ClinVar Miner

List of variants in gene ACVRL1 reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 433
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HGVS dbSNP gnomAD frequency
NM_000020.3(ACVRL1):c.536A>C (p.Asp179Ala) rs753792569 0.00009
NM_000020.3(ACVRL1):c.208G>A (p.Gly70Arg) rs1439294840 0.00002
NM_000020.3(ACVRL1):c.1121G>A (p.Arg374Gln) rs1060503248 0.00001
NM_000020.3(ACVRL1):c.1135G>A (p.Glu379Lys) rs1131691686 0.00001
NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln) rs121909284 0.00001
NM_000020.3(ACVRL1):c.1436G>A (p.Arg479Gln) rs1085307426 0.00001
NM_000020.3(ACVRL1):c.1450C>T (p.Arg484Trp) rs121909288 0.00001
NM_000020.3(ACVRL1):c.199C>T (p.Arg67Trp) rs1085307405 0.00001
NM_000020.3(ACVRL1):c.916del (p.Ala306fs) rs1064796070 0.00001
ACVRL1, ARG67TRP
NC_000012.11:g.(?_52297387)_(52306941_?)del
NC_000012.11:g.(?_52301495)_(52307461_?)del
NC_000012.11:g.(?_52306239)_(52314697_?)del
NC_000012.11:g.(?_52306259)_(52307877_?)del
NC_000012.11:g.(?_52306259)_(52309304_?)del
NC_000012.11:g.(?_52306863)_(52310037_?)del
NC_000012.11:g.(?_52307805)_(52315735_?)del
NC_000012.11:g.(?_52308317)_(52322674_?)del
NC_000012.11:g.(?_52309800)_(52310037_?)del
NC_000012.11:g.(?_52314523)_(52314677_?)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
NM_000020.3(ACVRL1):c.1008_1009del (p.Leu337fs)
NM_000020.3(ACVRL1):c.100T>A (p.Cys34Ser)
NM_000020.3(ACVRL1):c.100T>C (p.Cys34Arg)
NM_000020.3(ACVRL1):c.100dup (p.Cys34fs) rs1555152440
NM_000020.3(ACVRL1):c.1010del (p.Leu337fs) rs2139074041
NM_000020.3(ACVRL1):c.1015A>T (p.Lys339Ter) rs1940812366
NM_000020.3(ACVRL1):c.101G>A (p.Cys34Tyr)
NM_000020.3(ACVRL1):c.1025T>C (p.Leu342Pro) rs762287966
NM_000020.3(ACVRL1):c.1027C>T (p.Gln343Ter) rs1064796530
NM_000020.3(ACVRL1):c.1027_1047del (p.Gln343_Leu349del) rs1592224385
NM_000020.3(ACVRL1):c.1028A>C (p.Gln343Pro) rs1592224402
NM_000020.3(ACVRL1):c.102C>A (p.Cys34Ter) rs1226848374
NM_000020.3(ACVRL1):c.1030T>C (p.Cys344Arg) rs1592224412
NM_000020.3(ACVRL1):c.1031G>A (p.Cys344Tyr) rs28936688
NM_000020.3(ACVRL1):c.1031G>T (p.Cys344Phe) rs28936688
NM_000020.3(ACVRL1):c.1031_1032dup (p.Cys345fs) rs863223417
NM_000020.3(ACVRL1):c.1032T>A (p.Cys344Ter) rs368437392
NM_000020.3(ACVRL1):c.1033T>C (p.Cys345Arg) rs1060503239
NM_000020.3(ACVRL1):c.1034G>T (p.Cys345Phe)
NM_000020.3(ACVRL1):c.1035C>A (p.Cys345Ter)
NM_000020.3(ACVRL1):c.1036_1040del (p.Ile346fs) rs1565594524
NM_000020.3(ACVRL1):c.1037_1039del (p.Ile346_Ala347delinsThr) rs1940813707
NM_000020.3(ACVRL1):c.1041del (p.Asp348fs) rs1940813766
NM_000020.3(ACVRL1):c.1042G>A (p.Asp348Asn)
NM_000020.3(ACVRL1):c.1042G>C (p.Asp348His)
NM_000020.3(ACVRL1):c.1042G>T (p.Asp348Tyr) rs1940813954
NM_000020.3(ACVRL1):c.1042del (p.Asp348fs) rs1565594536
NM_000020.3(ACVRL1):c.1043_1048+1dup rs1940814079
NM_000020.3(ACVRL1):c.1046T>C (p.Leu349Pro) rs765895870
NM_000020.3(ACVRL1):c.1048+1G>A rs2139074368
NM_000020.3(ACVRL1):c.1048+1G>C
NM_000020.3(ACVRL1):c.1048+1G>T
NM_000020.3(ACVRL1):c.1048+2T>C
NM_000020.3(ACVRL1):c.1048G>C (p.Gly350Arg) rs1565594547
NM_000020.3(ACVRL1):c.1049-1G>A rs1060503242
NM_000020.3(ACVRL1):c.1055C>A (p.Ala352Asp) rs1085307415
NM_000020.3(ACVRL1):c.1055del (p.Ala352fs) rs1940830552
NM_000020.3(ACVRL1):c.105del (p.Cys36fs) rs1555152447
NM_000020.3(ACVRL1):c.1069C>T (p.Gln357Ter) rs2139075900
NM_000020.3(ACVRL1):c.106T>C (p.Cys36Arg) rs2139064443
NM_000020.3(ACVRL1):c.1073del (p.Gly358fs) rs2139075930
NM_000020.3(ACVRL1):c.1083C>A (p.Tyr361Ter)
NM_000020.3(ACVRL1):c.1113_1114insG (p.Thr372fs) rs387906394
NM_000020.3(ACVRL1):c.1115C>T (p.Thr372Ile) rs1565594920
NM_000020.3(ACVRL1):c.1120C>T (p.Arg374Trp) rs28936401
NM_000020.3(ACVRL1):c.1122del (p.Tyr375fs) rs863223418
NM_000020.3(ACVRL1):c.1123T>A (p.Tyr375Asn)
NM_000020.3(ACVRL1):c.1124A>G (p.Tyr375Cys) rs1085307416
NM_000020.3(ACVRL1):c.1125C>A (p.Tyr375Ter)
NM_000020.3(ACVRL1):c.1126A>G (p.Met376Val) rs1555153277
NM_000020.3(ACVRL1):c.1127T>A (p.Met376Lys)
NM_000020.3(ACVRL1):c.1127T>G (p.Met376Arg) rs28936399
NM_000020.3(ACVRL1):c.1129G>A (p.Ala377Thr) rs1565594969
NM_000020.3(ACVRL1):c.1130C>T (p.Ala377Val)
NM_000020.3(ACVRL1):c.1132C>T (p.Pro378Ser) rs959973779
NM_000020.3(ACVRL1):c.1133C>A (p.Pro378His)
NM_000020.3(ACVRL1):c.1133C>T (p.Pro378Leu)
NM_000020.3(ACVRL1):c.1139T>G (p.Val380Gly)
NM_000020.3(ACVRL1):c.1142T>C (p.Leu381Pro) rs1085307417
NM_000020.3(ACVRL1):c.1144del (p.Asp382fs) rs1565595009
NM_000020.3(ACVRL1):c.1147G>T (p.Glu383Ter) rs148057374
NM_000020.3(ACVRL1):c.1153_1157dup (p.Thr387fs) rs1940834530
NM_000020.3(ACVRL1):c.115_116del (p.Pro39fs) rs2139064475
NM_000020.3(ACVRL1):c.1171G>T (p.Glu391Ter) rs1940836063
NM_000020.3(ACVRL1):c.1189G>A (p.Asp397Asn) rs1940836783
NM_000020.3(ACVRL1):c.1193T>A (p.Ile398Asn) rs121909286
NM_000020.3(ACVRL1):c.1195T>C (p.Trp399Arg) rs1085307418
NM_000020.3(ACVRL1):c.1195T>G (p.Trp399Gly) rs1085307418
NM_000020.3(ACVRL1):c.1196G>A (p.Trp399Ter) rs121909289
NM_000020.3(ACVRL1):c.1196G>C (p.Trp399Ser) rs121909289
NM_000020.3(ACVRL1):c.1196G>T (p.Trp399Leu) rs121909289
NM_000020.3(ACVRL1):c.1197G>A (p.Trp399Ter) rs1940837338
NM_000020.3(ACVRL1):c.1198G>A (p.Ala400Thr)
NM_000020.3(ACVRL1):c.1198del (p.Ala400fs)
NM_000020.3(ACVRL1):c.1199C>A (p.Ala400Asp) rs2139076990
NM_000020.3(ACVRL1):c.1199C>T (p.Ala400Val)
NM_000020.3(ACVRL1):c.1204G>A (p.Gly402Ser) rs1555153354
NM_000020.3(ACVRL1):c.1215del (p.Trp406fs) rs2139077020
NM_000020.3(ACVRL1):c.1217G>A (p.Trp406Ter) rs1060503235
NM_000020.3(ACVRL1):c.1218G>T (p.Trp406Cys) rs2139077046
NM_000020.3(ACVRL1):c.1219G>A (p.Glu407Lys) rs1057521203
NM_000020.3(ACVRL1):c.121T>C (p.Cys41Arg)
NM_000020.3(ACVRL1):c.121T>G (p.Cys41Gly) rs2139064528
NM_000020.3(ACVRL1):c.1220A>G (p.Glu407Gly) rs1565595121
NM_000020.3(ACVRL1):c.1221G>T (p.Glu407Asp) rs1565595129
NM_000020.3(ACVRL1):c.1230_1244del (p.Arg411_Asn415del)
NM_000020.3(ACVRL1):c.1231C>T (p.Arg411Trp) rs121909287
NM_000020.3(ACVRL1):c.1232G>C (p.Arg411Pro) rs121909284
NM_000020.3(ACVRL1):c.1246+1G>A rs1565595176
NM_000020.3(ACVRL1):c.1246+1G>T
NM_000020.3(ACVRL1):c.1246+2T>C rs1555153382
NM_000020.3(ACVRL1):c.1246G>A (p.Gly416Ser) rs1592225112
NM_000020.3(ACVRL1):c.1250_1269del (p.Ile417fs) rs1555153796
NM_000020.3(ACVRL1):c.1260del (p.Tyr421fs)
NM_000020.3(ACVRL1):c.1261T>G (p.Tyr421Asp)
NM_000020.3(ACVRL1):c.1270C>A (p.Pro424Thr) rs1085307419
NM_000020.3(ACVRL1):c.1270C>T (p.Pro424Ser) rs1085307419
NM_000020.3(ACVRL1):c.1271C>G (p.Pro424Arg) rs1940906429
NM_000020.3(ACVRL1):c.1271C>T (p.Pro424Leu)
NM_000020.3(ACVRL1):c.1275C>G (p.Phe425Leu)
NM_000020.3(ACVRL1):c.1277A>G (p.Tyr426Cys) rs771606504
NM_000020.3(ACVRL1):c.1280A>T (p.Asp427Val) rs1085307420
NM_000020.3(ACVRL1):c.1283del (p.Val428fs)
NM_000020.3(ACVRL1):c.128_132del (p.Gly43fs)
NM_000020.3(ACVRL1):c.1297C>T (p.Pro433Ser) rs2139084154
NM_000020.3(ACVRL1):c.1298C>T (p.Pro433Leu)
NM_000020.3(ACVRL1):c.129dup (p.Pro44fs) rs1940731395
NM_000020.3(ACVRL1):c.130_143del (p.Pro44fs) rs2139064592
NM_000020.3(ACVRL1):c.130_146delinsTGCACAGTAGTG (p.Pro44fs)
NM_000020.3(ACVRL1):c.1310A>G (p.Asp437Gly) rs1060503238
NM_000020.3(ACVRL1):c.1315A>T (p.Lys439Ter)
NM_000020.3(ACVRL1):c.131_132insCACA (p.Cys46fs) rs2139064649
NM_000020.3(ACVRL1):c.1321G>A (p.Val441Met) rs1565596498
NM_000020.3(ACVRL1):c.1323_1324dup (p.Val442fs) rs1555153830
NM_000020.3(ACVRL1):c.1324G>A (p.Val442Met) rs1085307421
NM_000020.3(ACVRL1):c.1325T>C (p.Val442Ala) rs2139084277
NM_000020.3(ACVRL1):c.1329T>A (p.Cys443Ter)
NM_000020.3(ACVRL1):c.132delinsCACATTGCAAGGTGCAAGGGTGC (p.Cys46fs)
NM_000020.3(ACVRL1):c.1331_1332dup (p.Asp445fs) rs1565596508
NM_000020.3(ACVRL1):c.1331dup (p.Asp445fs) rs1940908116
NM_000020.3(ACVRL1):c.1336C>T (p.Gln446Ter) rs1064794217
NM_000020.3(ACVRL1):c.1337del (p.Gln446fs)
NM_000020.3(ACVRL1):c.1339C>T (p.Gln447Ter) rs2139084336
NM_000020.3(ACVRL1):c.133_148del (p.Thr45fs)
NM_000020.3(ACVRL1):c.1345C>T (p.Pro449Ser) rs1940908457
NM_000020.3(ACVRL1):c.1346C>T (p.Pro449Leu) rs2139084385
NM_000020.3(ACVRL1):c.1347del (p.Thr450fs) rs1940908396
NM_000020.3(ACVRL1):c.1347dup (p.Thr450fs)
NM_000020.3(ACVRL1):c.1355C>T (p.Pro452Leu) rs1555153848
NM_000020.3(ACVRL1):c.1365_1366delinsC (p.Ala456fs)
NM_000020.3(ACVRL1):c.1377+1G>A rs863223406
NM_000020.3(ACVRL1):c.1377+2T>G rs1555153854
NM_000020.3(ACVRL1):c.1378-1G>A rs1060503237
NM_000020.3(ACVRL1):c.1378-1G>C
NM_000020.3(ACVRL1):c.1378-216C>G rs111710113
NM_000020.3(ACVRL1):c.1378-2A>G rs2139089146
NM_000020.3(ACVRL1):c.1378-69C>A
NM_000020.3(ACVRL1):c.1381dup (p.Leu461fs) rs2139089160
NM_000020.3(ACVRL1):c.1385C>G (p.Ser462Ter) rs1085307422
NM_000020.3(ACVRL1):c.1388del (p.Gly463fs) rs1085307423
NM_000020.3(ACVRL1):c.1390del (p.Gly463_Leu464insTer) rs1085307424
NM_000020.3(ACVRL1):c.1396C>T (p.Gln466Ter)
NM_000020.3(ACVRL1):c.139_140insCG (p.Arg47fs) rs1555152455
NM_000020.3(ACVRL1):c.139dup (p.Arg47fs) rs1940731944
NM_000020.3(ACVRL1):c.1408dup (p.Glu470fs)
NM_000020.3(ACVRL1):c.140G>C (p.Arg47Pro) rs774389618
NM_000020.3(ACVRL1):c.1411T>C (p.Cys471Arg)
NM_000020.3(ACVRL1):c.1411T>G (p.Cys471Gly) rs1940955180
NM_000020.3(ACVRL1):c.1413C>A (p.Cys471Ter) rs1301762186
NM_000020.3(ACVRL1):c.1415G>A (p.Trp472Ter) rs1555154144
NM_000020.3(ACVRL1):c.1416G>A (p.Trp472Ter)
NM_000020.3(ACVRL1):c.1416G>C (p.Trp472Cys) rs1060503243
NM_000020.3(ACVRL1):c.1416G>T (p.Trp472Cys) rs1060503243
NM_000020.3(ACVRL1):c.1419C>A (p.Tyr473Ter) rs1940955656
NM_000020.3(ACVRL1):c.1419C>G (p.Tyr473Ter) rs1940955656
NM_000020.3(ACVRL1):c.1426_1428del (p.Pro476del)
NM_000020.3(ACVRL1):c.1427C>T (p.Pro476Leu) rs1940955941
NM_000020.3(ACVRL1):c.1428del (p.Ser477fs) rs1592228303
NM_000020.3(ACVRL1):c.142G>A (p.Gly48Arg) rs2139064757
NM_000020.3(ACVRL1):c.1432G>C (p.Ala478Pro) rs1295923763
NM_000020.3(ACVRL1):c.1433C>A (p.Ala478Asp) rs1085307425
NM_000020.3(ACVRL1):c.1435C>T (p.Arg479Ter) rs1057517944
NM_000020.3(ACVRL1):c.1436G>C (p.Arg479Pro) rs1085307426
NM_000020.3(ACVRL1):c.1438C>T (p.Leu480Phe)
NM_000020.3(ACVRL1):c.143G>A (p.Gly48Glu) rs267606632
NM_000020.3(ACVRL1):c.143G>T (p.Gly48Val)
NM_000020.3(ACVRL1):c.143_147delinsAGCCT (p.Gly48_Ala49delinsGluPro) rs387906392
NM_000020.3(ACVRL1):c.1442C>T (p.Thr481Ile)
NM_000020.3(ACVRL1):c.1445C>A (p.Ala482Glu)
NM_000020.3(ACVRL1):c.1448del (p.Leu483fs) rs1940958854
NM_000020.3(ACVRL1):c.1450C>G (p.Arg484Gly) rs121909288
NM_000020.3(ACVRL1):c.1450delinsTG (p.Arg484fs) rs1085307427
NM_000020.3(ACVRL1):c.1451G>A (p.Arg484Gln) rs863223408
NM_000020.3(ACVRL1):c.1451G>C (p.Arg484Pro) rs863223408
NM_000020.3(ACVRL1):c.1451G>T (p.Arg484Leu) rs863223408
NM_000020.3(ACVRL1):c.145del (p.Ala49fs) rs863223415
NM_000020.3(ACVRL1):c.145dup (p.Ala49fs) rs863223415
NM_000020.3(ACVRL1):c.1460A>C (p.Lys487Thr) rs1085307428
NM_000020.3(ACVRL1):c.1468C>T (p.Gln490Ter) rs1085307429
NM_000020.3(ACVRL1):c.150G>C (p.Trp50Cys) rs121909285
NM_000020.3(ACVRL1):c.150G>T (p.Trp50Cys) rs121909285
NM_000020.3(ACVRL1):c.152G>A (p.Cys51Tyr) rs863223409
NM_000020.3(ACVRL1):c.154_169del (p.Thr52fs)
NM_000020.3(ACVRL1):c.177_180dup (p.Arg61fs)
NM_000020.3(ACVRL1):c.183del (p.Arg61fs) rs1060503246
NM_000020.3(ACVRL1):c.18dup (p.Arg7fs)
NM_000020.3(ACVRL1):c.190C>T (p.Gln64Ter) rs1592221728
NM_000020.3(ACVRL1):c.190del (p.Gln64fs) rs1060503241
NM_000020.3(ACVRL1):c.191dup (p.Glu65fs)
NM_000020.3(ACVRL1):c.193G>T (p.Glu65Ter) rs1427299751
NM_000020.3(ACVRL1):c.193del (p.Glu65fs) rs2139065161
NM_000020.3(ACVRL1):c.199del (p.Arg67fs)
NM_000020.3(ACVRL1):c.200G>A (p.Arg67Gln) rs863223414
NM_000020.3(ACVRL1):c.200G>C (p.Arg67Pro) rs863223414
NM_000020.3(ACVRL1):c.205T>C (p.Cys69Arg) rs2139065261
NM_000020.3(ACVRL1):c.206G>A (p.Cys69Tyr) rs1318118188
NM_000020.3(ACVRL1):c.206G>T (p.Cys69Phe) rs1318118188
NM_000020.3(ACVRL1):c.207C>A (p.Cys69Ter) rs56080682
NM_000020.3(ACVRL1):c.210_213delinsAAA (p.Leu72fs)
NM_000020.3(ACVRL1):c.223G>T (p.Glu75Ter) rs750720985
NM_000020.3(ACVRL1):c.223del (p.Glu75fs) rs2139065347
NM_000020.3(ACVRL1):c.231C>G (p.Cys77Trp) rs1221689111
NM_000020.3(ACVRL1):c.237del (p.Arg80fs) rs1592221830
NM_000020.3(ACVRL1):c.237dup (p.Arg80fs) rs1592221830
NM_000020.3(ACVRL1):c.239_240insT (p.Thr82fs)
NM_000020.3(ACVRL1):c.259del (p.His87fs) rs1940739463
NM_000020.3(ACVRL1):c.264C>G (p.Tyr88Ter) rs775754117
NM_000020.3(ACVRL1):c.265T>A (p.Cys89Ser)
NM_000020.3(ACVRL1):c.265T>C (p.Cys89Arg) rs1555152520
NM_000020.3(ACVRL1):c.269G>A (p.Cys90Tyr) rs863223410
NM_000020.3(ACVRL1):c.269G>T (p.Cys90Phe) rs863223410
NM_000020.3(ACVRL1):c.270C>A (p.Cys90Ter) rs556168617
NM_000020.3(ACVRL1):c.270C>G (p.Cys90Trp)
NM_000020.3(ACVRL1):c.271del (p.Asp91fs) rs1555152526
NM_000020.3(ACVRL1):c.286A>C (p.Asn96His)
NM_000020.3(ACVRL1):c.286A>G (p.Asn96Asp) rs2139065803
NM_000020.3(ACVRL1):c.289_294del (p.His97_Asn98del)
NM_000020.3(ACVRL1):c.293A>G (p.Asn98Ser) rs1085307406
NM_000020.3(ACVRL1):c.295_299del (p.Val99fs) rs1085307872
NM_000020.3(ACVRL1):c.303_313+2del
NM_000020.3(ACVRL1):c.310G>T (p.Glu104Ter)
NM_000020.3(ACVRL1):c.313+1G>A rs1555152548
NM_000020.3(ACVRL1):c.313+1G>C
NM_000020.3(ACVRL1):c.313+1G>T rs1555152548
NM_000020.3(ACVRL1):c.320_323dup (p.Pro109fs)
NM_000020.3(ACVRL1):c.325_356del (p.Pro109fs)
NM_000020.3(ACVRL1):c.329C>A (p.Ser110Ter) rs143872998
NM_000020.3(ACVRL1):c.334C>T (p.Gln112Ter) rs1592222308
NM_000020.3(ACVRL1):c.336del (p.Gln112fs) rs1940750523
NM_000020.3(ACVRL1):c.352C>T (p.Gln118Ter) rs1940751311
NM_000020.3(ACVRL1):c.353_360dup (p.Leu121fs)
NM_000020.3(ACVRL1):c.361del (p.Ala120_Leu121insTer)
NM_000020.3(ACVRL1):c.362_374del (p.Leu121fs) rs2139067065
NM_000020.3(ACVRL1):c.375del (p.Val126fs) rs1940751760
NM_000020.3(ACVRL1):c.375dup (p.Val126fs) rs1940751760
NM_000020.3(ACVRL1):c.376del (p.Val126fs)
NM_000020.3(ACVRL1):c.377dup (p.Leu127fs) rs2139067187
NM_000020.3(ACVRL1):c.37del (p.Leu13fs) rs1085307404
NM_000020.3(ACVRL1):c.400del (p.Ala134fs)
NM_000020.3(ACVRL1):c.406_409del (p.Gly136fs) rs863223416
NM_000020.3(ACVRL1):c.412_413del (p.Leu138fs) rs2139067412
NM_000020.3(ACVRL1):c.41dup (p.Met15fs) rs1060503236
NM_000020.3(ACVRL1):c.423G>A (p.Trp141Ter)
NM_000020.3(ACVRL1):c.42dup (p.Met15fs)
NM_000020.3(ACVRL1):c.430C>T (p.Arg144Ter) rs758683062
NM_000020.3(ACVRL1):c.430del (p.Arg144fs)
NM_000020.3(ACVRL1):c.433del (p.Arg145fs)
NM_000020.3(ACVRL1):c.435del (p.Arg146fs) rs2139067539
NM_000020.3(ACVRL1):c.439C>T (p.Gln147Ter) rs1555152650
NM_000020.3(ACVRL1):c.474del (p.Glu159fs)
NM_000020.3(ACVRL1):c.475G>T (p.Glu159Ter) rs1940756257
NM_000020.3(ACVRL1):c.500_518del (p.Ser167fs) rs2139067828
NM_000020.3(ACVRL1):c.501del (p.Glu168fs)
NM_000020.3(ACVRL1):c.505C>T (p.Gln169Ter) rs2139067861
NM_000020.3(ACVRL1):c.50dup (p.Leu17fs) rs2139062776
NM_000020.3(ACVRL1):c.510del (p.Asp171fs) rs2139067888
NM_000020.3(ACVRL1):c.514dup (p.Ser172fs) rs1940757414
NM_000020.3(ACVRL1):c.525+1G>A rs1555152710
NM_000020.3(ACVRL1):c.525+1G>C
NM_000020.3(ACVRL1):c.525+1G>T rs1555152710
NM_000020.3(ACVRL1):c.525+1del rs1060503249
NM_000020.3(ACVRL1):c.525+2T>C rs2139067969
NM_000020.3(ACVRL1):c.525+3A>G
NM_000020.3(ACVRL1):c.526-1G>A rs1565593274
NM_000020.3(ACVRL1):c.526-7C>G
NM_000020.3(ACVRL1):c.540_541insA (p.Asp181fs) rs1555152774
NM_000020.3(ACVRL1):c.542_545del (p.Asp181fs) rs1555152771
NM_000020.3(ACVRL1):c.543_544del (p.Asp181fs)
NM_000020.3(ACVRL1):c.546C>A (p.Cys182Ter) rs2139068677
NM_000020.3(ACVRL1):c.562del (p.Ser188fs)
NM_000020.3(ACVRL1):c.573del (p.Phe192fs) rs1555152786
NM_000020.3(ACVRL1):c.583C>T (p.Gln195Ter)
NM_000020.3(ACVRL1):c.586A>G (p.Arg196Gly)
NM_000020.3(ACVRL1):c.58C>T (p.Gln20Ter) rs1555152345
NM_000020.3(ACVRL1):c.590C>T (p.Thr197Ile)
NM_000020.3(ACVRL1):c.593T>A (p.Val198Glu) rs886043123
NM_000020.3(ACVRL1):c.598C>G (p.Arg200Gly) rs999380946
NM_000020.3(ACVRL1):c.601C>T (p.Gln201Ter) rs1318446539
NM_000020.3(ACVRL1):c.602A>G (p.Gln201Arg) rs1085307407
NM_000020.3(ACVRL1):c.619T>G (p.Cys207Gly)
NM_000020.3(ACVRL1):c.620del (p.Cys207fs)
NM_000020.3(ACVRL1):c.621T>A (p.Cys207Ter) rs1940766819
NM_000020.3(ACVRL1):c.623_624del (p.Val208fs) rs1060503240
NM_000020.3(ACVRL1):c.625+1G>A
NM_000020.3(ACVRL1):c.625+1G>T rs1940767034
NM_000020.3(ACVRL1):c.625+1del rs1555152815
NM_000020.3(ACVRL1):c.625+2T>C rs1592223028
NM_000020.3(ACVRL1):c.626-1G>A rs2139070294
NM_000020.3(ACVRL1):c.626-2A>G rs1940780382
NM_000020.3(ACVRL1):c.626-3C>G rs1555152899
NM_000020.3(ACVRL1):c.631G>A (p.Gly211Ser)
NM_000020.3(ACVRL1):c.631G>T (p.Gly211Cys) rs1940780439
NM_000020.3(ACVRL1):c.632G>A (p.Gly211Asp) rs28936687
NM_000020.3(ACVRL1):c.639T>A (p.Tyr213Ter)
NM_000020.3(ACVRL1):c.639T>G (p.Tyr213Ter) rs962224649
NM_000020.3(ACVRL1):c.641del (p.Gly214fs) rs1555152909
NM_000020.3(ACVRL1):c.643G>A (p.Glu215Lys) rs754283265
NM_000020.3(ACVRL1):c.643G>T (p.Glu215Ter)
NM_000020.3(ACVRL1):c.649T>G (p.Trp217Gly)
NM_000020.3(ACVRL1):c.651G>A (p.Trp217Ter) rs1592223399
NM_000020.3(ACVRL1):c.651del (p.Trp217fs)
NM_000020.3(ACVRL1):c.653_654inv (p.Arg218Pro)
NM_000020.3(ACVRL1):c.655G>C (p.Gly219Arg) rs1592223416
NM_000020.3(ACVRL1):c.656del (p.Gly219fs)
NM_000020.3(ACVRL1):c.65del (p.Asp22fs)
NM_000020.3(ACVRL1):c.663G>A (p.Trp221Ter) rs2139070482
NM_000020.3(ACVRL1):c.663del (p.Trp221fs)
NM_000020.3(ACVRL1):c.670G>A (p.Glu224Lys)
NM_000020.3(ACVRL1):c.670G>T (p.Glu224Ter)
NM_000020.3(ACVRL1):c.673_674del (p.Ser225fs) rs1940782251
NM_000020.3(ACVRL1):c.673del (p.Ser225fs)
NM_000020.3(ACVRL1):c.677T>A (p.Val226Glu) rs1565593639
NM_000020.3(ACVRL1):c.685A>G (p.Lys229Glu) rs1592223468
NM_000020.3(ACVRL1):c.68del (p.Pro23fs) rs2139064139
NM_000020.3(ACVRL1):c.693CTC[1] (p.Ser233del) rs387906391
NM_000020.3(ACVRL1):c.698C>G (p.Ser233Trp) rs762773076
NM_000020.3(ACVRL1):c.698C>T (p.Ser233Leu) rs762773076
NM_000020.3(ACVRL1):c.698_699dup (p.Asp235fs) rs2139070714
NM_000020.3(ACVRL1):c.703del (p.Asp235fs)
NM_000020.3(ACVRL1):c.706G>A (p.Glu236Lys) rs1592223490
NM_000020.3(ACVRL1):c.711_713delinsAG (p.Ser238fs) rs1555152935
NM_000020.3(ACVRL1):c.714del (p.Trp239fs) rs1940783683
NM_000020.3(ACVRL1):c.716G>A (p.Trp239Ter)
NM_000020.3(ACVRL1):c.717G>A (p.Trp239Ter)
NM_000020.3(ACVRL1):c.71_93del (p.Val24fs)
NM_000020.3(ACVRL1):c.724G>T (p.Glu242Ter) rs1940784067
NM_000020.3(ACVRL1):c.726del (p.Thr243fs)
NM_000020.3(ACVRL1):c.72_79del (p.Lys25fs) rs1592221459
NM_000020.3(ACVRL1):c.738dup (p.Asn247Ter)
NM_000020.3(ACVRL1):c.73A>T (p.Lys25Ter)
NM_000020.3(ACVRL1):c.743_744del (p.Thr248fs) rs1555152955
NM_000020.3(ACVRL1):c.74_77delinsGCTGCTGAGCTCAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGG (p.Lys25_Pro26delinsSerCysTer)
NM_000020.3(ACVRL1):c.760_762del (p.Asp254del) rs387906393
NM_000020.3(ACVRL1):c.766del (p.Ile256fs)
NM_000020.3(ACVRL1):c.772+1G>C rs1940785759
NM_000020.3(ACVRL1):c.772+5G>A
NM_000020.3(ACVRL1):c.772G>A (p.Gly258Ser) rs1555152966
NM_000020.3(ACVRL1):c.773-2A>C
NM_000020.3(ACVRL1):c.787G>A (p.Asp263Asn) rs2139072643
NM_000020.3(ACVRL1):c.788A>G (p.Asp263Gly) rs1085307408
NM_000020.3(ACVRL1):c.789del (p.Asp263fs)
NM_000020.3(ACVRL1):c.78_81del (p.Ser27fs) rs2139064218
NM_000020.3(ACVRL1):c.806C>A (p.Ser269Ter)
NM_000020.3(ACVRL1):c.807_810del (p.Ser270fs) rs2139072772
NM_000020.3(ACVRL1):c.808_820dup (p.Trp274Ter) rs1555153077
NM_000020.3(ACVRL1):c.818T>C (p.Leu273Pro) rs1085307409
NM_000020.3(ACVRL1):c.821G>A (p.Trp274Ter)
NM_000020.3(ACVRL1):c.822G>A (p.Trp274Ter) rs757645341
NM_000020.3(ACVRL1):c.830C>A (p.Thr277Lys) rs750085854
NM_000020.3(ACVRL1):c.830C>G (p.Thr277Arg) rs750085854
NM_000020.3(ACVRL1):c.838_842del (p.His280fs)
NM_000020.3(ACVRL1):c.841G>T (p.Glu281Ter) rs779485996
NM_000020.3(ACVRL1):c.847_853delinsTT (p.Gly283fs) rs1940804402
NM_000020.3(ACVRL1):c.851_905del (p.Gly283_Ser284insTer)
NM_000020.3(ACVRL1):c.853C>T (p.Leu285Phe) rs1085307410
NM_000020.3(ACVRL1):c.854T>C (p.Leu285Pro) rs1085307411
NM_000020.3(ACVRL1):c.858C>A (p.Tyr286Ter) rs542810348
NM_000020.3(ACVRL1):c.858_859insA (p.Asp287fs)
NM_000020.3(ACVRL1):c.864dup (p.Leu289fs)
NM_000020.3(ACVRL1):c.866T>C (p.Leu289Pro)
NM_000020.3(ACVRL1):c.868C>T (p.Gln290Ter) rs2139073064
NM_000020.3(ACVRL1):c.86del (p.Gly29fs) rs1940729491
NM_000020.3(ACVRL1):c.870del (p.Arg291fs) rs1565594157
NM_000020.3(ACVRL1):c.871A>T (p.Arg291Ter) rs1057256890
NM_000020.3(ACVRL1):c.872_873del (p.Arg291fs) rs1592224087
NM_000020.3(ACVRL1):c.874C>T (p.Gln292Ter) rs1940805354
NM_000020.3(ACVRL1):c.877del (p.Thr293fs)
NM_000020.3(ACVRL1):c.880del (p.Leu294fs)
NM_000020.3(ACVRL1):c.881T>G (p.Leu294Arg) rs2139073155
NM_000020.3(ACVRL1):c.889del (p.His297fs) rs1060503245
NM_000020.3(ACVRL1):c.900del (p.Arg301fs)
NM_000020.3(ACVRL1):c.905T>G (p.Leu302Arg)
NM_000020.3(ACVRL1):c.913T>C (p.Ser305Pro) rs1565594238
NM_000020.3(ACVRL1):c.913_916del (p.Ser305fs)
NM_000020.3(ACVRL1):c.914C>T (p.Ser305Phe) rs1555153126
NM_000020.3(ACVRL1):c.919del (p.Ala307fs)
NM_000020.3(ACVRL1):c.924C>A (p.Cys308Ter) rs1555153131
NM_000020.3(ACVRL1):c.925G>A (p.Gly309Ser) rs1555153133
NM_000020.3(ACVRL1):c.925G>C (p.Gly309Arg) rs1555153133
NM_000020.3(ACVRL1):c.926G>A (p.Gly309Asp)
NM_000020.3(ACVRL1):c.929_932del (p.Leu310fs) rs1940808154
NM_000020.3(ACVRL1):c.931dup (p.Ala311fs) rs2139073551
NM_000020.3(ACVRL1):c.936C>G (p.His312Gln) rs1085307412
NM_000020.3(ACVRL1):c.937C>G (p.Leu313Val)
NM_000020.3(ACVRL1):c.938T>G (p.Leu313Arg)
NM_000020.3(ACVRL1):c.940C>T (p.His314Tyr) rs1565594311
NM_000020.3(ACVRL1):c.950T>C (p.Ile317Thr) rs1085307413
NM_000020.3(ACVRL1):c.951_952del (p.Phe318fs)
NM_000020.3(ACVRL1):c.955G>C (p.Gly319Arg) rs1085307414
NM_000020.3(ACVRL1):c.961C>T (p.Gln321Ter) rs2139073732
NM_000020.3(ACVRL1):c.962_963del (p.Gln321fs)
NM_000020.3(ACVRL1):c.967A>G (p.Lys323Glu)
NM_000020.3(ACVRL1):c.971_972insGCGACAAG (p.Ala325fs)
NM_000020.3(ACVRL1):c.979G>C (p.Ala327Pro) rs1940810597
NM_000020.3(ACVRL1):c.980C>A (p.Ala327Asp) rs769850351
NM_000020.3(ACVRL1):c.982C>T (p.His328Tyr) rs1592224291
NM_000020.3(ACVRL1):c.983A>C (p.His328Pro) rs2139073840
NM_000020.3(ACVRL1):c.986G>A (p.Arg329His) rs863223412
NM_000020.3(ACVRL1):c.988G>T (p.Asp330Tyr)
NM_000020.3(ACVRL1):c.988_994dup (p.Lys332fs)
NM_000020.3(ACVRL1):c.990C>G (p.Asp330Glu)
NM_000020.3(ACVRL1):c.992T>C (p.Phe331Ser) rs1166311240
NM_000020.3(ACVRL1):c.998G>T (p.Ser333Ile) rs863223413
NM_000020.3(ACVRL1):c.999C>A (p.Ser333Arg)

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