ClinVar Miner

List of variants reported as uncertain significance for Juvenile polyposis syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1399
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HGVS dbSNP gnomAD frequency
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.118G>A (p.Asp40Asn) rs587781556 0.00006
NM_004329.3(BMPR1A):c.1520A>G (p.Asn507Ser) rs750840234 0.00006
NM_004329.3(BMPR1A):c.83G>A (p.Ser28Asn) rs371904636 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.140G>A (p.Gly47Glu) rs368595543 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.583C>A (p.Gln195Lys) rs771910503 0.00004
NM_004329.3(BMPR1A):c.760C>T (p.Arg254Cys) rs587782578 0.00004
NM_004329.3(BMPR1A):c.1420G>C (p.Val474Leu) rs567733221 0.00003
NM_004329.3(BMPR1A):c.1596C>G (p.Ile532Met) rs201345248 0.00003
NM_004329.3(BMPR1A):c.437T>C (p.Phe146Ser) rs587778112 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_005359.6(SMAD4):c.20C>T (p.Thr7Met) rs372316981 0.00003
NM_005359.6(SMAD4):c.332A>C (p.His111Pro) rs1064794363 0.00003
NM_004329.3(BMPR1A):c.1048T>C (p.Tyr350His) rs749571434 0.00002
NM_004329.3(BMPR1A):c.119A>C (p.Asp40Ala) rs1060503403 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.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.731G>A (p.Arg244Gln) rs147971049 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.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_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.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.1112A>C (p.Lys371Thr) rs1490421596 0.00001
NM_004329.3(BMPR1A):c.1153G>A (p.Val385Ile) rs1060503396 0.00001
NM_004329.3(BMPR1A):c.1166G>T (p.Ser389Ile) rs879254049 0.00001
NM_004329.3(BMPR1A):c.1204G>A (p.Val402Met) rs1462602717 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.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.1324C>T (p.Arg442Cys) rs587782496 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.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.1475G>A (p.Cys492Tyr) rs1256130183 0.00001
NM_004329.3(BMPR1A):c.1481G>A (p.Arg494Gln) rs1204089728 0.00001
NM_004329.3(BMPR1A):c.1513G>A (p.Ala505Thr) rs369966011 0.00001
NM_004329.3(BMPR1A):c.1538C>G (p.Thr513Arg) rs1201398448 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.22A>G (p.Ile8Val) rs863224719 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.332A>G (p.Lys111Arg) rs756944246 0.00001
NM_004329.3(BMPR1A):c.347C>T (p.Ala116Val) rs750097648 0.00001
NM_004329.3(BMPR1A):c.377G>A (p.Arg126Gln) rs864622549 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.454C>G (p.Arg152Gly) rs1131691178 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.524G>A (p.Cys175Tyr) rs370091063 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.59G>A (p.Arg20His) rs759014147 0.00001
NM_004329.3(BMPR1A):c.5C>T (p.Pro2Leu) rs143248687 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.676G>T (p.Val226Phe) rs587780110 0.00001
NM_004329.3(BMPR1A):c.68-20A>G rs750599523 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.74A>G (p.Asn25Ser) rs1060503410 0.00001
NM_004329.3(BMPR1A):c.751G>T (p.Gly251Cys) rs750513716 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.784G>A (p.Val262Ile) rs748790017 0.00001
NM_004329.3(BMPR1A):c.785T>G (p.Val262Gly) rs770830310 0.00001
NM_004329.3(BMPR1A):c.791T>C (p.Phe264Ser) rs775377247 0.00001
NM_004329.3(BMPR1A):c.818G>A (p.Arg273Gln) rs762178061 0.00001
NM_004329.3(BMPR1A):c.841G>C (p.Val281Leu) rs141625907 0.00001
NM_004329.3(BMPR1A):c.868+9A>G rs766298777 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.914T>G (p.Leu305Arg) rs1453306253 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.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.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.1124C>T (p.Ala375Val) rs1555686499 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.1393G>A (p.Val465Met) rs786201798 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.181A>G (p.Ile61Val) rs1064794204 0.00001
NM_005359.6(SMAD4):c.38A>G (p.Asn13Ser) rs281875323 0.00001
NM_005359.6(SMAD4):c.400G>A (p.Glu134Lys) rs748395067 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.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.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.622G>A (p.Ala208Thr) rs1046411210 0.00001
NM_005359.6(SMAD4):c.638A>G (p.Asn213Ser) rs757977781 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+6T>C rs1060500745 0.00001
NM_005359.6(SMAD4):c.671A>T (p.Gln224Leu) rs587780793 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.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.827A>T (p.Tyr276Phe) rs1229812463 0.00001
NM_005359.6(SMAD4):c.832C>A (p.Pro278Thr) rs1257577085 0.00001
NM_005359.6(SMAD4):c.856G>A (p.Gly286Ser) rs750111831 0.00001
NM_005359.6(SMAD4):c.875C>T (p.Pro292Leu) rs786201404 0.00001
NM_005359.6(SMAD4):c.887C>T (p.Pro296Leu) rs1417632301 0.00001
NM_005359.6(SMAD4):c.903C>T (p.Tyr301=) rs746084369 0.00001
NM_005359.6(SMAD4):c.905-3T>C rs746836038 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
NC_000010.10:g.(?_88514773)_(88598738_?)dup
NC_000010.10:g.(?_88598623)_(88603267_?)dup
NC_000010.10:g.(?_88598623)_(88649987_?)dup
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.(?_88659541)_(88683476_?)dup
NC_000010.11:g.(?_86755016)_(86756919_?)dup
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_000018.10:g.(?_51030213)_(51030623_?)del
NC_000018.10:g.(?_51030213)_(51078467_?)dup
NC_000018.9:g.(?_48556583)_(48556993_?)dup
NC_000018.9:g.(?_48556583)_(48603156_?)dup
NC_000018.9:g.(?_48556583)_(48604847_?)dup
NC_000018.9:g.(?_48603002)_(48604843_?)dup
NM_004329.3(BMPR1A):c.-268+37418C>T
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.1012G>T (p.Ala338Ser) rs1564724239
NM_004329.3(BMPR1A):c.1015G>A (p.Ala339Thr) rs758432395
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.1031A>G (p.His344Arg) rs1843626230
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.1042G>C (p.Glu348Gln) rs1060503398
NM_004329.3(BMPR1A):c.1044A>T (p.Glu348Asp) rs781082609
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.1061G>A (p.Gly354Glu)
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.107A>C (p.Lys36Thr) rs1564714779
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.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.1102A>G (p.Ile368Val) rs1589291789
NM_004329.3(BMPR1A):c.1102A>T (p.Ile368Phe) rs1589291789
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.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.1120G>T (p.Gly374Trp) rs2133593589
NM_004329.3(BMPR1A):c.112G>C (p.Asp38His) rs1554888103
NM_004329.3(BMPR1A):c.112G>T (p.Asp38Tyr)
NM_004329.3(BMPR1A):c.1132A>G (p.Ile378Val)
NM_004329.3(BMPR1A):c.1138G>C (p.Asp380His)
NM_004329.3(BMPR1A):c.1141C>G (p.Leu381Val) rs864622566
NM_004329.3(BMPR1A):c.1144G>A (p.Gly382Ser)
NM_004329.3(BMPR1A):c.1144G>T (p.Gly382Cys)
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.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+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.1166G>A (p.Ser389Asn) rs879254049
NM_004329.3(BMPR1A):c.1167-13T>G rs1057517581
NM_004329.3(BMPR1A):c.1167-3C>A
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.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.1178A>T (p.Glu393Val) rs1589292573
NM_004329.3(BMPR1A):c.1180G>A (p.Val394Ile)
NM_004329.3(BMPR1A):c.1181T>C (p.Val394Ala) rs2133605898
NM_004329.3(BMPR1A):c.1186G>A (p.Val396Met) rs1161972977
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.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.1210A>C (p.Thr404Pro)
NM_004329.3(BMPR1A):c.1214A>G (p.Lys405Arg) rs1064795593
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.1220A>G (p.Tyr407Cys) rs1554891322
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.1229C>T (p.Pro410Leu) rs2133606748
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.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.1247G>A (p.Ser416Asn) rs1060503395
NM_004329.3(BMPR1A):c.1249C>G (p.Leu417Val) rs1554891334
NM_004329.3(BMPR1A):c.124A>G (p.Lys42Glu) rs786203156
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.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.1266C>G (p.Phe422Leu) rs786202823
NM_004329.3(BMPR1A):c.1268A>G (p.Gln423Arg) rs2133607541
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.1276A>C (p.Ile426Leu) rs780148965
NM_004329.3(BMPR1A):c.1276A>G (p.Ile426Val) rs780148965
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.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.1290C>G (p.Ile430Met)
NM_004329.3(BMPR1A):c.1292A>G (p.Tyr431Cys) rs1554891343
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>T (p.Lys43Asn) rs1843126055
NM_004329.3(BMPR1A):c.1300G>T (p.Gly434Cys) rs587780108
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.130T>C (p.Ser44Pro) rs2133395138
NM_004329.3(BMPR1A):c.1310T>C (p.Ile437Thr) rs2133608360
NM_004329.3(BMPR1A):c.1313G>T (p.Trp438Leu) rs1589292704
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.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.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.1342+3G>A rs2133608987
NM_004329.3(BMPR1A):c.1342+5G>A rs878854663
NM_004329.3(BMPR1A):c.1342G>A (p.Gly448Arg) rs2133608943
NM_004329.3(BMPR1A):c.1343-11_1343-10delinsCG
NM_004329.3(BMPR1A):c.1346T>C (p.Ile449Thr) rs587781884
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.1355A>T (p.Glu452Val)
NM_004329.3(BMPR1A):c.1357T>C (p.Tyr453His)
NM_004329.3(BMPR1A):c.1364T>C (p.Leu455Ser) rs1554891572
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.1373A>G (p.Tyr458Cys) rs1843694986
NM_004329.3(BMPR1A):c.1373A>T (p.Tyr458Phe) rs1843694986
NM_004329.3(BMPR1A):c.1376A>G (p.Asn459Ser) rs1564725605
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.1385C>G (p.Pro462Arg) rs1418504897
NM_004329.3(BMPR1A):c.1388G>A (p.Ser463Asn) rs1843695402
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.1396T>C (p.Ser466Pro)
NM_004329.3(BMPR1A):c.1397C>T (p.Ser466Leu) rs1843695578
NM_004329.3(BMPR1A):c.1399T>C (p.Tyr467His)
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.1418T>C (p.Val473Ala)
NM_004329.3(BMPR1A):c.1420G>T (p.Val474Leu) rs567733221
NM_004329.3(BMPR1A):c.1421T>C (p.Val474Ala)
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.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.1439G>A (p.Arg480Gln) rs535109719
NM_004329.3(BMPR1A):c.1439G>T (p.Arg480Leu) rs535109719
NM_004329.3(BMPR1A):c.1445T>C (p.Ile482Thr)
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.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.1459T>A (p.Trp487Arg) rs112883778
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.1471G>A (p.Glu491Lys) rs1329735599
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.1474-3C>A rs1554891636
NM_004329.3(BMPR1A):c.1474-9_1474-5del rs2133623605
NM_004329.3(BMPR1A):c.1480C>G (p.Arg494Gly)
NM_004329.3(BMPR1A):c.1486G>A (p.Val496Ile) rs753939029
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.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.1516C>T (p.His506Tyr)
NM_004329.3(BMPR1A):c.151G>A (p.Ala51Thr) rs1554888117
NM_004329.3(BMPR1A):c.1525G>T (p.Ala509Ser) rs1564725805
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.1537A>G (p.Thr513Ala)
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>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.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.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.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.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.160G>A (p.Asp54Asn) rs1843126765
NM_004329.3(BMPR1A):c.160G>T (p.Asp54Tyr)
NM_004329.3(BMPR1A):c.161A>T (p.Asp54Val) rs1554888124
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.167T>G (p.Leu56Trp) rs1554888125
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.173T>G (p.Phe58Cys) rs1843127298
NM_004329.3(BMPR1A):c.176T>C (p.Leu59Ser)
NM_004329.3(BMPR1A):c.179A>G (p.Lys60Arg) rs1589763421
NM_004329.3(BMPR1A):c.182G>A (p.Cys61Tyr)
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.191C>T (p.Ser64Leu) rs760515128
NM_004329.3(BMPR1A):c.194G>A (p.Gly65Glu) rs1589763441
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.205G>T (p.Asp69Tyr) rs1177143902
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.211G>A (p.Ala71Thr) rs1589763471
NM_004329.3(BMPR1A):c.212C>T (p.Ala71Val) rs1843128283
NM_004329.3(BMPR1A):c.214A>G (p.Ile72Val) rs1064795729
NM_004329.3(BMPR1A):c.219_230del (p.Asn73_Ile77delinsLys) rs2133396668
NM_004329.3(BMPR1A):c.221A>C (p.Asn74Thr) rs2133396691
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+5G>A
NM_004329.3(BMPR1A):c.231-3T>C
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.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.244T>A (p.Cys82Ser) rs1060503406
NM_004329.3(BMPR1A):c.244T>G (p.Cys82Gly) rs1060503406
NM_004329.3(BMPR1A):c.245G>A (p.Cys82Tyr)
NM_004329.3(BMPR1A):c.247T>C (p.Phe83Leu)
NM_004329.3(BMPR1A):c.248T>A (p.Phe83Tyr) rs1843160072
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.256A>G (p.Ile86Val) rs1554888312
NM_004329.3(BMPR1A):c.257T>C (p.Ile86Thr) rs876659498
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.265G>A (p.Asp89Asn)
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.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.292T>G (p.Ser98Ala) rs1564715478
NM_004329.3(BMPR1A):c.29T>C (p.Leu10Ser) rs2133321352
NM_004329.3(BMPR1A):c.301A>G (p.Met101Val) rs2133408803
NM_004329.3(BMPR1A):c.306A>T (p.Lys102Asn)
NM_004329.3(BMPR1A):c.308A>T (p.Tyr103Phe)
NM_004329.3(BMPR1A):c.313G>A (p.Gly105Arg)
NM_004329.3(BMPR1A):c.314G>A (p.Gly105Glu) rs1843161877
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.32T>G (p.Leu11Trp) rs1842917459
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.334-3T>C rs1060503411
NM_004329.3(BMPR1A):c.334-7_334-3del rs2133453116
NM_004329.3(BMPR1A):c.335A>T (p.Asp112Val) rs2133453165
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.343_345inv (p.Lys115Phe)
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.356G>A (p.Arg119His) rs1554888965
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.362C>T (p.Thr121Ile) rs1554888969
NM_004329.3(BMPR1A):c.365T>C (p.Ile122Thr) rs1554888971
NM_004329.3(BMPR1A):c.367G>A (p.Glu123Lys) rs1843280822
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.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.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.402G>C (p.Leu134Phe) rs2133454421
NM_004329.3(BMPR1A):c.407C>T (p.Pro136Leu) rs1554888980
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.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.419C>T (p.Pro140Leu) rs1312138101
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.428T>C (p.Ile143Thr)
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.431-3C>T rs876659613
NM_004329.3(BMPR1A):c.431-6T>A rs1589768166
NM_004329.3(BMPR1A):c.431-6del rs1843285770
NM_004329.3(BMPR1A):c.431G>A (p.Gly144Asp)
NM_004329.3(BMPR1A):c.431G>T (p.Gly144Val) rs1843285922
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.436T>G (p.Phe146Val) rs1554889007
NM_004329.3(BMPR1A):c.438T>G (p.Phe146Leu) rs1564717849
NM_004329.3(BMPR1A):c.440T>C (p.Phe147Ser) rs371243894
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.455G>T (p.Arg152Leu)
NM_004329.3(BMPR1A):c.457T>G (p.Trp153Gly) rs2133456471
NM_004329.3(BMPR1A):c.45G>C (p.Leu15Phe) rs2133321682
NM_004329.3(BMPR1A):c.463G>T (p.Val155Phe) rs1589768221
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.475T>C (p.Ser159Pro) rs767157505
NM_004329.3(BMPR1A):c.476C>T (p.Ser159Phe) rs1843287105
NM_004329.3(BMPR1A):c.485T>G (p.Val162Gly) rs1589768250
NM_004329.3(BMPR1A):c.488G>T (p.Cys163Phe) rs1843287435
NM_004329.3(BMPR1A):c.494T>C (p.Ile165Thr) rs1260484420
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.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.504C>G (p.Ile168Met) rs778615896
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.511T>C (p.Ser171Pro) rs377733546
NM_004329.3(BMPR1A):c.512C>T (p.Ser171Phe) rs781286980
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+15_530+33del rs1843289071
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+9A>G
NM_004329.3(BMPR1A):c.531-4A>G rs1843500723
NM_004329.3(BMPR1A):c.531-5A>G
NM_004329.3(BMPR1A):c.531-6T>A 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.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.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.547A>G (p.Ile183Val) rs935076000
NM_004329.3(BMPR1A):c.547A>T (p.Ile183Phe) rs935076000
NM_004329.3(BMPR1A):c.551C>T (p.Ser184Leu) rs1131691185
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.563G>T (p.Arg188Leu) rs749780872
NM_004329.3(BMPR1A):c.565T>C (p.Tyr189His) rs1564721927
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>C (p.Asp192His) rs1843502418
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.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>G (p.Asp196Glu) rs1564721952
NM_004329.3(BMPR1A):c.58C>T (p.Arg20Cys) rs1472397694
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.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.604G>T (p.Val202Phe) rs878854670
NM_004329.3(BMPR1A):c.605T>C (p.Val202Ala) rs879254158
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.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.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>G (p.Asp211Gly) rs1843503680
NM_004329.3(BMPR1A):c.634C>G (p.Gln212Glu) rs876658138
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.649G>A (p.Gly217Ser) rs766093107
NM_004329.3(BMPR1A):c.64C>G (p.Gln22Glu) rs1554886821
NM_004329.3(BMPR1A):c.650G>T (p.Gly217Val)
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>G (p.Ser218Arg) rs1843504209
NM_004329.3(BMPR1A):c.656G>A (p.Gly219Glu) rs878854671
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.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+3077G>T
NM_004329.3(BMPR1A):c.67+6T>C
NM_004329.3(BMPR1A):c.675+6T>C rs1564722020
NM_004329.3(BMPR1A):c.676-8C>A rs1554890727
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>G rs2133394136
NM_004329.3(BMPR1A):c.68-3710_68-3696delinsCC
NM_004329.3(BMPR1A):c.68-9T>A
NM_004329.3(BMPR1A):c.680A>G (p.Gln227Arg)
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.695A>G (p.Lys232Arg) rs587781341
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>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.710T>C (p.Val237Ala) rs1843583262
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.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.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.741A>C (p.Glu247Asp) rs1843584257
NM_004329.3(BMPR1A):c.745T>C (p.Trp249Arg) rs1006323095
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.761G>C (p.Arg254Pro) rs766908700
NM_004329.3(BMPR1A):c.761G>T (p.Arg254Leu) rs766908700
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.773T>C (p.Val258Ala) rs1589290731
NM_004329.3(BMPR1A):c.776C>T (p.Ala259Val) rs905457708
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.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.794C>A (p.Thr265Asn)
NM_004329.3(BMPR1A):c.794C>T (p.Thr265Ile) rs1064793937
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.818G>T (p.Arg273Leu) rs762178061
NM_004329.3(BMPR1A):c.823A>G (p.Thr275Ala)
NM_004329.3(BMPR1A):c.827A>C (p.Glu276Ala) rs1843587797
NM_004329.3(BMPR1A):c.829A>G (p.Ile277Val) rs1060503400
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.839C>G (p.Thr280Ser) rs1064793497
NM_004329.3(BMPR1A):c.842T>C (p.Val281Ala)
NM_004329.3(BMPR1A):c.845T>G (p.Leu282Arg)
NM_004329.3(BMPR1A):c.850C>T (p.Arg284Cys) rs765530074
NM_004329.3(BMPR1A):c.851G>A (p.Arg284His)
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.866T>G (p.Leu289Arg) rs2133577872
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.869-6G>A rs1843620547
NM_004329.3(BMPR1A):c.869-8C>G 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.886A>G (p.Ile296Val) rs1554891019
NM_004329.3(BMPR1A):c.887T>C (p.Ile296Thr) rs1554891022
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.895A>G (p.Thr299Ala) rs876660756
NM_004329.3(BMPR1A):c.89T>G (p.Leu30Arg) rs1194403044
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.907A>G (p.Thr303Ala) rs1554891025
NM_004329.3(BMPR1A):c.910C>A (p.Gln304Lys) rs1404557708
NM_004329.3(BMPR1A):c.917A>G (p.Tyr306Cys) rs955604329
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.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.934C>G (p.His312Asp)
NM_004329.3(BMPR1A):c.934C>T (p.His312Tyr) rs1437385150
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.943G>A (p.Gly315Arg) rs730881435
NM_004329.3(BMPR1A):c.944G>A (p.Gly315Glu)
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.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.95G>A (p.Gly32Asp) rs1843125149
NM_004329.3(BMPR1A):c.960C>G (p.Phe320Leu) rs1564724183
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.971C>T (p.Ala324Val)
NM_004329.3(BMPR1A):c.973A>G (p.Thr325Ala) rs1554891047
NM_004329.3(BMPR1A):c.979G>A (p.Asp327Asn) rs1843624502
NM_004329.3(BMPR1A):c.982A>C (p.Thr328Pro) rs2133591098
NM_004329.3(BMPR1A):c.982A>G (p.Thr328Ala)
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.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.9G>C (p.Gln3His) rs1589757057
NM_005359.5(SMAD4):c.1616_1631del16insCA (p.Val539Alafs) rs1568211617
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.1007G>A (p.Gly336Glu) rs1060500732
NM_005359.6(SMAD4):c.1013C>G (p.Thr338Arg) rs2144446765
NM_005359.6(SMAD4):c.1018A>G (p.Lys340Glu) rs1599195392
NM_005359.6(SMAD4):c.1025C>T (p.Pro342Leu) rs2144446883
NM_005359.6(SMAD4):c.1030A>G (p.Ser344Gly) rs1568208203
NM_005359.6(SMAD4):c.1034G>C (p.Cys345Ser) rs2144446938
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.1041T>G (p.Ile347Met) rs905881679
NM_005359.6(SMAD4):c.1042G>A (p.Val348Ile) rs1910122648
NM_005359.6(SMAD4):c.1049T>C (p.Val350Ala)
NM_005359.6(SMAD4):c.104T>A (p.Phe35Tyr) rs786202127
NM_005359.6(SMAD4):c.1052A>T (p.Asp351Val) rs1060500741
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.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.1091T>C (p.Leu364Ser)
NM_005359.6(SMAD4):c.1103C>T (p.Ser368Phe) rs1910125223
NM_005359.6(SMAD4):c.1112A>G (p.His371Arg) rs1910125636
NM_005359.6(SMAD4):c.1118C>T (p.Thr373Ile)
NM_005359.6(SMAD4):c.1123G>A (p.Ala375Thr)
NM_005359.6(SMAD4):c.1126A>G (p.Ile376Val) rs1555686501
NM_005359.6(SMAD4):c.1127T>C (p.Ile376Thr)
NM_005359.6(SMAD4):c.1138A>T (p.Arg380Trp) rs1568208291
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.1140-3A>T
NM_005359.6(SMAD4):c.1145A>C (p.His382Pro)
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.1159G>A (p.Val387Met) rs1010877617
NM_005359.6(SMAD4):c.1171T>C (p.Cys391Arg)
NM_005359.6(SMAD4):c.1172G>A (p.Cys391Tyr) rs2144451919
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.1196T>A (p.Val399Asp) rs1910180431
NM_005359.6(SMAD4):c.1198A>G (p.Arg400Gly) rs1910180511
NM_005359.6(SMAD4):c.11T>C (p.Met4Thr) rs2144400196
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.1204C>A (p.Leu402Ile)
NM_005359.6(SMAD4):c.1207A>G (p.Ser403Gly) rs2144452187
NM_005359.6(SMAD4):c.1212C>A (p.Asp404Glu)
NM_005359.6(SMAD4):c.1217C>T (p.Ala406Val) rs1064796102
NM_005359.6(SMAD4):c.1226T>C (p.Val409Ala) rs1555686607
NM_005359.6(SMAD4):c.1232G>A (p.Ser411Asn) rs2144452401
NM_005359.6(SMAD4):c.1237T>G (p.Tyr413Asp) rs1910182791
NM_005359.6(SMAD4):c.1253C>T (p.Ala418Val) rs2144452596
NM_005359.6(SMAD4):c.1258C>T (p.Arg420Cys) rs1367209662
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.1262C>T (p.Ala421Val)
NM_005359.6(SMAD4):c.1264C>T (p.Pro422Ser)
NM_005359.6(SMAD4):c.1276G>A (p.Val426Ile) rs1555686617
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.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.1295G>A (p.Ser432Asn) rs770301659
NM_005359.6(SMAD4):c.1300T>A (p.Tyr434Asn)
NM_005359.6(SMAD4):c.1301A>G (p.Tyr434Cys) rs780610518
NM_005359.6(SMAD4):c.1305A>G (p.Ile435Met)
NM_005359.6(SMAD4):c.1307A>C (p.Lys436Thr)
NM_005359.6(SMAD4):c.1308+4A>T rs1555686626
NM_005359.6(SMAD4):c.1308+5_1308+11del
NM_005359.6(SMAD4):c.1309-17A>G
NM_005359.6(SMAD4):c.1309G>A (p.Val437Ile) rs1568211172
NM_005359.6(SMAD4):c.130G>T (p.Val44Leu)
NM_005359.6(SMAD4):c.131T>C (p.Val44Ala) rs2144401151
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.1326G>C (p.Gln442His) rs1568211178
NM_005359.6(SMAD4):c.1327T>G (p.Cys443Gly)
NM_005359.6(SMAD4):c.1334G>A (p.Arg445Gln)
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.1346A>G (p.Gln449Arg)
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.1355C>T (p.Ala452Val) rs2144473900
NM_005359.6(SMAD4):c.1357A>G (p.Thr453Ala)
NM_005359.6(SMAD4):c.1366G>A (p.Ala456Thr)
NM_005359.6(SMAD4):c.1372G>A (p.Ala458Thr)
NM_005359.6(SMAD4):c.1375G>A (p.Ala459Thr) rs1910479958
NM_005359.6(SMAD4):c.1385C>T (p.Ala462Val) rs2144474198
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.1403A>G (p.Asn468Ser) rs569981255
NM_005359.6(SMAD4):c.1405A>G (p.Ile469Val) rs876658851
NM_005359.6(SMAD4):c.1408C>A (p.Pro470Thr)
NM_005359.6(SMAD4):c.1409C>G (p.Pro470Arg) rs1599204186
NM_005359.6(SMAD4):c.1411G>A (p.Gly471Ser) rs2144474442
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.1420T>A (p.Ser474Thr)
NM_005359.6(SMAD4):c.1423G>C (p.Val475Leu) rs864622428
NM_005359.6(SMAD4):c.1432A>G (p.Ile478Val) rs2144474631
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.1444A>G (p.Ile482Val) rs864622736
NM_005359.6(SMAD4):c.1447+3A>T rs754526507
NM_005359.6(SMAD4):c.1447+4A>G rs778631062
NM_005359.6(SMAD4):c.1447A>G (p.Ser483Gly) rs1910483270
NM_005359.6(SMAD4):c.1448-1G>A rs1910517904
NM_005359.6(SMAD4):c.1448-2A>G
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.1468A>G (p.Ile490Val)
NM_005359.6(SMAD4):c.1476TGA[1] (p.Asp494del) rs1910518741
NM_005359.6(SMAD4):c.147G>C (p.Glu49Asp) rs1555685024
NM_005359.6(SMAD4):c.1480G>T (p.Asp494Tyr)
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.1498A>C (p.Ile500Leu)
NM_005359.6(SMAD4):c.1505G>A (p.Arg502Lys) rs1910520541
NM_005359.6(SMAD4):c.1507A>T (p.Met503Leu) rs1426800709
NM_005359.6(SMAD4):c.1516G>A (p.Val506Met) rs1060500746
NM_005359.6(SMAD4):c.1529G>A (p.Gly510Glu) rs377767371
NM_005359.6(SMAD4):c.1534G>A (p.Asp512Asn) rs1555687578
NM_005359.6(SMAD4):c.1537T>A (p.Tyr513Asn)
NM_005359.6(SMAD4):c.1540_1541delinsTT (p.Pro514Leu) rs1910522327
NM_005359.6(SMAD4):c.1547A>G (p.Gln516Arg) rs786202496
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.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.1564C>A (p.Pro522Thr)
NM_005359.6(SMAD4):c.1565C>T (p.Pro522Leu) rs1910523687
NM_005359.6(SMAD4):c.156T>G (p.Asp52Glu)
NM_005359.6(SMAD4):c.1570T>C (p.Trp524Arg) rs1910523788
NM_005359.6(SMAD4):c.1574T>C (p.Ile525Thr) rs1304558237
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.1585_1590del (p.Leu529_His530del)
NM_005359.6(SMAD4):c.1587A>C (p.Leu529Phe) rs2144479233
NM_005359.6(SMAD4):c.1590C>G (p.His530Gln) 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.1599_1607del (p.Gln534_Leu536del) rs1910525515
NM_005359.6(SMAD4):c.1604_1605delinsAA (p.Leu535Gln) rs1599205540
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.1622A>T (p.His541Leu)
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.1630C>T (p.Pro544Ser)
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.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>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.1651T>G (p.Leu551Val) rs1064793950
NM_005359.6(SMAD4):c.1658G>C (p.Ter553Ser) rs2144479903
NM_005359.6(SMAD4):c.166T>G (p.Ser56Ala)
NM_005359.6(SMAD4):c.16A>G (p.Ile6Val) rs1376500870
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.17T>C (p.Ile6Thr) rs1599181007
NM_005359.6(SMAD4):c.181A>C (p.Ile61Leu) rs1064794204
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.196G>A (p.Ala66Thr) rs1599181207
NM_005359.6(SMAD4):c.1A>G (p.Met1Val) rs1064795777
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.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.23A>G (p.Asn8Ser) rs876658568
NM_005359.6(SMAD4):c.240G>T (p.Gly80=) rs1909572382
NM_005359.6(SMAD4):c.249+6T>A rs1599181264
NM_005359.6(SMAD4):c.250-3T>C rs1555685140
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.267A>T (p.Gly89=) rs1599182401
NM_005359.6(SMAD4):c.26C>T (p.Thr9Ile) rs1555684986
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.29C>T (p.Pro10Leu) rs1909566256
NM_005359.6(SMAD4):c.2T>C (p.Met1Thr)
NM_005359.6(SMAD4):c.323A>G (p.Glu108Gly)
NM_005359.6(SMAD4):c.326_331del (p.Leu109_Lys110del)
NM_005359.6(SMAD4):c.332A>G (p.His111Arg) rs1064794363
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.353C>T (p.Ala118Val) rs2144405775
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.367T>C (p.Cys123Arg) rs1568203472
NM_005359.6(SMAD4):c.371A>G (p.Asp124Gly)
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.394C>T (p.His132Tyr) rs1060500743
NM_005359.6(SMAD4):c.397T>C (p.Tyr133His)
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.401A>G (p.Glu134Gly)
NM_005359.6(SMAD4):c.402A>C (p.Glu134Asp)
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.419G>C (p.Gly140Ala)
NM_005359.6(SMAD4):c.422T>C (p.Ile141Thr) rs1599182596
NM_005359.6(SMAD4):c.424+3A>G rs1909624249
NM_005359.6(SMAD4):c.425-16C>A
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.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.43G>T (p.Ala15Ser)
NM_005359.6(SMAD4):c.445C>A (p.Gln149Lys) rs1599182912
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+3A>G rs2144407745
NM_005359.6(SMAD4):c.454+4G>A rs1909638891
NM_005359.6(SMAD4):c.454G>A (p.Ala152Thr)
NM_005359.6(SMAD4):c.460T>C (p.Ser154Pro)
NM_005359.6(SMAD4):c.460T>G (p.Ser154Ala) rs864622209
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.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.473T>A (p.Val158Glu) rs1909795284
NM_005359.6(SMAD4):c.476A>G (p.Lys159Arg) rs1909795433
NM_005359.6(SMAD4):c.476A>T (p.Lys159Met)
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.484T>C (p.Tyr162His) rs786203155
NM_005359.6(SMAD4):c.485A>G (p.Tyr162Cys)
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.4G>C (p.Asp2His)
NM_005359.6(SMAD4):c.503G>A (p.Gly168Glu) rs1555685631
NM_005359.6(SMAD4):c.508C>T (p.Pro170Ser)
NM_005359.6(SMAD4):c.512C>T (p.Ser171Leu) rs1568205010
NM_005359.6(SMAD4):c.516G>T (p.Leu172Phe) rs1392368498
NM_005359.6(SMAD4):c.517T>G (p.Ser173Ala)
NM_005359.6(SMAD4):c.520A>G (p.Thr174Ala) rs1333974956
NM_005359.6(SMAD4):c.527G>T (p.Gly176Val)
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.535A>T (p.Ile179Phe) rs542392980
NM_005359.6(SMAD4):c.538C>G (p.Gln180Glu) 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.547C>G (p.Gln183Glu) rs1555685645
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.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.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.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.569C>G (p.Ala190Gly)
NM_005359.6(SMAD4):c.572C>G (p.Ser191Trp)
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.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.586A>G (p.Ser196Gly) rs946539148
NM_005359.6(SMAD4):c.589A>T (p.Thr197Ser)
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.604G>A (p.Ala202Thr) rs1909800453
NM_005359.6(SMAD4):c.605C>T (p.Ala202Val) rs2144419222
NM_005359.6(SMAD4):c.607C>G (p.Pro203Ala) rs199809905
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>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.625A>G (p.Thr209Ala) rs1555685670
NM_005359.6(SMAD4):c.626C>T (p.Thr209Ile) rs1909801469
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>G (p.His21Arg) rs1280706054
NM_005359.6(SMAD4):c.631A>G (p.Thr211Ala) rs1909801735
NM_005359.6(SMAD4):c.632C>T (p.Thr211Ile)
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.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.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.664A>G (p.Thr222Ala) rs770461626
NM_005359.6(SMAD4):c.665C>T (p.Thr222Ile)
NM_005359.6(SMAD4):c.667+6T>A
NM_005359.6(SMAD4):c.667A>G (p.Ser223Gly) rs1568205121
NM_005359.6(SMAD4):c.668-3T>C rs1568206021
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.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.686T>G (p.Leu229Arg) rs75667697
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.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.695G>A (p.Ser232Asn) rs1909891695
NM_005359.6(SMAD4):c.697C>A (p.His233Asn) rs552880257
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.703G>A (p.Glu235Lys)
NM_005359.6(SMAD4):c.707G>A (p.Gly236Glu) rs1568206062
NM_005359.6(SMAD4):c.710T>C (p.Leu237Pro)
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.728G>C (p.Gly243Ala) rs2144427170
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.740G>A (p.Gly247Glu) rs1909893398
NM_005359.6(SMAD4):c.742C>G (p.Gln248Glu)
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.750G>C (p.Gln250His) rs1555685922
NM_005359.6(SMAD4):c.752A>G (p.Asn251Ser) rs1555685926
NM_005359.6(SMAD4):c.755G>T (p.Gly252Val) rs878854768
NM_005359.6(SMAD4):c.758T>A (p.Phe253Tyr) rs2144427543
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.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.779A>G (p.Tyr260Cys)
NM_005359.6(SMAD4):c.787+4T>C rs2144427833
NM_005359.6(SMAD4):c.787A>G (p.Asn263Asp) rs1568206105
NM_005359.6(SMAD4):c.788-3T>C rs1555685949
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.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.797C>T (p.Thr266Ile) rs1909899027
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.802T>C (p.Trp268Arg) rs1909899403
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.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.817A>G (p.Thr273Ala) rs1909900343
NM_005359.6(SMAD4):c.821C>T (p.Ala274Val) rs2144428659
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.829A>G (p.Thr277Ala) rs1555685960
NM_005359.6(SMAD4):c.82C>A (p.Gln28Lys) rs2144400785
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.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.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.859C>A (p.His287Asn)
NM_005359.6(SMAD4):c.860A>G (p.His287Arg) rs1568206180
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.883C>A (p.Pro295Thr)
NM_005359.6(SMAD4):c.887C>A (p.Pro296His) rs1417632301
NM_005359.6(SMAD4):c.889C>A (p.His297Asn)
NM_005359.6(SMAD4):c.890A>G (p.His297Arg) rs1060500737
NM_005359.6(SMAD4):c.892C>A (p.Pro298Thr) rs2144429377
NM_005359.6(SMAD4):c.892C>T (p.Pro298Ser)
NM_005359.6(SMAD4):c.895G>A (p.Gly299Arg) rs1330888967
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.904+16_904+17insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCATGCTGTTTTGGTTACTGTAGCCTTGTATGATAGTTTGAAGTCAGGTTGTGTGATTCCTCCAGCTTTGTTCTTTTGGAGTAAGCTCTTGTTTTT rs2144429509
NM_005359.6(SMAD4):c.904+6C>G rs1909906368
NM_005359.6(SMAD4):c.904+6C>T rs1909906368
NM_005359.6(SMAD4):c.904T>A (p.Trp302Arg)
NM_005359.6(SMAD4):c.904T>C (p.Trp302Arg) rs1555685979
NM_005359.6(SMAD4):c.905-3T>G
NM_005359.6(SMAD4):c.905-6C>G rs777595914
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.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.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.922C>G (p.Leu308Val) rs1383128743
NM_005359.6(SMAD4):c.923T>C (p.Leu308Pro) rs1599191222
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.930C>G (p.Phe310Leu) rs876658257
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.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.946A>G (p.Asn316Asp) rs2144433576
NM_005359.6(SMAD4):c.952C>G (p.Pro318Ala) rs1909960667
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.956-17C>G
NM_005359.6(SMAD4):c.959C>G (p.Pro320Arg)
NM_005359.6(SMAD4):c.961G>A (p.Glu321Lys)
NM_005359.6(SMAD4):c.969G>T (p.Trp323Cys) rs772575670
NM_005359.6(SMAD4):c.973T>A (p.Ser325Thr)
NM_005359.6(SMAD4):c.976A>G (p.Ile326Val) rs1402203611
NM_005359.6(SMAD4):c.993G>A (p.Met331Ile) rs1910120904
NM_005359.6(SMAD4):c.997G>A (p.Val333Ile) rs1274926456

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