ClinVar Miner

List of variants studied for Hereditary hemorrhagic telangiectasia by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 475
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HGVS dbSNP
NC_000009.11:g.(?_130577951)_(130581121_?)del
NC_000009.11:g.(?_130577951)_(130582326_?)del
NC_000009.11:g.(?_130577951)_(130700109_?)del
NC_000009.11:g.(?_130578090_130581774del
NC_000009.11:g.(?_130578190)_(130592112_?)dup
NC_000009.11:g.(?_130578196)_(130592116_?)del
NC_000009.11:g.(?_130579560_130582216del
NC_000009.11:g.(?_130586573)_(130592116_?)dup
NC_000009.11:g.(?_130587069)_(130592116_?)del
NC_000009.11:g.(?_130605351)_(130616761_?)del
NC_000009.11:g.(?_130605353)_(130605544_?)del
NC_000009.11:g.(?_130605363)_(130605542_?)dup
NC_000009.12:g.(?_127815672)_(127854482_?)del
NC_000009.12:g.(?_127815907)_(127854365_?)del
NC_000009.12:g.(?_127815917)_(127854482_?)del
NC_000009.12:g.(?_127819602)_(127820057_?)del
NC_000009.12:g.(?_127819612)_(127820047_?)del
NC_000009.12:g.(?_127819612)_(127820047_?)dup
NC_000009.12:g.(?_127819612)_(127829837_?)del
NC_000009.12:g.(?_127819616)_(127820043_?)del
NC_000009.12:g.(?_127819622)_(127820037_?)del
NC_000009.12:g.(?_127824284)_(127824994_?)del
NC_000009.12:g.(?_127824284)_(127829847_?)del
NC_000009.12:g.(?_127824294)_(127824456_?)del
NC_000009.12:g.(?_127824294)_(127825367_?)dup
NC_000009.12:g.(?_127824294)_(127826683_?)del
NC_000009.12:g.(?_127825214)_(127826683_?)del
NC_000009.12:g.(?_127829681)_(127829833_?)del
NC_000009.12:g.(?_127843084)_(127843255_?)dup
NC_000009.12:g.(?_127854279)_(127854365_?)del
NC_000009.12:g.(?_127854279)_(127854482_?)del
NM_000118.3(ENG):c.-127C>T rs1060501408
NM_000118.3(ENG):c.-8_8del (p.Met1fs) rs1588604603
NM_000118.3(ENG):c.-9G>A rs368423516
NM_000118.3(ENG):c.1008C>T (p.Thr336=) rs766675335
NM_000118.3(ENG):c.1015G>A (p.Ala339Thr) rs761463410
NM_000118.3(ENG):c.1020G>A (p.Pro340=) rs773748110
NM_000118.3(ENG):c.1055C>T (p.Pro352Leu) rs1356571461
NM_000118.3(ENG):c.1056G>A (p.Pro352=) rs769530262
NM_000118.3(ENG):c.1067T>A (p.Met356Lys) rs138190783
NM_000118.3(ENG):c.1088G>C (p.Cys363Ser) rs1588580782
NM_000118.3(ENG):c.1095C>T (p.Asp365=) rs142803546
NM_000118.3(ENG):c.1098C>T (p.Asp366=) rs201497772
NM_000118.3(ENG):c.1110G>A (p.Leu370=) rs1588580725
NM_000118.3(ENG):c.111C>T (p.Pro37=) rs755626994
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.1134+9A>T rs200780733
NM_000118.3(ENG):c.1134G>A (p.Ala378=) rs1329127701
NM_000118.3(ENG):c.1135-7G>A rs201359896
NM_000118.3(ENG):c.1135-8C>T rs79426098
NM_000118.3(ENG):c.1154C>T (p.Thr385Met) rs199764615
NM_000118.3(ENG):c.1166_1168del (p.Phe389del) rs1588577016
NM_000118.3(ENG):c.1195_1196del (p.Arg399fs) rs1131691422
NM_000118.3(ENG):c.1195del (p.Arg399fs) rs1131691444
NM_000118.3(ENG):c.121G>A (p.Glu41Lys) rs199675436
NM_000118.3(ENG):c.1233C>T (p.Ser411=) rs137870512
NM_000118.3(ENG):c.1235G>A (p.Cys412Tyr) rs1554809513
NM_000118.3(ENG):c.1247dup (p.Ser417fs) rs1588576923
NM_000118.3(ENG):c.1268del (p.Asn423fs) rs1564453538
NM_000118.3(ENG):c.1273-4G>A rs373308042
NM_000118.3(ENG):c.1273-5C>T rs779103881
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.1293G>A (p.Ser431=) rs774036076
NM_000118.3(ENG):c.1299A>G (p.Ser433=) rs762387524
NM_000118.3(ENG):c.1302A>G (p.Ser434=) rs1588576596
NM_000118.3(ENG):c.1306C>T (p.Gln436Ter) rs1554809450
NM_000118.3(ENG):c.1309C>T (p.Arg437Trp) rs1434169817
NM_000118.3(ENG):c.130T>G (p.Tyr44Asp) rs1554812271
NM_000118.3(ENG):c.1311G>T (p.Arg437=) rs1554809448
NM_000118.3(ENG):c.1312A>T (p.Lys438Ter) rs863223536
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.1323C>T (p.His441=) rs751203937
NM_000118.3(ENG):c.1326C>A (p.Cys442Ter) rs1554809361
NM_000118.3(ENG):c.1327del (p.Leu443fs) rs1060501413
NM_000118.3(ENG):c.1335G>A (p.Met445Ile) rs777564305
NM_000118.3(ENG):c.1374A>G (p.Pro458=) rs34828244
NM_000118.3(ENG):c.137C>T (p.Thr46Ile) rs1393437924
NM_000118.3(ENG):c.1389C>T (p.Ala463=) rs200168633
NM_000118.3(ENG):c.1407G>A (p.Pro469=) rs41302657
NM_000118.3(ENG):c.1410del (p.Gln471fs) rs1085307433
NM_000118.3(ENG):c.1419C>T (p.Ser473=) rs561818608
NM_000118.3(ENG):c.1428+1G>A rs863223542
NM_000118.3(ENG):c.1429-9C>T rs370836025
NM_000118.3(ENG):c.1429-9_1429-6dup rs762494923
NM_000118.3(ENG):c.1437G>A (p.Val479=) rs754600063
NM_000118.3(ENG):c.1440C>A (p.Ser480=) rs1588575160
NM_000118.3(ENG):c.1446C>T (p.Ser482=) rs143945873
NM_000118.3(ENG):c.1447G>A (p.Val483Ile) rs141330288
NM_000118.3(ENG):c.1452C>T (p.Ser484=) rs115450389
NM_000118.3(ENG):c.1453G>T (p.Glu485Ter) rs997074986
NM_000118.3(ENG):c.1455G>A (p.Glu485=) rs150456852
NM_000118.3(ENG):c.145G>T (p.Val49Phe) rs1252348200
NM_000118.3(ENG):c.1465C>T (p.Gln489Ter) rs1057521648
NM_000118.3(ENG):c.1469T>C (p.Leu490Ser) rs763475207
NM_000118.3(ENG):c.1509del (p.Val504fs) rs1564452685
NM_000118.3(ENG):c.150G>A (p.Ser50=) rs377129516
NM_000118.3(ENG):c.1510G>A (p.Val504Met) rs116330805
NM_000118.3(ENG):c.1533G>A (p.Ala511=) rs140760635
NM_000118.3(ENG):c.1572C>T (p.Pro524=) rs760682477
NM_000118.3(ENG):c.1585C>T (p.Arg529Cys) rs745316066
NM_000118.3(ENG):c.1586G>A (p.Arg529His) rs863223538
NM_000118.3(ENG):c.159C>T (p.Cys53=) rs148475405
NM_000118.3(ENG):c.1632C>T (p.Thr544=) rs117510900
NM_000118.3(ENG):c.1646G>A (p.Cys549Tyr) rs1060501421
NM_000118.3(ENG):c.166C>T (p.Gln56Ter) rs1588596879
NM_000118.3(ENG):c.1672G>A (p.Gly558Arg) rs373230507
NM_000118.3(ENG):c.1684C>T (p.Gln562Ter) rs1588574749
NM_000118.3(ENG):c.1686+1G>A rs1554809228
NM_000118.3(ENG):c.1686+6T>G rs369766351
NM_000118.3(ENG):c.1686+8G>C rs372670034
NM_000118.3(ENG):c.1687-1G>T rs1554809106
NM_000118.3(ENG):c.1687delG rs1564452075
NM_000118.3(ENG):c.1689_1699del (p.Glu563Aspfs)
NM_000118.3(ENG):c.1695T>C (p.His565=) rs750637713
NM_000118.3(ENG):c.1698G>A (p.Arg566=) rs1554809103
NM_000118.3(ENG):c.1712G>A (p.Arg571His) rs138799379
NM_000118.3(ENG):c.1715T>A (p.Leu572Ter) rs863223539
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.1761C>T (p.Leu587=) rs546872552
NM_000118.3(ENG):c.1762G>A (p.Val588Ile) rs201768056
NM_000118.3(ENG):c.1770C>T (p.Pro590=) rs370943570
NM_000118.3(ENG):c.179C>A (p.Ala60Asp) rs146100407
NM_000118.3(ENG):c.179_180delinsAA (p.Ala60Glu) rs1060504230
NM_000118.3(ENG):c.1806C>T (p.Ile602=) rs373002544
NM_000118.3(ENG):c.180C>A (p.Ala60=) rs146188464
NM_000118.3(ENG):c.1844C>G (p.Ser615Trp) rs148002300
NM_000118.3(ENG):c.1845G>T (p.Ser615=) rs759950184
NM_000118.3(ENG):c.1850C>T (p.Thr617Met) rs201031046
NM_000118.3(ENG):c.1873C>G (p.Gln625Glu) rs147188969
NM_000118.3(ENG):c.187G>T (p.Glu63Ter) rs1588596830
NM_000118.3(ENG):c.219+1G>A rs1554812253
NM_000118.3(ENG):c.219G>A (p.Thr73=) rs755348996
NM_000118.3(ENG):c.220-1G>A rs1554810936
NM_000118.3(ENG):c.225G>A (p.Pro75=) rs116146060
NM_000118.3(ENG):c.229C>T (p.Gln77Ter) rs1588585997
NM_000118.3(ENG):c.232C>T (p.Leu78=) rs1060504229
NM_000118.3(ENG):c.234G>A (p.Leu78=) rs115675061
NM_000118.3(ENG):c.247C>T (p.Gln83Ter) rs863223532
NM_000118.3(ENG):c.277C>T (p.Arg93Ter) rs886039506
NM_000118.3(ENG):c.280G>T (p.Glu94Ter) rs1588585941
NM_000118.3(ENG):c.291G>C (p.Leu97=) rs376641299
NM_000118.3(ENG):c.306C>T (p.Asn102=) rs148098047
NM_000118.3(ENG):c.314T>A (p.Val105Asp) rs1588585880
NM_000118.3(ENG):c.321G>T (p.Leu107=) rs767907933
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+1G>A rs886039505
NM_000118.3(ENG):c.360+5G>A rs1060501417
NM_000118.3(ENG):c.360C>A (p.Tyr120Ter) rs121918402
NM_000118.3(ENG):c.388C>T (p.Pro130Ser) rs199840979
NM_000118.3(ENG):c.392C>T (p.Pro131Leu) rs139398993
NM_000118.3(ENG):c.393G>A (p.Pro131=) rs760121099
NM_000118.3(ENG):c.397del (p.Val133fs) rs1588583640
NM_000118.3(ENG):c.405C>G (p.Thr135=) rs773521685
NM_000118.3(ENG):c.41T>C (p.Leu14Pro) rs1554813788
NM_000118.3(ENG):c.447G>C (p.Trp149Cys) rs878853657
NM_000118.3(ENG):c.456G>A (p.Glu152=) rs1588583553
NM_000118.3(ENG):c.488_491del (p.Asn163fs) rs1588583530
NM_000118.3(ENG):c.498G>C (p.Gln166His) rs1167818567
NM_000118.3(ENG):c.507C>T (p.Leu169=) rs750014839
NM_000118.3(ENG):c.511C>T (p.Arg171Ter) rs1554810490
NM_000118.3(ENG):c.523G>T (p.Ala175Ser) rs1588583488
NM_000118.3(ENG):c.524-2A>G rs1060501414
NM_000118.3(ENG):c.534_536del (p.Leu179del) rs1285249384
NM_000118.3(ENG):c.562C>T (p.Gln188Ter) rs863223537
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.579G>A (p.Thr193=) rs769703434
NM_000118.3(ENG):c.582C>T (p.Leu194=) rs140663846
NM_000118.3(ENG):c.587G>A (p.Trp196Ter) rs1588582870
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.595C>T (p.Arg199Cys) rs752195587
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.640G>A (p.Gly214Ser) rs150932144
NM_000118.3(ENG):c.659T>C (p.Ile220Thr) rs1588582695
NM_000118.3(ENG):c.662T>C (p.Leu221Pro) rs1554810378
NM_000118.3(ENG):c.67+7G>A rs1455679426
NM_000118.3(ENG):c.675G>A (p.Pro225=) rs757608428
NM_000118.3(ENG):c.68-1G>A rs878853659
NM_000118.3(ENG):c.68-9C>G rs200772068
NM_000118.3(ENG):c.684G>A (p.Ser228=) rs368752783
NM_000118.3(ENG):c.686C>A (p.Ala229Asp) rs971190119
NM_000118.3(ENG):c.687C>T (p.Ala229=) rs376919650
NM_000118.3(ENG):c.689+1G>A rs1588582594
NM_000118.3(ENG):c.690-2A>T rs1564455970
NM_000118.3(ENG):c.690-4G>A rs762621671
NM_000118.3(ENG):c.690-5C>T rs374628465
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.69T>C (p.Ser23=) rs202048202
NM_000118.3(ENG):c.713T>A (p.Val238Glu) rs1060501415
NM_000118.3(ENG):c.715G>T (p.Glu239Ter) rs1064794220
NM_000118.3(ENG):c.715dup (p.Glu239fs) rs1554810257
NM_000118.3(ENG):c.721_725del (p.Ser241fs) rs1064794219
NM_000118.3(ENG):c.727G>A (p.Ala243Thr) rs761827492
NM_000118.3(ENG):c.732C>T (p.Pro244=) rs112262663
NM_000118.3(ENG):c.733G>A (p.Gly245Arg) rs762569294
NM_000118.3(ENG):c.741C>T (p.Leu247=) rs201457707
NM_000118.3(ENG):c.742G>A (p.Asp248Asn) rs775160533
NM_000118.3(ENG):c.743del (p.Asp248fs) rs1588581961
NM_000118.3(ENG):c.753_781del (p.Ile252fs) rs1588581867
NM_000118.3(ENG):c.765del (p.Tyr258fs) rs1554810232
NM_000118.3(ENG):c.771del (p.Tyr258fs) rs1588581902
NM_000118.3(ENG):c.771dup (p.Tyr258fs) rs1588581902
NM_000118.3(ENG):c.774C>T (p.Tyr258=) rs537154767
NM_000118.3(ENG):c.776del (p.Val259fs) rs1588581880
NM_000118.3(ENG):c.799_804del (p.His267_Asn268del) rs1588581812
NM_000118.3(ENG):c.7C>T (p.Arg3Cys) rs139334561
NM_000118.3(ENG):c.806T>C (p.Met269Thr) rs752331196
NM_000118.3(ENG):c.815G>A (p.Trp272Ter) rs1588581785
NM_000118.3(ENG):c.817-1G>C rs1564455715
NM_000118.3(ENG):c.817-8A>G rs753576292
NM_000118.3(ENG):c.850G>A (p.Glu284Lys) rs372045549
NM_000118.3(ENG):c.863G>A (p.Arg288His) rs770328302
NM_000118.3(ENG):c.880_881del (p.Asp294fs) rs886042916
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.900G>A (p.Leu300=) rs140155568
NM_000118.3(ENG):c.911G>A (p.Arg304Gln) rs753429934
NM_000118.3(ENG):c.954G>A (p.Pro318=) rs149590262
NM_000118.3(ENG):c.975T>G (p.Leu325=) rs776872127
NM_000118.3(ENG):c.983_984delinsAG (p.Ser328Ter) rs1588581338
NM_000118.3(ENG):c.990C>T (p.Cys330=) rs369202854
NM_000118.3(ENG):c.991+2T>G rs1564455554
NM_000118.3(ENG):c.991G>A (p.Gly331Ser) rs1060501410
NM_000118.3(ENG):c.992-2A>G rs1588580932
NM_000118.3(ENG):c.992-6C>T rs756890201
NM_000118.3(ENG):c.996T>C (p.Gly332=) rs759964114
NM_000118.3(ENG):c.999G>A (p.Arg333=) rs371174838
NM_001114753.2(ENG):c.562dup (p.Gln188fs) rs1588582962
NM_001114753.3(ENG):c.1002G>A (p.Leu334=)
NM_001114753.3(ENG):c.1005_1006insGT (p.Thr336fs)
NM_001114753.3(ENG):c.1023C>A (p.Ile341=)
NM_001114753.3(ENG):c.1026G>T (p.Gln342His)
NM_001114753.3(ENG):c.1027A>G (p.Thr343Ala)
NM_001114753.3(ENG):c.1029C>T (p.Thr343=) rs3739817
NM_001114753.3(ENG):c.1029_1030delinsTC (p.Thr344Pro)
NM_001114753.3(ENG):c.1060C>T (p.Leu354=) rs36092484
NM_001114753.3(ENG):c.1063C>T (p.Leu355Phe)
NM_001114753.3(ENG):c.1067T>C (p.Met356Thr)
NM_001114753.3(ENG):c.108C>T (p.Gly36=)
NM_001114753.3(ENG):c.1093G>A (p.Asp365Asn)
NM_001114753.3(ENG):c.1096G>C (p.Asp366His) rs1800956
NM_001114753.3(ENG):c.1109T>A (p.Leu370Gln)
NM_001114753.3(ENG):c.1110_1115dup (p.Val371_Leu372dup)
NM_001114753.3(ENG):c.1121_1124del (p.Lys374fs) rs1064793734
NM_001114753.3(ENG):c.1134+92G>A
NM_001114753.3(ENG):c.1134G>C (p.Ala378=)
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.1200T>C (p.Gly400=)
NM_001114753.3(ENG):c.1203C>T (p.Asp401=)
NM_001114753.3(ENG):c.1208T>C (p.Phe403Ser)
NM_001114753.3(ENG):c.120C>T (p.Gly40=) rs41522944
NM_001114753.3(ENG):c.1234T>G (p.Cys412Gly)
NM_001114753.3(ENG):c.1236T>A (p.Cys412Ter)
NM_001114753.3(ENG):c.1238del (p.Gly413fs)
NM_001114753.3(ENG):c.1241T>A (p.Met414Lys)
NM_001114753.3(ENG):c.1258A>G (p.Met420Val)
NM_001114753.3(ENG):c.1272+8C>A
NM_001114753.3(ENG):c.1273-10A>G
NM_001114753.3(ENG):c.1273-2A>G rs373842615
NM_001114753.3(ENG):c.1273-4_1273-3delinsAA
NM_001114753.3(ENG):c.1276G>A (p.Val426Met)
NM_001114753.3(ENG):c.1276_1279delinsATAAA (p.Val426fs)
NM_001114753.3(ENG):c.1290G>T (p.Leu430=)
NM_001114753.3(ENG):c.1295G>A (p.Ser432Asn)
NM_001114753.3(ENG):c.1295G>C (p.Ser432Thr)
NM_001114753.3(ENG):c.1311+5G>A
NM_001114753.3(ENG):c.1311G>A (p.Arg437=)
NM_001114753.3(ENG):c.1312-10C>T
NM_001114753.3(ENG):c.1312-12G>A
NM_001114753.3(ENG):c.1312-4C>G
NM_001114753.3(ENG):c.1333dup (p.Met445fs)
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.1426C>T (p.Gln476Ter)
NM_001114753.3(ENG):c.1427A>G (p.Gln476Arg)
NM_001114753.3(ENG):c.1428+8G>A
NM_001114753.3(ENG):c.1429-5T>C
NM_001114753.3(ENG):c.142C>T (p.Gln48Ter)
NM_001114753.3(ENG):c.1434_1435del (p.Arg478fs) rs1564452747
NM_001114753.3(ENG):c.1450_1451del (p.Ser484fs)
NM_001114753.3(ENG):c.1470dup (p.Asp491fs)
NM_001114753.3(ENG):c.1472_1475del (p.Asp491fs)
NM_001114753.3(ENG):c.1485G>A (p.Leu495=)
NM_001114753.3(ENG):c.1490T>A (p.Leu497Ter)
NM_001114753.3(ENG):c.149C>T (p.Ser50Leu)
NM_001114753.3(ENG):c.14C>T (p.Thr5Met) rs35400405
NM_001114753.3(ENG):c.1512G>A (p.Val504=)
NM_001114753.3(ENG):c.1530G>A (p.Arg510=)
NM_001114753.3(ENG):c.1531del (p.Ala511fs)
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.1584G>A (p.Pro528=)
NM_001114753.3(ENG):c.159C>A (p.Cys53Ter)
NM_001114753.3(ENG):c.160G>A (p.Val54Met)
NM_001114753.3(ENG):c.1611C>T (p.Tyr537=)
NM_001114753.3(ENG):c.1626dup (p.Lys543fs)
NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser) rs142896669
NM_001114753.3(ENG):c.1637C>T (p.Thr546Ile)
NM_001114753.3(ENG):c.1650G>A (p.Thr550=)
NM_001114753.3(ENG):c.1674G>C (p.Gly558=)
NM_001114753.3(ENG):c.1675del (p.Ser559fs)
NM_001114753.3(ENG):c.1678C>T (p.Gln560Ter)
NM_001114753.3(ENG):c.1686+5G>A
NM_001114753.3(ENG):c.1686+8G>A
NM_001114753.3(ENG):c.1687-2A>G
NM_001114753.3(ENG):c.1687G>T (p.Glu563Ter)
NM_001114753.3(ENG):c.1695T>A (p.His565Gln)
NM_001114753.3(ENG):c.1695del (p.His565fs)
NM_001114753.3(ENG):c.1698del (p.Thr567fs)
NM_001114753.3(ENG):c.1710G>T (p.Met570Ile)
NM_001114753.3(ENG):c.1711C>T (p.Arg571Cys) rs764262721
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.1741+79G>A
NM_001114753.3(ENG):c.1742-10C>T
NM_001114753.3(ENG):c.1742-9C>T
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.1794T>C (p.Gly598=) rs41358947
NM_001114753.3(ENG):c.1815G>A (p.Leu605=)
NM_001114753.3(ENG):c.1836C>T (p.Tyr612=)
NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu) rs148002300
NM_001114753.3(ENG):c.1851G>A (p.Thr617=)
NM_001114753.3(ENG):c.1852+11C>T
NM_001114753.3(ENG):c.1852+42C>T
NM_001114753.3(ENG):c.194A>G (p.His65Arg)
NM_001114753.3(ENG):c.207G>A (p.Leu69=) rs11545664
NM_001114753.3(ENG):c.214C>T (p.Pro72Ser)
NM_001114753.3(ENG):c.218C>T (p.Thr73Met)
NM_001114753.3(ENG):c.219+22C>T rs370257876
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.250G>C (p.Ala84Pro)
NM_001114753.3(ENG):c.255C>T (p.Ser85=)
NM_001114753.3(ENG):c.277dup (p.Arg93fs)
NM_001114753.3(ENG):c.278G>A (p.Arg93Gln)
NM_001114753.3(ENG):c.285G>A (p.Val95=)
NM_001114753.3(ENG):c.290T>G (p.Leu97Arg)
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.360+1G>C
NM_001114753.3(ENG):c.360+1G>T
NM_001114753.3(ENG):c.373G>C (p.Val125Leu)
NM_001114753.3(ENG):c.374T>C (p.Val125Ala) rs750115837
NM_001114753.3(ENG):c.375_378dup (p.Phe127fs)
NM_001114753.3(ENG):c.405dup (p.Thr136fs)
NM_001114753.3(ENG):c.413T>C (p.Leu138Pro)
NM_001114753.3(ENG):c.417A>C (p.Pro139=)
NM_001114753.3(ENG):c.442G>C (p.Glu148Gln)
NM_001114753.3(ENG):c.461dup (p.Ile156fs)
NM_001114753.3(ENG):c.468del (p.Thr157fs)
NM_001114753.3(ENG):c.470C>T (p.Thr157Ile)
NM_001114753.3(ENG):c.494C>T (p.Pro165Leu)
NM_001114753.3(ENG):c.496dup (p.Gln166fs)
NM_001114753.3(ENG):c.497A>C (p.Gln166Pro)
NM_001114753.3(ENG):c.523+1G>A
NM_001114753.3(ENG):c.527del (p.Gln176fs)
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.571_573delinsTG (p.Gly191fs)
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp) rs41322046
NM_001114753.3(ENG):c.577_588delinsGT (p.Thr193fs)
NM_001114753.3(ENG):c.586T>A (p.Trp196Arg)
NM_001114753.3(ENG):c.590G>A (p.Arg197Gln)
NM_001114753.3(ENG):c.596G>A (p.Arg199His) rs548424658
NM_001114753.3(ENG):c.600_603dup (p.Ala202fs)
NM_001114753.3(ENG):c.606C>T (p.Ala202=)
NM_001114753.3(ENG):c.613C>T (p.Arg205Trp)
NM_001114753.3(ENG):c.615G>T (p.Arg205=)
NM_001114753.3(ENG):c.616_617insCTCCA (p.Gly206fs)
NM_001114753.3(ENG):c.617del (p.Gly206fs)
NM_001114753.3(ENG):c.626T>A (p.Leu209Ter)
NM_001114753.3(ENG):c.627G>C (p.Leu209Phe)
NM_001114753.3(ENG):c.640_643del (p.Gly214fs) rs864622666
NM_001114753.3(ENG):c.653C>T (p.Ala218Val)
NM_001114753.3(ENG):c.654G>A (p.Ala218=)
NM_001114753.3(ENG):c.654G>C (p.Ala218=)
NM_001114753.3(ENG):c.654_655del (p.Ile220fs)
NM_001114753.3(ENG):c.657_658del (p.Ile220fs)
NM_001114753.3(ENG):c.663G>A (p.Leu221=)
NM_001114753.3(ENG):c.668_685del (p.Val223_Ser228del)
NM_001114753.3(ENG):c.672G>A (p.Leu224=)
NM_001114753.3(ENG):c.674C>T (p.Pro225Leu)
NM_001114753.3(ENG):c.674del (p.Pro225fs)
NM_001114753.3(ENG):c.682T>A (p.Ser228Thr)
NM_001114753.3(ENG):c.688G>A (p.Gly230Arg)
NM_001114753.3(ENG):c.689+2T>A
NM_001114753.3(ENG):c.68G>C (p.Ser23Thr)
NM_001114753.3(ENG):c.690-1G>C
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.705G>A (p.Thr235=)
NM_001114753.3(ENG):c.705G>C (p.Thr235=)
NM_001114753.3(ENG):c.707T>A (p.Val236Glu)
NM_001114753.3(ENG):c.708G>A (p.Val236=)
NM_001114753.3(ENG):c.729A>C (p.Ala243=)
NM_001114753.3(ENG):c.747C>T (p.Ala249=)
NM_001114753.3(ENG):c.748G>A (p.Val250Ile)
NM_001114753.3(ENG):c.752_768del (p.Leu251fs)
NM_001114753.3(ENG):c.753C>T (p.Leu251=)
NM_001114753.3(ENG):c.755T>C (p.Ile252Thr)
NM_001114753.3(ENG):c.766_776del (p.Pro256fs)
NM_001114753.3(ENG):c.767_786del (p.Pro256fs)
NM_001114753.3(ENG):c.768C>T (p.Pro256=)
NM_001114753.3(ENG):c.774C>A (p.Tyr258Ter)
NM_001114753.3(ENG):c.777_778dup (p.Ser260fs)
NM_001114753.3(ENG):c.786C>T (p.Leu262=)
NM_001114753.3(ENG):c.787_789del (p.Ile263del)
NM_001114753.3(ENG):c.792C>T (p.Asp264=)
NM_001114753.3(ENG):c.806T>A (p.Met269Lys)
NM_001114753.3(ENG):c.806T>G (p.Met269Arg)
NM_001114753.3(ENG):c.817-5A>G
NM_001114753.3(ENG):c.818C>T (p.Thr273Ile) rs727503038
NM_001114753.3(ENG):c.819C>T (p.Thr273=)
NM_001114753.3(ENG):c.820A>G (p.Thr274Ala)
NM_001114753.3(ENG):c.821C>T (p.Thr274Ile)
NM_001114753.3(ENG):c.822T>C (p.Thr274=)
NM_001114753.3(ENG):c.829T>C (p.Tyr277His)
NM_001114753.3(ENG):c.831C>T (p.Tyr277=)
NM_001114753.3(ENG):c.841A>G (p.Ile281Val)
NM_001114753.3(ENG):c.863_867dup (p.Phe290fs)
NM_001114753.3(ENG):c.866G>A (p.Gly289Asp)
NM_001114753.3(ENG):c.867C>T (p.Gly289=)
NM_001114753.3(ENG):c.889C>G (p.Gln297Glu)
NM_001114753.3(ENG):c.901G>C (p.Gly301Arg)
NM_001114753.3(ENG):c.909C>T (p.Ala303=) rs200306464
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.942C>T (p.Phe314=)
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.991+8C>A
NM_001114753.3(ENG):c.992-3C>T
NM_001114753.3(ENG):c.992-5C>A
NM_001114753.3(ENG):c.9C>T (p.Arg3=)

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