NM_000020.3(ACVRL1):c.-5-468C>T
|
rs1700159
|
0.79646
|
NM_000020.3(ACVRL1):c.314-35A>G
|
rs2071219
|
0.46706
|
NM_000020.3(ACVRL1):c.1378-248T>G
|
rs2656315
|
0.32172
|
NM_000020.3(ACVRL1):c.1377+297T>A
|
rs1150051
|
0.32017
|
NM_000020.3(ACVRL1):c.-5-465A>G
|
rs1690215
|
0.31904
|
NM_000020.3(ACVRL1):c.1378-405A>G
|
rs813471
|
0.31751
|
NM_000020.3(ACVRL1):c.1377+45T>C
|
rs706815
|
0.31560
|
NM_000020.3(ACVRL1):c.1377+65A>G
|
rs706816
|
0.31557
|
NM_000020.3(ACVRL1):c.-5-227C>G
|
rs2277381
|
0.08706
|
NM_000020.3(ACVRL1):c.1378-155T>G
|
rs2277383
|
0.08548
|
NM_000020.3(ACVRL1):c.625+164T>C
|
rs77709482
|
0.07925
|
NM_000020.3(ACVRL1):c.772+305T>A
|
rs150466281
|
0.07906
|
NM_000020.3(ACVRL1):c.1378-339T>G
|
rs74094826
|
0.05144
|
NM_000020.3(ACVRL1):c.1377+326G>T
|
rs11609817
|
0.04840
|
NM_000020.3(ACVRL1):c.1378-217A>G
|
rs772003
|
0.04704
|
NM_000020.3(ACVRL1):c.61+22A>G
|
rs706812
|
0.03730
|
NM_000020.3(ACVRL1):c.1247-195C>T
|
rs118190956
|
0.02531
|
NM_000020.3(ACVRL1):c.1247-230T>C
|
rs113586490
|
0.02223
|
NM_000020.3(ACVRL1):c.626-53C>T
|
rs111245531
|
0.02158
|
NM_000020.3(ACVRL1):c.1378-30T>C
|
rs142910573
|
0.02009
|
NM_000020.3(ACVRL1):c.*58G>A
|
rs182368657
|
0.01817
|
NM_000020.3(ACVRL1):c.314-65G>C
|
rs113559681
|
0.01773
|
NM_000020.3(ACVRL1):c.1378-216C>T
|
rs111710113
|
0.01212
|
NM_000020.3(ACVRL1):c.1131A>G (p.Ala377=)
|
rs61734313
|
0.00959
|
NM_000020.3(ACVRL1):c.62-69G>T
|
rs114852790
|
0.00802
|
NM_000020.3(ACVRL1):c.625+146C>T
|
rs116471331
|
0.00696
|
NM_000020.3(ACVRL1):c.772+24C>T
|
rs151169686
|
0.00421
|
NM_000020.3(ACVRL1):c.-52G>A
|
rs573048639
|
0.00390
|
NM_000020.3(ACVRL1):c.314-100G>A
|
rs543716448
|
0.00390
|
NM_000020.3(ACVRL1):c.*2281G>T
|
rs114323941
|
0.00374
|
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val)
|
rs139142865
|
0.00203
|
NM_000020.3(ACVRL1):c.484C>T (p.Leu162Phe)
|
rs76038779
|
0.00088
|
NM_000020.3(ACVRL1):c.*2277A>T
|
rs529631289
|
0.00069
|
NM_000020.3(ACVRL1):c.207C>T (p.Cys69=)
|
rs56080682
|
0.00063
|
NM_000020.3(ACVRL1):c.666C>T (p.His222=)
|
rs377194545
|
0.00034
|
NM_000020.3(ACVRL1):c.1122G>T (p.Arg374=)
|
rs187902433
|
0.00024
|
NM_000020.3(ACVRL1):c.465C>T (p.Ser155=)
|
rs143735377
|
0.00013
|
NM_000020.3(ACVRL1):c.917C>T (p.Ala306Val)
|
rs150038846
|
0.00013
|
NM_000020.3(ACVRL1):c.890A>G (p.His297Arg)
|
rs139380315
|
0.00011
|
NM_000020.3(ACVRL1):c.9G>A (p.Leu3=)
|
rs779236098
|
0.00009
|
NM_000020.3(ACVRL1):c.1360C>T (p.Arg454Trp)
|
rs373133784
|
0.00006
|
NM_000020.3(ACVRL1):c.376G>A (p.Val126Met)
|
rs369146413
|
0.00006
|
NM_000020.3(ACVRL1):c.682G>A (p.Val228Ile)
|
rs138048445
|
0.00006
|
NM_000020.3(ACVRL1):c.759C>T (p.His253=)
|
rs374020751
|
0.00006
|
NM_000020.3(ACVRL1):c.82C>T (p.Arg28Trp)
|
rs761650726
|
0.00004
|
NM_000020.3(ACVRL1):c.196C>T (p.His66Tyr)
|
rs1480110873
|
0.00002
|
NM_000020.3(ACVRL1):c.208G>A (p.Gly70Arg)
|
rs1439294840
|
0.00002
|
NM_000020.3(ACVRL1):c.511G>A (p.Asp171Asn)
|
rs369436815
|
0.00002
|
NM_000020.3(ACVRL1):c.-4G>T
|
rs753902476
|
0.00001
|
NM_000020.3(ACVRL1):c.1103C>T (p.Pro368Leu)
|
rs748123979
|
0.00001
|
NM_000020.3(ACVRL1):c.1118A>G (p.Lys373Arg)
|
rs1324917279
|
0.00001
|
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.139C>T (p.Arg47Trp)
|
rs768072967
|
0.00001
|
NM_000020.3(ACVRL1):c.1436G>A (p.Arg479Gln)
|
rs1085307426
|
0.00001
|
NM_000020.3(ACVRL1):c.1446G>A (p.Ala482=)
|
rs142343727
|
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.236G>A (p.Gly79Glu)
|
rs1283365095
|
0.00001
|
NM_000020.3(ACVRL1):c.238C>T (p.Arg80Cys)
|
rs756447582
|
0.00001
|
NM_000020.3(ACVRL1):c.253G>A (p.Val85Ile)
|
rs373779426
|
0.00001
|
NM_000020.3(ACVRL1):c.303G>A (p.Leu101=)
|
rs376417482
|
0.00001
|
NM_000020.3(ACVRL1):c.598C>T (p.Arg200Trp)
|
rs999380946
|
0.00001
|
NM_000020.3(ACVRL1):c.599G>A (p.Arg200Gln)
|
rs1018788708
|
0.00001
|
NM_000020.3(ACVRL1):c.87C>T (p.Gly29=)
|
rs139486404
|
0.00001
|
NM_000020.3(ACVRL1):c.916del (p.Ala306fs)
|
rs1064796070
|
0.00001
|
NC_000012.11:g.52308281_52308282insAlu
|
|
|
NM_000020.3(ACVRL1):c.-5-17C>T
|
|
|
NM_000020.3(ACVRL1):c.1003A>C (p.Asn335His)
|
rs2139073985
|
|
NM_000020.3(ACVRL1):c.1027C>T (p.Gln343Ter)
|
rs1064796530
|
|
NM_000020.3(ACVRL1):c.1031G>A (p.Cys344Tyr)
|
rs28936688
|
|
NM_000020.3(ACVRL1):c.1031_1032dup (p.Cys345fs)
|
rs863223417
|
|
NM_000020.3(ACVRL1):c.1034G>A (p.Cys345Tyr)
|
rs1592224431
|
|
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>G
|
rs1555153172
|
|
NM_000020.3(ACVRL1):c.1049-1G>A
|
rs1060503242
|
|
NM_000020.3(ACVRL1):c.1049G>T (p.Gly350Val)
|
|
|
NM_000020.3(ACVRL1):c.1073del (p.Gly358fs)
|
rs2139075930
|
|
NM_000020.3(ACVRL1):c.1089C>T (p.Asp363=)
|
rs1225049658
|
|
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.1126A>G (p.Met376Val)
|
rs1555153277
|
|
NM_000020.3(ACVRL1):c.1144del (p.Asp382fs)
|
rs1565595009
|
|
NM_000020.3(ACVRL1):c.1198G>A (p.Ala400Thr)
|
|
|
NM_000020.3(ACVRL1):c.1214T>C (p.Leu405Pro)
|
|
|
NM_000020.3(ACVRL1):c.1219G>A (p.Glu407Lys)
|
rs1057521203
|
|
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.1246G>A (p.Gly416Ser)
|
rs1592225112
|
|
NM_000020.3(ACVRL1):c.1251C>T (p.Ile417=)
|
|
|
NM_000020.3(ACVRL1):c.1276T>A (p.Tyr426Asn)
|
rs1565596460
|
|
NM_000020.3(ACVRL1):c.1285G>T (p.Val429Leu)
|
rs1131691286
|
|
NM_000020.3(ACVRL1):c.1321G>A (p.Val441Met)
|
rs1565596498
|
|
NM_000020.3(ACVRL1):c.1324G>A (p.Val442Met)
|
rs1085307421
|
|
NM_000020.3(ACVRL1):c.1336C>T (p.Gln446Ter)
|
rs1064794217
|
|
NM_000020.3(ACVRL1):c.1346C>T (p.Pro449Leu)
|
rs2139084385
|
|
NM_000020.3(ACVRL1):c.1347dup (p.Thr450fs)
|
|
|
NM_000020.3(ACVRL1):c.1377+1G>A
|
rs863223406
|
|
NM_000020.3(ACVRL1):c.1377+249TG[18]
|
rs55945390
|
|
NM_000020.3(ACVRL1):c.1377+249TG[19]
|
rs55945390
|
|
NM_000020.3(ACVRL1):c.1377+249TG[21]
|
rs55945390
|
|
NM_000020.3(ACVRL1):c.1377+249TG[22]
|
rs55945390
|
|
NM_000020.3(ACVRL1):c.1377+249TG[23]
|
rs55945390
|
|
NM_000020.3(ACVRL1):c.1378-248del
|
rs202089535
|
|
NM_000020.3(ACVRL1):c.1385C>G (p.Ser462Ter)
|
rs1085307422
|
|
NM_000020.3(ACVRL1):c.139_140insCG (p.Arg47fs)
|
rs1555152455
|
|
NM_000020.3(ACVRL1):c.1406_1413dup (p.Trp472fs)
|
rs1057519168
|
|
NM_000020.3(ACVRL1):c.140G>A (p.Arg47Gln)
|
|
|
NM_000020.3(ACVRL1):c.140G>C (p.Arg47Pro)
|
rs774389618
|
|
NM_000020.3(ACVRL1):c.1415G>A (p.Trp472Ter)
|
rs1555154144
|
|
NM_000020.3(ACVRL1):c.1416G>C (p.Trp472Cys)
|
rs1060503243
|
|
NM_000020.3(ACVRL1):c.1435C>T (p.Arg479Ter)
|
rs1057517944
|
|
NM_000020.3(ACVRL1):c.1451G>A (p.Arg484Gln)
|
rs863223408
|
|
NM_000020.3(ACVRL1):c.1457AGA[1] (p.Lys487del)
|
rs1940959480
|
|
NM_000020.3(ACVRL1):c.145dup (p.Ala49fs)
|
rs863223415
|
|
NM_000020.3(ACVRL1):c.1466T>C (p.Leu489Pro)
|
rs1057523573
|
|
NM_000020.3(ACVRL1):c.1468C>T (p.Gln490Ter)
|
rs1085307429
|
|
NM_000020.3(ACVRL1):c.1507C>T (p.Gln503Ter)
|
rs1565597552
|
|
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.154A>G (p.Thr52Ala)
|
rs1131691346
|
|
NM_000020.3(ACVRL1):c.158T>C (p.Val53Ala)
|
|
|
NM_000020.3(ACVRL1):c.199C>G (p.Arg67Gly)
|
rs1085307405
|
|
NM_000020.3(ACVRL1):c.200G>A (p.Arg67Gln)
|
rs863223414
|
|
NM_000020.3(ACVRL1):c.206G>T (p.Cys69Phe)
|
rs1318118188
|
|
NM_000020.3(ACVRL1):c.225G>C (p.Glu75Asp)
|
rs1940737426
|
|
NM_000020.3(ACVRL1):c.239_240insT (p.Thr82fs)
|
|
|
NM_000020.3(ACVRL1):c.259C>G (p.His87Asp)
|
rs1430932447
|
|
NM_000020.3(ACVRL1):c.264C>G (p.Tyr88Ter)
|
rs775754117
|
|
NM_000020.3(ACVRL1):c.266G>T (p.Cys89Phe)
|
rs1060503234
|
|
NM_000020.3(ACVRL1):c.269G>A (p.Cys90Tyr)
|
rs863223410
|
|
NM_000020.3(ACVRL1):c.295_299del (p.Val99fs)
|
rs1085307872
|
|
NM_000020.3(ACVRL1):c.302del (p.Leu101fs)
|
rs1064794791
|
|
NM_000020.3(ACVRL1):c.400G>A (p.Ala134Thr)
|
rs886653596
|
|
NM_000020.3(ACVRL1):c.406_409del (p.Gly136fs)
|
rs863223416
|
|
NM_000020.3(ACVRL1):c.430C>T (p.Arg144Ter)
|
rs758683062
|
|
NM_000020.3(ACVRL1):c.439C>T (p.Gln147Ter)
|
rs1555152650
|
|
NM_000020.3(ACVRL1):c.466G>A (p.Glu156Lys)
|
|
|
NM_000020.3(ACVRL1):c.525+2T>C
|
rs2139067969
|
|
NM_000020.3(ACVRL1):c.526-4C>T
|
|
|
NM_000020.3(ACVRL1):c.526-6C>G
|
rs1438077609
|
|
NM_000020.3(ACVRL1):c.540_541insA (p.Asp181fs)
|
rs1555152774
|
|
NM_000020.3(ACVRL1):c.543_544del (p.Asp181fs)
|
|
|
NM_000020.3(ACVRL1):c.546C>A (p.Cys182Ter)
|
rs2139068677
|
|
NM_000020.3(ACVRL1):c.548C>A (p.Thr183Asn)
|
|
|
NM_000020.3(ACVRL1):c.578T>C (p.Leu193Pro)
|
rs1555152790
|
|
NM_000020.3(ACVRL1):c.590C>A (p.Thr197Lys)
|
rs1555152796
|
|
NM_000020.3(ACVRL1):c.593T>C (p.Val198Ala)
|
rs886043123
|
|
NM_000020.3(ACVRL1):c.601C>T (p.Gln201Ter)
|
rs1318446539
|
|
NM_000020.3(ACVRL1):c.61+1G>T
|
|
|
NM_000020.3(ACVRL1):c.62-196C>G
|
rs35960167
|
|
NM_000020.3(ACVRL1):c.625+110_625+130del
|
rs67833112
|
|
NM_000020.3(ACVRL1):c.626-3C>G
|
rs1555152899
|
|
NM_000020.3(ACVRL1):c.626-59G>T
|
rs537246355
|
|
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.677T>A (p.Val226Glu)
|
rs1565593639
|
|
NM_000020.3(ACVRL1):c.693CTC[1] (p.Ser233del)
|
rs387906391
|
|
NM_000020.3(ACVRL1):c.698C>T (p.Ser233Leu)
|
rs762773076
|
|
NM_000020.3(ACVRL1):c.706G>A (p.Glu236Lys)
|
rs1592223490
|
|
NM_000020.3(ACVRL1):c.760_762del (p.Asp254del)
|
rs387906393
|
|
NM_000020.3(ACVRL1):c.772+132TTTAA[10]
|
rs55800652
|
|
NM_000020.3(ACVRL1):c.772+132TTTAA[11]
|
rs55800652
|
|
NM_000020.3(ACVRL1):c.772+132TTTAA[8]
|
rs55800652
|
|
NM_000020.3(ACVRL1):c.772+1G>C
|
rs1940785759
|
|
NM_000020.3(ACVRL1):c.773-292G>A
|
rs117087866
|
|
NM_000020.3(ACVRL1):c.822G>T (p.Trp274Cys)
|
rs757645341
|
|
NM_000020.3(ACVRL1):c.830C>A (p.Thr277Lys)
|
rs750085854
|
|
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.851C>T (p.Ser284Phe)
|
rs768643771
|
|
NM_000020.3(ACVRL1):c.86del (p.Gly29fs)
|
rs1940729491
|
|
NM_000020.3(ACVRL1):c.870del (p.Arg291fs)
|
rs1565594157
|
|
NM_000020.3(ACVRL1):c.880del (p.Leu294fs)
|
|
|
NM_000020.3(ACVRL1):c.905T>C (p.Leu302Pro)
|
rs1565594217
|
|
NM_000020.3(ACVRL1):c.905T>G (p.Leu302Arg)
|
|
|
NM_000020.3(ACVRL1):c.907G>C (p.Ala303Pro)
|
rs1565594220
|
|
NM_000020.3(ACVRL1):c.913T>C (p.Ser305Pro)
|
rs1565594238
|
|
NM_000020.3(ACVRL1):c.916_917delinsAA (p.Ala306Lys)
|
rs1060503244
|
|
NM_000020.3(ACVRL1):c.920C>A (p.Ala307Glu)
|
rs863223411
|
|
NM_000020.3(ACVRL1):c.924C>A (p.Cys308Ter)
|
rs1555153131
|
|
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.978T>C (p.Ile326=)
|
rs746827105
|
|
NM_000020.3(ACVRL1):c.979G>C (p.Ala327Pro)
|
rs1940810597
|
|
NM_000020.3(ACVRL1):c.982C>G (p.His328Asp)
|
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.998G>T (p.Ser333Ile)
|
rs863223413
|
|