ClinVar Miner

List of variants in gene ENG studied for capillary malformation

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 510
Download table as spreadsheet
HGVS dbSNP
ENG, 2-BP DEL, NT1153
ENG, 39-BP DEL, NT882
NC_000009.11:g.(?_130577951)_(130581121_?)del
NC_000009.11:g.(?_130577951)_(130582326_?)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.(?_130586563)_(130592126_?)dup
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_000009.11:g.(?_130605373)_(130605524_?)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.(?_127819612)_(127820047_?)dup
NC_000009.12:g.(?_127819612)_(127829837_?)del
NC_000009.12:g.(?_127824284)_(127824994_?)del
NC_000009.12:g.(?_127824284)_(127829847_?)del
NC_000009.12:g.(?_127824284)_(127854482_?)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.(?_127843088)_(127843251_?)del
NC_000009.12:g.(?_127843094)_(127843245_?)del
NC_000009.12:g.(?_127854269)_(127854482_?)del
NC_000009.12:g.(?_127854279)_(127854365_?)del
NC_000009.12:g.(?_127854279)_(127854482_?)del
NC_000009.12:g.127814980_127830815del
NM_000118.3(ENG):c.*10G>T rs1588572388
NM_000118.3(ENG):c.*134G>A rs745843047
NM_000118.3(ENG):c.*26G>C rs371104611
NM_000118.3(ENG):c.*368C>T rs539680928
NM_000118.3(ENG):c.*385C>A rs886063475
NM_000118.3(ENG):c.*487C>A rs886063474
NM_000118.3(ENG):c.*501G>A rs764451017
NM_000118.3(ENG):c.*508A>C rs138178682
NM_000118.3(ENG):c.*726C>T rs190129922
NM_000118.3(ENG):c.*758A>G rs72616667
NM_000118.3(ENG):c.-115G>C rs546892762
NM_000118.3(ENG):c.-127C>T rs1060501408
NM_000118.3(ENG):c.-158C>T rs41470844
NM_000118.3(ENG):c.-186G>A rs569618819
NM_000118.3(ENG):c.-188G>A rs961480381
NM_000118.3(ENG):c.-246T>C rs886063478
NM_000118.3(ENG):c.-289A>C rs538284289
NM_000118.3(ENG):c.-289A>T rs538284289
NM_000118.3(ENG):c.-338G>A rs534779092
NM_000118.3(ENG):c.-339C>T rs554349374
NM_000118.3(ENG):c.-343C>T rs543301425
NM_000118.3(ENG):c.-364G>A
NM_000118.3(ENG):c.-395C>A rs886063479
NM_000118.3(ENG):c.-54C>A rs2296702
NM_000118.3(ENG):c.-63C>T rs886063476
NM_000118.3(ENG):c.-70del rs886063477
NM_000118.3(ENG):c.-8_8del (p.Met1fs) rs1588604603
NM_000118.3(ENG):c.-98G>A rs923040659
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.1015_1024del (p.Ala339fs) rs1554810066
NM_000118.3(ENG):c.1019C>T (p.Pro340Leu) rs772135786
NM_000118.3(ENG):c.1020G>A (p.Pro340=) rs773748110
NM_000118.3(ENG):c.1024C>T (p.Gln342Ter) rs774429348
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.1056G>A (p.Pro352=) rs769530262
NM_000118.3(ENG):c.1067T>A (p.Met356Lys) rs138190783
NM_000118.3(ENG):c.1080_1083del (p.Thr361fs) rs863223540
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.1111dup (p.Val371fs) rs1554810041
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.119del (p.Gly40fs) rs369596004
NM_000118.3(ENG):c.121G>A (p.Glu41Lys) rs199675436
NM_000118.3(ENG):c.130T>G (p.Tyr44Asp) rs1554812271
NM_000118.3(ENG):c.137C>T (p.Thr46Ile) rs1393437924
NM_000118.3(ENG):c.145G>T (p.Val49Phe) rs1252348200
NM_000118.3(ENG):c.150G>A (p.Ser50=) rs377129516
NM_000118.3(ENG):c.155G>A (p.Gly52Asp) rs1564462765
NM_000118.3(ENG):c.159C>T (p.Cys53=) rs148475405
NM_000118.3(ENG):c.166C>T (p.Gln56Ter) rs1588596879
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.1780G>A (p.Gly594Ser) rs1060501409
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.1804del (p.Ile602fs) rs1085307435
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.185T>A (p.Leu62His) rs1060501424
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.1A>C (p.Met1Leu) rs1060501418
NM_000118.3(ENG):c.1A>G (p.Met1Val) rs1060501418
NM_000118.3(ENG):c.217A>G (p.Thr73Ala) rs1472137141
NM_000118.3(ENG):c.219+1G>A rs1554812253
NM_000118.3(ENG):c.219+23G>A rs200726108
NM_000118.3(ENG):c.219+25G>T rs7847860
NM_000118.3(ENG):c.219+3G>A rs1419279746
NM_000118.3(ENG):c.219G>A (p.Thr73=) rs755348996
NM_000118.3(ENG):c.220-1G>A rs1554810936
NM_000118.3(ENG):c.220-6C>A rs756342212
NM_000118.3(ENG):c.224del (p.Pro75fs) rs1554810932
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.229del (p.Gln77fs) rs1554810928
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.23T>C (p.Leu8Pro) rs1564466414
NM_000118.3(ENG):c.244del (p.Leu82fs) rs1554810921
NM_000118.3(ENG):c.247C>T (p.Gln83Ter) rs863223532
NM_000118.3(ENG):c.259C>T (p.Gln87Ter) rs730880096
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.2T>C (p.Met1Thr) rs267606783
NM_000118.3(ENG):c.2T>G (p.Met1Arg) rs267606783
NM_000118.3(ENG):c.306C>T (p.Asn102=) rs148098047
NM_000118.3(ENG):c.310A>G (p.Ser104Gly) rs757343854
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.348G>A (p.Leu116=) rs1205469132
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+4A>G rs1564457752
NM_000118.3(ENG):c.360+5G>A rs1060501417
NM_000118.3(ENG):c.360+5G>C rs1060501417
NM_000118.3(ENG):c.360C>A (p.Tyr120Ter) rs121918402
NM_000118.3(ENG):c.360C>T (p.Tyr120=) rs121918402
NM_000118.3(ENG):c.361-12_361-11del rs781079790
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.392del (p.Pro131fs) rs1554810510
NM_000118.3(ENG):c.393G>A (p.Pro131=) rs760121099
NM_000118.3(ENG):c.396_397delinsAA (p.Val133Ile) rs1554810507
NM_000118.3(ENG):c.397del (p.Val133fs) rs1588583640
NM_000118.3(ENG):c.405C>G (p.Thr135=) rs773521685
NM_000118.3(ENG):c.408del (p.Glu137fs) rs1554810506
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.524-15C>T rs201463582
NM_000118.3(ENG):c.524-2A>G rs1060501414
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.562C>T (p.Gln188Ter) rs863223537
NM_000118.3(ENG):c.565G>T (p.Asp189Tyr) rs147792018
NM_000118.3(ENG):c.572del (p.Gly191fs) rs1564456374
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.579G>A (p.Thr193=) rs769703434
NM_000118.3(ENG):c.581_592del (p.Leu194_Arg197del) rs1554810408
NM_000118.3(ENG):c.582C>T (p.Leu194=) rs140663846
NM_000118.3(ENG):c.583G>C (p.Glu195Gln) rs1255912441
NM_000118.3(ENG):c.587G>A (p.Trp196Ter) rs1588582870
NM_000118.3(ENG):c.588G>A (p.Trp196Ter) rs1588582860
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.614G>A (p.Arg205Gln) rs751778614
NM_000118.3(ENG):c.617G>C (p.Gly206Ala) rs201393380
NM_000118.3(ENG):c.621C>A (p.Cys207Ter) rs1440769928
NM_000118.3(ENG):c.627G>A (p.Leu209=) rs763087751
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.667del (p.Val223fs) rs1588582666
NM_000118.3(ENG):c.67+1G>A rs1554813783
NM_000118.3(ENG):c.67+7G>A rs1455679426
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.67del (p.Ser23fs) rs878853658
NM_000118.3(ENG):c.68-1G>A rs878853659
NM_000118.3(ENG):c.68-3C>G rs773334730
NM_000118.3(ENG):c.68-4A>G rs1564462843
NM_000118.3(ENG):c.68-9C>G rs200772068
NM_000118.3(ENG):c.680A>G (p.His227Arg) rs377548944
NM_000118.3(ENG):c.682_686del (p.Ser228fs) rs1085307430
NM_000118.3(ENG):c.683C>A (p.Ser228Ter) rs1452543778
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.690-1G>A rs1554810272
NM_000118.3(ENG):c.690-2A>T rs1564455970
NM_000118.3(ENG):c.690-4G>A rs762621671
NM_000118.3(ENG):c.690-59C>A rs369047677
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.722G>A (p.Ser241Asn) rs1060501411
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.736del (p.Asp246fs) rs1554810249
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.754A>T (p.Ile252Phe) rs377377549
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.780_789dup (p.Asp264fs) rs1588581846
NM_000118.3(ENG):c.782G>A (p.Trp261Ter) rs1060501420
NM_000118.3(ENG):c.782G>T (p.Trp261Leu) rs1060501420
NM_000118.3(ENG):c.788T>A (p.Ile263Asn) rs1085307431
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.808C>T (p.Gln270Ter) rs1554810215
NM_000118.3(ENG):c.815G>A (p.Trp272Ter) rs1588581785
NM_000118.3(ENG):c.816+1G>A rs111471193
NM_000118.3(ENG):c.816+6T>C rs759191907
NM_000118.3(ENG):c.817-1G>C rs1564455715
NM_000118.3(ENG):c.817-8A>G rs753576292
NM_000118.3(ENG):c.831C>A (p.Tyr277Ter) rs121918400
NM_000118.3(ENG):c.831C>G (p.Tyr277Ter) rs121918400
NM_000118.3(ENG):c.838A>T (p.Lys280Ter) rs1588581497
NM_000118.3(ENG):c.839A>G (p.Lys280Arg) rs774709924
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.899T>C (p.Leu300Pro) rs1335718486
NM_000118.3(ENG):c.900G>A (p.Leu300=) rs140155568
NM_000118.3(ENG):c.904G>T (p.Glu302Ter) rs1060501419
NM_000118.3(ENG):c.904dup (p.Glu302fs) rs1554810177
NM_000118.3(ENG):c.911G>A (p.Arg304Gln) rs753429934
NM_000118.3(ENG):c.911_918del (p.Arg304fs) rs1564455604
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+26_991+27insCCCCTC rs1554810143
NM_000118.3(ENG):c.991+2T>C rs1564455554
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.*461_*464AACT[1] rs41514846
NM_001114753.2(ENG):c.1029_1060delinsATGGTGG (p.Thr344fs) rs1064792934
NM_001114753.2(ENG):c.562dup (p.Gln188fs) rs1588582962
NM_001114753.3(ENG):c.*109C>T
NM_001114753.3(ENG):c.*320G>A
NM_001114753.3(ENG):c.*391G>A
NM_001114753.3(ENG):c.*424G>C
NM_001114753.3(ENG):c.*438G>A
NM_001114753.3(ENG):c.*449C>G
NM_001114753.3(ENG):c.*492G>A
NM_001114753.3(ENG):c.*4C>T
NM_001114753.3(ENG):c.*530T>A
NM_001114753.3(ENG):c.*533G>A
NM_001114753.3(ENG):c.*534C>T
NM_001114753.3(ENG):c.*558A>G
NM_001114753.3(ENG):c.*586C>T
NM_001114753.3(ENG):c.-227C>G
NM_001114753.3(ENG):c.-23G>A
NM_001114753.3(ENG):c.-249C>A
NM_001114753.3(ENG):c.-59C>T
NM_001114753.3(ENG):c.-90G>C
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.1124_1125del (p.Glu375fs) rs1554810037
NM_001114753.3(ENG):c.1134+92G>A
NM_001114753.3(ENG):c.1134G>C (p.Ala378=)
NM_001114753.3(ENG):c.116G>A (p.Arg39Lys)
NM_001114753.3(ENG):c.118G>T (p.Gly40Cys)
NM_001114753.3(ENG):c.120C>T (p.Gly40=) rs41522944
NM_001114753.3(ENG):c.142C>T (p.Gln48Ter)
NM_001114753.3(ENG):c.146del (p.Val49fs)
NM_001114753.3(ENG):c.149C>T (p.Ser50Leu)
NM_001114753.3(ENG):c.14C>T (p.Thr5Met) rs35400405
NM_001114753.3(ENG):c.159C>A (p.Cys53Ter)
NM_001114753.3(ENG):c.160G>A (p.Val54Met)
NM_001114753.3(ENG):c.164del (p.Ala55fs)
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.1807G>A (p.Gly603Arg)
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.1852+51C>G
NM_001114753.3(ENG):c.1853-18C>T
NM_001114753.3(ENG):c.1853-27C>T
NM_001114753.3(ENG):c.1853-9C>T
NM_001114753.3(ENG):c.1932C>T (p.Ile644=) rs181330955
NM_001114753.3(ENG):c.194A>G (p.His65Arg)
NM_001114753.3(ENG):c.1977G>A (p.Ter659=)
NM_001114753.3(ENG):c.207G>A (p.Leu69=) rs11545664
NM_001114753.3(ENG):c.208G>T (p.Glu70Ter)
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.219G>T (p.Thr73=)
NM_001114753.3(ENG):c.220-225_991+123del
NM_001114753.3(ENG):c.220-226_1134+331del
NM_001114753.3(ENG):c.220-988_1134+331del
NM_001114753.3(ENG):c.223C>T (p.Pro75Ser)
NM_001114753.3(ENG):c.239T>C (p.Leu80Pro)
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.298_299del (p.Ser100fs)
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.328C>T (p.Gln110Ter)
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.370del (p.Leu124fs)
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.39del (p.Leu14fs)
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.496del (p.Gln166fs)
NM_001114753.3(ENG):c.496dup (p.Gln166fs)
NM_001114753.3(ENG):c.497A>C (p.Gln166Pro)
NM_001114753.3(ENG):c.503TCC[4] (p.Leu170dup)
NM_001114753.3(ENG):c.523+1G>A
NM_001114753.3(ENG):c.523+229_991+123del
NM_001114753.3(ENG):c.524-13C>T
NM_001114753.3(ENG):c.524-1_689+1del
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.595_596dup (p.Thr200fs) rs1554810405
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.618C>A (p.Gly206=)
NM_001114753.3(ENG):c.620G>A (p.Cys207Tyr)
NM_001114753.3(ENG):c.620G>T (p.Cys207Phe)
NM_001114753.3(ENG):c.626T>A (p.Leu209Ter)
NM_001114753.3(ENG):c.627G>C (p.Leu209Phe)
NM_001114753.3(ENG):c.63dup (p.Thr22fs)
NM_001114753.3(ENG):c.640_643del (p.Gly214fs) rs864622666
NM_001114753.3(ENG):c.646A>G (p.Lys216Glu)
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.667dup (p.Val223fs)
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.68-4227_219+104del
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.690-2A>G
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.761_767dup (p.Pro257fs)
NM_001114753.3(ENG):c.763G>T (p.Gly255Cys)
NM_001114753.3(ENG):c.766C>T (p.Pro256Ser)
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.772del (p.Tyr258fs)
NM_001114753.3(ENG):c.774C>A (p.Tyr258Ter)
NM_001114753.3(ENG):c.774C>G (p.Tyr258Ter)
NM_001114753.3(ENG):c.776T>G (p.Val259Gly)
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.817-1G>A
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.896T>G (p.Leu299Arg)
NM_001114753.3(ENG):c.899_901delinsC (p.Leu300fs)
NM_001114753.3(ENG):c.8G>A (p.Arg3His)
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.923C>A (p.Ala308Asp)
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.967_968del (p.Val323fs)
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=)
Single allele

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