487 487 GLU LYS ALCOHOL INTOLERANCE - ACUTE ACETALDEHYDE DEHYDROGENASE 2 - ALLELE 2 - INCLUDED; ALDH2*2 - INCLUDED ALDH2 - GLU487LYS 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 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 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 322 322 HIS ASN YT BLOOD GROUP POLYMORPHISM ACHE - HIS322ASN 312 314 ARG HIS CARDIOMYOPATHY - IDIOPATHIC DILATED ACTC - ARG312HIS 361 363 GLU GLY CARDIOMYOPATHY - IDIOPATHIC DILATED ACTC - GLU361GLY 295 297 ALA SER CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC ACTC - ALA295SER 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 136 136 MET THR APRT DEFICIENCY - JAPANESE TYPE APRT*J 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 MYOPATHY - ACTIN - CONGENITAL - WITH EXCESS OF THIN MYOFILAMENTS 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 460 460 GLY TRP HYPERTENSION - SALT-SENSITIVE ESSENTIAL - SUSCEPTIBILITY TO ADD1 - GLY460TRP 48 48 PRO LEU AMPD DEFICIENCY AMPD1 - GLN12TER - PRO48LEU 388 388 ARG TRP AMPD DEFICIENCY AMPD1 - ARG388TRP 425 425 ARG HIS AMPD DEFICIENCY AMPD1 - ARG425HIS 573 573 ARG CYS AMP DEAMINASE DEFICIENCY OF ERYTHROCYTE AMPD3 - ARG573CYS 128 128 ARG TRP ADENYLATE KINASE DEFICIENCY - HEMOLYTIC ANEMIA DUE TO AK1 - ARG128TRP 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 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 47 48 ARG HIS ALCOHOL DEHYDROGENASE - BETA SUBUNIT - 'TYPICAL'/'ATYPICAL' ADH2*1/ADH2*2 ADH2 - ARG47HIS 369 370 ARG CYS ALCOHOL DEHYDROGENASE - BETA SUBUNIT - INDIANAPOLIS ADH2*3 ADH2 - ARG369CYS 128 129 ASP GLY ALDOLASE DEFICIENCY OF RED CELLS ALDOA - ASP128GLY 206 207 GLU LYS MYOPATHY AND HEMOLYTIC ANEMIA 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 - TYPE 3 PSEN1 - MET146LEU 163 163 HIS ARG ALZHEIMER DISEASE - FAMILIAL - TYPE 3 PSEN1 - HIS163ARG 246 246 ALA GLU ALZHEIMER DISEASE - FAMILIAL - TYPE 3 PSEN1 - ALA246GLU 286 286 LEU VAL ALZHEIMER DISEASE - FAMILIAL - TYPE 3 PSEN1 - LEU286VAL 410 410 CYS TYR ALZHEIMER DISEASE - FAMILIAL - TYPE 3 PSEN1 - CYS410TYR 139 139 MET VAL ALZHEIMER DISEASE - FAMILIAL - TYPE 3 PSEN1 - MET139VAL 146 146 MET VAL ALZHEIMER DISEASE - FAMILIAL - TYPE 3 PSEN1 - MET146VAL 163 163 HIS TYR ALZHEIMER DISEASE - FAMILIAL - TYPE 3 PSEN1 - HIS163TYR 280 280 GLU ALA ALZHEIMER DISEASE - FAMILIAL - TYPE 3 PSEN1 - GLU280ALA 280 280 GLU GLY ALZHEIMER DISEASE - FAMILIAL - TYPE 3 ALZHEIMER DISEASE - FAMILIAL - WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES PSEN1 - GLU280GLY 267 267 PRO SER ALZHEIMER DISEASE - FAMILIAL - TYPE 3 PSEN1 - PRO267SER 120 120 GLU ASP ALZHEIMER DISEASE - FAMILIAL - TYPE 3 PSEN1 - GLU120ASP 426 426 ALA PRO ALZHEIMER DISEASE - FAMILIAL - TYPE 3 PSEN1 - ALA426PRO 146 146 MET ILE ALZHEIMER DISEASE - FAMILIAL - TYPE 3 PSEN1 - MET146ILE 250 250 LEU SER ALZHEIMER DISEASE - FAMILIAL - TYPE 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 - TYPE 3 PSEN1 - CYS92SER 206 206 GLY ALA ALZHEIMER DISEASE - FAMILIAL - TYPE 3 PSEN1 - GLY206ALA 266 266 GLY SER ALZHEIMER DISEASE - FAMILIAL - TYPE 3 ALZHEIMER DISEASE - FAMILIAL - TYPE 3 - WITH SPASTIC PARAPARESIS AND APRAXIA PSEN1 - GLY266SER 113 113 LEU PRO DEMENTIA - FRONTOTEMPORAL PSEN1 - LEU113PRO 166 166 LEU PRO ALZHEIMER DISEASE - FAMILIAL - TYPE 3 PSEN1 - LEU166PRO 174 174 LEU MET ALZHEIMER DISEASE - FAMILIAL - TYPE 3 PSEN1 - LEU174MET 271 271 LEU VAL ALZHEIMER DISEASE - FAMILIAL - TYPE 3 - WITH UNUSUAL PLAQUES PSEN1 - LEU271VAL 183 183 GLY VAL PICK DISEASE OF BRAIN PSEN1 - GLY183VAL 436 436 PRO GLN ALZHEIMER DISEASE - FAMILIAL - TYPE 3 PSEN1 - PRO436GLN 278 278 ARG ILE ALZHEIMER DISEASE - FAMILIAL - TYPE 3 PSEN1 - ARG278ILE 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 72 90 GLY ASP SERUM AMYLOID A VARIANT SAA1 - GLY72ASP 52 70 VAL ALA SERUM AMYLOID A VARIANT SAA1 - VAL52ALA 693 693 GLU GLN AMYLOIDOSIS - WITH CEREBRAL HEMORRHAGE - HEREDITARY - DUTCH TYPE APP - GLU693GLN 717 717 VAL ILE ALZHEIMER DISEASE - FAMILIAL APP - VAL717ILE 717 717 VAL PHE ALZHEIMER DISEASE - FAMILIAL APP - VAL717PHE 717 717 VAL GLY ALZHEIMER DISEASE - FAMILIAL APP - VAL717GLY 692 692 ALA GLY DEMENTIA - PRESENILE - AND CEREBROARTERIAL AMYLOIDOSIS APP - ALA692GLY 713 713 ALA VAL SCHIZOPHRENIA APP - ALA713VAL 670 670 LYS ASN ALZHEIMER DISEASE - FAMILIAL APP - LYS670ASN 713 713 ALA THR ALZHEIMER DISEASE - FAMILIAL APP - ALA713THR 665 665 GLU ASP ALZHEIMER DISEASE - LATE-ONSET APP - GLU665ASP 716 716 ILE VAL ALZHEIMER DISEASE - EARLY-ONSET APP - ILE716VAL 715 715 VAL MET ALZHEIMER DISEASE - EARLY-ONSET APP - VAL715MET 693 693 GLU GLY ALZHEIMER DISEASE - EARLY-ONSET APP - GLU693GLY 693 693 GLU LYS AMYLOIDOSIS - CEREBROARTERIAL - ITALIAN TYPE APP - GLU693LYS 714 714 THR ILE ALZHEIMER DISEASE - EARLY-ONSET APP - THR714ILE 23 23 ASN ASP AMYLOIDOSIS - CEREBROARTERIAL - IOWA TYPE OCCIPITAL CALCIFICATIONS - FAMILIAL - WITH HEMORRHAGIC STROKES - LEUKOENCEPHALOPATHY - ARTERIAL DYSPLASIA - AND DEMENTIA - INCLUDED APP - ASN23ASP 714 714 THR ALA ALZHEIMER DISEASE - FAMILIAL APP - THR714ALA 671 671 MET LEU ALZHEIMER DISEASE - FAMILIAL APP - MET671LEU 235 235 MET THR HYPERTENSION - ESSENTIAL - SUSCEPTIBILITY TO PREECLAMPSIA - SUSCEPTIBILITY TO - INCLUDED AGT - MET235THR 1199 1199 PRO LEU ANGIOTENSIN I-CONVERTING ENZYME - BENIGN SERUM INCREASE ACE - PRO1199LEU 1425 1425 GLU GLY LONG QT SYNDROME 4 SICK SINUS SYNDROME WITH BRADYCARDIA - INCLUDED ANK2 - GLU1425GLY 1626 1626 THR ASN SICK SINUS SYNDROME WITH BRADYCARDIA ANK2 - THR1626ASN 1622 1622 LEU ILE SICK SINUS SYNDROME WITH BRADYCARDIA ANK2 - LEU1622ILE 1788 1788 ARG TRP SICK SINUS SYNDROME WITH BRADYCARDIA ANK2 - ARG1788TRP 1813 1813 GLU LYS SICK SINUS SYNDROME WITH BRADYCARDIA ANK2 - GLU1813LYS 46 46 ARG GLY INDIAN BLOOD GROUP SYSTEM POLYMORPHISM CD44 - ARG46GLY 389 389 MET VAL ANTICHYMOTRYPSIN ISEHARA 1 AACT - MET389VAL 55 55 LEU PRO ANTICHYMOTRYPSIN BOCHUM 1 AACT - LEU55PRO 229 229 PRO ALA ANTICHYMOTRYPSIN BONN 1 AACT - PRO229ALA 404 436 ALA THR AT-III OSLO AT3 - ALA404THR 384 416 ALA PRO AT-III CHARLEVILLE AT-III CAMBRIDGE I;; AT-III SUDBURY;; AT-III VICENZA AT3 - ALA384PRO 47 79 ARG CYS AT-III TOYAMA AT-III TOURS;; AT-III ALGER;; AT-III AMIENS AT3 - ARG47CYS 393 425 ARG PRO AT-III PESCARA AT3 - ARG393PRO 394 426 SER LEU AT-III DENVER AT-III MILANO 2 AT3 - SER394LEU 47 79 ARG HIS AT-III ROUEN I AT3 - ARG47HIS 47 79 ARG SER AT-III ROUEN II AT3 - ARG47SER 407 439 PRO LEU AT-III UTAH AT3 - PRO407LEU 393 425 ARG CYS AT-III NORTHWICK PARK AT-III MILANO 1 AT3 - ARG393CYS 393 425 ARG HIS AT-III GLASGOW AT-III SHEFFIELD AT-III CHICAGO AT3 - ARG393HIS 382 414 ALA THR AT-III HAMILTON AT3 - ALA382THR 7 39 ILE ASN AT-III ROUEN III AT3 - ILE7ASN 41 73 PRO LEU AT-III BASEL AT-III FRANCONVILLE AT3 - PRO41LEU 24 56 ARG CYS AT-III ROUEN IV AT3 - ARG24CYS 384 416 ALA SER AT-III CAMBRIDGE II AT3 - ALA384SER 291 323 SER PRO THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY AT3 - SER291PRO 309 341 ASP LYS THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY AT3 - ASP309LYS 129 161 ARG GLN THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY AT-III GENEVA AT3 - ARG129GLN 429 461 PRO LEU AT-III BUDAPEST AT3 - PRO429LEU 349 381 SER PRO AT-III DEFICIENCY AT3 - SER349PRO 392 424 GLY ASP AT-III STOCKHOLM AT3 - GLY392ASP 99 131 LEU PHE AT-III BUDAPEST 3 AT3 - LEU99PHE 48 80 VAL CYS THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY AT3 - VAL48CYS 208 240 ASN LYS THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY AT3 - ASN208LYS 370 402 LYS ARG THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY AT3 - LYS370ARG 387 419 ALA VAL THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY AT3 - ALA387VAL 116 148 SER PRO AT-III NAGASAKI AT3 - SER116PRO 135 167 ASN THR ANTITHROMBIN DEFICIENCY AT3 - ASN135THR 187 219 ASN ASP AT-III ROUEN VI AT3 - ASN187ASP 191 223 SER PRO ANTITHROMBIN 3 DEFICIENCY AT3 - SER191PRO 213 213 ALA VAL PI M1-VAL213 PI - M1V PI - ALA213VAL 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 QO(CARDIFF) PI - ASP256VAL ON M1V 353 377 LEU PHE PI NULL(MATTAWA) PI QO(MATTAWA) PI - LEU353PHE 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 QO(DEVON);; PI NULL(NEWPORT);; PI QO(NEWPORT) PI - GLY115SER 92 116 ILE ASN PI NULL(LUDWIGSHAFEN) PI QO(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 TUBERCULOSIS - SUSCEPTIBILITY TO IFNGR1 - ILE87THR 77 77 CYS TYR ATYPICAL MYCOBACTERIAL INFECTION - DISSEMINATED FAMILIAL IFNGR1 - CYS77TYR 61 61 VAL GLN ATYPICAL MYCOBACTERIAL INFECTION - DISSEMINATED IFNGR1 - VAL61GLN 173 197 ARG CYS APOLIPOPROTEIN A-I (MILANO) APOA1 - ARG173CYS 198 222 GLU LYS APOLIPOPROTEIN A-I APOA1 - GLU198LYS 136 160 GLU LYS APOLIPOPROTEIN A-I APOA1 - GLU136LYS 143 167 PRO ARG APOLIPOPROTEIN A-I (GIESSEN) APOA1 - PRO143ARG 3 27 PRO ARG APOLIPOPROTEIN A-I APOA1 - PRO3ARG 4 28 PRO ARG APOLIPOPROTEIN A-I 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 (OITA) 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 APOE4 ISOFORM 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 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 187 187 ARG CYS DIABETES INSIPIDUS - NEPHROGENIC - AUTOSOMAL RECESSIVE AQP2 - ARG187CYS 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 435 435 ARG CYS AROMATASE DEFICIENCY CYP19A1 - ARG435CYS 437 437 CYS TYR AROMATASE DEFICIENCY CYP19A1 - CYS437TYR 375 375 ARG CYS AROMATASE DEFICIENCY - PLACENTAL CYP19A1 - ARG375CYS 365 365 ARG GLN AROMATASE DEFICIENCY CYP19A1 - ARG365GLN 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 - HEREDITARY - DUE TO BAND 3 TUSCALOOSA SLC4A1 - PRO327ARG 40 40 GLU LYS HEMOLYTIC ANEMIA DUE TO BAND 3 MONTEFIORE SLC4A1 - GLU40LYS 658 658 GLU LYS WRIGHT BLOOD GROUP ANTIGEN SLC4A1 - GLU658LYS 771 771 GLY ASP SPHEROCYTOSIS - HEREDITARY - DUE TO BAND 3 CHUR SLC4A1 - GLY771ASP 557 557 VAL MET WALDNER BLOOD GROUP ANTIGEN WD(a) 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 - AUTOSOMAL RECESSIVE SLC4A1 - GLY701ASP 854 854 PRO LEU DIEGO BLOOD GROUP ANTIGEN SLC4A1 - PRO854LEU 130 130 GLY ARG SPHEROCYTOSIS - HEREDITARY - DUE TO BAND 3 FUKUOKA SLC4A1 - GLY130ARG 837 837 THR ALA SPHEROCYTOSIS - HEREDITARY - DUE TO BAND 3 TOKYO SLC4A1 - THR837ALA 858 858 ALA ASP RENAL TUBULAR ACIDOSIS - AUTOSOMAL DOMINANT SLC4A1 - ALA858ASP 488 488 VAL MET SPHEROCYTOSIS - HEREDITARY SPHEROCYTOSIS - HEREDITARY - AND DISTAL RENAL TUBULAR ACIDOSIS DUE TO BAND 3 COIMBRA SLC4A1 - VAL488MET 90 90 GLU LYS SPHEROCYTOSIS - HEREDITARY - DUE TO BAND 3 CAPE TOWN SLC4A1 - GLU90LYS 870 870 ARG TRP SPHEROCYTOSIS - HEREDITARY - DUE TO BAND 3 PRAGUE III SLC4A1 - ARG870TRP 92 92 GLU LYS BLOOD GROUP--OK BSG - GLU92LYS 83 83 CYS ARG IMMUNODEFICIENCY WITH HYPER-IgM - TYPE 3 TNFRSF5 - CYS83ARG 389 389 ARG GLY BETA-1-ADRENERGIC RECEPTOR POLYMORPHISM - GAIN-OF-FUNCTION CONGESTIVE HEART FAILURE - SUSCEPTIBILITY TO ADRB1 - ARG389GLY 49 49 SER GLY RESTING HEART RATE ADRB1 - SER49GLY 16 16 ARG GLY ASTHMA - NOCTURNAL - SUSCEPTIBILITY TO OBESITY - SUSCEPTIBILITY TO - INCLUDED ADRB2 - ARG16GLY 27 27 GLN GLU OBESITY - SUSCEPTIBILITY TO ASTHMA - CHILDHOOD - 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 156 156 PRO LEU BLOOD GROUP CIS-AB ABO - PRO156LEU - GLY268ALA 268 268 GLY ALA BLOOD GROUP CIS-AB ABO - PRO156LEU - GLY268ALA 265 265 ASN ASP DOMBROCK BLOOD GROUP ART4 - ASN265ASP 44 44 GLY ASP DUFFY a/DUFFY b POLYMORPHISM FY - GLY44ASP 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 77 77 HIS ARG LUTHERAN BLOOD GROUP POLYMORPHISM Lu(a)/Lu(b) LU - HIS77ARG 539 539 THR ALA AUBERGER BLOOD GROUP POLYMORPHISM Au(a)/Au(b) LU - THR539ALA 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 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 - INCLUDED;; EATING DISORDERS - SUSCEPTIBILITY TO - INCLUDED;; BIPOLAR AFFECTIVE DISORDER - SUSCEPTIBILITY TO - INCLUDED BDNF - VAL66MET 64 64 CYS GLY BREAST-OVARIAN CANCER BRCA1 - CYS64GLY 61 61 CYS GLY OVARIAN CANCER - SPORADIC BRCA1 - CYS61GLY 1040 1040 SER ASN BREAST-OVARIAN CANCER BRCA1 - SER1040ASN 1443 1443 ARG GLY BREAST-OVARIAN CANCER BRCA1 - ARG1443GLY 841 841 ARG TRP BREAST CANCER BRCA1 - ARG841TRP 71 71 ARG GLY BREAST-OVARIAN CANCER BRCA1 - ARG71GLY 1775 1775 MET ARG BREAST-OVARIAN CANCER BRCA1 - MET1775ARG 1303 1303 ARG GLN EPIDERMOLYSIS BULLOSA - JUNCTIONAL - LOCALISATA VARIANT COL17A1 - ARG1303GLN 633 633 GLY ASP EPIDERMOLYSIS BULLOSA - GENERALIZED ATROPHIC BENIGN COL17A1 - GLY633ASP 503 503 ARG HIS HYPOTRICHOSIS - CONGENITAL - WITH JUVENILE MACULAR DYSTROPHY CDH3 - ARG503HIS 463 463 PRO LEU OSTEOPOROSIS - SUSCEPTIBILITY TO CALCR - PRO463LEU 406 406 GLY ARG TIMOTHY SYNDROME CACNA1C - GLY406ARG 1239 1239 ARG HIS HYPOKALEMIC PERIODIC PARALYSIS CACNA1S - ARG1239HIS 1239 1239 ARG GLY HYPOKALEMIC PERIODIC PARALYSIS CACNA1S - ARG1239GLY 528 528 ARG HIS HYPOKALEMIC PERIODIC PARALYSIS CACNA1S - ARG528HIS 1086 1086 ARG HIS MALIGNANT HYPERTHERMIA - SUSCEPTIBILITY TO - 5 CACNA1S - ARG1086HIS 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 - STRESS-INDUCED POLYMORPHIC - AUTOSOMAL RECESSIVE CASQ2 - ASP307HIS