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
|
NC_000012.11:g.(?_52306239)_(52314697_?)del
|
|
|
NC_000012.11:g.(?_52306259)_(52307877_?)del
|
|
|
NC_000012.11:g.(?_52306863)_(52310037_?)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.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.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.1032T>A (p.Cys344Ter)
|
rs368437392
|
|
NM_000020.3(ACVRL1):c.1035C>A (p.Cys345Ter)
|
|
|
NM_000020.3(ACVRL1):c.1036_1040del (p.Ile346fs)
|
rs1565594524
|
|
NM_000020.3(ACVRL1):c.1041del (p.Asp348fs)
|
rs1940813766
|
|
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+2T>C
|
|
|
NM_000020.3(ACVRL1):c.1048G>C (p.Gly350Arg)
|
rs1565594547
|
|
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.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.1124A>G (p.Tyr375Cys)
|
rs1085307416
|
|
NM_000020.3(ACVRL1):c.1126A>G (p.Met376Val)
|
rs1555153277
|
|
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.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.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>G (p.Trp399Gly)
|
rs1085307418
|
|
NM_000020.3(ACVRL1):c.1196G>A (p.Trp399Ter)
|
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>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.121T>G (p.Cys41Gly)
|
rs2139064528
|
|
NM_000020.3(ACVRL1):c.1221G>T (p.Glu407Asp)
|
rs1565595129
|
|
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+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.1271C>G (p.Pro424Arg)
|
rs1940906429
|
|
NM_000020.3(ACVRL1):c.1275C>G (p.Phe425Leu)
|
|
|
NM_000020.3(ACVRL1):c.1277A>G (p.Tyr426Cys)
|
rs771606504
|
|
NM_000020.3(ACVRL1):c.1297C>T (p.Pro433Ser)
|
rs2139084154
|
|
NM_000020.3(ACVRL1):c.129dup (p.Pro44fs)
|
rs1940731395
|
|
NM_000020.3(ACVRL1):c.130_143del (p.Pro44fs)
|
rs2139064592
|
|
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.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.1339C>T (p.Gln447Ter)
|
rs2139084336
|
|
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.1377+1G>A
|
rs863223406
|
|
NM_000020.3(ACVRL1):c.1377+2T>G
|
rs1555153854
|
|
NM_000020.3(ACVRL1):c.1378-216C>G
|
rs111710113
|
|
NM_000020.3(ACVRL1):c.1378-2A>G
|
rs2139089146
|
|
NM_000020.3(ACVRL1):c.1381dup (p.Leu461fs)
|
rs2139089160
|
|
NM_000020.3(ACVRL1):c.1385C>G (p.Ser462Ter)
|
rs1085307422
|
|
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.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.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.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.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.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.183del (p.Arg61fs)
|
rs1060503246
|
|
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.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.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.259del (p.His87fs)
|
rs1940739463
|
|
NM_000020.3(ACVRL1):c.264C>G (p.Tyr88Ter)
|
rs775754117
|
|
NM_000020.3(ACVRL1):c.270C>A (p.Cys90Ter)
|
rs556168617
|
|
NM_000020.3(ACVRL1):c.286A>C (p.Asn96His)
|
|
|
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.303_313+2del
|
|
|
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.329C>A (p.Ser110Ter)
|
rs143872998
|
|
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.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.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.430C>T (p.Arg144Ter)
|
rs758683062
|
|
NM_000020.3(ACVRL1):c.430del (p.Arg144fs)
|
|
|
NM_000020.3(ACVRL1):c.435del (p.Arg146fs)
|
rs2139067539
|
|
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.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.540_541insA (p.Asp181fs)
|
rs1555152774
|
|
NM_000020.3(ACVRL1):c.542_545del (p.Asp181fs)
|
rs1555152771
|
|
NM_000020.3(ACVRL1):c.546C>A (p.Cys182Ter)
|
rs2139068677
|
|
NM_000020.3(ACVRL1):c.573del (p.Phe192fs)
|
rs1555152786
|
|
NM_000020.3(ACVRL1):c.583C>T (p.Gln195Ter)
|
|
|
NM_000020.3(ACVRL1):c.58C>T (p.Gln20Ter)
|
rs1555152345
|
|
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.619T>G (p.Cys207Gly)
|
|
|
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.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.641del (p.Gly214fs)
|
rs1555152909
|
|
NM_000020.3(ACVRL1):c.651G>A (p.Trp217Ter)
|
rs1592223399
|
|
NM_000020.3(ACVRL1):c.651del (p.Trp217fs)
|
|
|
NM_000020.3(ACVRL1):c.655G>C (p.Gly219Arg)
|
rs1592223416
|
|
NM_000020.3(ACVRL1):c.663G>A (p.Trp221Ter)
|
rs2139070482
|
|
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.724G>T (p.Glu242Ter)
|
rs1940784067
|
|
NM_000020.3(ACVRL1):c.72_79del (p.Lys25fs)
|
rs1592221459
|
|
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.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.787G>A (p.Asp263Asn)
|
rs2139072643
|
|
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.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.858C>A (p.Tyr286Ter)
|
rs542810348
|
|
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.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.881T>G (p.Leu294Arg)
|
rs2139073155
|
|
NM_000020.3(ACVRL1):c.889del (p.His297fs)
|
rs1060503245
|
|
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.929_932del (p.Leu310fs)
|
rs1940808154
|
|
NM_000020.3(ACVRL1):c.931dup (p.Ala311fs)
|
rs2139073551
|
|
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.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.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.990C>G (p.Asp330Glu)
|
|
|
NM_000020.3(ACVRL1):c.992T>C (p.Phe331Ser)
|
rs1166311240
|
|
NM_000020.3(ACVRL1):c.998G>T (p.Ser333Ile)
|
rs863223413
|
|