITARY HORMONE DEFICIENCY - COMBINED - 1 POU1F1 - ARG143GLN 135 135 PHE CYS PITUITARY HORMONE DEFICIENCY - COMBINED - 1 POU1F1 - PHE135CYS 239 239 PRO SER PITUITARY HORMONE DEFICIENCY - COMBINED - 1 POU1F1 - PRO239SER 193 193 TRP ARG PITUITARY HORMONE DEFICIENCY - COMBINED - 1 POU1F1 - TRP193ARG 230 230 GLU LYS PITUITARY HORMONE DEFICIENCY - COMBINED - 1 POU1F1 - GLU230LYS 172 172 ARG GLN PITUITARY HORMONE DEFICIENCY - COMBINED - 1 POU1F1 - ARG172GLN 179 179 SER ARG PITUITARY HORMONE DEFICIENCY - COMBINED - 1 POU1F1 - SER179ARG 774 774 ARG CYS RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE ENPP1 - ARG774CYS 579 579 LEU PHE ARTERIAL CALCIFICATION - GENERALIZED - OF INFANCY ENPP1 - LEU579PHE 121 121 LYS GLN INSULIN RESISTANCE - SUSCEPTIBILITY TO DIABETES MELLITUS - NONINSULIN-DEPENDENT - SUSCEPTIBILITY TO - INCLUDED;; OBESITY - SUSCEPTIBILITY TO - INCLUDED ENPP1 - LYS121GLN 342 342 GLY VAL ARTERIAL CALCIFICATION - GENERALIZED - OF INFANCY ENPP1 - GLY342VAL 371 371 TYR PHE ARTERIAL CALCIFICATION - GENERALIZED - OF INFANCY ENPP1 - TYR371PHE 266 266 GLY VAL HYPOPHOSPHATEMIC RICKETS - AUTOSOMAL RECESSIVE - 2 ARTERIAL CALCIFICATION - GENERALIZED - OF INFANCY - INCLUDED ENPP1 - GLY266VAL 901 901 TYR SER HYPOPHOSPHATEMIC RICKETS - AUTOSOMAL RECESSIVE - 2 ENPP1 - TYR901SER 601 620 ALA THR DYSPLASMINOGENEMIA PLG - ALA601THR 355 374 VAL PHE DYSPLASMINOGENEMIA PLG - VAL355PHE 572 591 SER PRO DYSPLASMINOGENEMIA PLG - SER572PRO 216 235 ARG HIS PLASMINOGEN DEFICIENCY - TYPE I PLG - ARG216HIS 732 751 GLY ARG DYSPLASMINOGENEMIA PLG - GLY732ARG 19 38 LYS GLU PLASMINOGEN DEFICIENCY - TYPE I PLG - LYS19GLU 15 15 ALA THR PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY SERPINE1 - ALA15THR 125 125 LEU VAL PLATELET-ENDOTHELIAL CELL ADHESION MOLECULE 1 POLYMORPHISM PECAM1 - LEU125VAL 214 240 ARG GLN GLANZMANN THROMBASTHENIA ITGB3 - ARG214GLN 119 145 ASP TYR GLANZMANN THROMBASTHENIA ITGB3 - ASP119TYR 214 240 ARG TRP GLANZMANN THROMBASTHENIA ITGB3 - ARG214TRP 752 778 SER PRO GLANZMANN THROMBASTHENIA ITGB3 - SER752PRO 143 169 ARG GLN PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM THROMBOCYTOPENIA - NEONATAL ALLOIMMUNE - INCLUDED;; POSTTRANSFUSION PURPURA - INCLUDED ITGB3 - ARG143GLN 33 59 LEU PRO PL(A1)/(A2) ALLOANTIGEN POLYMORPHISM THROMBOCYTOPENIA - NEONATAL ALLOIMMUNE - INCLUDED;; POSTTRANSFUSION PURPURA - INCLUDED;; MYOCARDIAL INFARCTION - SUSCEPTIBILITY TO - INCLUDED;; AUTISM - ASSOCIATION WITH - 7 - INCLUDED;; FRACTURE - HIP - SUSCEPTIBILITY TO - INCLUDED ITGB3 - LEU33PRO 407 433 PRO ALA Mo ALLOANTIGEN POLYMORPHISM THROMBOCYTOPENIA - NEONATAL ALLOIMMUNE - INCLUDED ITGB3 - PRO407ALA 489 515 ARG GLN Ca/Tu ALLOANTIGEN POLYMORPHISM THROMBOCYTOPENIA - NEONATAL ALLOIMMUNE - INCLUDED ITGB3 - ARG489GLN 374 400 CYS TYR GLANZMANN THROMBASTHENIA ITGB3 - CYS374TYR 117 143 LEU TRP GLANZMANN THROMBASTHENIA ITGB3 - LEU117TRP 253 279 LYS MET GLANZMANN THROMBASTHENIA ITGB3 - LYS253MET 221 247 GLY ASP GLANZMANN THROMBASTHENIA ITGB3 - GLY221ASP 842 842 ASP VAL GASTROINTESTINAL STROMAL TUMOR - SOMATIC PDGFRA - ASP842VAL 561 561 VAL ASP GASTROINTESTINAL STROMAL TUMOR - SOMATIC GASTROINTESTINAL STROMAL TUMOR - FAMILIAL - INCLUDED PDGFRA - VAL561ASP 674 674 THR ILE HYPEREOSINOPHILIC SYNDROME - IDIOPATHIC - RESISTANT TO IMATINIB PDGFRA - THR674ILE 846 846 ASP TYR GASTROINTESTINAL STROMAL TUMOR - FAMILIAL PDGFRA - ASP846TYR 555 555 TYR CYS GASTROINTESTINAL STROMAL TUMOR - FAMILIAL PDGFRA - TYR555CYS 90 90 PRO SER PLATELET GLYCOPROTEIN IV DEFICIENCY CD36 - PRO90SER 253 253 PHE LEU PLATELET GLYCOPROTEIN IV DEFICIENCY CD36 - PHE253LEU 413 413 ILE LEU PLATELET GLYCOPROTEIN IV DEFICIENCY CD36 - ILE413LEU 45 61 ASN SER BERNARD-SOULIER SYNDROME - TYPE C GP9 - ASN45SER 21 37 ASP GLY BERNARD-SOULIER SYNDROME - TYPE C GP9 - ASP21GLY 55 71 PHE SER BERNARD-SOULIER SYNDROME - TYPE C GP9 - PHE55SER 40 56 LEU PRO BERNARD-SOULIER SYNDROME - TYPE C GP9 - LEU40PRO 8 24 CYS ARG BERNARD-SOULIER SYNDROME - TYPE C GP9 - CYS8ARG 7 7 LEU PRO BERNARD-SOULIER SYNDROME - TYPE C GP9 - LEU7PRO 715 715 THR PRO SELECTIN P POLYMORPHISM SELP - THR715PRO 640 640 VAL LEU ATOPY - SUSCEPTIBILITY TO SELP - VAL640LEU 580 580 ALA VAL IgA NEPHROPATHY - SUSCEPTIBILITY TO PIGR - ALA580VAL 511 511 ASP VAL POLYCYSTIC KIDNEY DISEASE 2 PKD2 - ASP511VAL 955 955 TYR CYS PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS - AUTOSOMAL DOMINANT - 1 POLG - TYR955CYS 467 467 ALA THR PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS - AUTOSOMAL RECESSIVE SENSORY ATAXIC NEUROPATHY - DYSARTHRIA - AND OPHTHALMOPARESIS - INCLUDED;; SPINOCEREBELLAR ATAXIA WITH EPILEPSY - INCLUDED;; MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) - INCLUDED POLG - ALA467THR 304 304 LEU ARG PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS - AUTOSOMAL RECESSIVE POLG - LEU304ARG 3 3 ARG PRO PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS - AUTOSOMAL RECESSIVE POLG - ARG3PRO 627 627 ARG TRP SENSORY ATAXIC NEUROPATHY - DYSARTHRIA - AND OPHTHALMOPARESIS POLG - ARG627TRP 848 848 GLY SER PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS - AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS - DIGENIC - INCLUDED;; MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) - INCLUDED;; MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) - INCLUDED POLG - GLY848SER 251 251 THR ILE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS - AUTOSOMAL RECESSIVE MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) - INCLUDED POLG - THR251ILE 932 932 HIS TYR SENSORY ATAXIC NEUROPATHY - DYSARTHRIA - AND OPHTHALMOPARESIS POLG - HIS932TYR 1051 1051 GLY ARG SENSORY ATAXIC NEUROPATHY - DYSARTHRIA - AND OPHTHALMOPARESIS POLG - GLY1051ARG 587 587 PRO LEU MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS - AUTOSOMAL RECESSIVE - INCLUDED POLG - PRO587LEU 864 864 ASN SER MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) POLG - ASN864SER 748 748 TRP SER SENSORY ATAXIC NEUROPATHY - DYSARTHRIA - AND OPHTHALMOPARESIS SPINOCEREBELLAR ATAXIA WITH EPILEPSY - INCLUDED;; MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) - INCLUDED POLG - TRP748SER 957 957 ALA SER PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS - AUTOSOMAL DOMINANT - 1 POLG - ALA957SER 831 831 TYR CYS PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS - AUTOSOMAL DOMINANT - 1 POLG - TYR831CYS 497 497 GLN HIS SPINOCEREBELLAR ATAXIA WITH EPILEPSY POLG - GLN497HIS 853 853 ARG TRP PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS - AUTOSOMAL RECESSIVE POLG - ARG853TRP 737 737 GLY ARG PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS - AUTOSOMAL RECESSIVE POLG - GLY737ARG 511 511 SER ASN PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS - AUTOSOMAL DOMINANT - 1 POLG - SER511ASN 227 227 ARG TRP MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) POLG - ARG227TRP 1073 1073 PRO LEU MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) - INCLUDED POLG - PRO1073LEU 408 408 VAL ALA EPISODIC ATAXIA - TYPE 1 KCNA1 - VAL408ALA 239 239 ARG SER EPISODIC ATAXIA - TYPE 1 KCNA1 - ARG239SER 174 174 VAL PHE EPISODIC ATAXIA - TYPE 1 KCNA1 - VAL174PHE 249 249 PHE ILE EPISODIC ATAXIA - TYPE 1 KCNA1 - PHE249ILE 184 184 PHE CYS EPISODIC ATAXIA - TYPE 1 KCNA1 - PHE184CYS 325 325 GLU ASP EPISODIC ATAXIA - TYPE 1 KCNA1 - GLU325ASP 226 226 THR ALA EPISODIC ATAXIA - TYPE 1 KCNA1 - THR226ALA 404 404 VAL ILE EPISODIC ATAXIA - TYPE 1 KCNA1 - VAL404ILE 176 176 ILE ARG EPISODIC ATAXIA - TYPE 1 KCNA1 - ILE176ARG 242 242 ALA PRO MYOKYMIA 1 KCNA1 - ALA242PRO 244 244 PRO HIS MYOKYMIA 1 KCNA1 - PRO244HIS 226 226 THR ARG EPISODIC ATAXIA - TYPE 1 KCNA1 - THR226ARG 226 226 THR LYS MYOKYMIA 1 KCNA1 - THR226LYS 255 255 ASN ASP MYOKYMIA 1 WITH HYPOMAGNESEMIA KCNA1 - ASN255ASP 59 59 THR PRO JERVELL AND LANGE-NIELSEN SYNDROME 2 KCNE1 - THR59PRO AND LEU60PRO 60 60 LEU PRO JERVELL AND LANGE-NIELSEN SYNDROME 2 KCNE1 - THR59PRO AND LEU60PRO 7 7 THR ILE JERVELL AND LANGE-NIELSEN SYNDROME 2 KCNE1 - THR7ILE 76 76 ASP ASN JERVELL AND LANGE-NIELSEN SYNDROME 2 LONG QT SYNDROME 5 - INCLUDED KCNE1 - ASP76ASN 74 74 SER LEU LONG QT SYNDROME 5 KCNE1 - SER74LEU 85 85 ASP ASN LONG QT SYNDROME 5 - ACQUIRED - SUSCEPTIBILITY TO LONG QT SYNDROME 2/5 - DIGENIC - INCLUDED KCNE1 - ASP85ASN 420 420 ARG HIS SPINOCEREBELLAR ATAXIA 13 KCNC3 - ARG420HIS 448 448 PHE LEU SPINOCEREBELLAR ATAXIA 13 KCNC3 - PHE448LEU 527 527 THR MET ATRIAL FIBRILLATION - FAMILIAL - 7 KCNA5 - THR527MET 576 576 ALA VAL ATRIAL FIBRILLATION - FAMILIAL - 7 KCNA5 - ALA576VAL 610 610 GLU LYS ATRIAL FIBRILLATION - FAMILIAL - 7 KCNA5 - GLU610LYS 30 50 VAL MET AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - VAL30MET 33 53 PHE ILE AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - PHE33ILE 58 78 LEU HIS AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - LEU58HIS 60 80 THR ALA AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - THR60ALA 77 97 SER TYR AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - SER77TYR 84 104 ILE SER AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - ILE84SER 111 131 LEU MET AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - LEU111MET 116 136 TYR VAL TRANSTHYRETIN POLYMORPHISM TTR - TYR116VAL 122 142 VAL ILE AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - VAL122ILE 90 110 HIS ASN AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - HIS90ASN 114 134 TYR CYS AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - TYR114CYS 42 62 GLU GLY AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - GLU42GLY 50 70 SER ARG AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - SER50ARG 30 50 VAL ALA AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - VAL30ALA 109 129 ALA THR DYSTRANSTHYRETINEMIC EUTHYROIDAL HYPERTHYROXINEMIA TTR - ALA109THR 36 56 ALA PRO AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - ALA36PRO 90 110 HIS ASN TRANSTHYRETIN POLYMORPHISM - ACIDIC TTR - HIS90ASN 119 139 THR MET AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED - MODIFIER OF TTR - THR119MET 58 78 LEU ARG AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - LEU58ARG 47 67 GLY ARG AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - GLY47ARG - G-C 45 65 ALA THR AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - ALA45THR 55 75 LEU PRO AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - LEU55PRO 50 70 SER ILE AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - SER50ILE 30 50 VAL LEU AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - VAL30LEU 49 69 THR ALA AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - THR49ALA 89 109 GLU GLN AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - GLU89GLN 70 90 LYS ASN AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - LYS70ASN 10 30 CYS ARG AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - CYS10ARG 71 91 VAL ALA AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - VAL71ALA 68 88 ILE LEU AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - ILE68LEU 61 81 GLU LYS AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - GLU61LYS 97 117 ALA GLY AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - ALA97GLY 114 134 TYR HIS CARPAL TUNNEL SYNDROME - FAMILIAL TTR - TYR114HIS 107 127 ILE VAL AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - ILE107VAL 47 67 GLY ALA AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - GLY47ALA 6 26 GLY SER TRANSTHYRETIN POLYMORPHISM TTR - GLY6SER 64 84 PHE LEU AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - PHE64LEU 109 129 ALA VAL DYSTRANSTHYRETINEMIC EUTHYROIDAL HYPERTHYROXINEMIA TTR - ALA109VAL 20 40 VAL ILE AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - VAL20ILE 33 53 PHE LEU AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - PHE33LEU 12 32 LEU PRO AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - LEU12PRO 104 124 ARG HIS AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - ARG104HIS 47 67 GLY ARG AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - GLY47ARG - G-A 44 64 PHE SER AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - PHE44SER 53 73 GLY GLU AMYLOIDOSIS - LEPTOMENINGEAL - TRANSTHYRETIN-RELATED TTR - GLY53GLU 18 38 ASP GLY AMYLOIDOSIS - LEPTOMENINGEAL - TRANSTHYRETIN-RELATED TTR - ASP18GLY 64 84 PHE SER AMYLOIDOSIS - LEPTOMENINGEAL - TRANSTHYRETIN-RELATED TTR - PHE64SER 30 50 VAL GLY AMYLOIDOSIS - LEPTOMENINGEAL - TRANSTHYRETIN-RELATED TTR - VAL30GLY 69 89 TYR HIS AMYLOIDOSIS - LEPTOMENINGEAL - TRANSTHYRETIN-RELATED TTR - TYR69HIS 25 45 ALA THR AMYLOIDOSIS - LEPTOMENINGEAL - TRANSTHYRETIN-RELATED TTR - ALA25THR 97 117 ALA SER AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - ALA97SER 102 102 PRO LEU GERSTMANN-STRAUSSLER DISEASE PRNP - PRO102LEU 117 117 ALA VAL GERSTMANN-STRAUSSLER DISEASE PRNP - ALA117VAL 129 129 MET VAL PRION DISEASE - SUSCEPTIBILITY TO ALZHEIMER DISEASE - EARLY-ONSET - SUSCEPTIBILITY TO - INCLUDED;; APHASIA - PRIMARY PROGRESSIVE - SUSCEPTIBILITY TO - INCLUDED PRNP - MET129VAL 200 200 GLU LYS CREUTZFELDT-JAKOB DISEASE FATAL FAMILIAL INSOMNIA - INCLUDED PRNP - GLU200LYS 129 129 MET VAL CREUTZFELDT-JAKOB DISEASE FATAL FAMILIAL INSOMNIA - INCLUDED PRNP - ASP178ASN AND MET129VAL 178 178 ASP ASN CREUTZFELDT-JAKOB DISEASE FATAL FAMILIAL INSOMNIA - INCLUDED PRNP - ASP178ASN AND MET129VAL 178 178 ASP ASN FATAL FAMILIAL INSOMNIA CREUTZFELDT-JAKOB DISEASE - INCLUDED PRNP - ASP178ASN AND MET129 198 198 PHE SER GERSTMANN-STRAUSSLER DISEASE PRNP - PHE198SER 217 217 GLN ARG GERSTMANN-STRAUSSLER DISEASE PRNP - GLN217ARG 210 210 VAL ILE CREUTZFELDT-JAKOB DISEASE PRNP - VAL210ILE 105 105 PRO LEU GERSTMANN-STRAUSSLER DISEASE PRNP - PRO105LEU 180 180 VAL ILE CREUTZFELDT-JAKOB DISEASE PRNP - VAL180ILE 232 232 MET ARG CREUTZFELDT-JAKOB DISEASE DEMENTIA - LEWY BODY - INCLUDED PRNP - MET232ARG 171 171 ASN SER SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES EPILEPSY - FOCAL - DUE TO CORTICAL MALFORMATION - SUSCEPTIBILITY TO - INCLUDED PRNP - ASN171SER 219 219 GLU LYS CREUTZFELDT-JAKOB DISEASE - PROTECTION AGAINST PRNP - GLU219LYS 131 131 GLY VAL GERSTMANN-STRAUSSLER DISEASE PRNP - GLY131VAL 183 183 THR ALA SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES PRNP - THR183ALA 208 208 ARG HIS CREUTZFELDT-JAKOB DISEASE PRNP - ARG208HIS 187 187 HIS ARG GERSTMANN-STRAUSSLER DISEASE SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES - INCLUDED PRNP - HIS187ARG 105 105 PRO THR SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES PRNP - PRO105THR 133 133 ALA VAL GERSTMANN-STRAUSSLER DISEASE PRNP - ALA133VAL 105 105 PRO SER GERSTMANN-STRAUSSLER DISEASE PRNP - PRO105SER 127 127 GLY VAL KURU - PROTECTION AGAINST PRNP - GLY127VAL 25 25 PHE LEU INSULIN CHICAGO INS - PHE25LEU 24 24 PHE SER INSULIN LOS ANGELES INS - PHE24SER 10 10 HIS ASP HYPERPROINSULINEMIA - FAMILIAL PROINSULIN PROVIDENCE INS - HIS10ASP 65 65 ARG HIS HYPERPROINSULINEMIA - FAMILIAL INS - ARG65HIS 3 3 VAL LEU INSULIN WAKAYAMA DIABETES MELLITUS WITH HYPERINSULINEMIA INS - VAL3LEU 65 65 ARG LEU HYPERPROINSULINEMIA - FAMILIAL PROINSULIN KYOTO INS - ARG65LEU 65 65 ARG PRO HYPERPROINSULINEMIA - FAMILIAL INS - ARG65PRO 32 32 GLY SER DIABETES MELLITUS - PERMANENT NEONATAL INS - GLY32SER 43 43 CYS GLY DIABETES MELLITUS - PERMANENT NEONATAL INS - CYS43GLY 89 89 ARG CYS DIABETES MELLITUS - PERMANENT NEONATAL INS - ARG89CYS 96 96 CYS TYR DIABETES MELLITUS - PERMANENT NEONATAL INS - CYS96TYR 24 24 ALA ASP DIABETES MELLITUS - PERMANENT NEONATAL INS - ALA24ASP 48 48 PHE CYS DIABETES MELLITUS - PERMANENT NEONATAL INS - PHE48CYS 6 6 ARG CYS MATURITY-ONSET DIABETES OF THE YOUNG - TYPE 10 INS - ARG6CYS 46 46 ARG GLN MATURITY-ONSET DIABETES OF THE YOUNG - TYPE 10 INS - ARG46GLN 55 55 ARG CYS DIABETES MELLITUS - INSULIN-DEPENDENT - 2 INS - ARG55CYS 617 617 MET VAL SKELETAL DEFECTS - GENITAL HYPOPLASIA - AND MENTAL RETARDATION ZBTB16 - MET617VAL 217 217 THR ILE METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY PSAP - THR217ILE 241 241 CYS SER METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY PSAP - CYS241SER 385 385 CYS PHE GAUCHER DISEASE - ATYPICAL - DUE TO SAPOSIN C DEFICIENCY PSAP - CYS385PHE 1 1 MET LEU COMBINED SAPOSIN DEFICIENCY GAUCHER DISEASE - ATYPICAL - DUE TO SAPOSIN C DEFICIENCY - INCLUDED PSAP - MET1LEU 215 215 ASN HIS METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY PSAP - ASN215HIS 382 382 CYS GLY GAUCHER DISEASE - ATYPICAL - DUE TO SAPOSIN C DEFICIENCY PSAP - CYS382GLY 349 349 LEU PRO GAUCHER DISEASE - ATYPICAL - DUE TO SAPOSIN C DEFICIENCY PSAP - LEU349PRO 236 236 ARG GLY OBESITY - EARLY-ONSET - SUSCEPTIBILITY TO POMC - ARG236GLY 53 53 PHE SER CARDIOFACIOCUTANEOUS SYNDROME MAP2K1 - PHE53SER 130 130 TYR CYS CARDIOFACIOCUTANEOUS SYNDROME MAP2K1 - TYR130CYS 128 128 GLY VAL CARDIOFACIOCUTANEOUS SYNDROME MAP2K1 - GLY128VAL 72 72 ALA SER NOONAN SYNDROME 1 PTPN11 - ALA72SER 72 72 ALA GLY NOONAN SYNDROME 1 PTPN11 - ALA72GLY 308 308 ASN ASP NOONAN SYNDROME 1 PTPN11 - ASN308ASP 308 308 ASN SER NOONAN SYNDROME 1 PTPN11 - ASN308SER 279 279 TYR CYS LEOPARD SYNDROME PTPN11 - TYR279CYS 468 468 THR MET LEOPARD SYNDROME PTPN11 - THR468MET 502 502 SER THR NOONAN SYNDROME 1 PTPN11 - SER502THR 63 63 TYR CYS NOONAN SYNDROME 1 PTPN11 - TYR63CYS 62 62 TYR ASP NOONAN SYNDROME 1 PTPN11 - TYR62ASP 61 61 ASP GLY NOONAN SYNDROME 1 PTPN11 - ASP61GLY 73 73 THR ILE NOONAN SYNDROME 1 LEUKEMIA - JUVENILE MYELOMONOCYTIC - INCLUDED PTPN11 - THR73ILE 285 285 PHE SER NOONAN SYNDROME 1 PTPN11 - PHE285SER 76 76 GLU LYS LEUKEMIA - JUVENILE MYELOMONOCYTIC PTPN11 - GLU76LYS 76 76 GLU VAL LEUKEMIA - JUVENILE MYELOMONOCYTIC PTPN11 - GLU76VAL 76 76 GLU GLY LEUKEMIA - JUVENILE MYELOMONOCYTIC PTPN11 - GLU76GLY 76 76 GLU ALA LEUKEMIA - JUVENILE MYELOMONOCYTIC PTPN11 - GLU76ALA 79 79 GLN ARG NOONAN SYNDROME PTPN11 - GLN79ARG 411 411 THR MET NOONAN SYNDROME PTPN11 - THR411MET 461 461 ALA THR LEOPARD SYNDROME PTPN11 - ALA461THR 464 464 GLY ALA LEOPARD SYNDROME PTPN11 - GLY464ALA 510 510 GLN PRO LEOPARD SYNDROME PTPN11 - GLN510PRO 510 510 GLN ARG NOONAN SYNDROME PTPN11 - GLN510ARG 2 2 THR ILE NOONAN SYNDROME PTPN11 - THR2ILE 460 501 SER PRO PROTEIN S HEERLEN PROS1 - SER460PRO 217 258 ASN SER THROMBOPHILIA - HEREDITARY - DUE TO PROTEIN S DEFICIENCY - AUTOSOMAL DOMINANT PROS1 - ASN217SER 155 196 LYS GLU THROMBOPHILIA - HEREDITARY - DUE TO PROTEIN S DEFICIENCY - AUTOSOMAL DOMINANT PROS1 - LYS155GLU 520 561 ARG GLY THROMBOPHILIA - HEREDITARY - DUE TO PROTEIN S DEFICIENCY - AUTOSOMAL DOMINANT PROS1 - ARG520GLY 157 200 GLU LYS PROTHROMBIN TYPE 3 F2 - GLU157LYS 271 314 ARG CYS DYSPROTHROMBINEMIA F2 - ARG271CYS 418 461 ARG TRP DYSPROTHROMBINEMIA F2 - ARG418TRP 382 425 ARG CYS DYSPROTHROMBINEMIA F2 - ARG382CYS 558 601 GLY VAL DYSPROTHROMBINEMIA F2 - GLY558VAL 337 380 MET THR DYSPROTHROMBINEMIA F2 - MET337THR 388 431 ARG HIS DYSPROTHROMBINEMIA PROTHROMBIN HIMI-II F2 - ARG388HIS 300 343 GLU LYS DYSPROTHROMBINEMIA F2 - GLU300LYS 309 352 GLU LYS DYSPROTHROMBINEMIA F2 - GLU309LYS 382 425 ARG HIS DYSPROTHROMBINEMIA F2 - ARG382HIS 552 595 ASP GLU DYSPROTHROMBINEMIA F2 - ASP552GLU 44 87 TYR CYS HYPOPROTHROMBINEMIA F2 - TYR44CYS 342 342 CYS TYR CROUZON SYNDROME PFEIFFER SYNDROME - INCLUDED FGFR2 - CYS342TYR 342 342 CYS ARG CROUZON SYNDROME PFEIFFER SYNDROME - INCLUDED;; JACKSON-WEISS SYNDROME - INCLUDED;; ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS - INCLUDED FGFR2 - CYS342ARG 342 342 CYS SER CROUZON SYNDROME JACKSON-WEISS SYNDROME - INCLUDED;; ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS - INCLUDED FGFR2 - CYS342SER 340 340 TYR HIS CROUZON SYNDROME FGFR2 - TYR340HIS 354 354 SER CYS CROUZON SYNDROME FGFR2 - SER354CYS 344 344 ALA ALA CROUZON SYNDROME CRANIOSYNOSTOSIS - NONCLASSIFIABLE AUTOSOMAL DOMINANT - INCLUDED;; SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY - INCLUDED FGFR2 - ALA344ALA 344 344 ALA GLY JACKSON-WEISS SYNDROME CROUZON SYNDROME - INCLUDED FGFR2 - ALA344GLY 328 328 TYR CYS CROUZON SYNDROME FGFR2 - TYR328CYS 347 347 SER CYS CROUZON SYNDROME FGFR2 - SER347CYS 252 252 SER TRP APERT SYNDROME ENDOMETRIAL CANCER - SOMATIC - INCLUDED FGFR2 - SER252TRP 253 253 PRO ARG APERT SYNDROME FGFR2 - PRO253ARG 341 341 THR PRO PFEIFFER SYNDROME FGFR2 - THR341PRO 342 342 CYS TRP CROUZON SYNDROME FGFR2 - CYS342TRP 289 289 GLN PRO CROUZON SYNDROME JACKSON-WEISS SYNDROME - INCLUDED FGFR2 - GLN289PRO 375 375 TYR CYS BEARE-STEVENSON CUTIS GYRATA SYNDROME ENDOMETRIAL CANCER - SOMATIC - INCLUDED FGFR2 - TYR375CYS 372 372 SER CYS BEARE-STEVENSON CUTIS GYRATA SYNDROME FGFR2 - SER372CYS 252 252 SER PHE APERT SYNDROME FGFR2 - SER252PHE 252 252 SER PHE PFEIFFER SYNDROME VARIANT FGFR2 - SER252PHE AND PRO253SER 253 253 PRO SER PFEIFFER SYNDROME VARIANT FGFR2 - SER252PHE AND PRO253SER 290 290 TRP CYS PFEIFFER SYNDROME FGFR2 - TRP290CYS 292 292 LYS GLU CROUZON SYNDROME FGFR2 - LYS292GLU 290 290 TRP ARG CROUZON SYNDROME FGFR2 - TRP290ARG 290 290 TRP GLY CROUZON SYNDROME FGFR2 - TRP290GLY 351 351 SER CYS PFEIFFER SYNDROME - TYPE III ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS - INCLUDED FGFR2 - SER351CYS 315 315 ALA SER CRANIOSYNOSTOSIS - NONSYNDROMIC UNICORONAL FGFR2 - ALA315SER 267 267 SER PRO PFEIFFER SYNDROME GASTRIC CANCER - SOMATIC - INCLUDED FGFR2 - SER267PRO 290 290 TRP CYS PFEIFFER SYNDROME CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA - INCLUDED FGFR2 - TRP290CYS - 870G-T 565 565 GLU ALA PFEIFFER SYNDROME FGFR2 - GLU565ALA 526 526 LYS GLU CROUZON SYNDROME SCAPHOCEPHALY - MAXILLARY RETRUSION - AND MENTAL RETARDATION - INCLUDED FGFR2 - LYS526GLU 648 648 ALA THR LADD SYNDROME FGFR2 - ALA648THR 628 628 ALA THR LADD SYNDROME FGFR2 - ALA628THR 321 321 ASP ALA PFEIFFER SYNDROME FGFR2 - ASP321ALA 948 948 GLY TRP CATARACT - POSTERIOR POLAR - 1 EPHA2 - GLY948TRP 940 940 THR ILE CATARACT - POSTERIOR POLAR - 1 EPHA2 - THR940ILE 721 721 ARG GLN CATARACT - AGE-RELATED CORTICAL - 2 EPHA2 - ARG721GLN 518 518 SER ARG SELECTIVE T-CELL DEFECT - IMMUNODEFICIENCY DUE TO SCID DUE TO ZAP70 DEFICIENCY ZAP70 - SER518ARG 465 465 ARG HIS SELECTIVE T-CELL DEFECT - IMMUNODEFICIENCY DUE TO SCID DUE TO ZAP70 DEFICIENCY ZAP70 - ARG465HIS 101 101 HIS TYR SPINOCEREBELLAR ATAXIA 14 PRKCG - HIS101TYR 119 119 SER PRO SPINOCEREBELLAR ATAXIA 14 PRKCG - SER119PRO 128 128 GLY ASP SPINOCEREBELLAR ATAXIA 14 PRKCG - GLY128ASP 118 118 GLY ASP SPINOCEREBELLAR ATAXIA 14 PRKCG - GLY118ASP 127 127 GLN ARG SPINOCEREBELLAR ATAXIA 14 PRKCG - GLN127ARG 643 643 PHE LEU SPINOCEREBELLAR ATAXIA 14 PRKCG - PHE643LEU 361 361 SER GLY SPINOCEREBELLAR ATAXIA 14 PRKCG - SER361GLY 101 101 HIS GLN SPINOCEREBELLAR ATAXIA 14 PRKCG - HIS101GLN 75 75 THR MET JMP SYNDROME PSMB8 - THR75MET 142 472 ALA THR SPHEROCYTOSIS - TYPE 5 - DUE TO PROTEIN 4.2-NIPPON EPB42 - ALA142THR 310 640 ARG GLN SPHEROCYTOSIS - TYPE 5 - DUE TO PROTEIN 4.2-TOZEUR EPB42 - ARG310GLN 288 288 ARG PRO CATARACT - PULVERULENT - JUVENILE-ONSET MAF - ARG288PRO 297 297 LYS ARG CATARACT - CONGENITAL - CERULEAN TYPE - 4 MAF - LYS297ARG 70 98 ASP GLY APNEA - POSTANESTHETIC - DUE TO BCHE - ATYPICAL-1 BCHE - DIBUCAINE-RESISTANT I;; CHE*70G;; BCHE*70G BCHE - ASP70GLY 243 271 THR MET BCHE - FLUORIDE 1 BCHE - FLUORIDE-RESISTANT I;; CHE*243M;; BCHE*243M BCHE - THR243MET 390 418 GLY VAL BCHE - FLUORIDE 2 BCHE - FLUORIDE-RESISTANT II;; CHE*390V;; BCHE*390V BCHE - GLY390VAL 539 567 ALA THR BCHE - K VARIANT BCHE - QUANTITATIVE K POLYMORPHISM;; CHE*539T;; BCHE*539T BCHE - ALA539THR 497 525 GLU VAL BCHE - J VARIANT BCHE - QUANTITATIVE J VARIANT BCHE - GLU497VAL 330 358 LEU ILE BUTYRYLCHOLINESTERASE DEFICIENCY - FLUORIDE-RESISTANT - JAPANESE TYPE BCHE - LEU330ILE 128 156 TYR CYS BUTYRYLCHOLINESTERASE DEFICIENCY BCHE - TYR128CYS 335 335 LEU PRO BUTYRYLCHOLINESTERASE DEFICIENCY BCHE - LEU335PRO 115 143 GLY ASP BUTYRYLCHOLINESTERASE DEFICIENCY BCHE - GLY115ASP AND IVS3AS - T-C - -14 73 73 ILE THR SURFACTANT METABOLISM DYSFUNCTION - PULMONARY - 2 SFTPC - ILE73THR 167 167 ARG GLN SURFACTANT METABOLISM DYSFUNCTION - PULMONARY - 2 SFTPC - ARG167GLN 188 188 LEU GLN SURFACTANT METABOLISM DYSFUNCTION - PULMONARY - 2 SFTPC - LEU188GLN 116 116 ALA ASP SURFACTANT METABOLISM DYSFUNCTION - PULMONARY - 2 SFTPC - ALA116ASP 66 66 GLU LYS SURFACTANT METABOLISM DYSFUNCTION - PULMONARY - 2 SFTPC - GLU66LYS 194 194 LEU PRO SURFACTANT METABOLISM DYSFUNCTION - PULMONARY - 2 SFTPC - LEU194PRO 219 219 ARG TRP PULMONARY FIBROSIS - IDIOPATHIC - SUSCEPTIBILITY TO SFTPA1 - ARG219TRP 236 236 ARG CYS SURFACTANT METABOLISM DYSFUNCTION - PULMONARY - 1 SFTPB - ARG236CYS 231 231 GLY VAL PULMONARY FIBROSIS - IDIOPATHIC SFTPA2 - GLY231VAL 198 198 PHE SER PULMONARY FIBROSIS - IDIOPATHIC SFTPA2 - PHE198SER 266 266 ARG GLN CUTIS LAXA - AUTOSOMAL RECESSIVE - TYPE IIB PYCR1 - ARG266GLN 206 206 GLY TRP CUTIS LAXA - AUTOSOMAL RECESSIVE - TYPE IIB PYCR1 - GLY206TRP 266 266 ARG GLN CUTIS LAXA - AUTOSOMAL RECESSIVE - TYPE IIB PYCR1 - ARG266GLN 119 119 ARG GLY CUTIS LAXA - AUTOSOMAL RECESSIVE - TYPE IIB PYCR1 - ARG119GLY 119 119 ARG HIS CUTIS LAXA - AUTOSOMAL RECESSIVE - TYPE IIB PYCR1 - ARG119HIS 251 251 ARG HIS CUTIS LAXA - AUTOSOMAL RECESSIVE - TYPE IIB PYCR1 - ARG251HIS 132 132 TYR CYS PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY PDHB - TYR132CYS 344 344 PRO SER PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY PDHB - PRO344SER 578 578 ASP ASN DEAFNESS - AUTOSOMAL RECESSIVE - 24 RDX - ASP578ASN 216 216 PRO LEU RETINITIS PIGMENTOSA 7 PRPH2 - PRO216LEU 185 185 LEU PRO RETINITIS PIGMENTOSA 7 - DIGENIC PRPH2 - LEU185PRO 172 172 ARG GLN CHOROIDAL DYSTROPHY - CENTRAL AREOLAR 2 PRPH2 - ARG172GLN 172 172 ARG TRP CHOROIDAL DYSTROPHY - CENTRAL AREOLAR 2 PRPH2 - ARG172TRP 167 167 GLY ASP MACULAR DYSTROPHY - PATTERNED PRPH2 - GLY167ASP 244 244 ASN LYS RETINITIS PIGMENTOSA 7 - WITH BULL'S-EYE MACULOPATHY PRPH2 - ASN244LYS 210 210 PRO ARG FOVEOMACULAR DYSTROPHY - ADULT-ONSET - WITH CHOROIDAL NEOVASCULARIZATION PRPH2 - PRO210ARG 1 1 MET THR VITELLIFORM MACULAR DYSTROPHY - ADULT-ONSET PRPH2 - MET1THR 173 173 ASP VAL RETINITIS PIGMENTOSA 7 PRPH2 - ASP173VAL 195 195 ARG LEU CHOROIDAL DYSTROPHY - CENTRAL AREOLAR 2 PRPH2 - ARG195LEU 142 142 ARG TRP CHOROIDAL DYSTROPHY - CENTRAL AREOLAR 2 PRPH2 - ARG142TRP 722 722 GLU LYS SEVERE COMBINED IMMUNODEFICIENCY - B CELL-NEGATIVE RAG1 - GLU722LYS 156 156 ALA VAL RECOMBINATION ACTIVATING GENE 1 POLYMORPHISM RAG1 - ALA156VAL 561 561 ARG HIS OMENN SYNDROME RAG1 - ARG561HIS 396 396 ARG CYS OMENN SYNDROME RAG1 - ARG396CYS 912 912 TYR CYS OMENN SYNDROME RAG1 - TYR912CYS 396 396 ARG HIS OMENN SYNDROME RAG1 - ARG396HIS 429 429 ASP GLY OMENN SYNDROME RAG1 - ASP429GLY 561 561 ARG CYS OMENN SYNDROME SEVERE COMBINED IMMUNODEFICIENCY - B CELL-NEGATIVE - INCLUDED RAG1 - ARG561CYS 737 737 ARG HIS OMENN SYNDROME RAG1 - ARG737HIS 841 841 ARG TRP ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION - SEVERE CYTOMEGALOVIRUS INFECTION - AND AUTOIMMUNITY RAG1 - ARG841TRP 981 981 GLN PRO ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION - SEVERE CYTOMEGALOVIRUS INFECTION - AND AUTOIMMUNITY RAG1 - GLN981PRO 314 314 ARG TRP COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS RAG1 - ARG314TRP 507 507 ARG TRP COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS RAG1 - ARG507TRP AND ARG737HIS 737 737 ARG HIS COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS RAG1 - ARG507TRP AND ARG737HIS 778 778 ARG GLN COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS RAG1 - ARG778GLN 975 975 ARG TRP COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS RAG1 - ARG975TRP 328 328 CYS TYR OMENN SYNDROME RAG1 - CYS328TYR 776 776 ARG TRP SEVERE COMBINED IMMUNODEFICIENCY - B CELL-NEGATIVE RAG1 - ARG776TRP 476 476 CYS TYR SEVERE COMBINED IMMUNODEFICIENCY - B CELL-NEGATIVE RAG2 - CYS476TYR 229 229 ARG GLN SEVERE COMBINED IMMUNODEFICIENCY - B CELL-NEGATIVE OMENN SYNDROME - INCLUDED RAG2 - ARG229GLN 41 41 CYS TRP OMENN SYNDROME RAG2 - CYS41TRP 285 285 MET ARG OMENN SYNDROME RAG2 - MET285ARG 95 95 GLY ARG OMENN SYNDROME RAG2 - GLY95ARG 215 215 TRP ILE SEVERE COMBINED IMMUNODEFICIENCY - B CELL-NEGATIVE RAG2 - TRP215ILE 39 39 ARG GLY SEVERE COMBINED IMMUNODEFICIENCY - B CELL-NEGATIVE OMENN SYNDROME - INCLUDED RAG2 - ARG39GLY 77 77 THR ASN COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS RAG2 - THR77ASN 451 451 GLY ALA COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS RAG2 - GLY451ALA 150 150 ARG GLN BREAST CANCER - FAMILIAL RAD51 - ARG150GLN 230 230 ARG LYS RENAL TUBULAR DYSGENESIS REN - ARG230LYS 16 16 LEU ARG HYPERURICEMIC NEPHROPATHY - FAMILIAL JUVENILE - 2 REN - LEU16ARG 363 363 PRO THR RETINITIS PIGMENTOSA 20 RPE65 - PRO363THR 341 341 LEU SER RETINITIS PIGMENTOSA 20 RPE65 - LEU341SER 132 132 ALA THR RETINITIS PIGMENTOSA 20 RPE65 - ALA132THR 91 91 ARG TRP RETINITIS PIGMENTOSA 20 RPE65 - ARG91TRP 452 452 VAL GLY RETINITIS PIGMENTOSA 20 RPE65 - VAL452GLY 515 515 ARG TRP RETINITIS PIGMENTOSA 20 LEBER CONGENITAL AMAUROSIS 2 - INCLUDED RPE65 - ARG515TRP 344 344 SER ARG RETINITIS PIGMENTOSA 43 PDE6A - SER344ARG 557 557 HIS TYR RETINITIS PIGMENTOSA 40 PDE6B - HIS557TYR 258 258 HIS ASN NIGHT BLINDNESS - CONGENITAL STATIONARY - AUTOSOMAL DOMINANT 2 PDE6B - HIS258ASN 807 807 TRP ARG RETINITIS PIGMENTOSA 40 PDE6B - TRP807ARG 150 150 ARG GLN FUNDUS ALBIPUNCTATUS RETINITIS PUNCTATA ALBESCENS - INCLUDED RLBP1 - ARG150GLN 234 234 ARG TRP BOTHNIA RETINAL DYSTROPHY RETINITIS PUNCTATA ALBESCENS - INCLUDED RLBP1 - ARG234TRP 225 225 MET LYS RETINITIS PUNCTATA ALBESCENS RLBP1 - MET225LYS 567 567 SER LEU RETINOBLASTOMA RB1 - SER567LEU 661 661 ARG TRP RETINOBLASTOMA - INCOMPLETE PENETRANCE TYPE RB1 - ARG661TRP 712 712 CYS ARG RETINOBLASTOMA - INCOMPLETE PENETRANCE TYPE RB1 - CYS712ARG 41 59 ILE ASN RETINOL-BINDING PROTEIN DEFICIENCY RBP4 - ILE41ASN 75 93 GLY ASP RETINOL-BINDING PROTEIN DEFICIENCY RBP4 - GLY75ASP 79 79 SER ASN RH-NULL HEMOLYTIC ANEMIA - REGULATOR TYPE RHAG - SER79ASN 279 279 GLY GLU RH-NULL HEMOLYTIC ANEMIA - REGULATOR TYPE RHAG - GLY279GLU 1 1 MET ILE RH-MOD SYNDROME RHAG - MET1ILE 280 280 GLY ARG RH-NULL HEMOLYTIC ANEMIA - REGULATOR TYPE RHAG - VAL270ILE AND GLY280ARG 270 270 VAL ILE RH-NULL HEMOLYTIC ANEMIA - REGULATOR TYPE RHAG - VAL270ILE AND GLY280ARG 380 380 GLY VAL RH-NULL HEMOLYTIC ANEMIA - REGULATOR TYPE RHAG - GLY380VAL 23 23 PRO HIS RETINITIS PIGMENTOSA 4 RHO - PRO23HIS 347 347 PRO LEU RETINITIS PIGMENTOSA 4 RHO - PRO347LEU 347 347 PRO SER RETINITIS PIGMENTOSA 4 RHO - PRO347SER 58 58 THR ARG RETINITIS PIGMENTOSA 4 RHO - THR58ARG 17 17 THR MET RETINITIS PIGMENTOSA 4 RHO - THR17MET 45 45 PHE LEU RETINITIS PIGMENTOSA 4 RHO - PHE45LEU 87 87 VAL ASP RETINITIS PIGMENTOSA 4 RHO - VAL87ASP 89 89 GLY ASP RETINITIS PIGMENTOSA 4 RHO - GLY89ASP 106 106 GLY TRP RETINITIS PIGMENTOSA 4 RHO - GLY106TRP 135 135 ARG LEU RETINITIS PIGMENTOSA 4 RHO - ARG135LEU 135 135 ARG TRP RETINITIS PIGMENTOSA 4 RETINITIS PUNCTATA ALBESCENS - INCLUDED RHO - ARG135TRP 178 178 TYR CYS RETINITIS PIGMENTOSA 4 RHO - TYR178CYS 190 190 ASP GLY RETINITIS PIGMENTOSA 4 RHO - ASP190GLY 296 296 LYS GLU RETINITIS PIGMENTOSA 4 RHO - LYS296GLU 190 190 ASP ASN RETINITIS PIGMENTOSA 4 RHO - ASP190ASN 211 211 HIS PRO RETINITIS PIGMENTOSA 4 RHO - HIS211PRO 347 347 PRO ARG RETINITIS PIGMENTOSA 4 RHO - PRO347ARG 182 182 GLY SER RETINITIS PIGMENTOSA 4 RHO - GLY182SER 267 267 PRO LEU RETINITIS PIGMENTOSA 4 RHO - PRO267LEU 53 53 PRO ARG RETINITIS PIGMENTOSA 4 RHO - PRO53ARG 106 106 GLY ARG RETINITIS PIGMENTOSA 4 RHO - GLY106ARG 190 190 ASP TYR RETINITIS PIGMENTOSA 4 RHO - ASP190TYR 207 207 ARG MET RETINITIS PIGMENTOSA 4 RHO - ARG207MET 15 15 ASN SER RETINITIS PIGMENTOSA 4 RHO - ASN15SER 207 207 MET ARG RETINITIS PIGMENTOSA 4 RHO - MET207ARG 292 292 ALA GLU NIGHT BLINDNESS - CONGENITAL STATIONARY - AUTOSOMAL DOMINANT 1 RHO - ALA292GLU 90 90 GLY ASP NIGHT BLINDNESS - CONGENITAL STATIONARY - AUTOSOMAL DOMINANT 1 RHO - GLY90ASP 150 150 GLU LYS RETINITIS PIGMENTOSA 4 - AUTOSOMAL RECESSIVE RHO - GLU150LYS 51 51 GLY ARG RETINITIS PIGMENTOSA 4 RHO - GLY51ARG 110 110 CYS TYR RETINITIS PIGMENTOSA 4 RHO - CYS110TYR 114 114 GLY ASP RETINITIS PIGMENTOSA 4 RHO - GLY114ASP 164 164 ALA GLU RETINITIS PIGMENTOSA 4 RHO - ALA164GLU 171 171 PRO SER RETINITIS PIGMENTOSA 4 RHO - PRO171SER 345 345 VAL LEU RETINITIS PIGMENTOSA 4 RHO - VAL345LEU 347 347 PRO GLN RETINITIS PIGMENTOSA 4 RHO - PRO347GLN 94 94 THR ILE NIGHT BLINDNESS - CONGENITAL STATIONARY - AUTOSOMAL DOMINANT 1 RHO - THR94ILE 23 23 PRO ALA RETINITIS PIGMENTOSA 4 RHO - PRO23ALA 345 345 VAL MET RETINITIS PIGMENTOSA 4 RHO - VAL345MET 380 380 VAL ASP OGUCHI DISEASE 2 GRK1 - VAL380ASP 391 391 PRO HIS OGUCHI DISEASE 2 GRK1 - PRO391HIS 61 61 ALA VAL RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY RPI - ALA61VAL 1 1 MET ILE PROSTATE CANCER - HEREDITARY - 1 RNASEL - MET1ILE 462 462 ARG GLN PROSTATE CANCER - SUSCEPTIBILITY TO RNASEL - ARG462GLN 33 33 VAL ILE DIAMOND-BLACKFAN ANEMIA 5 RPL35A - VAL33ILE 1 1 MET ARG DIAMOND-BLACKFAN ANEMIA 4 RPS17 - MET1ARG 614 614 ARG CYS MALIGNANT HYPERTHERMIA - SUSCEPTIBILITY TO - 1 RYR1 - ARG614CYS 248 248 ARG GLY MALIGNANT HYPERTHERMIA - SUSCEPTIBILITY TO - 1 RYR1 - ARG248GLY 2435 2435 ARG HIS CENTRAL CORE DISEASE RYR1 - ARG2435HIS 163 163 ARG CYS MALIGNANT HYPERTHERMIA - SUSCEPTIBILITY TO - 1 CENTRAL CORE DISEASE - INCLUDED RYR1 - ARG163CYS 403 403 ILE MET CENTRAL CORE DISEASE RYR1 - ILE403MET 341 341 GLY ARG MALIGNANT HYPERTHERMIA - SUSCEPTIBILITY TO - 1 RYR1 - GLY341ARG 2434 2434 GLY ARG MALIGNANT HYPERTHERMIA - SUSCEPTIBILITY TO - 1 RYR1 - GLY2434ARG 2458 2458 ARG CYS MALIGNANT HYPERTHERMIA - SUSCEPTIBILITY TO - 1 RYR1 - ARG2458CYS 2458 2458 ARG HIS MALIGNANT HYPERTHERMIA - SUSCEPTIBILITY TO - 1 RYR1 - ARG2458HIS 2163 2163 ARG CYS MALIGNANT HYPERTHERMIA - SUSCEPTIBILITY TO - 1 RYR1 - ARG2163CYS 2163 2163 ARG HIS MALIGNANT HYPERTHERMIA - SUSCEPTIBILITY TO - 1 CENTRAL CORE DISEASE - INCLUDED RYR1 - ARG2163HIS 4898 4898 ILE THR CENTRAL CORE DISEASE MALIGNANT HYPERTHERMIA - SUSCEPTIBILITY TO - 1 - INCLUDED RYR1 - ILE4898THR 2168 2168 VAL MET MALIGNANT HYPERTHERMIA - SUSCEPTIBILITY TO - 1 RYR1 - VAL2168MET 2206 2206 THR MET MALIGNANT HYPERTHERMIA - SUSCEPTIBILITY TO - 1 RYR1 - THR2206MET 4826 4826 THR ILE MALIGNANT HYPERTHERMIA - SUSCEPTIBILITY TO - 1 RYR1 - THR4826ILE 4796 4796 TYR CYS CENTRAL CORE DISEASE MALIGNANT HYPERTHERMIA - SUSCEPTIBILITY TO - 1 - INCLUDED RYR1 - TYR4796CYS 4861 4861 ARG HIS CENTRAL CORE DISEASE NEUROMUSCULAR DISEASE - CONGENITAL - WITH UNIFORM TYPE 1 FIBER - INCLUDED RYR1 - ARG4861HIS 3527 3527 PRO SER CENTRAL CORE DISEASE - AUTOSOMAL RECESSIVE RYR1 - PRO3527SER 4849 4849 VAL ILE CENTRAL CORE DISEASE - AUTOSOMAL RECESSIVE MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA - INCLUDED RYR1 - VAL4849ILE 2787 2787 THR SER MALIGNANT HYPERTHERMIA - SUSCEPTIBILITY TO - 1 RYR1 - ARG2676TRP AND THR2787SER 2676 2676 ARG TRP MALIGNANT HYPERTHERMIA - SUSCEPTIBILITY TO - 1 RYR1 - ARG2676TRP AND THR2787SER 109 109 ARG TRP MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA RYR1 - ARG109TRP 2423 2423 MET LYS MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA RYR1 - MET2423LYS 3450 3450 SER PHE MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA RYR1 - SER3450PHE 4637 4637 THR ALA CENTRAL CORE DISEASE RYR1 - THR4637ALA 522 522 TYR SER MALIGNANT HYPERTHERMIA - SUSCEPTIBILITY TO - 1 CENTRAL CORE DISEASE - INCLUDED RYR1 - TYR522SER 2246 2246 SER LEU VENTRICULAR TACHYCARDIA - CATECHOLAMINERGIC POLYMORPHIC - 1; CPVT1 RYR2 - SER2246LEU 2474 2474 ARG SER VENTRICULAR TACHYCARDIA - CATECHOLAMINERGIC POLYMORPHIC - 1; CPVT1 RYR2 - ARG2474SER 4104 4104 ASN LYS VENTRICULAR TACHYCARDIA - CATECHOLAMINERGIC POLYMORPHIC - 1; CPVT1 RYR2 - ASN4104LYS 4497 4497 ARG CYS VENTRICULAR TACHYCARDIA - CATECHOLAMINERGIC POLYMORPHIC - 1; CPVT1 RYR2 - ARG4497CYS 2386 2386 ASN ILE ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA - FAMILIAL - 2 RYR2 - ASN2386ILE 433 433 LEU PRO ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA - FAMILIAL - 2 RYR2 - LEU433PRO 2328 2328 PRO SER VENTRICULAR TACHYCARDIA - CATECHOLAMINERGIC POLYMORPHIC - 1; CPVT1 RYR2 - PRO2328SER 4653 4653 VAL PHE VENTRICULAR TACHYCARDIA - CATECHOLAMINERGIC POLYMORPHIC - 1; CPVT1 RYR2 - VAL4653PHE 4201 4201 GLN ARG VENTRICULAR TACHYCARDIA - CATECHOLAMINERGIC POLYMORPHIC - 1; CPVT1 RYR2 - GLN4201ARG 4860 4860 ALA GLY VENTRICULAR TACHYCARDIA - CATECHOLAMINERGIC POLYMORPHIC - 1; CPVT1 RYR2 - ALA4860GLY 143 143 TYR CYS HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY AHCY - TYR143CYS 129 129 ILE PHE SECRETOR/NONSECRETOR POLYMORPHISM - JAPANESE TYPE FUT2 - ILE129PHE 150 150 ARG GLY DYSTONIA - DOPA-RESPONSIVE - DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY SPR - ARG150GLY 163 163 PRO LEU DYSTONIA - DOPA-RESPONSIVE - DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY SPR - PRO163LEU 425 425 ILE VAL OBSESSIVE-COMPULSIVE DISORDER - SUSCEPTIBILITY TO SLC6A4 - ILE425VAL 48 48 ALA PHE NEPHROLITHIASIS/OSTEOPOROSIS - HYPOPHOSPHATEMIC - 1 SLC34A1 - ALA48PHE 147 147 VAL MET NEPHROLITHIASIS/OSTEOPOROSIS - HYPOPHOSPHATEMIC - 1 SLC34A1 - VAL147MET 764 764 LEU PRO MIGRAINE - FAMILIAL HEMIPLEGIC - 2 ATP1A2 - LEU764PRO 887 887 TRP ARG MIGRAINE - FAMILIAL HEMIPLEGIC - 2 ATP1A2 - TRP887ARG 731 731 MET THR MIGRAINE - FAMILIAL HEMIPLEGIC - 2 ATP1A2 - MET731THR 689 689 ARG GLN MIGRAINE - FAMILIAL HEMIPLEGIC - 2 ATP1A2 - ARG689GLN 378 378 THR ASN ALTERNATING HEMIPLEGIA OF CHILDHOOD ATP1A2 - THR378ASN 301 301 GLY ARG MIGRAINE - FAMILIAL HEMIPLEGIC - 2 ATP1A2 - GLY301ARG 345 345 THR ALA MIGRAINE - FAMILIAL HEMIPLEGIC - 2 ATP1A2 - THR345ALA 718 718 ASP ASN MIGRAINE - FAMILIAL HEMIPLEGIC - 2 ATP1A2 - ASP718ASN 979 979 PRO LEU MIGRAINE - FAMILIAL HEMIPLEGIC - 2 ATP1A2 - PRO979LEU 548 548 ARG HIS MIGRAINE - FAMILIAL BASILAR ATP1A2 - ARG548HIS 286 286 ILE THR MIGRAINE - FAMILIAL HEMIPLEGIC - 2 ATP1A2 - ILE286THR 415 415 THR MET MIGRAINE - FAMILIAL HEMIPLEGIC - 2 ATP1A2 - THR415MET 65 65 ARG TRP MIGRAINE - FAMILIAL HEMIPLEGIC - 2 ATP1A2 - ARG65TRP 376 376 THR MET MIGRAINE - FAMILIAL HEMIPLEGIC - 2 ATP1A2 - THR376MET 613 613 THR MET DYSTONIA 12 ATP1A3 - THR613MET 274 274 ILE THR DYSTONIA 12 ATP1A3 - ILE274THR 277 277 GLU LYS DYSTONIA 12 ATP1A3 - GLU277LYS 758 758 ILE SER DYSTONIA 12 ATP1A3 - ILE758SER 780 780 PHE LEU DYSTONIA 12 ATP1A3 - PHE780LEU 801 801 ASP TYR DYSTONIA 12 ATP1A3 - ASP801TYR 923 923 ASP ASN DYSTONIA 12 ATP1A3 - ASP923ASN 28 28 ASP ASN GLUCOSE/GALACTOSE MALABSORPTION SLC5A1 - ASP28ASN 28 28 ASP GLY GLUCOSE/GALACTOSE MALABSORPTION SLC5A1 - ASP28GLY 654 654 ASN SER RENAL GLUCOSURIA SLC5A2 - ASN654SER 1648 1648 ARG HIS GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS - TYPE 2 SCN1A - ARG1648HIS 875 875 THR MET GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS - TYPE 2 SCN1A - THR875MET 188 188 ASP VAL GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS - TYPE 2 SCN1A - ASP188VAL 1353 1353 VAL LEU GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS - TYPE 2 SCN1A - VAL1353LEU 1656 1656 ILE MET GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS - TYPE 2 SCN1A - ILE1656MET 1204 1204 TRP ARG GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS - TYPE 2 SCN1A - TRP1204ARG 986 986 LEU PHE DRAVET SYNDROME SCN1A - LEU986PHE 1270 1270 LYS THR GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS - TYPE 2 SCN1A - LYS1270THR 1428 1428 VAL ALA GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS - TYPE 2 SCN1A - VAL1428ALA 1489 1489 GLN LYS MIGRAINE - FAMILIAL HEMIPLEGIC - 3 SCN1A - GLN1489LYS 1709 1709 THR ILE DRAVET SYNDROME GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS - TYPE 2 - INCLUDED SCN1A - THR1709ILE 1611 1611 VAL PHE DRAVET SYNDROME GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS - TYPE 2 - INCLUDED SCN1A - VAL1611PHE 145 145 MET THR FEBRILE SEIZURES - FAMILIAL - 3A SCN1A - MET145THR 1499 1499 PHE LEU MIGRAINE - FAMILIAL HEMIPLEGIC - 3 SCN1A - PHE1499LEU 1489 1489 GLN HIS MIGRAINE - FAMILIAL HEMIPLEGIC - 3 SCN1A - GLN1489HIS 188 188 ARG TRP SEIZURES - BENIGN FAMILIAL INFANTILE - 3 SCN2A - ARG188TRP 1330 1330 LEU PHE SEIZURES - BENIGN FAMILIAL INFANTILE - 3 SCN2A - LEU1330PHE 1563 1563 LEU VAL SEIZURES - BENIGN FAMILIAL INFANTILE - 3 SCN2A - LEU1563VAL 892 892 VAL ILE SEIZURES - BENIGN FAMILIAL INFANTILE - 3 SCN2A - VAL892ILE 223 223 ARG GLN SEIZURES - BENIGN FAMILIAL INFANTILE - 3 SCN2A - ARG223GLN 1319 1319 ARG GLN SEIZURES - BENIGN FAMILIAL INFANTILE - 3 SCN2A - ARG1319GLN 1003 1003 LEU ILE SEIZURES - BENIGN FAMILIAL INFANTILE - 3 SCN2A - LEU1003ILE 1211 1211 GLU LYS EPILEPTIC ENCEPHALOPATHY - EARLY INFANTILE - 11 SCN2A - GLU1211LYS 1473 1473 ILE MET EPILEPTIC ENCEPHALOPATHY - EARLY INFANTILE - 11 SCN2A - ILE1473MET 263 263 ALA VAL EPILEPTIC ENCEPHALOPATHY - EARLY INFANTILE - 11 - MILD SCN2A - ALA263VAL 252 252 MET VAL SEIZURES - BENIGN FAMILIAL INFANTILE - 3 SCN2A - MET252VAL 240 240 ARG TRP SOMATOSTATIN ANALOG - RESISTANCE TO SSTR5 - ARG240TRP 266 266 THR LYS NOONAN SYNDROME 4 SOS1 - THR266LYS 269 269 MET ARG NOONAN SYNDROME 4 SOS1 - MET269ARG 552 552 ARG GLY NOONAN SYNDROME 4 SOS1 - ARG552GLY 552 552 ARG SER NOONAN SYNDROME 4 SOS1 - ARG552SER 432 432 TRP ARG NOONAN SYNDROME 4 SOS1 - TRP432ARG 260 260 LEU PRO ELLIPTOCYTOSIS 2 SPTA1 - LEU260PRO 471 471 GLN PRO ELLIPTOCYTOSIS 2 SPTA1 - GLN471PRO 261 261 SER PRO ELLIPTOCYTOSIS 2 SPTA1 - SER261PRO 45 45 ARG SER PYROPOIKILOCYTOSIS - HEREDITARY ELLIPTOCYTOSIS 2 - INCLUDED SPTA1 - ARG45SER 46 46 GLY VAL ELLIPTOCYTOSIS 2 SPTA1 - GLY46VAL 48 48 LEU PHE ELLIPTOCYTOSIS 2 SPTA1 - LEU48PHE 970 970 ALA ASP SPHEROCYTOSIS - TYPE 3 - AUTOSOMAL RECESSIVE SPTA1 - ALA970ASP 41 41 ARG TRP ELLIPTOCYTOSIS 2 SPTA1 - ARG41TRP 28 28 ARG LEU ELLIPTOCYTOSIS 2 SPTA1 - ARG28LEU 28 28 ARG SER ELLIPTOCYTOSIS 2 PYROPOIKILOCYTOSIS - HEREDITARY - INCLUDED SPTA1 - ARG28SER 28 28 ARG CYS ELLIPTOCYTOSIS 2 PYROPOIKILOCYTOSIS - HEREDITARY - INCLUDED SPTA1 - ARG28CYS 28 28 ARG HIS ELLIPTOCYTOSIS 2 PYROPOIKILOCYTOSIS - HEREDITARY - INCLUDED SPTA1 - ARG28HIS 207 207 LEU PRO PYROPOIKILOCYTOSIS - HEREDITARY ELLIPTOCYTOSIS 2 - INCLUDED SPTA1 - LEU207PRO 48 48 LYS ARG PYROPOIKILOCYTOSIS - HEREDITARY SPTA1 - LYS48ARG 791 791 ASP GLU ELLIPTOCYTOSIS 2 SPTA1 - ASP791GLU 2053 2053 ALA PRO ELLIPTOCYTOSIS 3 SPTB - ALA2053PRO 202 202 TRP ARG SPHEROCYTOSIS - TYPE 2 - AUTOSOMAL DOMINANT SPECTRIN KISSIMMEE SPTB - TRP202ARG 2018 2018 ALA GLY PYROPOIKILOCYTOSIS - HEREDITARY ELLIPTOCYTOSIS 3 - INCLUDED SPTB - ALA2018GLY 2019 2019 SER PRO SPECTRIN PROVIDENCE SPTB - SER2019PRO 2025 2025 LEU ARG ANEMIA - NEONATAL HEMOLYTIC - FATAL AND NEAR-FATAL SPTB - LEU2025ARG 2064 2064 ARG PRO ELLIPTOCYTOSIS 3 DUE TO SPECTRIN COSENZA SPTB - ARG2064PRO 1 1 MET VAL ELLIPTOCYTOSIS 3 DUE TO SPECTRIN PROMISSAO SPTB - MET1VAL 97 97 LEU PRO MICROPHTHALMIA - SYNDROMIC 3 SOX2 - LEU97PRO 74 74 ARG PRO MICROPHTHALMIA - SYNDROMIC 3 SOX2 - ARG74PRO 46 46 ASN LYS MICROPHTHALMIA - SYNDROMIC 3 SOX2 - ASN46LYS 130 130 GLY ALA OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM SOX2 - GLY130ALA 191 191 ALA THR OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM SOX2 - ALA191THR 36 36 ASN SER HYPERPIGMENTATION - FAMILIAL PROGRESSIVE KITLG - ASN36SER 35 35 GLY GLU 46 -XY GONADAL DYSGENESIS - COMPLETE - WITH ADRENAL FAILURE NR5A1 - GLY35GLU 255 255 ARG LEU ADRENOCORTICAL INSUFFICIENCY NR5A1 - ARG255LEU 92 92 ARG GLN 46 -XY GONADAL DYSGENESIS - COMPLETE - WITH ADRENAL FAILURE NR5A1 - ARG92GLN 15 15 VAL MET 46 -XY GONADAL DYSGENESIS - COMPLETE - WITHOUT ADRENAL FAILURE NR5A1 - VAL15MET 78 78 MET ILE 46 -XY GONADAL DYSGENESIS - COMPLETE - WITHOUT ADRENAL FAILURE NR5A1 - MET78ILE 91 91 GLY SER 46 -XY GONADAL DYSGENESIS - COMPLETE - WITHOUT ADRENAL FAILURE NR5A1 - GLY91SER 437 437 LEU GLN 46 -XY GONADAL DYSGENESIS - COMPLETE - WITHOUT ADRENAL FAILURE NR5A1 - LEU437GLN 293 293 ASP ASN 46 -XY GONADAL DYSGENESIS - COMPLETE - WITHOUT ADRENAL FAILURE PREMATURE OVARIAN FAILURE 7 - INCLUDED NR5A1 - ASP293ASN 1 1 MET ILE 46 -XY GONADAL DYSGENESIS - PARTIAL - WITHOUT ADRENAL FAILURE PREMATURE OVARIAN FAILURE 7 - INCLUDED NR5A1 - MET1ILE 129 129 PRO LEU PREMATURE OVARIAN FAILURE 7 NR5A1 - GLY123ALA AND PRO129LEU 123 123 GLY ALA PREMATURE OVARIAN FAILURE 7 NR5A1 - GLY123ALA AND PRO129LEU 197 197 PRO ARG PARAGANGLIOMAS 4 SDHB - PRO197ARG 242 242 ARG HIS PARAGANGLIOMAS 4 PHEOCHROMOCYTOMA - INCLUDED SDHB - ARG242HIS 46 46 ARG GLY PHEOCHROMOCYTOMA SDHB - ARG46GLY 101 101 CYS TYR PHEOCHROMOCYTOMA SDHB - CYS101TYR 132 132 HIS PRO PARAGANGLIOMAS 4 SDHB - HIS132PRO 100 100 SER PHE PHEOCHROMOCYTOMA SDHB - SER100PHE 3 3 ALA GLY COWDEN-LIKE SYNDROME SDHB - ALA3GLY 163 163 SER PRO COWDEN-LIKE SYNDROME SDHB - SER163PRO 140 140 VAL PHE PARAGANGLIOMAS 4 SDHB - VAL140PHE 213 213 ARG GLY SUPEROXIDE DISMUTASE - ELEVATED EXTRACELLULAR SOD3 - ARG213GLY 66 66 CYS TYR DIARRHEA 5 - WITH TUFTING ENTEROPATHY - CONGENITAL EPCAM - CYS66TYR 274 274 TYR ASP LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY SURF1 - TYR274ASP 124 124 GLY GLU LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY SURF1 - GLY124GLU 271 280 THR ILE OBESITY - ASSOCIATION WITH SDC3 - THR271ILE 150 159 VAL ILE OBESITY - ASSOCIATION WITH SDC3 - VAL150ILE 1 1 MET VAL IMMUNODEFICIENCY DUE TO DEFECT IN CD3-GAMMA CD3G - MET1VAL 70 70 GLN TRP IMMUNODEFICIENCY DUE TO DEFECT IN CD3-ZETA - SOMATIC CD3Z - GLN70TRP 70 70 GLN LEU IMMUNODEFICIENCY DUE TO DEFECT IN CD3-ZETA - SOMATIC CD3Z - GLN70LEU 70 70 GLN TYR IMMUNODEFICIENCY DUE TO DEFECT IN CD3-ZETA - SOMATIC CD3Z - GLN70TYR 90 91 GLY SER CD8 DEFICIENCY - FAMILIAL CD8A - GLY90SER 335 335 ARG TRP LYMPHOPROLIFERATIVE SYNDROME - EBV-ASSOCIATED - AUTOSOMAL - 1 ITK - ARG335TRP 202 202 ALA THR APLASTIC ANEMIA - SUSCEPTIBILITY TO TERT - ALA202THR 412 412 HIS TYR APLASTIC ANEMIA - SUSCEPTIBILITY TO TERT - HIS412TYR 694 694 VAL MET APLASTIC ANEMIA - SUSCEPTIBILITY TO TERT - VAL694MET 772 772 TYR CYS APLASTIC ANEMIA - SUSCEPTIBILITY TO TERT - TYR772CYS 1090 1090 VAL MET APLASTIC ANEMIA - SUSCEPTIBILITY TO TERT - VAL1090MET 902 902 LYS ASN DYSKERATOSIS CONGENITA - AUTOSOMAL DOMINANT TERT - LYS902ASN 865 865 ARG HIS PULMONARY FIBROSIS - IDIOPATHIC - SUSCEPTIBILITY TO TERT - ARG865HIS 125 125 PRO LEU FOREBRAIN DEFECTS TDGF1 - PRO125LEU 125 125 PRO LEU FOREBRAIN DEFECTS TDGF1 - PRO125LEU 80 80 ALA PRO THIOPURINE S-METHYLTRANSFERASE DEFICIENCY TPMT - ALA80PRO 240 240 TYR CYS THIOPURINE S-METHYLTRANSFERASE DEFICIENCY TPMT - ALA154THR AND TYR240CYS 154 154 ALA THR THIOPURINE S-METHYLTRANSFERASE DEFICIENCY TPMT - ALA154THR AND TYR240CYS 154 154 ALA THR THIOPURINE S-METHYLTRANSFERASE DEFICIENCY TPMT - ALA154THR 240 240 TYR CYS THIOPURINE S-METHYLTRANSFERASE DEFICIENCY TPMT - TYR240CYS 215 215 ARG HIS THIOPURINE S-METHYLTRANSFERASE DEFICIENCY TPMT - ARG215HIS 167 167 ALA GLY THIOPURINE S-METHYLTRANSFERASE DEFICIENCY TPMT - ALA167GLY 468 468 ASP TYR THROMBOPHILIA DUE TO THROMBOMODULIN DEFECT THBD - ASP468TYR 25 25 ALA THR MYOCARDIAL INFARCTION - SUSCEPTIBILITY TO THBD - ALA25THR 43 43 ALA THR HEMOLYTIC UREMIC SYNDROME - ATYPICAL - SUSCEPTIBILITY TO - 6 THBD - ALA43THR 53 53 ASP GLY HEMOLYTIC UREMIC SYNDROME - ATYPICAL - SUSCEPTIBILITY TO - 6 THBD - ASP53GLY 495 495 PRO SER HEMOLYTIC UREMIC SYNDROME - ATYPICAL - SUSCEPTIBILITY TO - 6 THBD - PRO495SER 60 60 ARG LEU BLEEDING DISORDER DUE TO DEFECTIVE THROMBOXANE A2 RECEPTOR TBXA2R - ARG60LEU 163 121 HIS ASN MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) TK2 - HIS163ASN 254 212 ILE ASN MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) TK2 - ILE254ASN 150 108 THR MET MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) TK2 - THR150MET 95 53 ILE MET MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) TK2 - ILE95MET 690 690 ARG CYS CARDIOMYOPATHY - DILATED - 1T TMPO - ARG690CYS 690 690 ARG CYS CARDIOMYOPATHY - DILATED - 1T TMPO - ARG690CYS 870 870 GLN HIS RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE TG - GLN870HIS 1245 1264 CYS ARG THYROID DYSHORMONOGENESIS 3 TG - CYS1245ARG 1977 1996 CYS SER THYROID DYSHORMONOGENESIS 3 TG - CYS1977SER 1980 1999 ARG TRP AUTOIMMUNE THYROID DISEASE - SUSCEPTIBILITY TO - 3 TG - ARG1980TRP 734 734 SER ALA AUTOIMMUNE THYROID DISEASE - SUSCEPTIBILITY TO - 3 TG - SER734ALA 1027 1027 MET VAL AUTOIMMUNE THYROID DISEASE - SUSCEPTIBILITY TO - 3 TG - MET1027VAL 2223 2242 ARG HIS THYROID DYSHORMONOGENESIS 3 TG - ARG2223HIS 1058 1077 CYS ARG THYROID DYSHORMONOGENESIS 3 TG - CYS1058ARG 2356 2375 GLY ARG THYROID DYSHORMONOGENESIS 3 TG - GLY2356ARG 1897 1897 CYS TYR THYROID DYSHORMONOGENESIS 3 TG - CYS1897TYR 2336 2336 ARG GLN THYROID DYSHORMONOGENESIS 3 TG - ARG2336GLN 29 29 GLY ARG HYPOTHYROIDISM - CONGENITAL - NONGOITROUS - 4 TSHB - GLY29ARG 118 118 ALA THR THYROTROPIN-RELEASING HORMONE RESISTANCE - GENERALIZED TRHR - 9-BP DEL AND ALA118THR 181 204 SER CYS SORSBY FUNDUS DYSTROPHY TIMP3 - SER181CYS 168 191 TYR CYS SORSBY FUNDUS DYSTROPHY TIMP3 - TYR168CYS 156 179 SER CYS SORSBY FUNDUS DYSTROPHY TIMP3 - SER156CYS 166 189 GLY CYS SORSBY FUNDUS DYSTROPHY - LAVIA TYPE TIMP3 - GLY166CYS 74 74 ARG CYS CARNEY COMPLEX - TYPE 1 PRKAR1A - ARG74CYS 740 740 ARG LEU CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 9 TTN - ARG740LEU 930 930 TRP ARG CARDIOMYOPATHY - DILATED - 1G TTN - TRP930ARG 34315 34315 LEU PRO TIBIAL MUSCULAR DYSTROPHY - TARDIVE TTN - LEU34315PRO 743 743 ALA VAL CARDIOMYOPATHY - DILATED - 1G TTN - ALA743VAL 54 54 VAL MET CARDIOMYOPATHY - DILATED - 1G TTN - VAL54MET 4465 4465 SER ASN CARDIOMYOPATHY - DILATED - 1G TTN - SER4465ASN 279 279 ARG TRP HEREDITARY MYOPATHY WITH EARLY RESPIRATORY FAILURE TTN - ARG279TRP 465 465 SER ARG DIABETES MELLITUS - NONINSULIN-DEPENDENT HNF1B - SER465ARG 148 148 SER TRP RENAL CYSTS AND DIABETES SYNDROME HNF1B - SER148TRP 165 165 ARG HIS RENAL CYSTS AND DIABETES SYNDROME HNF1B - ARG165HIS 78 78 ASN THR CORNEAL DYSTROPHY - FUCHS ENDOTHELIAL - 6 ZEB1 - ASN78THR 840 840 GLN PRO CORNEAL DYSTROPHY - FUCHS ENDOTHELIAL - 6 ZEB1 - GLN840PRO 421 421 TYR HIS SVEINSSON CHOREORETINAL ATROPHY TEAD1 - TYR421HIS 315 315 THR ILE LEUKEMIA - PHILADELPHIA CHROMOSOME-POSITIVE - RESISTANT TO IMATINIB ABL1 - THR315ILE 255 255 GLU VAL LEUKEMIA - PHILADELPHIA CHROMOSOME-POSITIVE - RESISTANT TO IMATINIB ABL1 - GLU255VAL 255 255 GLU LYS LEUKEMIA - PHILADELPHIA CHROMOSOME-POSITIVE - RESISTANT TO IMATINIB ABL1 - GLU255LYS 253 253 TYR HIS LEUKEMIA - PHILADELPHIA CHROMOSOME-POSITIVE - RESISTANT TO IMATINIB ABL1 - TYR253HIS 311 311 PHE LEU CHRONIC MYELOID LEUKEMIA - RESISTANT TO IMATINIB ABL1 - PHE311LEU 351 351 MET THR CHRONIC MYELOID LEUKEMIA - RESISTANT TO IMATINIB ABL1 - MET351THR 277 277 GLY ASP TRANSFERRIN VARIANT D1 TF - GLY277ASP 300 319 HIS ARG TRANSFERRIN VARIANT CHI TF - HIS300ARG 652 671 GLY GLU TRANSFERRIN VARIANT B2 TF - GLY652GLU 570 589 PRO SER TRANSFERRIN VARIANT C1/C2 ALZHEIMER DISEASE - SUSCEPTIBILITY TO - INCLUDED TF - PRO570SER 627 646 LYS GLU TRANSFERRIN VARIANT Bv TF - LYS627GLU 477 477 ALA PRO ATRANSFERRINEMIA TF - ALA477PRO 277 277 GLY SER RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE TF - GLY277SER 375 394 GLU LYS ATRANSFERRINEMIA TF - GLU375LYS 77 77 ASP ASN ATRANSFERRINEMIA TF - ASP77ASN 12 12 GLY VAL BLADDER CANCER - SOMATIC COSTELLO SYNDROME - INCLUDED;; MYOPATHY - CONGENITAL - WITH EXCESS OF MUSCLE SPINDLES - INCLUDED HRAS - GLY12VAL 61 61 GLN LYS THYROID CARCINOMA - FOLLICULAR - SOMATIC HRAS - GLN61LYS 12 12 GLY SER COSTELLO SYNDROME MYOPATHY - CONGENITAL - WITH EXCESS OF MUSCLE SPINDLES - INCLUDED HRAS - GLY12SER 12 12 GLY ALA COSTELLO SYNDROME HRAS - GLY12ALA 13 13 GLY ASP COSTELLO SYNDROME HRAS - GLY13ASP 117 117 LYS ARG COSTELLO SYNDROME HRAS - LYS117ARG 13 13 GLY CYS COSTELLO SYNDROME HRAS - GLY13CYS 146 146 ALA THR COSTELLO SYNDROME HRAS - ALA146THR 63 63 GLU LYS MYOPATHY - CONGENITAL - WITH EXCESS OF MUSCLE SPINDLES HRAS - GLU63LYS 22 22 GLN LYS MYOPATHY - CONGENITAL - WITH EXCESS OF MUSCLE SPINDLES HRAS - GLN22LYS 58 58 THR ILE COSTELLO SYNDROME HRAS - THR58ILE 146 146 ALA VAL COSTELLO SYNDROME HRAS - ALA146VAL 12 12 GLY ASP COSTELLO SYNDROME - SEVERE HRAS - GLY12ASP 12 12 GLY CYS COSTELLO SYNDROME HRAS - GLY12CYS 12 12 GLY CYS LUNG CANCER - SOMATIC KRAS - GLY12CYS 12 12 GLY ARG LUNG CANCER - SQUAMOUS CELL - SOMATIC BLADDER CANCER - SOMATIC - INCLUDED KRAS - GLY12ARG 13 13 GLY ASP BREAST ADENOCARCINOMA - SOMATIC KRAS - GLY13ASP 59 59 ALA THR BLADDER CANCER - TRANSITIONAL CELL - SOMATIC KRAS - ALA59THR 12 12 GLY ASP PANCREATIC CARCINOMA - SOMATIC GASTRIC CANCER - SOMATIC - INCLUDED KRAS - GLY12ASP 12 12 GLY VAL PANCREATIC CARCINOMA - SOMATIC KRAS - GLY12VAL 12 12 GLY SER GASTRIC CANCER - SOMATIC KRAS - GLY12SER 60 60 GLY ARG CARDIOFACIOCUTANEOUS SYNDROME KRAS - GLY60ARG 153 153 ASP VAL CARDIOFACIOCUTANEOUS SYNDROME NOONAN SYNDROME 3 - INCLUDED KRAS - ASP153VAL 58 58 THR ILE NOONAN SYNDROME 3 KRAS - THR58ILE 14 14 VAL ILE NOONAN SYNDROME 3 KRAS - VAL14ILE 34 34 PRO ARG CARDIOFACIOCUTANEOUS SYNDROME KRAS - PRO34ARG 152 152 VAL GLY NOONAN SYNDROME 3 KRAS - VAL152GLY 153 153 ASP VAL NOONAN SYNDROME 3 KRAS - ASP153VAL 13 13 GLY ARG PILOCYTIC ASTROCYTOMA - SOMATIC KRAS - GLY13ARG 5 5 LYS ASN CARDIOFACIOCUTANEOUS SYNDROME KRAS - LYS5ASN 156 156 PHE LEU CARDIOFACIOCUTANEOUS SYNDROME KRAS - PHE156LEU 5 5 LYS GLU NOONAN SYNDROME 3 KRAS - LYS5GLU 60 60 GLY SER NOONAN SYNDROME 3 KRAS - GLY60SER 57 57 PRO SER BURKITT LYMPHOMA MYC - PRO57SER 86 86 ASN THR BURKITT LYMPHOMA MYC - ASN86THR 39 39 GLU ASP BURKITT LYMPHOMA MYC - GLU39ASP 59 59 PRO ALA BURKITT LYMPHOMA MYC - PRO59ALA 345 345 GLY ARG THYROID HORMONE RESISTANCE - GENERALIZED - AUTOSOMAL DOMINANT THRB - GLY345ARG 453 453 PRO HIS THYROID HORMONE RESISTANCE - GENERALIZED - AUTOSOMAL DOMINANT THRB - PRO453HIS 340 340 GLN HIS THYROID HORMONE RESISTANCE - GENERALIZED - AUTOSOMAL DOMINANT THRB - GLN340HIS 317 317 ALA THR THYROID HORMONE RESISTANCE - GENERALIZED - AUTOSOMAL DOMINANT THRB - ALA317THR 332 332 GLY ARG THYROID HORMONE RESISTANCE - GENERALIZED - AUTOSOMAL DOMINANT THRB - GLY332ARG 345 345 GLY VAL THYROID HORMONE RESISTANCE - GENERALIZED - AUTOSOMAL DOMINANT THRB - GLY345VAL 347 347 GLY GLU THYROID HORMONE RESISTANCE - GENERALIZED - AUTOSOMAL DOMINANT THRB - GLY347GLU 442 442 MET VAL THYROID HORMONE RESISTANCE - GENERALIZED - AUTOSOMAL DOMINANT THRB - MET442VAL 453 453 PRO THR THYROID HORMONE RESISTANCE - GENERALIZED - AUTOSOMAL DOMINANT THRB - PRO453THR 443 443 LYS GLU THYROID HORMONE RESISTANCE - GENERALIZED - AUTOSOMAL DOMINANT THRB - LYS443GLU 345 345 GLY SER THYROID HORMONE RESISTANCE - GENERALIZED - AUTOSOMAL DOMINANT THRB - GLY345SER 320 320 ARG HIS THYROID HORMONE RESISTANCE - GENERALIZED - AUTOSOMAL DOMINANT THRB - ARG320HIS 234 234 ALA THR THYROID HORMONE RESISTANCE - GENERALIZED - AUTOSOMAL DOMINANT THRB - ALA234THR 316 316 ARG HIS THYROID HORMONE RESISTANCE - SELECTIVE PITUITARY THRB - ARG316HIS 325 325 LEU PHE THYROID HORMONE RESISTANCE - SELECTIVE PITUITARY THRB - LEU325PHE 320 320 ARG CYS THYROID HORMONE RESISTANCE - GENERALIZED - AUTOSOMAL DOMINANT THRB - ARG320CYS 338 338 ARG TRP THYROID HORMONE RESISTANCE - GENERALIZED - AUTOSOMAL DOMINANT THYROID HORMONE RESISTANCE - SELECTIVE PITUITARY - INCLUDED THRB - ARG338TRP 438 438 ARG HIS THYROID HORMONE RESISTANCE - GENERALIZED - AUTOSOMAL DOMINANT THRB - ARG438HIS 310 310 MET THR THYROID HORMONE RESISTANCE - GENERALIZED THRB - MET310THR 322 322 ASP HIS THYROID HORMONE RESISTANCE - GENERALIZED THRB - ASP322HIS 345 345 GLY ASP THYROID HORMONE RESISTANCE - GENERALIZED THRB - GLY345ASP 450 450 LEU HIS THYROID HORMONE RESISTANCE - GENERALIZED THRB - LEU450HIS 459 459 PHE CYS THYROID HORMONE RESISTANCE - GENERALIZED THRB - PHE459CYS 320 320 ARG LEU THYROID HORMONE RESISTANCE - SELECTIVE PITUITARY THRB - ARG320LEU 446 446 CYS ARG THYROID HORMONE RESISTANCE - GENERALIZED - AUTOSOMAL DOMINANT THRB - CYS446ARG 458 458 VAL ALA THYROID HORMONE RESISTANCE - GENERALIZED - AUTOSOMAL RECESSIVE THRB - VAL458ALA 243 243 ARG GLN THYROID HORMONE RESISTANCE - GENERALIZED - AUTOSOMAL DOMINANT THRB - ARG243GLN 243 243 ARG TRP THYROID HORMONE RESISTANCE - GENERALIZED - AUTOSOMAL DOMINANT THRB - ARG243TRP 383 383 ARG HIS THYROID HORMONE RESISTANCE - GENERALIZED - AUTOSOMAL DOMINANT THRB - ARG383HIS 337 337 THR ALA THYROID HORMONE RESISTANCE - SELECTIVE PITUITARY THRB - THR337ALA 225 225 CYS ARG CAMURATI-ENGELMANN DISEASE TGFB1 - CYS225ARG 218 218 ARG HIS CAMURATI-ENGELMANN DISEASE TGFB1 - ARG218HIS 218 218 ARG CYS CAMURATI-ENGELMANN DISEASE TGFB1 - ARG218CYS 81 81 TYR HIS CAMURATI-ENGELMANN DISEASE TGFB1 - TYR81HIS 223 223 CYS ARG CAMURATI-ENGELMANN DISEASE TGFB1 - CYS223ARG 223 223 CYS GLY CAMURATI-ENGELMANN DISEASE TGFB1 - CYS223GLY 318 318 MET ARG LOEYS-DIETZ SYNDROME - TYPE 1A TGFBR1 - MET318ARG 400 400 ASP GLY LOEYS-DIETZ SYNDROME - TYPE 1A TGFBR1 - ASP400GLY 200 200 THR ILE LOEYS-DIETZ SYNDROME - TYPE 1A TGFBR1 - THR200ILE 487 487 ARG PRO LOEYS-DIETZ SYNDROME - TYPE 1A LOEYS-DIETZ SYNDROME - TYPE 2A - INCLUDED TGFBR1 - ARG487PRO 241 241 SER LEU LOEYS-DIETZ SYNDROME - TYPE 1A TGFBR1 - SER241LEU 487 487 ARG GLN LOEYS-DIETZ SYNDROME - TYPE 2A TGFBR1 - ARG487GLN 487 487 ARG TRP LOEYS-DIETZ SYNDROME - TYPE 2A TGFBR1 - ARG487TRP 174 174 GLY VAL LOEYS-DIETZ SYNDROME - TYPE 2A TGFBR1 - GLY174VAL 315 315 THR MET COLORECTAL CANCER - HEREDITARY NONPOLYPOSIS - TYPE 6 TGFBR2 - THR315MET 526 526 GLU GLN ESOPHAGEAL CANCER - SOMATIC TGFBR2 - GLU526GLN 508 508 GLN GLN LOEYS-DIETZ SYNDROME - TYPE 2B TGFBR2 - GLN508GLN 308 308 LEU PRO LOEYS-DIETZ SYNDROME - TYPE 2B LOEYS-DIETZ SYNDROME - TYPE 1B - INCLUDED TGFBR2 - LEU308PRO 449 449 SER PHE LOEYS-DIETZ SYNDROME - TYPE 2B TGFBR2 - SER449PHE 537 537 ARG CYS LOEYS-DIETZ SYNDROME - TYPE 2B TGFBR2 - ARG537CYS 336 336 TYR ASN LOEYS-DIETZ SYNDROME - TYPE 1B TGFBR2 - TYR336ASN 355 355 ALA PRO LOEYS-DIETZ SYNDROME - TYPE 1B TGFBR2 - ALA355PRO 357 357 GLY TRP LOEYS-DIETZ SYNDROME - TYPE 1B TGFBR2 - GLY357TRP 528 528 ARG HIS LOEYS-DIETZ SYNDROME - TYPE 1B COLON CANCER - HEREDITARY NONPOLYPOSIS - TYPE 6 - SOMATIC - INCLUDED TGFBR2 - ARG528HIS 528 528 ARG CYS LOEYS-DIETZ SYNDROME - TYPE 1B TGFBR2 - ARG528CYS 460 460 ARG CYS LOEYS-DIETZ SYNDROME - TYPE 2B TGFBR2 - ARG460CYS 460 460 ARG HIS LOEYS-DIETZ SYNDROME - TYPE 2B TGFBR2 - ARG460HIS 425 425 MET VAL LOEYS-DIETZ SYNDROME - TYPE 2B TGFBR2 - MET425VAL 427 427 PRO LEU LOEYS-DIETZ SYNDROME - TYPE 2B TGFBR2 - PRO427LEU 42 42 SER TYR ICHTHYOSIS - LAMELLAR - 1 TGM1 - SER42TYR 142 142 ARG CYS ICHTHYOSIS - LAMELLAR - 1 ICHTHYOSIFORM ERYTHRODERMA - CONGENITAL - NONBULLOUS - 1 - INCLUDED TGM1 - ARG142CYS 323 323 ARG GLN ICHTHYOSIS - LAMELLAR - 1 TGM1 - ARG323GLN 141 141 ARG HIS ICHTHYOSIS - LAMELLAR - 1 ICHTHYOSIFORM ERYTHRODERMA - CONGENITAL - NONBULLOUS - 1 - INCLUDED TGM1 - ARG141HIS 142 142 ARG HIS ICHTHYOSIS - LAMELLAR - 1 TGM1 - ARG142HIS 378 378 VAL LEU ICHTHYOSIFORM ERYTHRODERMA - CONGENITAL - NONBULLOUS - 1 ICHTHYOSIS - LAMELLAR - 1 - INCLUDED TGM1 - VAL378LEU 395 395 ARG LEU ICHTHYOSIFORM ERYTHRODERMA - CONGENITAL - NONBULLOUS - 1 ICHTHYOSIS - LAMELLAR - 1 - INCLUDED TGM1 - ARG395LEU 382 382 VAL MET ICHTHYOSIS - LAMELLAR - 1 - WITH SPARING OF LIMBS TGM1 - VAL382MET 388 388 ARG HIS ICHTHYOSIFORM ERYTHRODERMA - CONGENITAL - NONBULLOUS - 1 TGM1 - ARG388HIS 490 490 ASP GLY SELF-HEALING COLLODION BABY TGM1 - ASP490GLY 278 278 GLY ARG SELF-HEALING COLLODION BABY ICHTHYOSIS - LAMELLAR - 1 - INCLUDED TGM1 - GLY278ARG 392 392 GLY ASP ICHTHYOSIS - LAMELLAR - 1 TGM1 - GLY392ASP 286 286 ARG GLN ICHTHYOSIS - LAMELLAR - 1 TGM1 - ARG286GLN 518 518 VAL MET ICHTHYOSIS - LAMELLAR - 1 TGM1 - VAL518MET 160 160 SER CYS ICHTHYOSIS - LAMELLAR - 1 TGM1 - SER160CYS 94 94 GLY ASP ICHTHYOSIS - LAMELLAR - 1 TGM1 - GLY94ASP 288 288 ASN THR ICHTHYOSIS - LAMELLAR - 1 TGM1 - ASN288THR 306 306 ARG TRP ICHTHYOSIS - LAMELLAR - 1 TGM1 - ARG306TRP 17 17 GLY SER ICHTHYOSIS - LAMELLAR - 1 TGM1 - GLY17SER 104 142 GLU ASP TRIOSEPHOSPHATE ISOMERASE DEFICIENCY TPI1 - GLU104ASP 122 160 GLY ARG TRIOSEPHOSPHATE ISOMERASE MANCHESTER TPI-MANCHESTER TPI1 - GLY122ARG 240 278 PHE LEU TRIOSEPHOSPHATE ISOMERASE DEFICIENCY TPI-HUNGARY TPI1 - PHE240LEU 41 79 CYS TYR TRIOSEPHOSPHATE ISOMERASE DEFICIENCY TPI1 - CYS41TYR 170 208 ILE VAL TRIOSEPHOSPHATE ISOMERASE DEFICIENCY TPI1 - ILE170VAL 91 91 ARG GLY ARTHROGRYPOSIS - DISTAL - TYPE 1 TPM2 - ARG91GLY 147 147 GLN PRO NEMALINE MYOPATHY 4 TPM2 - GLN147PRO 117 117 GLU LYS NEMALINE MYOPATHY 4 TPM2 - GLU117LYS 133 133 ARG TRP ARTHROGRYPOSIS - DISTAL - TYPE 2B TPM2 - ARG133TRP 41 41 GLU LYS NEMALINE MYOPATHY 4 TPM2 - GLU41LYS 202 202 ASN LYS CAP MYOPATHY - TPM2-RELATED TPM2 - ASN202LYS 180 180 GLU GLY CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 3 TPM1 - GLU180GLY 175 175 ASP ASN CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 3 TPM1 - ASP175ASN 95 95 VAL ALA CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 3 TPM1 - VAL95ALA 54 54 GLU LYS CARDIOMYOPATHY - DILATED - 1Y TPM1 - GLU54LYS 40 40 GLU LYS CARDIOMYOPATHY - DILATED - 1Y TPM1 - GLU40LYS 9 8 MET ARG NEMALINE MYOPATHY 1 TPM3 - MET9ARG 168 167 ARG HIS NEMALINE MYOPATHY 1 MYOPATHY - CONGENITAL - WITH FIBER-TYPE DISPROPORTION - INCLUDED;; CAP MYOPATHY - TPM3-RELATED - INCLUDED TPM3 - ARG168HIS 100 99 LEU MET MYOPATHY - CONGENITAL - WITH FIBER-TYPE DISPROPORTION TPM3 - LEU100MET 168 167 ARG GLY MYOPATHY - CONGENITAL - WITH FIBER-TYPE DISPROPORTION TPM3 - ARG168GLY 168 167 ARG CYS MYOPATHY - CONGENITAL - WITH FIBER-TYPE DISPROPORTION CAP MYOPATHY - TPM3-RELATED - INCLUDED TPM3 - ARG168CYS 159 159 GLY ASP CARDIOMYOPATHY - DILATED - 1Z TNNC1 - GLY159ASP 29 29 LEU GLN CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 13 TNNC1 - LEU29GLN 8 8 ALA VAL CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 13 TNNC1 - ALA8VAL 84 84 CYS TYR CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 13 TNNC1 - CYS84TYR 145 145 ASP GLU CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 13 TNNC1 - ASP145GLU 174 174 ARG GLN ARTHROGRYPOSIS - DISTAL - TYPE 2B TNNI2 - ARG174GLN 145 145 ARG GLY CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 7 TNNI3 - ARG145GLY 206 206 LYS GLN CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 7 TNNI3 - LYS206GLN 82 82 PRO SER CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 7 TNNI3 - PRO82SER 196 196 ASP ASN CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 7 TNNI3 - ASP196ASN 190 190 ASP GLY CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 7 CARDIOMYOPATHY - FAMILIAL RESTRICTIVE - 1 - INCLUDED TNNI3 - ASP190GLY 192 192 ARG HIS CARDIOMYOPATHY - FAMILIAL RESTRICTIVE - 1 TNNI3 - ARG192HIS 178 178 LYS GLU CARDIOMYOPATHY - FAMILIAL RESTRICTIVE - 1 TNNI3 - LYS178GLU 145 145 ARG TRP CARDIOMYOPATHY - FAMILIAL RESTRICTIVE - 1 TNNI3 - ARG145TRP 144 144 LEU GLN CARDIOMYOPATHY - FAMILIAL RESTRICTIVE - 1 TNNI3 - LEU144GLN 171 171 ALA THR CARDIOMYOPATHY - FAMILIAL RESTRICTIVE - 1 TNNI3 - ALA171THR 36 36 LYS GLN CARDIOMYOPATHY - DILATED - 1FF TNNI3 - LYS36GLN 185 185 ASN LYS CARDIOMYOPATHY - DILATED - 1FF TNNI3 - ASN185LYS 203 203 GLY SER CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 7 TNNI3 - GLY203SER 21 21 ARG CYS CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 7 TNNI3 - ARG21CYS 79 89 ILE ASN CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 2 CARDIOMYOPATHY - DILATED - 1D - INCLUDED;; CARDIOMYOPATHY - FAMILIAL - RESTRICTIVE - 3 - INCLUDED TNNT2 - ILE79ASN 92 102 ARG GLN CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 2 TNNT2 - ARG92GLN 278 288 ARG CYS CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 2 TNNT2 - ARG278CYS 110 120 PHE ILE CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 2 TNNT2 - PHE110ILE 141 151 ARG TRP CARDIOMYOPATHY - DILATED - 1D TNNT2 - ARG141TRP 131 141 ARG TRP CARDIOMYOPATHY - DILATED - 1D LEFT VENTRICULAR NONCOMPACTION 6 - INCLUDED TNNT2 - ARG131TRP 205 215 ARG LEU CARDIOMYOPATHY - DILATED - 1D TNNT2 - ARG205LEU 270 280 ASP ASN CARDIOMYOPATHY - DILATED - 1D TNNT2 - ASP270ASN 611 611 ARG GLN TUBEROUS SCLEROSIS 2 LYMPHANGIOLEIOMYOMATOSIS - SOMATIC - INCLUDED TSC2 - ARG611GLN 717 717 LEU ARG TUBEROUS SCLEROSIS 2 TSC2 - LEU717ARG 1675 1675 PRO LEU TUBEROUS SCLEROSIS 2 TSC2 - PRO1675LEU 1503 1503 GLN PRO TUBEROUS SCLEROSIS 2 TSC2 - GLN1503PRO 905 905 ARG GLN TUBEROUS SCLEROSIS 2 TSC2 - ARG905GLN 905 905 ARG TRP TUBEROUS SCLEROSIS 2 TSC2 - ARG905TRP 905 905 ARG GLY TUBEROUS SCLEROSIS 2 TSC2 - ARG905GLY 29 105 LEU SER TNF RECEPTOR BINDING - ALTERED TNF - LEU29SER 32 108 ARG TRP TNF RECEPTOR BINDING - ALTERED TNF - ARG32TRP 248 248 ARG TRP LI-FRAUMENI SYNDROME 1 TP53 - ARG248TRP 258 258 GLU LYS LI-FRAUMENI SYNDROME 1 TP53 - GLU258LYS 245 245 GLY CYS LI-FRAUMENI SYNDROME 1 TP53 - GLY245CYS 252 252 LEU PRO LI-FRAUMENI SYNDROME 1 TP53 - LEU252PRO 72 72 PRO ARG CODON 72 POLYMORPHISM - (dbSNP rs1042522) TP53 - PRO72ARG 249 249 ARG SER HEPATOCELLULAR CARCINOMA - SOMATIC CERVICAL CANCER - SOMATIC - INCLUDED TP53 - ARG249SER 157 157 VAL PHE HEPATOCELLULAR CARCINOMA - SOMATIC TP53 - VAL157PHE 242 242 CYS TYR EPENDYMOMA - INTRACRANIAL TP53 - CYS242TYR 245 245 GLY ASP LI-FRAUMENI SYNDROME 1 TP53 - GLY245ASP 248 248 ARG GLN LI-FRAUMENI SYNDROME 1 TP53 - ARG248GLN 133 133 MET THR LI-FRAUMENI SYNDROME 1 TP53 - MET133THR 272 272 VAL LEU LI-FRAUMENI SYNDROME 1 TP53 - VAL272LEU 241 241 SER PHE HEPATOBLASTOMA OSTEOSARCOMA - INCLUDED TP53 - SER241PHE 282 282 ARG TRP OSTEOSARCOMA TP53 - ARG282TRP 245 245 GLY SER OSTEOSARCOMA TP53 - GLY245SER 273 273 ARG HIS LI-FRAUMENI SYNDROME 1 THYROID CARCINOMA - ANAPLASTIC - SOMATIC - INCLUDED TP53 - ARG273HIS 325 325 GLY VAL NON-HODGKIN LYMPHOMA COLON CANCER - INCLUDED TP53 - GLY325VAL 280 280 ARG THR NASOPHARYNGEAL CARCINOMA - SOMATIC TP53 - ARG280THR 151 151 PRO THR BREAST CANCER - SOMATIC TP53 - PRO151THR 151 151 PRO SER BREAST CANCER - SOMATIC TP53 - PRO151SER 35 35 LEU PHE PANCREATIC CANCER - SOMATIC TP53 - LEU35PHE 257 257 LEU GLN OSTEOSARCOMA TP53 - LEU257GLN 175 175 ARG HIS LI-FRAUMENI SYNDROME 1 TP53 - ARG175HIS 344 344 LEU PRO LI-FRAUMENI SYNDROME 1 TP53 - LEU344PRO 138 138 ALA PRO LI-FRAUMENI SYNDROME 1 TP53 - ALA138PRO 292 292 LYS ILE LI-FRAUMENI SYNDROME 1 TP53 - LYS292ILE 337 337 ARG HIS ADRENOCORTICAL CARCINOMA - PEDIATRIC TP53 - ARG337HIS 189 189 ALA VAL COLORECTAL CANCER TP53 - ALA189VAL 220 220 TYR SER LI-FRAUMENI SYNDROME 1 TP53 - TYR220SER 285 285 GLU VAL ADRENOCORTICAL CARCINOMA - PEDIATRIC CHOROID PLEXUS CARCINOMA - INCLUDED TP53 - GLU285VAL 33 62 CYS TYR PERIODIC FEVER - FAMILIAL - AUTOSOMAL DOMINANT TNFRSF1A - CYS33TYR 50 79 THR MET PERIODIC FEVER - FAMILIAL - AUTOSOMAL DOMINANT TNFRSF1A - THR50MET 30 59 CYS ARG PERIODIC FEVER - FAMILIAL - AUTOSOMAL DOMINANT TNFRSF1A - CYS30ARG 52 81 CYS PHE PERIODIC FEVER - FAMILIAL - AUTOSOMAL DOMINANT TNFRSF1A - CYS52PHE 88 117 CYS ARG PERIODIC FEVER - FAMILIAL - AUTOSOMAL DOMINANT TNFRSF1A - CYS88ARG 88 117 CYS TYR PERIODIC FEVER - FAMILIAL - AUTOSOMAL DOMINANT TNFRSF1A - CYS88TYR 92 121 ARG PRO PERIODIC FEVER - FAMILIAL - AUTOSOMAL DOMINANT TNFRSF1A - ARG92PRO 30 59 CYS SER PERIODIC FEVER - FAMILIAL - AUTOSOMAL DOMINANT TNFRSF1A - CYS30SER 33 62 CYS GLY PERIODIC FEVER - FAMILIAL - AUTOSOMAL DOMINANT TNFRSF1A - CYS33GLY 70 99 CYS SER PERIODIC FEVER - FAMILIAL - AUTOSOMAL DOMINANT TNFRSF1A - CYS70SER 55 84 CYS ALA PERIODIC FEVER - FAMILIAL - AUTOSOMAL DOMINANT TNFRSF1A - CYS55ALA 412 412 GLN LYS SEGAWA SYNDROME - AUTOSOMAL RECESSIVE TH - GLN412LYS 236 236 LEU PRO SEGAWA SYNDROME - AUTOSOMAL RECESSIVE TH - LEU236PRO 233 233 ARG HIS SEGAWA SYNDROME - AUTOSOMAL RECESSIVE TH - ARG233HIS 337 337 ARG HIS SEGAWA SYNDROME - AUTOSOMAL RECESSIVE TH - ARG337HIS 494 494 THR MET SEGAWA SYNDROME - AUTOSOMAL RECESSIVE TH - THR494MET 276 276 THR PRO SEGAWA SYNDROME - AUTOSOMAL RECESSIVE TH - THR276PRO 314 314 THR MET SEGAWA SYNDROME - AUTOSOMAL RECESSIVE TH - THR314MET 359 359 CYS PHE SEGAWA SYNDROME - AUTOSOMAL RECESSIVE TH - CYS359PHE 71 71 ALA THR MATURITY-ONSET DIABETES OF THE YOUNG - TYPE 11 BLK - ALA71THR 1147 1147 PRO SER HEMANGIOMA - CAPILLARY INFANTILE - SOMATIC KDR - PRO1147SER 482 482 CYS ARG HEMANGIOMA - CAPILLARY INFANTILE - SUSCEPTIBILITY TO KDR - CYS482ARG 752 752 ARG CYS SPONDYLOMETAEPIPHYSEAL DYSPLASIA - SHORT LIMB-HAND TYPE DDR2 - ARG752CYS 726 726 ILE ARG SPONDYLOMETAEPIPHYSEAL DYSPLASIA - SHORT LIMB-HAND TYPE DDR2 - ILE726ARG 713 713 THR ILE SPONDYLOMETAEPIPHYSEAL DYSPLASIA - SHORT LIMB-HAND TYPE DDR2 - THR713ILE 571 577 GLY ARG INSENSITIVITY TO PAIN - CONGENITAL - WITH ANHIDROSIS NTRK1 - GLY571ARG 774 780 ARG PRO INSENSITIVITY TO PAIN - CONGENITAL - WITH ANHIDROSIS NTRK1 - ARG774PRO 607 613 GLY VAL INSENSITIVITY TO PAIN - CONGENITAL - WITH ANHIDROSIS NTRK1 - GLN9TER - HIS598TYR - AND GLY607VAL 598 604 HIS TYR INSENSITIVITY TO PAIN - CONGENITAL - WITH ANHIDROSIS NTRK1 - GLN9TER - HIS598TYR - AND GLY607VAL 85 85 ARG SER INSENSITIVITY TO PAIN - CONGENITAL - WITH ANHIDROSIS NTRK1 - IVS4 - G-C - -1 AND ARG85SER 604 604 TYR HIS THYROID CARCINOMA - FAMILIAL MEDULLARY NTRK1 - TYR604HIS 613 613 VAL GLY THYROID CARCINOMA - FAMILIAL MEDULLARY NTRK1 - VAL613GLY 689 695 PRO LEU INSENSITIVITY TO PAIN - CONGENITAL - WITH ANHIDROSIS NTRK1 - PRO689LEU 359 359 TYR CYS INSENSITIVITY TO PAIN - CONGENITAL - WITH ANHIDROSIS NTRK1 - TYR359CYS 581 587 MET VAL INSENSITIVITY TO PAIN - CONGENITAL - WITH ANHIDROSIS NTRK1 - MET581VAL 93 93 ILE MET PARKINSON DISEASE 5 - AUTOSOMAL DOMINANT UCHL1 - ILE93MET 18 18 SER TYR PARKINSON DISEASE 5 - RESISTANCE TO UCHL1 - SER18TYR 170 170 TYR CYS CONGENITAL DISORDER OF GLYCOSYLATION - TYPE Ij DPAGT1 - TYR170CYS 251 251 PHE SER IMMUNODEFICIENCY WITH HYPER-IgM - TYPE 5 UNG - PHE251SER 376 376 SER PHE CRIGLER-NAJJAR SYNDROME - TYPE I UGT1A1 - SER376PHE 331 332 GLN ARG CRIGLER-NAJJAR SYNDROME - TYPE II UGT1A1 - GLN331ARG 309 309 GLY GLU CRIGLER-NAJJAR SYNDROME - TYPE I UGT1A1 - GLY309GLU 229 230 PRO GLN GILBERT SYNDROME CRIGLER-NAJJAR SYNDROME - TYPE II - INCLUDED UGT1A1 - PRO229GLN 71 71 GLY ARG GILBERT SYNDROME HYPERBILIRUBINEMIA - TRANSIENT FAMILIAL NEONATAL - INCLUDED;; BILIRUBIN - SERUM LEVEL OF - QUANTITATIVE TRAIT LOCUS 1 - INCLUDED UGT1A1 - GLY71ARG (dbSNP rs4148323) 486 487 TYR ASP HYPERBILIRUBINEMIA - TRANSIENT FAMILIAL NEONATAL CRIGLER-NAJJAR SYNDROME - TYPE II - INCLUDED UGT1A1 - TYR486ASP 357 358 GLN ARG CRIGLER-NAJJAR SYNDROME - TYPE I UGT1A1 - GLN357ARG 175 175 LEU GLN CRIGLER-NAJJAR SYNDROME - TYPE II UGT1A1 - LEU175GLN 400 401 ASN ASP CRIGLER-NAJJAR SYNDROME - TYPE II GILBERT SYNDROME - INCLUDED UGT1A1 - ASN400ASP 15 16 LEU ARG CRIGLER-NAJJAR SYNDROME - TYPE II UGT1A1 - LEU15ARG 376 376 SER PHE CRIGLER-NAJJAR SYNDROME - TYPE I UGT1A1 - SER376PHE 331 332 GLN ARG CRIGLER-NAJJAR SYNDROME - TYPE II UGT1A1 - GLN331ARG 309 309 GLY GLU CRIGLER-NAJJAR SYNDROME - TYPE I UGT1A1 - GLY309GLU 229 230 PRO GLN GILBERT SYNDROME CRIGLER-NAJJAR SYNDROME - TYPE II - INCLUDED UGT1A1 - PRO229GLN 71 71 GLY ARG GILBERT SYNDROME HYPERBILIRUBINEMIA - TRANSIENT FAMILIAL NEONATAL - INCLUDED;; BILIRUBIN - SERUM LEVEL OF - QUANTITATIVE TRAIT LOCUS 1 - INCLUDED UGT1A1 - GLY71ARG (dbSNP rs4148323) 486 487 TYR ASP HYPERBILIRUBINEMIA - TRANSIENT FAMILIAL NEONATAL CRIGLER-NAJJAR SYNDROME - TYPE II - INCLUDED UGT1A1 - TYR486ASP 357 358 GLN ARG CRIGLER-NAJJAR SYNDROME - TYPE I UGT1A1 - GLN357ARG 175 175 LEU GLN CRIGLER-NAJJAR SYNDROME - TYPE II UGT1A1 - LEU175GLN 400 401 ASN ASP CRIGLER-NAJJAR SYNDROME - TYPE II GILBERT SYNDROME - INCLUDED UGT1A1 - ASN400ASP 15 16 LEU ARG CRIGLER-NAJJAR SYNDROME - TYPE II UGT1A1 - LEU15ARG 376 376 SER PHE CRIGLER-NAJJAR SYNDROME - TYPE I UGT1A1 - SER376PHE 331 332 GLN ARG CRIGLER-NAJJAR SYNDROME - TYPE II UGT1A1 - GLN331ARG 309 309 GLY GLU CRIGLER-NAJJAR SYNDROME - TYPE I UGT1A1 - GLY309GLU 229 230 PRO GLN GILBERT SYNDROME CRIGLER-NAJJAR SYNDROME - TYPE II - INCLUDED UGT1A1 - PRO229GLN 71 71 GLY ARG GILBERT SYNDROME HYPERBILIRUBINEMIA - TRANSIENT FAMILIAL NEONATAL - INCLUDED;; BILIRUBIN - SERUM LEVEL OF - QUANTITATIVE TRAIT LOCUS 1 - INCLUDED UGT1A1 - GLY71ARG (dbSNP rs4148323) 486 487 TYR ASP HYPERBILIRUBINEMIA - TRANSIENT FAMILIAL NEONATAL CRIGLER-NAJJAR SYNDROME - TYPE II - INCLUDED UGT1A1 - TYR486ASP 357 358 GLN ARG CRIGLER-NAJJAR SYNDROME - TYPE I UGT1A1 - GLN357ARG 175 175 LEU GLN CRIGLER-NAJJAR SYNDROME - TYPE II UGT1A1 - LEU175GLN 400 401 ASN ASP CRIGLER-NAJJAR SYNDROME - TYPE II GILBERT SYNDROME - INCLUDED UGT1A1 - ASN400ASP 15 16 LEU ARG CRIGLER-NAJJAR SYNDROME - TYPE II UGT1A1 - LEU15ARG 376 376 SER PHE CRIGLER-NAJJAR SYNDROME - TYPE I UGT1A1 - SER376PHE 331 332 GLN ARG CRIGLER-NAJJAR SYNDROME - TYPE II UGT1A1 - GLN331ARG 309 309 GLY GLU CRIGLER-NAJJAR SYNDROME - TYPE I UGT1A1 - GLY309GLU 229 230 PRO GLN GILBERT SYNDROME CRIGLER-NAJJAR SYNDROME - TYPE II - INCLUDED UGT1A1 - PRO229GLN 71 71 GLY ARG GILBERT SYNDROME HYPERBILIRUBINEMIA - TRANSIENT FAMILIAL NEONATAL - INCLUDED;; BILIRUBIN - SERUM LEVEL OF - QUANTITATIVE TRAIT LOCUS 1 - INCLUDED UGT1A1 - GLY71ARG (dbSNP rs4148323) 486 487 TYR ASP HYPERBILIRUBINEMIA - TRANSIENT FAMILIAL NEONATAL CRIGLER-NAJJAR SYNDROME - TYPE II - INCLUDED UGT1A1 - TYR486ASP 357 358 GLN ARG CRIGLER-NAJJAR SYNDROME - TYPE I UGT1A1 - GLN357ARG 175 175 LEU GLN CRIGLER-NAJJAR SYNDROME - TYPE II UGT1A1 - LEU175GLN 400 401 ASN ASP CRIGLER-NAJJAR SYNDROME - TYPE II GILBERT SYNDROME - INCLUDED UGT1A1 - ASN400ASP 15 16 LEU ARG CRIGLER-NAJJAR SYNDROME - TYPE II UGT1A1 - LEU15ARG 376 376 SER PHE CRIGLER-NAJJAR SYNDROME - TYPE I UGT1A1 - SER376PHE 331 332 GLN ARG CRIGLER-NAJJAR SYNDROME - TYPE II UGT1A1 - GLN331ARG 309 309 GLY GLU CRIGLER-NAJJAR SYNDROME - TYPE I UGT1A1 - GLY309GLU 229 230 PRO GLN GILBERT SYNDROME CRIGLER-NAJJAR SYNDROME - TYPE II - INCLUDED UGT1A1 - PRO229GLN 71 71 GLY ARG GILBERT SYNDROME HYPERBILIRUBINEMIA - TRANSIENT FAMILIAL NEONATAL - INCLUDED;; BILIRUBIN - SERUM LEVEL OF - QUANTITATIVE TRAIT LOCUS 1 - INCLUDED UGT1A1 - GLY71ARG (dbSNP rs4148323) 486 487 TYR ASP HYPERBILIRUBINEMIA - TRANSIENT FAMILIAL NEONATAL CRIGLER-NAJJAR SYNDROME - TYPE II - INCLUDED UGT1A1 - TYR486ASP 357 358 GLN ARG CRIGLER-NAJJAR SYNDROME - TYPE I UGT1A1 - GLN357ARG 175 175 LEU GLN CRIGLER-NAJJAR SYNDROME - TYPE II UGT1A1 - LEU175GLN 400 401 ASN ASP CRIGLER-NAJJAR SYNDROME - TYPE II GILBERT SYNDROME - INCLUDED UGT1A1 - ASN400ASP 15 16 LEU ARG CRIGLER-NAJJAR SYNDROME - TYPE II UGT1A1 - LEU15ARG 376 376 SER PHE CRIGLER-NAJJAR SYNDROME - TYPE I UGT1A1 - SER376PHE 331 332 GLN ARG CRIGLER-NAJJAR SYNDROME - TYPE II UGT1A1 - GLN331ARG 309 309 GLY GLU CRIGLER-NAJJAR SYNDROME - TYPE I UGT1A1 - GLY309GLU 229 230 PRO GLN GILBERT SYNDROME CRIGLER-NAJJAR SYNDROME - TYPE II - INCLUDED UGT1A1 - PRO229GLN 71 71 GLY ARG GILBERT SYNDROME HYPERBILIRUBINEMIA - TRANSIENT FAMILIAL NEONATAL - INCLUDED;; BILIRUBIN - SERUM LEVEL OF - QUANTITATIVE TRAIT LOCUS 1 - INCLUDED UGT1A1 - GLY71ARG (dbSNP rs4148323) 486 487 TYR ASP HYPERBILIRUBINEMIA - TRANSIENT FAMILIAL NEONATAL CRIGLER-NAJJAR SYNDROME - TYPE II - INCLUDED UGT1A1 - TYR486ASP 357 358 GLN ARG CRIGLER-NAJJAR SYNDROME - TYPE I UGT1A1 - GLN357ARG 175 175 LEU GLN CRIGLER-NAJJAR SYNDROME - TYPE II UGT1A1 - LEU175GLN 400 401 ASN ASP CRIGLER-NAJJAR SYNDROME - TYPE II GILBERT SYNDROME - INCLUDED UGT1A1 - ASN400ASP 15 16 LEU ARG CRIGLER-NAJJAR SYNDROME - TYPE II UGT1A1 - LEU15ARG 376 376 SER PHE CRIGLER-NAJJAR SYNDROME - TYPE I UGT1A1 - SER376PHE 331 332 GLN ARG CRIGLER-NAJJAR SYNDROME - TYPE II UGT1A1 - GLN331ARG 309 309 GLY GLU CRIGLER-NAJJAR SYNDROME - TYPE I UGT1A1 - GLY309GLU 229 230 PRO GLN GILBERT SYNDROME CRIGLER-NAJJAR SYNDROME - TYPE II - INCLUDED UGT1A1 - PRO229GLN 71 71 GLY ARG GILBERT SYNDROME HYPERBILIRUBINEMIA - TRANSIENT FAMILIAL NEONATAL - INCLUDED;; BILIRUBIN - SERUM LEVEL OF - QUANTITATIVE TRAIT LOCUS 1 - INCLUDED UGT1A1 - GLY71ARG (dbSNP rs4148323) 486 487 TYR ASP HYPERBILIRUBINEMIA - TRANSIENT FAMILIAL NEONATAL CRIGLER-NAJJAR SYNDROME - TYPE II - INCLUDED UGT1A1 - TYR486ASP 357 358 GLN ARG CRIGLER-NAJJAR SYNDROME - TYPE I UGT1A1 - GLN357ARG 175 175 LEU GLN CRIGLER-NAJJAR SYNDROME - TYPE II UGT1A1 - LEU175GLN 400 401 ASN ASP CRIGLER-NAJJAR SYNDROME - TYPE II GILBERT SYNDROME - INCLUDED UGT1A1 - ASN400ASP 15 16 LEU ARG CRIGLER-NAJJAR SYNDROME - TYPE II UGT1A1 - LEU15ARG 376 376 SER PHE CRIGLER-NAJJAR SYNDROME - TYPE I UGT1A1 - SER376PHE 331 332 GLN ARG CRIGLER-NAJJAR SYNDROME - TYPE II UGT1A1 - GLN331ARG 309 309 GLY GLU CRIGLER-NAJJAR SYNDROME - TYPE I UGT1A1 - GLY309GLU 229 230 PRO GLN GILBERT SYNDROME CRIGLER-NAJJAR SYNDROME - TYPE II - INCLUDED UGT1A1 - PRO229GLN 71 71 GLY ARG GILBERT SYNDROME HYPERBILIRUBINEMIA - TRANSIENT FAMILIAL NEONATAL - INCLUDED;; BILIRUBIN - SERUM LEVEL OF - QUANTITATIVE TRAIT LOCUS 1 - INCLUDED UGT1A1 - GLY71ARG (dbSNP rs4148323) 486 487 TYR ASP HYPERBILIRUBINEMIA - TRANSIENT FAMILIAL NEONATAL CRIGLER-NAJJAR SYNDROME - TYPE II - INCLUDED UGT1A1 - TYR486ASP 357 358 GLN ARG CRIGLER-NAJJAR SYNDROME - TYPE I UGT1A1 - GLN357ARG 175 175 LEU GLN CRIGLER-NAJJAR SYNDROME - TYPE II UGT1A1 - LEU175GLN 400 401 ASN ASP CRIGLER-NAJJAR SYNDROME - TYPE II GILBERT SYNDROME - INCLUDED UGT1A1 - ASN400ASP 15 16 LEU ARG CRIGLER-NAJJAR SYNDROME - TYPE II UGT1A1 - LEU15ARG 376 376 SER PHE CRIGLER-NAJJAR SYNDROME - TYPE I UGT1A1 - SER376PHE 331 332 GLN ARG CRIGLER-NAJJAR SYNDROME - TYPE II UGT1A1 - GLN331ARG 309 309 GLY GLU CRIGLER-NAJJAR SYNDROME - TYPE I UGT1A1 - GLY309GLU 229 230 PRO GLN GILBERT SYNDROME CRIGLER-NAJJAR SYNDROME - TYPE II - INCLUDED UGT1A1 - PRO229GLN 71 71 GLY ARG GILBERT SYNDROME HYPERBILIRUBINEMIA - TRANSIENT FAMILIAL NEONATAL - INCLUDED;; BILIRUBIN - SERUM LEVEL OF - QUANTITATIVE TRAIT LOCUS 1 - INCLUDED UGT1A1 - GLY71ARG (dbSNP rs4148323) 486 487 TYR ASP HYPERBILIRUBINEMIA - TRANSIENT FAMILIAL NEONATAL CRIGLER-NAJJAR SYNDROME - TYPE II - INCLUDED UGT1A1 - TYR486ASP 357 358 GLN ARG CRIGLER-NAJJAR SYNDROME - TYPE I UGT1A1 - GLN357ARG 175 175 LEU GLN CRIGLER-NAJJAR SYNDROME - TYPE II UGT1A1 - LEU175GLN 400 401 ASN ASP CRIGLER-NAJJAR SYNDROME - TYPE II GILBERT SYNDROME - INCLUDED UGT1A1 - ASN400ASP 15 16 LEU ARG CRIGLER-NAJJAR SYNDROME - TYPE II UGT1A1 - LEU15ARG 141 141 PRO LEU ALZHEIMER DISEASE - LATE-ONSET - SUSCEPTIBILITY TO PLAU - PRO141LEU 148 148 CYS TYR HYPERURICEMIC NEPHROPATHY - FAMILIAL JUVENILE - 1 UMOD - CYS148TYR 217 217 CYS ARG HYPERURICEMIC NEPHROPATHY - FAMILIAL JUVENILE - 1 UMOD - CYS217ARG 103 103 GLY CYS MEDULLARY CYSTIC KIDNEY DISEASE 2 UMOD - GLY103CYS 77 77 CYS TYR HYPERURICEMIC NEPHROPATHY - FAMILIAL JUVENILE - 1 UMOD - CYS77TYR 126 126 CYS ARG HYPERURICEMIC NEPHROPATHY - FAMILIAL JUVENILE - 1 UMOD - CYS126ARG 128 128 ASN SER HYPERURICEMIC NEPHROPATHY - FAMILIAL JUVENILE - 1 UMOD - ASN128SER 255 255 CYS TYR HYPERURICEMIC NEPHROPATHY - FAMILIAL JUVENILE - 1 UMOD - CYS255TYR 300 300 CYS GLY HYPERURICEMIC NEPHROPATHY - FAMILIAL JUVENILE - 1 UMOD - CYS300GLY 315 315 CYS ARG GLOMERULOCYSTIC KIDNEY DISEASE WITH HYPERURICEMIA AND ISOSTHENURIA UMOD - CYS315ARG 273 273 VAL PHE HYPERURICEMIC NEPHROPATHY - FAMILIAL JUVENILE - 1 UMOD - VAL273PHE 711 711 LEU VAL ENDOMETRIAL CARCINOMA - SOMATIC CDH1 - LEU711VAL 617 617 ALA THR ENDOMETRIAL CARCINOMA - SOMATIC GASTRIC CANCER - HEREDITARY DIFFUSE - INCLUDED CDH1 - ALA617THR 838 838 SER GLY OVARIAN CANCER - SOMATIC CDH1 - SER838GLY 634 634 ALA VAL GASTRIC CANCER - HEREDITARY DIFFUSE CDH1 - ALA634VAL 340 340 THR ALA GASTRIC CANCER - HEREDITARY DIFFUSE CDH1 - THR340ALA 832 832 VAL MET GASTRIC CANCER - HEREDITARY DIFFUSE CDH1 - VAL832MET 81 81 LEU PRO RENAL TUBULAR ACIDOSIS - DISTAL - WITH PROGRESSIVE DEAFNESS ATP6V1B1 - LEU81PRO 78 78 GLY ARG RENAL TUBULAR ACIDOSIS - DISTAL - WITH PROGRESSIVE DEAFNESS ATP6V1B1 - GLY78ARG 57 88 GLY SER DIABETES INSIPIDUS - NEUROHYPOPHYSEAL AVP - GLY57SER 17 48 GLY VAL DIABETES INSIPIDUS - NEUROHYPOPHYSEAL AVP - GLY17VAL 62 93 GLY TRP DIABETES INSIPIDUS - NEUROHYPOPHYSEAL AVP - GLY62TRP 65 96 GLY VAL DIABETES INSIPIDUS - NEUROHYPOPHYSEAL AVP - GLY65VAL 23 54 GLY VAL DIABETES INSIPIDUS - NEUROHYPOPHYSEAL AVP - GLY23VAL 23 54 GLY ARG DIABETES INSIPIDUS - NEUROHYPOPHYSEAL AVP - GLY23ARG 56 87 SER PHE DIABETES INSIPIDUS - NEUROHYPOPHYSEAL AVP - SER56PHE 61 92 CYS TYR DIABETES INSIPIDUS - NEUROHYPOPHYSEAL AVP - CYS61TYR 7 7 PRO LEU DIABETES INSIPIDUS - NEUROHYPOPHYSEAL - AUTOSOMAL RECESSIVE AVP - PRO7LEU 116 116 CYS GLY DIABETES INSIPIDUS - NEUROHYPOPHYSEAL AVP - CYS116GLY 2 2 TYR HIS DIABETES INSIPIDUS - NEUROHYPOPHYSEAL AVP - TYR2HIS 67 67 VAL ALA DIABETES INSIPIDUS - NEUROHYPOPHYSEAL AVP - VAL67ALA 151 151 GLU LYS CATARACT - PULVERULENT - AUTOSOMAL DOMINANT VIM - GLU151LYS 975 975 ARG TRP CARDIOMYOPATHY - DILATED - 1W CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 15 VCL - ARG975TRP 277 277 LEU MET CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 15 VCL - LEU277MET 248 248 VAL ASN 3-@BETA-HYDROXYSTEROID DEHYDROGENASE - TYPE II - DEFICIENCY OF HSD3B2 - VAL248ASN 10 10 ALA GLU 3-@BETA-HYDROXYSTEROID DEHYDROGENASE - TYPE II - DEFICIENCY OF HSD3B2 - ALA10GLU 142 142 GLU LYS 3-@BETA-HYDROXYSTEROID DEHYDROGENASE - TYPE II - DEFICIENCY OF HSD3B2 - GLU142LYS 222 222 PRO THR 3-@BETA-HYDROXYSTEROID DEHYDROGENASE - TYPE II - DEFICIENCY OF HSD3B2 - PRO222THR 259 259 THR MET 3-@BETA-HYDROXYSTEROID DEHYDROGENASE - TYPE II - DEFICIENCY OF HSD3B2 - THR259MET 341 341 PRO LEU 3-@BETA-HYDROXYSTEROID DEHYDROGENASE - TYPE II - DEFICIENCY OF HSD3B2 - PRO341LEU 172 172 ILE ASN ADRENAL HYPERPLASIA - CONGENITAL - DUE TO 21-HYDROXYLASE DEFICIENCY - CLASSIC TYPE CYP21A2 - ILE172ASN 281 281 VAL LEU ADRENAL HYPERPLASIA - CONGENITAL - DUE TO 21-HYDROXYLASE DEFICIENCY - NONCLASSIC TYPE ADENOMA - CORTISOL-PRODUCING - INCLUDED;; CARCINOMA - ADRENOCORTICAL - ANDROGEN-SECRETING - INCLUDED CYP21A2 - VAL281LEU 356 356 ARG TRP ADRENAL HYPERPLASIA - CONGENITAL - DUE TO 21-HYDROXYLASE DEFICIENCY - CLASSIC TYPE CYP21A2 - ARG356TRP 30 30 PRO LEU ADRENAL HYPERPLASIA - CONGENITAL - DUE TO 21-HYDROXYLASE DEFICIENCY - NONCLASSIC TYPE CYP21A2 - PRO30LEU 268 268 SER THR 21-@HYDROXYLASE POLYMORPHISM CYP21A2 - SER268THR 292 292 GLY SER ADRENAL HYPERPLASIA - CONGENITAL - DUE TO 21-HYDROXYLASE DEFICIENCY - SALT-WASTING TYPE CYP21A2 - GLY292SER 105 105 PRO LEU ADRENAL HYPERPLASIA - CONGENITAL - DUE TO 21-HYDROXYLASE DEFICIENCY - LATE-ONSET FORM CYP21A2 - -4C-T - PRO105LEU - AND PRO453SER 453 453 PRO SER ADRENAL HYPERPLASIA - CONGENITAL - DUE TO 21-HYDROXYLASE DEFICIENCY - LATE-ONSET FORM CYP21A2 - -4C-T - PRO105LEU - AND PRO453SER 453 453 PRO SER ADRENAL HYPERPLASIA - CONGENITAL - DUE TO 21-HYDROXYLASE DEFICIENCY - NONCLASSIC TYPE CYP21A2 - PRO453SER 102 102 TYR ARG 21-@HYDROXYLASE POLYMORPHISM CYP21A2 - TYR102ARG 235 235 ILE ASN ADRENAL HYPERPLASIA - CONGENITAL - DUE TO 21-HYDROXYLASE DEFICIENCY - SALT-WASTING TYPE CYP21A2 - ILE235ASN 236 236 VAL GLU ADRENAL HYPERPLASIA - CONGENITAL - DUE TO 21-HYDROXYLASE DEFICIENCY - SALT-WASTING TYPE CYP21A2 - VAL236GLU 238 238 MET LYS ADRENAL HYPERPLASIA - CONGENITAL - DUE TO 21-HYDROXYLASE DEFICIENCY - SALT-WASTING TYPE CYP21A2 - MET238LYS 339 339 ARG HIS ADRENAL HYPERPLASIA - CONGENITAL - DUE TO 21-HYDROXYLASE DEFICIENCY - NONCLASSIC TYPE CYP21A2 - ARG339HIS 380 380 GLU ASP ADRENAL HYPERPLASIA - CONGENITAL - DUE TO 21-HYDROXYLASE DEFICIENCY - SALT-WASTING TYPE CYP21A2 - GLU380ASP 236 236 ILE ASN ADRENAL HYPERPLASIA - CONGENITAL - DUE TO 21-HYDROXYLASE DEFICIENCY - SALT-WASTING TYPE CYP21A2 - ILE236ASN - VAL237GLU 237 237 VAL GLU ADRENAL HYPERPLASIA - CONGENITAL - DUE TO 21-HYDROXYLASE DEFICIENCY - SALT-WASTING TYPE CYP21A2 - ILE236ASN - VAL237GLU 424 424 GLY SER ADRENAL HYPERPLASIA - CONGENITAL - DUE TO 21-HYDROXYLASE DEFICIENCY CYP21A2 - GLY424SER 426 426 ARG HIS ADRENAL HYPERPLASIA - CONGENITAL - DUE TO 21-HYDROXYLASE DEFICIENCY - CLASSIC TYPE CYP21A2 - ARG426HIS 408 408 ARG CYS ADRENAL HYPERPLASIA - CONGENITAL - DUE TO 21-HYDROXYLASE DEFICIENCY - CLASSIC TYPE CYP21A2 - ARG408CYS 304 304 VAL MET HYPERANDROGENISM - NONCLASSIC TYPE - DUE TO 21-HYDROXYLASE DEFICIENCY CYP21A2 - VAL304MET 375 375 GLY SER HYPERANDROGENISM - NONCLASSIC TYPE - DUE TO 21-HYDROXYLASE DEFICIENCY CYP21A2 - GLY375SER 356 356 ARG TRP ADRENAL HYPERPLASIA - CONGENITAL - DUE TO 21-HYDROXYLASE DEFICIENCY CYP21A2 - VAL281LEU - PHE306+1 - GLN318TER - AND ARG356TRP 281 281 VAL LEU ADRENAL HYPERPLASIA - CONGENITAL - DUE TO 21-HYDROXYLASE DEFICIENCY CYP21A2 - VAL281LEU - PHE306+1 - GLN318TER - AND ARG356TRP 62 62 HIS LEU ADRENAL HYPERPLASIA - CONGENITAL - DUE TO 21-HYDROXYLASE DEFICIENCY CYP21A2 - HIS62LEU 121 121 LYS GLN ADRENAL HYPERPLASIA - CONGENITAL - DUE TO 21-HYDROXYLASE DEFICIENCY CYP21A2 - LYS121GLN 390 390 MET ARG BARDET-BIEDL SYNDROME 1 BBS1 - MET390ARG 518 518 LEU PRO BARDET-BIEDL SYNDROME 1 BBS1 - LEU518PRO 234 234 GLU LYS BARDET-BIEDL SYNDROME 7 BBS1 - GLU234LYS 164 164 LEU HIS PARA-BOMBAY PHENOTYPE FUT1 - LEU164HIS 242 242 LEU ARG BOMBAY PHENOTYPE FUT1 - LEU242ARG 189 189 SER PHE C2 DEFICIENCY - TYPE II C2 - SER189PHE 444 444 GLY ARG C2 DEFICIENCY - TYPE II C2 - GLY444ARG 318 318 GLU ASP MACULAR DEGENERATION - AGE-RELATED - REDUCED RISK OF C2 - GLU318ASP 400 400 HIS LEU COMPLEMENT FACTOR I DEFICIENCY CFI - HIS400LEU 506 506 ASP VAL HEMOLYTIC UREMIC SYNDROME - ATYPICAL - SUSCEPTIBILITY TO - 3 CFI - ASP506VAL 243 243 GLY ASP GLOMERULONEPHRITIS WITH ISOLATED C3 DEPOSITS AND FACTOR I DEFICIENCY CFI - GLY243ASP 317 317 ARG TRP HEMOLYTIC UREMIC SYNDROME - ATYPICAL - SUSCEPTIBILITY TO - 3 CFI - ARG317TRP 519 519 ASP ASN HEMOLYTIC UREMIC SYNDROME - ATYPICAL - SUSCEPTIBILITY TO - 3 CFI - ASP519ASN 98 98 GLU ALA C6 A/B POLYMORPHISM C6 - GLU98ALA 499 521 ARG SER C7 DEFICIENCY C7 AND C6 DEFICIENCY - COMBINED SUBTOTAL C7 - ARG499SER 357 379 GLY ARG C7 DEFICIENCY C7 - GLY357ARG 208 208 ARG CYS APPARENT MINERALOCORTICOID EXCESS HSD11B2 - ARG208CYS 213 213 ARG CYS APPARENT MINERALOCORTICOID EXCESS HSD11B2 - ARG213CYS 337 337 ARG CYS APPARENT MINERALOCORTICOID EXCESS HSD11B2 - ARG337CYS 208 208 ARG HIS APPARENT MINERALOCORTICOID EXCESS HSD11B2 - ARG208HIS 337 337 ARG HIS APPARENT MINERALOCORTICOID EXCESS HSD11B2 - ARG337HIS - TYR338DEL 279 279 ARG CYS APPARENT MINERALOCORTICOID EXCESS HSD11B2 - ARG279CYS 227 227 PRO LEU HYPERTENSION - MILD LOW-RENIN APPARENT MINERALOCORTICOID EXCESS - MILD - INCLUDED HSD11B2 - PRO227LEU 223 223 ASP ASN APPARENT MINERALOCORTICOID EXCESS HSD11B2 - ASP223ASN - C7279T 89 90 ARG CYS BISPHOSPHOGLYCEROMUTASE DEFICIENCY - HEMOLYTIC ANEMIA DUE TO BPGM - ARG89CYS 304 364 ARG GLN FACTOR VII HARROW FACTOR VII PADUA F7 - ARG304GLN 310 370 CYS PHE FACTOR VII DEFICIENCY F7 - CYS310PHE 178 238 CYS TYR FACTOR VII DEFICIENCY F7 - CYS178TYR 247 307 ARG HIS FACTOR VII MIE F7 - ARG247HIS 359 419 THR MET FACTOR VII DEFICIENCY F7 - THR359MET 244 304 ALA VAL FACTOR VII DEFICIENCY F7 - ALA244VAL 57 117 ASN ASP FACTOR VII DEFICIENCY F7 - ASN57ASP 294 354 ALA VAL FACTOR VII DEFICIENCY F7 - ALA294VAL 353 413 ARG GLN MYOCARDIAL INFARCTION - DECREASED SUSCEPTIBILITY TO F7 - ARG353GLN 329 389 CYS GLY FACTOR VII DEFICIENCY F7 - CYS329GLY 25 85 GLU LYS FACTOR VII DEFICIENCY F7 - GLU25LYS 348 408 HIS GLN FACTOR VII DEFICIENCY F7 - HIS348GLN 354 414 GLY CYS FACTOR VII DEFICIENCY F7 - GLY354CYS 328 388 PHE SER FACTOR VII DEFICIENCY F7 - PHE328SER 366 366 ARG CYS FACTOR X SAN ANTONIO-1 F10 - ARG366CYS 14 54 GLU LYS FACTOR X VORARLBERG F10 - GLU14LYS 343 383 PRO SER FACTOR X FRIULI F10 - PRO343SER 334 374 SER PRO FACTOR X DEFICIENCY F10 - SER334PRO 102 142 GLU LYS FACTOR X DEFICIENCY F10 - GLU102LYS 282 322 ASP ASN FACTOR X STOCKTON F10 - ASP282ASN 7 47 GLU GLY FACTOR X ST. LOUIS-2 F10 - GLU7GLY 14 54 GLU GLY FACTOR X KETCHIKAN F10 - GLU14GLY 32 72 GLU GLN FACTOR X TOKYO F10 - GLU32GLN 249 289 GLY ARG FACTOR X DEFICIENCY - AUTOSOMAL DOMINANT F10 - GLY249ARG 298 338 VAL MET FACTOR X DEFICIENCY F10 - VAL298MET 287 327 ARG TRP FACTOR X DEFICIENCY F10 - ARG287TRP 554 554 LEU PRO FANCONI ANEMIA - COMPLEMENTATION GROUP C FANCC - LEU554PRO 496 496 LEU ARG FANCONI ANEMIA - COMPLEMEMENTATION GROUP C FANCC - LEU496ARG 1236 1236 ARG HIS FANCONI ANEMIA - COMPLEMENTATION GROUP D2 FANCD2 - ARG1236HIS 126 126 SER GLY FANCONI ANEMIA - COMPLEMENTATION GROUP D2 FANCD2 - SER126GLY AND 13-BP INS 302 302 ARG TRP FANCONI ANEMIA - COMPLEMENTATION GROUP D2 FANCD2 - ARG302TRP 529 548 CYS TYR PREKALLIKREIN DEFICIENCY KLKB1 - CYS529TYR 104 123 GLY ARG PREKALLIKREIN DEFICIENCY KLKB1 - GLY104ARG 124 143 ASN SER PREKALLIKREIN DEFICIENCY KLKB1 - ASN124SER 40 40 GLY ARG FRUCTOSURIA - ESSENTIAL KHK - GLY40ARG 43 43 ALA THR FRUCTOSURIA - ESSENTIAL KHK - ALA43THR 1 1 MET THR MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY ETFDH - MET1THR 84 84 ALA THR MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY ETFDH - ALA84THR 175 175 ARG LEU MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY ETFDH - ARG175LEU 127 127 LEU HIS MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY ETFDH - LEU127HIS 348 348 MET LYS PROPIONIC ACIDEMIA PCCA - MET348LYS 412 412 ARG TRP PROPIONIC ACIDEMIA PCCB - ARG412TRP 168 168 GLU LYS PROPIONIC ACIDEMIA PCCB - GLU168LYS 428 428 THR ILE PROPIONIC ACIDEMIA PCCB - THR428ILE 435 435 TYR CYS PROPIONIC ACIDEMIA PCCB - TYR435CYS 564 564 SER ILE GLYCINE ENCEPHALOPATHY GLDC - SER564ILE 515 515 ARG SER GLYCINE ENCEPHALOPATHY GLDC - ARG515SER 761 761 GLY ARG GLYCINE ENCEPHALOPATHY GLDC - GLY761ARG 802 802 ALA VAL GLYCINE ENCEPHALOPATHY GLDC - ALA802VAL 1 1 MET THR GLYCINE ENCEPHALOPATHY GLDC - MET1THR 389 389 ALA VAL GLYCINE ENCEPHALOPATHY GLDC - ALA389VAL 739 739 ARG HIS GLYCINE ENCEPHALOPATHY GLDC - ARG739HIS 269 269 GLY ASP GLYCINE ENCEPHALOPATHY AMT - GLY269ASP 47 47 GLY ARG GLYCINE ENCEPHALOPATHY AMT - GLY47ARG 42 42 HIS ARG GLYCINE ENCEPHALOPATHY AMT - HIS42ARG 276 276 ASP HIS GLYCINE ENCEPHALOPATHY AMT - ASP276HIS 320 320 ARG HIS GLYCINE ENCEPHALOPATHY AMT - ARG320HIS 37 37 LYS GLU MAPLE SYRUP URINE DISEASE - TYPE III DLD - LYS37GLU 453 453 PRO LEU MAPLE SYRUP URINE DISEASE - TYPE III DLD - PRO453LEU 460 460 ARG GLY MAPLE SYRUP URINE DISEASE - TYPE III DLD - ARG460GLY 229 229 GLY CYS MAPLE SYRUP URINE DISEASE - TYPE III DLD - GLY229CYS 393 393 ILE THR MAPLE SYRUP URINE DISEASE - TYPE III LEIGH SYNDROME - INCLUDED DLD - ILE393THR 375 375 GLU LYS MAPLE SYRUP URINE DISEASE - TYPE III DLD - GLU375LYS 361 361 MET VAL MAPLE SYRUP URINE DISEASE - TYPE III DLD - MET361VAL 493 493 LEU SER NEPHRONOPHTHISIS 2 INVS - LEU493SER 70 70 VAL LEU HMG-CoA LYASE DEFICIENCY HMGCL - VAL70LEU 41 41 ARG GLN HMG-CoA LYASE DEFICIENCY HMGCL - ARG41GLN 279 279 GLU LYS HMG-CoA LYASE DEFICIENCY HMGCL - GLU279LYS 215 276 PHE CYS MAPLE SYRUP URINE DISEASE - THIAMINE-RESPONSIVE - TYPE II DBT - PHE215CYS 37 98 ILE MET MAPLE SYRUP URINE DISEASE - INTERMEDIATE - TYPE II DBT - ILE37MET 323 384 GLY SER MAPLE SYRUP URINE DISEASE - INTERMEDIATE - TYPE II DBT - GLY323SER 391 452 HIS ARG MAPLE SYRUP URINE DISEASE - THIAMINE-RESPONSIVE - TYPE II DBT - HIS391ARG 183 183 ARG PRO MAPLE SYRUP URINE DISEASE - CLASSIC - TYPE IB BCKDHB - ARG183PRO 156 156 HIS TYR MAPLE SYRUP URINE DISEASE - CLASSIC - TYPE IB BCKDHB - HIS156TYR 69 69 VAL GLY MAPLE SYRUP URINE DISEASE - CLASSIC - TYPE IB BCKHDB - VAL69GLY 301 301 ASN THR MEVALONIC ACIDURIA MVK - ASN301THR 377 377 VAL ILE HYPER-IgD SYNDROME MVK - VAL377ILE 20 20 HIS PRO HYPER-IgD SYNDROME MEVALONIC ACIDURIA - INCLUDED MVK - HIS20PRO 268 268 ILE THR HYPER-IgD SYNDROME MEVALONIC ACIDURIA - INCLUDED MVK - ILE268THR 165 165 PRO LEU HYPER-IgD SYNDROME MVK - PRO165LEU 334 334 ALA THR MEVALONIC ACIDURIA MVK - ALA334THR 310 310 VAL MET MEVALONIC ACIDURIA MVK - VAL310MET 533 533 PRO ARG HURLER SYNDROME IDUA - PRO533ARG 409 409 GLY ARG HURLER SYNDROME IDUA - GLY409ARG AND TER654CYS 366 366 THR PRO HURLER SYNDROME IDUA - THR366PRO 492 492 ARG PRO SCHEIE SYNDROME IDUA - ARG492PRO 490 490 LEU PRO HURLER-SCHEIE SYNDROME IDUA - LEU490PRO 89 89 ARG GLN HURLER-SCHEIE SYNDROME IDUA - ARG89GLN 300 300 ALA THR IDUA PSEUDODEFICIENCY IDUA - ALA300THR 619 619 ARG GLY HURLER-SCHEIE SYNDROME IDUA - ARG619GLY 364 364 THR MET HURLER-SCHEIE SYNDROME IDUA - THR364MET 346 346 LEU ARG HURLER-SCHEIE SYNDROME HURLER SYNDROME - INCLUDED IDUA - LEU346ARG 96 96 ARG GLY OROTIC ACIDURIA UMPS - ARG96GLY AND GLY429ARG 429 429 GLY ARG OROTIC ACIDURIA UMPS - ARG96GLY AND GLY429ARG 109 109 VAL GLY OROTIC ACIDURIA UMPS - VAL109GLY 283 301 PHE LEU FACTOR XI DEFICIENCY F11 - PHE283LEU 442 460 PHE VAL FACTOR XI DEFICIENCY F11 - PHE442VAL 386 404 THR ASN FACTOR XI DEFICIENCY F11 - THR386ASN 308 326 ARG CYS FACTOR XI DEFICIENCY F11 - ARG308CYS 412 430 ALA VAL FACTOR XI DEFICIENCY F11 - ALA412VAL 576 594 SER ARG FACTOR XI DEFICIENCY F11 - SER576ARG 38 56 CYS ARG FACTOR XI DEFICIENCY F11 - CYS38ARG 252 270 LYS ILE FACTOR XI DEFICIENCY F11 - LYS252ILE 400 418 GLY VAL FACTOR XI DEFICIENCY F11 - GLY400VAL 569 587 TRP SER FACTOR XI DEFICIENCY F11 - TRP569SER 488 487 LEU PRO GHOSAL HEMATODIAPHYSEAL SYNDROME TBXAS1 - LEU488PRO 83 82 LEU PRO GHOSAL HEMATODIAPHYSEAL SYNDROME TBXAS1 - LEU83PRO 482 481 GLY TRP GHOSAL HEMATODIAPHYSEAL SYNDROME TBXAS1 - GLY482TRP 413 412 ARG GLU GHOSAL HEMATODIAPHYSEAL SYNDROME TBXAS1 - ARG413GLU 122 122 ARG HIS PANCREATITIS - HEREDITARY PRSS1 - ARG122HIS - 365G-A 29 29 ASN ILE PANCREATITIS - HEREDITARY PRSS1 - ASN29ILE 23 23 LYS ARG PANCREATITIS - HEREDITARY PRSS1 - LYS23ARG 79 79 GLU LYS PANCREATITIS - HEREDITARY PRSS1 - GLU79LYS 54 54 ASN SER PANCREATITIS - HEREDITARY PRSS1 - ASN54SER 122 122 ARG HIS PANCREATITIS - HEREDITARY PRSS1 - ARG122HIS - 365GC-AT 122 122 ARG CYS PANCREATITIS - HEREDITARY PRSS1 - ARG122CYS 121 121 ALA THR RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE PRSS1 - ALA121THR 116 116 ARG CYS PANCREATITIS - HEREDITARY PRSS1 - ARG116CYS 16 16 ASN ILE TYROSINEMIA - TYPE I FAH - ASN16ILE 134 134 ALA ASP TYROSINEMIA - TYPE I FAH - ALA134ASP 341 341 ARG TRP FUMARYLACETOACETASE PSEUDODEFICIENCY FAH - ARG341TRP 337 337 GLU SER TYROSINEMIA - TYPE I FAH - GLU337SER 381 381 ARG GLY TYROSINEMIA - TYPE I FAH - ARG381GLY 279 279 GLN ARG TYROSINEMIA - TYPE I FAH - GLN279ARG 212 212 ARG HIS USHER SYNDROME - TYPE IB MYO7A - ARG212HIS 212 212 ARG CYS USHER SYNDROME - TYPE IB MYO7A - ARG212CYS 302 302 ARG HIS USHER SYNDROME - TYPE IB MYO7A - ARG302HIS 244 244 ARG PRO DEAFNESS - AUTOSOMAL RECESSIVE 2 MYO7A - ARG244PRO 599 599 MET ILE DEAFNESS - AUTOSOMAL RECESSIVE 2 USHER SYNDROME - TYPE IB - INCLUDED MYO7A - MET599ILE 1087 1087 LEU PRO USHER SYNDROME - TYPE IB MYO7A - 1-BP DEL AND LEU1087PRO 458 458 ASN ILE DEAFNESS - AUTOSOMAL DOMINANT 11 MYO7A - ASN458ILE 133 133 ARG CYS RETT SYNDROME - ZAPPELLA VARIANT RETT SYNDROME - INCLUDED MECP2 - ARG133CYS 155 155 PHE SER RETT SYNDROME MECP2 - PHE155SER 158 158 THR MET RETT SYNDROME ENCEPHALOPATHY - NEONATAL SEVERE - DUE TO MECP2 MUTATION - INCLUDED MECP2 - THR158MET 106 106 ARG TRP RETT SYNDROME MECP2 - ARG106TRP 140 140 ALA VAL MENTAL RETARDATION - X-LINKED - SYNDROMIC 13 MECP2 - ALA140VAL 306 306 ARG CYS RETT SYNDROME MECP2 - ARG306CYS 137 137 GLU GLY MENTAL RETARDATION - X-LINKED - SYNDROMIC 13 MECP2 - GLU137GLY 428 428 GLY SER ENCEPHALOPATHY - NEONATAL SEVERE - DUE TO MECP2 MUTATION MECP2 - GLY428SER 100 100 LEU VAL RETT SYNDROME MECP2 - LEU100VAL 225 225 PRO LEU MENTAL RETARDATION - X-LINKED - SYNDROMIC 13 MECP2 - PRO225LEU 322 322 PRO SER MENTAL RETARDATION - X-LINKED - SYNDROMIC 13 MECP2 - PRO322SER 152 152 PRO ALA RETT SYNDROME - ZAPPELLA VARIANT MECP2 - PRO152ALA 2 2 ALA VAL RETT SYNDROME MECP2 - ALA2VAL 200 200 LEU ARG DENT DISEASE 1 CLCN5 - LEU200ARG 520 520 SER PRO DENT DISEASE 1 CLCN5 - SER520PRO 506 506 GLY GLU NEPHROLITHIASIS - X-LINKED RECESSIVE CLCN5 - GLY506GLU 244 244 SER LEU HYPOPHOSPHATEMIC RICKETS - X-LINKED RECESSIVE CLCN5 - SER244LEU 280 280 ARG PRO PROTEINURIA - LOW MOLECULAR WEIGHT - WITH HYPERCALCIURIA AND NEPHROCALCINOSIS CLCN5 - ARG280PRO 57 57 GLY VAL NEPHROLITHIASIS - X-LINKED RECESSIVE CLCN5 - GLY57VAL 260 260 GLY VAL DENT DISEASE 1 CLCN5 - GLY260VAL 637 637 SER LEU OCCIPITAL HORN SYNDROME ATP7A - SER637LEU 1019 1019 GLY ASP MENKES DISEASE ATP7A - GLY1019ASP 1304 1304 ASN SER OCCIPITAL HORN SYNDROME ATP7A - ASN1304SER 994 994 THR ILE SPINAL MUSCULAR ATROPHY - DISTAL - X-LINKED 3 ATP7A - THR994ILE 1386 1386 PRO SER SPINAL MUSCULAR ATROPHY - DISTAL - X-LINKED 3 ATP7A - PRO1386SER 656 656 LEU PHE HETEROTOPIA - PERIVENTRICULAR NODULAR - X-LINKED DOMINANT FLNA - LEU656PHE 82 82 GLU VAL HETEROTOPIA - PERIVENTRICULAR NODULAR - X-LINKED DOMINANT FLNA - GLU82VAL 207 207 PRO LEU OTOPALATODIGITAL SYNDROME - TYPE I FLNA - PRO207LEU 254 254 GLU LYS OTOPALATODIGITAL SYNDROME - TYPE II FLNA - GLU254LYS 1159 1159 ASP ALA FRONTOMETAPHYSEAL DYSPLASIA FLNA - ASP1159ALA 1188 1188 ALA THR MELNICK-NEEDLES SYNDROME FLNA - ALA1188THR 1199 1199 SER LEU MELNICK-NEEDLES SYNDROME FLNA - SER1199LEU 1186 1186 SER LEU FRONTOMETAPHYSEAL DYSPLASIA FLNA - SER1186LEU 39 39 ALA GLY HETEROTOPIA - PERIVENTRICULAR - EHLERS-DANLOS VARIANT FLNA - ALA39GLY 203 203 ASP TYR OTOPALATODIGITAL SYNDROME - TYPE I FLNA - ASP203TYR 128 128 ALA VAL HETEROTOPIA - PERIVENTRICULAR - EHLERS-DANLOS VARIANT FLNA - ALA128VAL 1728 1728 GLY CYS OTOPALATODIGITAL SPECTRUM DISORDER FLNA - GLY1728CYS 196 196 ARG TRP OTOPALATODIGITAL SYNDROME - TYPE I OTOPALATODIGITAL SYNDROME - TYPE II - INCLUDED FLNA - ARG196TRP 210 210 CYS PHE OTOPALATODIGITAL SYNDROME - TYPE II FLNA - CYS210PHE 1291 1291 PRO LEU FG SYNDROME 2 FLNA - PRO1291LEU 637 637 PRO GLN CARDIAC VALVULAR DYSPLASIA - X-LINKED FLNA - PRO637GLN 288 288 GLY ARG CARDIAC VALVULAR DYSPLASIA - X-LINKED FLNA - GLY288ARG 711 711 VAL ASP CARDIAC VALVULAR DYSPLASIA - X-LINKED FLNA - VAL711ASP 750 750 HIS ARG ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME - X-LINKED ATRX - HIS750ARG 755 755 CYS ARG ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME - X-LINKED ATRX - CYS755ARG 792 792 LYS ASN ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME - X-LINKED ATRX - LYS792ASN 1002 1002 ASN SER ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME - X-LINKED ATRX - ASN1002SER 1177 1177 ASP VAL ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME - X-LINKED ATRX - ASP1177VAL 1226 1226 TYR HIS ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME - X-LINKED ATRX - TYR1226HIS 1305 1305 TYR CYS ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME - X-LINKED ATRX - TYR1305CYS 1272 1272 ARG GLN MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME - X-LINKED ATRX - ARG1272GLN 852 852 PRO SER MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME - X-LINKED ATRX - PRO852SER 73 73 PRO ALA ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME - X-LINKED ATRX - PRO73ALA 129 129 ARG CYS ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME - X-LINKED ATRX - ARG129CYS 1742 1742 ARG LYS ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME - X-LINKED ATRX - ARG1742LYS 246 246 ARG CYS ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME - X-LINKED ATRX - ARG246CYS 1621 1621 THR MET ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME - X-LINKED ATRX - THR1621MET 409 409 LEU SER MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME - X-LINKED ATRX - LEU409SER 2052 2052 ILE THR MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME - X-LINKED ATRX - ILE2052THR 220 220 CYS TYR MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME - X-LINKED ATRX - CYS220TYR 2271 2271 ARG GLY MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME - X-LINKED ATRX - ARG2271GLY 21 21 GLY VAL MENTAL RETARDATION - X-LINKED 88 AGTR2 - GLY21VAL 324 324 ARG GLN MENTAL RETARDATION - X-LINKED 88 AGTR2 - ARG324GLN 337 337 ILE VAL MENTAL RETARDATION - X-LINKED 88 AGTR2 - ILE337VAL 53 53 ILE PHE MENTAL RETARDATION - X-LINKED 88 AGTR2 - ILE53PHE 111 111 THR ILE CRANIOFRONTONASAL SYNDROME EFNB1 - THR111ILE 54 54 PRO LEU CRANIOFRONTONASAL SYNDROME EFNB1 - PRO54LEU 151 151 GLY SER CRANIOFRONTONASAL SYNDROME EFNB1 - GLY151SER 151 151 GLY VAL CRANIOFRONTONASAL SYNDROME EFNB1 - GLY151VAL 158 158 MET VAL CRANIOFRONTONASAL SYNDROME EFNB1 - MET158VAL 158 158 MET ILE CRANIOFRONTONASAL SYNDROME EFNB1 - MET158ILE 37 37 TRP GLY CRANIOFRONTONASAL SYNDROME EFNB1 - TRP37GLY 381 381 GLY ARG CREATINE DEFICIENCY SYNDROME - X-LINKED SLC6A8 - GLY381ARG 87 87 GLY ARG CREATINE DEFICIENCY SYNDROME - X-LINKED SLC6A8 - GLY87ARG 337 337 CYS TRP CREATINE DEFICIENCY SYNDROME - X-LINKED SLC6A8 - CYS337TRP 132 132 GLY VAL CREATINE DEFICIENCY SYNDROME - X-LINKED SLC6A8 - GLY132VAL 491 491 CYS TRP CREATINE DEFICIENCY SYNDROME - X-LINKED SLC6A8 - CYS491TRP 296 296 TRP ARG SIMPSON-GOLABI-BEHMEL SYNDROME - TYPE 1 GPC3 - TRP296ARG 558 558 HIS TYR WILMS TUMOR - SOMATIC GPC3 - HIS558TYR 1902 1902 ALA THR WILMS TUMOR - SOMATIC GPC3 - ALA1902THR 556 556 GLY ARG SIMPSON-GOLABI-BEHMEL SYNDROME - TYPE 1 GPC3 - GLY556ARG 317 317 LEU TRP DEAFNESS - X-LINKED 2; DFNX2 POU3F4 - LEU317TRP 334 334 LYS GLU DEAFNESS - X-LINKED 2; DFNX2 POU3F4 - LYS334GLU 330 330 ARG SER DEAFNESS - X-LINKED 2; DFNX2 POU3F4 - ARG330SER 323 323 ARG GLY DEAFNESS - X-LINKED 2; DFNX2 POU3F4 - ARG323GLY 493 493 GLU ALA CORNELIA DE LANGE SYNDROME 2 SMC1A - GLU493ALA 496 496 ARG HIS CORNELIA DE LANGE SYNDROME 2 SMC1A - ARG496HIS 784 784 ILE THR CORNELIA DE LANGE SYNDROME 2 SMC1A - ILE784THR 217 217 ARG CYS MICROPHTHALMIA - SYNDROMIC - 7 HCCS - ARG217CYS 75 75 GLY VAL COFFIN-LOWRY SYNDROME RPS6KA3 - GLY75VAL 227 227 SER ALA COFFIN-LOWRY SYNDROME RPS6KA3 - SER227ALA 82 82 VAL PHE COFFIN-LOWRY SYNDROME RPS6KA3 - VAL82PHE 114 114 ARG TRP COFFIN-LOWRY SYNDROME RPS6KA3 - ARG114TRP 729 729 ARG GLN COFFIN-LOWRY SYNDROME RPS6KA3 - ARG729GLN 383 383 ARG TRP MENTAL RETARDATION - X-LINKED 19 RPS6KA3 - ARG383TRP 189 189 ILE LYS COFFIN-LOWRY SYNDROME RPS6KA3 - ILE189LYS 268 268 PHE SER COFFIN-LOWRY SYNDROME RPS6KA3 - PHE268SER 8 8 GLY ARG MITOCHONDRIAL COMPLEX I DEFICIENCY NDUFA1 - GLY8ARG 37 37 ARG SER MITOCHONDRIAL COMPLEX I DEFICIENCY NDUFA1 - ARG37SER 512 438 LEU PRO ALLAN-HERNDON-DUDLEY SYNDROME SLC16A2 - LEU512PRO 224 150 ALA VAL ALLAN-HERNDON-DUDLEY SYNDROME SLC16A2 - ALA224VAL 397 397 LEU PRO ALLAN-HERNDON-DUDLEY SYNDROME SLC16A2 - LEU397PRO 568 494 LEU PRO ALLAN-HERNDON-DUDLEY SYNDROME SLC16A2 - LEU568PRO 434 360 LEU TRP ALLAN-HERNDON-DUDLEY SYNDROME SLC16A2 - LEU434TRP 172 172 PRO HIS MENTAL RETARDATION - X-LINKED 58 TM4SF2 - PRO172HIS 92 92 LEU PRO MENTAL RETARDATION - X-LINKED 41 GDI1 - LEU92PRO 423 423 ARG PRO MENTAL RETARDATION - X-LINKED 48 GDI1 - ARG423PRO 56 56 GLY SER MENTAL RETARDATION - X-LINKED - SNYDER-ROBINSON TYPE SMS - GLY56SER 132 132 VAL GLY MENTAL RETARDATION - X-LINKED - SNYDER-ROBINSON TYPE SMS - VAL132GLY 369 604 GLY ASP NIGHT BLINDNESS - CONGENITAL STATIONARY - TYPE 2A CACNA1F - GLY369ASP 745 980 ILE THR NIGHT BLINDNESS - CONGENITAL STATIONARY - TYPE 2A - SEVERE CACNA1F - ILE745THR 62 143 ASP ASN LISSENCEPHALY - X-LINKED - 1 SUBCORTICAL LAMINAR HETEROTOPIA - X-LINKED - INCLUDED DCX - ASP62ASN 192 273 ARG TRP LISSENCEPHALY - X-LINKED - 1 SUBCORTICAL LAMINAR HETEROTOPIA - X-LINKED - INCLUDED DCX - ARG192TRP 125 206 TYR HIS LISSENCEPHALY - X-LINKED - 1 SUBCORTICAL LAMINAR HETEROTOPIA - X-LINKED - INCLUDED DCX - TYR125HIS 59 140 ARG LEU LISSENCEPHALY - X-LINKED - 1 SUBCORTICAL LAMINAR HETEROTOPIA - X-LINKED - INCLUDED DCX - ARG59LEU 203 284 THR ARG LISSENCEPHALY - X-LINKED - 1 SUBCORTICAL LAMINAR HETEROTOPIA - X-LINKED - INCLUDED DCX - THR203ARG 47 128 SER ARG LISSENCEPHALY - X-LINKED - 1 SUBCORTICAL LAMINAR HETEROTOPIA - X-LINKED - INCLUDED DCX - SER47ARG 78 159 ARG HIS SUBCORTICAL LAMINAR HETEROTOPIA - X-LINKED DCX - ARG78HIS 89 170 ARG GLY SUBCORTICAL LAMINAR HETEROTOPIA - X-LINKED DCX - ARG89GLY 196 277 ARG HIS LISSENCEPHALY - X-LINKED - 1 SUBCORTICAL LAMINAR HETEROTOPIA - X-LINKED - INCLUDED DCX - ARG196HIS 71 152 ALA SER LISSENCEPHALY - X-LINKED - 1 SUBCORTICAL LAMINAR HETEROTOPIA - X-LINKED - INCLUDED DCX - ALA71SER 36 36 PHE VAL DYSKERATOSIS CONGENITA - X-LINKED DKC1 - PHE36VAL 40 40 PRO ARG DYSKERATOSIS CONGENITA - X-LINKED DKC1 - PRO40ARG 72 72 LEU TYR DYSKERATOSIS CONGENITA - X-LINKED DKC1 - LEU72TYR 402 402 GLY GLU DYSKERATOSIS CONGENITA - X-LINKED DKC1 - GLY402GLU 353 353 ALA VAL DYSKERATOSIS CONGENITA - X-LINKED HOYERAAL-HREIDARSSON SYNDROME - INCLUDED DKC1 - ALA353VAL 49 49 THR MET HOYERAAL-HREIDARSSON SYNDROME DYSKERATOSIS CONGENITA - X-LINKED - INCLUDED DKC1 - THR49MET 121 121 SER GLY HOYERAAL-HREIDARSSON SYNDROME DKC1 - SER121GLY 38 38 ILE THR HOYERAAL-HREIDARSSON SYNDROME DKC1 - ILE38THR 31 31 GLN LYS DYSKERATOSIS CONGENITA - X-LINKED DKC1 - GLN31LYS 357 357 THR ALA DYSKERATOSIS CONGENITA - X-LINKED DKC1 - THR357ALA 400 400 ILE MET ANEMIA - SIDEROBLASTIC - AND SPINOCEREBELLAR ATAXIA ABCB7 - ILE400MET 433 433 GLU LYS ANEMIA - SIDEROBLASTIC - AND SPINOCEREBELLAR ATAXIA ABCB7 - GLU433LYS 411 411 VAL LEU ANEMIA - SIDEROBLASTIC - AND SPINOCEREBELLAR ATAXIA ABCB7 - VAL411LEU 67 67 ARG CYS MENTAL RETARDATION - X-LINKED 30 PAK3 - ARG67CYS 365 365 ALA GLU MENTAL RETARDATION - X-LINKED 30 PAK3 - ALA365GLU 446 446 TRP SER MENTAL RETARDATION - X-LINKED 30 PAK3 - TRP446SER 529 529 ARG SER MENTAL RETARDATION - X-LINKED 63 ACSL4 - ARG529SER 375 375 PRO LEU MENTAL RETARDATION - X-LINKED 68 ACSL4 - PRO375LEU 122 122 TRP SER SCAPULOPERONEAL MYOPATHY - X-LINKED DOMINANT FHL1 - TRP122SER 224 224 CYS TRP MYOPATHY - X-LINKED - WITH POSTURAL MUSCLE ATROPHY FHL1 - CYS224TRP 123 123 HIS TYR MYOPATHY - REDUCING BODY - X-LINKED - SEVERE EARLY-ONSET FHL1 - HIS123TYR 132 132 CYS PHE MYOPATHY - REDUCING BODY - X-LINKED - SEVERE EARLY-ONSET FHL1 - CYS132PHE 153 153 CYS ARG MYOPATHY - REDUCING BODY - X-LINKED - CHILDHOOD-ONSET FHL1 - CYS153ARG 153 153 CYS TYR MYOPATHY - REDUCING BODY - X-LINKED - CHILDHOOD-ONSET FHL1 - CYS153TYR 150 150 CYS TYR MYOPATHY - REDUCING BODY - X-LINKED - SEVERE EARLY-ONSET FHL1 - CYS150TYR 104 104 CYS ARG MYOPATHY - REDUCING BODY - X-LINKED - CHILDHOOD-ONSET FHL1 - CYS104ARG 209 209 CYS ARG EMERY-DREIFUSS MUSCULAR DYSTROPHY 6 FHL1 - CYS209ARG 280 280 VAL MET MYOPATHY - X-LINKED - WITH POSTURAL MUSCLE ATROPHY FHL1 - VAL280MET 123 123 HIS LEU MYOPATHY - REDUCING BODY - X-LINKED - SEVERE EARLY-ONSET FHL1 - HIS123LEU 123 123 HIS GLN MYOPATHY - REDUCING BODY - X-LINKED - SEVERE EARLY-ONSET FHL1 - HIS123GLN 434 435 SER ARG OROFACIODIGITAL SYNDROME I CXORF5 - SER434ARG 28 28 ARG LEU FG SYNDROME 4 CASK - ARG28LEU 268 268 TYR HIS MENTAL RETARDATION - X-LINKED - CASK-RELATED CASK - TYR268HIS 710 710 ASP GLY MENTAL RETARDATION - X-LINKED - CASK-RELATED CASK - ASP710GLY 914 914 TRP ARG MENTAL RETARDATION - X-LINKED - CASK-RELATED CASK - TRP914ARG 396 396 PRO SER MENTAL RETARDATION - X-LINKED - CASK-RELATED CASK - PRO396SER 12 12 ARG SER CHONDRODYSPLASIA PUNCTATA 1 - X-LINKED RECESSIVE ARSE - ARG12SER 117 117 GLY ARG CHONDRODYSPLASIA PUNCTATA 1 - X-LINKED RECESSIVE ARSE - GLY117ARG 111 111 ARG PRO CHONDRODYSPLASIA PUNCTATA 1 - X-LINKED RECESSIVE ARSE - ARG111PRO 137 137 GLY VAL CHONDRODYSPLASIA PUNCTATA 1 - X-LINKED RECESSIVE ARSE - GLY137VAL 245 245 GLY ARG CHONDRODYSPLASIA PUNCTATA 1 - X-LINKED RECESSIVE ARSE - GLY245ARG 492 492 CYS TYR CHONDRODYSPLASIA PUNCTATA 1 - X-LINKED RECESSIVE ARSE - CYS492TYR 578 578 PRO SER CHONDRODYSPLASIA PUNCTATA 1 - X-LINKED RECESSIVE ARSE - PRO578SER 961 961 ARG TRP OPITZ-KAVEGGIA SYNDROME MED12 - ARG961TRP 1007 1007 ASN SER LUJAN-FRYNS SYNDROME MED12 - ASN1007SER 83 83 PHE SER SPONDYLOEPIPHYSEAL DYSPLASIA TARDA SEDL - PHE83SER 152 152 CYS PHE EPILEPTIC ENCEPHALOPATHY - EARLY INFANTILE - 2 CDKL5 - CYS152PHE 175 175 ARG SER EPILEPTIC ENCEPHALOPATHY - EARLY INFANTILE - 2 CDKL5 - ARG175SER 40 40 ALA VAL EPILEPTIC ENCEPHALOPATHY - EARLY INFANTILE - 2 CDKL5 - ALA40VAL 72 72 ILE THR EPILEPTIC ENCEPHALOPATHY - EARLY INFANTILE - 2 CDKL5 - ILE72THR 288 288 THR ILE EPILEPTIC ENCEPHALOPATHY - EARLY INFANTILE - 2 CDKL5 - THR288ILE 291 291 CYS TYR EPILEPTIC ENCEPHALOPATHY - EARLY INFANTILE - 2 CDKL5 - CYS291TYR 178 178 ARG PRO EPILEPTIC ENCEPHALOPATHY - EARLY INFANTILE - 2 CDKL5 - ARG178PRO 80 80 GLU LYS CHONDRODYSPLASIA PUNCTATA 2 - X-LINKED DOMINANT EBP - GLU80LYS 147 147 ARG HIS CHONDRODYSPLASIA PUNCTATA 2 - X-LINKED DOMINANT EBP - ARG147HIS 18 18 LEU PRO CHONDRODYSPLASIA PUNCTATA 2 - X-LINKED DOMINANT - ATYPICAL EBP - LEU18PRO 235 235 TYR CYS OVARIAN DYSGENESIS 2 BMP15 - TYR235CYS 76 76 ARG CYS PREMATURE OVARIAN FAILURE 4 BMP15 - ARG76CYS 180 180 ALA THR PREMATURE OVARIAN FAILURE 4 BMP15 - ALA180THR 68 68 ARG TRP PREMATURE OVARIAN FAILURE 4 BMP15 - ARG68TRP 180 180 ALA THR PREMATURE OVARIAN FAILURE 4 BMP15 - ALA180THR 407 407 MET VAL INCONTINENTIA PIGMENTI - TYPE II IKBKG - MET407VAL 417 417 CYS ARG ECTODERMAL DYSPLASIA - HYPOHIDROTIC - WITH IMMUNE DEFICIENCY HYPER-IgM IMMUNODEFICIENCY - X-LINKED - WITH ECTODERMAL DYSPLASIA - HYPOHIDROTIC - INCLUDED IKBKG - CYS417ARG 417 417 CYS PHE ECTODERMAL DYSPLASIA - HYPOHIDROTIC - WITH IMMUNE DEFICIENCY IKBKG - CYS417PHE 406 406 ASP VAL HYPER-IgM IMMUNODEFICIENCY - X-LINKED - WITH ECTODERMAL DYSPLASIA - HYPOHIDROTIC IKBKG - ASP406VAL 153 153 LYS ARG ECTODERMAL DYSPLASIA - HYPOHIDROTIC - WITH IMMUNE DEFICIENCY IKBKG - LYS153ARG 288 288 ALA GLY ECTODERMAL DYSPLASIA - ANHIDROTIC - WITH IMMUNE DEFICIENCY IKBKG - ALA288GLY 315 315 GLU ALA MYCOBACTERIAL DISEASE - SUSCEPTIBILITY TO - X-LINKED - 1 IKBKG - GLU315ALA 319 319 ARG GLN MYCOBACTERIAL DISEASE - SUSCEPTIBILITY TO - X-LINKED - 1 IKBKG - ARG319GLN 173 173 ARG GLY INVASIVE PNEUMOCOCCAL DISEASE - RECURRENT ISOLATED - 2 IKBKG - 518C-G - ARG173GLY 130 130 ARG CYS 17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY HSD17B10 - ARG130CYS 122 122 LEU VAL 17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY HSD17B10 - LEU122VAL 247 247 ASN SER 17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY HSD17B10 - ASN247SER 192 192 ARG ARG MENTAL RETARDATION - X-LINKED - SYNDROMIC 10 HSD17B10 - ARG192ARG 249 249 GLU GLN 17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY HSD17B10 - GLU249GLN 325 325 THR MET HETEROTAXY - VISCERAL - 1 - X-LINKED ZIC3 - THR325MET 253 253 CYS SER HETEROTAXY - VISCERAL - 1 - X-LINKED ZIC3 - CYS253SER 405 405 LYS GLU HETEROTAXY - VISCERAL - 1 - X-LINKED ZIC3 - LYS405GLU 217 217 PRO ALA CONGENITAL HEART DEFECTS - NONSYNDROMIC - 1 - X-LINKED ZIC3 - PRO217ALA 255 255 TRP GLY HETEROTAXY - VISCERAL - 1 - X-LINKED ZIC3 - TRP255GLY 105 105 ALA VAL CHILD SYNDROME NSDHL - ALA105VAL 205 205 GLY SER CHILD SYNDROME NSDHL - GLY205SER 182 182 ALA PRO CHILD SYNDROME NSDHL - ALA182PRO 187 187 ALA LYS NIGHT BLINDNESS - CONGENITAL STATIONARY - TYPE 1A NYX - ALA187LYS 94 94 ARG PRO NIGHT BLINDNESS - CONGENITAL STATIONARY - TYPE 1A NYX - ARG94PRO 101 101 ILE THR NIGHT BLINDNESS - CONGENITAL STATIONARY - TYPE 1A NYX - ILE101THR 397 397 ARG TRP IMMUNODYSREGULATION - POLYENDOCRINOPATHY - AND ENTEROPATHY - X-LINKED FOXP3 - ARG397TRP 371 371 PHE CYS IMMUNODYSREGULATION - POLYENDOCRINOPATHY - AND ENTEROPATHY - X-LINKED FOXP3 - PHE371CYS 384 384 ALA THR IMMUNODYSREGULATION - POLYENDOCRINOPATHY - AND ENTEROPATHY - X-LINKED FOXP3 - ALA384THR 373 373 PHE ALA IMMUNODYSREGULATION - POLYENDOCRINOPATHY - AND ENTEROPATHY - X-LINKED FOXP3 - PHE373ALA 324 324 PHE LYS IMMUNODYSREGULATION - POLYENDOCRINOPATHY - AND ENTEROPATHY - X-LINKED FOXP3 - PHE324LYS 1 1 MET ILE IMMUNODYSREGULATION - POLYENDOCRINOPATHY - AND ENTEROPATHY - X-LINKED FOXP3 - MET1ILE 367 367 PRO LEU IMMUNODYSREGULATION - POLYENDOCRINOPATHY - AND ENTEROPATHY - X-LINKED FOXP3 - PRO367LEU 277 277 HIS LEU IFAP SYNDROME MBTPS2 - HIS277LEU 87 87 MET ILE IFAP SYNDROME MBTPS2 - MET87ILE 429 429 ARG HIS IFAP SYNDROME MBTPS2 - ARG429HIS 475 475 PHE SER IFAP SYNDROME MBTPS2 - PHE475SER 226 226 TRP LEU IFAP SYNDROME MBTPS2 - TRP226LEU 160 160 TYR ASP MENTAL RETARDATION - X-LINKED - SYNDROMIC 14 UPF3B - TYR160ASP 525 525 ARG GLN AGAMMAGLOBULINEMIA - X-LINKED BTK - ARG525GLN 430 430 LYS GLU AGAMMAGLOBULINEMIA - X-LINKED BTK - LYS430GLU 361 361 TYR CYS HYPOAGAMMAGLOBULINEMIA - X-LINKED BTK - TYR361CYS 28 28 ARG HIS AGAMMAGLOBULINEMIA - X-LINKED BTK - ARG28HIS 1 1 MET THR AGAMMAGLOBULINEMIA - X-LINKED BTK - MET1THR 33 33 THR PRO AGAMMAGLOBULINEMIA - X-LINKED BTK - THR33PRO 113 113 VAL ASP AGAMMAGLOBULINEMIA - X-LINKED BTK - VAL113ASP 288 288 ARG TRP AGAMMAGLOBULINEMIA - X-LINKED BTK - ARG288TRP 307 307 ARG GLY AGAMMAGLOBULINEMIA - X-LINKED BTK - ARG307GLY 334 334 TYR SER AGAMMAGLOBULINEMIA - X-LINKED BTK - TYR334SER 408 408 LEU PRO AGAMMAGLOBULINEMIA - X-LINKED BTK - LEU408PRO 506 506 CYS ARG AGAMMAGLOBULINEMIA - X-LINKED BTK - CYS506ARG 520 520 ARG GLN AGAMMAGLOBULINEMIA - X-LINKED BTK - ARG520GLN 542 542 LEU PRO ISOLATED GROWTH HORMONE DEFICIENCY - TYPE III BTK - LEU542PRO 562 562 ARG TRP AGAMMAGLOBULINEMIA - X-LINKED BTK - ARG562TRP 581 581 TYR ARG AGAMMAGLOBULINEMIA - X-LINKED BTK - TYR581ARG 589 589 GLU GLY AGAMMAGLOBULINEMIA - X-LINKED BTK - GLU589GLY 607 607 ALA ASP AGAMMAGLOBULINEMIA - X-LINKED BTK - ALA607ASP 613 613 GLY ASP AGAMMAGLOBULINEMIA - X-LINKED BTK - GLY613ASP 630 630 MET LYS AGAMMAGLOBULINEMIA - X-LINKED BTK - MET630LYS 652 652 LEU PRO AGAMMAGLOBULINEMIA - X-LINKED BTK - LEU652PRO 562 562 ARG PRO AGAMMAGLOBULINEMIA - X-LINKED BTK - ARG562PRO 572 572 ARG CYS MENTAL RETARDATION - X-LINKED - WITH SHORT STATURE - HYPOGONADISM - AND ABNORMAL GAIT CUL4B - ARG572CYS 260 260 THR MET CLEFT PALATE WITH ANKYLOGLOSSIA TBX22 - THR260MET 118 118 GLY CYS CLEFT PALATE WITH ANKYLOGLOSSIA TBX22 - GLY118CYS 214 214 LEU PRO CLEFT PALATE WITH ANKYLOGLOSSIA TBX22 - LEU214PRO 264 264 ASN TYR CLEFT PALATE WITH ANKYLOGLOSSIA TBX22 - ASN264TYR 451 451 ARG CYS AUTISM - SUSCEPTIBILITY TO - X-LINKED 1 ASPERGER SYNDROME - SUSCEPTIBILITY TO - X-LINKED 1 - INCLUDED NLGN3 - ARG451CYS 66 66 CYS TRP MOHR-TRANEBJAERG SYNDROME TIMM8A - CYS66TRP 291 291 GLU LYS ADRENOLEUKODYSTROPHY ABCD1 - GLU291LYS 484 484 PRO ARG ADRENOLEUKODYSTROPHY ABCD1 - PRO484ARG 389 389 ARG GLY ADRENOMYELONEUROPATHY ABCD1 - ARG389GLY 148 148 ASN SER ADRENOLEUKODYSTROPHY ABCD1 - ASN148SER 174 174 TYR ASP ADRENOLEUKODYSTROPHY ABCD1 - TYR174ASP 266 266 GLY ARG ADRENOLEUKODYSTROPHY ABCD1 - GLY266ARG 401 401 ARG GLN ADRENOLEUKODYSTROPHY ABCD1 - ARG401GLN 418 418 ARG TRP ADRENOLEUKODYSTROPHY ABCD1 - ARG418TRP 515 515 SER PHE ADRENOLEUKODYSTROPHY ABCD1 - SER515PHE 518 518 ARG TRP ADRENOMYELONEUROPATHY ABCD1 - ARG518TRP 606 606 SER LEU ADDISON DISEASE ABCD1 - SER606LEU 617 617 ARG HIS ADRENOMYELONEUROPATHY ABCD1 - ARG617HIS 617 617 ARG CYS ADRENOLEUKODYSTROPHY ABCD1 - ARG617CYS 54 54 LEU ARG DUCHENNE MUSCULAR DYSTROPHY DMD - LEU54ARG 3340 3340 CYS TYR DUCHENNE MUSCULAR DYSTROPHY - MENTAL RETARDATION - AND ABSENCE OF ERG B-WAVE DMD - CYS3340TYR 168 168 ALA ASP BECKER MUSCULAR DYSTROPHY DMD - ALA168ASP 231 231 TYR ASN BECKER MUSCULAR DYSTROPHY DMD - TYR231ASN 773 773 LYS GLU DUCHENNE MUSCULAR DYSTROPHY DMD - LYS773GLU 2910 2910 GLU VAL DUCHENNE MUSCULAR DYSTROPHY DMD - GLU2910VAL 2912 2912 ASN ASP DUCHENNE MUSCULAR DYSTROPHY DMD - ASN2912ASP 2921 2921 HIS ARG BECKER MUSCULAR DYSTROPHY DMD - HIS2921ARG 3421 3421 ALA VAL BECKER MUSCULAR DYSTROPHY DMD - ALA3421VAL 279 279 THR ALA CARDIOMYOPATHY - DILATED - 3B DMD - THR279ALA 353 353 PRO LEU EPILEPTIC ENCEPHALOPATHY - EARLY INFANTILE - 1 ARX - PRO353LEU 332 332 ARG HIS LISSENCEPHALY - X-LINKED - 2 ARX - ARG332HIS 343 343 LEU GLN LISSENCEPHALY - X-LINKED - 2 ARX - LEU343GLN 33 33 LEU PRO MENTAL RETARDATION - X-LINKED - WITH OR WITHOUT SEIZURES - ARX-RELATED ARX - LEU33PRO 286 286 GLY SER MENTAL RETARDATION - X-LINKED - WITH OR WITHOUT SEIZURES - ARX-RELATED ARX - GLY286SER 333 333 THR ASN CORPUS CALLOSUM - AGENESIS OF - WITH ABNORMAL GENITALIA ARX - THR333ASN 73 100 ARG TRP PROPERDIN DEFICIENCY - TYPE II PFC - ARG73TRP 271 298 GLY VAL PROPERDIN DEFICIENCY - TYPE I PFC - GLY271VAL 387 414 TYR ASP PROPERDIN DEFICIENCY - TYPE III PFC - TYR387ASP 1 1 MET VAL EMERY-DREIFUSS MUSCULAR DYSTROPHY - X-LINKED EMD - MET1VAL 183 183 PRO HIS EMERY-DREIFUSS MUSCULAR DYSTROPHY - X-LINKED EMD - PRO183HIS 183 183 PRO THR EMERY-DREIFUSS MUSCULAR DYSTROPHY - X-LINKED EMD - PRO183THR 235 235 ALA PRO IMMUNODEFICIENCY WITH HYPER-IgM - TYPE 1 CD40LG - ALA235PRO 128 128 SER ARG IMMUNODEFICIENCY WITH HYPER-IgM - TYPE 1 CD40LG - SER128ARG AND GLU129GLY 129 129 GLU GLY IMMUNODEFICIENCY WITH HYPER-IgM - TYPE 1 CD40LG - SER128ARG AND GLU129GLY 227 227 GLY VAL IMMUNODEFICIENCY WITH HYPER-IgM - TYPE 1 CD40LG - GLY227VAL 155 155 LEU PRO IMMUNODEFICIENCY WITH HYPER-IgM - TYPE 1 CD40LG - LEU155PRO 211 211 THR ASP IMMUNODEFICIENCY WITH HYPER-IgM - TYPE 1 CD40LG - THR211ASP 36 36 MET ARG IMMUNODEFICIENCY WITH HYPER-IgM - TYPE 1 CD40LG - MET36ARG 140 140 TRP GLY IMMUNODEFICIENCY WITH HYPER-IgM - TYPE 1 CD40LG - TRP140GLY 123 123 ALA GLU IMMUNODEFICIENCY WITH HYPER-IgM - TYPE 1 CD40LG - ALA123GLU 51 51 THR ILE AMELOGENESIS IMPERFECTA - X-LINKED 1 AMELX - THR51ILE 70 70 PRO THR AMELOGENESIS IMPERFECTA - X-LINKED 1 AMELX - PRO70THR 1 1 MET THR AMELOGENESIS IMPERFECTA - X-LINKED 1 AMELX - MET1THR 4 4 TRP SER AMELOGENESIS IMPERFECTA - X-LINKED 1 AMELX - TRP4SER 86 86 ARG LEU WISKOTT-ALDRICH SYNDROME WAS - ARG86LEU 86 86 ARG HIS WISKOTT-ALDRICH SYNDROME WAS - ARG86HIS 56 56 ALA VAL THROMBOCYTOPENIA - X-LINKED - 1 WAS - ALA56VAL 236 236 ALA GLU THROMBOCYTOPENIA - X-LINKED - 1 WAS - ALA236GLU 82 82 SER PRO WISKOTT-ALDRICH SYNDROME - ATTENUATED WAS - SER82PRO 45 45 THR MET THROMBOCYTOPENIA - X-LINKED - 1 WAS - THR45MET 270 270 LEU PRO NEUTROPENIA - SEVERE CONGENITAL - X-LINKED WAS - LEU270PRO 58 58 PRO ARG THROMBOCYTOPENIA - X-LINKED - INTERMITTENT WAS - PRO58ARG 481 481 ILE ASN THROMBOCYTOPENIA - X-LINKED - INTERMITTENT WAS - ILE481ASN 197 197 GLY ARG NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM - FAMILIAL ISOLATED TAZ - GLY197ARG 118 118 CYS ARG BARTH SYNDROME TAZ - CYS118ARG 94 94 ARG SER BARTH SYNDROME TAZ - ARG94SER 215 216 PRO SER PELIZAEUS-MERZBACHER DISEASE PLP1 - PRO215SER 162 163 TRP ARG PELIZAEUS-MERZBACHER DISEASE PLP1 - TRP162ARG 14 15 PRO LEU PELIZAEUS-MERZBACHER DISEASE PLP1 - PRO14LEU 155 156 THR ILE PELIZAEUS-MERZBACHER DISEASE PLP1 - THR155ILE 218 219 VAL PHE PELIZAEUS-MERZBACHER DISEASE PLP1 - VAL218PHE 181 182 THR PRO PELIZAEUS-MERZBACHER DISEASE PLP1 - THR181PRO 223 224 LEU PRO PELIZAEUS-MERZBACHER DISEASE PLP1 - LEU223PRO 202 203 ASP HIS PELIZAEUS-MERZBACHER DISEASE PLP1 - ASP202HIS 73 74 GLY ARG PELIZAEUS-MERZBACHER DISEASE PLP1 - GLY73ARG 220 221 GLY CYS PELIZAEUS-MERZBACHER DISEASE - CONNATAL PLP1 - GLY220CYS 139 140 HIS TYR SPASTIC PARAPLEGIA 2 PLP1 - HIS139TYR 186 187 ILE THR SPASTIC PARAPLEGIA 2 PLP1 - ILE186THR 42 43 THR ILE PELIZAEUS-MERZBACHER DISEASE PLP1 - THR42ILE 1 1 MET ILE PELIZAEUS-MERZBACHER DISEASE - MILD PLP1 - MET1ILE 236 237 PHE SER SPASTIC PARAPLEGIA 2 PLP1 - PHE236SER 242 243 ALA VAL PELIZAEUS-MERZBACHER DISEASE - CONNATAL PLP1 - ALA242VAL 169 170 SER PHE SPASTIC PARAPLEGIA 2 PLP1 - SER169PHE 137 137 ARG TRP SPASTIC PARAPLEGIA 2 PLP1 - ARG137TRP 57 57 ASP TYR PELIZAEUS-MERZBACHER DISEASE PLP1 - ASP57TYR 99 99 CYS PHE BORJESON-FORSSMAN-LEHMANN SYNDROME PHF6 - CYS99PHE 234 234 LYS GLU BORJESON-FORSSMAN-LEHMANN SYNDROME PHF6 - LYS234GLU 45 45 CYS TYR BORJESON-FORSSMAN-LEHMANN SYNDROME PHF6 - CYS45TYR 229 229 HIS ARG BORJESON-FORSSMAN-LEHMANN SYNDROME PHF6 - HIS229ARG 1 1 MET TYR BORJESON-FORSSMAN-LEHMANN SYNDROME PHF6 - MET1TYR 257 257 ARG GLY BORJESON-FORSSMAN-LEHMANN SYNDROME PHF6 - ARG257GLY 207 207 ASN SER MYOTUBULAR MYOPATHY - X-LINKED MTM1 - ASN207SER 415 415 TYR CYS MYOTUBULAR MYOPATHY - X-LINKED MTM1 - TYR415CYS 69 69 ARG CYS MYOTUBULAR MYOPATHY - X-LINKED MTM1 - ARG69CYS 241 241 ARG CYS MYOTUBULAR MYOPATHY - X-LINKED MTM1 - ARG241CYS 157 157 GLU LYS MYOTUBULAR MYOPATHY - X-LINKED MTM1 - GLU157LYS 55 55 GLY ALA EPILEPTIC ENCEPHALOPATHY - EARLY INFANTILE - 8 ARHGEF9 - GLY55ALA 61 61 TYR HIS ECTODERMAL DYSPLASIA - X-LINKED EDA - TYR61HIS 69 69 ARG LEU ECTODERMAL DYSPLASIA - X-LINKED EDA - ARG69LEU 63 63 GLU LYS ECTODERMAL DYSPLASIA - X-LINKED EDA - GLU63LYS 155 155 ARG CYS ECTODERMAL DYSPLASIA - X-LINKED EDA - ARG155CYS 156 156 ARG CYS ECTODERMAL DYSPLASIA - X-LINKED EDA - ARG156CYS 156 156 ARG HIS ECTODERMAL DYSPLASIA - X-LINKED EDA - ARG156HIS 209 209 PRO LEU ECTODERMAL DYSPLASIA - X-LINKED EDA - PRO209LEU 224 224 GLY ALA ECTODERMAL DYSPLASIA - X-LINKED EDA - GLY224ALA 349 349 ALA THR ECTODERMAL DYSPLASIA - X-LINKED EDA - ALA349THR 65 65 ARG GLY TOOTH AGENESIS - SELECTIVE - X-LINKED - 1 EDA - ARG65GLY 358 358 GLN GLU TOOTH AGENESIS - SELECTIVE - X-LINKED - 1 EDA - GLN358GLU 338 338 THR MET TOOTH AGENESIS - SELECTIVE - X-LINKED - 1 EDA - THR338MET 441 441 VAL GLU EPILEPTIC ENCEPHALOPATHY - EARLY INFANTILE - 9 PCDH19 - VAL441GLU 557 557 ASN LYS EPILEPTIC ENCEPHALOPATHY - EARLY INFANTILE - 9 PCDH19 - ASN557LYS 109 109 ARG GLN ORNITHINE TRANSCARBAMYLASE DEFICIENCY OTC - ARG109GLN 111 111 LEU PRO ORNITHINE TRANSCARBAMYLASE DEFICIENCY OTC - LEU111PRO 216 216 GLN GLU ORNITHINE TRANSCARBAMYLASE DEFICIENCY OTC - GLN216GLU 45 45 LEU PRO ORNITHINE TRANSCARBAMYLASE DEFICIENCY OTC - LEU45PRO 26 26 ARG GLN ORNITHINE TRANSCARBAMYLASE DEFICIENCY OTC - ARG26GLN 46 46 LYS ARG ORNITHINE TRANSCARBAMYLASE POLYMORPHISM OTC - LYS46ARG 245 245 ARG TRP ORNITHINE TRANSCARBAMYLASE DEFICIENCY OTC - ARG245TRP 277 277 ARG TRP ORNITHINE TRANSCARBAMYLASE DEFICIENCY OTC - ARG277TRP 225 225 PRO LEU ORNITHINE TRANSCARBAMYLASE DEFICIENCY OTC - PRO225LEU 87 87 GLU LYS ORNITHINE TRANSCARBAMYLASE DEFICIENCY OTC - GLU87LYS 162 162 GLY ARG ORNITHINE TRANSCARBAMYLASE DEFICIENCY OTC - GLY162ARG 47 47 GLY GLU ORNITHINE TRANSCARBAMYLASE DEFICIENCY OTC - GLY47GLU 62 62 ARG THR ORNITHINE TRANSCARBAMYLASE DEFICIENCY OTC - ARG62THR 272 272 LEU PHE ORNITHINE TRANSCARBAMYLASE DEFICIENCY OTC - LEU272PHE 313 313 TYR ASP ORNITHINE TRANSCARBAMYLASE DEFICIENCY OTC - TYR313ASP 129 129 ARG HIS ORNITHINE TRANSCARBAMYLASE DEFICIENCY OTC - ARG129HIS 148 148 LEU PHE ORNITHINE TRANSCARBAMYLASE DEFICIENCY OTC - LEU148PHE 206 206 MET ARG ORNITHINE TRANSCARBAMYLASE DEFICIENCY OTC - MET206ARG 40 40 ARG CYS ORNITHINE TRANSCARBAMYLASE DEFICIENCY OTC - ARG40CYS 40 40 ARG HIS ORNITHINE TRANSCARBAMYLASE DEFICIENCY OTC - ARG40HIS 65 65 TYR CYS GOLABI-ITO-HALL SYNDROME PQBP1 - TYR65CYS 267 267 ARG PRO ADRENAL HYPOPLASIA - CONGENITAL NR0B1 - ARG267PRO 440 440 ASN ILE ADRENAL HYPOPLASIA - CONGENITAL NR0B1 - ASN440ILE 382 382 LYS ASN ADRENAL HYPOPLASIA - CONGENITAL NR0B1 - LYS382ASN 291 291 TRP CYS ADRENAL HYPOPLASIA - CONGENITAL NR0B1 - TRP291CYS 439 439 ILE SER ADRENAL HYPOPLASIA - CONGENITAL NR0B1 - ILE439SER 381 381 LEU HIS ADRENAL HYPOPLASIA - CONGENITAL NR0B1 - LEU381HIS 380 380 TYR ASP ADRENAL HYPOPLASIA - CONGENITAL NR0B1 - TYR380ASP 297 297 LEU PRO ADRENAL HYPOPLASIA - CONGENITAL NR0B1 - LEU297PRO 105 105 TRP CYS MINERALOCORTICOID DEFICIENCY - ISOLATED NR0B1 - TRP105CYS 440 446 ASP VAL GLYCEROL KINASE DEFICIENCY - ISOLATED GK - ASP440VAL 503 509 TRP ARG GLYCEROL KINASE DEFICIENCY - ISOLATED GK - TRP503ARG 288 294 ASN ASP HYPERGLYCEROLEMIA GK - ASN288ASP 415 415 PRO HIS GRANULOMATOUS DISEASE - CHRONIC - X-LINKED - VARIANT CYBB - PRO415HIS 389 389 GLY ALA GRANULOMATOUS DISEASE - CHRONIC - X-LINKED - VARIANT CYBB - GLY389ALA 209 209 HIS TYR GRANULOMATOUS DISEASE - CHRONIC - X-LINKED CYBB - HIS209TYR 244 244 CYS SER GRANULOMATOUS DISEASE - CHRONIC - X-LINKED - VARIANT CYBB - CYS244SER 156 156 ALA THR GRANULOMATOUS DISEASE - CHRONIC - X-LINKED - VARIANT CYBB - ALA156THR 101 101 HIS ARG GRANULOMATOUS DISEASE - CHRONIC - X-LINKED - VARIANT CYBB - HIS101ARG 500 500 ASP GLY GRANULOMATOUS DISEASE - CHRONIC - X-LINKED CYBB - ASP500GLY 101 101 HIS TYR GRANULOMATOUS DISEASE - CHRONIC - X-LINKED - VARIANT CYBB - HIS101TYR 303 303 HIS ASN GRANULOMATOUS DISEASE - CHRONIC - X-LINKED - VARIANT CYBB - HIS303ASN 304 304 PRO ARG GRANULOMATOUS DISEASE - CHRONIC - X-LINKED CYBB - PRO304ARG 85 85 PRO LEU MICROPHTHALMIA - SYNDROMIC 2 BCOR - PRO85LEU 32 32 ARG THR LYMPHOPROLIFERATIVE SYNDROME - X-LINKED - 1 SH2D1A - ARG32THR 101 101 PRO LEU LYMPHOPROLIFERATIVE SYNDROME - X-LINKED - 1 SH2D1A - PRO101LEU 68 68 THR ILE LYMPHOPROLIFERATIVE SYNDROME - X-LINKED - 1 SH2D1A - THR68ILE 1 1 MET ILE LYMPHOPROLIFERATIVE SYNDROME - X-LINKED - 1 SH2D1A - MET1ILE 55 55 ARG LEU LYMPHOPROLIFERATIVE SYNDROME - X-LINKED - 1 SH2D1A - ARG55LEU 378 378 ARG HIS PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY PDHA1 - ARG378HIS 234 234 ARG GLY PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY PDHA1 - ARG234GLY 302 302 ARG CYS PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY PDHA1 - ARG302CYS 258 258 ASP ALA LEIGH SYNDROME - X-LINKED PDHA1 - ASP258ALA 205 205 PHE LEU PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY PDHA1 - PHE205LEU 243 243 TYR ASN PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY PDHA1 - TYR243ASN 315 315 ASP ASN PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY PDHA1 - ASP315ASN 282 282 MET LEU PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY PDHA1 - MET282LEU 10 10 ARG PRO PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY PDHA1 - ARG10PRO 288 288 ARG HIS PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY PDHA1 - ARG288HIS 263 263 ARG GLY LEIGH SYNDROME - X-LINKED PDHA1 - ARG263GLY 216 216 LEU PHE PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY PDHA1 - LEU216PHE 863 853 ARG TRP MENTAL RETARDATION - X-LINKED 1 IQSEC2 - ARG863TRP 801 791 GLN PRO MENTAL RETARDATION - X-LINKED 18 IQSEC2 - GLN801PRO 758 748 ARG GLN MENTAL RETARDATION - X-LINKED 1 IQSEC2 - ARG758GLN 359 349 ARG CYS MENTAL RETARDATION - X-LINKED 1 IQSEC2 - ARG359CYS 577 577 ARG GLN LOWE OCULOCEREBRORENAL SYNDROME OCRL - ARG577GLN 601 601 HIS GLN LOWE OCULOCEREBRORENAL SYNDROME OCRL - HIS601GLN 462 462 TYR CYS DENT DISEASE 2 OCRL - TYR462CYS 301 301 ARG CYS DENT DISEASE 2 OCRL - ARG301CYS 132 132 ALA ASP DIABETES INSIPIDUS - NEPHROGENIC - X-LINKED AVPR2 - ALA132ASP 185 185 GLY CYS DIABETES INSIPIDUS - NEPHROGENIC - X-LINKED AVPR2 - GLY185CYS 205 205 TYR CYS DIABETES INSIPIDUS - NEPHROGENIC - X-LINKED AVPR2 - TYR205CYS 203 203 ARG CYS DIABETES INSIPIDUS - NEPHROGENIC - X-LINKED AVPR2 - ARG203CYS 113 113 ARG TRP DIABETES INSIPIDUS - NEPHROGENIC - X-LINKED AVPR2 - ARG113TRP 280 280 TYR CYS DIABETES INSIPIDUS - NEPHROGENIC - X-LINKED AVPR2 - TYR280CYS 85 85 ASP ASN DIABETES INSIPIDUS - NEPHROGENIC - X-LINKED AVPR2 - ASP85ASN 201 201 GLY ASP DIABETES INSIPIDUS - NEPHROGENIC - X-LINKED AVPR2 - GLY201ASP 137 137 ARG HIS DIABETES INSIPIDUS - NEPHROGENIC - X-LINKED AVPR2 - ARG137HIS 181 181 ARG CYS DIABETES INSIPIDUS - NEPHROGENIC - X-LINKED AVPR2 - ARG181CYS 105 105 PHE VAL DIABETES INSIPIDUS - NEPHROGENIC - X-LINKED AVPR2 - PHE105VAL 46 46 ILE LYS DIABETES INSIPIDUS - NEPHROGENIC - X-LINKED AVPR2 - ILE46LYS 104 104 ARG CYS DIABETES INSIPIDUS - NEPHROGENIC - X-LINKED AVPR2 - ARG104CYS 137 137 ARG CYS NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS AVPR2 - ARG137CYS 137 137 ARG LEU NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS AVPR2 - ARG137LEU 610 610 ARG GLN FACIOGENITAL DYSPLASIA FGD1 - ARG610GLN 522 522 ARG HIS FACIOGENITAL DYSPLASIA FGD1 - ARG522HIS 312 312 PRO LEU MENTAL RETARDATION - X-LINKED - SYNDROMIC 16 FGD1 - PRO312LEU 408 408 ARG GLN FACIOGENITAL DYSPLASIA WITH ATTENTION DEFICIT-HYPERACTIVITY DISORDER FGD1 - ARG408GLN 433 433 ARG LEU FACIOGENITAL DYSPLASIA WITH ATTENTION DEFICIT-HYPERACTIVITY DISORDER FGD1 - ARG433LEU 466 466 MET VAL FACIOGENITAL DYSPLASIA FGD1 - MET466VAL 82 82 CYS TYR HYPOPHOSPHATEMIC RICKETS - X-LINKED DOMINANT PHEX - CYS82TYR 249 249 PHE SER HYPOPHOSPHATEMIC RICKETS - X-LINKED DOMINANT PHEX - PHE249SER AND MET250ILE 250 250 MET ILE HYPOPHOSPHATEMIC RICKETS - X-LINKED DOMINANT PHEX - PHE249SER AND MET250ILE 555 555 LEU PRO HYPOPHOSPHATEMIC RICKETS - X-LINKED DOMINANT PHEX - LEU555PRO 626 626 LEU PRO OPITZ SYNDROME - X-LINKED MID1 - LEU626PRO 295 295 LEU PRO OPITZ SYNDROME - X-LINKED MID1 - LEU295PRO 1596 1596 LYS GLU MENTAL RETARDATION - X-LINKED 93 BRWD3 - LYS1596GLU 107 107 ASP ASP MENTAL RETARDATION - X-LINKED - WITH EPILEPSY ATP6AP2 - ASP107ASP 279 279 PHE SER SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME PHF8 - PHE279SER 1089 1089 SER LEU STOCCO DOS SANTOS X-LINKED MENTAL RETARDATION SYNDROME SHROOM4 - SER1089LEU 329 329 ARG GLN PREMATURE OVARIAN FAILURE 2B POF1B - ARG329GLN 131 131 ASP GLU Tn SYNDROME C1GALT1C1 - ASP131GLU 152 152 GLU LYS Tn SYNDROME C1GALT1C1 - GLU152LYS 84 84 VAL VAL NYSTAGMUS 1 - CONGENITAL - X-LINKED FRMD7 - VAL84VAL 24 24 GLY ARG NYSTAGMUS 1 - CONGENITAL - X-LINKED FRMD7 - GLY24ARG 142 142 LEU ARG NYSTAGMUS 1 - CONGENITAL - X-LINKED FRMD7 - LEU142ARG 229 229 ARG GLY NYSTAGMUS 1 - CONGENITAL - X-LINKED FRMD7 - ARG229GLY 327 327 ASN SER ROLANDIC EPILEPSY - MENTAL RETARDATION - AND SPEECH DYSPRAXIA - X-LINKED SRPX2 - ASN327SER 72 72 TYR SER ROLANDIC EPILEPSY - MENTAL RETARDATION - AND SPEECH DYSPRAXIA - X-LINKED SRPX2 - TYR72SER 356 356 ARG TRP FABRY DISEASE GLA - ARG356TRP 301 301 ARG GLN FABRY DISEASE - CARDIAC VARIANT FABRY DISEASE - INCLUDED GLA - ARG301GLN 296 296 MET VAL FABRY DISEASE - CARDIAC VARIANT GLA - MET296VAL 279 279 GLN GLU FABRY DISEASE - CARDIAC VARIANT GLA - GLN279GLU 40 40 PRO SER FABRY DISEASE GLA - PRO40SER 328 328 GLY ARG FABRY DISEASE GLA - GLY328ARG 112 112 ARG CYS FABRY DISEASE GLA - GLU66GLN AND ARG112CYS 66 66 GLU GLN FABRY DISEASE GLA - GLU66GLN AND ARG112CYS 34 34 ASN SER FABRY DISEASE GLA - ASN34SER 56 56 CYS GLY FABRY DISEASE GLA - CYS56GLY 146 146 PRO SER FABRY DISEASE GLA - PRO146SER 156 156 ALA THR FABRY DISEASE GLA - ALA156THR 162 162 TRP ARG FABRY DISEASE GLA - TRP162ARG 202 202 CYS TRP FABRY DISEASE GLA - CYS202TRP 215 215 ASN SER FABRY DISEASE GLA - ASN215SER 227 227 ARG GLN FABRY DISEASE GLA - ARG227GLN 264 264 ASP VAL FABRY DISEASE GLA - ASP264VAL 266 266 ASP VAL FABRY DISEASE GLA - ASP266VAL 269 269 VAL ALA FABRY DISEASE GLA - VAL269ALA 297 297 SER PHE FABRY DISEASE GLA - SER297PHE 313 313 ASP TYR RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE GLA - ASP313TYR 327 327 GLN LYS FABRY DISEASE GLA - GLN327LYS 328 328 GLY ALA FABRY DISEASE GLA - GLY328ALA 342 342 ARG GLN FABRY DISEASE GLA - ARG342GLN 361 361 GLY ARG FABRY DISEASE GLA - GLY361ARG 143 143 ALA THR FABRY DISEASE GLA - ALA143THR 296 296 MET ILE FABRY DISEASE - CARDIAC VARIANT GLA - MET296ILE 20 20 ALA PRO FABRY DISEASE - CARDIAC VARIANT GLA - ALA20PRO 65 65 SER THR FABRY DISEASE GLA - SER65THR 143 143 ALA PRO FABRY DISEASE GLA - ALA143PRO 410 410 THR ALA FABRY DISEASE GLA - THR410ALA 272 272 ASN SER FABRY DISEASE GLA - ASN272SER 148 148 ARG TRP MENTAL RETARDATION - X-LINKED - SYNDROMIC - ZDHHC9-RELATED ZDHHC9 - ARG148TRP 150 150 PRO SER MENTAL RETARDATION - X-LINKED - SYNDROMIC - ZDHHC9-RELATED ZDHHC9 - PRO150SER 60 60 GLY ARG FOCAL DERMAL HYPOPLASIA PORCN - 178G-A - GLY60ARG 90 90 ARG PRO NORRIE DISEASE NDP - ARG90PRO 75 75 SER CYS NORRIE DISEASE NDP - SER75CYS 60 60 VAL GLU NORRIE DISEASE NDP - VAL60GLU 44 44 TYR CYS NORRIE DISEASE NDP - TYR44CYS 96 96 CYS TYR NORRIE DISEASE NDP - CYS96TYR 124 124 LEU PHE EXUDATIVE VITREORETINOPATHY 2 - X-LINKED NDP - LEU124PHE 69 69 CYS SER NORRIE DISEASE NDP - CYS69SER 1 1 MET VAL NORRIE DISEASE NDP - MET1VAL 121 121 ARG TRP EXUDATIVE VITREORETINOPATHY 2 - X-LINKED NDP - ARG121TRP 13 13 LEU ARG NORRIE DISEASE NDP - LEU13ARG 61 61 LEU PHE NORRIE DISEASE NDP - LEU61PHE 42 42 HIS ARG EXUDATIVE VITREORETINOPATHY - X-LINKED NDP - HIS42ARG 105 105 ALA THR NORRIE DISEASE NDP - ALA105THR 110 110 CYS GLY EXUDATIVE VITREORETINOPATHY 2 - X-LINKED NDP - CYS110GLY 121 121 ARG LEU EXUDATIVE VITREORETINOPATHY 2 - X-LINKED NDP - ARG121LEU 96 96 CYS TRP NORRIE DISEASE NDP - CYS96TRP 45 45 VAL GLU NORRIE DISEASE NDP - VAL45GLU 101 101 SER PHE NORRIE DISEASE NDP - SER101PHE 4013 4013 ARG TRP MENTAL RETARDATION - X-LINKED - SYNDROMIC - TURNER TYPE HUWE1 - ARG4013TRP 2981 2981 ARG HIS MENTAL RETARDATION - X-LINKED - SYNDROMIC - TURNER TYPE HUWE1 - ARG2981HIS 4187 4187 ARG CYS MENTAL RETARDATION - X-LINKED - SYNDROMIC - TURNER TYPE HUWE1 - ARG4187CYS 311 311 VAL GLY MENTAL RETARDATION - X-LINKED 95 MAGT1 - VAL311GLY 7 53 GLU ASP HEMOPHILIA B F9 - GLU7ASP 18 64 CYS ARG HEMOPHILIA B F9 - CYS18ARG 27 73 GLU LYS HEMOPHILIA B F9 - GLU27LYS 27 73 GLU VAL HEMOPHILIA B F9 - GLU27VAL 29 75 ARG GLN HEMOPHILIA B F9 - ARG29GLN 33 79 GLU ASP HEMOPHILIA B F9 - GLU33ASP 47 93 ASP GLY HEMOPHILIA B F9 - ASP47GLY 50 96 GLN PRO HEMOPHILIA B F9 - GLN50PRO 55 101 PRO ALA HEMOPHILIA B F9 - PRO55ALA 60 106 GLY SER HEMOPHILIA B F9 - GLY60SER 64 110 ASP GLY HEMOPHILIA B F9 - ASP64GLY 114 160 GLY ALA HEMOPHILIA B F9 - GLY114ALA 120 166 ASN TYR HEMOPHILIA B F9 - ASN120TYR 145 191 ARG CYS HEMOPHILIA B F9 - ARG145CYS 145 191 ARG HIS HEMOPHILIA B F9 - ARG145HIS 148 194 THR ALA DEEP VENOUS THROMBOSIS - PROTECTION AGAINST F9 - THR148ALA 180 226 ARG TRP HEMOPHILIA B F9 - ARG180TRP 180 226 ARG GLN HEMOPHILIA B(M) F9 - ARG180GLN 181 227 VAL PHE HEMOPHILIA B F9 - VAL181PHE 182 228 VAL PHE HEMOPHILIA B F9 - VAL182PHE 182 228 VAL LEU HEMOPHILIA B(M) F9 - VAL182LEU 191 237 GLN LEU HEMOPHILIA B F9 - GLN191LEU 222 268 CYS TRP HEMOPHILIA B F9 - CYS222TRP 227 273 VAL VAL FACTOR IX - DNA POLYMORPHISM F9 - VAL227VAL 233 279 ALA THR HEMOPHILIA B F9 - ALA233THR 248 294 ARG GLN HEMOPHILIA B F9 - ARG248GLN 260 306 ASN SER HEMOPHILIA B F9 - ASN260SER 287 333 PRO LEU HEMOPHILIA B F9 - PRO287LEU 291 337 ALA PRO HEMOPHILIA B F9 - ALA291PRO 296 342 THR MET HEMOPHILIA B F9 - THR296MET 307 353 VAL ALA HEMOPHILIA B F9 - VAL307ALA 309 355 GLY VAL HEMOPHILIA B F9 - GLY309VAL 311 357 GLY ARG HEMOPHILIA B F9 - GLY311ARG 333 379 ARG GLN HEMOPHILIA B F9 - ARG333GLN 336 382 CYS ARG HEMOPHILIA B F9 - CYS336ARG 348 394 MET VAL HEMOPHILIA B F9 - MET348VAL 360 406 SER LEU HEMOPHILIA B F9 - SER360LEU 363 409 GLY VAL HEMOPHILIA B F9 - GLY363VAL 367 413 GLY ARG HEMOPHILIA B F9 - GLY367ARG 368 414 PRO THR HEMOPHILIA B F9 - PRO368THR 378 424 PHE LEU HEMOPHILIA B F9 - PHE378LEU 390 436 ALA GLU HEMOPHILIA B F9 - ALA390GLU 390 436 ALA VAL HEMOPHILIA B F9 - ALA390VAL 396 442 GLY ARG HEMOPHILIA B F9 - GLY396ARG 397 443 ILE THR HEMOPHILIA B F9 - ILE397THR 407 453 TRP ARG HEMOPHILIA B F9 - TRP407ARG 328 374 VAL PHE HEMOPHILIA B F9 - VAL328PHE 257 303 HIS TYR FACTOR IX POLYMORPHISM F9 - HIS257TYR 350 396 CYS SER HEMOPHILIA B F9 - CYS350SER 64 110 ASP ASN HEMOPHILIA B F9 - ASP64ASN 311 357 GLY GLU HEMOPHILIA B F9 - GLY311GLU 365 411 SER ILE HEMOPHILIA B F9 - SER365ILE 365 411 SER GLY HEMOPHILIA B F9 - SER365GLY 364 410 ASP HIS HEMOPHILIA B F9 - ASP364HIS 245 291 GLU VAL HEMOPHILIA B F9 - GLU245VAL 373 419 VAL GLU HEMOPHILIA B F9 - VAL373GLU 351 397 ALA PRO HEMOPHILIA B F9 - ALA351PRO 344 390 ILE THR HEMOPHILIA B F9 - ILE344THR 206 252 CYS SER HEMOPHILIA B F9 - CYS206SER 338 384 ARG PRO HEMOPHILIA B F9 - ARG338PRO 338 384 ARG LEU THROMBOPHILIA - X-LINKED - DUE TO FACTOR IX DEFECT F9 - ARG338LEU 372 372 TRP ARG ICHTHYOSIS - X-LINKED STS - TRP372ARG 446 446 CYS TYR ICHTHYOSIS - X-LINKED STS - CYS446TYR 341 341 SER LEU ICHTHYOSIS - X-LINKED STS - SER341LEU 372 372 TRP PRO ICHTHYOSIS - X-LINKED STS - TRP372PRO 444 444 HIS ARG ICHTHYOSIS - X-LINKED STS - HIS444ARG 118 118 ARG HIS RETINITIS PIGMENTOSA 2 RP2 - ARG118HIS 118 118 ARG LEU RETINITIS PIGMENTOSA 2 RP2 - ARG118LEU 1205 1205 PRO LEU GLYCOGEN STORAGE DISEASE - TYPE IXa1 PHKA2 - PRO1205LEU 299 299 ASP GLY GLYCOGEN STORAGE DISEASE - TYPE IXa1 PHKA2 - ASP299GLY 186 186 ARG HIS GLYCOGEN STORAGE DISEASE - TYPE IXa2 PHKA2 - ARG186HIS 132 132 HIS PRO GLYCOGEN STORAGE DISEASE - TYPE IXa2 PHKA2 - HIS132PRO 132 132 HIS TYR GLYCOGEN STORAGE DISEASE - TYPE IXa2 PHKA2 - HIS132TYR 1114 1114 THR ILE GLYCOGEN STORAGE DISEASE - TYPE IXa2 PHKA2 - THR1114ILE 556 556 ARG CYS GLYCOGEN STORAGE DISEASE - TYPE IXa2 PHKA2 - ARG556CYS 189 189 LYS GLU GLYCOGEN STORAGE DISEASE - TYPE IXa2 PHKA2 - LYS189GLU 133 133 TRP ARG ALBINISM - OCULAR - TYPE I GPR143 - TRP133ARG 152 152 SER ASN ALBINISM - OCULAR - TYPE I GPR143 - SER152ASN 232 232 THR LYS ALBINISM - OCULAR - TYPE I GPR143 - THR232LYS 133 133 TRP ARG ALBINISM - OCULAR - TYPE I GPR143 - TRP133ARG 35 35 GLY ASP ALBINISM - OCULAR - TYPE I GPR143 - GLY35ASP 89 89 SER PHE NYSTAGMUS - 6 - CONGENITAL - X-LINKED GPR143 - SER89PHE 203 203 CYS ARG DEUTERANOMALY COLORBLINDNESS - DEUTAN OPN1MW - CYS203ARG 203 203 CYS ARG BLUE CONE MONOCHROMACY OPN1MW AND OPN1LW - CYS203ARG 94 94 ASN LYS COLORBLINDNESS - DEUTAN OPN1MW - ASN94LYS 330 330 ARG GLN COLORBLINDNESS - DEUTAN OPN1MW - ARG330GLN 177 177 TRP ARG CONE DYSTROPHY 5 - X-LINKED OPN1MW - TRP177ARG 180 180 SER ALA RED CONE POLYMORPHISM OPN1LW - SER180ALA 203 203 CYS ARG BLUE CONE MONOCHROMACY OPN1LW AND OPN1MW - CYS203ARG 338 338 GLY GLU COLORBLINDNESS - PROTAN RCP - GLY338GLU 333 333 SER LEU MUCOPOLYSACCHARIDOSIS TYPE II IDS - SER333LEU 502 502 TRP SER MUCOPOLYSACCHARIDOSIS TYPE II IDS - TRP502SER 160 160 PRO ARG MUCOPOLYSACCHARIDOSIS TYPE II IDS - PRO160ARG 422 422 CYS GLY MUCOPOLYSACCHARIDOSIS TYPE II IDS - CYS422GLY 135 135 LYS ARG MUCOPOLYSACCHARIDOSIS TYPE II IDS - LYS135ARG 468 468 ARG TRP MUCOPOLYSACCHARIDOSIS TYPE II - MILD FORM IDS - ARG468TRP 468 468 ARG GLN MUCOPOLYSACCHARIDOSIS TYPE II - SEVERE FORM IDS - ARG468GLN 468 468 ARG LEU MUCOPOLYSACCHARIDOSIS TYPE II - SEVERE FORM IDS - ARG468LEU 488 488 MET ILE MUCOPOLYSACCHARIDOSIS TYPE II IDS - GLY489ALA - MET488ILE 489 489 GLY ALA MUCOPOLYSACCHARIDOSIS TYPE II IDS - GLY489ALA - MET488ILE 471 471 ILE ASN ANEMIA - HEREDITARY SIDEROBLASTIC ALAS2 - ILE471ASN 388 388 THR SER ANEMIA - HEREDITARY SIDEROBLASTIC ALAS2 - THR388SER 165 165 PHE LEU ANEMIA - HEREDITARY SIDEROBLASTIC ALAS2 - PHE165LEU 291 291 GLY SER ANEMIA - HEREDITARY SIDEROBLASTIC ALAS2 - GLY291SER 299 299 LYS GLN ANEMIA - HEREDITARY SIDEROBLASTIC - LATE-ONSET ALAS2 - LYS299GLN 172 172 ALA THR ANEMIA - HEREDITARY SIDEROBLASTIC - LATE-ONSET ALAS2 - ALA172THR 190 190 ASP VAL ANEMIA - HEREDITARY SIDEROBLASTIC - PYRIDOXINE REFRACTORY ALAS2 - ASP190VAL 411 411 ARG CYS ANEMIA - HEREDITARY SIDEROBLASTIC ALAS2 - ARG411CYS 568 568 SER GLY ANEMIA - HEREDITARY SIDEROBLASTIC ALAS2 - SER568GLY 395 395 CYS TYR ANEMIA - HEREDITARY SIDEROBLASTIC ALAS2 - CYS395TYR 159 159 ASP TYR ANEMIA - HEREDITARY SIDEROBLASTIC ALAS2 - ASP159TYR 159 159 ASP ASN ANEMIA - HEREDITARY SIDEROBLASTIC ALAS2 - ASP159ASN 524 524 HIS ASP ANEMIA - HEREDITARY SIDEROBLASTIC ALAS2 - HIS524ASP 199 199 TYR HIS ANEMIA - HEREDITARY SIDEROBLASTIC ALAS2 - TYR199HIS 452 452 ARG CYS ANEMIA - HEREDITARY SIDEROBLASTIC ALAS2 - ARG452CYS 108 108 CYS SER ALPORT SYNDROME - X-LINKED COL4A5 - CYS108SER 1143 1143 GLY ASP ALPORT SYNDROME - X-LINKED COL4A5 - GLY1143ASP 325 325 GLY ARG ALPORT SYNDROME - X-LINKED COL4A5 - GLY325ARG 1538 1538 TRP SER ALPORT SYNDROME - X-LINKED COL4A5 - TRP1538SER 521 521 GLY CYS ALPORT SYNDROME - X-LINKED COL4A5 - GLY521CYS 325 325 GLY GLU ALPORT SYNDROME - X-LINKED COL4A5 - GLY325GLU 289 289 GLY VAL ALPORT SYNDROME - X-LINKED COL4A5 - GLY289VAL AND ARG1421CYS 1421 1421 ARG CYS ALPORT SYNDROME - X-LINKED COL4A5 - GLY289VAL AND ARG1421CYS 54 54 GLY ASP ALPORT SYNDROME - X-LINKED COL4A5 - GLY54ASP 1649 1649 LEU ARG ALPORT SYNDROME - X-LINKED COL4A5 - LEU1649ARG 1677 1677 ARG GLN ALPORT SYNDROME - X-LINKED COL4A5 - ARG1677GLN 142 142 ARG TRP CHARCOT-MARIE-TOOTH DISEASE - X-LINKED DOMINANT GJB1 - ARG142TRP 172 172 PRO SER CHARCOT-MARIE-TOOTH DISEASE - X-LINKED DOMINANT GJB1 - PRO172SER 139 139 VAL MET CHARCOT-MARIE-TOOTH DISEASE - X-LINKED DOMINANT GJB1 - VAL139MET 133 133 TRP ARG CHARCOT-MARIE-TOOTH DISEASE - X-LINKED DOMINANT GJB1 - TRP133ARG 30 30 ILE ASN CHARCOT-MARIE-TOOTH DISEASE - X-LINKED DOMINANT GJB1 - ILE30ASN 156 156 LEU ARG CHARCOT-MARIE-TOOTH DISEASE - X-LINKED DOMINANT GJB1 - LEU156ARG 65 65 TYR CYS CHARCOT-MARIE-TOOTH DISEASE - X-LINKED DOMINANT GJB1 - TYR65CYS 13 13 VAL LEU CHARCOT-MARIE-TOOTH DISEASE - X-LINKED DOMINANT GJB1 - VAL13LEU 95 95 VAL MET CHARCOT-MARIE-TOOTH DISEASE - X-LINKED DOMINANT GJB1 - VAL95MET 205 205 ASN SER CHARCOT-MARIE-TOOTH DISEASE - X-LINKED DOMINANT GJB1 - ASN205SER 85 85 SER CYS CHARCOT-MARIE-TOOTH DISEASE - X-LINKED DOMINANT GJB1 - SER85CYS 55 55 THR ILE CHARCOT-MARIE-TOOTH DISEASE - X-LINKED DOMINANT GJB1 - THR55ILE 235 235 PHE CYS CHARCOT-MARIE-TOOTH DISEASE - X-LINKED DOMINANT GJB1 - PHE235CYS 136 136 VAL ALA CHARCOT-MARIE-TOOTH DISEASE - X-LINKED DOMINANT DEJERINE-SOTTAS NEUROPATHY - INCLUDED GJB1 - VAL136ALA 205 205 VAL MET DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA GATA1 - VAL205MET 218 218 ASP GLY MACROTHROMBOCYTOPENIA - X-LINKED GATA1 - ASP218GLY 208 208 GLY SER MACROTHROMBOCYTOPENIA - X-LINKED GATA1 - GLY208SER 218 218 ASP TYR MACROTHROMBOCYTOPENIA - X-LINKED GATA1 - ASP218TYR 216 216 ARG GLN THROMBOCYTOPENIA - PLATELET DYSFUNCTION - HEMOLYSIS - AND IMBALANCED GLOBIN SYNTHESIS GATA1 - ARG216GLN 126 126 ASN ASP G6PD A+ G6PD - ASN126ASP 68 68 VAL MET G6PD A- G6PD MATERA;; G6PD BETICA;; G6PD CASTILLA;; G6PD DISTRITO FEDERAL;; G6PD TEPIC G6PD - VAL68MET - ASN126ASP 126 126 ASN ASP G6PD A- G6PD MATERA;; G6PD BETICA;; G6PD CASTILLA;; G6PD DISTRITO FEDERAL;; G6PD TEPIC G6PD - VAL68MET - ASN126ASP 335 335 ALA THR G6PD CHATHAM G6PD - ALA335THR 156 156 GLU LYS G6PD ILESHA G6PD - GLU156LYS 163 163 GLY SER G6PD MAHIDOL G6PD - GLY163SER 188 188 SER PHE G6PD MEDITERRANEAN G6PD SASSARI;; G6PD CAGLIARI G6PD - SER188PHE 58 58 ASP ASN G6PD METAPONTO G6PD - ASP58ASN 393 393 ARG HIS G6PD PORTICI G6PD - ARG393HIS 447 447 GLY ARG G6PD SANTIAGO DE CUBA G6PD - GLY447ARG 282 282 ASP HIS G6PD SEATTLE-LIKE G6PD MODENA G6PD - ASP282HIS 216 216 PHE LEU G6PD HARILAOU G6PD - PHE216LEU 386 386 LYS GLU G6PD IOWA G6PD IOWA CITY;; G6PD SPRINGFIELD;; G6PD WALTER REED G6PD - LYS386GLU 387 387 ARG HIS G6PD BEVERLY HILLS G6PD - ARG387HIS 385 385 CYS ARG G6PD TOMAH G6PD - CYS385ARG 410 410 GLY CYS G6PD RIVERSIDE G6PD - GLY410CYS 285 285 ARG HIS G6PD MONTALBANO G6PD - ARG285HIS 454 454 ARG HIS G6PD ANDALUS G6PD - ARG454HIS 459 459 ARG LEU G6PD CANTON G6PD GIFU;; G6PD AGRIGENTO;; G6PD TAIWAN-HAKKA G6PD - ARG459LEU 398 398 GLU LYS G6PD PUERTO LIMON G6PD - GLU398LYS 126 126 ASN ASP G6PD SANTAMARIA G6PD - ASP181VAL - ASN126ASP 181 181 ASP VAL G6PD SANTAMARIA G6PD - ASP181VAL - ASN126ASP 213 213 VAL LEU G6PD GASTONIA G6PD MARION;; G6PD MINNESOTA G6PD - VAL213LEU 393 393 ARG HIS G6PD NASHVILLE G6PD ANAHEIM G6PD - ARG393HIS 291 291 VAL MET G6PD VIANGCHAN G6PD JAMMU G6PD - VAL291MET 227 227 ARG LEU G6PD A- G6PD - ARG227LEU 323 323 LEU PRO G6PD A- G6PD - LEU323PRO 463 463 ARG HIS G6PD KAIPING G6PD ANANT;; G6PD DHON;; G6PD PETRICH-LIKE;; G6PD SAPPORO-LIKE G6PD - ARG463HIS 363 363 ASN LYS G6PD LOMA LINDA G6PD - ASN363LYS 198 198 ARG CYS G6PD COIMBRA G6PD - ARG198CYS 106 106 SER CYS CHRONIC GRANULOMA AND HEMOLYTIC ANEMIA G6PD - SER106CYS - ARG182TRP - ARG198CYS 198 198 ARG CYS CHRONIC GRANULOMA AND HEMOLYTIC ANEMIA G6PD - SER106CYS - ARG182TRP - ARG198CYS 182 182 ARG TRP CHRONIC GRANULOMA AND HEMOLYTIC ANEMIA G6PD - SER106CYS - ARG182TRP - ARG198CYS 165 165 ASN ASP G6PD TAIWAN-HAKKA 2 G6PD - ASN165ASP 198 198 ARG PRO G6PD SANTIAGO ANEMIA - NONSPHEROCYTIC HEMOLYTIC - DUE TO G6PD DEFICIENCY G6PD - ARG198PRO 227 227 ARG GLN G6PD MEXICO CITY G6PD - ARG227GLN 353 353 PRO SER G6PD IERAPETRA G6PD - PRO353SER 387 387 ARG CYS G6PD GUADALAJARA ANEMIA - NONSPHEROCYTIC HEMOLYTIC - DUE TO G6PD DEFICIENCY G6PD - ARG387CYS 394 394 VAL LEU G6PD ALHAMBRA ANEMIA - NONSPHEROCYTIC HEMOLYTIC - DUE TO G6PD DEFICIENCY G6PD - VAL394LEU 410 410 GLY ASP G6PD JAPAN ANEMIA - NONSPHEROCYTIC HEMOLYTIC - DUE TO G6PD DEFICIENCY G6PD - GLY410ASP 439 439 ARG PRO G6PD PAWNEE ANEMIA - NONSPHEROCYTIC HEMOLYTIC - DUE TO G6PD DEFICIENCY G6PD - ARG439PRO 317 317 GLU LYS G6PD KERALA-KALYAN G6PD KERALA;; G6PD KALYAN G6PD - GLU317LYS 48 48 ILE THR G6PD AURES G6PD - ILE48THR 32 32 HIS ARG G6PD GAOHE G6PD - HIS32ARG 131 131 GLY VAL G6PD QUING YUAN G6PD - GLY131VAL 342 342 LEU PHE G6PD MAHIDOL-LIKE G6PD - LEU342PHE 44 44 ALA GLY G6PD ORISSA G6PD - ALA44GLY 173 173 PHE LEU G6PD NANKANG G6PD - PHE173LEU 181 181 ASP VAL G6PD MALAGA G6PD - ASP181VAL 467 467 PRO ARG G6PD NEAPOLIS G6PD - PRO467ARG 361 361 ALA VAL G6PD SERRES G6PD - ALA361VAL 269 269 CYS TYR G6PD AVEIRO ANEMIA - NONSPHEROCYTIC HEMOLYTIC - DUE TO G6PD DEFICIENCY G6PD - CYS269TYR 68 68 VAL MET G6PD ASAHI G6PD - VAL68MET 322 322 TYR HIS G6PD REHOVOT G6PD - TYR322HIS 459 459 ARG PRO G6PD COSENZA G6PD - ARG459PRO 481 481 PRO ARG G6PD SPLIT G6PD - PRO481ARG 70 70 HIS TYR G6PD NAMORU G6PD - HIS70TYR 198 198 ARG HIS G6PD NILGIRI G6PD - ARG198HIS 833 833 GLY ARG MENTAL RETARDATION - X-LINKED 94 GRIA3 - GLY833ARG 631 631 ARG SER MENTAL RETARDATION - X-LINKED 94 GRIA3 - ARG631SER 706 706 MET THR MENTAL RETARDATION - X-LINKED 94 GRIA3 - MET706THR 174 173 GLY ARG SURFACTANT METABOLISM DYSFUNCTION - PULMONARY - 4 CSF2RA - GLY174ARG 2209 2228 ARG GLN HEMOPHILIA A F8 - ARG2209GLN 272 291 GLU GLY HEMOPHILIA A F8 - GLU272GLY 2307 2326 ARG LEU HEMOPHILIA A F8 - ARG2307LEU 1941 1960 ARG GLN HEMOPHILIA A F8 - ARG1941GLN 372 391 ARG HIS FACTOR VIII (OKAYAMA) F8 - ARG372HIS 1689 1708 ARG CYS HEMOPHILIA A FACTOR VIII (EAST HARTFORD) F8 - ARG1689CYS 1680 1699 TYR PHE HEMOPHILIA A F8 - TYR1680PHE 1709 1728 TYR CYS HEMOPHILIA A F8 - TYR1709CYS 372 391 ARG CYS HEMOPHILIA A F8 - ARG372CYS 2307 2326 ARG GLN HEMOPHILIA A F8 - ARG2307GLN 2166 2185 LEU SER HEMOPHILIA A F8 - LEU2166SER 2116 2135 ARG PRO HEMOPHILIA A F8 - ARG2116PRO 170 189 SER LEU HEMOPHILIA A F8 - SER170LEU 1922 1941 ASN ASP HEMOPHILIA A F8 - ASN1922ASP 329 348 CYS ARG HEMOPHILIA A F8 - CYS329ARG 326 345 VAL LEU HEMOPHILIA A F8 - VAL326LEU 1704 1723 GLU LYS HEMOPHILIA A F8 - GLU1704LYS 2300 2319 PRO SER HEMOPHILIA A F8 - PRO2300SER 1772 1791 MET THR HEMOPHILIA A F8 - MET1772THR 566 585 ILE THR HEMOPHILIA A F8 - ILE566THR 7 26 LEU ARG HEMOPHILIA A F8 - LEU7ARG 11 30 GLU VAL HEMOPHILIA A F8 - GLU11VAL 22 41 GLY CYS HEMOPHILIA A F8 - GLY22CYS 70 89 GLY ASP HEMOPHILIA A F8 - GLY70ASP 73 92 GLY VAL HEMOPHILIA A F8 - GLY73VAL 80 99 VAL ASP HEMOPHILIA A F8 - VAL80ASP 85 104 VAL ASP HEMOPHILIA A F8 - VAL85ASP 89 108 LYS THR HEMOPHILIA A F8 - LYS89THR 91 110 MET VAL HEMOPHILIA A F8 - MET91VAL 98 117 LEU ARG HEMOPHILIA A F8 - LEU98ARG 111 130 GLY ARG HEMOPHILIA A F8 - GLY111ARG 113 132 GLU ASP HEMOPHILIA A F8 - GLU113ASP 114 133 TYR CYS HEMOPHILIA A F8 - TYR114CYS 116 135 ASP GLY HEMOPHILIA A F8 - ASP116GLY 118 118 TYR ILE HEMOPHILIA A F8 - TYR118ILE 145 164 GLY VAL HEMOPHILIA A F8 - GLY145VAL 146 165 PRO SER HEMOPHILIA A F8 - PRO146SER 162 181 VAL MET HEMOPHILIA A F8 - VAL162MET 166 185 LYS THR HEMOPHILIA A F8 - LYS166THR 203 222 ASP VAL HEMOPHILIA A F8 - ASP203VAL 205 224 GLY TRP HEMOPHILIA A F8 - GLY205TRP 247 266 GLY GLN HEMOPHILIA A F8 - GLY247GLN 259 278 GLY ARG HEMOPHILIA A F8 - GLY259ARG 266 285 VAL GLY HEMOPHILIA A F8 - VAL266GLY 275 294 THR ILE HEMOPHILIA A F8 - THR275ILE 280 299 ASN ILE HEMOPHILIA A F8 - ASN280ILE 282 301 ARG HIS HEMOPHILIA A F8 - ARG282HIS 282 301 ARG LEU HEMOPHILIA A F8 - ARG282LEU 289 308 SER LEU HEMOPHILIA A F8 - SER289LEU 293 312 PHE SER HEMOPHILIA A F8 - PHE293SER 295 314 THR ALA HEMOPHILIA A F8 - THR295ALA 308 327 LEU PRO HEMOPHILIA A F8 - LEU308PRO 329 348 CYS TYR HEMOPHILIA A F8 - CYS329TYR 329 348 CYS SER HEMOPHILIA A F8 - CYS329SER 373 392 SER LEU HEMOPHILIA A F8 - SER373LEU 373 392 SER PRO HEMOPHILIA A F8 - SER373PRO 386 405 ILE SER HEMOPHILIA A F8 - ILE386SER 390 409 GLU GLY HEMOPHILIA A F8 - GLU390GLY 412 431 LEU PHE HEMOPHILIA A F8 - LEU412PHE 425 444 LYS ARG HEMOPHILIA A F8 - LYS425ARG 431 450 TYR ASN HEMOPHILIA A F8 - TYR431ASN 473 492 TYR HIS HEMOPHILIA A F8 - TYR473HIS 473 492 TYR CYS HEMOPHILIA A F8 - TYR473CYS 475 494 ILE THR HEMOPHILIA A F8 - ILE475THR 479 498 GLY ARG HEMOPHILIA A F8 - GLY479ARG 525 544 ASP ASN HEMOPHILIA A F8 - ASP525ASN 527 546 ARG TRP HEMOPHILIA A F8 - ARG527TRP 531 550 ARG CYS HEMOPHILIA A F8 - ARG531CYS 531 550 ARG GLY HEMOPHILIA A F8 - ARG531GLY 531 550 ARG HIS HEMOPHILIA A F8 - ARG531HIS 535 554 SER GLY HEMOPHILIA A F8 - SER535GLY 542 561 ASP GLY HEMOPHILIA A F8 - ASP542GLY 558 577 SER PHE HEMOPHILIA A F8 - SER558PHE 565 584 GLN LYS HEMOPHILIA A F8 - GLN565LYS 577 596 SER PRO HEMOPHILIA A F8 - SER577PRO 584 603 SER ILE HEMOPHILIA A F8 - SER584ILE 585 604 TRP CYS HEMOPHILIA A F8 - TRP585CYS 586 605 TYR SER HEMOPHILIA A F8 - TYR586SER 593 612 ARG CYS HEMOPHILIA A F8 - ARG593CYS 612 631 ASN SER HEMOPHILIA A F8 - ASN612SER 634 653 VAL ALA HEMOPHILIA A F8 - VAL634ALA 634 653 VAL MET HEMOPHILIA A F8 - VAL634MET 644 663 ALA VAL HEMOPHILIA A F8 - ALA644VAL 658 677 PHE LEU HEMOPHILIA A F8 - PHE658LEU 698 717 ARG TRP HEMOPHILIA A F8 - ARG698TRP 704 723 ALA THR HEMOPHILIA A F8 - ALA704THR 720 739 GLU LYS HEMOPHILIA A F8 - GLU720LYS 1038 1057 GLU LYS HEMOPHILIA A F8 - GLU1038LYS 1689 1708 ARG HIS HEMOPHILIA A F8 - ARG1689HIS 1696 1715 ARG GLY HEMOPHILIA A F8 - ARG1696GLY 1750 1769 GLY ARG HEMOPHILIA A F8 - GLY1750ARG 1756 1775 LEU VAL HEMOPHILIA A F8 - LEU1756VAL 1756 1775 LEU PHE HEMOPHILIA A F8 - LEU1756PHE 1760 1779 GLY GLU HEMOPHILIA A F8 - GLY1760GLU 1781 1800 ARG HIS HEMOPHILIA A F8 - ARG1781HIS 1781 1800 ARG CYS HEMOPHILIA A F8 - ARG1781CYS 1781 1800 ARG GLY HEMOPHILIA A F8 - ARG1781GLY 1784 1803 SER TYR HEMOPHILIA A F8 - SER1784TYR 1789 1808 LEU PHE HEMOPHILIA A F8 - LEU1789PHE 1823 1842 MET ILE HEMOPHILIA A F8 - MET1823ILE 1825 1844 PRO SER HEMOPHILIA A F8 - PRO1825SER 1826 1845 THR PRO HEMOPHILIA A F8 - THR1826PRO 1834 1853 ALA VAL HEMOPHILIA A F8 - ALA1834VAL 1846 1865 ASP ASN HEMOPHILIA A F8 - ASP1846ASN 1846 1865 ASP TYR HEMOPHILIA A F8 - ASP1846TYR 1848 1867 HIS ARG HEMOPHILIA A F8 - HIS1848ARG 1854 1873 PRO ARG HEMOPHILIA A F8 - PRO1854ARG 1885 1904 GLU LYS HEMOPHILIA A F8 - GLU1885LYS 1922 1941 ASN SER HEMOPHILIA A F8 - ASN1922SER 1941 1960 ARG LEU HEMOPHILIA A F8 - ARG1941LEU 1948 1967 GLY ASP HEMOPHILIA A F8 - GLY1948ASP 1960 1979 GLY VAL HEMOPHILIA A F8 - GLY1960VAL 1961 1980 HIS TYR HEMOPHILIA A F8 - HIS1961TYR 1997 2016 ARG TRP HEMOPHILIA A F8 - ARG1997TRP 2019 2038 ASN SER HEMOPHILIA A F8 - ASN2019SER 2046 2065 TRP ARG HEMOPHILIA A F8 - TRP2046ARG 2069 2088 SER PHE HEMOPHILIA A F8 - SER2069PHE 2074 2093 ASP GLY HEMOPHILIA A F8 - ASP2074GLY 2101 2120 PHE LEU HEMOPHILIA A F8 - PHE2101LEU 2105 2105 CYS TYR HEMOPHILIA A F8 - CYS2105TYR 2119 2138 SER TYR HEMOPHILIA A F8 - SER2119TYR 2150 2169 ARG HIS HEMOPHILIA A F8 - ARG2150HIS 2153 2172 PRO GLN HEMOPHILIA A F8 - PRO2153GLN 2154 2173 THR ILE HEMOPHILIA A F8 - THR2154ILE 2159 2178 ARG CYS HEMOPHILIA A F8 - ARG2159CYS 2159 2178 ARG LEU HEMOPHILIA A F8 - ARG2159LEU 2159 2178 ARG HIS HEMOPHILIA A F8 - ARG2159HIS 2163 2182 ARG HIS HEMOPHILIA A F8 - ARG2163HIS 2163 2182 ARG CYS HEMOPHILIA A F8 - ARG2163CYS 2192 2211 ALA PRO HEMOPHILIA A F8 - ALA2192PRO 2209 2228 ARG LEU HEMOPHILIA A F8 - ARG2209LEU 2209 2228 ARG GLY HEMOPHILIA A F8 - ARG2209GLY 2229 2248 TRP CYS HEMOPHILIA A F8 - TRP2229CYS 2246 2265 GLN ARG HEMOPHILIA A F8 - GLN2246ARG 2300 2319 PRO LEU HEMOPHILIA A F8 - PRO2300LEU 2304 2323 ARG CYS HEMOPHILIA A F8 - ARG2304CYS 2304 2323 ARG HIS HEMOPHILIA A F8 - ARG2304HIS 179 198 CYS GLY HEMOPHILIA A F8 - CYS179GLY 16 35 TYR CYS HEMOPHILIA A F8 - TYR16CYS 132 132 ILE MET GOUT - HPRT-RELATED HPRT ANN ARBOR HPRT - ILE132MET 80 80 ASP VAL GOUT - HPRT-RELATED HPRT ARLINGTON HPRT - ASP80VAL 201 201 ASP GLY GOUT - HPRT-RELATED HPRT ASHVILLE HPRT - ASP201GLY 41 41 LEU PRO LESCH-NYHAN SYNDROME HPRT DETROIT HPRT - LEU41PRO 74 74 PHE LEU LESCH-NYHAN SYNDROME HPRT FLINT HPRT - PHE74LEU 193 193 ASP ASN LESCH-NYHAN SYNDROME HPRT KINSTON HPRT - ASP194ASN AND ASP193ASN 194 194 ASP ASN LESCH-NYHAN SYNDROME HPRT KINSTON HPRT - ASP194ASN AND ASP193ASN 110 110 SER LEU GOUT - HPRT-RELATED HPRT LONDON HPRT - SER110LEU 130 130 VAL ASP LESCH-NYHAN SYNDROME HPRT MIDLAND HPRT - VAL130ASP 161 161 ALA SER GOUT - HPRT-RELATED HPRT MILWAUKEE HPRT - ALA161SER 104 104 SER ARG GOUT - HPRT-RELATED HPRT MUNICH HPRT - SER104ARG 199 199 PHE VAL LESCH-NYHAN SYNDROME HPRT NEW BRITON HPRT - PHE199VAL 70 70 GLY GLU LESCH-NYHAN SYNDROME HPRT NEW HAVEN HPRT - GLY70GLU 71 71 GLY ARG LESCH-NYHAN SYNDROME HPRT YALE HPRT - GLY71ARG 203 203 HIS ASP LESCH-NYHAN SYNDROME HPRT - HIS203ASP 44 44 ARG LYS LESCH-NYHAN SYNDROME HPRT - ARG44LYS 176 176 ASP TYR LESCH-NYHAN SYNDROME HPRT - ASP176TYR 176 176 PRO LEU LESCH-NYHAN SYNDROME HPRT - PRO176LEU 51 51 ARG GLY GOUT - HPRT-RELATED HPRT TORONTO HPRT - ARG51GLY 56 56 MET THR LESCH-NYHAN SYNDROME - NEUROLOGIC VARIANT HPRT MONTREAL HPRT - MET56THR 143 143 MET LYS LESCH-NYHAN SYNDROME HPRT - MET143LYS 168 168 THR ILE GOUT - HPRT-RELATED HPRT BRISBANE HPRT - THR168ILE 16 16 GLY SER HPRT DEFICIENCY - PARTIAL HPRT URANGAN HPRT - GLY16SER 58 58 GLY ARG HPRT DEFICIENCY - PARTIAL HPRT TOOWONG HPRT - GLY58ARG 78 78 LEU VAL HPRT DEFICIENCY - PARTIAL HPRT SWAN HPRT - LEU78VAL 52 52 ASP GLY GOUT - HPRT-RELATED HPRT EDINBURGH HPRT - ASP52GLY 140 140 GLY ASP LESCH-NYHAN SYNDROME HPRT TOKYO HPRT - GLY140ASP 194 194 ASP GLU GOUT - HPRT-RELATED HPRT MOOSE JAW HPRT - ASP194GLU 65 65 LEU PHE HPRT DEFICIENCY - PARTIAL HPRT - LEU65PHE 114 114 GLY ASP SEVERE COMBINED IMMUNODEFICIENCY - X-LINKED IL2RG - GLY114ASP 153 153 ILE ASN SEVERE COMBINED IMMUNODEFICIENCY - X-LINKED IL2RG - ILE153ASN 271 271 LEU GLN COMBINED IMMUNODEFICIENCY - X-LINKED IL2RG - LEU271GLN 115 115 CYS ARG SEVERE COMBINED IMMUNODEFICIENCY - X-LINKED IL2RG - CYS115ARG 285 285 ARG GLN SEVERE COMBINED IMMUNODEFICIENCY - X-LINKED IL2RG - ARG285GLN 222 222 ARG CYS COMBINED IMMUNODEFICIENCY - X-LINKED IL2RG - ARG222CYS 151 151 LEU PRO SEVERE COMBINED IMMUNODEFICIENCY - X-LINKED IL2RG - LEU151PRO 514 514 GLU LYS KALLMANN SYNDROME 1 KAL1 - GLU514LYS 396 396 SER LEU KALLMANN SYNDROME 1 KAL1 - SER396LEU 264 264 CYS TYR HYDROCEPHALUS - X-LINKED L1CAM - CYS264TYR 210 210 HIS GLN MASA SYNDROME L1CAM - HIS210GLN 598 598 ASP ASN MASA SYNDROME L1CAM - ASP598ASN 452 452 GLY ARG HYDROCEPHALUS - X-LINKED L1CAM - GLY452ARG 184 184 ARG GLN HYDROCEPHALUS - X-LINKED L1CAM - ARG184GLN 1194 1194 SER LEU HYDROCEPHALUS - X-LINKED MASA SYNDROME - INCLUDED L1CAM - SER1194LEU 179 179 ILE SER CRASH SYNDROME L1CAM - ILE179SER 370 370 GLY ARG CRASH SYNDROME L1CAM - GLY370ARG 752 752 VAL MET HYDROCEPHALUS - X-LINKED - WITH HIRSCHSPRUNG DISEASE L1CAM - VAL752MET 240 240 PRO LEU HYDROCEPHALUS - X-LINKED CORPUS CALLOSUM - PARTIAL AGENESIS OF - X-LINKED - INCLUDED L1CAM - PRO240LEU 310 310 VAL ILE DANON DISEASE LAMP2 - VAL310ILE 321 321 TRP ARG DANON DISEASE LAMP2 - TRP321ARG 304 304 ILE ASN FRAGILE X MENTAL RETARDATION SYNDROME FMR1 - ILE304ASN 268 268 ASP ASN PHOSPHOGLYCERATE KINASE 1 DEFICIENCY - MUNCHEN PGK1 - ASP268ASN 206 206 ARG PRO PHOSPHOGLYCERATE KINASE 1 DEFICIENCY - UPPSALA PGK1 - ARG206PRO 266 266 VAL MET PHOSPHOGLYCERATE KINASE 1 DEFICIENCY - TOKYO PGK1 - VAL266MET 352 352 THR ASN PHOSPHOGLYCERATE KINASE 1 - PGK II PGK1 - THR352ASN 88 88 LEU PRO PHOSPHOGLYCERATE KINASE 1 DEFICIENCY - MATSUE PGK1 - LEU88PRO 157 157 GLY VAL PHOSPHOGLYCERATE KINASE 1 DEFICIENCY - SHIZUOKA PGK1 - GLY157VAL 315 315 CYS ARG PHOSPHOGLYCERATE KINASE 1 DEFICIENCY - MICHIGAN PGK1 - CYS315ARG 252 252 ILE THR PHOSPHOGLYCERATE KINASE 1 DEFICIENCY - HAMAMATSU PGK1 - ILE252THR 285 285 ASP VAL PHOSPHOGLYCERATE KINASE 1 DEFICIENCY - HERLEV PGK1 - ASP285VAL 46 46 ILE ASN PHOSPHOGLYCERATE KINASE 1 DEFICIENCY - BARCELONA PGK1 - ILE46ASN 319 319 SER ASN PHOSPHOGLYCERATE KINASE 1 DEFICIENCY - MURCIA PGK1 - SER319ASN 164 164 ASP VAL PHOSPHOGLYCERATE KINASE 1 DEFICIENCY - AMIENS PGK1 - ASP164VAL 378 378 THR PRO PHOSPHOGLYCERATE KINASE 1 DEFICIENCY - AFULA PGK1 - THR378PRO 113 113 ASN SER PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY PRPS1 - ASN113SER 182 182 ASP HIS PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY PRPS1 - ASP182HIS 51 51 ASP HIS PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY PRPS1 - ASP51HIS 128 128 LEU ILE PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY PRPS1 - LEU128ILE 189 189 ALA VAL PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY PRPS1 - ALA189VAL 192 192 HIS GLN PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY PRPS1 - HIS192GLN 43 43 GLU ASP CHARCOT-MARIE-TOOTH DISEASE - X-LINKED RECESSIVE - 5 PRPS1 - GLU43ASP 115 115 MET THR CHARCOT-MARIE-TOOTH DISEASE - X-LINKED RECESSIVE - 5 PRPS1 - MET115THR 152 152 LEU PRO ARTS SYNDROME PRPS1 - LEU152PRO 133 133 GLN PRO ARTS SYNDROME PRPS1 - GLN133PRO 65 65 ASP ASN DEAFNESS - X-LINKED 1 PRPS1 - ASP65ASN 87 87 ALA THR DEAFNESS - X-LINKED 1 PRPS1 - ALA87THR 306 306 GLY ARG DEAFNESS - X-LINKED 1 PRPS1 - GLY306ARG 290 290 ILE THR DEAFNESS - X-LINKED 1 PRPS1 - ILE290THR 299 299 ASP VAL GLYCOGEN STORAGE DISEASE - TYPE IXd PHKA1 - ASP299VAL 223 223 GLY ARG GLYCOGEN STORAGE DISEASE - TYPE IXd PHKA1 - GLY223ARG 130 130 PHE CYS RETINITIS PIGMENTOSA 3 RPGR - PHE130CYS 235 235 PRO SER RETINITIS PIGMENTOSA 3 RPGR - PRO235SER 275 275 GLY SER RETINITIS PIGMENTOSA 3 RPGR - GLY275SER 60 60 GLY VAL RETINITIS PIGMENTOSA 3 RPGR - GLY60VAL 99 99 THR ASN RETINITIS PIGMENTOSA 3 RPGR - THR99ASN 173 173 GLY ARG RETINITIS PIGMENTOSA - X-LINKED - AND SINORESPIRATORY INFECTIONS - WITH DEAFNESS RPGR - GLY173ARG 364 364 GLU ASP CONE DYSTROPHY - X-LINKED - 1 RPGR - GLU364ASP - GLU365TER 96 96 TRP ARG RETINOSCHISIS 1 - X-LINKED - JUVENILE RS1 - TRP96ARG 102 102 ARG TRP RETINOSCHISIS 1 - X-LINKED - JUVENILE RS1 - ARG102TRP 72 72 GLU LYS RETINOSCHISIS 1 - X-LINKED - JUVENILE RS1 - GLU72LYS 72 72 GLU ASP RETINOSCHISIS 1 - X-LINKED - JUVENILE RS1 - GLU72ASP 74 74 GLY VAL RETINOSCHISIS 1 - X-LINKED - JUVENILE RS1 - GLY74VAL 109 109 GLY ARG RETINOSCHISIS 1 - X-LINKED - JUVENILE RS1 - GLY109ARG 13 13 LEU PRO RETINOSCHISIS 1 - X-LINKED - JUVENILE RS1 - LEU13PRO 223 223 CYS ARG RETINOSCHISIS 1 - X-LINKED - JUVENILE RS1 - CYS223ARG 203 203 PRO LEU RETINOSCHISIS 1 - X-LINKED - JUVENILE RS1 - PRO203LEU 102 102 ARG GLN RETINOSCHISIS 1 - X-LINKED - JUVENILE RS1 - ARG102GLN 23 23 CYS SER SEROTONIN 5-HT-2C RECEPTOR POLYMORPHISM HTR2C - CYS23SER 132 132 LEU VAL LERI-WEILL DYSCHONDROSTEOSIS SHOX - LEU132VAL 153 153 ARG LEU LERI-WEILL DYSCHONDROSTEOSIS SHOX - ARG153LEU 173 173 ARG CYS LERI-WEILL DYSCHONDROSTEOSIS SHOX - ARG173CYS 168 168 ARG TRP LANGER MESOMELIC DYSPLASIA LERI-WEILL DYSCHONDROSTEOSIS - INCLUDED SHOX - ARG168TRP 217 217 GLY ARG MENTAL RETARDATION - X-LINKED - SYP-RELATED SYP - GLY217ARG 773 773 ARG CYS ANDROGEN INSENSITIVITY - COMPLETE AR - ARG773CYS 866 866 VAL MET ANDROGEN INSENSITIVITY - COMPLETE AR - VAL866MET 761 761 TYR CYS ANDROGEN INSENSITIVITY - PARTIAL AR - TYR761CYS 772 772 ARG CYS ANDROGEN INSENSITIVITY - COMPLETE AR - ARG772CYS 771 771 ALA THR ANDROGEN INSENSITIVITY - PARTIAL AR - ALA771THR 786 786 MET VAL ANDROGEN INSENSITIVITY - COMPLETE AR - MET786VAL 730 730 VAL MET PROSTATE CANCER AR - VAL730MET 773 773 ARG HIS ANDROGEN INSENSITIVITY - COMPLETE AR - ARG773HIS 607 607 ARG GLN ANDROGEN INSENSITIVITY - PARTIAL - WITH OR WITHOUT BREAST CANCER AR - ARG607GLN 865 865 VAL MET ANDROGEN INSENSITIVITY - COMPLETE AR - VAL865MET 865 865 VAL LEU ANDROGEN INSENSITIVITY - PARTIAL AR - VAL865LEU 855 855 ARG HIS ANDROGEN INSENSITIVITY - PARTIAL AR - ARG855HIS 869 869 ILE MET HYPOSPADIAS 1 - X-LINKED AR - ILE869MET 608 608 ARG LYS ANDROGEN INSENSITIVITY - PARTIAL - WITH BREAST CANCER AR - ARG608LYS 839 839 ARG HIS ANDROGEN INSENSITIVITY - PARTIAL AR - ARG839HIS 839 839 ARG CYS ANDROGEN INSENSITIVITY - PARTIAL AR - ARG839CYS 877 877 THR ALA PROSTATE CANCER AR - THR877ALA 676 676 LEU PRO ANDROGEN INSENSITIVITY - COMPLETE AR - LEU676PRO 877 877 THR SER PROSTATE CANCER AR - THR877SER 874 874 HIS TYR PROSTATE CANCER AR - HIS874TYR 902 902 GLN ARG PROSTATE CANCER AR - GLN902ARG 721 721 ALA THR PROSTATE CANCER AR - ALA721THR 647 647 SER ASN PROSTATE CANCER AR - SER647ASN 707 707 LEU ARG ANDROGEN INSENSITIVITY - COMPLETE AR - LEU707ARG 579 579 CYS PHE ANDROGEN INSENSITIVITY - COMPLETE AR - CYS579PHE 582 582 PHE TYR ANDROGEN INSENSITIVITY - COMPLETE AR - PHE582TYR 546 546 PRO SER HYPOSPADIAS 1 - X-LINKED AR - PRO546SER 2 2 GLU LYS ANDROGEN INSENSITIVITY - PARTIAL AR - GLU2LYS 780 780 MET ILE ANDROGEN INSENSITIVITY - COMPLETE AR - MET780ILE 846 846 ARG HIS ANDROGEN INSENSITIVITY - PARTIAL AR - ARG846HIS 798 798 GLN GLU ANDROGEN INSENSITIVITY - PARTIAL AR - GLN798GLU 807 807 MET THR ANDROGEN INSENSITIVITY - PARTIAL MET807THR 726 726 ARG LEU PROSTATE CANCER SUSCEPTIBILITY AR - ARG726LEU 888 888 SER SER ANDROGEN INSENSITIVITY SYNDROME AR - SER888SER 712 712 LEU PHE ANDROGEN INSENSITIVITY SYNDROME AR - LEU712PHE 577 577 GLY ARG ANDROGEN INSENSITIVITY SYNDROME AR - GLY577ARG 865 865 SER PRO ANDROGEN INSENSITIVITY SYNDROME AR - SER865PRO 856 856 PHE LEU ANDROGEN INSENSITIVITY SYNDROME AR - PHE856LEU 840 840 ARG CYS ANDROGEN INSENSITIVITY SYNDROME AR - ARG840CYS 689 689 HIS PRO ANDROGEN INSENSITIVITY - COMPLETE AR - HIS689PRO 743 743 GLY VAL ANDROGEN INSENSITIVITY - PARTIAL ANDROGEN INSENSITIVITY - COMPLETE - INCLUDED AR - GLY743VAL 743 743 GLY GLU ANDROGEN INSENSITIVITY - COMPLETE AR - GLY743GLU 740 740 SER CYS ANDROGEN INSENSITIVITY - PARTIAL AR - SER740CYS 645 645 ALA ASP ANDROGEN INSENSITIVITY - PARTIAL AR - ALA645ASP - SHORT POLYGLYCINE REPEAT - LONG POLYGLUTAMINE REPEAT 227 247 LEU PRO THYROXINE-BINDING GLOBULIN DEFICIENCY - COMPLETE COMPLETE DEFICIENCY 5 TBG - LEU227PRO 191 211 ALA THR THYROXINE-BINDING GLOBULIN - VARIANT A TBG-A;; TBG-ABORIGINE TBG - ALA191THR 283 303 LEU PHE THYROXINE-BINDING GLOBULIN - VARIANT P TBG-P TBG - LEU283PHE 171 191 ASP ASN THYROXINE-BINDING GLOBULIN - SLOW TBG-S TBG - ASP171ASN 331 351 HIS TYR THYROXINE-BINDING GLOBULIN DEFICIENCY - PARTIAL - QUEBEC TYPE THYROXINE-BINDING GLOBULIN - QUEBEC;; TBG-QUEBEC TBG - HIS331TYR 113 133 ALA PRO THYROXINE-BINDING GLOBULIN DEFICIENCY - PARTIAL - MONTREAL TYPE THYROXINE-BINDING GLOBULIN - MONTREAL;; TBG-MONTREAL TBG - ALA113PRO 96 116 ILE ASN THYROXINE-BINDING GLOBULIN DEFICIENCY - PARTIAL - GARY TYPE THYROXINE-BINDING GLOBULIN - GARY;; TBG-GARY TBG - ILE96ASN 309 329 TYR PHE THYROXINE-BINDING GLOBULIN - CHICAGO TBG-CHICAGO TBG - TYR309PHE 363 383 PRO LEU THYROXINE-BINDING GLOBULIN DEFICIENCY - PARTIAL - JAPANESE TYPE TBG-PDJ TBG - PRO363LEU 539 539 MET ILE SPINAL MUSCULAR ATROPHY - X-LINKED 2 UBE1 - MET539ILE 547 547 SER GLY SPINAL MUSCULAR ATROPHY - X-LINKED 2 UBE1 - SER547GLY 577 577 ASN ASN SPINAL MUSCULAR ATROPHY - X-LINKED 2 UBE1 - ASN577ASN 731 731 LEU PHE MENTAL RETARDATION - X-LINKED - JARID1C-RELATED JARID1C - LEU731PHE 388 388 ALA PRO MENTAL RETARDATION - X-LINKED - JARID1C-RELATED JARID1C - ALA388PRO 451 451 SER ARG MENTAL RETARDATION - X-LINKED - JARID1C-RELATED JARID1C - SER451ARG 766 766 ARG TRP MENTAL RETARDATION - X-LINKED - JARID1C-RELATED JARID1C - ARG766TRP 77 77 ALA THR MENTAL RETARDATION - X-LINKED - JARID1C-RELATED JARID1C - ALA77THR 294 294 CYS ARG MCLEOD SYNDROME XK - CYS294ARG 111 111 PRO LEU MENTAL RETARDATION - X-LINKED 89 ZNF41 - PRO111LEU 179 179 SER ASN MENTAL RETARDATION - X-LINKED 45 ZNF81 - SER179ASN 109 109 PHE SER 46 -XY GONADAL DYSGENESIS - COMPLETE - SRY-RELATED SRY - PHE109SER 60 60 VAL LEU 46 -XY GONADAL DYSGENESIS - COMPLETE - SRY-RELATED SRY - VAL60LEU 90 90 ILE MET 46 -XY GONADAL DYSGENESIS - COMPLETE - SRY-RELATED 46 -XY TRUE HERMAPHRODITISM - INCLUDED SRY - ILE90MET 106 106 LYS ILE 46 -XY GONADAL DYSGENESIS - COMPLETE - SRY-RELATED SRY - LYS106ILE 113 113 ALA THR 46 -XY GONADAL DYSGENESIS - COMPLETE - SRY-RELATED SRY - ALA113THR 68 68 ILE THR 46 -XY GONADAL DYSGENESIS - COMPLETE - SRY-RELATED SRY - ILE68THR 64 64 MET ILE 46 -XY GONADAL DYSGENESIS - COMPLETE - SRY-RELATED SRY - MET64ILE 95 95 GLY ARG 46 -XY GONADAL DYSGENESIS - COMPLETE - SRY-RELATED SRY - GLY95ARG 133 133 ARG TRP 46 -XY GONADAL DYSGENESIS - COMPLETE - SRY-RELATED SRY - ARG133TRP 18 18 SER ASN GONADAL DYSGENESIS - PARTIAL SRY - SER18ASN 95 95 GLY GLU 46 -XY GONADAL DYSGENESIS - COMPLETE - SRY-RELATED SRY - GLY95GLU 127 127 TYR PHE 46 -XY GONADAL DYSGENESIS - COMPLETE - SRY-RELATED SRY - TYR127PHE 1 1 MET THR CANCER OF COLON SUDDEN INFANT DEATH SYNDROME - INCLUDED MTND1 - 3308T-C - MET1THR 71 71 LEU PRO LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY MTND2 - LEU71PRO 45 45 SER PRO MITOCHONDRIAL COMPLEX I DEFICIENCY MTND3 - SER45PRO 47 47 ALA THR LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY LEBER OPTIC ATROPHY AND DYSTONIA - INCLUDED MTND3 - 10197G-A - ALA47THR 312 313 VAL ILE LEBER OPTIC ATROPHY AND DYSTONIA MTND4 - VAL312ILE 32 32 CYS ARG COLORECTAL CANCER MTND4L - CYS32ARG 124 124 PHE LEU LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY MTND5 - 12706T-C - PHE124LEU 145 145 GLU GLY MELAS SYNDROME MTND5 - 12770A-G - GLU145GLY 237 237 MET LEU MELAS SYNDROME LEBER OPTIC ATROPHY - INCLUDED;; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY - INCLUDED MTND5 - 13045A-C - MET237LEU 250 250 SER CYS LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY MELAS SYNDROME - INCLUDED MTND5 - 13084A-T - SER250CYS 393 393 ASP ASN MELAS SYNDROME LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY - INCLUDED MTND5 - 13513G-A - ASP393ASN 236 236 ALA THR MELAS SYNDROME MERRF SYNDROME - INCLUDED;; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY - INCLUDED MTND5 - 13042G-A - ALA236THR 171 171 ALA VAL LEBER OPTIC ATROPHY MTND5 - 12848C-T - ALA171VAL 80 80 ARG HIS COLORECTAL CANCER MTCYB - 14985G-A - ARG80HIS 276 276 PHE LEU COLORECTAL CANCER MTCYB - 15572T-C - PHE276LEU 290 290 GLY ASP EXERCISE INTOLERANCE MTCYB - 15615G-A - GLY290ASP 34 34 GLY SER EXERCISE INTOLERANCE MTCYB - 14846G-A - GLY34SER 151 151 SER PRO EXERCISE INTOLERANCE MTCYB - 15197T-C - SER151PRO 278 278 TYR CYS MULTISYSTEM DISORDER MTCYB - 15579A-G - TYR278CYS 251 251 GLY ASP CARDIOMYOPATHY - INFANTILE HISTIOCYTOID MTCYB - 15498G-A - GLY251ASP 35 35 SER PRO EXERCISE INTOLERANCE - CARDIOMYOPATHY - AND SEPTOOPTIC DYSPLASIA MTCYB - 14849T-C - SER35PRO 251 251 GLY SER OBESITY - SUSCEPTIBILITY TO MTCYB - 15497G-A - GLY251SER 196 196 LEU ILE CYTOCHROME c OXIDASE I DEFICIENCY MTCO1 - LEU196ILE 142 142 SER PHE CYTOCHROME c OXIDASE I DEFICIENCY MTCO1 - SER142PHE 125 125 GLY ASP COLORECTAL CANCER MTCO1 - GLY125ASP 458 458 SER PRO COLORECTAL CANCER MTCO1 - SER458PRO 142 142 VAL MET COLORECTAL CANCER MTCO2 - 8009G-A - VAL142MET 156 156 LEU ARG LEIGH SYNDROME NARP SYNDROME - INCLUDED MTATP6 - 8993T-G - LEU156ARG 156 156 LEU PRO LEIGH SYNDROME ATAXIA AND POLYNEUROPATHY - ADULT-ONSET - INCLUDED MTATP6 - 8993T-C - LEU156PRO 192 192 ILE THR LEBER OPTIC ATROPHY MTATP6 - 9101T-C - ILE192THR 220 220 LEU PRO LEIGH SYNDROME MTATP6 - 9185T-C - LEU220PRO 1 1 MET THR CARDIOMYOPATHY - INFANTILE HYPERTROPHIC MTATP6 - MET1THR 217 217 LEU ARG LEIGH SYNDROME MTATP6 - 9176T-G - LEU217ARG 55 55 TRP ARG CARDIOMYOPATHY - INFANTILE HYPERTROPHIC MTATP8 - TRP55ARG 481 481 SER LEU BRUGADA SYNDROME 4 CACNB2 - SER481LEU 40 40 ASN ASP RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE OPRM1 - 118A-G - ASN40ASP 152 152 GLU ALA PROSTATE CANCER MXI1 - GLU152ALA 54 54 ALA VAL NEUROFIBROSARCOMA MXI1 - ALA54VAL 119 119 PRO LEU PELGER-HUET ANOMALY LBR - PRO119LEU 569 569 PRO ARG PELGER-HUET ANOMALY LBR - PRO569ARG 372 372 ARG CYS REYNOLDS SYNDROME LBR - ARG372CYS 385 385 LEU LEU CHITOTRIOSIDASE DEFICIENCY CHIT1 - GLY354ARG - LEU385LEU - AND 4-BP DEL 354 354 GLY ARG CHITOTRIOSIDASE DEFICIENCY CHIT1 - GLY354ARG - LEU385LEU - AND 4-BP DEL 74 74 GLU LYS CHITOTRIOSIDASE DEFICIENCY CHIT1 - GLU74LYS 102 102 GLY SER CHITOTRIOSIDASE DEFICIENCY CHIT1 - GLY102SER 89 89 ARG GLY MICROPHTHALMIA - SYNDROMIC 5 OTX2 - ARG89GLY 67 67 GLY ARG LEUKEMIA - T-CELL ACUTE LYMPHOBLASTIC - SOMATIC BAX - GLY67ARG 1417 1477 CYS ARG TANGIER DISEASE ABCA1 - CYS1417ARG 537 597 GLN ARG TANGIER DISEASE ABCA1 - GLN537ARG 875 935 ASN SER TANGIER DISEASE ABCA1 - ASN875SER 877 937 ALA VAL TANGIER DISEASE ABCA1 - ALA877VAL 530 590 TRP SER TANGIER DISEASE ABCA1 - TRP530SER 1446 1506 SER LEU TANGIER DISEASE ABCA1 - SER1446LEU 935 935 ASN SER TANGIER DISEASE ABCA1 - ASN935SER 935 935 ASN HIS TANGIER DISEASE ABCA1 - ASN935HIS 1680 1680 ARG TRP TANGIER DISEASE - VARIANT ABCA1 - ARG1680TRP 1099 1099 ASP TYR HIGH DENSITY LIPOPROTEIN DEFICIENCY ABCA1 - ASP1099TYR 2009 2009 PHE SER HIGH DENSITY LIPOPROTEIN DEFICIENCY ABCA1 - PHE2009SER 1229 1289 ASP ASN TANGIER DISEASE ABCA1 - ASP1229ASN 2021 2081 ARG TRP TANGIER DISEASE ABCA1 - ARG2021TRP 219 219 ARG LYS CORONARY HEART DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA - PROTECTION AGAINST ABCA1 - ARG219LYS 163 163 PRO LEU ROD MONOCHROMACY CNGA3 - PRO163LEU 283 283 ARG TRP ROD MONOCHROMACY CNGA3 - ARG283TRP 283 283 ARG GLN ROD MONOCHROMACY CNGA3 - ARG283GLN 557 557 GLY ARG ROD MONOCHROMACY CNGA3 - GLY557ARG 291 291 THR ARG ROD MONOCHROMACY CNGA3 - THR291ARG 547 547 PHE LEU ROD MONOCHROMACY CNGA3 - PHE547LEU 411 411 ARG TRP ROD MONOCHROMACY CNGA3 - ARG411TRP 529 529 VAL MET ROD MONOCHROMACY CNGA3 - VAL529MET 277 277 ARG CYS ROD MONOCHROMACY CNGA3 - ARG277CYS 436 436 ARG TRP ROD MONOCHROMACY CNGA3 - ARG436TRP 593 593 ARG CYS LEUKOCYTE ADHESION DEFICIENCY ITGB2 - ARG593CYS 196 196 LYS THR LEUKOCYTE ADHESION DEFICIENCY ITGB2 - LYS196THR 149 149 LEU PRO LEUKOCYTE ADHESION DEFICIENCY ITGB2 - LEU149PRO 169 169 GLY ARG LEUKOCYTE ADHESION DEFICIENCY ITGB2 - GLY169ARG 586 586 ARG TRP LEUKOCYTE ADHESION DEFICIENCY ITGB2 - ARG586TRP 351 351 ASN SER LEUKOCYTE ADHESION DEFICIENCY ITGB2 - ASN351SER 178 178 PRO LEU LEUKOCYTE ADHESION DEFICIENCY ITGB2 - PRO178LEU 128 128 ASP ASN LEUKOCYTE ADHESION DEFICIENCY ITGB2 - ASP128ASN 284 284 GLY SER LEUKOCYTE ADHESION DEFICIENCY ITGB2 - GLY284SER 138 138 SER PRO LEUKOCYTE ADHESION DEFICIENCY ITGB2 - SER138PRO 273 273 GLY ARG LEUKOCYTE ADHESION DEFICIENCY ITGB2 - GLY273ARG 2522 2522 TYR HIS DONNAI-BARROW SYNDROME LRP2 - TYR2522HIS 61 61 LYS ARG COLON CANCER PTPN1 - LYS61ARG 72 72 LEU GLN OVARIAN CANCER - SOMATIC RRAS2 - LEU72GLN 56 75 PHE SER SPONDYLOEPIMETAPHYSEAL DYSPLASIA - MISSOURI TYPE MMP13 - PHE56SER 55 74 PHE SER METAPHYSEAL ANADYSPLASIA 1 - AUTOSOMAL DOMINANT MMP13 - PHE55SER 72 91 MET THR METAPHYSEAL ANADYSPLASIA 1 - AUTOSOMAL DOMINANT MMP13 - MET72THR 213 232 HIS ASN METAPHYSEAL ANADYSPLASIA 1 - AUTOSOMAL RECESSIVE MMP13 - HIS213ASN 290 290 PRO ARG EPISODIC ATAXIA - TYPE 6 SLC1A3 - PRO290ARG 186 186 CYS SER EPISODIC ATAXIA - TYPE 6 SLC1A3 - CYS186SER 98 98 ARG HIS MUSCULAR DYSTROPHY - LIMB-GIRDLE - TYPE 2D SGCA - ARG98HIS 175 175 VAL ALA MUSCULAR DYSTROPHY - LIMB-GIRDLE - TYPE 2D SGCA - VAL175ALA 77 77 ARG CYS MUSCULAR DYSTROPHY - LIMB-GIRDLE - TYPE 2D SGCA - ARG77CYS 137 137 GLU GLY MUSCULAR DYSTROPHY - LIMB-GIRDLE - TYPE 2D SGCA - 15-BP INS - GLU137GLY 284 284 ARG CYS MUSCULAR DYSTROPHY - LIMB-GIRDLE - TYPE 2D SGCA - ARG284CYS 1378 1378 ARG PRO RUBINSTEIN-TAYBI SYNDROME 1 CREBBP - ARG1378PRO 1175 1175 TYR CYS RUBINSTEIN-TAYBI SYNDROME 1 - INCOMPLETE CREBBP - TYR1175CYS 1278 1278 GLU LYS RUBINSTEIN-TAYBI SYNDROME 1 CREBBP - G3832A; GLU1278LYS 434 434 ASP GLY GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA KCNMA1 - ASP434GLY 259 259 GLY SER MELANOMA - CUTANEOUS MALIGNANT - 2 CDKN2A - GLY259SER 101 101 GLY TRP MELANOMA - CUTANEOUS MALIGNANT - 2 MELANOMA-PANCREATIC CANCER SYNDROME - INCLUDED CDKN2A - GLY101TRP 53 53 MET ILE MELANOMA - CUTANEOUS MALIGNANT - 2 CDKN2A - MET53ILE 24 24 ARG PRO MELANOMA - CUTANEOUS MALIGNANT - 2 CDKN2A - ARG24PRO 94 94 ALA GLU LI-FRAUMENI SYNDROME CDKN2A - ALA94GLU 126 126 VAL ASP MELANOMA - CUTANEOUS MALIGNANT - 2 CDKN2A - VAL126ASP 122 122 GLY ARG MELANOMA - CUTANEOUS MALIGNANT - 2 CDKN2A - GLY122ARG 59 59 VAL GLY MELANOMA - CUTANEOUS MALIGNANT - 2 CDKN2A - VAL59GLY 114 114 PRO SER MELANOMA - CUTANEOUS MALIGNANT - 2 CDKN2A - LEU113LEU AND PRO114SER 113 113 LEU LEU MELANOMA - CUTANEOUS MALIGNANT - 2 CDKN2A - LEU113LEU AND PRO114SER 56 56 SER ILE MELANOMA - CUTANEOUS MALIGNANT - 2 CDKN2A - SER56ILE 89 89 GLY ASP MELANOMA - CUTANEOUS MALIGNANT - 2 - SUSCEPTIBILITY TO CDKN2A - GLY89ASP 259 259 GLY SER MELANOMA - CUTANEOUS MALIGNANT - 2 CDKN2A - GLY259SER 101 101 GLY TRP MELANOMA - CUTANEOUS MALIGNANT - 2 MELANOMA-PANCREATIC CANCER SYNDROME - INCLUDED CDKN2A - GLY101TRP 53 53 MET ILE MELANOMA - CUTANEOUS MALIGNANT - 2 CDKN2A - MET53ILE 24 24 ARG PRO MELANOMA - CUTANEOUS MALIGNANT - 2 CDKN2A - ARG24PRO 94 94 ALA GLU LI-FRAUMENI SYNDROME CDKN2A - ALA94GLU 126 126 VAL ASP MELANOMA - CUTANEOUS MALIGNANT - 2 CDKN2A - VAL126ASP 122 122 GLY ARG MELANOMA - CUTANEOUS MALIGNANT - 2 CDKN2A - GLY122ARG 59 59 VAL GLY MELANOMA - CUTANEOUS MALIGNANT - 2 CDKN2A - VAL59GLY 114 114 PRO SER MELANOMA - CUTANEOUS MALIGNANT - 2 CDKN2A - LEU113LEU AND PRO114SER 113 113 LEU LEU MELANOMA - CUTANEOUS MALIGNANT - 2 CDKN2A - LEU113LEU AND PRO114SER 56 56 SER ILE MELANOMA - CUTANEOUS MALIGNANT - 2 CDKN2A - SER56ILE 89 89 GLY ASP MELANOMA - CUTANEOUS MALIGNANT - 2 - SUSCEPTIBILITY TO CDKN2A - GLY89ASP 1644 1644 ARG HIS LONG QT SYNDROME 3 SCN5A - ARG1644HIS 1325 1325 ASN SER LONG QT SYNDROME 3 SCN5A - ASN1325SER 1232 1232 ARG TRP BRUGADA SYNDROME 1 SCN5A - ARG1232TRP AND THR1620MET 1620 1620 THR MET BRUGADA SYNDROME 1 SCN5A - ARG1232TRP AND THR1620MET 1623 1623 ARG GLN LONG QT SYNDROME 3 LONG QT SYNDROME 3/6 - DIGENIC - INCLUDED SCN5A - ARG1623GLN 1784 1784 GLU LYS LONG QT SYNDROME 3 BRUGADA SYNDROME 1 - INCLUDED;; SINUS NODE DISEASE - INCLUDED SCN5A - GLU1784LYS 1512 1512 ARG TRP BRUGADA SYNDROME 1 SCN5A - ARG1512TRP 1924 1924 ALA THR BRUGADA SYNDROME 1 SCN5A - ALA1924THR 1710 1710 SER LEU VENTRICULAR FIBRILLATION - PAROXYSMAL FAMILIAL SCN5A - SER1710LEU 941 941 SER ASN LONG QT SYNDROME 3 SCN5A - SER941ASN 514 514 GLY CYS CARDIAC CONDUCTION DEFECT - NONPROGRESSIVE SCN5A - GLY514CYS 1595 1595 ASP ASN PROGRESSIVE FAMILIAL HEART BLOCK - TYPE IA SCN5A - ASP1595ASN 298 298 GLN SER PROGRESSIVE FAMILIAL HEART BLOCK - TYPE IA SCN5A - GLN298SER 997 997 ALA SER LONG QT SYNDROME 3 SCN5A - ALA997SER 1826 1826 ARG HIS LONG QT SYNDROME 3 SCN5A - ARG1826HIS 367 367 ARG HIS BRUGADA SYNDROME 1 SCN5A - ARG367HIS 735 735 ALA VAL BRUGADA SYNDROME 1 SCN5A - ALA735VAL 1193 1193 ARG GLN BRUGADA SYNDROME 1 LONG QT SYNDROME 3 - ACQUIRED - SUSCEPTIBILITY TO - INCLUDED SCN5A - ARG1193GLN 1103 1103 SER TYR LONG QT SYNDROME 3 - ACQUIRED - SUSCEPTIBILITY TO SUDDEN INFANT DEATH SYNDROME - INCLUDED SCN5A - SER1103TYR 1298 1298 PRO LEU SICK SINUS SYNDROME 1 - AUTOSOMAL RECESSIVE SCN5A - PRO1298LEU 1408 1408 GLY ARG SICK SINUS SYNDROME 1 - AUTOSOMAL RECESSIVE BRUGADA SYNDROME 1 - INCLUDED;; CARDIAC CONDUCTION DEFECT - NONSPECIFIC - INCLUDED SCN5A - GLY1408ARG 220 220 THR ILE SICK SINUS SYNDROME 1 - AUTOSOMAL RECESSIVE SCN5A - THR220ILE 1795 1795 TYR CYS LONG QT SYNDROME 3 SCN5A - TYR1795CYS 1795 1795 TYR HIS BRUGADA SYNDROME 1 SCN5A - TYR1795HIS 558 558 HIS ARG PROGRESSIVE FAMILIAL HEART BLOCK - TYPE IA SCN5A - THR512ILE AND HIS558ARG 512 512 THR ILE PROGRESSIVE FAMILIAL HEART BLOCK - TYPE IA SCN5A - THR512ILE AND HIS558ARG 1262 1262 GLY SER BRUGADA SYNDROME 1 SCN5A - GLY1262SER 1053 1053 GLU LYS BRUGADA SYNDROME 1 SCN5A - GLU1053LYS 1275 1275 ASP ASN CARDIOMYOPATHY - DILATED - 1E ATRIAL STANDSTILL - INCLUDED SCN5A - ASP1275ASN 1819 1819 ASP ASN LONG QT SYNDROME 2/3 - DIGENIC SCN5A - ASP1819ASN 220 220 THR ILE CARDIOMYOPATHY - DILATED - 1E SCN5A - THR220ILE 1595 1595 ASP HIS CARDIOMYOPATHY - DILATED - 1E SCN5A - ASP1595HIS 1308 1308 LEU PHE BRUGADA SYNDROME SCN5A - VAL232ILE and LEU1308PHE 232 232 VAL ILE BRUGADA SYNDROME SCN5A - VAL232ILE and LEU1308PHE 100 100 TYR CYS SEVERE COMBINED IMMUNODEFICIENCY - AUTOSOMAL RECESSIVE - T CELL-NEGATIVE - B CELL-POSITIVE - NK CELL-NEGATIVE JAK3 - TYR100CYS 169 169 ASP GLU SEVERE COMBINED IMMUNODEFICIENCY - AUTOSOMAL RECESSIVE - T CELL-NEGATIVE - B CELL-POSITIVE - NK CELL-NEGATIVE JAK3 - ASP169GLU 565 565 PHE SER LEBER CONGENITAL AMAUROSIS 1 GUCY2D - PHE565SER 52 52 ALA SER LEBER CONGENITAL AMAUROSIS 1 GUCY2D - ALA52SER 837 837 GLU ASP CONE-ROD DYSTROPHY 6 GUCY2D - GLU837ASP AND ARG838SER 838 838 ARG SER CONE-ROD DYSTROPHY 6 GUCY2D - GLU837ASP AND ARG838SER 838 838 ARG CYS CONE-ROD DYSTROPHY 6 GUCY2D - ARG838CYS 837 837 GLU ASP CONE-ROD DYSTROPHY 6 GUCY2D - GLU837ASP - ARG838CYS - AND THR839MET 839 839 THR MET CONE-ROD DYSTROPHY 6 GUCY2D - GLU837ASP - ARG838CYS - AND THR839MET 838 838 ARG CYS CONE-ROD DYSTROPHY 6 GUCY2D - GLU837ASP - ARG838CYS - AND THR839MET 838 838 ARG HIS CONE-ROD DYSTROPHY 6 GUCY2D - ARG838HIS 949 949 ILE THR CONE-ROD DYSTROPHY 6 GUCY2D - ILE949THR 372 372 ASN HIS BREAST-OVARIAN CANCER - FAMILIAL - SUSCEPTIBILITY TO - 2 BRCA2 - ASN372HIS 2722 2722 THR ARG BREAST-OVARIAN CANCER - FAMILIAL - SUSCEPTIBILITY TO - 2 BRCA2 - THR2722ARG 2510 2510 LEU PRO FANCONI ANEMIA - COMPLEMENTATION GROUP D1 BRCA2 - LEU2510PRO 493 487 GLU ASP ICHTHYOSIS BULLOSA OF SIEMENS KRT2 - GLU493ASP 493 487 GLU LYS ICHTHYOSIS BULLOSA OF SIEMENS ICHTHYOSIS EXFOLIATIVA - INCLUDED KRT2 - GLU493LYS 187 181 GLN PRO ICHTHYOSIS BULLOSA OF SIEMENS KRT2 - GLN187PRO 485 479 THR PRO ICHTHYOSIS BULLOSA OF SIEMENS KRT2 - THR485PRO 192 186 ASN TYR ICHTHYOSIS BULLOSA OF SIEMENS KRT2 - ASN192TYR 482 476 GLU LYS ICHTHYOSIS BULLOSA OF SIEMENS KRT2 - GLU482LYS 192 186 ASN ASP ICHTHYOSIS BULLOSA OF SIEMENS KRT2 - ASN192ASP 192 186 ASN LYS ICHTHYOSIS BULLOSA OF SIEMENS KRT2 - ASN192LYS 175 175 MET ARG CLEIDOCRANIAL DYSPLASIA RUNX2 - MET175ARG 191 191 SER ASN CLEIDOCRANIAL DYSPLASIA RUNX2 - SER191ASN 225 225 ARG GLN CLEIDOCRANIAL DYSPLASIA RUNX2 - ARG225GLN 225 225 ARG TRP CLEIDOCRANIAL DYSPLASIA RUNX2 - ARG225TRP 200 200 THR ALA CLEIDOCRANIAL DYSPLASIA CLEIDOCRANIAL DYSPLASIA - FORME FRUSTE - DENTAL ANOMALIES ONLY - INCLUDED RUNX2 - THR200ALA 169 169 ARG PRO CLEIDOCRANIAL DYSPLASIA RUNX2 - ARG169PRO 849 849 ARG TRP VENOUS MALFORMATIONS - MULTIPLE CUTANEOUS AND MUCOSAL TEK - ARG849TRP 897 897 TYR SER VENOUS MALFORMATIONS - MULTIPLE CUTANEOUS AND MUCOSAL TEK - TYR897SER 88 88 ARG TRP DYSTONIA - DOPA-RESPONSIVE GCH1 - ARG88TRP 134 134 ASP VAL DYSTONIA - DOPA-RESPONSIVE GCH1 - ASP134VAL 201 201 GLY GLU DYSTONIA - DOPA-RESPONSIVE GCH1 - GLY201GLU 1 1 MET ILE DYSTONIA - DOPA-RESPONSIVE GCH1 - MET1ILE 144 144 HIS PRO DYSTONIA - DOPA-RESPONSIVE GCH1 - HIS144PRO 221 221 MET THR DYSTONIA - DOPA-RESPONSIVE - WITH OR WITHOUT HYPERPHENYLALANINEMIA - AUTOSOMAL RECESSIVE GCH1 - MET221THR 108 108 GLY ASP DYSTONIA - DOPA-RESPONSIVE - WITH OR WITHOUT HYPERPHENYLALANINEMIA - AUTOSOMAL RECESSIVE GCH1 - GLY108ASP 224 224 LYS ARG DYSTONIA - DOPA-RESPONSIVE DYSTONIA - DOPA-RESPONSIVE - WITH OR WITHOUT HYPERPHENYLALANINEMIA - AUTOSOMAL RECESSIVE - INCLUDED GCH1 - LYS224ARG 196 196 ALA SER DYSTONIA - DOPA-RESPONSIVE GCH1 - ALA196SER 135 135 ILE LYS DYSTONIA - DOPA-RESPONSIVE GCH1 - ILE135LYS 249 249 ARG SER DYSTONIA - DOPA-RESPONSIVE - WITH OR WITHOUT HYPERPHENYLALANINEMIA - AUTOSOMAL RECESSIVE GCH1 - ARG249SER 211 211 MET ILE HYPERPHENYLALANINEMIA - BH4-DEFICIENT - B GCH1 - MET211ILE 184 184 ARG HIS HYPERPHENYLALANINEMIA - BH4-DEFICIENT - B GCH1 - ARG184HIS 199 199 PRO ALA DYSTONIA - DOPA-RESPONSIVE - WITH OR WITHOUT HYPERPHENYLALANINEMIA - AUTOSOMAL RECESSIVE GCH1 - PRO199ALA 562 562 SER LEU PSEUDOHYPOALDOSTERONISM - TYPE I - AUTOSOMAL RECESSIVE SCNN1A - SER562LEU 114 114 VAL ILE BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2 SCNN1A - VAL114ILE 493 493 TRP ARG BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2 SCNN1A - TRP493ARG 81 81 ARG CYS BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2 SCNN1A - ARG81CYS 174 174 PHE LEU MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY HMGCS2 - PHE174LEU 212 212 GLY ARG MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY HMGCS2 - GLY212ARG 500 500 ARG HIS MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY HMGCS2 - ARG500HIS 54 54 VAL MET MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY HMGCS2 - VAL54MET 167 167 TYR CYS MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY HMGCS2 - TYR167CYS 121 121 CYS TRP GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS SCN1B - CYS121TRP 87 87 GLU GLN CARDIAC CONDUCTION DEFECT - NONSPECIFIC SCN1B - GLU87GLN 46 46 SER ILE MISMATCH REPAIR CANCER SYNDROME PMS2 - SER46ILE 543 543 ASP ASN BURULI ULCER - SUSCEPTIBILITY TO SLC11A1 - ASP543ASN 444 444 CYS TYR ALAGILLE SYNDROME 2 NOTCH2 - CYS444TYR 71 71 TRP CYS CEREBRAL ARTERIOPATHY - AUTOSOMAL DOMINANT - WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY NOTCH3 - TRP71CYS 169 169 ARG CYS CEREBRAL ARTERIOPATHY - AUTOSOMAL DOMINANT - WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY NOTCH3 - ARG169CYS 182 182 ARG CYS CEREBRAL ARTERIOPATHY - AUTOSOMAL DOMINANT - WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY NOTCH3 - ARG182CYS 455 455 CYS ARG CEREBRAL ARTERIOPATHY - AUTOSOMAL DOMINANT - WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY NOTCH3 - CYS455ARG 332 332 ARG CYS CEREBRAL ARTERIOPATHY - AUTOSOMAL DOMINANT - WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY NOTCH3 - ARG332CYS 133 133 ARG CYS CEREBRAL ARTERIOPATHY - AUTOSOMAL DOMINANT - WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY NOTCH3 - ARG133CYS 1020 1020 ALA PRO CEREBRAL ARTERIOPATHY - AUTOSOMAL DOMINANT - WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY NOTCH3 - ALA1020PRO 428 428 CYS SER CEREBRAL ARTERIOPATHY - AUTOSOMAL DOMINANT - WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY NOTCH3 - CYS428SER 127 136 ARG TRP MATURITY-ONSET DIABETES OF THE YOUNG - TYPE 1 HNF4A - ARG127TRP 393 402 VAL ILE NONINSULIN-DEPENDENT DIABETES MELLITUS HNF4A - VAL393ILE 364 373 MET ARG MATURITY-ONSET DIABETES OF THE YOUNG - TYPE 1 HNF4A - MET364ARG 240 294 GLY ARG CHARCOT-MARIE-TOOTH DISEASE - AXONAL - TYPE 2D GARS - GLY240ARG 129 183 LEU PRO NEURONOPATHY - DISTAL HEREDITARY MOTOR - TYPE V GARS - LEU129PRO 71 125 GLU GLY CHARCOT-MARIE-TOOTH DISEASE - AXONAL - TYPE 2D NEURONOPATHY - DISTAL HEREDITARY MOTOR - TYPE V - INCLUDED GARS - GLU71GLY 526 580 GLY ARG NEURONOPATHY - DISTAL HEREDITARY MOTOR - TYPE V GARS - GLY526ARG 500 554 ASP ASN CHARCOT-MARIE-TOOTH DISEASE - AXONAL - TYPE 2D NEURONOPATHY - DISTAL HEREDITARY MOTOR - TYPE V - INCLUDED GARS - ASP500ASN 244 298 PRO LEU CHARCOT-MARIE-TOOTH DISEASE - AXONAL - TYPE 2D GARS - PRO244LEU 222 222 LEU PHE 2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY ACADSB - LEU222PHE 148 148 THR ILE 2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY ACADSB - THR148ILE 387 387 GLU LYS 2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY ACADSB - GLU387LYS 472 472 ASP TYR PSEUDOACHONDROPLASIA COMP - ASP472TYR 468 468 CYS TYR PSEUDOACHONDROPLASIA COMP - CYS468TYR 342 342 ASP TYR EPIPHYSEAL DYSPLASIA - MULTIPLE - 1 - SEVERE COMP - ASP342TYR 328 328 CYS ARG PSEUDOACHONDROPLASIA COMP - CYS328ARG 523 523 ASN LYS EPIPHYSEAL DYSPLASIA - MULTIPLE - 1 - MILD COMP - ASN523LYS 453 453 ASN SER EPIPHYSEAL DYSPLASIA - MULTIPLE - 1 - SEVERE COMP - ASN453SER 473 473 ASP GLY PSEUDOACHONDROAPLASIA COMP - ASP473GLY 719 719 GLY ASP PSEUDOACHONDROPLASIA - SEVERE COMP - GLY719ASP 348 348 CYS ARG PSEUDOACHONDROPLASIA COMP - CYS348ARG 718 718 ARG TRP EPIPHYSEAL DYSPLASIA - MULTIPLE - 1 COMP - ARG718TRP 66 66 SER ARG RETINITIS PIGMENTOSA 44 RGR - SER66ARG 274 274 THR ILE SPINAL MUSCULAR ATROPHY - TYPE II SPINAL MUSCULAR ATROPHY - TYPE III - INCLUDED SMN1 - THR274ILE 262 262 SER ILE SPINAL MUSCULAR ATROPHY - TYPE III SMN1 - SER262ILE 272 272 TYR CYS SPINAL MUSCULAR ATROPHY - TYPE I SMN1 - TYR272CYS 279 279 GLY VAL SPINAL MUSCULAR ATROPHY - TYPE I SMN1 - GLY279VAL 2 2 ALA GLY SPINAL MUSCULAR ATROPHY - TYPE II SPINAL MUSCULAR ATROPHY - TYPE III - INCLUDED SMN1 - ALA2GLY 30 30 ASP ASN SPINAL MUSCULAR ATROPHY - TYPE II SMN1 - ASP30ASN 44 44 ASP VAL SPINAL MUSCULAR ATROPHY - TYPE III SMN1 - ASP44VAL 95 95 GLY ARG SPINAL MUSCULAR ATROPHY - TYPE III SMN1 - GLY95ARG 111 111 ALA GLY SPINAL MUSCULAR ATROPHY - TYPE I SPINAL MUSCULAR ATROPHY - TYPE II - INCLUDED SMN1 - ALA111GLY 262 262 SER GLY SPINAL MUSCULAR ATROPHY - TYPE III SMN1 - SER262GLY 116 116 ILE PHE SPINAL MUSCULAR ATROPHY - TYPE I SMN1 - ILE116PHE 136 136 GLN GLU SPINAL MUSCULAR ATROPHY - TYPE I SMN1 - GLN136GLU 200 200 SER ARG BARTTER SYNDROME - ANTENATAL - TYPE 2 KCNJ1 - SER200ARG 195 195 ALA VAL BARTTER SYNDROME - ANTENATAL - TYPE 2 KCNJ1 - ALA195VAL 338 338 MET THR BARTTER SYNDROME - ANTENATAL - TYPE 2 KCNJ1 - MET338THR 198 198 ALA THR BARTTER SYNDROME - ANTENATAL - TYPE 2 KCNJ1 - ALA198THR 167 167 GLY GLU BARTTER SYNDROME - ANTENATAL - TYPE 2 KCNJ1 - GLY167GLU 108 108 ASP HIS BARTTER SYNDROME - ANTENATAL - TYPE 2 KCNJ1 - ASP108HIS 124 124 LYS ASN BARTTER SYNDROME - ANTENATAL - TYPE 2 KCNJ1 - LYS124ASN 99 99 TYR CYS CONE DYSTROPHY 3 CONE-ROD DYSTROPHY 14 - INCLUDED GUCA1A - TYR99CYS 50 50 PRO LEU CONE DYSTROPHY 3 GUCA1A - PRO50LEU 151 151 LEU PHE CONE-ROD DYSTROPHY 14 CONE DYSTROPHY 3 - INCLUDED GUCA1A - LEU151PHE 72 72 GLY GLU MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY SLC25A3 - GLY72GLU 295 295 ARG PRO BARDET-BIEDL SYNDROME 4 BBS4 - ARG295PRO 364 364 ALA GLU BARDET-BIEDL SYNDROME 4 BBS4 - ALA364GLU 489 489 ASN LYS ADRENOLEUKODYSTROPHY - NEONATAL PEX5 - ASN489LYS 101 101 HIS GLN ATAXIA AND RETINITIS PIGMENTOSA WITH ISOLATED VITAMIN E DEFICIENCY TTPA - HIS101GLN 192 192 ARG HIS ATAXIA - FRIEDREICH-LIKE - WITH ISOLATED VITAMIN E DEFICIENCY TTPA - ARG192HIS 742 742 ARG CYS HIRSCHSPRUNG DISEASE - CARDIAC DEFECTS - AND AUTONOMIC DYSFUNCTION ECE1 - ARG742CYS 348 348 GLY GLU ADULT i BLOOD GROUP WITH CONGENITAL CATARACT GCNT2 - GLY348GLU 383 383 ARG HIS ADULT i BLOOD GROUP WITH CONGENITAL CATARACT GCNT2 - ARG383HIS 169 169 ALA THR ADULT i BLOOD GROUP WITHOUT CONGENITAL CATARACT GCNT2 - ALA169THR 228 228 ARG GLN ADULT i BLOOD GROUP WITHOUT CONGENITAL CATARACT GCNT2 - ARG228GLN 348 348 GLY GLU ADULT i BLOOD GROUP WITH CONGENITAL CATARACT GCNT2 - GLY348GLU 383 383 ARG HIS ADULT i BLOOD GROUP WITH CONGENITAL CATARACT GCNT2 - ARG383HIS 169 169 ALA THR ADULT i BLOOD GROUP WITHOUT CONGENITAL CATARACT GCNT2 - ALA169THR 228 228 ARG GLN ADULT i BLOOD GROUP WITHOUT CONGENITAL CATARACT GCNT2 - ARG228GLN 348 348 GLY GLU ADULT i BLOOD GROUP WITH CONGENITAL CATARACT GCNT2 - GLY348GLU 383 383 ARG HIS ADULT i BLOOD GROUP WITH CONGENITAL CATARACT GCNT2 - ARG383HIS 169 169 ALA THR ADULT i BLOOD GROUP WITHOUT CONGENITAL CATARACT GCNT2 - ALA169THR 228 228 ARG GLN ADULT i BLOOD GROUP WITHOUT CONGENITAL CATARACT GCNT2 - ARG228GLN 722 722 TYR CYS OBESITY - HYPERPHAGIA - AND DEVELOPMENTAL DELAY TRKB - TYR722CYS 14 14 HIS ASN HYPOGONADOTROPIC HYPOGONADISM FGF8 - HIS14ASN 26 26 PRO LEU KALLMANN SYNDROME 6 FGF8 - PRO26LEU 40 40 PHE LEU HYPOGONADOTROPIC HYPOGONADISM FGF8 - PHE40LEU 100 100 LYS GLU HYPOGONADOTROPIC HYPOGONADISM FGF8 - LYS100GLU 127 127 ARG GLY KALLMANN SYNDROME 6 HYPOGONADOTROPIC HYPOGONADISM - INCLUDED FGF8 - ARG127GLY 229 229 THR MET HYPOGONADOTROPIC HYPOGONADISM FGF8 - THR229MET 514 514 GLU LYS DISTAL SPINAL MUSCULAR ATROPHY - AUTOSOMAL RECESSIVE - 1 IGHMBP2 - GLU514LYS 213 213 HIS ARG DISTAL SPINAL MUSCULAR ATROPHY - AUTOSOMAL RECESSIVE - 1 IGHMBP2 - HIS213ARG 580 580 VAL ILE DISTAL SPINAL MUSCULAR ATROPHY - AUTOSOMAL RECESSIVE - 1 IGHMBP2 - VAL580ILE 369 369 PHE LEU DISTAL SPINAL MUSCULAR ATROPHY - AUTOSOMAL RECESSIVE - 1 IGHMBP2 - PHE369LEU 716 716 GLY VAL HYPERINSULINEMIC HYPOGLYCEMIA - FAMILIAL - 1 ABCC8 - GLY716VAL 1353 1353 ARG PRO HYPERINSULINEMIC HYPOGLYCEMIA - FAMILIAL - 1 ABCC8 - ARG1353PRO 1421 1421 ARG CYS HYPERINSULINEMIC HYPOGLYCEMIA - FAMILIAL - 1 ABCC8 - ARG1421CYS 1494 1494 ARG TRP HYPERINSULINEMIC HYPOGLYCEMIA - FAMILIAL - 1 ABCC8 - ARG1494TRP 1506 1506 GLU LYS HYPERINSULINEMIC HYPOGLYCEMIA - FAMILIAL - 1 ABCC8 - GLU1506LYS 1353 1353 ARG HIS LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY ABCC8 - ARG1353HIS 187 187 VAL ASP HYPERINSULINEMIC HYPOGLYCEMIA - FAMILIAL - 1 ABCC8 - VAL187ASP 132 132 PHE LEU DIABETES MELLITUS - PERMANENT NEONATAL - WITH NEUROLOGIC FEATURES ABCC8 - PHE132LEU 213 213 LEU ARG DIABETES MELLITUS - PERMANENT NEONATAL ABCC8 - LEU213ARG 1424 1424 ILE VAL DIABETES MELLITUS - PERMANENT NEONATAL ABCC8 - ILE1424VAL 1379 1379 ARG CYS DIABETES MELLITUS - TRANSIENT NEONATAL - 2 DIABETES MELLITUS - NONINSULIN-DEPENDENT - INCLUDED ABCC8 - ARG1379CYS 582 582 LEU VAL DIABETES MELLITUS - TRANSIENT NEONATAL - 2 DIABETES MELLITUS - NONINSULIN-DEPENDENT - INCLUDED ABCC8 - LEU582VAL 72 72 ASN SER DIABETES MELLITUS - PERMANENT NEONATAL ABCC8 - ASN72SER 382 382 GLU LYS DIABETES MELLITUS - PERMANENT NEONATAL ABCC8 - GLU382LYS 1185 1185 ALA GLU DIABETES MELLITUS - PERMANENT NEONATAL ABCC8 - ALA1185GLU 45 45 PRO LEU DIABETES MELLITUS - PERMANENT NEONATAL ABCC8 - 134C-T - PRO45LEU 1401 1401 GLY ARG DIABETES MELLITUS - PERMANENT NEONATAL ABCC8 - GLY1401ARG 86 86 VAL GLY DIABETES MELLITUS - PERMANENT NEONATAL ABCC8 - 257T-G - VAL86GLY 256 256 ARG GLN BLEEDING DISORDER DUE TO P2RY12 DEFECT P2RY12 - ARG256GLN 265 265 ARG TRP BLEEDING DISORDER DUE TO P2RY12 DEFECT P2RY12 - ARG265TRP 111 111 SER PRO PHOSPHOLIPASE A2 - GROUP IV A - DEFICIENCY OF PLA2G4A - SER111PRO 485 485 ARG HIS PHOSPHOLIPASE A2 - GROUP IV A - DEFICIENCY OF PLA2G4A - ARG485HIS 399 399 GLU ASP ANEMIA - HYPOCHROMIC MICROCYTIC - WITH IRON OVERLOAD SLC11A2 - GLU399ASP 416 416 ARG CYS ANEMIA - HYPOCHROMIC MICROCYTIC - WITH IRON OVERLOAD SLC11A2 - ARG416CYS 212 212 GLY VAL ANEMIA - HYPOCHROMIC MICROCYTIC - WITH IRON OVERLOAD SLC11A2 - GLY212VAL 454 454 ASP GLY CARNITINE PALMITOYLTRANSFERASE IA DEFICIENCY CPT1A - ASP454GLY 360 360 GLU GLY CARNITINE PALMITOYLTRANSFERASE IA DEFICIENCY CPT1A - GLU360GLY 414 414 ALA VAL CARNITINE PALMITOYLTRANSFERASE IA DEFICIENCY CPT1A - ALA414VAL 498 498 TYR CYS CARNITINE PALMITOYLTRANSFERASE IA DEFICIENCY CPT1A - TYR498CYS 709 709 GLY GLU CARNITINE PALMITOYLTRANSFERASE IA DEFICIENCY CPT1A - GLY709GLU 710 710 GLY GLU CARNITINE PALMITOYLTRANSFERASE IA DEFICIENCY CPT1A - GLY710GLU 29 29 ALA VAL RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE NDUFV2 - ALA29VAL 353 353 ARG CYS NEURAL TUBE DEFECT VANGL2 - ARG353CYS 437 437 PHE SER NEURAL TUBE DEFECT VANGL2 - PHE437SER 706 706 LEU SER ATYPICAL MYCOBACTERIAL INFECTION - FAMILIAL DISSEMINATED STAT1 - LEU706SER 600 600 LEU PRO STAT1 DEFICIENCY - COMPLETE STAT1 - LEU600PRO 463 463 GLN HIS ATYPICAL MYCOBACTERIAL INFECTION - FAMILIAL DISSEMINATED STAT1 - GLN463HIS 320 320 GLU GLN ATYPICAL MYCOBACTERIAL INFECTION - FAMILIAL DISSEMINATED STAT1 - GLU320GLN 715 715 GLY GLU RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE CLCN2 - GLY715GLU 235 235 ARG GLN EPILEPSY - JUVENILE MYOCLONIC - SUSCEPTIBILITY TO - 8 CLCN2 - ARG235GLN 577 577 ARG GLN EPILEPSY - IDIOPATHIC GENERALIZED - SUSCEPTIBILITY TO - 11 CLCN2 - ARG577GLN 296 296 GLY SER ATRIAL SEPTAL DEFECT 2 GATA4 - GLY296SER 52 52 SER PHE ATRIAL SEPTAL DEFECT 2 GATA4 - SER52PHE 316 316 GLN GLU ATRIAL SEPTAL DEFECT 2 GATA4 - GLN316GLU 425 425 ASP ASN ATRIAL SEPTAL DEFECT 2 TETRALOGY OF FALLOT - INCLUDED GATA4 - ASP425ASN 116 116 TYR CYS PITUITARY HORMONE DEFICIENCY - COMBINED - 3 LHX3 - TYR116CYS 210 210 ALA VAL PITUITARY HORMONE DEFICIENCY - COMBINED - 3 LHX3 - ALA210VAL 178 178 THR MET ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS NKX2-5 - THR178MET 25 25 ARG CYS TETRALOGY OF FALLOT HYPOTHYROIDISM - CONGENITAL - NONGOITROUS - 5 NKX2-5 - ARG25CYS 21 21 GLU GLN TETRALOGY OF FALLOT NKX2-5 - GLU21GLN 216 216 ARG CYS TETRALOGY OF FALLOT NKX2-5 - ARG216CYS 219 219 ALA VAL TETRALOGY OF FALLOT NKX2-5 - ALA219VAL 299 299 ASP GLY ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS - SOMATIC ATRIOVENTRICULAR SEPTAL DEFECT - SOMATIC - INCLUDED NKX2-5 - ASP299GLY 190 190 ARG CYS ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS NKX2-5 - ARG190CYS 119 119 ALA SER HYPOTHYROIDISM - CONGENITAL - NONGOITROUS - 5 NKX2-5 - ALA119SER 161 161 ARG PRO HYPOTHYROIDISM - CONGENITAL - NONGOITROUS - 5 NKX2-5 - ARG161PRO 183 183 LYS GLU ATRIOVENTRICULAR SEPTAL DEFECT - SOMATIC NKX2-5 - LYS183GLU 299 299 HIS TYR BLOOD GROUP--LUTHERAN INHIBITOR KLF1 - HIS299TYR 325 325 GLU LYS ANEMIA - DYSERYTHROPOIETIC CONGENITAL - TYPE IV KLF1 - GLU325LYS 182 182 ARG LEU LIPOID CONGENITAL ADRENAL HYPERPLASIA STAR - ARG182LEU 217 217 ARG THR LIPOID CONGENITAL ADRENAL HYPERPLASIA STAR - ARG217THR 218 218 ARG VAL LIPOID CONGENITAL ADRENAL HYPERPLASIA STAR - ARG218VAL 182 182 ARG HIS LIPOID CONGENITAL ADRENAL HYPERPLASIA STAR - ARG182HIS 187 187 VAL MET LIPOID CONGENITAL ADRENAL HYPERPLASIA STAR - VAL187MET 188 188 ARG CYS LIPOID CONGENITAL ADRENAL HYPERPLASIA STAR - ARG188CYS 95 95 PRO ARG OVARIAN CANCER - SOMATIC OPCML - PRO95ARG 243 243 ARG SER CHOREA - BENIGN HEREDITARY NKX2-1 - ARG243SER 238 238 TRP LEU CHOREA - BENIGN HEREDITARY NKX2-1 - TRP238LEU 45 45 VAL PHE CHOREOATHETOSIS - CONGENITAL HYPOTHYROIDISM - AND NEONATAL RESPIRATORY DISTRESS NKX2-1 - VAL45PHE 631 631 ARG CYS CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY - INFANTILE CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY - LATE-ONSET - INCLUDED CPT2 - ARG631CYS 113 113 SER LEU CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY - LATE-ONSET CPT2 - SER113LEU 50 50 PRO HIS CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY - LATE-ONSET CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY - INFANTILE - INCLUDED CPT2 - PRO50HIS 553 553 ASP ASN CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY - LATE-ONSET CPT2 - ASP553ASN 628 628 TYR SER CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY - INFANTILE CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY - LATE-ONSET - INCLUDED CPT2 - TYR628SER 174 174 GLU LYS CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY - INFANTILE CPT2 - GLU174LYS 383 383 PHE TYR CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY - INFANTILE CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY - LATE-ONSET - INCLUDED CPT2 - PHE383TYR 503 503 ARG CYS MYOPATHY - VARIABLE CPT2 - ARG503CYS 448 448 PHE LEU CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY - LATE-ONSET CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY - LETHAL NEONATAL - INCLUDED;; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY - INFANTILE - INCLUDED CPT2 - 2-BP DEL - 1237AG AND PHE448LEU 227 227 PRO LEU CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY - LETHAL NEONATAL CPT2 - PRO227LEU 213 213 ASP GLY CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY - LATE-ONSET CPT2 - ASP213GLY 120 120 TYR CYS CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY - INFANTILE CPT2 - TYR120CYS 279 279 PRO LEU CORONARY ARTERY DISEASE/MYOCARDIAL INFARCTION MEF2A - PRO279LEU 263 263 ASN SER CORONARY ARTERY DISEASE/MYOCARDIAL INFARCTION MEF2A - ASN263SER 283 283 GLY ASP CORONARY ARTERY DISEASE/MYOCARDIAL INFARCTION MEF2A - GLY283ASP 241 241 THR MET MELANOMA - CUTANEOUS MALIGNANT - SUSCEPTIBILITY TO - 6 XRCC3 - THR241MET 878 878 VAL ALA COLON CANCER - HEREDITARY NONPOLYPOSIS - TYPE 5 MSH6 - VAL878ALA 71 71 ASP VAL ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS KCNJ2 - ASP71VAL 218 218 ARG TRP ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS KCNJ2 - ARG218TRP 300 300 GLY VAL ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS KCNJ2 - GLY300VAL 67 67 ARG TRP ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS KCNJ2 - ARG67TRP 186 186 PRO LEU ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS KCNJ2 - PRO186LEU 302 302 VAL MET ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS KCNJ2 - VAL302MET 216 216 ASN HIS ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS KCNJ2 - ASN216HIS 172 172 ASP ASN SHORT QT SYNDROME 3 KCNJ2 - ASP172ASN 75 75 THR ARG ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS KCNJ2 - THR75ARG 54 54 CYS PHE ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS KCNJ2 - CYS54PHE 305 305 THR PRO ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS KCNJ2 - THR305PRO 204 204 LYS GLU ERYTHROCYTE LACTATE TRANSPORTER DEFECT SLC16A1 - LYS204GLU 472 472 GLY ARG ERYTHROCYTE LACTATE TRANSPORTER DEFECT SLC16A1 - GLY472ARG 63 63 ARG HIS ARTHROGRYPOSIS - DISTAL - TYPE 2B TNNT3 - ARG63HIS 620 620 ARG TRP DIABETES MELLITUS - INSULIN-DEPENDENT - SUSCEPTIBILITY TO RHEUMATOID ARTHRITIS - SUSCEPTIBILITY TO - INCLUDED;; SYSTEMIC LUPUS ERYTHEMATOSUS - SUSCEPTIBILITY TO - INCLUDED;; HASHIMOTO THYROIDITIS - SUSCEPTIBILITY TO - INCLUDED;; ADDISON DISEASE - SUSCEPTIBILITY TO - INCLUDED PTPN22 - ARG620TRP 122 122 ARG TRP CEROID LIPOFUSCINOSIS - NEURONAL - 1 PPT1 - ARG122TRP 75 75 THR PRO CEROID LIPOFUSCINOSIS - NEURONAL - 1 PPT1 - THR75PRO 79 79 ASP GLY CEROID LIPOFUSCINOSIS - NEURONAL - 1 PPT1 - ASP79GLY 219 219 LEU GLN CEROID LIPOFUSCINOSIS - NEURONAL - 1 PPT1 - LEU219GLN 108 108 GLY ARG CEROID LIPOFUSCINOSIS - NEURONAL - 1 PPT1 - GLY108ARG 45 45 CYS TYR CEROID LIPOFUSCINOSIS - NEURONAL - 1 PPT1 - CYS45TYR 993 993 GLY VAL RETINITIS PIGMENTOSA 45 CNGB1 - GLY993VAL 31 31 GLY ARG HOLOPROSENCEPHALY 3 SHH - GLY31ARG 117 117 TRP GLY HOLOPROSENCEPHALY 3 SHH - TRP117GLY 117 117 TRP ARG HOLOPROSENCEPHALY 3 SHH - TRP117ARG 224 224 VAL GLU HOLOPROSENCEPHALY 3 SHH - VAL224GLU 226 226 ALA THR HOLOPROSENCEPHALY 3 SHH - ALA226THR 384 384 ALA THR HOLOPROSENCEPHALY 3 SHH - ALA384THR 290 290 GLY ASP HOLOPROSENCEPHALY 3 SHH - GLY290ASP 424 424 PRO ALA HOLOPROSENCEPHALY 3 SHH - PRO424ALA 111 111 ILE PHE SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SHH - ILE111PHE 88 88 ASP VAL HOLOPROSENCEPHALY 3 SHH - ASP88VAL 332 332 VAL ALA SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SHH - VAL332ALA 115 115 ASN LYS HOLOPROSENCEPHALY 3 SHH - ASN115LYS 95 95 GLU LYS BRACHYDACTYLY - TYPE A1 IHH - GLU95LYS 131 131 GLU LYS BRACHYDACTYLY - TYPE A1 IHH - GLU131LYS 100 100 ASP GLU BRACHYDACTYLY - TYPE A1 IHH - ASP100GLU 100 100 ASP ASN BRACHYDACTYLY - TYPE A1 IHH - ASP100ASN 46 46 PRO LEU ACROCAPITOFEMORAL DYSPLASIA IHH - PRO46LEU 190 190 VAL ALA ACROCAPITOFEMORAL DYSPLASIA IHH - VAL190ALA 95 95 GLU GLY BRACHYDACTYLY - TYPE A1 IHH - GLU95GLY 154 154 THR ILE BRACHYDACTYLY - TYPE A1 IHH - THR154ILE 128 128 ARG GLN BRACHYDACTYLY - TYPE A1 IHH - ARG128GLN 130 130 THR ASN BRACHYDACTYLY - TYPE A1 IHH - THR130ASN 76 76 ASP ASN DIABETES MELLITUS - TYPE II - SUSCEPTIBILITY TO PDX1 - ASP76ASN 59 59 GLN LEU DIABETES MELLITUS - TYPE II - SUSCEPTIBILITY TO PDX1 - GLN59LEU 18 18 CYS ARG DIABETES MELLITUS - TYPE II - SUSCEPTIBILITY TO PDX1 - CYS18ARG 197 197 ARG HIS DIABETES MELLITUS - TYPE II - SUSCEPTIBILITY TO PDX1 - ARG197HIS 224 224 GLU LYS MATURITY-ONSET DIABETES OF THE YOUNG - TYPE IV PDX1 - GLU224LYS 164 164 GLU ASP PANCREATIC AGENESIS PDX1 - GLU164ASP 178 178 GLU LYS PANCREATIC AGENESIS PDX1 - GLU178LYS 387 387 GLY ARG LONG QT SYNDROME 13 KCNJ5 - GLY387ARG 141 141 ASN ILE ALZHEIMER DISEASE - FAMILIAL - 4 PSEN2 - ASN141ILE 239 239 MET VAL ALZHEIMER DISEASE - FAMILIAL - 4 PSEN2 - MET239VAL 439 439 ASP ALA ALZHEIMER DISEASE - FAMILIAL - 4 PSEN2 - ASP439ALA 430 430 THR MET ALZHEIMER DISEASE - FAMILIAL - 4 PSEN2 - THR430MET 122 122 THR PRO ALZHEIMER DISEASE - FAMILIAL - 4 PSEN2 - THR122PRO 239 239 MET ILE ALZHEIMER DISEASE - FAMILIAL - 4 PSEN2 - MET239ILE 122 122 THR ARG ALZHEIMER DISEASE - FAMILIAL - 4 PSEN2 - THR122ARG 130 130 SER LEU CARDIOMYOPATHY - DILATED - 1V ALZHEIMER DISEASE - FAMILIAL - 4 - INCLUDED PSEN2 - SER130LEU 85 85 ALA VAL ALZHEIMER DISEASE - FAMILIAL - 4 PSEN2 - ALA85VAL 616 616 PRO LEU LIDDLE SYNDROME SCNN1B - PRO616LEU 37 37 GLY SER PSEUDOHYPOALDOSTERONISM - TYPE I - AUTOSOMAL RECESSIVE SCNN1B - GLY37SER 618 618 TYR HIS LIDDLE SYNDROME SCNN1B - TYR618HIS 615 615 PRO SER LIDDLE SYNDROME SCNN1B - PRO615SER 616 616 PRO ARG LIDDLE SYNDROME SCNN1B - PRO616ARG 267 267 PRO LEU BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 SCNN1B - PRO267LEU 294 294 GLY SER BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 SCNN1B - GLY294SER 539 539 GLU LYS BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 SCNN1B - GLU539LYS 369 369 PRO THR BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 SCNN1B - PRO369THR 288 288 ASN SER BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 SCNN1B - ASN288SER 82 82 SER CYS BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 SCNN1B - SER82CYS 183 183 GLY SER BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3 SCNN1G - GLY183SER 197 197 GLU LYS BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3 SCNN1G - GLU197LYS 62 62 GLN PRO OBESITY - SUSCEPTIBILITY TO PYY - GLN62PRO 1057 1057 GLY ASP DIABETES - TYPE II - SUSCEPTIBILITY TO IRS2 - GLY1057ASP 647 647 LEU VAL DIABETES - TYPE II - SUSCEPTIBILITY TO IRS2 - LEU647VAL 118 118 CYS TRP PULMONARY HYPERTENSION - PRIMARY - 1 BMPR2 - CYS118TRP 347 347 CYS TYR PULMONARY HYPERTENSION - PRIMARY - 1 BMPR2 - CYS347TYR 485 485 ASP GLY PULMONARY HYPERTENSION - PRIMARY - 1 BMPR2 - ASP485GLY 491 491 ARG TRP PULMONARY HYPERTENSION - PRIMARY - 1 BMPR2 - ARG491TRP 491 491 ARG GLN PULMONARY HYPERTENSION - PRIMARY - 1 BMPR2 - ARG491GLN 123 123 CYS ARG PULMONARY HYPERTENSION - PRIMARY - 1 BMPR2 - CYS123ARG 123 123 CYS SER PULMONARY HYPERTENSION - PRIMARY - 1 BMPR2 - CYS123SER 899 899 ARG PRO PULMONARY HYPERTENSION - PRIMARY - 1 BMPR2 - ARG899PRO 182 182 GLY ASP PULMONARY HYPERTENSION - PRIMARY - FENFLURAMINE-ASSOCIATED BMPR2 - GLY182ASP 244 244 LYS GLU XERODERMA PIGMENTOSUM - COMPLEMENTATION GROUP E - DDB-NEGATIVE FORM DDB2 - LYS244GLU 273 273 ARG HIS XERODERMA PIGMENTOSUM - COMPLEMENTATION GROUP E - DDB-NEGATIVE FORM DDB2 - ARG273HIS 307 307 ASP TYR XERODERMA PIGMENTOSUM - COMPLEMENTATION GROUP E - DDB-NEGATIVE FORM DDB2 - ASP307TYR 117 117 ASN SER ATAXIA-TELANGIECTASIA-LIKE DISORDER MRE11A - ASN117SER 481 481 THR LYS ATAXIA-TELANGIECTASIA-LIKE DISORDER MRE11A - THR481LYS 210 210 TRP CYS ATAXIA-TELANGIECTASIA-LIKE DISORDER MRE11A - TRP210CYS 4 4 TRP ARG CARDIOMYOPATHY - DILATED - 1M CSRP3 - TRP4ARG 58 58 CYS GLY CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 12 CSRP3 - CYS58GLY 44 44 LEU PRO CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 12 CSRP3 - LEU44PRO 54 54 SER ARG CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 12 CSRP3 - SER54ARG AND GLU55GLY 55 55 GLU GLY CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 12 CSRP3 - SER54ARG AND GLU55GLY 69 69 LYS ARG CARDIOMYOPATHY - DILATED - 1M CSRP3 - LYS69ARG 46 46 SER ARG CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 12 CSRP3 - SER46ARG 29 29 ARG TRP CONE DYSTROPHY 4 PDE6C - ARG29TRP 323 323 TYR ASN ACHROMATOPISIA 5 PDE6C - TYR323ASN 455 455 MET VAL ACHROMATOPISIA 5 PDE6C - MET455VAL 602 602 HIS LEU ACHROMATOPISIA 5 PDE6C - HIS602LEU 790 790 GLU LYS ACHROMATOPISIA 5 PDE6C - GLU790LYS 93 93 ARG TRP HIRSCHSPRUNG DISEASE - SUSCEPTIBILITY TO - 3 CENTRAL HYPOVENTILATION SYNDROME - CONGENITAL - INCLUDED;; PHEOCHROMOCYTOMA - MODIFIER OF - INCLUDED GDNF - ARG93TRP 150 150 ASP ASN HIRSCHSPRUNG DISEASE - SUSCEPTIBILITY TO - 3 GDNF - ASP150ASN 154 154 THR SER HIRSCHSPRUNG DISEASE - SUSCEPTIBILITY TO - 3 GDNF - THR154SER 211 211 ILE MET HIRSCHSPRUNG DISEASE - SUSCEPTIBILITY TO - 3 GDNF - ILE211MET 648 648 ASP ASN BARTTER SYNDROME - ANTENATAL - TYPE 1 SLC12A1 - ASP648ASN 272 272 VAL PHE BARTTER SYNDROME - ANTENATAL - TYPE 1 SLC12A1 - VAL272PHE 446 446 PRO LEU FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5 GCKR - PRO446LEU (dbSNP rs1260326) 554 554 ARG TRP LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX II DEFICIENCY SDHA - ARG554TRP 524 524 ALA VAL LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX II DEFICIENCY SDHA - ALA524VAL 1 1 MET LEU LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX II DEFICIENCY SDHA - MET1LEU 555 555 GLY GLU MITOCHONDRIAL COMPLEX II DEFICIENCY LEIGH SYNDROME - INCLUDED;; CARDIOMYOPATHY - DILATED - 1GG - INCLUDED SDHA - GLY555GLU 44 44 THR ALA FAMILIAL ADVANCED SLEEP-PHASE SYNDROME CSNK1D - THR44ALA 382 382 ASN SER NEUTROPENIA - SEVERE CONGENITAL - AUTOSOMAL DOMINANT 2 GFI1 - ASN382SER 403 403 LYS ARG NEUTROPENIA - NONIMMUNE CHRONIC IDIOPATHIC - OF ADULTS GFI1 - LYS403ARG 510 510 GLU GLN LCHAD DEFICIENCY LCHAD DEFICIENCY WITH MATERNAL ACUTE FATTY LIVER OF PREGNANCY - INCLUDED HADHA - GLU510GLN 342 342 LEU PRO LCHAD DEFICIENCY HADHA - LEU342PRO 246 246 VAL ASP TRIFUNCTIONAL PROTEIN DEFICIENCY WITH MYOPATHY AND NEUROPATHY HADHA - VAL246ASP 269 269 ILE ASN TRIFUNCTIONAL PROTEIN DEFICIENCY WITH MYOPATHY AND NEUROPATHY HADHA - ILE269ASN 88 88 PRO SER CATARACT - ZONULAR PULVERULENT 1 GJA8 - PRO88SER 48 48 GLU LYS CATARACT - ZONULAR PULVERULENT 1 GJA8 - GLU48LYS 247 247 ILE MET CATARACT - ZONULAR PULVERULENT 1 GJA8 - ILE247MET 23 23 ARG THR CATARACT - NUCLEAR PROGRESSIVE GJA8 - ARG23THR 44 44 VAL GLU CATARACT-MICROCORNEA SYNDROME GJA8 - VAL44GLU 198 198 ARG GLN CATARACT-MICROCORNEA SYNDROME GJA8 - ARG198GLN 47 47 ASP ASN CATARACT - NUCLEAR PULVERULENT GJA8 - ASP47ASN 151 151 THR ARG MUSCULAR DYSTROPHY - LIMB-GIRDLE - TYPE 2E SGCB - THR151ARG 91 91 ARG PRO MUSCULAR DYSTROPHY - LIMB-GIRDLE - TYPE 2E SGCB - ARG91PRO 108 108 LEU ARG MUSCULAR DYSTROPHY - LIMB-GIRDLE - TYPE 2E SGCB - LEU108ARG 100 100 MET LYS MUSCULAR DYSTROPHY - LIMB-GIRDLE - TYPE 2E SGCB - MET100LYS 91 91 ARG LEU MUSCULAR DYSTROPHY - LIMB-GIRDLE - TYPE 2E SGCB - ARG91LEU 905 905 ASP TYR INSULIN RESISTANCE - SUSCEPTIBILITY TO PPP1R3 - ASP905TYR 99 99 SER ASN MULTIPLE SYNOSTOSES SYNDROME 3 FGF9 - SER99ASN 232 232 GLY ARG VARIEGATE PORPHYRIA PPOX - GLY232ARG 59 59 ARG TRP VARIEGATE PORPHYRIA PPOX - ARG59TRP 168 168 ARG CYS VARIEGATE PORPHYRIA PPOX - ARG168CYS 20 20 HIS PRO VARIEGATE PORPHYRIA PPOX - HIS20PRO 168 168 ARG HIS VARIEGATE PORPHYRIA PPOX - ARG168HIS 349 349 ASP ALA VARIEGATE PORPHYRIA - HOMOZYGOUS PPOX - ASP349ALA 12 12 ILE THR VARIEGATE PORPHYRIA - HOMOZYGOUS PPOX - ILE12THR 256 256 PRO ARG VARIEGATE PORPHYRIA - HOMOZYGOUS PPOX - PRO256ARG 194 194 ARG HIS MYOPATHY - MITOCHONDRIAL PROGRESSIVE - WITH CONGENITAL CATARACT - HEARING LOSS - AND DEVELOPMENTAL DELAY GFER - ARG194HIS 214 214 ARG CYS COLON CANCER - SOMATIC PTPRJ - ARG214CYS 276 276 GLN PRO COLON CANCER - SOMATIC PTPRJ - GLN276PRO 147 147 LEU PRO HYPERINSULINEMIC HYPOGLYCEMIA - FAMILIAL - 2 KCNJ11 - LEU147PRO 201 201 ARG HIS DIABETES MELLITUS - PERMANENT NEONATAL DIABETES MELLITUS - PERMANENT NEONATAL - WITH NEUROLOGIC FEATURES - INCLUDED;; DIABETES MELLITUS - TRANSIENT NEONATAL - 3 - INCLUDED KCNJ11 - ARG201HIS 59 59 VAL MET DIABETES MELLITUS - PERMANENT NEONATAL - WITH NEUROLOGIC FEATURES DIABETES MELLITUS - PERMANENT NEONATAL - INCLUDED KCNJ11 - VAL59MET 201 201 ARG CYS DIABETES MELLITUS - PERMANENT NEONATAL DIABETES MELLITUS - PERMANENT NEONATAL - WITH NEUROLOGIC FEATURES - INCLUDED KCNJ11 - ARG201CYS 59 59 VAL GLY DIABETES MELLITUS - PERMANENT NEONATAL - WITH NEUROLOGIC FEATURES KCNJ11 - VAL59GLY 50 50 ARG PRO DIABETES MELLITUS - PERMANENT NEONATAL KCNJ11 - ARG50PRO 170 170 LYS ARG DIABETES MELLITUS - PERMANENT NEONATAL KCNJ11 - LYS170ARG 170 170 LYS ASN DIABETES MELLITUS - PERMANENT NEONATAL KCNJ11 - LYS170ASN 254 254 PRO LEU HYPERINSULINEMIC HYPOGLYCEMIA - FAMILIAL - 2 KCNJ11 - PRO254LEU 42 42 CYS ARG DIABETES MELLITUS - TRANSIENT NEONATAL - 3 DIABETES MELLITUS - TYPE II - AUTOSOMAL DOMINANT - INCLUDED KCNJ11 - CYS42ARG 259 259 HIS ARG HYPERINSULINEMIC HYPOGLYCEMIA - FAMILIAL - 2 KCNJ11 - HIS259ARG 23 23 GLU LYS DIABETES MELLITUS - NONINSULIN-DEPENDENT - SUSCEPTIBILITY TO EXERCISE STRESS RESPONSE - IMPAIRED - ASSOCIATION WITH - INCLUDED KCNJ11 - GLU23LYS 166 166 CYS PHE DIABETES MELLITUS - PERMANENT NEONATAL - WITH NEUROLOGIC FEATURES KCNJ11 - CYS166PHE 167 167 ILE LEU DIABETES MELLITUS - PERMANENT NEONATAL - WITH NEUROLOGIC FEATURES KCNJ11 - ILE167LEU 53 53 GLY SER DIABETES MELLITUS - TRANSIENT NEONATAL - 3 KCNJ11 - GLY53SER 53 53 GLY ARG DIABETES MELLITUS - TRANSIENT NEONATAL - 3 KCNJ11 - GLY53ARG 301 301 ARG HIS HYPERINSULINEMIC HYPOGLYCEMIA - FAMILIAL - 2 KCNJ11 - ARG301HIS 156 156 GLY ARG HYPERINSULINEMIC HYPOGLYCEMIA - FAMILIAL - 2 KCNJ11 - GLY156ARG 53 53 GLY ASP DIABETES MELLITUS - PERMANENT NEONATAL - WITH NEUROLOGIC FEATURES KCNJ11 - GLY53ASP 282 282 GLU LYS HYPERINSULINEMIC HYPOGLYCEMIA - FAMILIAL - 2 KCNJ11 - GLU282LYS 96 114 PHE SER LARON SYNDROME GHR - PHE96SER 44 62 GLU LYS SHORT STATURE - IDIOPATHIC - AUTOSOMAL GHR - GLU44LYS 161 179 ARG CYS SHORT STATURE - IDIOPATHIC - AUTOSOMAL GHR - ARG161CYS 224 242 GLU ASP SHORT STATURE - IDIOPATHIC - AUTOSOMAL GHR - GLU224ASP 131 149 PRO GLN LARON SYNDROME WITH UNDETECTABLE SERUM GH-BINDING PROTEIN GHR - PRO131GLN 144 162 VAL ILE SHORT STATURE - IDIOPATHIC - AUTOSOMAL GHR - VAL144ILE 152 170 ASP HIS LARON SYNDROME GHR - ASP152HIS 153 171 ILE THR LARON SYNDROME GHR - ILE153THR 154 172 GLN PRO LARON SYNDROME GHR - GLN154PRO 155 173 VAL GLY LARON SYNDROME GHR - VAL155GLY 526 526 LEU ILE HYPERCHOLESTEROLEMIA - FAMILIAL - MODIFICATION OF GHR - LEU526ILE 94 112 CYS SER LARON SYNDROME GHR - CYS94SER 150 168 HIS GLN LARON SYNDROME GHR - HIS150GLN 129 129 ALA THR DELAYED SLEEP PHASE SYNDROME - SUSCEPTIBILITY TO AANAT - ALA129THR 406 406 ARG GLN PERSISTENT MULLERIAN DUCT SYNDROME - TYPE II AMHR2 - ARG406GLN 542 542 GLU GLN CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 4 MYBPC3 - GLU542GLN 59 59 THR ALA CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 4 MYBPC3 - THR59ALA 948 948 ASN THR CARDIOMYOPATHY - DILATED MYBPC3 - ASN948THR 820 820 ARG GLN CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 4 MYBPC3 - ARG820GLN 1125 1125 VAL MET CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 4 MYBPC3 - VAL1125MET 158 158 ALA THR BRANCHIOOTORENAL SYNDROME 2 SIX5 - ALA158THR 296 296 ALA THR BRANCHIOOTORENAL SYNDROME 2 SIX5 - ALA296THR 365 365 GLY ARG BRANCHIOOTORENAL SYNDROME 2 SIX5 - GLY365ARG 552 552 THR MET BRANCHIOOTORENAL SYNDROME 2 SIX5 - THR552MET 850 850 LEU PRO GITELMAN SYNDROME SLC12A3 - LEU850PRO 421 421 CYS ARG GITELMAN SYNDROME SLC12A3 - CYS421ARG 209 209 ARG TRP GITELMAN SYNDROME SLC12A3 - ARG209TRP 655 655 ARG HIS GITELMAN SYNDROME SLC12A3 - ARG655HIS 653 653 ARG LEU GITELMAN SYNDROME SLC12A3 - ARG653LEU 588 588 ALA VAL GITELMAN SYNDROME SLC12A3 - ALA588VAL 349 349 PRO LEU GITELMAN SYNDROME SLC12A3 - PRO349LEU 630 630 GLY VAL GITELMAN SYNDROME SLC12A3 - GLY630VAL 623 623 LEU PRO GITELMAN SYNDROME SLC12A3 - LEU623PRO 871 871 ARG HIS GITELMAN SYNDROME SLC12A3 - THR163MET AND ARG871HIS 163 163 THR MET GITELMAN SYNDROME SLC12A3 - THR163MET AND ARG871HIS 442 442 CYS TYR DEAFNESS - AUTOSOMAL DOMINANT 22 MYO6 - CYS442TYR 216 216 GLU VAL DEAFNESS - AUTOSOMAL RECESSIVE 37 MYO6 - GLU216VAL 246 246 HIS ARG DEAFNESS - SENSORINEURAL - WITH HYPERTROPHIC CARDIOMYOPATHY MYO6 - HIS246ARG 1 1 MET VAL HYPOPHOSPHATEMIC RICKETS - AUTOSOMAL RECESSIVE - 1 DMP1 - MET1VAL 810 810 SER LEU HYPERTENSION - EARLY-ONSET - AUTOSOMAL DOMINANT - WITH EXACERBATION IN PREGNANCY NR3C2 - SER810LEU 924 924 LEU PRO PSEUDOHYPOALDOSTERONISM - TYPE I - AUTOSOMAL DOMINANT NR3C2 - LEU924PRO 776 776 GLN ARG PSEUDOHYPOALDOSTERONISM - TYPE I - AUTOSOMAL DOMINANT NR3C2 - GLN776ARG 633 633 GLY ARG PSEUDOHYPOALDOSTERONISM - TYPE I - AUTOSOMAL DOMINANT NR3C2 - GLY633ARG 979 979 LEU PRO PSEUDOHYPOALDOSTERONISM - TYPE I - AUTOSOMAL DOMINANT NR3C2 - LEU979PRO 181 181 SER LEU PSEUDOHYPOALDOSTERONISM - TYPE I - AUTOSOMAL DOMINANT NR3C1 - SER181LEU 972 972 GLU GLY PSEUDOHYPOALDOSTERONISM - TYPE I - AUTOSOMAL DOMINANT NR3C1 - GLU972GLY 1195 1195 VAL MET EHLERS-DANLOS SYNDROME - HYPERMOBILITY TYPE TNXB - VAL1195MET 1195 1195 VAL MET EHLERS-DANLOS SYNDROME - HYPERMOBILITY TYPE TNXB - VAL1195MET 493 493 ASP HIS PANCREATIC CARCINOMA - SOMATIC SMAD4 - ASP493HIS 361 361 ARG CYS JUVENILE POLYPOSIS SYNDROME JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME - INCLUDED SMAD4 - ARG361CYS 386 386 GLY ASP JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME SMAD4 - GLY386ASP 352 352 GLY ARG JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME SMAD4 - GLY352ARG 279 434 ALA SER PROSTATE CANCER - PROGRESSION AND METASTASIS OF EPHB2 - ALA279SER 679 834 ASP ASN PROSTATE CANCER - PROGRESSION AND METASTASIS OF EPHB2 - ASP679ASN 164 164 ARG GLN GLUTATHIONE SYNTHETASE DEFICIENCY GSS - ARG164GLN 267 267 ARG TRP GLUTATHIONE SYNTHETASE DEFICIENCY GSS - ARG267TRP 283 283 ARG CYS GLUTATHIONE SYNTHETASE DEFICIENCY GSS - ARG283CYS 125 125 ARG CYS GLUTATHIONE SYNTHETASE DEFICIENCY GSS - ARG125CYS 314 314 PRO LEU GLUTATHIONE SYNTHETASE DEFICIENCY GSS - PRO314LEU AND 6-BP DEL - NT1137 219 219 ASP GLY GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES - HEMOLYTIC ANEMIA DUE TO GSS - ASP219GLY 223 223 GLN ARG LEPTIN RECEPTOR POLYMORPHISM LEPR - GLN223ARG 109 109 LYS ARG LEPTIN RECEPTOR POLYMORPHISM LEPR - LYS109ARG 656 656 LYS ASN LEPTIN RECEPTOR POLYMORPHISM LEPR - LYS656ASN 192 192 ARG GLN MIGRAINE - FAMILIAL HEMIPLEGIC - 1 CACNA1A - ARG192GLN 666 666 THR MET MIGRAINE - FAMILIAL HEMIPLEGIC - 1 MIGRAINE - FAMILIAL HEMIPLEGIC 1 - WITH PROGRESSIVE CEREBELLAR ATAXIA - INCLUDED;; MIGRAINE - SPORADIC HEMIPLEGIC - WITH PROGRESSIVE CEREBELLAR ATAXIA - INCLUDED CACNA1A - THR666MET 714 714 VAL ALA MIGRAINE - FAMILIAL HEMIPLEGIC - 1 CACNA1A - VAL714ALA 1811 1811 ILE LEU MIGRAINE - FAMILIAL HEMIPLEGIC - 1 CACNA1A - ILE1811LEU 293 293 GLY ARG SPINOCEREBELLAR ATAXIA 6 EPISODIC ATAXIA - TYPE 2 - INCLUDED CACNA1A - GLY293ARG 715 715 ASP GLU MIGRAINE - FAMILIAL HEMIPLEGIC 1 - WITH PROGRESSIVE CEREBELLAR ATAXIA MIGRAINE - FAMILIAL HEMIPLEGIC - 1 - INCLUDED CACNA1A - ASP715GLU 1666 1666 ARG HIS EPISODIC ATAXIA - TYPE 2 CACNA1A - ARG1666HIS 1491 1491 PHE SER EPISODIC ATAXIA - TYPE 2 CACNA1A - PHE1491SER 1385 1385 TYR CYS MIGRAINE - FAMILIAL HEMIPLEGIC - 1 CACNA1A - TYR1385CYS 1757 1757 GLU LYS EPISODIC ATAXIA - TYPE 2 CACNA1A - GLU1757LYS 218 218 SER LEU MIGRAINE - FAMILIAL HEMIPLEGIC 1 - WITH PROGRESSIVE CEREBELLAR ATAXIA CACNA1A - SER218LEU 583 583 ARG GLN MIGRAINE - FAMILIAL HEMIPLEGIC - 1 MIGRAINE - FAMILIAL HEMIPLEGIC 1 - WITH PROGRESSIVE CEREBELLAR ATAXIA - INCLUDED;; MIGRAINE - SPORADIC HEMIPLEGIC - INCLUDED;; SPINOCEREBELLAR ATAXIA 6 - INCLUDED CACNA1A - ARG583GLN 1457 1457 VAL LEU MIGRAINE - FAMILIAL HEMIPLEGIC - 1 CACNA1A - VAL1457LEU 1406 1406 PHE CYS EPISODIC ATAXIA - TYPE 2 CACNA1A - PHE1406CYS 1710 1710 ILE THR MIGRAINE - FAMILIAL HEMIPLEGIC - 1 SPINOCEREBELLAR ATAXIA 6 - INCLUDED CACNA1A - ILE1710THR 287 287 CYS TYR EPISODIC ATAXIA - TYPE 2 CACNA1A - CYS287TYR 1347 1347 ARG GLN MIGRAINE - FAMILIAL HEMIPLEGIC - 1 CACNA1A - ARG1347GLN 67 67 SER PRO NIEMANN-PICK DISEASE - TYPE C2 NPC2 - SER67PRO 39 39 VAL MET NIEMANN-PICK DISEASE - TYPE C2 NPC2 - VAL39MET 120 120 PRO SER NIEMANN-PICK DISEASE - TYPE C2 NPC2 - PRO120SER 390 390 ALA VAL LONG QT SYNDROME 12 SNTA1 - ALA390VAL 155 155 ARG HIS INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA VCP - ARG155HIS 155 155 ARG CYS INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA VCP - ARG155CYS 232 232 ALA GLU INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA VCP - ALA232GLU 95 95 ARG GLY INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA VCP - ARG95GLY 155 155 ARG PRO INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA VCP - ARG155PRO 191 191 ARG GLN INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA VCP - ARG191GLN 159 159 ARG HIS INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA VCP - ARG159HIS 297 297 PRO SER HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6 SCARB1 - PRO297SER 329 329 ARG HIS CHARCOT-MARIE-TOOTH DISEASE - AXONAL - TYPE 2N AARS - ARG329HIS 131 131 SER LEU RIEGER ANOMALY FOXC1 - SER131LEU 126 126 ILE MET AXENFELD ANOMALY FOXC1 - ILE126MET 112 112 PHE SER RIEGER ANOMALY AXENFELD ANOMALY - INCLUDED;; AXENFELD-RIEGER SYNDROME - TYPE 3 - INCLUDED;; PETERS ANOMALY - INCLUDED FOXC1 - PHE112SER 82 82 SER THR AXENFELD-RIEGER SYNDROME - TYPE 3 FOXC1 - SER82THR 87 87 ILE MET AXENFELD-RIEGER ANOMALY FOXC1 - ILE87MET 130 130 LEU PHE AXENFELD-RIEGER SYNDROME - TYPE 3 FOXC1 - LEU130PHE 258 258 GLY GLU ENLARGED VESTIBULAR AQUEDUCT - DIGENIC FOXI1 - GLY258GLU 267 267 ARG GLN ENLARGED VESTIBULAR AQUEDUCT PENDRED SYNDROME - INCLUDED FOXI1 - ARG267GLN 16 16 LEU PRO CHARCOT-MARIE-TOOTH DISEASE - TYPE 1A PMP22 - LEU16PRO 79 79 SER CYS CHARCOT-MARIE-TOOTH DISEASE - TYPE 1A PMP22 - SER79CYS 118 118 THR MET CHARCOT-MARIE-TOOTH DISEASE - TYPE 1A - AUTOSOMAL RECESSIVE NEUROPATHY - HEREDITARY - WITH LIABILITY TO PRESSURE PALSIES - INCLUDED PMP22 - THR118MET 69 69 MET LYS DEJERINE-SOTTAS SYNDROME - AUTOSOMAL DOMINANT PMP22 - MET69LYS 72 72 SER LEU DEJERINE-SOTTAS SYNDROME - AUTOSOMAL DOMINANT PMP22 - SER72LEU 12 12 HIS GLN DEJERINE-SOTTAS SYNDROME - AUTOSOMAL DOMINANT PMP22 - HIS12GLN 67 67 ALA PRO CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS PMP22 - ALA67PRO 150 150 GLY CYS DEJERINE-SOTTAS SYNDROME - AUTOSOMAL DOMINANT PMP22 - GLY150CYS 28 28 TRP ARG CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS PMP22 - TRP28ARG 37 37 ASP VAL CHARCOT-MARIE-TOOTH DISEASE - TYPE 1A - WITH FOCALLY FOLDED MYELIN SHEATHS PMP22 - ASP37VAL 67 67 ALA THR NEUROPATHY - HEREDITARY - WITH LIABILITY TO PRESSURE PALSIES PMP22 - ALA67THR 157 157 ARG TRP DEJERINE-SOTTAS SYNDROME - AUTOSOMAL RECESSIVE PMP22 - ARG157TRP 22 22 SER PHE NEUROPATHY - HEREDITARY - WITH LIABILITY TO PRESSURE PALSIES CHARCOT-MARIE-TOOTH DISEASE - TYPE 1A - INCLUDED PMP22 - SER22PHE 146 146 GLY ARG PYCNODYSOSTOSIS CTSK - GLY146ARG 277 277 ALA VAL PYCNODYSOSTOSIS CTSK - ALA277VAL 79 79 GLY GLU PYCNODYSOSTOSIS CTSK - GLY79GLU 309 309 LEU PRO PYCNODYSOSTOSIS CTSK - LEU309PRO 768 768 ARG TRP DUBIN-JOHNSON SYNDROME ABCC2 - ARG768TRP 1382 1382 GLN ARG DUBIN-JOHNSON SYNDROME ABCC2 - GLN1382ARG 1173 1173 ILE PHE DUBIN-JOHNSON SYNDROME ABCC2 - ILE1173PHE 1150 1150 ARG HIS DUBIN-JOHNSON SYNDROME ABCC2 - ARG1150HIS 359 359 ILE LEU TOLBUTAMIDE POOR METABOLIZER WARFARIN SENSITIVITY - INCLUDED;; PHENYTOIN POOR METABOLIZER - INCLUDED;; GLIPIZIDE POOR METABOLIZER - INCLUDED CYP2C9 - ILE359LEU (dbSNP rs1057910) 144 144 ARG CYS WARFARIN SENSITIVITY CYP2C9 - ARG144CYS (dbSNP rs1799853) 208 208 LEU VAL WARFARIN SENSITIVITY CYP2C9 - LEU208VAL 59 59 GLY SER NEURONOPATHY - DISTAL HEREDITARY MOTOR - TYPE VIIB DCTN1 - GLY59SER 1249 1249 THR ILE AMYOTROPHIC LATERAL SCLEROSIS - SUSCEPTIBILITY TO DCTN1 - THR1249ILE 571 571 MET THR AMYOTROPHIC LATERAL SCLEROSIS - SUSCEPTIBILITY TO DCTN1 - MET571THR 785 785 ARG TRP AMYOTROPHIC LATERAL SCLEROSIS - SUSCEPTIBILITY TO DCTN1 - ARG785TRP 1101 1101 ARG LYS AMYOTROPHIC LATERAL SCLEROSIS - SUSCEPTIBILITY TO DCTN1 - ARG1101LYS 71 71 GLY ARG PERRY SYNDROME DCTN1 - GLY71ARG 74 74 GLN PRO PERRY SYNDROME DCTN1 - GLN74PRO 4 4 GLY ARG MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG CSTB - GLY4ARG 71 71 GLN PRO MYCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG CSTB - GLN71PRO 400 400 CYS TYR CHONDRODYSPLASIA - GREBE TYPE GDF5 - CYS400TYR 441 441 LEU PRO FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY BRACHYDACTYLY - TYPE A2 - INCLUDED GDF5 - LEU441PRO 173 173 MET VAL BRACHYDACTYLY - TYPE C GDF5 - MET173VAL 438 438 ARG LEU SYMPHALANGISM - PROXIMAL MULTIPLE SYNOSTOSES SYNDROME 2 - INCLUDED GDF5 - ARG438LEU 440 440 HIS LEU FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY GDF5 - 3-BP DEL - 1309TTG - SER439THR - AND HIS440LEU 439 439 SER THR FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY GDF5 - 3-BP DEL - 1309TTG - SER439THR - AND HIS440LEU 475 475 SER ASN MULTIPLE SYNOSTOSES SYNDROME 2 GDF5 - SER475ASN 491 491 GLU LYS SYMPHALANGISM - PROXIMAL GDF5 - GLU491LYS 373 373 LEU ARG SYMPHALANGISM - PROXIMAL GDF5 - LEU373ARG 378 378 ARG GLN FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY GDF5 - ARG378GLN 436 436 PRO THR FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY GDF5 - PRO436THR 249 249 ALA GLU KLIPPEL-FEIL SYNDROME 1 - AUTOSOMAL DOMINANT MICROPHTHALMIA - ISOLATED 4 - INCLUDED GDF6 - ALA249GLU 289 289 LEU PRO KLIPPEL-FEIL SYNDROME 1 - AUTOSOMAL DOMINANT GDF6 - LEU289PRO 242 242 LYS ARG KLIPPEL-FEIL SYNDROME 1 - AUTOSOMAL DOMINANT GDF6 - LYS242ARG 42 42 GLY VAL KLIPPEL-FEIL SYNDROME 1 - AUTOSOMAL DOMINANT GDF6 - GLY42VAL 253 253 GLN LEU MICROPHTHALMIA - ISOLATED 4 GDF6 - GLN253LEU 327 327 PRO HIS MICROPHTHALMIA - ISOLATED 4 GDF6 - PRO327HIS 199 199 ALA THR MICROPHTHALMIA - ISOLATED - WITH COLOBOMA 6 GDF6 - ALA199THR 585 585 THR MET ENCEPHALOPATHY - ACUTE NECROTIZING 1 - SUSCEPTIBILITY TO RANBP2 - THR585MET 653 653 THR ILE ENCEPHALOPATHY - ACUTE NECROTIZING 1 - SUSCEPTIBILITY TO RANBP2 - THR653ILE 656 656 ILE VAL ENCEPHALOPATHY - ACUTE NECROTIZING 1 - SUSCEPTIBILITY TO RANBP2 - ILE656VAL 602 679 ILE SER LEPROSY - PROTECTION AGAINST TLR1 - ILE602SER 248 325 ASN SER LEPROSY - SUSCEPTIBILITY TO - 5 TLR1 - ASN248SER 796 796 ARG TRP HYPOCALCIURIC HYPERCALCEMIA - FAMILIAL CASR - ARG796TRP 298 298 GLU LYS HYPOCALCIURIC HYPERCALCEMIA - FAMILIAL HYPERPARATHYROIDISM - NEONATAL SEVERE - INCLUDED CASR - GLU298LYS 185 185 ARG GLN HYPOCALCIURIC HYPERCALCEMIA - FAMILIAL HYPERPARATHYROIDISM - NEONATAL SEVERE - INCLUDED CASR - ARG185GLN 128 128 GLU ALA HYPOPARATHYROIDISM - FAMILIAL ISOLATED CASR - GLU128ALA 227 227 ARG LEU HYPERPARATHYROIDISM - NEONATAL SEVERE PRIMARY CASR - ARG227LEU 582 582 CYS TYR HYPERPARATHYROIDISM - NEONATAL SEVERE PRIMARY CASR - CYS582TYR 681 681 GLU HIS HYPOPARATHYROIDISM - FAMILIAL ISOLATED CASR - GLU681HIS 116 116 ALA THR HYPOPARATHYROIDISM - FAMILIAL ISOLATED CASR - ALA116THR 806 806 PHE SER HYPOPARATHYROIDISM - FAMILIAL ISOLATED CASR - PHE806SER 151 151 THR MET HYPOPARATHYROIDISM - FAMILIAL ISOLATED CASR - THR151MET 118 118 ASN LYS HYPOPARATHYROIDISM - FAMILIAL ISOLATED HYPOPARATHYROIDISM - SPORADIC - INCLUDED CASR - ASN118LYS 128 128 PHE LEU HYPOPARATHYROIDISM - FAMILIAL ISOLATED CASR - PHE128LEU 191 191 GLU LYS HYPOPARATHYROIDISM - FAMILIAL ISOLATED CASR - GLU191LYS 612 612 PHE SER HYPOPARATHYROIDISM - FAMILIAL ISOLATED CASR - PHE612SER 773 773 LEU ARG HYPOPARATHYROIDISM - SPORADIC CASR - LEU773ARG 670 670 GLY GLU HYPERPARATHYROIDISM - NEONATAL SEVERE PRIMARY CASR - GLY670GLU 40 40 PRO ALA HYPOCALCIURIC HYPERCALCEMIA - FAMILIAL CASR - PRO40ALA 228 228 ARG GLN HYPOCALCIURIC HYPERCALCEMIA - FAMILIAL CASR - ARG228GLN 139 139 THR MET HYPOCALCIURIC HYPERCALCEMIA - FAMILIAL CASR - THR139MET 144 144 GLY GLU HYPOCALCIURIC HYPERCALCEMIA - FAMILIAL CASR - GLY144GLU 63 63 ARG MET HYPOCALCIURIC HYPERCALCEMIA - FAMILIAL CASR - ARG63MET 67 67 ARG CYS HYPOCALCIURIC HYPERCALCEMIA - FAMILIAL CASR - ARG67CYS 788 788 PHE CYS HYPOPARATHYROIDISM - FAMILIAL ISOLATED CASR - PHE788CYS 47 47 LYS ASN HYPOCALCEMIA - AUTOSOMAL DOMINANT CASR - LYS47ASN 616 616 LEU VAL HYPOPARATHYROIDISM - FAMILIAL CASR - LEU616VAL 881 881 PHE LEU HYPERCALCIURIC HYPERCALCEMIA CASR - PHE881LEU 843 843 ALA GLU HYPOCALCEMIA - AUTOSOMAL DOMINANT - WITH BARTTER SYNDROME HYPOPARATHYROIDISM - FAMILIAL ISOLATED - INCLUDED CASR - ALA843GLU 141 141 CYS TRP HYPOCALCEMIA - AUTOSOMAL DOMINANT - WITH BARTTER SYNDROME CASR - CYS141TRP 125 125 LEU PRO HYPERCALCIURIC HYPOCALCEMIA - FAMILIAL CASR - LEU125PRO 820 820 SER PHE HYPOPARATHYROIDISM - FAMILIAL ISOLATED CASR - SER820PHE 788 788 PHE LEU HYPOPARATHYROIDISM - FAMILIAL ISOLATED CASR - PHE788LEU 986 986 ALA SER CALCIUM - SERUM LEVEL OF CASR - ALA986SER 604 604 GLU LYS HYPOPARATHYROIDISM - FAMILIAL ISOLATED CASR - GLU604LYS 465 465 ARG GLN HYPOCALCIURIC HYPERCALCEMIA - FAMILIAL CASR - ARG465GLN 13 13 LEU PRO HYPOCALCIURIC HYPERCALCEMIA - FAMILIAL CASR - LEU13PRO 727 727 LEU GLN HYPOPARATHYROIDISM - FAMILIAL ISOLATED CASR - LEU727GLN 180 180 PHE CYS HYPOCALCIURIC HYPERCALCEMIA - FAMILIAL CASR - PHE180CYS 582 582 CYS PHE HYPOCALCIURIC HYPERCALCEMIA - FAMILIAL CASR - CYS582PHE 553 553 GLY ARG HYPOCALCIURIC HYPERCALCEMIA - FAMILIAL CASR - GLY553ARG 227 227 ARG GLN HYPOCALCIURIC HYPERCALCEMIA - FAMILIAL CASR - ARG227GLN 898 898 ARG GLN EPILEPSY - IDIOPATHIC GENERALIZED - SUSCEPTIBILITY TO - 8 CASR - ARG898GLN 129 129 TYR CYS BRANCHIOOTIC SYNDROME 3 SIX1 - TYR129CYS 110 110 ARG TRP BRANCHIOOTIC SYNDROME 3 SIX1 - ARG110TRP 122 122 TRP ARG BRANCHIOOTIC SYNDROME 3 SIX1 - TRP122ARG 121 121 PRO LEU LEFT VENTRICULAR NONCOMPACTION 1 DTNA - PRO121LEU 20 20 TRP SER GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY GAMT - TRP20SER 169 169 CYS TYR GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY GAMT - CYS169TYR 50 50 MET LEU GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY GAMT - MET50LEU 35 35 LYS ASN MYOPATHY - CENTRONUCLEAR - AUTOSOMAL RECESSIVE BIN1 - LYS35ASN 151 151 ASP ASN MYOPATHY - CENTRONUCLEAR - AUTOSOMAL RECESSIVE BIN1 - ASP151ASN 154 154 ARG GLN MYOPATHY - CENTRONUCLEAR - AUTOSOMAL RECESSIVE BIN1 - ARG154GLN 105 105 PRO LEU MUSCULAR DYSTROPHY - LIMB-GIRDLE - TYPE 1C RIPPLING MUSCLE DISEASE 2 - INCLUDED CAV3 - PRO105LEU 56 56 GLY SER MUSCULAR DYSTROPHY - LIMB-GIRDLE - TYPE 1C - AUTOSOMAL RECESSIVE CAV3 - GLY56SER 72 72 CYS TRP MUSCULAR DYSTROPHY - LIMB-GIRDLE - TYPE 1C CAV3 - CYS72TRP 46 46 ALA THR MUSCULAR DYSTROPHY - LIMB-GIRDLE - TYPE 1C RIPPLING MUSCLE DISEASE 2 - INCLUDED;; CREATINE PHOSPHOKINASE - ELEVATED SERUM - INCLUDED CAV3 - ALA46THR 46 46 ALA VAL RIPPLING MUSCLE DISEASE 2 CAV3 - ALA46VAL 27 27 ARG GLN RIPPLING MUSCLE DISEASE 2 CREATINE PHOSPHOKINASE - ELEVATED SERUM - INCLUDED;; MUSCULAR DYSTROPHY - LIMB-GIRDLE - TYPE 1C - INCLUDED;; MYOPATHY - DISTAL - WITH DECREASED CAVEOLIN 3 - INCLUDED CAV3 - ARG27GLN 28 28 ASP GLU RIPPLING MUSCLE DISEASE 2 MUSCULAR DYSTROPHY - LIMB-GIRDLE - TYPE 1C - INCLUDED CAV3 - ASP28GLU 87 87 LEU PRO RIPPLING MUSCLE DISEASE 2 CAV3 - LEU87PRO 93 93 ALA THR RIPPLING MUSCLE DISEASE 2 - AUTOSOMAL RECESSIVE CAV3 - ALA93THR 29 29 PRO LEU CREATINE PHOSPHOKINASE - ELEVATED SERUM CAV3 - PRO29LEU 64 64 THR SER CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC CAV3 - THR64SER 33 33 ASN LYS MYOPATHY - DISTAL - WITH DECREASED CAVEOLIN 3 CAV3 - ASN33LYS 47 47 GLU LYS RIPPLING MUSCLE DISEASE 2 CAV3 - GLU47LYS 141 141 SER ARG LONG QT SYNDROME 9 CAV3 - SER141ARG 97 97 PHE CYS LONG QT SYNDROME 9 - ACQUIRED - SUSCEPTIBILITY TO CAV3 - PHE97CYS 78 78 THR MET LONG QT SYNDROME 9 LONG QT SYNDROME 2/9 - DIGENIC - INCLUDED CAV3 - THR78MET 85 85 ALA THR LONG QT SYNDROME 9 CAV3 - ALA85THR 14 14 VAL LEU LONG QT SYNDROME 9 CAV3 - VAL14LEU 79 79 LEU ARG LONG QT SYNDROME 9 CAV3 - LEU79ARG 57 57 PHE CYS CARDIOFACIOCUTANEOUS SYNDROME MAP2K2 - PHE57CYS 57 57 PHE VAL CARDIOFACIOCUTANEOUS SYNDROME MAP2K2 - PHE57VAL 134 134 TYR HIS CARDIOFACIOCUTANEOUS SYNDROME MAP2K2 - TYR134HIS 128 128 PRO GLN CARDIOFACIOCUTANEOUS SYNDROME MAP2K2 - PRO128GLN 183 183 ARG GLN HETEROTAXY - VISCERAL - 5 - AUTOSOMAL NODAL - ARG183GLN 260 260 GLY ARG HETEROTAXY - VISCERAL - 5 - AUTOSOMAL NODAL - GLY260ARG 64 64 VAL ILE HUMAN IMMUNODEFICIENCY VIRUS TYPE 1 - RESISTANCE TO CCR2 - VAL64ILE 2110 2110 ARG TRP EPIDERMOLYSIS BULLOSA SIMPLEX - OGNA TYPE PLEC1 - ARG2110TRP 411 411 ARG GLN TELANGIECTASIA - HEREDITARY HEMORRHAGIC - TYPE 2 PULMONARY ARTERIAL HYPERTENSION - HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED - INCLUDED ACVRL1 - ARG411GLN 376 376 MET ARG TELANGIECTASIA - HEREDITARY HEMORRHAGIC - TYPE 2 ACVRL1 - MET376ARG 150 150 TRP CYS TELANGIECTASIA - HEREDITARY HEMORRHAGIC - TYPE 2 ACVRL1 - TRP150CYS 49 49 ALA PRO TELANGIECTASIA - HEREDITARY HEMORRHAGIC - TYPE 2 ACVRL1 - GLY48GLU - ALA49PRO 48 48 GLY GLU TELANGIECTASIA - HEREDITARY HEMORRHAGIC - TYPE 2 ACVRL1 - GLY48GLU - ALA49PRO 398 398 ILE ASN TELANGIECTASIA - HEREDITARY HEMORRHAGIC - TYPE 2 ACVRL1 - ILE398ASN 374 374 ARG TRP TELANGIECTASIA - HEREDITARY HEMORRHAGIC - TYPE 2 PULMONARY ARTERIAL HYPERTENSION - HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED - INCLUDED ACVRL1 - ARG374TRP 411 411 ARG TRP TELANGIECTASIA - HEREDITARY HEMORRHAGIC - TYPE 2 PULMONARY ARTERIAL HYPERTENSION - HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED - INCLUDED ACVRL1 - ARG411TRP 484 484 ARG TRP TELANGIECTASIA - HEREDITARY HEMORRHAGIC - TYPE 2 PULMONARY ARTERIAL HYPERTENSION - HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED - INCLUDED ACVRL1 - ARG484TRP 211 211 GLY ASP PULMONARY ARTERIAL HYPERTENSION - HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED ACVRL1 - GLY211ASP 344 344 CYS TYR TELANGIECTASIA - HEREDITARY HEMORRHAGIC - TYPE 2 PULMONARY ARTERIAL HYPERTENSION - HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED - INCLUDED ACVRL1 - CYS344TYR 399 399 TRP SER PULMONARY ARTERIAL HYPERTENSION - HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED ACVRL1 - TRP399SER 411 411 ARG PRO TELANGIECTASIA - HEREDITARY HEMORRHAGIC - TYPE II ACVRL1 - ARG411PRO 262 262 THR MET BILE ACID MALABSORPTION - PRIMARY SLC10A2 - LEU243PRO AND THR262MET 243 243 LEU PRO BILE ACID MALABSORPTION - PRIMARY SLC10A2 - LEU243PRO AND THR262MET 790 790 VAL MET MYASTHENIC SYNDROME - CONGENITAL - ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY MUSK - VAL790MET 344 344 PRO ARG MYASTHENIC SYNDROME - CONGENITAL - ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY MUSK - PRO344ARG 338 338 ALA ASP JUVENILE POLYPOSIS SYNDROME BMPR1A - ALA338ASP 124 124 CYS ARG JUVENILE POLYPOSIS SYNDROME BMPR1A - CYS124ARG 376 376 CYS TYR JUVENILE POLYPOSIS SYNDROME BMPR1A - CYS376TYR 470 470 MET THR JUVENILE POLYPOSIS SYNDROME BMPR1A - MET470THR 393 393 ALA THR HOLOPROSENCEPHALY 7 PTCH1 - ALA393THR 728 728 THR MET HOLOPROSENCEPHALY 7 PTCH1 - THR728MET 827 827 SER GLY HOLOPROSENCEPHALY 7 PTCH1 - SER827GLY 1052 1052 THR MET HOLOPROSENCEPHALY 7 PTCH1 - THR1052MET 908 908 VAL GLY HOLOPROSENCEPHALY 7 PTCH1 - VAL908GLY 324 324 ARG LEU POLYCYSTIC KIDNEY DISEASE 1 PKD1 - ARG324LEU 845 845 LEU SER POLYCYSTIC KIDNEY DISEASE 1 PKD1 - LEU845SER 486 486 ARG THR CONGENITAL DISORDER OF GLYCOSYLATION - TYPE IIb GCS1 - ARG486THR 652 652 PHE LEU CONGENITAL DISORDER OF GLYCOSYLATION - TYPE IIb GCS1 - PHE652LEU 223 223 ARG GLN CCR5 POLYMORPHISM - ORIENTAL 2 CCR5 - ARG223GLN 335 335 ALA VAL CCR5 POLYMORPHISM - AFRICAN-AMERICAN CCR5 - ALA335VAL 60 60 ARG SER HUMAN IMMUNODEFICIENCY VIRUS TYPE 1 - RESISTANCE TO CCR5 - ARG60SER 254 254 ARG TRP PANCREATITIS - CHRONIC - SUSCEPTIBILITY TO CTRC - ARG254TRP 262 261 GLU LYS MUSCULAR DYSTROPHY - LIMB-GIRDLE - TYPE 2F SGCD - GLU262LYS 151 150 SER ALA CARDIOMYOPATHY - DILATED - 1L MUSCULAR DYSTROPHY - LIMB-GIRDLE - TYPE 2F - DIGENIC - INCLUDED SGCD - SER151ALA 131 130 ALA PRO MUSCULAR DYSTROPHY - LIMB-GIRDLE - TYPE 2F SGCD - ALA131PRO 133 133 LEU HIS CHARCOT-MARIE-TOOTH DISEASE - RECESSIVE INTERMEDIATE - B KARS - LEU133HIS 456 456 CYS PHE SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY OXCT1 - CYS456PHE 133 133 VAL GLU SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY OXCT1 - THR58MET - VAL133GLU 58 58 THR MET SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY OXCT1 - THR58MET - VAL133GLU 324 324 GLY GLU SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY OXCT1 - GLY324GLU 219 219 GLY GLU SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY OXCT1 - GLY219GLU 221 221 VAL MET SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY OXCT1 - VAL221MET 1513 1513 ALA THR CARDIOMYOPATHY - DILATED - 1O ABCC9 - ALA1513THR 35 35 ALA THR NEMALINE MYOPATHY 7 CFL2 - ALA35THR 142 142 ARG LYS MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) DGUOK - ARG142LYS 227 227 GLU LYS MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) DGUOK - GLU227LYS 255 255 ASP TYR MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) DGUOK - ASP255TYR 249 249 VAL ILE HUMAN IMMUNODEFICIENCY VIRUS TYPE 1 - RAPID PROGRESSION TO AIDS CORONARY ARTERY DISEASE - RESISTANCE TO - INCLUDED;; MACULAR DEGENERATION - AGE-RELATED - SUSCEPTIBILITY TO - INCLUDED CX3CR1 - VAL249ILE/THR280MET 306 306 VAL MET DEAFNESS - AUTOSOMAL DOMINANT - DUE TO MUTATION IN MYO1A MYO1A - VAL306MET 385 385 GLU ASP DEAFNESS - AUTOSOMAL DOMINANT - DUE TO MUTATION IN MYO1A MYO1A - GLU385ASP 662 662 GLY GLU DEAFNESS - AUTOSOMAL DOMINANT - DUE TO MUTATION IN MYO1A MYO1A - GLY662GLU 910 910 SER PRO DEAFNESS - AUTOSOMAL DOMINANT - DUE TO MUTATION IN MYO1A MYO1A - SER910PRO 54 54 THR ALA SPERMATOGENIC FAILURE - SUSCEPTIBILITY TO DAZL - THR54ALA 115 115 PRO GLN OBESITY - SEVERE PPARG - PRO115GLN 12 40 PRO ALA DIABETES MELLITUS - NONINSULIN-DEPENDENT - MODIFIER OF OBESITY - MODIFIER OF - INCLUDED;; BODY MASS INDEX - MODIFIER OF - INCLUDED;; INTIMAL MEDIAL THICKNESS OF INTERNAL CAROTID ARTERY - MODIFIER OF - INCLUDED PPARG2 - PRO12ALA 286 314 GLN PRO COLON CANCER - SOMATIC PPARG - GLN286PRO 288 316 ARG HIS COLON CANCER - SOMATIC PPARG - ARG288HIS 467 495 PRO LEU LIPODYSTROPHY - FAMILIAL PARTIAL - TYPE 3 PPARG - PRO467LEU 290 318 VAL MET LIPODYSTROPHY - FAMILIAL PARTIAL - TYPE 3 PPARG - VAL290MET 449 477 HIS HIS GLIOMA SUSCEPTIBILITY 1 PPARG - HIS449HIS 388 388 PHE LEU LIPODYSTROPHY - FAMILIAL PARTIAL - TYPE 3 PPARG - PHE388LEU 425 425 ARG CYS LIPODYSTROPHY - FAMILIAL PARTIAL - TYPE 3 PPARG - ARG425CYS 190 190 CYS SER LIPODYSTROPHY - FAMILIAL PARTIAL - TYPE 3 PPARG - CYS190SER 194 194 ARG TRP LIPODYSTROPHY - FAMILIAL PARTIAL - TYPE 3 PPARG - ARG194TRP 540 540 CYS ARG ACID-LABILE SUBUNIT DEFICIENCY IGFALS - CYS540ARG 535 535 TRP LEU BASAL CELL CARCINOMA - SPORADIC SMOH - TRP535LEU 562 562 ARG GLN BASAL CELL CARCINOMA - SPORADIC SMOH - ARG562GLN 145 145 PHE SER SPINOCEREBELLAR ATAXIA 27 FGF14 - PHE145SER 392 392 PRO LEU PAGET DISEASE OF BONE SQSTM1 - PRO392LEU 120 120 ARG CYS PITUITARY HORMONE DEFICIENCY - COMBINED - 2 PROP1 - ARG120CYS 117 117 PHE ILE PITUITARY HORMONE DEFICIENCY - COMBINED - 2 PROP1 - PHE117ILE 88 88 PHE SER PITUITARY HORMONE DEFICIENCY - COMBINED - 2 PROP1 - PHE88SER 73 73 ARG HIS PITUITARY HORMONE DEFICIENCY - COMBINED - 2 PROP1 - ARG73HIS 73 73 ARG CYS PITUITARY HORMONE DEFICIENCY - COMBINED - 2 PROP1 - ARG73CYS 99 99 ARG GLU PITUITARY HORMONE DEFICIENCY - COMBINED - 2 PROP1 - ARG99GLU 54 100 LEU GLN AXENFELD-RIEGER SYNDROME - TYPE 1 PITX2 - LEU54GLN 68 114 THR PRO AXENFELD-RIEGER SYNDROME - TYPE 1 PITX2 - THR68PRO 91 137 ARG PRO AXENFELD-RIEGER SYNDROME - TYPE 1 PITX2 - ARG91PRO 46 46 ARG TRP IRIDOGONIODYSGENESIS - TYPE 2 PITX2 - ARG46TRP 70 70 ARG HIS IRIDOGONIODYSGENESIS - TYPE 2 PITX2 - ARG70HIS 45 45 VAL LEU AXENFELD-RIEGER SYNDROME - TYPE 1 PITX2 - VAL45LEU 62 108 ARG HIS RING DERMOID OF CORNEA PITX2 - ARG62HIS 88 134 LYS GLU AXENFELD-RIEGER SYNDROME - TYPE 1 PITX2 - LYS88GLU 149 149 HIS ARG LISSENCEPHALY 1 PAFAH1B1 - HIS149ARG 169 169 SER PRO SUBCORTICAL LAMINAR HETEROTOPIA PAFAH1B1 - SER169PRO 317 317 ASP HIS LISSENCEPHALY 1 PAFAH1B1 - ASP317HIS 31 31 PHE SER LISSENCEPHALY 1 PAFAH1B1 - PHE31SER 162 162 GLY SER LISSENCEPHALY 1 PAFAH1B1 - GLY162SER 241 241 ARG PRO SUBCORTICAL LAMINAR HETEROTOPIA PAFAH1B1 - ARG241PRO 277 277 HIS PRO LISSENCEPHALY 1 PAFAH1B1 - HIS277PRO 345 345 ARG TRP MALATTIA LEVENTINESE DOYNE HONEYCOMB RETINAL DYSTROPHY - INCLUDED EFEMP1 - ARG345TRP 191 191 GLY ARG PANCREATITIS - CHRONIC - PROTECTION AGAINST PRSS2 - GLY191ARG 215 358 CYS SER SQUAMOUS CELL CARCINOMA - HEAD AND NECK ING1 - CYS215SER 216 359 ASN SER SQUAMOUS CELL CARCINOMA - HEAD AND NECK ING1 - ASN216SER 192 335 ALA ASP SQUAMOUS CELL CARCINOMA - HEAD AND NECK ING1 - ALA192ASP 1 1 MET THR FACTOR V AND FACTOR VIII - COMBINED DEFICIENCY OF - 1 LMAN1 - MET1THR 292 292 ARG CYS ULNA AND FIBULA - ABSENCE OF - WITH SEVERE LIMB DEFICIENCY WNT7A - ARG292CYS 109 109 ALA THR FUHRMANN SYNDROME WNT7A - ALA109THR 88 88 ASN LYS MYASTHENIC SYNDROME - CONGENITAL - ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY RAPSN - ASN88LYS 14 14 LEU PRO MYASTHENIC SYNDROME - CONGENITAL - ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY RAPSN - LEU14PRO 283 283 LEU PRO MYASTHENIC SYNDROME - CONGENITAL - ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY RAPSN - LEU283PRO 164 164 ARG CYS MYASTHENIC SYNDROME - CONGENITAL - ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY RAPSN - ARG164CYS 45 45 VAL MET MYASTHENIC SYNDROME - CONGENITAL - ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY RAPSN - VAL45MET 162 162 GLU LYS MYASTHENIC SYNDROME - CONGENITAL - ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY RAPSN - GLU162LYS 139 139 PHE SER FETAL AKINESIA DEFORMATION SEQUENCE RAPSN - PHE139SER 189 189 ALA VAL FETAL AKINESIA DEFORMATION SEQUENCE RAPSN - ALA189VAL 557 557 CYS SER BREAST CANCER - SUSCEPTIBILITY TO BARD1 - CYS557SER 264 275 ALA ASP CHAR SYNDROME TFAP2B - ALA264ASP 289 300 ARG CYS CHAR SYNDROME TFAP2B - ARG289CYS 225 236 ARG CYS CHAR SYNDROME TFAP2B - ARG225CYS 225 236 ARG SER CHAR SYNDROME TFAP2B - ARG225SER 274 285 ARG GLN CHAR SYNDROME TFAP2B - ARG274GLN 62 73 PRO ARG CHAR SYNDROME TFAP2B - PRO62ARG 213 213 ARG TRP MYCOBACTERIAL AND SALMONELLA INFECTIONS - SUSCEPTIBILITY TO IL12RB1 - ARG213TRP 198 198 CYS ARG MYCOBACTERIAL INFECTIONS - SUSCEPTIBILITY TO IL12RB1 - CYS198ARG 31 31 GLU VAL SCHWANNOMATOSIS SMARCB1 - GLU31VAL 28 28 ALA THR 3-@HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY HADH - ALA28THR 45 45 ASP GLU 3-@HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY HADH - ASP45GLU 258 258 PRO LEU HYPERINSULINEMIC HYPOGLYCEMIA - FAMILIAL - 4 HADH - PRO258LEU 258 258 PRO LEU HYPERINSULINEMIC HYPOGLYCEMIA - FAMILIAL - 4 HADH - 6-BP DEL - PRO258LEU 101 101 LEU PRO SURFACTANT METABOLISM DYSFUNCTION - PULMONARY - 3 ABCA3 - LEU101PRO 1553 1553 LEU PRO SURFACTANT METABOLISM DYSFUNCTION - PULMONARY - 3 ABCA3 - LEU1553PRO 1591 1591 GLN PRO SURFACTANT METABOLISM DYSFUNCTION - PULMONARY - 3 ABCA3 - GLN1591PRO 568 568 ASN ASP SURFACTANT METABOLISM DYSFUNCTION - PULMONARY - 3 ABCA3 - ASN568ASP 326 326 LEU PRO SURFACTANT METABOLISM DYSFUNCTION - PULMONARY - 3 ABCA3 - LEU326PRO 238 238 GLY TRP FUNDUS ALBIPUNCTATUS - AUTOSOMAL RECESSIVE RDH5 - GLY238TRP 73 73 SER PHE FUNDUS ALBIPUNCTATUS - AUTOSOMAL RECESSIVE RDH5 - SER73PHE 280 280 ARG HIS FUNDUS ALBIPUNCTATUS - AUTOSOMAL RECESSIVE RDH5 - ARG280HIS 294 294 ALA PRO FUNDUS ALBIPUNCTATUS - AUTOSOMAL RECESSIVE RDH5 - ALA294PRO 177 177 VAL GLY FUNDUS ALBIPUNCTATUS - AUTOSOMAL RECESSIVE RDH5 - VAL177GLY 281 281 TYR HIS FUNDUS ALBIPUNCTATUS - AUTOSOMAL RECESSIVE RDH5 - TYR281HIS 310 310 LEU GLY FUNDUS ALBIPUNCTATUS - AUTOSOMAL RECESSIVE RDH5 - LEU310GLY/VAL 157 157 ARG TRP FUNDUS ALBIPUNCTATUS - AUTOSOMAL RECESSIVE RDH5 - ARG157TRP 104 104 ALA PRO HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME SOX18 - ALA104PRO 95 95 TRP ARG HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME SOX18 - TRP95ARG 237 237 ARG GLN HOLT-ORAM SYNDROME TBX5 - ARG237GLN 80 80 GLY ARG HOLT-ORAM SYNDROME TBX5 - GLY80ARG 237 237 ARG TRP HOLT-ORAM SYNDROME TBX5 - ARG237TRP 49 49 GLN LYS HOLT-ORAM SYNDROME TBX5 - GLN49LYS 54 54 ILE THR HOLT-ORAM SYNDROME TBX5 - ILE54THR 119 119 GLN PRO SAETHRE-CHOTZEN SYNDROME TWIST1 - GLN119PRO 135 135 LEU PRO SAETHRE-CHOTZEN SYNDROME TWIST1 - LEU135PRO 156 156 ILE VAL SAETHRE-CHOTZEN SYNDROME TWIST1 - ILE156VAL 186 186 ALA THR CRANIOSYNOSTOSIS - TYPE 1 TWIST1 - ALA186THR 188 188 SER LEU CRANIOSYNOSTOSIS - TYPE 1 TWIST1 - SER188LEU 106 126 THR PRO ANGELMAN SYNDROME UBE3A - THR106PRO 130 150 ILE THR ANGELMAN SYNDROME UBE3A - ILE130THR 287 287 GLY ARG SPINAL MUSCULAR ATROPHY - MODIFIER OF SMN2 - GLY287ARG 437 437 TYR HIS GLAUCOMA 1 - OPEN ANGLE - A MYOC - TYR437HIS 357 357 GLY VAL GLAUCOMA 1 - OPEN ANGLE - A MYOC - GLY357VAL 370 370 PRO LEU GLAUCOMA 1 - OPEN ANGLE - A MYOC - PRO370LEU 477 477 ILE SER GLAUCOMA 1 - OPEN ANGLE - A MYOC - ILE477SER 480 480 ASN LYS GLAUCOMA 1 - OPEN ANGLE - A MYOC - ASN480LYS 367 367 GLY ARG GLAUCOMA 1 - OPEN ANGLE - A MYOC - GLY367ARG 337 337 GLN ARG GLAUCOMA 1 - OPEN ANGLE - A MYOC - GLN337ARG 423 423 LYS GLU GLAUCOMA 1 - OPEN ANGLE - A MYOC - LYS423GLU 433 433 CYS ARG GLAUCOMA 1 - OPEN ANGLE - A MYOC - CYS433ARG 399 399 GLY VAL GLAUCOMA 1 - OPEN ANGLE - A - DIGENIC MYOC - GLY399VAL 48 48 GLN HIS GLAUCOMA 1 - OPEN ANGLE - A GLAUCOMA 3 - PRIMARY CONGENITAL - A - DIGENIC - INCLUDED MYOC - GLN48HIS 245 245 CYS TYR GLAUCOMA 1 - OPEN ANGLE - A MYOC - CYS245TYR 252 252 GLY ARG GLAUCOMA 1 - OPEN ANGLE - A MYOC - GLY252ARG 380 380 ASP HIS GLAUCOMA 1 - OPEN ANGLE - A MYOC - ASP380HIS 477 477 ILE ASN GLAUCOMA 1 - OPEN ANGLE - A MYOC - ASP380HIS 407 440 ARG GLN BRANCHIOOTORENAL SYNDROME 1 EYA1 - ARG407GLN 514 547 ARG GLY ANTERIOR SEGMENT ANOMALIES AND CATARACT EYA1 - ARG514GLY 330 363 GLU LYS ANTERIOR SEGMENT ANOMALIES EYA1 - GLU330LYS 393 426 GLY SER BRANCHIOOTORENAL SYNDROME WITH CATARACT EYA1 - GLY393SER 454 487 SER PRO BRANCHIOOTORENAL SYNDROME 1 EYA1 - SER454PRO 472 505 LEU ARG BRANCHIOOTORENAL SYNDROME 1 EYA1 - LEU472ARG 1087 1087 SER LEU RETINITIS PIGMENTOSA 33 SNRNP200 - SER1087LEU 135 135 ARG THR MEESMANN CORNEAL DYSTROPHY KRT12 - ARG135THR 143 143 VAL LEU MEESMANN CORNEAL DYSTROPHY KRT12 - VAL143LEU 135 135 ARG GLY MEESMANN CORNEAL DYSTROPHY KRT12 - ARG135GLY 135 135 ARG ILE MEESMANN CORNEAL DYSTROPHY KRT12 - ARG135ILE 429 429 TYR ASP MEESMANN CORNEAL DYSTROPHY KRT12 - TYR429ASP 140 140 LEU ARG MEESMANN CORNEAL DYSTROPHY KRT12 - LEU140ARG 129 129 MET THR MEESMANN CORNEAL DYSTROPHY KRT12 - MET129THR 140 140 ALA PRO CRANIOOSTEOARTHROPATHY HPGD - ALA140PRO 193 193 SER PRO DIGITAL CLUBBING - ISOLATED CONGENITAL HPGD - SER193PRO 279 279 VAL PHE PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE DEFICIENCY PLA2G7 - VAL279PHE 198 198 ILE THR ASTHMA AND ATOPY - SUSCEPTIBILITY TO PLA2G7 - ILE198THR 379 379 ALA VAL ASTHMA AND ATOPY - SUSCEPTIBILITY TO PLA2G7 - ALA379VAL 863 863 GLY ALA STARGARDT DISEASE 1 CONE-ROD DYSTROPHY 3 - INCLUDED ABCA4 - GLY863ALA 931 931 VAL MET STARGARDT DISEASE 1 ABCA4 - VAL931MET 1028 1028 ALA VAL STARGARDT DISEASE 1 ABCA4 - ALA1028VAL 2027 2027 LEU PHE STARGARDT DISEASE 1 CONE-ROD DYSTROPHY 3 - INCLUDED ABCA4 - LEU2027PHE 2050 2050 VAL LEU STARGARDT DISEASE 1 ABCA4 - VAL2050LEU 2177 2177 ASP ASN MACULAR DEGENERATION - AGE-RELATED - 2 - SUSCEPTIBILITY TO ABCA4 - ASP2177ASN 1961 1961 GLY GLU MACULAR DEGENERATION - AGE-RELATED - 2 - SUSCEPTIBILITY TO STARGARDT DISEASE 1 - INCLUDED;; CONE-ROD DYSTROPHY 3 - INCLUDED ABCA4 - GLY1961GLU 1036 1036 GLU LYS STARGARDT DISEASE 1 ABCA4 - GLU1036LYS 1970 1970 LEU PHE FUNDUS FLAVIMACULATUS ABCA4 - LEU1970PHE 1971 1971 LEU ARG FUNDUS FLAVIMACULATUS ABCA4 - LEU1971ARG 1038 1038 ALA VAL STARGARDT DISEASE 1 MACULAR DEGENERATION - AGE-RELATED - 2 - SUSCEPTIBILITY TO - INCLUDED;; CONE-ROD DYSTROPHY 3 - INCLUDED ABCA4 - ALA1038VAL 340 340 TYR ASP STARGARDT DISEASE 1 ABCA4 - TYR340ASP 212 212 ARG CYS STARGARDT DISEASE 1 ABCA4 - ARG212CYS 18 18 ARG TRP STARGARDT DISEASE 1 ABCA4 - ARG18TRP 572 572 ARG GLN STARGARDT DISEASE 1 ABCA4 - ARG572GLN 1038 1038 ALA VAL STARGARDT DISEASE 1 CONE-ROD DYSTROPHY 3 - INCLUDED ABCA4 - LEU541PRO AND ALA1038VAL 541 541 LEU PRO STARGARDT DISEASE 1 CONE-ROD DYSTROPHY 3 - INCLUDED ABCA4 - LEU541PRO AND ALA1038VAL 1201 1201 LEU ARG CONE-ROD DYSTROPHY 3 ABCA4 - LEU1201ARG 1380 1380 PRO LEU STARGARDT DISEASE MACULAR DEGENERATION - AGE-RELATED - 2 - SUSCEPTIBILITY TO - INCLUDED ABCA4 - PRO1380LEU 1762 1762 ALA ASP CONE-ROD DYSTROPHY 3 STARGARDT DISEASE 1 - INCLUDED ABCA4 - ALA1762ASP 1940 1940 LEU PRO FUNDUS FLAVIMACULATUS STARGARDT DISEASE 1 - INCLUDED;; CONE-ROD DYSTROPHY 3 - INCLUDED ABCA4 - LEU1940PRO 1780 1780 PRO ALA STARGARDT DISEASE 1 ABCA4 - PRO1780ALA 943 943 ARG GLN MACULAR DEGENERATION - AGE-RELATED - 2 - SUSCEPTIBILITY TO STARGARDT DISEASE 1 ABCA4 - ARG943GLN 821 821 TRP ARG STARGARDT DISEASE 1 ABCA4 - TRP821ARG 1122 1122 GLU LYS STARGARDT DISEASE 1 ABCA4 - GLU1122LYS 555 555 ARG TRP CORNEAL DYSTROPHY - GROENOUW TYPE I TGFBI - ARG555TRP 555 555 ARG GLN CORNEAL DYSTROPHY - THIEL-BEHNKE TYPE TGFBI - ARG555GLN 124 124 ARG CYS CORNEAL DYSTROPHY - LATTICE TYPE I TGFBI - ARG124CYS 124 124 ARG HIS CORNEAL DYSTROPHY - AVELLINO TYPE TGFBI - ARG124HIS 501 501 PRO THR CORNEAL DYSTROPHY - LATTICE TYPE IIIA TGFBI - PRO501THR 124 124 ARG LEU CORNEAL DYSTROPHY - REIS-BUCKLERS TYPE TGFBI - ARG124LEU 124 124 ARG SER CORNEAL DYSTROPHY - GROENOUW TYPE I TGFBI; ARG124SER 546 546 ALA ASP CORNEAL DYSTROPHY - LATTICE TYPE I TGFBI - ALA546ASP - PRO551GLN 551 551 PRO GLN CORNEAL DYSTROPHY - LATTICE TYPE I TGFBI - ALA546ASP - PRO551GLN 540 540 PHE SER CORNEAL DYSTROPHY - LATTICE TYPE IIIA TGFBI - PHE540SER 623 623 GLY ASP CORNEAL DYSTROPHY - REIS-BUCKLERS TYPE TGFBI - GLY623ASP 509 509 LEU ARG CORNEAL DYSTROPHY - EPITHELIAL BASEMENT MEMBRANE TGFBI - LEU509ARG 666 666 ARG SER CORNEAL DYSTROPHY - EPITHELIAL BASEMENT MEMBRANE TGFBI - ARG666SER 477 477 PRO LEU HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS - FAMILIAL 5 STXBP2 - PRO477LEU 209 209 LEU PRO HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS - FAMILIAL 5 STXBP2 - LEU209PRO 541 541 GLY SER HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS - FAMILIAL 5 STXBP2 - GLY541SER 248 248 GLY VAL SMALL PATELLA SYNDROME TBX4 - GLY248VAL 531 531 GLN ARG SMALL PATELLA SYNDROME TBX4 - GLN531ARG 111 111 ARG LEU DIABETES MELLITUS - TYPE II NEUROD1 - ARG111LEU 129 129 GLY GLU COWDEN DISEASE PTEN - GLY129GLU 170 170 SER ARG BANNAYAN-RILEY-RUVALCABA SYNDROME PTEN - SER170ARG 123 123 HIS ARG COWDEN DISEASE PTEN - HIS123ARG 124 124 CYS ARG COWDEN DISEASE PTEN - CYS124ARG 35 35 MET ARG COWDEN SYNDROME PTEN - MET35ARG 70 70 LEU PRO COWDEN SYNDROME-LIKE PHENOTYPE PTEN - LEU70PRO 130 130 ARG GLN COWDEN DISEASE PTEN - ARG130GLN 112 112 LEU PRO LHERMITTE-DUCLOS DISEASE PTEN - LEU112PRO 124 124 CYS SER COWDEN DISEASE PTEN - CYS124SER 19 19 ASP ASN MALIGNANT MELANOMA - SOMATIC PTEN - ASP19ASN 217 217 VAL ILE MALIGNANT MELANOMA - SOMATIC PTEN - VAL217ILE 234 234 ARG GLN GLIOMA SUSCEPTIBILITY 2 MENINGIOMA - INCLUDED PTEN - ARG234GLN 861 861 HIS ASP VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY PTEN - HIS861ASP 121 121 ALA GLY SQUAMOUS CELL CARCINOMA - HEAD AND NECK - SOMATIC PTEN - ALA121GLY 93 93 HIS ARG MACROCEPHALY/AUTISM SYNDROME PTEN - HIS93ARG 252 252 ASP GLY MACROCEPHALY/AUTISM SYNDROME PTEN - ASP252GLY 241 241 PHE SER MACROCEPHALY/AUTISM SYNDROME PTEN - PHE241SER 132 132 GLY VAL PTEN HAMARTOMA TUMOR SYNDROME PTEN - GLY132VAL 426 426 LYS ARG AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY ATIC - LYS426ARG 691 691 ILE THR PRIMARY LOCALIZED CUTANEOUS AMYLOIDOSIS OSMR - ILE691THR 618 618 GLY ALA PRIMARY LOCALIZED CUTANEOUS AMYLOIDOSIS OSMR - GLY618ALA 272 272 THR LYS TUMORAL CALCINOSIS - HYPERPHOSPHATEMIC - FAMILIAL GALNT3 - THR272LYS 359 359 THR LYS TUMORAL CALCINOSIS - HYPERPHOSPHATEMIC - FAMILIAL GALNT3 - THR359LYS 574 574 CYS GLY TUMORAL CALCINOSIS - HYPERPHOSPHATEMIC - FAMILIAL GALNT3 - CYS574GLY 218 218 ALA VAL RHIZOMELIC CHONDRODYSPLASIA PUNCTATA - TYPE 1 PEX7 - ALA218VAL 217 217 GLY ARG RHIZOMELIC CHONDRODYSPLASIA PUNCTATA - TYPE 1 PEX7 - GLY217ARG 14 14 THR PRO REFSUM DISEASE - ADULT - 2 PEX7 - THR14PRO 320 320 SER PHE PEROXISOME BIOGENESIS DISORDER - COMPLEMENTATION GROUP 3 PEX12 - SER320PHE 91 91 ARG SER PEROXISOME BIOGENESIS DISORDER - COMPLEMENTATION GROUP 3 PEX12 - ARG91SER 317 317 LEU PHE PEROXISOME BIOGENESIS DISORDER - COMPLEMENTATION GROUP 3 PEX12 - LEU317PHE 285 285 LEU PHE AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME - TYPE IIA CASP10 - LEU285PHE 414 414 ALA VAL NON-HODGKIN LYMPHOMA - SOMATIC CASP10 - ALA414VAL 147 147 MET THR GASTRIC CANCER - SOMATIC CASP10 - MET147THR 406 406 ILE LEU AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME - TYPE IIA CASP10 - ILE406LEU 248 162 ARG TRP CASPASE 8 DEFICIENCY CASP8 - ARG248TRP 302 216 ASP HIS BREAST CANCER - PROTECTION AGAINST CASP8 - ASP302HIS 33 33 GLY ASP VITAMIN D-DEPENDENT RICKETS - TYPE 2A VDR - GLY33ASP 73 73 ARG GLN VITAMIN D-DEPENDENT RICKETS - TYPE 2A VDR - ARG73GLN 77 77 ARG GLN VITAMIN D-DEPENDENT RICKETS - TYPE 2A VDR - ARG77GLN 47 47 ARG GLN VITAMIN D-DEPENDENT RICKETS - TYPE 2A VDR - ARG47GLN 271 271 ARG LEU VITAMIN D-DEPENDENT RICKETS - TYPE 2A VDR - ARG271LEU 46 46 GLY ASP VITAMIN D-DEPENDENT RICKETS - TYPE 2A VDR - GLY46ASP 305 305 HIS GLN VITAMIN D-DEPENDENT RICKETS - TYPE 2A VDR - HIS305GLN 314 314 ILE SER VITAMIN D-DEPENDENT RICKETS - TYPE 2A VDR - ILE314SER 391 391 ARG CYS VITAMIN D-DEPENDENT RICKETS - TYPE 2A VDR - ARG391CYS 329 329 GLU LYS VITAMIN D-DEPENDENT RICKETS - TYPE 2A VDR - GLU329LYS 346 346 VAL MET VITAMIN D-DEPENDENT RICKETS - TYPE 2A VDR - VAL346MET 61 61 GLY GLU GLAUCOMA 3 - PRIMARY CONGENITAL - A CYP1B1 - GLY61GLU 365 365 GLY TRP GLAUCOMA - PRIMARY CONGENITAL - A CYP1B1 - GLY365TRP 469 469 ARG TRP GLAUCOMA 3 - PRIMARY CONGENITAL - A CYP1B1 - ARG469TRP 374 374 ASP ASN GLAUCOMA 3 - PRIMARY CONGENITAL - A CYP1B1 - ASP374ASN 387 387 LYS GLU GLAUCOMA 3 - PRIMARY CONGENITAL - A CYP1B1 - LYS387GLU 1 1 MET THR PETERS ANOMALY CYP1B1 - MET1THR 368 368 ARG HIS GLAUCOMA - EARLY-ONSET - DIGENIC CYP1B1 - ARG368HIS 232 232 GLY ARG GLAUCOMA 3 - PRIMARY CONGENITAL - A GLAUCOMA - PRIMARY OPEN ANGLE - ADULT-ONSET - INCLUDED CYP1B1 - GLY232ARG 387 387 GLU LYS GLAUCOMA 3 - PRIMARY CONGENITAL - A GLAUCOMA - PRIMARY OPEN ANGLE - ADULT-ONSET - INCLUDED CYP1B1 - GLU387LYS 423 423 ASN TYR GLAUCOMA - PRIMARY OPEN ANGLE - JUVENILE-ONSET GLAUCOMA 3 - PRIMARY CONGENITAL - A - INCLUDED CYP1B1 - ASN423TYR 81 81 TYR ASN GLAUCOMA - PRIMARY OPEN ANGLE - ADULT-ONSET CYP1B1 - TYR81ASN 141 141 ARG HIS CONGENITAL DISORDER OF GLYCOSYLATION - TYPE Ia PMM2 - ARG141HIS 216 216 ASN ILE CONGENITAL DISORDER OF GLYCOSYLATION - TYPE Ia PMM2 - ASN216ILE 129 129 VAL MET CONGENITAL DISORDER OF GLYCOSYLATION - TYPE Ia PMM2 - VAL129MET 162 162 ARG TRP CONGENITAL DISORDER OF GLYCOSYLATION - TYPE Ia PMM2 - ARG162TRP 65 65 ASP TYR CONGENITAL DISORDER OF GLYCOSYLATION - TYPE Ia PMM2 - ASP65TYR 119 119 PHE LEU CONGENITAL DISORDER OF GLYCOSYLATION - TYPE Ia PMM2 - PHE119LEU 188 188 ASP GLY CONGENITAL DISORDER OF GLYCOSYLATION - TYPE Ia PMM2 - ASP188GLY 117 117 GLY ARG CONGENITAL DISORDER OF GLYCOSYLATION - TYPE Ia PMM2 - GLY117ARG 223 223 ASP GLU CONGENITAL DISORDER OF GLYCOSYLATION - TYPE Ia PMM2 - ASP223GLU 237 237 THR ARG CONGENITAL DISORDER OF GLYCOSYLATION - TYPE Ia PMM2 - THR237ARG 241 241 CYS SER CONGENITAL DISORDER OF GLYCOSYLATION - TYPE Ia PMM2 - CYS241SER 132 132 ILE THR CONGENITAL DISORDER OF GLYCOSYLATION - TYPE Ia PMM2 - ILE132THR 231 231 VAL MET CONGENITAL DISORDER OF GLYCOSYLATION - TYPE Ia PMM2 - VAL231MET 9 9 CYS TYR CONGENITAL DISORDER OF GLYCOSYLATION - TYPE Ia PMM2 - CYS9TYR 32 32 LEU ARG CONGENITAL DISORDER OF GLYCOSYLATION - TYPE Ia PMM2 - LEU32ARG 226 226 THR SER CONGENITAL DISORDER OF GLYCOSYLATION - TYPE Ia PMM2 - THR226SER 113 113 PRO LEU CONGENITAL DISORDER OF GLYCOSYLATION - TYPE Ia PMM2 - PRO113LEU 44 44 VAL ALA CONGENITAL DISORDER OF GLYCOSYLATION - TYPE Ia PMM2 - VAL44ALA 326 326 ILE THR NEONATAL ADRENOLEUKODYSTROPHY PEX13 - ILE326THR 160 160 ARG CYS SEPTOOPTIC DYSPLASIA HESX1 - ARG160CYS 170 170 SER LEU SEPTOOPTIC DYSPLASIA - MILD HESX1 - SER170LEU 181 181 THR ALA GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES HESX1 - THR181ALA 26 26 ILE THR PITUITARY HORMONE DEFICIENCY - COMBINED - 5 HESX1 - ILE26THR 149 149 GLU LYS GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES HESX1 - GLU149LYS 6 6 GLN HIS PITUITARY HORMONE DEFICIENCY - COMBINED - 5 HESX1 - GLN6HIS 41 41 GLY ARG HYPOMAGNESEMIA 2 - RENAL FXYD2 - GLY41ARG 122 122 VAL MET LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY NDUFS7 - VAL122MET 145 145 ARG HIS LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY NDUFS7 - ARG145HIS 469 469 GLY GLU LIG4 SYNDROME LIG4 - GLY469GLU 278 278 ARG HIS LIG4 SYNDROME LIG4 - ARG278HIS 3 3 ALA VAL MULTIPLE MYELOMA - RESISTANCE TO LIG4 - ALA3VAL 9 9 THR ILE MULTIPLE MYELOMA - RESISTANCE TO LIG4 - THR9ILE 354 354 THR PRO THYROID DYSHORMONOGENESIS 1 SLC5A5 - THR354PRO 267 267 GLN GLU THYROID DYSHORMONOGENESIS 1 SLC5A5 - GLN267GLU 93 93 GLY ARG THYROID DYSHORMONOGENESIS 1 SLC5A5 - GLY93ARG 543 543 GLY GLU THYROID DYSHORMONOGENESIS 1 SLC5A5 - GLY543GLU 395 395 GLY ARG THYROID DYSHORMONOGENESIS 1 SLC5A5 - GLY395ARG 565 565 GLN GLU PSEUDOHYPOALDOSTERONISM - TYPE IIB WNK4 - GLN565GLU 562 562 GLU LYS PSEUDOHYPOALDOSTERONISM - TYPE IIB WNK4 - GLU562LYS 564 564 ASP ALA PSEUDOHYPOALDOSTERONISM - TYPE IIB WNK4 - ASP564ALA 1185 1185 ARG CYS PSEUDOHYPOALDOSTERONISM - TYPE IIB WNK4 - ARG1185CYS 16 16 GLY SER D-BIFUNCTIONAL PROTEIN DEFICIENCY HSD17B4 - GLY16SER 457 457 ASN TYR D-BIFUNCTIONAL PROTEIN DEFICIENCY HSD17B4 - ASN457TYR 106 106 ARG PRO D-BIFUNCTIONAL PROTEIN DEFICIENCY HSD17B4 - ARG106PRO 149 149 ARG GLN BARE LYMPHOCYTE SYNDROME - TYPE II - COMPLEMENTATION GROUP E RFX5 - ARG149GLN 608 608 THR ILE BRUCK SYNDROME 2 PLOD2 - THR608ILE 601 601 GLY VAL BRUCK SYNDROME 2 PLOD2 - GLY601VAL 598 598 ARG HIS BRUCK SYNDROME 2 PLOD2 - ARG598HIS 342 342 SER LYS LEFT-RIGHT AXIS MALFORMATIONS LEFTY2 - SER342LYS 192 192 ARG GLU MICROPHTHALMIA - ISOLATED 3 RAX - ARG192GLU 204 204 ALA GLU SHORT STATURE - IDIOPATHIC - AUTOSOMAL GHSR - ALA204GLU 237 237 ARG TRP SHORT STATURE - IDIOPATHIC - AUTOSOMAL GHSR - ARG237TRP 332 332 ARG TRP SPLIT-HAND/FOOT MALFORMATION 6 WNT10B - ARG332TRP 184 184 ARG CYS ALAGILLE SYNDROME 1 JAG1 - ARG184CYS 184 184 ARG HIS ALAGILLE SYNDROME 1 JAG1 - ARG184HIS 274 274 GLY ASP TETRALOGY OF FALLOT JAG1 - GLY274ASP 37 37 LEU SER ALAGILLE SYNDROME 1 JAG1 - LEU37SER 234 234 CYS TYR DEAFNESS - CONGENITAL HEART DEFECTS - AND POSTERIOR EMBRYOTOXON JAG1 - CYS234TYR 413 413 GLU LYS MONILETHRIX KRT86 - GLU413LYS 413 413 GLU ASP MONILETHRIX KRT86 - GLU413ASP 402 402 GLU LYS MONILETHRIX KRT86 - GLU402LYS 114 114 ASN ASP MONILETHRIX KRT86 - ASN114ASP 402 402 GLU GLN MONILETHRIX KRT86 - GLU402GLN 118 118 ALA GLU MONILETHRIX KRT86 - ALA118GLU 104 104 CYS PHE EPILEPSY - GENERALIZED IDIOPATHIC - SUSCEPTIBILITY TO - 9 EPISODIC ATAXIA - TYPE 5 - INCLUDED CACNB4 - CYS104PHE 46 46 ARG GLN RENAL CELL CARCINOMA - CLEAR CELL - SOMATIC OGG1 - ARG46GLN 124 124 PRO LEU BARTTER SYNDROME - TYPE 3 CLCNKB - PRO124LEU 204 204 ALA THR BARTTER SYNDROME - TYPE 3 CLCNKB - ALA204THR 438 438 ARG CYS BARTTER SYNDROME - TYPE 3 CLCNKB - ARG438CYS 349 349 ALA ASP BARTTER SYNDROME - TYPE 3 CLCNKB - ALA349ASP 432 432 TYR HIS BARTTER SYNDROME - TYPE 3 CLCNKB - TYR432HIS 80 80 CYS TRP BARTTER SYNDROME - TYPE 4B CLCNKA - CYS80TRP 275 275 ARG TRP REFSUM DISEASE - ADULT - 1 PHYH - ARG275TRP 269 269 ASN HIS REFSUM DISEASE - ADULT - 1 PHYH - ASN269HIS 29 29 PRO SER REFSUM DISEASE - ADULT - 1 PHYH - PRO29SER 176 176 GLN LYS REFSUM DISEASE - ADULT - 1 PHYH - GLN176LYS 204 204 GLY SER REFSUM DISEASE - ADULT - 1 PHYH - GLY204SER 275 275 ARG GLN REFSUM DISEASE - ADULT - 1 PHYH - ARG275GLN 102 102 VAL ILE UCP3 POLYMORPHISM G/A OBESITY - SEVERE - AND TYPE II DIABETES UCP3 - 304G-A - VAL102ILE 70 70 ARG TRP OBESITY - SEVERE - AND TYPE II DIABETES UCP3 - ARG70TRP 57 57 ASP ASN NEUTROPHIL IMMUNODEFICIENCY SYNDROME RAC2 - ASP57ASN 116 116 SER PRO PROSTATE CANCER - SOMATIC KLF6 - SER116PRO 123 123 ALA ASP PROSTATE CANCER - SOMATIC KLF6 - ALA123ASP 64 64 TRP ARG PROSTATE CANCER - SOMATIC KLF6 - TRP64ARG 169 169 LEU PRO PROSTATE CANCER - SOMATIC KLF6 - LEU169PRO 155 155 SER ARG GASTRIC CANCER - SOMATIC KLF6 - SER155ARG 148 148 PHE TYR CONOTRUNCAL ANOMALY FACE SYNDROME/VELOCARDIOFACIAL SYNDROME TBX1 - PHE148TYR 310 310 GLY SER DIGEORGE SYNDROME TBX1 - GLY310SER 194 194 HIS GLN VELOCARDIOFACIAL SYNDROME TBX1 - HIS194GLN 418 418 PRO LEU CHERUBISM SH3BP2 - PRO418LEU 418 418 PRO ARG CHERUBISM SH3BP2 - PRO418ARG 418 418 PRO HIS CHERUBISM SH3BP2 - PRO418HIS 415 415 ARG PRO CHERUBISM SH3BP2 - ARG415PRO 415 415 ARG GLN CHERUBISM SH3BP2 - ARG415GLN 420 420 GLY ARG CHERUBISM SH3BP2 - GLY420ARG 420 420 GLY GLU CHERUBISM SH3BP2 - GLY420GLU 194 194 VAL ASP EPIPHYSEAL DYSPLASIA - MULTIPLE - 5 MATN3 - VAL194ASP 121 121 ARG TRP EPIPHYSEAL DYSPLASIA - MULTIPLE - 5 MATN3 - ARG121TRP 303 303 THR MET OSTEOARTHRITIS SUSCEPTIBILITY 2 MATN3 - THR303MET 219 219 ALA ASP EPIPHYSEAL DYSPLASIA - MULTIPLE - 5 MATN3 - ALA219ASP 304 304 CYS SER SPONDYLOEPIMETAPHYSEAL DYSPLASIA - MATN3-RELATED MATN3 - CYS304SER 70 70 ARG HIS EPIPHYSEAL DYSPLASIA - MULTIPLE - 5 MATN3 - ARG70HIS 128 128 ALA PRO EPIPHYSEAL DYSPLASIA - MULTIPLE - 5 MATN3 - ALA128PRO 5179 5179 ARG HIS KABUKI SYNDROME MLL2 - ARG5179HIS 5464 5464 THR MET KABUKI SYNDROME MLL2 - THR5464MET 106 106 CYS PHE LADD SYNDROME FGF10 - CYS106PHE 156 156 ILE ARG LADD SYNDROME FGF10 - ILE156ARG 80 80 ARG SER APLASIA OF LACRIMAL AND SALIVARY GLANDS FGF10 - ARG80SER 138 138 GLY GLU APLASIA OF LACRIMAL AND SALIVARY GLANDS FGF10 - GLY138GLU 204 204 ASN LYS MITOCHONDRIAL COMPLEX IV DEFICIENCY ENCEPHALOPATHY - PROGRESSIVE MITOCHONDRIAL - WITH PROXIMAL RENAL TUBULOPATHY DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY COX10 - ASN204LYS 196 196 THR LYS MITOCHONDRIAL COMPLEX IV DEFICIENCY COX10 - THR196LYS 225 225 PRO LEU MITOCHONDRIAL COMPLEX IV DEFICIENCY COX10 - PRO225LEU 336 336 ASP VAL LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY COX10 - ASP336VAL 336 336 ASP GLY LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY COX10 - ASP336GLY 843 843 GLY ASP REFSUM DISEASE - INFANTILE FORM NEONATAL ADRENOLEUKODYSTROPHY - INCLUDED;; ZELLWEGER SYNDROME - INCLUDED PEX1 - GLY843ASP 664 664 LEU PRO ZELLWEGER SYNDROME NEONATAL ADRENOLEUKODYSTROPHY - INCLUDED PEX1 - LEU664PRO 79 79 PRO LEU LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY NDUFS8 - PRO79LEU 102 102 ARG HIS LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY NDUFS8 - ARG102HIS 85 85 PRO LEU LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY NDUFS8 - PRO85LEU 138 138 ARG HIS LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY NDUFS8 - ARG138HIS 210 210 ALA PRO PITUITARY HORMONE DEFICIENCY - COMBINED - 4 LHX4 - ALA210PRO 84 84 ARG CYS PITUITARY HORMONE DEFICIENCY - COMBINED - 4 LHX4 - ARG84CYS 190 190 LEU ARG PITUITARY HORMONE DEFICIENCY - COMBINED - 4 LHX4 - LEU190ARG 366 366 PRO THR PITUITARY HORMONE DEFICIENCY - COMBINED - 4 LHX4 - PRO366THR 230 230 GLU LYS CLUBFOOT - CONGENITAL PITX1 - GLU230LYS 413 413 GLU LYS MONILETHRIX KRT81 - GLU413LYS 402 402 GLU LYS MONILETHRIX KRT81 - GLU402LYS 110 110 ALA VAL DEAFNESS - AUTOSOMAL RECESSIVE 35 ESRRB - ALA110VAL 342 342 VAL LEU DEAFNESS - AUTOSOMAL RECESSIVE 35 ESRRB - VAL342LEU 196 196 ARG CYS MYD88 DEFICIENCY MYD88 - ARG196CYS 93 93 LEU PRO MYD88 DEFICIENCY MYD88 - LEU93PRO 297 297 VAL MET CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY HTRA1 - VAL297MET 252 252 ALA THR CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY HTRA1 - ALA252THR 135 135 SER PHE CHARCOT-MARIE-TOOTH DISEASE - AXONAL - TYPE 2F NEURONOPATHY - DISTAL HEREDITARY MOTOR - TYPE IIB HSPB1 - SER135PHE 127 127 ARG TRP NEURONOPATHY - DISTAL HEREDITARY MOTOR - TYPE IIB CHARCOT-MARIE-TOOTH DISEASE - AXONAL - TYPE 2F - INCLUDED HSPB1 - ARG127TRP 151 151 THR ILE NEURONOPATHY - DISTAL HEREDITARY MOTOR - TYPE IIB HSPB1 - THR151ILE 182 182 PRO LEU NEURONOPATHY - DISTAL HEREDITARY MOTOR - TYPE IIB HSPB1 - PRO182LEU 136 136 ARG TRP CHARCOT-MARIE-TOOTH DISEASE - AXONAL - TYPE 2F HSPB1 - ARG136TRP 182 182 PRO SER NEURONOPATHY - DISTAL HEREDITARY MOTOR - TYPE IIB HSPB1 - PRO182SER 140 140 ARG GLY NEURONOPATHY - DISTAL HEREDITARY MOTOR - TYPE IIB HSPB1 - ARG140GLY 99 99 LEU MET NEURONOPATHY - DISTAL HEREDITARY MOTOR - TYPE IIB - AUTOSOMAL RECESSIVE HSPB1 - LEU99MET 167 167 PHE ILE LIPOID PROTEINOSIS OF URBACH AND WIETHE ECM1 - PHE167ILE 65 65 ARG PRO SEIZURES - SENSORINEURAL DEAFNESS - ATAXIA - MENTAL RETARDATION - AND ELECTROLYTE IMBALANCE KCNJ10 - ARG65PRO 140 140 CYS ARG SEIZURES - SENSORINEURAL DEAFNESS - ATAXIA - MENTAL RETARDATION - AND ELECTROLYTE IMBALANCE KCNJ10 - CYS140ARG 164 164 THR ILE SEIZURES - SENSORINEURAL DEAFNESS - ATAXIA - MENTAL RETARDATION - AND ELECTROLYTE IMBALANCE KCNJ10 - THR164ILE 167 167 ALA VAL SEIZURES - SENSORINEURAL DEAFNESS - ATAXIA - MENTAL RETARDATION - AND ELECTROLYTE IMBALANCE KCNJ10 - ALA167VAL 297 297 ARG CYS SEIZURES - SENSORINEURAL DEAFNESS - ATAXIA - MENTAL RETARDATION - AND ELECTROLYTE IMBALANCE KCNJ10 - ARG297CYS 77 77 GLY ARG SEIZURES - SENSORINEURAL DEAFNESS - ATAXIA - MENTAL RETARDATION - AND ELECTROLYTE IMBALANCE KCNJ10 - GLY77ARG 194 194 ARG HIS ENLARGED VESTIBULAR AQUEDUCT - DIGENIC KCNJ10 - ARG194HIS 348 348 ARG CYS ENLARGED VESTIBULAR AQUEDUCT - DIGENIC KCNJ10 - ARG348CYS 67 67 LEU PRO PEUTZ-JEGHERS SYNDROME STK11 - LEU67PRO 163 163 GLY ASP TESTICULAR TUMOR - SOMATIC STK11 - GLY163ASP 194 194 ASP TYR MELANOMA - SPORADIC MALIGNANT STK11 - ASP194TYR 49 49 TYR ASP MELANOMA - SPORADIC MALIGNANT STK11 - TYR49ASP 135 135 GLY ARG MELANOMA - SPORADIC MALIGNANT STK11 - GLY135ARG 239 239 TRP CYS PEUTZ-JEGHERS SYNDROME STK11 - TRP239CYS 354 354 PHE LEU PEUTZ-JEGHERS SYNDROME STK11 - PHE354LEU 80 80 GLU ALA CONE-ROD DYSTROPHY 2 CRX - GLU80ALA 41 41 ARG TRP CONE-ROD DYSTROPHY 2 CRX - ARG41TRP 41 41 ARG GLN RETINITIS PIGMENTOSA - LATE-ONSET DOMINANT CRX - ARG41GLN 90 90 ARG TRP LEBER CONGENITAL AMAUROSIS 7 CRX - ARG90TRP 135 135 SER THR WAARDENBURG SYNDROME - TYPE 2E - WITHOUT NEUROLOGIC INVOLVEMENT SOX10 - SER135THR 157 157 ALA VAL WAARDENBURG SYNDROME - TYPE 4C SOX10 - ALA157VAL 174 174 GLN PRO WAARDENBURG SYNDROME - TYPE 2E - WITH NEUROLOGIC INVOLVEMENT SOX10 - GLN174PRO 263 263 GLY VAL SEIZURES - BENIGN FAMILIAL NEONATAL - 2 KCNQ3 - GLY263VAL 284 284 TYR CYS SEIZURES - BENIGN FAMILIAL NEONATAL - 1 KCNQ2 - TYR284CYS 306 306 ALA THR SEIZURES - BENIGN FAMILIAL NEONATAL - 1 KCNQ2 - ALA306THR 214 214 ARG TRP SEIZURES - BENIGN FAMILIAL NEONATAL - 1 KCNQ2 - ARG214TRP 207 207 ARG TRP SEIZURES - BENIGN FAMILIAL NEONATAL - 1 - AND/OR MYOKYMIA KCNQ2 - ARG207TRP 526 526 LYS ASN SEIZURES - BENIGN FAMILIAL NEONATAL - 1 EPILEPTIC ENCEPHALOPATHY - EARLY INFANTILE - 7 - INCLUDED KCNQ2 - LYS526ASN 247 247 SER TRP EPILEPTIC ENCEPHALOPATHY - EARLY INFANTILE - 7 KCNQ2 - SER247TRP 207 207 ARG GLN SEIZURES - BENIGN FAMILIAL NEONATAL - 1 - AND/OR MYOKYMIA KCNQ2 - ARG207GLN 576 576 ARG TRP PITT-HOPKINS SYNDROME TCF4 - ARG576TRP 576 576 ARG GLN PITT-HOPKINS SYNDROME TCF4 - ARG576GLN 574 574 ARG PRO PITT-HOPKINS SYNDROME TCF4 - ARG574PRO 157 157 GLY ARG RETINITIS PIGMENTOSA 48 GUCA1B - GLY157ARG 12 12 GLY ALA OCULOPHARYNGEAL MUSCULAR DYSTROPHY PABPN1 - GLY12ALA 420 420 ARG PRO RETINITIS PIGMENTOSA 14 TULP1 - ARG420PRO 491 491 PHE LEU RETINITIS PIGMENTOSA 14 TULP1 - PHE491LEU 459 459 ILE LYS RETINITIS PIGMENTOSA 14 TULP1 - ILE459LYS 382 382 PHE SER RETINITIS PIGMENTOSA 14 TULP1 - PHE382SER 482 482 ARG TRP RETINITIS PIGMENTOSA 14 TULP1 - ARG482TRP 29 29 ARG GLN LATHOSTEROLOSIS SC5DL - ARG29GLN 211 211 GLY ASP LATHOSTEROLOSIS SC5DL - GLY211ASP 46 46 TYR SER LATHOSTEROLOSIS SC5DL - TYR46SER 487 487 ASP ASN MUSCULAR DYSTROPHY - LIMB-GIRDLE - TYPE 2H TRIM32 - ASP487ASN 130 130 PRO SER BARDET-BIEDL SYNDROME 11 TRIM32 - PRO130SER 394 394 ARG HIS MUSCULAR DYSTROPHY - LIMB-GIRDLE - TYPE 2H TRIM32 - ARG394HIS 129 129 LEU PHE CHARCOT-MARIE-TOOTH DISEASE - AXONAL - TYPE 2B RAB7 - LEU129PHE 162 162 VAL MET CHARCOT-MARIE-TOOTH DISEASE - AXONAL - TYPE 2B RAB7 - VAL162MET 161 161 ASN THR CHARCOT-MARIE-TOOTH DISEASE - AXONAL - TYPE 2B RAB7 - ASN161THR 157 157 LYS ASN CHARCOT-MARIE-TOOTH DISEASE - AXONAL - TYPE 2B RAB7 - LYS157ASN 1022 1022 THR ALA ALOPECIA UNIVERSALIS CONGENITA HR - THR1022ALA 1136 1136 VAL ASP ALOPECIA UNIVERSALIS CONGENITA HR - VAL1136ASP 1012 1012 ASP ASN ALOPECIA UNIVERSALIS CONGENITA HR - ASP1012ASN 25 25 PRO ALA HYPOTRICHOSIS - MARIE UNNA TYPE HR - UPSTREAM ORF2 - PRO25ALA 67 67 ALA THR OBESITY - LATE-ONSET LEANNESS - INHERITED AGRP - ALA67THR 184 184 ARG CYS ROBINOW SYNDROME - AUTOSOMAL RECESSIVE ROR2 - ARG184CYS 16 16 LEU ARG NARCOLEPSY HCRT - LEU16ARG 252 252 GLN LEU PAPILLON-LEFEVRE SYNDROME CTSC - GLN252LEU 286 286 GLN ARG HAIM-MUNK SYNDROME CTSC - GLN286ARG 39 39 TRP SER PAPILLON-LEFEVRE SYNDROME CTSC - TRP39SER 301 301 GLY SER PAPILLON-LEFEVRE SYNDROME CTSC - GLY301SER 429 429 TRP CYS PAPILLON-LEFEVRE SYNDROME CTSC - TRP429CYS 127 127 HIS PRO PAPILLON-LEFEVRE SYNDROME CTSC - HIS127PRO 412 412 TYR CYS PERIODONTITIS - AGGRESSIVE - 1 CTSC - TYR412CYS 347 347 TYR CYS PERIODONTITIS - AGGRESSIVE - 1 CTSC - TYR347CYS 8 8 SER PHE HEPATITIS B VIRUS - SUSCEPTIBILITY TO IFNAR2 - SER8PHE 558 558 LYS GLU CHARCOT-MARIE-TOOTH DISEASE - DOMINANT INTERMEDIATE B - WITH NEUTROPENIA DNM2 - LYS558GLU 369 369 ARG GLN MYOPATHY - CENTRONUCLEAR - AUTOSOMAL DOMINANT DNM2 - ARG369GLN 369 369 ARG TRP MYOPATHY - CENTRONUCLEAR - AUTOSOMAL DOMINANT DNM2 - ARG369TRP 465 465 ARG TRP MYOPATHY - CENTRONUCLEAR - AUTOSOMAL DOMINANT DNM2 - ARG465TRP 368 368 GLU LYS MYOPATHY - CENTRONUCLEAR - AUTOSOMAL DOMINANT DNM2 - GLU368LYS 533 533 GLY CYS CHARCOT-MARIE-TOOTH DISEASE - AXONAL - TYPE 2M DNM2 - GLY533CYS 566 566 LEU HIS CHARCOT-MARIE-TOOTH DISEASE - AXONAL - TYPE 2M DNM2 - LEU566HIS 619 619 SER LEU MYOPATHY - CENTRONUCLEAR DNM2 - SER619LEU 619 619 SER TRP MYOPATHY - CENTRONUCLEAR DNM2 - SER619TRP 358 358 GLY ARG CHARCOT-MARIE-TOOTH DISEASE - AXONAL - TYPE 2M DNM2 - GLY358ARG 339 339 ARG GLN COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4 TUFM - ARG339GLN 308 308 GLY VAL CHOLESTASIS - PROGRESSIVE FAMILIAL INTRAHEPATIC 1 ATP8B1 - GLY308VAL 892 892 GLY ARG CHOLESTASIS - PROGRESSIVE FAMILIAL INTRAHEPATIC 1 ATP8B1 - GLY892ARG 288 288 LEU SER CHOLESTASIS - PROGRESSIVE FAMILIAL INTRAHEPATIC 1 ATP8B1 - LEU288SER 661 661 ILE THR CHOLESTASIS - BENIGN RECURRENT INTRAHEPATIC 1 CHOLESTASIS - PROGRESSIVE FAMILIAL INTRAHEPATIC 1 - INCLUDED ATP8B1 - ILE661THR 554 554 ASP ASN CHOLESTASIS - PROGRESSIVE FAMILIAL INTRAHEPATIC 1 ATP8B1 - ASP554ASN 70 70 ASP ASN CHOLESTASIS - INTRAHEPATIC - OF PREGNANCY ATP8B1 - ASP70ASN 867 867 ARG CYS CHOLESTASIS - INTRAHEPATIC - OF PREGNANCY ATP8B1 - ARG867CYS 456 456 THR MET CHOLESTASIS - PROGRESSIVE FAMILIAL INTRAHEPATIC 1 ATP8B1 - THR456MET 125 125 SER LEU LYMPHEDEMA-DISTICHIASIS SYNDROME FOXC2 - SER125LEU 121 121 ARG HIS LYMPHEDEMA-DISTICHIASIS SYNDROME FOXC2 - ARG121HIS 443 443 ILE VAL BLEOMYCIN HYDROLASE POLYMORPHISM BLMH - ILE443VAL 110 110 ASP HIS CYSTIC FIBROSIS CFTR - ASP110HIS 117 117 ARG HIS CYSTIC FIBROSIS VAS DEFERENS - CONGENITAL BILATERAL ABSENCE OF - INCLUDED CFTR - ARG117HIS 347 347 ARG PRO CYSTIC FIBROSIS CFTR - ARG347PRO 455 455 ALA GLU CYSTIC FIBROSIS CFTR - ALA455GLU 549 549 SER ASN CYSTIC FIBROSIS CFTR - SER549ASN 549 549 SER ILE CYSTIC FIBROSIS CFTR - SER549ILE 549 549 SER ARG CYSTIC FIBROSIS CFTR - SER549ARG 551 551 GLY ASP CYSTIC FIBROSIS CFTR - GLY551ASP 559 559 ALA THR CYSTIC FIBROSIS CFTR - ALA559THR 560 560 ARG THR CYSTIC FIBROSIS CFTR - ARG560THR 563 563 TYR ASN CYSTIC FIBROSIS CFTR - TYR563ASN 574 574 PRO HIS CYSTIC FIBROSIS CFTR - PRO574HIS 470 470 MET VAL CFTR POLYMORPHISM CFTR - MET470VAL 506 506 ILE VAL CYSTIC FIBROSIS CFTR - ILE506VAL 508 508 PHE CYS CYSTIC FIBROSIS CFTR - PHE508CYS 913 913 TYR CYS CYSTIC FIBROSIS CFTR - TYR913CYS 458 458 GLY VAL CYSTIC FIBROSIS CFTR - GLY458VAL 1303 1303 ASN LYS CYSTIC FIBROSIS CFTR - ASN1303LYS 334 334 ARG TRP CYSTIC FIBROSIS CFTR - ARG334TRP 551 551 GLY SER CYSTIC FIBROSIS CFTR - GLY551SER 85 85 GLY GLU CYSTIC FIBROSIS CFTR - GLY85GLU 520 520 VAL PHE CYSTIC FIBROSIS CFTR - VAL520PHE 1291 1291 GLN HIS CYSTIC FIBROSIS CFTR - GLN1291HIS 311 311 PHE LEU CYSTIC FIBROSIS CFTR - PHE311LEU 492 492 SER PHE CYSTIC FIBROSIS CFTR - SER492PHE 560 560 ARG LYS CYSTIC FIBROSIS CFTR - ARG560LYS 1066 1066 ARG HIS CYSTIC FIBROSIS CFTR - ARG1066HIS 1067 1067 ALA THR CYSTIC FIBROSIS CFTR - ALA1067THR 1066 1066 ARG CYS CYSTIC FIBROSIS CFTR - ARG1066CYS 1270 1270 ASP ASN VAS DEFERENS - CONGENITAL BILATERAL ABSENCE OF CFTR - ASP1270ASN 576 576 GLY ALA VAS DEFERENS - CONGENITAL BILATERAL ABSENCE OF CFTR - GLY576ALA 1283 1283 ARG MET CYSTIC FIBROSIS CFTR - ARG1283MET 360 360 THR LYS CYSTIC FIBROSIS CFTR - GLN359LYS AND THR360LYS 359 359 GLN LYS CYSTIC FIBROSIS CFTR - GLN359LYS AND THR360LYS 347 347 ARG LEU CYSTIC FIBROSIS CFTR - ARG347LEU 349 349 ALA VAL CYSTIC FIBROSIS CFTR - ALA349VAL 554 554 ALA GLU CYSTIC FIBROSIS CFTR - ALA554GLU 92 92 GLU LYS CYSTIC FIBROSIS CFTR - GLU92LYS 347 347 ARG HIS CYSTIC FIBROSIS CFTR - ARG347HIS 91 91 GLY ARG CYSTIC FIBROSIS CFTR - GLY91ARG 1286 1286 PHE SER CYSTIC FIBROSIS CFTR - PHE1286SER 480 480 GLY CYS CYSTIC FIBROSIS CFTR - GLY480CYS 206 206 LEU TRP CYSTIC FIBROSIS CFTR - LEU206TRP 338 338 THR ILE CYSTIC FIBROSIS CFTR - THR338ILE 556 556 ILE VAL CYSTIC FIBROSIS CFTR - ILE556VAL 109 109 TYR CYS CYSTIC FIBROSIS CFTR - TYR109CYS 352 352 ARG GLN CYSTIC FIBROSIS CFTR - ARG352GLN 524 524 GLN HIS CYSTIC FIBROSIS CFTR - GLN524HIS 648 648 ASP VAL CYSTIC FIBROSIS CFTR - ASP648VAL 912 912 SER LEU CFTR POLYMORPHISM CFTR - SER912LEU 949 949 HIS TYR CYSTIC FIBROSIS CFTR - HIS949TYR 1065 1065 LEU PRO CYSTIC FIBROSIS CFTR - LEU1065PRO 1071 1071 GLN PRO CYSTIC FIBROSIS CFTR - GLN1071PRO 1085 1085 HIS ARG CYSTIC FIBROSIS CFTR - HIS1085ARG 1220 1220 THR ILE CYSTIC FIBROSIS CFTR - THR1220ILE 1234 1234 ILE VAL CYSTIC FIBROSIS CFTR - ILE1234VAL 1249 1249 GLY GLU CYSTIC FIBROSIS CFTR - GLY1249GLU 1251 1251 SER ASN CYSTIC FIBROSIS CFTR - SER1251ASN 1255 1255 SER PRO CYSTIC FIBROSIS CFTR - SER1255PRO 1303 1303 ASN HIS CYSTIC FIBROSIS CFTR - ASN1303HIS 553 553 ARG GLN CYSTIC FIBROSIS CFTR - ARG553GLN 997 997 LEU PHE PANCREATITIS - IDIOPATHIC - SUSCEPTIBILITY TO HYPERTRYPSINEMIA - NEONATAL - SUSCEPTIBILITY TO - INCLUDED CFTR - LEU997PHE 445 445 ALA GLU CYSTIC FIBROSIS CFTR - ALA445GLU 1352 1352 GLN HIS CYSTIC FIBROSIS CFTR - GLN1352HIS 217 217 GLU GLY CYSTIC FIBROSIS CFTR - GLU217GLY 912 912 SER LEU CYSTIC FIBROSIS CFTR - GLY1244VAL AND SER912LEU 1244 1244 GLY VAL CYSTIC FIBROSIS CFTR - GLY1244VAL AND SER912LEU 561 561 ALA GLU CYSTIC FIBROSIS CFTR - ALA561GLU 945 945 ILE THR VESICOURETERAL REFLUX 2 ROBO2 - ILE945THR 1236 1236 ALA THR VESICOURETERAL REFLUX 2 ROBO2 - ALA1236THR 50 50 GLU LYS GLAUCOMA 1 - OPEN ANGLE - E OPTN - GLU50LYS 545 545 ARG GLN GLAUCOMA 1 - OPEN ANGLE - E OPTN - ARG545GLN 98 98 MET LYS GLAUCOMA - NORMAL TENSION - SUSCEPTIBILITY TO GLAUCOMA 1 - OPEN ANGLE - E - INCLUDED OPTN - MET98LYS 478 478 GLU GLY AMYOTROPHIC LATERAL SCLEROSIS 12 OPTN - GLU478GLY 115 114 LEU PRO CATARACT - LAMELLAR HSF4 - LEU115PRO 120 119 ARG CYS CATARACT - MARNER TYPE HSF4 - ARG120CYS 20 19 ALA ASP CATARACT - LAMELLAR HSF4 - ALA20ASP 87 86 ILE VAL CATARACT - LAMELLAR HSF4 - ILE87VAL 49 49 SER PRO ENCEPHALOPATHY - FAMILIAL - WITH NEUROSERPIN INCLUSION BODIES SERPINI1 - SER49PRO 52 52 SER ARG ENCEPHALOPATHY - FAMILIAL - WITH NEUROSERPIN INCLUSION BODIES SERPINI1 - SER52ARG 338 338 HIS ARG ENCEPHALOPATHY - FAMILIAL - WITH NEUROSERPIN INCLUSION BODIES SERPINI1 - HIS338ARG 392 392 GLY GLU ENCEPHALOPATHY - FAMILIAL - WITH NEUROSERPIN INCLUSION BODIES SERPINI1 - GLY392GLU 392 392 GLY ARG ENCEPHALOPATHY - FAMILIAL - WITH NEUROSERPIN INCLUSION BODIES SERPINI1 - GLY392ARG 311 311 CYS SER PARAOXONASE 2 POLYMORPHISM PON2 - CYS311SER 148 148 ALA GLY PARAOXONASE 2 POLYMORPHISM PON2 - ALA148GLY 492 492 SER TYR COLORECTAL CANCER WITH CHROMOSOMAL INSTABILITY BUB1 - SER492TYR 105 105 CYS TRP INFECTIONS - RECURRENT - ASSOCIATED WITH ENCEPHALOPATHY - HEPATIC DYSFUNCTION - AND CARDIOVASCULAR MALFORMATIONS FADD - CYS105TRP 298 311 LEU PHE DEAFNESS - AUTOSOMAL DOMINANT 15 POU4F3 - LEU298PHE 223 236 LEU PRO DEAFNESS - AUTOSOMAL DOMINANT 15 POU4F3 - LEU223PRO 264 264 ARG CYS LISSENCEPHALY 3 TUBA1A - ARG264CYS 402 402 ARG HIS LISSENCEPHALY 3 TUBA1A - ARG402HIS 188 188 ILE LEU LISSENCEPHALY 3 TUBA1A - ILE188LEU 263 263 PRO THR LISSENCEPHALY 3 TUBA1A - PRO263THR 419 419 SER LEU LISSENCEPHALY 3 TUBA1A - SER419LEU 397 397 LEU PRO LISSENCEPHALY 3 TUBA1A - LEU397PRO 422 422 ARG CYS LISSENCEPHALY 3 TUBA1A - ARG422CYS 422 422 ARG HIS LISSENCEPHALY 3 TUBA1A - ARG422HIS 166 166 LEU PRO PARKINSON DISEASE 7 - AUTOSOMAL RECESSIVE EARLY-ONSET PARK7 - LEU166PRO 26 26 MET ILE PARKINSON DISEASE 7 - AUTOSOMAL RECESSIVE EARLY-ONSET PARK7 - MET26ILE 149 149 ASP ALA PARKINSON DISEASE 7 - AUTOSOMAL RECESSIVE EARLY-ONSET PARK7 - ASP149ALA 64 64 GLU ASP PARKINSON DISEASE 7 - AUTOSOMAL RECESSIVE EARLY-ONSET PARK7 - GLU64ASP 163 163 GLU LYS PARKINSON DISEASE 7 - AUTOSOMAL RECESSIVE EARLY-ONSET PARK7 - GLU163LYS AND 18-BP DUP 39 39 ALA SER PARKINSON DISEASE - AUTOSOMAL RECESSIVE EARLY-ONSET - DIGENIC - PINK1/DJ1 PARK7 - ALA39SER 240 240 THR ARG PARKINSON DISEASE 2 - AUTOSOMAL RECESSIVE JUVENILE PARK2 - THR240ARG 161 161 LYS ASN PARKINSON DISEASE 2 - AUTOSOMAL RECESSIVE JUVENILE PARK2 - LYS161ASN 82 82 ALA GLU PARKINSON DISEASE 2 - AUTOSOMAL RECESSIVE JUVENILE PARK2 - ALA82GLU 212 212 CYS TYR PARKINSON DISEASE 2 - AUTOSOMAL RECESSIVE JUVENILE PARK2 - CYS212TYR 56 56 VAL GLU PARKINSON DISEASE 2 - AUTOSOMAL RECESSIVE JUVENILE PARK2 - VAL56GLU 275 275 ARG TRP PARKINSON DISEASE 2 - AUTOSOMAL RECESSIVE JUVENILE PARK2 - ARG275TRP 211 211 LYS ASN PARKINSON DISEASE 2 - AUTOSOMAL RECESSIVE JUVENILE PARK2 - LYS211ASN 240 240 THR MET PARKINSON DISEASE 2 - AUTOSOMAL RECESSIVE JUVENILE PARK2 - THR240MET 22 49 ILE MET NEURAL TUBE DEFECTS - FOLATE-SENSITIVE - SUSCEPTIBILITY TO DOWN SYNDROME - SUSCEPTIBILITY TO - INCLUDED MTRR - ILE22MET 487 514 GLY ARG HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM - cblE COMPLEMENTATION TYPE MTRR - GLY487ARG 454 481 SER LEU HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM - cblE COMPLEMENTATION TYPE MTRR - SER454LEU 70 70 VAL MET DEMENTIA - LEWY BODY SNCB - VAL70MET 123 123 PRO HIS DEMENTIA - LEWY BODY SNCB - PRO123HIS 1820 1820 LEU THR DEAFNESS - AUTOSOMAL DOMINANT 12 TECTA - LEU1820THR AND GLY1824ASP 1824 1824 GLY ASP DEAFNESS - AUTOSOMAL DOMINANT 12 TECTA - LEU1820THR AND GLY1824ASP 1870 1870 TYR CYS DEAFNESS - AUTOSOMAL DOMINANT 8 TECTA - TYR1870CYS 1057 1057 CYS SER DEAFNESS - AUTOSOMAL DOMINANT 12 TECTA - CYS1057SER 1619 1619 CYS SER DEAFNESS - AUTOSOMAL DOMINANT 12 TECTA - CYS1619SER 1837 1837 CYS GLY DEAFNESS - AUTOSOMAL DOMINANT 12 TECTA - CYS1837GLY 2021 2021 ARG HIS DEAFNESS - AUTOSOMAL DOMINANT 12 TECTA - ARG2021HIS 1890 1890 ARG CYS DEAFNESS - AUTOSOMAL DOMINANT 12 TECTA - ARG1890CYS 1837 1837 CYS ARG DEAFNESS - AUTOSOMAL DOMINANT 12 TECTA - CYS1837ARG 246 246 ASN LYS NAIL-PATELLA SYNDROME LMX1B - ASN246LYS 95 95 CYS PHE NAIL-PATELLA SYNDROME LMX1B - CYS95PHE 200 200 ARG GLN NAIL-PATELLA SYNDROME LMX1B - ARG200GLN 188 188 PHE LEU SPONDYLOCOSTAL DYSOSTOSIS 3 - AUTOSOMAL RECESSIVE LFNG - PHE188LEU 952 952 ARG GLN MYOCARDIAL INFARCTION - SUSCEPTIBILITY TO - 1 LRP8 - ARG952GLN 167 167 LYS ASN MYOCARDIAL INFARCTION - SUSCEPTIBILITY TO LOX1 - LYS167ASN 34 33 LEU PHE OBESITY - SUSCEPTIBILITY TO CART - LEU34PHE 290 290 SER PHE CONGENITAL DISORDER OF GLYCOSYLATION - TYPE IIa MGAT2 - SER290PHE 262 262 HIS ARG CONGENITAL DISORDER OF GLYCOSYLATION - TYPE IIa MGAT2 - HIS262ARG 318 318 ASN ASP CONGENITAL DISORDER OF GLYCOSYLATION - TYPE IIa MGAT2 - ASN318ASP 65 65 ALA VAL BAMFORTH-LAZARUS SYNDROME FOXE1 - ALA65VAL 57 57 SER ASN HYPOTHYROIDISM - ATHYROIDAL - WITH SPIKY HAIR AND CLEFT PALATE FOXE1 - SER57ASN 102 102 ARG CYS HYPOTHYROIDISM - THYROIDAL - WITH SPIKY HAIR AND CLEFT PALATE FOXE1 - ARG102CYS 28 157 SER CYS HOLOPROSENCEPHALY 4 TGIF - SER28CYS 63 192 PRO ARG HOLOPROSENCEPHALY 4 TGIF - PRO63ARG 151 280 THR ALA HOLOPROSENCEPHALY 4 TGIF - THR151ALA 162 291 SER PHE HOLOPROSENCEPHALY 4 TGIF - SER162PHE 107 236 GLN LEU HOLOPROSENCEPHALY 4 TGIF - GLN107LEU 233 233 SER PHE LUNG CANCER - SOMATIC SLC22A1L - SER233PHE 199 199 MET LYS OSTEOPETROSIS - AUTOSOMAL RECESSIVE 2 TNFSF11 - MET199LYS 87 87 CYS TYR PAGET DISEASE - JUVENILE TNFRSF11B - CYS87TYR 117 117 PHE LEU PAGET DISEASE - JUVENILE TNFRSF11B - PHE117LEU 262 262 ARG CYS FIBROSIS OF EXTRAOCULAR MUSCLES - CONGENITAL - 3A - WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT TUBB3 - ARG262CYS 302 302 ALA THR FIBROSIS OF EXTRAOCULAR MUSCLES - CONGENITAL - 3A - WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT TUBB3 - ALA302THR 417 417 ASP HIS FIBROSIS OF EXTRAOCULAR MUSCLES - CONGENITAL - 3A - WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT TUBB3 - ASP417HIS 417 417 ASP ASN FIBROSIS OF EXTRAOCULAR MUSCLES - CONGENITAL - 3A - WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT TUBB3 - ASP417ASN 410 410 GLU LYS FIBROSIS OF EXTRAOCULAR MUSCLES - CONGENITAL - 3A - WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT TUBB3 - GLU410LYS 892 892 ILE PHE DEAFNESS - AUTOSOMAL RECESSIVE 3 MYO15A - ILE892PHE 890 890 ASN TYR DEAFNESS - AUTOSOMAL RECESSIVE 3 MYO15A - ASN890TYR 2716 2716 GLN HIS DEAFNESS - AUTOSOMAL RECESSIVE 3 MYO15A - GLN2716HIS 2205 2205 THR ILE DEAFNESS - WITH SMITH-MAGENIS SYNDROME MYO15A - THR2205ILE 1831 1831 GLY VAL DEAFNESS - AUTOSOMAL RECESSIVE 3 MYO15A - GLY1831VAL 171 171 ILE VAL APLASTIC ANEMIA LYMPHOBLASTIC LEUKEMIA - ACUTE - SUSCEPTIBILITY TO - INCLUDED NBN - ILE171VAL 215 215 ARG TRP NIJMEGEN BREAKAGE SYNDROME NBN - ARG215TRP 13 13 SER ASN CATARACT - CONGENITAL PITX3 - SER13ASN 339 339 GLY CYS GLYCOGEN STORAGE DISEASE Ib SLC37A4 - GLY339CYS 118 118 TRP ARG GLYCOGEN STORAGE DISEASE Ib SLC37A4 - TRP118ARG 28 28 ARG HIS GLYCOGEN STORAGE DISEASE Ib SLC37A4 - ARG28HIS 339 339 GLY ASP GLYCOGEN STORAGE DISEASE Ib SLC37A4 - GLY339ASP 59 59 ARG CYS PROSTATE CANCER - SOMATIC MAD1L1 - ARG59CYS 81 81 PRO LEU PARAGANGLIOMAS 1 PHEOCHROMOCYTOMA - SOMATIC - INCLUDED;; PARAGANGLIOMAS - FAMILIAL - WITH SENSORINEURAL HEARING LOSS - INCLUDED SDHD - PRO81LEU 92 92 ASP TYR PARAGANGLIOMAS 1 PHEOCHROMOCYTOMA - INCLUDED SDHD - ASP92TYR 102 102 HIS LEU PARAGANGLIOMAS 1 SDHD - HIS102LEU 114 114 TYR CYS PARAGANGLIOMAS 1 SDHD - TYR114CYS 12 12 GLY SER COWDEN-LIKE SYNDROME PARAGANGLIOMAS 1 - INCLUDED;; CARCINOID TUMORS - INTESTINAL - INCLUDED;; PHEOCHROMOCYTOMA - INCLUDED SDHD - GLY12SER 1 1 MET ILE PARAGANGLIOMAS 1 SDHD - MET1ILE 139 139 LEU PRO PARAGANGLIOMAS 1 SDHD - LEU139PRO 50 50 HIS ARG CARCINOID TUMORS - INTESTINAL PHEOCHROMOCYTOMA - INCLUDED; MERKEL CELL CARCINOMA - SOMATIC - INCLUDED; COWDEN-LIKE SYNDROME - INCLUDED SDHD - HIS50ARG 1 1 MET VAL PARAGANGLIOMA - CAROTID BODY - SOMATIC SDHD - MET1VAL 145 145 HIS ASN COWDEN-LIKE SYNDROME SDHD - HIS145ASN 2221 2221 PRO GLN COLORECTAL CANCER - SOMATIC EP300 - PRO2221GLN 819 819 ASP VAL NEPHROTIC SYNDROME - TYPE 1 NPHS1 - GLU447LYS AND ASP819VAL 447 447 GLU LYS NEPHROTIC SYNDROME - TYPE 1 NPHS1 - GLU447LYS AND ASP819VAL 265 265 CYS ARG NEPHROTIC SYNDROME - TYPE 1 NPHS1 - CYS265ARG 822 822 VAL MET NEPHROTIC SYNDROME - TYPE 1 NPHS1 - VAL822MET 762 762 ARG GLN OSTEOPETROSIS - AUTOSOMAL RECESSIVE 4 CLCN7 - ARG762GLN 766 766 LEU PRO OSTEOPETROSIS - AUTOSOMAL RECESSIVE 4 CLCN7 - LEU766PRO 767 767 ARG TRP OSTEOPETROSIS - AUTOSOMAL DOMINANT 2 CLCN7 - ARG767TRP 261 261 ILE PHE OSTEOPETROSIS - AUTOSOMAL RECESSIVE 4 CLCN7 - ILE261PHE 40 40 ARG HIS HETEROTAXY - VISCERAL - 4 - AUTOSOMAL ACVR2B - ARG40HIS 494 494 VAL ILE HETEROTAXY - VISCERAL - 4 - AUTOSOMAL ACVR2B - VAL494ILE 115 116 CYS SER ALDH9A1*2 POLYMORPHISM ALDH9A1 - CYS115SER 302 302 ARG GLN WOLFF-PARKINSON-WHITE SYNDROME CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 6 - INCLUDED PRKAG2 - ARG302GLN 142 142 HIS ARG CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 6 PRKAG2 - HIS142ARG 400 400 THR ASN CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 6 PRKAG2 - THR400ASN 488 488 ASN ILE CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 6 PRKAG2 - ASN488ILE 531 531 ARG GLY WOLFF-PARKINSON-WHITE SYNDROME - CHILDHOOD-ONSET PRKAG2 - ARG531GLY 531 531 ARG GLN GLYCOGEN STORAGE DISEASE OF HEART - LETHAL CONGENITAL PRKAG2 - ARG531GLN 487 487 TYR HIS CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 6 PRKAG2 - TYR487HIS 530 530 HIS ARG CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 6 PRKAG2 - HIS530ARG 506 506 GLU GLN CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 6 PRKAG2 - GLU506GLN 548 548 SER PRO CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 6 PRKAG2 - SER548PRO 211 211 ARG HIS RHIZOMELIC CHONDRODYSPLASIA PUNCTATA - TYPE 2 GNPAT - ARG211HIS 211 211 ARG CYS RHIZOMELIC CHONDRODYSPLASIA PUNCTATA - TYPE 2 GNPAT - ARG211CYS 72 72 ALA VAL FIBROSIS OF EXTRAOCULAR MUSCLES - CONGENITAL - 2 ARIX - ALA72VAL 407 407 GLU LYS MONILETHRIX KRT82 - GLU407LYS 78 78 ARG HIS ECTODERMAL DYSPLASIA - 'PURE' HAIR-NAIL TYPE KRT85 - ARG78HIS 385 385 GLY ASP SPONDYLOCOSTAL DYSOSTOSIS 1 - AUTOSOMAL RECESSIVE DLL3 - GLY385ASP 504 504 GLY ASP SPONDYLOCOSTAL DYSOSTOSIS 1 - AUTOSOMAL RECESSIVE DLL3 - GLY504ASP 98 98 PRO LEU 46 -XY GONADAL DYSGENESIS - COMPLETE - CBX2-RELATED CBX2 - PRO98LEU 443 443 ARG PRO 46 -XY GONADAL DYSGENESIS - COMPLETE - CBX2-RELATED CBX2 - ARG443PRO 258 258 ARG HIS FANCONI ANEMIA - COMPLEMENTATION GROUP O RAD51C - ARG258HIS 125 125 GLY VAL BREAST-OVARIAN CANCER - FAMILIAL - SUSCEPTIBILITY TO - 3 RAD51C - GLY125VAL 138 138 LEU PHE BREAST-OVARIAN CANCER - FAMILIAL - SUSCEPTIBILITY TO - 3 RAD51C - LEU138PHE 2 2 SER GLY NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR SHOC2 - SER2GLY 692 692 SER THR SPASTIC PARAPLEGIA 7 - AUTOSOMAL RECESSIVE SPG7 - SER692THR 349 349 GLY SER SPASTIC PARAPLEGIA 7 - AUTOSOMAL RECESSIVE SPG7 - GLY349SER 583 583 TRP CYS SPASTIC PARAPLEGIA 7 - AUTOSOMAL RECESSIVE SPG7 - TRP583CYS 256 256 ASN SER SPASTIC PARAPLEGIA 10 KIF5A - ASN256SER 280 280 ARG CYS SPASTIC PARAPLEGIA 10 KIF5A - ARG280CYS 276 276 TYR CYS SPASTIC PARAPLEGIA 10 KIF5A - TYR276CYS 361 361 ALA VAL SPASTIC PARAPLEGIA 10 KIF5A - ALA361VAL 6044 6044 TYR CYS USHER SYNDROME - TYPE IIC GPR98 - TYR6044CYS 119 119 HIS LEU SMITH-LEMLI-OPITZ SYNDROME DHCR7 - HIS119LEU 244 244 GLY ARG SMITH-LEMLI-OPITZ SYNDROME DHCR7 - GLY244ARG 248 248 TRP CYS SMITH-LEMLI-OPITZ SYNDROME DHCR7 - TRP248CYS 93 93 THR MET SMITH-LEMLI-OPITZ SYNDROME DHCR7 - THR93MET 326 326 VAL LEU SMITH-LEMLI-OPITZ SYNDROME DHCR7 - VAL326LEU 352 352 ARG TRP SMITH-LEMLI-OPITZ SYNDROME DHCR7 - ARG352TRP 404 404 ARG CYS SMITH-LEMLI-OPITZ SYNDROME DHCR7 - ARG404CYS 289 289 THR ILE SMITH-LEMLI-OPITZ SYNDROME DHCR7 - THR289ILE 280 280 TYR CYS SMITH-LEMLI-OPITZ SYNDROME DHCR7 - TYR280CYS 1 1 MET LEU SMITH-LEMLI-OPITZ SYNDROME - MILD DHCR7 - MET1LEU 448 448 GLU LYS SMITH-LEMLI-OPITZ SYNDROME - MILD DHCR7 - GLU448LYS 284 284 PHE LEU SMITH-LEMLI-OPITZ SYNDROME - MILD DHCR7 - PHE284LEU 1 1 MET VAL SMITH-LEMLI-OPITZ SYNDROME - MILD DHCR7 - MET1VAL 352 352 ARG GLN SMITH-LEMLI-OPITZ SYNDROME DHCR7 - ARG352GLN 290 290 HIS GLN NEONATAL ADRENOLEUKODYSTROPHY PEX10 - HIS290GLN 40 40 THR MET COLORECTAL CANCER BUB1B - THR40MET 844 844 LEU PHE MOSAIC VARIEGATED ANEUPLOIDY SYNDROME PREMATURE CHROMATID SEPARATION TRAIT - INCLUDED BUB1B - LEU844PHE 921 921 GLN HIS MOSAIC VARIEGATED ANEUPLOIDY SYNDROME PREMATURE CHROMATID SEPARATION TRAIT - INCLUDED BUB1B - GLN921HIS 814 814 ARG HIS MOSAIC VARIEGATED ANEUPLOIDY SYNDROME PREMATURE CHROMATID SEPARATION TRAIT - INCLUDED BUB1B - ARG814HIS 1012 1012 LEU PRO MOSAIC VARIEGATED ANEUPLOIDY SYNDROME PREMATURE CHROMATID SEPARATION TRAIT - INCLUDED BUB1B - LEU1012PRO 550 550 ARG GLN MOSAIC VARIEGATED ANEUPLOIDY SYNDROME PREMATURE CHROMATID SEPARATION TRAIT - INCLUDED BUB1B - ARG550GLN 219 219 PHE SER BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA OCLN - PHE219SER 267 267 CYS TYR DOUBLE-OUTLET RIGHT VENTRICLE GDF1 - CYS267TYR 162 162 GLY ASP TETRALOGY OF FALLOT GDF1 - GLY162ASP 809 817 ASP GLY IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME DNMT3B - ASP809GLY 810 818 VAL MET IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME DNMT3B - VAL810MET 718 726 VAL GLY IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME DNMT3B - VAL718GLY 655 663 GLY SER IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME DNMT3B - GLY655SER 656 664 LEU THR IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME DNMT3B - LEU656THR 603 603 ALA THR IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME DNMT3B - ALA603THR 726 726 VAL GLY IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME DNMT3B - VAL726GLY 832 840 ARG GLN IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME DNMT3B - ARG832GLN 282 282 SER PRO IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME DNMT3B - SER282PRO 264 264 GLY VAL GLYCEROL RELEASE DURING EXERCISE - DEFECTIVE AQP9 - GLY264VAL 544 544 GLY ASP EPILEPTIC ENCEPHALOPATHY - EARLY INFANTILE - 4 STXBP1 - GLY544ASP 180 180 CYS TYR EPILEPTIC ENCEPHALOPATHY - EARLY INFANTILE - 4 STXBP1 - CYS180TYR 443 443 MET ARG EPILEPTIC ENCEPHALOPATHY - EARLY INFANTILE - 4 STXBP1 - MET443ARG 84 84 VAL ASP EPILEPTIC ENCEPHALOPATHY - EARLY INFANTILE - 4 STXBP1 - VAL84ASP 129 129 PRO THR DRUG ADDICTION - SUSCEPTIBILITY TO FAAH - PRO129THR 76 76 MET VAL HYPERCHOLANEMIA - FAMILIAL BAAT - MET76VAL 228 228 ARG GLN MITOCHONDRIAL COMPLEX I DEFICIENCY NDUFS2 - ARG228GLN 229 229 PRO GLN MITOCHONDRIAL COMPLEX I DEFICIENCY NDUFS2 - PRO229GLN 413 413 SER PRO MITOCHONDRIAL COMPLEX I DEFICIENCY NDUFS2 - SER413PRO 222 222 TYR CYS SYMPHALANGISM - PROXIMAL NOG - TYR222CYS 222 222 TYR ASP SYMPHALANGISM - PROXIMAL NOG - TYR222ASP 217 217 TRP GLY MULTIPLE SYNOSTOSES SYNDROME 1 NOG - TRP217GLY 223 223 PRO LEU SYMPHALANGISM - PROXIMAL NOG - PRO223LEU 189 189 GLY CYS SYMPHALANGISM - PROXIMAL NOG - GLY189CYS 204 204 ARG LEU TARSAL-CARPAL COALITION SYNDROME NOG - ARG204LEU 35 35 PRO ARG TARSAL-CARPAL COALITION SYNDROME SYMPHALANGISM - PROXIMAL - INCLUDED NOG - PRO35ARG 222 222 TYR CYS TARSAL-CARPAL COALITION SYNDROME SYMPHALANGISM - PROXIMAL - INCLUDED NOG - TYR222CYS 184 184 CYS TYR SYMPHALANGISM - PROXIMAL NOG - CYS184TYR 35 35 PRO SER SYMPHALANGISM - PROXIMAL BRACHYDACTYLY - TYPE B2 - INCLUDED;; STAPES ANKYLOSIS WITH BROAD THUMB AND TOES - INCLUDED NOG - PRO35SER 205 205 TRP CYS MULTIPLE SYNOSTOSES SYNDROME 1 NOG - TRP205CYS 35 35 PRO ALA BRACHYDACTYLY - TYPE B2 NOG - PRO35ALA 167 167 ARG GLY BRACHYDACTYLY - TYPE B2 NOG - ARG167GLY 232 232 CYS TRP MULTIPLE SYNOSTOSES SYNDROME 1 NOG - CYS232TRP 1297 1297 PRO LEU MEGALOBLASTIC ANEMIA 1 - FINNISH TYPE CUBN - PRO1297LEU 48 48 THR ARG SPONDYLODYSPLASIA AND PREMATURE PUBARCHE PAPSS2 - THR48ARG 1298 1298 ILE VAL MIYOSHI MYOPATHY MUSCULAR DYSTROPHY - LIMB-GIRDLE - TYPE 2B - INCLUDED DYSF - ILE1298VAL 2042 2042 ARG CYS MIYOSHI MYOPATHY MUSCULAR DYSTROPHY - LIMB-GIRDLE - TYPE 2B - INCLUDED DYSF - ARG2042CYS 791 791 PRO ARG MUSCULAR DYSTROPHY - LIMB-GIRDLE - TYPE 2B MIYOSHI MYOPATHY - INCLUDED DYSF - PRO791ARG 67 67 VAL ASP MUSCULAR DYSTROPHY - LIMB-GIRDLE - TYPE 2B DYSF - VAL67ASP 999 999 TRP CYS MIYOSHI MYOPATHY DYSF - TRP999CYS 1046 1046 ARG HIS MIYOSHI MYOPATHY DYSF - ARG1046HIS 625 625 ASP TYR MUSCULAR DYSTROPHY - LIMB-GIRDLE - TYPE 2B DYSF - ASP625TYR 1734 1734 GLU GLY MUSCULAR DYSTROPHY - LIMB-GIRDLE - TYPE 2B DYSF - GLU1734GLY 519 519 GLY ARG MIYOSHI MYOPATHY DYSF - GLY519ARG 299 299 GLY ARG MUSCULAR DYSTROPHY - LIMB-GIRDLE - TYPE 2B DYSF - GLY299ARG 299 299 GLY TRP MIYOSHI MYOPATHY DYSF - GLY299TRP 677 677 ARG TRP LEPROSY - SUSCEPTIBILITY TO - 3 TLR2 - ARG677TRP 554 554 PRO SER HERPES SIMPLEX ENCEPHALITIS - SUSCEPTIBILITY TO - 2 TLR3 - PRO554SER 299 299 ASP GLY ENDOTOXIN HYPORESPONSIVENESS MACULAR DEGENERATION - AGE-RELATED - 10 - SUSCEPTIBILITY TO - INCLUDED;; COLORECTAL CANCER - SUSCEPTIBILITY TO - INCLUDED TLR4 - ASP299GLY 399 399 THR ILE ENDOTOXIN HYPORESPONSIVENESS TLR4 - THR399ILE 592 592 ASN SER LEGIONNAIRE DISEASE - SUSCEPTIBILITY TO TLR5 - ASN592SER 431 430 TYR SER ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY COLQ - TYR431SER 419 419 ARG HIS RHIZOMELIC CHONDRODYSPLASIA PUNCTATA - TYPE 3 AGPS - ARG419HIS 309 309 THR ILE RHIZOMELIC CHONDRODYSPLASIA PUNCTATA - TYPE 3 AGPS - THR309ILE 469 469 LEU PRO RHIZOMELIC CHONDRODYSPLASIA PUNCTATA - TYPE 3 AGPS - LEU469PRO 223 223 ASN SER LYSYL HYDROXYLASE 3 DEFICIENCY PLOD3 - ASN223SER 31 31 PHE ILE COLON CANCER - SUSCEPTIBILITY TO AURKA - PHE31ILE 271 271 ARG GLY P BLOOD GROUP SYSTEM - P(k) PHENOTYPE B3GALT3 - ARG271GLY 266 266 GLU ALA P BLOOD GROUP SYSTEM - P(k) PHENOTYPE B3GALT3 - GLU266ALA 228 228 LEU PRO LIPODYSTROPHY - CONGENITAL GENERALIZED - TYPE 1 AGPAT2 - LEU228PRO 178 178 GLY ASP CARBOXYPEPTIDASE N DEFICIENCY CPN1 - GLY178ASP 90 90 GLY ASP LUNG CANCER PPP2R1B - GLY90ASP 446 446 GLY ARG METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY ALDH6A1 - GLY446ARG 66 66 VAL GLY DEAFNESS - AUTOSOMAL DOMINANT 9 COCH - VAL66GLY 88 88 GLY GLU DEAFNESS - AUTOSOMAL DOMINANT 9 COCH - GLY88GLU 117 117 TRP ARG DEAFNESS - AUTOSOMAL DOMINANT 9 COCH - TRP117ARG 51 51 PRO SER DEAFNESS - AUTOSOMAL DOMINANT 9 COCH - PRO51SER 109 109 ILE ASN DEAFNESS - AUTOSOMAL DOMINANT 9 COCH - ILE109ASN 119 119 ALA THR DEAFNESS - AUTOSOMAL DOMINANT 9 COCH - ALA119THR 542 542 CYS PHE DEAFNESS - AUTOSOMAL DOMINANT 9 COCH - CYS542PHE 542 542 CYS TYR DEAFNESS - AUTOSOMAL DOMINANT 9 COCH - CYS542TYR 512 512 MET THR DEAFNESS - AUTOSOMAL DOMINANT 9 COCH - MET512THR 1012 1051 MET VAL SPASTIC PARAPLEGIA 39 - AUTOSOMAL RECESSIVE PNPLA6 - MET1012VAL 890 929 ARG HIS SPASTIC PARAPLEGIA 39 - AUTOSOMAL RECESSIVE NTE - ARG890HIS 121 121 ASP VAL BARE LYMPHOCYTE SYNDROME - TYPE II - COMPLEMENTATION GROUP B RFXANK - ASP121VAL 297 297 GLU GLY CHOLESTASIS - PROGRESSIVE FAMILIAL INTRAHEPATIC 2 CHOLESTASIS - BENIGN RECURRENT INTRAHEPATIC 2 - INCLUDED ABCB11 - GLU297GLY 432 432 ARG THR CHOLESTASIS - BENIGN RECURRENT INTRAHEPATIC 2 ABCB11 - ARG432THR 268 268 GLN HIS LACTASE DEFICIENCY - CONGENITAL LCT - GLN268HIS 162 162 ARG TRP SNOWFLAKE VITREORETINAL DEGENERATION KCNJ13 - ARG162TRP 287 287 ARG TRP CATARACT - AUTOSOMAL DOMINANT - MULTIPLE TYPES 1 BFSP2 - ARG287TRP 1138 1138 ARG GLN PSEUDOXANTHOMA ELASTICUM ABCC6 - ARG1138GLN 1114 1114 ARG PRO PSEUDOXANTHOMA ELASTICUM ABCC6 - ARG1114PRO 1314 1314 ARG TRP PSEUDOXANTHOMA ELASTICUM ABCC6 - ARG1314TRP 1268 1268 ARG GLN PSEUDOXANTHOMA ELASTICUM ABCC6 - ARG1268GLN 1138 1138 ARG TRP PSEUDOXANTHOMA ELASTICUM ABCC6 - ARG1138TRP 1339 1339 ARG CYS PSEUDOXANTHOMA ELASTICUM ABCC6 - ARG1339CYS 1459 1459 ARG CYS PSEUDOXANTHOMA ELASTICUM ABCC6 - ARG1459CYS 1298 1298 VAL PHE PSEUDOXANTHOMA ELASTICUM ABCC6 - VAL1298PHE 1302 1302 GLY ARG PSEUDOXANTHOMA ELASTICUM ABCC6 - GLY1302ARG 1321 1321 GLY SER PSEUDOXANTHOMA ELASTICUM ABCC6 - GLY1321SER 1238 1238 ASP HIS PSEUDOXANTHOMA ELASTICUM ABCC6 - ASP1238HIS 1130 1130 THR MET PSEUDOXANTHOMA ELASTICUM ABCC6 - THR1130MET 200 200 ILE LYS BRACHYDACTYLY - TYPE A2 BMPR1B - ILE200LYS 486 486 ARG TRP BRACHYDACTYLY - TYPE A2 BMPR1B - ARG486TRP 486 486 ARG GLN BRACHYDACTYLY - TYPE 2A BMPR1B - ARG486GLN 143 143 GLU LYS HYPERCHLORHIDROSIS - ISOLATED CA12 - GLU143LYS 204 243 ARG TRP ECTRODACTYLY - ECTODERMAL DYSPLASIA - AND CLEFT LIP/PALATE SYNDROME 3 TP63 - ARG204TRP 204 243 ARG GLN ECTRODACTYLY - ECTODERMAL DYSPLASIA - AND CLEFT LIP/PALATE SYNDROME 3 TP63 - ARG204GLN 306 345 CYS ARG ECTRODACTYLY - ECTODERMAL DYSPLASIA - AND CLEFT LIP/PALATE SYNDROME 3 TP63 - CYS306ARG 194 233 LYS GLU SPLIT-HAND/FOOT MALFORMATION 4 TP63 - LYS194GLU 280 319 ARG CYS SPLIT-HAND/FOOT MALFORMATION 4 TP63 - ARG280CYS 279 318 ARG HIS ECTRODACTYLY - ECTODERMAL DYSPLASIA - AND CLEFT LIP/PALATE SYNDROME 3 RAPP-HODGKIN SYNDROME - INCLUDED TP63 - ARG279HIS 304 343 ARG GLN ECTRODACTYLY - ECTODERMAL DYSPLASIA - AND CLEFT LIP/PALATE SYNDROME 3 TP63 - ARG304GLN 514 553 LEU PHE ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE TP63 - LEU514PHE 522 561 CYS GLY ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE TP63 - CYS522GLY 6 6 ASN HIS ADULT SYNDROME TP63 - ASN6HIS 298 337 ARG GLN ADULT SYNDROME TP63 - ARG298GLN 312 351 ASP GLY ECTRODACTYLY - ECTODERMAL DYSPLASIA - AND CLEFT LIP/PALATE SYNDROME 3 TP63 - ASP312GLY 510 549 ILE THR ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE RAPP-HODGKIN SYNDROME - INCLUDED TP63 - ILE510THR 545 545 ARG PRO RAPP-HODGKIN SYNDROME TP63 - ARG545PRO 114 114 VAL MET ADULT SYNDROME TP63 - VAL114MET 313 352 ARG GLY OROFACIAL CLEFT 8 TP63 - ARG313GLY 298 337 ARG GLY ADULT SYNDROME TP63 - ARG298GLY 97 97 ARG CYS SPLIT-HAND/FOOT MALFORMATION 4 TP63 - ARG97CYS 227 266 ARG GLN ECTRODACTYLY - ECTODERMAL DYSPLASIA - AND CLEFT LIP/PALATE SYNDROME 3 ADULT SYNDROME - INCLUDED TP63 - ARG227GLN 127 166 PRO LEU ADULT SYNDROME TP63 - PRO127LEU 229 229 ARG TRP PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY PNPO - ARG229TRP 247 247 ASN SER CORNEA PLANA 2 KERA - ASN247SER 215 215 THR LYS CORNEA PLANA 2 KERA - THR215LYS 1991 1991 MET LEU ASPHYXIATING THORACIC DYSTROPHY 3 DYNC2H1 - MET1991LEU 3762 3762 MET VAL ASPHYXIATING THORACIC DYSTROPHY 3 DYNC2H1 - MET3762VAL 3015 3015 ASP GLY ASPHYXIATING THORACIC DYSTROPHY 3 DYNC2H1 - ASP3015GLY 1240 1240 ILE THR ASPHYXIATING THORACIC DYSTROPHY 3 DYNC2H1 - ILE1240THR 587 587 ARG CYS SHORT RIB-POLYDACTYLY SYNDROME - TYPE III DYNC2H1 - ARG587CYS 2205 2205 ARG HIS SHORT RIB-POLYDACTYLY SYNDROME - TYPE III DYNC2H1 - ARG2205HIS 1537 1537 GLN ARG SHORT RIB-POLYDACTYLY - TYPE III DYNC2H1 - GLN1537ARG 2461 2461 GLY VAL SHORT RIB-POLYDACTYLY - TYPE III DYNC2H1 - GLY2461VAL 1987 1987 THR ALA SHORT RIB-POLYDACTYLY - TYPE III DYNC2H1 - THR1987ALA 3916 3916 GLY ASP SHORT RIB-POLYDACTYLY - TYPE II - DIGENIC DYNC2H1 - GLY3916ASP 349 355 ALA SER MATURITY-ONSET DIABETES OF THE YOUNG - TYPE 7 KLF11 - ALA349SER 220 226 THR MET MATURITY-ONSET DIABETES OF THE YOUNG - TYPE 7 KLF11 - THR220MET 447 446 ILE VAL LONG QT SYNDROME - ACQUIRED - REDUCED SUSCEPTIBILITY TO KCR1 - ILE447VAL 457 456 ARG GLY DEAFNESS - AUTOSOMAL RECESSIVE 84; DFNB84 PTPRQ - ARG457GLY 12 12 GLY ARG ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA GJB3 - GLY12ARG 12 12 GLY ASP ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA GJB3 - GLY12ASP 86 86 CYS SER ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA GJB3 - CYS86SER 183 183 GLU LYS DEAFNESS - AUTOSOMAL DOMINANT 2B GJB3 - GLU183LYS 141 141 ILE VAL DEAFNESS - AUTOSOMAL RECESSIVE GJB3 - ILE141VAL 42 42 ARG PRO ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA GJB3 - ARG42PRO 34 34 LEU PRO ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA GJB3 - LEU34PRO 166 166 ASN SER DEAFNESS - DIGENIC - GJB2/GJB3 GJB3 - ASN166SER 194 194 ALA THR DEAFNESS - DIGENIC - GJB2/GJB3 GJB3 - ALA194THR 3519 3519 GLY ARG CILIARY DYSKINESIA - PRIMARY - 3 DNAH5 - GLY3519ARG 298 342 ARG SER RENAL TUBULAR ACIDOSIS - PROXIMAL - WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION SLC4A4 - ARG298SER 510 554 ARG HIS RENAL TUBULAR ACIDOSIS - PROXIMAL - WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION SLC4A4 - ARG510HIS 537 537 GLY TRP ERYTHROCYTOSIS - FAMILIAL - 4 EPAS1 - GLY537TRP 537 537 GLY ARG ERYTHROCYTOSIS - FAMILIAL - 4 EPAS1 - GLY537ARG 535 535 MET VAL ERYTHROCYTOSIS - FAMILIAL - 4 EPAS1 - MET535VAL 331 331 TYR CYS ZELLWEGER SYNDROME - COMPLEMENTATION GROUP D - MILD ZELLWEGER SYNDROME - COMPLEMENTATION GROUP 9 - MILD PEX16 - TYR331CYS 569 569 ARG HIS LETHAL CONGENITAL CONTRACTURE SYNDROME 1 GLE1 - ARG569HIS 617 617 VAL MET LETHAL ARTHROGRYOPOSIS WITH ANTERIOR HORN CELL DISEASE GLE1 - VAL617MET 684 684 ILE THR LETHAL ARTHROGRYOPOSIS WITH ANTERIOR HORN CELL DISEASE GLE1 - ILE684THR 36 36 ASP HIS THYROTROPIN RECEPTOR POLYMORPHISM TSHR - ASP36HIS 619 619 ASP GLY THYROID ADENOMA - HYPERFUNCTIONING - SOMATIC TSHR - ASP619GLY 623 623 ALA ILE THYROID ADENOMA - HYPERFUNCTIONING - SOMATIC TSHR - ALA623ILE 631 631 PHE LEU HYPERTHYROIDISM - NONAUTOIMMUNE THYROID ADENOMA - HYPERFUNCTIONING - SOMATIC - INCLUDED TSHR - PHE631LEU 167 167 ILE ASN HYPOTHYROIDISM - CONGENITAL - NONGOITROUS - 1 TSHR - ILE167ASN 162 162 PRO ALA HYPOTHYROIDISM - CONGENITAL - NONGOITROUS - 1 TSHR - PRO162ALA 453 453 MET THR HYPERTHYROIDISM - NONAUTOIMMUNE TSHR - MET453THR 633 633 ASP HIS THYROID CARCINOMA WITH THYROTOXICOSIS TSHR - ASP633HIS 109 109 ARG GLN HYPOTHYROIDISM - CONGENITAL - NONGOITROUS - 1 TSHR - ARG109GLN 410 410 ASP ASN HYPOTHYROIDISM - CONGENITAL - NONGOITROUS - 1 TSHR - ASP410ASN 41 41 CYS SER HYPOTHYROIDISM - CONGENITAL - NONGOITROUS - 1 TSHR - CYS41SER 525 525 PHE LEU HYPOTHYROIDISM - CONGENITAL - NONGOITROUS - 1 TSHR - PHE525LEU 390 390 CYS TRP HYPOTHYROIDISM - CONGENITAL - NONGOITROUS - 1 TSHR - CYS390TRP 553 553 ALA THR HYPOTHYROIDISM - CONGENITAL - NONGOITROUS - 1 TSHR - ALA553THR 281 281 SER ILE THYROID ADENOMA - HYPERFUNCTIONING - SOMATIC TSHR - SER281ILE 509 509 VAL ALA HYPERTHYROIDISM - NONAUTOIMMUNE TSHR - VAL509ALA 672 672 CYS TYR HYPERTHYROIDISM - NONAUTOIMMUNE TSHR - CYS672TYR 505 505 SER ASN HYPERTHYROIDISM - NONAUTOIMMUNE TSHR - SER505ASN 629 629 LEU PHE HYPERTHYROIDISM - NONAUTOIMMUNE THYROID ADENOMA - HYPERFUNCTIONING - SOMATIC - INCLUDED TSHR - LEU629PHE 281 281 SER ASN HYPERTHYROIDISM - NONAUTOIMMUNE TSHR - SER281ASN 183 183 LYS ARG HYPERTHYROIDISM - FAMILIAL GESTATIONAL TSHR - LYS183ARG 639 639 PRO SER HYPERTHYROIDISM - NONAUTOIMMUNE TSHR - PRO639SER 477 477 THR ILE HYPOTHYROIDISM - CONGENITAL - NONGOITROUS - 1 TSHR - THR477ILE 310 310 ARG CYS HYPOTHYROIDISM - CONGENITAL - NONGOITROUS - 1 TSHR - ARG310CYS 431 431 GLY SER HYPERTHYROIDISM - NONAUTOIMMUNE TSHR - GLY431SER 600 600 CYS ARG HYPOTHYROIDISM - CONGENITAL - NONGOITROUS - 1 TSHR - CYS600ARG 467 467 LEU PRO HYPOTHYROIDISM - CONGENITAL - NONGOITROUS - 1 TSHR - LEU467PRO 478 478 PRO LEU CARNITINE DEFICIENCY - SYSTEMIC PRIMARY SLC22A5 - PRO478LEU 211 211 TYR CYS CARNITINE DEFICIENCY - SYSTEMIC PRIMARY SLC22A5 - TYR211CYS 169 169 ARG GLN CARNITINE DEFICIENCY - SYSTEMIC PRIMARY SLC22A5 - ARG169GLN 169 169 ARG TRP CARNITINE DEFICIENCY - SYSTEMIC PRIMARY SLC22A5 - ARG169TRP 351 351 TRP ARG CARNITINE DEFICIENCY - SYSTEMIC PRIMARY SLC22A5 - TRP351ARG 399 399 ARG GLN CARNITINE DEFICIENCY - SYSTEMIC PRIMARY SLC22A5 - ARG399GLN 1 1 MET ILE CARNITINE DEFICIENCY - SYSTEMIC PRIMARY SLC22A5 - MET1ILE 399 399 ARG TRP CARNITINE DEFICIENCY - SYSTEMIC PRIMARY SLC22A5 - ARG399TRP 442 442 ALA ILE CARNITINE DEFICIENCY - SYSTEMIC PRIMARY SLC22A5 - ALA442ILE 15 15 GLY TRP CARNITINE DEFICIENCY - SYSTEMIC PRIMARY SLC22A5 - GLY15TRP 161 161 PHE CYS LARSEN SYNDROME - AUTOSOMAL DOMINANT FLNB - PHE161CYS 1586 1586 GLY ARG LARSEN SYNDROME - AUTOSOMAL DOMINANT FLNB - GLY1586ARG 173 173 ALA VAL ATELOSTEOGENESIS - TYPE I FLNB - ALA173VAL 202 202 MET VAL ATELOSTEOGENESIS - TYPE I ATELOSTEOGENESIS - TYPE III - INCLUDED FLNB - MET202VAL 751 751 GLY ARG ATELOSTEOGENESIS - TYPE III FLNB - GLY751ARG 171 171 LEU ARG BOOMERANG DYSPLASIA FLNBA - LEU171ARG 235 235 SER PRO BOOMERANG DYSPLASIA FLNB - SER235PRO 227 227 GLU LYS LARSEN SYNDROME - AUTOSOMAL DOMINANT FLNB - GLU227LYS 1691 1691 GLY SER LARSEN SYNDROME - AUTOSOMAL DOMINANT FLNB - GLY1691SER 305 305 HIS PRO PIGMENTED NODULAR ADRENOCORTICAL DISEASE - PRIMARY - 3 PDE8B - HIS305PRO 145 145 CYS TYR ARTHROPATHY - PROGRESSIVE PSEUDORHEUMATOID - OF CHILDHOOD WISP3 - CYS145TYR 78 78 CYS ARG ARTHROPATHY - PROGRESSIVE PSEUDORHEUMATOID - OF CHILDHOOD WISP3 - CYS78ARG 334 334 SER PRO SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH PROGRESSIVE ARTHROPATHY WISP3 - SER334PRO 540 539 LEU ARG HERMANSKY-PUDLAK SYNDROME 2 AP3B1 - LEU540ARG 858 869 LEU HIS ERYTHERMALGIA - PRIMARY SCN9A - LEU858HIS 848 859 ILE THR ERYTHERMALGIA - PRIMARY SCN9A - ILE848THR 241 241 SER THR ERYTHERMALGIA - PRIMARY SCN9A - SER241THR 1449 1460 PHE VAL ERYTHERMALGIA - PRIMARY SCN9A - PHE1449VAL 996 1007 ARG CYS PAROXYSMAL EXTREME PAIN DISORDER SCN9A - ARG996CYS 1298 1309 VAL ASP PAROXYSMAL EXTREME PAIN DISORDER SCN9A - VAL1298ASP 1298 1309 VAL PHE PAROXYSMAL EXTREME PAIN DISORDER SCN9A - VAL1298PHE 1299 1310 VAL PHE PAROXYSMAL EXTREME PAIN DISORDER SCN9A - VAL1299PHE 1461 1472 ILE THR PAROXYSMAL EXTREME PAIN DISORDER SCN9A - ILE1461THR 1464 1475 THR ILE PAROXYSMAL EXTREME PAIN DISORDER SCN9A - THR1464ILE 858 869 LEU PHE ERYTHERMALGIA - PRIMARY SCN9A - LEU858PHE 216 216 PHE SER ERYTHERMALGIA - PRIMARY SCN9A - PHE216SER 641 641 ASN TYR GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS - TYPE 7 SCN9A - ASN641TYR 655 666 LYS ARG GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS - TYPE 7 DRAVET SYNDROME - INCLUDED SCN9A - LYS655ARG 62 62 ILE VAL FEBRILE SEIZURES - FAMILIAL - 3B SCN9A - ILE62VAL 149 149 PRO GLN FEBRILE SEIZURES - FAMILIAL - 3B SCN9A - PRO149GLN 10 10 GLN ARG ERYTHERMALGIA - PRIMARY SCN9A - GLN10ARG 222 222 PRO LEU DYSTONIA 16 PRKRA - PRO222LEU 662 662 SER GLY ADVANCED SLEEP-PHASE SYNDROME - FAMILIAL PER2 - SER662GLY 14 14 GLY SER CITRULLINEMIA - CLASSIC ASS - GLY14SER 157 157 ARG HIS CITRULLINEMIA - CLASSIC ASS - ARG157HIS 180 180 SER ASN CITRULLINEMIA - CLASSIC ASS - SER180ASN 324 324 GLY SER CITRULLINEMIA - CLASSIC ASS - GLY324SER 363 363 ARG TRP CITRULLINEMIA - CLASSIC ASS - ARG363TRP 390 390 GLY ARG CITRULLINEMIA - CLASSIC ASS - GLY390ARG 304 304 ARG TRP CITRULLINEMIA - CLASSIC ASS - ARG304TRP 18 18 SER LEU CITRULLINEMIA - CLASSIC ASS - SER18LEU 86 86 ARG CYS CITRULLINEMIA - CLASSIC ASS - ARG86CYS 108 108 ARG LEU CITRULLINEMIA - CLASSIC ASS - ARG108LEU 179 179 TRP ARG CITRULLINEMIA - MILD ASS - TRP179ARG 362 362 GLY VAL CITRULLINEMIA - MILD ASS - GLY362VAL 310 310 LYS GLN CITRULLINEMIA - CLASSIC ASS - LYS310GLN 62 62 ARG TRP DIAMOND-BLACKFAN ANEMIA RPS19 - ARG62TRP 45 45 LEU GLN DIAMOND-BLACKFAN ANEMIA RPS19 - LEU45GLN AND 2-BP INS - 160CT 55 55 THR MET DIAMOND-BLACKFAN ANEMIA RPS19 - VAL15PHE - THR55MET 15 15 VAL PHE DIAMOND-BLACKFAN ANEMIA RPS19 - VAL15PHE - THR55MET 127 127 GLY GLN DIAMOND-BLACKFAN ANEMIA RPS19 - GLY127GLN 395 395 ILE THR LUMBAR DISC DISEASE - SUSCEPTIBILITY TO CILP - ILE395THR 226 226 GLU GLY MULLERIAN APLASIA AND HYPERANDROGENISM WNT4 - GLU226GLY 114 114 ALA VAL SERKAL SYNDROME WNT4 - ALA114VAL 83 83 ARG CYS MULLERIAN APLASIA AND HYPERANDROGENISM WNT4 - ARG83CYS 12 12 LEU PRO MULLERIAN APLASIA AND HYPERANDROGENISM WNT4 - LEU12PRO 229 229 CYS TYR MALE INFERTILITY WITH LARGE-HEADED - MULTIFLAGELLAR - POLYPLOID SPERMATOZOA AURKC - CYS229TYR 170 170 ARG GLY OSTEOPETROSIS - AUTOSOMAL RECESSIVE 7 TNFRSF11A - ARG170GLY 175 175 CYS ARG OSTEOPETROSIS - AUTOSOMAL RECESSIVE 7 TNFRSF11A - CYS175ARG 129 129 ARG CYS OSTEOPETROSIS - AUTOSOMAL RECESSIVE 7 TNFRSF11A - ARG129CYS 244 244 ALA SER OSTEOPETROSIS - AUTOSOMAL RECESSIVE 7 TNFRSF11A - ALA244SER 53 53 GLY ARG OSTEOPETROSIS - AUTOSOMAL RECESSIVE 7 TNFRSF11A - GLY53ARG 92 92 ARG GLY CONGENITAL DISORDER OF GLYCOSYLATION - TYPE Ie DPM1 - ARG92GLY 494 494 ARG GLN OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME LRP5 - ARG494GLN 570 570 ARG TRP OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME LRP5 - ARG570TRP 667 667 VAL MET OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME LRP5 - VAL667MET 171 171 GLY VAL HIGH BONE MASS LRP5 - GLY171VAL 171 171 GLY ARG OSTEOPETROSIS - AUTOSOMAL DOMINANT 1 LRP5 - GLY171ARG 242 242 ALA THR ENDOSTEAL HYPEROSTOSIS - AUTOSOMAL DOMINANT OSTEOPETROSIS - AUTOSOMAL DOMINANT 1 - INCLUDED;; VAN BUCHEM DISEASE - TYPE 2 - INCLUDED LRP5 - ALA242THR 214 214 ALA THR ENDOSTEAL HYPEROSTOSIS - AUTOSOMAL DOMINANT LRP5 - ALA214THR 214 214 ALA VAL OSTEOSCLEROSIS - AUTOSOMAL DOMINANT LRP5 - ALA214VAL 253 253 THR ILE OSTEOPETROSIS - AUTOSOMAL DOMINANT 1 LRP5 - THR253ILE 570 570 ARG GLN EXUDATIVE VITREORETINOPATHY 4 - AUTOSOMAL RECESSIVE LRP5 - ARG570GLN 752 752 ARG GLY EXUDATIVE VITREORETINOPATHY 4 - AUTOSOMAL RECESSIVE LRP5 - ARG752GLY 1367 1367 GLU LYS EXUDATIVE VITREORETINOPATHY 4 - AUTOSOMAL RECESSIVE LRP5 - GLU1367LYS 145 145 LEU PHE EXUDATIVE VITREORETINOPATHY 4 - AUTOSOMAL DOMINANT LRP5 - LEU145PHE 444 444 ARG CYS EXUDATIVE VITREORETINOPATHY 4 - DIGENIC LRP5 - ARG444CYS 610 610 GLY ARG EXUDATIVE VITREORETINOPATHY 4 - AUTOSOMAL RECESSIVE LRP5 - GLY610ARG 611 611 ARG CYS CORONARY ARTERY DISEASE - AUTOSOMAL DOMINANT 2 LRP6 - ARG611CYS 58 58 ARG GLY GERM CELL TUMOR BCL10 - ARG58GLY 285 285 GLY SER DEAFNESS - AUTOSOMAL DOMINANT 2A KCNQ4 - GLY285SER 276 276 TRP SER DEAFNESS - AUTOSOMAL DOMINANT 2A KCNQ4 - TRP276SER 321 321 GLY SER DEAFNESS - AUTOSOMAL DOMINANT 2A KCNQ4 - GLY321SER 285 285 GLY CYS DEAFNESS - AUTOSOMAL DOMINANT 2A KCNQ4 - GLY285CYS 281 281 LEU SER DEAFNESS - AUTOSOMAL DOMINANT 2A KCNQ4 - LEU281SER 274 274 LEU HIS DEAFNESS - AUTOSOMAL DOMINANT 2A KCNQ4 - LEU274HIS 296 296 GLY SER DEAFNESS - AUTOSOMAL DOMINANT 2A KCNQ4 - GLY296SER 99 99 LEU PRO NIGHT BLINDNESS - CONGENITAL STATIONARY - TYPE 1C TRPM1 - LEU99PRO 611 611 PRO HIS NIGHT BLINDNESS - CONGENITAL STATIONARY - TYPE 1C TRPM1 - PRO611HIS 509 509 GLU LYS MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION) - TYPE B - 6 LARGE - GLU509LYS 495 495 TRP ARG MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES) - TYPE A - 6 LARGE - TRP495ARG 331 331 SER PHE MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES) - TYPE A - 6 LARGE - SER331PHE 1 1 MET LEU LYSINURIC PROTEIN INTOLERANCE SLC7A7 - MET1LEU 334 334 LEU ARG LYSINURIC PROTEIN INTOLERANCE SLC7A7 - LEU334ARG 54 54 GLY VAL LYSINURIC PROTEIN INTOLERANCE SLC7A7 - GLY54VAL 545 545 LYS THR NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B PLA2G6 - LYS545THR 310 310 VAL GLU NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A PLA2G6 - VAL310GLU 632 632 ARG TRP KARAK SYNDROME PLA2G6 - ARG632TRP 80 80 ALA THR NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B PLA2G6 - ALA80THR 741 741 ARG GLN PARKINSON DISEASE 14 PLA2G6 - ARG741GLN 747 747 ARG TRP PARKINSON DISEASE 14 PLA2G6 - ARG747TRP 63 63 PRO HIS ADENOCARCINOMA - COLONIC - SOMATIC RAD54L - PRO63HIS 444 444 VAL GLU LYMPHOMA - NON-HODGKIN - SOMATIC RAD54L - VAL444GLU 325 325 GLY ARG BREAST CANCER - INVASIVE DUCTAL RAD54L - GLY325ARG 41 41 GLY ARG CHARCOT-MARIE-TOOTH DISEASE - DOMINANT INTERMEDIATE C YARS - GLY41ARG 196 196 GLU LYS CHARCOT-MARIE-TOOTH DISEASE - DOMINANT INTERMEDIATE C YARS - GLU196LYS 1 1 MET ILE DIAMOND-BLACKFAN ANEMIA 9 RPS10 - MET1ILE 140 140 GLY SER DIAMOND-BLACKFAN ANEMIA 6 RPL5 - GLY140SER 174 174 PRO LEU HEPATIC FAILURE - EARLY-ONSET - AND NEUROLOGIC DISORDER DUE TO CYTOCHROME c OXIDASE DEFICIENCY SCO1 - PRO174LEU 217 217 ARG TRP CARDIOMYOPATHY - HYPERTROPHIC - EARLY-ONSET FATAL LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY DEFICIENCY - INCLUDED COX15 - ARG217TRP 277 277 SER ASN MITOCHONDRIAL COMPLEX III DEFICIENCY BCS1L - SER277ASN 99 99 PRO LEU LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX III DEFICIENCY BCS1L - PRO99LEU 155 155 ARG PRO MITOCHONDRIAL COMPLEX III DEFICIENCY BCS1L - ARG155PRO 353 353 VAL MET MITOCHONDRIAL COMPLEX III DEFICIENCY BCS1L - VAL353MET 78 78 SER GLY GRACILE SYNDROME BCS1L - SER78GLY 45 45 ARG CYS MITOCHONDRIAL COMPLEX III DEFICIENCY BCS1L - ARG45CYS 183 183 ARG HIS BJORNSTAD SYNDROME BCS1L - ARG183HIS 184 184 ARG CYS BJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY MITOCHONDRIAL COMPLEX III DEFICIENCY - INCLUDED BCS1L - ARG184CYS 35 35 GLY ARG BJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY BCS1L - GLY35ARG 50 50 THR ALA MITOCHONDRIAL COMPLEX III DEFICIENCY BCS1L - THR50ALA 183 183 ARG CYS MITOCHONDRIAL COMPLEX III DEFICIENCY BCS1L - ARG183CYS 72 72 GLY SER BARDET-BIEDL SYNDROME 5 BBS5 - GLY72SER 183 183 THR ALA BARDET-BIEDL SYNDROME 5 BBS5 - THR183ALA 112 112 PRO GLN FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2 TRPC6 - PRO112GLN 143 143 ASN SER FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2 TRPC6 - ASN143SER 270 270 SER THR FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2 TRPC6 - SER270THR 895 895 ARG CYS FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2 TRPC6 - ARG895CYS 897 897 GLU LYS FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2 TRPC6 - GLU897LYS 590 590 GLN ARG HYPOMYELINATION - GLOBAL CEREBRAL SLC25A12 - GLN590ARG 719 719 ARG GLN BASAL CELL NEVUS SYNDROME PTCH2 - ARG719GLN 1825 1825 PRO ALA DEAFNESS - AUTOSOMAL RECESSIVE 9 OTOF - PRO1825ALA 50 50 PRO ARG AUDITORY NEUROPATHY - AUTOSOMAL RECESSIVE - 1 OTOF - PRO50ARG 1011 1011 LEU PRO AUDITORY NEUROPATHY - AUTOSOMAL RECESSIVE - 1 OTOF - LEU1011PRO 515 515 ILE THR AUDITORY NEUROPATHY - AUTOSOMAL RECESSIVE - 1 OTOF - ILE515THR 113 113 SER ARG SPASTIC PARAPLEGIA 42 - AUTOSOMAL DOMINANT SLC33A1 - SER113ARG 657 657 SER GLY TETRALOGY OF FALLOT ZFPM2 - SER657GLY 30 30 GLU GLY TETRALOGY OF FALLOT ZFPM2 - GLU30GLY 703 703 MET LEU DIAPHRAGMATIC HERNIA 3 ZFPM2 - MET703LEU 843 843 THR ALA DIAPHRAGMATIC HERNIA 3 ZFPM2 - THR843ALA 1 1 MET VAL DIAMOND-BLACKFAN ANEMIA 10 RPS26 - MET1VAL 1 1 MET LEU DIAMOND-BLACKFAN ANEMIA 10 RPS26 - MET1LEU 33 33 ASP ASN DIAMOND-BLACKFAN ANEMIA 10 RPS26 - ASP33ASN 319 319 ARG GLN MOLYBDENUM COFACTOR DEFICIENCY - COMPLEMENTATION GROUP A MOCS1 - ARG319GLN 73 73 ARG TRP MOLYBDENUM COFACTOR DEFICIENCY - COMPLEMENTATION GROUP A MOCS1 - ARG73TRP 168 168 GLU LYS MOLYBDENUM COFACTOR DEFICIENCY - COMPLEMENTATION GROUP B MOCS2 - GLU168LYS 1 1 MET ILE MOLYBDENUM COFACTOR DEFICIENCY - COMPLEMENTATION GROUP B MOCS2 - MET1ILE 7 7 VAL PHE MOLYBDENUM COFACTOR DEFICIENCY - COMPLEMENTATION GROUP B MCOS2 - VAL7PHE 168 168 GLU LYS MOLYBDENUM COFACTOR DEFICIENCY - COMPLEMENTATION GROUP B MOCS2 - GLU168LYS 1 1 MET ILE MOLYBDENUM COFACTOR DEFICIENCY - COMPLEMENTATION GROUP B MOCS2 - MET1ILE 7 7 VAL PHE MOLYBDENUM COFACTOR DEFICIENCY - COMPLEMENTATION GROUP B MCOS2 - VAL7PHE 363 363 SER PHE SPASTIC PARAPLEGIA 5A - AUTOSOMAL RECESSIVE CYP7B1 - SER363PHE 57 57 GLY ARG SPASTIC PARAPLEGIA 5A - AUTOSOMAL RECESSIVE CYP7B1 - GLY57ARG 417 417 ARG HIS SPASTIC PARAPLEGIA 5A - AUTOSOMAL RECESSIVE CYP7B1 - ARG417HIS 216 216 PHE SER SPASTIC PARAPLEGIA 5A - AUTOSOMAL RECESSIVE CYP7B1 - PHE216SER 470 470 PHE ILE SPASTIC PARAPLEGIA 5A - AUTOSOMAL RECESSIVE CYP7B1 - PHE470ILE 486 486 ARG CYS SPASTIC PARAPLEGIA 5A - AUTOSOMAL RECESSIVE CYP7B1 - ARG486CYS 226 226 LEU VAL HOLOPROSENCEPHALY 2 SIX3 - LEU226VAL 257 257 ARG PRO HOLOPROSENCEPHALY 2 SIX3 - ARG257PRO 250 250 VAL ALA HOLOPROSENCEPHALY 2 SIX3 - VAL250ALA 69 69 GLY ASP HOLOPROSENCEPHALY 2 SIX3 - GLY69ASP 113 113 TRP CYS HOLOPROSENCEPHALY 2 SIX3 - TRP113CYS 47 47 ARG LEU HYPOPARATHYROIDISM - FAMILIAL ISOLATED GCM2 - ARG47LEU 63 63 GLY SER HYPOPARATHYROIDISM - FAMILIAL ISOLATED GCM2 - GLY63SER 696 696 ARG PRO FAMILIAL DYSAUTONOMIA IKBKAP - ARG696PRO 914 914 PRO LEU FAMILIAL DYSAUTONOMIA IKBKAP - PRO914LEU 426 426 LEU PRO ICHTHYOSIFORM ERYTHRODERMA - CONGENITAL - NONBULLOUS - 1 ALOX12B - LEU426PRO 578 578 HIS GLN ICHTHYOSIFORM ERYTHRODERMA - CONGENITAL - NONBULLOUS - 1 ALOX12B - HIS578GLN 342 342 SER GLY FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4 - SUSCEPTIBILITY TO APOL1 - SER342GLY - ILE384MET (dbSNP rs73885319 - dbSNP rs60910145) 384 384 ILE MET FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4 - SUSCEPTIBILITY TO APOL1 - SER342GLY - ILE384MET (dbSNP rs73885319 - dbSNP rs60910145) 621 621 ARG CYS RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE SNCAIP - ARG621CYS 1021 1021 ARG TRP BALLER-GEROLD SYNDROME RECQL4 - ARG1021TRP 112 112 GLY SER CHARCOT-MARIE-TOOTH DISEASE - TYPE 1C LITAF - GLY112SER 115 115 THR ASN CHARCOT-MARIE-TOOTH DISEASE - TYPE 1C LITAF - THR115ASN 116 116 TRP GLY CHARCOT-MARIE-TOOTH DISEASE - TYPE 1C LITAF - TRP116GLY 122 122 LEU VAL CHARCOT-MARIE-TOOTH DISEASE - TYPE 1C LITAF - LEU122VAL 144 144 VAL MET CHARCOT-MARIE-TOOTH DISEASE - TYPE 1C LITAF - VAL144MET 9 9 GLN GLU LONG QT SYNDROME 6 - ACQUIRED - SUSCEPTIBILITY TO KCNE2 - GLN9GLU 54 54 MET THR LONG QT SYNDROME 6 KCNE2 - MET54THR 57 57 ILE THR LONG QT SYNDROME 6 KCNE2 - ILE57THR 27 27 ARG CYS ATRIAL FIBRILLATION - FAMILIAL - 4 KCNE2 - ARG27CYS 60 60 PHE LEU LONG QT SYNDROME 3/6 - DIGENIC KCNE2 - PHE60LEU 304 304 ARG GLN SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS CHST3 - ARG304GLN 259 259 LEU PRO SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS CHST3 - LEU259PRO 222 222 ARG TRP SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS CHST3 - ARG222TRP 307 307 LEU PRO SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS CHST3 - LEU307PRO 286 286 LEU PRO SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS CHST3 - LEU286PRO 372 372 GLU LYS SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS CHST3 - GLU372LYS 141 141 THR MET SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS CHST3 - THR141MET 159 159 PHE ILE SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS CHST3 - PHE159ILE 161 161 LEU PHE SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS CHST3 - LEU161PHE 113 113 GLY CYS PEELING SKIN SYNDROME - ACRAL TYPE TGM5 - GLY113CYS 371 371 LEU PRO MICROCEPHALY - POSTNATAL PROGRESSIVE - WITH SEIZURES AND BRAIN ATROPHY MED17 - LEU371PRO 266 266 ARG TRP SIALURIA GNE - ARG266TRP 266 266 ARG GLN SIALURIA GNE - ARG266GLN 263 263 ARG LEU SIALURIA GNE - ARG263LEU 266 266 ARG GLN SIALURIA GNE - ARG266GLN 712 712 MET THR INCLUSION BODY MYOPATHY - AUTOSOMAL RECESSIVE NONAKA MYOPATHY - INCLUDED GNE - MET712THR 576 576 GLY GLU INCLUSION BODY MYOPATHY - AUTOSOMAL RECESSIVE GNE - GLY576GLU 631 631 ALA THR INCLUSION BODY MYOPATHY - AUTOSOMAL RECESSIVE GNE - ALA631THR 696 696 VAL MET INCLUSION BODY MYOPATHY - AUTOSOMAL RECESSIVE GNE - VAL696MET 246 246 ARG GLN INCLUSION BODY MYOPATHY - AUTOSOMAL RECESSIVE GNE - ARG246GLN 225 225 ASP ASN INCLUSION BODY MYOPATHY - AUTOSOMAL RECESSIVE GNE - ASP225ASN 460 460 ALA VAL NONAKA MYOPATHY GNE - ALA460VAL 572 572 VAL LEU NONAKA MYOPATHY GNE - VAL572LEU 303 303 CYS VAL NONAKA MYOPATHY GNE - CYS303VAL 631 631 ALA VAL NONAKA MYOPATHY GNE - ALA631VAL 171 171 MET VAL INCLUSION BODY MYOPATHY - AUTOSOMAL RECESSIVE GNE - MET171VAL 145 145 THR ILE LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY NDUFS3 - THR145ILE 199 199 ARG TRP LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY NDUFS3 - ARG199TRP 115 115 CYS TYR MITOCHONDRIAL COMPLEX I DEFICIENCY NDUFS6 - CYS115TYR 395 395 ALA ASP ENCEPHALOPATHY - LETHAL - DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION DNM1L - ALA395ASP 100 100 ARG LEU NEUROBLASTOMA - SUSCEPTIBILITY TO - 2 PHOX2B - ARG100LEU 141 141 ARG GLY NEUROBLASTOMA WITH HIRSCHSPRUNG DISEASE PHOX2B - ARG141GLY 197 197 GLY ASP NEUROBLASTOMA - SUSCEPTIBILITY TO - 2 PHOX2B - GLY197ASP 588 588 ARG GLN CITRULLINEMIA - TYPE II - ADULT-ONSET SLC25A13 - ARG588GLN 180 180 GLU LYS HHH SYNDROME SLC25A15 - GLU180LYS 27 27 GLY ARG HHH SYNDROME SLC25A15 - GLY27ARG 275 275 ARG GLN HHH SYNDROME SLC25A15 - ARG275GLN 37 37 MET ARG HHH SYNDROME SLC25A15 - MET37ARG 71 71 LEU GLN HHH SYNDROME SLC25A15 - LEU71GLN 272 272 THR ILE HHH SYNDROME SLC25A15 - THR272ILE 32 32 THR ARG HHH SYNDROME SLC25A15 - THR32ARG 73 73 TRP GLY GRISCELLI SYNDROME - TYPE 2 RAB27A - TRP73GLY 130 130 LEU PRO GRISCELLI SYNDROME - TYPE 2 RAB27A - LEU130PRO 152 152 ALA PRO GRISCELLI SYNDROME - TYPE 2 RAB27A - ALA152PRO 87 87 ALA PRO GRISCELLI SYNDROME - TYPE 2 RAB27A - ALA87PRO 209 209 PRO LEU MYOPATHY - MYOFIBRILLAR - BAG3-RELATED BAG3 - PRO209LEU 118 118 GLY ARG MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) SUCLA2 - GLY118ARG 284 284 ARG CYS MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) SUCLA2 - ARG284CYS 534 534 GLY GLU FACTOR VII-ACTIVATING PROTEASE MARBURG I CAROTID STENOSIS - SUSCEPTIBILITY TO - INCLUDED;; VENOUS THROMBOEMBOLISM - SUSCEPTIBILITY TO - INCLUDED HABP2 - GLY534GLU 10 10 ASN TYR HYPEREKPLEXIA GPHN - ASN10TYR 985 985 ASN TYR HYPERTRIGLYCERIDEMIA - SUSCEPTIBILITY TO RP1 - ASN985TYR 373 373 THR ILE RETINITIS PIGMENTOSA 1 RP1 - THR373ILE 172 172 GLY ASP THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME SLC19A2 - GLY172ASP 152 152 CYS THR THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME SLC19A2 - CYS152THR 83 83 THR MET GLYCOGEN STORAGE DISEASE GYG1 - THR83MET 91 91 THR ALA LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER EIF2B5 - THR91ALA 628 628 TRP ARG LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER EIF2B5 - TRP628ARG 386 386 GLY VAL LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER EIF2B5 - GLY386VAL 113 113 ARG HIS LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER OVARIOLEUKODYSTROPHY - INCLUDED EIF2B5 - ARG113HIS 195 195 ARG HIS LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER EIF2B5 - ARG195HIS 309 309 LEU VAL LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER EIF2B5 - LEU309VAL 195 195 ARG CYS OVARIOLEUKODYSTROPHY EIF2B5 - ARG195CYS 182 182 THR MET LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER EIF2B5 - THR182MET 315 315 ARG HIS LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER EIF2B5 - ARG315HIS 56 56 PHE VAL LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER EIF2B5 - PHE56VAL 56 56 PHE CYS LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER EIF2B5 - PHE56CYS 65 65 GLU LYS HYPERTENSION - DIASTOLIC - RESISTANCE TO KCNMB1 - GLU65LYS 239 239 GLY ARG HYPOMAGNESEMIA - PRIMARY CLDN16 - GLY239ARG 191 191 GLY ARG HYPOMAGNESEMIA - PRIMARY CLDN16 - GLY191ARG 198 198 GLY ASP HYPOMAGNESEMIA - PRIMARY CLDN16 - GLY198ASP 71 71 MET ARG HYPOMAGNESEMIA - PRIMARY CLDN16 - MET71ARG 167 167 LEU PRO HYPOMAGNESEMIA - PRIMARY CLDN16 - LEU167PRO 232 232 PHE CYS HYPOMAGNESEMIA - PRIMARY CLDN16 - PHE232CYS 233 233 GLY ASP HYPOMAGNESEMIA - PRIMARY CLDN16 - GLY233ASP 235 235 SER PHE HYPOMAGNESEMIA - PRIMARY CLDN16 - SER235PHE 151 151 LEU PHE HYPOMAGNESEMIA - PRIMARY CLDN16 - LEU151PHE 151 151 LEU TRP HYPOMAGNESEMIA - PRIMARY CLDN16 - LEU151TRP 145 145 LEU PRO HYPOMAGNESEMIA - PRIMARY CLDN16 - LEU145PRO 151 151 LEU PRO HYPOMAGNESEMIA - PRIMARY CLDN16 - LEU151PRO 233 233 THR ARG HYPERCALCIURIA - CHILDHOOD - SELF-LIMITING CLDN16 - THR233ARG 704 704 THR MET HYPERKALEMIC PERIODIC PARALYSIS PARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS - INCLUDED SCN4A - THR704MET 1592 1592 MET VAL HYPERKALEMIC PERIODIC PARALYSIS PARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS - INCLUDED SCN4A - MET1592VAL 1448 1448 ARG CYS PARAMYOTONIA CONGENITA SCN4A - ARG1448CYS 1448 1448 ARG HIS PARAMYOTONIA CONGENITA SCN4A - ARG1448HIS 1156 1156 ALA THR PARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS SCN4A - ALA1156THR 804 804 SER PHE PARAMYOTONIA CONGENITA/MYOTONIA CONGENITA MYOTONIA FLUCTUANS - INCLUDED SCN4A - SER804PHE 1306 1306 GLY VAL PARAMYOTONIA CONGENITA MYOTONIA - POTASSIUM-AGGRAVATED - INCLUDED SCN4A - GLY1306VAL 1313 1313 THR MET PARAMYOTONIA CONGENITA SCN4A - THR1313MET 1589 1589 VAL MET MYOTONIA - POTASSIUM-AGGRAVATED PARAMYOTONIA CONGENITA - INCLUDED SCN4A - VAL1589MET 1160 1160 ILE VAL MYOTONIA CONGENITA - ATYPICAL - ACETAZOLAMIDE-RESPONSIVE SCN4A - ILE1160VAL 1433 1433 LEU ARG PARAMYOTONIA CONGENITA SCN4A - LEU1433ARG 1306 1306 GLY ALA MYOTONIA FLUCTUANS SCN4A - GLY1306ALA 1293 1293 VAL ILE PARAMYOTONIA CONGENITA SCN4A - VAL1293ILE 445 445 VAL MET MYOTONIA CONGENITA - ATYPICAL SCN4A - VAL445MET 669 669 ARG HIS HYPOKALEMIC PERIODIC PARALYSIS - TYPE 2 SCN4A - ARG669HIS 672 672 ARG HIS HYPOKALEMIC PERIODIC PARALYSIS - TYPE 2 SCN4A - ARG672HIS 672 672 ARG GLY HYPOKALEMIC PERIODIC PARALYSIS - TYPE 2 SCN4A - ARG672GLY 1442 1442 VAL GLU MYASTHENIC SYNDROME SCN4A - VAL1442GLU 672 672 ARG SER HYPOKALEMIC PERIODIC PARALYSIS - TYPE 2 SCN4A - ARG672SER 1158 1158 PRO SER HYPOKALEMIC PERIODIC PARALYSIS - TYPE 2 SCN4A - PRO1158SER 675 675 ARG GLY NORMOKALEMIC PERIODIC PARALYSIS - POTASSIUM-SENSITIVE SCN4A - ARG675GLY 675 675 ARG GLN NORMOKALEMIC PERIODIC PARALYSIS - POTASSIUM-SENSITIVE SCN4A - ARG675GLN 675 675 ARG TRP NORMOKALEMIC PERIODIC PARALYSIS - POTASSIUM-SENSITIVE SCN4A - ARG675TRP 1306 1306 GLY GLU MYOTONIA PERMANENS SCN4A - GLY1306GLU 1476 1476 MET ILE PARAMYOTONIA CONGENITA SCN4A - MET1476ILE 1297 1297 ASN LYS PARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS SCN4A - ASN1297LYS 693 693 ILE THR PARAMYOTONIA CONGENITA SCN4A - ILE693THR 141 141 ILE VAL PARAMYOTONIA CONGENITA SCN4A - ILE141VAL 535 535 LYS GLU XERODERMA PIGMENTOSUM - VARIANT TYPE POLH - LYS535GLU 589 589 LYS THR XERODERMA PIGMENTOSUM - VARIANT TYPE POLH - LYS589THR 1570 1570 SER LEU LONG QT SYNDROME 11 KCNQ1 - SER1570LEU 587 588 ARG GLN WOLCOTT-RALLISON SYNDROME EIF2AK3 - ARG587GLN 73 73 GLY GLU CONGENITAL DISORDER OF GLYCOSYLATION - TYPE If MPDU1 - GLY73GLU 119 119 LEU PRO CONGENITAL DISORDER OF GLYCOSYLATION - TYPE If MPDU1 - LEU119PRO 1 1 MET THR CONGENITAL DISORDER OF GLYCOSYLATION - TYPE If MPDU1 - MET1THR 74 74 LEU SER CONGENITAL DISORDER OF GLYCOSYLATION - TYPE If MPDU1 - LEU74SER 88 91 ARG TRP AMYOTROPHY - HEREDITARY NEURALGIC SEPT9 - ARG88TRP 93 96 SER PHE AMYOTROPHY - HEREDITARY NEURALGIC SEPT9 - SER93PHE 299 299 TRP ARG BRADYOPSIA RGS9 - TRP299ARG 89 89 ARG HIS ECTODERMAL DYSPLASIA - HYPOHIDROTIC - AUTOSOMAL RECESSIVE ECTODERMAL DYSPLASIA - HYPOHIDROTIC - AUTOSOMAL DOMINANT - INCLUDED EDAR - ARG89HIS 87 87 CYS ARG ECTODERMAL DYSPLASIA - HYPOHIDROTIC - AUTOSOMAL RECESSIVE EDAR - CYS87ARG 420 420 ARG GLN ECTODERMAL DYSPLASIA - HYPOHIDROTIC - AUTOSOMAL DOMINANT EDAR - ARG420GLN 375 375 ARG HIS ECTODERMAL DYSPLASIA - HYPOHIDROTIC - AUTOSOMAL RECESSIVE EDAR - ARG375HIS 110 110 ASP ALA ECTODERMAL DYSPLASIA - HYPOHIDROTIC - AUTOSOMAL RECESSIVE EDAR - ASP110ALA 370 370 VAL ALA HAIR MORPHOLOGY 1 - HAIR THICKNESS EDAR - VAL370ALA 781 781 GLU LYS NIGHT BLINDNESS - CONGENITAL STATIONARY - TYPE 1B GRM6 - GLU781LYS 150 150 GLY SER NIGHT BLINDNESS - CONGENITAL STATIONARY - TYPE 1B GRM6 - GLY150SER 46 46 PRO LEU NIGHT BLINDNESS - CONGENITAL STATIONARY - TYPE 1B GRM6 - PRO46LEU 522 522 CYS TYR NIGHT BLINDNESS - CONGENITAL STATIONARY - TYPE 1B GRM6 - CYS522TYR 405 405 ILE THR NIGHT BLINDNESS - CONGENITAL STATIONARY - TYPE 1B GRM6 - ILE405THR 57 57 THR ILE MUSCULAR DYSTROPHY - LIMB-GIRDLE - TYPE 1A TTID - THR57ILE 55 55 SER PHE MUSCULAR DYSTROPHY - LIMB-GIRDLE - TYPE 1A MYOTILINOPATHY - INCLUDED TTID - SER55PHE 60 60 SER CYS MYOTILINOPATHY TTID - SER60CYS 60 60 SER PHE MYOTILINOPATHY TTID - SER60PHE 95 95 SER ILE MYOTILINOPATHY TTID - SER95ILE 39 39 SER PHE MYOPATHY - SPHEROID BODY TTID - SER39PHE 38 38 ARG TRP POLYMICROGYRIA - BILATERAL FRONTOPARIETAL GPR56 - ARG38TRP 346 346 CYS SER POLYMICROGYRIA - BILATERAL FRONTOPARIETAL GPR56 - CYS346SER 565 565 ARG TRP POLYMICROGYRIA - BILATERAL FRONTOPARIETAL GPR56 - ARG565TRP 91 91 CYS SER POLYMICROGYRIA - BILATERAL FRONTOPARIETAL GPR56 - CYS91SER 88 88 TYR CYS POLYMICROGYRIA - BILATERAL FRONTOPARIETAL GPR56 - TYR88CYS 337 337 LYS GLU PANCREATIC CARCINOMA - SOMATIC RBPP8 - LYS337GLU 96 96 HIS ASP THROMBOTIC THROMBOCYTOPENIC PURPURA - CONGENITAL ADAMTS13 - HIS96ASP 951 951 CYS GLY THROMBOTIC THROMBOCYTOPENIC PURPURA - CONGENITAL ADAMTS13 - CYS951GLY 102 102 ARG CYS THROMBOTIC THROMBOCYTOPENIC PURPURA - CONGENITAL ADAMTS13 - ARG102CYS 196 196 THR ILE THROMBOTIC THROMBOCYTOPENIC PURPURA - CONGENITAL ADAMTS13 - THR196ILE 398 398 ARG HIS THROMBOTIC THROMBOCYTOPENIC PURPURA - CONGENITAL ADAMTS13 - ARG398HIS 1024 1024 CYS GLY THROMBOTIC THROMBOCYTOPENIC PURPURA - CONGENITAL ADAMTS13 - CYS1024GLY 528 528 ARG GLY THROMBOTIC THROMBOCYTOPENIC PURPURA - CONGENITAL ADAMTS13 - ARG528GLY 1213 1213 CYS TYR THROMBOTIC THROMBOCYTOPENIC PURPURA - CONGENITAL ADAMTS13 - CYS1213TYR 692 692 ARG CYS THROMBOTIC THROMBOCYTOPENIC PURPURA - CONGENITAL ADAMTS13 - ARG692CYS 268 268 ARG PRO THROMBOTIC THROMBOCYTOPENIC PURPURA - CONGENITAL ADAMTS13 - ARG268PRO 448 448 GLN GLU THROMBOTIC THROMBOCYTOPENIC PURPURA - CONGENITAL ADAMTS13 - GLN448GLU AND CYS508TYR 508 508 CYS TYR THROMBOTIC THROMBOCYTOPENIC PURPURA - CONGENITAL ADAMTS13 - GLN448GLU AND CYS508TYR 475 475 PRO SER THROMBOTIC THROMBOCYTOPENIC PURPURA - CONGENITAL ADAMTS13 - PRO475SER 250 250 ALA VAL THROMBOTIC THROMBOCYTOPENIC PURPURA - CONGENITAL ADAMTS13 - ALA250VAL 1 1 MET THR POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY TYROBP - MET1THR 170 170 VAL MET CYSTINURIA SLC7A9 - VAL170MET 105 105 GLY ARG CYSTINURIA SLC7A9 - GLY105ARG 182 182 ALA THR CYSTINURIA SLC7A9 - ALA182THR 195 195 GLY ARG CYSTINURIA SLC7A9 - GLY195ARG 259 259 GLY ARG CYSTINURIA SLC7A9 - GLY259ARG 333 333 ARG TRP CYSTINURIA SLC7A9 - ARG333TRP 44 44 ILE THR CYSTINURIA SLC7A9 - ILE44THR 261 261 PRO LEU CYSTINURIA SLC7A9 - PRO261LEU 232 232 TYR CYS CYSTINURIA SLC7A9 - TYR232CYS 123 123 THR MET CYSTINURIA SLC7A9 - THR123MET 196 196 LEU ARG MYOCLONUS-DYSTONIA SYNDROME SGCE - LEU196ARG 432 432 VAL PHE HYPEREKPLEXIA SLC6A5 - VAL432PHE - 1-BP INS - 1295T 491 491 TYR CYS HYPEREKPLEXIA SLC6A5 - TYR491CYS 306 306 LEU VAL HYPEREKPLEXIA SLC6A5 - LEU306VAL 509 509 ASN SER HYPEREKPLEXIA SLC6A5 - ASN509SER 425 425 THR MET HYPEREKPLEXIA SLC6A5 - THR425MET 148 148 LEU SER HYPOGONADOTROPIC HYPOGONADISM KISS1R - LEU148SER 102 102 LEU PRO HYPOGONADOTROPIC HYPOGONADISM KISS1R - LEU102PRO 386 386 ARG PRO PRECOCIOUS PUBERTY - CENTRAL KISS1R - ARG386PRO 503 503 LEU PHE SLC22A4 POLYMORPHISM SLC22A4 - LEU503PHE 92 92 ALA THR ICHTHYOSIS PREMATURITY SYNDROME SLC27A4 - ALA92THR 247 247 SER PRO ICHTHYOSIS PREMATURITY SYNDROME SLC27A4 - SER247PRO 300 300 GLN ARG ICHTHYOSIS PREMATURITY SYNDROME SLC27A4 - GLN300ARG 583 583 ARG HIS ICHTHYOSIS PREMATURITY SYNDROME SLC27A4 - ARG583HIS 1041 1041 MET THR RETINITIS PIGMENTOSA 12 CRB1 - MET1041THR 764 764 ARG CYS RETINITIS PIGMENTOSA 12 CRB1 - ARG764CYS 745 745 THR MET RETINITIS PIGMENTOSA 12 CRB1 - THR745MET 1100 1100 ILE ARG LEBER CONGENITAL AMAUROSIS 8 CRB1 - ILE1100ARG 1181 1181 CYS ARG RETINITIS PIGMENTOSA 12 CRB1 - CYS1181ARG 162 162 VAL MET PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY CRB1 - VAL162MET 1103 1103 GLY ARG LEBER CONGENITAL AMAUROSIS 8 RETINITIS PIGMENTOSA 12 - INCLUDED CRB1 - GLY1103ARG 137 137 ASP GLY CEREBRAL CAVERNOUS MALFORMATIONS 1 KRIT1 - ASP137GLY 201 201 GLN GLU CEREBRAL CAVERNOUS MALFORMATIONS 1 KRIT1 - GLN201GLU 106 106 GLY ARG PULMONARY ALVEOLAR MICROLITHIASIS SLC34A2 - GLY106ARG 374 374 LEU ARG COLD-INDUCED SWEATING SYNDROME 1 CRLF1 - ARG81HIS AND LEU374ARG 81 81 ARG HIS COLD-INDUCED SWEATING SYNDROME 1 CRLF1 - ARG81HIS AND LEU374ARG 76 76 TRP GLY CRISPONI SYNDROME CRLF1 - TRP76GLY 102 102 ARG LYS ESOPHAGEAL SQUAMOUS CELL CARCINOMA - SOMATIC RNF6 - ARG102LYS 242 242 ALA THR ESOPHAGEAL SQUAMOUS CELL CARCINOMA - SOMATIC RNF6 - ALA242THR 244 244 GLY ASP ESOPHAGEAL SQUAMOUS CELL CARCINOMA - SOMATIC RNF6 - GLY244ASP 522 522 THR ALA COLORECTAL CANCER - SOMATIC DLC1 - THR522ALA 630 630 ALA PRO GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY STAT5B - ALA630PRO 529 529 ASP ASN CENANI-LENZ SYNDACTYLY SYNDROME LRP4 - ASP529ASN 137 137 ASP ASN CENANI-LENZ SYNDACTYLY SYNDROME LRP4 - ASP137ASN 160 160 CYS TYR CENANI-LENZ SYNDACTYLY SYNDROME LRP4 - CYS160TYR 449 449 ASP ASN CENANI-LENZ SYNDACTYLY SYNDROME LRP4 - ASP449ASN 461 461 THR PRO CENANI-LENZ SYNDACTYLY SYNDROME LRP4 - THR461PRO 140 140 GLU LYS CARDIOENCEPHALOMYOPATHY - FATAL INFANTILE - DUE TO CYTOCHROME c OXIDASE DEFICIENCY SCO2 - GLU140LYS 225 225 SER PHE CARDIOENCEPHALOMYOPATHY - FATAL INFANTILE - DUE TO CYTOCHROME c OXIDASE DEFICIENCY SCO2 - SER225PHE 171 171 ARG TRP CARDIOENCEPHALOMYOPATHY - FATAL INFANTILE - DUE TO CYTOCHROME c OXIDASE DEFICIENCY SCO2 - ARG171TRP 133 133 CYS TYR CARDIOENCEPHALOMYOPATHY - FATAL INFANTILE - DUE TO CYTOCHROME c OXIDASE DEFICIENCY SCO2 - CYS133TYR 362 362 SER CYS SPASTIC PARAPLEGIA 4 SPG4 - SER362CYS 448 448 CYS TYR SPASTIC PARAPLEGIA 4 SPG4 - CYS448TYR 499 499 ARG CYS SPASTIC PARAPLEGIA 4 SPG4 - ARG499CYS 441 441 ASP GLY SPASTIC PARAPLEGIA 4 SPG4 - ASP441GLY 344 344 ILE LYS SPASTIC PARAPLEGIA 4 SPG4 - ILE344LYS 386 386 ASN SER SPASTIC PARAPLEGIA 4 SPG4 - ASN386SER 44 44 SER LEU SPASTIC PARAPLEGIA 4 - MODIFIER OF SPG4 - SER44LEU 470 470 ASP VAL SPASTIC PARAPLEGIA 4 SPG4 - ASP470VAL 45 45 PRO GLN SPASTIC PARAPLEGIA 4 - MODIFIER OF SPG4 - PRO45GLN 562 562 ARG GLY SPASTIC PARAPLEGIA 4 SPG4 - ARG562GLY 445 445 SER ARG SPASTIC PARAPLEGIA 4 SPG4 - SER445ARG 205 205 SER PRO HYPEROXALURIA - PRIMARY - TYPE I AGXT - SER205PRO 11 11 PRO LEU HYPEROXALURIA - PRIMARY - TYPE I AGXT - PRO11LEU AND GLY170ARG 170 170 GLY ARG HYPEROXALURIA - PRIMARY - TYPE I AGXT - PRO11LEU AND GLY170ARG 82 82 GLY GLN HYPEROXALURIA - PRIMARY - TYPE I AGXT - GLY82GLN 41 41 GLY ARG HYPEROXALURIA - PRIMARY - TYPE I AGXT - GLY41ARG 152 152 PHE ILE HYPEROXALURIA - PRIMARY - TYPE I AGXT - PHE152ILE 244 244 ILE THR HYPEROXALURIA - PRIMARY - TYPE I AGXT - ILE244THR 233 233 ARG CYS HYPEROXALURIA - PRIMARY - TYPE I AGXT - ARG233CYS 233 233 ARG HIS HYPEROXALURIA - PRIMARY - TYPE I AGXT - ARG233HIS 158 158 GLY ARG HYPEROXALURIA - PRIMARY - TYPE I AGXT - GLY158ARG 593 593 ASN SER LYMPHOMA - NON-HODGKIN RAD54B - ASN593SER 418 418 ASP TYR COLON CANCER RAD54B - ASP418TYR 68 106 LEU GLN AMYLOIDOSIS - CEREBROARTERIAL - ICELANDIC TYPE CST3 - LEU68GLN 25 63 ALA THR MACULAR DEGENERATION - AGE-RELATED - 11 CST3 - ALA25THR 32 32 VAL MET GALACTOKINASE DEFICIENCY GALK1 - VAL32MET 28 28 PRO THR GALACTOKINASE DEFICIENCY GALK1 - PRO28THR 198 198 ALA VAL GALACTOKINASE DEFICIENCY GALK1 - ALA198VAL 280 280 LYS GLU DYSKERATOSIS CONGENITA - AUTOSOMAL DOMINANT TINF2 - LYS280GLU 282 282 ARG HIS DYSKERATOSIS CONGENITA - AUTOSOMAL DOMINANT REVESZ SYNDROME - INCLUDED TINF2 - ARG282HIS 282 282 ARG SER DYSKERATOSIS CONGENITA - AUTOSOMAL DOMINANT TINF2 - ARG282SER 282 282 ARG CYS DYSKERATOSIS CONGENITA - AUTOSOMAL DOMINANT TINF2 - ARG282CYS 39 39 ARG CYS SALLA DISEASE SLC17A5 - ARG39CYS 183 183 HIS ARG INFANTILE SIALIC ACID STORAGE DISORDER SLC17A5 - HIS183ARG 334 334 PRO ARG INFANTILE SIALIC ACID STORAGE DISORDER SLC17A5 - PRO334ARG 136 136 LYS GLU SALLA DISEASE SLC17A5 - LYS136GLU 186 186 ALA ASP EHLERS-DANLOS SYNDROME - PROGEROID FORM B4GALT7 - ALA186ASP 206 206 LEU PRO EHLERS-DANLOS SYNDROME - PROGEROID FORM B4GALT7 - LEU206PRO 270 270 ARG CYS EHLERS-DANLOS SYNDROME - PROGEROID FORM B4GALT7 - ARG270CYS 373 373 ARG CYS STARGARDT DISEASE 4 MACULAR DYSTROPHY - RETINAL - 2 - INCLUDED;; CONE-ROD DYSTROPHY 12 - INCLUDED PROM1 - ARG373CYS 515 515 GLY SER CILIARY DYSKINESIA - PRIMARY - 1 DNAI1 - GLY515SER 157 157 ILE THR LI-FRAUMENI SYNDROME 2 COLORECTAL CANCER - SUSCEPTIBILITY TO - INCLUDED;; CANCER OF MULTIPLE TYPES - SUSCEPTIBILITY TO - INCLUDED;; PROSTATE CANCER - SUSCEPTIBILITY TO - INCLUDED CHEK2 - ILE157THR 145 145 ARG TRP LI-FRAUMENI SYNDROME 2 CHEK2 - ARG145TRP 85 85 PRO LEU OSTEOSARCOMA - SOMATIC CHEK2 - PRO85LEU 17 17 ALA SER OSTEOSARCOMA - SOMATIC CHEK2 - ALA17SER 180 180 ARG HIS PROSTATE CANCER - SOMATIC CHEK2 - ARG180HIS 181 181 ARG CYS PROSTATE CANCER - SOMATIC CHEK2 - ARG181CYS 181 181 ARG HIS PROSTATE CANCER - SOMATIC CHEK2 - ARG181HIS 239 239 GLU LYS PROSTATE CANCER - SOMATIC CHEK2 - GLU239LYS 428 428 SER PHE BREAST CANCER - SUSCEPTIBILITY TO CHEK2 - SER428PHE 304 304 ALA THR HAILEY-HAILEY DISEASE ATP2C1 - ALA304THR 490 490 CYS PHE HAILEY-HAILEY DISEASE ATP2C1 - CYS490PHE 584 584 LEU PRO HAILEY-HAILEY DISEASE ATP2C1 - LEU584PRO 914 914 THR PRO TRICHORHINOPHALANGEAL SYNDROME - TYPE III TRPS1 - THR914PRO 921 921 ARG GLN TRICHORHINOPHALANGEAL SYNDROME - TYPE III TRPS1 - ARG921GLN 932 932 ALA VAL TRICHORHINOPHALANGEAL SYNDROME - TYPE III TRPS1 - ALA932VAL 965 965 ARG CYS TRICHORHINOPHALANGEAL SYNDROME - TYPE I TRPS1 - ARG965CYS 952 952 ARG HIS TRICHORHINOPHALANGEAL SYNDROME - TYPE I TRPS1 - ARG952HIS 239 239 CYS ARG LEBER CONGENITAL AMAUROSIS 4 AIPL1 - CYS239ARG 24 24 GLN GLU RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE MLH3 - GLN24GLU 499 499 ASN SER RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE MLH3 - ASN499SER 624 624 GLU GLN RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE MLH3 - GLU624GLN 1451 1451 GLU LYS RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE MLH3 - GLU1451LYS 741 741 VAL PHE ENDOMETRIAL CANCER COLORECTAL CANCER - HEREDITARY NONPOLYPOSIS - TYPE 7 MLH3 - VAL741PHE 1276 1276 TRP ARG COLORECTAL CANCER - HEREDITARY NONPOLYPOSIS - TYPE 7 MLH3 - TRP1276ARG 5 5 THR MET DEAFNESS - AUTOSOMAL DOMINANT 3B GJB6 - THR5MET 11 11 GLY ARG ECTODERMAL DYSPLASIA - HIDROTIC GJB6 - GLY11ARG 88 88 ALA VAL ECTODERMAL DYSPLASIA - HIDROTIC GJB6 - ALA88VAL 37 37 VAL GLU ECTODERMAL DYSPLASIA - HIDROTIC GJB6 - VAL37GLU 83 83 ARG HIS RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE KCNE3 - ARG83HIS 99 99 ARG HIS BRUGADA SYNDROME 6 KCNE3 - ARG99HIS 425 425 LEU SER MYCOBACTERIUM TUBERCULOSIS - SUSCEPTIBILITY TO SP110 - LEU425SER 76 76 ARG TRP ENHANCED S-CONE SYNDROME NR2E3 - ARG76TRP 76 76 ARG GLN ENHANCED S-CONE SYNDROME NR2E3 - ARG76GLN 311 311 ARG GLN ENHANCED S-CONE SYNDROME GOLDMANN-FAVRE SYNDROME - INCLUDED NR2E3 - ARG311GLN 56 56 GLY ARG RETINITIS PIGMENTOSA 37 NR2E3 - GLY56ARG 87 87 ARG GLN CARDIOMYOPATHY - DILATED - 1N TCAP - ARG87GLN 52 52 SER PRO ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY BILE ACID SYNTHESIS DEFECT - CONGENITAL - 4 - INCLUDED AMACR - SER52PRO 107 107 LEU PRO BILE ACID SYNTHESIS DEFECT - CONGENITAL - 4 AMACR - LEU107PRO 3324 4074 ALA PRO SPASTIC ATAXIA - CHARLEVOIX-SAGUENAY TYPE SACS - ALA3324PRO 1196 1946 TRP ARG SPASTIC ATAXIA - CHARLEVOIX-SAGUENAY TYPE SACS - TRP1196ARG 2498 3248 TRP ARG SPASTIC ATAXIA - CHARLEVOIX-SAGUENAY TYPE SACS - TRP2498ARG 304 1054 PHE SER SPASTIC ATAXIA - CHARLEVOIX-SAGUENAY TYPE SACS - PHE304SER 701 701 ASN SER ACHONDROGENESIS - TYPE IA TRIP11 - ASN701SER 98 97 LEU PRO RETINITIS PIGMENTOSA 46 IDH3B - LEU98PRO 333 333 ALA VAL CONGENITAL DISORDER OF GLYCOSYLATION - TYPE Ic ALG6 - ALA333VAL 478 478 SER PRO CONGENITAL DISORDER OF GLYCOSYLATION - TYPE Ic ALG6 - SER478PRO 869 869 ILE THR AUTISM - SUSCEPTIBILITY TO - 15 CNTNAP2 - ILE869THR 417 417 ARG GLN EXUDATIVE VITREORETINOPATHY 1 EXUDATIVE VITREORETINOPATHY - DIGENIC - INCLUDED FZD4 - ARG417GLN 342 342 MET VAL EXUDATIVE VITREORETINOPATHY 1 FZD4 - MET342VAL 335 335 TRP CYS EXUDATIVE VITREORETINOPATHY 1 FZD4 - TRP335CYS 256 256 ILE VAL RETINOPATHY OF PREMATURITY FZD4 - ILE256VAL 227 227 SER PRO CUTIS LAXA - AUTOSOMAL RECESSIVE - TYPE I FBLN5 - SER227PRO 60 60 VAL LEU MACULAR DEGENERATION - AGE-RELATED - 3 FBLN5 - VAL60LEU 71 71 ARG GLN MACULAR DEGENERATION - AGE-RELATED - 3 FBLN5 - ARG71GLN 87 87 PRO SER MACULAR DEGENERATION - AGE-RELATED - 3 FBLN5 - PRO87SER 169 169 ILE THR MACULAR DEGENERATION - AGE-RELATED - 3 FBLN5 - ILE169THR 351 351 ARG TRP MACULAR DEGENERATION - AGE-RELATED - 3 FBLN5 - ARG351TRP 363 363 ALA THR MACULAR DEGENERATION - AGE-RELATED - 3 FBLN5 - ALA363THR 412 412 GLY GLU MACULAR DEGENERATION - AGE-RELATED - 3 FBLN5 - GLY412GLU 691 691 GLU LYS SPINOCEREBELLAR ATAXIA 28 AFG3L2 - GLU691LYS 694 694 ALA GLU SPINOCEREBELLAR ATAXIA 28 AFG3L2 - ALA694GLU 702 702 ARG GLN SPINOCEREBELLAR ATAXIA 28 AFG3L2 - ARG702GLN 432 432 ASN THR SPINOCEREBELLAR ATAXIA 28 AFG3L2 - ASN432THR 23 23 HIS TYR COLORECTAL CANCER - SOMATIC PDGRL - HIS23TYR 232 232 ILE THR SYSTEMIC LUPUS ERYTHEMATOSUS - SUSCEPTIBILITY TO MALARIA - RESISTANCE TO - INCLUDED FCGR2B - ILE232THR 405 405 GLY ARG OSTEOPETROSIS - AUTOSOMAL RECESSIVE 1 TCIRG1 - GLY405ARG 444 444 ARG LEU OSTEOPETROSIS - AUTOSOMAL RECESSIVE 1 TCIRG1 - ARG444LEU 843 1033 ILE THR BLOOM SYNDROME RECQL3 - ILE843THR 1036 1226 CYS PHE BLOOM SYNDROME RECQL3 - CYS1036PHE 577 577 LYS MET WERNER SYNDROME RECQL2 - LYS577MET 125 125 LYS ASN WERNER SYNDROME RECQL2 - LYS125ASN - LYS135GLU 135 135 LYS GLU WERNER SYNDROME RECQL2 - LYS125ASN - LYS135GLU 128 128 SER PHE ACTH DEFICIENCY - ISOLATED TBX19 - SER128PHE 86 86 MET ARG ACTH DEFICIENCY - ISOLATED TBX19 - MET86ARG 383 383 GLU ALA EPILEPSY - LATERAL TEMPORAL LOBE - AUTOSOMAL DOMINANT LGI1 - GLU383ALA 46 46 CYS ARG EPILEPSY - LATERAL TEMPORAL LOBE - AUTOSOMAL DOMINANT LGI1 - CYS46ARG 318 318 PHE CYS EPILEPSY - LATERAL TEMPORAL LOBE - AUTOSOMAL DOMINANT LGI1 - PHE318CYS 232 232 LEU PRO EPILEPSY - LATERAL TEMPORAL LOBE - AUTOSOMAL DOMINANT LGI1 - LEU232PRO 136 136 ARG TRP EPILEPSY - LATERAL TEMPORAL LOBE - AUTOSOMAL DOMINANT LGI1 - ARG136TRP 122 122 ILE LYS EPILEPSY - LATERAL TEMPORAL LOBE - AUTOSOMAL DOMINANT LGI1 - ILE122LYS 7 7 ARG SER NEURONOPATHY - DISTAL HEREDITARY MOTOR - TYPE IIC HSPB3 - ARG7SER 195 195 ALA SER OBESITY - MILD - EARLY-ONSET NR0B2 - ALA195SER 57 57 GLU LYS CUTIS LAXA - AUTOSOMAL RECESSIVE - TYPE I EFEMP2 - GLU57LYS 279 279 ARG CYS CUTIS LAXA - AUTOSOMAL RECESSIVE - TYPE I EFEMP2 - ARG279CYS 228 255 LYS GLU FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1 ACTN4 - LYS228GLU 232 259 THR ILE FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1 ACTN4 - THR232ILE 235 262 SER PRO FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1 ACTN4 - SER235PRO 59 59 SER ASN DIABETES MELLITUS - NONINSULIN-DEPENDENT MAPK8IP1 - SER59ASN 144 144 ASN HIS HEMOCHROMATOSIS - TYPE 4 SLC40A1 - ASN144HIS 77 77 ALA ASP HEMOCHROMATOSIS - TYPE 4 SLC40A1 - ALA77ASP 157 157 ASP GLY HEMOCHROMATOSIS - TYPE 4 SLC40A1 - ASP157GLY 182 182 GLN HIS HEMOCHROMATOSIS - TYPE 4 SLC40A1 - GLN182HIS 323 323 GLY VAL HEMOCHROMATOSIS - TYPE 4 SLC40A1 - GLY323VAL 181 181 ASP VAL HEMOCHROMATOSIS - TYPE 4 SLC40A1 - ASP181VAL 80 80 GLY VAL HEMOCHROMATOSIS - TYPE 4 SLC40A1 - GLY80VAL 267 267 GLY ASP HEMOCHROMATOSIS - TYPE 4 SLC40A1 - GLY267ASP 186 186 GLN LYS MICROTIA - HEARING IMPAIRMENT - AND CLEFT PALATE HOXA2 - GLN186LYS 646 646 ILE VAL CARDIAC CONDUCTION DEFECT - SUSCEPTIBILITY TO AKAP10 - ILE646VAL 274 274 CYS GLY CUTIS LAXA WITH SEVERE PULMONARY - GASTROINTESTINAL - AND URINARY ABNORMALITIES LTBP4 - CYS274GLY 194 194 GLU LYS MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) RRM2B - GLU194LYS 236 236 CYS PHE MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) RRM2B - CYS236PHE 229 229 GLY VAL MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) RRM2B - GLY229VAL 110 110 ARG HIS MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE) RRM2B - ARG110HIS 121 121 ARG HIS MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE) RRM2B - ARG121HIS 172 172 MET LYS HEMOCHROMATOSIS - TYPE 3 TFR2 - MET172LYS 455 455 ARG GLN HEMOCHROMATOSIS - TYPE 1 - MODIFIER OF TFR2 - ARG455GLN 690 690 GLN PRO HEMOCHROMATOSIS - TYPE 3 TFR2 - GLN690PRO 333 333 ARG TRP COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3 TSFM - ARG333TRP 198 198 PRO LEU BILE ACID SYNTHESIS DEFECT - CONGENITAL - 2 AKR1D1 - PRO198LEU 106 106 LEU PHE BILE ACID SYNTHESIS DEFECT - CONGENITAL - 2 AKR1D1 - LEU106PHE 133 133 PRO ARG BILE ACID SYNTHESIS DEFECT - CONGENITAL - 2 AKR1D1 - PRO133ARG 261 261 ARG CYS BILE ACID SYNTHESIS DEFECT - CONGENITAL - 2 AKR1D1 - ARG261CYS 138 138 ARG GLN NEPHROTIC SYNDROME - TYPE 2 NPHS2 - ARG138GLN 20 20 PRO LEU NEPHROTIC SYNDROME - TYPE 2 NPHS2 - PRO20LEU 92 92 GLY CYS NEPHROTIC SYNDROME - TYPE 2 NPHS2 - GLY92CYS 160 160 ASP GLY NEPHROTIC SYNDROME - TYPE 2 NPHS2 - ASP160GLY 180 180 VAL MET NEPHROTIC SYNDROME - TYPE 2 NPHS2 - VAL180MET 291 291 ARG TRP NEPHROTIC SYNDROME - TYPE 2 NPHS2 - ARG291TRP 229 229 ARG GLN NEPHROTIC SYNDROME - TYPE 2 - SUSCEPTIBILITY TO NPHS2 - ARG229GLN 103 103 MET THR ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY ACAD8 - MET103THR 355 355 GLY SER ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY ACAD8 - GLY355SER 308 308 ARG TRP ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY ACAD8 - ARG308TRP 267 267 HIS GLN ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY ACAD8 - HIS267GLN 302 302 ARG GLN ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY ACAD8 - ARG302GLN 130 130 GLN PRO CHANARIN-DORFMAN SYNDROME ABHD5 - GLN130PRO 7 7 GLU LYS CHANARIN-DORFMAN SYNDROME ABHD5 - GLU7LYS 260 260 GLU LYS CHANARIN-DORFMAN SYNDROME ABHD5 - GLU260LYS 193 193 HIS ARG TUMORAL CALCINOSIS - HYPERPHOSPHATEMIC KL - HIS193ARG 443 443 ARG GLN ELLIS-VAN CREVELD SYNDROME EVC - ARG443GLN 307 307 SER PRO WEYERS ACRODENTAL DYSOSTOSIS ELLIS-VAN CREVELD SYNDROME EVC - SER307PRO 264 264 TRP ARG BIRBECK GRANULE DEFICIENCY CD207 - TRP264ARG 175 175 SER ARG RETINAL DYSTROPHY - EARLY-ONSET SEVERE - LRAT-RELATED LRAT - SER175ARG 172 172 LYS ASN BETA-GLYCOPYRANOSIDE TASTING ALCOHOL DEPENDENCE - SUSCEPTIBILITY TO - INCLUDED TAS2R16 - LYS172ASN 207 207 ARG CYS AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY SLC12A6 - ARG207CYS 107 107 ARG SER DIARRHEA 4 - MALABSORPTIVE - CONGENITAL NEUROG3 - ARG107SER 93 93 ARG LEU DIARRHEA 4 - MALABSORPTIVE - CONGENITAL NEUROG3 - ARG93LEU 242 242 ALA SER MCKUSICK-KAUFMAN SYNDROME MKKS - HIS84TYR AND ALA242SER 84 84 HIS TYR MCKUSICK-KAUFMAN SYNDROME MKKS - HIS84TYR AND ALA242SER 37 37 TYR CYS MCKUSICK-KAUFMAN SYNDROME BARDET-BIEDL SYNDROME 6 - INCLUDED MKKS - TYR37CYS 52 52 GLY ASP BARDET-BIEDL SYNDROME 6 MKKS - GLY52ASP 277 277 LEU PRO BARDET-BIEDL SYNDROME 6 MKKS - LEU277PRO 57 57 THR ALA BARDET-BIEDL SYNDROME 6 MKKS - THR57ALA 499 499 CYS SER BARDET-BIEDL SYNDROME 6 MKKS - CYS499SER 325 325 THR PRO BARDET-BIEDL SYNDROME 1 - MODIFIER OF MKKS - THR325PRO 104 104 CYS ARG IMMUNODEFICIENCY - COMMON VARIABLE - 2 IMMUNOGLOBULIN A DEFICIENCY 2 - INCLUDED TNFRSF13B - CYS104ARG 181 181 ALA GLU IMMUNODEFICIENCY - COMMON VARIABLE - 2 IMMUNOGLOBULIN A DEFICIENCY 2 - INCLUDED TNFRSF13B - ALA181GLU 202 202 ARG HIS IMMUNODEFICIENCY - COMMON VARIABLE - 2 TNFRSF13B - ARG202HIS 165 176 TYR CYS COLORECTAL ADENOMATOUS POLYPOSIS - AUTOSOMAL RECESSIVE ENDOMETRIAL CANCER - INCLUDED MUTYH - TYR165CYS 382 393 GLY ASP COLORECTAL ADENOMATOUS POLYPOSIS - AUTOSOMAL RECESSIVE ENDOMETRIAL CANCER - INCLUDED MUTYH - GLY382ASP 391 402 PRO SER GASTRIC CANCER - SOMATIC MUTYH - PRO391SER 400 411 GLN ARG GASTRIC CANCER - SOMATIC MUTYH - GLN400ARG 225 225 ARG TRP GLYCOGEN CONTENT IN SKELETAL MUSCLE - INCREASED PRKAG3 - ARG225TRP 451 451 GLY GLU PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS - AUTOSOMAL DOMINANT - 4 POLG2 - GLY451GLU 253 253 LEU PRO SPINOCEREBELLAR ATAXIA 5 SPTBN2 - LEU253PRO 110 110 LEU VAL NEPHROLITHIASIS/OSTEOPOROSIS - HYPOPHOSPHATEMIC - 2 SLC9A3R1 - LEU110VAL 153 153 ARG GLN NEPHROLITHIASIS/OSTEOPOROSIS - HYPOPHOSPHATEMIC - 2 SLC9A3R1 - ARG153GLN 225 225 GLU LYS NEPHROLITHIASIS/OSTEOPOROSIS - HYPOPHOSPHATEMIC - 2 SLC9A3R1 - GLU225LYS 420 420 GLU LYS ATOPY - SUSCEPTIBILITY TO DERMATITIS - ATOPIC - 6 - SUSCEPTIBILITY TO - INCLUDED;; ASTHMA - SUSCEPTIBILITY TO - INCLUDED SPINK5 - GLU420LYS 747 747 GLU GLY TRICHOEPITHELIOMA - MULTIPLE FAMILIAL - 1 BROOKE-SPIEGLER SYNDROME - INCLUDED CYLD - GLU747GLY 166 166 ARG TRP KERATOCONUS 1 VSX1 - ARG166TRP 160 160 GLY ASP CORNEAL DYSTROPHY - POSTERIOR POLYMORPHOUS - 1 VSX1 - GLY160ASP 159 159 LEU MET KERATOCONUS 1 VSX1 - LEU159MET 256 256 ALA SER CRANIOFACIAL ANOMALIES - EMPTY SELLA TURCICA - CORNEAL ENDOTHELIAL CHANGES - AND ABNORMAL RETINAL AND AUDITORY BIPOLAR CELLS VSX1 - ALA256SER 17 17 LEU PRO KERATOCONUS 1 VSX1 - LEU17PRO 109 109 CYS SER MULIBREY NANISM TRIM37 - CYS109SER 337 337 MET VAL AMYOTROPHIC LATERAL SCLEROSIS 10 - WITHOUT FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS TARDBP - MET337VAL 331 331 GLN LYS AMYOTROPHIC LATERAL SCLEROSIS 10 - WITHOUT FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS TARDBP - GLN331LYS 294 294 GLY ALA AMYOTROPHIC LATERAL SCLEROSIS 10 - WITHOUT FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS TARDBP - GLY294ALA 290 290 GLY ALA AMYOTROPHIC LATERAL SCLEROSIS 10 - WITHOUT FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS TARDBP - GLY290ALA 298 298 GLY SER AMYOTROPHIC LATERAL SCLEROSIS 10 - WITHOUT FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS TARDBP - GLY298SER 169 169 ASP GLY AMYOTROPHIC LATERAL SCLEROSIS 10 - WITHOUT FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS TARDBP - ASP169GLY 348 348 GLY CYS AMYOTROPHIC LATERAL SCLEROSIS 10 - WITHOUT FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS TARDBP - GLY348CYS 343 343 GLN ARG AMYOTROPHIC LATERAL SCLEROSIS 10 - WITHOUT FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS TARDBP - GLN343ARG 315 315 ALA THR AMYOTROPHIC LATERAL SCLEROSIS 10 - WITHOUT FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS TARDBP - ALA315THR 295 295 GLY SER AMYOTROPHIC LATERAL SCLEROSIS 10 - WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS TARDBP - GLY295SER 263 263 LYS GLU FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS - TARDBP-RELATED TARDBP - LYS263GLU 382 382 ALA THR AMYOTROPHIC LATERAL SCLEROSIS 10 - WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS TARDBP - ALA382THR 435 435 SER PHE ACHROMATOPSIA 3 CNGB3 - SER435PHE 469 469 TYR ASP STARGARDT DISEASE 1 CNGB3 - TYR469ASP 324 324 ARG GLY OSTEOARTHRITIS SUSCEPTIBILITY 1 FRZB - ARG324GLY 200 200 ARG TRP OSTEOARTHRITIS SUSCEPTIBILITY 1 FRZB - ARG200TRP 186 186 LYS ASN POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY TREM2 - LYS186ASN 134 134 ASP GLY POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY TREM2 - ASP134GLY 126 126 VAL GLY POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY TREM2 - VAL126GLY 208 208 PRO SER CONGENITAL HEART DISEASE - NONSYNDROMIC - 2 TAB2 - PRO208SER 230 230 GLN LYS CONGENITAL HEART DISEASE - NONSYNDROMIC - 2 TAB2 - GLN230LYS 105 104 ASP GLY MASP2 DEFICIENCY MASP2 - ASP105GLY 163 163 TYR CYS DIARRHEA 3 - SECRETORY SODIUM - CONGENITAL - SYNDROMIC SPINT2 - TYR163CYS 1 1 MET LEU DIARRHEA 3 - SECRETORY SODIUM - CONGENITAL - SYNDROMIC SPINT2 - MET1LEU 291 291 LEU PRO ESOPHAGEAL SQUAMOUS CELL CARCINOMA - SOMATIC WWOX - LEU291PRO 389 389 GLY ARG CRANIOMETAPHYSEAL DYSPLASIA - AUTOSOMAL DOMINANT ANKH - GLY389ARG 48 48 MET THR CHONDROCALCINOSIS 2 ANKH - MET48THR 5 5 PRO LEU CHONDROCALCINOSIS 2 ANKH - PRO5LEU 5 5 PRO THR CHONDROCALCINOSIS 2 ANKH - PRO5THR 339 339 CYS ARG CRANIOMETAPHYSEAL DYSPLASIA - AUTOSOMAL DOMINANT ANKH - CYS339ARG 391 391 LEU PRO CRANIOMETAPHYSEAL DYSPLASIA - AUTOSOMAL DOMINANT ANKH - LEU391PRO 334 334 LEU ARG CRANIOMETAPHYSEAL DYSPLASIA - AUTOSOMAL DOMINANT ANKH - LEU334ARG 112 112 ARG CYS HETEROTAXY - VISCERAL - 2 - AUTOSOMAL CFC1 - ARG112CYS 125 125 LEU VAL SPONDYLOCOSTAL DYSOSTOSIS 2 - AUTOSOMAL RECESSIVE MESP2 - LEU125VAL 216 216 ASP HIS DYSTONIA 1 - TORSION - MODIFIER OF TOR1A - ASP216HIS 205 205 PHE ILE DYSTONIA 1 - TORSION - LATE-ONSET TOR1A - PHE205ILE 672 672 SER ARG SICK SINUS SYNDROME 2 - AUTOSOMAL DOMINANT HCN4 - SER672ARG 553 553 ASP ASN SICK SINUS SYNDROME 2 - AUTOSOMAL DOMINANT HCN4 - ASP553ASN 480 480 GLY ARG SICK SINUS SYNDROME 2 - AUTOSOMAL DOMINANT HCN4 - GLY480ARG 105 105 THR ILE ASTHMA - SUSCEPTIBILITY TO HNMT - THR105ILE 820 820 GLY ARG RENAL TUBULAR ACIDOSIS - DISTAL - AUTOSOMAL RECESSIVE ATP6V0A4 - GLY820ARG1 580 580 MET THR RENAL TUBULAR ACIDOSIS - DISTAL - AUTOSOMAL RECESSIVE ATP6V0A4 - MET580THR 524 524 PRO LEU RENAL TUBULAR ACIDOSIS - DISTAL - AUTOSOMAL RECESSIVE ATP6V0A4 - PRO524LEU 807 807 ARG GLN RENAL TUBULAR ACIDOSIS - DISTAL - AUTOSOMAL RECESSIVE - WITH LATE-ONSET SENSORINEURAL HEARING LOSS ATP6V0A4 - ARG807GLN 608 608 ARG PRO DEAFNESS - AUTOSOMAL RECESSIVE 18 USH1C - ARG608PRO 130 130 VAL ILE USHER SYNDROME - TYPE IC USH1C - VAL130ILE 362 362 ASP TYR MUCOLIPIDOSIS IV MCOLN1 - ASP362TYR 403 403 ARG CYS MUCOLIPIDOSIS IV MCOLN1 - ARG403CYS 24 24 ARG TRP IMMUNODEFICIENCY WITH HYPER-IgM - TYPE 2 AICDA - ARG24TRP 80 80 TRP ARG IMMUNODEFICIENCY WITH HYPER-IgM - TYPE 2 AICDA - TRP80ARG 106 106 LEU PRO IMMUNODEFICIENCY WITH HYPER-IgM - TYPE 2 AICDA - LEU106PRO 139 139 MET VAL IMMUNODEFICIENCY WITH HYPER-IgM - TYPE 2 AICDA - MET139VAL 151 151 PHE SER IMMUNODEFICIENCY WITH HYPER-IgM - TYPE 2 AICDA - PHE151SER 245 245 ARG HIS SANFILIPPO SYNDROME A SGSH - ARG245HIS 74 74 ARG CYS SANFILIPPO SYNDROME A SGSH - ARG74CYS 66 66 SER TRP SANFILIPPO SYNDROME A SGSH - SER66TRP 150 150 ARG GLN SANFILIPPO SYNDROME A SGSH - ARG150GLN 447 447 GLU LYS SANFILIPPO SYNDROME A SGSH - GLU447LYS 369 369 GLU LYS SANFILIPPO SYNDROME A SGSH - GLU369LYS 433 433 ARG GLN SANFILIPPO SYNDROME A SGSH - ARG433GLN 128 128 PRO LEU SANFILIPPO SYNDROME A SGSH - PRO128LEU 206 206 ARG PRO SANFILIPPO SYNDROME A SGSH - ARG206PRO 585 585 LYS ARG TUBEROUS SCLEROSIS 1 TSC1 - LYS585ARG 732 732 HIS TYR FOCAL CORTICAL DYSPLASIA OF TAYLOR - TYPE IIB TUBEROUS SCLEROSIS 1 - INCLUDED TSC1 - HIS732TYR 224 224 MET ARG TUBEROUS SCLEROSIS 1 TSC1 - MET224ARG 180 180 LEU PRO TUBEROUS SCLEROSIS 1 TSC1 - LEU180PRO 300 300 GLY GLU OPTIC ATROPHY 1 OPA1 - GLY300GLU 290 290 ARG GLN OPTIC ATROPHY 1 OPA1 - ARG290GLN 445 445 ARG HIS OPTIC ATROPHY 1 WITH DEAFNESS OPTIC ATROPHY - DEAFNESS - OPHTHALMOPLEGIA - AND MYOPATHY - INCLUDED OPA1 - ARG445HIS 582 582 TYR CYS OPTIC ATROPHY - DEAFNESS - OPHTHALMOPLEGIA - AND MYOPATHY OPA1 - TYR582CYS 174 174 LYS ARG MACULAR CORNEAL DYSTROPHY - TYPE I CHST6 - LYS174ARG 203 203 ASP GLU MACULAR CORNEAL DYSTROPHY - TYPE I CHST6 - ASP203GLU 200 200 LEU ARG MACULAR CORNEAL DYSTROPHY - TYPE I MACULAR CORNEAL DYSTROPHY - TYPE II - INCLUDED CHST6 - LEU200ARG 102 102 CYS GLY MACULAR CORNEAL DYSTROPHY - TYPE I CHST6 - CYS102GLY 110 110 TYR CYS MACULAR CORNEAL DYSTROPHY - TYPE I CHST6 - TYR110CYS 276 276 LEU PRO MACULAR CORNEAL DYSTROPHY - TYPE I CHST6 - LEU276PRO 93 93 ARG SER MACULAR CORNEAL DYSTROPHY - TYPE II CHST6 - ARG93SER 553 553 ARG HIS DEVELOPMENTAL VERBAL DYSPRAXIA FOXP2 - ARG553HIS 51 51 ARG GLN OBESITY - SUSCEPTIBILITY TO METABOLIC SYNDROME - SUSCEPTIBILITY TO - INCLUDED GHRL - ARG51GLN 72 72 LEU MET OBESITY - AGE AT ONSET OF METABOLIC SYNDROME - SUSCEPTIBILITY TO - INCLUDED GHRL - LEU72MET 90 90 GLN LEU OBESITY - SUSCEPTIBILITY TO GHRL - GLN90LEU 12 12 SER CYS CEREBRAL PALSY - SPASTIC - SYMMETRIC - AUTOSOMAL RECESSIVE GAD1 - SER12CYS 217 217 SER LEU PROSTATE CANCER - SUSCEPTIBILITY TO ELAC2 - SER217LEU 541 541 ALA THR PROSTATE CANCER - SUSCEPTIBILITY TO ELAC2 - ALA541THR 781 781 ARG HIS PROSTATE CANCER - SUSCEPTIBILITY TO ELAC2 - ARG781HIS 622 622 GLU VAL PROSTATE CANCER - SUSCEPTIBILITY TO ELAC2 - GLU622VAL 417 417 ASN SER LEUKEMIA - JUVENILE MYELOMONOCYTIC ARHGAP26 - ASN417SER 209 209 GLU LYS PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY - AUTOSOMAL RECESSIVE ARFGEF2 - GLU209LYS 15 15 GLN LYS ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME AAAS - GLN15LYS 263 263 SER PRO ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME AAAS - SER263PRO 430 430 LEU PHE ACHALASIA-ALACRIMA SYNDROME AAAS - LEU430PHE 486 486 GLU LYS GIANT AXONAL NEUROPATHY 1 GAN - GLU486LYS 423 423 ILE THR GIANT AXONAL NEUROPATHY 1 GAN - ILE423THR 138 138 ARG HIS GIANT AXONAL NEUROPATHY 1 GAN - ARG138HIS 15 15 ARG SER GIANT AXONAL NEUROPATHY 1 GAN - ARG15SER 169 169 GLU LYS GIANT AXONAL NEUROPATHY 1 GAN - GLU169LYS 176 176 ARG GLN HYPOPHOSPHATEMIC RICKETS - AUTOSOMAL DOMINANT FGF23 - ARG176GLN 179 179 ARG TRP HYPOPHOSPHATEMIC RICKETS - AUTOSOMAL DOMINANT FGF23 - ARG179TRP 71 71 SER GLY TUMORAL CALCINOSIS - FAMILIAL - HYPERPHOSPHATEMIC FGF23 - SER71GLY 96 96 MET THR TUMORAL CALCINOSIS - FAMILIAL - HYPERPHOSPHATEMIC FGF23 - MET96THR 129 129 SER PHE TUMORAL CALCINOSIS - FAMILIAL - HYPERPHOSPHATEMIC FGF23 - SER129PHE 41 41 SER LEU THYROID CARCINOMA - FOLLICULAR MINPP1 - SER41LEU 270 270 GLN ARG THYROID CARCINOMA - FOLLICULAR MINPP1 - GLN270ARG 218 218 ARG GLN PARIETAL FORAMINA 2 ALX4 - ARG218GLN 272 272 ARG PRO PARIETAL FORAMINA 2 ALX4 - ARG272PRO 1 1 MET THR 46 -XY GONADAL DYSGENESIS - PARTIAL - WITH MINIFASCICULAR NEUROPATHY DHH - MET1THR 162 162 LEU PRO 46 -XY GONADAL DYSGENESIS - COMPLETE - DHH-RELATED DHH - LEU162PRO 137 137 PHE LEU ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA GJB4 - PHE137LEU - 409T-C 137 137 PHE LEU ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA GJB4 - PHE137LEU - 411C-A 85 85 THR PRO ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA GJB4 - THR85PRO 12 12 GLY ASP ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA GJB4 - GLY12ASP 22 22 ARG HIS ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA GJB4 - ARG22HIS 189 189 PHE TYR ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA GJB4 - PHE189TYR 616 616 ARG GLN BRACHYOLMIA TYPE 3 TRPV4 - ARG616GLN 620 620 VAL ILE BRACHYOLMIA TYPE 3 TRPV4 - VAL620ILE 594 594 ARG HIS SPONDYLOMETAPHYSEAL DYSPLASIA - KOZLOWSKI TYPE PARASTREMMATIC DWARFISM - INCLUDED TRPV4 - ARG594HIS 333 333 ASP GLY SPONDYLOMETAPHYSEAL DYSPLASIA - KOZLOWSKI TYPE TRPV4 - ASP333GLY 716 716 ALA SER SPONDYLOMETAPHYSEAL DYSPLASIA - KOZLOWSKI TYPE TRPV4 - ALA716SER 331 331 ILE PHE METATROPIC DYSPLASIA TRPV4 - ILE331PHE 799 799 PRO LEU METATROPIC DYSPLASIA SPONDYLOEPIPHYSEAL DYSPLASIA - MAROTEAUX TYPE - INCLUDED TRPV4 - PRO799LEU 315 315 ARG TRP SPINAL MUSCULAR ATROPHY - DISTAL - CONGENITAL NONPROGRESSIVE SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY - INCLUDED;; HEREDITARY MOTOR AND SENSORY NEUROPATHY - TYPE IIC - INCLUDED TRPV4 - ARG315TRP 269 269 ARG HIS SPINAL MUSCULAR ATROPHY - DISTAL - CONGENITAL NONPROGRESSIVE HEREDITARY MOTOR AND SENSORY NEUROPATHY - TYPE IIC - INCLUDED TRPV4 - ARG269HIS 316 316 ARG CYS HEREDITARY MOTOR AND SENSORY NEUROPATHY - TYPE IIC SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY - INCLUDED TRPV4 - ARG316CYS 269 269 ARG CYS HEREDITARY MOTOR AND SENSORY NEUROPATHY - TYPE IIC TRPV4 - ARG269CYS 19 19 PRO SER SODIUM SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1 TRPV4 - PRO19SER (dbSNP rs3742030) 799 799 PRO ALA METATROPIC DYSPLASIA TRPV4 - PRO799ALA 799 799 PRO SER METATROPIC DYSPLASIA TRPV4 - PRO799SER 799 799 PRO ARG METATROPIC DYSPLASIA TRPV4 - PRO799ARG 278 278 GLU LYS SPONDYLOMETAPHYSEAL DYSPLASIA - KOZLOWSKI TYPE TRPV4 - GLU278LYS 79 79 GLY LYS SPONDYLOMETAPHYSEAL DYSPLASIA - KOZLOWSKI TYPE SPONDYLOEPIPHYSEAL DYSPLASIA - MAROTEAUX TYPE - INCLUDED TRPV4 - GLY79LYS 183 183 GLU LYS SPONDYLOEPIPHYSEAL DYSPLASIA - MAROTEAUX TYPE TRPV4 - GLU183LYS 602 602 TYR CYS SPONDYLOEPIPHYSEAL DYSPLASIA - MAROTEAUX TYPE TRPV4 - GLU183LYS 374 374 VAL ILE CEREBRAL INFARCTION - SUSCEPTIBILITY TO PRKCH - VAL374ILE 112 112 ARG CYS ADIPONECTIN DEFICIENCY ADIPOQ - ARG112CYS 827 827 ARG LEU CONE-ROD DYSTROPHY 13 RPGRIP1 - ARG827LEU 547 547 ALA SER CONE-ROD DYSTROPHY 13 RPGRIP1 - ALA547SER 1114 1114 ASP GLY LEBER CONGENITAL AMAUROSIS 6 RPGRIP1 - ASP1114GLY 419 419 ARG HIS SITOSTEROLEMIA ABCG5 - ARG419HIS 419 419 ARG PRO SITOSTEROLEMIA ABCG5 - ARG419PRO 389 389 ARG HIS SITOSTEROLEMIA ABCG5 - ARG389HIS 574 574 GLY ARG SITOSTEROLEMIA ABCG8 - GLY574ARG 263 263 ARG GLN SITOSTEROLEMIA ABCG8 - ARG263GLN 596 596 LEU ARG SITOSTEROLEMIA ABCG8 - LEU596ARG 231 231 PRO THR SITOSTEROLEMIA ABCG8 - PRO231THR 19 19 ASP HIS GALLBLADDER DISEASE 4 ABCG8 - ASP19HIS 1 1 MET ILE OSTEOGENESIS IMPERFECTA - TYPE IIB CRTAP - MET1ILE 251 251 TRP CYS DEAFNESS - AUTOSOMAL RECESSIVE 10 TMPRSS3 - TRP251CYS 404 404 PRO LEU DEAFNESS - AUTOSOMAL RECESSIVE 10 DEAFNESS - CHILDHOOD-ONSET NEUROSENSORY - AUTOSOMAL RECESSIVE 8 - INCLUDED TMPRSS3 - PRO404LEU 216 216 ARG LEU DEAFNESS - AUTOSOMAL RECESSIVE 10 TMPRSS3 - ARG216LEU 262 262 GLY ASP DEAFNESS - AUTOSOMAL RECESSIVE 23 PCDH15 - GLY262ASP 134 134 ARG GLY DEAFNESS - AUTOSOMAL RECESSIVE 23 PCDH15 - ARG134GLY 528 528 VAL ASP DEAFNESS - AUTOSOMAL RECESSIVE 23 PCDH15 - VAL528ASP 1496 1496 GLN HIS USHER SYNDROME - TYPE ID CDH23 - GLN1496HIS 1746 1746 ARG GLN USHER SYNDROME - TYPE ID CDH23 - ARG1746GLN 1243 1243 ASP ASN DEAFNESS - AUTOSOMAL RECESSIVE 12 CDH23 - ASP1243ASN 1400 1400 ASP ASN DEAFNESS - AUTOSOMAL RECESSIVE 12 CDH23 - ASP1400ASN 2148 2148 ASP ASN DEAFNESS - AUTOSOMAL RECESSIVE 12 CDH23 - ASP2148ASN 1341 1341 ASP ASN DEAFNESS - AUTOSOMAL RECESSIVE 12 CDH23 - ASP1341ASN 1888 1888 PHE SER DEAFNESS - AUTOSOMAL RECESSIVE 12 CDH23 - PHE1888SER 3189 3189 ARG TRP USHER SYNDROME - DIGENIC - TYPE ID/F CDH23 - ARG3189TRP 1209 1209 THR ALA USHER SYNDROME - TYPE ID USHER SYNDROME - DIGENIC - TYPE ID/F - INCLUDED CDH23 - THR1209ALA 240 240 PRO LEU DEAFNESS - AUTOSOMAL RECESSIVE 12 CDH23 - PRO240LEU 301 301 ARG GLN DEAFNESS - AUTOSOMAL RECESSIVE 12 CDH23 - ARG301GLN 734 734 SER LEU MAJEED SYNDROME LPIN2 - SER734LEU 304 304 ARG GLN PITUITARY ADENOMA - ACTH-SECRETING AIP - ARG304GLN 119 119 ARG TRP SCHIZOPHRENIA - SUSCEPTIBILITY TO RTN4R - ARG119TRP 196 196 ARG HIS SCHIZOPHRENIA - SUSCEPTIBILITY TO RTN4R - ARG196HIS 232 232 SER LEU 17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY HSD17B3 - SER232LEU 235 235 MET VAL 17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY HSD17B3 - MET235VAL 80 80 ARG GLN 17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY HSD17B3 - ARG80GLN 203 203 ALA VAL 17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY HSD17B3 - ALA203VAL 80 80 ARG TRP 17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY HSD17B3 - ARG80TRP 56 56 ALA THR 17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY HSD17B3 - ALA56THR 130 130 ASN SER 17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY HSD17B3 - ASN130SER 268 268 CYS TYR 17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY HSD17B3 - CYS268TYR 84 84 ILE SER BLEPHAROPHIMOSIS - PTOSIS - AND EPICANTHUS INVERSUS - TYPE I FOXL2 - ILE84SER 258 258 TYR ASN PREMATURE OVARIAN FAILURE 3 FOXL2 - TYR258ASN 187 187 GLY ASP PREMATURE OVARIAN FAILURE 3 FOXL2 - GLY187ASP 85 85 VAL ASP DEAFNESS - AUTOSOMAL RECESSIVE 29 CLDN14 - VAL85ASP 101 101 GLY ARG DEAFNESS - AUTOSOMAL RECESSIVE 29 CLDN14 - GLY101ARG 326 326 GLU LYS EPILEPTIC ENCEPHALOPATHY - EARLY INFANTILE - 10 PNKP - GLU326LYS 176 176 LEU PHE EPILEPTIC ENCEPHALOPATHY - EARLY INFANTILE - 10 PNKP - LEU176PHE 199 199 THR MET HYPERGLYCINURIA IMINOGLYCINURIA - DIGENIC - INCLUDED SLC6A20 - THR199MET 667 667 PHE CYS PENDRED SYNDROME SLC26A4 - PHE667CYS 497 497 GLY SER ENLARGED VESTIBULAR AQUEDUCT SLC26A4 - GLY497SER/ILE490LEU 236 236 LEU PRO PENDRED SYNDROME SLC26A4 - LEU236PRO 416 416 THR PRO PENDRED SYNDROME SLC26A4 - THR416PRO 384 384 GLU GLY PENDRED SYNDROME SLC26A4 - GLU384GLY 209 209 GLY VAL ENLARGED VESTIBULAR AQUEDUCT SLC26A4 - GLY209VAL 369 369 LYS GLU ENLARGED VESTIBULAR AQUEDUCT SLC26A4 - LYS369GLU 723 723 HIS ARG ENLARGED VESTIBULAR AQUEDUCT PENDRED SYNDROME - INCLUDED SLC26A4 - HIS723ARG 721 721 THR MET ENLARGED VESTIBULAR AQUEDUCT PENDRED SYNDROME - INCLUDED SLC26A4 - THR721MET 372 372 ALA VAL ENLARGED VESTIBULAR AQUEDUCT SLC26A4 - ALA372VAL 445 445 LEU TRP PENDRED SYNDROME SLC26A4 - LEU445TRP 193 193 THR ILE PENDRED SYNDROME SLC26A4 - THR193ILE 133 133 SER THR PENDRED SYNDROME SLC26A4 - SER133THR 138 138 VAL PHE PENDRED SYNDROME SLC26A4 - VAL138PHE 530 530 TYR HIS PENDRED SYNDROME SLC26A4 - TYR530HIS 384 384 GLU GLY PENDRED SYNDROME SLC26A4 - GLU384GLY 29 29 GLU GLN ENLARGED VESTIBULAR AQUEDUCT SLC26A4 - GLU29GLN 514 514 GLN LYS ENLARGED VESTIBULAR AQUEDUCT SLC26A4 - GLN514LYS 335 335 PHE LEU ENLARGED VESTIBULAR AQUEDUCT - DIGENIC SLC26A4 - PHE335LEU 378 378 ARG GLY PARKINSON DISEASE 15 - AUTOSOMAL RECESSIVE FBXO7 - ARG378GLY 22 22 THR MET PARKINSON DISEASE 15 - AUTOSOMAL RECESSIVE FBXO7 - THR22MET 1482 1482 THR ILE AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1 - SUSCEPTIBILITY TO TRPM7 - THR1482ILE - (dbSNP rs8042919) 56 56 PRO SER AMYOTROPHIC LATERAL SCLEROSIS 8 SPINAL MUSCULAR ATROPHY - LATE-ONSET - FINKEL TYPE - INCLUDED;; AMYOTROPHIC LATERAL SCLEROSIS - TYPICAL - INCLUDED VAPB - PRO56SER 46 46 THR ILE AMYOTROPHIC LATERAL SCLEROSIS 8 VAPB - THR46ILE 133 133 CYS TYR NEUROPATHY - HEREDITARY SENSORY - TYPE I SPTLC1 - CYS133TYR 133 133 CYS TRP NEUROPATHY - HEREDITARY SENSORY - TYPE I SPTLC1 - CYS133TRP 144 144 VAL ASP NEUROPATHY - HEREDITARY SENSORY - TYPE I SPTLC1 - VAL144ASP 387 387 GLY ALA NEUROPATHY - HEREDITARY SENSORY - TYPE I SPTLC1 - GLY387ALA 331 331 SER PHE NEUROPATHY - HEREDITARY SENSORY AND AUTONOMIC - TYPE I - SEVERE SPTLC1 - SER331PHE 352 352 ALA VAL NEUROPATHY - HEREDITARY SENSORY - TYPE I SPTLC1 - ALA352VAL 382 382 GLY VAL NEUROPATHY - HEREDITARY SENSORY - TYPE IC SPTLC2 - GLY382VAL 359 359 VAL MET NEUROPATHY - HEREDITARY SENSORY - TYPE IC SPTLC2 - VAL359MET 504 504 ILE PHE NEUROPATHY - HEREDITARY SENSORY AND AUTONOMIC - TYPE IC - SEVERE SPTLC2 - ILE504PHE 202 201 PRO HIS HYPERCHOLESTEROLEMIA - AUTOSOMAL RECESSIVE ARH - PRO202HIS 170 170 THR MET HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY - AUTOSOMAL DOMINANT BCOM1 - THR170MET 41 41 THR ILE MEGALOBLASTIC ANEMIA 1 - NORWEGIAN TYPE AMN - THR41ILE 1119 1119 GLN ARG MOWAT-WILSON SYNDROME ZEB2 - GLN1119ARG 170 170 ARG HIS COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5 MRPS22 - ARG170HIS 391 391 GLN PRO STRIATONIGRAL DEGENERATION - INFANTILE NUP62 - GLN391PRO 81 81 HIS ARG DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY DMGDH - HIS81ARG 236 236 GLY ARG BIRK-BAREL SYNDROME KCNK9 - GLY236ARG 147 147 ARG CYS CONGENITAL DISORDER OF GLYCOSYLATION - TYPE IIc SLC35C1 - ARG147CYS 308 308 THR ARG CONGENITAL DISORDER OF GLYCOSYLATION - TYPE IIc SLC35C1 - THR308ARG 47 47 PRO ALA BREAST CANCER - EARLY-ONSET BRIP1 - PRO47ALA 299 299 MET ILE BREAST CANCER - EARLY-ONSET BRIP1 - MET299ILE 147 147 ALA THR MYOPATHY - MYOFIBRILLAR - ZASP-RELATED LDB3 - ALA147THR 165 165 ALA VAL MYOPATHY - MYOFIBRILLAR - ZASP-RELATED LDB3 - ALA165VAL 268 268 ARG CYS MYOPATHY - MYOFIBRILLAR - ZASP-RELATED LDB3 - ARG268CYS 352 352 ILE MET CARDIOMYOPATHY - DILATED - 1C LDB3 - ILE352MET 196 196 SER LEU CARDIOMYOPATHY - DILATED - WITH LEFT VENTRICULAR NONCOMPACTION LDB3 - SER196LEU 213 213 THR ILE CARDIOMYOPATHY - DILATED - WITH LEFT VENTRICULAR NONCOMPACTION LDB3 - THR213ILE 117 117 ASP ASN CARDIOMYOPATHY - DILATED - WITH LEFT VENTRICULAR NONCOMPACTION LDB3 - ASP117ASN 136 136 LYS MET CARDIOMYOPATHY - DILATED - 1C LDB3 - LYS136MET 626 626 ASP ASN CARDIOMYOPATHY - DILATED - 1C LEFT VENTRICULAR NONCOMPACTION 3 - INCLUDED LDB3 - ASP626ASN 258 258 SER LEU CONGENITAL DISORDER OF GLYCOSYLATION - TYPE Ik ALG1 - SER258LEU 342 342 GLU PRO CONGENITAL DISORDER OF GLYCOSYLATION - TYPE Ik ALG1 - GLU342PRO 150 150 SER ARG CONGENITAL DISORDER OF GLYCOSYLATION - TYPE Ik ALG1 - SER150ARG 280 280 SER LEU MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS MLC1 - SER280LEU 93 93 SER LEU MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS MLC1 - SER93LEU 141 141 ASN LYS MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS MLC1 - ASN141LYS 141 141 ASN SER MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS MLC1 - ASN141SER 92 92 PRO SER MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS MLC1 - PRO92SER 59 59 GLY GLU MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS MLC1 - GLY59GLU 40 40 GLU LYS REDUCED TRIGLYCERIDES - SUSCEPTIBILITY TO ANGPTL4 - GLU40LYS 1280 1280 GLN HIS MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM - TYPE II PCNT - GLN1280HIS 85 85 LEU SER CONGENITAL DISORDER OF GLYCOSYLATION - TYPE Io DPM3 - LEU85SER 908 908 GLY ARG INFLAMMATORY BOWEL DISEASE 1 - SUSCEPTIBILITY TO NOD2 - GLY908ARG 702 702 ARG TRP INFLAMMATORY BOWEL DISEASE 1 - SUSCEPTIBILITY TO NOD2 - ARG702TRP 334 334 ARG GLN BLAU SYNDROME NOD2 - ARG334GLN 469 469 LEU PHE BLAU SYNDROME NOD2 - LEU469PHE 334 334 ARG TRP BLAU SYNDROME SARCOIDOSIS - EARLY-ONSET - INCLUDED NOD2 - ARG334TRP 496 496 HIS LEU SARCOIDOSIS - EARLY-ONSET NOD2 - HIS496LEU 382 382 ASP GLU SARCOIDOSIS - EARLY-ONSET NOD2 - ASP382GLU 612 612 ALA THR SARCOIDOSIS - EARLY-ONSET CARD15 - ALA612THR 383 383 GLU LYS BLAU SYNDROME NOD2 - GLU383LYS 90 90 ILE LYS CHOREOACANTHOCYTOSIS VPS13A - ILE90LYS 136 136 HIS ARG JOHANSON-BLIZZARD SYNDROME UBR1 - HIS136ARG 1 1 MET THR OMENN SYNDROME DCLRE1C - MET1THR 35 35 HIS ASP OMENN SYNDROME DCLRE1C - HIS35ASP 98 98 GLN LEU CHARCOT-MARIE-TOOTH DISEASE - AXONAL - TYPE 2A1 KIF1B - GLN98LEU 656 656 GLU VAL NEUROBLASTOMA - SUSCEPTIBILITY TO - 1 KIF1B - GLU656VAL 827 827 THR ILE NEUROBLASTOMA - SUSCEPTIBILITY TO - 1 KIF1B - THR827ILE 1217 1217 PRO SER NEUROBLASTOMA - SUSCEPTIBILITY TO - 1 KIF1B - PRO1217SER 1481 1481 SER ASN PHEOCHROMOCYTOMA NEUROBLASTOMA - SUSCEPTIBILITY TO - 1 - INCLUDED KIF1B - SER1481ASN 203 203 ASN SER FRONTORHINY ALX3 - ASN203SER 168 168 LEU VAL FRONTORHINY ALX3 - LEU168VAL 183 183 ARG TRP FRONTORHINY ALX3 - ARG183TRP 196 196 ARG TRP FRONTORHINY ALX3 - ARG196TRP 37 37 GLY SER AICARDI-GOUTIERES SYNDROME 4 RNASEH2A - GLY37SER 280 280 THR MET C-LIKE SYNDROME CD96 - THR280MET 553 553 VAL GLY CRANIOECTODERMAL DYSPLASIA ITF122 - VAL553GLY 373 373 SER PHE CRANIOECTODERMAL DYSPLASIA ITF122 - SER373PHE 7 7 TRP CYS CRANIOECTODERMAL DYSPLASIA ITF122 - TRP7CYS 152 152 ILE MET ATRIAL SEPTAL DEFECT 4 TBX20 - ILE152MET 121 121 ILE MET ATRIAL SEPTAL DEFECT 4 TBX20 - ILE121MET 475 475 ALA PRO PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS - AUTOSOMAL DOMINANT - 3 C10ORF2 - ALA475PRO 359 359 ALA THR PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS - AUTOSOMAL DOMINANT - 3 C10ORF2 - ALA359THR 474 474 TRP CYS PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS - AUTOSOMAL DOMINANT - 3 C10ORF2 - TRP474CYS 315 315 TRP LEU PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS - AUTOSOMAL DOMINANT - 3 C10ORF2 - TRP315LEU 354 354 ARG PRO PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS - AUTOSOMAL DOMINANT - 3 C10ORF2 - ARG354PRO 381 381 LEU PRO PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS - AUTOSOMAL DOMINANT - 3 C10ORF2 - LEU381PRO 334 334 ARG GLN PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS - DIGENIC C10ORF2 - ARG334GLN 369 369 SER TYR PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS - AUTOSOMAL DOMINANT - 3 C10ORF2 - SER369TYR 319 319 LYS GLU PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS - AUTOSOMAL DOMINANT - 3 C10ORF2 - LYS319GLU 457 457 THR ILE MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) C10ORF2 - THR457ILE 303 303 ARG GLN PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS - AUTOSOMAL DOMINANT - 3 C10ORF2 - ARG303GLN 374 374 ARG TRP PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS - AUTOSOMAL DOMINANT - 3 C10ORF2 - ARG374TRP 318 318 ALA THR MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) C10ORF2 - ALA318THR 253 253 ASP ASN LETHAL CONGENITAL CONTRACTURAL SYNDROME 3 PIP5K1C - ASP253ASN 396 397 ARG TRP HERMANSKY-PUDLAK SYNDROME 3 HPS3 - ARG396TRP 86 86 GLY ARG MAL DE MELEDA SLURP1 - 1764G-A - GLY86ARG 86 86 GLY ARG MAL DE MELEDA SLURP1 - 1764G-C - GLY86ARG 1 1 MET LEU MAL DE MELEDA SLURP1 - MET1LEU 15 15 TRP ARG MAL DE MELEDA SLURP1 - TRP15ARG 77 77 CYS ALA MAL DE MELEDA SLURP1 - CYS77ALA 99 99 CYS TYR MAL DE MELEDA SLURP1 - CYS99TYR 380 380 ARG TRP HYPOURICEMIA - RENAL - 2 SLC2A9 - ARG380TRP 198 198 ARG CYS HYPOURICEMIA - RENAL - 2 SLC2A9 - ARG198CYS 412 412 PRO ARG HYPOURICEMIA - RENAL - 2 SLC2A9 - PRO412ARG 81 81 SER ARG ARTERIAL TORTUOSITY SYNDROME SLC2A10 - SER81ARG 426 426 GLY TRP ARTERIAL TORTUOSITY SYNDROME SLC2A10 - GLY426TRP 132 132 ARG TRP ARTERIAL TORTUOSITY SYNDROME SLC2A10 - ARG132TRP 75 75 VAL GLY BARDET-BIEDL SYNDROME 2 BBS2 - VAL75GLY 315 315 ARG TRP BARDET-BIEDL SYNDROME 2 BBS2 - ARG315TRP 104 104 ASP ALA BARDET-BIEDL SYNDROME 2 BBS2 - ASP104ALA 634 634 ARG PRO BARDET-BIEDL SYNDROME 2 BBS2 - ARG634PRO 70 70 ASN SER BARDET-BIEDL SYNDROME 2 BBS2 - ASN70SER 560 560 THR ILE BARDET-BIEDL SYNDROME 2 BBS2 - THR560ILE 139 139 GLY VAL BARDET-BIEDL SYNDROME 2 BBS2 - GLY139VAL 23 23 GLY VAL BASAL GANGLIA DISEASE - BIOTIN-RESPONSIVE SLC19A3 - GLY23VAL 422 422 THR ALA BASAL GANGLIA DISEASE - BIOTIN-RESPONSIVE SLC19A3 - THR422ALA 44 44 LYS GLU ENCEPHALOPATHY - THIAMINE-RESPONSIVE SLC19A3 - LYS44GLU 320 320 GLU GLN ENCEPHALOPATHY - THIAMINE-RESPONSIVE SLC19A3 - GLU320GLN 411 521 GLY ARG NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 - ATYPICAL - INCLUDED PANK2 - GLY411ARG 154 264 ARG TRP NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 PANK2 - ARG154TRP 176 286 ARG CYS NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 PANK2 - ARG176CYS 361 471 SER ASN NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 PANK2 - SER361ASN 240 240 SER PRO NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 - ATYPICAL PANK2 - SER240PRO 124 234 THR ALA NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 - ATYPICAL PANK2 - THR124ALA 168 278 ARG CYS NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 - ATYPICAL PANK2 - ARG168CYS 418 528 THR MET NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 - ATYPICAL - INCLUDED PANK2 - THR418MET 327 437 MET THR HARP SYNDROME PANK2 - MET327THR 212 212 ALA PRO LIPODYSTROPHY - CONGENITAL GENERALIZED - TYPE 2 BSCL2 - ALA212PRO 88 88 ASN SER SILVER SPASTIC PARAPLEGIA SYNDROME SPINAL MUSCULAR ATROPHY - DISTAL - TYPE V - INCLUDED BSCL2 - ASN88SER 90 90 SER LEU SILVER SPASTIC PARAPLEGIA SYNDROME BSCL2 - SER90LEU 385 386 PRO ARG SHORT SLEEPER BHLHE41 - PRO385ARG 724 724 PRO LEU WOLFRAM SYNDROME WFS1 - PRO724LEU (dbSNP rs28937890) 695 695 GLY VAL WOLFRAM SYNDROME WFS1 - GLY695VAL (dbSNP rs28937891) 504 504 PRO LEU WOLFRAM SYNDROME WFS1 - PRO504LEU (dbSNP rs28937892) 716 716 ALA THR DEAFNESS - AUTOSOMAL DOMINANT 6 WFS1 - ALA716THR (dbSNP rs28937893) 829 829 LEU PRO DEAFNESS - AUTOSOMAL DOMINANT 6 WFS1 - LEU829PRO 699 699 THR MET DEAFNESS - AUTOSOMAL DOMINANT 6 WFS1 - THR699MET (dbSNP rs28937894) 831 831 GLY ASP DEAFNESS - AUTOSOMAL DOMINANT 6 WFS1 - GLY831ASP (dbSNP rs28937895) 634 634 LYS THR DEAFNESS - AUTOSOMAL DOMINANT 6 WFS1 - LYS634THR 864 864 GLU LYS WOLFRAM-LIKE SYNDROME - AUTOSOMAL DOMINANT WFS1 - GLU864LYS (dbSNP rs74315205) 859 859 ARG GLN DEAFNESS - AUTOSOMAL DOMINANT 6 WFS1 - ARG859GLN 361 361 LEU PRO OCULOCUTANEOUS ALBINISM - TYPE IV SLC45A2 - LEU361PRO 486 486 ALA VAL OCULOCUTANEOUS ALBINISM - TYPE IV SLC45A2 - ALA486VAL 157 157 ASP ASN OCULOCUTANEOUS ALBINISM - TYPE IV SLC45A2 - ASP157ASN 272 272 GLU LYS SKIN/HAIR/EYE PIGMENTATION 5 - BLACK/NONBLACK HAIR SKIN/HAIR/EYE PIGMENTATION 5 - DARK/FAIR SKIN - INCLUDED;; SKIN/HAIR/EYE PIGMENTATION 5 - DARK/LIGHT EYES - INCLUDED SLC45A2 - GLU272LYS 374 374 PHE LEU SKIN/HAIR/EYE PIGMENTATION 5 - BLACK/NONBLACK HAIR SKIN/HAIR/EYE PIGMENTATION 5 - DARK/FAIR SKIN - INCLUDED;; SKIN/HAIR/EYE PIGMENTATION 5 - DARK/LIGHT EYES - INCLUDED SLC45A2 - PHE374LEU 273 273 GLY GLU RIGID SPINE MUSCULAR DYSTROPHY 1 SEPN1 - GLY273GLU 1 1 MET VAL RIGID SPINE MUSCULAR DYSTROPHY 1 SEPN1 - MET1VAL 466 466 ARG GLN RIGID SPINE MUSCULAR DYSTROPHY 1 SEPN1 - ARG466GLN 453 453 TRP SER RIGID SPINE MUSCULAR DYSTROPHY 1 SEPN1 - TRP453SER 315 315 GLY SER RIGID SPINE MUSCULAR DYSTROPHY 1 MYOPATHY - CONGENITAL - WITH FIBER-TYPE DISPROPORTION - INCLUDED SEPN1 - GLY315SER 98 137 ASP VAL HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY NT5C3 - ASP98VAL 190 229 ASN SER HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY NT5C3 - ASN190SER 241 280 GLY ARG HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY NT5C3 - GLY241ARG 182 182 ILE THR NANOPHTHALMOS 2 MFRP - ILE182THR 1583 1583 LEU ARG PLEUROPULMONARY BLASTOMA DICER1 - LEU1583ARG 180 180 SER LEU INVASIVE PNEUMOCOCCAL DISEASE - PROTECTION AGAINST BACTEREMIA - PROTECTION AGAINST - INCLUDED;; MALARIA - RESISTANCE TO - INCLUDED;; MYCOBACTERIUM TUBERCULOSIS - PROTECTION AGAINST - INCLUDED TIRAP - SER180LEU 228 228 PHE ILE ODONTOONYCHODERMAL DYSPLASIA WNT10A - PHE228ILE 128 128 ARG GLN ODONTOONYCHODERMAL DYSPLASIA WNT10A - ARG128GLN 169 169 GLY ASP CYSTINOSIS - NEPHROPATHIC CTNS - GLY169ASP 42 42 VAL ILE CYSTINOSIS - ATYPICAL NEPHROPATHIC CTNS - VAL42ILE 197 197 GLY ARG CYSTINOSIS - OCULAR NONNEPHROPATHIC CTNS - GLY197ARG 339 339 GLY ARG CYSTINOSIS - NEPHROPATHIC CTNS - GLY339ARG 323 323 ASN LYS CYSTINOSIS - LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE CTNS - ASN323LYS 110 110 GLY VAL CYSTINOSIS - ATYPICAL NEPHROPATHIC CTNS - GLY110VAL 139 139 SER PHE CYSTINOSIS - LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE CYSTINOSIS - ATYPICAL NEPHROPATHIC - INCLUDED CTNS - SER139PHE 225 225 ARG GLN LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER EIF2B3 - ARG225GLN 87 87 ALA VAL LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER EIF2B3 - ALA87VAL 346 346 ILE THR LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER EIF2B3 - ILE346THR 165 165 THR ALA MICROPHTHALMIA - ISOLATED - WITH CATARACT 2 SIX6 - THR165ALA 250 250 GLU GLN PYOGENIC STERILE ARTHRITIS - PYODERMA GANGRENOSUM - AND ACNE PSTPIP1 - GLU250GLN 230 230 ALA THR PYOGENIC STERILE ARTHRITIS - PYODERMA GANGRENOSUM - AND ACNE PSTPIP1 - ALA230THR 32 32 PRO LEU ATAXIA - EARLY-ONSET - WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA APTX - PRO32LEU 89 89 VAL GLY ATAXIA - EARLY-ONSET - WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA APTX - VAL89GLY 27 27 HIS ARG ATAXIA - EARLY-ONSET - WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA APTX - HIS27ARG 223 223 LEU PRO ATAXIA - ADULT-ONSET - WITH OCULOMOTOR APRAXIA APTX - LEU223PRO 719 719 SER ARG DEAFNESS - AUTOSOMAL DOMINANT - WITHOUT VESTIBULAR INVOLVEMENT ESPN - SER719ARG 744 744 ASP ASN DEAFNESS - AUTOSOMAL DOMINANT - WITHOUT VESTIBULAR INVOLVEMENT ESPN - ASP744ASN 774 774 ARG GLN DEAFNESS - AUTOSOMAL DOMINANT - WITHOUT VESTIBULAR INVOLVEMENT ESPN - ARG774GLN 156 157 CYS TYR SPASTIC PARALYSIS - INFANTILE-ONSET ASCENDING ALS2 - CYS156TYR 185 185 GLY CYS HYPERTRIGLYCERIDEMIA - SUSCEPTIBILITY TO APOA5 - GLY185CYS 19 19 SER TRP HYPERTRIGLYCERIDEMIA - SUSCEPTIBILITY TO APOA5 - SER19TRP 120 120 MET LYS USHER SYNDROME - TYPE III CLRN1 - MET120LYS 48 48 ASN LYS USHER SYNDROME - TYPE III CLRN1 - ASN48LYS 150 150 LEU PRO USHER SYNDROME - TYPE III CLRN1 - LEU150PRO 40 40 CYS GLY USHER SYNDROME - TYPE III CLRN1 - CYS40GLY 326 326 ALA THR HEMANGIOMA - CAPILLARY INFANTILE - SUSCEPTIBILITY TO ANTXR1 - ALA326THR 1 1 MET LEU BARTTER SYNDROME - TYPE 4A BSND - MET1LEU 8 8 ARG TRP BARTTER SYNDROME - TYPE 4A BSND - ARG8TRP 1 1 MET ILE BARTTER SYNDROME - TYPE 4A BSND - MET1ILE 10 10 GLY SER BARTTER SYNDROME - TYPE 4A BSND - GLY10SER 8 8 ARG LEU BARTTER SYNDROME - TYPE 4A BSND - ARG8LEU 47 47 GLY ARG BARTTER SYNDROME - TYPE 4A BSND - GLY47ARG 12 12 ILE THR SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION BSND - ILE12THR 439 441 ALA VAL FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 NLRP3 - ALA439VAL 198 200 VAL MET FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 NLRP3 - VAL198MET 627 629 GLU GLY FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 NLRP3 - GLU627GLY 352 354 ALA VAL MUCKLE-WELLS SYNDROME NLRP3 - ALA352VAL 260 262 ARG TRP MUCKLE-WELLS SYNDROME FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 - INCLUDED NLRP3 - ARG260TRP 569 571 GLY ARG MUCKLE-WELLS SYNDROME NLRP3 - GLY569ARG 573 575 PHE SER CINCA SYNDROME NLRP3 - PHE573SER 303 305 ASP ASN CINCA SYNDROME MUCKLE-WELLS SYNDROME - INCLUDED NLRP3 - ASP303ASN 309 311 PHE SER CINCA SYNDROME NLRP3 - PHE309SER 353 355 LEU PRO FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 NLRP3 - LEU353PRO 471 471 TYR SER DESMOSTEROLOSIS DHCR24 - TYR471SER 294 294 ASN THR DESMOSTEROLOSIS DHCR24 - ASN294THR AND LYS306ASN 306 306 LYS ASN DESMOSTEROLOSIS DHCR24 - ASN294THR AND LYS306ASN 191 191 GLU LYS DESMOSTEROLOSIS DHCR24 - GLU191LYS 216 216 ALA PRO RETINITIS PIGMENTOSA 11 PRPF31 - ALA216PRO 194 194 ALA GLU RETINITIS PIGMENTOSA 11 PRPF31 - ALA194GLU 317 317 PRO ARG ERYTHROCYTOSIS - FAMILIAL - 3 EGLN1 - PRO317ARG 371 371 ARG HIS ERYTHROCYTOSIS - FAMILIAL - 3 EGLN1 - ARG371HIS 374 374 HIS ARG ERYTHROCYTOSIS - FAMILIAL - 3 EGLN1 - HIS374ARG 239 239 ARG CYS SPASTIC PARAPLEGIA 3 - AUTOSOMAL DOMINANT SPG3A - ARG239CYS 259 259 SER TYR SPASTIC PARAPLEGIA 3 - AUTOSOMAL DOMINANT SPG3A - SER259TYR 258 258 HIS ARG SPASTIC PARAPLEGIA 3 - AUTOSOMAL DOMINANT SPG3A - HIS258ARG 217 217 ARG GLN SPASTIC PARAPLEGIA 3 - AUTOSOMAL DOMINANT SPG3A - ARG217GLN 408 408 MET VAL SPASTIC PARAPLEGIA 3 - AUTOSOMAL DOMINANT SPG3A - MET408VAL 415 415 ARG TRP SPASTIC PARAPLEGIA 3 - AUTOSOMAL DOMINANT SPG3A - ARG415TRP 157 157 LEU TRP SPASTIC PARAPLEGIA 3 - AUTOSOMAL DOMINANT SPG3A - LEU157TRP 399 399 GLY SER PARKINSON DISEASE 13 - AUTOSOMAL DOMINANT HTRA2 - GLY399SER 141 141 ALA SER PARKINSON DISEASE 13 - SUSCEPTIBILITY TO HTRA2 - ALA141SER 213 213 GLU GLY LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER OVARIOLEUKODYSTROPHY - INCLUDED EIF2B2 - GLU213GLY 316 316 VAL ASP LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER EIF2B2 - VAL316ASP 171 171 SER PHE OVARIOLEUKODYSTROPHY EIF2B2 - SER171PHE 444 483 LEU PRO GAUCHER DISEASE - TYPE II GAUCHER DISEASE - TYPE III - INCLUDED;; GAUCHER DISEASE - TYPE I - INCLUDED;; PARKINSON DISEASE - LATE-ONSET SUSCEPTIBILITY TO - INCLUDED;; DEMENTIA - LEWY BODY - SUSCEPTIBILITY TO - INCLUDED GBA - LEU444PRO 415 454 PRO ARG GAUCHER DISEASE - TYPE II GBA - PRO415ARG 370 409 ASN SER GAUCHER DISEASE - TYPE I PARKINSON DISEASE - LATE-ONSET SUSCEPTIBILITY TO - INCLUDED;; DEMENTIA - LEWY BODY - SUSCEPTIBILITY TO - INCLUDED GBA - ASN370SER 119 119 ARG GLN GAUCHER DISEASE - TYPE I GAUCHER DISEASE - PERINATAL LETHAL - INCLUDED GBA - ARG119GLN 394 433 VAL LEU GAUCHER DISEASE - TYPE III GAUCHER DISEASE - TYPE I - INCLUDED GBA - VAL394LEU 409 448 ASP HIS GAUCHER DISEASE - TYPE IIIC GAUCHER DISEASE - TYPE I - INCLUDED;; GAUCHER DISEASE - TYPE II - INCLUDED;; GAUCHER DISEASE - TYPE III - INCLUDED;; GAUCHER DISEASE - PERINATAL LETHAL - INCLUDED GBA - ASP409HIS 409 448 ASP VAL GAUCHER DISEASE - TYPE III GBA - ASP409VAL 463 502 ARG CYS GAUCHER DISEASE - TYPE I GAUCHER DISEASE - TYPE II - INCLUDED;; GAUCHER DISEASE - TYPE III - INCLUDED;; PARKINSON DISEASE - LATE-ONSET - SUSCEPTIBILITY TO - INCLUDED GBA - ARG463CYS 444 483 LEU PRO GAUCHER DISEASE - TYPE I GAUCHER DISEASE - TYPE II - INCLUDED;; GAUCHER DISEASE - TYPE III - INCLUDED;; GAUCHER DISEASE - PERINATAL LETHAL - INCLUDED GBA - LEU444PRO - ALA456PRO - AND VAL460VAL 456 495 ALA PRO GAUCHER DISEASE - TYPE I GAUCHER DISEASE - TYPE II - INCLUDED;; GAUCHER DISEASE - TYPE III - INCLUDED;; GAUCHER DISEASE - PERINATAL LETHAL - INCLUDED GBA - LEU444PRO - ALA456PRO - AND VAL460VAL 460 499 VAL VAL GAUCHER DISEASE - TYPE I GAUCHER DISEASE - TYPE II - INCLUDED;; GAUCHER DISEASE - TYPE III - INCLUDED;; GAUCHER DISEASE - PERINATAL LETHAL - INCLUDED GBA - LEU444PRO - ALA456PRO - AND VAL460VAL 216 255 PHE TYR GAUCHER DISEASE - TYPE I GBA - PHE216TYR 326 365 GLU LYS GAUCHER DISEASE - TYPE I GBA - ASP140HIS AND GLU326LYS 140 179 ASP HIS GAUCHER DISEASE - TYPE I GBA - ASP140HIS AND GLU326LYS 157 196 LYS GLN GAUCHER DISEASE - TYPE I GBA - LYS157GLN 213 252 PHE ILE GAUCHER DISEASE - TYPE III GAUCHER DISEASE - TYPE II - INCLUDED;; GAUCHER DISEASE - TYPE I - INCLUDED GBA - PHE213ILE 289 328 PRO LEU GAUCHER DISEASE - TYPE I GBA - PRO289LEU 323 323 TYR ILE GAUCHER DISEASE - TYPE I GBA - TYR323ILE 122 161 PRO SER GAUCHER DISEASE - TYPE I GBA - PRO122SER 212 251 TYR HIS GAUCHER DISEASE - TYPE I GBA - TYR212HIS 478 517 GLY SER GAUCHER DISEASE - TYPE I GBA - GLY478SER 496 535 ARG HIS GAUCHER DISEASE - TYPE I GBA - ARG496HIS 15 54 VAL LEU GAUCHER DISEASE - TYPE I GBA - VAL15LEU 46 85 GLY GLU GAUCHER DISEASE - TYPE I GBA - GLY46GLU 188 227 ASN SER GAUCHER DISEASE - TYPE I GAUCHER DISEASE - TYPE III - INCLUDED GBA - ASN188SER 216 255 PHE VAL GAUCHER DISEASE - TYPE I GBA - PHE216VAL 309 348 ALA VAL GAUCHER DISEASE - TYPE I GBA - ALA309VAL 312 351 TRP CYS GAUCHER DISEASE - TYPE I GBA - TRP312CYS 325 364 GLY ARG GAUCHER DISEASE - TYPE II GBA - GLY325ARG 342 381 CYS GLY GAUCHER DISEASE - TYPE II GBA - CYS342GLY 364 403 SER THR GAUCHER DISEASE - TYPE I GBA - SER364THR 353 392 ARG GLY GAUCHER DISEASE - TYPE III GBA - ARG353GLY 401 440 PRO LEU GAUCHER DISEASE - TYPE I GBA - PRO401LEU 311 350 HIS ARG GAUCHER DISEASE - PERINATAL LETHAL GBA - HIS311ARG 398 437 VAL PHE GAUCHER DISEASE - PERINATAL LETHAL GBA - VAL398PHE 377 416 GLY SER GAUCHER DISEASE - TYPE I GAUCHER DISEASE - TYPE III - INCLUDED GBA - GLY377SER 257 296 ARG GLU GAUCHER DISEASE - PERINATAL LETHAL GBA - ARG257GLU 131 170 ARG LEU GAUCHER DISEASE - PERINATAL LETHAL GBA - ARG131LEU 79 118 LYS ASN GAUCHER DISEASE - TYPE I GAUCHER DISEASE - TYPE III - INCLUDED GBA - LYS79ASN 251 290 PHE LEU GAUCHER DISEASE - PERINATAL LETHAL GBA - PHE251LEU 371 410 LEU VAL GAUCHER DISEASE - TYPE I GBA - LEU371VAL 255 294 HIS GLN GAUCHER DISEASE - TYPE II GAUCHER DISEASE - TYPE III - INCLUDED GBA - HIS255GLN AND ASP409HIS 409 448 ASP HIS GAUCHER DISEASE - TYPE II GAUCHER DISEASE - TYPE III - INCLUDED GBA - HIS255GLN AND ASP409HIS 443 482 ASP ASN PARKINSON DISEASE - LATE-ONSET - SUSCEPTIBILITY TO GBA - ASP443ASN 71 71 GLY ASP HEMOCHROMATOSIS - TYPE 2A - MODIFIER OF HAMP - GLY71ASP 139 139 TYR HIS DYSKERATOSIS CONGENITA - AUTOSOMAL RECESSIVE NOLA2 - TYR139HIS 126 126 VAL MET DYSKERATOSIS CONGENITA - AUTOSOMAL RECESSIVE NOLA2 - VAL126MET 34 34 ARG TRP DYSKERATOSIS CONGENITA - AUTOSOMAL RECESSIVE NOLA3 - ARG34TRP 340 340 TRP ARG MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY ZMPSTE24 - TRP340ARG 248 248 PRO LEU MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY ZMPSTE24 - PRO248LEU 177 177 GLY ALA MICROCEPHALY - AMISH TYPE SLC25A19 - GLY177ALA 125 125 GLY SER STRIATAL NECROSIS - BILATERAL - AND PROGRESSIVE POLYNEUROPATHY SLC25A19 - GLY125SER 266 266 ARG CYS KLIPPEL-FEIL SYNDROME 3 - AUTOSOMAL DOMINANT MICROPHTHALMIA - ISOLATED - WITH COLOBOMA 6 - INCLUDED GDF3 - ARG266CYS 305 305 LEU PRO MICROPHTHALMIA - ISOLATED 7 COLOBOMA - OCULAR - INCLUDED GDF3 - LEU305PRO 195 195 ARG GLN MICROPHTHALMIA - ISOLATED 7 GDF3 - ARG195GLN 274 274 ARG TRP MICROPHTHALMIA - ISOLATED - WITH COLOBOMA 6 GDF3 - ARG274TRP 35 35 ARG TRP GRISCELLI SYNDROME - TYPE 3 MLPH - ARG35TRP 446 479 ARG CYS CEREBROTENDINOUS XANTHOMATOSIS CYP27A1 - ARG446CYS 362 395 ARG CYS CEREBROTENDINOUS XANTHOMATOSIS CYP27A1 - ARG362CYS 441 474 ARG GLN CEREBROTENDINOUS XANTHOMATOSIS CYP27A1 - ARG441GLN 441 474 ARG TRP CEREBROTENDINOUS XANTHOMATOSIS CYP27A1 - ARG441TRP 372 405 ARG GLN CEREBROTENDINOUS XANTHOMATOSIS CYP27A1 - ARG372GLN 362 395 ARG SER CEREBROTENDINOUS XANTHOMATOSIS CYP27A1 - ARG362SER 441 474 ARG TRP CEREBROTENDINOUS XANTHOMATOSIS CYP27A1 - ARG441TRP 112 145 GLY GLU CEREBROTENDINOUS XANTHOMATOSIS CYP27A1 - GLY112GLU 339 339 THR MET CEREBROTENDINOUS XANTHOMATOSIS CYP27A1 - THR339MET 479 479 ARG GLY CEREBROTENDINOUS XANTHOMATOSIS CYP27A1 - ARG479GLY 108 108 VAL GLY MICROVILLUS INCLUSION DISEASE MYO5B - VAL108GLY 656 656 ARG CYS MICROVILLUS INCLUSION DISEASE MYO5B - ARG656CYS 660 660 PRO LEU MICROVILLUS INCLUSION DISEASE MYO5B - PRO660LEU 29 29 SER PRO ESOPHAGEAL SQUAMOUS CELL CARCINOMA - SOMATIC LZTS1 - SER29PRO 119 119 LYS GLU ESOPHAGEAL SQUAMOUS CELL CARCINOMA - SOMATIC LZTS1 - LYS119GLU 87 87 ALA VAL CARDIOMYOPATHY - HYPERTROPHIC - MIDVENTRICULAR - DIGENIC MYLK2 - ALA87VAL 95 95 ALA GLU CARDIOMYOPATHY - HYPERTROPHIC - MIDVENTRICULAR - DIGENIC MYLK2 - ALA95GLU 93 93 GLY SER OPTIC ATROPHY AND CATARACT - AUTOSOMAL DOMINANT OPA3 - GLY93SER 105 105 GLN GLU OPTIC ATROPHY AND CATARACT - AUTOSOMAL DOMINANT OPA3 - GLN105GLU 309 309 TYR CYS MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION) - TYPE B - 5 FKRP - TYR309CYS 448 448 PRO LEU MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION) - TYPE B - 5 FKRP - PRO448LEU 276 276 LEU ILE MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE) - TYPE C - 5 FKRP - LEU276ILE 316 316 PRO THR MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION) - TYPE B - 5 FKRP - PRO316THR 221 221 SER ARG MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION) - TYPE B - 5 FKRP - SER221ARG 455 455 ALA ASP MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION) - TYPE B - 5 FKRP - ALA455ASP 405 405 VAL LEU MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION) - TYPE B - 5 FKRP - VAL405LEU 54 54 ARG TRP MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE) - TYPE C - 5 FKRP - ARG54TRP 79 79 VAL MET MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE) - TYPE C - 5 FKRP - VAL79MET 134 134 ARG TRP MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE) - TYPE C - 5 FKRP - ARG134TRP 300 300 VAL ALA MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE) - TYPE C - 5 FKRP - VAL300ALA 307 307 TYR ASN MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES) - TYPE A - 5 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE) - TYPE C - 5 - INCLUDED FKRP - TYR307ASN 318 318 CYS TYR MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES) - TYPE A - 5 FKRP - CYS318TYR 463 463 ASN ASP MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION) - TYPE B - 5 FKRP - ASN463ASP 50 50 PRO LEU WAARDENBURG SYNDROME - TYPE 1 PAX3 - PRO50LEU 81 81 GLY ALA WAARDENBURG SYNDROME - TYPE 1 PAX3 - GLY81ALA 84 84 SER PHE WAARDENBURG SYNDROME - TYPE 3 WAARDENBURG SYNDROME - TYPE 1 - INCLUDED PAX3 - SER84PHE 47 47 ASN LYS CRANIOFACIAL-DEAFNESS-HAND SYNDROME PAX3 - ASN47LYS 47 47 ASN HIS WAARDENBURG SYNDROME - TYPE 3 PAX3 - ASN47HIS 90 90 TYR HIS WAARDENBURG SYNDROME - TYPE 3 PAX3 - TYR90HIS 56 56 ARG LEU WAARDENBURG SYNDROME - TYPE 1 PAX3 - ARG56LEU 161 161 ARG HIS CHARCOT-MARIE-TOOTH DISEASE - DEMYELINATING - AUTOSOMAL RECESSIVE - TYPE 4A GDAP1 - ARG161HIS 282 282 ARG CYS CHARCOT-MARIE-TOOTH DISEASE - RECESSIVE INTERMEDIATE A GDAP1 - ARG282CYS 120 120 ARG TRP CHARCOT-MARIE-TOOTH DISEASE - AXONAL - AUTOSOMAL DOMINANT - TYPE 2K GDAP1 - ARG120TRP 157 157 THR PRO CHARCOT-MARIE-TOOTH DISEASE - AXONAL - AUTOSOMAL DOMINANT - TYPE 2K GDAP1 - THR157PRO 239 239 LEU PHE CHARCOT-MARIE-TOOTH DISEASE - RECESSIVE INTERMEDIATE A GDAP1 - LEU239PHE 218 218 GLN GLU CHARCOT-MARIE-TOOTH DISEASE - AXONAL - AUTOSOMAL DOMINANT - TYPE 2K GDAP1 - GLN218GLU 231 231 PRO LEU CHARCOT-MARIE-TOOTH DISEASE - AXONAL - AUTOSOMAL RECESSIVE - TYPE 2K GDAP1 - PRO231LEU 240 240 CYS TYR CHARCOT-MARIE-TOOTH DISEASE - AUTOSOMAL DOMINANT - TYPE 2K GDAP1 - CYS240TYR 226 226 ARG SER CHARCOT-MARIE-TOOTH DISEASE - AUTOSOMAL DOMINANT - TYPE 2K GDAP1 - ARG226SER 142 152 GLU LYS ECTODERMAL DYSPLASIA - ANHIDROTIC - AUTOSOMAL RECESSIVE EDARADD - GLU142LYS 112 122 LEU ARG ECTODERMAL DYSPLASIA - ANHIDROTIC - AUTOSOMAL DOMINANT EDARADD - LEU112ARG 114 169 ARG HIS AICARDI-GOUTIERES SYNDROME 1 SYSTEMIC LUPUS ERYTHEMATOSUS - SUSCEPTIBILITY TO - INCLUDED TREX1 - ARG114HIS 201 256 VAL ASP AICARDI-GOUTIERES SYNDROME 1 TREX1 - VAL201ASP 200 255 ASP ASN AICARDI-GOUTIERES SYNDROME 1 - AUTOSOMAL DOMINANT TREX1 - ASP200ASN 18 73 ASP ASN CHILBLAIN LUPUS AICARDI-GOUTIERES SYNDROME 1 - AUTOSOMAL DOMINANT - INCLUDED TREX1 - ASP18ASN 548 548 ILE ASN SCHIMKE IMMUNOOSSEOUS DYSPLASIA SMARCAL1 - ILE548ASN 645 645 ARG CYS SCHIMKE IMMUNOOSSEOUS DYSPLASIA SMARCAL1 - ARG645CYS 586 586 ARG TRP SCHIMKE IMMUNOOSSEOUS DYSPLASIA SMARCAL1 - ARG586TRP 764 764 ARG GLN SCHIMKE IMMUNOOSSEOUS DYSPLASIA SMARCAL1 - ARG764GLN 49 50 LEU PRO GLYCINE N-METHYLTRANSFERASE DEFICIENCY GNMT - LEU49PRO 176 177 HIS ASN GLYCINE N-METHYLTRANSFERASE DEFICIENCY GNMT - HIS176ASN 820 820 ARG HIS CONE-ROD DYSTROPHY 7 RIMS1 - ARG820HIS 155 155 LEU HIS VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 NLRP1 - LEU155HIS 174 174 ASN SER COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 GFM1 - ASN174SER 496 496 MET ARG COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 GFM1 - MET496ARG 222 222 THR PRO CRYPTORCHIDISM LGR8 - THR222PRO 233 249 GLY VAL VON WILLEBRAND DISEASE - PLATELET-TYPE GP1BA - GLY233VAL 57 73 LEU PHE BERNARD-SOULIER SYNDROME - TYPE A - AUTOSOMAL DOMINANT GP1BA - LEU57PHE 239 255 MET VAL VON WILLEBRAND DISEASE - PLATELET-TYPE GP1BA - MET239VAL 156 172 ALA VAL BERNARD-SOULIER SYNDROME - TYPE A BERNARD-SOULIER SYNDROME - TYPE A - AUTOSOMAL DOMINANT - INCLUDED GP1BA - ALA156VAL 85 85 ALA GLU BETA-UREIDOPROPIONASE DEFICIENCY UPB1 - ALA85GLU 70 70 ARG PRO BETA-UREIDOPROPIONASE DEFICIENCY UPB1 - ARG70PRO 2143 2143 HIS GLU WEAVER SYNDROME NSD1 - HIS2143GLU 2183 2183 CYS SER WEAVER SYNDROME NSD1 - CYS2183SER 2202 2202 CYS TYR SOTOS SYNDROME NSD1 - CYS2202TYR 208 208 ASN TYR LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER EIF2B1 - ASN208TYR 357 357 ARG GLN LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER EIF2B4 - ARG357GLN 374 374 ARG CYS LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER EIF2B4 - ARG374CYS 228 228 ALA VAL LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER EIF2B4 - ALA228VAL 465 465 CYS ARG OVARIOLEUKODYSTROPHY EIF2B4 - CYS465ARG 489 489 TYR HIS OVARIOLEUKODYSTROPHY EIF2B4 - TYR489HIS 36 36 THR MET POLYCYSTIC KIDNEY DISEASE - AUTOSOMAL RECESSIVE PKHD1 - THR36MET 1664 1664 SER PHE POLYCYSTIC KIDNEY DISEASE - AUTOSOMAL RECESSIVE PKHD1 - SER1664PHE 3018 3018 SER PHE POLYCYSTIC KIDNEY DISEASE - AUTOSOMAL RECESSIVE PKHD1 - SER3018PHE 1741 1741 VAL MET POLYCYSTIC KIDNEY DISEASE - AUTOSOMAL RECESSIVE PKHD1 - VAL1741MET 3553 3553 ILE THR POLYCYSTIC KIDNEY DISEASE - AUTOSOMAL RECESSIVE PKHD1 - ILE3553THR 3471 3471 VAL GLY POLYCYSTIC KIDNEY DISEASE - AUTOSOMAL RECESSIVE PKHD1 - VAL3471GLY 572 572 ASP ASN DEAFNESS - AUTOSOMAL DOMINANT 36 TMC1 - ASP572ASN 654 654 MET VAL DEAFNESS - AUTOSOMAL RECESSIVE 7 TMC1 - MET654VAL 572 572 ASP HIS DEAFNESS - AUTOSOMAL DOMINANT 36 TMC1 - ASP572HIS 515 515 CYS ARG DEAFNESS - AUTOSOMAL RECESSIVE 7 TMC1 - CYS515ARG 279 279 ARG TRP ATELOSTEOGENESIS - TYPE II DIASTROPHIC DYSPLASIA - INCLUDED;; EPIPHYSEAL DYSPLASIA - MULTIPLE - 4 - INCLUDED SLC26A2 - ARG279TRP 255 255 GLY GLU ATELOSTEOGENESIS - TYPE II SLC26A2 - GLY255GLU 715 715 ALA VAL ATELOSTEOGENESIS - TYPE II SLC26A2 - ALA715VAL 425 425 ASN ASP ACHONDROGENESIS - TYPE IB SLC26A2 - ASN425ASP 678 678 GLY VAL ACHONDROGENESIS - TYPE IB SLC26A2 - GLY678VAL 454 454 GLN PRO DIASTROPHIC DYSPLASIA - BROAD BONE-PLATYSPONDYLIC VARIANT SLC26A2 - GLN454PRO 653 653 CYS SER EPIPHYSEAL DYSPLASIA - MULTIPLE - 4 SLC26A2 - CYS653SER 512 512 THR LYS DE LA CHAPELLE DYSPLASIA DIASTROPHIC DYSPLASIA - INCLUDED SLC26A2 - THR512LYS 133 133 ALA VAL DIASTROPHIC DYSPLASIA SLC26A2 - ALA133VAL 123 123 GLY ASP CEROID LIPOFUSCINOSIS - NEURONAL - 6 CLN6 - GLY123ASP 182 182 MET LEU ATRIAL SEPTAL DEFECT 6 TLL1 - MET182LEU 238 238 VAL ALA ATRIAL SEPTAL DEFECT 6 TLL1 - VAL238ALA 629 629 ILE VAL ATRIAL SEPTAL DEFECT 6 TLL1 - ILE629VAL 209 209 GLY SER AICARDI-GOUTIERES SYNDROME 5 SAMHD1 - GLY209SER 123 123 HIS PRO AICARDI-GOUTIERES SYNDROME 5 SAMHD1 - HIS123PRO 254 254 MET VAL AICARDI-GOUTIERES SYNDROME 5 SAMHD1 - MET254VAL 376 376 ARG TRP THYROID DYSHORMONOGENESIS 6 DUOX2 - ARG376TRP 3 3 GLY ASP MALONYL-CoA DECARBOXYLASE DEFICIENCY MLYCD - GLY3ASP 40 40 MET THR MALONYL-CoA DECARBOXYLASE DEFICIENCY MLYCD - MET40THR 447 447 ILE PHE THYROID DYSHORMONOGENESIS 2A TPO - ILE447PHE 453 453 TYR ASP THYROID DYSHORMONOGENESIS 2A TPO - TYR453ASP 590 590 GLY SER THYROID DYSHORMONOGENESIS 2A TPO - GLY590SER 799 799 GLU LYS THYROID DYSHORMONOGENESIS 2A TPO - GLU799LYS 648 648 ARG GLN THYROID DYSHORMONOGENESIS 2A TPO - ARG648GLN 693 693 ARG TRP THYROID DYSHORMONOGENESIS 2A TPO - ARG693TRP 660 660 GLN GLU THYROID DYSHORMONOGENESIS 2A TPO - GLN660GLU 827 827 GLY ARG ICHTHYOSIS WITH HYPOTRICHOSIS - AUTOSOMAL RECESSIVE ST14 - GLY827ARG 1 1 MET ILE ICHTHYOSIS WITH HYPOTRICHOSIS - AUTOSOMAL RECESSIVE ST14 - MET1ILE 91 91 ASP ASN ACID ALPHA-GLUCOSIDASE - ALLELE 2 GAA - ASP91ASN 318 318 MET THR GLYCOGEN STORAGE DISEASE II - INFANTILE FORM GAA - MET318THR 521 521 GLU LYS GLYCOGEN STORAGE DISEASE II - INFANTILE FORM GAA - GLU521LYS 643 643 GLY ARG GLYCOGEN STORAGE DISEASE II - ADULT FORM GAA - GLY643ARG 725 725 ARG TRP GLYCOGEN STORAGE DISEASE II - ADULT FORM GAA - ARG725TRP 299 299 LEU ARG GLYCOGEN STORAGE DISEASE II - INFANTILE FORM GAA - LEU299ARG 529 529 SER VAL GLYCOGEN STORAGE DISEASE II - ADULT FORM GAA - SER529VAL 645 645 ASP GLU GLYCOGEN STORAGE DISEASE II - INFANTILE FORM GAA - ASP645GLU 689 689 GLU LYS ACID ALPHA-GLUCOSIDASE - ALLELE 4 GAA - GLU689LYS 545 545 PRO LEU GLYCOGEN STORAGE DISEASE II - ADULT FORM GAA - PRO545LEU 237 237 ALA VAL GLYCOGEN STORAGE DISEASE II - ADULT FORM GAA - ALA237VAL 293 293 GLY ARG GLYCOGEN STORAGE DISEASE II - ADULT FORM GAA - GLY293ARG 135 135 ARG CYS GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY FTCD - ARG135CYS 299 299 ARG PRO GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY FTCD - ARG299PRO 453 453 ARG CYS HYPERPROLINEMIA - TYPE I SCHIZOPHRENIA - SUSCEPTIBILITY TO - 4 - INCLUDED PRODH - ARG453CYS 289 289 LEU MET HYPERPROLINEMIA - TYPE I SCHIZOPHRENIA - SUSCEPTIBILITY TO - 4 - INCLUDED PRODH - LEU289MET 441 441 LEU PRO HYPERPROLINEMIA - TYPE I SCHIZOPHRENIA - SUSCEPTIBILITY TO - 4 - INCLUDED PRODH - LEU441PRO 455 455 ALA SER HYPERPROLINEMIA - TYPE I SCHIZOPHRENIA - SUSCEPTIBILITY TO - 4 - INCLUDED PRODH - ALA455SER 521 521 GLN ARG HYPERPROLINEMIA - TYPE I SCHIZOPHRENIA - SUSCEPTIBILITY TO - 4 - INCLUDED PRODH - GLN521ARG 431 431 ARG HIS HYPERPROLINEMIA - TYPE I SCHIZOPHRENIA - SUSCEPTIBILITY TO - 4 - INCLUDED PRODH - ARG431HIS 521 521 GLN GLU HYPERPROLINEMIA - TYPE I PRODH - GLN521GLU 466 466 THR MET HYPERPROLINEMIA - TYPE I SCHIZOPHRENIA - SUSCEPTIBILITY TO - 4 - INCLUDED PRODH - THR466MET 352 352 SER LEU HYPERPROLINEMIA - TYPE II ALDH4A1 - SER352LEU 550 550 SER ASN MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES) - TYPE A - 3 POMGNT1 - SER550ASN 493 493 PRO ARG MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES) - TYPE A - 3 POMGNT1 - PRO493ARG 442 442 ARG CYS MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES) - TYPE A - 3 POMGNT1 - ARG442CYS 311 311 ARG GLN MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES) - TYPE A - 3 POMGNT1 - ARG311GLN 556 556 ASP ASN MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE) - TYPE C - 3 POMGNT1 - ASP556ASN 605 605 ARG PRO MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION) - TYPE B - 3 POMGNT1 - ARG605PRO 490 490 CYS TYR MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION) - TYPE B - 3 POMGNT1 - CYS490TYR 154 154 ILE PHE FRIEDREICH ATAXIA FXN - ILE154PHE 130 130 GLY VAL FRIEDREICH ATAXIA FXN - GLY130VAL 1 1 MET ILE FRIEDREICH ATAXIA FXN - MET1ILE 173 173 TRP GLY FRIEDREICH ATAXIA FXN - TRP173GLY 50 50 TYR CYS TREACHER COLLINS SYNDROME TCOF1 - TYR50CYS 370 370 HIS LEU GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY - HEMOLYTIC ANEMIA DUE TO GCLC - HIS370LEU 436 458 ALA THR ANGIOEDEMA - HEREDITARY - TYPE II C1NH - ALA436THR 444 466 ARG HIS ANGIOEDEMA - HEREDITARY - TYPE II C1NH - ARG444HIS 444 466 ARG CYS ANGIOEDEMA - HEREDITARY - TYPE II C1NH - ARG444CYS 444 466 ARG SER ANGIOEDEMA - HEREDITARY - TYPE II C1NH - ARG444SER 432 454 VAL GLU ANGIOEDEMA - HEREDITARY - TYPE II C1NH - VAL432GLU 443 465 ALA VAL COMPLEMENT COMPONENT 4 - PARTIAL DEFICIENCY OF - DUE TO DYSFUNCTIONAL C1 INHIBITOR C1NH - ALA443VAL 482 482 GLU LYS TAY-SACHS DISEASE HEXA - GLU482LYS 178 178 ARG HIS TAY-SACHS DISEASE - B1 VARIANT HEXA - DN ALLELE HEXA - ARG178HIS 178 178 ARG CYS TAY-SACHS DISEASE - B1 VARIANT HEXA - CZECHOSLOVAKIAN ALLELE HEXA - ARG178CYS 269 269 GLY SER GM2-GANGLIOSIDOSIS - ADULT HEXA - GLY269SER 504 504 ARG HIS GM2-GANGLIOSIDOSIS - JUVENILE HEXA - ARG504HIS 499 499 ARG HIS GM2-GANGLIOSIDOSIS - JUVENILE HEXA - ARG499HIS 170 170 ARG GLN TAY-SACHS DISEASE HEXA - ARG170GLN 420 420 TRP CYS TAY-SACHS DISEASE HEXA - TRP420CYS 250 250 GLY ASP TAY-SACHS DISEASE - JUVENILE HEXA - GLY250ASP 504 504 ARG CYS GM2-GANGLIOSIDOSIS - CHRONIC HEXA - ARG504CYS 210 210 SER PHE TAY-SACHS DISEASE HEXA - SER210PHE 178 178 ARG LEU TAY-SACHS DISEASE HEXA - ARG178LEU 1 1 MET VAL TAY-SACHS DISEASE HEXA - MET1VAL 499 499 ARG CYS GM2-GANGLIOSIDOSIS - ADULT-ONSET HEXA - ARG499CYS 485 485 TRP ARG TAY-SACHS DISEASE HEXA - TRP485ARG 247 247 ARG TRP BETA-HEXOSAMINIDASE A - PSEUDODEFICIENCY OF HEXA - ARG247TRP 200 200 VAL MET TAY-SACHS DISEASE - B1 VARIANT HEXA - VAL192LEU AND VAL200MET 192 192 VAL LEU TAY-SACHS DISEASE - B1 VARIANT HEXA - VAL192LEU AND VAL200MET 258 258 ASP HIS TAY-SACHS DISEASE - B1 VARIANT HEXA - ASP258HIS 170 170 ARG TRP TAY-SACHS DISEASE HEXA - ARG170TRP 197 197 LYS THR GM2-GANGLIOSIDOSIS - LATE ONSET HEXA - LYS197THR 211 211 PHE SER TAY-SACHS DISEASE HEXA - PHE211SER 127 127 LEU ARG TAY-SACHS DISEASE HEXA - LEU127ARG 204 204 HIS ARG TAY-SACHS DISEASE HEXA - HIS204ARG 301 301 MET ARG TAY-SACHS DISEASE HEXA - MET301ARG 454 454 GLY SER TAY-SACHS DISEASE HEXA - GLY454SER 39 39 LEU ARG TAY-SACHS DISEASE HEXA - LEU39ARG 805 805 GLY ALA GM2-GANGLIOSIDOSIS - LATE ONSET HEXA - GLY805ALA 180 180 TYR HIS GM2-GANGLIOSIDOSIS - LATE ONSET HEXA - TYR180HIS 474 474 TRP CYS GM2-GANGLIOSIDOSIS - SUBACUTE HEXA - TRP474CYS 451 451 LEU VAL TAY-SACHS DISEASE HEXA - LEU451VAL 324 324 VAL VAL GM2-GANGLIOSIDOSIS - SUBACUTE HEXA - VAL324VAL 456 456 TYR SER SANDHOFF DISEASE - JUVENILE TYPE HEXB - TYR456SER 417 417 PRO LEU SANDHOFF DISEASE - JUVENILE TYPE HEXB - PRO417LEU 121 121 LYS ARG HEXB POLYMORPHISM HEXB - LYS121ARG 505 505 ARG GLN SANDHOFF DISEASE - ADULT TYPE HEXB - ARG505GLN 405 405 PRO LEU SANDHOFF DISEASE - ADULT TYPE HEXB - PRO405LEU 543 543 ALA THR HEXOSAMINIDASE B - HEAT-LABILE POLYMORPHISM HEXB - ALA543THR 62 62 SER LEU SANDHOFF DISEASE - INFANTILE TYPE HEXB - SER62LEU 504 504 PRO SER SANDHOFF DISEASE - CHRONIC HEXB - PRO504SER 490 490 VAL MET PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY PHGDH - VAL490MET 425 425 VAL MET PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY PHGDH - VAL425MET 135 135 ARG TRP PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY PHGDH - ARG135TRP 377 377 GLY SER PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY PHGDH - GLY377SER 261 261 VAL MET PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY PHGDH - VAL261MET 714 714 HIS GLN WILSON DISEASE ATP7B - HIS714GLN 915 915 ASN SER WILSON DISEASE ATP7B - ASN915SER 1069 1069 HIS GLN WILSON DISEASE ATP7B - HIS1069GLN 1267 1267 GLY ARG WILSON DISEASE ATP7B - GLY1267ARG 778 778 ARG LEU WILSON DISEASE ATP7B - ARG778LEU 765 765 ASP ASN WILSON DISEASE ATP7B - ASP765ASN 943 943 GLY SER WILSON DISEASE ATP7B - GLY943SER 919 919 ARG GLY WILSON DISEASE ATP7B - ARG919GLY 874 874 ALA VAL WILSON DISEASE ATP7B - ALA874VAL 1270 1270 ASN SER WILSON DISEASE ATP7B - ASN1270SER 969 969 ARG GLN WILSON DISEASE ATP7B - ARG969GLN 766 766 THR ARG WILSON DISEASE ATP7B - THR766ARG 645 645 MET ARG WILSON DISEASE ATP7B - MET645ARG 1176 1176 GLY ARG WILSON DISEASE ATP7B - ILE1148THR AND GLY1176ARG 1148 1148 ILE THR WILSON DISEASE ATP7B - ILE1148THR AND GLY1176ARG 708 708 LEU PRO WILSON DISEASE ATP7B - LEU708PRO 691 691 GLY ARG WILSON DISEASE ATP7B - GLY691ARG 12 12 ARG CYS IRAK4 DEFICIENCY IRAK4 - ARG12CYS 46 46 ARG TRP SCAD DEFICIENCY ACADS - ARG46TRP 107 107 ARG CYS SCAD DEFICIENCY ACADS - ARG107CYS 68 92 GLY CYS SCAD DEFICIENCY ACADS - GLY68CYS 153 177 TRP ARG SCAD DEFICIENCY ACADS - TRP153ARG 359 383 ARG CYS SCAD DEFICIENCY ACADS - ARG359CYS 147 171 ARG TRP SCAD DEFICIENCY ACADS - ARG147TRP 185 209 GLY SER SCAD DEFICIENCY ACADS - GLY185SER 66 90 GLY SER SCAD DEFICIENCY ACADS - GLY66SER 168 192 ALA VAL SCAD DEFICIENCY ACADS - ALA168VAL 301 325 ARG TRP SCAD DEFICIENCY ACADS - ARG301TRP 329 353 SER LEU SCAD DEFICIENCY ACADS - SER329LEU 356 380 ARG TRP SCAD DEFICIENCY ACADS - ARG356TRP 160 217 ARG GLN SULFITE OXIDASE DEFICIENCY - ISOLATED SUOX - ARG160GLN 208 265 ALA ASP SULFITE OXIDASE DEFICIENCY - ISOLATED SUOX - ALA208ASP 370 427 SER TYR SULFITE OXIDASE DEFICIENCY - ISOLATED SUOX - SER370TYR 473 530 GLY ASP SULFITE OXIDASE DEFICIENCY - ISOLATED SUOX - GLY473ASP 1563 1563 ARG HIS CHEDIAK-HIGASHI SYNDROME - ADULT TYPE LYST - ARG1563HIS 1999 1999 VAL ASP CHEDIAK-HIGASHI SYNDROME - ADULT TYPE LYST - VAL1999ASP 81 81 PRO LEU ALBINISM - OCULOCUTANEOUS - TYPE IA ALBINISM - OCULOCUTANEOUS - TYPE IB - INCLUDED TYR - PRO81LEU 355 355 THR LYS ALBINISM - OCULOCUTANEOUS - TYPE IA TYR - THR355LYS 365 365 ASP ASN ALBINISM - OCULOCUTANEOUS - TYPE IA TYR - ASP365ASN 77 77 ARG GLN ALBINISM - OCULOCUTANEOUS - TYPE IA TYR - ARG77GLN 406 406 PRO LEU ALBINISM - OCULOCUTANEOUS - TYPE IB TYR - PRO406LEU 275 275 VAL PHE ALBINISM - OCULOCUTANEOUS - TYPE IB TYR - VAL275PHE 192 192 SER TYR SKIN/HAIR/EYE PIGMENTATION 3 - LIGHT/DARK SKIN SKIN/HAIR/EYE PIGMENTATION 3 - FRECKLING - INCLUDED TYR - SER192TYR - (dbSNP rs1042602) 402 402 ARG GLN ALBINISM - OCULOCUTANEOUS - TYPE IB WAARDENBURG SYNDROME 2 AND OCULAR ALBINISM - DIGENIC - INCLUDED;; ALBINISM - OCULOCUTANEOUS TYPE I - TEMPERATURE-SENSITIVE - INCLUDED;; MELANOMA - CUTANEOUS MALIGNANT - SUSCEPTIBILITY TO - 8 - INCLUDED;; SKIN/HAIR/EYE PIGMENTATION 3 - LIGHT/DARK SKIN - INCLUDED;; SKIN/HAIR/EYE PIGMENTATION 3 - BLUE/GREEN EYES - INCLUDED TYR - ARG402GLN - (dbSNP rs1126809) 59 59 ARG GLN ALBINISM - OCULOCUTANEOUS - TYPE IA TYR - ARG59GLN 89 89 CYS ARG ALBINISM - OCULOCUTANEOUS - TYPE IA TYR - CYS89ARG 422 422 ARG GLN ALBINISM - OCULOCUTANEOUS TYPE I - TEMPERATURE-SENSITIVE TYR - ARG422GLN 191 191 GLY ASP ALBINISM - OCULOCUTANEOUS - TYPE IA TYR - GLY191ASP 382 382 ASN LYS ALBINISM - OCULOCUTANEOUS - TYPE IA TYR - ASN382LYS 96 96 MET ASN ALBINISM - OCULOCUTANEOUS - TYPE IA TYR - MET96ASN 42 42 ASP GLY ALBINISM - OCULOCUTANEOUS - TYPE IA TYR - ASP42GLY 55 55 CYS TYR ALBINISM - OCULOCUTANEOUS - TYPE IA TYR - CYS55TYR 206 206 ALA THR ALBINISM - OCULOCUTANEOUS - TYPE IA TYR - ALA206THR 419 419 GLY ARG ALBINISM - OCULOCUTANEOUS - TYPE IA TYR - GLY419ARG 21 21 PRO SER ALBINISM - OCULOCUTANEOUS - TYPE IA TYR - PRO21SER 47 47 GLY ASP ALBINISM - OCULOCUTANEOUS - TYPE IA ALBINISM - OCULOCUTANEOUS - TYPE IB - INCLUDED TYR - GLY47ASP 217 217 ARG TRP ALBINISM - OCULOCUTANEOUS - TYPE IA TYR - ARG217TRP 299 299 ARG HIS ALBINISM - OCULOCUTANEOUS - TYPE IA TYR - ARG299HIS 371 371 ASN THR ALBINISM - OCULOCUTANEOUS - TYPE IA TYR - ASN371THR 403 403 ARG SER ALBINISM - OCULOCUTANEOUS - TYPE IA TYR - ARG403SER 446 446 GLY SER ALBINISM - OCULOCUTANEOUS - TYPE IA TYR - GLY446SER 448 448 ASP ASN ALBINISM - OCULOCUTANEOUS - TYPE IA TYR - ASP448ASN 216 216 LEU MET ALBINISM - OCULOCUTANEOUS - TYPE IA TYR - LEU216MET 1 1 MET VAL ALBINISM - OCULOCUTANEOUS - TYPE IB TYR - MET1VAL 7 7 GLU LYS PROGRESSIVE FAMILIAL HEART BLOCK - TYPE IB TRPM4 - GLU7LYS 73 73 CYS ARG PORPHYRIA - CONGENITAL ERYTHROPOIETIC UROS - CYS73ARG 53 53 PRO LEU PORPHYRIA - CONGENITAL ERYTHROPOIETIC UROS - PRO53LEU 66 66 ALA VAL PORPHYRIA - CONGENITAL ERYTHROPOIETIC UROS - ALA66VAL 62 62 THR ALA PORPHYRIA - CONGENITAL ERYTHROPOIETIC UROS - THR62ALA 228 228 THR MET PORPHYRIA - CONGENITAL ERYTHROPOIETIC UROS - THR228MET 4 4 LEU PHE PORPHYRIA - CONGENITAL ERYTHROPOIETIC UROS - LEU4PHE 82 82 VAL PHE PORPHYRIA - CONGENITAL ERYTHROPOIETIC UROS - VAL82PHE 188 188 GLY ARG PORPHYRIA - CONGENITAL ERYTHROPOIETIC UROS - GLY188ARG 81 81 GLU ASP PORPHYRIA - CONGENITAL ERYTHROPOIETIC UROS - GLU81ASP 188 188 GLY TRP PORPHYRIA - CONGENITAL ERYTHROPOIETIC UROS - GLY188TRP 225 225 GLY SER PORPHYRIA - CONGENITAL ERYTHROPOIETIC UROS - GLY225SER 248 248 PRO GLN PORPHYRIA - CONGENITAL ERYTHROPOIETIC UROS - PRO248GLN 523 445 GLU LYS CONGENITAL DISORDER OF GLYCOSYLATION - TYPE Il ALG9 - GLU523LYS 286 208 TYR CYS CONGENITAL DISORDER OF GLYCOSYLATION - TYPE Il ALG9 - TYR286CYS 66 87 TRP GLY FH FRENCH CANADIAN 4 LDLR - TRP66GLY 156 177 SER LEU FH PUERTO RICO LDLR - SER156LEU 206 227 ASP GLU FH AFRIKANER 1 FH MAINE LDLR - ASP206GLU 207 228 GLU LYS FH MEXICO FH FRENCH CANADIAN 3 LDLR - GLU207LYS 283 304 ASP ASN FH DENVER 2 LDLR - ASP283ASN 408 429 VAL MET FH AFRIKANER 2 LDLR - VAL408MET 410 431 ALA THR FH ALGERIA LDLR - ALA410THR 502 523 VAL MET FH KUWAIT LDLR - VAL502MET 525 546 GLY ASP FH SAINT OMER LDLR - GLY525ASP 528 549 GLY ASP FH GENOA LDLR - GLY528ASP 544 565 GLY VAL FH NAPLES LDLR - GLY544VAL 646 667 CYS TYR FH FRENCH CANADIAN 2 LDLR - CYS646TYR 664 685 PRO LEU FH ZAMBIA LDLR - PRO664LEU 807 828 TYR CYS FH BARI FH SYRIA LDLR - TYR807CYS 154 175 ASP ASN FH AFRIKANER 3 LDLR - ASP154ASN 412 433 ASP HIS FH OSAKA 3 LDLR - ASP412HIS 823 844 GLY ASP FH TURKU LDLR - GLY823ASP 380 401 LEU HIS FH PORI LDLR - LEU380HIS 543 564 ASN HIS FH AARHUS LDLR - ASN543HIS AND 9-BP DEL 163 184 CYS TYR FH GLASCO LDLR - CYS163TYR 240 261 CYS PHE HYPERCHOLESTEROLEMIA - FAMILIAL LDLR - CYS240PHE 25 46 CYS SER HYPERCHOLESTEROLEMIA - FAMILIAL LDLR - CYS25SER 88 109 CYS SER HYPERCHOLESTEROLEMIA - FAMILIAL LDLR - CYS88SER 385 406 ARG ARG HYPERCHOLESTEROLEMIA - AUTOSOMAL DOMINANT LDLR - ARG385ARG 186 207 GLY GLY HYPERCHOLESTEROLEMIA - AUTOSOMAL DOMINANT LDLR - GLY186GLY 183 183 LEU PRO GALACTOSE EPIMERASE DEFICIENCY GALE - LEU183PRO 34 34 ASN SER GALACTOSE EPIMERASE DEFICIENCY GALE - ASN34SER 90 90 GLY GLU GALACTOSE EPIMERASE DEFICIENCY GALE - GLY90GLU 103 103 ASP GLY GALACTOSE EPIMERASE DEFICIENCY GALE - ASP103GLY 257 257 LYS ARG GALACTOSE EPIMERASE DEFICIENCY GALE - LYS257ARG 313 313 LEU MET GALACTOSE EPIMERASE DEFICIENCY GALE - LEU313MET 319 319 GLY GLU GALACTOSE EPIMERASE DEFICIENCY GALE - GLY319GLU 94 94 VAL MET GALACTOSE EPIMERASE DEFICIENCY - SEVERE GALE - VAL94MET 147 147 TRP ARG LCAT DEFICIENCY LCAT - TRP147ARG 293 317 MET ILE LCAT DEFICIENCY LCAT - MET293ILE 228 252 ASN LYS LCAT DEFICIENCY LCAT - ASN228LYS 123 123 ILE THR FISH-EYE DISEASE LCAT - ILE123THR 10 34 PRO LEU FISH-EYE DISEASE LCAT - PRO10LEU 123 147 THR ILE FISH-EYE DISEASE LCAT - THR123ILE 347 371 THR MET FISH-EYE DISEASE LCAT - THR347MET 252 276 MET LYS LCAT DEFICIENCY LCAT - MET252LYS 209 233 LEU PRO LCAT DEFICIENCY LCAT - LEU209PRO 158 182 ARG CYS LCAT DEFICIENCY LCAT - ALA93THR AND ARG158CYS 93 117 ALA THR LCAT DEFICIENCY LCAT - ALA93THR AND ARG158CYS 135 159 ARG TRP LCAT DEFICIENCY LCAT - ARG135TRP 376 400 GLN THR LCAT DEFICIENCY LCAT - 1-BP INS - GLN376THR - FS 321 345 THR MET LCAT DEFICIENCY LCAT - THR321MET 131 155 ASN ASP FISH-EYE DISEASE LCAT - ASN131ASP 729 729 ARG TRP CONGENITAL DISORDER OF GLYCOSYLATION - TYPE IIj COG4 - ARG729TRP 551 551 GLU LYS COENZYME Q10 DEFICIENCY CABC1 - GLU551LYS 213 213 ARG TRP COENZYME Q10 DEFICIENCY CABC1 - ARG213TRP 272 272 GLY VAL COENZYME Q10 DEFICIENCY CABC1 - GLY272VAL 272 272 GLY ASP COENZYME Q10 DEFICIENCY CABC1 - GLY272ASP 514 514 TYR CYS SPINOCEREBELLAR ATAXIA - AUTOSOMAL RECESSIVE 9 CABC1 - TYR514CYS 549 549 GLY SER SPINOCEREBELLAR ATAXIA - AUTOSOMAL RECESSIVE 9 CABC1 - GLY549SER 569 569 ARG TRP MYELOPEROXIDASE DEFICIENCY MPO - ARG569TRP 173 173 TYR CYS MYELOPEROXIDASE DEFICIENCY MPO - TYR173CYS 251 251 MET THR MYELOPEROXIDASE DEFICIENCY MPO - MET251THR 332 332 ALA VAL MYELOPEROXIDASE DEFICIENCY MPO - ALA332VAL 572 572 LEU TRP MYELOPEROXIDASE DEFICIENCY MPO - LEU572TRP 501 501 GLY SER MYELOPEROXIDASE DEFICIENCY MPO - GLY501SER 499 499 ARG CYS MYELOPEROXIDASE DEFICIENCY MPO - ARG499CYS 142 142 MET LYS GALACTOSEMIA GALT - MET142LYS 333 333 ARG TRP GALACTOSEMIA GALT - ARG333TRP 44 44 VAL MET GALACTOSEMIA GALT - VAL44MET 62 62 LEU MET GALT POLYMORPHISM GALT - LEU62MET 314 314 ASN ASP GALT POLYMORPHISM (DUARTE - D2) GALT - ASN314ASP 188 188 GLN ARG GALACTOSEMIA GALT - GLN188ARG 74 74 LEU PRO GALACTOSEMIA GALT - LEU74PRO 171 171 PHE SER GALACTOSEMIA GALT - PHE171SER 319 319 HIS GLN GALACTOSEMIA GALT - HIS319GLN 135 135 SER LEU GALACTOSEMIA GALT - SER135LEU 183 183 PRO THR GALACTOSEMIA GALT - PRO183THR 314 314 ASN ASP GALT POLYMORPHISM (LOS ANGELES - D1) GALT - LEU218LEU AND ASN314ASP 218 218 LEU LEU GALT POLYMORPHISM (LOS ANGELES - D1) GALT - LEU218LEU AND ASN314ASP 285 285 LYS ASN GALACTOSEMIA GALT - LYS285ASN 203 203 GLU LYS GALACTOSEMIA GALT - GLU203LYS 333 333 ARG GLY GALACTOSEMIA GALT - ARG333GLY 194 194 PHE LEU GALACTOSEMIA GALT - PHE194LEU 1042 1042 CYS TYR KLEEFSTRA SYNDROME EHMT1 - CYS1042TYR 32 32 GLY ARG KALLMANN SYNDROME 4 PROK2 - GLY32ARG 73 73 ARG CYS KALLMANN SYNDROME 4 PROK2 - ARG73CYS 304 329 LYS GLU MCAD DEFICIENCY ACADM - LYS304GLU 267 267 GLY ARG MCAD DEFICIENCY ACADM - GLY267ARG 375 375 ILE THR MCAD DEFICIENCY ACADM - ILE375THR 244 244 CYS ARG MCAD DEFICIENCY ACADM - CYS244ARG 149 149 MET ILE MCAD DEFICIENCY ACADM - MET149ILE 170 195 GLY ARG MCAD DEFICIENCY ACADM - GLY170ARG 168 193 THR ALA MCAD DEFICIENCY ACADM - THR168ALA 42 67 TYR HIS MCAD DEFICIENCY ACADM - TYR42HIS 220 245 SER LEU MCAD DEFICIENCY ACADM - SER220LEU 256 281 ARG THR MCAD DEFICIENCY ACADM - ARG256THR 96 121 THR ILE MCAD DEFICIENCY ACADM - THR96ILE 141 141 SER LEU HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA TRPM6 - SER141LEU 15 15 PRO LEU MEDULLOBLASTOMA - SOMATIC SUFU - PRO15LEU 13 42 LEU PRO ISOVALERIC ACIDEMIA - TYPE I IVD - LEU13PRO 170 199 GLY VAL ISOVALERIC ACIDEMIA - TYPE I IVD - GLY170VAL 21 50 ARG CYS ISOVALERIC ACIDEMIA IVD - ARG21CYS 282 311 ALA VAL ISOVALERIC ACIDEMIA IVD - ALA282VAL 180 180 GLY ARG APOCRINE GLAND SECRETION - VARIATION IN EAR WAX - WET/DRY - INCLUDED;; AXILLARY ODOR - INCLUDED;; COLOSTRUM SECRETION - INCLUDED ABCC11 - GLY180ARG 295 295 GLU LYS CEROID LIPOFUSCINOSIS - NEURONAL - 3 - PROTRACTED CLN3 - GLU295LYS 124 124 PHE LEU MACULOPATHY - IMPG2-RELATED IMPG2 - PHE124LEU 200 200 PRO LEU ACRODERMATITIS ENTEROPATHICA SLC39A4 - PRO200LEU 526 526 GLY ARG ACRODERMATITIS ENTEROPATHICA SLC39A4 - GLY526ARG 374 374 GLY ARG ACRODERMATITIS ENTEROPATHICA SLC39A4 - GLY374ARG 106 106 ASN LYS ACRODERMATITIS ENTEROPATHICA SLC39A4 - ASN106LYS 330 330 GLY ASP ACRODERMATITIS ENTEROPATHICA SLC39A4 - GLY330ASP 95 95 ARG CYS ACRODERMATITIS ENTEROPATHICA SLC39A4 - ARG95CYS 303 303 GLN HIS ACRODERMATITIS ENTEROPATHICA SLC39A4 - GLN303HIS 268 268 GLU LYS MUCOPOLYSACCHARIDOSIS TYPE IX HYAL1 - GLU268LYS 158 158 ARG GLN HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY MTHFR - ARG158GLN 222 222 ALA VAL MTHFR THERMOLABILE POLYMORPHISM MTHFR - 677C-T - ALA222VAL (dbSNP rs1801133) 429 429 GLU ALA MTHFR THERMOLABILE POLYMORPHISM SCHIZOPHRENIA - SUSCEPTIBILITY TO - INCLUDED MTHFR - 1298A-C - GLU429ALA (dbSNP rs1801131) 324 324 ASN SER HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY MTHFR - 983A-G - ASN324SER 339 339 TRP GLY HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY MTHFR - 1027T-G - TRP339GLY 581 581 MET ILE HOMOCYSTEINURIA DUE TO MTHFR DEFICIENCY MTHFR - MET581ILE (dbSNP rs45590836) 377 377 ARG CYS HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY MTHFR - ARG377CYS 323 323 LEU PRO HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY MTHFR - LEU323PRO 217 217 THR MET HYPOURICEMIA - RENAL - 1 SLC22A12 - THR217MET 298 298 GLU ASP HYPOURICEMIA - RENAL - 1 SLC22A12 - GLU298ASP 418 418 LEU ARG HYPOURICEMIA - RENAL - 1 SLC22A12 - LEU418ARG 90 90 ARG HIS HYPOURICEMIA - RENAL - 1 SLC22A12 - ARG90HIS 361 361 GLY VAL HYPOURICEMIA - RENAL - 1 SLC22A12 - GLY361VAL 343 342 GLY ARG NEPHRONOPHTHISIS 1 NPHP1 - GLY343ARG 394 394 ARG TRP DENYS-DRASH SYNDROME MEACHAM SYNDROME - INCLUDED;; NEPHROTIC SYNDROME TYPE 4 - INCLUDED WT1 - ARG394TRP 366 366 ARG HIS DENYS-DRASH SYNDROME WT1 - ARG366HIS 396 396 ASP GLY DENYS-DRASH SYNDROME WT1 - ASP396GLY 396 396 ASP ASN DENYS-DRASH SYNDROME NEPHROTIC SYNDROME - TYPE 4 - INCLUDED WT1 - ASP396ASN 394 394 ARG PRO DENYS-DRASH SYNDROME WT1 - ARG394PRO 330 330 CYS TYR DENYS-DRASH SYNDROME WT1 - CYS330TYR 377 377 HIS TYR DENYS-DRASH SYNDROME NEPHROTIC SYNDROME - TYPE 4 - INCLUDED WT1 - HIS377TYR 360 360 CYS GLY DENYS-DRASH SYNDROME WT1 - CYS360GLY 373 373 HIS GLN DENYS-DRASH SYNDROME WT1 - HIS373GLN 273 273 SER GLY MESOTHELIOMA - SOMATIC WT1 - SER273GLY 383 383 PHE LEU NEPHROTIC SYNDROME - TYPE 4 WT1 - PHE383LEU 392 392 PHE LEU FRASIER SYNDROME WT1 - PHE392LEU 366 366 ARG CYS MEACHAM SYNDROME WT1 - ARG366CYS 26 26 ARG GLY PETERS ANOMALY ANIRIDIA - INCLUDED PAX6 - ARG26GLY 125 125 ARG CYS FOVEAL HYPOPLASIA - ISOLATED PAX6 - ARG125CYS 126 126 VAL ASP ANIRIDIA - ATYPICAL PAX6 - VAL126ASP 64 64 GLY VAL FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROME PAX6 - GLY64VAL 54 54 VAL ASP PETERS ANOMALY CATARACT - AUTOSOMAL DOMINANT - INCLUDED;; FOVEAL HYPOPLASIA - INCLUDED;; FOVEAL HYPOPLASIA WITH ANTERIOR SEGMENT ANOMALIES - INCLUDED PAX6 - VAL54ASP 68 68 PRO SER MORNING GLORY DISC ANOMALY PAX6 - PRO68SER 258 258 PHE SER COLOBOMA OF OPTIC NERVE COLOBOMA - OCULAR - INCLUDED PAX6 - PHE258SER 391 391 THR ALA OPTIC NERVE APLASIA - BILATERAL PAX6 - THR391ALA 24 24 ARG THR ANIRIDIA PAX6 - ARG24THR 119 119 SER ARG ANIRIDIA PAX6 - SER119ARG 173 173 LEU ARG KALLMANN SYNDROME 3 PROKR2 - LEU173ARG 210 210 GLN ARG KALLMANN SYNDROME 3 PROKR2 - GLN210ARG 85 85 ARG HIS KALLMANN SYNDROME 3 PROKR2 - ARG85HIS 323 323 MET ILE KALLMANN SYNDROME 3 PROKR2 - MET323ILE 142 142 PHE VAL CONGENITAL DISORDER OF GLYCOSYLATION - TYPE Ig ALG12 - PHE142VAL 61 61 THR MET CONGENITAL DISORDER OF GLYCOSYLATION - TYPE Ig ALG12 - THR61MET 146 146 ARG GLN CONGENITAL DISORDER OF GLYCOSYLATION - TYPE Ig ALG12 - ARG146GLN 101 101 GLY ARG CONGENITAL DISORDER OF GLYCOSYLATION - TYPE Ig ALG12 - GLY101ARG 158 158 LEU PRO CONGENITAL DISORDER OF GLYCOSYLATION - TYPE Ig ALG12 - LEU158PRO 329 329 ARG CYS ATRIOVENTRICULAR SEPTAL DEFECT - SUSCEPTIBILITY TO - 2 CRELD1 - ARG329CYS 311 311 THR ILE ATRIOVENTRICULAR SEPTAL DEFECT - SUSCEPTIBILITY TO - 2 CRELD1 - THR311ILE 107 107 ARG HIS ATRIOVENTRICULAR SEPTAL DEFECT - PARTIAL - WITH HETEROTAXY SYNDROME CRELD1 - ARG107HIS 162 162 PRO ALA ATRIOVENTRICULAR SEPTAL DEFECT - SUSCEPTIBILITY TO - 2 CRELD1 - PRO162ALA 414 414 GLU LYS ATRIOVENTRICULAR SEPTAL DEFECT - SUSCEPTIBILITY TO - 2 CRELD1 - GLU414LYS 493 493 HIS ARG SPINOCEREBELLAR ATAXIA - AUTOSOMAL RECESSIVE - WITH AXONAL NEUROPATHY TDP1 - HIS493ARG 84 84 ARG CYS POPLITEAL PTERYGIUM SYNDROME IRF6 - ARG84CYS 84 84 ARG HIS POPLITEAL PTERYGIUM SYNDROME IRF6 - ARG84HIS 2 2 ALA VAL VAN DER WOUDE SYNDROME IRF6 - ALA2VAL 6 6 ARG CYS VAN DER WOUDE SYNDROME IRF6 - ARG6CYS 400 400 ARG TRP VAN DER WOUDE SYNDROME IRF6 - ARG400TRP 45 45 ARG GLN VAN DER WOUDE SYNDROME IRF6 - ARG45GLN 396 396 PRO SER VAN DER WOUDE SYNDROME IRF6 - PRO396SER 339 339 ARG ILE VAN DER WOUDE SYNDROME-POPLITEAL PTERYGIUM SYNDROME IRF6 - ARG339ILE 500 500 VAL PHE ICHTHYOSIFORM ERYTHRODERMA - CONGENITAL - NONBULLOUS - 1 ALOXE3 - VAL500PHE 396 396 ARG SER ICHTHYOSIFORM ERYTHRODERMA - CONGENITAL - NONBULLOUS - 1 ALOXE3 - ARG396SER 237 237 LEU MET ICHTHYOSIFORM ERYTHRODERMA - CONGENITAL - NONBULLOUS - 1 ALOXE3 - LEU237MET 991 991 PHE SER NEPHRONOPHTHISIS 4 NPHP4 - PHE991SER 81 81 ARG CYS DEAFNESS - AUTOSOMAL RECESSIVE 6 TMIE - ARG81CYS 84 84 ARG TRP DEAFNESS - AUTOSOMAL RECESSIVE 6 TMIE - ARG84TRP 92 92 ARG TRP DEAFNESS - AUTOSOMAL RECESSIVE 6 TMIE - ARG92TRP 283 365 ILE ARG ELLIS-VAN CREVELD SYNDROME EVC2 - ILE283ARG 870 952 ARG TRP ELLIS-VAN CREVELD SYNDROME EVC2 - ARG870TRP 79 79 SER TRP COLORECTAL CANCER - SOMATIC FLCN - SER79TRP 445 445 ALA THR COLORECTAL CANCER - SOMATIC FLCN - ALA445THR 345 345 ASP HIS RETINITIS PIGMENTOSA 35 CONE-ROD DYSTROPHY 10 - INCLUDED SEMA4A - ASP345HIS 350 350 PHE CYS RETINITIS PIGMENTOSA 35 CONE-ROD DYSTROPHY 10 - INCLUDED SEMA4A - PHE350CYS 713 713 ARG GLN RETINITIS PIGMENTOSA 35 SEMA4A - ARG713GLN 2309 2309 HIS ARG RETINITIS PIGMENTOSA 13 PRPF8 - HIS2309ARG 2309 2309 HIS PRO RETINITIS PIGMENTOSA 13 PRPF8 - HIS2309PRO 2310 2310 ARG LYS RETINITIS PIGMENTOSA 13 PRPF8 - ARG2310LYS 2301 2301 PRO THR RETINITIS PIGMENTOSA 13 PRPF8 - PRO2301THR 2304 2304 PHE LEU RETINITIS PIGMENTOSA 13 PRPF8 - PHE2304LEU 494 494 THR MET RETINITIS PIGMENTOSA 18 PRPF3 - THR494MET 493 493 PRO SER RETINITIS PIGMENTOSA 18 PRPF3 - PRO493SER 489 489 ALA ASP RETINITIS PIGMENTOSA 18 PRPF3 - ALA489ASP 246 246 ARG TRP PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS SRD5A2 - ARG246TRP 55 55 LEU GLN PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS SRD5A2 - LEU55GLN 115 115 GLY ASP PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS SRD5A2 - GLY115ASP 183 183 GLY SER PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS SRD5A2 - GLY183SER 228 228 ALA THR PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS SRD5A2 - ALA228THR 196 196 GLY SER PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS SRD5A2 - GLY196SER 231 231 HIS ARG PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS SRD5A2 - HIS231ARG 49 49 ALA THR STEROID 5-ALPHA-REDUCTASE POLYMORPHISM SRD5A2 - ALA49THR 212 212 PRO ARG PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS SRD5A2 - PRO212ARG 197 197 GLU ASP PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS SRD5A2 - GLU197ASP 227 227 ARG GLN MICROPENIS SRD5A2 - ARG227GLN 137 137 HIS LEU RETINITIS PIGMENTOSA 9 RP9 - HIS137LEU 170 170 ASP GLY RETINITIS PIGMENTOSA 9 RP9 - ASP170GLY 888 888 HIS ARG DUANE-RADIAL RAY SYNDROME SALL4 - HIS888ARG 83 83 LYS GLU AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME - TYPE I AIRE - LYS83GLU 228 228 GLY TRP AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME - TYPE I - AUTOSOMAL DOMINANT AIRE - GLY228TRP 1 1 MET LEU AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME - TYPE I AIRE - MET1LEU 80 80 VAL GLY AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME - TYPE I AIRE - VAL80GLY 108 108 TRP ARG WOOLLY HAIR - AUTOSOMAL RECESSIVE 2 - WITH OR WITHOUT HYPOTRICHOSIS LIPH - TRP108ARG 360 360 LEU PRO NEUROFIBROMATOSIS - TYPE II NF2 - LEU360PRO 535 535 LEU PRO NEUROFIBROMATOSIS - TYPE II NF2 - LEU535PRO 538 538 GLN PRO NEUROFIBROMATOSIS - TYPE II NF2 - GLN538PRO 62 62 PHE SER NEUROFIBROMATOSIS - TYPE II NF2 - PHE62SER 1 1 MET ILE HYPERPARATHYROIDISM-JAW TUMOR SYNDROME CDC73 - MET1ILE 64 64 LEU PRO HYPERPARATHYROIDISM - FAMILIAL ISOLATED PRIMARY CDC73 - LEU64PRO 74 74 SER ILE GLUCOCORTICOID DEFICIENCY 1 MC2R - SER74ILE 120 120 SER ARG GLUCOCORTICOID DEFICIENCY 1 MC2R - SER120ARG 128 128 ARG CYS GLUCOCORTICOID DEFICIENCY 1 MC2R - ARG128CYS 107 107 ASP ASN GLUCOCORTICOID DEFICIENCY 1 MC2R - ASP107ASN 251 251 CYS PHE GLUCOCORTICOID DEFICIENCY 1 MC2R - CYS251PHE 137 137 ARG TRP GLUCOCORTICOID DEFICIENCY 1 MC2R - ARG137TRP 254 254 TYR CYS GLUCOCORTICOID DEFICIENCY 1 MC2R - TYR254CYS 126 126 ALA SER GLUCOCORTICOID DEFICIENCY 1 MC2R - ALA126SER 76 76 GLY ARG MUSCULAR DYSTROPHY-DYSTROGLYCANOPTHY (CONGENITAL WITH EYE AND BRAIN ANOMALIES) - TYPE A - 1 POMT1 - GLY76ARG 200 200 ALA PRO MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE) - TYPE C - 1 POMT1 - ALA200PRO 65 65 GLY ARG MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION) - TYPE B - 1 POMT1 - GLY65ARG 582 582 TRP CYS MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION) - TYPE B - 1 POMT1 - TRP582CYS 590 590 GLN HIS MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION) - TYPE B - 1 POMT1 - GLN590HIS 65 65 GLY ARG MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION) - TYPE B - 1 POMT1 - GLY65ARG 590 590 GLN HIS MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION) - TYPE B - 1 POMT1 - GLN590HIS 669 669 ALA THR MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION) - TYPE B - 1 POMT1 - ALA669THR 308 308 ASP GLU COENZYME Q10 DEFICIENCY PDSS1 - ASP308GLU 666 666 TYR CYS MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION) - TYPE B - 2 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES) - TYPE A - 2 - INCLUDED POMT2 - TYR666CYS 748 748 TRP ARG MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION) - TYPE B - 2 POMT2 - TRP748ARG 413 413 ARG PRO MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES) - TYPE A - 2 POMT2 - ARG413PRO 373 373 VAL PHE MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES) - TYPE A - 2 POMT2 - VAL373PHE 198 198 ILE ASN MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES) - TYPE A - 2 POMT2 - ILE198ASN 184 184 THR MET MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE) - TYPE C - 2 POMT2 - THR184MET 748 748 TRP SER MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE) - TYPE C - 2 POMT2 - TRP748SER 353 353 GLY SER MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES) - TYPE A - 2 POMT2 - GLY353SER 726 726 GLY GLU MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES) - TYPE A - 2 POMT2 - GLY726GLU 353 353 GLY SER MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION) - TYPE B - 2 POMT2 - GLY353SER 726 726 GLY GLU MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION) - TYPE B - 2 POMT2 - GLY726GLU 246 246 GLY ASP MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION) - TYPE B - 2 POMT2 - GLY246ASP 482 482 GLY VAL MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES) - TYPE A - 2 POMT2 - GLY482VAL 307 307 ARG GLN MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE) - TYPE C - 4 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION) - TYPE B - 4 - INCLUDED FKTN - ARG307GLN 358 358 GLN PRO CARDIOMYOPATHY - DILATED - 1X FKTN - GLN358PRO 179 179 ARG THR CARDIOMYOPATHY - DILATED - 1X FKTN - ARG179THR 125 125 GLY SER WALKER-WARBURG SYNDROME - FKTN-RELATED FKTN - GLY125SER 114 114 ALA THR MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE) - TYPE C - 4 FKTN - ALA114THR 176 176 PHE SER MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE) - TYPE C - 4 FKTN - PHE176SER 170 170 ALA GLU MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES) - TYPE A - 4 FKTN - ALA170GLU 371 371 TYR CYS MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES) - TYPE A - 4 FKTN - TYR371CYS 8 8 ASN LYS SHWACHMAN-DIAMOND SYNDROME SBDS - ASN8LYS 565 565 ARG TRP NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS CIRH1A - ARG565TRP 469 469 ASN TYR DYGGVE-MELCHIOR-CLAUSEN DISEASE DYM - ASN469TYR 87 87 GLU LYS SMITH-MCCORT DYSPLASIA DYM - GLU87LYS 542 542 CYS ARG SMITH-McCORT DYSPLASIA DYM - CYS542ARG 1040 1040 ARG TRP ANEMIA - CONGENITAL DYSERYTHROPOIETIC - TYPE I CDAN1 - ARG1040TRP 1129 1129 PRO LEU ANEMIA - CONGENITAL DYSERYTHROPOIETIC - TYPE I CDAN1 - PRO1129LEU 598 598 ASN SER ANEMIA - CONGENITAL DYSERYTHROPOIETIC - TYPE I CDAN1 - ASN598SER 671 671 PRO LEU ANEMIA - CONGENITAL DYSERYTHROPOIETIC - TYPE I CDAN1 - PRO671LEU 866 866 PHE ILE ANEMIA - CONGENITAL DYSERYTHROPOIETIC - TYPE I CDAN1 - PHE866ILE 230 230 PRO SER ALKAPTONURIA HGD - PRO230SER 300 300 VAL GLY ALKAPTONURIA HGD - VAL300GLY 161 161 GLY ARG ALKAPTONURIA HGD - GLY161ARG 330 330 ARG SER ALKAPTONURIA HGD - ARG330SER 371 371 HIS ARG ALKAPTONURIA HGD - HIS371ARG 368 368 MET VAL ALKAPTONURIA HGD - MET368VAL 270 270 GLY ARG ALKAPTONURIA HGD - GLY270ARG 441 441 ARG HIS UNIPOLAR DEPRESSION - SUSCEPTIBILITY TO TPH2 - ARG441HIS 303 303 ARG TRP ATTENTION DEFICIT-HYPERACTIVITY DISORDER - SUSCEPTIBILITY TO - 7 TPH2 - ARG303TRP 206 206 PRO SER BIPOLAR AFFECTIVE DISORDER - SUSCEPTIBILITY TO TPH2 - PRO206SER 9 9 LEU ARG HYPOTRICHOSIS SIMPLEX APCDD1 - LEU9ARG 207 207 TYR CYS METHYLMALONIC ACIDURIA - cblA TYPE MMAA - TYR207CYS 272 272 THR ILE HERMANSKY-PUDLAK SYNDROME 6 HPS6 - THR272ILE 178 178 ALA PRO LONG QT SYNDROME 1 KCNQ1 - ALA178PRO 189 189 GLY ARG LONG QT SYNDROME 1 KCNQ1 - GLY189ARG 190 190 ARG GLN LONG QT SYNDROME 1 KCNQ1 - ARG190GLN 254 254 VAL MET LONG QT SYNDROME 1 KCNQ1 - VAL254MET 273 273 LEU PHE LONG QT SYNDROME 1 KCNQ1 - LEU273PHE 306 306 GLY ARG LONG QT SYNDROME 1 KCNQ1 - GLY306ARG 312 312 THR ILE LONG QT SYNDROME 1 KCNQ1 - THR312ILE 341 341 ALA GLU LONG QT SYNDROME 1 LONG QT SYNDROME 1/2 - DIGENIC - INCLUDED KCNQ1 - ALA341GLU 341 341 ALA VAL LONG QT SYNDROME 1 KCNQ1 - ALA341VAL 345 345 GLY GLU LONG QT SYNDROME 1 KCNQ1 - GLY345GLU 314 314 GLY SER LONG QT SYNDROME 1 KCNQ1 - GLY314SER 555 555 ARG CYS LONG QT SYNDROME 1 KCNQ1 - ARG555CYS 305 305 TRP SER JERVELL AND LANGE-NIELSEN SYNDROME 1 KCNQ1 - TRP305SER 300 300 ALA THR LONG QT SYNDROME 1 KCNQ1 - ALA300THR 525 525 ALA THR LONG QT SYNDROME 1 - RECESSIVE KCNQ1 - ALA525THR 587 587 THR MET JERVELL AND LANGE-NIELSEN SYNDROME 1 KCNQ1 - THR587MET 589 589 GLY ASP LONG QT SYNDROME 1 JERVELL AND LANGE-NIELSEN SYNDROME 1 - INCLUDED KCNQ1 - GLY589ASP 117 117 PRO LEU LONG QT SYNDROME 1 KCNQ1 - PRO117LEU 583 583 ARG CYS LONG QT SYNDROME 1 LONG QT SYNDROME 1 - ACQUIRED - SUSCEPTIBILITY TO - INCLUDED KCNQ1 - ARG583CYS 140 140 SER GLY ATRIAL FIBRILLATION - FAMILIAL - 3 KCNQ1 - SER140GLY 269 269 GLY SER LONG QT SYNDROME 1 KCNQ1 - GLY269SER 269 269 GLY ASP LONG QT SYNDROME 1 KCNQ1 - GLY269ASP 254 254 VAL MET LONG QT SYNDROME 1 KCNQ1 - VAL254MET AND VAL417MET 417 417 VAL MET LONG QT SYNDROME 1 KCNQ1 - VAL254MET AND VAL417MET 307 307 VAL LEU SHORT QT SYNDROME 2 KCNQ1 - VAL307LEU 243 243 ARG PRO LONG QT SYNDROME 1/2 - DIGENIC KCNQ1 - ARG243PRO 354 354 ALA VAL LEIGH SYNDROME - FRENCH-CANADIAN TYPE LRPPRC - ALA354VAL 211 211 ALA VAL DEAFNESS - AUTOSOMAL DOMINANT 25 SLC17A8 - ALA211VAL 381 381 ARG GLN INFLAMMATORY BOWEL DISEASE 17 - PROTECTION AGAINST PSORIASIS - PROTECTION AGAINST - INCLUDED IL23R - ARG381GLN 216 216 GLY SER EPILEPSY - PROGRESSIVE MYOCLONIC 2A EPM2A - GLY216SER 45 45 ARG CYS EPILEPSY - PROGRESSIVE MYOCLONIC 2A EPM2A - ARG45CYS 90 90 ARG HIS EPILEPSY - PROGRESSIVE MYOCLONIC 2A EPM2A - ARG90HIS 198 198 GLY SER EPILEPSY - PROGRESSIVE MYOCLONIC 2A EPM2A - GLY198SER 32 32 TRP GLY EPILEPSY - PROGRESSIVE MYOCLONIC 2A EPM2A - TRP32GLY 186 186 ARG TRP METHYLMALONIC ACIDURIA - cblB TYPE MMAB - ARG186TRP 350 350 ASN SER ARYLSULFATASE A POLYMORPHISM ARSA - ASN350SER 426 426 PRO LEU METACHROMATIC LEUKODYSTROPHY - JUVENILE ARYLSULFATASE A - ALLELE A - INCLUDED;; METACHROMATIC LEUKODYSTROPHY - ADULT - INCLUDED ARSA - PRO426LEU 99 99 GLY ASP METACHROMATIC LEUKODYSTROPHY - ADULT ARSA - GLY99ASP 96 96 SER PHE METACHROMATIC LEUKODYSTROPHY - LATE INFANTILE ARSA - SER96PHE 179 179 ILE SER METACHROMATIC LEUKODYSTROPHY - JUVENILE METACHROMATIC LEUKODYSTROPHY - ADULT - INCLUDED ARSA - ILE179SER 84 84 ARG GLN METACHROMATIC LEUKODYSTROPHY - LATE-ONSET ARSA - ARG84GLN 309 309 GLY SER METACHROMATIC LEUKODYSTROPHY - LATE INFANTILE ARSA - GLY309SER 86 86 GLY ASP METACHROMATIC LEUKODYSTROPHY - SEVERE ARSA - GLY86ASP 96 96 SER LEU METACHROMATIC LEUKODYSTROPHY - SEVERE ARSA - SER96LEU 122 122 GLY SER METACHROMATIC LEUKODYSTROPHY ARSA - GLY122SER 136 136 PRO LEU METACHROMATIC LEUKODYSTROPHY - SEVERE ARSA - PRO136LEU 154 154 GLY ASP METACHROMATIC LEUKODYSTROPHY ARSA - GLY154ASP 155 155 PRO ARG ARYLSULFATASE A PSEUDODEFICIENCY ARSA - PRO155ARG 167 167 PRO ARG METACHROMATIC LEUKODYSTROPHY ARSA - PRO167ARG 169 169 ASP ASN ARYLSULFATASE A PSEUDODEFICIENCY ARSA - ASP169ASN 212 212 ALA VAL METACHROMATIC LEUKODYSTROPHY ARSA - ALA212VAL 224 224 ALA VAL METACHROMATIC LEUKODYSTROPHY ARSA - ALA224VAL 231 231 PRO THR METACHROMATIC LEUKODYSTROPHY ARSA - PRO231THR 244 244 ARG CYS METACHROMATIC LEUKODYSTROPHY ARSA - ARG244CYS 245 245 GLY ARG METACHROMATIC LEUKODYSTROPHY - SEVERE ARSA - GLY245ARG 274 274 THR MET METACHROMATIC LEUKODYSTROPHY - SEVERE ARSA - THR274MET 288 288 ARG CYS METACHROMATIC LEUKODYSTROPHY ARSA - ARG288CYS 295 295 SER TYR METACHROMATIC LEUKODYSTROPHY - SEVERE ARSA - SER295TYR 325 325 GLY CYS ARYLSULFATASE A PSEUDODEFICIENCY ARSA - IVS5DS - G-T - -1 - GLY325CYS 335 335 ASP VAL METACHROMATIC LEUKODYSTROPHY - SEVERE ARSA - ASP335VAL 370 370 ARG TRP METACHROMATIC LEUKODYSTROPHY - SEVERE ARSA - ARG370TRP 370 370 ARG GLN METACHROMATIC LEUKODYSTROPHY - MILD ARSA - ARG370GLN 377 377 PRO LEU ARYLSULFATASE A PSEUDODEFICIENCY - SEVERE ARSA - PRO377LEU 382 382 GLU LYS ARYLSULFATASE A PSEUDODEFICIENCY - INTERMEDIATE ARSA - GLU382LYS 390 390 ARG TRP METACHROMATIC LEUKODYSTROPHY ARSA - ARG390TRP 409 409 THR ILE METACHROMATIC LEUKODYSTROPHY - MILD ARSA - THR409ILE 135 135 LEU PRO METACHROMATIC LEUKODYSTROPHY - ADULT ARSA - LEU135PRO 286 286 THR PRO METACHROMATIC LEUKODYSTROPHY - ADULT ARSA - THR286PRO 253 253 GLU LYS METACHROMATIC LEUKODYSTROPHY - LATE INFANTILE ARSA - GLU253LYS 408 408 THR ILE METACHROMATIC LEUKODYSTROPHY - ADULT ARSA - THR408ILE 300 300 CYS PHE METACHROMATIC LEUKODYSTROPHY - LATE INFANTILE ARSA - CYS300PHE 425 425 PRO THR METACHROMATIC LEUKODYSTROPHY - JUVENILE ARSA - PRO425THR 2424 2424 VAL GLY ATAXIA-TELANGIECTASIA VARIANT T-CELL PROLYMPHOCYTIC LEUKEMIA - SOMATIC - INCLUDED;; BREAST CANCER - SUSCEPTIBILITY TO - INCLUDED ATM - VAL2424GLY 2827 2827 PHE CYS ATAXIA-TELANGIECTASIA VARIANT ATM - PHE2827CYS 1682 1682 ASP HIS T-CELL PROLYMPHOCYTIC LEUKEMIA - SOMATIC ATM - ASP1682HIS 1040 1040 MET VAL B-CELL NON-HODGKIN LYMPHOMA - SOMATIC ATM - MET1040VAL 2656 2656 LEU PRO ATAXIA-TELANGIECTASIA WITHOUT IMMUNODEFICIENCY ATM - LEU2656PRO 2625 2625 ASP GLU ATAXIA-TELANGIECTASIA ATM - ASP2625GLU - ALA2626PRO 2626 2626 ALA PRO ATAXIA-TELANGIECTASIA ATM - ASP2625GLU - ALA2626PRO 2423 2423 GLU GLY MANTLE CELL LYMPHOMA ATM - GLU2423GLY 2677 2677 TYR CYS ATAXIA-TELANGIECTASIA VARIANT ATM - TYR2677CYS 2677 2677 TYR CYS ATAXIA-TELANGIECTASIA VARIANT ATM - TYR2677CYS 49 49 SER CYS BREAST CANCER - SUSCEPTIBILITY TO ATM - SER49CYS 323 323 HIS ARG BARDET-BIEDL SYNDROME 7 BBS7 - HIS323ARG 211 211 THR ILE BARDET-BIEDL SYNDROME 7 BBS7 - THR211ILE 459 459 GLY ASP RETINAL CONE DYSTROPHY 3B KCNV2 - GLY459ASP 256 256 SER TRP RETINAL CONE DYSTROPHY 3B KCNV2 - SER256TRP 163 163 ARG TRP PALMOPLANTAR KERATODERMA - EPIDERMOLYTIC PALMOPLANTAR KERATODERMA - EPIDERMOLYTIC - WITH KNUCKLE PADS - INCLUDED KRT9 - ARG163TRP 172 172 GLN PRO PALMOPLANTAR KERATODERMA - EPIDERMOLYTIC KRT9 - GLN172PRO 161 161 ASN TYR PALMOPLANTAR KERATODERMA - EPIDERMOLYTIC KRT9 - ASN161TYR 161 161 ASN LYS PALMOPLANTAR KERATODERMA - EPIDERMOLYTIC KRT9 - ASN161LYS 163 163 ARG GLN PALMOPLANTAR KERATODERMA - EPIDERMOLYTIC KRT9 - ARG163GLN 157 157 MET VAL PALMOPLANTAR KERATODERMA - EPIDERMOLYTIC KRT9 - MET157VAL 161 161 ASN SER PALMOPLANTAR KERATODERMA - EPIDERMOLYTIC KRT9 - ASN161SER 168 168 LEU SER PALMOPLANTAR KERATODERMA - EPIDERMOLYTIC KRT9 - LEU168SER 160 160 LEU VAL PALMOPLANTAR KERATODERMA - EPIDERMOLYTIC KRT9 - LEU160VAL 157 157 MET THR PALMOPLANTAR KERATODERMA - EPIDERMOLYTIC KRT9 - MET157THR 171 171 VAL MET PALMOPLANTAR KERATODERMA - EPIDERMOLYTIC KRT9 - VAL171MET 160 160 LEU PHE PALMOPLANTAR KERATODERMA - EPIDERMOLYTIC - WITH KNUCKLE PADS KRT9 - LEU160PHE 161 161 ASN ILE PALMOPLANTAR KERATODERMA - EPIDERMOLYTIC - WITH KNUCKLE PADS KRT9 - ASN161ILE 496 496 ARG LEU NIEMANN-PICK DISEASE - TYPE A SMPD1 - ARG496LEU 577 577 GLY SER NIEMANN-PICK DISEASE - TYPE A SMPD1 - GLY577SER 436 436 SER ARG NIEMANN-PICK DISEASE - TYPE B SMPD1 - SER436ARG 382 382 MET ILE NIEMANN-PICK DISEASE - TYPE A SMPD1 - MET382ILE 242 242 GLY ARG NIEMANN-PICK DISEASE - TYPE B SMPD1 - GLY242ARG 383 383 ASN SER NIEMANN-PICK DISEASE - TYPE B SMPD1 - ASN383SER 302 302 LEU PRO NIEMANN-PICK DISEASE - TYPE A SMPD1 - LEU302PRO 391 391 TRP GLY NIEMANN-PICK DISEASE - INTERMEDIATE - PROTRACTED NEUROVISCERAL SMPD1 - TRP391GLY 421 421 HIS TYR NIEMANN-PICK DISEASE - TYPE B SMPD1 - HIS421TYR 292 292 GLN LYS NIEMANN-PICK DISEASE - TYPE B NIEMANN-PICK DISEASE - INTERMEDIATE - PROTRACTED NEUROVISCERAL - INCLUDED SMPD1 - GLN292LYS 482 482 ALA GLU NIEMANN-PICK DISEASE - TYPE A SMPD1 - ALA482GLU 467 467 TYR SER NIEMANN-PICK DISEASE - TYPE A SMPD1 - TYR467SER 928 928 GLN PRO NIEMANN-PICK DISEASE - TYPE C1 NPC1 - GLN928PRO 1036 1036 THR MET NIEMANN-PICK DISEASE - TYPE C1 NPC1 - THR1036MET 1156 1156 ASN SER NIEMANN-PICK DISEASE - TYPE C1 NPC1 - ASN1156SER 992 992 GLY TRP NIEMANN-PICK DISEASE - TYPE D NPC1 - GLY992TRP 889 889 VAL MET NIEMANN-PICK DISEASE - TYPE C1 - ADULT FORM NPC1 - VAL889MET 1088 1088 TYR CYS NIEMANN-PICK DISEASE - TYPE C1 - JUVENILE FORM NPC1 - TYR1088CYS 1213 1213 LEU PHE NIEMANN-PICK DISEASE - TYPE C1 - JUVENILE FORM NPC1 - LEU1213PHE 1061 1061 ILE THR NIEMANN-PICK DISEASE - TYPE C1 NPC1 - ILE1061THR 958 958 ARG GLN NIEMANN-PICK DISEASE - VARIANT TYPE C1 NPC1 - ARG958GLN 1007 1007 PRO ALA NIEMANN-PICK DISEASE - VARIANT TYPE C1 NPC1 - PRO1007ALA 992 992 GLY ARG NIEMANN-PICK DISEASE - TYPE C1 NPC1 - GLY992ARG 378 378 VAL ALA NIEMANN-PICK DISEASE - TYPE C1 NPC1 - VAL378ALA 950 950 VAL MET NIEMANN-PICK DISEASE - TYPE C1 NPC1 - VAL950MET 1035 1035 ALA VAL NIEMANN-PICK DISEASE - TYPE C1 NPC1 - ALA1035VAL 177 177 CYS TYR NIEMANN-PICK DISEASE - TYPE C1 NPC1 - CYS177TYR 978 978 ARG CYS NIEMANN-PICK DISEASE - TYPE C1 NPC1 - ARG978CYS 113 113 CYS ARG NIEMANN-PICK DISEASE - TYPE C1 NPC1 - CYS113ARG 149 149 ARG CYS XANTHINURIA - TYPE I XDH - ARG149CYS 1808 1808 SER ASN SMITH-MAGENIS SYNDROME RAI1 - SER1808ASN 1562 1562 GLN ARG SMITH-MAGENIS SYNDROME RAI1 - GLN1562ARG 67 67 THR ILE CYSTATHIONINURIA CTH - THR67ILE 240 240 GLN GLU CYSTATHIONINURIA CTH - GLN240GLU 403 403 SER ILE HOMOCYSTEINE - TOTAL PLASMA - ELEVATED CTH - 1364G-T - SER403ILE 197 197 ARG LEU COLD-INDUCED SWEATING SYNDROME 2 CLCF1 - ARG197LEU 37 37 GLY ARG CHYLOMICRON RETENTION DISEASE SAR1B - GLY37ARG 137 137 ASP ASN CHYLOMICRON RETENTION DISEASE SAR1B - ASP137ASN 179 179 SER ARG CHYLOMICRON RETENTION DISEASE SAR1B - SER179ARG 185 185 GLY VAL CHYLOMICRON RETENTION DISEASE SAR1B - GLY185VAL 540 540 ARG GLN THYROID HORMONE METABOLISM - ABNORMAL SECISBP2 - ARG540GLN 48 48 LEU PRO USHER SYNDROME - TYPE IG USH1G - LEU48PRO 48 48 VAL ALA HYPERCHOLANEMIA - FAMILIAL TJP2 - VAL48ALA 49 49 ALA PRO PHENYLTHIOCARBAMIDE TASTING TAS2R38 - ALA49PRO 262 262 VAL ALA PHENYLTHIOCARBAMIDE TASTING TAS2R38 - VAL262ALA 296 296 ILE VAL PHENYLTHIOCARBAMIDE TASTING TAS2R38 - ILE296VAL 843 874 ILE SER BAK PLATELET-SPECIFIC ANTIGEN ITGA2B - ILE843SER 273 273 GLY ASP GLANZMANN THROMBASTHENIA ITGA2B - GLY273ASP 327 358 ARG HIS GLANZMANN THROMBASTHENIA ITGA2B - ARG327HIS 418 449 GLY ASP GLANZMANN THROMBASTHENIA ITGA2B - GLY418ASP 324 355 GLU LYS GLANZMANN THROMBASTHENIA ITGA2B - GLU324LYS 565 596 ILE THR GLANZMANN THROMBASTHENIA ITGA2B - ILE565THR 214 214 LEU PRO GLANZMANN THROMBASTHENIA ITGA2B - LEU214PRO 926 957 SER LEU GLANZMANN THROMBASTHENIA ITGA2B - SER926LEU 595 626 GLN HIS GLANZMANN THROMBASTHENIA ITGA2B - GLN595HIS 40 40 ARG TRP MENTAL RETARDATION - AUTOSOMAL DOMINANT 4 KIRREL3 - ARG40TRP 336 336 ARG GLN MENTAL RETARDATION - AUTOSOMAL DOMINANT 4 KIRREL3 - ARG336GLN 731 731 VAL PHE MENTAL RETARDATION - AUTOSOMAL DOMINANT 4 KIRREL3 - VAL731PHE 147 147 GLU LYS BILE ACID SYNTHESIS DEFECT - CONGENITAL - 1 HSD3B7 - GLU147LYS 127 127 SER ARG HYPERCHOLESTEROLEMIA - FAMILIAL - 3 PCSK9 - SER127ARG 216 216 PHE LEU HYPERCHOLESTEROLEMIA - FAMILIAL - 3 PCSK9 - PHE216LEU 374 374 ASP TYR HYPERCHOLESTEROLEMIA - FAMILIAL - 3 PCSK9 - ASP374TYR 46 46 ARG LEU LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1 PCSK9 - ARG46LEU 129 129 ASP GLU FACTOR V AND FACTOR VIII - COMBINED DEFICIENCY OF - 2 MCFD2 - ASP129GLU 136 136 ILE THR FACTOR V AND FACTOR VIII - COMBINED DEFICIENCY OF - 2 MCFD2 - ILE136THR 81 81 ASP TYR FACTOR V AND FACTOR VIII - COMBINED DEFICIENCY OF - 2 MCFD2 - ASP81TYR 1381 1381 GLY GLU ICHTHYOSIS - LAMELLAR - 2 ABCA12 - GLY1381GLU 1380 1380 ASN SER ICHTHYOSIS - LAMELLAR - 2 ABCA12 - ASN1380SER 1651 1651 GLY SER ICHTHYOSIS - LAMELLAR - 2 ABCA12 - GLY1651SER 1514 1514 ARG HIS ICHTHYOSIS - LAMELLAR - 2 ABCA12 - ARG1514HIS 1539 1539 GLU LYS ICHTHYOSIS - LAMELLAR - 2 ABCA12 - GLU1539LYS 2363 2363 ASP ASN HARLEQUIN ICHTHYOSIS ABCA12 - ASP2363ASN 1179 1179 GLY ARG HARLEQUIN ICHTHYOSIS ABCA12 - GLY1179ARG 236 236 ARG GLN JALILI SYNDROME CNNM4 - ARG236GLN 324 324 LEU PRO JALILI SYNDROME CNNM4 - LEU324PRO 200 200 SER TYR JALILI SYNDROME CNNM4 - SER200TYR 347 347 ALA THR 3-@KETOTHIOLASE DEFICIENCY ACAT1 - ALA347THR 150 150 GLY ARG 3-@KETOTHIOLASE DEFICIENCY ACAT1 - GLY150ARG 1 1 MET LYS 3-@KETOTHIOLASE DEFICIENCY ACAT1 - MET1LYS 379 379 GLY VAL 3-@KETOTHIOLASE DEFICIENCY ACAT1 - GLY379VAL 93 93 ASN SER 3-@KETOTHIOLASE DEFICIENCY ACAT1 - ASN93SER 312 312 ILE THR 3-@KETOTHIOLASE DEFICIENCY ACAT1 - ILE312THR 333 333 ALA PRO 3-@KETOTHIOLASE DEFICIENCY ACAT1 - ALA333PRO 145 145 GLN GLU 3-@KETOTHIOLASE DEFICIENCY ACAT1 - GLN145GLU 2193 2193 LEU ARG COHEN SYNDROME VPS13B - LEU2193ARG 2993 2993 ASN SER COHEN SYNDROME VPS13B - ASN2993SER 2645 2645 GLY ASP COHEN SYNDROME VPS13B - GLY2645ASP 2820 2820 ILE THR COHEN SYNDROME VPS13B - ILE2820THR 62 62 ALA THR URIC ACID NEPHROLITHIASIS - SUSCEPTIBILITY TO ZNF365 - ALA62THR 62 62 ALA THR URIC ACID NEPHROLITHIASIS - SUSCEPTIBILITY TO ZNF365 - ALA62THR 24 24 ARG GLY CEROID LIPOFUSCINOSIS - NEURONAL - 8 - NORTHERN EPILEPSY VARIANT CLN8 - ARG24GLY 263 263 TRP CYS CEROID LIPOFUSCINOSIS - NEURONAL - 8 CLN8 - TRP263CYS 204 204 ARG CYS CEROID LIPOFUSCINOSIS - NEURONAL - 8 CLN8 - ARG204CYS 30 30 ALA PRO CEROID LIPOFUSCINOSIS - NEURONAL - 8 CLN8 - ALA30PRO 106 106 GLY SER MUCOLIPIDOSIS III GAMMA GNPTG - GLY106SER 329 329 TYR SER GLYCOGEN STORAGE DISEASE IV - NONPROGRESSIVE HEPATIC ADULT POLYGLUCOSAN BODY DISEASE - INCLUDED GBE1 - TYR329SER 224 224 LEU PRO GLYCOGEN STORAGE DISEASE IV - NONPROGRESSIVE HEPATIC GBE1 - LEU224PRO 515 515 ARG CYS GLYCOGEN STORAGE DISEASE IV - CLASSIC HEPATIC ADULT POLYGLUCOSAN BODY DISEASE - INCLUDED GBE1 - ARG515CYS 257 257 PHE LEU GLYCOGEN STORAGE DISEASE IV - CLASSIC HEPATIC GBE1 - PHE257LEU 524 524 ARG GLN GLYCOGEN STORAGE DISEASE IV - COMBINED HEPATIC AND MYOPATHIC ADULT POLYGLUCOSAN BODY DISEASE - INCLUDED GBE1 - ARG524GLN 545 545 HIS ARG GLYCOGEN STORAGE DISEASE IV - FATAL PERINATAL NEUROMUSCULAR GBE1 - HIS545ARG 628 628 HIS ARG GLYCOGEN STORAGE DISEASE IV - CHILDHOOD NEUROMUSCULAR GBE1 - HIS628ARG 236 236 GLN HIS GLYCOGEN STORAGE DISEASE IV - CONGENITAL NEUROMUSCULAR GBE1 - GLN236HIS 262 262 ARG CYS GLYCOGEN STORAGE DISEASE IV - CONGENITAL NEUROMUSCULAR GBE1 - ARG262CYS 407 407 ASP GLY MUCOLIPIDOSIS III ALPHA/BETA GNPTAB - ASP407GLY 4 4 LYS GLN MUCOLIPIDOSIS III ALPHA/BETA GNPTAB - LYS4GLN 374 374 PHE LEU MUCOLIPIDOSIS III ALPHA/BETA MUCOLIPIDOSIS II ALPHA/BETA - INCLUDED GNPTAB - PHE374LEU 93 93 TRP CYS BEST MACULAR DYSTROPHY BEST1 - TRP93CYS 85 85 TYR HIS BEST MACULAR DYSTROPHY BEST1 - TYR85HIS 299 299 GLY GLU BEST MACULAR DYSTROPHY BEST1 - GLY299GLU 227 227 TYR ASN BEST MACULAR DYSTROPHY BEST1 - TYR227ASN 6 6 THR PRO BEST MACULAR DYSTROPHY VITELLIFORM MACULAR DYSTROPHY - ADULT-ONSET - INCLUDED;; BEST VITELLIFORM MACULAR DYSTROPHY - MULTIFOCAL - INCLUDED BEST1 - THR6PRO 9 9 VAL MET BEST MACULAR DYSTROPHY BEST1 - VAL9MET 119 119 GLU GLN MACULOPATHY - BULL'S-EYE BEST1 - GLU119GLN 146 146 ALA LYS VITELLIFORM MACULAR DYSTROPHY - ADULT-ONSET BEST1 - ALA146LYS 243 243 ALA VAL BEST MACULAR DYSTROPHY VITELLIFORM MACULAR DYSTROPHY - ADULT-ONSET - INCLUDED BEST1 - ALA243VAL 47 47 ARG HIS VITELLIFORM MACULAR DYSTROPHY - ADULT-ONSET BEST1 - ARG47HIS 141 141 ARG HIS BEST MACULAR DYSTROPHY BESTROPHINOPATHY - AUTOSOMAL RECESSIVE - INCLUDED BEST1 - ARG141HIS 317 317 VAL MET BESTROPHINOPATHY - AUTOSOMAL RECESSIVE BEST1 - VAL317MET 41 41 LEU PRO BESTROPHINOPATHY - AUTOSOMAL RECESSIVE BEST1 - LEU41PRO 86 86 VAL MET VITREORETINOCHOROIDOPATHY BEST1 - VAL86MET 239 239 VAL MET MICROCORNEA - ROD-CONE DYSTROPHY - CATARACT - AND POSTERIOR STAPHYLOMA BEST1 - VAL239MET 236 236 TYR CYS VITREORETINOCHOROIDOPATHY BEST1 - TYR236CYS 205 205 ILE THR RETINITIS PIGMENTOSA 50 BEST1 - ILE205THR 228 228 ASP ASN RETINITIS PIGMENTOSA 50 RETINITIS PIGMENTOSA - CONCENTRIC - INCLUDED BEST1 - ASP228ASN 227 227 TYR CYS BEST MACULAR DYSTROPHY RETINITIS PIGMENTOSA - CONCENTRIC - INCLUDED BEST1 - TYR227CYS 140 140 LEU VAL RETINITIS PIGMENTOSA 50 BEST1 - LEU140VAL 235 235 VAL ALA VITREORETINOCHOROIDOPATHY BEST1 - VAL235ALA 192 192 SER PRO MONILETHRIX-LIKE HYPOTRICHOSIS - AUTOSOMAL RECESSIVE DSG4 - SER192PRO 267 267 PRO ARG MONILETHRIX-LIKE HYPOTRICHOSIS - AUTOSOMAL RECESSIVE DSG4 - PRO267ARG 161 161 PHE LEU EPILEPSY - CHILDHOOD ABSENCE - SUSCEPTIBILITY TO - 6 CACNA1H - PHE161LEU 282 282 GLU LYS EPILEPSY - CHILDHOOD ABSENCE - SUSCEPTIBILITY TO - 6 CACNA1H - GLU282LYS 831 831 VAL MET EPILEPSY - CHILDHOOD ABSENCE - SUSCEPTIBILITY TO - 6 CACNA1H - VAL831MET 773 773 GLY ASP EPILEPSY - CHILDHOOD ABSENCE - SUSCEPTIBILITY TO - 6 CACNA1H - GLY773ASP AND ARG788CYS 788 788 ARG CYS EPILEPSY - CHILDHOOD ABSENCE - SUSCEPTIBILITY TO - 6 CACNA1H - GLY773ASP AND ARG788CYS 618 618 PRO LEU EPILEPSY - IDIOPATHIC GENERALIZED - SUSCEPTIBILITY TO - 6 CACNA1H - PRO618LEU 876 876 ALA THR EPILEPSY - IDIOPATHIC GENERALIZED - SUSCEPTIBILITY TO - 6 CACNA1H - ALA876THR 183 183 MET LYS P BLOOD GROUP SYSTEM - p PHENOTYPE A4GALT - MET183LYS 251 251 PRO LEU P BLOOD GROUP SYSTEM - p PHENOTYPE A4GALT - PRO251LEU 187 187 GLY ASP P BLOOD GROUP SYSTEM - p PHENOTYPE A4GALT - GLY187ASP 1 1 MET VAL CEREBRAL CAVERNOUS MALFORMATIONS 2 CCM2 - MET1VAL 198 198 LEU ARG CEREBRAL CAVERNOUS MALFORMATIONS 2 CCM2 - LEU198ARG 349 349 ARG TRP MULTIPLE SULFATASE DEFICIENCY SUMF1 - ARG349TRP 349 349 ARG GLN MULTIPLE SULFATASE DEFICIENCY SUMF1 - ARG349GLN 336 336 CYS ARG MULTIPLE SULFATASE DEFICIENCY SUMF1 - CYS336ARG 279 279 ALA VAL MULTIPLE SULFATASE DEFICIENCY SUMF1 - ALA279VAL 155 155 SER PRO MULTIPLE SULFATASE DEFICIENCY SUMF1 - SER155PRO 1 1 MET ARG MULTIPLE SULFATASE DEFICIENCY SUMF1 - MET1ARG 345 345 ARG CYS MULTIPLE SULFATASE DEFICIENCY SUMF1 - ARG345CYS 348 348 ALA PRO MULTIPLE SULFATASE DEFICIENCY SUMF1 - ALA348PRO 218 218 CYS TYR MULTIPLE SULFATASE DEFICIENCY SUMF1 - CYS218TYR 1 1 MET VAL MULTIPLE SULFATASE DEFICIENCY SUMF1 - MET1VAL 141 141 GLY ARG BARDET-BIEDL SYNDROME 9 PTHB1 - GLY141ARG 138 138 GLU LYS EXOCRINE PANCREATIC INSUFFICIENCY - DYSERYTHROPOIETIC ANEMIA - AND CALVARIAL HYPEROSTOSIS COX4I2 - GLU138LYS 365 365 CYS ARG CEROID LIPOFUSCINOSIS - NEURONAL - 2 TPP1 - CYS365ARG 365 365 CYS TYR CEROID LIPOFUSCINOSIS - NEURONAL - 2 TPP1 - CYS365TYR 447 447 ARG HIS CEROID LIPOFUSCINOSIS - NEURONAL - 2 TPP1 - ARG447HIS 206 206 ARG CYS CEROID LIPOFUSCINOSIS - NEURONAL - 2 TPP1 - ARG206CYS 284 284 GLY VAL CEROID LIPOFUSCINOSIS - NEURONAL - 2 TPP1 - GLY284VAL 286 286 ASN SER CEROID LIPOFUSCINOSIS - NEURONAL - 2 TPP1 - ASN286SER 360 360 SER THR NEPHRONOPHTHISIS 3 NPHP3 - SER360THR 973 973 ARG GLN RENAL-HEPATIC-PANCREATIC DYSPLASIA NPHP3 - ARG973GLN 457 457 LEU PRO MARINESCO-SJOGREN SYNDROME SIL1 - LEU457PRO 55 55 VAL LEU EZETIMIBE - NONRESPONSE TO NPC1L1 - VAL55LEU 1233 1233 ILE ASN EZETIMIBE - NONRESPONSE TO NPC1L1 - ILE1233ASN 141 141 LYS ASN NEUROPATHY - DISTAL HEREDITARY MOTOR - TYPE IIA HSPB8 - 423G-C - LYS141ASN 141 141 LYS GLU NEUROPATHY - DISTAL HEREDITARY MOTOR - TYPE IIA HSPB8 - LYS141GLU 141 141 LYS ASN CHARCOT-MARIE-TOOTH DISEASE - AXONAL - TYPE 2L HSPB8 - 423G-T - LYS141ASN 285 285 GLU ALA CANAVAN DISEASE ASPA - GLU285ALA 152 152 CYS ARG CANAVAN DISEASE ASPA - CYS152ARG 305 305 ALA GLU CANAVAN DISEASE ASPA - ALA305GLU 231 231 TYR CYS CANAVAN DISEASE ASPA - TYR231CYS 24 24 GLU GLY CANAVAN DISEASE ASPA - GLU24GLY 249 249 ASP VAL CANAVAN DISEASE ASPA - ASP249VAL 71 71 ARG HIS CANAVAN DISEASE - MILD ASPA - ARG71HIS 381 381 TYR CYS JUVENILE HYALINE FIBROMATOSIS ANTXR2 - TYR381CYS 105 105 GLY ASP JUVENILE HYALINE FIBROMATOSIS ANTXR2 - GLY105ASP 329 329 LEU ARG JUVENILE HYALINE FIBROMATOSIS ANTXR2 - LEU329ARG 189 189 ILE THR INFANTILE SYSTEMIC HYALINOSIS ANTXR2 - ILE189THR 157 157 VAL GLY GLUTARIC ACIDURIA IIA ETFA - VAL157GLY 266 266 THR MET GLUTARIC ACIDURIA IIA ETFA - THR266MET 116 116 GLY ARG GLUTARIC ACIDURIA IIA ETFA - GLY116ARG 25 25 ARG TRP SPONDYLOCOSTAL DYSOSTOSIS 4 HES7 - ARG25TRP 186 186 ASP TYR SPONDYLOCOSTAL DYSOSTOSIS 4 HES7 - ASP186TYR 58 58 ILE VAL SPONDYLOCOSTAL DYSOSTOSIS 4 HES7 - ILE58VAL 26 26 CYS SER EPILEPSY - PROGRESSIVE MYOCLONIC 2B NHLRC1 - CYS26SER 69 69 PRO ALA EPILEPSY - PROGRESSIVE MYOCLONIC 2B NHLRC1 - PRO69ALA 198 198 ILE ASN EPILEPSY - PROGRESSIVE MYOCLONIC 2B NHLRC1 - ILE198ASN 308 308 ASP ALA EPILEPSY - PROGRESSIVE MYOCLONIC 2B NHLRC1 - ASP308ALA 55 55 LYS GLN APOLIPOPROTEIN C-II (AFRICAN) APOC2 - LYS55GLN 1 1 MET VAL APOLIPOPROTEIN C-II (PARIS) HYPERLIPOPROTEINEMIA - TYPE IB - INCLUDED APOC2 - MET1VAL 19 19 LYS THR APOLIPOPROTEIN C-II VARIANT APOC2 - LYS19THR 38 38 GLU LYS APOLIPOPROTEIN C-II (SAN FRANCISCO) APOC2 - GLU38LYS 26 26 TRP ARG APOLIPOPROTEIN C-II (WAKAYAMA) HYPERLIPOPROTEINEMIA - TYPE IB - INCLUDED APOC2 - TRP26ARG 239 239 PRO SER PANCREATIC CANCER - SUSCEPTIBILITY TO - 1 PALLD - PRO239SER 279 230 ASP ASN CEROID LIPOFUSCINOSIS - NEURONAL - 5 CLN5 - ASP279ASN 112 63 ARG HIS CEROID LIPOFUSCINOSIS - NEURONAL - 5 CLN5 - ARG112HIS 126 77 CYS TYR CEROID LIPOFUSCINOSIS - NEURONAL - 5 CLN5 - CYS126TYR 374 325 TYR CYS CEROID LIPOFUSCINOSIS - NEURONAL - 5 CLN5 - TYR374CYS 47 47 THR PRO CONGENITAL DISORDER OF GLYCOSYLATION - TYPE Ih ALG8 - THR47PRO 275 275 GLY ASP CONGENITAL DISORDER OF GLYCOSYLATION - TYPE Ih ALG8 - GLY275ASP 694 694 MET VAL FAMILIAL MEDITERRANEAN FEVER MEFV - MET694VAL 694 694 MET ILE FAMILIAL MEDITERRANEAN FEVER MEFV - MET694ILE 726 726 VAL ALA FAMILIAL MEDITERRANEAN FEVER MEFV - VAL726ALA 680 680 MET ILE FAMILIAL MEDITERRANEAN FEVER MEFV - MET680ILE - 2040G-C 148 148 GLU GLN FAMILIAL MEDITERRANEAN FEVER MEFV - GLU148GLN 167 167 GLU ASP FAMILIAL MEDITERRANEAN FEVER MEFV - GLU167ASP 267 267 THR ILE FAMILIAL MEDITERRANEAN FEVER MEFV - THR267ILE 479 479 PHE LEU FAMILIAL MEDITERRANEAN FEVER MEFV - PHE479LEU 695 695 LYS ARG FAMILIAL MEDITERRANEAN FEVER MEFV - LYS695ARG 744 744 ALA SER FAMILIAL MEDITERRANEAN FEVER MEFV - ALA744SER 761 761 ARG HIS FAMILIAL MEDITERRANEAN FEVER MEFV - ARG761HIS 680 680 MET ILE FAMILIAL MEDITERRANEAN FEVER MEFV - MET680ILE - 2040G-A 369 369 PRO SER FAMILIAL MEDITERRANEAN FEVER MEFV - PRO369SER 408 408 ARG GLN FAMILIAL MEDITERRANEAN FEVER MEFV - ARG408GLN 653 653 ARG HIS FAMILIAL MEDITERRANEAN FEVER MEFV - ARG653HIS 148 148 GLU VAL FAMILIAL MEDITERRANEAN FEVER MEFV - GLU148VAL 148 148 GLU GLN FAMILIAL MEDITERRANEAN FEVER - AUTOSOMAL DOMINANT MEFV - GLU148GLN AND MET694ILE 694 694 MET ILE FAMILIAL MEDITERRANEAN FEVER - AUTOSOMAL DOMINANT MEFV - GLU148GLN AND MET694ILE 478 478 HIS TYR FAMILIAL MEDITERRANEAN FEVER - AUTOSOMAL DOMINANT MEFV - HIS478TYR 116 116 ARG TRP MYOPATHY - LACTIC ACIDOSIS - AND SIDEROBLASTIC ANEMIA 1 PUS1 - ARG116TRP 115 115 ALA SER PSEUDOXANTHOMA ELASTICUM - MODIFIER OF SEVERITY OF XYLT1 - ALA115SER 801 801 THR ARG PSEUDOXANTHOMA ELASTICUM - MODIFIER OF SEVERITY OF XYLT2 - THR801ARG 153 152 THR THR BARDET-BIEDL SYNDROME 8 TTC8 - THR153THR 109 109 THR ILE SLOWED NERVE CONDUCTION VELOCITY - AUTOSOMAL DOMINANT ARHGEF10 - THR109ILE 480 480 THR ALA HYPOGONADOTROPIC HYPOGONADISM NELF - THR480ALA 45 45 THR ARG SPASTIC PARAPLEGIA 6 - AUTOSOMAL DOMINANT NIPA1 - THR45ARG 106 106 GLY ARG SPASTIC PARAPLEGIA 6 - AUTOSOMAL DOMINANT NIPA1 - 316G-C - GLY106ARG 106 106 GLY ARG SPASTIC PARAPLEGIA 6 - AUTOSOMAL DOMINANT NIPA1 - 316G-A - GLY106ARG 106 106 GLY ARG SPASTIC PARAPLEGIA 6 - AUTOSOMAL DOMINANT NIPA1 - GLY106ARG 173 173 LYS GLU ACAMPOMELIC CAMPOMELIC DYSPLASIA SOX9 - LYS173GLU 165 165 HIS TYR ACAMPOMELIC CAMPOMELIC DYSPLASIA SOX9 - HIS165TYR 76 76 ALA GLU ACAMPOMELIC CAMPOMELIC DYSPLASIA SOX9 - ALA76GLU 154 154 PHE LEU CAMPOMELIC DYSPLASIA SOX9 - PHE154LEU 158 158 ALA THR CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL SOX9 - ALA158THR 703 703 SER LEU CHARGE SYNDROME SEMA3E - SER703LEU 340 340 ARG LEU EXOSTOSES - MULTIPLE - TYPE I EXT1 - ARG340LEU 339 339 GLY ASP EXOSTOSES - MULTIPLE - TYPE I EXT1 - GLY339ASP 340 340 ARG CYS EXOSTOSES - MULTIPLE - TYPE I EXT1 - ARG340CYS 301 301 SER ARG CAYMAN ATAXIA ATCAY - IVS9 - G-T - +3 - SER301ARG 529 529 ARG GLN CHARCOT-MARIE-TOOTH DISEASE - TYPE 4C SH3TC2 - ARG529GLN 657 657 GLU LYS CHARCOT-MARIE-TOOTH DISEASE - TYPE 4C SH3TC2 - GLU657LYS 169 169 TYR HIS CHARCOT-MARIE-TOOTH DISEASE - TYPE 4C MONONEUROPATHY OF THE MEDIAN NERVE - MILD - INCLUDED SH3TC2 - TYR169HIS 227 227 ASP ASN EXOSTOSES - MULTIPLE - TYPE II EXT2 - ASP227ASN 10 10 LEU PRO BRUGADA SYNDROME 7 SCN3B - LEU10PRO 167 167 GLU ASP THROMBOCYTOPENIA - AUTOSOMAL DOMINANT - 2 MASTL - GLU167ASP 413 413 SER PRO ADENYLOSUCCINASE DEFICIENCY ADSL - SER413PRO 426 426 ARG HIS ADENYLOSUCCINASE DEFICIENCY ADSL - ARG426HIS 75 75 PRO ALA ADENYLOSUCCINASE DEFICIENCY ADSL - PRO75ALA 397 397 ASP TYR ADENYLOSUCCINASE DEFICIENCY ADSL - ASP397TYR 190 190 ARG GLN ADENYLOSUCCINASE DEFICIENCY ADSL - ARG190GLN 246 246 LYS GLU ADENYLOSUCCINASE DEFICIENCY ADSL - LYS246GLU 225 225 MET THR ADENYLOSUCCINASE DEFICIENCY ADSL - MET225THR 148 148 ASN LYS WOOLLY HAIR - AUTOSOMAL DOMINANT KRT74 - ASN148LYS 179 179 LEU PHE LONG QT SYNDROME 10 SCN4B - LEU179PHE 91 91 LEU ARG SIALIDOSIS - TYPE II NEU1 - LEU91ARG 260 260 PHE TYR SIALIDOSIS - TYPE II NEU1 - PHE260TYR 303 303 LEU PRO SIALIDOSIS - TYPE II NEU1 - LEU303PRO 217 217 VAL MET SIALIDOSIS - TYPE I NEU1 - VAL217MET 243 243 GLY ARG SIALIDOSIS - TYPE I NEU1 - GLY243ARG 80 80 PRO LEU SIALIDOSIS - TYPE II NEU1 - PRO80LEU 240 240 TRP ARG SIALIDOSIS - TYPE II NEU1 - TRP240ARG 316 316 PRO SER SIALIDOSIS - TYPE I NEU1 - PRO316SER 225 225 ARG PRO SIALIDOSIS - TYPE II NEU1 - ARG225PRO 298 298 ALA VAL SIALIDOSIS - TYPE II NEU1 - ALA298VAL 954 954 ARG TRP FIBROSIS OF EXTRAOCULAR MUSCLES - CONGENITAL - 1 FIBROSIS OF EXTRAOCULAR MUSCLES - CONGENITAL - 3B - INCLUDED KIF21A - ARG954TRP 954 954 ARG GLN FIBROSIS OF EXTRAOCULAR MUSCLES - CONGENITAL - 1 FIBROSIS OF EXTRAOCULAR MUSCLES - CONGENITAL - 3B - INCLUDED KIF21A - ARG954GLN 1010 1010 ILE THR FIBROSIS OF EXTRAOCULAR MUSCLES - CONGENITAL - 1 KIF21A - ILE1010THR 356 356 MET THR FIBROSIS OF EXTRAOCULAR MUSCLES - CONGENITAL - 1 KIF21A - MET356THR 947 947 MET VAL FIBROSIS OF EXTRAOCULAR MUSCLES - CONGENITAL - 1 KIF21A - MET947VAL 947 947 MET ARG FIBROSIS OF EXTRAOCULAR MUSCLES - CONGENITAL - 1 KIF21A - MET947ARG 947 947 MET ILE FIBROSIS OF EXTRAOCULAR MUSCLES - CONGENITAL - 3B KIF21A - MET947ILE 279 279 ALA THR N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY NAGS - ALA279THR 430 430 LEU PRO N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY NAGS - LEU430PRO 484 484 TRP ARG N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY NAGS - TRP484ARG 433 433 GLU ASP N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY NAGS - GLU433ASP 544 544 THR MET CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY CPS1 - THR544MET 337 337 HIS ARG CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY CPS1 - HIS337ARG 1405 1405 THR ASN PULMONARY HYPERTENSION - FAMILIAL PERSISTENT - OF THE NEWBORN - SUSCEPTIBILITY TO VENOOCCLUSIVE DISEASE AFTER BONE MARROW TRANSPLANTATION - SUSCEPTIBILITY TO - INCLUDED CPS1 - THR1405ASN 982 982 GLY ASP CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY CPS1 - GLY982ASP 309 309 GLY ASP PARKINSON DISEASE 6 - AUTOSOMAL RECESSIVE EARLY-ONSET PINK1 - GLY309ASP 271 271 HIS GLN PARKINSON DISEASE 6 - AUTOSOMAL RECESSIVE EARLY-ONSET PINK1 - HIS271GLN 347 347 LEU PRO PARKINSON DISEASE 6 - AUTOSOMAL RECESSIVE EARLY-ONSET PINK1 - LEU347PRO 279 279 ARG HIS PARKINSON DISEASE 6 - EARLY-ONSET PINK1 - ARG279HIS 313 313 THR MET PARKINSON DISEASE 6 - AUTOSOMAL RECESSIVE EARLY-ONSET PINK1 - THR313MET 217 217 ALA ASP PARKINSON DISEASE 6 - AUTOSOMAL RECESSIVE EARLY-ONSET PINK1 - ALA217ASP 431 431 TYR HIS PARKINSON DISEASE 6 - LATE-ONSET - SUSCEPTIBILITY TO PINK1 - TYR431HIS 399 399 PRO LEU PARKINSON DISEASE - AUTOSOMAL RECESSIVE EARLY-ONSET - DIGENIC - PINK1/DJ1 PINK1 - PRO399LEU 95 95 ARG CYS ARGININOSUCCINIC ACIDURIA ASL - ARG95CYS 286 286 GLN ARG ARGININOSUCCINIC ACIDURIA ASL - GLN286ARG 385 385 ARG CYS ARGININOSUCCINIC ACIDURIA ASL - ARG385CYS 178 178 VAL MET ARGININOSUCCINIC ACIDURIA ASL - VAL178MET 379 379 ARG CYS ARGININOSUCCINIC ACIDURIA ASL - ARG379CYS 290 290 THR SER ARGININEMIA ARG1 - THR290SER 235 235 GLY ARG ARGININEMIA ARG1 - GLY235ARG 11 11 ILE THR ARGININEMIA ARG1 - ILE11THR 138 138 GLY VAL ARGININEMIA ARG1 - GLY138VAL 87 87 GLY VAL IMINOGLYCINURIA - DIGENIC HYPERGLYCINURIA - INCLUDED SLC36A2 - GLY87VAL 393 438 TYR ASN MAPLE SYRUP URINE DISEASE - CLASSIC - TYPE IA BCKDHA - TYR393ASN 245 290 GLY ARG MAPLE SYRUP URINE DISEASE - INTERMEDIATE - TYPE IA BCKDHA - GLY245ARG 364 409 PHE CYS MAPLE SYRUP URINE DISEASE - INTERMEDIATE - TYPE IA MAPLE SYRUP URINE DISEASE - CLASSIC - TYPE IA - INCLUDED BCKDHA - PHE364CYS 220 265 ARG TRP MAPLE SYRUP URINE DISEASE - CLASSIC - TYPE IA BCKDHA - ARG220TRP 204 249 GLY SER MAPLE SYRUP URINE DISEASE - CLASSIC - TYPE IA BCKDHA - GLY204SER 265 310 THR ARG MAPLE SYRUP URINE DISEASE - CLASSIC - TYPE IA BCKDHA - THR265ARG 219 264 CYS TRP MAPLE SYRUP URINE DISEASE - CLASSIC - TYPE IA BCKDHA - CYS219TRP 320 320 GLY VAL HEMOCHROMATOSIS - TYPE 2A HEMOCHROMATOSIS - HEREDITARY - INCLUDED HJV - GLY320VAL 222 222 ILE ASN HEMOCHROMATOSIS - TYPE 2A HJV - ILE222ASN 281 281 ILE THR HEMOCHROMATOSIS - TYPE 2A HJV - ILE281THR 80 80 CYS ARG HEMOCHROMATOSIS - TYPE 2A HJV - CYS80ARG 101 101 LEU PRO HEMOCHROMATOSIS - TYPE 2A HJV - LEU101PRO 319 319 CYS TYR USHER SYNDROME - TYPE IIA USH2A - CYS319TYR 759 759 CYS PHE RETINITIS PIGMENTOSA 39 USH2A - CYS759PHE 317 317 ARG ARG USHER SYNDROME - TYPE IIA USH2A - 949C-A - ARG317ARG 419 419 CYS PHE USHER SYNDROME - TYPE IIA USH2A - CYS419PHE 4674 4674 ARG GLY RETINITIS PIGMENTOSA 39 USH2A - ARG4674GLY 1484 1484 SER LEU NEPHROTIC SYNDROME - TYPE 3 PLCE1 - SER1484LEU 213 213 ARG PRO EHLERS-DANLOS SYNDROME - MUSCULOCONTRACTURAL TYPE CHST14 - ARG213PRO 135 135 ARG GLY EHLERS-DANLOS SYNDROME - MUSCULOCONTRACTURAL TYPE CHST14 - ARG135GLY AND LEU137GLN 137 137 LEU GLN EHLERS-DANLOS SYNDROME - MUSCULOCONTRACTURAL TYPE CHST14 - ARG135GLY AND LEU137GLN 293 293 TYR CYS EHLERS-DANLOS SYNDROME - MUSCULOCONTRACTURAL TYPE CHST14 - TYR293CYS 281 281 PRO LEU EHLERS-DANLOS SYNDROME - MUSCULOCONTRACTURAL TYPE CHST14 - PRO281LEU 289 289 CYS SER EHLERS-DANLOS SYNDROME - MUSCULOCONTRACTURAL TYPE CHST14 - CYS289SER 257 3423 ARG HIS EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES SYNE1 - ARG257HIS 572 3738 VAL LEU EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 SYNE1 - VAL572LEU 646 3812 GLU LYS EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES SYNE1 - GLU646LYS 89 89 THR MET EMERY-DREIFUSS MUSCULAR DYSTROPHY 5 SYNE2 - THR89MET 163 163 ARG TRP ENCEPHALOPATHY - ETHYLMALONIC ETHE1 - ARG163TRP 1 1 MET ILE ENCEPHALOPATHY - ETHYLMALONIC ETHE1 - MET1ILE 205 205 GLY SER MCARDLE DISEASE PYGM - GLY205SER 543 543 LYS THR MCARDLE DISEASE PYGM - LYS543THR 1 1 MET GLY MCARDLE DISEASE PYGM - MET1GLY 654 655 GLU LYS MCARDLE DISEASE PYGM - GLU654LYS 396 397 LEU PRO MCARDLE DISEASE PYGM - LEU396PRO 685 686 GLY ARG MCARDLE DISEASE PYGM - GLY685ARG 665 666 GLN GLU MCARDLE DISEASE PYGM - GLN665GLU 1 1 MET VAL MCARDLE DISEASE PYGM - MET1VAL 797 798 TRP ARG MCARDLE DISEASE PYGM - TRP797ARG 608 609 LYS LYS MCARDLE DISEASE PYGM - LYS608LYS 2213 2213 PRO LEU SPINOCEREBELLAR ATAXIA - AUTOSOMAL RECESSIVE 1 SETX - PRO2213LEU 332 332 ARG TRP SPINOCEREBELLAR ATAXIA - AUTOSOMAL RECESSIVE 1 SETX - ARG332TRP 389 389 LEU SER AMYOTROPHIC LATERAL SCLEROSIS 4 - JUVENILE SETX - LEU389SER 3 3 THR ILE AMYOTROPHIC LATERAL SCLEROSIS 4 - JUVENILE SETX - THR3ILE 2136 2136 ARG HIS AMYOTROPHIC LATERAL SCLEROSIS 4 - JUVENILE SETX - ARG2136HIS 1976 1976 LEU ARG SPINOCEREBELLAR ATAXIA - AUTOSOMAL RECESSIVE 1 SETX - LEU1976ARG 603 603 ASN ASP SPINOCEREBELLAR ATAXIA - AUTOSOMAL RECESSIVE 1 SETX - ASN603ASP AND GLN653LYS 653 653 GLN LYS SPINOCEREBELLAR ATAXIA - AUTOSOMAL RECESSIVE 1 SETX - ASN603ASP AND GLN653LYS 1294 1294 ARG CYS SPINOCEREBELLAR ATAXIA - AUTOSOMAL RECESSIVE 1 SETX - MET274ILE AND ARG1294CYS 274 274 MET ILE SPINOCEREBELLAR ATAXIA - AUTOSOMAL RECESSIVE 1 SETX - MET274ILE AND ARG1294CYS 1977 1977 LEU PHE SPINOCEREBELLAR ATAXIA - AUTOSOMAL RECESSIVE 1 SETX - LEU1977PHE 104 104 ARG GLN EPILEPSY - PROGRESSIVE MYOCLONIC 1B; EPM1B PRICKLE1 - ARG104GLN 94 94 ARG GLN CHARCOT-MARIE-TOOTH DISEASE - AXONAL - TYPE 2A2 MFN2 - ARG94GLN 740 740 TRP SER CHARCOT-MARIE-TOOTH DISEASE - AXONAL - TYPE 2A2 MFN2 - TRP740SER 76 76 LEU PRO CHARCOT-MARIE-TOOTH DISEASE - AXONAL - TYPE 2A2 MFN2 - LEU76PRO 280 280 ARG HIS CHARCOT-MARIE-TOOTH DISEASE - AXONAL - TYPE 2A2 MFN2 - ARG280HIS 251 251 PRO ALA CHARCOT-MARIE-TOOTH DISEASE - AXONAL - TYPE 2A2 MFN2 - PRO251ALA 69 69 VAL PHE CHARCOT-MARIE-TOOTH DISEASE - AXONAL - TYPE 2A2 MFN2 - VAL69PHE 357 357 LYS ASN CHARCOT-MARIE-TOOTH DISEASE - AXONAL - TYPE 2A2 MFN2 - LYS357ASN 165 165 HIS ASP CHARCOT-MARIE-TOOTH DISEASE - AXONAL - TYPE 2A2 MFN2 - HIS165ASP 94 94 ARG TRP CHARCOT-MARIE-TOOTH DISEASE - AXONAL - TYPE 2A2 HEREDITARY MOTOR AND SENSORY NEUROPATHY VI - INCLUDED MFN2 - ARG94TRP 276 276 GLN ARG HEREDITARY MOTOR AND SENSORY NEUROPATHY VI MFN2 - GLN276ARG 364 364 ARG TRP HEREDITARY MOTOR AND SENSORY NEUROPATHY VI MFN2 - ARG364TRP 206 206 THR ILE HEREDITARY MOTOR AND SENSORY NEUROPATHY VI MFN2 - THR206ILE 707 707 ARG TRP CHARCOT-MARIE-TOOTH DISEASE - AXONAL - TYPE 2A2 MFN2 - ARG707TRP 104 104 ARG TRP HEREDITARY MOTOR AND SENSORY NEUROPATHY VI CHARCOT-MARIE-TOOTH DISEASE - AXONAL - TYPE 2A2 - INCLUDED MFN2 - ARG104TRP 468 468 ARG HIS CHARCOT-MARIE-TOOTH DISEASE - AXONAL - TYPE 2A2 MFN2 - ARG468HIS 90 90 ARG GLN GRANULOMATOUS DISEASE - CHRONIC - AUTOSOMAL RECESSIVE - CYTOCHROME b-NEGATIVE CYBA - ARG90GLN 118 118 SER ARG GRANULOMATOUS DISEASE - CHRONIC - AUTOSOMAL RECESSIVE - CYTOCHROME b-NEGATIVE CYBA - SER118ARG 156 156 PRO GLN GRANULOMATOUS DISEASE - CHRONIC - AUTOSOMAL RECESSIVE - CYTOCHROME b-NEGATIVE CYBA - PRO156GLN 94 94 HIS ARG GRANULOMATOUS DISEASE - CHRONIC - AUTOSOMAL RECESSIVE - CYTOCHROME b-NEGATIVE CYBA - HIS94ARG 72 72 HIS TYR CYBA POLYMORPHISM CYBA - HIS72TYR - 242C-T 24 24 GLY ARG GRANULOMATOUS DISEASE - CHRONIC - AUTOSOMAL RECESSIVE - CYTOCHROME b-NEGATIVE CYBA - GLY24ARG 125 125 ALA THR GRANULOMATOUS DISEASE - CHRONIC - AUTOSOMAL RECESSIVE - CYTOCHROME b-NEGATIVE CYBA - ALA125THR 42 42 ARG GLN GRANULOMATOUS DISEASE - CHRONIC - AUTOSOMAL RECESSIVE - CYTOCHROME b-POSITIVE - TYPE I NCF1 - ARG42GLN 192 192 GLY SER GRANULOMATOUS DISEASE - CHRONIC - AUTOSOMAL RECESSIVE - CYTOCHROME b-POSITIVE - TYPE I NCF1 - GLY192SER 161 161 ASP VAL GRANULOMATOUS DISEASE - CHRONIC - AUTOSOMAL RECESSIVE - CYTOCHROME b-POSITIVE - TYPE II NCF2 - LYS160GLU AND ASP161VAL 160 160 LYS GLU GRANULOMATOUS DISEASE - CHRONIC - AUTOSOMAL RECESSIVE - CYTOCHROME b-POSITIVE - TYPE II NCF2 - LYS160GLU AND ASP161VAL 128 128 ALA VAL GRANULOMATOUS DISEASE - CHRONIC - AUTOSOMAL RECESSIVE - CYTOCHROME b-POSITIVE - TYPE II NCF2 - ALA128VAL 77 77 ARG GLN GRANULOMATOUS DISEASE - CHRONIC - AUTOSOMAL RECESSIVE - CYTOCHROME b-POSITIVE - TYPE II NCF2 - ARG77GLN 395 395 ARG TRP GRANULOMATOUS DISEASE - CHRONIC - AUTOSOMAL RECESSIVE - CYTOCHROME b-POSITIVE - TYPE II NCF2 - ARG395TRP 167 167 ARG TRP VON HIPPEL-LINDAU SYNDROME PHEOCHROMOCYTOMA - INCLUDED VHL - ARG167TRP 167 167 ARG GLY VON HIPPEL-LINDAU SYNDROME VHL - ARG167GLY 167 167 ARG GLN VON HIPPEL-LINDAU SYNDROME VHL - ARG167GLN 88 88 TRP SER HEMANGIOBLASTOMA - SPORADIC CEREBELLAR VON HIPPEL-LINDAU SYNDROME - INCLUDED VHL - TRP88SER 135 135 LEU PHE HEMANGIOBLASTOMA - SPORADIC CEREBELLAR VHL - LEU135PHE 98 98 TYR HIS VON HIPPEL-LINDAU SYNDROME VHL - TYR98HIS 112 112 TYR HIS VON HIPPEL-LINDAU SYNDROME VHL - TYR112HIS 166 166 VAL PHE VON HIPPEL-LINDAU SYNDROME VHL - VAL166PHE 188 188 LEU VAL VON HIPPEL-LINDAU SYNDROME ERYTHROCYTOSIS - FAMILIAL - 2 - INCLUDED;; PHEOCHROMOCYTOMA - INCLUDED VHL - LEU188VAL 64 64 ARG PRO PHEOCHROMOCYTOMA VHL - ARG64PRO 63 63 LEU PRO PHEOCHROMOCYTOMA VHL - LEU63PRO 112 112 TYR ASN VON HIPPEL-LINDAU SYNDROME VHL - TYR112ASN 163 163 LEU PRO RENAL CELL CARCINOMA WITH PARANEOPLASTIC ERYTHROCYTOSIS VHL - LEU163PRO 200 200 ARG TRP POLYCYTHEMIA - CHUVASH TYPE VHL - ARG200TRP 81 81 PRO SER VON HIPPEL-LINDAU SYNDROME VHL - PRO81SER 130 130 VAL LEU ERYTHROCYTOSIS - FAMILIAL - 2 VHL - VAL130LEU 126 126 ASP TYR ERYTHROCYTOSIS - FAMILIAL - 2 VHL - ASP126TYR 192 192 PRO SER ERYTHROCYTOSIS - FAMILIAL - 2 VHL - PRO192SER 191 191 HIS ASP ERYTHROCYTOSIS - FAMILIAL - 2 VHL - HIS191ASP 84 84 VAL LEU VON HIPPEL-LINDAU SYNDROME VHL - VAL84LEU 93 93 GLY SER PHEOCHROMOCYTOMA VHL - GLY93SER 164 164 GLN ARG VON HIPPEL-LINDAU SYNDROME VHL - GLN164ARG 98 98 ARG TRP VITAMIN K-DEPENDENT CLOTTING FACTORS - COMBINED DEFICIENCY OF - 2 VKORC1 - ARG98TRP 29 29 VAL LEU WARFARIN RESISTANCE VKORC1 - VAL29LEU 45 45 VAL ALA WARFARIN RESISTANCE VKORC1 - VAL45ALA 58 58 ARG GLY WARFARIN RESISTANCE VKORC1 - ARG58GLY 128 128 LEU ARG WARFARIN RESISTANCE VKORC1 - LEU128ARG 36 36 ASP TYR WARFARIN RESISTANCE VKORC1 - ASP36TYR 5345 5345 GLN ARG MACULAR DEGENERATION - AGE-RELATED - 1 - SUSCEPTIBILITY TO HMCN1 - GLN5345ARG 30 30 LEU PRO ARTHROGRYPOSIS - RENAL DYSFUNCTION - AND CHOLESTASIS 1 VPS33B - LEU30PRO 976 976 LEU PHE DEAFNESS - AUTOSOMAL DOMINANT 4 MYH14 - LEU976PHE 726 726 ARG SER DEAFNESS - AUTOSOMAL DOMINANT 4 MYH14 - ARG726SER 376 376 GLY CYS DEAFNESS - AUTOSOMAL DOMINANT 4 MYH14 - GLY376CYS 120 120 SER LEU DEAFNESS - AUTOSOMAL DOMINANT 4 MYH14 - SER120LEU 45 45 ARG TRP OCCULT MACULAR DYSTROPHY RP1L1 - ARG45TRP 960 960 TRP ARG OCCULT MACULAR DYSTROPHY RP1L1 - TRP960ARG 107 107 ASN ILE ASTHMA SUSCEPTIBILITY 2 NPSR1 - ASN107ILE 44 44 TRP ARG BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY CYP4V2 - TRP44ARG 111 111 ILE THR BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY CYP4V2 - ILE111THR 508 508 ARG HIS BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY CYP4V2 - ARG508HIS 61 61 GLY SER BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY CYP4V2 - GLY61SER 361 361 GLY GLU GAZE PALSY - FAMILIAL HORIZONTAL - WITH PROGRESSIVE SCOLIOSIS ROBO3 - GLY361GLU 703 703 ARG PRO GAZE PALSY - FAMILIAL HORIZONTAL - WITH PROGRESSIVE SCOLIOSIS ROBO3 - ARG703PRO 705 705 SER PRO GAZE PALSY - FAMILIAL HORIZONTAL - WITH PROGRESSIVE SCOLIOSIS ROBO3 - SER705PRO 319 319 GLU LYS GAZE PALSY - FAMILIAL HORIZONTAL - WITH PROGRESSIVE SCOLIOSIS ROBO3 - GLU319LYS 5 5 LEU PRO GAZE PALSY - FAMILIAL HORIZONTAL - WITH PROGRESSIVE SCOLIOSIS ROBO3 - LEU5PRO 66 66 ILE LEU GAZE PALSY - FAMILIAL HORIZONTAL - WITH PROGRESSIVE SCOLIOSIS ROBO3 - ILE66LEU 245 245 ARG TRP GAZE PALSY - FAMILIAL HORIZONTAL - WITH PROGRESSIVE SCOLIOSIS ROBO3 - ARG245TRP 356 356 CYS ARG GNATHODIAPHYSEAL DYSPLASIA ANO5 - CYS356ARG 356 356 CYS GLY GNATHODIAPHYSEAL DYSPLASIA ANO5 - CYS356GLY 231 231 GLY VAL MUSCULAR DYSTROPHY - LIMB-GIRDLE - TYPE 2L ANO5 - GLY231VAL 758 758 ARG CYS MIYOSHI MUSCULAR DYSTROPHY 3 ANO5 - ARG758CYS 98 98 ARG TRP NEONATAL ADRENOLEUKODYSTROPHY REFSUM DISEASE - INFANTILE FORM - INCLUDED PEX26 - ARG98TRP 89 89 GLY ARG ZELLWEGER SYNDROME PEX26 - GLY89ARG 1 1 MET THR REFSUM DISEASE - INFANTILE FORM PEX26 - MET1THR 45 45 LEU PRO REFSUM DISEASE - INFANTILE FORM PEX26 - LEU45PRO 1 1 MET LYS CORNELIA DE LANGE SYNDROME 1 NIPBL - MET1LYS 2430 2430 TYR CYS CORNELIA DE LANGE SYNDROME 1 NIPBL - TYR2430CYS 1246 1246 ALA GLY CORNELIA DE LANGE SYNDROME 1 NIPBL - ALA1246GLY 99 99 LEU PRO VITAMIN D HYDROXYLATION-DEFICIENT RICKETS - TYPE 1B CYP2R1 - LEU99PRO 74 74 GLY ASP SPONDYLOCHEIRODYSPLASIA - EHLERS-DANLOS SYNDROME-LIKE SLC39A13 - GLY74ASP 118 118 GLY ASP CONGENITAL DISORDER OF GLYCOSYLATION - TYPE Id ALG3 - GLY118ASP 171 171 ARG GLN CONGENITAL DISORDER OF GLYCOSYLATION - TYPE Id ALG3 - ARG171GLN 71 71 TRP ARG CONGENITAL DISORDER OF GLYCOSYLATION - TYPE Id ALG3 - TRP71ARG 157 157 MET LYS CONGENITAL DISORDER OF GLYCOSYLATION - TYPE Id ALG3 - MET157LYS 163 163 SER ARG RETINAL DEGENERATION - LATE-ONSET - AUTOSOMAL DOMINANT C1QTNF5 - SER163ARG 309 309 TYR CYS PONTOCEREBELLAR HYPOPLASIA TYPE 2B TSEN2 - TYR309CYS 58 58 ARG TRP PONTOCEREBELLAR HYPOPLASIA TYPE 2C TSEN34 - ARG58TRP 307 307 ALA SER PONTOCEREBELLAR HYPOPLASIA TYPE 2A PONTOCEREBELLAR HYPOPLASIA TYPE 4 - INCLUDED TSEN54 - ALA307SER 307 307 ALA SER PONTOCEREBELLAR HYPOPLASIA TYPE 4 TSEN54 - ALA307SER/SER93PRO 576 576 PHE LEU PYRUVATE DEHYDROGENASE E2 DEFICIENCY DLAT - PHE576LEU 251 251 GLU GLY TRANSPOSITION OF THE GREAT ARTERIES - DEXTRO-LOOPED 1 MED13L - GLU251GLY 1872 1872 ARG HIS TRANSPOSITION OF THE GREAT ARTERIES - DEXTRO-LOOPED 1 MED13L - ARG1872HIS 2023 2023 ASP GLY TRANSPOSITION OF THE GREAT ARTERIES - DEXTRO-LOOPED 1 MED13L - ASP2023GLY 713 713 GLU LYS DOPAMINE RECEPTOR D2 - REDUCED BRAIN DENSITY OF ANKK1 - GLU713LYS 21 21 LEU PRO TRICHOTHIODYSTROPHY - COMPLEMENTATION GROUP A GTF2H5 - LEU21PRO 610 610 ALA THR PYRUVATE CARBOXYLASE DEFICIENCY PC - ALA610THR 743 743 MET ILE PYRUVATE CARBOXYLASE DEFICIENCY PC - MET743ILE 145 145 VAL ALA PYRUVATE CARBOXYLASE DEFICIENCY PC - VAL145ALA 451 451 ARG CYS PYRUVATE CARBOXYLASE DEFICIENCY PC - ARG451CYS 156 156 ARG GLN PYRUVATE CARBOXYLASE DEFICIENCY PC - ARG156GLN 583 583 ARG LEU PYRUVATE CARBOXYLASE DEFICIENCY PC - ARG583LEU 295 295 TYR HIS GLUTARIC ACIDEMIA I GCDH - TYR295HIS 421 421 ALA VAL GLUTARIC ACIDEMIA I GCDH - ALA421VAL 416 416 THR ILE GLUTARIC ACIDEMIA I GCDH - THR416ILE 402 402 ARG TRP GLUTARIC ACIDEMIA I GCDH - ARG402TRP 365 365 GLU LYS GLUTARIC ACIDEMIA I GCDH - GLU365LYS 293 293 ALA THR GLUTARIC ACIDEMIA I GCDH - ALA293THR 400 400 VAL MET GLUTARIC ACIDEMIA I GCDH - VAL400MET 227 227 ARG PRO GLUTARIC ACIDEMIA I GCDH - ARG227PRO 286 286 MET THR LEUKODYSTROPHY - HYPOMYELINATING - 2 GJC2 - MET286THR 90 90 PRO SER LEUKODYSTROPHY - HYPOMYELINATING - 2 GJC2 - PRO90SER 272 272 TYR ASP LEUKODYSTROPHY - HYPOMYELINATING - 2 GJC2 - TYR272ASP 33 33 ILE MET SPASTIC PARAPLEGIA 44 GJC2 - ILE33MET 48 48 SER LEU LYMPHEDEMA - HEREDITARY - IC GJC2 - SER48LEU 260 260 ARG CYS LYMPHEDEMA - HEREDITARY - IC GJC2 - ARG260CYS 182 182 ARG HIS MYOCLONIC EPILEPSY - JUVENILE - SUSCEPTIBILITY TO - 1 EFHC1 - ARG182HIS 229 229 PHE LEU MYOCLONIC EPILEPSY - JUVENILE - SUSCEPTIBILITY TO - 1 EFHC1 - PHE229LEU 210 210 ASP ASN MYOCLONIC EPILEPSY - JUVENILE - SUSCEPTIBILITY TO - 1 EFHC1 - ASP210ASN 253 253 ASP TYR MYOCLONIC EPILEPSY - JUVENILE - SUSCEPTIBILITY TO - 1 EFHC1 - ASP253TYR 221 221 ARG HIS MYOCLONIC EPILEPSY - JUVENILE - SUSCEPTIBILITY TO - 1 EFHC1 - PRO77THR AND ARG221HIS 77 77 PRO THR MYOCLONIC EPILEPSY - JUVENILE - SUSCEPTIBILITY TO - 1 EFHC1 - PRO77THR AND ARG221HIS 174 174 ILE VAL EPILEPSY - JUVENILE ABSENCE - SUSCEPTIBILITY TO - 1 EFHC1 - ILE174VAL 259 259 CYS TYR EPILEPSY - JUVENILE ABSENCE - SUSCEPTIBILITY TO - 1 EFHC1 - CYS259TYR 55 55 MET VAL DIABETES MELLITUS - INSULIN-DEPENDENT - 5 SUMO4 - MET55VAL 226 226 TYR CYS LEBER CONGENITAL AMAUROSIS 13 RDH12 - TYR226CYS 49 49 THR MET LEBER CONGENITAL AMAUROSIS 13 RDH12 - THR49MET 151 151 HIS ASN LEBER CONGENITAL AMAUROSIS 13 RDH12 - HIS151ASN 230 230 PRO ALA LEBER CONGENITAL AMAUROSIS 13 RDH12 - PRO230ALA 151 151 HIS ASP LEBER CONGENITAL AMAUROSIS 13 RDH12 - HIS151ASP 99 99 LEU ILE LEBER CONGENITAL AMAUROSIS 13 RDH12 - LEU99ILE 175 175 SER PRO LEBER CONGENITAL AMAUROSIS 13 RDH12 - SER175PRO 51 51 ILE ASN LEBER CONGENITAL AMAUROSIS 13 RDH12 - ILE51ASN 155 155 THR ILE LEBER CONGENITAL AMAUROSIS 13 RDH12 - THR155ILE 126 126 ALA VAL RETINITIS PIGMENTOSA 53 RDH12 - ALA126VAL 169 169 GLY ALA BARDET-BIEDL SYNDROME 3 BARDET-BIEDL SYNDROME 1 - MODIFIER OF - INCLUDED ARL6 - 859G-C - GLY169ALA 31 31 THR MET BARDET-BIEDL SYNDROME 3 ARL6 - THR31MET 170 170 LEU TRP BARDET-BIEDL SYNDROME 3 ARL6 - LEU170TRP 31 31 THR ARG BARDET-BIEDL SYNDROME 3 ARL6 - THR31ARG 89 89 ARG VAL RETINITIS PIGMENTOSA 55 ARL6 - ARG89VAL 203 203 ALA PRO OBESITY - VARIATION IN PPARBC1B - ALA203PRO 1028 1028 ILE VAL CHARGE SYNDROME CHD7 - ILE1028VAL 1257 1257 LEU ARG CHARGE SYNDROME CHD7 - LEU1257ARG 2319 2319 ARG SER CHARGE SYNDROME CHD7 - ARG2319SER 2108 2108 GLY ARG CHARGE SYNDROME CHD7 - GLY2108ARG 834 834 SER PHE CHARGE SYNDROME HYPOGONADOTROPIC HYPOGONADISM - INCLUDED CHD7 - SER834PHE 55 55 HIS ARG KALLMANN SYNDROME 5 CHD7 - HIS55ARG 173 173 ASP ASN HARTNUP DISORDER SLC6A19 - ASP173ASN 443 443 VAL ASP JOUBERT SYNDROME 3 AHI1 - VAL443ASP 723 723 ARG GLN JOUBERT SYNDROME 3 AHI1 - ARG723GLN 283 283 CYS TYR MUSCULAR DYSTROPHY - LIMB-GIRDLE - TYPE 2C SGCG - CYS283TYR 263 263 GLU LYS MUSCULAR DYSTROPHY - LIMB-GIRDLE - TYPE 2C SGCG - GLU263LYS 403 403 LEU PRO HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS - FAMILIAL - 3 UNC13D - LEU403PRO 857 857 PHE CYS HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS - FAMILIAL - 3 UNC13D - PHE857CYS 94 94 TRP ARG ATP SYNTHASE DEFICIENCY - NUCLEAR-ENCODED ATPAF2 - TRP94ARG 626 626 GLN HIS CONE-ROD DYSTROPHY 5 PITPNM3 - GLN626HIS 79 79 ARG GLN JOUBERT SYNDROME 8 ARL13B - ARG79GLN 200 200 ARG CYS JOUBERT SYNDROME 8 ARL13B - ARG200CYS 649 649 ARG TRP BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES FREM1 - ARG649TRP 1440 1440 GLY SER BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES FREM1 - GLY1440SER 1974 1974 GLU LYS FRASER SYNDROME FREM2 - GLU1974LYS 1972 1972 GLU LYS FRASER SYNDROME FREM2 - GLU1972LYS 80 80 LYS ARG SEVERE COMBINED IMMUNODEFICIENCY - AUTOSOMAL RECESSIVE - T CELL-NEGATIVE - B CELL-NEGATIVE - NK CELL-NEGATIVE - DUE TO ADENOSINE DEAMINASE DEFICIENCY ADA - LYS80ARG 101 101 ARG TRP SEVERE COMBINED IMMUNODEFICIENCY - AUTOSOMAL RECESSIVE - T CELL-NEGATIVE - B CELL-NEGATIVE - NK CELL-NEGATIVE - DUE TO ADENOSINE DEAMINASE DEFICIENCY ADA - ARG101TRP 101 101 ARG GLN SEVERE COMBINED IMMUNODEFICIENCY - AUTOSOMAL RECESSIVE - T CELL-NEGATIVE - B CELL-NEGATIVE - NK CELL-NEGATIVE - DUE TO ADENOSINE DEAMINASE DEFICIENCY ADA - ARG101GLN 211 211 ARG HIS SEVERE COMBINED IMMUNODEFICIENCY - AUTOSOMAL RECESSIVE - T CELL-NEGATIVE - B CELL-NEGATIVE - NK CELL-NEGATIVE - DUE TO ADENOSINE DEAMINASE DEFICIENCY ADA - ARG211HIS 304 304 LEU ARG SEVERE COMBINED IMMUNODEFICIENCY - AUTOSOMAL RECESSIVE - T CELL-NEGATIVE - B CELL-NEGATIVE - NK CELL-NEGATIVE - DUE TO ADENOSINE DEAMINASE DEFICIENCY ADA - LEU304ARG 329 329 ALA VAL SEVERE COMBINED IMMUNODEFICIENCY - AUTOSOMAL RECESSIVE - T CELL-NEGATIVE - B CELL-NEGATIVE - NK CELL-NEGATIVE - DUE TO ADENOSINE DEAMINASE DEFICIENCY ADA - ALA329VAL 297 297 PRO GLN ADENOSINE DEAMINASE DEFICIENCY - PARTIAL ADA - PRO297GLN 76 76 ARG TRP ADENOSINE DEAMINASE DEFICIENCY - PARTIAL ADA - ARG76TRP 149 149 ARG GLN ADENOSINE DEAMINASE DEFICIENCY - PARTIAL ADA - ARG149GLN 274 274 PRO LEU ADENOSINE DEAMINASE DEFICIENCY - PARTIAL ADA - PRO274LEU 107 107 LEU PRO SEVERE COMBINED IMMUNODEFICIENCY - AUTOSOMAL RECESSIVE - T CELL-NEGATIVE - B CELL-NEGATIVE - NK CELL-NEGATIVE - DUE TO ADENOSINE DEAMINASE DEFICIENCY ADA - LEU107PRO 211 211 ARG CYS ADENOSINE DEAMINASE DEFICIENCY - PARTIAL ADA - ARG211CYS 215 215 ALA THR ADENOSINE DEAMINASE DEFICIENCY - PARTIAL ADA - ALA215THR 216 216 GLY ARG SEVERE COMBINED IMMUNODEFICIENCY - AUTOSOMAL RECESSIVE - T CELL-NEGATIVE - B CELL-NEGATIVE - NK CELL-NEGATIVE - DUE TO ADENOSINE DEAMINASE DEFICIENCY ADA - GLY216ARG 156 156 ARG CYS SEVERE COMBINED IMMUNODEFICIENCY - AUTOSOMAL RECESSIVE - T CELL-NEGATIVE - B CELL-NEGATIVE - NK CELL-NEGATIVE - DUE TO ADENOSINE DEAMINASE DEFICIENCY ADA - ARG156CYS 291 291 SER LEU SEVERE COMBINED IMMUNODEFICIENCY - AUTOSOMAL RECESSIVE - T CELL-NEGATIVE - B CELL-NEGATIVE - NK CELL-NEGATIVE - DUE TO ADENOSINE DEAMINASE DEFICIENCY ADA - SER291LEU 8 8 ASP ASN ADENOSINE DEAMINASE 2 ALLOZYME ADA - ASP8ASN 74 74 GLY VAL SEVERE COMBINED IMMUNODEFICIENCY - AUTOSOMAL RECESSIVE - T CELL-NEGATIVE - B CELL-NEGATIVE - NK CELL-NEGATIVE - DUE TO ADENOSINE DEAMINASE DEFICIENCY ADA - GLY74VAL 152 152 LEU MET ADENOSINE DEAMINASE DEFICIENCY - PARTIAL ADA - LEU152MET 233 233 THR ILE ADENOSINE DEAMINASE DEFICIENCY - PARTIAL ADA - THR233ILE 97 97 TYR CYS SEVERE COMBINED IMMUNODEFICIENCY - AUTOSOMAL RECESSIVE - T CELL-NEGATIVE - B CELL-NEGATIVE - NK CELL-NEGATIVE - DUE TO ADENOSINE DEAMINASE DEFICIENCY - B CELL-NEGATIVE - NK CELL-NEGATIVE - DUE TO ADA DEFICIENCY ADA - TYR97CYS AND LEU106VAL 106 106 LEU VAL SEVERE COMBINED IMMUNODEFICIENCY - AUTOSOMAL RECESSIVE - T CELL-NEGATIVE - B CELL-NEGATIVE - NK CELL-NEGATIVE - DUE TO ADENOSINE DEAMINASE DEFICIENCY - B CELL-NEGATIVE - NK CELL-NEGATIVE - DUE TO ADA DEFICIENCY ADA - TYR97CYS AND LEU106VAL 156 156 ARG HIS SEVERE COMBINED IMMUNODEFICIENCY - AUTOSOMAL RECESSIVE - T CELL-NEGATIVE - B CELL-NEGATIVE - NK CELL-NEGATIVE - DUE TO ADENOSINE DEAMINASE DEFICIENCY - LATE ONSET ADA - ARG156HIS 124 124 ARG CYS NIGHT BLINDNESS - CONGENITAL STATIONARY - TYPE 2B CABP4 - ARG124CYS 25 25 ALA THR WEILL-MARCHESANI SYNDROME - AUTOSOMAL RECESSIVE ADAMTS10 - ALA25THR 518 518 GLY ASP WEILL-MARCHESANI SYNDROME - AUTOSOMAL RECESSIVE ADAMTS10 - GLY518ASP 700 700 GLY CYS WEILL-MARCHESANI SYNDROME - AUTOSOMAL RECESSIVE ADAMTS10 - GLY700CYS 1441 1441 ARG GLY PARKINSON DISEASE 8 - AUTOSOMAL DOMINANT LRRK2 - ARG1441GLY 1699 1699 TYR CYS PARKINSON DISEASE 8 - AUTOSOMAL DOMINANT LRRK2 - TYR1699CYS 1441 1441 ARG CYS PARKINSON DISEASE 8 - AUTOSOMAL DOMINANT LRRK2 - ARG1441CYS 1122 1122 ILE VAL PARKINSON DISEASE 8 - AUTOSOMAL DOMINANT LRRK2 - ILE1122VAL 2019 2019 GLY SER PARKINSON DISEASE 8 - AUTOSOMAL DOMINANT LRRK2 - GLY2019SER 2020 2020 ILE THR PARKINSON DISEASE 8 - AUTOSOMAL DOMINANT LRRK2 - ILE2020THR 1441 1441 ARG HIS PARKINSON DISEASE 8 - AUTOSOMAL DOMINANT LRRK2 - ARG1441HIS 2385 2385 GLY ARG PARKINSON DISEASE 8 - SUSCEPTIBILITY TO LRRK2 - GLY2385ARG - (dbSNP rs34778348) 325 325 MET ARG 3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY MCCC1 - MET325ARG 385 385 ARG SER 3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY MCCC1 - ARG385SER 532 532 ASP HIS 3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY MCCC1 - ASP532HIS 437 437 LEU PRO 3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY MCCC1 - LEU437PRO 535 535 SER PHE 3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY MCCC1 - SER535PHE 460 460 ILE MET 3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY MCCC1 - ILE460MET 99 99 GLU GLN 3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY MCCC2 - GLU99GLN 155 155 ARG GLN 3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY MCCC2 - ARG155GLN 310 310 PRO ARG 3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY MCCC2 - PRO310ARG 167 167 CYS ARG 3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY MCCC2 - CYS167ARG 268 268 ARG THR 3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY MCCC2 - ARG268THR 437 437 ILE VAL 3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY MCCC2 - ILE437VAL 190 190 HIS ARG 3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY MCCC2 - HIS190ARG 280 280 ASP TYR 3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY MCCC2 - ASP280TYR 57 57 GLY ARG SCIANNA BLOOD GROUP SYSTEM - SC:-1 -2 ERMAP - GLY57ARG 60 60 PRO ALA RADIN BLOOD GROUP ANTIGEN ERMAP - PRO60ALA 47 47 GLU LYS SCIANNA BLOOD GROUP SYSTEM - STAR ANTIGEN ERMAP - GLU47LYS 237 237 LEU PRO HOLOCARBOXYLASE SYNTHETASE DEFICIENCY HLCS - LEU237PRO 571 571 ASP ASN HOLOCARBOXYLASE SYNTHETASE DEFICIENCY HLCS - ASP571ASN 508 508 ARG TRP HOLOCARBOXYLASE SYNTHETASE DEFICIENCY HLCS - ARG508TRP 581 581 GLY SER HOLOCARBOXYLASE SYNTHETASE DEFICIENCY HLCS - GLY581SER 550 550 VAL MET HOLOCARBOXYLASE SYNTHETASE DEFICIENCY HLCS - VAL550MET 216 216 LEU ARG HOLOCARBOXYLASE SYNTHETASE DEFICIENCY HLCS - LEU216ARG 538 538 ARG CYS BIOTINIDASE DEFICIENCY BTD - ARG538CYS 34 34 GLY SER BIOTINIDASE DEFICIENCY BTD - GLY34SER 444 444 ASP HIS BIOTINIDASE DEFICIENCY BTD - ALA171THR AND ASP444HIS 171 171 ALA THR BIOTINIDASE DEFICIENCY BTD - ALA171THR AND ASP444HIS 252 252 ASP GLY BIOTINIDASE DEFICIENCY BTD - ASP252GLY 456 456 GLN HIS BIOTINIDASE DEFICIENCY BTD - GLN456HIS 489 489 ASN THR BIOTINIDASE DEFICIENCY BTD - ASN489THR 403 403 PHE VAL BIOTINIDASE DEFICIENCY BTD - PHE403VAL AND ASP444HIS 444 444 ASP HIS BIOTINIDASE DEFICIENCY BTD - PHE403VAL AND ASP444HIS 79 79 ARG CYS BIOTINIDASE DEFICIENCY BTD - ARG79CYS 532 532 THR MET BIOTINIDASE DEFICIENCY BTD - THR532MET 9 9 ALA VAL PAROXYSMAL NONKINESIGENIC DYSKINESIA 1 MR1 - ALA9VAL 7 7 ALA VAL PAROXYSMAL NONKINESIGENIC DYSKINESIA 1 MR1 - ALA7VAL 33 33 ALA PRO PAROXYSMAL NONKINESIGENIC DYSKINESIA 1 MR1 - ALA33PRO 12 12 ALA THR PSEUDOFOLLICULITIS BARBAE - SUSCEPTIBILITY TO KRT75 - ALA12THR 105 105 TRP ARG METHYLMALONIC ACIDURIA - mut(0) TYPE MUT - TRP105ARG 378 378 ALA GLU METHYLMALONIC ACIDURIA - mut(0) TYPE MUT - ALA378GLU 93 93 ARG HIS METHYLMALONIC ACIDURIA - mut(0) TYPE MUT - ARG93HIS 717 717 GLY VAL METHYLMALONIC ACIDURIA - mut(-) TYPE MUT - GLY717VAL 623 623 GLY ARG METHYLMALONIC ACIDURIA - mut(0) TYPE MUT - GLY623ARG 703 703 GLY ARG METHYLMALONIC ACIDURIA - mut(0) TYPE MUT - GLY703ARG 219 219 ASN TYR METHYLMALONIC ACIDURIA - mut(0) TYPE MUT - ASN219TYR 108 108 ARG CYS METHYLMALONIC ACIDURIA - mut(0) TYPE MUT - ARG108CYS 215 215 GLY SER METHYLMALONIC ACIDURIA - mut(0) TYPE MUT - GLY215SER 195 195 PRO LEU NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY PNPLA2 - PRO195LEU 184 185 GLN HIS WILMS TUMOR - SUSCEPTIBILITY TO POU6F2 - GLN184HIS 20 20 ALA GLU SPASTIC PARAPLEGIA 31 - AUTOSOMAL DOMINANT REEP1 - ALA20GLU 121 121 ASN ASP POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA FLVCR1 - ASN121ASP 241 241 ALA THR POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA FLVCR1 - ALA241THR 192 192 CYS ARG POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA FLVCR1 - CYS192ARG 444 444 VAL ALA D-2-@HYDROXYGLUTARIC ACIDURIA 1 D2HGDH - VAL444ALA 147 147 ILE SER D-2-@HYDROXYGLUTARIC ACIDURIA 1 D2HGDH - ILE147SER 439 439 ASN ASP D-2-@HYDROXYGLUTARIC ACIDURIA 1 D2HGDH - ASN439ASP 375 375 ASP TYR D-2-@HYDROXYGLUTARIC ACIDURIA 1 D2HGDH - ASP375TYR 299 299 ARG TRP GLUTARIC ACIDURIA III C7ORF10 - ARG299TRP 144 144 MET VAL TRICHOTHIODYSTROPHY - NONPHOTOSENSITIVE 1 C7ORF11 - MET144VAL 1 1 MET ILE GLUCOCORTICOID DEFICIENCY 2 MRAP - MET1ILE 188 188 ILE PHE WOOLLY HAIR - AUTOSOMAL RECESSIVE 1 P2RY5 - ILE188PHE 146 146 GLY ARG HYPOTRICHOSIS - LOCALIZED - AUTOSOMAL RECESSIVE 3 P2RY5 - GLY146ARG 189 189 GLU LYS WOOLLY HAIR - AUTOSOMAL RECESSIVE 1 HYPOTRICHOSIS - LOCALIZED - AUTOSOMAL RECESSIVE 3 - INCLUDED P2RY5 - GLU189LYS 55 55 CYS TYR HYPERTRIGLYCERIDEMIA - SUSCEPTIBILITY TO LIPI - CYS55TYR 1051 1052 GLY CYS MARTSOLF SYNDROME RAB3GAP2 - GLY1051CYS 1235 1235 GLU VAL MICROCEPHALY - PRIMARY AUTOSOMAL RECESSIVE - 6 CENPJ - GLU1235VAL 44 44 VAL ASP LEGIUS SYNDROME SPRED1 - VAL44ASP 106 106 SER PRO 17-@ALPHA-HYDROXYLASE/17 -20-LYASE DEFICIENCY - COMBINED COMPLETE CYP17A1 - SER106PRO 342 342 PRO THR 17-@ALPHA-HYDROXYLASE/17 -20-LYASE DEFICIENCY - COMBINED PARTIAL CYP17A1 - PRO342THR 96 96 ARG TRP 17-@ALPHA-HYDROXYLASE/17 -20-LYASE DEFICIENCY - COMBINED COMPLETE CYP17A1 - ARG96TRP 347 347 ARG HIS 17 -20-@LYASE DEFICIENCY - ISOLATED CYP17A1 - ARG347HIS 358 358 ARG GLN 17 -20-@LYASE DEFICIENCY - ISOLATED CYP17A1 - ARG358GLN 93 93 PHE CYS 17-@ALPHA-HYDROXYLASE/17 -20-LYASE DEFICIENCY - COMBINED COMPLETE CYP17A1 - PHE93CYS 114 114 PHE VAL 17-@ALPHA-HYDROXYLASE/17 -20-LYASE DEFICIENCY - COMBINED COMPLETE CYP17A1 - PHE114VAL 116 116 ASP VAL 17-@ALPHA-HYDROXYLASE/17 -20-LYASE DEFICIENCY - COMBINED PARTIAL CYP17A1 - ASP116VAL 347 347 ARG CYS 17-@ALPHA-HYDROXYLASE/17 -20-LYASE DEFICIENCY - COMBINED PARTIAL CYP17A1 - ARG347CYS 362 362 ARG CYS 17-@ALPHA-HYDROXYLASE/17 -20-LYASE DEFICIENCY - COMBINED COMPLETE CYP17A1 - ARG362CYS 406 406 TRP ARG 17-@ALPHA-HYDROXYLASE/17 -20-LYASE DEFICIENCY - COMBINED COMPLETE CYP17A1 - TRP406ARG 329 329 TYR ASP 17-@ALPHA-HYDROXYLASE/17 -20-LYASE DEFICIENCY - COMBINED COMPLETE CYP17A1 - TYR329ASP 428 428 PRO LEU 17-@ALPHA-HYDROXYLASE/17 -20-LYASE DEFICIENCY - COMBINED COMPLETE CYP17A1 - PRO428LEU 201 201 TYR ASN 17-@ALPHA-HYDROXYLASE/17 -20-LYASE DEFICIENCY - COMBINED PARTIAL CYP17A1 - TYR201ASN 96 96 ARG GLN 17-@ALPHA-HYDROXYLASE/17 -20-LYASE DEFICIENCY - COMBINED COMPLETE CYP17A1 - ARG96GLN 125 125 ARG GLN 17-@ALPHA-HYDROXYLASE/17 -20-LYASE DEFICIENCY - COMBINED COMPLETE CYP17A1 - ARG125GLN 416 416 ARG HIS 17-@ALPHA-HYDROXYLASE/17 -20-LYASE DEFICIENCY - COMBINED COMPLETE CYP17A1 - ARG416HIS 453 453 PHE SER 17-@ALPHA-HYDROXYLASE/17 -20-LYASE DEFICIENCY - COMBINED PARTIAL CYP17A1 - PHE453SER 206 206 PRO LEU EPILEPTIC ENCEPHALOPATHY - EARLY INFANTILE - 3 SLC25A22 - PRO206LEU 236 236 GLY TRP EPILEPTIC ENCEPHALOPATHY - EARLY INFANTILE - 3 SLC25A22 - GLY236TRP 622 622 PRO LEU COLORECTAL CANCER - HEREDITARY NONPOLYPOSIS - TYPE 1 MSH2 - PRO622LEU 639 639 HIS TYR COLORECTAL CANCER - HEREDITARY NONPOLYPOSIS - TYPE 1 MSH2 - HIS639TYR 524 524 ARG PRO COLORECTAL CANCER - HEREDITARY NONPOLYPOSIS - TYPE 1 MSH2 - ARG524PRO 322 322 GLY ASP MSH2 POLYMORPHISM MSH2 - GLY322ASP 636 636 ALA PRO COLORECTAL CANCER - HEREDITARY - NONPOLYPOSIS - TYPE 1 MSH2 - ALA636PRO 100 114 ASP GLU DOPAMINE BETA-HYDROXYLASE DEFICIENCY DBH - ASP100GLU 87 101 VAL MET DOPAMINE BETA-HYDROXYLASE DEFICIENCY DBH - VAL87MET AND ASP331ASN 331 345 ASP ASN DOPAMINE BETA-HYDROXYLASE DEFICIENCY DBH - VAL87MET AND ASP331ASN 5 40 GLN ARG INTRINSIC FACTOR DEFICIENCY - CONGENITAL - SUSCEPTIBILITY TO GIF - GLN5ARG 46 81 SER LEU INTRINSIC FACTOR DEFICIENCY GIF - SER46LEU 539 539 TRP GLY ROBERTS SYNDROME ESCO2 - TRP539GLY 114 176 ALA ASN ICHTHYOSIS - CONGENITAL - AUTOSOMAL RECESSIVE - ICHTHYIN-RELATED ICHTHYIN - ALA114ASN 176 238 ALA ASP ICHTHYOSIS - CONGENITAL - AUTOSOMAL RECESSIVE - ICHTHYIN-RELATED ICHTHYIN - ALA176ASP 41 41 ILE THR CHARCOT-MARIE-TOOTH DISEASE - TYPE 4J FIG4 - ILE41THR 53 53 ASP TYR AMYOTROPHIC LATERAL SCLEROSIS 11 FIG4 - ASP53TYR 153 153 TYR HIS PREECLAMPSIA/ECLAMPSIA 4 STOX1 - TYR153HIS 608 608 GLU ASP PREECLAMPSIA/ECLAMPSIA 4 STOX1 - GLU608ASP 160 160 ALA VAL COCKAYNE SYNDROME - TYPE A ERCC8 - ALA160VAL 205 205 ALA PRO COCKAYNE SYNDROME - TYPE A ERCC8 - ALA205PRO 1095 1095 PRO ARG COCKAYNE SYNDROME - TYPE B ERCC6 - PRO1095ARG 987 987 LEU PRO CEREBROOCULOFACIOSKELETAL SYNDROME ERCC6 - LEU987PRO 1103 1103 LYS ARG FLECK CORNEAL DYSTROPHY PIKFYVE - LYS1103ARG 127 127 TYR CYS DEAFNESS - AUTOSOMAL RECESSIVE 67 LHFPL5 - TYR127CYS 165 165 THR MET DEAFNESS - AUTOSOMAL RECESSIVE 67 LHFPL5 - THR165MET 88 88 LYS ASN THYROID CARCINOMA - HURTHLE CELL NDUFA13 - LYS88ASN 206 206 ARG THR HISTIDINEMIA HAL - ARG206THR 208 208 ARG LEU HISTIDINEMIA HAL - ARG208LEU 259 259 PRO LEU HISTIDINEMIA HAL - PRO259LEU 322 322 ARG PRO HISTIDINEMIA HAL - ARG322PRO 71 71 HIS LEU ALPHA-MANNOSIDOSIS - TYPE II MAN2B1 - HIS71LEU 750 750 ARG TRP ALPHA-MANNOSIDOSIS - TYPE II MAN2B1 - ARG750TRP 356 356 PRO ARG ALPHA-MANNOSIDOSIS - TYPE I MAN2B1 - PRO356ARG 505 505 SER PRO BETA-MANNOSIDOSIS MANBA - SER505PRO 107 107 ARG HIS VITAMIN D HYDROXYLATION-DEFICIENT RICKETS - TYPE 1A CYP27B1 - ARG107HIS 125 125 GLY GLU VITAMIN D HYDROXYLATION-DEFICIENT RICKETS - TYPE 1A CYP27B1 - GLY125GLU 335 335 ARG PRO VITAMIN D HYDROXYLATION-DEFICIENT RICKETS - TYPE 1A CYP27B1 - ARG335PRO 382 382 PRO SER VITAMIN D HYDROXYLATION-DEFICIENT RICKETS - TYPE 1A CYP27B1 - PRO382SER 321 321 THR ARG VITAMIN D HYDROXYLATION-DEFICIENT RICKETS - TYPE 1A CYP27B1 - THR321ARG 409 409 THR ILE VITAMIN D HYDROXYLATION-DEFICIENT RICKETS - TYPE 1A CYP27B1 - THR409ILE 389 389 ARG HIS VITAMIN D HYDROXYLATION-DEFICIENT RICKETS - TYPE 1A CYP27B1 - ARG389HIS 389 389 ARG GLY VITAMIN D HYDROXYLATION-DEFICIENT RICKETS - TYPE 1A CYP27B1 - ARG389GLY 343 343 LEU PHE VITAMIN D HYDROXYLATION-DEFICIENT RICKETS - TYPE 1A CYP27B1 - LEU343PHE 189 189 GLU GLY VITAMIN D HYDROXYLATION-DEFICIENT RICKETS - TYPE 1A CYP27B1 - GLU189GLY 148 148 ASP TYR FRONTOTEMPORAL DEMENTIA - CHROMOSOME 3-LINKED CHMP2B - ASP148TYR 206 206 GLN HIS AMYOTROPHIC LATERAL SCLEROSIS - CHMP2B-RELATED CHMP2B - GLN206HIS 81 81 PHE LEU DYSTONIA 6 - TORSION THAP1 - PHE81LEU 89 89 LYS ARG DYSTONIA 6 - TORSION THAP1 - LYS89ARG 9 9 GLY CYS DYSTONIA 6 - TORSION THAP1 - GLY9CYS 315 315 PRO ALA SJOGREN-LARSSON SYNDROME ALDH3A2 - 3-BP DEL/21-BP INS - ALA314GLY - PRO315ALA 314 314 ALA GLY SJOGREN-LARSSON SYNDROME ALDH3A2 - 3-BP DEL/21-BP INS - ALA314GLY - PRO315ALA 214 214 CYS TYR SJOGREN-LARSSON SYNDROME ALDH3A2 - CYS214TYR 315 315 PRO SER SJOGREN-LARSSON SYNDROME ALDH3A2 - PRO315SER 266 266 LYS ASN SJOGREN-LARSSON SYNDROME ALDH3A2 - LYS266ASN 386 386 ASN SER SJOGREN-LARSSON SYNDROME ALDH3A2 - ASN386SER 613 613 ARG TRP VLCAD DEFICIENCY ACADVL - ARG613TRP 382 382 LYS GLN VLCAD DEFICIENCY ACADVL - LYS382GLN 401 401 GLY ASP VLCAD DEFICIENCY ACADVL - GLY401ASP 410 410 ARG HIS VLCAD DEFICIENCY ACADVL - ARG410HIS 65 65 PRO LEU VLCAD DEFICIENCY ACADVL - PRO65LEU AND LYS247GLN 247 247 LYS GLN VLCAD DEFICIENCY ACADVL - PRO65LEU AND LYS247GLN 458 458 PHE LEU VLCAD DEFICIENCY ACADVL - PHE458LEU 416 416 ALA THR VLCAD DEFICIENCY ACADVL - ALA416THR 450 450 ARG HIS VLCAD DEFICIENCY ACADVL - ARG450HIS 303 303 GLN LYS LCAD DEFICIENCY ACADL - GLN303LYS 1464 1464 HIS PRO 3@M SYNDROME CUL7 - HIS1464PRO 302 302 PRO LEU L-2-HYDROXYGLUTARIC ACIDURIA L2HGDH - PRO302LEU 55 55 GLY ASP L-2-HYDROXYGLUTARIC ACIDURIA L2HGDH - GLY55ASP 98 98 HIS ARG L-2-HYDROXYGLUTARIC ACIDURIA L2HGDH - HIS98ARG 98 98 GLN GLN ANEMIA - SIDEROBLASTIC - PYRIDOXINE-REFRACTORY - AUTOSOMAL RECESSIVE GLRX5 - GLN98GLN 284 284 ARG GLN ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 PVRL4 - ARG284GLN 185 185 THR MET ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 PVRL4 - THR185MET 693 693 ARG TRP HYDATIDIFORM MOLE - RECURRENT NLRP7 - ARG693TRP 693 693 ARG PRO HYDATIDIFORM MOLE - RECURRENT NLRP7 - ARG693PRO 913 913 ASN SER HYDATIDIFORM MOLE - RECURRENT NLRP7 - ASN913SER 693 693 ARG GLN HYDATIDIFORM MOLE - RECURRENT NLRP7 - ARG693GLN 398 398 LEU ARG HYDATIDIFORM MOLE - RECURRENT NLRP7 - LEU398ARG 651 651 PRO SER HYDATIDIFORM MOLE - RECURRENT NLRP7 - PRO651SER 658 658 ASP GLY GLAUCOMA 1 - OPEN ANGLE - G WRD36 - ASP658GLY 355 355 ASN SER GLAUCOMA 1 - OPEN ANGLE - G WRD36 - ASN355SER 449 449 ALA THR GLAUCOMA 1 - OPEN ANGLE - G WRD36 - ALA449THR 529 529 ARG GLN GLAUCOMA 1 - OPEN ANGLE - G WRD36 - ARG529GLN 160 160 TYR CYS TYROSINEMIA - TYPE III HPD - TYR160CYS 335 335 ILE MET TYROSINEMIA - TYPE III HPD - ILE335MET 33 33 ALA THR HAWKINSINURIA HPD - ALA33THR 674 674 ARG HIS MUCOPOLYSACCHARIDOSIS TYPE IIIB NAGLU - ARG674HIS 643 643 ARG HIS MUCOPOLYSACCHARIDOSIS TYPE IIIB NAGLU - ARG643HIS 643 643 ARG CYS MUCOPOLYSACCHARIDOSIS TYPE IIIB NAGLU - ARG643CYS 521 521 PRO LEU MUCOPOLYSACCHARIDOSIS TYPE IIIB NAGLU - PRO521LEU 565 565 ARG TRP MUCOPOLYSACCHARIDOSIS TYPE IIIB NAGLU - ARG565TRP 565 565 ARG PRO MUCOPOLYSACCHARIDOSIS TYPE IIIB NAGLU - ARG565PRO 48 48 PHE LEU MUCOPOLYSACCHARIDOSIS TYPE IIIB NAGLU - PHE48LEU 314 314 PHE LEU MUCOPOLYSACCHARIDOSIS TYPE IIIB NAGLU - PHE314LEU 482 482 ARG TRP MUCOPOLYSACCHARIDOSIS TYPE IIIB NAGLU - ARG482TRP 234 234 ARG CYS MUCOPOLYSACCHARIDOSIS TYPE IIIB NAGLU - ARG234CYS 176 203 ALA THR LIPOPROTEIN LIPASE DEFICIENCY LPL - ALA176THR 188 215 GLY GLU LIPOPROTEIN LIPASE DEFICIENCY LPL - GLY188GLU 244 271 SER THR LIPOPROTEIN LIPASE DEFICIENCY LPL - SER244THR 207 234 PRO LEU LIPOPROTEIN LIPASE DEFICIENCY LPL - PRO207LEU 194 221 ILE THR LIPOPROTEIN LIPASE DEFICIENCY LPL - ILE194THR 243 270 ARG HIS LIPOPROTEIN LIPASE DEFICIENCY LPL - ARG243HIS 142 169 GLY GLU LIPOPROTEIN LIPASE DEFICIENCY LPL - GLY142GLU 156 183 ASP GLY LIPOPROTEIN LIPASE DEFICIENCY LPL - ASP156GLY 204 231 ASP GLU LIPOPROTEIN LIPASE DEFICIENCY LPL - ASP204GLU 250 277 ASP ASN LIPOPROTEIN LIPASE DEFICIENCY LPL - ASP250ASN 86 113 TRP ARG LIPOPROTEIN LIPASE DEFICIENCY LPL - TRP86ARG 334 361 ALA THR LIPOPROTEIN LIPASE DEFICIENCY LPL - ALA334THR 172 199 SER CYS LIPOPROTEIN LIPASE DEFICIENCY LPL - SER172CYS 75 102 ARG SER LIPOPROTEIN LIPASE DEFICIENCY LPL - ARG75SER 195 222 GLY GLU LIPOPROTEIN LIPASE DEFICIENCY LPL - GLY195GLU 180 207 ASP GLU LIPOPROTEIN LIPASE DEFICIENCY LPL - ASP180GLU 243 270 ARG CYS LIPOPROTEIN LIPASE DEFICIENCY LPL - ARG243CYS 291 318 ASN SER COMBINED HYPERLIPIDEMIA - FAMILIAL LPL - ASN291SER 365 392 LEU VAL LIPOPROTEIN LIPASE DEFICIENCY LPL - LEU365VAL 9 36 ASP ASN COMBINED HYPERLIPIDEMIA - FAMILIAL LPL - ASP9ASN 418 445 CYS TYR LIPOPROTEIN LIPASE DEFICIENCY LPL - CYS418TYR 225 252 ILE THR LIPOPROTEIN LIPASE DEFICIENCY LPL - ILE225THR 239 266 CYS TRP LIPOPROTEIN LIPASE DEFICIENCY LPL - CYS239TRP 132 132 ARG CYS PYRUVATE KINASE DEFICIENCY PKLR - ARG132CYS 353 353 THR MET PYRUVATE KINASE DEFICIENCY PKLR - THR353MET 384 384 THR MET PYRUVATE KINASE DEFICIENCY PKLR - THR384MET 421 421 GLN LYS PYRUVATE KINASE DEFICIENCY PKLR - GLN421LYS 479 479 ARG HIS PYRUVATE KINASE DEFICIENCY - AMISH TYPE PKLR - ARG479HIS 510 510 ARG GLN PYRUVATE KINASE DEFICIENCY PKLR - ARG510GLN 37 37 GLY GLN ADENOSINE TRIPHOSPHATE - ELEVATED - OF ERYTHROCYTES PKLR - GLY37GLN 486 486 ARG TRP PYRUVATE KINASE DEFICIENCY PKLR - ARG486TRP 130 130 SER TYR PYRUVATE KINASE DEFICIENCY PKLR - SER130TYR 278 278 MET VAL PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY ACOX1 - MET278VAL 178 178 GLY CYS PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY ACOX1 - GLY178CYS 309 309 GLN ARG PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY ACOX1 - GLN309ARG 425 425 HIS TYR NEPHRONOPHTHISIS 9 NEK8 - HIS425TYR 111 111 ALA THR SKIN/HAIR/EYE PIGMENTATION 4 - FAIR/DARK SKIN SLC24A5 - ALA111THR 116 116 ARG TRP PORPHYRIA - ACUTE INTERMITTENT HMBS - ARG116TRP 167 167 ARG GLN PORPHYRIA - ACUTE INTERMITTENT HMBS - ARG167GLN 173 173 ARG GLN PORPHYRIA - ACUTE INTERMITTENT HMBS - ARG173GLN 149 149 ARG GLN PORPHYRIA - ACUTE INTERMITTENT HMBS - ARG149GLN 245 245 LEU ARG PORPHYRIA - ACUTE INTERMITTENT HMBS - LEU245ARG 167 167 ARG TRP PORPHYRIA - ACUTE INTERMITTENT HMBS - ARG167TRP 167 167 ARG LEU PORPHYRIA - ACUTE INTERMITTENT HMBS - ARG167LEU 26 26 ARG HIS PORPHYRIA - ACUTE INTERMITTENT HMBS - ARG26HIS 31 31 ALA THR PORPHYRIA - ACUTE INTERMITTENT HMBS - ALA31THR 34 34 GLN LYS PORPHYRIA - ACUTE INTERMITTENT HMBS - GLN34LYS 55 55 ALA SER PORPHYRIA - ACUTE INTERMITTENT HMBS - ALA55SER 111 111 GLY ARG PORPHYRIA - ACUTE INTERMITTENT HMBS - GLY111ARG 177 177 LEU ARG PORPHYRIA - ACUTE INTERMITTENT HMBS - LEU177ARG 201 201 ARG TRP PORPHYRIA - ACUTE INTERMITTENT HMBS - ARG201TRP 223 223 GLU LYS PORPHYRIA - ACUTE INTERMITTENT HMBS - GLU223LYS 247 247 CYS ARG PORPHYRIA - ACUTE INTERMITTENT HMBS - CYS247ARG 250 250 GLU LYS PORPHYRIA - ACUTE INTERMITTENT HMBS - GLU250LYS 252 252 ALA THR PORPHYRIA - ACUTE INTERMITTENT HMBS - ALA252THR 252 252 ALA VAL PORPHYRIA - ACUTE INTERMITTENT HMBS - ALA252VAL 256 256 HIS ASN PORPHYRIA - ACUTE INTERMITTENT HMBS - HIS256ASN 216 216 GLY ASP PORPHYRIA - ACUTE INTERMITTENT HMBS - GLY216ASP 1 1 MET VAL PORPHYRIA - ACUTE INTERMITTENT - NONERYTHROID VARIANT HMBS - MET1VAL 81 81 LEU PRO PORPHYRIA - ACUTE INTERMITTENT HMBS - LEU81PRO 297 247 TYR CYS COENZYME Q10 DEFICIENCY COQ2 - TYR297CYS 197 147 ARG HIS COENZYME Q10 DEFICIENCY COQ2 - ARG197HIS 228 178 ASN SER COENZYME Q10 DEFICIENCY COQ2 - ASN228SER 146 96 SER ASN COENZYME Q10 DEFICIENCY COQ2 - SER146ASN 353 353 ARG LEU HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA - HEREDITARY SLC34A3 - ARG353LEU 413 413 ALA GLU HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA - HEREDITARY SLC34A3 - ALA413GLU 282 282 PRO PRO HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA - HEREDITARY SLC34A3 - PRO282PRO 196 196 GLY ARG HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA - HEREDITARY SLC34A3 - GLY196ARG 468 468 ARG TRP HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA - HEREDITARY SLC34A3 - ARG468TRP 252 252 GLN GLN HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA - HEREDITARY SLC34A3 - GLN252GLN 116 116 LEU PRO METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA - cblC TYPE MMACHC - LEU116PRO 161 161 ARG GLN METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA - cblC TYPE MMACHC - ARG161GLN 1098 1098 GLN PRO SUCRASE-ISOMALTASE DEFICIENCY - CONGENITAL SI - GLN1098PRO 340 340 LEU PRO SUCRASE-ISOMALTASE DEFICIENCY - CONGENITAL SI - LEU340PRO 117 117 GLN ARG SUCRASE-ISOMALTASE DEFICIENCY - CONGENITAL SI - GLN117ARG 620 620 LEU PRO SUCRASE-ISOMALTASE DEFICIENCY - CONGENITAL SI - LEU620PRO 1229 1229 CYS TYR SUCRASE-ISOMALTASE DEFICIENCY - CONGENITAL SI - CYS1229TYR 1745 1745 PHE CYS SUCRASE-ISOMALTASE DEFICIENCY - CONGENITAL SI - PHE1745CYS 577 577 VAL GLY SUCRASE-ISOMALTASE DEFICIENCY - CONGENITAL SI - VAL577GLY 1073 1073 GLY ASP SUCRASE-ISOMALTASE DEFICIENCY - CONGENITAL SI - GLY1073ASP 283 283 ARG GLN GLOBOZOOSPERMIA SPATA16 - ARG283GLN 442 442 GLY ARG IRON-REFRACTORY IRON DEFICIENCY ANEMIA TMPRSS6 - GLY442ARG 521 521 ASP ASN IRON-REFRACTORY IRON DEFICIENCY ANEMIA TMPRSS6 - ASP521ASN 118 118 ALA ASP IRON-REFRACTORY IRON DEFICIENCY ANEMIA TMPRSS6 - ALA118ASP 522 522 GLU LYS IRON-REFRACTORY IRON DEFICIENCY ANEMIA TMPRSS6 - GLU522LYS 492 492 CYS TRP BARDET-BIEDL SYNDROME 13 MKS1 - CYS492TRP 376 376 GLN PRO MECKEL SYNDROME - TYPE 3 TMEM67 - GLN376PRO 513 513 TYR CYS JOUBERT SYNDROME 6 COACH SYNDROME - INCLUDED TMEM67 - TYR513CYS 545 545 GLY GLU JOUBERT SYNDROME 6 TMEM67 - GLY545GLU - 2341G-A 320 320 SER CYS BARDET-BIEDL SYNDROME 14 - MODIFIER OF TMEM67 - SER320CYS 833 833 ILE THR COACH SYNDROME JOUBERT SYNDROME 6 - INCLUDED TMEM67 - ILE833THR 590 590 PHE SER COACH SYNDROME TMEM67 - PHE590SER 821 821 GLY SER NEPHRONOPHTHISIS 11 TMEM67 - GLY821SER 615 615 CYS ARG NEPHRONOPHTHISIS 11 JOUBERT SYNDROME 6 - INCLUDED TMEM67 - CYS615ARG 290 290 TRP LEU NEPHRONOPHTHISIS 11 TMEM67 - TRP290LEU 821 821 GLY ARG NEPHRONOPHTHISIS 11 JOUBERT SYNDROME 6 - INCLUDED TMEM67 - GLY821ARG 252 252 MET THR JOUBERT SYNDROME 6 TMEM67 - MET252THR 20 20 GLY ASP HYPOMAGNESEMIA - RENAL - WITH OCULAR INVOLVEMENT CLDN19 - GLY20ASP 57 57 GLN GLU HYPOMAGNESEMIA - RENAL - WITH OCULAR INVOLVEMENT CLDN19 - GLN57GLU 90 90 LEU PRO HYPOMAGNESEMIA - RENAL - WITH OCULAR INVOLVEMENT CLDN19 - LEU90PRO 409 409 GLY ASP SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY ALDH5A1 - GLY409ASP 279 279 ARG GLN TREACHER COLLINS SYNDROME 3 POLR1C - ARG279GLN 279 279 ARG TRP TREACHER COLLINS SYNDROME 3 POLR1C - ARG279TRP 312 312 THR MET AUTOIMMUNE DISEASE - SUSCEPTIBILITY TO - 6 SIAE - THR312MET 196 196 CYS PHE AUTOIMMUNE DISEASE - SUSCEPTIBILITY TO - 6 SIAE - CYS196PHE 89 89 MET VAL AUTOIMMUNE DISEASE - SUSCEPTIBILITY TO - 6 SIAE - MET89VAL (dbSNP rs78778622) 404 404 PHE SER AUTOIMMUNE DISEASE - SUSCEPTIBILITY TO - 6 SIAE - PHE404SER 239 239 VAL ILE CAUDAL REGRESSION SYNDROME VANGL1 - VAL239ILE 274 274 ARG GLN NEURAL TUBE DEFECTS VANGL1 - ARG274GLN 328 328 MET THR NEURAL TUBE DEFECTS VANGL1 - MET328THR 7 7 TRP CYS JOUBERT SYNDROME 5 CEP290 - TRP7CYS 34 34 ARG PRO BARDET-BIEDL SYNDROME 10 C12ORF58 - ARG34PRO 311 311 SER ALA BARDET-BIEDL SYNDROME 10 C12ORF58 - SER311ALA 11 11 VAL GLY BARDET-BIEDL SYNDROME 10 C12ORF58 - VAL11GLY 147 147 HIS ARG NEUROPATHY - HEREDITARY SENSORY - WITH SPASTIC PARAPLEGIA - AUTOSOMAL RECESSIVE CCT5 - HIS147ARG 335 335 ALA VAL CHARCOT-MARIE-TOOTH DISEASE - AXONAL - TYPE 2B2 MED25 - ALA335VAL 755 755 ARG GLN CORNEAL ENDOTHELIAL DYSTROPHY 2 SLC4A11 - ARG755GLN 489 489 SER LEU CORNEAL ENDOTHELIAL DYSTROPHY 2 SLC4A11 - SER489LEU 464 464 GLY ASP CORNEAL ENDOTHELIAL DYSTROPHY 2 SLC4A11 - GLY464ASP 869 869 ARG CYS CORNEAL ENDOTHELIAL DYSTROPHY 2 SLC4A11 - ARG869CYS 869 869 ARG HIS CORNEAL ENDOTHELIAL DYSTROPHY 2 SLC4A11 - ARG869HIS 488 488 ARG LYS CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS SLC4A11 - ARG488LYS 843 843 LEU PRO CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS SLC4A11 - LEU843PRO 213 213 SER PRO CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS SLC4A11 - SER213PRO 856 856 MET VAL CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS SLC4A11 - MET856VAL 709 709 GLY GLU CORNEAL DYSTROPHY - FUCHS ENDOTHELIAL - 4 SLC4A11 - GLY709GLU 754 754 THR MET CORNEAL DYSTROPHY - FUCHS ENDOTHELIAL - 4 SLC4A11 - THR754MET 399 399 GLU LYS CORNEAL DYSTROPHY - FUCHS ENDOTHELIAL - 4 SLC4A11 - GLU399LYS 183 183 ARG TRP DEAFNESS - AUTOSOMAL RECESSIVE 59 DFNB59 - ARG183TRP 54 54 THR ILE DEAFNESS - AUTOSOMAL RECESSIVE 59 DFNB59 - THR54ILE 10 10 ALA SER DEAFNESS - MITOCHONDRIAL - MODIFIER OF TRMU - 28G-T - ALA10SER 77 77 TYR HIS LIVER FAILURE - ACUTE INFANTILE TRMU - TYR77HIS 272 272 GLY ASP LIVER FAILURE - ACUTE INFANTILE TRMU - GLY272ASP 1 1 MET LYS LIVER FAILURE - ACUTE INFANTILE TRMU - MET1LYS 191 191 GLY VAL SPASTIC PARAPLEGIA 33 - AUTOSOMAL DOMINANT ZFYVE27 - GLY191VAL 341 341 ALA GLU HYPERPHOSPHATASIA WITH MENTAL RETARDATION PIGV - ALA341GLU 385 385 HIS PRO HYPERPHOSPHATASIA WITH MENTAL RETARDATION PIGV - HIS385PRO 256 256 GLN LYS HYPERPHOSPHATASIA WITH MENTAL RETARDATION PIGV - GLN256LYS 341 341 ALA VAL HYPERPHOSPHATASIA WITH MENTAL RETARDATION PIGV - ALA341VAL 91 91 ARG TRP IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT 1 ORAI1 - ARG91TRP 180 180 GLY ALA MYASTHENIA - LIMB-GIRDLE - FAMILIAL DOK7 - GLY180ALA 1 1 MET ILE COLORECTAL CANCER - SUSCEPTIBILITY TO - 1 GALNT12 - MET1ILE 491 491 THR MET COLORECTAL CANCER - SUSCEPTIBILITY TO - 1 GALNT12 - THR491MET 61 61 ARG HIS SYSTEMIC LUPUS ERYTHMATOSUS - ASSOCIATION WITH BANK1 - ARG61HIS 393 393 GLY GLU PETERS-PLUS SYNDROME B3GALTL - GLY393GLU 177 177 ALA THR AICARDI-GOUTIERES SYNDROME 2 RNASEH2B - ALA177THR 185 185 VAL GLY AICARDI-GOUTIERES SYNDROME 2 RNASEH2B - VAL185GLY 69 69 ARG TRP AICARDI-GOUTIERES SYNDROME 3 RNASEH2C - ARG69TRP 143 143 LYS ILE AICARDI-GOUTIERES SYNDROME 3 RNASEH2C - LYS143ILE 87 87 ARG GLN MACULAR DEGENERATION - AGE-RELATED - 6 RAXL1 - ARG87GLN 137 137 GLY ARG CONE-ROD DYSTROPHY 11 RAXL1 - GLY137ARG 311 311 PRO LEU MUCOPOLYSACCHARIDOSIS TYPE IIIC HGSNAT - PRO311LEU 510 510 MET LYS MUCOPOLYSACCHARIDOSIS TYPE IIIC HGSNAT - MET510LYS 344 344 ARG CYS MUCOPOLYSACCHARIDOSIS TYPE IIIC HGSNAT - ARG344CYS 518 518 SER PHE MUCOPOLYSACCHARIDOSIS TYPE IIIC HGSNAT - SER518PHE 1495 1495 LYS GLU TUMORAL CALCINOSIS - FAMILIAL - NORMOPHOSPHATEMIC SAMD9 - LYS1495GLU 382 382 PHE LEU CRANIOLENTICULOSUTURAL DYSPLASIA SEC23A - PHE382LEU 109 109 GLU LYS ANEMIA - DYSERYTHROPOIETIC CONGENITAL - TYPE II SEC23B - GLU109LYS 14 14 ARG TRP ANEMIA - DYSERYTHROPOIETIC CONGENITAL - TYPE II SEC23B - ARG14TRP 530 530 ARG TRP ANEMIA - DYSERYTHROPOIETIC CONGENITAL - TYPE II SEC23B - ARG530TRP 504 504 GLY ARG KUFOR-RAKEB SYNDROME ATP13A2 - GLY504ARG 53 53 LEU PRO LEUKODYSTROPHY - HYPOMYELINATING - 5 FAM126A - LEU53PRO 322 322 ILE MET METHIONINE ADENOSYLTRANSFERASE DEFICIENCY - AUTOSOMAL RECESSIVE MAT1A - ILE322MET 55 55 ALA ASP METHIONINE ADENOSYLTRANSFERASE DEFICIENCY - AUTOSOMAL RECESSIVE MAT1A - ALA55ASP 357 357 PRO LEU METHIONINE ADENOSYLTRANSFERASE DEFICIENCY - AUTOSOMAL RECESSIVE MAT1A - PRO357LEU 305 305 LEU PRO METHIONINE ADENOSYLTRANSFERASE DEFICIENCY - AUTOSOMAL RECESSIVE MAT1A - LEU305PRO 264 264 ARG HIS METHIONINE ADENOSYLTRANSFERASE DEFICIENCY - AUTOSOMAL DOMINANT MAT1A - ARG264HIS 264 264 ARG CYS METHIONINE ADENOSYLTRANSFERASE DEFICIENCY - AUTOSOMAL RECESSIVE MAT1A - ARG264CYS 336 336 GLY ARG METHIONINE ADENOSYLTRANSFERASE DEFICIENCY - AUTOSOMAL RECESSIVE MAT1A - GLY336ARG 382 382 SER LEU COENZYME Q10 DEFICIENCY PDSS2 - SER382LEU 65 65 GLN ARG ANONYCHIA CONGENITA RSPO4 - GLN65ARG 107 107 CYS ARG ANONYCHIA CONGENITA RSPO4 - CYS107ARG 118 118 CYS TYR ANONYCHIA CONGENITA RSPO4 - CYS118TYR 73 73 CYS TYR ANONYCHIA CONGENITA RSPO4 - CYS73TYR 370 370 ALA SER CORONARY ARTERY SPASM 3 - SUSCEPTIBILITY TO ARHGAP9 - ALA370SER 2 2 CYS TYR RETINITIS PIGMENTOSA 36 PRCD - CYS2TYR 448 448 ARG HIS ADRENAL HYPERPLASIA - CONGENITAL - DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY CYP11B1 - ARG448HIS 318 318 THR MET ADRENAL HYPERPLASIA - CONGENITAL - DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY CYP11B1 - THR318MET 374 374 ARG GLN ADRENAL HYPERPLASIA - CONGENITAL - DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY CYP11B1 - ARG374GLN 133 133 ASN HIS ADRENAL HYPERPLASIA - CONGENITAL - DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY CYP11B1 - ASN133HIS 319 319 THR MET ADRENAL HYPERPLASIA - CONGENITAL - DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY CYP11B1 - THR319MET 42 42 PRO SER ADRENAL HYPERPLASIA - CONGENITAL - DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY CYP11B1 - PRO42SER 94 94 PRO LEU ADRENAL HYPERPLASIA - CONGENITAL - DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY CYP11B1 - PRO94LEU 368 368 ALA ASP ADRENAL HYPERPLASIA - CONGENITAL - DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY CYP11B1 - ALA368ASP 571 590 CYS SER FACTOR XII (WASHINGTON D.C.) F12 - CYS571SER 353 372 ARG PRO FACTOR XII (LOCARNO) F12 - ARG353PRO 34 53 TYR CYS FACTOR XII (TENRI) F12 - TYR34CYS 309 328 THR LYS ANGIOEDEMA - HEREDITARY - TYPE III F12 - THR309LYS 309 328 THR ARG ANGIOEDEMA - HEREDITARY - TYPE III F12 - THR309ARG 626 626 VAL PHE SPASTIC PARAPLEGIA 8 - AUTOSOMAL DOMINANT KIAA0196 - VAL626PHE 619 619 LEU PHE SPASTIC PARAPLEGIA 8 - AUTOSOMAL DOMINANT KIAA0196 - LEU619PHE 471 471 ASN ASP SPASTIC PARAPLEGIA 8 - AUTOSOMAL DOMINANT KIAA0196 - ASN471ASP 39 39 ARG PRO GLYCOGEN STORAGE DISEASE VII PFKM - ARG39PRO 543 543 ASP ALA GLYCOGEN STORAGE DISEASE VII PFKM - ASP543ALA 39 39 ARG LEU GLYCOGEN STORAGE DISEASE VII PFKM - ARG39LEU 686 686 TRP CYS GLYCOGEN STORAGE DISEASE VII PFKM - TRP686CYS 289 289 ALA PRO BARDET-BIEDL SYNDROME 12 BBS12 - ALA289PRO 122 122 TYR CYS 3-@HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY HIBCH - TYR122CYS 211 211 ASP GLY HYDROLETHALUS SYNDROME HYLS1 - ASP211GLY 293 293 PRO LEU MICROPHTHALMIA - SYNDROMIC 9 STRA6 - PRO293LEU 655 655 ARG CYS MICROPHTHALMIA - SYNDROMIC 9 STRA6 - ARG655CYS 644 644 THR MET MICROPHTHALMIA - SYNDROMIC 9 STRA6 - THR644MET 90 90 PRO LEU MICROPHTHALMIA - SYNDROMIC 9 STRA6 - PRO90LEU 321 321 THR PRO MICROPHTHALMIA - SYNDROMIC 9 STRA6 - THR321PRO 99 99 CYS SER CONGENITAL DISORDER OF GLYCOSYLATION - TYPE Im TMEM15 - CYS99SER 441 441 TYR SER CONGENITAL DISORDER OF GLYCOSYLATION - TYPE Im TMEM15 - TYR441SER 300 300 THR ALA INFLAMMATORY BOWEL DISEASE 10 - SUSCEPTIBILITY TO ATG16L1 - THR300ALA - (dbSNP rs2241880) 65 65 THR PRO SCHNECKENBECKEN DYSPLASIA SLC35D1 - THR65PRO 187 187 ARG PRO ANEMIA - SIDEROBLASTIC - PYRIDOXINE-REFRACTORY - AUTOSOMAL RECESSIVE SLC25A38 - ARG187PRO 1448 1448 GLY ARG GLYCOGEN STORAGE DISEASE - TYPE IIIa AGL - GLY1448ARG 1147 1147 ARG GLY GLYCOGEN STORAGE DISEASE - TYPE IIIc AGL - ARG1147GLY 430 430 THR ARG PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME FLVCR2 - THR430ARG 398 398 LEU VAL PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME FLVCR2 - LEU398VAL 280 280 PRO ARG PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME FLVCR2 - PRO280ARG 326 326 ALA VAL PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME FLVCR2 - ALA326VAL 129 129 ASP VAL CATARACT - POSTERIOR POLAR - 3 CHMP4B - ASP129VAL 161 161 GLU LYS CATARACT - POSTERIOR POLAR - 3 CHMP4B - GLU161LYS 259 259 TYR ASN VESICOURETERAL REFLUX 3 SOX17 - TYR259ASN 178 178 GLY CYS VESICOURETERAL REFLUX 3 SOX17 - GLY178CYS 355 355 ARG HIS PREMATURE OVARIAN FAILURE 5 NOBOX - ARG355HIS 100 100 ASP ALA PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY PSAT1 - ASP100ALA 615 615 THR PRO JOUBERT SYNDROME 7 RPGRIP1L - THR615PRO 695 695 ALA PRO JOUBERT SYNDROME 7 RPGRIP1L - ALA695PRO 229 229 ALA THR RETINITIS PIGMENTOSA IN CILIOPATHIES - MODIFIER OF RPGRIP1L - ALA229THR 659 659 SER PRO COACH SYNDROME RPGRIP1L - SER659PRO 626 626 LEU VAL LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION DARS2 - LEU626VAL 263 263 ARG GLN LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION DARS2 - ARG263GLN 152 152 CYS PHE LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION DARS2 - CYS152PHE 45 45 SER GLY LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION DARS2 - SER45GLY 179 179 ARG HIS LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION DARS2 - ARG179HIS 613 613 LEU PHE LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION DARS2 - LEU613PHE 626 626 LEU GLN LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION DARS2 - LEU626GLN 52 52 PHE LEU MYOPATHY - LACTIC ACIDOSIS - AND SIDEROBLASTIC ANEMIA 2 YARS2 - PHE52LEU 316 316 ARG GLN GROWTH RETARDATION - DEVELOPMENTAL DELAY - COARSE FACIES - AND EARLY DEATH FTO - ARG316GLN 186 186 SER PRO FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5 INF2 - SER186PRO 218 218 ARG GLN FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5 INF2 - ARG218GLN 218 218 ARG TRP FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5 INF2 - ARG218TRP 214 214 ARG HIS FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5 INF2 - ARG214HIS 42 42 LEU PRO FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5 INF2 - LEU42PRO 35 35 ASP TYR LEUKODYSTROPHY - DYSMYELINATING - WITH SPASTIC PARAPARESIS FA2H - ASP35TYR 253 253 ARG HIS NEUTROPENIA - SEVERE CONGENITAL - AUTOSOMAL RECESSIVE 4 G6PC3 - ARG253HIS 185 185 LEU PRO NEUTROPENIA - SEVERE CONGENITAL - AUTOSOMAL RECESSIVE 4 G6PC3 - LEU185PRO 262 262 GLY ARG NEUTROPENIA - SEVERE CONGENITAL - AUTOSOMAL RECESSIVE 4 G6PC3 - GLY262ARG 116 116 MET VAL DURSUN SYNDROME G6PC3 - MET116VAL 871 871 ILE THR SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME SETBP1 - ILE871THR 868 868 ASP ASN SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME SETBP1 - ASP868ASN 868 868 ASP ALA SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME SETBP1 - ASP868ALA 870 870 GLY ASP SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME SETBP1 - GLY870ASP 870 870 GLY SER SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME SETBP1 - GLY870SER 365 379 GLY ARG RAINE SYNDROME FAM20C - GLY365ARG 374 388 LEU ARG RAINE SYNDROME FAM20C - LEU374ARG 535 549 ARG TRP RAINE SYNDROME FAM20C - ARG535TRP 365 379 GLY GLU RAINE SYNDROME FAM20C - GLY365GLU 336 336 ARG GLN CENTRONUCLEAR MYOPATHY - AUTOSOMAL - MODIFIER OF MTMR14 - ARG336GLN 462 462 TYR CYS CENTRONUCLEAR MYOPATHY - AUTOSOMAL - MODIFIER OF MTMR14 - TYR462CYS 647 647 PHE SER SPINAL MUSCULAR ATROPHY - DISTAL - AUTOSOMAL RECESSIVE - 4 PLEKHG5 - PHE647SER 298 298 MET THR CHARCOT-MARIE-TOOTH DISEASE - TYPE 4H FGD4 - MET298THR 150 265 SER ASN RETINITIS PIGMENTOSA 42 KLHL7 - SER150ASN 153 268 ARG VAL RETINITIS PIGMENTOSA 42 KLHL7 - ARG153VAL 153 268 ARG THR RETINITIS PIGMENTOSA 42 KLHL7 - ARG153THR 310 310 GLY ASP CEROID LIPOFUSCINOSIS - NEURONAL - 7 MFSD8 - GLY310ASP 429 429 GLY ASP CEROID LIPOFUSCINOSIS - NEURONAL - 7 MFSD8 - GLY429ASP 121 121 TYR CYS CEROID LIPOFUSCINOSIS - NEURONAL - 7 MFSD8 - TYR121CYS 412 412 PRO LEU CEROID LIPOFUSCINOSIS - NEURONAL - 7 MFSD8 - PRO412LEU 294 294 THR LYS CEROID LIPOFUSCINOSIS - NEURONAL - 7 MFSD8 - THR294LYS 325 325 ARG TRP DIABETES MELLITUS - NONINSULIN-DEPENDENT - SUSCEPTIBILITY TO SLC30A8 - ARG325TRP 108 108 CYS PHE XERODERMA PIGMENTOSUM - COMPLEMENTATION GROUP A XPA - CYS108PHE 105 105 HIS GLN ASPHYXIATING THORACIC DYSTROPHY 2 IFT80 - HIS105GLN 701 701 ALA PRO ASPHYXIATING THORACIC DYSTROPHY 2 IFT80 - ALA701PRO 72 89 GLY ALA MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) SUCLG1 - GLY72ALA 170 187 PRO ARG MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) SUCLG1 - PRO170ARG 57 57 ARG GLY SEVERE COMBINED IMMUNODEFICIENCY WITH MICROCEPHALY - GROWTH RETARDATION - AND SENSITIVITY TO IONIZING RADIATION NHEJ1 - ARG57GLY 123 123 CYS ARG SEVERE COMBINED IMMUNODEFICIENCY WITH MICROCEPHALY - GROWTH RETARDATION - AND SENSITIVITY TO IONIZING RADIATION NHEJ1 - CYS123ARG 69 69 ALA SER MACULAR DEGENERATION - AGE-RELATED - 8 - SUSCEPTIBILITY TO LOC387715 - ALA69SER 286 286 ARG HIS OVERGROWTH SYNDROME - RNF135-RELATED RNF135 - ARG286HIS 1285 1285 ARG GLN FANCONI ANEMIA - COMPLEMENTATION GROUP I FANCI - ARG1285GLN 481 481 ALA THR ALBINISM - OCULOCUTANEOUS - TYPE II OCA2 - ALA481THR 443 443 VAL ILE ALBINISM - OCULOCUTANEOUS - TYPE II OCA2 - VAL443ILE 743 743 PRO LEU ALBINISM - OCULOCUTANEOUS - TYPE II OCA2 - PRO743LEU 334 334 ALA VAL ALBINISM - OCULOCUTANEOUS - TYPE II OCA2 - ALA334VAL 679 679 TRP CYS ALBINISM - OCULOCUTANEOUS - TYPE II OCA2 - TRP679CYS 489 489 ASN ASP ALBINISM - OCULOCUTANEOUS - TYPE II OCA2 - ASN489ASP 305 305 ARG TRP SKIN/HAIR/EYE PIGMENTATION 1 - BLUE/NONBLUE EYES SKIN/HAIR/EYE PIGMENTATION 1 - BLUE/BROWN EYES - INCLUDED OCA2 - ARG305TRP 419 419 ARG GLN SKIN/HAIR/EYE PIGMENTATION 1 - BLUE/NONBLUE EYES OCA2 - ARG419GLN 394 394 MET ILE ALBINISM - OCULOCUTANEOUS - TYPE II OCA2 - MET394ILE 405 405 LYS ARG HYPER-IgE RECURRENT INFECTION SYNDROME - AUTOSOMAL RECESSIVE DOCK8 - LYS405ARG 49 49 ARG CYS GM1-GANGLIOSIDOSIS - TYPE I GLB1 - ARG49CYS 201 201 ARG CYS GM1-GANGLIOSIDOSIS - TYPE II GLB1 - ARG201CYS 51 51 ILE THR GM1-GANGLIOSIDOSIS - TYPE III GLB1 - ILE51THR 123 123 GLY ARG GM1-GANGLIOSIDOSIS - TYPE I GLB1 - GLY123ARG 316 316 TYR CYS GM1-GANGLIOSIDOSIS - TYPE I GLB1 - TYR316CYS 457 457 ARG GLN GM1-GANGLIOSIDOSIS - TYPE III GLB1 - ARG457GLN 273 273 TRP LEU MUCOPOLYSACCHARIDOSIS TYPE IVB GLB1 - TRP273LEU 482 482 ARG HIS MUCOPOLYSACCHARIDOSIS TYPE IVB GM1-GANGLIOSIDOSIS - TYPE I - INCLUDED GLB1 - ARG482HIS 509 509 TRP CYS MUCOPOLYSACCHARIDOSIS TYPE IVB GLB1 - TRP509CYS 82 82 THR MET GM1-GANGLIOSIDOSIS - TYPE III GLB1 - THR82MET 83 83 TYR HIS MUCOPOLYSACCHARIDOSIS TYPE IVB GLB1 - TYR83HIS 482 482 ARG CYS MUCOPOLYSACCHARIDOSIS TYPE IVB GLB1 - ARG482CYS 208 208 ARG CYS GM1-GANGLIOSIDOSIS - TYPE I GLB1 - ARG208CYS 438 438 GLY GLU MUCOPOLYSACCHARIDOSIS TYPE IVB GLB1 - GLY438GLU 500 500 THR ALA MUCOPOLYSACCHARIDOSIS TYPE IVB GLB1 - THR500ALA 408 408 GLN PRO MUCOPOLYSACCHARIDOSIS TYPE IVB GLB1 - GLN408PRO 68 68 ARG TRP GM1-GANGLIOSIDOSIS - TYPE II GLB1 - ARG68TRP 59 59 ARG HIS GM1-GANGLIOSIDOSIS - TYPE I - WITH CARDIAC INVOLVEMENT GM1-GANGLIOSIDOSIS - TYPE I - INCLUDED GLB1 - ARG59HIS 591 591 TYR ASN GM1-GANGLIOSIDOSIS - TYPE I - WITH CARDIAC INVOLVEMENT GLB1 - TYR591ASN 591 591 TYR CYS GM1-GANGLIOSIDOSIS - TYPE I - WITH CARDIAC INVOLVEMENT GLB1 - TYR591CYS 252 252 ASN ASP CARBONIC ANHYDRASE II VARIANT CA2 - ASN252ASP 17 17 LYS GLU CARBONIC ANHYDRASE II VARIANT CA2 - LYS17GLU 237 237 PRO HIS CARBONIC ANHYDRASE II VARIANT CA2 - PRO237HIS 107 107 HIS TYR OSTEOPETROSIS - AUTOSOMAL RECESSIVE 3 CA2 - HIS107TYR 435 435 HIS TYR ICHTHYOSIS - LAMELLAR - 3 CYP4F22 - HIS435TYR 436 436 HIS ASP ICHTHYOSIS - LAMELLAR - 3 CYP4F22 - HIS436ASP 243 243 ARG HIS ICHTHYOSIS - LAMELLAR - 3 CYP4F22 - ARG243HIS 619 619 ALA VAL MUCOPOLYSACCHARIDOSIS TYPE VII GUSB - ALA619VAL 382 382 ARG CYS MUCOPOLYSACCHARIDOSIS TYPE VII GUSB - ARG382CYS 216 216 ARG TRP MUCOPOLYSACCHARIDOSIS TYPE VII GUSB - ARG216TRP 354 354 ALA VAL MUCOPOLYSACCHARIDOSIS TYPE VII GUSB - ALA354VAL 611 611 ARG TRP MUCOPOLYSACCHARIDOSIS TYPE VII GUSB - ARG611TRP 148 148 PRO SER MUCOPOLYSACCHARIDOSIS TYPE VII GUSB - PRO148SER 495 495 TYR CYS MUCOPOLYSACCHARIDOSIS TYPE VII GUSB - TYR495CYS 176 176 LEU PHE MUCOPOLYSACCHARIDOSIS TYPE VII GUSB - LEU176PHE 350 350 LYS ASN MUCOPOLYSACCHARIDOSIS TYPE VII GUSB - LYS350ASN 577 577 ARG LEU MUCOPOLYSACCHARIDOSIS TYPE VII GUSB - ARG577LEU 627 627 TRP CYS MUCOPOLYSACCHARIDOSIS TYPE VII GUSB - TRP627CYS 37 37 GLU GLN WOLFRAM SYNDROME 2 CISD2 - GLU37GLN 342 342 MET VAL PONTOCEREBELLAR HYPOPLASIA TYPE 6 RARS2 - MET342VAL 12 12 GLN ARG PONTOCEREBELLAR HYPOPLASIA TYPE 6 RARS2 - GLN12ARG 86 86 ASP GLY BOWEN-CONRADI SYNDROME EMG1 - ASP86GLY 137 137 GLY VAL MUCOPOLYSACCHARIDOSIS TYPE VI - INTERMEDIATE ARSB - GLY137VAL 117 117 CYS ARG MUCOPOLYSACCHARIDOSIS TYPE VI - SEVERE ARSB - CYS117ARG 236 236 LEU PRO MUCOPOLYSACCHARIDOSIS TYPE VI - MILD ARSB - LEU236PRO 405 405 CYS TYR MUCOPOLYSACCHARIDOSIS TYPE VI - SEVERE ARSB - CYS405TYR 72 72 LEU GLN MUCOPOLYSACCHARIDOSIS TYPE VI - SEVERE ARSB - 11-BP DEL AND LEU72GLN 95 95 ARG GLN MUCOPOLYSACCHARIDOSIS TYPE VI ARSB - ARG95GLN 210 210 TYR CYS MUCOPOLYSACCHARIDOSIS TYPE VI ARSB - TYR210CYS 393 393 HIS PRO MUCOPOLYSACCHARIDOSIS TYPE VI ARSB - HIS393PRO 273 273 PRO LEU RENAL ADYSPLASIA UPK3A - PRO273LEU 202 202 GLY ASP RENAL ADYSPLASIA UPK3A - GLY202ASP 164 164 GLY SER FRUCTOSE-1 -6-BISPHOSPHATASE DEFICIENCY FBP1 - GLY164SER 177 177 ALA ASP FRUCTOSE-1 -6-BISPHOSPHATASE DEFICIENCY FBP1 - ALA177ASP 194 194 PHE SER FRUCTOSE-1 -6-BISPHOSPHATASE DEFICIENCY FBP1 - PHE194SER 284 284 PRO ARG FRUCTOSE-1 -6-BISPHOSPHATASE DEFICIENCY FBP1 - PRO284ARG 102 102 ASN SER CORNEAL DYSTROPHY - CRYSTALLINE - OF SCHNYDER UBIAD1 - ASN102SER 177 177 GLY ARG CORNEAL DYSTROPHY - CRYSTALLINE - OF SCHNYDER UBIAD1 - GLY177ARG 119 119 ARG GLY CORNEAL DYSTROPHY - CRYSTALLINE - OF SCHNYDER UBIAD1 - ARG119GLY 175 175 THR ILE CORNEAL DYSTROPHY - CRYSTALLINE - OF SCHNYDER UBIAD1 - THR175ILE 232 232 ASN SER CORNEAL DYSTROPHY - CRYSTALLINE - OF SCHNYDER UBIAD1 - ASN232SER 112 112 ASP GLY CORNEAL DYSTROPHY - CRYSTALLINE - OF SCHNYDER UBIAD1 - ASP112GLY 171 171 SER PRO CORNEAL DYSTROPHY - CRYSTALLINE - OF SCHNYDER UBIAD1 - SER171PRO 186 186 GLY ARG CORNEAL DYSTROPHY - CRYSTALLINE - OF SCHNYDER UBIAD1 - GLY186ARG 236 236 ASP GLU CORNEAL DYSTROPHY - CRYSTALLINE - OF SCHNYDER UBIAD1 - ASP236GLU 113 113 ARG SER FOLATE MALABSORPTION - HEREDITARY SLC46A1 - ARG113SER 318 318 SER ARG FOLATE MALABSORPTION - HEREDITARY SLC46A1 - SER318ARG 376 376 ARG TRP FOLATE MALABSORPTION - HEREDITARY SLC46A1 - ARG376TRP 113 113 ARG CYS FOLATE MALABSORPTION - HEREDITARY SLC46A1 - ARG113CYS 591 591 VAL MET POROKERATOSIS - DISSEMINATED SUPERFICIAL ACTINIC - 1 SART3 - VAL591MET 414 414 ARG CYS GARNDER SYNDROME APC - ARG414CYS 1120 1120 GLY GLU GASTRIC CANCER - SOMATIC APC - GLY1120GLU 1395 1395 SER CYS HEPATOBLASTOMA - SOMATIC APC - SER1395CYS 1307 1307 ILE LYS ADENOMATOUS POLYPOSIS COLI - SUSCEPTIBILITY TO BREAST CANCER - SUSCEPTIBILITY TO - INCLUDED APC - ILE1307LYS 1317 1317 GLU GLN ADENOMATOUS POLYPOSIS COLI - ATTENUATED APC - GLU1317GLN 151 151 PHE LEU PERSISTENT TRUNCUS ARTERIOSUS NKX2-6 - PHE151LEU 65 65 LEU PRO MITOCHONDRIAL COMPLEX I DEFICIENCY C6ORF66 - LEU65PRO 280 280 ALA VAL BRUGADA SYNDROME 2 GPD1L - ALA280VAL 83 83 GLU LYS BRUGADA SYNDROME 2 GPD1L - GLU83LYS 124 124 ILE VAL BRUGADA SYNDROME 2 GPD1L - ILE124VAL 273 273 ARG CYS BRUGADA SYNDROME 2 GPD1L - ARG273CYS 67 67 ARG CYS CONGENITAL DISORDER OF GLYCOSYLATION - TYPE In RFT1 - ARG67CYS 50 50 GLY GLU MYOPATHY WITH LACTIC ACIDOSIS - HEREDITARY ISCU - GLY50GLU 259 259 LEU PRO HOMOCYSTINURIA - cblD TYPE - VARIANT 1 C2ORF25 - LEU259PRO 182 182 THR ASN HOMOCYSTINURIA - cblD TYPE - VARIANT 1 C2ORF25 - THR182ASN 249 249 TYR CYS HOMOCYSTINURIA - cblD TYPE - VARIANT 1 C2ORF25 - TYR249CYS 56 56 ASN SER PARKINSON DISEASE 11 GIGYF2 - ASN56SER 457 457 ASN THR PARKINSON DISEASE 11 GIGYF2 - ASN457THR 606 606 ASP GLU PARKINSON DISEASE 11 GIGYF2 - ASP606GLU 278 278 ILE VAL PARKINSON DISEASE 11 GIGYF2 - ILE278VAL 421 421 LYS ARG PARKINSON DISEASE 11 GIGYF2 - LYS421ARG 1122 1122 PRO SER JOUBERT SYNDROME 9 CC2D2A - PRO1122SER 1528 1528 ARG CYS JOUBERT SYNDROME 9 CC2D2A - ARG1528CYS 1116 1116 THR MET COACH SYNDROME CC2D2A - THR1116MET 101 101 ARG TRP THYROID DYSHORMONOGENESIS 4 IYD - ARG101TRP 116 116 ILE THR THYROID DYSHORMONOGENESIS 4 IYD - ILE116THR 220 220 ALA TYR THYROID DYSHORMONOGENESIS 4 IYD - ALA220TYR 358 358 SER LEU ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA - FAMILIAL - 5 TMEM43 - SER358LEU 351 351 LEU PRO ALOPECIA - NEUROLOGIC DEFECTS - AND ENDOCRINOPATHY SYNDROME RBM28 - LEU351PRO 45 45 SER PHE MITOCHONDRIAL COMPLEX III DEFICIENCY UQCRQ - SER45PHE 484 484 MET LEU SKIN/HAIR/EYE PIGMENTATION 10 - BLOND/BROWN HAIR TPCN2 - MET484LEU 734 734 GLY GLU SKIN/HAIR/EYE PIGMENTATION 10 - BLOND/BROWN HAIR TPCN2 - GLY734GLU 197 197 ARG GLN ACETYLATION - SLOW NAT2 - ARG197GLN 114 114 ILE THR ACETYLATION - SLOW NAT2 - ILE114THR 268 268 LYS ARG ACETYLATION - SLOW NAT2 - LYS268ARG 286 286 GLY GLU ACETYLATION - SLOW NAT2 - GLY286GLU 438 374 HIS ASP DIABETES MELLITUS - TRANSIENT NEONATAL - 1 ZFP57 - HIS438ASP 228 164 ARG HIS DIABETES MELLITUS - TRANSIENT NEONATAL - 1 ZFP57 - ARG228HIS 257 193 HIS ASN DIABETES MELLITUS - TRANSIENT NEONATAL - 1 ZFP57 - HIS257ASN 204 204 ASN LYS MUCOPOLYSACCHARIDOSIS TYPE IVA GALNS - ASN204LYS 138 138 ALA VAL MUCOPOLYSACCHARIDOSIS TYPE IVA GALNS - ALA138VAL 386 386 ARG CYS MUCOPOLYSACCHARIDOSIS TYPE IVA GALNS - ARG386CYS 113 113 ILE PHE MUCOPOLYSACCHARIDOSIS TYPE IVA GALNS - ILE113PHE 487 487 ASN SER MUCOPOLYSACCHARIDOSIS TYPE IVA GALNS - ASN487SER 94 94 ARG GLY MUCOPOLYSACCHARIDOSIS TYPE IVA GALNS - ARG94GLY 259 259 ARG GLN MUCOPOLYSACCHARIDOSIS TYPE IVA GALNS - ARG259GLN 301 301 GLY CYS MUCOPOLYSACCHARIDOSIS TYPE IVA GALNS - GLY301CYS 162 162 SER PHE MUCOPOLYSACCHARIDOSIS TYPE IVA GALNS - SER162PHE 69 69 PHE VAL MUCOPOLYSACCHARIDOSIS TYPE IVA GALNS - PHE69VAL 312 312 THR SER MUCOPOLYSACCHARIDOSIS TYPE IVA GALNS - THR312SER 60 60 ASP ASN MUCOPOLYSACCHARIDOSIS TYPE IVA GALNS - ASP60ASN 291 291 ALA THR MUCOPOLYSACCHARIDOSIS TYPE IVA GALNS - ALA291THR 340 340 GLY ASP MUCOPOLYSACCHARIDOSIS TYPE IVA GALNS - GLY340ASP 147 147 PRO LEU GELEOPHYSIC DYSPLASIA ADAMTSL2 - PRO147LEU 113 113 ARG HIS GELEOPHYSIC DYSPLASIA ADAMTSL2 - ARG113HIS 114 114 GLU LYS GELEOPHYSIC DYSPLASIA ADAMTSL2 - GLU114LYS 811 811 GLU ARG GELEOPHYSIC DYSPLASIA ADAMTSL2 - GLU811ARG 281 286 GLN ARG FU1/FU2 POLYMORPHISM FUCA1 - GLN281ARG 405 410 LEU ARG FUCOSIDOSIS FUCA1 - LEU405ARG 402 444 TRP CYS THROMBOPHILIA - HEREDITARY - DUE TO PROTEIN C DEFICIENCY - AUTOSOMAL DOMINANT PROC - TRP402CYS 12 12 ARG TRP THROMBOPHILIA - HEREDITARY - DUE TO PROTEIN C DEFICIENCY - AUTOSOMAL RECESSIVE PROC - ARG12TRP 169 211 ARG TRP THROMBOPHILIA - HEREDITARY - DUE TO PROTEIN C DEFICIENCY - AUTOSOMAL DOMINANT THROMBOPHILIA - HEREDITARY - DUE TO PROTEIN C DEFICIENCY - AUTOSOMAL RECESSIVE - INCLUDED PROC - ARG169TRP 259 301 ALA VAL THROMBOPHILIA - HEREDITARY - DUE TO PROTEIN C DEFICIENCY - AUTOSOMAL RECESSIVE PROC - ALA259VAL 168 210 PRO LEU THROMBOPHILIA - HEREDITARY - DUE TO PROTEIN C DEFICIENCY - AUTOSOMAL RECESSIVE PROC - PRO168LEU 267 309 ALA THR THROMBOPHILIA - HEREDITARY - DUE TO PROTEIN C DEFICIENCY - AUTOSOMAL RECESSIVE PROC - ALA267THR 301 343 GLY SER THROMBOPHILIA - HEREDITARY - DUE TO PROTEIN C DEFICIENCY - AUTOSOMAL RECESSIVE PROC - GLY301SER 20 62 GLU ALA THROMBOPHILIA - HEREDITARY - DUE TO PROTEIN C DEFICIENCY - AUTOSOMAL RECESSIVE PROC - GLU20ALA 34 76 VAL MET THROMBOPHILIA - HEREDITARY - DUE TO PROTEIN C DEFICIENCY - AUTOSOMAL RECESSIVE PROC - VAL34MET 292 334 GLY SER THROMBOPHILIA - HEREDITARY - DUE TO PROTEIN C DEFICIENCY - AUTOSOMAL RECESSIVE PROC - GLY292SER 247 289 PRO LEU THROMBOPHILIA - HEREDITARY - DUE TO PROTEIN C DEFICIENCY - AUTOSOMAL RECESSIVE PROC - PRO247LEU 178 220 ARG TRP THROMBOPHILIA - HEREDITARY - DUE TO PROTEIN C DEFICIENCY - AUTOSOMAL DOMINANT PROC - ARG178TRP 178 220 ARG GLN THROMBOPHILIA - HEREDITARY - DUE TO PROTEIN C DEFICIENCY - AUTOSOMAL DOMINANT PROC - ARG178GLN 230 272 ARG CYS THROMBOPHILIA - HEREDITARY - DUE TO PROTEIN C DEFICIENCY - AUTOSOMAL DOMINANT PROC - ARG230CYS 184 226 GLN HIS THROMBOPHILIA - HEREDITARY - DUE TO PROTEIN C DEFICIENCY - AUTOSOMAL DOMINANT PROC - GLN184HIS 223 265 LEU PHE THROMBOPHILIA - HEREDITARY - DUE TO PROTEIN C DEFICIENCY - AUTOSOMAL RECESSIVE PROC - LEU223PHE 403 445 ILE MET THROMBOPHILIA - HEREDITARY - DUE TO PROTEIN C DEFICIENCY - AUTOSOMAL RECESSIVE PROC - ILE403MET 297 339 VAL MET THROMBOPHILIA - HEREDITARY - DUE TO PROTEIN C DEFICIENCY - AUTOSOMAL DOMINANT PROC - VAL297MET 107 149 HIS PRO THROMBOPHILIA - HEREDITARY - DUE TO PROTEIN C DEFICIENCY - AUTOSOMAL DOMINANT PROC - HIS107PRO 270 312 SER LEU THROMBOPHILIA - HEREDITARY - DUE TO PROTEIN C DEFICIENCY - AUTOSOMAL DOMINANT PROC - SER270LEU 506 534 ARG GLN THROMBOPHILIA DUE TO FACTOR V LEIDEN STROKE - ISCHEMIC - SUSCEPTIBILITY TO - INCLUDED;; BUDD-CHIARI SYNDROME - SUSCEPTIBILITY TO - INCLUDED F5 - ARG506GLN 306 334 ARG GLY FACTOR V HONG KONG F5 - ARG306GLY 306 334 ARG THR THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE F5 - ARG306THR 1702 1730 TYR CYS FACTOR V DEFICIENCY F5 - TYR1702CYS 2074 2102 ARG CYS FACTOR V DEFICIENCY F5 - ARG2074CYS 359 387 ILE THR THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE F5 - ILE359THR 272 272 ARG GLN ENDOCRINE-CEREBROOSTEODYSPLASIA ICK - ARG272GLN 408 408 ARG TRP PHENYLKETONURIA PAH - ARG408TRP 311 311 LEU PRO PHENYLKETONURIA PAH - LEU311PRO 280 280 GLU LYS PHENYLKETONURIA PAH - GLU280LYS 261 261 ARG GLN PHENYLKETONURIA PAH - ARG261GLN 252 252 ARG TRP PHENYLKETONURIA PAH - ARG252TRP 1 1 MET VAL PHENYLKETONURIA HYPERPHENYLALANINEMIA - NON-PKU - INCLUDED PAH - MET1VAL 158 158 ARG GLN PHENYLKETONURIA PAH - ARG158GLN 281 281 PRO LEU PHENYLKETONURIA PAH - PRO281LEU 204 204 TYR CYS PHENYLKETONURIA PAH - TYR204CYS 243 243 ARG GLN PHENYLKETONURIA PAH - ARG243GLN 413 413 ARG PRO PHENYLKETONURIA PAH - ARG413PRO 414 414 TYR CYS HYPERPHENYLALANINEMIA - NON-PKU PAH - TYR414CYS 273 273 SER PHE PHENYLKETONURIA PAH - SER273PHE 255 255 LEU SER PHENYLKETONURIA PAH - LEU255SER 259 259 ALA VAL PHENYLKETONURIA PAH - ALA259VAL 277 277 TYR ASP PHENYLKETONURIA PAH - TYR277ASP 39 39 PHE LEU PHENYLKETONURIA PAH - PHE39LEU 349 349 SER ARG PHENYLKETONURIA PAH - SER349ARG 48 48 LEU SER PHENYLKETONURIA PAH - LEU48SER 221 221 GLU GLY PHENYLKETONURIA PAH - GLU221GLY 408 408 ARG GLN PHENYLKETONURIA PAH - ARG408GLN 299 299 PHE CYS PHENYLKETONURIA PAH - PHE299CYS 349 349 SER PRO PHENYLKETONURIA PAH - SER349PRO 322 322 ALA GLY HYPERPHENYLALANINEMIA - NON-PKU MILD PAH - ALA322GLY 415 415 ASP ASN HYPERPHENYLALANINEMIA - NON-PKU PAH - ASP415ASN 306 306 ILE VAL HYPERPHENYLALANINEMIA - NON-PKU PAH - ILE306VAL 388 388 VAL MET PHENYLKETONURIA PAH - VAL388MET 244 244 PRO LEU PHENYLKETONURIA PAH - PRO244LEU 1 1 MET ILE PHENYLKETONURIA PAH - MET1ILE 333 333 LEU PHE HYPERPHENYLALANINEMIA - NON-PKU PAH - LEU333PHE 390 390 GLU GLY HYPERPHENYLALANINEMIA - NON-PKU PHENYLKETONURIA - INCLUDED PAH - GLU390GLY 98 98 LEU SER HYPERPHENYLALANINEMIA - NON-PKU MILD PAH - LEU98SER 380 380 THR MET HYPERPHENYLALANINEMIA - NON-PKU PAH - THR380MET 46 46 GLY SER PHENYLKETONURIA PAH - GLY46SER 47 47 ALA VAL HYPERPHENYLALANINEMIA - NON-PKU PAH - ALA47VAL 87 87 SER ARG HYPERPHENYLALANINEMIA - NON-PKU PAH - SER87ARG 176 176 ARG LEU HYPERPHENYLALANINEMIA - NON-PKU PAH - ARG176LEU 245 245 VAL ALA HYPERPHENYLALANINEMIA - NON-PKU PAH - VAL245ALA 407 407 PRO LEU PHENYLKETONURIA PAH - PRO407LEU 65 65 ILE THR PHENYLKETONURIA PAH - ILE65THR 76 76 GLU GLY HYPERPHENYLALANINEMIA - NON-PKU PAH - GLU76GLY 229 229 LEU PRO MITOCHONDRIAL COMPLEX I DEFICIENCY C20ORF7 - LEU229PRO 159 159 LEU PHE MITOCHONDRIAL COMPLEX I DEFICIENCY C20ORF7 - LEU159PHE 427 427 GLY SER HYPERPIGMENTATION - CUTANEOUS - WITH HYPERTRICHOSIS - HEPATOSPLENOMEGALY - HEART ANOMALIES - HEARING LOSS - AND HYPOGONADISM SLC29A3 - GLY427SER 437 437 GLY ARG HYPERPIGMENTATION - CUTANEOUS - WITH HYPERTRICHOSIS - HEPATOSPLENOMEGALY - HEART ANOMALIES - HEARING LOSS - AND HYPOGONADISM PIGMENTED HYPERTRICHOSIS AND INSULIN-DEPENDENT DIABETES MELLITUS - INCLUDED SLC29A3 - GLY437ARG 116 116 MET ARG PIGMENTED HYPERTROPHIC DERMATOSIS WITH INSULIN-DEPENDENT DIABETES SLC29A3 - MET116ARG 449 449 THR ARG PIGMENTED HYPERTROPHIC DERMATOSIS WITH INSULIN-DEPENDENT DIABETES SLC29A3 - THR449ARG 55 55 GLY CYS PROTOPORPHYRIA - ERYTHROPOIETIC - AUTOSOMAL RECESSIVE FECH - GLY55CYS 267 267 MET ILE PROTOPORPHYRIA - ERYTHROPOIETIC - AUTOSOMAL RECESSIVE FECH - MET267ILE 417 417 PHE SER PROTOPORPHYRIA - ERYTHROPOIETIC FECH - PHE417SER 363 363 VAL GLY PROTOPORPHYRIA - ERYTHROPOIETIC - AUTOSOMAL RECESSIVE FECH - VAL363GLY 408 408 ASN LYS PROTOPORPHYRIA - ERYTHROPOIETIC FECH - ASN408LYS - PRO409SER - AND CYS411GLY 409 409 PRO SER PROTOPORPHYRIA - ERYTHROPOIETIC FECH - ASN408LYS - PRO409SER - AND CYS411GLY 411 411 CYS GLY PROTOPORPHYRIA - ERYTHROPOIETIC FECH - ASN408LYS - PRO409SER - AND CYS411GLY 99 99 GLN ARG LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY C8ORF38 - GLN99ARG 81 81 ARG GLN DEAFNESS - AUTOSOMAL RECESSIVE 63 LRTOMT - ARG81GLN 105 105 TRP ARG DEAFNESS - AUTOSOMAL RECESSIVE 63 LRTOMT - TRP105ARG 110 110 GLU LYS DEAFNESS - AUTOSOMAL RECESSIVE 63 LRTOMT - GLU110LYS 81 81 ARG GLN DEAFNESS - AUTOSOMAL RECESSIVE 63 LRTOMT - ARG81GLN 105 105 TRP ARG DEAFNESS - AUTOSOMAL RECESSIVE 63 LRTOMT - TRP105ARG 110 110 GLU LYS DEAFNESS - AUTOSOMAL RECESSIVE 63 LRTOMT - GLU110LYS 1252 1253 CYS TYR CONTRACTURAL ARACHNODACTYLY - CONGENITAL FBN2 - CYS1252TYR 390 391 GLU LYS CONTRACTURAL ARACHNODACTYLY - CONGENITAL FBN2 - GLU390LYS 964 965 VAL ILE CONTRACTURAL ARACHNODACTYLY - CONGENITAL FBN2 - VAL964ILE 1114 1115 ASP HIS CONTRACTURAL ARACHNODACTYLY - CONGENITAL FBN2 - ASP1114HIS 1141 1142 CYS PHE CONTRACTURAL ARACHNODACTYLY - CONGENITAL FBN2 - CYS1141PHE 1252 1253 CYS TRP CONTRACTURAL ARACHNODACTYLY - CONGENITAL FBN2 - CYS1252TRP 1259 1259 ASN LYS CONTRACTURAL ARACHNODACTYLY - CONGENITAL FBN2 - ASN1259LYS 217 217 SER PRO DIABETES - NEONATAL - WITH PANCREATIC HYPOPLASIA - INTESTINAL ATRESIA - AND GALLBLADDER APLASIA OR HYPOPLASIA RFX6 - SER217PRO 181 181 ARG GLN DIABETES - NEONATAL - WITH PANCREATIC HYPOPLASIA - INTESTINAL ATRESIA - AND GALLBLADDER APLASIA OR HYPOPLASIA RFX6 - ARG181GLN 23 23 GLY ASP HYPERPHENYLALANINEMIA - BH4-DEFICIENT - C QDPR - GLY23ASP 108 108 TRP GLY HYPERPHENYLALANINEMIA - BH4-DEFICIENT - C QDPR - TRP108GLY 36 36 TRP ARG HYPERPHENYLALANINEMIA - BH4-DEFICIENT - C QDPR - TRP36ARG 150 150 TYR CYS HYPERPHENYLALANINEMIA - BH4-DEFICIENT - C QDPR - TYR150CYS 25 25 ARG GLN HYPERPHENYLALANINEMIA - BH4-DEFICIENT - A PTS - ARG25GLN 16 16 ARG CYS HYPERPHENYLALANINEMIA - BH4-DEFICIENT - A - DUE TO PARTIAL PTS DEFICIENCY PTS - ARG16CYS 52 52 ASN SER HYPERPHENYLALANINEMIA - BH4-DEFICIENT - A PTS - ASN52SER 87 87 PRO SER HYPERPHENYLALANINEMIA - BH4-DEFICIENT - A PTS - PRO87SER 56 56 VAL MET HYPERPHENYLALANINEMIA - BH4-DEFICIENT - A PTS - VAL56MET 47 47 ASN ASP HYPERPHENYLALANINEMIA - BH4-DEFICIENT - A - DUE TO PARTIAL PTS DEFICIENCY PTS - ASN47ASP 116 116 ASP GLY HYPERPHENYLALANINEMIA - BH4-DEFICIENT - A - DUE TO PARTIAL PTS DEFICIENCY PTS - ASP116GLY 96 96 ASP ASN HYPERPHENYLALANINEMIA - BH4-DEFICIENT - A PTS - ASP96ASN 149 150 ALA PRO FRUCTOSE INTOLERANCE ALDOB - ALA149PRO 174 175 ALA ASP FRUCTOSE INTOLERANCE ALDOB - ALA174ASP 334 335 ASN LYS FRUCTOSE INTOLERANCE ALDOB - ASN334LYS 147 148 TRP ARG FRUCTOSE INTOLERANCE ALDOB - TRP147ARG 331 331 ARG TRP COPROPORPHYRIA CPOX - ARG331TRP 404 404 LYS GLU HARDEROPORPHYRIA CPOX - LYS404GLU 295 295 HIS ASP COPROPORPHYRIA CPOX - HIS295ASP 447 447 ARG CYS COPROPORPHYRIA CPOX - ARG447CYS 208 208 SER PHE COPROPORPHYRIA CPOX - SER208PHE 328 328 ARG CYS COPROPORPHYRIA CPOX - ARG328CYS 279 279 GLY ARG COPROPORPHYRIA - DIGENIC CPOX - GLY279ARG 75 75 CYS SER HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME CCBE1 - CYS75SER 102 102 CYS SER HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME CCBE1 - CYS102SER 237 237 GLY ARG HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME CCBE1 - GLY237ARG 158 158 ARG CYS HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME CCBE1 - ARG158CYS 174 174 CYS ARG HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME CCBE1 - CYS174ARG 77 77 HIS ARG LUTHERAN BLOOD GROUP POLYMORPHISM Lu(a)/Lu(b) BCAM - HIS77ARG 539 539 THR ALA AUBERGER BLOOD GROUP POLYMORPHISM Au(a)/Au(b) BCAM - THR539ALA 974 974 ASP VAL 5-@FLUOROURACIL TOXICITY DPYD - ASP974VAL 29 29 CYS ARG DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY DPYD - CYS29ARG 886 886 ARG HIS DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY DPYD - ARG886HIS 57 57 GLY ARG MITOCHONDRIAL COMPLEX II DEFICIENCY SDHAF1 - GLY57ARG 55 55 ARG PRO MITOCHONDRIAL COMPLEX II DEFICIENCY SDHAF1 - ARG55PRO 172 172 SER PRO POLYMICROGYRIA - ASYMMETRIC TUBB2B - SER172PRO 228 228 LEU PRO POLYMICROGYRIA - ASYMMETRIC TUBB2B - LEU228PRO 265 265 PHE LEU POLYMICROGYRIA - ASYMMETRIC TUBB2B - PHE265LEU 318 318 ARG TRP MACROTHROMBOCYTOPENIA - AUTOSOMAL DOMINANT - TUBB1-RELATED TUBB1 - ARG318TRP 77 77 GLY ARG MITOCHONDRIAL COMPLEX I DEFICIENCY NDUFAF3 - GLY77ARG 122 122 ARG PRO MITOCHONDRIAL COMPLEX I DEFICIENCY NDUFAF3 - ARG122PRO 1 1 MET THR MITOCHONDRIAL COMPLEX I DEFICIENCY NDUFAF3 - MET1THR 89 89 GLU ALA GLYCOGEN STORAGE DISEASE X PGAM2 - GLU89ALA 90 90 ARG TRP GLYCOGEN STORAGE DISEASE X PGAM2 - ARG90TRP 97 97 GLY ASP GLYCOGEN STORAGE DISEASE X PGAM2 - GLY97ASP 184 184 CYS ARG LEUKOENCEPHALOPATHY - CYSTIC - WITHOUT MEGALENCEPHALY RNASET2 - CYS184ARG 334 334 TYR CYS CEREBRAL PALSY - SPASTIC QUADRIPLEGIC - 4 SEPSECS - TYR334CYS 239 239 ALA THR CEREBRAL PALSY - SPASTIC QUADRIPLEGIC - 4 SEPSECS - ALA239THR 450 450 ARG CYS UROCANASE DEFICIENCY UROC1 - ARG450CYS 70 70 LEU PRO UROCANASE DEFICIENCY UROC1 - LEU70PRO 362 362 GLY VAL TYROSINEMIA - TYPE II TAT - IVS8DS - T-G - +2 AND GLY362VAL 78 78 GLY ARG PARAGANGLIOMAS 2 SDHAF2 - GLY78ARG 515 515 ARG TRP JOUBERT SYNDROME 1 INPP5E - ARG515TRP 563 563 ARG HIS JOUBERT SYNDROME 1 INPP5E - ARG563HIS 435 435 ARG GLN JOUBERT SYNDROME 1 INPP5E - ARG435GLN 378 378 ARG CYS JOUBERT SYNDROME 1 INPP5E - ARG378CYS 107 107 CYS ARG GM2-GANGLIOSIDOSIS - AB VARIANT GM2A - CYS107ARG 169 169 ARG PRO GM2-GANGLIOSIDOSIS - AB VARIANT GM2A - ARG169PRO 412 412 PHE VAL GALACTOSIALIDOSIS - LATE INFANTILE CTSA - PHE412VAL 49 49 GLN ARG GALACTOSIALIDOSIS CTSA - GLN49ARG 65 65 TRP ARG GALACTOSIALIDOSIS CTSA - TRP65ARG 90 90 SER LEU GALACTOSIALIDOSIS CTSA - SER90LEU 395 395 TYR CYS GALACTOSIALIDOSIS CTSA - TYR395CYS 249 249 TYR ASN GALACTOSIALIDOSIS CTSA - TYR249ASN 221 221 TYR ASN GALACTOSIALIDOSIS - LATE INFANTILE CTSA - TYR221ASN 104 104 VAL MET GALACTOSIALIDOSIS - EARLY INFANTILE CTSA - VAL104MET 208 208 LEU PRO GALACTOSIALIDOSIS - EARLY INFANTILE CTSA - LEU208PRO 411 411 GLY SER GALACTOSIALIDOSIS - EARLY INFANTILE CTSA - GLY411SER 378 378 MET THR GALACTOSIALIDOSIS - LATE INFANTILE CTSA - MET378THR 453 453 LYS GLU GALACTOSIALIDOSIS - LATE INFANTILE CTSA - LYS453GLU 348 348 LEU PRO NEUROFIBROMATOSIS - TYPE I NF1 - LEU348PRO 1423 1423 LYS GLU NEUROFIBROMATOSIS - TYPE I NF1 - LYS1423GLU 2143 2143 LEU MET NEUROFIBROMATOSIS - TYPE I NF1 - LEU2143MET 2213 2213 TYR ASN NEUROFIBROMATOSIS - TYPE I NF1 - TYR2213ASN 1035 1035 MET ARG NEUROFIBROMATOSIS - TYPE I NF1 - MET1035ARG 1391 1391 ARG SER NEUROFIBROMATOSIS - TYPE I NF1 - ARG1391SER 1276 1276 ARG PRO NEUROFIBROMATOSIS - TYPE I NF1 - ARG1276PRO 489 489 TYR CYS NEUROFIBROMATOSIS - TYPE I NF1 - TYR489CYS 508 508 LEU PRO NEUROFIBROMATOSIS - TYPE I NF1 - LEU508PRO 2067 2067 LEU PRO NEUROFIBROMATOSIS - FAMILIAL SPINAL NF1 - LEU2067PRO 357 357 LEU PRO NEUROFIBROMATOSIS - TYPE I NEUROFIBROMATOSIS - FAMILIAL SPINAL - INCLUDED NF1 - LEU357PRO 1243 1243 LEU PRO NEUROFIBROMATOSIS - TYPE I NF1 - LEU1243PRO 844 844 LEU ARG NEUROFIBROMATOSIS - TYPE I NF1 - LEU844ARG 1390 1390 LEU PHE NEUROFIBROMATOSIS-NOONAN SYNDROME NF1 - LEU1390PHE 652 652 TYR CYS CARDIOMYOPATHY - DILATED - 1CC NEXN - TYR652CYS 611 611 PRO THR CARDIOMYOPATHY - DILATED - 1CC NEXN - PRO611THR 237 237 ALA PRO EXUDATIVE VITREORETINOPATHY 5 TSPAN12 - ALA237PRO 188 188 GLY ARG EXUDATIVE VITREORETINOPATHY 5 TSPAN12 - GLY188ARG 101 101 LEU HIS EXUDATIVE VITREORETINOPATHY 5 TSPAN12 - LEU101HIS 1628 1628 ILE THR VON WILLEBRAND DISEASE - TYPE 2A VWF - ILE1628THR 1597 1597 ARG TRP VON WILLEBRAND DISEASE - TYPE 2A VWF - ARG1597TRP 1607 1607 VAL ASP VON WILLEBRAND DISEASE - TYPE 2A VWF - VAL1607ASP 1313 1313 TRP CYS VON WILLEBRAND DISEASE - TYPE 2B VWF - TRP1313CYS 1306 1306 ARG TRP VON WILLEBRAND DISEASE - TYPE 2B VWF - ARG1306TRP 1308 1308 ARG CYS VON WILLEBRAND DISEASE - TYPE 2B VWF - ARG1308CYS 1316 1316 VAL MET VON WILLEBRAND DISEASE - TYPE 2B VWF - VAL1316MET 1341 1341 ARG GLN VON WILLEBRAND DISEASE - TYPE 2B VWF - ARG1341GLN 1613 1613 SER PRO VON WILLEBRAND DISEASE - TYPE 2A VWF - SER1613PRO 1399 1399 ARG HIS VON WILLEBRAND FACTOR POLYMORPHISM VWF - ARG1399HIS 791 791 THR MET VON WILLEBRAND DISEASE - TYPE 2N VWF - THR791MET 816 816 ARG TRP VON WILLEBRAND DISEASE - TYPE 2N VWF - ARG816TRP 854 854 ARG GLN VON WILLEBRAND DISEASE - TYPE 2N VON WILLEBRAND DISEASE - TYPE 1 - INCLUDED VWF - ARG854GLN 1324 1324 GLY SER VON WILLEBRAND DISEASE - TYPE 2M VWF - GLY1324SER 1272 1272 CYS ARG VON WILLEBRAND DISEASE - TYPE 2A VWF - CYS1272ARG 1314 1314 VAL LEU VON WILLEBRAND DISEASE - TYPE 2B VWF - VAL1314LEU 1514 1514 PHE CYS VON WILLEBRAND DISEASE - TYPE 2A VWF - PHE1514CYS 550 550 GLY ARG VON WILLEBRAND DISEASE - TYPE 2A VWF - GLY550ARG 2773 2773 CYS ARG VON WILLEBRAND DISEASE - TYPE 2A VWF - CYS2773ARG 1205 1205 ARG HIS VON WILLEBRAND DISEASE - TYPE 1 VON WILLEBRAND FACTOR VICENZA VWF - ARG1205HIS 1149 1149 CYS ARG VON WILLEBRAND DISEASE - TYPE 1 VWF - CYS1149ARG 1584 1584 TYR CYS VON WILLEBRAND DISEASE - TYPE 1 - SUSCEPTIBILITY TO VWF - TYR1584CYS 1285 1285 SER PHE VON WILLEBRAND DISEASE - TYPE 2M VWF - SER1285PHE 795 795 TYR CYS VON WILLEBRAND DISEASE - TYPE 2N VWF - TYR795CYS 804 804 CYS PHE VON WILLEBRAND DISEASE - TYPE 2N VWF - CYS804PHE 1266 1266 PRO LEU VON WILLEBRAND DISEASE - TYPE 2B WVF - PRO1266LEU 2362 2362 CYS PHE VON WILLEBRAND DISEASE - TYPE 3 VWF - CYS2362PHE 1060 1060 CYS ARG VON WILLEBRAND DISEASE - TYPE 2N VWF - CYS1060ARG 528 528 ASN SER VON WILLEBRAND DISEASE - TYPE 2A VWF - ASN528SER 300 300 ARG CYS DESBUQUOIS DYSPLASIA CANT1 - ARG300CYS 300 300 ARG HIS DESBUQUOIS DYSPLASIA CANT1 - ARG300HIS 299 299 PRO LEU DESBUQUOIS DYSPLASIA CANT1 - PRO299LEU 384 384 VAL MET ALPHA-2-PLASMIN INHIBITOR DEFICIENCY SERPINF2 - VAL384MET 638 638 PRO LEU CARDIOMYOPATHY - DILATED - 1DD RBM20 - PRO638LEU 634 634 ARG GLN CARDIOMYOPATHY - DILATED - 1DD RBM20 - ARG634GLN 636 636 ARG SER CARDIOMYOPATHY - DILATED - 1DD RBM20 - ARG636SER 636 636 ARG HIS CARDIOMYOPATHY - DILATED - 1DD RBM20 - ARG636HIS 637 637 SER GLY CARDIOMYOPATHY - DILATED - 1DD RBM20 - SER637GLY 175 175 LEU ARG CILIARY DYSKINESIA - PRIMARY - 13 LRRC50 - LEU175ARG 218 238 PRO HIS XERODERMA PIGMENTOSUM - COMPLEMENTATION GROUP C XPC - PRO218HIS 822 842 LYS GLN XERODERMA PIGMENTOSUM - COMPLEMENTATION GROUP C XPC - 3-BP INS - GGT - CODON 580 AND LYS822GLN 128 128 SER PRO METHEMOGLOBINEMIA - TYPE II CYB5R3 - SER128PRO 58 58 ARG GLN METHEMOGLOBINEMIA - TYPE I CYB5R3 - ARG58GLN 149 149 LEU PRO METHEMOGLOBINEMIA - TYPE I CYB5R3 - LEU149PRO 106 106 VAL MET METHEMOGLOBINEMIA - TYPE I CYB5R3 - VAL106MET 204 204 CYS ARG METHEMOGLOBINEMIA - TYPE II CYB5R3 - CYS204ARG 117 117 THR SER NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM CYB5R3 - THR117SER 73 73 LEU PRO METHEMOGLOBINEMIA - TYPE I CYB5R3 - LEU73PRO 204 204 CYS TYR METHEMOGLOBINEMIA - TYPE I CYB5R3 - CYS204TYR 292 292 GLY ASP METHEMOGLOBINEMIA - TYPE I CYB5R3 - GLY292ASP 240 240 ASP GLY METHEMOGLOBINEMIA - TYPE I CYB5R3 - ASP240GLY 163 163 CYS SER ASPARTYLGLUCOSAMINURIA - FINNISH TYPE AGA - CYS163SER 302 302 GLY ARG ASPARTYLGLUCOSAMINURIA AGA - GLY302ARG 306 306 CYS ARG ASPARTYLGLUCOSAMINURIA AGA - CYS306ARG 60 60 GLY ASP ASPARTYLGLUCOSAMINURIA AGA - GLY60ASP 101 101 ALA VAL ASPARTYLGLUCOSAMINURIA AGA - ALA101VAL 72 72 SER PRO ASPARTYLGLUCOSAMINURIA AGA - SER72PRO 276 276 ASP ASN PROLIDASE DEFICIENCY PEPD - ASP276ASN 184 184 ARG GLN PROLIDASE DEFICIENCY PEPD - ARG184GLN 278 278 GLY ASP PROLIDASE DEFICIENCY PEPD - GLY278ASP 448 448 GLY ARG PROLIDASE DEFICIENCY PEPD - GLY448ARG 412 412 GLU LYS PROLIDASE DEFICIENCY PEPD - GLU412LYS 202 202 SER PHE PROLIDASE DEFICIENCY PEPD - SER202PHE 354 354 THR MET THYROTOXIC PERIODIC PARALYSIS - SUSCEPTIBILITY TO - 2 KCNJ18 - THR354MET 205 205 ARG HIS THYROTOXIC PERIODIC PARALYSIS - SUSCEPTIBILITY TO - 2 KCNJ18 - ARG205HIS 366 366 LYS ARG THYROTOXIC PERIODIC PARALYSIS - SUSCEPTIBILITY TO - 2 KCNJ18 - LYS366ARG 73 66 ARG LEU JOUBERT SYNDROME 2 TMEM216 - ARG73LEU 73 66 ARG HIS JOUBERT SYNDROME 2 MECKEL SYNDROME 2 - INCLUDED TMEM216 - ARG73HIS 114 107 LEU ARG MECKEL SYNDROME 2 TMEM216 - LEU114ARG 77 70 GLY ALA MECKEL SYNDROME 2 TMEM216 - GLY77ALA 138 138 ARG CYS DEAFNESS - AUTOSOMAL RECESSIVE 25 GRXCR1 - ARG138CYS 43 43 ARG TRP FRANK-TER HAAR SYNDROME SH3PXD2B - ARG43TRP 334 334 GLN ARG DIHYDROPYRIMIDINASE DEFICIENCY DPYS - GLN334ARG 435 435 GLY ARG DIHYDROPYRIMIDINASE DEFICIENCY DPYS - GLY435ARG 360 360 TRP ARG DIHYDROPYRIMIDINASE DEFICIENCY DPYS - TRP360ARG 412 412 ARG MET DIHYDROPYRIMIDINASE DEFICIENCY DPYS - ARG412MET 1 1 MET ILE GYRATE ATROPHY OF CHOROID AND RETINA OAT - MET1ILE 55 55 TYR HIS GYRATE ATROPHY OF CHOROID AND RETINA OAT - TYR55HIS 93 93 CYS PHE GYRATE ATROPHY OF CHOROID AND RETINA OAT - CYS93PHE 154 154 ARG LEU GYRATE ATROPHY OF CHOROID AND RETINA OAT - ARG154LEU 180 180 ARG THR GYRATE ATROPHY OF CHOROID AND RETINA OAT - ARG180THR 270 270 ALA PRO GYRATE ATROPHY OF CHOROID AND RETINA OAT - ALA270PRO 271 271 ARG LYS GYRATE ATROPHY OF CHOROID AND RETINA OAT - ARG271LYS 402 402 LEU PRO GYRATE ATROPHY OF CHOROID AND RETINA OAT - LEU402PRO 417 417 PRO LEU GYRATE ATROPHY OF CHOROID AND RETINA OAT - PRO417LEU 437 437 LEU PHE OAT POLYMORPHISM OAT - LEU437PHE 375 375 GLY ALA GYRATE ATROPHY OF CHOROID AND RETINA OAT - GLY375ALA 245 245 TYR CYS GYRATE ATROPHY OF CHOROID AND RETINA OAT - TYR245CYS 378 378 ASN ASN OAT POLYMORPHISM OAT - ASN378ASN 332 332 VAL MET GYRATE ATROPHY OF CHOROID AND RETINA WITH PYRIDOXINE-RESPONSIVE ORNITHINEMIA OAT - VAL332MET 54 54 ASN LYS GYRATE ATROPHY OF CHOROID AND RETINA OAT - ASN54LYS 319 319 HIS TYR GYRATE ATROPHY OF CHOROID AND RETINA OAT - HIS319TYR 184 184 ARG THR GYRATE ATROPHY OF CHOROID AND RETINA OAT - ARG184THR 241 241 PRO LEU GYRATE ATROPHY OF CHOROID AND RETINA OAT - PRO241LEU 250 250 ARG PRO GYRATE ATROPHY OF CHOROID AND RETINA OAT - ARG250PRO 353 353 GLY ASP GYRATE ATROPHY OF CHOROID AND RETINA OAT - GLY353ASP 394 394 CYS ARG GYRATE ATROPHY OF CHOROID AND RETINA OAT - CYS394ARG 226 226 ALA VAL GYRATE ATROPHY OF CHOROID AND RETINA WITH PYRIDOXINE-RESPONSIVE ORNITHINEMIA OAT - ALA226VAL 90 90 GLN GLU GYRATE ATROPHY OF CHOROID AND RETINA OAT - GLN90GLU 199 199 PRO GLN GYRATE ATROPHY OF CHOROID AND RETINA OAT - PRO199GLN 132 132 ARG TRP BROWN-VIALETTO-VAN LAERE SYNDROME C20ORF54 - ARG132TRP 224 224 PHE LEU BROWN-VIALETTO-VAN LAERE SYNDROME C20ORF54 - PHE224LEU 36 36 GLU LYS BROWN-VIALETTO-VAN LAERE SYNDROME - MILD C20ORF54 - GLU36LYS 413 413 VAL ALA BROWN-VIALETTO-VAN LAERE SYNDROME - MILD C20ORF54 - VAL413ALA 28 28 PRO THR BROWN-VIALETTO-VAN LAERE SYNDROME C20ORF54 - PRO28THR 17 17 TRP ARG BROWN-VIALETTO-VAN LAERE SYNDROME C20ORF54 - TRP17ARG 307 307 GLY SER HOMOCYSTINURIA - PYRIDOXINE-NONRESPONSIVE HYPERHOMOCYSTEINEMIA - THROMBOTIC - CBS-RELATED - INCLUDED CBS - GLY307SER 145 145 PRO LEU HOMOCYSTINURIA - PYRIDOXINE-RESPONSIVE CBS - PRO145LEU 114 114 ALA VAL HOMOCYSTINURIA - PYRIDOXINE-RESPONSIVE CBS - ALA114VAL 278 278 ILE THR HOMOCYSTINURIA - PYRIDOXINE-RESPONSIVE HYPERHOMOCYSTEINEMIA - THROMBOTIC - CBS-RELATED - INCLUDED CBS - ILE278THR 139 139 GLY ARG HOMOCYSTINURIA - PYRIDOXINE-RESPONSIVE CBS - GLY139ARG 144 144 GLU LYS HOMOCYSTINURIA - PYRIDOXINE-RESPONSIVE CBS - GLU144LYS 384 384 LYS GLU HOMOCYSTINURIA - PYRIDOXINE-RESPONSIVE CBS - LYS384GLU 539 539 LEU SER HOMOCYSTINURIA - PYRIDOXINE-RESPONSIVE CBS - LEU539SER 266 266 ARG LYS HOMOCYSTINURIA - PYRIDOXINE-RESPONSIVE CBS - ARG266LYS 444 444 ASP ASN HOMOCYSTINURIA - PYRIDOXINE-RESPONSIVE HYPERHOMOCYSTEINEMIA - THROMBOTIC - CBS-RELATED - INCLUDED CBS - ASP444ASN 168 168 VAL MET HOMOCYSTINURIA - PYRIDOXINE-RESPONSIVE CBS - VAL168MET 422 422 PRO LEU HYPERHOMOCYSTEINEMIA - THROMBOTIC - CBS-RELATED CBS - PRO422LEU 466 466 SER LEU HYPERHOMOCYSTEINEMIA - THROMBOTIC - CBS-RELATED CBS - SER466LEU 353 353 THR MET HOMOCYSTINURIA - PYRIDOXINE-NONRESPONSIVE CBS - THR353MET 191 191 THR MET HOMOCYSTINURIA - PYRIDOXINE-NONRESPONSIVE CBS - THR191MET 1 1 MET ARG ARTHROGRYPOSIS - RENAL DYSFUNCTION - AND CHOLESTASIS 2 VIPAR - MET1ARG 201 201 ILE PHE RETINITIS PIGMENTOSA 54 C2ORF71 - ILE201PHE 259 259 PRO ARG TCN2 POLYMORPHISM TCN2 - PRO259ARG 222 222 THR LYS FARBER LIPOGRANULOMATOSIS ASAH1 - THR222LYS 138 138 GLU VAL FARBER LIPOGRANULOMATOSIS ASAH1 - GLU138VAL 36 36 TYR CYS FARBER LIPOGRANULOMATOSIS ASAH1 - TYR36CYS 320 320 ASN ASP FARBER LIPOGRANULOMATOSIS ASAH1 - ASN320ASP 182 182 LEU VAL FARBER LIPOGRANULOMATOSIS ASAH1 - LEU182VAL 179 179 LEU PRO WOLMAN DISEASE CHOLESTERYL ESTER STORAGE DISEASE - INCLUDED LIPA - LEU179PRO 281 281 GLY VAL PORPHYRIA CUTANEA TARDA UROD - GLY281VAL 281 281 GLY GLU PORPHYRIA - HEPATOERYTHROPOIETIC PORPHYRIA CUTANEA TARDA - INCLUDED UROD - GLY281GLU 167 167 GLU LYS PORPHYRIA - HEPATOERYTHROPOIETIC UROD - GLU167LYS 292 292 ARG GLY PORPHYRIA - HEPATOERYTHROPOIETIC UROD - ARG292GLY 62 62 PRO LEU PORPHYRIA - HEPATOERYTHROPOIETIC UROD - PRO62LEU 311 311 TYR CYS PORPHYRIA - HEPATOERYTHROPOIETIC UROD - TYR311CYS 314 314 GLU GLU PORPHYRIA CUTANEA TARDA UROD - GLU314GLU 165 165 MET ARG PORPHYRIA CUTANEA TARDA UROD - MET165ARG 195 195 LEU PHE PORPHYRIA CUTANEA TARDA UROD - LEU195PHE 304 304 ASN LYS PORPHYRIA CUTANEA TARDA UROD - ASN304LYS 332 332 ARG HIS PORPHYRIA CUTANEA TARDA UROD - ARG332HIS 79 79 GLY ARG TRITANOPIA OPN1SW - GLY79ARG 214 214 SER PRO TRITANOPIA OPN1SW - SER214PRO 264 264 PRO SER TRITANOPIA OPN1SW - PRO264SER 265 265 GLN PRO MICROCEPHALY - PRIMARY AUTOSOMAL RECESSIVE - 4 CEP152 - GLN265PRO 453 453 GLY CYS NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1 XPNPEP3 - GLY453CYS 147 147 ASP HIS MYOCLONIC EPILEPSY - INFANTILE - FAMILIAL TBC1D24 - ASP147HIS 509 509 ALA VAL MYOCLONIC EPILEPSY - INFANTILE - FAMILIAL TBC1D24 - ALA509VAL 251 251 PHE LEU MYOCLONIC EPILEPSY - INFANTILE - FAMILIAL TBC1D24 - PHE251LEU 208 208 LEU PHE BARDET-BIEDL SYNDROME 12 - MODIFIER OF C2ORF86 - LEU208PHE 55 55 ARG LYS MECKEL SYNDROME - TYPE 6 - MODIFIER OF C2ORF86 - ARG55LYS 526 526 GLU LYS MICROCEPHALY - CORTICAL MALFORMATIONS - AND MENTAL RETARDATION WDR62 - GLU526LYS 224 224 TRP SER MICROCEPHALY - CORTICAL MALFORMATIONS - AND MENTAL RETARDATION WDR62 - TRP224SER 287 287 GLY VAL HYPEROXALURIA - PRIMARY - TYPE III DHDPSL - GLY287VAL 97 97 ARG CYS HYPEROXALURIA - PRIMARY - TYPE III DHDPSL - ARG97CYS 70 70 ARG PRO HYPEROXALURIA - PRIMARY - TYPE III DHDPSL - ARG70PRO 257 257 CYS GLY HYPEROXALURIA - PRIMARY - TYPE III DHDPSL - CYS257GLY 339 339 CYS ARG RETINITIS PIGMENTOSA 58 ZNF513 - CYS339ARG 626 626 GLU GLY CRANIOECTODERMAL DYSPLASIA 2 WDR35 - GLU626GLY 875 875 ALA THR CRANIOECTODERMAL DYSPLASIA 2 WDR35 - ALA875THR 282 282 CYS TYR HEMOCHROMATOSIS PORPHYRIA CUTANEA TARDA - SUSCEPTIBILITY TO - INCLUDED;; PORPHYRIA VARIEGATA - SUSCEPTIBILITY TO - INCLUDED;; HEMOCHROMATOSIS - JUVENILE - DIGENIC - INCLUDED;; ALZHEIMER DISEASE - SUSCEPTIBILITY TO - INCLUDED;; TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS - INCLUDED;; MICROVASCULAR COMPLICATIONS OF DIABETES - SUSCEPTIBILITY TO - 7 - INCLUDED HFE - CYS282TYR 63 63 HIS ASP HEMOCHROMATOSIS MICROVASCULAR COMPLICATIONS OF DIABETES - SUSCEPTIBILITY TO - 7 - INCLUDED HFE - HIS63ASP 65 65 SER CYS HEMOCHROMATOSIS HFE - SER65CYS 53 53 VAL MET HFE POLYMORPHISM HFE - VAL53MET 59 59 VAL MET HFE POLYMORPHISM HFE - VAL59MET 127 127 GLN HIS HEMOCHROMATOSIS HFE - GLN127HIS 330 330 ARG MET HEMOCHROMATOSIS HFE - ARG330MET 105 105 ILE THR HEMOCHROMATOSIS HFE - ILE105THR 93 93 GLY ARG HEMOCHROMATOSIS HFE - GLY93ARG 283 283 GLN PRO HEMOCHROMATOSIS HFE - GLN283PRO 56 56 GLY ARG MITOCHONDRIAL COMPLEX I DEFICIENCY NUBPL - GLY56ARG AND 815-27T-C 430 430 ASN SER MITOCHONDRIAL COMPLEX I DEFICIENCY FOXRED1 - ASN430SER 1046 1046 GLY ARG SPINOCEREBELLAR ATAXIA - AUTOSOMAL RECESSIVE 5 ZNF592 - GLY1046ARG 42 42 GLY ASP DUFFY BLOOD GROUP SYSTEM - FYA/FYB POLYMORPHISM DARC - GLY42ASP 89 89 ARG CYS DUFFY BLOOD GROUP SYSTEM - FY(bwk) PHENOTYPE DARC - ARG89CYS 86 86 LEU SER CONGENITAL DISORDER OF GLYCOSYLATION - TYPE Ip; CDG1P ALG11 - LEU86SER 478 478 ASN ASP ATAXIA - SPASTIC - 4 - AUTOSOMAL RECESSIVE MTPAP - ASN478ASP 238 238 GLN ARG CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY SLC25A20 - GLN238ARG 47 47 GLU LYS TREACHER COLLINS SYNDROME 2 POLR1D - GLU47LYS 51 51 LEU ARG TREACHER COLLINS SYNDROME 2 POLR1D - LEU51ARG 89 89 CYS GLY DEAFNESS - AUTOSOMAL RECESSIVE 74 MSRB3 - CYS89GLY 510 510 LEU ARG SPINOCEREBELLAR ATAXIA - AUTOSOMAL RECESSIVE 10 ANO10 - LEU510ARG 390 390 LYS ASN NEMALINE MYOPATHY 6 KBTBD13 - LYS390ASN 408 408 ARG CYS NEMALINE MYOPATHY 6 KBTBD13 - ARG408CYS 248 248 ARG SER NEMALINE MYOPATHY 6 KBTBD13 - ARG248SER 22 27 LEU ARG MULTIPLE ENDOCRINE NEOPLASIA - TYPE I MEN1 - LEU22ARG 436 441 TRP ARG MULTIPLE ENDOCRINE NEOPLASIA - TYPE I MEN1 - TRP436ARG 26 31 GLU LYS PARATHYROID ADENOMA - SOMATIC MEN1 - GLU26LYS 135 135 LYS ILE ANGIOFIBROMA - SOMATIC MEN1 - LYS135ILE 359 364 GLU LYS ANGIOFIBROMA - SOMATIC MEN1 - 1184GG-AA - GLU359LYS 255 260 GLU LYS HYPERPARATHYROIDISM - FAMILIAL ISOLATED PRIMARY MEN1 - GLU255LYS 184 189 VAL GLU HYPERPARATHYROIDISM - FAMILIAL ISOLATED PRIMARY MEN1 - VAL184GLU 552 557 THR SER ADRENAL ADENOMA - SOMATIC MEN1 - THR552SER 139 139 HIS ASP MULTIPLE ENDOCRINE NEOPLASIA - TYPE I MEN1 - HIS139ASP 418 423 ASP ASN MULTIPLE ENDOCRINE NEOPLASIA - TYPE I MEN1 - ASP418ASN 338 339 ASN SER GLYCOGEN STORAGE DISEASE VI PYGL - ASN338SER 376 377 ASN LYS GLYCOGEN STORAGE DISEASE VI PYGL - ASN376LYS 83 83 ARG CYS GLYCOGEN STORAGE DISEASE Ia G6PC - ARG83CYS 295 295 ARG CYS GLYCOGEN STORAGE DISEASE Ia G6PC - ARG295CYS 38 38 ASP VAL GLYCOGEN STORAGE DISEASE Ia G6PC - ASP38VAL 77 77 TRP ARG GLYCOGEN STORAGE DISEASE Ia G6PC - TRP77ARG 110 110 GLU LYS GLYCOGEN STORAGE DISEASE Ia G6PC - GLU110LYS 124 124 ALA THR GLYCOGEN STORAGE DISEASE Ia G6PC - ALA124THR 184 184 GLY GLU GLYCOGEN STORAGE DISEASE Ia G6PC - GLY184GLU 188 188 GLY ARG GLYCOGEN STORAGE DISEASE Ia G6PC - GLY188ARG 341 341 ILE ASP GLYCOGEN STORAGE DISEASE Ia G6PC - ILE341ASP 166 166 VAL GLY GLYCOGEN STORAGE DISEASE Ia G6PC - VAL166GLY