ClinVar Miner

List of variants reported as uncertain significance for capillary malformation by Invitae

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 403
Download table as spreadsheet
HGVS dbSNP
NC_000009.12:g.(?_127819612)_(127820047_?)dup
NC_000010.10:g.(?_48413558)_(48416713_?)del
NC_000010.10:g.(?_48413568)_(48416703_?)del
NC_000010.10:g.(?_48413568)_(48416703_?)dup
NM_000020.2(ACVRL1):c.1004A>T (p.Asn335Ile) rs1060503247
NM_000020.2(ACVRL1):c.1007T>A (p.Val336Glu) rs1565594467
NM_000020.2(ACVRL1):c.1025T>C (p.Leu342Pro) rs762287966
NM_000020.2(ACVRL1):c.1027_1047del (p.Gln343_Leu349del) rs1592224385
NM_000020.2(ACVRL1):c.1028A>C (p.Gln343Pro) rs1592224402
NM_000020.2(ACVRL1):c.1033T>C (p.Cys345Arg) rs1060503239
NM_000020.2(ACVRL1):c.1034G>A (p.Cys345Tyr) rs1592224431
NM_000020.2(ACVRL1):c.1093G>A (p.Gly365Ser) rs749510030
NM_000020.2(ACVRL1):c.1121G>C (p.Arg374Pro) rs1060503248
NM_000020.2(ACVRL1):c.1190A>T (p.Asp397Val) rs1592225044
NM_000020.2(ACVRL1):c.1228C>T (p.Arg410Cys) rs781770577
NM_000020.2(ACVRL1):c.1249A>T (p.Ile417Phe) rs141653630
NM_000020.2(ACVRL1):c.1310A>G (p.Asp437Gly) rs1060503238
NM_000020.2(ACVRL1):c.1324G>A (p.Val442Met) rs1085307421
NM_000020.2(ACVRL1):c.137G>C (p.Cys46Ser) rs1555152454
NM_000020.2(ACVRL1):c.1412G>A (p.Cys471Tyr) rs1555154137
NM_000020.2(ACVRL1):c.1416G>C (p.Trp472Cys) rs1060503243
NM_000020.2(ACVRL1):c.1416G>T (p.Trp472Cys) rs1060503243
NM_000020.2(ACVRL1):c.1448T>G (p.Leu483Arg) rs1565597471
NM_000020.2(ACVRL1):c.208G>A (p.Gly70Arg) rs1439294840
NM_000020.2(ACVRL1):c.236G>A (p.Gly79Glu) rs1283365095
NM_000020.2(ACVRL1):c.265T>G (p.Cys89Gly) rs1555152520
NM_000020.2(ACVRL1):c.266G>T (p.Cys89Phe) rs1060503234
NM_000020.2(ACVRL1):c.269G>T (p.Cys90Phe) rs863223410
NM_000020.2(ACVRL1):c.293A>G (p.Asn98Ser) rs1085307406
NM_000020.2(ACVRL1):c.368T>C (p.Leu123Pro) rs762756031
NM_000020.2(ACVRL1):c.470T>C (p.Leu157Pro) rs1371249289
NM_000020.2(ACVRL1):c.518T>C (p.Met173Thr) rs754813319
NM_000020.2(ACVRL1):c.526-7C>A rs772776468
NM_000020.2(ACVRL1):c.557G>T (p.Ser186Ile) rs1288729113
NM_000020.2(ACVRL1):c.593T>C (p.Val198Ala) rs886043123
NM_000020.2(ACVRL1):c.653G>C (p.Arg218Pro) rs779287554
NM_000020.2(ACVRL1):c.655G>C (p.Gly219Arg) rs1592223416
NM_000020.2(ACVRL1):c.682G>A (p.Val228Ile) rs138048445
NM_000020.2(ACVRL1):c.685A>G (p.Lys229Glu) rs1592223468
NM_000020.2(ACVRL1):c.773-7_773-6delinsTC rs1555153071
NM_000020.2(ACVRL1):c.851C>T (p.Ser284Phe) rs768643771
NM_000020.2(ACVRL1):c.905T>C (p.Leu302Pro) rs1565594217
NM_000020.2(ACVRL1):c.916_917delinsAA (p.Ala306Lys) rs1060503244
NM_000020.2(ACVRL1):c.920C>A (p.Ala307Glu) rs863223411
NM_000020.2(ACVRL1):c.925G>C (p.Gly309Arg) rs1555153133
NM_000020.2(ACVRL1):c.969A>C (p.Lys323Asn) rs771877309
NM_000020.2(ACVRL1):c.984C>A (p.His328Gln) rs1565594410
NM_000020.2(ACVRL1):c.992T>C (p.Phe331Ser) rs1166311240
NM_000020.3(ACVRL1):c.1010T>C (p.Leu337Pro) rs1592224349
NM_000020.3(ACVRL1):c.1013T>G (p.Val338Gly)
NM_000020.3(ACVRL1):c.1042G>T (p.Asp348Tyr)
NM_000020.3(ACVRL1):c.1048+3_1048+4delinsTT
NM_000020.3(ACVRL1):c.1064A>C (p.His355Pro)
NM_000020.3(ACVRL1):c.1112G>C (p.Gly371Ala)
NM_000020.3(ACVRL1):c.1165_1179del (p.Cys389_Tyr393del)
NM_000020.3(ACVRL1):c.1258G>A (p.Asp420Asn)
NM_000020.3(ACVRL1):c.1376C>T (p.Pro459Leu)
NM_000020.3(ACVRL1):c.1377G>A (p.Pro459=)
NM_000020.3(ACVRL1):c.1405C>T (p.Arg469Trp)
NM_000020.3(ACVRL1):c.1411T>G (p.Cys471Gly)
NM_000020.3(ACVRL1):c.1427C>G (p.Pro476Arg)
NM_000020.3(ACVRL1):c.1427C>T (p.Pro476Leu)
NM_000020.3(ACVRL1):c.1459A>G (p.Lys487Glu)
NM_000020.3(ACVRL1):c.1465C>A (p.Leu489Ile)
NM_000020.3(ACVRL1):c.251T>G (p.Phe84Cys)
NM_000020.3(ACVRL1):c.263A>G (p.Tyr88Cys)
NM_000020.3(ACVRL1):c.338C>T (p.Pro113Leu)
NM_000020.3(ACVRL1):c.369G>A (p.Leu123=)
NM_000020.3(ACVRL1):c.5C>T (p.Thr2Ile)
NM_000020.3(ACVRL1):c.611TGG[1] (p.Val205del) rs1060503250
NM_000020.3(ACVRL1):c.615G>A (p.Val205=)
NM_000020.3(ACVRL1):c.625G>A (p.Gly209Arg)
NM_000020.3(ACVRL1):c.626-9G>A
NM_000020.3(ACVRL1):c.737A>G (p.Tyr246Cys)
NM_000020.3(ACVRL1):c.830C>G (p.Thr277Arg)
NM_000020.3(ACVRL1):c.890A>G (p.His297Arg) rs139380315
NM_000020.3(ACVRL1):c.917C>T (p.Ala306Val) rs150038846
NM_000020.3(ACVRL1):c.979G>C (p.Ala327Pro)
NM_000118.3(ENG):c.1015G>A (p.Ala339Thr) rs761463410
NM_000118.3(ENG):c.1036C>T (p.Pro346Ser) rs1554810062
NM_000118.3(ENG):c.1055C>T (p.Pro352Leu) rs1356571461
NM_000118.3(ENG):c.1067T>A (p.Met356Lys) rs138190783
NM_000118.3(ENG):c.1110G>A (p.Leu370=) rs1588580725
NM_000118.3(ENG):c.112G>A (p.Glu38Lys) rs747481834
NM_000118.3(ENG):c.1133C>T (p.Ala378Val) rs143054595
NM_000118.3(ENG):c.1154C>T (p.Thr385Met) rs199764615
NM_000118.3(ENG):c.1160T>C (p.Leu387Pro) rs1564453623
NM_000118.3(ENG):c.1166_1168del (p.Phe389del) rs1588577016
NM_000118.3(ENG):c.1217G>A (p.Arg406His) rs149065210
NM_000118.3(ENG):c.1252G>C (p.Ala418Pro) rs150293362
NM_000118.3(ENG):c.1259T>C (p.Met420Thr) rs766272638
NM_000118.3(ENG):c.1274C>A (p.Ala425Glu) rs369997021
NM_000118.3(ENG):c.1274C>T (p.Ala425Val) rs369997021
NM_000118.3(ENG):c.130T>G (p.Tyr44Asp) rs1554812271
NM_000118.3(ENG):c.1311+6A>G rs1060501416
NM_000118.3(ENG):c.1313A>G (p.Lys438Arg) rs755962839
NM_000118.3(ENG):c.1316A>C (p.Lys439Thr) rs368533266
NM_000118.3(ENG):c.1319T>G (p.Val440Gly) rs1554809363
NM_000118.3(ENG):c.1335G>A (p.Met445Ile) rs777564305
NM_000118.3(ENG):c.137C>T (p.Thr46Ile) rs1393437924
NM_000118.3(ENG):c.1406C>T (p.Pro469Leu) rs367753784
NM_000118.3(ENG):c.1408G>C (p.Gly470Arg) rs756263325
NM_000118.3(ENG):c.1428+5C>A rs1564452925
NM_000118.3(ENG):c.1434A>T (p.Arg478Ser) rs778561832
NM_000118.3(ENG):c.1441C>T (p.Pro481Ser) rs1554809289
NM_000118.3(ENG):c.1469T>C (p.Leu490Ser) rs763475207
NM_000118.3(ENG):c.1585C>T (p.Arg529Cys) rs745316066
NM_000118.3(ENG):c.1592G>A (p.Ser531Asn) rs780884220
NM_000118.3(ENG):c.1672G>A (p.Gly558Arg) rs373230507
NM_000118.3(ENG):c.1682A>C (p.Asp561Ala) rs375965489
NM_000118.3(ENG):c.1699A>G (p.Thr567Ala) rs1554809101
NM_000118.3(ENG):c.1702G>A (p.Val568Ile) rs781201877
NM_000118.3(ENG):c.1726A>G (p.Ser576Gly) rs1564452024
NM_000118.3(ENG):c.1758C>T (p.Gly586=) rs150566847
NM_000118.3(ENG):c.1762G>A (p.Val588Ile) rs201768056
NM_000118.3(ENG):c.1780G>A (p.Gly594Ser) rs1060501409
NM_000118.3(ENG):c.1844C>G (p.Ser615Trp) rs148002300
NM_000118.3(ENG):c.1850C>T (p.Thr617Met) rs201031046
NM_000118.3(ENG):c.185T>A (p.Leu62His) rs1060501424
NM_000118.3(ENG):c.1873C>G (p.Gln625Glu) rs147188969
NM_000118.3(ENG):c.217A>G (p.Thr73Ala) rs1472137141
NM_000118.3(ENG):c.219+3G>A rs1419279746
NM_000118.3(ENG):c.310A>G (p.Ser104Gly) rs757343854
NM_000118.3(ENG):c.322C>T (p.His108Tyr) rs756897517
NM_000118.3(ENG):c.350A>C (p.His117Pro) rs1588585799
NM_000118.3(ENG):c.360+5G>A rs1060501417
NM_000118.3(ENG):c.360C>T (p.Tyr120=) rs121918402
NM_000118.3(ENG):c.396_397delinsAA (p.Val133Ile) rs1554810507
NM_000118.3(ENG):c.498G>C (p.Gln166His) rs1167818567
NM_000118.3(ENG):c.534_536del (p.Leu179del) rs1285249384
NM_000118.3(ENG):c.539C>T (p.Ser180Phe) rs375025857
NM_000118.3(ENG):c.565G>T (p.Asp189Tyr) rs147792018
NM_000118.3(ENG):c.575G>A (p.Arg192His) rs1029569378
NM_000118.3(ENG):c.578C>T (p.Thr193Met) rs775442178
NM_000118.3(ENG):c.583G>C (p.Glu195Gln) rs1255912441
NM_000118.3(ENG):c.589C>T (p.Arg197Trp) rs780987528
NM_000118.3(ENG):c.593C>T (p.Pro198Leu) rs777633247
NM_000118.3(ENG):c.614G>A (p.Arg205Gln) rs751778614
NM_000118.3(ENG):c.617G>C (p.Gly206Ala) rs201393380
NM_000118.3(ENG):c.633C>T (p.Gly211=) rs928192105
NM_000118.3(ENG):c.634G>A (p.Val212Met) rs370652082
NM_000118.3(ENG):c.673C>G (p.Pro225Ala) rs1554810373
NM_000118.3(ENG):c.675G>A (p.Pro225=) rs757608428
NM_000118.3(ENG):c.68-4A>G rs1564462843
NM_000118.3(ENG):c.680A>G (p.His227Arg) rs377548944
NM_000118.3(ENG):c.686C>A (p.Ala229Asp) rs971190119
NM_000118.3(ENG):c.694C>T (p.Arg232Trp) rs200372420
NM_000118.3(ENG):c.698C>T (p.Thr233Met) rs139767471
NM_000118.3(ENG):c.713T>A (p.Val238Glu) rs1060501415
NM_000118.3(ENG):c.722G>A (p.Ser241Asn) rs1060501411
NM_000118.3(ENG):c.727G>A (p.Ala243Thr) rs761827492
NM_000118.3(ENG):c.733G>A (p.Gly245Arg) rs762569294
NM_000118.3(ENG):c.742G>A (p.Asp248Asn) rs775160533
NM_000118.3(ENG):c.754A>T (p.Ile252Phe) rs377377549
NM_000118.3(ENG):c.782G>T (p.Trp261Leu) rs1060501420
NM_000118.3(ENG):c.799_804del (p.His267_Asn268del) rs1588581812
NM_000118.3(ENG):c.7C>G (p.Arg3Gly) rs139334561
NM_000118.3(ENG):c.7C>T (p.Arg3Cys) rs139334561
NM_000118.3(ENG):c.805A>G (p.Met269Val) rs1323617205
NM_000118.3(ENG):c.806T>C (p.Met269Thr) rs752331196
NM_000118.3(ENG):c.839A>G (p.Lys280Arg) rs774709924
NM_000118.3(ENG):c.863G>A (p.Arg288His) rs770328302
NM_000118.3(ENG):c.884C>T (p.Thr295Ile) rs12042
NM_000118.3(ENG):c.88T>A (p.Cys30Ser) rs1564462834
NM_000118.3(ENG):c.911G>A (p.Arg304Gln) rs753429934
NM_000118.3(ENG):c.990C>T (p.Cys330=) rs369202854
NM_001077401.2(ACVRL1):c.1177_1179delinsCAA (p.Tyr393Gln) rs1565595070
NM_001114753.3(ENG):c.1026G>T (p.Gln342His)
NM_001114753.3(ENG):c.1027A>G (p.Thr343Ala)
NM_001114753.3(ENG):c.1029_1030delinsTC (p.Thr344Pro)
NM_001114753.3(ENG):c.1063C>T (p.Leu355Phe)
NM_001114753.3(ENG):c.1067T>C (p.Met356Thr)
NM_001114753.3(ENG):c.1093G>A (p.Asp365Asn)
NM_001114753.3(ENG):c.1109T>A (p.Leu370Gln)
NM_001114753.3(ENG):c.1110_1115dup (p.Val371_Leu372dup)
NM_001114753.3(ENG):c.1135C>A (p.His379Asn)
NM_001114753.3(ENG):c.1153A>C (p.Thr385Pro)
NM_001114753.3(ENG):c.116G>A (p.Arg39Lys)
NM_001114753.3(ENG):c.1171G>C (p.Asp391His)
NM_001114753.3(ENG):c.1177A>G (p.Ser393Gly)
NM_001114753.3(ENG):c.1181G>A (p.Cys394Tyr)
NM_001114753.3(ENG):c.118G>T (p.Gly40Cys)
NM_001114753.3(ENG):c.1195A>G (p.Arg399Gly)
NM_001114753.3(ENG):c.1197G>C (p.Arg399Ser)
NM_001114753.3(ENG):c.1208T>C (p.Phe403Ser)
NM_001114753.3(ENG):c.1234T>G (p.Cys412Gly)
NM_001114753.3(ENG):c.1258A>G (p.Met420Val)
NM_001114753.3(ENG):c.1273-4_1273-3delinsAA
NM_001114753.3(ENG):c.1276G>A (p.Val426Met)
NM_001114753.3(ENG):c.1295G>A (p.Ser432Asn)
NM_001114753.3(ENG):c.1295G>C (p.Ser432Thr)
NM_001114753.3(ENG):c.1336G>A (p.Asp446Asn)
NM_001114753.3(ENG):c.1357G>C (p.Gly453Arg)
NM_001114753.3(ENG):c.1385A>G (p.Gln462Arg)
NM_001114753.3(ENG):c.1390T>A (p.Ser464Thr)
NM_001114753.3(ENG):c.1393A>G (p.Asn465Asp)
NM_001114753.3(ENG):c.1427A>G (p.Gln476Arg)
NM_001114753.3(ENG):c.149C>T (p.Ser50Leu)
NM_001114753.3(ENG):c.1534G>A (p.Ala512Thr)
NM_001114753.3(ENG):c.1538A>G (p.Lys513Arg)
NM_001114753.3(ENG):c.1565C>T (p.Pro522Leu)
NM_001114753.3(ENG):c.160G>A (p.Val54Met)
NM_001114753.3(ENG):c.1637C>T (p.Thr546Ile)
NM_001114753.3(ENG):c.1695T>A (p.His565Gln)
NM_001114753.3(ENG):c.1710G>T (p.Met570Ile)
NM_001114753.3(ENG):c.1711C>T (p.Arg571Cys) rs764262721
NM_001114753.3(ENG):c.1721TCA[1] (p.Ile575del) rs777038953
NM_001114753.3(ENG):c.1724T>C (p.Ile575Thr)
NM_001114753.3(ENG):c.1725C>G (p.Ile575Met)
NM_001114753.3(ENG):c.1730C>G (p.Pro577Arg)
NM_001114753.3(ENG):c.1744T>G (p.Cys582Gly)
NM_001114753.3(ENG):c.1759C>T (p.Leu587Phe)
NM_001114753.3(ENG):c.1771G>A (p.Ala591Thr)
NM_001114753.3(ENG):c.1774G>A (p.Val592Met)
NM_001114753.3(ENG):c.1786A>G (p.Thr596Ala)
NM_001114753.3(ENG):c.1852+42C>T
NM_001114753.3(ENG):c.194A>G (p.His65Arg)
NM_001114753.3(ENG):c.214C>T (p.Pro72Ser)
NM_001114753.3(ENG):c.219+5G>T
NM_001114753.3(ENG):c.223C>T (p.Pro75Ser)
NM_001114753.3(ENG):c.242C>A (p.Thr81Asn)
NM_001114753.3(ENG):c.278G>A (p.Arg93Gln)
NM_001114753.3(ENG):c.293T>A (p.Val98Asp)
NM_001114753.3(ENG):c.320_328del (p.Leu107_Leu109del)
NM_001114753.3(ENG):c.321_322delinsTT (p.His108Tyr) rs1060501425
NM_001114753.3(ENG):c.332C>T (p.Ala111Val)
NM_001114753.3(ENG):c.343C>T (p.Pro115Ser)
NM_001114753.3(ENG):c.354G>A (p.Leu118=)
NM_001114753.3(ENG):c.35T>C (p.Leu12Pro)
NM_001114753.3(ENG):c.373G>C (p.Val125Leu)
NM_001114753.3(ENG):c.374T>C (p.Val125Ala) rs750115837
NM_001114753.3(ENG):c.413T>C (p.Leu138Pro)
NM_001114753.3(ENG):c.442G>C (p.Glu148Gln)
NM_001114753.3(ENG):c.470C>T (p.Thr157Ile)
NM_001114753.3(ENG):c.497A>C (p.Gln166Pro)
NM_001114753.3(ENG):c.530G>A (p.Gly177Glu)
NM_001114753.3(ENG):c.547A>G (p.Met183Val)
NM_001114753.3(ENG):c.556G>A (p.Ala186Thr)
NM_001114753.3(ENG):c.565G>A (p.Asp189Asn)
NM_001114753.3(ENG):c.569T>A (p.Met190Lys)
NM_001114753.3(ENG):c.586T>A (p.Trp196Arg)
NM_001114753.3(ENG):c.590G>A (p.Arg197Gln)
NM_001114753.3(ENG):c.613C>T (p.Arg205Trp)
NM_001114753.3(ENG):c.627G>C (p.Leu209Phe)
NM_001114753.3(ENG):c.653C>T (p.Ala218Val)
NM_001114753.3(ENG):c.668_685del (p.Val223_Ser228del)
NM_001114753.3(ENG):c.674C>T (p.Pro225Leu)
NM_001114753.3(ENG):c.682T>A (p.Ser228Thr)
NM_001114753.3(ENG):c.688G>A (p.Gly230Arg)
NM_001114753.3(ENG):c.68G>C (p.Ser23Thr)
NM_001114753.3(ENG):c.695G>A (p.Arg232Gln)
NM_001114753.3(ENG):c.695G>T (p.Arg232Leu)
NM_001114753.3(ENG):c.698CGGTGA[1] (p.233TV[1]) rs1588582060
NM_001114753.3(ENG):c.704C>A (p.Thr235Lys)
NM_001114753.3(ENG):c.704C>T (p.Thr235Met)
NM_001114753.3(ENG):c.707T>A (p.Val236Glu)
NM_001114753.3(ENG):c.748G>A (p.Val250Ile)
NM_001114753.3(ENG):c.755T>C (p.Ile252Thr)
NM_001114753.3(ENG):c.818C>T (p.Thr273Ile) rs727503038
NM_001114753.3(ENG):c.820A>G (p.Thr274Ala)
NM_001114753.3(ENG):c.821C>T (p.Thr274Ile)
NM_001114753.3(ENG):c.829T>C (p.Tyr277His)
NM_001114753.3(ENG):c.841A>G (p.Ile281Val)
NM_001114753.3(ENG):c.866G>A (p.Gly289Asp)
NM_001114753.3(ENG):c.889C>G (p.Gln297Glu)
NM_001114753.3(ENG):c.901G>C (p.Gly301Arg)
NM_001114753.3(ENG):c.910C>T (p.Arg304Trp)
NM_001114753.3(ENG):c.91G>A (p.Asp31Asn)
NM_001114753.3(ENG):c.923_925dup (p.Ser309_Ile310insThr)
NM_001114753.3(ENG):c.951_956del (p.Pro318_Leu319del)
NM_001114753.3(ENG):c.953C>G (p.Pro318Arg)
NM_001114753.3(ENG):c.970T>C (p.Ser324Pro)
NM_001114753.3(ENG):c.992-3C>T
NM_002890.3(RASA1):c.1017delinsTTAC (p.Gly340_Arg341insTyr)
NM_002890.3(RASA1):c.1022G>A (p.Arg341Gln)
NM_002890.3(RASA1):c.1049+5G>T rs1580307103
NM_002890.3(RASA1):c.1055T>C (p.Phe352Ser)
NM_002890.3(RASA1):c.1076A>T (p.Gln359Leu)
NM_002890.3(RASA1):c.110A>G (p.Lys37Arg)
NM_002890.3(RASA1):c.1115G>C (p.Cys372Ser)
NM_002890.3(RASA1):c.1141A>G (p.Asn381Asp) rs1060503437
NM_002890.3(RASA1):c.115C>G (p.Pro39Ala)
NM_002890.3(RASA1):c.1172G>A (p.Arg391Gln)
NM_002890.3(RASA1):c.1218C>A (p.Asn406Lys)
NM_002890.3(RASA1):c.1254-4A>T rs369061989
NM_002890.3(RASA1):c.1280G>A (p.Arg427Gln) rs755634472
NM_002890.3(RASA1):c.1290G>A (p.Gln430=) rs765869491
NM_002890.3(RASA1):c.1298A>C (p.Glu433Ala)
NM_002890.3(RASA1):c.1300G>A (p.Gly434Arg)
NM_002890.3(RASA1):c.1324C>T (p.Pro442Ser) rs532587037
NM_002890.3(RASA1):c.1352A>G (p.Asn451Ser) rs529871259
NM_002890.3(RASA1):c.1368C>T (p.Gly456=) rs774547215
NM_002890.3(RASA1):c.1390C>T (p.Arg464Cys)
NM_002890.3(RASA1):c.1409C>G (p.Ala470Gly) rs199894378
NM_002890.3(RASA1):c.143C>A (p.Pro48His) rs1580178676
NM_002890.3(RASA1):c.143C>G (p.Pro48Arg)
NM_002890.3(RASA1):c.146A>G (p.Tyr49Cys) rs1580178685
NM_002890.3(RASA1):c.1535G>A (p.Arg512Gln)
NM_002890.3(RASA1):c.1567A>G (p.Ser523Gly)
NM_002890.3(RASA1):c.1627A>G (p.Ile543Val)
NM_002890.3(RASA1):c.1651G>A (p.Glu551Lys) rs878854568
NM_002890.3(RASA1):c.1760A>G (p.Asn587Ser) rs894219060
NM_002890.3(RASA1):c.1772G>A (p.Arg591His)
NM_002890.3(RASA1):c.1777-3T>A rs1580380301
NM_002890.3(RASA1):c.1780A>G (p.Ser594Gly)
NM_002890.3(RASA1):c.1796A>C (p.His599Pro)
NM_002890.3(RASA1):c.17C>T (p.Ala6Val) rs1010729751
NM_002890.3(RASA1):c.1859T>C (p.Leu620Pro) rs1554049169
NM_002890.3(RASA1):c.187G>A (p.Gly63Ser)
NM_002890.3(RASA1):c.1888G>C (p.Ala630Pro) rs1580380538
NM_002890.3(RASA1):c.188G>T (p.Gly63Val) rs754945616
NM_002890.3(RASA1):c.190G>A (p.Gly64Arg) rs777805156
NM_002890.3(RASA1):c.1914G>T (p.Trp638Cys)
NM_002890.3(RASA1):c.1935-3T>C rs201249348
NM_002890.3(RASA1):c.1943C>T (p.Pro648Leu)
NM_002890.3(RASA1):c.1970C>T (p.Thr657Ile)
NM_002890.3(RASA1):c.2011+6T>A rs1554049237
NM_002890.3(RASA1):c.2020C>T (p.Arg674Cys) rs370631681
NM_002890.3(RASA1):c.202G>A (p.Gly68Arg) rs1580178771
NM_002890.3(RASA1):c.2134T>C (p.Tyr712His)
NM_002890.3(RASA1):c.2138C>G (p.Ser713Cys)
NM_002890.3(RASA1):c.2171G>A (p.Ser724Asn)
NM_002890.3(RASA1):c.2189T>C (p.Ile730Thr)
NM_002890.3(RASA1):c.2239C>A (p.Gln747Lys) rs1561322754
NM_002890.3(RASA1):c.2300C>T (p.Ser767Leu) rs763915835
NM_002890.3(RASA1):c.2366G>A (p.Arg789Gln)
NM_002890.3(RASA1):c.239C>T (p.Ala80Val)
NM_002890.3(RASA1):c.241C>G (p.Leu81Val)
NM_002890.3(RASA1):c.2449T>C (p.Ser817Pro)
NM_002890.3(RASA1):c.244G>A (p.Gly82Arg)
NM_002890.3(RASA1):c.244G>T (p.Gly82Trp)
NM_002890.3(RASA1):c.2461A>G (p.Ile821Val) rs1554049698
NM_002890.3(RASA1):c.248G>A (p.Gly83Glu) rs755788420
NM_002890.3(RASA1):c.248G>T (p.Gly83Val)
NM_002890.3(RASA1):c.253G>A (p.Gly85Arg)
NM_002890.3(RASA1):c.2574A>T (p.Lys858Asn)
NM_002890.3(RASA1):c.2582T>C (p.Met861Thr)
NM_002890.3(RASA1):c.2603+2dup rs1580394003
NM_002890.3(RASA1):c.2603C>T (p.Pro868Leu) rs138785106
NM_002890.3(RASA1):c.2638T>A (p.Ser880Thr) rs878854571
NM_002890.3(RASA1):c.2648A>G (p.His883Arg)
NM_002890.3(RASA1):c.2666C>A (p.Thr889Asn)
NM_002890.3(RASA1):c.2725A>G (p.Ile909Val) rs113316011
NM_002890.3(RASA1):c.2739G>T (p.Arg913=) rs375135791
NM_002890.3(RASA1):c.2747A>G (p.Asn916Ser) rs765747521
NM_002890.3(RASA1):c.2773A>G (p.Ile925Val) rs140786299
NM_002890.3(RASA1):c.2795T>C (p.Leu932Ser) rs1554050426
NM_002890.3(RASA1):c.27G>T (p.Glu9Asp)
NM_002890.3(RASA1):c.2942C>T (p.Pro981Leu) rs772714180
NM_002890.3(RASA1):c.2943G>A (p.Pro981=)
NM_002890.3(RASA1):c.303_326del (p.Val102_Gly109del)
NM_002890.3(RASA1):c.3060+1G>T rs1580418269
NM_002890.3(RASA1):c.3085A>G (p.Ile1029Val) rs377550978
NM_002890.3(RASA1):c.319G>C (p.Val107Leu) rs138308013
NM_002890.3(RASA1):c.338A>T (p.Asp113Val)
NM_002890.3(RASA1):c.346C>G (p.Leu116Val)
NM_002890.3(RASA1):c.34G>A (p.Gly12Ser)
NM_002890.3(RASA1):c.358C>T (p.Pro120Ser)
NM_002890.3(RASA1):c.370C>T (p.Leu124Phe) rs200883284
NM_002890.3(RASA1):c.395_396delinsTT (p.Gly132Val) rs1554038863
NM_002890.3(RASA1):c.407C>G (p.Pro136Arg)
NM_002890.3(RASA1):c.412C>T (p.Pro138Ser) rs775315018
NM_002890.3(RASA1):c.418C>A (p.Pro140Thr)
NM_002890.3(RASA1):c.431C>T (p.Pro144Leu)
NM_002890.3(RASA1):c.442G>T (p.Ala148Ser) rs765405975
NM_002890.3(RASA1):c.448C>T (p.Leu150Phe)
NM_002890.3(RASA1):c.453G>T (p.Gly151=)
NM_002890.3(RASA1):c.467G>T (p.Gly156Val) rs373892264
NM_002890.3(RASA1):c.473C>G (p.Ser158Cys)
NM_002890.3(RASA1):c.508G>A (p.Ala170Thr) rs761820082
NM_002890.3(RASA1):c.539+3A>G rs1561245221
NM_002890.3(RASA1):c.566C>T (p.Thr189Met)
NM_002890.3(RASA1):c.602C>T (p.Ser201Phe)
NM_002890.3(RASA1):c.64G>T (p.Gly22Cys) rs371413736
NM_002890.3(RASA1):c.656C>T (p.Ser219Leu)
NM_002890.3(RASA1):c.693-5A>G
NM_002890.3(RASA1):c.848G>A (p.Arg283His)
NM_002890.3(RASA1):c.854G>A (p.Arg285Gln)
NM_002890.3(RASA1):c.917T>C (p.Met306Thr) rs757272694
NM_002890.3(RASA1):c.92C>G (p.Pro31Arg)
NM_016204.4(GDF2):c.1023G>C (p.Trp341Cys) rs1555209063
NM_016204.4(GDF2):c.1040C>T (p.Ala347Val) rs782452633
NM_016204.4(GDF2):c.1063G>A (p.Glu355Lys) rs1200646207
NM_016204.4(GDF2):c.1207G>A (p.Val403Ile)
NM_016204.4(GDF2):c.1255G>A (p.Glu419Lys) rs782137039
NM_016204.4(GDF2):c.1267G>A (p.Val423Met) rs1358534877
NM_016204.4(GDF2):c.203G>A (p.Arg68His) rs200330818
NM_016204.4(GDF2):c.221G>A (p.Gly74Glu)
NM_016204.4(GDF2):c.286T>C (p.Tyr96His) rs142466901
NM_016204.4(GDF2):c.314C>T (p.Ala105Val)
NM_016204.4(GDF2):c.619G>T (p.Val207Leu) rs148262680
NM_016204.4(GDF2):c.637C>T (p.Arg213Cys) rs1555208917
NM_016204.4(GDF2):c.646C>T (p.Arg216Trp)
NM_016204.4(GDF2):c.64G>A (p.Gly22Arg) rs1555208692
NM_016204.4(GDF2):c.740G>T (p.Gly247Val) rs369219783
NM_016204.4(GDF2):c.76C>T (p.Gln26Ter) rs1555208696
NM_016204.4(GDF2):c.847G>A (p.Val283Met) rs138904328
NM_016204.4(GDF2):c.871G>A (p.Gly291Ser) rs201711410
NM_016204.4(GDF2):c.89G>A (p.Arg30Gln)
NM_016204.4(GDF2):c.89G>C (p.Arg30Pro) rs368827442
NM_016204.4(GDF2):c.930G>A (p.Ala310=)
NM_016204.4(GDF2):c.949C>T (p.Arg317Trp) rs559992144
NM_016204.4(GDF2):c.964G>A (p.Gly322Arg) rs782796080

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