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<