ClinVar Miner

List of variants studied for capillary malformation

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1638
Download table as spreadsheet
HGVS dbSNP
ENG, 2-BP DEL, NT1153
ENG, 39-BP DEL, NT882
NC_000005.10:g.(?_87268432)_(87353255_?)del
NC_000005.10:g.(?_87268442)_(87353245_?)del
NC_000005.10:g.(?_87390790)_(87390893_?)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.(?_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.(?_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)_(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.(?_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
NC_000010.10:g.(?_48413558)_(48416713_?)del
NC_000010.10:g.(?_48413568)_(48416703_?)del
NC_000010.10:g.(?_48413568)_(48416703_?)dup
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
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_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.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.1160T>C (p.Leu387Pro) rs1564453623
NM_000118.3(ENG):c.1166_1168del (p.Phe389del) rs1588577016
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.1217G>A (p.Arg406His) rs149065210
NM_000118.3(ENG):c.121G>A (p.Glu41Lys) rs199675436
NM_000118.3(ENG):c.1220G>A (p.Ser407Asn) rs1554809516
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.1235_1687-78del
NM_000118.3(ENG):c.1238G>T (p.Gly413Val) rs121918401
NM_000118.3(ENG):c.1243C>T (p.Gln415Ter) rs1343053876
NM_000118.3(ENG):c.1247dup (p.Ser417fs) rs1588576923
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.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.1286dup (p.Leu430fs) rs1554809455
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.1311+6A>G rs1060501416
NM_000118.3(ENG):c.1311G>C (p.Arg437=) rs1554809448
NM_000118.3(ENG):c.1311G>T (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.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.1334del (p.Met445fs) rs1085307432
NM_000118.3(ENG):c.1335G>A (p.Met445Ile) rs777564305
NM_000118.3(ENG):c.1351C>T (p.Gln451Ter) rs1554809355
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.1394dup (p.Asn465fs) rs1554809348
NM_000118.3(ENG):c.1406C>T (p.Pro469Leu) rs367753784
NM_000118.3(ENG):c.1407G>A (p.Pro469=) rs41302657
NM_000118.3(ENG):c.1408G>C (p.Gly470Arg) rs756263325
NM_000118.3(ENG):c.1410del (p.Gln471fs) rs1085307433
NM_000118.3(ENG):c.1415_1424del (p.Gln472fs) rs1060501412
NM_000118.3(ENG):c.1419C>T (p.Ser473=) rs561818608
NM_000118.3(ENG):c.1428+127G>A rs761685402
NM_000118.3(ENG):c.1428+1G>A rs863223542
NM_000118.3(ENG):c.1428+2T>A rs863223543
NM_000118.3(ENG):c.1428+5C>A rs1564452925
NM_000118.3(ENG):c.1429-2A>G rs1564452759
NM_000118.3(ENG):c.1429-9C>T rs370836025
NM_000118.3(ENG):c.1429-9_1429-6dup rs762494923
NM_000118.3(ENG):c.1434A>T (p.Arg478Ser) rs778561832
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.1441C>T (p.Pro481Ser) rs1554809289
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.1479C>A (p.Cys493Ter) rs1197761705
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.1515dup (p.Leu506fs) rs1564452667
NM_000118.3(ENG):c.1533G>A (p.Ala511=) rs140760635
NM_000118.3(ENG):c.1541del (p.Gly514fs) rs1554809268
NM_000118.3(ENG):c.155G>A (p.Gly52Asp) rs1564462765
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.1592G>A (p.Ser531Asn) rs780884220
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.1671C>T (p.Thr557=) rs369135742
NM_000118.3(ENG):c.1672G>A (p.Gly558Arg) rs373230507
NM_000118.3(ENG):c.1672_1684del (p.Gly558fs) rs1554809229
NM_000118.3(ENG):c.1682A>C (p.Asp561Ala) rs375965489
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.1687-117G>A rs1330684
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.1699A>G (p.Thr567Ala) rs1554809101
NM_000118.3(ENG):c.1702G>A (p.Val568Ile) rs781201877
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.1741+10C>T rs1554809082
NM_000118.3(ENG):c.1742-22T>C rs1085307434
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_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
NM_001114753.2(ENG):c.*461_*464AACT[1] rs41514846
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.*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.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.1183G>T (p.Glu395Ter)
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.1216C>G (p.Arg406Gly)
NM_001114753.3(ENG):c.1234T>G (p.Cys412Gly)
NM_001114753.3(ENG):c.1236T>A (p.Cys412Ter)
NM_001114753.3(ENG):c.1238G>A (p.Gly413Asp)
NM_001114753.3(ENG):c.1238del (p.Gly413fs)
NM_001114753.3(ENG):c.1241T>A (p.Met414Lys)
NM_001114753.3(ENG):c.1241T>C (p.Met414Thr)
NM_001114753.3(ENG):c.1258A>G (p.Met420Val)
NM_001114753.3(ENG):c.1268A>G (p.Asn423Ser)
NM_001114753.3(ENG):c.1272+2T>C
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.1273-2A>T
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.1282A>C (p.Asn428His) rs875989811
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.1311+5G>C
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.1337A>G (p.Asp446Gly)
NM_001114753.3(ENG):c.1346_1347del (p.Ser449fs) rs1564453019
NM_001114753.3(ENG):c.1357G>C (p.Gly453Arg)
NM_001114753.3(ENG):c.1365C>A (p.Tyr455Ter)
NM_001114753.3(ENG):c.1384C>T (p.Gln462Ter)
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.1411C>T (p.Gln471Ter)
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.1429-8C>G
NM_001114753.3(ENG):c.142C>T (p.Gln48Ter)
NM_001114753.3(ENG):c.1434_1435del (p.Arg478fs) rs1564452747
NM_001114753.3(ENG):c.1437_1456dup (p.Phe486fs)
NM_001114753.3(ENG):c.1450_1451del (p.Ser484fs)
NM_001114753.3(ENG):c.146del (p.Val49fs)
NM_001114753.3(ENG):c.1470dup (p.Asp491fs)
NM_001114753.3(ENG):c.1472_1475del (p.Asp491fs)
NM_001114753.3(ENG):c.1484T>C (p.Leu495Pro)
NM_001114753.3(ENG):c.1485G>A (p.Leu495=)
NM_001114753.3(ENG):c.1490T>A (p.Leu497Ter)
NM_001114753.3(ENG):c.1490dup (p.Leu497fs)
NM_001114753.3(ENG):c.149C>T (p.Ser50Leu)
NM_001114753.3(ENG):c.14C>T (p.Thr5Met) rs35400405
NM_001114753.3(ENG):c.1511T>A (p.Val504Glu)
NM_001114753.3(ENG):c.1512G>A (p.Val504=)
NM_001114753.3(ENG):c.1513G>T (p.Glu505Ter)
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.1582_1583del (p.Pro528fs)
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.1614A>G (p.Thr538=)
NM_001114753.3(ENG):c.1626del (p.Thr544fs)
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.1645T>G (p.Cys549Gly)
NM_001114753.3(ENG):c.164del (p.Ala55fs)
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.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.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.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=)
NM_002067.5(GNA11):c.547C>T (p.Arg183Cys) rs1555702147
NM_002072.5(GNAQ):c.548G>A (p.Arg183Gln) rs397514698
NM_002072.5(GNAQ):c.627A>C (p.Gln209His)
NM_002072.5(GNAQ):c.627A>T (p.Gln209His)
NM_002890.2(RASA1):c.1513A[3](p.Ile505Lysfs) rs1554048061
NM_002890.3(RASA1):c.*1000_*1004GTTAA[1] rs886060850
NM_002890.3(RASA1):c.*1001T>C
NM_002890.3(RASA1):c.*164A>G
NM_002890.3(RASA1):c.*16T>C rs770822619
NM_002890.3(RASA1):c.*267C>G
NM_002890.3(RASA1):c.*271A>C
NM_002890.3(RASA1):c.*298T>C rs886060846
NM_002890.3(RASA1):c.*375T>C rs116868431
NM_002890.3(RASA1):c.*424G>A rs191725379
NM_002890.3(RASA1):c.*424G>T rs191725379
NM_002890.3(RASA1):c.*448T>G rs886060847
NM_002890.3(RASA1):c.*476T>G rs543819845
NM_002890.3(RASA1):c.*543A>G rs183575968
NM_002890.3(RASA1):c.*572C>A rs886060848
NM_002890.3(RASA1):c.*577T>C
NM_002890.3(RASA1):c.*606G>A
NM_002890.3(RASA1):c.*733_*735ATT[1] rs374889193
NM_002890.3(RASA1):c.*748A>T
NM_002890.3(RASA1):c.*818T>C rs192141756
NM_002890.3(RASA1):c.*840_*842ATT[1] rs201705926
NM_002890.3(RASA1):c.*852A>G rs182603054
NM_002890.3(RASA1):c.*96C>G
NM_002890.3(RASA1):c.*97A>G rs115086172
NM_002890.3(RASA1):c.*9G>A rs886060845
NM_002890.3(RASA1):c.-128_-126GTT[2] rs371042291
NM_002890.3(RASA1):c.-179A>C rs886060838
NM_002890.3(RASA1):c.-198G>T rs149279711
NM_002890.3(RASA1):c.1017delinsTTAC (p.Gly340_Arg341insTyr)
NM_002890.3(RASA1):c.1022G>A (p.Arg341Gln)
NM_002890.3(RASA1):c.1024dup (p.Glu342fs) rs1554045819
NM_002890.3(RASA1):c.1041A>G (p.Glu347=) rs765138678
NM_002890.3(RASA1):c.1049+5G>T rs1580307103
NM_002890.3(RASA1):c.1052G>A (p.Trp351Ter)
NM_002890.3(RASA1):c.1055T>C (p.Phe352Ser)
NM_002890.3(RASA1):c.105G>T (p.Arg35=)
NM_002890.3(RASA1):c.1076A>T (p.Gln359Leu)
NM_002890.3(RASA1):c.1102+10T>C rs150779406
NM_002890.3(RASA1):c.1103-1G>T
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.1164_1165del (p.Tyr389fs)
NM_002890.3(RASA1):c.1172G>A (p.Arg391Gln)
NM_002890.3(RASA1):c.1192C>T (p.Arg398Ter) rs1210180190
NM_002890.3(RASA1):c.1209A>G (p.Pro403=)
NM_002890.3(RASA1):c.1218C>A (p.Asn406Lys)
NM_002890.3(RASA1):c.1222C>T (p.Gln408Ter)
NM_002890.3(RASA1):c.124C>T (p.Leu42=)
NM_002890.3(RASA1):c.1254-4A>T rs369061989
NM_002890.3(RASA1):c.1257dup (p.Gly420fs)
NM_002890.3(RASA1):c.126G>T (p.Leu42=)
NM_002890.3(RASA1):c.1279C>T (p.Arg427Ter) rs975191415
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.1305T>C (p.Tyr435=) rs778801311
NM_002890.3(RASA1):c.1308T>C (p.Tyr436=) rs747987480
NM_002890.3(RASA1):c.1324C>T (p.Pro442Ser) rs532587037
NM_002890.3(RASA1):c.1332+2T>G
NM_002890.3(RASA1):c.1332+8T>C rs376637789
NM_002890.3(RASA1):c.1333-17_1340del
NM_002890.3(RASA1):c.1347A>G (p.Val449=)
NM_002890.3(RASA1):c.1348C>T (p.Leu450Phe) rs757166432
NM_002890.3(RASA1):c.1352A>G (p.Asn451Ser) rs529871259
NM_002890.3(RASA1):c.1358_1359del (p.Thr453fs) rs1060503439
NM_002890.3(RASA1):c.1368C>T (p.Gly456=) rs774547215
NM_002890.3(RASA1):c.1371G>A (p.Lys457=) rs140707293
NM_002890.3(RASA1):c.1380T>C (p.Tyr460=) rs761191995
NM_002890.3(RASA1):c.1390C>T (p.Arg464Cys)
NM_002890.3(RASA1):c.1394G>A (p.Arg465His) rs181630831
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.1444C>T (p.Leu482=)
NM_002890.3(RASA1):c.146A>G (p.Tyr49Cys) rs1580178685
NM_002890.3(RASA1):c.1494G>A (p.Glu498=) rs200197533
NM_002890.3(RASA1):c.1535G>A (p.Arg512Gln)
NM_002890.3(RASA1):c.1567A>G (p.Ser523Gly)
NM_002890.3(RASA1):c.1579_1582del (p.Val527fs)
NM_002890.3(RASA1):c.1583A>G (p.Tyr528Cys) rs145752649
NM_002890.3(RASA1):c.1584T>C (p.Tyr528=)
NM_002890.3(RASA1):c.1605T>C (p.Phe535=) rs1459643901
NM_002890.3(RASA1):c.1611-15G>A
NM_002890.3(RASA1):c.1619G>A (p.Cys540Tyr) rs137853217
NM_002890.3(RASA1):c.1627A>G (p.Ile543Val)
NM_002890.3(RASA1):c.162G>C (p.Glu54Asp) rs201502793
NM_002890.3(RASA1):c.1644T>C (p.Phe548=) rs749876769
NM_002890.3(RASA1):c.1651G>A (p.Glu551Lys) rs878854568
NM_002890.3(RASA1):c.1659C>A (p.Tyr553Ter) rs747745016
NM_002890.3(RASA1):c.1698+2T>C rs1561316757
NM_002890.3(RASA1):c.1722A>G (p.Ala574=) rs200157130
NM_002890.3(RASA1):c.172_173del (p.Ala58fs)
NM_002890.3(RASA1):c.1760A>G (p.Asn587Ser) rs894219060
NM_002890.3(RASA1):c.1772G>A (p.Arg591His)
NM_002890.3(RASA1):c.1777-14T>A rs36000817
NM_002890.3(RASA1):c.1777-15_1777-14insA rs202147617
NM_002890.3(RASA1):c.1777-2A>T
NM_002890.3(RASA1):c.1777-3T>A rs1580380301
NM_002890.3(RASA1):c.1780A>G (p.Ser594Gly)
NM_002890.3(RASA1):c.1795delinsGTAAA (p.His599fs)
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.1911A>G (p.Val637=) rs370957991
NM_002890.3(RASA1):c.1914G>T (p.Trp638Cys)
NM_002890.3(RASA1):c.1926dup (p.Val643fs)
NM_002890.3(RASA1):c.1934+2T>G
NM_002890.3(RASA1):c.1935-3T>C rs201249348
NM_002890.3(RASA1):c.1935-3T>G rs201249348
NM_002890.3(RASA1):c.1938T>C (p.Asp646=) rs549861815
NM_002890.3(RASA1):c.1943C>T (p.Pro648Leu)
NM_002890.3(RASA1):c.1968A>T (p.Ile656=) rs370819852
NM_002890.3(RASA1):c.1970C>T (p.Thr657Ile)
NM_002890.3(RASA1):c.2011+4A>C rs886060840
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.2033G>A (p.Ser678Asn) rs192308897
NM_002890.3(RASA1):c.2049G>C (p.Gly683=) rs886060841
NM_002890.3(RASA1):c.2052T>C (p.His684=)
NM_002890.3(RASA1):c.2089C>G (p.Pro697Ala)
NM_002890.3(RASA1):c.209A>G (p.Glu70Gly) rs146525982
NM_002890.3(RASA1):c.2125C>T (p.Arg709Ter) rs1554049422
NM_002890.3(RASA1):c.2131C>T (p.Arg711Ter) rs863223718
NM_002890.3(RASA1):c.2134T>C (p.Tyr712His)
NM_002890.3(RASA1):c.2138C>G (p.Ser713Cys)
NM_002890.3(RASA1):c.2139T>C (p.Ser713=)
NM_002890.3(RASA1):c.2171G>A (p.Ser724Asn)
NM_002890.3(RASA1):c.2182G>T (p.Glu728Ter)
NM_002890.3(RASA1):c.2189T>C (p.Ile730Thr)
NM_002890.3(RASA1):c.2239C>A (p.Gln747Lys) rs1561322754
NM_002890.3(RASA1):c.2245C>T (p.Arg749Ter) rs1204340475
NM_002890.3(RASA1):c.224G>C (p.Gly75Ala) rs200002693
NM_002890.3(RASA1):c.2252_2255dup (p.Ala753fs) rs1580386963
NM_002890.3(RASA1):c.2259C>T (p.Ala753=) rs552498036
NM_002890.3(RASA1):c.2266C>T (p.Leu756=) rs776305383
NM_002890.3(RASA1):c.2286C>T (p.His762=) rs373059169
NM_002890.3(RASA1):c.2288A>T (p.Glu763Val) rs373098580
NM_002890.3(RASA1):c.2300C>T (p.Ser767Leu) rs763915835
NM_002890.3(RASA1):c.2316A>G (p.Thr772=)
NM_002890.3(RASA1):c.2333dup (p.Ser779fs) rs1347210621
NM_002890.3(RASA1):c.2345-5T>C
NM_002890.3(RASA1):c.2345-6del rs747443446
NM_002890.3(RASA1):c.2345-9T>C rs1580390526
NM_002890.3(RASA1):c.2366G>A (p.Arg789Gln)
NM_002890.3(RASA1):c.239C>T (p.Ala80Val)
NM_002890.3(RASA1):c.2402dup (p.Tyr801Ter)
NM_002890.3(RASA1):c.241C>G (p.Leu81Val)
NM_002890.3(RASA1):c.2434C>T (p.His812Tyr)
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.2451dup (p.Ile818fs)
NM_002890.3(RASA1):c.2452_2453del (p.Ile818fs)
NM_002890.3(RASA1):c.2461A>G (p.Ile821Val) rs1554049698
NM_002890.3(RASA1):c.2487+11A>C rs886060842
NM_002890.3(RASA1):c.2487+13T>A
NM_002890.3(RASA1):c.248G>A (p.Gly83Glu) rs755788420
NM_002890.3(RASA1):c.248G>T (p.Gly83Val)
NM_002890.3(RASA1):c.2528C>A (p.Thr843Asn) rs184201084
NM_002890.3(RASA1):c.2529dup (p.Asn844Ter) rs878854569
NM_002890.3(RASA1):c.2532_2533delinsATTTGA (p.Asn844fs)
NM_002890.3(RASA1):c.253G>A (p.Gly85Arg)
NM_002890.3(RASA1):c.2557dup (p.Ser853fs) rs1554049825
NM_002890.3(RASA1):c.2574A>T (p.Lys858Asn)
NM_002890.3(RASA1):c.2582T>C (p.Met861Thr)
NM_002890.3(RASA1):c.2603+1G>A rs983011713
NM_002890.3(RASA1):c.2603+2dup rs1580394003
NM_002890.3(RASA1):c.2603C>T (p.Pro868Leu) rs138785106
NM_002890.3(RASA1):c.2608T>C (p.Leu870=) rs372498033
NM_002890.3(RASA1):c.260C>G (p.Thr87Arg) rs553059467
NM_002890.3(RASA1):c.261_262del (p.Gly89fs) rs1384480619
NM_002890.3(RASA1):c.2622T>C (p.Tyr874=) rs759595320
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.2691-11C>T rs149730288
NM_002890.3(RASA1):c.2691-4T>C rs201365157
NM_002890.3(RASA1):c.2698_2701del (p.Val900fs) rs886041232
NM_002890.3(RASA1):c.2700T>C (p.Val900=)
NM_002890.3(RASA1):c.2707C>T (p.Arg903Ter) rs1554050230
NM_002890.3(RASA1):c.2724C>T (p.Ala908=)
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.2766A>T (p.Pro922=) rs137898246
NM_002890.3(RASA1):c.2773A>G (p.Ile925Val) rs140786299
NM_002890.3(RASA1):c.2794T>C (p.Leu932=) rs199733745
NM_002890.3(RASA1):c.2795T>C (p.Leu932Ser) rs1554050426
NM_002890.3(RASA1):c.27G>T (p.Glu9Asp)
NM_002890.3(RASA1):c.2810_2811del (p.Val937fs)
NM_002890.3(RASA1):c.2847+1G>A rs1060503438
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.2925+1del
NM_002890.3(RASA1):c.2925+9A>T rs1554050607
NM_002890.3(RASA1):c.2926-14C>T rs886060843
NM_002890.3(RASA1):c.2926-8C>T rs369251473
NM_002890.3(RASA1):c.2942C>T (p.Pro981Leu) rs772714180
NM_002890.3(RASA1):c.2943G>A (p.Pro981=)
NM_002890.3(RASA1):c.296C>T (p.Ala99Val) rs111840875
NM_002890.3(RASA1):c.3009G>C (p.Val1003=) rs778423443
NM_002890.3(RASA1):c.3028C>T (p.Arg1010Ter)
NM_002890.3(RASA1):c.3029G>A (p.Arg1010Gln) rs886060844
NM_002890.3(RASA1):c.303_326del (p.Val102_Gly109del)
NM_002890.3(RASA1):c.3043G>T (p.Glu1015Ter) rs1561333645
NM_002890.3(RASA1):c.304G>T (p.Val102Leu) rs115606026
NM_002890.3(RASA1):c.3050del (p.Gly1017fs)
NM_002890.3(RASA1):c.3055C>T (p.Gln1019Ter) rs1060503440
NM_002890.3(RASA1):c.3060+10C>T rs768479962
NM_002890.3(RASA1):c.3060+1G>T rs1580418269
NM_002890.3(RASA1):c.3060+9dup rs574384512
NM_002890.3(RASA1):c.3067T>C (p.Leu1023=) rs3747704
NM_002890.3(RASA1):c.3085A>G (p.Ile1029Val) rs377550978
NM_002890.3(RASA1):c.3109_3112del (p.Gln1037fs) rs1554051094
NM_002890.3(RASA1):c.3132T>C (p.Asn1044=)
NM_002890.3(RASA1):c.3135T>C (p.Asp1045=) rs1166197926
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.347T>C (p.Leu116Pro) rs145201086
NM_002890.3(RASA1):c.34G>A (p.Gly12Ser)
NM_002890.3(RASA1):c.351C>T (p.Thr117=) rs763970609
NM_002890.3(RASA1):c.358C>T (p.Pro120Ser)
NM_002890.3(RASA1):c.360C>A (p.Pro120=) rs137878395
NM_002890.3(RASA1):c.360C>G (p.Pro120=)
NM_002890.3(RASA1):c.365C>A (p.Ser122Ter)
NM_002890.3(RASA1):c.370C>T (p.Leu124Phe) rs200883284
NM_002890.3(RASA1):c.384C>T (p.Leu128=) rs34385096
NM_002890.3(RASA1):c.395_396delinsTT (p.Gly132Val) rs1554038863
NM_002890.3(RASA1):c.396C>T (p.Gly132=) rs898128418
NM_002890.3(RASA1):c.402T>C (p.Phe134=)
NM_002890.3(RASA1):c.407C>G (p.Pro136Arg)
NM_002890.3(RASA1):c.407C>T (p.Pro136Leu) rs769463654
NM_002890.3(RASA1):c.412C>T (p.Pro138Ser) rs775315018
NM_002890.3(RASA1):c.414C>G (p.Pro138=) rs762661391
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.442dup (p.Ala148fs)
NM_002890.3(RASA1):c.448C>T (p.Leu150Phe)
NM_002890.3(RASA1):c.44C>T (p.Thr15Ile)
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.475_476del (p.Leu159fs) rs797044451
NM_002890.3(RASA1):c.492C>A (p.Tyr164Ter)
NM_002890.3(RASA1):c.499del (p.Glu167fs)
NM_002890.3(RASA1):c.508G>A (p.Ala170Thr) rs761820082
NM_002890.3(RASA1):c.522C>T (p.Thr174=)
NM_002890.3(RASA1):c.539+1G>C
NM_002890.3(RASA1):c.539+3A>G rs1561245221
NM_002890.3(RASA1):c.566C>T (p.Thr189Met)
NM_002890.3(RASA1):c.567G>A (p.Thr189=)
NM_002890.3(RASA1):c.578_581dup (p.Leu195fs)
NM_002890.3(RASA1):c.602C>T (p.Ser201Phe)
NM_002890.3(RASA1):c.612T>C (p.Tyr204=) rs377014568
NM_002890.3(RASA1):c.613_617del (p.Leu205fs) rs1060503441
NM_002890.3(RASA1):c.617T>C (p.Ile206Thr) rs182498192
NM_002890.3(RASA1):c.64G>T (p.Gly22Cys) rs371413736
NM_002890.3(RASA1):c.656C>G (p.Ser219Ter) rs1554044823
NM_002890.3(RASA1):c.656C>T (p.Ser219Leu)
NM_002890.3(RASA1):c.693-5A>G
NM_002890.3(RASA1):c.693-6_711del
NM_002890.3(RASA1):c.703A>G (p.Met235Val)
NM_002890.3(RASA1):c.75G>A (p.Ala25=)
NM_002890.3(RASA1):c.78C>T (p.Gly26=) rs752084710
NM_002890.3(RASA1):c.79T>C (p.Ser27Pro)
NM_002890.3(RASA1):c.828+1G>A
NM_002890.3(RASA1):c.829-12T>A rs187379673
NM_002890.3(RASA1):c.829-9G>A rs1348578241
NM_002890.3(RASA1):c.848G>A (p.Arg283His)
NM_002890.3(RASA1):c.853C>T (p.Arg285Ter) rs137853218
NM_002890.3(RASA1):c.854G>A (p.Arg285Gln)
NM_002890.3(RASA1):c.885C>A (p.Asp295Glu)
NM_002890.3(RASA1):c.899+8A>G rs781285667
NM_002890.3(RASA1):c.917T>C (p.Met306Thr) rs757272694
NM_002890.3(RASA1):c.92C>G (p.Pro31Arg)
NM_002890.3(RASA1):c.934_938del (p.Glu312fs)
NM_004444.5(EPHB4):c.1123G>T (p.Gly375Ter) rs1484547615
NM_004444.5(EPHB4):c.1406T>G (p.Val469Gly) rs1584662591
NM_004444.5(EPHB4):c.1546G>A (p.Gly516Arg) rs776305185
NM_004444.5(EPHB4):c.175G>A (p.Glu59Lys) rs1584667224
NM_004444.5(EPHB4):c.1950G>T (p.Lys650Asn) rs1584658113
NM_004444.5(EPHB4):c.1966C>T (p.Arg656Trp) rs745584371
NM_004444.5(EPHB4):c.1990G>A (p.Glu664Lys) rs1562969219
NM_004444.5(EPHB4):c.2102T>G (p.Leu701Arg)
NM_004444.5(EPHB4):c.2173G>A (p.Ala725Thr) rs1159930961
NM_004444.5(EPHB4):c.221G>C (p.Arg74Pro) rs61735971
NM_004444.5(EPHB4):c.2233A>G (p.Asn745Asp) rs1584654433
NM_004444.5(EPHB4):c.2365C>T (p.Pro789Ser) rs1417508111
NM_004444.5(EPHB4):c.2366C>G (p.Pro789Arg) rs753075600
NM_004444.5(EPHB4):c.2405A>G (p.Asp802Gly) rs776410552
NM_004444.5(EPHB4):c.2418C>G (p.Tyr806Ter) rs377702127
NM_004444.5(EPHB4):c.2419G>A (p.Gly807Arg) rs1330628156
NM_004444.5(EPHB4):c.2458C>A (p.Pro820Thr) rs1584653653
NM_004444.5(EPHB4):c.2459C>T (p.Pro820Leu) rs1584653650
NM_004444.5(EPHB4):c.2484+1G>A rs927772349
NM_004444.5(EPHB4):c.2484+1G>T rs927772349
NM_004444.5(EPHB4):c.2484+2dup rs1584653620
NM_004444.5(EPHB4):c.2512C>T (p.Arg838Trp) rs764827256
NM_004444.5(EPHB4):c.2533T>C (p.Cys845Arg) rs1584653054
NM_004444.5(EPHB4):c.2567G>A (p.Cys856Tyr) rs1584653005
NM_004444.5(EPHB4):c.2590C>T (p.Arg864Trp) rs769965440
NM_004444.5(EPHB4):c.2599T>C (p.Phe867Leu) rs1584652949
NM_004444.5(EPHB4):c.2609T>A (p.Val870Glu) rs1584652920
NM_004444.5(EPHB4):c.2621T>C (p.Leu874Pro) rs1584652900
NM_004444.5(EPHB4):c.319T>C (p.Cys107Arg) rs1562974383
NM_004444.5(EPHB4):c.33del (p.Leu12fs) rs1562976493
NM_004444.5(EPHB4):c.389G>A (p.Trp130Ter) rs1584666961
NM_004444.5(EPHB4):c.560T>C (p.Leu187Pro) rs1584666053
NM_004444.5(EPHB4):c.570dup (p.His191fs) rs1562973614
NM_004444.5(EPHB4):c.632_633del (p.Val211fs) rs1562973541
NM_004444.5(EPHB4):c.802T>C (p.Cys268Arg) rs201816920
NM_005359.5(SMAD4):c.*4587_*4590delGAGA rs374333786
NM_005359.5(SMAD4):c.*5543_*5546dupGCGC rs68159021
NM_005359.5(SMAD4):c.*5545_*5546delGC rs68159021
NM_005359.5(SMAD4):c.*5564_*5577dupCACACACACACACA rs56017493
NM_005359.5(SMAD4):c.*5570_*5577dupCACACACA rs56017493
NM_005359.5(SMAD4):c.*5572_*5577delCACACA rs56017493
NM_005359.5(SMAD4):c.*5574_*5577delCACA rs56017493
NM_005359.5(SMAD4):c.*5576_*5577delCA rs56017493
NM_005359.5(SMAD4):c.*5576_*5577dupCA rs56017493
NM_005359.5(SMAD4):c.*5637_*5640delACAC rs368759758
NM_005359.5(SMAD4):c.*6162_*6165delGATT rs886053936
NM_005359.5(SMAD4):c.*6586C>T rs534182161
NM_005359.5(SMAD4):c.*6588C>G rs186324049
NM_005359.5(SMAD4):c.-503_-501delACA rs886053885
NM_005359.6(SMAD4):c.*1169_*1173del rs138404813
NM_005359.6(SMAD4):c.*1512dup rs755827115
NM_005359.6(SMAD4):c.*1564_*1567del rs886053903
NM_005359.6(SMAD4):c.*2630A>G rs768569083
NM_005359.6(SMAD4):c.*2707_*2711del rs769541605
NM_005359.6(SMAD4):c.*2968del rs574286440
NM_005359.6(SMAD4):c.*3843G>A rs886053915
NM_005359.6(SMAD4):c.*3878dup rs373831598
NM_005359.6(SMAD4):c.*4867dup rs571773833
NM_005359.6(SMAD4):c.*4991dup rs886053919
NM_005359.6(SMAD4):c.*5004_*5005dup rs113155703
NM_005359.6(SMAD4):c.*5535_*5540del rs147193925
NM_005359.6(SMAD4):c.*5535_*5545delinsGCGCACA rs886053923
NM_005359.6(SMAD4):c.*5535_*5547delinsGCG rs886053924
NM_005359.6(SMAD4):c.*5535_*5549delinsG rs886053925
NM_005359.6(SMAD4):c.*5546_*5547insGCAC rs1555688055
NM_005359.6(SMAD4):c.*5546_*5547insGCACAC rs1555688055
NM_005359.6(SMAD4):c.*5546_*5547insGCACACAC rs1555688055
NM_005359.6(SMAD4):c.*5546_*5547insGCACACACAC rs1555688055
NM_005359.6(SMAD4):c.*5576C>G rs886053930
NM_005359.6(SMAD4):c.*5691_*5693del rs374306389
NM_005359.6(SMAD4):c.*5757dup rs886053931
NM_005359.6(SMAD4):c.*5863_*5867del rs78989198
NM_005359.6(SMAD4):c.*6353del rs573785159
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) rs121913272
NM_016204.4(GDF2):c.1005C>T (p.Asn335=)
NM_016204.4(GDF2):c.1008C>T (p.Phe336=) rs1041318325
NM_016204.4(GDF2):c.1017C>T (p.Ile339=) rs148730910
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.1051T>C (p.Tyr351His) rs1486994359
NM_016204.4(GDF2):c.1063G>A (p.Glu355Lys) rs1200646207
NM_016204.4(GDF2):c.1068T>C (p.Cys356=) rs781876898
NM_016204.4(GDF2):c.1075G>A (p.Gly359Ser)
NM_016204.4(GDF2):c.1098C>T (p.Asp366=) rs781981224
NM_016204.4(GDF2):c.1101T>C (p.Asp367=)
NM_016204.4(GDF2):c.1104G>A (p.Val368=)
NM_016204.4(GDF2):c.1112C>T (p.Thr371Met) rs782198119
NM_016204.4(GDF2):c.1125C>A (p.Ile375=)
NM_016204.4(GDF2):c.1207G>A (p.Val403Ile)
NM_016204.4(GDF2):c.1255G>A (p.Glu419Lys) rs782137039
NM_016204.4(GDF2):c.1266C>T (p.Ser422=)
NM_016204.4(GDF2):c.1267G>A (p.Val423Met) rs1358534877
NM_016204.4(GDF2):c.126G>A (p.Gly42=)
NM_016204.4(GDF2):c.1281G>T (p.Gly427=) rs781842184
NM_016204.4(GDF2):c.1290G>A (p.Ter430=) rs139568056
NM_016204.4(GDF2):c.18G>A (p.Leu6=)
NM_016204.4(GDF2):c.198C>T (p.Phe66=)
NM_016204.4(GDF2):c.203G>A (p.Arg68His) rs200330818
NM_016204.4(GDF2):c.203G>T (p.Arg68Leu) rs200330818
NM_016204.4(GDF2):c.221G>A (p.Gly74Glu)
NM_016204.4(GDF2):c.252G>A (p.Glu84=)
NM_016204.4(GDF2):c.254C>T (p.Pro85Leu) rs199804679
NM_016204.4(GDF2):c.286T>C (p.Tyr96His) rs142466901
NM_016204.4(GDF2):c.303G>A (p.Ser101=)
NM_016204.4(GDF2):c.314C>T (p.Ala105Val)
NM_016204.4(GDF2):c.315G>A (p.Ala105=)
NM_016204.4(GDF2):c.326T>C (p.Val109Ala) rs782118500
NM_016204.4(GDF2):c.346+10C>T rs117345807
NM_016204.4(GDF2):c.348T>C (p.Asp116=)
NM_016204.4(GDF2):c.34C>T (p.Leu12=) rs61758973
NM_016204.4(GDF2):c.352A>T (p.Ile118Phe)
NM_016204.4(GDF2):c.378C>A (p.Phe126Leu) rs180821007
NM_016204.4(GDF2):c.40_48dup (p.Ser14_Leu16dup)
NM_016204.4(GDF2):c.478G>A (p.Val160Met) rs144705412
NM_016204.4(GDF2):c.615G>A (p.Leu205=)
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.652G>A (p.Asp218Asn) rs142402214
NM_016204.4(GDF2):c.654C>T (p.Asp218=)
NM_016204.4(GDF2):c.69G>A (p.Lys23=)
NM_016204.4(GDF2):c.69G>T (p.Lys23Asn)
NM_016204.4(GDF2):c.711C>T (p.Cys237=) rs146775536
NM_016204.4(GDF2):c.714C>T (p.Asp238=) rs782288867
NM_016204.4(GDF2):c.716C>T (p.Thr239Met) rs782560993
NM_016204.4(GDF2):c.732C>T (p.Val244=) rs145385373
NM_016204.4(GDF2):c.73C>T (p.Leu25=) rs200760960
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.774C>T (p.Ser258=)
NM_016204.4(GDF2):c.776A>G (p.Asn259Ser) rs140271276
NM_016204.4(GDF2):c.792G>C (p.Gly264=) rs781907754
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.900C>T (p.His300=)
NM_016204.4(GDF2):c.911C>T (p.Thr304Met) rs75024165
NM_016204.4(GDF2):c.917G>A (p.Gly306Asp)
NM_016204.4(GDF2):c.930G>A (p.Ala310=)
NM_016204.4(GDF2):c.933G>A (p.Gly311=)
NM_016204.4(GDF2):c.936G>A (p.Ser312=)
NM_016204.4(GDF2):c.949C>T (p.Arg317Trp) rs559992144
NM_016204.4(GDF2):c.963C>A (p.Ala321=) rs370309301
NM_016204.4(GDF2):c.964G>A (p.Gly322Arg) rs782796080
NM_016204.4(GDF2):c.997C>T (p.Arg333Trp) rs35129734
Single allele

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