ClinVar Miner

List of variants in gene BMPR1A reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 451
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HGVS dbSNP
NC_000010.10:g.(?_88514773)_(88516676_?)del
NC_000010.10:g.(?_88514773)_(88516802_?)del
NC_000010.10:g.(?_88514773)_(88683486_?)del
NC_000010.10:g.(?_88514773)_(88683486_?)dup
NC_000010.10:g.(?_88598622)_(88659883_?)del
NC_000010.10:g.(?_88598623)_(88603267_?)del
NC_000010.10:g.(?_88598623)_(88649987_?)dup
NC_000010.10:g.(?_88598623)_(88683482_?)dup
NC_000010.10:g.(?_88598623)_(88683486_?)dup
NC_000010.10:g.(?_88635766)_(88635852_?)del
NC_000010.10:g.(?_88635766)_(88683486_?)del
NC_000010.10:g.(?_88659541)_(88683486_?)dup
NC_000010.10:g.(?_88671987)_(88677093_?)del
NM_004329.2(BMPR1A):c.-152-?_*1469del
NM_004329.2(BMPR1A):c.-152-?_333+?dup
NM_004329.2(BMPR1A):c.-1_2del (p.Met1del)
NM_004329.2(BMPR1A):c.-548_-268del rs1564673999
NM_004329.2(BMPR1A):c.1000T>A (p.Leu334Met)
NM_004329.2(BMPR1A):c.1000T>C (p.Leu334=) rs749873461
NM_004329.2(BMPR1A):c.1009T>G (p.Ser337Ala)
NM_004329.2(BMPR1A):c.100G>A (p.Gly34Arg)
NM_004329.2(BMPR1A):c.1017C>G (p.Ala339=) rs780130011
NM_004329.2(BMPR1A):c.1022G>A (p.Gly341Asp) rs1564724250
NM_004329.2(BMPR1A):c.1026G>T (p.Leu342=) rs768598838
NM_004329.2(BMPR1A):c.102G>A (p.Gly34=) rs876659958
NM_004329.2(BMPR1A):c.1042G>C (p.Glu348Gln) rs1060503398
NM_004329.2(BMPR1A):c.1044A>G (p.Glu348=) rs781082609
NM_004329.2(BMPR1A):c.1044A>T (p.Glu348Asp) rs781082609
NM_004329.2(BMPR1A):c.1048T>C (p.Tyr350His) rs749571434
NM_004329.2(BMPR1A):c.1049A>T (p.Tyr350Phe)
NM_004329.2(BMPR1A):c.1053C>T (p.Gly351=) rs1554891081
NM_004329.2(BMPR1A):c.1058A>G (p.Gln353Arg) rs1405441693
NM_004329.2(BMPR1A):c.1059A>G (p.Gln353=) rs1060503407
NM_004329.2(BMPR1A):c.1068C>T (p.Pro356=) rs759520915
NM_004329.2(BMPR1A):c.1069G>A (p.Ala357Thr) rs201509164
NM_004329.2(BMPR1A):c.1077T>C (p.Ala359=) rs761131818
NM_004329.2(BMPR1A):c.1081C>T (p.Arg361Ter) rs764466442
NM_004329.2(BMPR1A):c.1082G>A (p.Arg361Gln) rs730881436
NM_004329.2(BMPR1A):c.1084G>A (p.Asp362Asn) rs1564724297
NM_004329.2(BMPR1A):c.1089A>G (p.Leu363=) rs863224393
NM_004329.2(BMPR1A):c.1096A>C (p.Lys366Gln)
NM_004329.2(BMPR1A):c.1098A>C (p.Lys366Asn) rs1060503397
NM_004329.2(BMPR1A):c.1101C>T (p.Asn367=) rs863224394
NM_004329.2(BMPR1A):c.1102A>G (p.Ile368Val)
NM_004329.2(BMPR1A):c.1104C>T (p.Ile368=) rs1060504911
NM_004329.2(BMPR1A):c.110_111insCCATGGCACTGGGAT (p.Asp38_Ser39insHisGlyThrGlyIle)
NM_004329.2(BMPR1A):c.1112A>C (p.Lys371Thr)
NM_004329.2(BMPR1A):c.1118A>G (p.Asn373Ser)
NM_004329.2(BMPR1A):c.1119T>C (p.Asn373=) rs1224219121
NM_004329.2(BMPR1A):c.1140C>T (p.Asp380=) rs35572415
NM_004329.2(BMPR1A):c.1141C>G (p.Leu381Val) rs864622566
NM_004329.2(BMPR1A):c.114C>G (p.Asp38Glu) rs1021443408
NM_004329.2(BMPR1A):c.1152T>C (p.Ala384=) rs1057520795
NM_004329.2(BMPR1A):c.1153G>A (p.Val385Ile) rs1060503396
NM_004329.2(BMPR1A):c.1166G>A (p.Ser389Asn) rs879254049
NM_004329.2(BMPR1A):c.1166G>T (p.Ser389Ile) rs879254049
NM_004329.2(BMPR1A):c.1167-11_1167-8del rs1554891308
NM_004329.2(BMPR1A):c.1167T>G (p.Ser389Arg) rs1564724948
NM_004329.2(BMPR1A):c.116C>T (p.Ser39Phe) rs876658859
NM_004329.2(BMPR1A):c.1171A>T (p.Thr391Ser) rs1554891310
NM_004329.2(BMPR1A):c.1172C>G (p.Thr391Arg)
NM_004329.2(BMPR1A):c.1173A>T (p.Thr391=) rs766032673
NM_004329.2(BMPR1A):c.1174A>G (p.Asn392Asp)
NM_004329.2(BMPR1A):c.117C>G (p.Ser39=) rs757333646
NM_004329.2(BMPR1A):c.117C>T (p.Ser39=) rs757333646
NM_004329.2(BMPR1A):c.118G>A (p.Asp40Asn) rs587781556
NM_004329.2(BMPR1A):c.1190C>T (p.Pro397Leu) rs878854662
NM_004329.2(BMPR1A):c.1191C>G (p.Pro397=) rs751078831
NM_004329.2(BMPR1A):c.1196A>G (p.Asn399Ser) rs1554891315
NM_004329.2(BMPR1A):c.1199C>A (p.Thr400Asn) rs1554891317
NM_004329.2(BMPR1A):c.119A>C (p.Asp40Ala) rs1060503403
NM_004329.2(BMPR1A):c.119A>G (p.Asp40Gly) rs1060503403
NM_004329.2(BMPR1A):c.1214A>G (p.Lys405Arg) rs1064795593
NM_004329.2(BMPR1A):c.1215A>C (p.Lys405Asn) rs587781522
NM_004329.2(BMPR1A):c.1215A>G (p.Lys405=) rs587781522
NM_004329.2(BMPR1A):c.1216C>T (p.Arg406Cys) rs587781332
NM_004329.2(BMPR1A):c.1217G>A (p.Arg406His) rs587780107
NM_004329.2(BMPR1A):c.1217G>T (p.Arg406Leu) rs587780107
NM_004329.2(BMPR1A):c.1225G>A (p.Ala409Thr) rs1554891324
NM_004329.2(BMPR1A):c.1230C>G (p.Pro410=) rs200642188
NM_004329.2(BMPR1A):c.1231G>A (p.Glu411Lys) rs786202611
NM_004329.2(BMPR1A):c.1235T>C (p.Val412Ala) rs576247658
NM_004329.2(BMPR1A):c.1237_1239dup (p.Leu413dup) rs1064795499
NM_004329.2(BMPR1A):c.1240G>A (p.Asp414Asn) rs1554891329
NM_004329.2(BMPR1A):c.1242C>G (p.Asp414Glu) rs767296986
NM_004329.2(BMPR1A):c.1242C>T (p.Asp414=) rs767296986
NM_004329.2(BMPR1A):c.1243G>A (p.Glu415Lys) rs140592056
NM_004329.2(BMPR1A):c.1245A>C (p.Glu415Asp) rs786204235
NM_004329.2(BMPR1A):c.1247G>A (p.Ser416Asn) rs1060503395
NM_004329.2(BMPR1A):c.1249C>G (p.Leu417Val) rs1554891334
NM_004329.2(BMPR1A):c.124A>G (p.Lys42Glu) rs786203156
NM_004329.2(BMPR1A):c.1260C>G (p.Asn420Lys)
NM_004329.2(BMPR1A):c.1261C>T (p.His421Tyr) rs1554891338
NM_004329.2(BMPR1A):c.1266C>T (p.Phe422=) rs786202823
NM_004329.2(BMPR1A):c.1267del (p.Gln423fs)
NM_004329.2(BMPR1A):c.1270C>T (p.Pro424Ser) rs201362537
NM_004329.2(BMPR1A):c.1274A>T (p.Tyr425Phe) rs758599378
NM_004329.2(BMPR1A):c.1276A>C (p.Ile426Leu) rs780148965
NM_004329.2(BMPR1A):c.1276A>G (p.Ile426Val) rs780148965
NM_004329.2(BMPR1A):c.1287C>G (p.Asp429Glu)
NM_004329.2(BMPR1A):c.1288A>G (p.Ile430Val)
NM_004329.2(BMPR1A):c.1296C>T (p.Ser432=) rs1060504907
NM_004329.2(BMPR1A):c.1299C>T (p.Phe433=) rs150946485
NM_004329.2(BMPR1A):c.12A>G (p.Leu4=) rs772729006
NM_004329.2(BMPR1A):c.1300G>A (p.Gly434Ser) rs587780108
NM_004329.2(BMPR1A):c.1306A>G (p.Ile436Val) rs863224718
NM_004329.2(BMPR1A):c.1308C>T (p.Ile436=) rs1554891351
NM_004329.2(BMPR1A):c.1313G>T (p.Trp438Leu)
NM_004329.2(BMPR1A):c.1314G>A (p.Trp438Ter) rs1564725052
NM_004329.2(BMPR1A):c.1318A>G (p.Met440Val) rs1327393432
NM_004329.2(BMPR1A):c.1320G>A (p.Met440Ile) rs1554891352
NM_004329.2(BMPR1A):c.1322C>G (p.Ala441Gly)
NM_004329.2(BMPR1A):c.1322C>T (p.Ala441Val) rs1564725059
NM_004329.2(BMPR1A):c.1324C>T (p.Arg442Cys) rs587782496
NM_004329.2(BMPR1A):c.1324_1326CGT[1] (p.Arg443del) rs864622075
NM_004329.2(BMPR1A):c.1325G>A (p.Arg442His) rs1554891354
NM_004329.2(BMPR1A):c.1327C>T (p.Arg443Cys) rs35619497
NM_004329.2(BMPR1A):c.1330_1332del (p.Cys444del) rs1554891356
NM_004329.2(BMPR1A):c.1333A>G (p.Ile445Val) rs587781503
NM_004329.2(BMPR1A):c.133G>A (p.Glu45Lys) rs1554888112
NM_004329.2(BMPR1A):c.133_134del (p.Glu45fs) rs1564714804
NM_004329.2(BMPR1A):c.1342+2T>G
NM_004329.2(BMPR1A):c.1342+5G>A rs878854663
NM_004329.2(BMPR1A):c.1342+6A>G rs55763614
NM_004329.2(BMPR1A):c.1343-3T>C rs771504880
NM_004329.2(BMPR1A):c.1346T>C (p.Ile449Thr) rs587781884
NM_004329.2(BMPR1A):c.1347C>T (p.Ile449=) rs1057520966
NM_004329.2(BMPR1A):c.1348G>A (p.Val450Met) rs55932635
NM_004329.2(BMPR1A):c.1348G>C (p.Val450Leu) rs55932635
NM_004329.2(BMPR1A):c.134A>G (p.Glu45Gly) rs1564714807
NM_004329.2(BMPR1A):c.1360C>T (p.Gln454Ter) rs1554891570
NM_004329.2(BMPR1A):c.1362A>G (p.Gln454=) rs764090248
NM_004329.2(BMPR1A):c.1364T>C (p.Leu455Ser) rs1554891572
NM_004329.2(BMPR1A):c.1365G>T (p.Leu455Phe) rs753694209
NM_004329.2(BMPR1A):c.1368A>G (p.Pro456=) rs864622447
NM_004329.2(BMPR1A):c.1374C>A (p.Tyr458Ter) rs1564725603
NM_004329.2(BMPR1A):c.1378A>G (p.Met460Val)
NM_004329.2(BMPR1A):c.1379T>C (p.Met460Thr) rs758309022
NM_004329.2(BMPR1A):c.1380G>C (p.Met460Ile) rs1206243685
NM_004329.2(BMPR1A):c.1385C>T (p.Pro462Leu) rs1418504897
NM_004329.2(BMPR1A):c.1386G>A (p.Pro462=) rs751815388
NM_004329.2(BMPR1A):c.1395G>A (p.Pro465=) rs55845713
NM_004329.2(BMPR1A):c.1395G>C (p.Pro465=) rs55845713
NM_004329.2(BMPR1A):c.1398A>C (p.Ser466=) rs56410735
NM_004329.2(BMPR1A):c.139G>T (p.Gly47Ter) rs1564714809
NM_004329.2(BMPR1A):c.1401C>T (p.Tyr467=) rs149787558
NM_004329.2(BMPR1A):c.1402G>A (p.Glu468Lys) rs199907158
NM_004329.2(BMPR1A):c.140G>A (p.Gly47Glu) rs368595543
NM_004329.2(BMPR1A):c.1411C>T (p.Arg471Cys) rs771452619
NM_004329.2(BMPR1A):c.1412G>A (p.Arg471His) rs779371501
NM_004329.2(BMPR1A):c.1412G>T (p.Arg471Leu)
NM_004329.2(BMPR1A):c.1416G>C (p.Glu472Asp) rs1410256559
NM_004329.2(BMPR1A):c.1419T>G (p.Val473=) rs145756629
NM_004329.2(BMPR1A):c.1420G>C (p.Val474Leu) rs567733221
NM_004329.2(BMPR1A):c.1422G>A (p.Val474=) rs760220938
NM_004329.2(BMPR1A):c.1432C>T (p.Arg478Cys) rs372178531
NM_004329.2(BMPR1A):c.1433G>A (p.Arg478His) rs113849804
NM_004329.2(BMPR1A):c.1438C>T (p.Arg480Trp) rs876658515
NM_004329.2(BMPR1A):c.1439G>T (p.Arg480Leu) rs535109719
NM_004329.2(BMPR1A):c.1444A>G (p.Ile482Val) rs974639091
NM_004329.2(BMPR1A):c.1450T>A (p.Ser484Thr) rs1554891611
NM_004329.2(BMPR1A):c.1453A>C (p.Asn485His)
NM_004329.2(BMPR1A):c.1456C>T (p.Arg486Trp) rs767763451
NM_004329.2(BMPR1A):c.1457G>A (p.Arg486Gln) rs752802257
NM_004329.2(BMPR1A):c.1459T>C (p.Trp487Arg)
NM_004329.2(BMPR1A):c.1466G>C (p.Ser489Thr) rs1554891617
NM_004329.2(BMPR1A):c.1467_1469TGA[1] (p.Asp490del) rs1554891618
NM_004329.2(BMPR1A):c.1471G>A (p.Glu491Lys) rs1329735599
NM_004329.2(BMPR1A):c.1473+3G>A
NM_004329.2(BMPR1A):c.1473+6T>C rs1554891619
NM_004329.2(BMPR1A):c.1473+6dup rs1437595171
NM_004329.2(BMPR1A):c.1473+9A>G rs920145716
NM_004329.2(BMPR1A):c.1473A>G (p.Glu491=) rs557832530
NM_004329.2(BMPR1A):c.1474-10T>C rs369633360
NM_004329.2(BMPR1A):c.1474-3C>A rs1554891636
NM_004329.2(BMPR1A):c.1474-7T>C rs1060504901
NM_004329.2(BMPR1A):c.1474-9A>G rs372031054
NM_004329.2(BMPR1A):c.1481G>A (p.Arg494Gln) rs1204089728
NM_004329.2(BMPR1A):c.1498A>G (p.Met500Val) rs376651641
NM_004329.2(BMPR1A):c.1501T>G (p.Ser501Ala) rs1564725794
NM_004329.2(BMPR1A):c.1507T>A (p.Cys503Ser) rs1554891650
NM_004329.2(BMPR1A):c.150del (p.Ala51fs)
NM_004329.2(BMPR1A):c.1511G>A (p.Trp504Ter) rs878854664
NM_004329.2(BMPR1A):c.1513G>A (p.Ala505Thr) rs369966011
NM_004329.2(BMPR1A):c.151G>A (p.Ala51Thr) rs1554888117
NM_004329.2(BMPR1A):c.1520A>G (p.Asn507Ser) rs750840234
NM_004329.2(BMPR1A):c.1525G>T (p.Ala509Ser) rs1564725805
NM_004329.2(BMPR1A):c.1534C>T (p.Leu512Phe) rs1554891661
NM_004329.2(BMPR1A):c.1536C>T (p.Leu512=) rs758796892
NM_004329.2(BMPR1A):c.1549A>G (p.Ile517Val) rs754607465
NM_004329.2(BMPR1A):c.1552_1553insTAAT (p.Lys518fs)
NM_004329.2(BMPR1A):c.1553_1555AGA[1] (p.Lys519del)
NM_004329.2(BMPR1A):c.1554G>C (p.Lys518Asn) rs1554891668
NM_004329.2(BMPR1A):c.1559C>T (p.Thr520Met) rs1179044384
NM_004329.2(BMPR1A):c.1560G>A (p.Thr520=) rs142775086
NM_004329.2(BMPR1A):c.1568A>G (p.Lys523Arg) rs878854665
NM_004329.2(BMPR1A):c.1570A>G (p.Met524Val) rs747640982
NM_004329.2(BMPR1A):c.1573G>A (p.Val525Ile) rs769233029
NM_004329.2(BMPR1A):c.1578A>G (p.Glu526=) rs202030576
NM_004329.2(BMPR1A):c.1579T>A (p.Ser527Thr)
NM_004329.2(BMPR1A):c.1584A>C (p.Gln528His) rs1554891680
NM_004329.2(BMPR1A):c.1587T>A (p.Asp529Glu) rs864622175
NM_004329.2(BMPR1A):c.1596C>G (p.Ile532Met) rs201345248
NM_004329.2(BMPR1A):c.161A>T (p.Asp54Val) rs1554888124
NM_004329.2(BMPR1A):c.167T>G (p.Leu56Trp) rs1554888125
NM_004329.2(BMPR1A):c.168G>C (p.Leu56Phe)
NM_004329.2(BMPR1A):c.170C>G (p.Pro57Arg) rs1057517610
NM_004329.2(BMPR1A):c.176del (p.Phe58_Leu59insTer) rs786201038
NM_004329.2(BMPR1A):c.179A>G (p.Lys60Arg)
NM_004329.2(BMPR1A):c.185A>G (p.Tyr62Cys) rs1060503402
NM_004329.2(BMPR1A):c.194G>A (p.Gly65Glu)
NM_004329.2(BMPR1A):c.195G>A (p.Gly65=) rs765437517
NM_004329.2(BMPR1A):c.195G>C (p.Gly65=) rs765437517
NM_004329.2(BMPR1A):c.198C>T (p.His66=) rs150493865
NM_004329.2(BMPR1A):c.19T>C (p.Tyr7His) rs762926643
NM_004329.2(BMPR1A):c.1A>G (p.Met1Val) rs786203157
NM_004329.2(BMPR1A):c.205G>T (p.Asp69Tyr) rs1177143902
NM_004329.2(BMPR1A):c.209A>T (p.Asp70Val) rs1060503394
NM_004329.2(BMPR1A):c.213_228del (p.Ala71_Ile72insTer) rs1064792985
NM_004329.2(BMPR1A):c.214A>G (p.Ile72Val) rs1064795729
NM_004329.2(BMPR1A):c.228C>T (p.Cys76=) rs1554888145
NM_004329.2(BMPR1A):c.229A>C (p.Ile77Leu)
NM_004329.2(BMPR1A):c.229A>G (p.Ile77Val) rs878854666
NM_004329.2(BMPR1A):c.22A>G (p.Ile8Val) rs863224719
NM_004329.2(BMPR1A):c.230+3A>G rs1060503393
NM_004329.2(BMPR1A):c.230+7A>G rs186530845
NM_004329.2(BMPR1A):c.231-1G>C rs1564715427
NM_004329.2(BMPR1A):c.231-9C>T rs763313220
NM_004329.2(BMPR1A):c.233C>T (p.Thr78Ile) rs1064793490
NM_004329.2(BMPR1A):c.241C>T (p.His81Tyr) rs953797046
NM_004329.2(BMPR1A):c.242A>T (p.His81Leu) rs1064793333
NM_004329.2(BMPR1A):c.244T>G (p.Cys82Gly) rs1060503406
NM_004329.2(BMPR1A):c.244del (p.Cys82fs)
NM_004329.2(BMPR1A):c.247_251del (p.Phe83fs) rs786204187
NM_004329.2(BMPR1A):c.250G>A (p.Ala84Thr) rs1456980302
NM_004329.2(BMPR1A):c.253A>G (p.Ile85Val) rs374739820
NM_004329.2(BMPR1A):c.256A>G (p.Ile86Val) rs1554888312
NM_004329.2(BMPR1A):c.258_260AGA[2] (p.Glu88del) rs876659086
NM_004329.2(BMPR1A):c.271C>A (p.Gln91Lys) rs878854667
NM_004329.2(BMPR1A):c.27A>G (p.Arg9=) rs751420248
NM_004329.2(BMPR1A):c.283A>G (p.Thr95Ala) rs1564715471
NM_004329.2(BMPR1A):c.292T>G (p.Ser98Ala) rs1564715478
NM_004329.2(BMPR1A):c.294A>G (p.Ser98=) rs764466269
NM_004329.2(BMPR1A):c.297G>T (p.Gly99=) rs1251509897
NM_004329.2(BMPR1A):c.300T>C (p.Cys100=) rs754180012
NM_004329.2(BMPR1A):c.30A>G (p.Leu10=) rs754752449
NM_004329.2(BMPR1A):c.322T>C (p.Phe108Leu) rs1554888328
NM_004329.2(BMPR1A):c.332A>G (p.Lys111Arg) rs756944246
NM_004329.2(BMPR1A):c.333+5G>C rs1554888331
NM_004329.2(BMPR1A):c.334-10C>T rs1554888956
NM_004329.2(BMPR1A):c.334-3T>C rs1060503411
NM_004329.2(BMPR1A):c.334-4T>C rs1060504904
NM_004329.2(BMPR1A):c.334-4T>G rs1060504904
NM_004329.2(BMPR1A):c.334-8T>C rs1554888958
NM_004329.2(BMPR1A):c.33G>A (p.Leu11=) rs535411352
NM_004329.2(BMPR1A):c.340C>T (p.Pro114Ser) rs1554888960
NM_004329.2(BMPR1A):c.355C>T (p.Arg119Cys) rs587782494
NM_004329.2(BMPR1A):c.356G>A (p.Arg119His) rs1554888965
NM_004329.2(BMPR1A):c.357C>G (p.Arg119=) rs757950894
NM_004329.2(BMPR1A):c.358C>T (p.Arg120Trp)
NM_004329.2(BMPR1A):c.359G>A (p.Arg120Gln) rs1060503401
NM_004329.2(BMPR1A):c.360G>T (p.Arg120=) rs1554888968
NM_004329.2(BMPR1A):c.365T>C (p.Ile122Thr) rs1554888971
NM_004329.2(BMPR1A):c.366_384del (p.Glu123fs) rs1554888970
NM_004329.2(BMPR1A):c.370T>A (p.Cys124Ser)
NM_004329.2(BMPR1A):c.376C>G (p.Arg126Gly) rs781258592
NM_004329.2(BMPR1A):c.377G>A (p.Arg126Gln) rs864622549
NM_004329.2(BMPR1A):c.377G>C (p.Arg126Pro) rs864622549
NM_004329.2(BMPR1A):c.377G>T (p.Arg126Leu) rs864622549
NM_004329.2(BMPR1A):c.37G>A (p.Ala13Thr) rs200115604
NM_004329.2(BMPR1A):c.383A>G (p.Asn128Ser) rs375165807
NM_004329.2(BMPR1A):c.389G>C (p.Cys130Ser) rs863224720
NM_004329.2(BMPR1A):c.405dup (p.Pro136fs) rs876660442
NM_004329.2(BMPR1A):c.407C>T (p.Pro136Leu) rs1554888980
NM_004329.2(BMPR1A):c.415C>T (p.Pro139Ser) rs772163112
NM_004329.2(BMPR1A):c.418C>G (p.Pro140Ala) rs138478597
NM_004329.2(BMPR1A):c.418C>T (p.Pro140Ser) rs138478597
NM_004329.2(BMPR1A):c.419del (p.Pro140fs) rs1554888986
NM_004329.2(BMPR1A):c.424G>C (p.Val142Leu) rs1564717740
NM_004329.2(BMPR1A):c.430+10C>G rs863224395
NM_004329.2(BMPR1A):c.430+9G>C rs1554888989
NM_004329.2(BMPR1A):c.431-3C>T
NM_004329.2(BMPR1A):c.431-5G>A rs587782334
NM_004329.2(BMPR1A):c.431-6T>A
NM_004329.2(BMPR1A):c.435G>A (p.Pro145=) rs11818239
NM_004329.2(BMPR1A):c.436T>G (p.Phe146Val) rs1554889007
NM_004329.2(BMPR1A):c.437T>C (p.Phe146Ser) rs587778112
NM_004329.2(BMPR1A):c.438T>G (p.Phe146Leu) rs1564717849
NM_004329.2(BMPR1A):c.440T>C (p.Phe147Ser) rs371243894
NM_004329.2(BMPR1A):c.441_458delinsGA (p.Phe147fs) rs1131691179
NM_004329.2(BMPR1A):c.445G>A (p.Gly149Ser)
NM_004329.2(BMPR1A):c.447C>T (p.Gly149=)
NM_004329.2(BMPR1A):c.44_47del (p.Leu15fs) rs1554886816
NM_004329.2(BMPR1A):c.455G>A (p.Arg152Gln) rs567009904
NM_004329.2(BMPR1A):c.463G>T (p.Val155Phe)
NM_004329.2(BMPR1A):c.470T>G (p.Leu157Arg)
NM_004329.2(BMPR1A):c.471C>T (p.Leu157=) rs1060504903
NM_004329.2(BMPR1A):c.472A>C (p.Ile158Leu) rs1564717888
NM_004329.2(BMPR1A):c.478A>G (p.Met160Val) rs145101532
NM_004329.2(BMPR1A):c.494T>C (p.Ile165Thr)
NM_004329.2(BMPR1A):c.495T>G (p.Ile165Met)
NM_004329.2(BMPR1A):c.496G>A (p.Ala166Thr) rs971636078
NM_004329.2(BMPR1A):c.499A>G (p.Met167Val) rs200951235
NM_004329.2(BMPR1A):c.49A>C (p.Ile17Leu) rs778886055
NM_004329.2(BMPR1A):c.4C>A (p.Pro2Thr) rs11528010
NM_004329.2(BMPR1A):c.505A>T (p.Ile169Phe) rs878854668
NM_004329.2(BMPR1A):c.505_510del (p.Ile169_Phe170del)
NM_004329.2(BMPR1A):c.506_508TCT[1] (p.Phe170del) rs878854669
NM_004329.2(BMPR1A):c.510C>T (p.Phe170=) rs747266339
NM_004329.2(BMPR1A):c.516C>T (p.Ser172=) rs1391614707
NM_004329.2(BMPR1A):c.519C>G (p.Cys173Trp) rs863224721
NM_004329.2(BMPR1A):c.524G>A (p.Cys175Tyr) rs370091063
NM_004329.2(BMPR1A):c.524G>C (p.Cys175Ser) rs370091063
NM_004329.2(BMPR1A):c.527A>G (p.Tyr176Cys) rs1554889024
NM_004329.2(BMPR1A):c.530+5G>A rs1554889026
NM_004329.2(BMPR1A):c.530+7A>G rs1060504908
NM_004329.2(BMPR1A):c.542A>G (p.Lys181Arg)
NM_004329.2(BMPR1A):c.547A>G (p.Ile183Val)
NM_004329.2(BMPR1A):c.551C>T (p.Ser184Leu) rs1131691185
NM_004329.2(BMPR1A):c.558A>G (p.Arg186=) rs752388441
NM_004329.2(BMPR1A):c.559C>T (p.Arg187Cys) rs587782231
NM_004329.2(BMPR1A):c.559_561CGT[1] (p.Arg188del) rs751105749
NM_004329.2(BMPR1A):c.562C>T (p.Arg188Cys) rs879254272
NM_004329.2(BMPR1A):c.563G>A (p.Arg188His) rs749780872
NM_004329.2(BMPR1A):c.565T>C (p.Tyr189His) rs1564721927
NM_004329.2(BMPR1A):c.566dup (p.Tyr189Ter) rs1564721929
NM_004329.2(BMPR1A):c.567C>A (p.Tyr189Ter) rs1554890213
NM_004329.2(BMPR1A):c.569A>G (p.Asn190Ser) rs574229174
NM_004329.2(BMPR1A):c.571C>T (p.Arg191Cys) rs1053423400
NM_004329.2(BMPR1A):c.572G>A (p.Arg191His) rs746231785
NM_004329.2(BMPR1A):c.578dup (p.Leu193fs) rs1554890219
NM_004329.2(BMPR1A):c.579G>C (p.Leu193Phe) rs1060503404
NM_004329.2(BMPR1A):c.583C>A (p.Gln195Lys) rs771910503
NM_004329.2(BMPR1A):c.587A>G (p.Asp196Gly) rs141608069
NM_004329.2(BMPR1A):c.58C>T (p.Arg20Cys) rs1472397694
NM_004329.2(BMPR1A):c.594A>G (p.Ala198=) rs369860867
NM_004329.2(BMPR1A):c.59G>A (p.Arg20His) rs759014147
NM_004329.2(BMPR1A):c.59G>T (p.Arg20Leu)
NM_004329.2(BMPR1A):c.5C>T (p.Pro2Leu) rs143248687
NM_004329.2(BMPR1A):c.604G>T (p.Val202Phe) rs878854670
NM_004329.2(BMPR1A):c.618A>G (p.Leu206=) rs55992440
NM_004329.2(BMPR1A):c.629T>C (p.Ile210Thr) rs730881432
NM_004329.2(BMPR1A):c.634C>A (p.Gln212Lys) rs876658138
NM_004329.2(BMPR1A):c.634C>G (p.Gln212Glu)
NM_004329.2(BMPR1A):c.640C>A (p.Gln214Lys) rs1305429176
NM_004329.2(BMPR1A):c.648T>C (p.Ser216=) rs1060504905
NM_004329.2(BMPR1A):c.652A>G (p.Ser218Gly) rs1564721996
NM_004329.2(BMPR1A):c.653G>C (p.Ser218Thr)
NM_004329.2(BMPR1A):c.656G>A (p.Gly219Glu) rs878854671
NM_004329.2(BMPR1A):c.65A>C (p.Gln22Pro) rs747437716
NM_004329.2(BMPR1A):c.66A>C (p.Gln22His) rs786204152
NM_004329.2(BMPR1A):c.67+9G>T rs1060504909
NM_004329.2(BMPR1A):c.674del (p.Leu225fs) rs1564722014
NM_004329.2(BMPR1A):c.675+1G>C rs878854672
NM_004329.2(BMPR1A):c.675+6T>C rs1564722020
NM_004329.2(BMPR1A):c.675+8A>G rs1554890236
NM_004329.2(BMPR1A):c.675G>A (p.Leu225=) rs1554890235
NM_004329.2(BMPR1A):c.676-3A>C rs587782760
NM_004329.2(BMPR1A):c.676-4A>G rs929042482
NM_004329.2(BMPR1A):c.676-5T>C rs200537780
NM_004329.2(BMPR1A):c.676-6A>C rs186999445
NM_004329.2(BMPR1A):c.676-6A>G rs186999445
NM_004329.2(BMPR1A):c.676-8C>A rs1554890727
NM_004329.2(BMPR1A):c.676G>T (p.Val226Phe) rs587780110
NM_004329.2(BMPR1A):c.68-5T>C rs1060504902
NM_004329.2(BMPR1A):c.682C>A (p.Arg228=) rs587782682
NM_004329.2(BMPR1A):c.682C>T (p.Arg228Ter) rs587782682
NM_004329.2(BMPR1A):c.693C>G (p.Ala231=) rs1060504906
NM_004329.2(BMPR1A):c.703C>G (p.Gln235Glu) rs1554890745
NM_004329.2(BMPR1A):c.708G>A (p.Met236Ile) rs1564723344
NM_004329.2(BMPR1A):c.712C>G (p.Arg238Gly) rs747728399
NM_004329.2(BMPR1A):c.712C>T (p.Arg238Trp) rs747728399
NM_004329.2(BMPR1A):c.713G>A (p.Arg238Gln) rs191742018
NM_004329.2(BMPR1A):c.714G>A (p.Arg238=) rs1554890752
NM_004329.2(BMPR1A):c.718G>A (p.Val240Ile) rs1060503405
NM_004329.2(BMPR1A):c.726A>G (p.Lys242=) rs876659766
NM_004329.2(BMPR1A):c.730C>G (p.Arg244Gly)
NM_004329.2(BMPR1A):c.730C>T (p.Arg244Ter) rs759363072
NM_004329.2(BMPR1A):c.731G>A (p.Arg244Gln) rs147971049
NM_004329.2(BMPR1A):c.731dup (p.Tyr245fs) rs1554890759
NM_004329.2(BMPR1A):c.733T>A (p.Tyr245Asn) rs369012159
NM_004329.2(BMPR1A):c.734A>T (p.Tyr245Phe)
NM_004329.2(BMPR1A):c.735T>C (p.Tyr245=) rs1131691182
NM_004329.2(BMPR1A):c.744A>G (p.Val248=) rs1060504910
NM_004329.2(BMPR1A):c.749T>C (p.Met250Thr) rs587780783
NM_004329.2(BMPR1A):c.74A>G (p.Asn25Ser) rs1060503410
NM_004329.2(BMPR1A):c.751G>T (p.Gly251Cys) rs750513716
NM_004329.2(BMPR1A):c.753C>T (p.Gly251=) rs878854674
NM_004329.2(BMPR1A):c.755A>G (p.Lys252Arg) rs1554890769
NM_004329.2(BMPR1A):c.760C>T (p.Arg254Cys) rs587782578
NM_004329.2(BMPR1A):c.761G>A (p.Arg254His) rs766908700
NM_004329.2(BMPR1A):c.765C>T (p.Gly255=) rs786201114
NM_004329.2(BMPR1A):c.771del (p.Val258fs) rs878854673
NM_004329.2(BMPR1A):c.773T>C (p.Val258Ala)
NM_004329.2(BMPR1A):c.777G>A (p.Ala259=) rs56108371
NM_004329.2(BMPR1A):c.785T>C (p.Val262Ala) rs770830310
NM_004329.2(BMPR1A):c.79G>T (p.Asp27Tyr)
NM_004329.2(BMPR1A):c.7C>G (p.Gln3Glu)
NM_004329.2(BMPR1A):c.80A>G (p.Asp27Gly)
NM_004329.2(BMPR1A):c.813G>A (p.Trp271Ter)
NM_004329.2(BMPR1A):c.817C>T (p.Arg273Ter) rs587782400
NM_004329.2(BMPR1A):c.818G>A (p.Arg273Gln)
NM_004329.2(BMPR1A):c.826_827del (p.Glu276fs) rs587781928
NM_004329.2(BMPR1A):c.829A>G (p.Ile277Val) rs1060503400
NM_004329.2(BMPR1A):c.834C>A (p.Tyr278Ter) rs1230919713
NM_004329.2(BMPR1A):c.839C>G (p.Thr280Ser) rs1064793497
NM_004329.2(BMPR1A):c.83G>A (p.Ser28Asn) rs371904636
NM_004329.2(BMPR1A):c.840T>C (p.Thr280=) rs1032369061
NM_004329.2(BMPR1A):c.847dup (p.Met283fs) rs1564723486
NM_004329.2(BMPR1A):c.850C>T (p.Arg284Cys) rs765530074
NM_004329.2(BMPR1A):c.864dup (p.Leu289fs) rs1554890815
NM_004329.2(BMPR1A):c.868+1G>A
NM_004329.2(BMPR1A):c.868+7A>G rs1554890819
NM_004329.2(BMPR1A):c.868+9A>C rs766298777
NM_004329.2(BMPR1A):c.868+9A>G rs766298777
NM_004329.2(BMPR1A):c.869-2_871delAGGTT rs1564724111
NM_004329.2(BMPR1A):c.869-4A>C rs964020576
NM_004329.2(BMPR1A):c.869G>C (p.Gly290Ala) rs876660596
NM_004329.2(BMPR1A):c.879G>A (p.Ala293=) rs770203548
NM_004329.2(BMPR1A):c.886A>G (p.Ile296Val) rs1554891019
NM_004329.2(BMPR1A):c.887T>C (p.Ile296Thr) rs1554891022
NM_004329.2(BMPR1A):c.889A>G (p.Lys297Glu)
NM_004329.2(BMPR1A):c.901T>A (p.Ser301Thr)
NM_004329.2(BMPR1A):c.902C>A (p.Ser301Tyr) rs876660939
NM_004329.2(BMPR1A):c.907A>G (p.Thr303Ala) rs1554891025
NM_004329.2(BMPR1A):c.910C>A (p.Gln304Lys) rs1404557708
NM_004329.2(BMPR1A):c.910C>T (p.Gln304Ter) rs1404557708
NM_004329.2(BMPR1A):c.911A>G (p.Gln304Arg) rs730881434
NM_004329.2(BMPR1A):c.917A>G (p.Tyr306Cys) rs955604329
NM_004329.2(BMPR1A):c.917_920dup (p.Ile308fs) rs1554891032
NM_004329.2(BMPR1A):c.92A>C (p.His31Pro)
NM_004329.2(BMPR1A):c.933C>T (p.Tyr311=) rs1554891035
NM_004329.2(BMPR1A):c.934del (p.His312fs) rs1060503408
NM_004329.2(BMPR1A):c.941A>G (p.Asn314Ser) rs1564724169
NM_004329.2(BMPR1A):c.943G>A (p.Gly315Arg) rs730881435
NM_004329.2(BMPR1A):c.946T>A (p.Ser316Thr) rs1554891039
NM_004329.2(BMPR1A):c.947_948CT[1] (p.Leu317fs) rs1060503409
NM_004329.2(BMPR1A):c.94G>C (p.Gly32Arg) rs755462552
NM_004329.2(BMPR1A):c.953A>C (p.Tyr318Ser) rs587778111
NM_004329.2(BMPR1A):c.953A>G (p.Tyr318Cys) rs587778111
NM_004329.2(BMPR1A):c.957dup (p.Phe320fs) rs1554891043
NM_004329.2(BMPR1A):c.961C>T (p.Leu321=) rs377412651
NM_004329.2(BMPR1A):c.967T>C (p.Cys323Arg) rs876660750
NM_004329.2(BMPR1A):c.973A>G (p.Thr325Ala) rs1554891047
NM_004329.2(BMPR1A):c.97A>G (p.Thr33Ala) rs748515167
NM_004329.2(BMPR1A):c.983C>G (p.Thr328Ser) rs1554891053
NM_004329.2(BMPR1A):c.986G>C (p.Arg329Thr) rs1554891054
NM_004329.2(BMPR1A):c.987A>C (p.Arg329Ser) rs753521037
NM_004329.2(BMPR1A):c.988G>A (p.Ala330Thr) rs927151124
NM_004329.2(BMPR1A):c.98C>G (p.Thr33Ser) rs142454490
Single allele

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