ClinVar Miner

List of variants studied for Juvenile polyposis syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3136
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004329.3(BMPR1A):c.4C>A (p.Pro2Thr) rs11528010 0.40719
NM_004329.3(BMPR1A):c.1343-11T>C rs7074064 0.40534
NM_004329.3(BMPR1A):c.435G>A (p.Pro145=) rs11818239 0.04296
NM_004329.3(BMPR1A):c.675+12G>A rs12267107 0.04183
NM_004329.3(BMPR1A):c.1342+6A>G rs55763614 0.02404
NM_004329.3(BMPR1A):c.1140C>T (p.Asp380=) rs35572415 0.01512
NM_005359.6(SMAD4):c.455-6A>G rs181178864 0.00269
NM_005359.6(SMAD4):c.354G>A (p.Ala118=) rs145988618 0.00268
NM_004329.3(BMPR1A):c.618A>G (p.Leu206=) rs55992440 0.00257
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=) rs1801250 0.00228
NM_005359.6(SMAD4):c.1140-10T>C rs186332162 0.00221
NM_004329.3(BMPR1A):c.777G>A (p.Ala259=) rs56108371 0.00192
NM_004329.3(BMPR1A):c.1299C>T (p.Phe433=) rs150946485 0.00153
NM_004329.3(BMPR1A):c.1560G>A (p.Thr520=) rs142775086 0.00136
NM_005359.6(SMAD4):c.565C>T (p.Arg189Cys) rs140743238 0.00104
NM_004329.3(BMPR1A):c.1395G>C (p.Pro465=) rs55845713 0.00089
NM_004329.3(BMPR1A):c.1327C>T (p.Arg443Cys) rs35619497 0.00081
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val) rs149755320 0.00071
NM_004329.3(BMPR1A):c.1419T>G (p.Val473=) rs145756629 0.00058
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys) rs140592056 0.00051
NM_005359.6(SMAD4):c.880A>G (p.Met294Val) rs7238500 0.00050
NM_005359.6(SMAD4):c.1392C>T (p.Ala464=) rs140487104 0.00033
NM_005359.6(SMAD4):c.102A>G (p.Thr34=) rs146104321 0.00032
NM_004329.3(BMPR1A):c.1433G>A (p.Arg478His) rs113849804 0.00025
NM_005359.6(SMAD4):c.904+14T>C rs200973136 0.00017
NM_004329.3(BMPR1A):c.1235T>C (p.Val412Ala) rs576247658 0.00014
NM_004329.3(BMPR1A):c.676-6A>C rs186999445 0.00014
NM_005359.6(SMAD4):c.521C>A (p.Thr174Asn) rs138800446 0.00014
NM_005359.6(SMAD4):c.747G>C (p.Gln249His) rs372095620 0.00014
NM_005359.6(SMAD4):c.250-15C>T rs375910294 0.00012
NM_005359.6(SMAD4):c.582A>G (p.Thr194=) rs145805120 0.00012
NM_004329.3(BMPR1A):c.961C>T (p.Leu321=) rs377412651 0.00011
NM_004329.3(BMPR1A):c.98C>G (p.Thr33Ser) rs142454490 0.00011
NM_005359.6(SMAD4):c.466A>T (p.Met156Leu) rs534355764 0.00011
NM_004329.3(BMPR1A):c.530+13T>G rs367550999 0.00010
NM_005359.6(SMAD4):c.21G>A (p.Thr7=) rs142292491 0.00010
NM_005359.6(SMAD4):c.424+5G>A rs200772603 0.00010
NM_005359.6(SMAD4):c.746A>C (p.Gln249Pro) rs371536364 0.00010
NM_004329.3(BMPR1A):c.1348G>A (p.Val450Met) rs55932635 0.00009
NM_004329.3(BMPR1A):c.33G>A (p.Leu11=) rs535411352 0.00009
NM_005359.6(SMAD4):c.852A>G (p.Gln284=) rs144378484 0.00008
NM_004329.3(BMPR1A):c.478A>G (p.Met160Val) rs145101532 0.00007
NM_004329.3(BMPR1A):c.499A>G (p.Met167Val) rs200951235 0.00007
NM_004329.3(BMPR1A):c.879G>A (p.Ala293=) rs770203548 0.00007
NM_004329.3(BMPR1A):c.118G>A (p.Asp40Asn) rs587781556 0.00006
NM_004329.3(BMPR1A):c.1520A>G (p.Asn507Ser) rs750840234 0.00006
NM_005359.6(SMAD4):c.249+14G>A rs777811251 0.00006
NM_005359.6(SMAD4):c.606C>G (p.Ala202=) rs780665234 0.00006
NM_005359.6(SMAD4):c.667+9T>C rs776523203 0.00006
NM_004329.3(BMPR1A):c.83G>A (p.Ser28Asn) rs371904636 0.00005
NM_005359.6(SMAD4):c.1608A>G (p.Leu536=) rs753128184 0.00005
NM_005359.6(SMAD4):c.1647A>G (p.Gln549=) rs113545983 0.00005
NM_005359.6(SMAD4):c.454+20C>T rs758615780 0.00005
NM_005359.6(SMAD4):c.947A>G (p.Asn316Ser) rs377119288 0.00005
NM_004329.3(BMPR1A):c.1216C>T (p.Arg406Cys) rs587781332 0.00004
NM_004329.3(BMPR1A):c.1401C>T (p.Tyr467=) rs149787558 0.00004
NM_004329.3(BMPR1A):c.140G>A (p.Gly47Glu) rs368595543 0.00004
NM_004329.3(BMPR1A):c.1474-10T>C rs369633360 0.00004
NM_004329.3(BMPR1A):c.1474-9A>G rs372031054 0.00004
NM_004329.3(BMPR1A):c.1498A>G (p.Met500Val) rs376651641 0.00004
NM_004329.3(BMPR1A):c.383A>G (p.Asn128Ser) rs375165807 0.00004
NM_004329.3(BMPR1A):c.430+11C>T rs762244358 0.00004
NM_004329.3(BMPR1A):c.563G>A (p.Arg188His) rs749780872 0.00004
NM_004329.3(BMPR1A):c.583C>A (p.Gln195Lys) rs771910503 0.00004
NM_004329.3(BMPR1A):c.760C>T (p.Arg254Cys) rs587782578 0.00004
NM_005359.6(SMAD4):c.1218G>A (p.Ala406=) rs145097078 0.00004
NM_005359.6(SMAD4):c.1236C>T (p.Tyr412=) rs121912577 0.00004
NM_005359.6(SMAD4):c.1644A>G (p.Pro548=) rs756795016 0.00004
NM_005359.6(SMAD4):c.1653A>G (p.Leu551=) rs199526820 0.00004
NM_005359.6(SMAD4):c.228A>G (p.Arg76=) rs587780556 0.00004
NM_005359.6(SMAD4):c.249+16G>A rs751563004 0.00004
NM_004329.3(BMPR1A):c.117C>T (p.Ser39=) rs757333646 0.00003
NM_004329.3(BMPR1A):c.1420G>C (p.Val474Leu) rs567733221 0.00003
NM_004329.3(BMPR1A):c.1422G>A (p.Val474=) rs760220938 0.00003
NM_004329.3(BMPR1A):c.1596C>G (p.Ile532Met) rs201345248 0.00003
NM_004329.3(BMPR1A):c.198C>T (p.His66=) rs150493865 0.00003
NM_004329.3(BMPR1A):c.437T>C (p.Phe146Ser) rs587778112 0.00003
NM_004329.3(BMPR1A):c.510C>T (p.Phe170=) rs747266339 0.00003
NM_004329.3(BMPR1A):c.530+12T>C rs976070262 0.00003
NM_004329.3(BMPR1A):c.569A>G (p.Asn190Ser) rs574229174 0.00003
NM_004329.3(BMPR1A):c.65A>C (p.Gln22Pro) rs747437716 0.00003
NM_004329.3(BMPR1A):c.68-12A>G rs201120747 0.00003
NM_005359.6(SMAD4):c.1215C>T (p.His405=) rs751732234 0.00003
NM_005359.6(SMAD4):c.1447+16A>G rs776280713 0.00003
NM_005359.6(SMAD4):c.1461T>A (p.Ala487=) rs769607309 0.00003
NM_005359.6(SMAD4):c.20C>T (p.Thr7Met) rs372316981 0.00003
NM_005359.6(SMAD4):c.332A>C (p.His111Pro) rs1064794363 0.00003
NM_005359.6(SMAD4):c.411A>G (p.Val137=) rs201296880 0.00003
NM_005359.6(SMAD4):c.84A>G (p.Gln28=) rs778465458 0.00003
NM_005359.6(SMAD4):c.956-3T>C rs748283001 0.00003
NM_004329.3(BMPR1A):c.1017C>G (p.Ala339=) rs780130011 0.00002
NM_004329.3(BMPR1A):c.1048T>C (p.Tyr350His) rs749571434 0.00002
NM_004329.3(BMPR1A):c.1068C>T (p.Pro356=) rs759520915 0.00002
NM_004329.3(BMPR1A):c.119A>C (p.Asp40Ala) rs1060503403 0.00002
NM_004329.3(BMPR1A):c.12A>G (p.Leu4=) rs772729006 0.00002
NM_004329.3(BMPR1A):c.1300G>A (p.Gly434Ser) rs587780108 0.00002
NM_004329.3(BMPR1A):c.1333A>G (p.Ile445Val) rs587781503 0.00002
NM_004329.3(BMPR1A):c.1342+11G>A rs548013712 0.00002
NM_004329.3(BMPR1A):c.1368A>G (p.Pro456=) rs864622447 0.00002
NM_004329.3(BMPR1A):c.1473+20C>G rs757817530 0.00002
NM_004329.3(BMPR1A):c.1473+9A>G rs920145716 0.00002
NM_004329.3(BMPR1A):c.1474-8C>T rs1163768825 0.00002
NM_004329.3(BMPR1A):c.1569G>A (p.Lys523=) rs876659703 0.00002
NM_004329.3(BMPR1A):c.1578A>G (p.Glu526=) rs202030576 0.00002
NM_004329.3(BMPR1A):c.230+7A>G rs186530845 0.00002
NM_004329.3(BMPR1A):c.27A>G (p.Arg9=) rs751420248 0.00002
NM_004329.3(BMPR1A):c.30A>G (p.Leu10=) rs754752449 0.00002
NM_004329.3(BMPR1A):c.455G>A (p.Arg152Gln) rs567009904 0.00002
NM_004329.3(BMPR1A):c.47T>A (p.Phe16Tyr) rs151235720 0.00002
NM_004329.3(BMPR1A):c.53T>C (p.Ile18Thr) rs745920240 0.00002
NM_004329.3(BMPR1A):c.560G>A (p.Arg187His) rs189059377 0.00002
NM_004329.3(BMPR1A):c.568A>G (p.Asn190Asp) rs771444196 0.00002
NM_004329.3(BMPR1A):c.587A>G (p.Asp196Gly) rs141608069 0.00002
NM_004329.3(BMPR1A):c.675+18A>G rs533369424 0.00002
NM_004329.3(BMPR1A):c.725A>G (p.Lys242Arg) rs762926637 0.00002
NM_004329.3(BMPR1A):c.731G>A (p.Arg244Gln) rs147971049 0.00002
NM_004329.3(BMPR1A):c.762T>C (p.Arg254=) rs372569976 0.00002
NM_004329.3(BMPR1A):c.765C>T (p.Gly255=) rs786201114 0.00002
NM_004329.3(BMPR1A):c.885C>T (p.Asp295=) rs773569581 0.00002
NM_004329.3(BMPR1A):c.911A>G (p.Gln304Arg) rs730881434 0.00002
NM_004329.3(BMPR1A):c.94G>C (p.Gly32Arg) rs755462552 0.00002
NM_005359.6(SMAD4):c.1106A>G (p.Asn369Ser) rs139569694 0.00002
NM_005359.6(SMAD4):c.1140-11T>A rs1224777335 0.00002
NM_005359.6(SMAD4):c.132A>G (p.Val44=) rs965942065 0.00002
NM_005359.6(SMAD4):c.1611C>T (p.Asp537=) rs369598262 0.00002
NM_005359.6(SMAD4):c.261G>A (p.Arg87=) rs1057520857 0.00002
NM_005359.6(SMAD4):c.294C>T (p.Leu98=) rs202126703 0.00002
NM_005359.6(SMAD4):c.342T>C (p.Tyr114=) rs757211048 0.00002
NM_005359.6(SMAD4):c.369T>C (p.Cys123=) rs140926102 0.00002
NM_005359.6(SMAD4):c.425-17C>T rs767419859 0.00002
NM_005359.6(SMAD4):c.471G>A (p.Met157Ile) rs780716382 0.00002
NM_005359.6(SMAD4):c.575C>T (p.Thr192Ile) rs587780792 0.00002
NM_005359.6(SMAD4):c.647A>G (p.Asn216Ser) rs138386557 0.00002
NM_005359.6(SMAD4):c.884C>T (p.Pro295Leu) rs370176106 0.00002
NM_005359.6(SMAD4):c.955+19T>C rs372903861 0.00002
NM_005359.6(SMAD4):c.966T>C (p.Tyr322=) rs1465916558 0.00002
NM_005359.6(SMAD4):c.9T>C (p.Asn3=) rs762273127 0.00002
NM_004329.3(BMPR1A):c.1000T>A (p.Leu334Met) rs749873461 0.00001
NM_004329.3(BMPR1A):c.1013C>T (p.Ala338Val) rs199476086 0.00001
NM_004329.3(BMPR1A):c.1058A>G (p.Gln353Arg) rs1405441693 0.00001
NM_004329.3(BMPR1A):c.1059A>G (p.Gln353=) rs1060503407 0.00001
NM_004329.3(BMPR1A):c.1066C>T (p.Pro356Ser) rs774555805 0.00001
NM_004329.3(BMPR1A):c.1069G>A (p.Ala357Thr) rs201509164 0.00001
NM_004329.3(BMPR1A):c.1081C>G (p.Arg361Gly) rs764466442 0.00001
NM_004329.3(BMPR1A):c.1081C>T (p.Arg361Ter) rs764466442 0.00001
NM_004329.3(BMPR1A):c.1086C>T (p.Asp362=) rs201415408 0.00001
NM_004329.3(BMPR1A):c.1089A>G (p.Leu363=) rs863224393 0.00001
NM_004329.3(BMPR1A):c.1112A>C (p.Lys371Thr) rs1490421596 0.00001
NM_004329.3(BMPR1A):c.1146C>A (p.Gly382=) rs786203626 0.00001
NM_004329.3(BMPR1A):c.1152T>C (p.Ala384=) rs1057520795 0.00001
NM_004329.3(BMPR1A):c.1153G>A (p.Val385Ile) rs1060503396 0.00001
NM_004329.3(BMPR1A):c.1166+15G>T rs1554891118 0.00001
NM_004329.3(BMPR1A):c.1166G>T (p.Ser389Ile) rs879254049 0.00001
NM_004329.3(BMPR1A):c.1167-11T>C rs762641480 0.00001
NM_004329.3(BMPR1A):c.1167-12C>G rs1406664448 0.00001
NM_004329.3(BMPR1A):c.1173A>T (p.Thr391=) rs766032673 0.00001
NM_004329.3(BMPR1A):c.1191C>G (p.Pro397=) rs751078831 0.00001
NM_004329.3(BMPR1A):c.1204G>A (p.Val402Met) rs1462602717 0.00001
NM_004329.3(BMPR1A):c.1206G>A (p.Val402=) rs1843665394 0.00001
NM_004329.3(BMPR1A):c.1215A>C (p.Lys405Asn) rs587781522 0.00001
NM_004329.3(BMPR1A):c.122A>G (p.Gln41Arg) rs1363945274 0.00001
NM_004329.3(BMPR1A):c.1230C>T (p.Pro410=) rs200642188 0.00001
NM_004329.3(BMPR1A):c.1242C>T (p.Asp414=) rs767296986 0.00001
NM_004329.3(BMPR1A):c.1260C>G (p.Asn420Lys) rs876660798 0.00001
NM_004329.3(BMPR1A):c.1274A>T (p.Tyr425Phe) rs758599378 0.00001
NM_004329.3(BMPR1A):c.1279A>G (p.Met427Val) rs747090661 0.00001
NM_004329.3(BMPR1A):c.1296C>T (p.Ser432=) rs1060504907 0.00001
NM_004329.3(BMPR1A):c.1324C>T (p.Arg442Cys) rs587782496 0.00001
NM_004329.3(BMPR1A):c.1335C>T (p.Ile445=) rs1218546341 0.00001
NM_004329.3(BMPR1A):c.1343-3T>C rs771504880 0.00001
NM_004329.3(BMPR1A):c.1347C>T (p.Ile449=) rs1057520966 0.00001
NM_004329.3(BMPR1A):c.1359C>T (p.Tyr453=) rs876660878 0.00001
NM_004329.3(BMPR1A):c.1362A>G (p.Gln454=) rs764090248 0.00001
NM_004329.3(BMPR1A):c.1371T>C (p.Tyr457=) rs1484956301 0.00001
NM_004329.3(BMPR1A):c.1379T>C (p.Met460Thr) rs758309022 0.00001
NM_004329.3(BMPR1A):c.1385C>T (p.Pro462Leu) rs1418504897 0.00001
NM_004329.3(BMPR1A):c.1398A>C (p.Ser466=) rs56410735 0.00001
NM_004329.3(BMPR1A):c.1402G>A (p.Glu468Lys) rs199907158 0.00001
NM_004329.3(BMPR1A):c.1411C>T (p.Arg471Cys) rs771452619 0.00001
NM_004329.3(BMPR1A):c.1412G>A (p.Arg471His) rs779371501 0.00001
NM_004329.3(BMPR1A):c.1416G>C (p.Glu472Asp) rs1410256559 0.00001
NM_004329.3(BMPR1A):c.1430A>G (p.Lys477Arg) rs767995260 0.00001
NM_004329.3(BMPR1A):c.1432C>T (p.Arg478Cys) rs372178531 0.00001
NM_004329.3(BMPR1A):c.1444A>G (p.Ile482Val) rs974639091 0.00001
NM_004329.3(BMPR1A):c.1456C>T (p.Arg486Trp) rs767763451 0.00001
NM_004329.3(BMPR1A):c.1459T>C (p.Trp487Arg) rs112883778 0.00001
NM_004329.3(BMPR1A):c.1473+11C>G rs1554891622 0.00001
NM_004329.3(BMPR1A):c.1473+14A>G rs1317491486 0.00001
NM_004329.3(BMPR1A):c.1473+18C>T rs764229448 0.00001
NM_004329.3(BMPR1A):c.1473+19C>A rs754418526 0.00001
NM_004329.3(BMPR1A):c.1475G>A (p.Cys492Tyr) rs1256130183 0.00001
NM_004329.3(BMPR1A):c.1479A>G (p.Leu493=) rs1554891640 0.00001
NM_004329.3(BMPR1A):c.1481G>A (p.Arg494Gln) rs1204089728 0.00001
NM_004329.3(BMPR1A):c.1503A>G (p.Ser501=) rs1413602483 0.00001
NM_004329.3(BMPR1A):c.1513G>A (p.Ala505Thr) rs369966011 0.00001
NM_004329.3(BMPR1A):c.1536C>T (p.Leu512=) rs758796892 0.00001
NM_004329.3(BMPR1A):c.1538C>G (p.Thr513Arg) rs1201398448 0.00001
NM_004329.3(BMPR1A):c.1543T>C (p.Leu515=) rs746700427 0.00001
NM_004329.3(BMPR1A):c.1549A>G (p.Ile517Val) rs754607465 0.00001
NM_004329.3(BMPR1A):c.1559C>T (p.Thr520Met) rs1179044384 0.00001
NM_004329.3(BMPR1A):c.1571T>C (p.Met524Thr) rs1843703476 0.00001
NM_004329.3(BMPR1A):c.157G>A (p.Glu53Lys) rs1554888119 0.00001
NM_004329.3(BMPR1A):c.168G>C (p.Leu56Phe) rs1589763414 0.00001
NM_004329.3(BMPR1A):c.183C>T (p.Cys61=) rs140610221 0.00001
NM_004329.3(BMPR1A):c.189C>T (p.Cys63=) rs1413243663 0.00001
NM_004329.3(BMPR1A):c.213T>C (p.Ala71=) rs1554888138 0.00001
NM_004329.3(BMPR1A):c.225A>G (p.Thr75=) rs1414026379 0.00001
NM_004329.3(BMPR1A):c.22A>G (p.Ile8Val) rs863224719 0.00001
NM_004329.3(BMPR1A):c.230+15C>T rs1334468883 0.00001
NM_004329.3(BMPR1A):c.230+19C>A rs751663790 0.00001
NM_004329.3(BMPR1A):c.230+3A>G rs1060503393 0.00001
NM_004329.3(BMPR1A):c.253A>G (p.Ile85Val) rs374739820 0.00001
NM_004329.3(BMPR1A):c.268G>A (p.Asp90Asn) rs1843160640 0.00001
NM_004329.3(BMPR1A):c.276A>G (p.Gly92=) rs1564715466 0.00001
NM_004329.3(BMPR1A):c.285A>G (p.Thr95=) rs1473234057 0.00001
NM_004329.3(BMPR1A):c.294A>G (p.Ser98=) rs764466269 0.00001
NM_004329.3(BMPR1A):c.312A>G (p.Glu104=) rs1199044872 0.00001
NM_004329.3(BMPR1A):c.332A>G (p.Lys111Arg) rs756944246 0.00001
NM_004329.3(BMPR1A):c.333+15G>A rs778536321 0.00001
NM_004329.3(BMPR1A):c.334-10C>T rs1554888956 0.00001
NM_004329.3(BMPR1A):c.347C>T (p.Ala116Val) rs750097648 0.00001
NM_004329.3(BMPR1A):c.357C>G (p.Arg119=) rs757950894 0.00001
NM_004329.3(BMPR1A):c.372T>C (p.Cys124=) rs755028781 0.00001
NM_004329.3(BMPR1A):c.377G>A (p.Arg126Gln) rs864622549 0.00001
NM_004329.3(BMPR1A):c.411A>G (p.Thr137=) rs777389675 0.00001
NM_004329.3(BMPR1A):c.418C>G (p.Pro140Ala) rs138478597 0.00001
NM_004329.3(BMPR1A):c.418C>T (p.Pro140Ser) rs138478597 0.00001
NM_004329.3(BMPR1A):c.427A>G (p.Ile143Val) rs760739609 0.00001
NM_004329.3(BMPR1A):c.430+12G>A rs201530603 0.00001
NM_004329.3(BMPR1A):c.430+20T>A rs1404317235 0.00001
NM_004329.3(BMPR1A):c.431-5G>A rs587782334 0.00001
NM_004329.3(BMPR1A):c.454C>G (p.Arg152Gly) rs1131691178 0.00001
NM_004329.3(BMPR1A):c.471C>T (p.Leu157=) rs1060504903 0.00001
NM_004329.3(BMPR1A):c.474T>C (p.Ile158=) rs759223499 0.00001
NM_004329.3(BMPR1A):c.484G>C (p.Val162Leu) rs1843287316 0.00001
NM_004329.3(BMPR1A):c.490A>G (p.Ile164Val) rs142965096 0.00001
NM_004329.3(BMPR1A):c.505A>C (p.Ile169Leu) rs878854668 0.00001
NM_004329.3(BMPR1A):c.506_507insTCC (p.Ile169_Phe170insPro) rs763554505 0.00001
NM_004329.3(BMPR1A):c.512C>G (p.Ser171Cys) rs781286980 0.00001
NM_004329.3(BMPR1A):c.516C>T (p.Ser172=) rs1391614707 0.00001
NM_004329.3(BMPR1A):c.524G>A (p.Cys175Tyr) rs370091063 0.00001
NM_004329.3(BMPR1A):c.530+7A>C rs1060504908 0.00001
NM_004329.3(BMPR1A):c.531-13G>A rs1373055592 0.00001
NM_004329.3(BMPR1A):c.531-16T>C rs1375337533 0.00001
NM_004329.3(BMPR1A):c.558A>G (p.Arg186=) rs752388441 0.00001
NM_004329.3(BMPR1A):c.559C>T (p.Arg187Cys) rs587782231 0.00001
NM_004329.3(BMPR1A):c.562C>T (p.Arg188Cys) rs879254272 0.00001
NM_004329.3(BMPR1A):c.571C>T (p.Arg191Cys) rs1053423400 0.00001
NM_004329.3(BMPR1A):c.572G>A (p.Arg191His) rs746231785 0.00001
NM_004329.3(BMPR1A):c.584A>G (p.Gln195Arg) rs775295628 0.00001
NM_004329.3(BMPR1A):c.590A>C (p.Glu197Ala) rs763548019 0.00001
NM_004329.3(BMPR1A):c.593C>A (p.Ala198Glu) rs776160961 0.00001
NM_004329.3(BMPR1A):c.594A>G (p.Ala198=) rs369860867 0.00001
NM_004329.3(BMPR1A):c.59G>A (p.Arg20His) rs759014147 0.00001
NM_004329.3(BMPR1A):c.5C>T (p.Pro2Leu) rs143248687 0.00001
NM_004329.3(BMPR1A):c.60T>C (p.Arg20=) rs780704079 0.00001
NM_004329.3(BMPR1A):c.628A>G (p.Ile210Val) rs750274275 0.00001
NM_004329.3(BMPR1A):c.634C>A (p.Gln212Lys) rs876658138 0.00001
NM_004329.3(BMPR1A):c.666A>G (p.Leu222=) rs1843504404 0.00001
NM_004329.3(BMPR1A):c.67+15A>G rs1483213298 0.00001
NM_004329.3(BMPR1A):c.675+20A>G rs746319662 0.00001
NM_004329.3(BMPR1A):c.676-12T>C rs1057520681 0.00001
NM_004329.3(BMPR1A):c.676-15C>A rs918982108 0.00001
NM_004329.3(BMPR1A):c.676-3A>C rs587782760 0.00001
NM_004329.3(BMPR1A):c.676-4A>G rs929042482 0.00001
NM_004329.3(BMPR1A):c.676-5T>C rs200537780 0.00001
NM_004329.3(BMPR1A):c.676G>T (p.Val226Phe) rs587780110 0.00001
NM_004329.3(BMPR1A):c.68-18T>C rs1057521738 0.00001
NM_004329.3(BMPR1A):c.68-20A>G rs750599523 0.00001
NM_004329.3(BMPR1A):c.682C>A (p.Arg228=) rs587782682 0.00001
NM_004329.3(BMPR1A):c.687T>C (p.Thr229=) rs1402603133 0.00001
NM_004329.3(BMPR1A):c.688A>G (p.Ile230Val) rs730881433 0.00001
NM_004329.3(BMPR1A):c.713G>A (p.Arg238Gln) rs191742018 0.00001
NM_004329.3(BMPR1A):c.730C>G (p.Arg244Gly) rs759363072 0.00001
NM_004329.3(BMPR1A):c.732A>G (p.Arg244=) rs1554890761 0.00001
NM_004329.3(BMPR1A):c.748A>T (p.Met250Leu) rs762087997 0.00001
NM_004329.3(BMPR1A):c.749T>C (p.Met250Thr) rs587780783 0.00001
NM_004329.3(BMPR1A):c.74A>G (p.Asn25Ser) rs1060503410 0.00001
NM_004329.3(BMPR1A):c.751G>T (p.Gly251Cys) rs750513716 0.00001
NM_004329.3(BMPR1A):c.753C>T (p.Gly251=) rs878854674 0.00001
NM_004329.3(BMPR1A):c.761G>A (p.Arg254His) rs766908700 0.00001
NM_004329.3(BMPR1A):c.766G>A (p.Glu256Lys) rs755372473 0.00001
NM_004329.3(BMPR1A):c.774G>A (p.Val258=) rs540411494 0.00001
NM_004329.3(BMPR1A):c.784G>A (p.Val262Ile) rs748790017 0.00001
NM_004329.3(BMPR1A):c.785T>G (p.Val262Gly) rs770830310 0.00001
NM_004329.3(BMPR1A):c.786A>G (p.Val262=) rs745728681 0.00001
NM_004329.3(BMPR1A):c.789C>T (p.Phe263=) rs771932684 0.00001
NM_004329.3(BMPR1A):c.791T>C (p.Phe264Ser) rs775377247 0.00001
NM_004329.3(BMPR1A):c.798T>C (p.Thr266=) rs1439711488 0.00001
NM_004329.3(BMPR1A):c.818G>A (p.Arg273Gln) rs762178061 0.00001
NM_004329.3(BMPR1A):c.840T>C (p.Thr280=) rs1032369061 0.00001
NM_004329.3(BMPR1A):c.841G>C (p.Val281Leu) rs141625907 0.00001
NM_004329.3(BMPR1A):c.868+19A>G rs1843589862 0.00001
NM_004329.3(BMPR1A):c.868+9A>G rs766298777 0.00001
NM_004329.3(BMPR1A):c.869-14C>T rs527270742 0.00001
NM_004329.3(BMPR1A):c.869-4A>C rs964020576 0.00001
NM_004329.3(BMPR1A):c.874A>G (p.Ile292Val) rs746800007 0.00001
NM_004329.3(BMPR1A):c.889A>G (p.Lys297Glu) rs1589291527 0.00001
NM_004329.3(BMPR1A):c.897A>T (p.Thr299=) rs1057521188 0.00001
NM_004329.3(BMPR1A):c.914T>G (p.Leu305Arg) rs1453306253 0.00001
NM_004329.3(BMPR1A):c.915C>G (p.Leu305=) rs1371624857 0.00001
NM_004329.3(BMPR1A):c.926C>G (p.Thr309Ser) rs1276976514 0.00001
NM_004329.3(BMPR1A):c.93T>A (p.His31Gln) rs1461705514 0.00001
NM_004329.3(BMPR1A):c.972T>C (p.Ala324=) rs1301330096 0.00001
NM_004329.3(BMPR1A):c.975A>G (p.Thr325=) rs974541270 0.00001
NM_004329.3(BMPR1A):c.97A>G (p.Thr33Ala) rs748515167 0.00001
NM_004329.3(BMPR1A):c.983C>G (p.Thr328Ser) rs1554891053 0.00001
NM_004329.3(BMPR1A):c.987A>C (p.Arg329Ser) rs753521037 0.00001
NM_004329.3(BMPR1A):c.995T>C (p.Leu332Pro) rs1064793886 0.00001
NM_005359.6(SMAD4):c.1005A>G (p.Val335=) rs878854762 0.00001
NM_005359.6(SMAD4):c.1006G>C (p.Gly336Arg) rs878854763 0.00001
NM_005359.6(SMAD4):c.1039A>G (p.Ile347Val) rs747360831 0.00001
NM_005359.6(SMAD4):c.1046C>T (p.Thr349Ile) rs564408927 0.00001
NM_005359.6(SMAD4):c.1059C>T (p.Tyr353=) rs863224400 0.00001
NM_005359.6(SMAD4):c.1098A>G (p.Gln366=) rs990054989 0.00001
NM_005359.6(SMAD4):c.1124C>T (p.Ala375Val) rs1555686499 0.00001
NM_005359.6(SMAD4):c.1137A>G (p.Ala379=) rs755178619 0.00001
NM_005359.6(SMAD4):c.1139+10G>C rs1324590608 0.00001
NM_005359.6(SMAD4):c.1140-18T>C rs1328617837 0.00001
NM_005359.6(SMAD4):c.1140G>A (p.Arg380=) rs1060504025 0.00001
NM_005359.6(SMAD4):c.1155A>G (p.Lys385=) rs752938351 0.00001
NM_005359.6(SMAD4):c.1160T>G (p.Val387Gly) rs1910179680 0.00001
NM_005359.6(SMAD4):c.119T>C (p.Ile40Thr) rs939612648 0.00001
NM_005359.6(SMAD4):c.1213C>T (p.His405Tyr) rs1179609154 0.00001
NM_005359.6(SMAD4):c.1219G>C (p.Val407Leu) rs147621330 0.00001
NM_005359.6(SMAD4):c.1254T>G (p.Ala418=) rs1186154913 0.00001
NM_005359.6(SMAD4):c.1263A>G (p.Ala421=) rs1406947861 0.00001
NM_005359.6(SMAD4):c.1299A>G (p.Ala433=) rs370558697 0.00001
NM_005359.6(SMAD4):c.1308+10A>G rs1060504024 0.00001
NM_005359.6(SMAD4):c.1353G>A (p.Ala451=) rs1441353791 0.00001
NM_005359.6(SMAD4):c.1371A>G (p.Ala457=) rs750933193 0.00001
NM_005359.6(SMAD4):c.1393G>A (p.Val465Met) rs786201798 0.00001
NM_005359.6(SMAD4):c.1422A>C (p.Ser474=) rs786201261 0.00001
NM_005359.6(SMAD4):c.1449T>C (p.Ser483=) rs745598003 0.00001
NM_005359.6(SMAD4):c.144G>A (p.Lys48=) rs1057523437 0.00001
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413 0.00001
NM_005359.6(SMAD4):c.1492T>C (p.Leu498=) rs1057520520 0.00001
NM_005359.6(SMAD4):c.150A>G (p.Lys50=) rs749503989 0.00001
NM_005359.6(SMAD4):c.1532C>T (p.Pro511Leu) rs773367516 0.00001
NM_005359.6(SMAD4):c.1588C>A (p.His530Asn) rs754393017 0.00001
NM_005359.6(SMAD4):c.1596C>T (p.Ala532=) rs765606080 0.00001
NM_005359.6(SMAD4):c.160T>C (p.Leu54=) rs1053158497 0.00001
NM_005359.6(SMAD4):c.181A>G (p.Ile61Val) rs1064794204 0.00001
NM_005359.6(SMAD4):c.183A>C (p.Ile61=) rs761937143 0.00001
NM_005359.6(SMAD4):c.231A>G (p.Thr77=) rs760990830 0.00001
NM_005359.6(SMAD4):c.249+10A>C rs752243771 0.00001
NM_005359.6(SMAD4):c.249+11T>C rs757997451 0.00001
NM_005359.6(SMAD4):c.249+13_249+14insAT rs1467195416 0.00001
NM_005359.6(SMAD4):c.249+20T>C rs780723246 0.00001
NM_005359.6(SMAD4):c.249+7C>T rs754207663 0.00001
NM_005359.6(SMAD4):c.249+9T>C rs770523387 0.00001
NM_005359.6(SMAD4):c.250-14G>A rs1180310843 0.00001
NM_005359.6(SMAD4):c.276T>C (p.His92=) rs762501162 0.00001
NM_005359.6(SMAD4):c.298A>C (p.Arg100=) rs751154230 0.00001
NM_005359.6(SMAD4):c.325C>T (p.Leu109=) rs1248541873 0.00001
NM_005359.6(SMAD4):c.336T>A (p.Val112=) rs1328102060 0.00001
NM_005359.6(SMAD4):c.366A>G (p.Lys122=) rs1057524633 0.00001
NM_005359.6(SMAD4):c.375T>C (p.Ser125=) rs863224401 0.00001
NM_005359.6(SMAD4):c.387T>C (p.Asn129=) rs150229208 0.00001
NM_005359.6(SMAD4):c.38A>G (p.Asn13Ser) rs281875323 0.00001
NM_005359.6(SMAD4):c.390A>G (p.Pro130=) rs755862230 0.00001
NM_005359.6(SMAD4):c.399C>T (p.Tyr133=) rs779069779 0.00001
NM_005359.6(SMAD4):c.400G>A (p.Glu134Lys) rs748395067 0.00001
NM_005359.6(SMAD4):c.408T>C (p.Val136=) rs1283790116 0.00001
NM_005359.6(SMAD4):c.414A>T (p.Ser138=) rs1446170654 0.00001
NM_005359.6(SMAD4):c.424+19C>A rs1004249434 0.00001
NM_005359.6(SMAD4):c.424+6T>C rs771456293 0.00001
NM_005359.6(SMAD4):c.43G>A (p.Ala15Thr) rs1909566748 0.00001
NM_005359.6(SMAD4):c.449G>A (p.Ser150Asn) rs750355699 0.00001
NM_005359.6(SMAD4):c.454+7A>C rs755891338 0.00001
NM_005359.6(SMAD4):c.454+8A>T rs864622099 0.00001
NM_005359.6(SMAD4):c.457C>T (p.Pro153Ser) rs751763157 0.00001
NM_005359.6(SMAD4):c.470T>C (p.Met157Thr) rs756675590 0.00001
NM_005359.6(SMAD4):c.491A>G (p.His164Arg) rs876660058 0.00001
NM_005359.6(SMAD4):c.510A>G (p.Pro170=) rs144226135 0.00001
NM_005359.6(SMAD4):c.519C>T (p.Ser173=) rs778576111 0.00001
NM_005359.6(SMAD4):c.525A>G (p.Glu175=) rs368528856 0.00001
NM_005359.6(SMAD4):c.535A>G (p.Ile179Val) rs542392980 0.00001
NM_005359.6(SMAD4):c.554C>T (p.Pro185Leu) rs770798845 0.00001
NM_005359.6(SMAD4):c.566G>A (p.Arg189His) rs759288477 0.00001
NM_005359.6(SMAD4):c.572C>T (p.Ser191Leu) rs752575871 0.00001
NM_005359.6(SMAD4):c.580A>G (p.Thr194Ala) rs1432058632 0.00001
NM_005359.6(SMAD4):c.594A>C (p.Pro198=) rs547278031 0.00001
NM_005359.6(SMAD4):c.622G>A (p.Ala208Thr) rs1046411210 0.00001
NM_005359.6(SMAD4):c.638A>G (p.Asn213Ser) rs757977781 0.00001
NM_005359.6(SMAD4):c.642T>C (p.Phe214=) rs1281575334 0.00001
NM_005359.6(SMAD4):c.644C>G (p.Pro215Arg) rs777495692 0.00001
NM_005359.6(SMAD4):c.652C>A (p.Pro218Thr) rs1345146274 0.00001
NM_005359.6(SMAD4):c.667+3G>A rs757971589 0.00001
NM_005359.6(SMAD4):c.667+6T>C rs1060500745 0.00001
NM_005359.6(SMAD4):c.668-11T>G rs1469889617 0.00001
NM_005359.6(SMAD4):c.668-15T>G rs1378869804 0.00001
NM_005359.6(SMAD4):c.668-6C>G rs748992694 0.00001
NM_005359.6(SMAD4):c.668-7C>T rs1060504028 0.00001
NM_005359.6(SMAD4):c.671A>T (p.Gln224Leu) rs587780793 0.00001
NM_005359.6(SMAD4):c.672G>A (p.Gln224=) rs1397172791 0.00001
NM_005359.6(SMAD4):c.677C>T (p.Ala226Val) rs539739051 0.00001
NM_005359.6(SMAD4):c.679A>G (p.Ser227Gly) rs1443767329 0.00001
NM_005359.6(SMAD4):c.682A>G (p.Ile228Val) rs1280682459 0.00001
NM_005359.6(SMAD4):c.693C>T (p.Gly231=) rs765597059 0.00001
NM_005359.6(SMAD4):c.698A>G (p.His233Arg) rs1555685910 0.00001
NM_005359.6(SMAD4):c.70A>G (p.Met24Val) rs876659391 0.00001
NM_005359.6(SMAD4):c.736C>A (p.Pro246Thr) rs876659967 0.00001
NM_005359.6(SMAD4):c.743A>T (p.Gln248Leu) rs751985298 0.00001
NM_005359.6(SMAD4):c.768G>A (p.Gln256=) rs755677513 0.00001
NM_005359.6(SMAD4):c.787+18A>G rs748015964 0.00001
NM_005359.6(SMAD4):c.787+20A>C rs367791493 0.00001
NM_005359.6(SMAD4):c.787+7A>G rs779803439 0.00001
NM_005359.6(SMAD4):c.788-10T>C rs1291526848 0.00001
NM_005359.6(SMAD4):c.789C>T (p.Asn263=) rs763510526 0.00001
NM_005359.6(SMAD4):c.827A>T (p.Tyr276Phe) rs1229812463 0.00001
NM_005359.6(SMAD4):c.832C>A (p.Pro278Thr) rs1257577085 0.00001
NM_005359.6(SMAD4):c.855C>T (p.Asn285=) rs1187796771 0.00001
NM_005359.6(SMAD4):c.856G>A (p.Gly286Ser) rs750111831 0.00001
NM_005359.6(SMAD4):c.870C>T (p.His290=) rs1060504029 0.00001
NM_005359.6(SMAD4):c.875C>T (p.Pro292Leu) rs786201404 0.00001
NM_005359.6(SMAD4):c.876G>A (p.Pro292=) rs753358186 0.00001
NM_005359.6(SMAD4):c.885G>A (p.Pro295=) rs772028872 0.00001
NM_005359.6(SMAD4):c.887C>T (p.Pro296Leu) rs1417632301 0.00001
NM_005359.6(SMAD4):c.888C>G (p.Pro296=) rs1060504026 0.00001
NM_005359.6(SMAD4):c.894C>T (p.Pro298=) rs781519690 0.00001
NM_005359.6(SMAD4):c.903C>T (p.Tyr301=) rs746084369 0.00001
NM_005359.6(SMAD4):c.904+11G>A rs769952679 0.00001
NM_005359.6(SMAD4):c.904+7T>G rs1207550894 0.00001
NM_005359.6(SMAD4):c.905-3T>C rs746836038 0.00001
NM_005359.6(SMAD4):c.905-8T>C rs1249416688 0.00001
NM_005359.6(SMAD4):c.917A>G (p.Asn306Ser) rs730881953 0.00001
NM_005359.6(SMAD4):c.932A>G (p.Gln311Arg) rs1381679797 0.00001
NM_005359.6(SMAD4):c.940A>G (p.Ile314Val) rs748622028 0.00001
NM_005359.6(SMAD4):c.945C>T (p.Ser315=) rs1408798906 0.00001
NM_005359.6(SMAD4):c.955+14A>C rs1322236124 0.00001
NM_005359.6(SMAD4):c.955+15A>G rs185228929 0.00001
NM_005359.6(SMAD4):c.955+18T>C rs577685240 0.00001
NM_005359.6(SMAD4):c.955+7G>A rs200386455 0.00001
NM_005359.6(SMAD4):c.956-17C>T rs1315017766 0.00001
NM_005359.6(SMAD4):c.956-19T>C rs1203972910 0.00001
NM_005359.6(SMAD4):c.956-4A>G rs1295343500 0.00001
NM_005359.6(SMAD4):c.956-7C>A rs778959035 0.00001
NM_005359.6(SMAD4):c.960T>C (p.Pro320=) rs1568208159 0.00001
NM_005359.6(SMAD4):c.975C>T (p.Ser325=) rs1228827259 0.00001
NC_000010.10:g.(?_88441193)_(88722432_?)del
NC_000010.10:g.(?_88514773)_(88598738_?)dup
NC_000010.10:g.(?_88516246)_(88528678_?)del
NC_000010.10:g.(?_88598623)_(88603267_?)dup
NC_000010.10:g.(?_88598623)_(88635852_?)del
NC_000010.10:g.(?_88598623)_(88649987_?)dup
NC_000010.10:g.(?_88598623)_(88659889_?)del
NC_000010.10:g.(?_88598623)_(88659893_?)dup
NC_000010.10:g.(?_88603164)_(88651992_?)dup
NC_000010.10:g.(?_88635625)_(88651996_?)dup
NC_000010.10:g.(?_88635625)_(88683476_?)dup
NC_000010.10:g.(?_88649809)_(89725239_?)del
NC_000010.10:g.(?_88651874)_(88651996_?)del
NC_000010.10:g.(?_88659541)_(88659893_?)del
NC_000010.10:g.(?_88659541)_(88683476_?)dup
NC_000010.10:g.(?_88669791)_88681457del
NC_000010.10:g.(?_88671987)_(88672151_?)del
NC_000010.10:g.(?_88671987)_(88683476_?)del
NC_000010.10:g.(?_88676881)_(88679236_?)del
NC_000010.10:g.(?_88676881)_(88683476_?)del
NC_000010.10:g.(?_88676881)_(88683476_?)dup
NC_000010.10:g.(?_88678919)_(88679236_?)del
NC_000010.10:g.(?_88681437)_(88682621_?)del
NC_000010.10:g.(?_88683123)_(88683476_?)del
NC_000010.10:g.(?_88683123)_(89725321_?)del
NC_000010.11:g.(?_86755016)_(86756919_?)del
NC_000010.11:g.(?_86755016)_(86756919_?)dup
NC_000010.11:g.(?_86755016)_(86757045_?)del
NC_000010.11:g.(?_86755016)_(86923719_?)del
NC_000010.11:g.(?_86755016)_(86923719_?)dup
NC_000010.11:g.(?_86838866)_(86838981_?)del
NC_000010.11:g.(?_86838866)_(86843510_?)del
NC_000010.11:g.(?_86838866)_(86923719_?)dup
NC_000010.11:g.(?_86875868)_(86876095_?)del
NC_000010.11:g.(?_86876009)_(86923729_?)del
NC_000010.11:g.(?_86912230)_(86917336_?)del
NC_000010.11:g.(?_86912230)_(86919479_?)del
NC_000018.10:g.(?_51030213)_(51030623_?)del
NC_000018.10:g.(?_51030213)_(51078467_?)del
NC_000018.10:g.(?_51030213)_(51078467_?)dup
NC_000018.10:g.(?_51065417)_(51067193_?)del
NC_000018.10:g.51078424_51078439delinsCA rs1568211617
NC_000018.9:g.(?_48556583)_(48556993_?)dup
NC_000018.9:g.(?_48556583)_(48593567_?)del
NC_000018.9:g.(?_48556583)_(48603156_?)dup
NC_000018.9:g.(?_48556583)_(48604847_?)dup
NC_000018.9:g.(?_48565515)_(48591839_?)del
NC_000018.9:g.(?_48573290)_(48573685_?)dup
NC_000018.9:g.(?_48573290)_(48575704_?)del
NC_000018.9:g.(?_48573397)_(48573685_?)dup
NC_000018.9:g.(?_48573407)_(48573675_?)dup
NC_000018.9:g.(?_48573411)_(48604842_?)dup
NC_000018.9:g.(?_48591773)_(48604837_?)dup
NC_000018.9:g.(?_48591783)_(48591986_?)del
NC_000018.9:g.(?_48591783)_(48593567_?)del
NC_000018.9:g.(?_48593383)_(48604842_?)del
NC_000018.9:g.(?_48602988)_(48604837_?)del
NC_000018.9:g.(?_48602998)_(48604837_?)del
NC_000018.9:g.(?_48603002)_(48604843_?)dup
NC_000018.9:g.(?_48604616)_(48604837_?)del
NC_000018.9:g.(?_48604616)_(48604837_?)dup
NC_000018.9:g.(?_48604616)_(48604847_?)dup
NM_004329.2(BMPR1A):c.676_681delGTTCAG
NM_004329.2(BMPR1A):c.676delG rs1064796072
NM_004329.3(BMPR1A):c.-1_2del (p.Met1del) rs1589757037
NM_004329.3(BMPR1A):c.-268+37418C>T
NM_004329.3(BMPR1A):c.1000T>C (p.Leu334=) rs749873461
NM_004329.3(BMPR1A):c.1006T>C (p.Tyr336His) rs876658840
NM_004329.3(BMPR1A):c.100G>A (p.Gly34Arg) rs1589763328
NM_004329.3(BMPR1A):c.100G>T (p.Gly34Trp) rs1589763328
NM_004329.3(BMPR1A):c.1010C>A (p.Ser337Ter) rs1554891075
NM_004329.3(BMPR1A):c.1011A>G (p.Ser337=)
NM_004329.3(BMPR1A):c.1012G>T (p.Ala338Ser) rs1564724239
NM_004329.3(BMPR1A):c.1015G>A (p.Ala339Thr) rs758432395
NM_004329.3(BMPR1A):c.1019del (p.Cys340fs)
NM_004329.3(BMPR1A):c.101G>C (p.Gly34Ala) rs730881430
NM_004329.3(BMPR1A):c.1021G>A (p.Gly341Ser) rs1554891077
NM_004329.3(BMPR1A):c.1022G>C (p.Gly341Ala) rs1564724250
NM_004329.3(BMPR1A):c.1022G>T (p.Gly341Val) rs1564724250
NM_004329.3(BMPR1A):c.1022del (p.Gly341fs) rs2133591810
NM_004329.3(BMPR1A):c.1023T>C (p.Gly341=) rs2133591869
NM_004329.3(BMPR1A):c.1023T>G (p.Gly341=) rs2133591869
NM_004329.3(BMPR1A):c.1026G>C (p.Leu342=) rs768598838
NM_004329.3(BMPR1A):c.1026G>T (p.Leu342=) rs768598838
NM_004329.3(BMPR1A):c.1029C>T (p.Cys343=) rs2133591953
NM_004329.3(BMPR1A):c.102G>A (p.Gly34=) rs876659958
NM_004329.3(BMPR1A):c.1031A>G (p.His344Arg) rs1843626230
NM_004329.3(BMPR1A):c.1032C>T (p.His344=) rs1589291699
NM_004329.3(BMPR1A):c.1035G>A (p.Leu345=) rs2133592024
NM_004329.3(BMPR1A):c.1039A>G (p.Thr347Ala) rs1589291709
NM_004329.3(BMPR1A):c.103A>G (p.Met35Val) rs1043850286
NM_004329.3(BMPR1A):c.1041A>T (p.Thr347=)
NM_004329.3(BMPR1A):c.1042G>C (p.Glu348Gln) rs1060503398
NM_004329.3(BMPR1A):c.1044A>G (p.Glu348=) rs781082609
NM_004329.3(BMPR1A):c.1044A>T (p.Glu348Asp) rs781082609
NM_004329.3(BMPR1A):c.1047T>C (p.Ile349=) rs2133592176
NM_004329.3(BMPR1A):c.1049A>G (p.Tyr350Cys) rs1589291722
NM_004329.3(BMPR1A):c.1049A>T (p.Tyr350Phe) rs1589291722
NM_004329.3(BMPR1A):c.104T>A (p.Met35Lys) rs2133394661
NM_004329.3(BMPR1A):c.104T>C (p.Met35Thr) rs2133394661
NM_004329.3(BMPR1A):c.104T>G (p.Met35Arg)
NM_004329.3(BMPR1A):c.1050T>C (p.Tyr350=) rs2133592293
NM_004329.3(BMPR1A):c.1053C>T (p.Gly351=) rs1554891081
NM_004329.3(BMPR1A):c.1056C>A (p.Thr352=)
NM_004329.3(BMPR1A):c.1056C>T (p.Thr352=) rs771026490
NM_004329.3(BMPR1A):c.1057C>T (p.Gln353Ter) rs2133592454
NM_004329.3(BMPR1A):c.1061G>A (p.Gly354Glu)
NM_004329.3(BMPR1A):c.1062A>G (p.Gly354=)
NM_004329.3(BMPR1A):c.1064del (p.Lys355fs) rs2133592586
NM_004329.3(BMPR1A):c.1066C>A (p.Pro356Thr) rs774555805
NM_004329.3(BMPR1A):c.1067C>G (p.Pro356Arg) rs1589291749
NM_004329.3(BMPR1A):c.1069G>C (p.Ala357Pro) rs201509164
NM_004329.3(BMPR1A):c.1072A>G (p.Ile358Val) rs2133592838
NM_004329.3(BMPR1A):c.1075G>A (p.Ala359Thr)
NM_004329.3(BMPR1A):c.1076C>T (p.Ala359Val) rs1843627289
NM_004329.3(BMPR1A):c.1077T>C (p.Ala359=) rs761131818
NM_004329.3(BMPR1A):c.1079_1081del (p.His360del)
NM_004329.3(BMPR1A):c.107A>C (p.Lys36Thr) rs1564714779
NM_004329.3(BMPR1A):c.1080T>C (p.His360=) rs2133592946
NM_004329.3(BMPR1A):c.1082G>A (p.Arg361Gln) rs730881436
NM_004329.3(BMPR1A):c.1084G>A (p.Asp362Asn) rs1564724297
NM_004329.3(BMPR1A):c.1084G>C (p.Asp362His)
NM_004329.3(BMPR1A):c.1087C>G (p.Leu363Val)
NM_004329.3(BMPR1A):c.1088T>C (p.Leu363Pro)
NM_004329.3(BMPR1A):c.1089A>C (p.Leu363=) rs863224393
NM_004329.3(BMPR1A):c.1089A>T (p.Leu363=)
NM_004329.3(BMPR1A):c.1094G>A (p.Ser365Asn) rs1843627623
NM_004329.3(BMPR1A):c.1096A>C (p.Lys366Gln) rs1589291778
NM_004329.3(BMPR1A):c.1097A>G (p.Lys366Arg) rs1564724310
NM_004329.3(BMPR1A):c.1098A>C (p.Lys366Asn) rs1060503397
NM_004329.3(BMPR1A):c.10C>T (p.Leu4=) rs2133321068
NM_004329.3(BMPR1A):c.1100del (p.Asn367fs) rs1843627734
NM_004329.3(BMPR1A):c.1101C>T (p.Asn367=) rs863224394
NM_004329.3(BMPR1A):c.1101_1102dup (p.Ile368fs) rs2133593245
NM_004329.3(BMPR1A):c.1102A>G (p.Ile368Val) rs1589291789
NM_004329.3(BMPR1A):c.1102A>T (p.Ile368Phe) rs1589291789
NM_004329.3(BMPR1A):c.1104C>T (p.Ile368=) rs1060504911
NM_004329.3(BMPR1A):c.1105C>A (p.Leu369Ile) rs1843628076
NM_004329.3(BMPR1A):c.1105C>T (p.Leu369Phe) rs1843628076
NM_004329.3(BMPR1A):c.1107C>G (p.Leu369=)
NM_004329.3(BMPR1A):c.1107C>T (p.Leu369=) rs761569881
NM_004329.3(BMPR1A):c.1116A>C (p.Lys372Asn) rs2133593509
NM_004329.3(BMPR1A):c.1117A>G (p.Asn373Asp)
NM_004329.3(BMPR1A):c.1118A>G (p.Asn373Ser) rs1281108621
NM_004329.3(BMPR1A):c.1119T>C (p.Asn373=) rs1224219121
NM_004329.3(BMPR1A):c.1119dup (p.Gly374fs) rs2133593569
NM_004329.3(BMPR1A):c.111A>T (p.Ser37=) rs2133394747
NM_004329.3(BMPR1A):c.111delinsCCATGGCACTGGGAT (p.Asp38fs)
NM_004329.3(BMPR1A):c.111dup (p.Asp38fs)
NM_004329.3(BMPR1A):c.1120G>T (p.Gly374Trp) rs2133593589
NM_004329.3(BMPR1A):c.1122G>A (p.Gly374=) rs1589291806
NM_004329.3(BMPR1A):c.1127dup (p.Cys376fs)
NM_004329.3(BMPR1A):c.112G>C (p.Asp38His) rs1554888103
NM_004329.3(BMPR1A):c.112G>T (p.Asp38Tyr)
NM_004329.3(BMPR1A):c.1131C>T (p.Cys377=)
NM_004329.3(BMPR1A):c.1131_1153dup (p.Val385fs) rs1843628465
NM_004329.3(BMPR1A):c.1131del (p.Cys376_Cys377insTer)
NM_004329.3(BMPR1A):c.1132A>G (p.Ile378Val)
NM_004329.3(BMPR1A):c.1132_1133insCCTGGAG (p.Ile378fs)
NM_004329.3(BMPR1A):c.1138G>C (p.Asp380His)
NM_004329.3(BMPR1A):c.1138G>T (p.Asp380Tyr)
NM_004329.3(BMPR1A):c.1141C>G (p.Leu381Val) rs864622566
NM_004329.3(BMPR1A):c.1141C>T (p.Leu381=) rs864622566
NM_004329.3(BMPR1A):c.1144G>A (p.Gly382Ser)
NM_004329.3(BMPR1A):c.1144G>T (p.Gly382Cys)
NM_004329.3(BMPR1A):c.1146C>G (p.Gly382=) rs786203626
NM_004329.3(BMPR1A):c.1147C>T (p.Leu383Phe) rs1843628800
NM_004329.3(BMPR1A):c.1148T>G (p.Leu383Arg) rs2133594103
NM_004329.3(BMPR1A):c.114C>G (p.Asp38Glu) rs1021443408
NM_004329.3(BMPR1A):c.1150G>A (p.Ala384Thr)
NM_004329.3(BMPR1A):c.1150G>T (p.Ala384Ser) rs1843628839
NM_004329.3(BMPR1A):c.1151C>T (p.Ala384Val)
NM_004329.3(BMPR1A):c.1151dup (p.Val385fs) rs2133594187
NM_004329.3(BMPR1A):c.1152del (p.Val385fs) rs1843628914
NM_004329.3(BMPR1A):c.1155T>A (p.Val385=)
NM_004329.3(BMPR1A):c.1157A>C (p.Lys386Thr) rs2133594262
NM_004329.3(BMPR1A):c.1158A>G (p.Lys386=)
NM_004329.3(BMPR1A):c.1163A>G (p.Asn388Ser)
NM_004329.3(BMPR1A):c.1163A>T (p.Asn388Ile) rs1843628997
NM_004329.3(BMPR1A):c.1166+10_1166+11insGA
NM_004329.3(BMPR1A):c.1166+11C>A
NM_004329.3(BMPR1A):c.1166+11C>G
NM_004329.3(BMPR1A):c.1166+11C>T rs2133594480
NM_004329.3(BMPR1A):c.1166+11del rs2133594492
NM_004329.3(BMPR1A):c.1166+16C>A rs779667550
NM_004329.3(BMPR1A):c.1166+16C>T rs779667550
NM_004329.3(BMPR1A):c.1166+17C>T rs1554891123
NM_004329.3(BMPR1A):c.1166+18C>T rs2133594586
NM_004329.3(BMPR1A):c.1166+19C>T rs1057522268
NM_004329.3(BMPR1A):c.1166+1G>A rs2133594398
NM_004329.3(BMPR1A):c.1166+20A>G
NM_004329.3(BMPR1A):c.1166+2dup
NM_004329.3(BMPR1A):c.1166+3G>A
NM_004329.3(BMPR1A):c.1166+3G>C
NM_004329.3(BMPR1A):c.1166+3del
NM_004329.3(BMPR1A):c.1166+4A>G
NM_004329.3(BMPR1A):c.1166+5G>A rs1843629187
NM_004329.3(BMPR1A):c.1166+5G>T rs1843629187
NM_004329.3(BMPR1A):c.1166+7G>C rs2133594453
NM_004329.3(BMPR1A):c.1166+8G>C rs2133594465
NM_004329.3(BMPR1A):c.1166+8G>T rs2133594465
NM_004329.3(BMPR1A):c.1166+8del
NM_004329.3(BMPR1A):c.1166+9T>C
NM_004329.3(BMPR1A):c.1166G>A (p.Ser389Asn) rs879254049
NM_004329.3(BMPR1A):c.1167-10T>C
NM_004329.3(BMPR1A):c.1167-11_1167-8del rs1554891308
NM_004329.3(BMPR1A):c.1167-12del rs763184992
NM_004329.3(BMPR1A):c.1167-16C>G
NM_004329.3(BMPR1A):c.1167-19T>C
NM_004329.3(BMPR1A):c.1167-2A>G rs1843664505
NM_004329.3(BMPR1A):c.1167-3C>A
NM_004329.3(BMPR1A):c.1167-4T>A rs2133605569
NM_004329.3(BMPR1A):c.1167-8T>G rs1589292550
NM_004329.3(BMPR1A):c.1167T>G (p.Ser389Arg) rs1564724948
NM_004329.3(BMPR1A):c.1169A>T (p.Asp390Val)
NM_004329.3(BMPR1A):c.116C>T (p.Ser39Phe) rs876658859
NM_004329.3(BMPR1A):c.1171A>T (p.Thr391Ser) rs1554891310
NM_004329.3(BMPR1A):c.1171dup (p.Thr391fs)
NM_004329.3(BMPR1A):c.1172C>G (p.Thr391Arg) rs1589292560
NM_004329.3(BMPR1A):c.1172C>T (p.Thr391Ile)
NM_004329.3(BMPR1A):c.1174A>G (p.Asn392Asp) rs1589292564
NM_004329.3(BMPR1A):c.1175A>G (p.Asn392Ser) rs1554891311
NM_004329.3(BMPR1A):c.1176T>C (p.Asn392=) rs1589292569
NM_004329.3(BMPR1A):c.1178A>T (p.Glu393Val) rs1589292573
NM_004329.3(BMPR1A):c.117C>G (p.Ser39=) rs757333646
NM_004329.3(BMPR1A):c.1180G>A (p.Val394Ile)
NM_004329.3(BMPR1A):c.1181T>C (p.Val394Ala) rs2133605898
NM_004329.3(BMPR1A):c.1185T>C (p.Asp395=)
NM_004329.3(BMPR1A):c.1186G>A (p.Val396Met) rs1161972977
NM_004329.3(BMPR1A):c.1188G>A (p.Val396=) rs1843665086
NM_004329.3(BMPR1A):c.1189C>T (p.Pro397Ser) rs1843665120
NM_004329.3(BMPR1A):c.118G>C (p.Asp40His) rs587781556
NM_004329.3(BMPR1A):c.118G>T (p.Asp40Tyr) rs587781556
NM_004329.3(BMPR1A):c.1190C>T (p.Pro397Leu) rs878854662
NM_004329.3(BMPR1A):c.1191C>T (p.Pro397=)
NM_004329.3(BMPR1A):c.1193dup (p.Leu398fs) rs2133606135
NM_004329.3(BMPR1A):c.1194G>A (p.Leu398=)
NM_004329.3(BMPR1A):c.1196A>G (p.Asn399Ser) rs1554891315
NM_004329.3(BMPR1A):c.1199C>A (p.Thr400Asn) rs1554891317
NM_004329.3(BMPR1A):c.1199C>G (p.Thr400Ser) rs1554891317
NM_004329.3(BMPR1A):c.119A>G (p.Asp40Gly) rs1060503403
NM_004329.3(BMPR1A):c.119A>T (p.Asp40Val) rs1060503403
NM_004329.3(BMPR1A):c.1203G>A (p.Arg401=)
NM_004329.3(BMPR1A):c.1210A>C (p.Thr404Pro)
NM_004329.3(BMPR1A):c.1212C>G (p.Thr404=)
NM_004329.3(BMPR1A):c.1214A>G (p.Lys405Arg) rs1064795593
NM_004329.3(BMPR1A):c.1215A>G (p.Lys405=) rs587781522
NM_004329.3(BMPR1A):c.1217G>A (p.Arg406His) rs587780107
NM_004329.3(BMPR1A):c.1217G>T (p.Arg406Leu) rs587780107
NM_004329.3(BMPR1A):c.1218C>A (p.Arg406=)
NM_004329.3(BMPR1A):c.121C>T (p.Gln41Ter)
NM_004329.3(BMPR1A):c.1220A>G (p.Tyr407Cys) rs1554891322
NM_004329.3(BMPR1A):c.1221C>G (p.Tyr407Ter) rs1131691181
NM_004329.3(BMPR1A):c.1222A>C (p.Met408Leu)
NM_004329.3(BMPR1A):c.1223T>A (p.Met408Lys)
NM_004329.3(BMPR1A):c.1224G>A (p.Met408Ile) rs2133606669
NM_004329.3(BMPR1A):c.1224G>T (p.Met408Ile)
NM_004329.3(BMPR1A):c.1225G>A (p.Ala409Thr) rs1554891324
NM_004329.3(BMPR1A):c.1227T>A (p.Ala409=) rs2133606720
NM_004329.3(BMPR1A):c.1227T>C (p.Ala409=)
NM_004329.3(BMPR1A):c.1229C>T (p.Pro410Leu) rs2133606748
NM_004329.3(BMPR1A):c.1230C>G (p.Pro410=) rs200642188
NM_004329.3(BMPR1A):c.1231G>A (p.Glu411Lys) rs786202611
NM_004329.3(BMPR1A):c.1231del (p.Glu411fs)
NM_004329.3(BMPR1A):c.1235T>G (p.Val412Gly) rs576247658
NM_004329.3(BMPR1A):c.1237_1239dup (p.Leu413dup) rs1064795499
NM_004329.3(BMPR1A):c.1239G>A (p.Leu413=)
NM_004329.3(BMPR1A):c.1240G>A (p.Asp414Asn) rs1554891329
NM_004329.3(BMPR1A):c.1240G>T (p.Asp414Tyr) rs1554891329
NM_004329.3(BMPR1A):c.1241A>G (p.Asp414Gly) rs1409093791
NM_004329.3(BMPR1A):c.1242C>G (p.Asp414Glu) rs767296986
NM_004329.3(BMPR1A):c.1245A>C (p.Glu415Asp) rs786204235
NM_004329.3(BMPR1A):c.1246A>G (p.Ser416Gly)
NM_004329.3(BMPR1A):c.1247G>A (p.Ser416Asn) rs1060503395
NM_004329.3(BMPR1A):c.1249C>G (p.Leu417Val) rs1554891334
NM_004329.3(BMPR1A):c.1249C>T (p.Leu417=) rs1554891334
NM_004329.3(BMPR1A):c.124A>G (p.Lys42Glu) rs786203156
NM_004329.3(BMPR1A):c.1251G>A (p.Leu417=) rs1554891336
NM_004329.3(BMPR1A):c.1253A>G (p.Asn418Ser)
NM_004329.3(BMPR1A):c.1254C>G (p.Asn418Lys) rs1843666528
NM_004329.3(BMPR1A):c.1255A>G (p.Lys419Glu)
NM_004329.3(BMPR1A):c.1255A>T (p.Lys419Ter) rs2133607319
NM_004329.3(BMPR1A):c.1260C>A (p.Asn420Lys) rs876660798
NM_004329.3(BMPR1A):c.1261C>A (p.His421Asn) rs1554891338
NM_004329.3(BMPR1A):c.1261C>T (p.His421Tyr) rs1554891338
NM_004329.3(BMPR1A):c.1263C>T (p.His421=) rs1589292651
NM_004329.3(BMPR1A):c.1266C>G (p.Phe422Leu) rs786202823
NM_004329.3(BMPR1A):c.1266C>T (p.Phe422=) rs786202823
NM_004329.3(BMPR1A):c.1267del (p.Gln423fs) rs1589292655
NM_004329.3(BMPR1A):c.1268A>G (p.Gln423Arg) rs2133607541
NM_004329.3(BMPR1A):c.126A>G (p.Lys42=) rs773814289
NM_004329.3(BMPR1A):c.1270C>T (p.Pro424Ser) rs201362537
NM_004329.3(BMPR1A):c.1271C>A (p.Pro424His) rs2133607623
NM_004329.3(BMPR1A):c.1271C>T (p.Pro424Leu)
NM_004329.3(BMPR1A):c.1272C>T (p.Pro424=)
NM_004329.3(BMPR1A):c.1275C>T (p.Tyr425=) rs2133607689
NM_004329.3(BMPR1A):c.1276A>C (p.Ile426Leu) rs780148965
NM_004329.3(BMPR1A):c.1276A>G (p.Ile426Val) rs780148965
NM_004329.3(BMPR1A):c.127_137del (p.Lys43fs) rs2133395056
NM_004329.3(BMPR1A):c.1281G>A (p.Met427Ile) rs769212314
NM_004329.3(BMPR1A):c.1287C>G (p.Asp429Glu) rs777021606
NM_004329.3(BMPR1A):c.1287C>T (p.Asp429=) rs777021606
NM_004329.3(BMPR1A):c.1288A>G (p.Ile430Val) rs1589292679
NM_004329.3(BMPR1A):c.1289T>C (p.Ile430Thr) rs1843667308
NM_004329.3(BMPR1A):c.128A>C (p.Lys43Thr)
NM_004329.3(BMPR1A):c.128A>G (p.Lys43Arg) rs2133395088
NM_004329.3(BMPR1A):c.128_137del (p.Lys43fs)
NM_004329.3(BMPR1A):c.1290C>G (p.Ile430Met)
NM_004329.3(BMPR1A):c.1290C>T (p.Ile430=) rs2133608002
NM_004329.3(BMPR1A):c.1292A>G (p.Tyr431Cys) rs1554891343
NM_004329.3(BMPR1A):c.1293C>T (p.Tyr431=) rs1554891344
NM_004329.3(BMPR1A):c.1298T>G (p.Phe433Cys) rs1843667442
NM_004329.3(BMPR1A):c.1299C>G (p.Phe433Leu)
NM_004329.3(BMPR1A):c.129G>A (p.Lys43=) rs1843126055
NM_004329.3(BMPR1A):c.129G>T (p.Lys43Asn) rs1843126055
NM_004329.3(BMPR1A):c.1300G>T (p.Gly434Cys) rs587780108
NM_004329.3(BMPR1A):c.1305A>G (p.Leu435=) rs2133608266
NM_004329.3(BMPR1A):c.1306A>G (p.Ile436Val) rs863224718
NM_004329.3(BMPR1A):c.1307T>C (p.Ile436Thr)
NM_004329.3(BMPR1A):c.1308C>G (p.Ile436Met)
NM_004329.3(BMPR1A):c.1308C>T (p.Ile436=) rs1554891351
NM_004329.3(BMPR1A):c.130T>C (p.Ser44Pro) rs2133395138
NM_004329.3(BMPR1A):c.1310T>C (p.Ile437Thr) rs2133608360
NM_004329.3(BMPR1A):c.1311T>C (p.Ile437=) rs541331090
NM_004329.3(BMPR1A):c.1313G>T (p.Trp438Leu) rs1589292704
NM_004329.3(BMPR1A):c.1314G>A (p.Trp438Ter) rs1564725052
NM_004329.3(BMPR1A):c.1315G>A (p.Glu439Lys)
NM_004329.3(BMPR1A):c.1317G>A (p.Glu439=)
NM_004329.3(BMPR1A):c.1318A>G (p.Met440Val) rs1327393432
NM_004329.3(BMPR1A):c.1319T>C (p.Met440Thr) rs1843667822
NM_004329.3(BMPR1A):c.1320G>A (p.Met440Ile) rs1554891352
NM_004329.3(BMPR1A):c.1322C>G (p.Ala441Gly) rs1564725059
NM_004329.3(BMPR1A):c.1322C>T (p.Ala441Val) rs1564725059
NM_004329.3(BMPR1A):c.1322dup (p.Arg442fs)
NM_004329.3(BMPR1A):c.1323T>C (p.Ala441=) rs2133608618
NM_004329.3(BMPR1A):c.1324CGT[1] (p.Arg443del) rs864622075
NM_004329.3(BMPR1A):c.1325G>A (p.Arg442His) rs1554891354
NM_004329.3(BMPR1A):c.1328G>A (p.Arg443His) rs876659155
NM_004329.3(BMPR1A):c.132A>C (p.Ser44=) rs1554888111
NM_004329.3(BMPR1A):c.132A>G (p.Ser44=) rs1554888111
NM_004329.3(BMPR1A):c.1330T>C (p.Cys444Arg) rs774061725
NM_004329.3(BMPR1A):c.1330_1332del (p.Cys444del) rs1554891356
NM_004329.3(BMPR1A):c.1331G>A (p.Cys444Tyr)
NM_004329.3(BMPR1A):c.1337C>A (p.Thr446Lys)
NM_004329.3(BMPR1A):c.133G>A (p.Glu45Lys) rs1554888112
NM_004329.3(BMPR1A):c.133_134del (p.Glu45fs) rs1564714804
NM_004329.3(BMPR1A):c.1342+10_1342+11insCCT
NM_004329.3(BMPR1A):c.1342+11G>T rs548013712
NM_004329.3(BMPR1A):c.1342+12A>C rs2133609143
NM_004329.3(BMPR1A):c.1342+14del
NM_004329.3(BMPR1A):c.1342+15A>G rs753601185
NM_004329.3(BMPR1A):c.1342+16G>C
NM_004329.3(BMPR1A):c.1342+18T>G
NM_004329.3(BMPR1A):c.1342+19_1342+30del
NM_004329.3(BMPR1A):c.1342+2T>G rs1589292746
NM_004329.3(BMPR1A):c.1342+3G>A rs2133608987
NM_004329.3(BMPR1A):c.1342+4G>A
NM_004329.3(BMPR1A):c.1342+5G>A rs878854663
NM_004329.3(BMPR1A):c.1342+7G>A rs1057521936
NM_004329.3(BMPR1A):c.1342+8T>A
NM_004329.3(BMPR1A):c.1342G>A (p.Gly448Arg) rs2133608943
NM_004329.3(BMPR1A):c.1343-11_1343-10delinsCC
NM_004329.3(BMPR1A):c.1343-11_1343-10delinsCG
NM_004329.3(BMPR1A):c.1343-12A>C
NM_004329.3(BMPR1A):c.1343-13C>G
NM_004329.3(BMPR1A):c.1343-13C>T rs1843694210
NM_004329.3(BMPR1A):c.1343-19T>C
NM_004329.3(BMPR1A):c.1343-20G>A
NM_004329.3(BMPR1A):c.1343-2A>G rs2133619660
NM_004329.3(BMPR1A):c.1343-4A>G rs876660326
NM_004329.3(BMPR1A):c.1343-5T>C rs1554891558
NM_004329.3(BMPR1A):c.1343-7C>T
NM_004329.3(BMPR1A):c.1343-8C>G
NM_004329.3(BMPR1A):c.1343-8C>T rs188914676
NM_004329.3(BMPR1A):c.1344G>A (p.Gly448=) rs1589293406
NM_004329.3(BMPR1A):c.1344G>T (p.Gly448=)
NM_004329.3(BMPR1A):c.1346T>C (p.Ile449Thr) rs587781884
NM_004329.3(BMPR1A):c.1347C>A (p.Ile449=) rs1057520966
NM_004329.3(BMPR1A):c.1347C>G (p.Ile449Met) rs1057520966
NM_004329.3(BMPR1A):c.1348G>C (p.Val450Leu) rs55932635
NM_004329.3(BMPR1A):c.1348G>T (p.Val450Leu) rs55932635
NM_004329.3(BMPR1A):c.134A>G (p.Glu45Gly) rs1564714807
NM_004329.3(BMPR1A):c.1354G>T (p.Glu452Ter)
NM_004329.3(BMPR1A):c.1355A>T (p.Glu452Val)
NM_004329.3(BMPR1A):c.1357T>C (p.Tyr453His)
NM_004329.3(BMPR1A):c.1360C>T (p.Gln454Ter) rs1554891570
NM_004329.3(BMPR1A):c.1364T>C (p.Leu455Ser) rs1554891572
NM_004329.3(BMPR1A):c.1365G>A (p.Leu455=) rs753694209
NM_004329.3(BMPR1A):c.1365G>C (p.Leu455Phe)
NM_004329.3(BMPR1A):c.1365G>T (p.Leu455Phe) rs753694209
NM_004329.3(BMPR1A):c.1370A>G (p.Tyr457Cys)
NM_004329.3(BMPR1A):c.1372dup (p.Tyr458fs) rs2133620284
NM_004329.3(BMPR1A):c.1373A>G (p.Tyr458Cys) rs1843694986
NM_004329.3(BMPR1A):c.1373A>T (p.Tyr458Phe) rs1843694986
NM_004329.3(BMPR1A):c.1373_1379del (p.Tyr458fs)
NM_004329.3(BMPR1A):c.1374C>A (p.Tyr458Ter) rs1564725603
NM_004329.3(BMPR1A):c.1374C>T (p.Tyr458=)
NM_004329.3(BMPR1A):c.1376A>G (p.Asn459Ser) rs1564725605
NM_004329.3(BMPR1A):c.1377C>T (p.Asn459=)
NM_004329.3(BMPR1A):c.1378A>G (p.Met460Val) rs761612520
NM_004329.3(BMPR1A):c.1380G>A (p.Met460Ile)
NM_004329.3(BMPR1A):c.1380G>C (p.Met460Ile) rs1206243685
NM_004329.3(BMPR1A):c.1381G>A (p.Val461Ile)
NM_004329.3(BMPR1A):c.1385C>G (p.Pro462Arg) rs1418504897
NM_004329.3(BMPR1A):c.1386G>A (p.Pro462=) rs751815388
NM_004329.3(BMPR1A):c.1386G>C (p.Pro462=)
NM_004329.3(BMPR1A):c.1386G>T (p.Pro462=) rs751815388
NM_004329.3(BMPR1A):c.1388G>A (p.Ser463Asn) rs1843695402
NM_004329.3(BMPR1A):c.1388G>C (p.Ser463Thr)
NM_004329.3(BMPR1A):c.1388G>T (p.Ser463Ile)
NM_004329.3(BMPR1A):c.138T>C (p.Asn46=) rs2133395262
NM_004329.3(BMPR1A):c.138T>G (p.Asn46Lys) rs2133395262
NM_004329.3(BMPR1A):c.1394C>T (p.Pro465Leu) rs1843695473
NM_004329.3(BMPR1A):c.1394del (p.Pro465fs)
NM_004329.3(BMPR1A):c.1395G>A (p.Pro465=) rs55845713
NM_004329.3(BMPR1A):c.1396T>C (p.Ser466Pro)
NM_004329.3(BMPR1A):c.1397C>T (p.Ser466Leu) rs1843695578
NM_004329.3(BMPR1A):c.1398A>G (p.Ser466=) rs56410735
NM_004329.3(BMPR1A):c.1399T>C (p.Tyr467His)
NM_004329.3(BMPR1A):c.139G>T (p.Gly47Ter) rs1564714809
NM_004329.3(BMPR1A):c.1400A>T (p.Tyr467Phe)
NM_004329.3(BMPR1A):c.1402G>C (p.Glu468Gln) rs199907158
NM_004329.3(BMPR1A):c.1404A>T (p.Glu468Asp) rs1843695825
NM_004329.3(BMPR1A):c.1408A>G (p.Met470Val)
NM_004329.3(BMPR1A):c.1409T>C (p.Met470Thr) rs199476089
NM_004329.3(BMPR1A):c.140G>T (p.Gly47Val) rs368595543
NM_004329.3(BMPR1A):c.1410G>A (p.Met470Ile) rs749743579
NM_004329.3(BMPR1A):c.1410G>C (p.Met470Ile) rs749743579
NM_004329.3(BMPR1A):c.1412G>C (p.Arg471Pro)
NM_004329.3(BMPR1A):c.1412G>T (p.Arg471Leu) rs779371501
NM_004329.3(BMPR1A):c.1416G>A (p.Glu472=)
NM_004329.3(BMPR1A):c.1418T>C (p.Val473Ala)
NM_004329.3(BMPR1A):c.141A>G (p.Gly47=)
NM_004329.3(BMPR1A):c.1420G>A (p.Val474Met)
NM_004329.3(BMPR1A):c.1420G>T (p.Val474Leu) rs567733221
NM_004329.3(BMPR1A):c.1421T>C (p.Val474Ala)
NM_004329.3(BMPR1A):c.1421dup (p.Cys475fs)
NM_004329.3(BMPR1A):c.1422G>T (p.Val474=) rs760220938
NM_004329.3(BMPR1A):c.1424G>A (p.Cys475Tyr) rs1843696315
NM_004329.3(BMPR1A):c.1424G>C (p.Cys475Ser) rs1843696315
NM_004329.3(BMPR1A):c.1426G>A (p.Val476Ile) rs2133621480
NM_004329.3(BMPR1A):c.1428C>A (p.Val476=) rs1589293466
NM_004329.3(BMPR1A):c.1429A>G (p.Lys477Glu) rs2133621539
NM_004329.3(BMPR1A):c.142G>A (p.Val48Ile)
NM_004329.3(BMPR1A):c.1430A>C (p.Lys477Thr)
NM_004329.3(BMPR1A):c.1430A>T (p.Lys477Ile) rs767995260
NM_004329.3(BMPR1A):c.1433G>T (p.Arg478Leu) rs113849804
NM_004329.3(BMPR1A):c.1434T>A (p.Arg478=) rs1057521680
NM_004329.3(BMPR1A):c.1435T>C (p.Leu479=) rs1564725667
NM_004329.3(BMPR1A):c.1438C>A (p.Arg480=) rs876658515
NM_004329.3(BMPR1A):c.1438C>T (p.Arg480Trp) rs876658515
NM_004329.3(BMPR1A):c.1439G>A (p.Arg480Gln) rs535109719
NM_004329.3(BMPR1A):c.1439G>T (p.Arg480Leu) rs535109719
NM_004329.3(BMPR1A):c.1440G>C (p.Arg480=)
NM_004329.3(BMPR1A):c.1443A>C (p.Pro481=)
NM_004329.3(BMPR1A):c.1445T>C (p.Ile482Thr)
NM_004329.3(BMPR1A):c.1446T>C (p.Ile482=)
NM_004329.3(BMPR1A):c.1447G>A (p.Val483Met) rs1163897191
NM_004329.3(BMPR1A):c.1448T>C (p.Val483Ala) rs1843696769
NM_004329.3(BMPR1A):c.1448_1456del (p.Val483_Arg486delinsGly)
NM_004329.3(BMPR1A):c.1449G>T (p.Val483=) rs759740989
NM_004329.3(BMPR1A):c.1450T>A (p.Ser484Thr) rs1554891611
NM_004329.3(BMPR1A):c.1450T>C (p.Ser484Pro) rs1554891611
NM_004329.3(BMPR1A):c.1453A>C (p.Asn485His) rs1589293506
NM_004329.3(BMPR1A):c.1457G>A (p.Arg486Gln) rs752802257
NM_004329.3(BMPR1A):c.1457G>T (p.Arg486Leu)
NM_004329.3(BMPR1A):c.1458G>A (p.Arg486=) rs1355650385
NM_004329.3(BMPR1A):c.1459T>A (p.Trp487Arg) rs112883778
NM_004329.3(BMPR1A):c.1461G>A (p.Trp487Ter) rs2133622305
NM_004329.3(BMPR1A):c.1464C>G (p.Asn488Lys)
NM_004329.3(BMPR1A):c.1465A>G (p.Ser489Gly) rs1843697142
NM_004329.3(BMPR1A):c.1466G>C (p.Ser489Thr) rs1554891617
NM_004329.3(BMPR1A):c.1467TGA[1] (p.Asp490del) rs1554891618
NM_004329.3(BMPR1A):c.1469A>G (p.Asp490Gly) rs756222157
NM_004329.3(BMPR1A):c.146C>T (p.Thr49Ile) rs1589763385
NM_004329.3(BMPR1A):c.1470T>C (p.Asp490=) rs1589293526
NM_004329.3(BMPR1A):c.1471G>A (p.Glu491Lys) rs1329735599
NM_004329.3(BMPR1A):c.1473+10A>T
NM_004329.3(BMPR1A):c.1473+12T>C
NM_004329.3(BMPR1A):c.1473+13C>G
NM_004329.3(BMPR1A):c.1473+13C>T rs1453637850
NM_004329.3(BMPR1A):c.1473+13del
NM_004329.3(BMPR1A):c.1473+15G>A rs1564725733
NM_004329.3(BMPR1A):c.1473+16T>C rs1564725734
NM_004329.3(BMPR1A):c.1473+17C>G rs1211823741
NM_004329.3(BMPR1A):c.1473+1G>A rs1589293533
NM_004329.3(BMPR1A):c.1473+1G>C
NM_004329.3(BMPR1A):c.1473+2T>C rs1843697382
NM_004329.3(BMPR1A):c.1473+3G>A rs1589293539
NM_004329.3(BMPR1A):c.1473+5G>A
NM_004329.3(BMPR1A):c.1473+6T>C rs1554891619
NM_004329.3(BMPR1A):c.1473+6_1473+10dup
NM_004329.3(BMPR1A):c.1473+6dup rs1437595171
NM_004329.3(BMPR1A):c.1473+7G>A
NM_004329.3(BMPR1A):c.1473+7G>T rs2133622731
NM_004329.3(BMPR1A):c.1473+8G>A
NM_004329.3(BMPR1A):c.1473A>G (p.Glu491=) rs557832530
NM_004329.3(BMPR1A):c.1474-11_1474-10del rs1447308562
NM_004329.3(BMPR1A):c.1474-13C>A
NM_004329.3(BMPR1A):c.1474-15C>G rs772872981
NM_004329.3(BMPR1A):c.1474-16T>A rs2133623558
NM_004329.3(BMPR1A):c.1474-17A>G
NM_004329.3(BMPR1A):c.1474-18C>A
NM_004329.3(BMPR1A):c.1474-18C>T
NM_004329.3(BMPR1A):c.1474-20A>G rs2133623500
NM_004329.3(BMPR1A):c.1474-3C>A rs1554891636
NM_004329.3(BMPR1A):c.1474-4dup
NM_004329.3(BMPR1A):c.1474-7T>C rs1060504901
NM_004329.3(BMPR1A):c.1474-8C>A
NM_004329.3(BMPR1A):c.1474-9_1474-5del rs2133623605
NM_004329.3(BMPR1A):c.1477C>T (p.Leu493=) rs2133623926
NM_004329.3(BMPR1A):c.1479A>T (p.Leu493=)
NM_004329.3(BMPR1A):c.1480C>A (p.Arg494=)
NM_004329.3(BMPR1A):c.1480C>G (p.Arg494Gly)
NM_004329.3(BMPR1A):c.1480C>T (p.Arg494Ter) rs786201040
NM_004329.3(BMPR1A):c.1485A>C (p.Ala495=) rs2133624106
NM_004329.3(BMPR1A):c.1486G>A (p.Val496Ile) rs753939029
NM_004329.3(BMPR1A):c.148T>C (p.Leu50=) rs964544915
NM_004329.3(BMPR1A):c.148T>G (p.Leu50Val)
NM_004329.3(BMPR1A):c.1491G>C (p.Leu497Phe) rs1554891647
NM_004329.3(BMPR1A):c.1491G>T (p.Leu497Phe)
NM_004329.3(BMPR1A):c.1493A>G (p.Lys498Arg) rs2133624180
NM_004329.3(BMPR1A):c.1494G>C (p.Lys498Asn) rs1843699220
NM_004329.3(BMPR1A):c.149T>C (p.Leu50Ser)
NM_004329.3(BMPR1A):c.1500G>A (p.Met500Ile)
NM_004329.3(BMPR1A):c.1501T>G (p.Ser501Ala) rs1564725794
NM_004329.3(BMPR1A):c.1505A>C (p.Glu502Ala) rs112603659
NM_004329.3(BMPR1A):c.1507T>A (p.Cys503Ser) rs1554891650
NM_004329.3(BMPR1A):c.1509C>T (p.Cys503=)
NM_004329.3(BMPR1A):c.1511G>A (p.Trp504Ter) rs878854664
NM_004329.3(BMPR1A):c.1511G>C (p.Trp504Ser)
NM_004329.3(BMPR1A):c.1515C>A (p.Ala505=) rs1589293633
NM_004329.3(BMPR1A):c.1515C>G (p.Ala505=)
NM_004329.3(BMPR1A):c.1516C>T (p.His506Tyr)
NM_004329.3(BMPR1A):c.151G>A (p.Ala51Thr) rs1554888117
NM_004329.3(BMPR1A):c.1521T>A (p.Asn507Lys)
NM_004329.3(BMPR1A):c.1524A>C (p.Pro508=)
NM_004329.3(BMPR1A):c.1525G>T (p.Ala509Ser) rs1564725805
NM_004329.3(BMPR1A):c.152C>T (p.Ala51Val)
NM_004329.3(BMPR1A):c.1533A>C (p.Arg511Ser) rs730881437
NM_004329.3(BMPR1A):c.1533A>T (p.Arg511Ser)
NM_004329.3(BMPR1A):c.1534C>T (p.Leu512Phe) rs1554891661
NM_004329.3(BMPR1A):c.1535T>A (p.Leu512His)
NM_004329.3(BMPR1A):c.1536C>A (p.Leu512=) rs758796892
NM_004329.3(BMPR1A):c.1537A>G (p.Thr513Ala)
NM_004329.3(BMPR1A):c.1538_1539insCCAC (p.Ala514fs)
NM_004329.3(BMPR1A):c.1539A>G (p.Thr513=)
NM_004329.3(BMPR1A):c.1539A>T (p.Thr513=) rs780244868
NM_004329.3(BMPR1A):c.153A>C (p.Ala51=)
NM_004329.3(BMPR1A):c.153A>G (p.Ala51=)
NM_004329.3(BMPR1A):c.1542A>G (p.Ala514=) rs1589293655
NM_004329.3(BMPR1A):c.1545G>A (p.Leu515=)
NM_004329.3(BMPR1A):c.1550T>C (p.Ile517Thr) rs1554891667
NM_004329.3(BMPR1A):c.1550T>G (p.Ile517Ser) rs1554891667
NM_004329.3(BMPR1A):c.1551T>A (p.Ile517=) rs1471929511
NM_004329.3(BMPR1A):c.1551T>G (p.Ile517Met)
NM_004329.3(BMPR1A):c.1552_1553insTAAT (p.Lys518fs) rs1589293668
NM_004329.3(BMPR1A):c.1553AGA[1] (p.Lys519del) rs1589293666
NM_004329.3(BMPR1A):c.1554G>C (p.Lys518Asn) rs1554891668
NM_004329.3(BMPR1A):c.1559_1560insTT (p.Leu521fs) rs1554891669
NM_004329.3(BMPR1A):c.1560G>T (p.Thr520=) rs142775086
NM_004329.3(BMPR1A):c.1561C>T (p.Leu521Phe)
NM_004329.3(BMPR1A):c.1565C>T (p.Ala522Val) rs1843703262
NM_004329.3(BMPR1A):c.1568A>G (p.Lys523Arg) rs878854665
NM_004329.3(BMPR1A):c.1569G>C (p.Lys523Asn)
NM_004329.3(BMPR1A):c.156A>G (p.Pro52=) rs1589763398
NM_004329.3(BMPR1A):c.156_165del (p.Glu53fs) rs2133395477
NM_004329.3(BMPR1A):c.1570A>C (p.Met524Leu) rs747640982
NM_004329.3(BMPR1A):c.1570A>G (p.Met524Val) rs747640982
NM_004329.3(BMPR1A):c.1572G>C (p.Met524Ile) rs1064793404
NM_004329.3(BMPR1A):c.1572G>T (p.Met524Ile) rs1064793404
NM_004329.3(BMPR1A):c.1573G>A (p.Val525Ile) rs769233029
NM_004329.3(BMPR1A):c.1573G>T (p.Val525Phe) rs769233029
NM_004329.3(BMPR1A):c.1573_1588del (p.Met524_Val525insTer)
NM_004329.3(BMPR1A):c.1575T>C (p.Val525=)
NM_004329.3(BMPR1A):c.1579T>A (p.Ser527Thr) rs1589293695
NM_004329.3(BMPR1A):c.1582C>T (p.Gln528Ter) rs1554891677
NM_004329.3(BMPR1A):c.1584A>C (p.Gln528His) rs1554891680
NM_004329.3(BMPR1A):c.1585G>A (p.Asp529Asn)
NM_004329.3(BMPR1A):c.1585del (p.Asp529fs)
NM_004329.3(BMPR1A):c.1587T>A (p.Asp529Glu) rs864622175
NM_004329.3(BMPR1A):c.1587_1588insTTAC (p.Val530fs) rs1843703874
NM_004329.3(BMPR1A):c.1588G>A (p.Val530Ile) rs1843703913
NM_004329.3(BMPR1A):c.1595T>C (p.Ile532Thr) rs2133626158
NM_004329.3(BMPR1A):c.1596C>A (p.Ile532=) rs201345248
NM_004329.3(BMPR1A):c.1598G>A (p.Ter533=) rs1589293712
NM_004329.3(BMPR1A):c.15C>A (p.Tyr5Ter) rs1392086533
NM_004329.3(BMPR1A):c.15C>G (p.Tyr5Ter)
NM_004329.3(BMPR1A):c.15C>T (p.Tyr5=) rs1392086533
NM_004329.3(BMPR1A):c.160G>A (p.Asp54Asn) rs1843126765
NM_004329.3(BMPR1A):c.160G>T (p.Asp54Tyr)
NM_004329.3(BMPR1A):c.160del (p.Asp54fs) rs1131691183
NM_004329.3(BMPR1A):c.161A>T (p.Asp54Val) rs1554888124
NM_004329.3(BMPR1A):c.162T>C (p.Asp54=) rs2133395611
NM_004329.3(BMPR1A):c.163A>G (p.Thr55Ala) rs1843126824
NM_004329.3(BMPR1A):c.164C>T (p.Thr55Ile) rs1843126856
NM_004329.3(BMPR1A):c.165C>T (p.Thr55=)
NM_004329.3(BMPR1A):c.166T>C (p.Leu56=)
NM_004329.3(BMPR1A):c.167T>G (p.Leu56Trp) rs1554888125
NM_004329.3(BMPR1A):c.168G>A (p.Leu56=) rs1589763414
NM_004329.3(BMPR1A):c.168G>T (p.Leu56Phe)
NM_004329.3(BMPR1A):c.169C>A (p.Pro57Thr)
NM_004329.3(BMPR1A):c.169C>T (p.Pro57Ser)
NM_004329.3(BMPR1A):c.16A>G (p.Ile6Val) rs1842917141
NM_004329.3(BMPR1A):c.170C>G (p.Pro57Arg) rs1057517610
NM_004329.3(BMPR1A):c.171T>C (p.Pro57=) rs2133395802
NM_004329.3(BMPR1A):c.173T>C (p.Phe58Ser)
NM_004329.3(BMPR1A):c.173T>G (p.Phe58Cys) rs1843127298
NM_004329.3(BMPR1A):c.174T>C (p.Phe58=) rs1554888126
NM_004329.3(BMPR1A):c.175T>C (p.Leu59=)
NM_004329.3(BMPR1A):c.176T>A (p.Leu59Ter) rs1564714834
NM_004329.3(BMPR1A):c.176del (p.Phe58_Leu59insTer) rs786201038
NM_004329.3(BMPR1A):c.176dup (p.Leu59fs)
NM_004329.3(BMPR1A):c.177A>G (p.Leu59=) rs1030150137
NM_004329.3(BMPR1A):c.179A>G (p.Lys60Arg) rs1589763421
NM_004329.3(BMPR1A):c.182G>A (p.Cys61Tyr)
NM_004329.3(BMPR1A):c.184_187dup (p.Cys63fs) rs1589763427
NM_004329.3(BMPR1A):c.185A>G (p.Tyr62Cys) rs1060503402
NM_004329.3(BMPR1A):c.185_187dup (p.Tyr62dup) rs1589763427
NM_004329.3(BMPR1A):c.186T>C (p.Tyr62=) rs2133396011
NM_004329.3(BMPR1A):c.191C>T (p.Ser64Leu) rs760515128
NM_004329.3(BMPR1A):c.192_193del (p.Gly65fs)
NM_004329.3(BMPR1A):c.194G>A (p.Gly65Glu) rs1589763441
NM_004329.3(BMPR1A):c.195G>A (p.Gly65=) rs765437517
NM_004329.3(BMPR1A):c.195G>C (p.Gly65=) rs765437517
NM_004329.3(BMPR1A):c.195G>T (p.Gly65=)
NM_004329.3(BMPR1A):c.196C>G (p.His66Asp)
NM_004329.3(BMPR1A):c.197A>G (p.His66Arg) rs1843127850
NM_004329.3(BMPR1A):c.199T>C (p.Cys67Arg)
NM_004329.3(BMPR1A):c.19T>C (p.Tyr7His) rs762926643
NM_004329.3(BMPR1A):c.1A>G (p.Met1Val) rs786203157
NM_004329.3(BMPR1A):c.204A>C (p.Pro68=)
NM_004329.3(BMPR1A):c.204A>G (p.Pro68=)
NM_004329.3(BMPR1A):c.205G>T (p.Asp69Tyr) rs1177143902
NM_004329.3(BMPR1A):c.207T>C (p.Asp69=) rs2133396430
NM_004329.3(BMPR1A):c.208G>A (p.Asp70Asn)
NM_004329.3(BMPR1A):c.209A>G (p.Asp70Gly) rs1060503394
NM_004329.3(BMPR1A):c.209A>T (p.Asp70Val) rs1060503394
NM_004329.3(BMPR1A):c.20A>C (p.Tyr7Ser)
NM_004329.3(BMPR1A):c.210T>C (p.Asp70=) rs1589763468
NM_004329.3(BMPR1A):c.211G>A (p.Ala71Thr) rs1589763471
NM_004329.3(BMPR1A):c.212C>T (p.Ala71Val) rs1843128283
NM_004329.3(BMPR1A):c.213_228del (p.Ala71_Ile72insTer) rs1064792985
NM_004329.3(BMPR1A):c.214A>G (p.Ile72Val) rs1064795729
NM_004329.3(BMPR1A):c.214A>T (p.Ile72Phe)
NM_004329.3(BMPR1A):c.219_230del (p.Asn73_Ile77delinsLys) rs2133396668
NM_004329.3(BMPR1A):c.21C>T (p.Tyr7=) rs2133321194
NM_004329.3(BMPR1A):c.221A>C (p.Asn74Thr) rs2133396691
NM_004329.3(BMPR1A):c.222C>T (p.Asn74=) rs2133396713
NM_004329.3(BMPR1A):c.223A>G (p.Thr75Ala) rs1554888142
NM_004329.3(BMPR1A):c.224_225insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNNNNNNNNNNNNNNNNNNNNGCCGGCGGCTGCTCCTTGCCCTCGGGCCCCGCGGGGCCCGTCCGCTCCTCCAGCCGCTGCCTCCCGGGCGGCGCTCGCCGGCGCGGCGGCAAAGACTGCATGTAAGTA (p.Thr75_Cys76insPhePhePhePhePhePhePhePhePhePhePheXaaXaaXaaXaaXaaXaaXaaXaaXaaXaaProAlaAlaAlaProCysProArgAlaProArgGlyProSerAlaProProAlaAlaAlaSerArgAlaAlaLeuAlaGlyAlaAlaAlaLysThrAlaCysLysTer) rs1843128484
NM_004329.3(BMPR1A):c.226_227insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNNNNNNNNNNNNNNNNNNNNGCCGGCGGCTGCTCCTTGCCCTCGGGCCCCGCGGGGCCCGTCCGCTCCTCCAGCCGCTGCCTCCCGGGCGGCGCTCGCCGGCGCGGCGGCAAAGACTGCATGTAAGTAT (p.Cys76delinsPhePhePhePhePhePhePhePhePhePhePheXaaXaaXaaXaaXaaXaaXaaXaaXaaXaaAlaGlyGlyCysSerLeuProSerGlyProAlaGlyProValArgSerSerSerArgCysLeuProGlyGlyAlaArgArgArgGlyGlyLysAspCysMetTer) rs1843128582
NM_004329.3(BMPR1A):c.228C>T (p.Cys76=) rs1554888145
NM_004329.3(BMPR1A):c.229A>C (p.Ile77Leu) rs878854666
NM_004329.3(BMPR1A):c.229A>G (p.Ile77Val) rs878854666
NM_004329.3(BMPR1A):c.22A>T (p.Ile8Phe)
NM_004329.3(BMPR1A):c.230+11_230+12insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTNNNNNNNNNNTGCTCCTTGCCCTCGGGCCCCGCGGGGCCCGTCCGCTCCTCCAGCCGCTGCCTCCCGGGCGGCGCTCGCCGGCGCGGCGGCAAAGACTGCATGTAAGTATTTT rs2133396850
NM_004329.3(BMPR1A):c.230+11dup rs2133397026
NM_004329.3(BMPR1A):c.230+12A>C
NM_004329.3(BMPR1A):c.230+12dup
NM_004329.3(BMPR1A):c.230+14G>A rs1843128914
NM_004329.3(BMPR1A):c.230+14G>T rs1843128914
NM_004329.3(BMPR1A):c.230+16A>G rs2133397078
NM_004329.3(BMPR1A):c.230+17G>A rs1843128991
NM_004329.3(BMPR1A):c.230+18C>A rs951790171
NM_004329.3(BMPR1A):c.230+18C>G
NM_004329.3(BMPR1A):c.230+19C>G rs751663790
NM_004329.3(BMPR1A):c.230+19C>T rs751663790
NM_004329.3(BMPR1A):c.230+1G>A rs1843128744
NM_004329.3(BMPR1A):c.230+20C>A
NM_004329.3(BMPR1A):c.230+20C>G rs755474277
NM_004329.3(BMPR1A):c.230+20C>T rs755474277
NM_004329.3(BMPR1A):c.230+5G>A
NM_004329.3(BMPR1A):c.230+9T>C
NM_004329.3(BMPR1A):c.231-10del
NM_004329.3(BMPR1A):c.231-10dup rs747206781
NM_004329.3(BMPR1A):c.231-11T>A rs1343373290
NM_004329.3(BMPR1A):c.231-12T>G
NM_004329.3(BMPR1A):c.231-13T>C
NM_004329.3(BMPR1A):c.231-16T>G rs1564715414
NM_004329.3(BMPR1A):c.231-17G>T
NM_004329.3(BMPR1A):c.231-18T>C
NM_004329.3(BMPR1A):c.231-1G>C rs1564715427
NM_004329.3(BMPR1A):c.231-2A>G
NM_004329.3(BMPR1A):c.231-3T>C
NM_004329.3(BMPR1A):c.231-4T>A
NM_004329.3(BMPR1A):c.231-4T>C rs1589764251
NM_004329.3(BMPR1A):c.231-6T>C rs1042211540
NM_004329.3(BMPR1A):c.231-7G>A rs1293630917
NM_004329.3(BMPR1A):c.231-7del
NM_004329.3(BMPR1A):c.231-9C>A rs763313220
NM_004329.3(BMPR1A):c.231-9C>G rs763313220
NM_004329.3(BMPR1A):c.231-9C>T rs763313220
NM_004329.3(BMPR1A):c.233C>T (p.Thr78Ile) rs1064793490
NM_004329.3(BMPR1A):c.236A>G (p.Asn79Ser) rs1589764258
NM_004329.3(BMPR1A):c.237T>C (p.Asn79=) rs1843159384
NM_004329.3(BMPR1A):c.240A>G (p.Gly80=)
NM_004329.3(BMPR1A):c.240A>T (p.Gly80=) rs1282223116
NM_004329.3(BMPR1A):c.241C>T (p.His81Tyr) rs953797046
NM_004329.3(BMPR1A):c.242A>G (p.His81Arg) rs1064793333
NM_004329.3(BMPR1A):c.242A>T (p.His81Leu) rs1064793333
NM_004329.3(BMPR1A):c.243T>C (p.His81=)
NM_004329.3(BMPR1A):c.244T>A (p.Cys82Ser) rs1060503406
NM_004329.3(BMPR1A):c.244T>G (p.Cys82Gly) rs1060503406
NM_004329.3(BMPR1A):c.244del (p.Cys82fs) rs1589764273
NM_004329.3(BMPR1A):c.245G>A (p.Cys82Tyr)
NM_004329.3(BMPR1A):c.246C>T (p.Cys82=) rs759647230
NM_004329.3(BMPR1A):c.247T>C (p.Phe83Leu)
NM_004329.3(BMPR1A):c.247_251del (p.Phe83fs) rs786204187
NM_004329.3(BMPR1A):c.248T>A (p.Phe83Tyr) rs1843160072
NM_004329.3(BMPR1A):c.24C>T (p.Ile8=) rs1554886810
NM_004329.3(BMPR1A):c.250G>A (p.Ala84Thr) rs1456980302
NM_004329.3(BMPR1A):c.250G>T (p.Ala84Ser) rs1456980302
NM_004329.3(BMPR1A):c.251C>T (p.Ala84Val) rs2133407821
NM_004329.3(BMPR1A):c.252C>T (p.Ala84=) rs2133407859
NM_004329.3(BMPR1A):c.256A>G (p.Ile86Val) rs1554888312
NM_004329.3(BMPR1A):c.257T>C (p.Ile86Thr) rs876659498
NM_004329.3(BMPR1A):c.258A>T (p.Ile86=) rs2133407994
NM_004329.3(BMPR1A):c.258AGA[2] (p.Glu88del) rs876659086
NM_004329.3(BMPR1A):c.260A>T (p.Glu87Val) rs2133408068
NM_004329.3(BMPR1A):c.261A>G (p.Glu87=) rs1564715455
NM_004329.3(BMPR1A):c.262G>T (p.Glu88Ter) rs730881431
NM_004329.3(BMPR1A):c.265G>A (p.Asp89Asn)
NM_004329.3(BMPR1A):c.267T>C (p.Asp89=) rs753250496
NM_004329.3(BMPR1A):c.269A>C (p.Asp90Ala)
NM_004329.3(BMPR1A):c.26G>A (p.Arg9Lys)
NM_004329.3(BMPR1A):c.26G>C (p.Arg9Thr) rs766269417
NM_004329.3(BMPR1A):c.270C>G (p.Asp90Glu)
NM_004329.3(BMPR1A):c.271C>A (p.Gln91Lys) rs878854667
NM_004329.3(BMPR1A):c.274G>C (p.Gly92Arg) rs1843160838
NM_004329.3(BMPR1A):c.275G>A (p.Gly92Glu) rs1843160891
NM_004329.3(BMPR1A):c.275del (p.Gly92fs) rs1554888317
NM_004329.3(BMPR1A):c.281C>T (p.Thr94Ile) rs1843161052
NM_004329.3(BMPR1A):c.282C>T (p.Thr94=) rs1843161181
NM_004329.3(BMPR1A):c.283A>G (p.Thr95Ala) rs1564715471
NM_004329.3(BMPR1A):c.286T>A (p.Leu96Ile) rs1554888320
NM_004329.3(BMPR1A):c.286T>G (p.Leu96Val) rs1554888320
NM_004329.3(BMPR1A):c.291T>C (p.Ala97=)
NM_004329.3(BMPR1A):c.292T>G (p.Ser98Ala) rs1564715478
NM_004329.3(BMPR1A):c.297G>T (p.Gly99=) rs1251509897
NM_004329.3(BMPR1A):c.299G>T (p.Cys100Phe)
NM_004329.3(BMPR1A):c.29T>C (p.Leu10Ser) rs2133321352
NM_004329.3(BMPR1A):c.300T>C (p.Cys100=) rs754180012
NM_004329.3(BMPR1A):c.301A>G (p.Met101Val) rs2133408803
NM_004329.3(BMPR1A):c.306A>G (p.Lys102=)
NM_004329.3(BMPR1A):c.306A>T (p.Lys102Asn)
NM_004329.3(BMPR1A):c.308A>T (p.Tyr103Phe)
NM_004329.3(BMPR1A):c.309T>C (p.Tyr103=) rs876658891
NM_004329.3(BMPR1A):c.313G>A (p.Gly105Arg)
NM_004329.3(BMPR1A):c.313G>T (p.Gly105Ter)
NM_004329.3(BMPR1A):c.314G>A (p.Gly105Glu) rs1843161877
NM_004329.3(BMPR1A):c.315A>C (p.Gly105=) rs2133408970
NM_004329.3(BMPR1A):c.322T>C (p.Phe108Leu) rs1554888328
NM_004329.3(BMPR1A):c.326A>G (p.Gln109Arg)
NM_004329.3(BMPR1A):c.326A>T (p.Gln109Leu)
NM_004329.3(BMPR1A):c.327G>A (p.Gln109=) rs1589764339
NM_004329.3(BMPR1A):c.32T>G (p.Leu11Trp) rs1842917459
NM_004329.3(BMPR1A):c.333+11A>G
NM_004329.3(BMPR1A):c.333+12T>C
NM_004329.3(BMPR1A):c.333+16G>T rs2133409257
NM_004329.3(BMPR1A):c.333+17G>C
NM_004329.3(BMPR1A):c.333+18A>G
NM_004329.3(BMPR1A):c.333+19C>T
NM_004329.3(BMPR1A):c.333+1G>A
NM_004329.3(BMPR1A):c.333+21del
NM_004329.3(BMPR1A):c.333+22_333+66dup rs2133409296
NM_004329.3(BMPR1A):c.333+2T>A rs2133409163
NM_004329.3(BMPR1A):c.333+5G>C rs1554888331
NM_004329.3(BMPR1A):c.333+6A>C rs1473659802
NM_004329.3(BMPR1A):c.333+6A>G rs1473659802
NM_004329.3(BMPR1A):c.333+6A>T rs1473659802
NM_004329.3(BMPR1A):c.333+8A>G
NM_004329.3(BMPR1A):c.333+9T>C rs1589764344
NM_004329.3(BMPR1A):c.334-10C>G rs1554888956
NM_004329.3(BMPR1A):c.334-11T>C rs1057521072
NM_004329.3(BMPR1A):c.334-12C>G
NM_004329.3(BMPR1A):c.334-13A>G rs2133453051
NM_004329.3(BMPR1A):c.334-13A>T
NM_004329.3(BMPR1A):c.334-14T>C rs1843279043
NM_004329.3(BMPR1A):c.334-16A>G rs143279531
NM_004329.3(BMPR1A):c.334-16A>T rs143279531
NM_004329.3(BMPR1A):c.334-17C>A rs1344682586
NM_004329.3(BMPR1A):c.334-17_334-15del rs769483063
NM_004329.3(BMPR1A):c.334-18T>G
NM_004329.3(BMPR1A):c.334-19A>G
NM_004329.3(BMPR1A):c.334-19A>T rs2133452985
NM_004329.3(BMPR1A):c.334-3T>C rs1060503411
NM_004329.3(BMPR1A):c.334-4T>C rs1060504904
NM_004329.3(BMPR1A):c.334-4T>G rs1060504904
NM_004329.3(BMPR1A):c.334-7_334-3del rs2133453116
NM_004329.3(BMPR1A):c.334-7_334-5del rs1182437783
NM_004329.3(BMPR1A):c.334-8T>C rs1554888958
NM_004329.3(BMPR1A):c.335A>T (p.Asp112Val) rs2133453165
NM_004329.3(BMPR1A):c.338del (p.Ser113fs)
NM_004329.3(BMPR1A):c.340C>G (p.Pro114Ala) rs1554888960
NM_004329.3(BMPR1A):c.340C>T (p.Pro114Ser) rs1554888960
NM_004329.3(BMPR1A):c.340_342del (p.Pro114del) rs2133453263
NM_004329.3(BMPR1A):c.342A>G (p.Pro114=)
NM_004329.3(BMPR1A):c.343_345inv (p.Lys115Phe)
NM_004329.3(BMPR1A):c.345A>G (p.Lys115=) rs1843279598
NM_004329.3(BMPR1A):c.348C>T (p.Ala116=) rs2133453411
NM_004329.3(BMPR1A):c.349dup (p.Gln117fs)
NM_004329.3(BMPR1A):c.34G>A (p.Gly12Arg) rs1842917526
NM_004329.3(BMPR1A):c.350A>G (p.Gln117Arg) rs1360094214
NM_004329.3(BMPR1A):c.352C>G (p.Leu118Val) rs587782418
NM_004329.3(BMPR1A):c.352C>T (p.Leu118=) rs587782418
NM_004329.3(BMPR1A):c.354A>G (p.Leu118=)
NM_004329.3(BMPR1A):c.355C>T (p.Arg119Cys) rs587782494
NM_004329.3(BMPR1A):c.356G>A (p.Arg119His) rs1554888965
NM_004329.3(BMPR1A):c.357C>A (p.Arg119=) rs757950894
NM_004329.3(BMPR1A):c.357C>T (p.Arg119=) rs757950894
NM_004329.3(BMPR1A):c.357_360del (p.Arg120fs) rs2133453577
NM_004329.3(BMPR1A):c.358C>T (p.Arg120Trp) rs779661827
NM_004329.3(BMPR1A):c.359G>A (p.Arg120Gln) rs1060503401
NM_004329.3(BMPR1A):c.359G>C (p.Arg120Pro)
NM_004329.3(BMPR1A):c.35G>A (p.Gly12Glu) rs1589757087
NM_004329.3(BMPR1A):c.360G>T (p.Arg120=) rs1554888968
NM_004329.3(BMPR1A):c.360del (p.Thr121fs) rs1064794031
NM_004329.3(BMPR1A):c.362C>T (p.Thr121Ile) rs1554888969
NM_004329.3(BMPR1A):c.363A>G (p.Thr121=) rs2133453764
NM_004329.3(BMPR1A):c.364A>G (p.Ile122Val)
NM_004329.3(BMPR1A):c.364dup (p.Ile122fs)
NM_004329.3(BMPR1A):c.365T>A (p.Ile122Lys)
NM_004329.3(BMPR1A):c.365T>C (p.Ile122Thr) rs1554888971
NM_004329.3(BMPR1A):c.366A>T (p.Ile122=) rs1843280770
NM_004329.3(BMPR1A):c.367G>A (p.Glu123Lys) rs1843280822
NM_004329.3(BMPR1A):c.369A>G (p.Glu123=)
NM_004329.3(BMPR1A):c.370T>A (p.Cys124Ser) rs199476087
NM_004329.3(BMPR1A):c.371G>A (p.Cys124Tyr) rs587782388
NM_004329.3(BMPR1A):c.375T>C (p.Cys125=) rs1449209053
NM_004329.3(BMPR1A):c.376C>G (p.Arg126Gly) rs781258592
NM_004329.3(BMPR1A):c.376C>T (p.Arg126Trp) rs781258592
NM_004329.3(BMPR1A):c.377G>C (p.Arg126Pro) rs864622549
NM_004329.3(BMPR1A):c.377G>T (p.Arg126Leu) rs864622549
NM_004329.3(BMPR1A):c.378G>T (p.Arg126=)
NM_004329.3(BMPR1A):c.379A>C (p.Thr127Pro) rs2133454135
NM_004329.3(BMPR1A):c.37G>A (p.Ala13Thr) rs200115604
NM_004329.3(BMPR1A):c.37G>C (p.Ala13Pro)
NM_004329.3(BMPR1A):c.382A>G (p.Asn128Asp) rs2133454173
NM_004329.3(BMPR1A):c.384T>C (p.Asn128=) rs2133454210
NM_004329.3(BMPR1A):c.387A>G (p.Leu129=)
NM_004329.3(BMPR1A):c.388T>C (p.Cys130Arg) rs1131691168
NM_004329.3(BMPR1A):c.389G>C (p.Cys130Ser) rs863224720
NM_004329.3(BMPR1A):c.38C>G (p.Ala13Gly) rs754015069
NM_004329.3(BMPR1A):c.38C>T (p.Ala13Val) rs754015069
NM_004329.3(BMPR1A):c.390T>C (p.Cys130=)
NM_004329.3(BMPR1A):c.394C>T (p.Gln132Ter) rs2133454296
NM_004329.3(BMPR1A):c.396G>A (p.Gln132=) rs1564717712
NM_004329.3(BMPR1A):c.399T>C (p.Tyr133=) rs1843282106
NM_004329.3(BMPR1A):c.39C>G (p.Ala13=)
NM_004329.3(BMPR1A):c.3G>T (p.Met1Ile) rs869312758
NM_004329.3(BMPR1A):c.3_4insACTCAGCTATACATTTACATCAGATCTTTTACAAGAAAATCTCACTGAATGATAGTCATTTAAATTGGTGAAGTAGCAAGACCAATTATTAAAGGTGACAGTACACAGGAAACATTACAATTGAACAATG (p.Pro2delinsThrGlnLeuTyrIleTyrIleArgSerPheThrArgLysSerHisTer)
NM_004329.3(BMPR1A):c.402G>C (p.Leu134Phe) rs2133454421
NM_004329.3(BMPR1A):c.405A>G (p.Gln135=) rs1589768073
NM_004329.3(BMPR1A):c.405dup (p.Pro136fs) rs876660442
NM_004329.3(BMPR1A):c.407C>T (p.Pro136Leu) rs1554888980
NM_004329.3(BMPR1A):c.408C>G (p.Pro136=)
NM_004329.3(BMPR1A):c.409A>C (p.Thr137Pro) rs1589768079
NM_004329.3(BMPR1A):c.409A>T (p.Thr137Ser) rs1589768079
NM_004329.3(BMPR1A):c.40dup (p.Tyr14fs) rs1554886815
NM_004329.3(BMPR1A):c.410C>T (p.Thr137Ile) rs1843282592
NM_004329.3(BMPR1A):c.413T>C (p.Leu138Pro) rs767385418
NM_004329.3(BMPR1A):c.413T>G (p.Leu138Arg)
NM_004329.3(BMPR1A):c.415C>T (p.Pro139Ser) rs772163112
NM_004329.3(BMPR1A):c.416C>G (p.Pro139Arg) rs1554888987
NM_004329.3(BMPR1A):c.416C>T (p.Pro139Leu)
NM_004329.3(BMPR1A):c.417C>T (p.Pro139=)
NM_004329.3(BMPR1A):c.419C>T (p.Pro140Leu) rs1312138101
NM_004329.3(BMPR1A):c.419del (p.Pro140fs) rs1554888986
NM_004329.3(BMPR1A):c.41A>G (p.Tyr14Cys) rs2133321618
NM_004329.3(BMPR1A):c.421G>A (p.Val141Ile) rs1244692883
NM_004329.3(BMPR1A):c.422T>A (p.Val141Asp) rs1442736321
NM_004329.3(BMPR1A):c.424G>C (p.Val142Leu) rs1564717740
NM_004329.3(BMPR1A):c.424_426del (p.Val142del)
NM_004329.3(BMPR1A):c.427A>C (p.Ile143Leu) rs760739609
NM_004329.3(BMPR1A):c.42T>C (p.Tyr14=)
NM_004329.3(BMPR1A):c.430+10C>G rs863224395
NM_004329.3(BMPR1A):c.430+10C>T rs863224395
NM_004329.3(BMPR1A):c.430+11C>A
NM_004329.3(BMPR1A):c.430+11C>G
NM_004329.3(BMPR1A):c.430+11del rs1554888990
NM_004329.3(BMPR1A):c.430+14G>A rs2133455070
NM_004329.3(BMPR1A):c.430+14_430+15del
NM_004329.3(BMPR1A):c.430+19G>A rs1336586702
NM_004329.3(BMPR1A):c.430+1G>A rs1843283551
NM_004329.3(BMPR1A):c.430+3A>G rs769214238
NM_004329.3(BMPR1A):c.430+4G>A
NM_004329.3(BMPR1A):c.430+5G>A rs2133454975
NM_004329.3(BMPR1A):c.430+9G>C rs1554888989
NM_004329.3(BMPR1A):c.430G>C (p.Gly144Arg) rs876658573
NM_004329.3(BMPR1A):c.431-12T>A rs1469605794
NM_004329.3(BMPR1A):c.431-13del rs1427702408
NM_004329.3(BMPR1A):c.431-15T>C rs1843285624
NM_004329.3(BMPR1A):c.431-17T>A
NM_004329.3(BMPR1A):c.431-17T>C
NM_004329.3(BMPR1A):c.431-18G>A rs2133455755
NM_004329.3(BMPR1A):c.431-18_431-17insAA
NM_004329.3(BMPR1A):c.431-19T>G
NM_004329.3(BMPR1A):c.431-19del
NM_004329.3(BMPR1A):c.431-1G>A
NM_004329.3(BMPR1A):c.431-1G>C
NM_004329.3(BMPR1A):c.431-3C>T rs876659613
NM_004329.3(BMPR1A):c.431-5G>T rs587782334
NM_004329.3(BMPR1A):c.431-6T>A rs1589768166
NM_004329.3(BMPR1A):c.431-6T>C rs1589768166
NM_004329.3(BMPR1A):c.431-6del rs1843285770
NM_004329.3(BMPR1A):c.431-7T>C rs1843285734
NM_004329.3(BMPR1A):c.431G>A (p.Gly144Asp)
NM_004329.3(BMPR1A):c.431G>T (p.Gly144Val) rs1843285922
NM_004329.3(BMPR1A):c.432T>C (p.Gly144=) rs879174600
NM_004329.3(BMPR1A):c.433C>T (p.Pro145Ser)
NM_004329.3(BMPR1A):c.434C>A (p.Pro145Gln) rs1564717828
NM_004329.3(BMPR1A):c.434C>T (p.Pro145Leu) rs1564717828
NM_004329.3(BMPR1A):c.435G>T (p.Pro145=) rs11818239
NM_004329.3(BMPR1A):c.436T>G (p.Phe146Val) rs1554889007
NM_004329.3(BMPR1A):c.438T>G (p.Phe146Leu) rs1564717849
NM_004329.3(BMPR1A):c.43T>C (p.Leu15=) rs1163803159
NM_004329.3(BMPR1A):c.440T>C (p.Phe147Ser) rs371243894
NM_004329.3(BMPR1A):c.441_458delinsGA (p.Phe147fs) rs1131691179
NM_004329.3(BMPR1A):c.443A>G (p.Asp148Gly) rs1589768201
NM_004329.3(BMPR1A):c.445G>A (p.Gly149Ser) rs1589768202
NM_004329.3(BMPR1A):c.446G>A (p.Gly149Asp)
NM_004329.3(BMPR1A):c.447C>T (p.Gly149=) rs1589768207
NM_004329.3(BMPR1A):c.44_47del (p.Leu15fs) rs1554886816
NM_004329.3(BMPR1A):c.454C>T (p.Arg152Ter) rs1131691178
NM_004329.3(BMPR1A):c.455G>T (p.Arg152Leu)
NM_004329.3(BMPR1A):c.455del (p.Arg152fs) rs1843286694
NM_004329.3(BMPR1A):c.456A>G (p.Arg152=) rs2133456447
NM_004329.3(BMPR1A):c.457T>G (p.Trp153Gly) rs2133456471
NM_004329.3(BMPR1A):c.458G>A (p.Trp153Ter) rs1131691176
NM_004329.3(BMPR1A):c.45G>A (p.Leu15=) rs2133321682
NM_004329.3(BMPR1A):c.45G>C (p.Leu15Phe) rs2133321682
NM_004329.3(BMPR1A):c.460C>G (p.Leu154Val)
NM_004329.3(BMPR1A):c.463G>T (p.Val155Phe) rs1589768221
NM_004329.3(BMPR1A):c.464T>A (p.Val155Asp)
NM_004329.3(BMPR1A):c.470T>C (p.Leu157Pro) rs751260747
NM_004329.3(BMPR1A):c.470T>G (p.Leu157Arg) rs751260747
NM_004329.3(BMPR1A):c.471C>G (p.Leu157=) rs1060504903
NM_004329.3(BMPR1A):c.472A>C (p.Ile158Leu) rs1564717888
NM_004329.3(BMPR1A):c.475T>C (p.Ser159Pro) rs767157505
NM_004329.3(BMPR1A):c.476C>T (p.Ser159Phe) rs1843287105
NM_004329.3(BMPR1A):c.482C>T (p.Ala161Val) rs1843287265
NM_004329.3(BMPR1A):c.483dup (p.Val162fs)
NM_004329.3(BMPR1A):c.485T>G (p.Val162Gly) rs1589768250
NM_004329.3(BMPR1A):c.486C>T (p.Val162=) rs1843287389
NM_004329.3(BMPR1A):c.488G>T (p.Cys163Phe) rs1843287435
NM_004329.3(BMPR1A):c.491T>C (p.Ile164Thr)
NM_004329.3(BMPR1A):c.494T>C (p.Ile165Thr) rs1260484420
NM_004329.3(BMPR1A):c.495T>C (p.Ile165=)
NM_004329.3(BMPR1A):c.495T>G (p.Ile165Met) rs763934014
NM_004329.3(BMPR1A):c.496G>A (p.Ala166Thr) rs971636078
NM_004329.3(BMPR1A):c.496G>T (p.Ala166Ser) rs971636078
NM_004329.3(BMPR1A):c.497_498del (p.Ala166fs)
NM_004329.3(BMPR1A):c.497del (p.Ala166fs) rs2133457292
NM_004329.3(BMPR1A):c.499A>T (p.Met167Leu) rs200951235
NM_004329.3(BMPR1A):c.49A>C (p.Ile17Leu) rs778886055
NM_004329.3(BMPR1A):c.4C>T (p.Pro2Ser) rs11528010
NM_004329.3(BMPR1A):c.501G>C (p.Met167Ile)
NM_004329.3(BMPR1A):c.502ATC[1] (p.Ile169del) rs1057518941
NM_004329.3(BMPR1A):c.503T>C (p.Ile168Thr)
NM_004329.3(BMPR1A):c.504C>G (p.Ile168Met) rs778615896
NM_004329.3(BMPR1A):c.505A>G (p.Ile169Val) rs878854668
NM_004329.3(BMPR1A):c.505A>T (p.Ile169Phe) rs878854668
NM_004329.3(BMPR1A):c.505_510del (p.Ile169_Phe170del) rs1589768267
NM_004329.3(BMPR1A):c.506T>C (p.Ile169Thr) rs1589768275
NM_004329.3(BMPR1A):c.506TCT[1] (p.Phe170del) rs878854669
NM_004329.3(BMPR1A):c.509T>G (p.Phe170Cys)
NM_004329.3(BMPR1A):c.510del (p.Ser171fs)
NM_004329.3(BMPR1A):c.511T>C (p.Ser171Pro) rs377733546
NM_004329.3(BMPR1A):c.512C>T (p.Ser171Phe) rs781286980
NM_004329.3(BMPR1A):c.513C>T (p.Ser171=) rs1843288258
NM_004329.3(BMPR1A):c.517T>C (p.Cys173Arg)
NM_004329.3(BMPR1A):c.519C>G (p.Cys173Trp) rs863224721
NM_004329.3(BMPR1A):c.520T>C (p.Phe174Leu) rs1843288421
NM_004329.3(BMPR1A):c.522T>A (p.Phe174Leu) rs1843288452
NM_004329.3(BMPR1A):c.524G>C (p.Cys175Ser) rs370091063
NM_004329.3(BMPR1A):c.526T>C (p.Tyr176His) rs1564717948
NM_004329.3(BMPR1A):c.526_528del (p.Tyr176del) rs2133458037
NM_004329.3(BMPR1A):c.527A>G (p.Tyr176Cys) rs1554889024
NM_004329.3(BMPR1A):c.527A>T (p.Tyr176Phe) rs1554889024
NM_004329.3(BMPR1A):c.529A>C (p.Lys177Gln)
NM_004329.3(BMPR1A):c.530+10T>C
NM_004329.3(BMPR1A):c.530+11A>T
NM_004329.3(BMPR1A):c.530+15_530+33del rs1843289071
NM_004329.3(BMPR1A):c.530+17T>G
NM_004329.3(BMPR1A):c.530+18T>C rs1236856622
NM_004329.3(BMPR1A):c.530+1G>T
NM_004329.3(BMPR1A):c.530+3A>G rs2133458164
NM_004329.3(BMPR1A):c.530+4A>G rs876658490
NM_004329.3(BMPR1A):c.530+5G>A rs1554889026
NM_004329.3(BMPR1A):c.530+5G>C rs1554889026
NM_004329.3(BMPR1A):c.530+6A>C rs2133458229
NM_004329.3(BMPR1A):c.530+6A>G
NM_004329.3(BMPR1A):c.530+7A>G rs1060504908
NM_004329.3(BMPR1A):c.530+7_530+9del rs2133458177
NM_004329.3(BMPR1A):c.530+8G>A rs964724409
NM_004329.3(BMPR1A):c.530+8G>T
NM_004329.3(BMPR1A):c.530+9A>G
NM_004329.3(BMPR1A):c.531-10T>C
NM_004329.3(BMPR1A):c.531-15C>T
NM_004329.3(BMPR1A):c.531-1G>T rs1589288524
NM_004329.3(BMPR1A):c.531-20G>A rs2133543335
NM_004329.3(BMPR1A):c.531-4A>G rs1843500723
NM_004329.3(BMPR1A):c.531-5A>G
NM_004329.3(BMPR1A):c.531-5A>T
NM_004329.3(BMPR1A):c.531-6T>A rs1564721906
NM_004329.3(BMPR1A):c.531-6T>C rs1564721906
NM_004329.3(BMPR1A):c.533A>G (p.His178Arg)
NM_004329.3(BMPR1A):c.533ATT[1] (p.Tyr179del) rs1389461805
NM_004329.3(BMPR1A):c.534T>G (p.His178Gln) rs2133543547
NM_004329.3(BMPR1A):c.535T>C (p.Tyr179His) rs1843500916
NM_004329.3(BMPR1A):c.536A>G (p.Tyr179Cys) rs1843500965
NM_004329.3(BMPR1A):c.537T>C (p.Tyr179=) rs1305949468
NM_004329.3(BMPR1A):c.538T>C (p.Cys180Arg)
NM_004329.3(BMPR1A):c.539G>A (p.Cys180Tyr) rs1843501084
NM_004329.3(BMPR1A):c.539G>T (p.Cys180Phe) rs1843501084
NM_004329.3(BMPR1A):c.541A>G (p.Lys181Glu) rs2133543692
NM_004329.3(BMPR1A):c.542A>G (p.Lys181Arg) rs1446889676
NM_004329.3(BMPR1A):c.543G>A (p.Lys181=) rs2133543775
NM_004329.3(BMPR1A):c.544A>G (p.Ser182Gly)
NM_004329.3(BMPR1A):c.545G>A (p.Ser182Asn) rs1341015567
NM_004329.3(BMPR1A):c.545G>C (p.Ser182Thr)
NM_004329.3(BMPR1A):c.545G>T (p.Ser182Ile)
NM_004329.3(BMPR1A):c.546C>T (p.Ser182=)
NM_004329.3(BMPR1A):c.547A>G (p.Ile183Val) rs935076000
NM_004329.3(BMPR1A):c.547A>T (p.Ile183Phe) rs935076000
NM_004329.3(BMPR1A):c.549C>A (p.Ile183=)
NM_004329.3(BMPR1A):c.549C>T (p.Ile183=) rs748339701
NM_004329.3(BMPR1A):c.551C>G (p.Ser184Ter) rs1131691185
NM_004329.3(BMPR1A):c.551C>T (p.Ser184Leu) rs1131691185
NM_004329.3(BMPR1A):c.553A>G (p.Ser185Gly)
NM_004329.3(BMPR1A):c.559CGT[1] (p.Arg188del) rs751105749
NM_004329.3(BMPR1A):c.560G>T (p.Arg187Leu) rs189059377
NM_004329.3(BMPR1A):c.561T>C (p.Arg187=)
NM_004329.3(BMPR1A):c.562C>A (p.Arg188Ser)
NM_004329.3(BMPR1A):c.563G>T (p.Arg188Leu) rs749780872
NM_004329.3(BMPR1A):c.565T>C (p.Tyr189His) rs1564721927
NM_004329.3(BMPR1A):c.566dup (p.Tyr189Ter) rs1564721929
NM_004329.3(BMPR1A):c.567C>A (p.Tyr189Ter) rs1554890213
NM_004329.3(BMPR1A):c.567C>T (p.Tyr189=)
NM_004329.3(BMPR1A):c.568A>C (p.Asn190His) rs771444196
NM_004329.3(BMPR1A):c.56C>T (p.Ser19Phe) rs1842917942
NM_004329.3(BMPR1A):c.571C>A (p.Arg191Ser)
NM_004329.3(BMPR1A):c.571C>G (p.Arg191Gly)
NM_004329.3(BMPR1A):c.574G>A (p.Asp192Asn)
NM_004329.3(BMPR1A):c.574G>C (p.Asp192His) rs1843502418
NM_004329.3(BMPR1A):c.578dup (p.Leu193fs) rs1554890219
NM_004329.3(BMPR1A):c.579G>C (p.Leu193Phe) rs1060503404
NM_004329.3(BMPR1A):c.580G>C (p.Glu194Gln) rs2133544661
NM_004329.3(BMPR1A):c.581A>G (p.Glu194Gly) rs1843502521
NM_004329.3(BMPR1A):c.583C>T (p.Gln195Ter) rs771910503
NM_004329.3(BMPR1A):c.585G>A (p.Gln195=)
NM_004329.3(BMPR1A):c.586G>A (p.Asp196Asn) rs1843502787
NM_004329.3(BMPR1A):c.586G>C (p.Asp196His) rs1843502787
NM_004329.3(BMPR1A):c.587A>T (p.Asp196Val)
NM_004329.3(BMPR1A):c.588T>C (p.Asp196=) rs1564721952
NM_004329.3(BMPR1A):c.588T>G (p.Asp196Glu) rs1564721952
NM_004329.3(BMPR1A):c.58C>T (p.Arg20Cys) rs1472397694
NM_004329.3(BMPR1A):c.591A>G (p.Glu197=) rs2133544983
NM_004329.3(BMPR1A):c.591A>T (p.Glu197Asp)
NM_004329.3(BMPR1A):c.592G>A (p.Ala198Thr) rs1843502994
NM_004329.3(BMPR1A):c.592_593delinsTT (p.Ala198Leu) rs1843503016
NM_004329.3(BMPR1A):c.593C>T (p.Ala198Val) rs776160961
NM_004329.3(BMPR1A):c.598A>G (p.Ile200Val)
NM_004329.3(BMPR1A):c.59G>T (p.Arg20Leu) rs759014147
NM_004329.3(BMPR1A):c.5C>G (p.Pro2Arg)
NM_004329.3(BMPR1A):c.601C>G (p.Pro201Ala) rs2133545205
NM_004329.3(BMPR1A):c.602C>T (p.Pro201Leu)
NM_004329.3(BMPR1A):c.603A>G (p.Pro201=) rs2133545231
NM_004329.3(BMPR1A):c.604G>T (p.Val202Phe) rs878854670
NM_004329.3(BMPR1A):c.605T>C (p.Val202Ala) rs879254158
NM_004329.3(BMPR1A):c.606T>C (p.Val202=) rs1315251677
NM_004329.3(BMPR1A):c.607G>A (p.Gly203Arg) rs1843503336
NM_004329.3(BMPR1A):c.608G>A (p.Gly203Glu) rs587782748
NM_004329.3(BMPR1A):c.609A>G (p.Gly203=) rs2133545397
NM_004329.3(BMPR1A):c.613T>C (p.Ser205Pro)
NM_004329.3(BMPR1A):c.619A>G (p.Lys207Glu) rs2133545475
NM_004329.3(BMPR1A):c.620A>G (p.Lys207Arg) rs1554890228
NM_004329.3(BMPR1A):c.623A>G (p.Asp208Gly)
NM_004329.3(BMPR1A):c.624C>A (p.Asp208Glu)
NM_004329.3(BMPR1A):c.624C>T (p.Asp208=)
NM_004329.3(BMPR1A):c.627T>C (p.Leu209=) rs2133545536
NM_004329.3(BMPR1A):c.629T>C (p.Ile210Thr) rs730881432
NM_004329.3(BMPR1A):c.629T>G (p.Ile210Ser) rs730881432
NM_004329.3(BMPR1A):c.62T>C (p.Val21Ala) rs2133321901
NM_004329.3(BMPR1A):c.632A>C (p.Asp211Ala)
NM_004329.3(BMPR1A):c.632A>G (p.Asp211Gly) rs1843503680
NM_004329.3(BMPR1A):c.634C>G (p.Gln212Glu) rs876658138
NM_004329.3(BMPR1A):c.634C>T (p.Gln212Ter)
NM_004329.3(BMPR1A):c.640C>A (p.Gln214Lys) rs1305429176
NM_004329.3(BMPR1A):c.647C>A (p.Ser216Tyr)
NM_004329.3(BMPR1A):c.647C>G (p.Ser216Cys)
NM_004329.3(BMPR1A):c.648T>C (p.Ser216=) rs1060504905
NM_004329.3(BMPR1A):c.649G>A (p.Gly217Ser) rs766093107
NM_004329.3(BMPR1A):c.64C>G (p.Gln22Glu) rs1554886821
NM_004329.3(BMPR1A):c.650G>A (p.Gly217Asp)
NM_004329.3(BMPR1A):c.650G>T (p.Gly217Val)
NM_004329.3(BMPR1A):c.650del (p.Gly217fs) rs1843504014
NM_004329.3(BMPR1A):c.651T>C (p.Gly217=)
NM_004329.3(BMPR1A):c.652A>G (p.Ser218Gly) rs1564721996
NM_004329.3(BMPR1A):c.653G>A (p.Ser218Asn) rs752893921
NM_004329.3(BMPR1A):c.653G>C (p.Ser218Thr) rs752893921
NM_004329.3(BMPR1A):c.654T>C (p.Ser218=)
NM_004329.3(BMPR1A):c.654T>G (p.Ser218Arg) rs1843504209
NM_004329.3(BMPR1A):c.656G>A (p.Gly219Glu) rs878854671
NM_004329.3(BMPR1A):c.657G>T (p.Gly219=) rs2133546041
NM_004329.3(BMPR1A):c.658T>A (p.Ser220Thr)
NM_004329.3(BMPR1A):c.662G>A (p.Gly221Glu) rs1564722001
NM_004329.3(BMPR1A):c.662G>T (p.Gly221Val) rs1564722001
NM_004329.3(BMPR1A):c.663A>C (p.Gly221=) rs1462920023
NM_004329.3(BMPR1A):c.664C>G (p.Leu222Val)
NM_004329.3(BMPR1A):c.667C>A (p.Pro223Thr) rs1843504441
NM_004329.3(BMPR1A):c.66A>C (p.Gln22His) rs786204152
NM_004329.3(BMPR1A):c.67+10T>C rs1842918456
NM_004329.3(BMPR1A):c.67+10T>G rs1842918456
NM_004329.3(BMPR1A):c.67+11G>A rs2133322178
NM_004329.3(BMPR1A):c.67+14C>G rs2133322204
NM_004329.3(BMPR1A):c.67+1G>A
NM_004329.3(BMPR1A):c.67+3077G>T
NM_004329.3(BMPR1A):c.67+6T>C
NM_004329.3(BMPR1A):c.67+7C>T
NM_004329.3(BMPR1A):c.67+7del rs2133322068
NM_004329.3(BMPR1A):c.67+8A>C rs2133322090
NM_004329.3(BMPR1A):c.67+8A>G rs2133322090
NM_004329.3(BMPR1A):c.67+8_67+9insATTT rs1589757121
NM_004329.3(BMPR1A):c.67+9G>A rs1060504909
NM_004329.3(BMPR1A):c.67+9G>C
NM_004329.3(BMPR1A):c.67+9G>T rs1060504909
NM_004329.3(BMPR1A):c.672A>G (p.Leu224=)
NM_004329.3(BMPR1A):c.674del (p.Leu225fs) rs1564722014
NM_004329.3(BMPR1A):c.675+11C>A
NM_004329.3(BMPR1A):c.675+11C>G
NM_004329.3(BMPR1A):c.675+11C>T
NM_004329.3(BMPR1A):c.675+15C>G
NM_004329.3(BMPR1A):c.675+15C>T
NM_004329.3(BMPR1A):c.675+16C>A
NM_004329.3(BMPR1A):c.675+17T>C rs757907606
NM_004329.3(BMPR1A):c.675+19T>C rs1057522182
NM_004329.3(BMPR1A):c.675+19T>G
NM_004329.3(BMPR1A):c.675+1G>C rs878854672
NM_004329.3(BMPR1A):c.675+1G>T
NM_004329.3(BMPR1A):c.675+2T>C
NM_004329.3(BMPR1A):c.675+6T>C rs1564722020
NM_004329.3(BMPR1A):c.675+7T>G rs1589288667
NM_004329.3(BMPR1A):c.675+8A>G rs1554890236
NM_004329.3(BMPR1A):c.675+8_675+14del rs2133546414
NM_004329.3(BMPR1A):c.675+9_675+10dup rs2133546467
NM_004329.3(BMPR1A):c.675G>A (p.Leu225=) rs1554890235
NM_004329.3(BMPR1A):c.675_675+1delinsTT
NM_004329.3(BMPR1A):c.676-11T>C rs2133574280
NM_004329.3(BMPR1A):c.676-16A>G
NM_004329.3(BMPR1A):c.676-17T>C
NM_004329.3(BMPR1A):c.676-18T>C
NM_004329.3(BMPR1A):c.676-19T>G rs1554890725
NM_004329.3(BMPR1A):c.676-1G>C rs1554890734
NM_004329.3(BMPR1A):c.676-5_676-4del
NM_004329.3(BMPR1A):c.676-6A>G rs186999445
NM_004329.3(BMPR1A):c.676-8C>A rs1554890727
NM_004329.3(BMPR1A):c.676-8C>T rs1554890727
NM_004329.3(BMPR1A):c.676-9del rs2133574252
NM_004329.3(BMPR1A):c.676-9dup
NM_004329.3(BMPR1A):c.676G>A (p.Val226Ile) rs587780110
NM_004329.3(BMPR1A):c.676G>C (p.Val226Leu) rs587780110
NM_004329.3(BMPR1A):c.68-10T>C
NM_004329.3(BMPR1A):c.68-10T>G rs2133394136
NM_004329.3(BMPR1A):c.68-13T>C rs1564714744
NM_004329.3(BMPR1A):c.68-14A>C
NM_004329.3(BMPR1A):c.68-14A>G rs1176229658
NM_004329.3(BMPR1A):c.68-14A>T rs1176229658
NM_004329.3(BMPR1A):c.68-14del
NM_004329.3(BMPR1A):c.68-16C>T
NM_004329.3(BMPR1A):c.68-19A>C
NM_004329.3(BMPR1A):c.68-1G>A rs1131691174
NM_004329.3(BMPR1A):c.68-20A>C rs750599523
NM_004329.3(BMPR1A):c.68-3710_68-3696delinsCC
NM_004329.3(BMPR1A):c.68-5T>C rs1060504902
NM_004329.3(BMPR1A):c.68-8G>C
NM_004329.3(BMPR1A):c.68-9T>A
NM_004329.3(BMPR1A):c.68-9T>C
NM_004329.3(BMPR1A):c.680A>G (p.Gln227Arg)
NM_004329.3(BMPR1A):c.682C>T (p.Arg228Ter) rs587782682
NM_004329.3(BMPR1A):c.683G>A (p.Arg228Gln) rs747371306
NM_004329.3(BMPR1A):c.689T>C (p.Ile230Thr) rs1843582763
NM_004329.3(BMPR1A):c.693C>G (p.Ala231=) rs1060504906
NM_004329.3(BMPR1A):c.693C>T (p.Ala231=) rs1060504906
NM_004329.3(BMPR1A):c.695A>G (p.Lys232Arg) rs587781341
NM_004329.3(BMPR1A):c.696A>G (p.Lys232=) rs2133574769
NM_004329.3(BMPR1A):c.697C>T (p.Gln233Ter) rs1554890743
NM_004329.3(BMPR1A):c.69A>G (p.Gly23=) rs780227469
NM_004329.3(BMPR1A):c.700A>G (p.Ile234Val) rs2133574845
NM_004329.3(BMPR1A):c.701T>G (p.Ile234Ser)
NM_004329.3(BMPR1A):c.703C>G (p.Gln235Glu) rs1554890745
NM_004329.3(BMPR1A):c.705G>A (p.Gln235=) rs780907902
NM_004329.3(BMPR1A):c.705G>C (p.Gln235His) rs780907902
NM_004329.3(BMPR1A):c.705G>T (p.Gln235His) rs780907902
NM_004329.3(BMPR1A):c.706A>G (p.Met236Val)
NM_004329.3(BMPR1A):c.707T>C (p.Met236Thr) rs1347027954
NM_004329.3(BMPR1A):c.708G>A (p.Met236Ile) rs1564723344
NM_004329.3(BMPR1A):c.708G>C (p.Met236Ile)
NM_004329.3(BMPR1A):c.70C>T (p.Gln24Ter)
NM_004329.3(BMPR1A):c.710T>C (p.Val237Ala) rs1843583262
NM_004329.3(BMPR1A):c.711C>A (p.Val237=) rs1554890747
NM_004329.3(BMPR1A):c.712C>G (p.Arg238Gly) rs747728399
NM_004329.3(BMPR1A):c.712C>T (p.Arg238Trp) rs747728399
NM_004329.3(BMPR1A):c.714G>A (p.Arg238=) rs1554890752
NM_004329.3(BMPR1A):c.715C>A (p.Gln239Lys) rs199476084
NM_004329.3(BMPR1A):c.716A>C (p.Gln239Pro) rs2133575200
NM_004329.3(BMPR1A):c.717A>C (p.Gln239His) rs1589290669
NM_004329.3(BMPR1A):c.718G>A (p.Val240Ile) rs1060503405
NM_004329.3(BMPR1A):c.71A>G (p.Gln24Arg) rs1163365235
NM_004329.3(BMPR1A):c.722G>C (p.Gly241Ala) rs1554890758
NM_004329.3(BMPR1A):c.726A>G (p.Lys242=) rs876659766
NM_004329.3(BMPR1A):c.729C>G (p.Gly243=)
NM_004329.3(BMPR1A):c.729C>T (p.Gly243=) rs770821763
NM_004329.3(BMPR1A):c.730C>T (p.Arg244Ter) rs759363072
NM_004329.3(BMPR1A):c.731dup (p.Tyr245fs) rs1554890759
NM_004329.3(BMPR1A):c.732A>T (p.Arg244=) rs1554890761
NM_004329.3(BMPR1A):c.733T>A (p.Tyr245Asn) rs369012159
NM_004329.3(BMPR1A):c.733T>C (p.Tyr245His) rs369012159
NM_004329.3(BMPR1A):c.734A>G (p.Tyr245Cys)
NM_004329.3(BMPR1A):c.734A>T (p.Tyr245Phe) rs1589290688
NM_004329.3(BMPR1A):c.735T>C (p.Tyr245=) rs1131691182
NM_004329.3(BMPR1A):c.735T>G (p.Tyr245Ter) rs1131691182
NM_004329.3(BMPR1A):c.741A>C (p.Glu247Asp) rs1843584257
NM_004329.3(BMPR1A):c.744A>G (p.Val248=) rs1060504910
NM_004329.3(BMPR1A):c.745T>C (p.Trp249Arg) rs1006323095
NM_004329.3(BMPR1A):c.746G>A (p.Trp249Ter)
NM_004329.3(BMPR1A):c.748A>G (p.Met250Val) rs762087997
NM_004329.3(BMPR1A):c.74A>C (p.Asn25Thr) rs1060503410
NM_004329.3(BMPR1A):c.750G>A (p.Met250Ile) rs1564723388
NM_004329.3(BMPR1A):c.752G>A (p.Gly251Asp) rs1554890768
NM_004329.3(BMPR1A):c.755A>G (p.Lys252Arg) rs1554890769
NM_004329.3(BMPR1A):c.757_771del (p.Trp253_Lys257del)
NM_004329.3(BMPR1A):c.760C>G (p.Arg254Gly)
NM_004329.3(BMPR1A):c.761G>C (p.Arg254Pro) rs766908700
NM_004329.3(BMPR1A):c.761G>T (p.Arg254Leu) rs766908700
NM_004329.3(BMPR1A):c.763G>A (p.Gly255Ser)
NM_004329.3(BMPR1A):c.764G>A (p.Gly255Asp) rs1843585065
NM_004329.3(BMPR1A):c.764G>C (p.Gly255Ala)
NM_004329.3(BMPR1A):c.76C>G (p.Leu26Val)
NM_004329.3(BMPR1A):c.76C>T (p.Leu26=)
NM_004329.3(BMPR1A):c.771A>G (p.Lys257=)
NM_004329.3(BMPR1A):c.771del (p.Val258fs) rs878854673
NM_004329.3(BMPR1A):c.773T>C (p.Val258Ala) rs1589290731
NM_004329.3(BMPR1A):c.776C>T (p.Ala259Val) rs905457708
NM_004329.3(BMPR1A):c.777G>T (p.Ala259=)
NM_004329.3(BMPR1A):c.778G>A (p.Val260Met) rs2133576357
NM_004329.3(BMPR1A):c.778G>T (p.Val260Leu) rs2133576357
NM_004329.3(BMPR1A):c.778_780del (p.Val260del) rs1843585989
NM_004329.3(BMPR1A):c.779T>C (p.Val260Ala)
NM_004329.3(BMPR1A):c.783A>G (p.Lys261=) rs2133576468
NM_004329.3(BMPR1A):c.785T>C (p.Val262Ala) rs770830310
NM_004329.3(BMPR1A):c.787T>C (p.Phe263Leu)
NM_004329.3(BMPR1A):c.789C>G (p.Phe263Leu) rs771932684
NM_004329.3(BMPR1A):c.790T>C (p.Phe264Leu)
NM_004329.3(BMPR1A):c.792T>C (p.Phe264=) rs2133576664
NM_004329.3(BMPR1A):c.794C>A (p.Thr265Asn)
NM_004329.3(BMPR1A):c.794C>T (p.Thr265Ile) rs1064793937
NM_004329.3(BMPR1A):c.795C>T (p.Thr265=) rs1843586772
NM_004329.3(BMPR1A):c.796A>G (p.Thr266Ala) rs1273972467
NM_004329.3(BMPR1A):c.797C>G (p.Thr266Ser) rs1554890797
NM_004329.3(BMPR1A):c.797C>T (p.Thr266Ile) rs1554890797
NM_004329.3(BMPR1A):c.79G>T (p.Asp27Tyr) rs1430886611
NM_004329.3(BMPR1A):c.7C>G (p.Gln3Glu) rs1589757055
NM_004329.3(BMPR1A):c.801A>C (p.Glu267Asp) rs2133576868
NM_004329.3(BMPR1A):c.805G>A (p.Ala269Thr) rs2133576894
NM_004329.3(BMPR1A):c.806C>G (p.Ala269Gly)
NM_004329.3(BMPR1A):c.806C>T (p.Ala269Val) rs1843587139
NM_004329.3(BMPR1A):c.809G>A (p.Ser270Asn)
NM_004329.3(BMPR1A):c.809G>C (p.Ser270Thr)
NM_004329.3(BMPR1A):c.80A>G (p.Asp27Gly) rs1589763296
NM_004329.3(BMPR1A):c.813G>A (p.Trp271Ter) rs1589290773
NM_004329.3(BMPR1A):c.813del (p.Trp271fs) rs2133577022
NM_004329.3(BMPR1A):c.817C>T (p.Arg273Ter) rs587782400
NM_004329.3(BMPR1A):c.818G>T (p.Arg273Leu) rs762178061
NM_004329.3(BMPR1A):c.81T>C (p.Asp27=) rs1589763301
NM_004329.3(BMPR1A):c.823A>G (p.Thr275Ala)
NM_004329.3(BMPR1A):c.825A>C (p.Thr275=) rs1345972234
NM_004329.3(BMPR1A):c.826_827del (p.Glu276fs) rs587781928
NM_004329.3(BMPR1A):c.827A>C (p.Glu276Ala) rs1843587797
NM_004329.3(BMPR1A):c.828A>G (p.Glu276=) rs1554890804
NM_004329.3(BMPR1A):c.829A>G (p.Ile277Val) rs1060503400
NM_004329.3(BMPR1A):c.829del (p.Ile277fs) rs2133577213
NM_004329.3(BMPR1A):c.82A>G (p.Ser28Gly) rs1170582171
NM_004329.3(BMPR1A):c.830T>A (p.Ile277Asn) rs2133577296
NM_004329.3(BMPR1A):c.831C>A (p.Ile277=) rs876659520
NM_004329.3(BMPR1A):c.834C>A (p.Tyr278Ter) rs1230919713
NM_004329.3(BMPR1A):c.834C>G (p.Tyr278Ter) rs1230919713
NM_004329.3(BMPR1A):c.834C>T (p.Tyr278=) rs1230919713
NM_004329.3(BMPR1A):c.839C>G (p.Thr280Ser) rs1064793497
NM_004329.3(BMPR1A):c.841G>A (p.Val281Met) rs141625907
NM_004329.3(BMPR1A):c.842T>C (p.Val281Ala)
NM_004329.3(BMPR1A):c.842_843del (p.Val281fs)
NM_004329.3(BMPR1A):c.843G>A (p.Val281=) rs2133577512
NM_004329.3(BMPR1A):c.845T>G (p.Leu282Arg)
NM_004329.3(BMPR1A):c.846A>G (p.Leu282=) rs1843588559
NM_004329.3(BMPR1A):c.847dup (p.Met283fs) rs1564723486
NM_004329.3(BMPR1A):c.850C>G (p.Arg284Gly)
NM_004329.3(BMPR1A):c.850C>T (p.Arg284Cys) rs765530074
NM_004329.3(BMPR1A):c.851G>A (p.Arg284His)
NM_004329.3(BMPR1A):c.852C>A (p.Arg284=) rs2133577692
NM_004329.3(BMPR1A):c.855T>G (p.His285Gln) rs1843588940
NM_004329.3(BMPR1A):c.857A>T (p.Glu286Val)
NM_004329.3(BMPR1A):c.858A>C (p.Glu286Asp)
NM_004329.3(BMPR1A):c.85A>G (p.Met29Val)
NM_004329.3(BMPR1A):c.862A>G (p.Ile288Val)
NM_004329.3(BMPR1A):c.864dup (p.Leu289fs) rs1554890815
NM_004329.3(BMPR1A):c.866T>G (p.Leu289Arg) rs2133577872
NM_004329.3(BMPR1A):c.868+10C>T
NM_004329.3(BMPR1A):c.868+11A>G
NM_004329.3(BMPR1A):c.868+11dup
NM_004329.3(BMPR1A):c.868+12C>A
NM_004329.3(BMPR1A):c.868+12C>G rs752136386
NM_004329.3(BMPR1A):c.868+12C>T
NM_004329.3(BMPR1A):c.868+13T>C
NM_004329.3(BMPR1A):c.868+13T>G
NM_004329.3(BMPR1A):c.868+18C>A
NM_004329.3(BMPR1A):c.868+18C>G rs1843589818
NM_004329.3(BMPR1A):c.868+1G>A rs1589290813
NM_004329.3(BMPR1A):c.868+20G>T
NM_004329.3(BMPR1A):c.868+20_868+23del
NM_004329.3(BMPR1A):c.868+3G>C rs1411249361
NM_004329.3(BMPR1A):c.868+3_868+6del
NM_004329.3(BMPR1A):c.868+5G>A
NM_004329.3(BMPR1A):c.868+7A>G rs1554890819
NM_004329.3(BMPR1A):c.868+8C>G rs1843589393
NM_004329.3(BMPR1A):c.868+8C>T rs1843589393
NM_004329.3(BMPR1A):c.868+9A>C rs766298777
NM_004329.3(BMPR1A):c.869-13A>T rs2133588722
NM_004329.3(BMPR1A):c.869-14C>G rs527270742
NM_004329.3(BMPR1A):c.869-15T>C
NM_004329.3(BMPR1A):c.869-16C>T rs1843620381
NM_004329.3(BMPR1A):c.869-2_871del rs1564724111
NM_004329.3(BMPR1A):c.869-5G>C
NM_004329.3(BMPR1A):c.869-6G>A rs1843620547
NM_004329.3(BMPR1A):c.869-7_869-6insTG
NM_004329.3(BMPR1A):c.869-8C>G rs1843620485
NM_004329.3(BMPR1A):c.869-8C>T rs1843620485
NM_004329.3(BMPR1A):c.869-9A>G rs2133588734
NM_004329.3(BMPR1A):c.869G>A (p.Gly290Asp) rs876660596
NM_004329.3(BMPR1A):c.869G>C (p.Gly290Ala) rs876660596
NM_004329.3(BMPR1A):c.86T>C (p.Met29Thr) rs2133394352
NM_004329.3(BMPR1A):c.874A>T (p.Ile292Leu) rs746800007
NM_004329.3(BMPR1A):c.875T>C (p.Ile292Thr) rs2133588959
NM_004329.3(BMPR1A):c.878C>T (p.Ala293Val) rs1589291509
NM_004329.3(BMPR1A):c.879G>C (p.Ala293=) rs770203548
NM_004329.3(BMPR1A):c.879G>T (p.Ala293=)
NM_004329.3(BMPR1A):c.886A>G (p.Ile296Val) rs1554891019
NM_004329.3(BMPR1A):c.887T>C (p.Ile296Thr) rs1554891022
NM_004329.3(BMPR1A):c.888T>C (p.Ile296=) rs2133589202
NM_004329.3(BMPR1A):c.889A>T (p.Lys297Ter)
NM_004329.3(BMPR1A):c.88C>T (p.Leu30Phe)
NM_004329.3(BMPR1A):c.890A>G (p.Lys297Arg) rs2133589242
NM_004329.3(BMPR1A):c.892G>A (p.Gly298Ser) rs1564724125
NM_004329.3(BMPR1A):c.892G>T (p.Gly298Cys)
NM_004329.3(BMPR1A):c.894T>C (p.Gly298=) rs1589291531
NM_004329.3(BMPR1A):c.895A>G (p.Thr299Ala) rs876660756
NM_004329.3(BMPR1A):c.897_1029del (p.Gly300fs) rs1843621548
NM_004329.3(BMPR1A):c.89T>G (p.Leu30Arg) rs1194403044
NM_004329.3(BMPR1A):c.8A>G (p.Gln3Arg)
NM_004329.3(BMPR1A):c.901T>A (p.Ser301Thr) rs983870066
NM_004329.3(BMPR1A):c.902C>A (p.Ser301Tyr) rs876660939
NM_004329.3(BMPR1A):c.903C>G (p.Ser301=) rs1843621876
NM_004329.3(BMPR1A):c.905G>A (p.Trp302Ter) rs1589291548
NM_004329.3(BMPR1A):c.907A>G (p.Thr303Ala) rs1554891025
NM_004329.3(BMPR1A):c.909T>C (p.Thr303=) rs1554891026
NM_004329.3(BMPR1A):c.910C>A (p.Gln304Lys) rs1404557708
NM_004329.3(BMPR1A):c.910C>T (p.Gln304Ter) rs1404557708
NM_004329.3(BMPR1A):c.915C>T (p.Leu305=)
NM_004329.3(BMPR1A):c.917A>G (p.Tyr306Cys) rs955604329
NM_004329.3(BMPR1A):c.917_920dup (p.Ile308fs) rs1554891032
NM_004329.3(BMPR1A):c.919T>G (p.Leu307Val) rs1843622475
NM_004329.3(BMPR1A):c.921G>C (p.Leu307Phe) rs1843622524
NM_004329.3(BMPR1A):c.924T>A (p.Ile308=)
NM_004329.3(BMPR1A):c.924del (p.Thr309fs) rs2133589910
NM_004329.3(BMPR1A):c.927T>C (p.Thr309=) rs779691540
NM_004329.3(BMPR1A):c.929A>C (p.Asp310Ala) rs2133589997
NM_004329.3(BMPR1A):c.92A>C (p.His31Pro) rs1589763313
NM_004329.3(BMPR1A):c.92A>G (p.His31Arg) rs1589763313
NM_004329.3(BMPR1A):c.930T>C (p.Asp310=)
NM_004329.3(BMPR1A):c.933C>T (p.Tyr311=) rs1554891035
NM_004329.3(BMPR1A):c.934C>G (p.His312Asp)
NM_004329.3(BMPR1A):c.934C>T (p.His312Tyr) rs1437385150
NM_004329.3(BMPR1A):c.934del (p.His312fs) rs1060503408
NM_004329.3(BMPR1A):c.935A>G (p.His312Arg) rs2133590084
NM_004329.3(BMPR1A):c.940A>C (p.Asn314His)
NM_004329.3(BMPR1A):c.941A>G (p.Asn314Ser) rs1564724169
NM_004329.3(BMPR1A):c.942T>C (p.Asn314=) rs2133590193
NM_004329.3(BMPR1A):c.943G>A (p.Gly315Arg) rs730881435
NM_004329.3(BMPR1A):c.944G>A (p.Gly315Glu)
NM_004329.3(BMPR1A):c.945A>G (p.Gly315=)
NM_004329.3(BMPR1A):c.946T>A (p.Ser316Thr) rs1554891039
NM_004329.3(BMPR1A):c.949C>A (p.Leu317Ile) rs1589291581
NM_004329.3(BMPR1A):c.949C>G (p.Leu317Val) rs1589291581
NM_004329.3(BMPR1A):c.949_952del (p.Leu317fs) rs1060503409
NM_004329.3(BMPR1A):c.951C>G (p.Leu317=) rs908671564
NM_004329.3(BMPR1A):c.952T>C (p.Tyr318His) rs2133590474
NM_004329.3(BMPR1A):c.953A>C (p.Tyr318Ser) rs587778111
NM_004329.3(BMPR1A):c.953A>G (p.Tyr318Cys) rs587778111
NM_004329.3(BMPR1A):c.954T>C (p.Tyr318=) rs2133590537
NM_004329.3(BMPR1A):c.954dup (p.Asp319Ter) rs1843623596
NM_004329.3(BMPR1A):c.957dup (p.Phe320fs) rs1554891043
NM_004329.3(BMPR1A):c.95G>A (p.Gly32Asp) rs1843125149
NM_004329.3(BMPR1A):c.960C>G (p.Phe320Leu) rs1564724183
NM_004329.3(BMPR1A):c.963G>A (p.Leu321=)
NM_004329.3(BMPR1A):c.965A>G (p.Lys322Arg) rs2133590752
NM_004329.3(BMPR1A):c.967T>A (p.Cys323Ser) rs876660750
NM_004329.3(BMPR1A):c.967T>C (p.Cys323Arg) rs876660750
NM_004329.3(BMPR1A):c.967T>G (p.Cys323Gly) rs876660750
NM_004329.3(BMPR1A):c.968G>A (p.Cys323Tyr) rs187780646
NM_004329.3(BMPR1A):c.969T>C (p.Cys323=) rs1589291609
NM_004329.3(BMPR1A):c.96C>T (p.Gly32=)
NM_004329.3(BMPR1A):c.971C>T (p.Ala324Val)
NM_004329.3(BMPR1A):c.973A>G (p.Thr325Ala) rs1554891047
NM_004329.3(BMPR1A):c.973_980del (p.Thr325fs)
NM_004329.3(BMPR1A):c.975A>C (p.Thr325=)
NM_004329.3(BMPR1A):c.975A>T (p.Thr325=)
NM_004329.3(BMPR1A):c.976C>T (p.Leu326=)
NM_004329.3(BMPR1A):c.978G>A (p.Leu326=)
NM_004329.3(BMPR1A):c.979G>A (p.Asp327Asn) rs1843624502
NM_004329.3(BMPR1A):c.97dup (p.Thr33fs) rs2133394533
NM_004329.3(BMPR1A):c.982A>C (p.Thr328Pro) rs2133591098
NM_004329.3(BMPR1A):c.982A>G (p.Thr328Ala)
NM_004329.3(BMPR1A):c.984C>A (p.Thr328=) rs981282948
NM_004329.3(BMPR1A):c.984C>T (p.Thr328=)
NM_004329.3(BMPR1A):c.985_991del (p.Arg329fs)
NM_004329.3(BMPR1A):c.986G>A (p.Arg329Lys) rs1554891054
NM_004329.3(BMPR1A):c.986G>C (p.Arg329Thr) rs1554891054
NM_004329.3(BMPR1A):c.988G>A (p.Ala330Thr) rs927151124
NM_004329.3(BMPR1A):c.989C>T (p.Ala330Val) rs587782092
NM_004329.3(BMPR1A):c.98C>T (p.Thr33Ile)
NM_004329.3(BMPR1A):c.990C>G (p.Ala330=) rs199808362
NM_004329.3(BMPR1A):c.990C>T (p.Ala330=) rs199808362
NM_004329.3(BMPR1A):c.991C>T (p.Leu331=)
NM_004329.3(BMPR1A):c.993G>A (p.Leu331=) rs786202827
NM_004329.3(BMPR1A):c.994C>T (p.Leu332Phe) rs2133591377
NM_004329.3(BMPR1A):c.997A>C (p.Lys333Gln)
NM_004329.3(BMPR1A):c.997A>G (p.Lys333Glu)
NM_004329.3(BMPR1A):c.99T>C (p.Thr33=)
NM_004329.3(BMPR1A):c.9G>A (p.Gln3=) rs1589757057
NM_004329.3(BMPR1A):c.9G>C (p.Gln3His) rs1589757057
NM_005359.5(SMAD4):c.731_732insGCCC(p.Gln245Profs) rs377767335
NM_005359.6(SMAD4):c.-5_3del (p.Met1fs) rs2144400060
NM_005359.6(SMAD4):c.1001A>G (p.Gln334Arg)
NM_005359.6(SMAD4):c.1002G>C (p.Gln334His) rs773598775
NM_005359.6(SMAD4):c.1002G>T (p.Gln334His) rs773598775
NM_005359.6(SMAD4):c.1004_1006dup (p.Val335_Gly336insVal)
NM_005359.6(SMAD4):c.1007G>A (p.Gly336Glu) rs1060500732
NM_005359.6(SMAD4):c.1008A>G (p.Gly336=) rs1555686461
NM_005359.6(SMAD4):c.1010A>G (p.Glu337Gly)
NM_005359.6(SMAD4):c.1010del (p.Glu337fs)
NM_005359.6(SMAD4):c.1011G>A (p.Glu337=)
NM_005359.6(SMAD4):c.1013C>G (p.Thr338Arg) rs2144446765
NM_005359.6(SMAD4):c.1014A>G (p.Thr338=) rs1057520443
NM_005359.6(SMAD4):c.1014A>T (p.Thr338=)
NM_005359.6(SMAD4):c.1017dup (p.Lys340Ter) rs2144446798
NM_005359.6(SMAD4):c.1018A>G (p.Lys340Glu) rs1599195392
NM_005359.6(SMAD4):c.1023del (p.Pro342fs) rs1555686469
NM_005359.6(SMAD4):c.1025C>T (p.Pro342Leu) rs2144446883
NM_005359.6(SMAD4):c.1028C>G (p.Ser343Ter) rs1599195400
NM_005359.6(SMAD4):c.102A>T (p.Thr34=) rs146104321
NM_005359.6(SMAD4):c.1030A>G (p.Ser344Gly) rs1568208203
NM_005359.6(SMAD4):c.1034G>A (p.Cys345Tyr)
NM_005359.6(SMAD4):c.1034G>C (p.Cys345Ser) rs2144446938
NM_005359.6(SMAD4):c.1035C>T (p.Cys345=) rs1555686471
NM_005359.6(SMAD4):c.1036C>A (p.Pro346Thr)
NM_005359.6(SMAD4):c.1036C>G (p.Pro346Ala) rs2144446966
NM_005359.6(SMAD4):c.1037C>G (p.Pro346Arg) rs1910122147
NM_005359.6(SMAD4):c.1037del (p.Pro346fs) rs377767343
NM_005359.6(SMAD4):c.1041T>C (p.Ile347=)
NM_005359.6(SMAD4):c.1041T>G (p.Ile347Met) rs905881679
NM_005359.6(SMAD4):c.1042G>A (p.Val348Ile) rs1910122648
NM_005359.6(SMAD4):c.1047T>A (p.Thr349=)
NM_005359.6(SMAD4):c.1049T>C (p.Val350Ala)
NM_005359.6(SMAD4):c.104T>A (p.Phe35Tyr) rs786202127
NM_005359.6(SMAD4):c.1050T>C (p.Val350=) rs1599195447
NM_005359.6(SMAD4):c.1050T>G (p.Val350=) rs1599195447
NM_005359.6(SMAD4):c.1052A>T (p.Asp351Val) rs1060500741
NM_005359.6(SMAD4):c.1054G>A (p.Gly352Arg) rs121912581
NM_005359.6(SMAD4):c.1056A>C (p.Gly352=) rs2144447164
NM_005359.6(SMAD4):c.1058A>G (p.Tyr353Cys) rs377767346
NM_005359.6(SMAD4):c.1058A>T (p.Tyr353Phe)
NM_005359.6(SMAD4):c.1060G>A (p.Val354Met) rs1910123378
NM_005359.6(SMAD4):c.1063G>A (p.Asp355Asn)
NM_005359.6(SMAD4):c.1063_1064insGACCCTTCTGGAGGAGATCGCTTTTGTTTGGGTCAACTCTCCAATGTCCACAGGACAGAAGCCATTGAGAGAGCAAGGTATTGATTG (p.Asp355delinsGlyProPheTrpArgArgSerLeuLeuPheGlySerThrLeuGlnCysProGlnAspArgSerHisTer) rs1599195477
NM_005359.6(SMAD4):c.1067del (p.Pro356fs) rs1599195489
NM_005359.6(SMAD4):c.1067dup (p.Ser357fs) rs1599195489
NM_005359.6(SMAD4):c.1069T>C (p.Ser357Pro)
NM_005359.6(SMAD4):c.1070C>T (p.Ser357Phe) rs2144447300
NM_005359.6(SMAD4):c.1072G>A (p.Gly358Arg) rs121912576
NM_005359.6(SMAD4):c.1075G>C (p.Gly359Arg) rs1555686486
NM_005359.6(SMAD4):c.1078G>C (p.Asp360His) rs1910123913
NM_005359.6(SMAD4):c.1080T>C (p.Asp360=) rs2144447389
NM_005359.6(SMAD4):c.1081C>A (p.Arg361Ser) rs80338963
NM_005359.6(SMAD4):c.1081C>G (p.Arg361Gly) rs80338963
NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys) rs80338963
NM_005359.6(SMAD4):c.1082G>A (p.Arg361His) rs377767347
NM_005359.6(SMAD4):c.1087T>G (p.Cys363Gly) rs377767348
NM_005359.6(SMAD4):c.1088G>A (p.Cys363Tyr) rs876660556
NM_005359.6(SMAD4):c.108A>G (p.Ala36=) rs1599181126
NM_005359.6(SMAD4):c.1090T>C (p.Leu364=) rs1568208261
NM_005359.6(SMAD4):c.1091T>C (p.Leu364Ser)
NM_005359.6(SMAD4):c.1091T>G (p.Leu364Trp) rs377767350
NM_005359.6(SMAD4):c.1096C>T (p.Gln366Ter) rs1060500733
NM_005359.6(SMAD4):c.1099C>G (p.Leu367Val)
NM_005359.6(SMAD4):c.1101C>A (p.Leu367=) rs765051479
NM_005359.6(SMAD4):c.1103C>T (p.Ser368Phe) rs1910125223
NM_005359.6(SMAD4):c.110A>G (p.Lys37Arg)
NM_005359.6(SMAD4):c.1112A>G (p.His371Arg) rs1910125636
NM_005359.6(SMAD4):c.1113C>T (p.His371=) rs751470394
NM_005359.6(SMAD4):c.1118C>T (p.Thr373Ile)
NM_005359.6(SMAD4):c.1119A>T (p.Thr373=) rs1166695591
NM_005359.6(SMAD4):c.1122A>G (p.Glu374=) rs373141146
NM_005359.6(SMAD4):c.1123G>A (p.Ala375Thr)
NM_005359.6(SMAD4):c.1125C>T (p.Ala375=) rs1060504023
NM_005359.6(SMAD4):c.1125_1128dup (p.Glu377delinsHisTer) rs2144447925
NM_005359.6(SMAD4):c.1126A>G (p.Ile376Val) rs1555686501
NM_005359.6(SMAD4):c.1127T>C (p.Ile376Thr)
NM_005359.6(SMAD4):c.1128T>C (p.Ile376=) rs2144447941
NM_005359.6(SMAD4):c.112del (p.Arg38fs) rs2144400967
NM_005359.6(SMAD4):c.1134_1135del (p.Arg378fs) rs1555686503
NM_005359.6(SMAD4):c.1138A>G (p.Arg380Gly) rs1568208291
NM_005359.6(SMAD4):c.1138A>T (p.Arg380Trp) rs1568208291
NM_005359.6(SMAD4):c.1138del (p.Arg380fs) rs1555686506
NM_005359.6(SMAD4):c.1139+10G>A rs1324590608
NM_005359.6(SMAD4):c.1139+12A>G rs2144448157
NM_005359.6(SMAD4):c.1139+13T>A rs752709023
NM_005359.6(SMAD4):c.1139+13T>C
NM_005359.6(SMAD4):c.1139+14A>C
NM_005359.6(SMAD4):c.1139+17C>T rs1568208314
NM_005359.6(SMAD4):c.1139+18A>C rs1266383179
NM_005359.6(SMAD4):c.1139+18A>G
NM_005359.6(SMAD4):c.1139+1G>A rs377767354
NM_005359.6(SMAD4):c.1139+1_1139+4dup
NM_005359.6(SMAD4):c.1139+3A>G rs786202607
NM_005359.6(SMAD4):c.1139+9T>G
NM_005359.6(SMAD4):c.1139+9_1139+21del
NM_005359.6(SMAD4):c.1139G>A (p.Arg380Lys) rs377767353
NM_005359.6(SMAD4):c.1140-10T>A rs186332162
NM_005359.6(SMAD4):c.1140-10del rs763877987
NM_005359.6(SMAD4):c.1140-13T>C
NM_005359.6(SMAD4):c.1140-15T>A rs2144451541
NM_005359.6(SMAD4):c.1140-16C>A rs1057521669
NM_005359.6(SMAD4):c.1140-16_1140-15del
NM_005359.6(SMAD4):c.1140-1G>T
NM_005359.6(SMAD4):c.1140-20A>G rs1910177996
NM_005359.6(SMAD4):c.1140-2A>C rs1568208715
NM_005359.6(SMAD4):c.1140-36_1140-19del rs1064795613
NM_005359.6(SMAD4):c.1140-3A>C rs956212866
NM_005359.6(SMAD4):c.1140-3A>T
NM_005359.6(SMAD4):c.1140-4T>C rs1057521045
NM_005359.6(SMAD4):c.1140-5C>G rs1599196891
NM_005359.6(SMAD4):c.1140-5C>T rs1599196891
NM_005359.6(SMAD4):c.1140-6C>T rs1599196889
NM_005359.6(SMAD4):c.1140-8T>A rs2144451587
NM_005359.6(SMAD4):c.1140-9C>A
NM_005359.6(SMAD4):c.1142T>A (p.Leu381Ter) rs863224507
NM_005359.6(SMAD4):c.1145A>C (p.His382Pro)
NM_005359.6(SMAD4):c.1146C>T (p.His382=) rs1599196919
NM_005359.6(SMAD4):c.1148T>C (p.Ile383Thr) rs377767355
NM_005359.6(SMAD4):c.1149A>G (p.Ile383Met) rs2144451738
NM_005359.6(SMAD4):c.1154A>C (p.Lys385Thr) rs923348055
NM_005359.6(SMAD4):c.1154A>G (p.Lys385Arg) rs923348055
NM_005359.6(SMAD4):c.1156G>A (p.Gly386Ser) rs1057519962
NM_005359.6(SMAD4):c.1159G>A (p.Val387Met) rs1010877617
NM_005359.6(SMAD4):c.1161G>A (p.Val387=)
NM_005359.6(SMAD4):c.1162C>T (p.Gln388Ter) rs80338964
NM_005359.6(SMAD4):c.1165T>C (p.Leu389=)
NM_005359.6(SMAD4):c.1166_1167del (p.Gln388_Leu389insTer) rs1555686600
NM_005359.6(SMAD4):c.1171T>C (p.Cys391Arg)
NM_005359.6(SMAD4):c.1172G>A (p.Cys391Tyr) rs2144451919
NM_005359.6(SMAD4):c.1176dup (p.Gly393fs) rs2144451929
NM_005359.6(SMAD4):c.117A>G (p.Ala39=)
NM_005359.6(SMAD4):c.1185T>G (p.Gly395=) rs2144452007
NM_005359.6(SMAD4):c.1186G>A (p.Asp396Asn) rs2144452017
NM_005359.6(SMAD4):c.1189G>A (p.Val397Ile) rs2144452046
NM_005359.6(SMAD4):c.118A>G (p.Ile40Val) rs878854764
NM_005359.6(SMAD4):c.1193G>A (p.Trp398Ter) rs377767357
NM_005359.6(SMAD4):c.1194G>A (p.Trp398Ter) rs1599196995
NM_005359.6(SMAD4):c.1196T>A (p.Val399Asp) rs1910180431
NM_005359.6(SMAD4):c.1197C>T (p.Val399=) rs2144452098
NM_005359.6(SMAD4):c.1198A>G (p.Arg400Gly) rs1910180511
NM_005359.6(SMAD4):c.1198del (p.Arg400fs) rs1060500734
NM_005359.6(SMAD4):c.11T>C (p.Met4Thr) rs2144400196
NM_005359.6(SMAD4):c.1200G>A (p.Arg400=) rs876658516
NM_005359.6(SMAD4):c.1200G>T (p.Arg400Ser) rs876658516
NM_005359.6(SMAD4):c.1201T>C (p.Cys401Arg) rs1910180767
NM_005359.6(SMAD4):c.1201dup (p.Cys401fs) rs1555686604
NM_005359.6(SMAD4):c.1204C>A (p.Leu402Ile)
NM_005359.6(SMAD4):c.1206T>A (p.Leu402=) rs758696549
NM_005359.6(SMAD4):c.1206T>C (p.Leu402=) rs758696549
NM_005359.6(SMAD4):c.1206dup (p.Ser403Ter) rs878854765
NM_005359.6(SMAD4):c.1207A>G (p.Ser403Gly) rs2144452187
NM_005359.6(SMAD4):c.1209T>C (p.Ser403=) rs2144452200
NM_005359.6(SMAD4):c.1212C>A (p.Asp404Glu)
NM_005359.6(SMAD4):c.1212C>G (p.Asp404Glu)
NM_005359.6(SMAD4):c.1217C>T (p.Ala406Val) rs1064796102
NM_005359.6(SMAD4):c.1218G>T (p.Ala406=) rs145097078
NM_005359.6(SMAD4):c.121G>T (p.Glu41Ter)
NM_005359.6(SMAD4):c.1221C>G (p.Val407=) rs2144452307
NM_005359.6(SMAD4):c.1223T>G (p.Phe408Cys)
NM_005359.6(SMAD4):c.1224T>C (p.Phe408=) rs2144452331
NM_005359.6(SMAD4):c.1226T>C (p.Val409Ala) rs1555686607
NM_005359.6(SMAD4):c.1227A>C (p.Val409=)
NM_005359.6(SMAD4):c.1227A>G (p.Val409=) rs2144452352
NM_005359.6(SMAD4):c.1227A>T (p.Val409=)
NM_005359.6(SMAD4):c.1228_1229del (p.Gln410fs) rs1555686608
NM_005359.6(SMAD4):c.1230G>A (p.Gln410=) rs1599197071
NM_005359.6(SMAD4):c.1231_1232del (p.Ser411fs) rs730881952
NM_005359.6(SMAD4):c.1232G>A (p.Ser411Asn) rs2144452401
NM_005359.6(SMAD4):c.1234T>C (p.Tyr412His)
NM_005359.6(SMAD4):c.1237T>G (p.Tyr413Asp) rs1910182791
NM_005359.6(SMAD4):c.1237_1245del (p.Tyr413_Asp415del)
NM_005359.6(SMAD4):c.1239C>A (p.Tyr413Ter) rs730881954
NM_005359.6(SMAD4):c.1239C>G (p.Tyr413Ter) rs730881954
NM_005359.6(SMAD4):c.1242del (p.Asp415fs) rs377767358
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs) rs80338965
NM_005359.6(SMAD4):c.1248A>G (p.Arg416=) rs786202472
NM_005359.6(SMAD4):c.1249_1250del (p.Glu417fs) rs1599197105
NM_005359.6(SMAD4):c.1253C>T (p.Ala418Val) rs2144452596
NM_005359.6(SMAD4):c.1254T>C (p.Ala418=)
NM_005359.6(SMAD4):c.1257G>C (p.Gly419=) rs1303474905
NM_005359.6(SMAD4):c.1257G>T (p.Gly419=)
NM_005359.6(SMAD4):c.1258C>T (p.Arg420Cys) rs1367209662
NM_005359.6(SMAD4):c.1258_1259dup (p.Ala421fs) rs730881956
NM_005359.6(SMAD4):c.1259G>A (p.Arg420His) rs1064793725
NM_005359.6(SMAD4):c.125G>A (p.Ser42Asn) rs1909568796
NM_005359.6(SMAD4):c.1260T>C (p.Arg420=)
NM_005359.6(SMAD4):c.1262C>T (p.Ala421Val)
NM_005359.6(SMAD4):c.1264C>T (p.Pro422Ser)
NM_005359.6(SMAD4):c.1266T>C (p.Pro422=) rs2144452684
NM_005359.6(SMAD4):c.1269A>C (p.Gly423=) rs1052676207
NM_005359.6(SMAD4):c.1269A>G (p.Gly423=) rs1052676207
NM_005359.6(SMAD4):c.1269A>T (p.Gly423=)
NM_005359.6(SMAD4):c.126T>C (p.Ser42=) rs1057523114
NM_005359.6(SMAD4):c.1271dup (p.Asp424fs) rs1555686616
NM_005359.6(SMAD4):c.1272T>C (p.Asp424=) rs2144452726
NM_005359.6(SMAD4):c.1276G>A (p.Val426Ile) rs1555686617
NM_005359.6(SMAD4):c.1278del (p.His427fs)
NM_005359.6(SMAD4):c.127T>C (p.Leu43=)
NM_005359.6(SMAD4):c.127T>G (p.Leu43Val) rs863224731
NM_005359.6(SMAD4):c.1283A>G (p.Lys428Arg) rs1555686620
NM_005359.6(SMAD4):c.1284G>A (p.Lys428=)
NM_005359.6(SMAD4):c.1285A>C (p.Ile429Leu) rs2144452793
NM_005359.6(SMAD4):c.1285A>G (p.Ile429Val) rs2144452793
NM_005359.6(SMAD4):c.1287C>G (p.Ile429Met) rs1555686621
NM_005359.6(SMAD4):c.1287C>T (p.Ile429=) rs1555686621
NM_005359.6(SMAD4):c.1287del (p.Tyr430fs)
NM_005359.6(SMAD4):c.1290C>T (p.Tyr430=)
NM_005359.6(SMAD4):c.1291C>G (p.Pro431Ala)
NM_005359.6(SMAD4):c.1295G>A (p.Ser432Asn) rs770301659
NM_005359.6(SMAD4):c.1296T>C (p.Ser432=)
NM_005359.6(SMAD4):c.1300T>A (p.Tyr434Asn)
NM_005359.6(SMAD4):c.1301A>G (p.Tyr434Cys) rs780610518
NM_005359.6(SMAD4):c.1302T>C (p.Tyr434=)
NM_005359.6(SMAD4):c.1304_1305dup (p.Lys436Ter) rs1910186100
NM_005359.6(SMAD4):c.1305A>G (p.Ile435Met)
NM_005359.6(SMAD4):c.1307A>C (p.Lys436Thr)
NM_005359.6(SMAD4):c.1308+11A>C rs773719398
NM_005359.6(SMAD4):c.1308+11A>G
NM_005359.6(SMAD4):c.1308+14T>G
NM_005359.6(SMAD4):c.1308+16A>G
NM_005359.6(SMAD4):c.1308+16A>T
NM_005359.6(SMAD4):c.1308+17T>A
NM_005359.6(SMAD4):c.1308+18T>C
NM_005359.6(SMAD4):c.1308+19T>G rs2144453059
NM_005359.6(SMAD4):c.1308+1G>A rs587781618
NM_005359.6(SMAD4):c.1308+2T>G rs1555686624
NM_005359.6(SMAD4):c.1308+4A>T rs1555686626
NM_005359.6(SMAD4):c.1308+5_1308+11del
NM_005359.6(SMAD4):c.1308+9C>A rs1057522058
NM_005359.6(SMAD4):c.1308+9C>T rs1057522058
NM_005359.6(SMAD4):c.1309-10T>C rs2144473425
NM_005359.6(SMAD4):c.1309-14T>C
NM_005359.6(SMAD4):c.1309-15G>C rs764436881
NM_005359.6(SMAD4):c.1309-17A>G
NM_005359.6(SMAD4):c.1309-1G>A rs1555687377
NM_005359.6(SMAD4):c.1309-2del
NM_005359.6(SMAD4):c.1309-2dup
NM_005359.6(SMAD4):c.1309-5A>G rs1568211170
NM_005359.6(SMAD4):c.1309-5A>T
NM_005359.6(SMAD4):c.1309-9dup
NM_005359.6(SMAD4):c.1309G>A (p.Val437Ile) rs1568211172
NM_005359.6(SMAD4):c.130G>A (p.Val44Ile)
NM_005359.6(SMAD4):c.130G>T (p.Val44Leu)
NM_005359.6(SMAD4):c.1311C>G (p.Val437=) rs751539807
NM_005359.6(SMAD4):c.1311C>T (p.Val437=)
NM_005359.6(SMAD4):c.1313T>C (p.Phe438Ser)
NM_005359.6(SMAD4):c.131T>C (p.Val44Ala) rs2144401151
NM_005359.6(SMAD4):c.1320G>A (p.Leu440=) rs1599204046
NM_005359.6(SMAD4):c.1321C>T (p.Arg441Cys) rs1599204052
NM_005359.6(SMAD4):c.1322G>A (p.Arg441His) rs1599204057
NM_005359.6(SMAD4):c.1324C>T (p.Gln442Ter) rs1555687378
NM_005359.6(SMAD4):c.1326G>A (p.Gln442=) rs1568211178
NM_005359.6(SMAD4):c.1326G>C (p.Gln442His) rs1568211178
NM_005359.6(SMAD4):c.1327T>G (p.Cys443Gly)
NM_005359.6(SMAD4):c.132A>T (p.Val44=) rs965942065
NM_005359.6(SMAD4):c.1333C>T (p.Arg445Ter) rs377767360
NM_005359.6(SMAD4):c.1334G>A (p.Arg445Gln)
NM_005359.6(SMAD4):c.1335A>G (p.Arg445=)
NM_005359.6(SMAD4):c.1339A>C (p.Met447Leu) rs1568211184
NM_005359.6(SMAD4):c.1339A>T (p.Met447Leu) rs1568211184
NM_005359.6(SMAD4):c.1342C>A (p.Gln448Lys) rs377767361
NM_005359.6(SMAD4):c.1342C>G (p.Gln448Glu) rs377767361
NM_005359.6(SMAD4):c.1343A>G (p.Gln448Arg)
NM_005359.6(SMAD4):c.1343_1367del (p.Gln448fs) rs1568211187
NM_005359.6(SMAD4):c.1345C>T (p.Gln449Ter) rs587781359
NM_005359.6(SMAD4):c.1346A>G (p.Gln449Arg)
NM_005359.6(SMAD4):c.1347G>A (p.Gln449=) rs1910478522
NM_005359.6(SMAD4):c.1348C>T (p.Gln450Ter) rs1910478581
NM_005359.6(SMAD4):c.1349_1376del (p.Gln450fs) rs876660720
NM_005359.6(SMAD4):c.1349_1376dup (p.Ala460fs) rs876660720
NM_005359.6(SMAD4):c.1350G>A (p.Gln450=) rs751279659
NM_005359.6(SMAD4):c.1351G>T (p.Ala451Ser)
NM_005359.6(SMAD4):c.1351_1375del (p.Ala451fs) rs587780124
NM_005359.6(SMAD4):c.1352C>A (p.Ala451Glu) rs1275841831
NM_005359.6(SMAD4):c.1352C>T (p.Ala451Val) rs1275841831
NM_005359.6(SMAD4):c.1353G>T (p.Ala451=) rs1441353791
NM_005359.6(SMAD4):c.1354_1381dup (p.Gln461fs) rs786204125
NM_005359.6(SMAD4):c.1355C>T (p.Ala452Val) rs2144473900
NM_005359.6(SMAD4):c.1356T>C (p.Ala452=)
NM_005359.6(SMAD4):c.1357A>G (p.Thr453Ala)
NM_005359.6(SMAD4):c.1359T>G (p.Thr453=)
NM_005359.6(SMAD4):c.1363C>T (p.Gln455Ter) rs1599204121
NM_005359.6(SMAD4):c.1365A>C (p.Gln455His)
NM_005359.6(SMAD4):c.1366G>A (p.Ala456Thr)
NM_005359.6(SMAD4):c.1371A>T (p.Ala457=)
NM_005359.6(SMAD4):c.1372G>A (p.Ala458Thr)
NM_005359.6(SMAD4):c.1373dup (p.Ala459fs) rs2144474088
NM_005359.6(SMAD4):c.1374A>C (p.Ala458=)
NM_005359.6(SMAD4):c.1375G>A (p.Ala459Thr) rs1910479958
NM_005359.6(SMAD4):c.137_155del (p.Lys46fs)
NM_005359.6(SMAD4):c.1380C>A (p.Ala460=) rs1910480314
NM_005359.6(SMAD4):c.1380C>T (p.Ala460=) rs1910480314
NM_005359.6(SMAD4):c.1381C>T (p.Gln461Ter) rs1599204140
NM_005359.6(SMAD4):c.1385C>T (p.Ala462Val) rs2144474198
NM_005359.6(SMAD4):c.1389A>T (p.Ala463=) rs1599204151
NM_005359.6(SMAD4):c.138G>A (p.Lys46=) rs1555685022
NM_005359.6(SMAD4):c.1392C>A (p.Ala464=) rs140487104
NM_005359.6(SMAD4):c.1393G>T (p.Val465Leu) rs786201798
NM_005359.6(SMAD4):c.1396G>A (p.Ala466Thr) rs2144474300
NM_005359.6(SMAD4):c.1397C>T (p.Ala466Val)
NM_005359.6(SMAD4):c.1398A>C (p.Ala466=)
NM_005359.6(SMAD4):c.1398A>G (p.Ala466=) rs2144474327
NM_005359.6(SMAD4):c.139C>T (p.Leu47=)
NM_005359.6(SMAD4):c.1401A>G (p.Gly467=)
NM_005359.6(SMAD4):c.1403A>G (p.Asn468Ser) rs569981255
NM_005359.6(SMAD4):c.1405A>G (p.Ile469Val) rs876658851
NM_005359.6(SMAD4):c.1407_1410dup (p.Gly471fs) rs1555687386
NM_005359.6(SMAD4):c.1408C>A (p.Pro470Thr)
NM_005359.6(SMAD4):c.1409C>G (p.Pro470Arg) rs1599204186
NM_005359.6(SMAD4):c.1409del (p.Pro470fs) rs1555687387
NM_005359.6(SMAD4):c.1410T>C (p.Pro470=) rs2144474431
NM_005359.6(SMAD4):c.1411G>A (p.Gly471Ser) rs2144474442
NM_005359.6(SMAD4):c.1413C>G (p.Gly471=)
NM_005359.6(SMAD4):c.1414C>G (p.Pro472Ala) rs1169893474
NM_005359.6(SMAD4):c.1415C>T (p.Pro472Leu) rs2144474506
NM_005359.6(SMAD4):c.1415dup (p.Gly473fs) rs2144474485
NM_005359.6(SMAD4):c.1420T>A (p.Ser474Thr)
NM_005359.6(SMAD4):c.1423G>C (p.Val475Leu) rs864622428
NM_005359.6(SMAD4):c.1425A>G (p.Val475=)
NM_005359.6(SMAD4):c.1432A>G (p.Ile478Val) rs2144474631
NM_005359.6(SMAD4):c.1434A>C (p.Ile478=) rs2144474642
NM_005359.6(SMAD4):c.1438C>T (p.Pro480Ser) rs1555687390
NM_005359.6(SMAD4):c.143A>G (p.Lys48Arg) rs2144401230
NM_005359.6(SMAD4):c.1443T>C (p.Ala481=) rs1910483120
NM_005359.6(SMAD4):c.1444A>G (p.Ile482Val) rs864622736
NM_005359.6(SMAD4):c.1447+10C>G rs2144474920
NM_005359.6(SMAD4):c.1447+10C>T
NM_005359.6(SMAD4):c.1447+13T>C
NM_005359.6(SMAD4):c.1447+14T>C
NM_005359.6(SMAD4):c.1447+15C>A rs1910484768
NM_005359.6(SMAD4):c.1447+16A>T
NM_005359.6(SMAD4):c.1447+17T>C rs1024598107
NM_005359.6(SMAD4):c.1447+18T>A
NM_005359.6(SMAD4):c.1447+19C>A
NM_005359.6(SMAD4):c.1447+20T>C rs2144474985
NM_005359.6(SMAD4):c.1447+2T>C rs1060500740
NM_005359.6(SMAD4):c.1447+3A>T rs754526507
NM_005359.6(SMAD4):c.1447+4A>G rs778631062
NM_005359.6(SMAD4):c.1447+7A>G rs747572179
NM_005359.6(SMAD4):c.1447+7A>T rs747572179
NM_005359.6(SMAD4):c.1447+8T>G
NM_005359.6(SMAD4):c.1447+9G>A rs878854766
NM_005359.6(SMAD4):c.1447+9G>T rs878854766
NM_005359.6(SMAD4):c.1447A>G (p.Ser483Gly) rs1910483270
NM_005359.6(SMAD4):c.1448-10T>C rs1284568919
NM_005359.6(SMAD4):c.1448-11T>C
NM_005359.6(SMAD4):c.1448-11T>G rs2144477856
NM_005359.6(SMAD4):c.1448-12C>G
NM_005359.6(SMAD4):c.1448-15A>C
NM_005359.6(SMAD4):c.1448-16A>G rs1223765408
NM_005359.6(SMAD4):c.1448-17C>T
NM_005359.6(SMAD4):c.1448-18C>A rs1568211501
NM_005359.6(SMAD4):c.1448-18C>T rs1568211501
NM_005359.6(SMAD4):c.1448-1G>A rs1910517904
NM_005359.6(SMAD4):c.1448-25_1448-18del
NM_005359.6(SMAD4):c.1448-2A>G
NM_005359.6(SMAD4):c.1448-4T>C
NM_005359.6(SMAD4):c.1448-5G>C rs587781640
NM_005359.6(SMAD4):c.1448-6T>C rs1085307437
NM_005359.6(SMAD4):c.1448-7C>T rs1599205183
NM_005359.6(SMAD4):c.1448-9T>A rs770799201
NM_005359.6(SMAD4):c.1448-9T>C
NM_005359.6(SMAD4):c.1448G>A (p.Ser483Asn) rs786204060
NM_005359.6(SMAD4):c.1449T>G (p.Ser483Arg) rs745598003
NM_005359.6(SMAD4):c.1450C>G (p.Leu484Val)
NM_005359.6(SMAD4):c.1452G>A (p.Leu484=) rs1555687538
NM_005359.6(SMAD4):c.1452G>C (p.Leu484=) rs1555687538
NM_005359.6(SMAD4):c.1455A>C (p.Ser485=) rs2144477974
NM_005359.6(SMAD4):c.1464T>A (p.Ala488=)
NM_005359.6(SMAD4):c.1464T>C (p.Ala488=) rs1555687539
NM_005359.6(SMAD4):c.1464T>G (p.Ala488=) rs1555687539
NM_005359.6(SMAD4):c.1468A>G (p.Ile490Val)
NM_005359.6(SMAD4):c.1470del (p.Ile490fs)
NM_005359.6(SMAD4):c.1473T>C (p.Gly491=) rs1207826883
NM_005359.6(SMAD4):c.1473T>G (p.Gly491=)
NM_005359.6(SMAD4):c.1476TGA[1] (p.Asp494del) rs1910518741
NM_005359.6(SMAD4):c.1479T>C (p.Asp493=) rs1568211528
NM_005359.6(SMAD4):c.147G>C (p.Glu49Asp) rs1555685024
NM_005359.6(SMAD4):c.1480G>T (p.Asp494Tyr)
NM_005359.6(SMAD4):c.1482C>T (p.Asp494=) rs2144478232
NM_005359.6(SMAD4):c.1485T>G (p.Leu495=) rs1555687550
NM_005359.6(SMAD4):c.1487G>A (p.Arg496His) rs876660045
NM_005359.6(SMAD4):c.1489C>T (p.Arg497Cys) rs762118751
NM_005359.6(SMAD4):c.1490G>A (p.Arg497His) rs1910519516
NM_005359.6(SMAD4):c.1491C>A (p.Arg497=)
NM_005359.6(SMAD4):c.1494A>G (p.Leu498=) rs772479430
NM_005359.6(SMAD4):c.1494dup (p.Cys499fs) rs2144478377
NM_005359.6(SMAD4):c.1495T>C (p.Cys499Arg) rs1060500738
NM_005359.6(SMAD4):c.1498A>C (p.Ile500Leu)
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) rs281875322
NM_005359.6(SMAD4):c.1499T>C (p.Ile500Thr) rs281875321
NM_005359.6(SMAD4):c.1500A>G (p.Ile500Met) rs281875320
NM_005359.6(SMAD4):c.1503C>T (p.Leu501=) rs762637015
NM_005359.6(SMAD4):c.1504A>C (p.Arg502=)
NM_005359.6(SMAD4):c.1505G>A (p.Arg502Lys) rs1910520541
NM_005359.6(SMAD4):c.1506G>A (p.Arg502=)
NM_005359.6(SMAD4):c.1506del (p.Arg502_Met503insTer)
NM_005359.6(SMAD4):c.1507A>T (p.Met503Leu) rs1426800709
NM_005359.6(SMAD4):c.1511G>A (p.Ser504Asn)
NM_005359.6(SMAD4):c.1512T>C (p.Ser504=) rs1599205322
NM_005359.6(SMAD4):c.1515T>C (p.Phe505=)
NM_005359.6(SMAD4):c.1515del (p.Phe505fs) rs864622252
NM_005359.6(SMAD4):c.1516G>A (p.Val506Met) rs1060500746
NM_005359.6(SMAD4):c.1521A>G (p.Lys507=) rs1599205337
NM_005359.6(SMAD4):c.1523del (p.Gly508fs) rs2144478656
NM_005359.6(SMAD4):c.1529G>A (p.Gly510Glu) rs377767371
NM_005359.6(SMAD4):c.1529del (p.Gly510fs) rs1060500744
NM_005359.6(SMAD4):c.1530A>G (p.Gly510=) rs1568211560
NM_005359.6(SMAD4):c.1533G>A (p.Pro511=) rs1057523968
NM_005359.6(SMAD4):c.1533G>T (p.Pro511=) rs1057523968
NM_005359.6(SMAD4):c.1534G>A (p.Asp512Asn) rs1555687578
NM_005359.6(SMAD4):c.1537T>A (p.Tyr513Asn)
NM_005359.6(SMAD4):c.153dup (p.Asp52fs) rs786203560
NM_005359.6(SMAD4):c.1540_1541delinsTT (p.Pro514Leu) rs1910522327
NM_005359.6(SMAD4):c.1545A>G (p.Arg515=) rs760840557
NM_005359.6(SMAD4):c.1547A>G (p.Gln516Arg) rs786202496
NM_005359.6(SMAD4):c.1547dup (p.Ser517fs) rs587783060
NM_005359.6(SMAD4):c.1548del (p.Ser517fs) rs2144478902
NM_005359.6(SMAD4):c.1549_1550del (p.Ser517fs) rs377767373
NM_005359.6(SMAD4):c.1550G>A (p.Ser517Asn) rs1910523061
NM_005359.6(SMAD4):c.1552A>G (p.Ile518Val) rs2144478923
NM_005359.6(SMAD4):c.1554C>T (p.Ile518=) rs876660438
NM_005359.6(SMAD4):c.1558G>C (p.Glu520Gln) rs1599205419
NM_005359.6(SMAD4):c.155A>T (p.Asp52Val) rs1057524809
NM_005359.6(SMAD4):c.1562C>T (p.Thr521Ile) rs876659840
NM_005359.6(SMAD4):c.1563A>G (p.Thr521=) rs1599205437
NM_005359.6(SMAD4):c.1563A>T (p.Thr521=)
NM_005359.6(SMAD4):c.1564C>A (p.Pro522Thr)
NM_005359.6(SMAD4):c.1565C>T (p.Pro522Leu) rs1910523687
NM_005359.6(SMAD4):c.1566T>G (p.Pro522=) rs1555687593
NM_005359.6(SMAD4):c.156T>G (p.Asp52Glu)
NM_005359.6(SMAD4):c.1570T>C (p.Trp524Arg) rs1910523788
NM_005359.6(SMAD4):c.1572G>A (p.Trp524Ter) rs1568211588
NM_005359.6(SMAD4):c.1572G>T (p.Trp524Cys)
NM_005359.6(SMAD4):c.1574T>C (p.Ile525Thr) rs1304558237
NM_005359.6(SMAD4):c.1577A>T (p.Glu526Val)
NM_005359.6(SMAD4):c.1578A>C (p.Glu526Asp)
NM_005359.6(SMAD4):c.1579A>G (p.Ile527Val) rs2144479148
NM_005359.6(SMAD4):c.1580T>C (p.Ile527Thr) rs2144479158
NM_005359.6(SMAD4):c.1583A>G (p.His528Arg)
NM_005359.6(SMAD4):c.1585T>C (p.Leu529=) rs1555687596
NM_005359.6(SMAD4):c.1585_1590del (p.Leu529_His530del)
NM_005359.6(SMAD4):c.1586T>G (p.Leu529Ter)
NM_005359.6(SMAD4):c.1587A>C (p.Leu529Phe) rs2144479233
NM_005359.6(SMAD4):c.1587dup (p.His530fs) rs377767376
NM_005359.6(SMAD4):c.1590C>G (p.His530Gln) rs935557677
NM_005359.6(SMAD4):c.1590C>T (p.His530=) rs935557677
NM_005359.6(SMAD4):c.1591C>G (p.Arg531Gly)
NM_005359.6(SMAD4):c.1591C>T (p.Arg531Trp) rs766833269
NM_005359.6(SMAD4):c.1592G>A (p.Arg531Gln) rs1910524938
NM_005359.6(SMAD4):c.1595C>A (p.Ala532Asp) rs1568211604
NM_005359.6(SMAD4):c.1597C>T (p.Leu533Phe) rs377767381
NM_005359.6(SMAD4):c.1598T>C (p.Leu533Pro) rs377767382
NM_005359.6(SMAD4):c.1599C>G (p.Leu533=)
NM_005359.6(SMAD4):c.1599C>T (p.Leu533=)
NM_005359.6(SMAD4):c.1599_1607del (p.Gln534_Leu536del) rs1910525515
NM_005359.6(SMAD4):c.159A>G (p.Glu53=) rs768796731
NM_005359.6(SMAD4):c.15T>C (p.Ser5=)
NM_005359.6(SMAD4):c.1600C>T (p.Gln534Ter) rs377767383
NM_005359.6(SMAD4):c.1604_1605delinsAA (p.Leu535Gln) rs1599205540
NM_005359.6(SMAD4):c.1606C>T (p.Leu536=) rs587780790
NM_005359.6(SMAD4):c.1610A>G (p.Asp537Gly) rs1555687605
NM_005359.6(SMAD4):c.1610A>T (p.Asp537Val) rs1555687605
NM_005359.6(SMAD4):c.1612G>A (p.Glu538Lys) rs1568211615
NM_005359.6(SMAD4):c.1612G>T (p.Glu538Ter) rs1568211615
NM_005359.6(SMAD4):c.1622A>T (p.His541Leu)
NM_005359.6(SMAD4):c.1623T>C (p.His541=)
NM_005359.6(SMAD4):c.1627A>G (p.Met543Val) rs1910526541
NM_005359.6(SMAD4):c.1627A>T (p.Met543Leu) rs1910526541
NM_005359.6(SMAD4):c.1628T>C (p.Met543Thr)
NM_005359.6(SMAD4):c.1628T>G (p.Met543Arg) rs1910526613
NM_005359.6(SMAD4):c.162G>A (p.Leu54=)
NM_005359.6(SMAD4):c.1630C>T (p.Pro544Ser)
NM_005359.6(SMAD4):c.1632G>A (p.Pro544=) rs549489716
NM_005359.6(SMAD4):c.1632G>C (p.Pro544=) rs549489716
NM_005359.6(SMAD4):c.1632G>T (p.Pro544=)
NM_005359.6(SMAD4):c.1633A>G (p.Ile545Val) rs1910527259
NM_005359.6(SMAD4):c.1634T>A (p.Ile545Asn) rs730881955
NM_005359.6(SMAD4):c.1635T>G (p.Ile545Met) rs200595795
NM_005359.6(SMAD4):c.1637C>T (p.Ala546Val) rs1910527468
NM_005359.6(SMAD4):c.1639G>A (p.Asp547Asn) rs2144479750
NM_005359.6(SMAD4):c.163G>T (p.Asp55Tyr)
NM_005359.6(SMAD4):c.1641C>T (p.Asp547=) rs1057523337
NM_005359.6(SMAD4):c.1642C>G (p.Pro548Ala) rs876658866
NM_005359.6(SMAD4):c.1642C>T (p.Pro548Ser) rs876658866
NM_005359.6(SMAD4):c.1643C>G (p.Pro548Arg) rs2144479765
NM_005359.6(SMAD4):c.1645C>T (p.Gln549Ter) rs1555687613
NM_005359.6(SMAD4):c.1646A>C (p.Gln549Pro)
NM_005359.6(SMAD4):c.1646A>G (p.Gln549Arg) rs2144479787
NM_005359.6(SMAD4):c.1647A>C (p.Gln549His) rs113545983
NM_005359.6(SMAD4):c.1647del (p.Gln549fs) rs1555687615
NM_005359.6(SMAD4):c.1648C>T (p.Pro550Ser) rs1599205642
NM_005359.6(SMAD4):c.1649C>T (p.Pro550Leu)
NM_005359.6(SMAD4):c.1650T>C (p.Pro550=)
NM_005359.6(SMAD4):c.1651T>G (p.Leu551Val) rs1064793950
NM_005359.6(SMAD4):c.1652dup (p.Leu551fs)
NM_005359.6(SMAD4):c.1656C>T (p.Asp552=) rs2144479886
NM_005359.6(SMAD4):c.1658G>A (p.Ter553=) rs2144479903
NM_005359.6(SMAD4):c.1658G>C (p.Ter553Ser) rs2144479903
NM_005359.6(SMAD4):c.166T>G (p.Ser56Ala)
NM_005359.6(SMAD4):c.167C>T (p.Ser56Phe)
NM_005359.6(SMAD4):c.168T>A (p.Ser56=) rs1333506128
NM_005359.6(SMAD4):c.16A>G (p.Ile6Val) rs1376500870
NM_005359.6(SMAD4):c.170_173del (p.Ser56_Leu57insTer)
NM_005359.6(SMAD4):c.172A>G (p.Ile58Val) rs786204166
NM_005359.6(SMAD4):c.175A>G (p.Thr59Ala) rs587781977
NM_005359.6(SMAD4):c.177A>G (p.Thr59=) rs774480995
NM_005359.6(SMAD4):c.17T>C (p.Ile6Thr) rs1599181007
NM_005359.6(SMAD4):c.181A>C (p.Ile61Leu) rs1064794204
NM_005359.6(SMAD4):c.186T>A (p.Thr62=) rs1599181199
NM_005359.6(SMAD4):c.189A>G (p.Thr63=) rs1555685033
NM_005359.6(SMAD4):c.18T>C (p.Ile6=) rs2144400251
NM_005359.6(SMAD4):c.190A>G (p.Asn64Asp) rs2144401550
NM_005359.6(SMAD4):c.191A>G (p.Asn64Ser) rs1909571462
NM_005359.6(SMAD4):c.192T>C (p.Asn64=) rs1555685037
NM_005359.6(SMAD4):c.195A>C (p.Gly65=) rs2144401586
NM_005359.6(SMAD4):c.196G>A (p.Ala66Thr) rs1599181207
NM_005359.6(SMAD4):c.197C>T (p.Ala66Val) rs2144401606
NM_005359.6(SMAD4):c.198T>C (p.Ala66=) rs1568203034
NM_005359.6(SMAD4):c.199C>T (p.His67Tyr)
NM_005359.6(SMAD4):c.1A>G (p.Met1Val) rs1064795777
NM_005359.6(SMAD4):c.202C>T (p.Pro68Ser)
NM_005359.6(SMAD4):c.203C>T (p.Pro68Leu) rs1599181216
NM_005359.6(SMAD4):c.205A>G (p.Ser69Gly) rs2144401674
NM_005359.6(SMAD4):c.205A>T (p.Ser69Cys)
NM_005359.6(SMAD4):c.208_215del (p.Lys70fs)
NM_005359.6(SMAD4):c.209A>C (p.Lys70Thr) rs1555685038
NM_005359.6(SMAD4):c.209A>G (p.Lys70Arg) rs1555685038
NM_005359.6(SMAD4):c.20C>G (p.Thr7Arg) rs372316981
NM_005359.6(SMAD4):c.210A>G (p.Lys70=)
NM_005359.6(SMAD4):c.212G>A (p.Cys71Tyr)
NM_005359.6(SMAD4):c.214G>A (p.Val72Ile)
NM_005359.6(SMAD4):c.217dup (p.Thr73fs) rs1909571836
NM_005359.6(SMAD4):c.218C>T (p.Thr73Ile)
NM_005359.6(SMAD4):c.21G>T (p.Thr7=) rs142292491
NM_005359.6(SMAD4):c.223del (p.Gln75fs) rs2144401809
NM_005359.6(SMAD4):c.224A>C (p.Gln75Pro)
NM_005359.6(SMAD4):c.225G>A (p.Gln75=) rs2144401822
NM_005359.6(SMAD4):c.232T>C (p.Leu78=) rs1599181244
NM_005359.6(SMAD4):c.237_241dup (p.Arg81fs) rs2144401899
NM_005359.6(SMAD4):c.23A>G (p.Asn8Ser) rs876658568
NM_005359.6(SMAD4):c.23del (p.Asn8fs) rs2144400284
NM_005359.6(SMAD4):c.240G>T (p.Gly80=) rs1909572382
NM_005359.6(SMAD4):c.243G>A (p.Arg81=)
NM_005359.6(SMAD4):c.247C>T (p.Gln83Ter) rs1599181251
NM_005359.6(SMAD4):c.249+10A>G rs752243771
NM_005359.6(SMAD4):c.249+10A>T
NM_005359.6(SMAD4):c.249+10dup
NM_005359.6(SMAD4):c.249+11_249+12del rs2144402091
NM_005359.6(SMAD4):c.249+12A>G
NM_005359.6(SMAD4):c.249+14G>C
NM_005359.6(SMAD4):c.249+15A>G
NM_005359.6(SMAD4):c.249+16G>T
NM_005359.6(SMAD4):c.249+1G>T rs2144402036
NM_005359.6(SMAD4):c.249+21dup rs1568203059
NM_005359.6(SMAD4):c.249+6T>A rs1599181264
NM_005359.6(SMAD4):c.249+7C>G rs754207663
NM_005359.6(SMAD4):c.249_249+6dup rs1555685040
NM_005359.6(SMAD4):c.24T>C (p.Asn8=) rs1909566006
NM_005359.6(SMAD4):c.250-10A>G rs1599182364
NM_005359.6(SMAD4):c.250-17G>A
NM_005359.6(SMAD4):c.250-18G>C
NM_005359.6(SMAD4):c.250-19T>A
NM_005359.6(SMAD4):c.250-19T>C
NM_005359.6(SMAD4):c.250-1G>C rs1555685149
NM_005359.6(SMAD4):c.250-1G>T
NM_005359.6(SMAD4):c.250-2A>G rs1555685142
NM_005359.6(SMAD4):c.250-3T>C rs1555685140
NM_005359.6(SMAD4):c.250-4C>A rs1599182375
NM_005359.6(SMAD4):c.250-4C>G rs1599182375
NM_005359.6(SMAD4):c.250-5T>C rs1232598459
NM_005359.6(SMAD4):c.250-5del
NM_005359.6(SMAD4):c.250-7T>C
NM_005359.6(SMAD4):c.255T>G (p.Ala85=) rs1555685152
NM_005359.6(SMAD4):c.258T>G (p.Gly86=) rs2144405112
NM_005359.6(SMAD4):c.259C>T (p.Arg87Trp)
NM_005359.6(SMAD4):c.25A>G (p.Thr9Ala) rs2144400315
NM_005359.6(SMAD4):c.260G>A (p.Arg87Gln)
NM_005359.6(SMAD4):c.260G>C (p.Arg87Pro) rs1060500735
NM_005359.6(SMAD4):c.263_267del (p.Lys88fs) rs1060500739
NM_005359.6(SMAD4):c.264A>G (p.Lys88=) rs1555685155
NM_005359.6(SMAD4):c.265G>T (p.Gly89Ter)
NM_005359.6(SMAD4):c.267A>T (p.Gly89=) rs1599182401
NM_005359.6(SMAD4):c.26C>T (p.Thr9Ile) rs1555684986
NM_005359.6(SMAD4):c.270T>C (p.Phe90=)
NM_005359.6(SMAD4):c.275_276del (p.His92fs) rs1555685156
NM_005359.6(SMAD4):c.279G>A (p.Val93=) rs1568203425
NM_005359.6(SMAD4):c.279G>C (p.Val93=) rs1568203425
NM_005359.6(SMAD4):c.27A>G (p.Thr9=) rs1360609728
NM_005359.6(SMAD4):c.282C>T (p.Ile94=) rs1599182415
NM_005359.6(SMAD4):c.282_283del (p.Tyr95fs)
NM_005359.6(SMAD4):c.284A>G (p.Tyr95Cys) rs1460631652
NM_005359.6(SMAD4):c.285T>C (p.Tyr95=) rs1599182420
NM_005359.6(SMAD4):c.287C>G (p.Ala96Gly)
NM_005359.6(SMAD4):c.287C>T (p.Ala96Val) rs2144405304
NM_005359.6(SMAD4):c.289C>T (p.Arg97Cys) rs1555685158
NM_005359.6(SMAD4):c.290G>A (p.Arg97His) rs1555685159
NM_005359.6(SMAD4):c.290G>T (p.Arg97Leu) rs1555685159
NM_005359.6(SMAD4):c.292C>G (p.Leu98Val)
NM_005359.6(SMAD4):c.296G>A (p.Trp99Ter) rs2144405369
NM_005359.6(SMAD4):c.29C>T (p.Pro10Leu) rs1909566256
NM_005359.6(SMAD4):c.2T>C (p.Met1Thr)
NM_005359.6(SMAD4):c.30A>T (p.Pro10=) rs761044209
NM_005359.6(SMAD4):c.312T>C (p.Leu104=)
NM_005359.6(SMAD4):c.31A>G (p.Thr11Ala) rs587780791
NM_005359.6(SMAD4):c.321T>C (p.Asn107=)
NM_005359.6(SMAD4):c.321_330dup (p.His111Ter) rs1909619692
NM_005359.6(SMAD4):c.323A>G (p.Glu108Gly)
NM_005359.6(SMAD4):c.326_331del (p.Leu109_Lys110del)
NM_005359.6(SMAD4):c.330A>G (p.Lys110=) rs1909619980
NM_005359.6(SMAD4):c.332A>G (p.His111Arg) rs1064794363
NM_005359.6(SMAD4):c.332_333del (p.His111fs) rs2144405621
NM_005359.6(SMAD4):c.333T>C (p.His111=) rs1568203454
NM_005359.6(SMAD4):c.339A>G (p.Lys113=) rs1568203460
NM_005359.6(SMAD4):c.33A>C (p.Thr11=)
NM_005359.6(SMAD4):c.33A>T (p.Thr11=)
NM_005359.6(SMAD4):c.340T>A (p.Tyr114Asn) rs1555685170
NM_005359.6(SMAD4):c.340T>G (p.Tyr114Asp)
NM_005359.6(SMAD4):c.341A>G (p.Tyr114Cys) rs2144405684
NM_005359.6(SMAD4):c.345T>C (p.Cys115=) rs1599182477
NM_005359.6(SMAD4):c.348G>A (p.Gln116=) rs1909620772
NM_005359.6(SMAD4):c.348_349del (p.Tyr117fs) rs2144405750
NM_005359.6(SMAD4):c.351T>C (p.Tyr117=) rs1555685176
NM_005359.6(SMAD4):c.353C>T (p.Ala118Val) rs2144405775
NM_005359.6(SMAD4):c.354G>T (p.Ala118=)
NM_005359.6(SMAD4):c.354del (p.Phe119fs)
NM_005359.6(SMAD4):c.358G>A (p.Asp120Asn)
NM_005359.6(SMAD4):c.358G>C (p.Asp120His) rs1909621069
NM_005359.6(SMAD4):c.35G>A (p.Ser12Asn) rs2144400408
NM_005359.6(SMAD4):c.360C>G (p.Asp120Glu) rs1599182483
NM_005359.6(SMAD4):c.360C>T (p.Asp120=) rs1599182483
NM_005359.6(SMAD4):c.363A>G (p.Leu121=)
NM_005359.6(SMAD4):c.367T>C (p.Cys123Arg) rs1568203472
NM_005359.6(SMAD4):c.371A>G (p.Asp124Gly)
NM_005359.6(SMAD4):c.372T>C (p.Asp124=) rs1555685178
NM_005359.6(SMAD4):c.375T>G (p.Ser125Arg) rs863224401
NM_005359.6(SMAD4):c.377T>C (p.Val126Ala) rs1909621949
NM_005359.6(SMAD4):c.37A>G (p.Asn13Asp) rs1909566487
NM_005359.6(SMAD4):c.380G>A (p.Cys127Tyr) rs1555685182
NM_005359.6(SMAD4):c.386A>G (p.Asn129Ser)
NM_005359.6(SMAD4):c.390A>T (p.Pro130=) rs755862230
NM_005359.6(SMAD4):c.391dup (p.Tyr131fs)
NM_005359.6(SMAD4):c.393T>C (p.Tyr131=)
NM_005359.6(SMAD4):c.394C>T (p.His132Tyr) rs1060500743
NM_005359.6(SMAD4):c.397T>C (p.Tyr133His)
NM_005359.6(SMAD4):c.399C>A (p.Tyr133Ter) rs779069779
NM_005359.6(SMAD4):c.39T>C (p.Asn13=) rs376371717
NM_005359.6(SMAD4):c.3G>A (p.Met1Ile) rs973470216
NM_005359.6(SMAD4):c.3G>C (p.Met1Ile) rs973470216
NM_005359.6(SMAD4):c.3G>T (p.Met1Ile)
NM_005359.6(SMAD4):c.401A>G (p.Glu134Gly)
NM_005359.6(SMAD4):c.402A>C (p.Glu134Asp)
NM_005359.6(SMAD4):c.402A>G (p.Glu134=) rs1599182556
NM_005359.6(SMAD4):c.403C>A (p.Arg135=) rs377767326
NM_005359.6(SMAD4):c.403C>T (p.Arg135Ter) rs377767326
NM_005359.6(SMAD4):c.404G>T (p.Arg135Leu) rs2144406204
NM_005359.6(SMAD4):c.406G>A (p.Val136Ile)
NM_005359.6(SMAD4):c.409G>A (p.Val137Ile) rs1909623079
NM_005359.6(SMAD4):c.409G>C (p.Val137Leu) rs1909623079
NM_005359.6(SMAD4):c.413C>A (p.Ser138Ter)
NM_005359.6(SMAD4):c.414A>C (p.Ser138=)
NM_005359.6(SMAD4):c.419G>C (p.Gly140Ala)
NM_005359.6(SMAD4):c.420A>C (p.Gly140=) rs1599182589
NM_005359.6(SMAD4):c.420A>G (p.Gly140=)
NM_005359.6(SMAD4):c.422T>C (p.Ile141Thr) rs1599182596
NM_005359.6(SMAD4):c.423T>A (p.Ile141=)
NM_005359.6(SMAD4):c.424+10C>G
NM_005359.6(SMAD4):c.424+12_424+13del rs749922210
NM_005359.6(SMAD4):c.424+13T>C rs2144406435
NM_005359.6(SMAD4):c.424+13T>G
NM_005359.6(SMAD4):c.424+16T>G rs1371061901
NM_005359.6(SMAD4):c.424+1G>A rs377767386
NM_005359.6(SMAD4):c.424+20A>G
NM_005359.6(SMAD4):c.424+2T>C
NM_005359.6(SMAD4):c.424+3A>G rs1909624249
NM_005359.6(SMAD4):c.424+9A>C
NM_005359.6(SMAD4):c.424+9A>G
NM_005359.6(SMAD4):c.425-12T>A
NM_005359.6(SMAD4):c.425-12T>C
NM_005359.6(SMAD4):c.425-12T>G rs2144407439
NM_005359.6(SMAD4):c.425-16C>A
NM_005359.6(SMAD4):c.425-16C>G rs1909636451
NM_005359.6(SMAD4):c.425-16C>T rs1909636451
NM_005359.6(SMAD4):c.425-17C>G rs767419859
NM_005359.6(SMAD4):c.425-18C>T
NM_005359.6(SMAD4):c.425-19T>C
NM_005359.6(SMAD4):c.425-3A>G rs1599182874
NM_005359.6(SMAD4):c.425-4T>G rs2144407490
NM_005359.6(SMAD4):c.425-5T>G rs1555685238
NM_005359.6(SMAD4):c.425-6A>G rs377767327
NM_005359.6(SMAD4):c.425-7A>G
NM_005359.6(SMAD4):c.425-8C>T rs1555685237
NM_005359.6(SMAD4):c.425-9A>G
NM_005359.6(SMAD4):c.425A>G (p.Asp142Gly)
NM_005359.6(SMAD4):c.427C>T (p.Leu143Phe) rs1568203595
NM_005359.6(SMAD4):c.428T>C (p.Leu143Pro)
NM_005359.6(SMAD4):c.429C>G (p.Leu143=) rs979884322
NM_005359.6(SMAD4):c.429C>T (p.Leu143=) rs979884322
NM_005359.6(SMAD4):c.430_431del (p.Ser144fs) rs377767328
NM_005359.6(SMAD4):c.432A>C (p.Ser144=) rs1568203600
NM_005359.6(SMAD4):c.432A>G (p.Ser144=)
NM_005359.6(SMAD4):c.435A>G (p.Gly145=) rs1599182895
NM_005359.6(SMAD4):c.439A>G (p.Thr147Ala)
NM_005359.6(SMAD4):c.43G>T (p.Ala15Ser)
NM_005359.6(SMAD4):c.441A>G (p.Thr147=) rs1331767404
NM_005359.6(SMAD4):c.443del (p.Leu148fs) rs1599182906
NM_005359.6(SMAD4):c.444G>T (p.Leu148=) rs2144407664
NM_005359.6(SMAD4):c.445C>A (p.Gln149Lys) rs1599182912
NM_005359.6(SMAD4):c.449G>T (p.Ser150Ile)
NM_005359.6(SMAD4):c.44C>T (p.Ala15Val)
NM_005359.6(SMAD4):c.451A>G (p.Asn151Asp) rs1599182920
NM_005359.6(SMAD4):c.453T>A (p.Asn151Lys)
NM_005359.6(SMAD4):c.453T>C (p.Asn151=)
NM_005359.6(SMAD4):c.454+11T>C
NM_005359.6(SMAD4):c.454+12G>C
NM_005359.6(SMAD4):c.454+15T>C
NM_005359.6(SMAD4):c.454+19A>G
NM_005359.6(SMAD4):c.454+20C>G
NM_005359.6(SMAD4):c.454+2T>C rs1555685248
NM_005359.6(SMAD4):c.454+3A>G rs2144407745
NM_005359.6(SMAD4):c.454+4G>A rs1909638891
NM_005359.6(SMAD4):c.454+9T>A rs2144407791
NM_005359.6(SMAD4):c.454+9T>C
NM_005359.6(SMAD4):c.454G>A (p.Ala152Thr)
NM_005359.6(SMAD4):c.455-10T>G
NM_005359.6(SMAD4):c.455-15T>C rs2144417628
NM_005359.6(SMAD4):c.455-16T>C rs1909793982
NM_005359.6(SMAD4):c.455-18G>A
NM_005359.6(SMAD4):c.455-18G>C
NM_005359.6(SMAD4):c.455-19T>C
NM_005359.6(SMAD4):c.455-4A>G rs1599186761
NM_005359.6(SMAD4):c.455-4A>T rs1599186761
NM_005359.6(SMAD4):c.455-5T>A rs2144417678
NM_005359.6(SMAD4):c.455-6A>T rs181178864
NM_005359.6(SMAD4):c.455-7T>C
NM_005359.6(SMAD4):c.455-8C>A
NM_005359.6(SMAD4):c.455-8C>T rs1057520412
NM_005359.6(SMAD4):c.456T>C (p.Ala152=)
NM_005359.6(SMAD4):c.45C>G (p.Ala15=) rs1555684991
NM_005359.6(SMAD4):c.45C>T (p.Ala15=) rs1555684991
NM_005359.6(SMAD4):c.460T>C (p.Ser154Pro)
NM_005359.6(SMAD4):c.460T>G (p.Ser154Ala) rs864622209
NM_005359.6(SMAD4):c.461C>G (p.Ser154Ter) rs1555685624
NM_005359.6(SMAD4):c.461C>T (p.Ser154Leu)
NM_005359.6(SMAD4):c.462A>G (p.Ser154=) rs2144417764
NM_005359.6(SMAD4):c.463A>G (p.Ser155Gly) rs1057519259
NM_005359.6(SMAD4):c.464G>A (p.Ser155Asn) rs199790852
NM_005359.6(SMAD4):c.464G>C (p.Ser155Thr) rs199790852
NM_005359.6(SMAD4):c.465T>C (p.Ser155=)
NM_005359.6(SMAD4):c.466ATG[1] (p.Met157del) rs786201939
NM_005359.6(SMAD4):c.468G>A (p.Met156Ile) rs2144417826
NM_005359.6(SMAD4):c.469A>T (p.Met157Leu) rs1443471590
NM_005359.6(SMAD4):c.470T>A (p.Met157Lys) rs756675590
NM_005359.6(SMAD4):c.472G>A (p.Val158Met)
NM_005359.6(SMAD4):c.472G>T (p.Val158Leu) rs1555685628
NM_005359.6(SMAD4):c.472_516del (p.Val158_Leu172del)
NM_005359.6(SMAD4):c.472del (p.Met157_Val158insTer) rs2144417880
NM_005359.6(SMAD4):c.473T>A (p.Val158Glu) rs1909795284
NM_005359.6(SMAD4):c.474G>A (p.Val158=) rs749594930
NM_005359.6(SMAD4):c.476A>G (p.Lys159Arg) rs1909795433
NM_005359.6(SMAD4):c.476A>T (p.Lys159Met)
NM_005359.6(SMAD4):c.477G>A (p.Lys159=)
NM_005359.6(SMAD4):c.478G>A (p.Asp160Asn) rs1599186807
NM_005359.6(SMAD4):c.479A>G (p.Asp160Gly) rs1555685629
NM_005359.6(SMAD4):c.47G>A (p.Cys16Tyr) rs1555684993
NM_005359.6(SMAD4):c.47G>C (p.Cys16Ser) rs1555684993
NM_005359.6(SMAD4):c.47G>T (p.Cys16Phe) rs1555684993
NM_005359.6(SMAD4):c.480T>C (p.Asp160=) rs1599186813
NM_005359.6(SMAD4):c.483A>G (p.Glu161=) rs786201120
NM_005359.6(SMAD4):c.484T>C (p.Tyr162His) rs786203155
NM_005359.6(SMAD4):c.485A>G (p.Tyr162Cys)
NM_005359.6(SMAD4):c.486T>C (p.Tyr162=) rs1057523970
NM_005359.6(SMAD4):c.487G>A (p.Val163Met)
NM_005359.6(SMAD4):c.487G>T (p.Val163Leu)
NM_005359.6(SMAD4):c.491A>T (p.His164Leu) rs876660058
NM_005359.6(SMAD4):c.492T>C (p.His164=) rs2144418064
NM_005359.6(SMAD4):c.495C>T (p.Asp165=)
NM_005359.6(SMAD4):c.498del (p.Phe166fs) rs1909795937
NM_005359.6(SMAD4):c.49C>T (p.Leu17=) rs1555684997
NM_005359.6(SMAD4):c.4G>C (p.Asp2His)
NM_005359.6(SMAD4):c.501G>A (p.Glu167=)
NM_005359.6(SMAD4):c.503G>A (p.Gly168Glu) rs1555685631
NM_005359.6(SMAD4):c.504A>T (p.Gly168=)
NM_005359.6(SMAD4):c.505C>T (p.Gln169Ter) rs1449334786
NM_005359.6(SMAD4):c.507G>A (p.Gln169=) rs876659426
NM_005359.6(SMAD4):c.508C>T (p.Pro170Ser)
NM_005359.6(SMAD4):c.510A>T (p.Pro170=) rs144226135
NM_005359.6(SMAD4):c.512C>T (p.Ser171Leu) rs1568205010
NM_005359.6(SMAD4):c.513G>A (p.Ser171=) rs1210446538
NM_005359.6(SMAD4):c.513G>C (p.Ser171=) rs1210446538
NM_005359.6(SMAD4):c.513G>T (p.Ser171=) rs1210446538
NM_005359.6(SMAD4):c.516G>A (p.Leu172=) rs1392368498
NM_005359.6(SMAD4):c.516G>T (p.Leu172Phe) rs1392368498
NM_005359.6(SMAD4):c.517T>G (p.Ser173Ala)
NM_005359.6(SMAD4):c.51G>A (p.Leu17=)
NM_005359.6(SMAD4):c.51G>C (p.Leu17=) rs950414097
NM_005359.6(SMAD4):c.520A>G (p.Thr174Ala) rs1333974956
NM_005359.6(SMAD4):c.522T>A (p.Thr174=) rs2144418435
NM_005359.6(SMAD4):c.522T>C (p.Thr174=)
NM_005359.6(SMAD4):c.526_528del (p.Gly176del)
NM_005359.6(SMAD4):c.527G>T (p.Gly176Val)
NM_005359.6(SMAD4):c.528A>T (p.Gly176=)
NM_005359.6(SMAD4):c.529C>T (p.His177Tyr) rs1909797279
NM_005359.6(SMAD4):c.530A>C (p.His177Pro) rs1568205026
NM_005359.6(SMAD4):c.530A>G (p.His177Arg) rs1568205026
NM_005359.6(SMAD4):c.530A>T (p.His177Leu) rs1568205026
NM_005359.6(SMAD4):c.533C>A (p.Ser178Ter) rs377767331
NM_005359.6(SMAD4):c.533C>G (p.Ser178Ter) rs377767331
NM_005359.6(SMAD4):c.534A>G (p.Ser178=)
NM_005359.6(SMAD4):c.535A>T (p.Ile179Phe) rs542392980
NM_005359.6(SMAD4):c.538C>G (p.Gln180Glu) rs377767332
NM_005359.6(SMAD4):c.538C>T (p.Gln180Ter) rs377767332
NM_005359.6(SMAD4):c.540A>C (p.Gln180His) rs1203141844
NM_005359.6(SMAD4):c.541A>C (p.Thr181Pro)
NM_005359.6(SMAD4):c.541A>G (p.Thr181Ala) rs1599186888
NM_005359.6(SMAD4):c.541A>T (p.Thr181Ser) rs1599186888
NM_005359.6(SMAD4):c.542C>A (p.Thr181Asn) rs1909797937
NM_005359.6(SMAD4):c.542C>G (p.Thr181Ser) rs1909797937
NM_005359.6(SMAD4):c.544A>G (p.Ile182Val) rs1909797996
NM_005359.6(SMAD4):c.546C>G (p.Ile182Met) rs1599186890
NM_005359.6(SMAD4):c.546C>T (p.Ile182=) rs1599186890
NM_005359.6(SMAD4):c.547C>G (p.Gln183Glu) rs1555685645
NM_005359.6(SMAD4):c.547C>T (p.Gln183Ter) rs1555685645
NM_005359.6(SMAD4):c.548A>G (p.Gln183Arg)
NM_005359.6(SMAD4):c.553C>A (p.Pro185Thr)
NM_005359.6(SMAD4):c.553C>T (p.Pro185Ser) rs2144418704
NM_005359.6(SMAD4):c.554C>A (p.Pro185Gln) rs770798845
NM_005359.6(SMAD4):c.555A>C (p.Pro185=) rs2144418720
NM_005359.6(SMAD4):c.555A>G (p.Pro185=)
NM_005359.6(SMAD4):c.556C>G (p.Pro186Ala) rs1555685648
NM_005359.6(SMAD4):c.557C>G (p.Pro186Arg) rs1909798390
NM_005359.6(SMAD4):c.557C>T (p.Pro186Leu) rs1909798390
NM_005359.6(SMAD4):c.558A>G (p.Pro186=)
NM_005359.6(SMAD4):c.559A>C (p.Ser187Arg)
NM_005359.6(SMAD4):c.55A>G (p.Ile19Val) rs1568202964
NM_005359.6(SMAD4):c.560G>A (p.Ser187Asn) rs927620013
NM_005359.6(SMAD4):c.560G>C (p.Ser187Thr) rs927620013
NM_005359.6(SMAD4):c.562A>C (p.Asn188His) rs2144418756
NM_005359.6(SMAD4):c.563del (p.Asn188fs) rs2144418764
NM_005359.6(SMAD4):c.564T>G (p.Asn188Lys) rs1909798588
NM_005359.6(SMAD4):c.565C>A (p.Arg189Ser) rs140743238
NM_005359.6(SMAD4):c.565C>G (p.Arg189Gly) rs140743238
NM_005359.6(SMAD4):c.566G>T (p.Arg189Leu) rs759288477
NM_005359.6(SMAD4):c.569C>G (p.Ala190Gly)
NM_005359.6(SMAD4):c.570A>C (p.Ala190=) rs200717327
NM_005359.6(SMAD4):c.570A>G (p.Ala190=)
NM_005359.6(SMAD4):c.572C>G (p.Ser191Trp)
NM_005359.6(SMAD4):c.573G>A (p.Ser191=) rs761936246
NM_005359.6(SMAD4):c.574A>G (p.Thr192Ala) rs1599186944
NM_005359.6(SMAD4):c.574A>T (p.Thr192Ser) rs1599186944
NM_005359.6(SMAD4):c.576A>G (p.Thr192=) rs1599186950
NM_005359.6(SMAD4):c.579G>C (p.Glu193Asp) rs2144418968
NM_005359.6(SMAD4):c.580A>T (p.Thr194Ser) rs1432058632
NM_005359.6(SMAD4):c.584A>G (p.Tyr195Cys) rs1555685656
NM_005359.6(SMAD4):c.584dup (p.Tyr195Ter)
NM_005359.6(SMAD4):c.585C>G (p.Tyr195Ter) rs1316902116
NM_005359.6(SMAD4):c.586A>G (p.Ser196Gly) rs946539148
NM_005359.6(SMAD4):c.588C>T (p.Ser196=)
NM_005359.6(SMAD4):c.589A>T (p.Thr197Ser)
NM_005359.6(SMAD4):c.591C>G (p.Thr197=) rs1464524083
NM_005359.6(SMAD4):c.591C>T (p.Thr197=) rs1464524083
NM_005359.6(SMAD4):c.592C>G (p.Pro198Ala)
NM_005359.6(SMAD4):c.592C>T (p.Pro198Ser)
NM_005359.6(SMAD4):c.593C>G (p.Pro198Arg) rs1189715258
NM_005359.6(SMAD4):c.598C>G (p.Leu200Val)
NM_005359.6(SMAD4):c.5A>C (p.Asp2Ala)
NM_005359.6(SMAD4):c.600G>C (p.Leu200=)
NM_005359.6(SMAD4):c.604G>A (p.Ala202Thr) rs1909800453
NM_005359.6(SMAD4):c.605C>T (p.Ala202Val) rs2144419222
NM_005359.6(SMAD4):c.606C>T (p.Ala202=) rs780665234
NM_005359.6(SMAD4):c.607C>G (p.Pro203Ala) rs199809905
NM_005359.6(SMAD4):c.609A>C (p.Pro203=) rs2144419276
NM_005359.6(SMAD4):c.609A>G (p.Pro203=) rs2144419276
NM_005359.6(SMAD4):c.60G>A (p.Val20=) rs1057520442
NM_005359.6(SMAD4):c.611C>G (p.Ser204Cys)
NM_005359.6(SMAD4):c.613G>C (p.Glu205Gln)
NM_005359.6(SMAD4):c.614A>C (p.Glu205Ala) rs748615724
NM_005359.6(SMAD4):c.615G>A (p.Glu205=) rs1555685667
NM_005359.6(SMAD4):c.615G>T (p.Glu205Asp) rs1555685667
NM_005359.6(SMAD4):c.616T>G (p.Ser206Ala) rs1909800988
NM_005359.6(SMAD4):c.617C>G (p.Ser206Cys)
NM_005359.6(SMAD4):c.620del (p.Asn207fs) rs2144419362
NM_005359.6(SMAD4):c.621T>C (p.Asn207=) rs1452122852
NM_005359.6(SMAD4):c.623C>G (p.Ala208Gly)
NM_005359.6(SMAD4):c.625A>G (p.Thr209Ala) rs1555685670
NM_005359.6(SMAD4):c.626C>T (p.Thr209Ile) rs1909801469
NM_005359.6(SMAD4):c.627C>G (p.Thr209=)
NM_005359.6(SMAD4):c.627C>T (p.Thr209=) rs905151346
NM_005359.6(SMAD4):c.628A>G (p.Ser210Gly) rs1568205087
NM_005359.6(SMAD4):c.629G>A (p.Ser210Asn) rs1599187043
NM_005359.6(SMAD4):c.62A>C (p.His21Pro)
NM_005359.6(SMAD4):c.62A>G (p.His21Arg) rs1280706054
NM_005359.6(SMAD4):c.630C>T (p.Ser210=) rs2144419447
NM_005359.6(SMAD4):c.631A>G (p.Thr211Ala) rs1909801735
NM_005359.6(SMAD4):c.632C>T (p.Thr211Ile)
NM_005359.6(SMAD4):c.633T>C (p.Thr211=) rs1060504027
NM_005359.6(SMAD4):c.634G>A (p.Ala212Thr) rs863224732
NM_005359.6(SMAD4):c.635C>T (p.Ala212Val) rs1909801989
NM_005359.6(SMAD4):c.637A>C (p.Asn213His) rs2144419490
NM_005359.6(SMAD4):c.639C>G (p.Asn213Lys) rs878854767
NM_005359.6(SMAD4):c.639C>T (p.Asn213=) rs878854767
NM_005359.6(SMAD4):c.641T>A (p.Phe214Tyr) rs1060500736
NM_005359.6(SMAD4):c.642T>G (p.Phe214Leu) rs1281575334
NM_005359.6(SMAD4):c.643C>G (p.Pro215Ala) rs1064793270
NM_005359.6(SMAD4):c.643C>T (p.Pro215Ser) rs1064793270
NM_005359.6(SMAD4):c.645C>T (p.Pro215=) rs1599187076
NM_005359.6(SMAD4):c.646A>G (p.Asn216Asp)
NM_005359.6(SMAD4):c.648C>T (p.Asn216=) rs1599187091
NM_005359.6(SMAD4):c.649A>G (p.Ile217Val)
NM_005359.6(SMAD4):c.651T>A (p.Ile217=) rs997151197
NM_005359.6(SMAD4):c.651T>G (p.Ile217Met) rs997151197
NM_005359.6(SMAD4):c.652C>G (p.Pro218Ala) rs1345146274
NM_005359.6(SMAD4):c.653C>G (p.Pro218Arg)
NM_005359.6(SMAD4):c.653C>T (p.Pro218Leu) rs1909802993
NM_005359.6(SMAD4):c.655G>A (p.Val219Met)
NM_005359.6(SMAD4):c.656T>C (p.Val219Ala) rs2144419636
NM_005359.6(SMAD4):c.659C>T (p.Ala220Val) rs1909803170
NM_005359.6(SMAD4):c.661T>A (p.Ser221Thr) rs1568205115
NM_005359.6(SMAD4):c.662C>T (p.Ser221Phe)
NM_005359.6(SMAD4):c.663C>T (p.Ser221=)
NM_005359.6(SMAD4):c.664A>G (p.Thr222Ala) rs770461626
NM_005359.6(SMAD4):c.665C>T (p.Thr222Ile)
NM_005359.6(SMAD4):c.667+10A>G rs200331016
NM_005359.6(SMAD4):c.667+12A>C rs1555685677
NM_005359.6(SMAD4):c.667+12A>T
NM_005359.6(SMAD4):c.667+13A>G rs1909804604
NM_005359.6(SMAD4):c.667+14T>A
NM_005359.6(SMAD4):c.667+17G>A rs370726274
NM_005359.6(SMAD4):c.667+17G>C rs370726274
NM_005359.6(SMAD4):c.667+17_667+114del
NM_005359.6(SMAD4):c.667+19T>A
NM_005359.6(SMAD4):c.667+20G>A rs547532436
NM_005359.6(SMAD4):c.667+20G>T rs547532436
NM_005359.6(SMAD4):c.667+22_667+24del rs753440205
NM_005359.6(SMAD4):c.667+6T>A
NM_005359.6(SMAD4):c.667+7T>A rs775133117
NM_005359.6(SMAD4):c.667+7T>G rs775133117
NM_005359.6(SMAD4):c.667+8C>T
NM_005359.6(SMAD4):c.667A>G (p.Ser223Gly) rs1568205121
NM_005359.6(SMAD4):c.668-10G>A rs753050193
NM_005359.6(SMAD4):c.668-10G>C
NM_005359.6(SMAD4):c.668-13C>G
NM_005359.6(SMAD4):c.668-13_668-11del
NM_005359.6(SMAD4):c.668-14T>G
NM_005359.6(SMAD4):c.668-16C>A rs775498596
NM_005359.6(SMAD4):c.668-19T>G rs1555685896
NM_005359.6(SMAD4):c.668-3T>C rs1568206021
NM_005359.6(SMAD4):c.668-4C>G rs2144426544
NM_005359.6(SMAD4):c.668-6C>T rs748992694
NM_005359.6(SMAD4):c.668-6del
NM_005359.6(SMAD4):c.668-8T>C
NM_005359.6(SMAD4):c.668-8T>G rs2144426511
NM_005359.6(SMAD4):c.668G>T (p.Ser223Ile) rs774334251
NM_005359.6(SMAD4):c.673C>T (p.Pro225Ser) rs2144426638
NM_005359.6(SMAD4):c.675T>G (p.Pro225=) rs2144426653
NM_005359.6(SMAD4):c.676G>C (p.Ala226Pro) rs943293684
NM_005359.6(SMAD4):c.680G>A (p.Ser227Asn) rs1909890755
NM_005359.6(SMAD4):c.680G>T (p.Ser227Ile) rs1909890755
NM_005359.6(SMAD4):c.684A>C (p.Ile228=) rs1555685906
NM_005359.6(SMAD4):c.685C>T (p.Leu229=) rs901210743
NM_005359.6(SMAD4):c.686T>G (p.Leu229Arg) rs75667697
NM_005359.6(SMAD4):c.687G>C (p.Leu229=) rs776840348
NM_005359.6(SMAD4):c.687G>T (p.Leu229=)
NM_005359.6(SMAD4):c.688G>A (p.Gly230Arg) rs1568206043
NM_005359.6(SMAD4):c.688G>C (p.Gly230Arg) rs1568206043
NM_005359.6(SMAD4):c.689G>C (p.Gly230Ala) rs1599189454
NM_005359.6(SMAD4):c.690G>A (p.Gly230=) rs1599189462
NM_005359.6(SMAD4):c.690G>C (p.Gly230=) rs1599189462
NM_005359.6(SMAD4):c.691G>A (p.Gly231Ser) rs1599189469
NM_005359.6(SMAD4):c.691G>C (p.Gly231Arg) rs1599189469
NM_005359.6(SMAD4):c.692G>A (p.Gly231Asp) rs759679579
NM_005359.6(SMAD4):c.692G>C (p.Gly231Ala) rs759679579
NM_005359.6(SMAD4):c.692G>T (p.Gly231Val) rs759679579
NM_005359.6(SMAD4):c.692dup (p.Ser232fs) rs377767334
NM_005359.6(SMAD4):c.693C>A (p.Gly231=)
NM_005359.6(SMAD4):c.695G>A (p.Ser232Asn) rs1909891695
NM_005359.6(SMAD4):c.697C>A (p.His233Asn) rs552880257
NM_005359.6(SMAD4):c.699T>C (p.His233=) rs367964910
NM_005359.6(SMAD4):c.699dup (p.Ser234Ter)
NM_005359.6(SMAD4):c.69G>A (p.Leu23=) rs2144400683
NM_005359.6(SMAD4):c.69del (p.Met24fs) rs1599181081
NM_005359.6(SMAD4):c.6C>T (p.Asp2=) rs2144400152
NM_005359.6(SMAD4):c.700A>C (p.Ser234Arg) rs758642067
NM_005359.6(SMAD4):c.700A>G (p.Ser234Gly) rs758642067
NM_005359.6(SMAD4):c.700dup (p.Ser234fs)
NM_005359.6(SMAD4):c.703G>A (p.Glu235Lys)
NM_005359.6(SMAD4):c.705A>G (p.Glu235=) rs1555685912
NM_005359.6(SMAD4):c.707G>A (p.Gly236Glu) rs1568206062
NM_005359.6(SMAD4):c.707G>T (p.Gly236Val)
NM_005359.6(SMAD4):c.710T>C (p.Leu237Pro)
NM_005359.6(SMAD4):c.711G>T (p.Leu237=) rs2144426991
NM_005359.6(SMAD4):c.712T>C (p.Leu238=) rs1599189507
NM_005359.6(SMAD4):c.713_719del (p.Leu237_Leu238insTer) rs2144427004
NM_005359.6(SMAD4):c.714G>A (p.Leu238=) rs2144427019
NM_005359.6(SMAD4):c.714dup (p.Gln239fs) rs2144427024
NM_005359.6(SMAD4):c.715C>G (p.Gln239Glu) rs1163381283
NM_005359.6(SMAD4):c.717G>C (p.Gln239His) rs1599189519
NM_005359.6(SMAD4):c.718A>T (p.Ile240Leu)
NM_005359.6(SMAD4):c.722C>T (p.Ala241Val) rs1909892795
NM_005359.6(SMAD4):c.723A>G (p.Ala241=) rs1599189527
NM_005359.6(SMAD4):c.723A>T (p.Ala241=) rs1599189527
NM_005359.6(SMAD4):c.725C>G (p.Ser242Ter)
NM_005359.6(SMAD4):c.728G>C (p.Gly243Ala) rs2144427170
NM_005359.6(SMAD4):c.728_735del (p.Gly243fs) rs1060500742
NM_005359.6(SMAD4):c.729G>A (p.Gly243=)
NM_005359.6(SMAD4):c.72G>A (p.Met24Ile)
NM_005359.6(SMAD4):c.731C>T (p.Pro244Leu) rs764421512
NM_005359.6(SMAD4):c.734A>G (p.Gln245Arg) rs1909893203
NM_005359.6(SMAD4):c.737C>T (p.Pro246Leu) rs2144427298
NM_005359.6(SMAD4):c.738A>G (p.Pro246=) rs2144427309
NM_005359.6(SMAD4):c.740G>A (p.Gly247Glu) rs1909893398
NM_005359.6(SMAD4):c.742C>G (p.Gln248Glu)
NM_005359.6(SMAD4):c.742C>T (p.Gln248Ter) rs2144427357
NM_005359.6(SMAD4):c.745C>G (p.Gln249Glu) rs1370953444
NM_005359.6(SMAD4):c.745_746delinsAG (p.Gln249Arg) rs1599189560
NM_005359.6(SMAD4):c.746_747delinsCC (p.Gln249Pro) rs587782209
NM_005359.6(SMAD4):c.749A>G (p.Gln250Arg) rs879254159
NM_005359.6(SMAD4):c.750G>A (p.Gln250=) rs1555685922
NM_005359.6(SMAD4):c.750G>C (p.Gln250His) rs1555685922
NM_005359.6(SMAD4):c.752A>G (p.Asn251Ser) rs1555685926
NM_005359.6(SMAD4):c.752del (p.Asn251fs) rs1555685925
NM_005359.6(SMAD4):c.754G>T (p.Gly252Ter)
NM_005359.6(SMAD4):c.755G>T (p.Gly252Val) rs878854768
NM_005359.6(SMAD4):c.756A>G (p.Gly252=) rs1244121412
NM_005359.6(SMAD4):c.757T>C (p.Phe253Leu)
NM_005359.6(SMAD4):c.758T>A (p.Phe253Tyr) rs2144427543
NM_005359.6(SMAD4):c.75C>T (p.Cys25=) rs1555685008
NM_005359.6(SMAD4):c.760A>G (p.Thr254Ala) rs1284924848
NM_005359.6(SMAD4):c.763G>T (p.Gly255Cys) rs1555685930
NM_005359.6(SMAD4):c.765T>G (p.Gly255=)
NM_005359.6(SMAD4):c.766C>T (p.Gln256Ter)
NM_005359.6(SMAD4):c.76C>T (p.His26Tyr) rs2144400736
NM_005359.6(SMAD4):c.772G>T (p.Ala258Ser) rs2144427660
NM_005359.6(SMAD4):c.773C>T (p.Ala258Val) rs2144427681
NM_005359.6(SMAD4):c.775A>G (p.Thr259Ala) rs1599189628
NM_005359.6(SMAD4):c.778_779dup (p.His261fs)
NM_005359.6(SMAD4):c.779A>G (p.Tyr260Cys)
NM_005359.6(SMAD4):c.779dup (p.Tyr260Ter) rs2144427739
NM_005359.6(SMAD4):c.780C>A (p.Tyr260Ter)
NM_005359.6(SMAD4):c.780C>T (p.Tyr260=) rs1568206103
NM_005359.6(SMAD4):c.787+10T>C rs2144427862
NM_005359.6(SMAD4):c.787+15T>A rs374687785
NM_005359.6(SMAD4):c.787+15T>C rs374687785
NM_005359.6(SMAD4):c.787+15T>G rs374687785
NM_005359.6(SMAD4):c.787+16A>T rs2144427893
NM_005359.6(SMAD4):c.787+1G>A rs1568206107
NM_005359.6(SMAD4):c.787+21dup rs1312566534
NM_005359.6(SMAD4):c.787+2T>C rs1909895611
NM_005359.6(SMAD4):c.787+4T>C rs2144427833
NM_005359.6(SMAD4):c.787+8C>T rs749225244
NM_005359.6(SMAD4):c.787+9A>C
NM_005359.6(SMAD4):c.787A>C (p.Asn263His)
NM_005359.6(SMAD4):c.787A>G (p.Asn263Asp) rs1568206105
NM_005359.6(SMAD4):c.788-12C>A
NM_005359.6(SMAD4):c.788-12del rs1064794372
NM_005359.6(SMAD4):c.788-13C>G
NM_005359.6(SMAD4):c.788-13C>T
NM_005359.6(SMAD4):c.788-14G>A rs769943457
NM_005359.6(SMAD4):c.788-14G>T rs769943457
NM_005359.6(SMAD4):c.788-16G>A
NM_005359.6(SMAD4):c.788-19T>C rs1909897947
NM_005359.6(SMAD4):c.788-3T>C rs1555685949
NM_005359.6(SMAD4):c.788-7T>C rs1599189718
NM_005359.6(SMAD4):c.788-9A>C rs775484792
NM_005359.6(SMAD4):c.788A>G (p.Asn263Ser)
NM_005359.6(SMAD4):c.789C>G (p.Asn263Lys) rs763510526
NM_005359.6(SMAD4):c.790A>G (p.Ser264Gly) rs587780125
NM_005359.6(SMAD4):c.792C>T (p.Ser264=) rs1555685951
NM_005359.6(SMAD4):c.793A>C (p.Thr265Pro)
NM_005359.6(SMAD4):c.793A>G (p.Thr265Ala) rs1909898754
NM_005359.6(SMAD4):c.796A>G (p.Thr266Ala) rs1909898933
NM_005359.6(SMAD4):c.796ACC[1] (p.Thr267del)
NM_005359.6(SMAD4):c.797C>T (p.Thr266Ile) rs1909899027
NM_005359.6(SMAD4):c.798C>A (p.Thr266=)
NM_005359.6(SMAD4):c.798C>T (p.Thr266=) rs876660662
NM_005359.6(SMAD4):c.798del (p.Thr267fs)
NM_005359.6(SMAD4):c.799A>C (p.Thr267Pro) rs1064793728
NM_005359.6(SMAD4):c.79A>G (p.Arg27Gly)
NM_005359.6(SMAD4):c.800C>T (p.Thr267Ile) rs1555685955
NM_005359.6(SMAD4):c.801C>G (p.Thr267=)
NM_005359.6(SMAD4):c.802T>C (p.Trp268Arg) rs1909899403
NM_005359.6(SMAD4):c.803G>A (p.Trp268Ter)
NM_005359.6(SMAD4):c.804G>C (p.Trp268Cys) rs1909899600
NM_005359.6(SMAD4):c.805A>C (p.Thr269Pro) rs1909899693
NM_005359.6(SMAD4):c.806C>G (p.Thr269Ser) rs1909899785
NM_005359.6(SMAD4):c.810A>C (p.Gly270=) rs1599189762
NM_005359.6(SMAD4):c.811A>G (p.Ser271Gly)
NM_005359.6(SMAD4):c.812G>A (p.Ser271Asn) rs1343555503
NM_005359.6(SMAD4):c.815G>A (p.Arg272Lys) rs2144428590
NM_005359.6(SMAD4):c.816G>A (p.Arg272=) rs1231028123
NM_005359.6(SMAD4):c.817A>G (p.Thr273Ala) rs1909900343
NM_005359.6(SMAD4):c.818C>G (p.Thr273Ser)
NM_005359.6(SMAD4):c.819dup (p.Ala274fs)
NM_005359.6(SMAD4):c.820G>A (p.Ala274Thr) rs751860447
NM_005359.6(SMAD4):c.821C>T (p.Ala274Val) rs2144428659
NM_005359.6(SMAD4):c.822A>G (p.Ala274=)
NM_005359.6(SMAD4):c.825A>G (p.Pro275=) rs762166596
NM_005359.6(SMAD4):c.827A>C (p.Tyr276Ser) rs1229812463
NM_005359.6(SMAD4):c.827A>G (p.Tyr276Cys) rs1229812463
NM_005359.6(SMAD4):c.828C>G (p.Tyr276Ter) rs1909901558
NM_005359.6(SMAD4):c.828C>T (p.Tyr276=) rs1909901558
NM_005359.6(SMAD4):c.829A>G (p.Thr277Ala) rs1555685960
NM_005359.6(SMAD4):c.82C>A (p.Gln28Lys) rs2144400785
NM_005359.6(SMAD4):c.831A>G (p.Thr277=)
NM_005359.6(SMAD4):c.837T>C (p.Asn279=) rs1555685961
NM_005359.6(SMAD4):c.837T>G (p.Asn279Lys) rs1555685961
NM_005359.6(SMAD4):c.841C>G (p.Pro281Ala)
NM_005359.6(SMAD4):c.841C>T (p.Pro281Ser) rs1909902164
NM_005359.6(SMAD4):c.842C>T (p.Pro281Leu) rs1568206174
NM_005359.6(SMAD4):c.843T>C (p.Pro281=) rs1599189809
NM_005359.6(SMAD4):c.844C>T (p.His282Tyr) rs1909902431
NM_005359.6(SMAD4):c.845A>C (p.His282Pro) rs1555685962
NM_005359.6(SMAD4):c.847C>T (p.His283Tyr)
NM_005359.6(SMAD4):c.849C>G (p.His283Gln)
NM_005359.6(SMAD4):c.849C>T (p.His283=) rs2144428968
NM_005359.6(SMAD4):c.850C>T (p.Gln284Ter)
NM_005359.6(SMAD4):c.851A>C (p.Gln284Pro)
NM_005359.6(SMAD4):c.853A>G (p.Asn285Asp)
NM_005359.6(SMAD4):c.856G>T (p.Gly286Cys)
NM_005359.6(SMAD4):c.858C>A (p.Gly286=)
NM_005359.6(SMAD4):c.859C>A (p.His287Asn)
NM_005359.6(SMAD4):c.860A>G (p.His287Arg) rs1568206180
NM_005359.6(SMAD4):c.860dup (p.His287fs)
NM_005359.6(SMAD4):c.861T>C (p.His287=) rs1555685963
NM_005359.6(SMAD4):c.865C>A (p.Gln289Lys) rs1909903439
NM_005359.6(SMAD4):c.86G>A (p.Gly29Asp)
NM_005359.6(SMAD4):c.871C>T (p.His291Tyr) rs863224733
NM_005359.6(SMAD4):c.874C>G (p.Pro292Ala) rs1909904049
NM_005359.6(SMAD4):c.878C>A (p.Pro293His)
NM_005359.6(SMAD4):c.879T>G (p.Pro293=)
NM_005359.6(SMAD4):c.883C>A (p.Pro295Thr)
NM_005359.6(SMAD4):c.885G>C (p.Pro295=)
NM_005359.6(SMAD4):c.885G>T (p.Pro295=) rs772028872
NM_005359.6(SMAD4):c.887C>A (p.Pro296His) rs1417632301
NM_005359.6(SMAD4):c.888C>A (p.Pro296=)
NM_005359.6(SMAD4):c.888C>T (p.Pro296=) rs1060504026
NM_005359.6(SMAD4):c.889C>A (p.His297Asn)
NM_005359.6(SMAD4):c.890A>G (p.His297Arg) rs1060500737
NM_005359.6(SMAD4):c.891T>C (p.His297=) rs1384477319
NM_005359.6(SMAD4):c.892C>A (p.Pro298Thr) rs2144429377
NM_005359.6(SMAD4):c.892C>T (p.Pro298Ser)
NM_005359.6(SMAD4):c.894C>G (p.Pro298=)
NM_005359.6(SMAD4):c.894del (p.Gly299fs) rs2144429392
NM_005359.6(SMAD4):c.895G>A (p.Gly299Arg) rs1330888967
NM_005359.6(SMAD4):c.895_896del (p.Gly299fs)
NM_005359.6(SMAD4):c.897A>C (p.Gly299=) rs1474007516
NM_005359.6(SMAD4):c.898C>G (p.His300Asp)
NM_005359.6(SMAD4):c.899A>G (p.His300Arg) rs1060500731
NM_005359.6(SMAD4):c.89G>T (p.Gly30Val)
NM_005359.6(SMAD4):c.8A>G (p.Asn3Ser) rs757702252
NM_005359.6(SMAD4):c.902dup (p.Tyr301Ter) rs2144429483
NM_005359.6(SMAD4):c.904+10T>C rs1599189949
NM_005359.6(SMAD4):c.904+16_904+17insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCATGCTGTTTTGGTTACTGTAGCCTTGTATGATAGTTTGAAGTCAGGTTGTGTGATTCCTCCAGCTTTGTTCTTTTGGAGTAAGCTCTTGTTTTT rs2144429509
NM_005359.6(SMAD4):c.904+16_904+61del
NM_005359.6(SMAD4):c.904+16dup rs759701996
NM_005359.6(SMAD4):c.904+17G>A rs762952272
NM_005359.6(SMAD4):c.904+18T>C
NM_005359.6(SMAD4):c.904+20G>A
NM_005359.6(SMAD4):c.904+6C>G rs1909906368
NM_005359.6(SMAD4):c.904+6C>T rs1909906368
NM_005359.6(SMAD4):c.904+7T>C rs1207550894
NM_005359.6(SMAD4):c.904+8C>T
NM_005359.6(SMAD4):c.904T>A (p.Trp302Arg)
NM_005359.6(SMAD4):c.904T>C (p.Trp302Arg) rs1555685979
NM_005359.6(SMAD4):c.905-11C>G
NM_005359.6(SMAD4):c.905-11C>T
NM_005359.6(SMAD4):c.905-13G>A rs1488791339
NM_005359.6(SMAD4):c.905-14T>G
NM_005359.6(SMAD4):c.905-15T>C
NM_005359.6(SMAD4):c.905-16G>A rs968227540
NM_005359.6(SMAD4):c.905-19_905-17del rs746847153
NM_005359.6(SMAD4):c.905-1G>T rs1555686070
NM_005359.6(SMAD4):c.905-3T>G
NM_005359.6(SMAD4):c.905-5T>C rs2144433052
NM_005359.6(SMAD4):c.905-6C>G rs777595914
NM_005359.6(SMAD4):c.905-7_905-3del rs2144433011
NM_005359.6(SMAD4):c.905-8T>G rs1249416688
NM_005359.6(SMAD4):c.905-9T>C rs1064795175
NM_005359.6(SMAD4):c.906G>A (p.Trp302Ter) rs878854769
NM_005359.6(SMAD4):c.906G>C (p.Trp302Cys)
NM_005359.6(SMAD4):c.907C>G (p.Pro303Ala) rs1568206575
NM_005359.6(SMAD4):c.907C>T (p.Pro303Ser) rs1568206575
NM_005359.6(SMAD4):c.908C>A (p.Pro303His) rs2144433151
NM_005359.6(SMAD4):c.909T>A (p.Pro303=) rs141149381
NM_005359.6(SMAD4):c.909T>C (p.Pro303=) rs141149381
NM_005359.6(SMAD4):c.909T>G (p.Pro303=) rs141149381
NM_005359.6(SMAD4):c.90A>G (p.Gly30=) rs876660353
NM_005359.6(SMAD4):c.910G>A (p.Val304Ile) rs375185293
NM_005359.6(SMAD4):c.914A>C (p.His305Pro) rs1555686072
NM_005359.6(SMAD4):c.915C>A (p.His305Gln) rs1909959040
NM_005359.6(SMAD4):c.915C>T (p.His305=) rs1909959040
NM_005359.6(SMAD4):c.916A>C (p.Asn306His)
NM_005359.6(SMAD4):c.918T>G (p.Asn306Lys) rs1555686075
NM_005359.6(SMAD4):c.919G>A (p.Glu307Lys) rs1555686079
NM_005359.6(SMAD4):c.921G>A (p.Glu307=) rs876660255
NM_005359.6(SMAD4):c.922C>G (p.Leu308Val) rs1383128743
NM_005359.6(SMAD4):c.923T>C (p.Leu308Pro) rs1599191222
NM_005359.6(SMAD4):c.924T>C (p.Leu308=) rs864622414
NM_005359.6(SMAD4):c.925G>A (p.Ala309Thr) rs774463256
NM_005359.6(SMAD4):c.925G>C (p.Ala309Pro) rs774463256
NM_005359.6(SMAD4):c.926C>T (p.Ala309Val) rs1599191240
NM_005359.6(SMAD4):c.927A>C (p.Ala309=) rs369088915
NM_005359.6(SMAD4):c.927A>G (p.Ala309=) rs369088915
NM_005359.6(SMAD4):c.930C>G (p.Phe310Leu) rs876658257
NM_005359.6(SMAD4):c.930C>T (p.Phe310=)
NM_005359.6(SMAD4):c.933G>A (p.Gln311=) rs2144433447
NM_005359.6(SMAD4):c.934C>T (p.Pro312Ser) rs2144433460
NM_005359.6(SMAD4):c.935C>G (p.Pro312Arg) rs1555686082
NM_005359.6(SMAD4):c.936_939del (p.Pro313fs)
NM_005359.6(SMAD4):c.937C>A (p.Pro313Thr) rs1909960229
NM_005359.6(SMAD4):c.937C>G (p.Pro313Ala) rs1909960229
NM_005359.6(SMAD4):c.938C>A (p.Pro313His)
NM_005359.6(SMAD4):c.938C>T (p.Pro313Leu)
NM_005359.6(SMAD4):c.939C>T (p.Pro313=) rs1305282354
NM_005359.6(SMAD4):c.939dup (p.Ile314fs) rs1568206602
NM_005359.6(SMAD4):c.945C>G (p.Ser315=) rs1408798906
NM_005359.6(SMAD4):c.946A>G (p.Asn316Asp) rs2144433576
NM_005359.6(SMAD4):c.952C>G (p.Pro318Ala) rs1909960667
NM_005359.6(SMAD4):c.954T>C (p.Pro318=) rs773615487
NM_005359.6(SMAD4):c.955+15A>C
NM_005359.6(SMAD4):c.955+19T>G rs372903861
NM_005359.6(SMAD4):c.955+1G>A
NM_005359.6(SMAD4):c.955+1del rs1555686086
NM_005359.6(SMAD4):c.955+20G>C
NM_005359.6(SMAD4):c.955+25_955+43del rs1555686098
NM_005359.6(SMAD4):c.955+4A>G rs760962650
NM_005359.6(SMAD4):c.955+5G>A rs1909960931
NM_005359.6(SMAD4):c.955+6T>C
NM_005359.6(SMAD4):c.956-14T>C
NM_005359.6(SMAD4):c.956-15A>G
NM_005359.6(SMAD4):c.956-17C>G
NM_005359.6(SMAD4):c.956-18C>G
NM_005359.6(SMAD4):c.956-4A>C rs1295343500
NM_005359.6(SMAD4):c.956-4A>T rs1295343500
NM_005359.6(SMAD4):c.956-7C>T rs778959035
NM_005359.6(SMAD4):c.956-9T>C rs2144446199
NM_005359.6(SMAD4):c.956-9T>G rs2144446199
NM_005359.6(SMAD4):c.959C>G (p.Pro320Arg)
NM_005359.6(SMAD4):c.961G>A (p.Glu321Lys)
NM_005359.6(SMAD4):c.963G>A (p.Glu321=) rs1057523565
NM_005359.6(SMAD4):c.968G>A (p.Trp323Ter) rs2144446385
NM_005359.6(SMAD4):c.969G>T (p.Trp323Cys) rs772575670
NM_005359.6(SMAD4):c.96T>C (p.Ser32=)
NM_005359.6(SMAD4):c.973T>A (p.Ser325Thr)
NM_005359.6(SMAD4):c.974C>T (p.Ser325Phe)
NM_005359.6(SMAD4):c.976A>G (p.Ile326Val) rs1402203611
NM_005359.6(SMAD4):c.981T>C (p.Ala327=) rs2144446477
NM_005359.6(SMAD4):c.983A>G (p.Tyr328Cys)
NM_005359.6(SMAD4):c.989A>T (p.Glu330Val)
NM_005359.6(SMAD4):c.98A>G (p.Glu33Gly)
NM_005359.6(SMAD4):c.991A>G (p.Met331Val) rs1599195350
NM_005359.6(SMAD4):c.993G>A (p.Met331Ile) rs1910120904
NM_005359.6(SMAD4):c.993G>C (p.Met331Ile)
NM_005359.6(SMAD4):c.997G>A (p.Val333Ile) rs1274926456

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.