ClinVar Miner

List of variants in gene ACVRL1 studied for capillary malformation

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 472
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HGVS dbSNP
NC_000012.11:g.(?_52297387_52306941del
NC_000012.11:g.(?_52306239)_(52314697_?)del
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
NC_000012.12:g.51907469G>C rs1002184603
NM_000020.2(ACVRL1):c.*1021T>C rs697631
NM_000020.2(ACVRL1):c.*1041G>T rs199949661
NM_000020.2(ACVRL1):c.*1042C>G rs56683171
NM_000020.2(ACVRL1):c.*1042C>T rs56683171
NM_000020.2(ACVRL1):c.*120G>A rs539571133
NM_000020.2(ACVRL1):c.*1246T>C rs706819
NM_000020.2(ACVRL1):c.*131C>T rs886049610
NM_000020.2(ACVRL1):c.*1351G>A rs886049616
NM_000020.2(ACVRL1):c.*1493G>A rs565400159
NM_000020.2(ACVRL1):c.*1560A>C rs80260084
NM_000020.2(ACVRL1):c.*1630C>T rs886049617
NM_000020.2(ACVRL1):c.*1662A>T rs886049618
NM_000020.2(ACVRL1):c.*1689G>A rs139351455
NM_000020.2(ACVRL1):c.*1776C>T rs78150616
NM_000020.2(ACVRL1):c.*1777G>A rs546585572
NM_000020.2(ACVRL1):c.*1839C>T rs755262319
NM_000020.2(ACVRL1):c.*1926T>C rs2293094
NM_000020.2(ACVRL1):c.*200A>G rs886049611
NM_000020.2(ACVRL1):c.*205G>A rs886049612
NM_000020.2(ACVRL1):c.*2098A>C rs886049619
NM_000020.2(ACVRL1):c.*2277A>T rs529631289
NM_000020.2(ACVRL1):c.*2281G>T rs114323941
NM_000020.2(ACVRL1):c.*2313G>A rs61914025
NM_000020.2(ACVRL1):c.*2347A>C rs573540605
NM_000020.2(ACVRL1):c.*2380C>G rs2293093
NM_000020.2(ACVRL1):c.*2398G>A rs2293092
NM_000020.2(ACVRL1):c.*2422A>G rs706820
NM_000020.2(ACVRL1):c.*242A>G rs147728309
NM_000020.2(ACVRL1):c.*251A>G rs886049613
NM_000020.2(ACVRL1):c.*423C>T rs114741844
NM_000020.2(ACVRL1):c.*45del rs761647766
NM_000020.2(ACVRL1):c.*499T>G rs572632343
NM_000020.2(ACVRL1):c.*560T>C rs706818
NM_000020.2(ACVRL1):c.*58G>A rs182368657
NM_000020.2(ACVRL1):c.*856dup rs544534093
NM_000020.2(ACVRL1):c.*862G>A rs116256992
NM_000020.2(ACVRL1):c.*869C>T rs113690319
NM_000020.2(ACVRL1):c.*879G>T rs886049615
NM_000020.2(ACVRL1):c.*913C>T rs75074181
NM_000020.2(ACVRL1):c.*935G>C rs116740271
NM_000020.2(ACVRL1):c.*949C>T rs810052
NM_000020.2(ACVRL1):c.*992A>G rs567585207
NM_000020.2(ACVRL1):c.-129G>A rs886049607
NM_000020.2(ACVRL1):c.-194A>C rs886049606
NM_000020.2(ACVRL1):c.-202C>G rs573855752
NM_000020.2(ACVRL1):c.-46C>G rs190953189
NM_000020.2(ACVRL1):c.-5-33C>T rs2277382
NM_000020.2(ACVRL1):c.-52G>A rs573048639
NM_000020.2(ACVRL1):c.-58G>A rs886049608
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.100dup (p.Cys34fs) rs1555152440
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.1031G>T (p.Cys344Phe) rs28936688
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.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.1049-1G>A rs1060503242
NM_000020.2(ACVRL1):c.1055C>A (p.Ala352Asp) rs1085307415
NM_000020.2(ACVRL1):c.105del (p.Cys36fs) rs1555152447
NM_000020.2(ACVRL1):c.1093G>A (p.Gly365Ser) rs749510030
NM_000020.2(ACVRL1):c.1113_1114insG rs387906394
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.1121G>C (p.Arg374Pro) rs1060503248
NM_000020.2(ACVRL1):c.1122G>T (p.Arg374=) rs187902433
NM_000020.2(ACVRL1):c.1124A>G (p.Tyr375Cys) rs1085307416
NM_000020.2(ACVRL1):c.1126A>G (p.Met376Val) rs1555153277
NM_000020.2(ACVRL1):c.1127T>G (p.Met376Arg) rs28936399
NM_000020.2(ACVRL1):c.1129G>A (p.Ala377Thr) rs1565594969
NM_000020.2(ACVRL1):c.1134C>T (p.Pro378=) rs147021958
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.1161G>A (p.Thr387=) rs150140878
NM_000020.2(ACVRL1):c.1188_1189delinsAA (p.Asp397Asn) rs1592225036
NM_000020.2(ACVRL1):c.1190A>T (p.Asp397Val) rs1592225044
NM_000020.2(ACVRL1):c.1193T>A (p.Ile398Asn) rs121909286
NM_000020.2(ACVRL1):c.1195T>C (p.Trp399Arg) rs1085307418
NM_000020.2(ACVRL1):c.1196G>C (p.Trp399Ser) rs121909289
NM_000020.2(ACVRL1):c.1196G>T (p.Trp399Leu) rs121909289
NM_000020.2(ACVRL1):c.1204G>A (p.Gly402Ser) rs1555153354
NM_000020.2(ACVRL1):c.1217G>A (p.Trp406Ter) rs1060503235
NM_000020.2(ACVRL1):c.1220A>G (p.Glu407Gly) rs1565595121
NM_000020.2(ACVRL1):c.1221G>T (p.Glu407Asp) rs1565595129
NM_000020.2(ACVRL1):c.1228C>T (p.Arg410Cys) rs781770577
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+19C>T rs185343653
NM_000020.2(ACVRL1):c.1246+1G>A rs1565595176
NM_000020.2(ACVRL1):c.1246+2T>C rs1555153382
NM_000020.2(ACVRL1):c.1249A>T (p.Ile417Phe) rs141653630
NM_000020.2(ACVRL1):c.1250_1269del (p.Ile417fs) rs1555153796
NM_000020.2(ACVRL1):c.1270C>A (p.Pro424Thr) rs1085307419
NM_000020.2(ACVRL1):c.1280A>T (p.Asp427Val) rs1085307420
NM_000020.2(ACVRL1):c.1310A>G (p.Asp437Gly) rs1060503238
NM_000020.2(ACVRL1):c.1313T>C (p.Met438Thr) rs1555153828
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.1324G>A (p.Val442Met) rs1085307421
NM_000020.2(ACVRL1):c.1336C>T (p.Gln446Ter) rs1064794217
NM_000020.2(ACVRL1):c.1348A>G (p.Thr450Ala) rs146206499
NM_000020.2(ACVRL1):c.1377+1G>A rs863223406
NM_000020.2(ACVRL1):c.1377+2T>G rs1555153854
NM_000020.2(ACVRL1):c.1377+45T>C rs706815
NM_000020.2(ACVRL1):c.1377+65A>G rs706816
NM_000020.2(ACVRL1):c.1378-1G>A rs1060503237
NM_000020.2(ACVRL1):c.1378-216C>G rs111710113
NM_000020.2(ACVRL1):c.1378-248T>G rs2656315
NM_000020.2(ACVRL1):c.1378-30T>C rs142910573
NM_000020.2(ACVRL1):c.137G>C (p.Cys46Ser) rs1555152454
NM_000020.2(ACVRL1):c.1385C>G (p.Ser462Ter) rs1085307422
NM_000020.2(ACVRL1):c.1388del (p.Gly463fs) rs1085307423
NM_000020.2(ACVRL1):c.1390del (p.Gly463_Leu464insTer) rs1085307424
NM_000020.2(ACVRL1):c.1412G>A (p.Cys471Tyr) rs1555154137
NM_000020.2(ACVRL1):c.1413C>A (p.Cys471Ter) rs1301762186
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.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.143G>A (p.Gly48Glu) rs267606632
NM_000020.2(ACVRL1):c.1448T>G (p.Leu483Arg) rs1565597471
NM_000020.2(ACVRL1):c.145del (p.Ala49fs) rs863223415
NM_000020.2(ACVRL1):c.145dup (p.Ala49fs) rs863223415
NM_000020.2(ACVRL1):c.1460A>C (p.Lys487Thr) rs1085307428
NM_000020.2(ACVRL1):c.1468C>T (p.Gln490Ter) rs1085307429
NM_000020.2(ACVRL1):c.148T>C (p.Trp50Arg) rs1555152468
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.200G>C (p.Arg67Pro) rs863223414
NM_000020.2(ACVRL1):c.206G>T (p.Cys69Phe) rs1318118188
NM_000020.2(ACVRL1):c.207C>T (p.Cys69=) rs56080682
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.267C>G (p.Cys89Trp) rs1592221930
NM_000020.2(ACVRL1):c.269G>A (p.Cys90Tyr) rs863223410
NM_000020.2(ACVRL1):c.269G>T (p.Cys90Phe) rs863223410
NM_000020.2(ACVRL1):c.270C>A (p.Cys90Ter) rs556168617
NM_000020.2(ACVRL1):c.293A>G (p.Asn98Ser) rs1085307406
NM_000020.2(ACVRL1):c.313+1G>T rs1555152548
NM_000020.2(ACVRL1):c.313+40G>C rs376033978
NM_000020.2(ACVRL1):c.313+7C>T rs374171506
NM_000020.2(ACVRL1):c.314-35A>G rs2071219
NM_000020.2(ACVRL1):c.330G>A (p.Ser110=) rs77341011
NM_000020.2(ACVRL1):c.368T>C (p.Leu123Pro) rs762756031
NM_000020.2(ACVRL1):c.37del (p.Leu13fs) rs1085307404
NM_000020.2(ACVRL1):c.406_409del (p.Gly136fs) rs863223416
NM_000020.2(ACVRL1):c.41dup (p.Met15fs) rs1060503236
NM_000020.2(ACVRL1):c.429C>T (p.Val143=) rs762047618
NM_000020.2(ACVRL1):c.430C>T (p.Arg144Ter) rs758683062
NM_000020.2(ACVRL1):c.465C>T (p.Ser155=) rs143735377
NM_000020.2(ACVRL1):c.470T>C (p.Leu157Pro) rs1371249289
NM_000020.2(ACVRL1):c.484C>T (p.Leu162Phe) rs76038779
NM_000020.2(ACVRL1):c.518T>C (p.Met173Thr) rs754813319
NM_000020.2(ACVRL1):c.525+1G>A rs1555152710
NM_000020.2(ACVRL1):c.526-1G>A rs1565593274
NM_000020.2(ACVRL1):c.526-7C>A rs772776468
NM_000020.2(ACVRL1):c.536A>C (p.Asp179Ala) rs753792569
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.557G>T (p.Ser186Ile) rs1288729113
NM_000020.2(ACVRL1):c.573del (p.Phe192fs) rs1555152786
NM_000020.2(ACVRL1):c.578T>C (p.Leu193Pro) rs1555152790
NM_000020.2(ACVRL1):c.58C>T (p.Gln20Ter) rs1555152345
NM_000020.2(ACVRL1):c.593T>A (p.Val198Glu) rs886043123
NM_000020.2(ACVRL1):c.593T>C (p.Val198Ala) rs886043123
NM_000020.2(ACVRL1):c.601C>T (p.Gln201Ter) rs1318446539
NM_000020.2(ACVRL1):c.602A>G (p.Gln201Arg) rs1085307407
NM_000020.2(ACVRL1):c.625+164T>C rs77709482
NM_000020.2(ACVRL1):c.625+2T>C rs1592223028
NM_000020.2(ACVRL1):c.626-53C>T rs111245531
NM_000020.2(ACVRL1):c.632G>A (p.Gly211Asp) rs28936687
NM_000020.2(ACVRL1):c.641del (p.Gly214fs) rs1555152909
NM_000020.2(ACVRL1):c.642C>T (p.Gly214=) rs139008591
NM_000020.2(ACVRL1):c.651G>A (p.Trp217Ter) rs1592223399
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.666C>T (p.His222=) rs377194545
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.698C>T (p.Ser233Leu) rs762773076
NM_000020.2(ACVRL1):c.706G>A (p.Glu236Lys) rs1592223490
NM_000020.2(ACVRL1):c.713C>T (p.Ser238Phe) rs761033311
NM_000020.2(ACVRL1):c.760_762del (p.Asp254del) rs387906393
NM_000020.2(ACVRL1):c.772G>A (p.Gly258Ser) rs1555152966
NM_000020.2(ACVRL1):c.773-7_773-6delinsTC rs1555153071
NM_000020.2(ACVRL1):c.780C>T (p.Ile260=) rs911791104
NM_000020.2(ACVRL1):c.788A>G (p.Asp263Gly) rs1085307408
NM_000020.2(ACVRL1):c.808_820dup (p.Trp274Ter) rs1555153077
NM_000020.2(ACVRL1):c.817C>T (p.Leu273=) rs55802125
NM_000020.2(ACVRL1):c.818T>C (p.Leu273Pro) rs1085307409
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.851C>T (p.Ser284Phe) rs768643771
NM_000020.2(ACVRL1):c.853C>T (p.Leu285Phe) rs1085307410
NM_000020.2(ACVRL1):c.889del (p.His297fs) rs1060503245
NM_000020.2(ACVRL1):c.88C>T (p.Pro30Ser) rs149664056
NM_000020.2(ACVRL1):c.905T>C (p.Leu302Pro) rs1565594217
NM_000020.2(ACVRL1):c.914C>T (p.Ser305Phe) rs1555153126
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.924C>A (p.Cys308Ter) rs1555153131
NM_000020.2(ACVRL1):c.925G>A (p.Gly309Ser) rs1555153133
NM_000020.2(ACVRL1):c.925G>C (p.Gly309Arg) rs1555153133
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.969A>C (p.Lys323Asn) rs771877309
NM_000020.2(ACVRL1):c.984C>A (p.His328Gln) rs1565594410
NM_000020.2(ACVRL1):c.986G>A (p.Arg329His) rs863223412
NM_000020.2(ACVRL1):c.992T>C (p.Phe331Ser) rs1166311240
NM_000020.2(ACVRL1):c.993C>T (p.Phe331=) rs56379428
NM_000020.2(ACVRL1):c.998G>T (p.Ser333Ile) rs863223413
NM_000020.3(ACVRL1):c.*1107G>T
NM_000020.3(ACVRL1):c.*132G>A
NM_000020.3(ACVRL1):c.*1369C>T
NM_000020.3(ACVRL1):c.*1560A>G
NM_000020.3(ACVRL1):c.*1599A>G
NM_000020.3(ACVRL1):c.*1676T>C
NM_000020.3(ACVRL1):c.*2034G>T
NM_000020.3(ACVRL1):c.*2113C>T
NM_000020.3(ACVRL1):c.*2252G>A
NM_000020.3(ACVRL1):c.*2268G>C
NM_000020.3(ACVRL1):c.*2440G>T
NM_000020.3(ACVRL1):c.*46T>G
NM_000020.3(ACVRL1):c.*478G>A
NM_000020.3(ACVRL1):c.*590G>T
NM_000020.3(ACVRL1):c.*592G>A
NM_000020.3(ACVRL1):c.*814G>A
NM_000020.3(ACVRL1):c.*823C>T
NM_000020.3(ACVRL1):c.*871C>T
NM_000020.3(ACVRL1):c.*980C>T
NM_000020.3(ACVRL1):c.-168G>C
NM_000020.3(ACVRL1):c.-5-227C>G rs2277381
NM_000020.3(ACVRL1):c.-5-59C>T rs563686436
NM_000020.3(ACVRL1):c.1010T>C (p.Leu337Pro) rs1592224349
NM_000020.3(ACVRL1):c.1010del (p.Leu337fs)
NM_000020.3(ACVRL1):c.1013T>G (p.Val338Gly)
NM_000020.3(ACVRL1):c.1015A>T (p.Lys339Ter)
NM_000020.3(ACVRL1):c.102C>A (p.Cys34Ter)
NM_000020.3(ACVRL1):c.1030_1048+18del
NM_000020.3(ACVRL1):c.1031G>A (p.Cys344Tyr) rs28936688
NM_000020.3(ACVRL1):c.1032T>C (p.Cys344=)
NM_000020.3(ACVRL1):c.1037_1039del (p.Ile346_Ala347delinsThr)
NM_000020.3(ACVRL1):c.1041C>G (p.Ala347=) rs750685021
NM_000020.3(ACVRL1):c.1041C>T (p.Ala347=)
NM_000020.3(ACVRL1):c.1041del (p.Asp348fs)
NM_000020.3(ACVRL1):c.1042G>T (p.Asp348Tyr)
NM_000020.3(ACVRL1):c.1043_1048+1dup
NM_000020.3(ACVRL1):c.1048+3_1048+4delinsTT
NM_000020.3(ACVRL1):c.1048+55_1048+58del
NM_000020.3(ACVRL1):c.1055del (p.Ala352fs)
NM_000020.3(ACVRL1):c.1064A>C (p.His355Pro)
NM_000020.3(ACVRL1):c.1069C>T (p.Gln357Ter)
NM_000020.3(ACVRL1):c.106T>C (p.Cys36Arg)
NM_000020.3(ACVRL1):c.1084C>T (p.Leu362=)
NM_000020.3(ACVRL1):c.1098C>T (p.Asn366=) rs779118678
NM_000020.3(ACVRL1):c.1104G>A (p.Pro368=) rs147885255
NM_000020.3(ACVRL1):c.1112G>C (p.Gly371Ala)
NM_000020.3(ACVRL1):c.111G>A (p.Glu37=)
NM_000020.3(ACVRL1):c.1120C>G (p.Arg374Gly)
NM_000020.3(ACVRL1):c.1131A>G (p.Ala377=) rs61734313
NM_000020.3(ACVRL1):c.1132C>T (p.Pro378Ser) rs959973779
NM_000020.3(ACVRL1):c.1133C>G (p.Pro378Arg)
NM_000020.3(ACVRL1):c.1153A>C (p.Ile385Leu)
NM_000020.3(ACVRL1):c.1153_1157dup (p.Thr387fs)
NM_000020.3(ACVRL1):c.115_116del (p.Pro39fs)
NM_000020.3(ACVRL1):c.1163A>G (p.Asp388Gly)
NM_000020.3(ACVRL1):c.1165_1179del (p.Cys389_Tyr393del)
NM_000020.3(ACVRL1):c.1171G>T (p.Glu391Ter)
NM_000020.3(ACVRL1):c.1173G>A (p.Glu391=)
NM_000020.3(ACVRL1):c.1189G>A (p.Asp397Asn)
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.122G>A (p.Cys41Tyr)
NM_000020.3(ACVRL1):c.1231_1246+4dup
NM_000020.3(ACVRL1):c.1239C>T (p.Ile413=) rs755557465
NM_000020.3(ACVRL1):c.1246+5G>A
NM_000020.3(ACVRL1):c.1246+9C>T rs115378744
NM_000020.3(ACVRL1):c.1246G>A (p.Gly416Ser) rs1592225112
NM_000020.3(ACVRL1):c.1247G>C (p.Gly416Ala)
NM_000020.3(ACVRL1):c.1258G>A (p.Asp420Asn)
NM_000020.3(ACVRL1):c.1271C>G (p.Pro424Arg)
NM_000020.3(ACVRL1):c.1275C>T (p.Phe425=) rs191763644
NM_000020.3(ACVRL1):c.1277A>G (p.Tyr426Cys)
NM_000020.3(ACVRL1):c.1297C>T (p.Pro433Ser)
NM_000020.3(ACVRL1):c.1298C>A (p.Pro433His)
NM_000020.3(ACVRL1):c.129dup (p.Pro44fs)
NM_000020.3(ACVRL1):c.131_132insCACA (p.Cys46fs)
NM_000020.3(ACVRL1):c.1323G>A (p.Val441=) rs1592226875
NM_000020.3(ACVRL1):c.1325T>C (p.Val442Ala)
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.1376C>T (p.Pro459Leu)
NM_000020.3(ACVRL1):c.1377+247_1377+248insTCTG
NM_000020.3(ACVRL1):c.1377+249_1377+250insTGTGTG rs1592227186
NM_000020.3(ACVRL1):c.1377+326G>T rs11609817
NM_000020.3(ACVRL1):c.1377+4A>T
NM_000020.3(ACVRL1):c.1377+636C>T rs706817
NM_000020.3(ACVRL1):c.1377G>A (p.Pro459=)
NM_000020.3(ACVRL1):c.1378-115T>A rs568821415
NM_000020.3(ACVRL1):c.1378-155T>G rs2277383
NM_000020.3(ACVRL1):c.1378-216C>T rs111710113
NM_000020.3(ACVRL1):c.1378-217A>G rs772003
NM_000020.3(ACVRL1):c.1378-248del rs202089535
NM_000020.3(ACVRL1):c.1378-339T>G
NM_000020.3(ACVRL1):c.1378-405A>G rs813471
NM_000020.3(ACVRL1):c.1378-417C>T
NM_000020.3(ACVRL1):c.1378-490_1378-489insTGA
NM_000020.3(ACVRL1):c.1378-556C>T
NM_000020.3(ACVRL1):c.1378-615_1378-614insGTTGATGAGCTTCCTGGGATGA
NM_000020.3(ACVRL1):c.1378-699C>T
NM_000020.3(ACVRL1):c.1378-711C>T rs116778422
NM_000020.3(ACVRL1):c.139dup (p.Arg47fs)
NM_000020.3(ACVRL1):c.1405C>A (p.Arg469=)
NM_000020.3(ACVRL1):c.1405C>T (p.Arg469Trp)
NM_000020.3(ACVRL1):c.1411T>G (p.Cys471Gly)
NM_000020.3(ACVRL1):c.1419C>A (p.Tyr473Ter)
NM_000020.3(ACVRL1):c.1427C>G (p.Pro476Arg)
NM_000020.3(ACVRL1):c.1427C>T (p.Pro476Leu)
NM_000020.3(ACVRL1):c.1428del (p.Ser477fs) rs1592228303
NM_000020.3(ACVRL1):c.143_147delinsAGCCT (p.Gly48_Ala49delinsGluPro) rs387906392
NM_000020.3(ACVRL1):c.1443C>T (p.Thr481=)
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val) rs139142865
NM_000020.3(ACVRL1):c.1448del (p.Leu483fs)
NM_000020.3(ACVRL1):c.1451G>T (p.Arg484Leu) rs863223408
NM_000020.3(ACVRL1):c.1457AGA[1] (p.Lys487del)
NM_000020.3(ACVRL1):c.1459A>C (p.Lys487Gln)
NM_000020.3(ACVRL1):c.1459A>G (p.Lys487Glu)
NM_000020.3(ACVRL1):c.1465C>A (p.Leu489Ile)
NM_000020.3(ACVRL1):c.1509A>G (p.Gln503=)
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.24A>G (p.Lys8=)
NM_000020.3(ACVRL1):c.251T>G (p.Phe84Cys)
NM_000020.3(ACVRL1):c.259del (p.His87fs)
NM_000020.3(ACVRL1):c.263A>G (p.Tyr88Cys)
NM_000020.3(ACVRL1):c.270C>T (p.Cys90=)
NM_000020.3(ACVRL1):c.294C>T (p.Asn98=) rs141429164
NM_000020.3(ACVRL1):c.295_298dup (p.Ser100fs)
NM_000020.3(ACVRL1):c.303G>C (p.Leu101=) rs376417482
NM_000020.3(ACVRL1):c.313+11C>T rs2071218
NM_000020.3(ACVRL1):c.314-49G>C
NM_000020.3(ACVRL1):c.314-65G>C rs113559681
NM_000020.3(ACVRL1):c.329C>A (p.Ser110Ter)
NM_000020.3(ACVRL1):c.336del (p.Gln112fs)
NM_000020.3(ACVRL1):c.338C>T (p.Pro113Leu)
NM_000020.3(ACVRL1):c.352C>T (p.Gln118Ter)
NM_000020.3(ACVRL1):c.362_374del (p.Leu121fs)
NM_000020.3(ACVRL1):c.369G>A (p.Leu123=)
NM_000020.3(ACVRL1):c.375dup (p.Val126fs)
NM_000020.3(ACVRL1):c.393C>T (p.Ala131=)
NM_000020.3(ACVRL1):c.412_413del (p.Leu138fs)
NM_000020.3(ACVRL1):c.417C>A (p.Gly139=)
NM_000020.3(ACVRL1):c.431G>A (p.Arg144Gln)
NM_000020.3(ACVRL1):c.462C>T (p.His154=)
NM_000020.3(ACVRL1):c.475G>T (p.Glu159Ter)
NM_000020.3(ACVRL1):c.514dup (p.Ser172fs)
NM_000020.3(ACVRL1):c.525+10T>C
NM_000020.3(ACVRL1):c.525+1G>T
NM_000020.3(ACVRL1):c.525+1del rs1060503249
NM_000020.3(ACVRL1):c.526-10G>A
NM_000020.3(ACVRL1):c.526-11C>T
NM_000020.3(ACVRL1):c.543C>T (p.Asp181=) rs140970131
NM_000020.3(ACVRL1):c.573C>G (p.Pro191=) rs1404977364
NM_000020.3(ACVRL1):c.579G>T (p.Leu193=)
NM_000020.3(ACVRL1):c.598C>G (p.Arg200Gly)
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.62-69G>T rs114852790
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+110_625+121del rs1592223149
NM_000020.3(ACVRL1):c.625+110_625+130del rs67833112
NM_000020.3(ACVRL1):c.625+1G>T
NM_000020.3(ACVRL1):c.625+1del rs1555152815
NM_000020.3(ACVRL1):c.625G>A (p.Gly209Arg)
NM_000020.3(ACVRL1):c.626-2A>G
NM_000020.3(ACVRL1):c.626-59del rs864622702
NM_000020.3(ACVRL1):c.626-60_626-59delinsT
NM_000020.3(ACVRL1):c.626-9G>A
NM_000020.3(ACVRL1):c.631G>T (p.Gly211Cys)
NM_000020.3(ACVRL1):c.652C>T (p.Arg218Trp) rs199874575
NM_000020.3(ACVRL1):c.673_674del (p.Ser225fs)
NM_000020.3(ACVRL1):c.681C>T (p.Ala227=)
NM_000020.3(ACVRL1):c.686A>T (p.Lys229Met)
NM_000020.3(ACVRL1):c.687G>C (p.Lys229Asn)
NM_000020.3(ACVRL1):c.693CTC[1] (p.Ser233del) rs387906391
NM_000020.3(ACVRL1):c.699G>A (p.Ser233=)
NM_000020.3(ACVRL1):c.69T>C (p.Pro23=) rs762796409
NM_000020.3(ACVRL1):c.714del (p.Trp239fs)
NM_000020.3(ACVRL1):c.722G>A (p.Arg241Gln)
NM_000020.3(ACVRL1):c.724G>T (p.Glu242Ter)
NM_000020.3(ACVRL1):c.72_79del (p.Lys25fs) rs1592221459
NM_000020.3(ACVRL1):c.737A>G (p.Tyr246Cys)
NM_000020.3(ACVRL1):c.743_744del (p.Thr248fs) rs1555152955
NM_000020.3(ACVRL1):c.747G>A (p.Val249=) rs1058563
NM_000020.3(ACVRL1):c.759C>T (p.His253=) rs374020751
NM_000020.3(ACVRL1):c.772+1G>C
NM_000020.3(ACVRL1):c.772+24C>T
NM_000020.3(ACVRL1):c.773-3C>G rs1592223964
NM_000020.3(ACVRL1):c.77C>T (p.Pro26Leu) rs199542304
NM_000020.3(ACVRL1):c.786A>G (p.Ser262=) rs200320649
NM_000020.3(ACVRL1):c.78G>A (p.Pro26=) rs774167132
NM_000020.3(ACVRL1):c.78_81del (p.Ser27fs)
NM_000020.3(ACVRL1):c.798C>A (p.Ser266=)
NM_000020.3(ACVRL1):c.807G>A (p.Ser269=)
NM_000020.3(ACVRL1):c.830C>A (p.Thr277Lys)
NM_000020.3(ACVRL1):c.830C>G (p.Thr277Arg)
NM_000020.3(ACVRL1):c.840C>T (p.His280=) rs146188863
NM_000020.3(ACVRL1):c.847_853delinsTT (p.Gly283fs)
NM_000020.3(ACVRL1):c.848G>T (p.Gly283Val)
NM_000020.3(ACVRL1):c.858C>A (p.Tyr286Ter)
NM_000020.3(ACVRL1):c.858C>T (p.Tyr286=) rs542810348
NM_000020.3(ACVRL1):c.863T>C (p.Phe288Ser)
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.888C>G (p.Pro296=) rs776879586
NM_000020.3(ACVRL1):c.890A>G (p.His297Arg) rs139380315
NM_000020.3(ACVRL1):c.916G>C (p.Ala306Pro)
NM_000020.3(ACVRL1):c.916_917insTCA (p.Ala306delinsValThr)
NM_000020.3(ACVRL1):c.917C>T (p.Ala306Val) rs150038846
NM_000020.3(ACVRL1):c.918G>C (p.Ala306=) rs1359095143
NM_000020.3(ACVRL1):c.927_928delinsAT (p.Gly309_Leu310=) rs1592224196
NM_000020.3(ACVRL1):c.929_932del (p.Leu310fs)
NM_000020.3(ACVRL1):c.940C>A (p.His314Asn)
NM_000020.3(ACVRL1):c.948G>C (p.Glu316Asp)
NM_000020.3(ACVRL1):c.979G>C (p.Ala327Pro)
NM_000020.3(ACVRL1):c.982C>T (p.His328Tyr)
NM_000020.3(ACVRL1):c.990C>T (p.Asp330=)
NM_000020.3(ACVRL1):c.999C>G (p.Ser333Arg)
NM_000020.3(ACVRL1):c.9G>A (p.Leu3=) rs779236098
NM_001077401.2(ACVRL1):c.1030T>C (p.Cys344Arg) rs1592224412
NM_001077401.2(ACVRL1):c.1177_1179delinsCAA (p.Tyr393Gln) rs1565595070
NM_001077401.2(ACVRL1):c.1232G>A (p.Arg411Gln) rs121909284
NM_001077401.2(ACVRL1):c.1450C>T (p.Arg484Trp) rs121909288
NM_001077401.2(ACVRL1):c.1450delinsTG (p.Arg484fs) rs1085307427
NM_001077401.2(ACVRL1):c.1451G>A (p.Arg484Gln) rs863223408
NM_001077401.2(ACVRL1):c.145G>C (p.Ala49Pro) rs267606633
NM_001077401.2(ACVRL1):c.653_654inv (p.Arg218Pro)
NM_001077401.2(ACVRL1):c.711_713delinsAG (p.Ser238fs) rs1555152935

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