ClinVar Miner

List of variants reported as pathogenic for capillary malformation by Invitae

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 367
Download table as spreadsheet
HGVS dbSNP
NC_000005.10:g.(?_87268432)_(87353255_?)del
NC_000005.10:g.(?_87268442)_(87353245_?)del
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.(?_130578196)_(130592116_?)del
NC_000009.11:g.(?_130579560_130582216del
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.(?_127815012)_(127854773_?)del
NC_000009.12:g.(?_127815662)_(127820057_?)del
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)_(127829837_?)del
NC_000009.12:g.(?_127819616)_(127820043_?)del
NC_000009.12:g.(?_127819622)_(127820037_?)del
NC_000009.12:g.(?_127824284)_(127854482_?)del
NC_000009.12:g.(?_127824294)_(127824456_?)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_000012.11:g.(?_52297387_52306941del
NC_000012.11:g.(?_52306239)_(52314697_?)del
NC_000012.11:g.52308281_52308282insAlu
NC_000012.12:g.(?_51912465)_(51912545_?)del
NC_000012.12:g.(?_51912465)_(51920903_?)del
NC_000012.12:g.(?_51913079)_(51913790_?)del
NC_000012.12:g.(?_51913089)_(51916243_?)del
NC_000012.12:g.(?_51913539)_(51919135_?)del
NC_000012.12:g.(?_51913954)_(51919135_?)del
NC_000012.12:g.(?_51920691)_(51920903_?)del
NC_000012.12:g.(?_51920739)_(51920913_?)del
NC_000012.12:g.(?_51920759)_(51923361_?)del
NM_000020.2(ACVRL1):c.1036_1040del (p.Ile346fs) rs1565594524
NM_000020.2(ACVRL1):c.1042del (p.Asp348fs) rs1565594536
NM_000020.2(ACVRL1):c.1046T>C (p.Leu349Pro) rs765895870
NM_000020.2(ACVRL1):c.1048G>C (p.Gly350Arg) rs1565594547
NM_000020.2(ACVRL1):c.1055C>A (p.Ala352Asp) rs1085307415
NM_000020.2(ACVRL1):c.1120C>T (p.Arg374Trp) rs28936401
NM_000020.2(ACVRL1):c.1121G>A (p.Arg374Gln) rs1060503248
NM_000020.2(ACVRL1):c.1124A>G (p.Tyr375Cys) rs1085307416
NM_000020.2(ACVRL1):c.1135G>A (p.Glu379Lys) rs1131691686
NM_000020.2(ACVRL1):c.1147G>T (p.Glu383Ter) rs148057374
NM_000020.2(ACVRL1):c.1217G>A (p.Trp406Ter) rs1060503235
NM_000020.2(ACVRL1):c.1221G>T (p.Glu407Asp) rs1565595129
NM_000020.2(ACVRL1):c.1231C>T (p.Arg411Trp) rs121909287
NM_000020.2(ACVRL1):c.1232G>C (p.Arg411Pro) rs121909284
NM_000020.2(ACVRL1):c.1246+1G>A rs1565595176
NM_000020.2(ACVRL1):c.1250_1269del (p.Ile417fs) rs1555153796
NM_000020.2(ACVRL1):c.1321G>A (p.Val441Met) rs1565596498
NM_000020.2(ACVRL1):c.1323_1324dup (p.Val442fs) rs1555153830
NM_000020.2(ACVRL1):c.1336C>T (p.Gln446Ter) rs1064794217
NM_000020.2(ACVRL1):c.1377+1G>A rs863223406
NM_000020.2(ACVRL1):c.1377+2T>G rs1555153854
NM_000020.2(ACVRL1):c.1378-216C>G rs111710113
NM_000020.2(ACVRL1):c.1413C>A (p.Cys471Ter) rs1301762186
NM_000020.2(ACVRL1):c.1435C>T (p.Arg479Ter) rs1057517944
NM_000020.2(ACVRL1):c.1436G>A (p.Arg479Gln) rs1085307426
NM_000020.2(ACVRL1):c.1436G>C (p.Arg479Pro) rs1085307426
NM_000020.2(ACVRL1):c.145del (p.Ala49fs) rs863223415
NM_000020.2(ACVRL1):c.145dup (p.Ala49fs) rs863223415
NM_000020.2(ACVRL1):c.150G>T (p.Trp50Cys) rs121909285
NM_000020.2(ACVRL1):c.183del (p.Arg61fs) rs1060503246
NM_000020.2(ACVRL1):c.190C>T (p.Gln64Ter) rs1592221728
NM_000020.2(ACVRL1):c.190del (p.Gln64fs) rs1060503241
NM_000020.2(ACVRL1):c.199C>T (p.Arg67Trp) rs1085307405
NM_000020.2(ACVRL1):c.200G>A (p.Arg67Gln) rs863223414
NM_000020.2(ACVRL1):c.206G>T (p.Cys69Phe) rs1318118188
NM_000020.2(ACVRL1):c.270C>A (p.Cys90Ter) rs556168617
NM_000020.2(ACVRL1):c.313+1G>T rs1555152548
NM_000020.2(ACVRL1):c.406_409del (p.Gly136fs) rs863223416
NM_000020.2(ACVRL1):c.41dup (p.Met15fs) rs1060503236
NM_000020.2(ACVRL1):c.430C>T (p.Arg144Ter) rs758683062
NM_000020.2(ACVRL1):c.525+1G>A rs1555152710
NM_000020.2(ACVRL1):c.526-1G>A rs1565593274
NM_000020.2(ACVRL1):c.540_541insA (p.Asp181fs) rs1555152774
NM_000020.2(ACVRL1):c.542_545del (p.Asp181fs) rs1555152771
NM_000020.2(ACVRL1):c.573del (p.Phe192fs) rs1555152786
NM_000020.2(ACVRL1):c.58C>T (p.Gln20Ter) rs1555152345
NM_000020.2(ACVRL1):c.601C>T (p.Gln201Ter) rs1318446539
NM_000020.2(ACVRL1):c.625+2T>C rs1592223028
NM_000020.2(ACVRL1):c.641del (p.Gly214fs) rs1555152909
NM_000020.2(ACVRL1):c.651G>A (p.Trp217Ter) rs1592223399
NM_000020.2(ACVRL1):c.706G>A (p.Glu236Lys) rs1592223490
NM_000020.2(ACVRL1):c.772G>A (p.Gly258Ser) rs1555152966
NM_000020.2(ACVRL1):c.808_820dup (p.Trp274Ter) rs1555153077
NM_000020.2(ACVRL1):c.822G>A (p.Trp274Ter) rs757645341
NM_000020.2(ACVRL1):c.841G>T (p.Glu281Ter) rs779485996
NM_000020.2(ACVRL1):c.853C>T (p.Leu285Phe) rs1085307410
NM_000020.2(ACVRL1):c.889del (p.His297fs) rs1060503245
NM_000020.2(ACVRL1):c.914C>T (p.Ser305Phe) rs1555153126
NM_000020.2(ACVRL1):c.924C>A (p.Cys308Ter) rs1555153131
NM_000020.2(ACVRL1):c.940C>T (p.His314Tyr) rs1565594311
NM_000020.2(ACVRL1):c.955G>C (p.Gly319Arg) rs1085307414
NM_000020.2(ACVRL1):c.998G>T (p.Ser333Ile) rs863223413
NM_000020.3(ACVRL1):c.1010del (p.Leu337fs)
NM_000020.3(ACVRL1):c.1015A>T (p.Lys339Ter)
NM_000020.3(ACVRL1):c.102C>A (p.Cys34Ter)
NM_000020.3(ACVRL1):c.1031G>A (p.Cys344Tyr) rs28936688
NM_000020.3(ACVRL1):c.1043_1048+1dup
NM_000020.3(ACVRL1):c.1055del (p.Ala352fs)
NM_000020.3(ACVRL1):c.1069C>T (p.Gln357Ter)
NM_000020.3(ACVRL1):c.1132C>T (p.Pro378Ser) rs959973779
NM_000020.3(ACVRL1):c.1153_1157dup (p.Thr387fs)
NM_000020.3(ACVRL1):c.115_116del (p.Pro39fs)
NM_000020.3(ACVRL1):c.1196G>A (p.Trp399Ter)
NM_000020.3(ACVRL1):c.1197G>A (p.Trp399Ter)
NM_000020.3(ACVRL1):c.121T>G (p.Cys41Gly)
NM_000020.3(ACVRL1):c.1271C>G (p.Pro424Arg)
NM_000020.3(ACVRL1):c.1277A>G (p.Tyr426Cys)
NM_000020.3(ACVRL1):c.1297C>T (p.Pro433Ser)
NM_000020.3(ACVRL1):c.129dup (p.Pro44fs)
NM_000020.3(ACVRL1):c.131_132insCACA (p.Cys46fs)
NM_000020.3(ACVRL1):c.1331_1332dup (p.Asp445fs) rs1565596508
NM_000020.3(ACVRL1):c.1331dup (p.Asp445fs)
NM_000020.3(ACVRL1):c.1345C>T (p.Pro449Ser)
NM_000020.3(ACVRL1):c.1419C>A (p.Tyr473Ter)
NM_000020.3(ACVRL1):c.1428del (p.Ser477fs) rs1592228303
NM_000020.3(ACVRL1):c.1451G>T (p.Arg484Leu) rs863223408
NM_000020.3(ACVRL1):c.206G>A (p.Cys69Tyr)
NM_000020.3(ACVRL1):c.207C>A (p.Cys69Ter)
NM_000020.3(ACVRL1):c.223G>T (p.Glu75Ter)
NM_000020.3(ACVRL1):c.231C>G (p.Cys77Trp)
NM_000020.3(ACVRL1):c.237del (p.Arg80fs)
NM_000020.3(ACVRL1):c.237dup (p.Arg80fs) rs1592221830
NM_000020.3(ACVRL1):c.329C>A (p.Ser110Ter)
NM_000020.3(ACVRL1):c.336del (p.Gln112fs)
NM_000020.3(ACVRL1):c.362_374del (p.Leu121fs)
NM_000020.3(ACVRL1):c.412_413del (p.Leu138fs)
NM_000020.3(ACVRL1):c.514dup (p.Ser172fs)
NM_000020.3(ACVRL1):c.525+1G>T
NM_000020.3(ACVRL1):c.525+1del rs1060503249
NM_000020.3(ACVRL1):c.621T>A (p.Cys207Ter)
NM_000020.3(ACVRL1):c.623_624del (p.Val208fs) rs1060503240
NM_000020.3(ACVRL1):c.625+1G>T
NM_000020.3(ACVRL1):c.625+1del rs1555152815
NM_000020.3(ACVRL1):c.693CTC[1] (p.Ser233del) rs387906391
NM_000020.3(ACVRL1):c.714del (p.Trp239fs)
NM_000020.3(ACVRL1):c.724G>T (p.Glu242Ter)
NM_000020.3(ACVRL1):c.743_744del (p.Thr248fs) rs1555152955
NM_000020.3(ACVRL1):c.772+1G>C
NM_000020.3(ACVRL1):c.78_81del (p.Ser27fs)
NM_000020.3(ACVRL1):c.847_853delinsTT (p.Gly283fs)
NM_000020.3(ACVRL1):c.858C>A (p.Tyr286Ter)
NM_000020.3(ACVRL1):c.86del (p.Gly29fs)
NM_000020.3(ACVRL1):c.871A>T (p.Arg291Ter)
NM_000020.3(ACVRL1):c.872_873del (p.Arg291fs) rs1592224087
NM_000020.3(ACVRL1):c.874C>T (p.Gln292Ter)
NM_000020.3(ACVRL1):c.929_932del (p.Leu310fs)
NM_000118.3(ENG):c.-127C>T rs1060501408
NM_000118.3(ENG):c.1024C>T (p.Gln342Ter) rs774429348
NM_000118.3(ENG):c.1080_1083del (p.Thr361fs) rs863223540
NM_000118.3(ENG):c.1111dup (p.Val371fs) rs1554810041
NM_000118.3(ENG):c.1134G>A (p.Ala378=) rs1329127701
NM_000118.3(ENG):c.1169G>A (p.Trp390Ter) rs1564453619
NM_000118.3(ENG):c.1195_1196del (p.Arg399fs) rs1131691422
NM_000118.3(ENG):c.1195del (p.Arg399fs) rs1131691444
NM_000118.3(ENG):c.1199del (p.Gly400fs) rs1060501422
NM_000118.3(ENG):c.119del (p.Gly40fs) rs369596004
NM_000118.3(ENG):c.1235G>A (p.Cys412Tyr) rs1554809513
NM_000118.3(ENG):c.1235_1687-78del
NM_000118.3(ENG):c.1247dup (p.Ser417fs) rs1588576923
NM_000118.3(ENG):c.1268del (p.Asn423fs) rs1564453538
NM_000118.3(ENG):c.1286dup (p.Leu430fs) rs1554809455
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.1311G>C (p.Arg437=) rs1554809448
NM_000118.3(ENG):c.1311dupG rs1554809446
NM_000118.3(ENG):c.1312A>T (p.Lys438Ter) rs863223536
NM_000118.3(ENG):c.1326C>A (p.Cys442Ter) rs1554809361
NM_000118.3(ENG):c.1327del (p.Leu443fs) rs1060501413
NM_000118.3(ENG):c.1351C>T (p.Gln451Ter) rs1554809355
NM_000118.3(ENG):c.1394dup (p.Asn465fs) rs1554809348
NM_000118.3(ENG):c.1410del (p.Gln471fs) rs1085307433
NM_000118.3(ENG):c.1415_1424del (p.Gln472fs) rs1060501412
NM_000118.3(ENG):c.1428+1G>A rs863223542
NM_000118.3(ENG):c.1428+2T>A rs863223543
NM_000118.3(ENG):c.1453G>T (p.Glu485Ter) rs997074986
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.1509del (p.Val504fs) rs1564452685
NM_000118.3(ENG):c.1515dup (p.Leu506fs) rs1564452667
NM_000118.3(ENG):c.1541del (p.Gly514fs) rs1554809268
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.1672_1684del (p.Gly558fs) rs1554809229
NM_000118.3(ENG):c.1684C>T (p.Gln562Ter) rs1588574749
NM_000118.3(ENG):c.1686+1G>A rs1554809228
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.1715T>A (p.Leu572Ter) rs863223539
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.219+1G>A rs1554812253
NM_000118.3(ENG):c.219G>A (p.Thr73=) rs755348996
NM_000118.3(ENG):c.224del (p.Pro75fs) rs1554810932
NM_000118.3(ENG):c.229C>T (p.Gln77Ter) rs1588585997
NM_000118.3(ENG):c.229del (p.Gln77fs) rs1554810928
NM_000118.3(ENG):c.244del (p.Leu82fs) rs1554810921
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.2T>G (p.Met1Arg) rs267606783
NM_000118.3(ENG):c.314T>A (p.Val105Asp) rs1588585880
NM_000118.3(ENG):c.360+1G>A rs886039505
NM_000118.3(ENG):c.360C>A (p.Tyr120Ter) rs121918402
NM_000118.3(ENG):c.392del (p.Pro131fs) rs1554810510
NM_000118.3(ENG):c.397del (p.Val133fs) rs1588583640
NM_000118.3(ENG):c.447G>C (p.Trp149Cys) rs878853657
NM_000118.3(ENG):c.488_491del (p.Asn163fs) rs1588583530
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.562C>T (p.Gln188Ter) rs863223537
NM_000118.3(ENG):c.572del (p.Gly191fs) rs1564456374
NM_000118.3(ENG):c.587G>A (p.Trp196Ter) rs1588582870
NM_000118.3(ENG):c.621C>A (p.Cys207Ter) rs1440769928
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.67del (p.Ser23fs) rs878853658
NM_000118.3(ENG):c.68-1G>A rs878853659
NM_000118.3(ENG):c.683C>A (p.Ser228Ter) rs1452543778
NM_000118.3(ENG):c.689+1G>A rs1588582594
NM_000118.3(ENG):c.690-2A>T rs1564455970
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.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.776del (p.Val259fs) rs1588581880
NM_000118.3(ENG):c.782G>A (p.Trp261Ter) rs1060501420
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.817-1G>C rs1564455715
NM_000118.3(ENG):c.831C>A (p.Tyr277Ter) rs121918400
NM_000118.3(ENG):c.880_881del (p.Asp294fs) rs886042916
NM_000118.3(ENG):c.904G>T (p.Glu302Ter) rs1060501419
NM_000118.3(ENG):c.904dup (p.Glu302fs) rs1554810177
NM_000118.3(ENG):c.911_918del (p.Arg304fs) rs1564455604
NM_000118.3(ENG):c.983_984delinsAG (p.Ser328Ter) rs1588581338
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_001077401.2(ACVRL1):c.1030T>C (p.Cys344Arg) rs1592224412
NM_001077401.2(ACVRL1):c.1232G>A (p.Arg411Gln) rs121909284
NM_001077401.2(ACVRL1):c.1451G>A (p.Arg484Gln) rs863223408
NM_001077401.2(ACVRL1):c.711_713delinsAG (p.Ser238fs) rs1555152935
NM_001114753.2(ENG):c.1029_1060delinsATGGTGG (p.Thr344fs) rs1064792934
NM_001114753.2(ENG):c.1415_1417delinsGT (p.Gln472fs) rs1554809331
NM_001114753.2(ENG):c.562dup (p.Gln188fs) rs1588582962
NM_001114753.3(ENG):c.1005_1006insGT (p.Thr336fs)
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.1134G>C (p.Ala378=)
NM_001114753.3(ENG):c.1236T>A (p.Cys412Ter)
NM_001114753.3(ENG):c.1238del (p.Gly413fs)
NM_001114753.3(ENG):c.1273-2A>G rs373842615
NM_001114753.3(ENG):c.1276_1279delinsATAAA (p.Val426fs)
NM_001114753.3(ENG):c.1311G>A (p.Arg437=)
NM_001114753.3(ENG):c.1333dup (p.Met445fs)
NM_001114753.3(ENG):c.1346_1347del (p.Ser449fs) rs1564453019
NM_001114753.3(ENG):c.1426C>T (p.Gln476Ter)
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.1490T>A (p.Leu497Ter)
NM_001114753.3(ENG):c.1531del (p.Ala511fs)
NM_001114753.3(ENG):c.159C>A (p.Cys53Ter)
NM_001114753.3(ENG):c.1626dup (p.Lys543fs)
NM_001114753.3(ENG):c.1675del (p.Ser559fs)
NM_001114753.3(ENG):c.1678C>T (p.Gln560Ter)
NM_001114753.3(ENG):c.1687-2A>G
NM_001114753.3(ENG):c.1687G>T (p.Glu563Ter)
NM_001114753.3(ENG):c.1695del (p.His565fs)
NM_001114753.3(ENG):c.1698del (p.Thr567fs)
NM_001114753.3(ENG):c.277dup (p.Arg93fs)
NM_001114753.3(ENG):c.360+1G>C
NM_001114753.3(ENG):c.360+1G>T
NM_001114753.3(ENG):c.375_378dup (p.Phe127fs)
NM_001114753.3(ENG):c.405dup (p.Thr136fs)
NM_001114753.3(ENG):c.461dup (p.Ile156fs)
NM_001114753.3(ENG):c.468del (p.Thr157fs)
NM_001114753.3(ENG):c.494C>T (p.Pro165Leu)
NM_001114753.3(ENG):c.496dup (p.Gln166fs)
NM_001114753.3(ENG):c.523+1G>A
NM_001114753.3(ENG):c.527del (p.Gln176fs)
NM_001114753.3(ENG):c.571_573delinsTG (p.Gly191fs)
NM_001114753.3(ENG):c.577_588delinsGT (p.Thr193fs)
NM_001114753.3(ENG):c.595_596dup (p.Thr200fs) rs1554810405
NM_001114753.3(ENG):c.600_603dup (p.Ala202fs)
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.640_643del (p.Gly214fs) rs864622666
NM_001114753.3(ENG):c.654_655del (p.Ile220fs)
NM_001114753.3(ENG):c.657_658del (p.Ile220fs)
NM_001114753.3(ENG):c.674del (p.Pro225fs)
NM_001114753.3(ENG):c.689+2T>A
NM_001114753.3(ENG):c.690-1G>C
NM_001114753.3(ENG):c.752_768del (p.Leu251fs)
NM_001114753.3(ENG):c.766_776del (p.Pro256fs)
NM_001114753.3(ENG):c.767_786del (p.Pro256fs)
NM_001114753.3(ENG):c.774C>A (p.Tyr258Ter)
NM_001114753.3(ENG):c.777_778dup (p.Ser260fs)
NM_001114753.3(ENG):c.787_789del (p.Ile263del)
NM_001114753.3(ENG):c.806T>A (p.Met269Lys)
NM_001114753.3(ENG):c.806T>G (p.Met269Arg)
NM_001114753.3(ENG):c.863_867dup (p.Phe290fs)
NM_002890.2(RASA1):c.1513A[3](p.Ile505Lysfs) rs1554048061
NM_002890.3(RASA1):c.1052G>A (p.Trp351Ter)
NM_002890.3(RASA1):c.1164_1165del (p.Tyr389fs)
NM_002890.3(RASA1):c.1192C>T (p.Arg398Ter) rs1210180190
NM_002890.3(RASA1):c.1222C>T (p.Gln408Ter)
NM_002890.3(RASA1):c.1257dup (p.Gly420fs)
NM_002890.3(RASA1):c.1279C>T (p.Arg427Ter) rs975191415
NM_002890.3(RASA1):c.1332+2T>G
NM_002890.3(RASA1):c.1358_1359del (p.Thr453fs) rs1060503439
NM_002890.3(RASA1):c.1579_1582del (p.Val527fs)
NM_002890.3(RASA1):c.1659C>A (p.Tyr553Ter) rs747745016
NM_002890.3(RASA1):c.172_173del (p.Ala58fs)
NM_002890.3(RASA1):c.1795delinsGTAAA (p.His599fs)
NM_002890.3(RASA1):c.1926dup (p.Val643fs)
NM_002890.3(RASA1):c.2125C>T (p.Arg709Ter) rs1554049422
NM_002890.3(RASA1):c.2182G>T (p.Glu728Ter)
NM_002890.3(RASA1):c.2245C>T (p.Arg749Ter) rs1204340475
NM_002890.3(RASA1):c.2333dup (p.Ser779fs) rs1347210621
NM_002890.3(RASA1):c.2402dup (p.Tyr801Ter)
NM_002890.3(RASA1):c.2451dup (p.Ile818fs)
NM_002890.3(RASA1):c.2529dup (p.Asn844Ter) rs878854569
NM_002890.3(RASA1):c.2557dup (p.Ser853fs) rs1554049825
NM_002890.3(RASA1):c.2603+1G>A rs983011713
NM_002890.3(RASA1):c.261_262del (p.Gly89fs) rs1384480619
NM_002890.3(RASA1):c.2698_2701del (p.Val900fs) rs886041232
NM_002890.3(RASA1):c.2707C>T (p.Arg903Ter) rs1554050230
NM_002890.3(RASA1):c.2810_2811del (p.Val937fs)
NM_002890.3(RASA1):c.2866_2867del (p.Val956fs) rs1561331089
NM_002890.3(RASA1):c.2873del (p.Pro958fs) rs1554050584
NM_002890.3(RASA1):c.2909_2913dup (p.Asp972delinsPheTer) rs878854570
NM_002890.3(RASA1):c.2920del (p.Asn976fs)
NM_002890.3(RASA1):c.3028C>T (p.Arg1010Ter)
NM_002890.3(RASA1):c.3043G>T (p.Glu1015Ter) rs1561333645
NM_002890.3(RASA1):c.3050del (p.Gly1017fs)
NM_002890.3(RASA1):c.365C>A (p.Ser122Ter)
NM_002890.3(RASA1):c.442dup (p.Ala148fs)
NM_002890.3(RASA1):c.475_476del (p.Leu159fs) rs797044451
NM_002890.3(RASA1):c.492C>A (p.Tyr164Ter)
NM_002890.3(RASA1):c.578_581dup (p.Leu195fs)
NM_002890.3(RASA1):c.613_617del (p.Leu205fs) rs1060503441
NM_002890.3(RASA1):c.656C>G (p.Ser219Ter) rs1554044823

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