ClinVar Miner

List of variants reported as uncertain significance for familial bicuspid aortic valve

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 793
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358 0.00223
NM_017617.5(NOTCH1):c.4056C>T (p.Cys1352=) rs200099319 0.00147
NM_005585.5(SMAD6):c.362G>A (p.Cys121Tyr) rs80232004 0.00101
NM_005585.5(SMAD6):c.1184A>G (p.Lys395Arg) rs149949971 0.00065
NM_017617.5(NOTCH1):c.4168C>A (p.Pro1390Thr) rs191645600 0.00061
NM_017617.5(NOTCH1):c.1553C>T (p.Thr518Met) rs377535397 0.00044
NM_005585.5(SMAD6):c.1256C>T (p.Ala419Val) rs145093897 0.00038
NM_017617.5(NOTCH1):c.2495C>T (p.Pro832Leu) rs559917218 0.00034
NM_005585.5(SMAD6):c.761C>A (p.Ala254Asp) rs529866697 0.00030
NM_019055.6(ROBO4):c.691T>A (p.Tyr231Asn) rs149517154 0.00027
NM_017617.5(NOTCH1):c.5189C>T (p.Pro1730Leu) rs375897519 0.00024
NM_005585.5(SMAD6):c.173C>G (p.Ser58Cys) rs756752655 0.00023
NM_005585.5(SMAD6):c.328C>T (p.Pro110Ser) rs773431944 0.00023
NM_017617.5(NOTCH1):c.2263_2265del (p.Asn755del) rs587778559 0.00021
NM_017617.5(NOTCH1):c.7387G>A (p.Ala2463Thr) rs537210445 0.00021
NM_080473.5(GATA5):c.1159C>T (p.Arg387Cys) rs145205240 0.00021
NM_017617.5(NOTCH1):c.383G>A (p.Arg128His) rs754086897 0.00019
NM_019055.6(ROBO4):c.190C>T (p.Arg64Cys) rs201393279 0.00019
NM_005585.5(SMAD6):c.431C>T (p.Pro144Leu) rs574652189 0.00018
NM_017617.5(NOTCH1):c.2218G>A (p.Asp740Asn) rs200816814 0.00018
NM_017617.5(NOTCH1):c.454G>A (p.Gly152Ser) rs750242131 0.00017
NM_017617.5(NOTCH1):c.839A>G (p.Asn280Ser) rs367825691 0.00017
NM_005585.5(SMAD6):c.998G>C (p.Ser333Thr) rs199531653 0.00016
NM_017617.5(NOTCH1):c.2191C>T (p.Arg731Trp) rs199666126 0.00016
NM_005585.5(SMAD6):c.973G>A (p.Ala325Thr) rs199822239 0.00015
NM_017617.5(NOTCH1):c.4988G>A (p.Arg1663Gln) rs749490844 0.00015
NM_005585.5(SMAD6):c.194C>G (p.Pro65Arg) rs990598927 0.00013
NM_017617.5(NOTCH1):c.1699A>G (p.Ile567Val) rs369067940 0.00013
NM_017617.5(NOTCH1):c.19C>T (p.Pro7Ser) rs1397523469 0.00013
NM_017617.5(NOTCH1):c.851C>T (p.Pro284Leu) rs376104770 0.00013
NM_005585.5(SMAD6):c.253C>T (p.Arg85Cys) rs1056072996 0.00012
NM_005585.5(SMAD6):c.482C>T (p.Ala161Val) rs748622672 0.00012
NM_005585.5(SMAD6):c.908C>T (p.Thr303Met) rs146363463 0.00011
NM_005585.5(SMAD6):c.91G>A (p.Gly31Ser) rs770362322 0.00011
NM_017617.5(NOTCH1):c.1837C>T (p.Arg613Cys) rs763988265 0.00011
NM_017617.5(NOTCH1):c.6938G>A (p.Arg2313Gln) rs371069660 0.00011
NM_181486.4(TBX5):c.1151C>T (p.Ala384Val) rs530882236 0.00011
NM_005585.5(SMAD6):c.277A>T (p.Met93Leu) rs781686740 0.00010
NM_005585.5(SMAD6):c.610G>A (p.Gly204Ser) rs746951925 0.00010
NM_017617.5(NOTCH1):c.1295C>T (p.Thr432Met) rs200562991 0.00010
NM_017617.5(NOTCH1):c.2636G>A (p.Arg879Gln) rs368011392 0.00010
NM_017617.5(NOTCH1):c.4372G>A (p.Ala1458Thr) rs200495793 0.00010
NM_017617.5(NOTCH1):c.4537G>A (p.Gly1513Ser) rs765844768 0.00010
NM_017617.5(NOTCH1):c.5414T>C (p.Leu1805Pro) rs201779159 0.00010
NM_017617.5(NOTCH1):c.6788G>A (p.Arg2263Gln) rs200521815 0.00010
NM_019055.6(ROBO4):c.1471C>T (p.Arg491Cys) rs374471211 0.00010
NM_017617.5(NOTCH1):c.3334G>A (p.Val1112Ile) rs370696201 0.00009
NM_017617.5(NOTCH1):c.4157C>T (p.Pro1386Leu) rs367710569 0.00009
NM_017617.5(NOTCH1):c.4652G>T (p.Ser1551Ile) rs774068657 0.00009
NM_017617.5(NOTCH1):c.527G>A (p.Arg176Gln) rs375065108 0.00009
NM_005585.5(SMAD6):c.1297G>A (p.Gly433Ser) rs373836386 0.00008
NM_005585.5(SMAD6):c.939G>A (p.Pro313=) rs144403747 0.00008
NM_017617.5(NOTCH1):c.4313G>A (p.Arg1438His) rs61751541 0.00008
NM_017617.5(NOTCH1):c.4373C>T (p.Ala1458Val) rs374352922 0.00008
NM_017617.5(NOTCH1):c.7313C>T (p.Pro2438Leu) rs199777870 0.00008
NM_005585.5(SMAD6):c.439G>A (p.Gly147Arg) rs867644316 0.00007
NM_005585.5(SMAD6):c.856G>A (p.Asp286Asn) rs759918873 0.00007
NM_017617.5(NOTCH1):c.1682C>T (p.Thr561Met) rs560030759 0.00007
NM_017617.5(NOTCH1):c.3853G>A (p.Val1285Met) rs756972680 0.00007
NM_017617.5(NOTCH1):c.4307C>T (p.Ala1436Val) rs371303106 0.00007
NM_017617.5(NOTCH1):c.4795G>A (p.Val1599Met) rs543770603 0.00007
NM_017617.5(NOTCH1):c.6283C>T (p.Arg2095Cys) rs780873661 0.00007
NM_017617.5(NOTCH1):c.6583G>A (p.Gly2195Ser) rs376422513 0.00007
NM_017617.5(NOTCH1):c.7397C>T (p.Thr2466Met) rs369167555 0.00007
NM_181486.4(TBX5):c.1162G>A (p.Glu388Lys) rs139371720 0.00007
NM_005585.5(SMAD6):c.158G>A (p.Gly53Glu) rs955270050 0.00006
NM_005585.5(SMAD6):c.278T>C (p.Met93Thr) rs985309653 0.00006
NM_017617.5(NOTCH1):c.1510C>T (p.Arg504Cys) rs752071569 0.00006
NM_017617.5(NOTCH1):c.3001G>A (p.Gly1001Ser) rs763621169 0.00006
NM_017617.5(NOTCH1):c.3271G>A (p.Gly1091Ser) rs768095251 0.00006
NM_017617.5(NOTCH1):c.3338C>T (p.Ala1113Val) rs377351349 0.00006
NM_017617.5(NOTCH1):c.3788G>A (p.Arg1263His) rs377594681 0.00006
NM_017617.5(NOTCH1):c.448G>A (p.Ala150Thr) rs372660483 0.00006
NM_017617.5(NOTCH1):c.4718C>T (p.Thr1573Met) rs573864607 0.00006
NM_017617.5(NOTCH1):c.5776C>T (p.Arg1926Cys) rs199652954 0.00006
NM_017617.5(NOTCH1):c.7130C>T (p.Pro2377Leu) rs761839390 0.00006
NM_017617.5(NOTCH1):c.7363A>G (p.Thr2455Ala) rs536167222 0.00006
NM_181486.4(TBX5):c.1396G>A (p.Val466Met) rs765443283 0.00006
NM_005585.5(SMAD6):c.854G>A (p.Arg285His) rs201098141 0.00005
NM_017617.5(NOTCH1):c.1664C>T (p.Thr555Met) rs746796894 0.00005
NM_017617.5(NOTCH1):c.1774C>T (p.Arg592Cys) rs1472690723 0.00005
NM_017617.5(NOTCH1):c.2521G>A (p.Gly841Ser) rs369259434 0.00005
NM_017617.5(NOTCH1):c.2783C>T (p.Thr928Met) rs764921648 0.00005
NM_017617.5(NOTCH1):c.2908A>G (p.Thr970Ala) rs201053795 0.00005
NM_017617.5(NOTCH1):c.3553G>A (p.Asp1185Asn) rs548083258 0.00005
NM_017617.5(NOTCH1):c.4238G>A (p.Arg1413His) rs371068504 0.00005
NM_017617.5(NOTCH1):c.4492A>G (p.Lys1498Glu) rs745681787 0.00005
NM_017617.5(NOTCH1):c.4793G>A (p.Arg1598His) rs755124691 0.00005
NM_017617.5(NOTCH1):c.5248G>A (p.Val1750Met) rs368396893 0.00005
NM_017617.5(NOTCH1):c.6205G>A (p.Ala2069Thr) rs567909904 0.00005
NM_017617.5(NOTCH1):c.7016C>A (p.Ala2339Asp) rs773134608 0.00005
NM_181486.4(TBX5):c.1273C>A (p.His425Asn) rs755152246 0.00005
NM_181486.4(TBX5):c.848C>A (p.Thr283Asn) rs147077037 0.00005
NM_002474.3(MYH11):c.3560C>T (p.Thr1187Met) rs552818350 0.00004
NM_005585.5(SMAD6):c.1276G>A (p.Val426Ile) rs376580255 0.00004
NM_005585.5(SMAD6):c.316G>A (p.Asp106Asn) rs981951560 0.00004
NM_005585.5(SMAD6):c.35G>A (p.Arg12Gln) rs946785791 0.00004
NM_005585.5(SMAD6):c.715G>A (p.Val239Met) rs768794005 0.00004
NM_005585.5(SMAD6):c.776T>C (p.Val259Ala) rs1049275389 0.00004
NM_005585.5(SMAD6):c.853C>T (p.Arg285Cys) rs749741980 0.00004
NM_005585.5(SMAD6):c.859G>A (p.Glu287Lys) rs570279865 0.00004
NM_005585.5(SMAD6):c.938C>T (p.Pro313Leu) rs748388661 0.00004
NM_017617.5(NOTCH1):c.2002C>G (p.Pro668Ala) rs780810308 0.00004
NM_017617.5(NOTCH1):c.2576C>T (p.Thr859Met) rs199505287 0.00004
NM_017617.5(NOTCH1):c.2728G>A (p.Asp910Asn) rs765293859 0.00004
NM_017617.5(NOTCH1):c.3121G>A (p.Gly1041Ser) rs375260339 0.00004
NM_017617.5(NOTCH1):c.3374C>T (p.Ala1125Val) rs200871631 0.00004
NM_017617.5(NOTCH1):c.3905G>A (p.Arg1302His) rs762091081 0.00004
NM_017617.5(NOTCH1):c.3980A>G (p.Asn1327Ser) rs751874720 0.00004
NM_017617.5(NOTCH1):c.5017G>A (p.Gly1673Ser) rs1226514285 0.00004
NM_017617.5(NOTCH1):c.5416A>G (p.Met1806Val) rs114479009 0.00004
NM_017617.5(NOTCH1):c.5542C>A (p.Leu1848Met) rs35652719 0.00004
NM_017617.5(NOTCH1):c.6383C>T (p.Pro2128Leu) rs770713134 0.00004
NM_017617.5(NOTCH1):c.6521A>G (p.Lys2174Arg) rs761602495 0.00004
NM_017617.5(NOTCH1):c.6577A>G (p.Ser2193Gly) rs1060502236 0.00004
NM_017617.5(NOTCH1):c.7498C>G (p.His2500Asp) rs763902589 0.00004
NM_019055.6(ROBO4):c.1702C>T (p.Arg568Ter) rs201492213 0.00004
NM_181486.4(TBX5):c.1064G>A (p.Arg355His) rs145784562 0.00004
NM_005585.5(SMAD6):c.1000G>C (p.Val334Leu) rs772926628 0.00003
NM_005585.5(SMAD6):c.134C>G (p.Pro45Arg) rs1027280912 0.00003
NM_005585.5(SMAD6):c.698C>T (p.Pro233Leu) rs764453720 0.00003
NM_005585.5(SMAD6):c.814C>T (p.Pro272Ser) rs781458675 0.00003
NM_014462.3(LSM1):c.231+4A>C rs775468919 0.00003
NM_017617.5(NOTCH1):c.1262A>G (p.Asn421Ser) rs928512979 0.00003
NM_017617.5(NOTCH1):c.1543G>C (p.Glu515Gln) rs749085650 0.00003
NM_017617.5(NOTCH1):c.1747G>A (p.Gly583Ser) rs757066417 0.00003
NM_017617.5(NOTCH1):c.2003C>T (p.Pro668Leu) rs576030298 0.00003
NM_017617.5(NOTCH1):c.2458C>T (p.Pro820Ser) rs1379596542 0.00003
NM_017617.5(NOTCH1):c.3341G>A (p.Arg1114His) rs777684045 0.00003
NM_017617.5(NOTCH1):c.3510+3G>A rs372739350 0.00003
NM_017617.5(NOTCH1):c.3664G>A (p.Val1222Met) rs112900950 0.00003
NM_017617.5(NOTCH1):c.4013C>T (p.Ala1338Val) rs1397249771 0.00003
NM_017617.5(NOTCH1):c.4078G>A (p.Gly1360Ser) rs769493139 0.00003
NM_017617.5(NOTCH1):c.4315G>A (p.Asp1439Asn) rs200232299 0.00003
NM_017617.5(NOTCH1):c.500C>T (p.Pro167Leu) rs370951369 0.00003
NM_017617.5(NOTCH1):c.5014C>T (p.Arg1672Cys) rs745901158 0.00003
NM_017617.5(NOTCH1):c.5422G>A (p.Asp1808Asn) rs571739078 0.00003
NM_017617.5(NOTCH1):c.6130G>A (p.Ala2044Thr) rs544856644 0.00003
NM_017617.5(NOTCH1):c.6481C>T (p.Pro2161Ser) rs201518848 0.00003
NM_017617.5(NOTCH1):c.7115G>A (p.Arg2372Gln) rs373119531 0.00003
NM_017617.5(NOTCH1):c.7279G>A (p.Gly2427Ser) rs370722609 0.00003
NM_017617.5(NOTCH1):c.7541_7542del (p.Pro2514fs) rs763016003 0.00003
NM_030777.4(SLC2A10):c.929C>T (p.Ser310Phe) rs763521707 0.00003
NM_181486.4(TBX5):c.293C>T (p.Thr98Met) rs772844823 0.00003
NM_181486.4(TBX5):c.895G>A (p.Gly299Ser) rs201637366 0.00003
NM_005585.5(SMAD6):c.106G>A (p.Asp36Asn) rs773308777 0.00002
NM_005585.5(SMAD6):c.1348C>T (p.Pro450Ser) rs369864879 0.00002
NM_005585.5(SMAD6):c.1445C>G (p.Thr482Ser) rs1239470869 0.00002
NM_005585.5(SMAD6):c.1489T>C (p.Ter497Gln) rs932383465 0.00002
NM_005585.5(SMAD6):c.235G>T (p.Gly79Cys) rs1318237027 0.00002
NM_005585.5(SMAD6):c.245G>A (p.Arg82Lys) rs1433506461 0.00002
NM_005585.5(SMAD6):c.257C>T (p.Ala86Val) rs1235267213 0.00002
NM_005585.5(SMAD6):c.80G>A (p.Ser27Asn) rs1448725205 0.00002
NM_005585.5(SMAD6):c.833C>T (p.Pro278Leu) rs372082813 0.00002
NM_005585.5(SMAD6):c.967C>T (p.Pro323Ser) rs1292983568 0.00002
NM_006849.4(PDIA2):c.383G>A (p.Arg128His) rs373590123 0.00002
NM_017617.5(NOTCH1):c.1250C>T (p.Ser417Leu) rs757631575 0.00002
NM_017617.5(NOTCH1):c.1256-15G>A rs200086842 0.00002
NM_017617.5(NOTCH1):c.1357G>A (p.Val453Ile) rs761629787 0.00002
NM_017617.5(NOTCH1):c.2068G>A (p.Gly690Arg) rs764112977 0.00002
NM_017617.5(NOTCH1):c.2297G>T (p.Gly766Val) rs374434131 0.00002
NM_017617.5(NOTCH1):c.2917G>A (p.Ala973Thr) rs200699541 0.00002
NM_017617.5(NOTCH1):c.2937C>T (p.His979=) rs1406216361 0.00002
NM_017617.5(NOTCH1):c.3701G>A (p.Arg1234Gln) rs773926521 0.00002
NM_017617.5(NOTCH1):c.4348G>A (p.Glu1450Lys) rs147841035 0.00002
NM_017617.5(NOTCH1):c.5023A>G (p.Ile1675Val) rs375408767 0.00002
NM_017617.5(NOTCH1):c.5069C>T (p.Ser1690Leu) rs552065719 0.00002
NM_017617.5(NOTCH1):c.5398G>A (p.Ala1800Thr) rs569203312 0.00002
NM_017617.5(NOTCH1):c.6749C>T (p.Ala2250Val) rs777809068 0.00002
NM_017617.5(NOTCH1):c.6814C>T (p.Arg2272Cys) rs752505638 0.00002
NM_017617.5(NOTCH1):c.6979C>T (p.Arg2327Trp) rs751007903 0.00002
NM_017617.5(NOTCH1):c.7372C>A (p.Pro2458Thr) rs752802795 0.00002
NM_017617.5(NOTCH1):c.775G>A (p.Asp259Asn) rs763187824 0.00002
NM_017617.5(NOTCH1):c.823G>A (p.Gly275Ser) rs371333249 0.00002
NM_181486.4(TBX5):c.965A>G (p.His322Arg) rs759009256 0.00002
NM_001077653.2(TBX20):c.533C>T (p.Pro178Leu) rs760169368 0.00001
NM_005585.5(SMAD6):c.1006T>C (p.Tyr336His) rs1894552779 0.00001
NM_005585.5(SMAD6):c.1022C>T (p.Thr341Met) rs151259317 0.00001
NM_005585.5(SMAD6):c.1057G>A (p.Ala353Thr) rs1315294969 0.00001
NM_005585.5(SMAD6):c.1224C>G (p.His408Gln) rs1381118550 0.00001
NM_005585.5(SMAD6):c.1225C>T (p.Pro409Ser) rs757027884 0.00001
NM_005585.5(SMAD6):c.1271C>T (p.Ala424Val) rs371348775 0.00001
NM_005585.5(SMAD6):c.1294C>G (p.Pro432Ala) rs758115595 0.00001
NM_005585.5(SMAD6):c.1346C>T (p.Ala449Val) rs1186486223 0.00001
NM_005585.5(SMAD6):c.1377C>G (p.Tyr459Ter) rs1290060451 0.00001
NM_005585.5(SMAD6):c.1393C>T (p.Arg465Cys) rs761888345 0.00001
NM_005585.5(SMAD6):c.202C>T (p.Pro68Ser) rs1235974469 0.00001
NM_005585.5(SMAD6):c.279G>A (p.Met93Ile) rs1595756752 0.00001
NM_005585.5(SMAD6):c.286C>T (p.Pro96Ser) rs1299231742 0.00001
NM_005585.5(SMAD6):c.299C>T (p.Ala100Val) rs1893029511 0.00001
NM_005585.5(SMAD6):c.34C>T (p.Arg12Ter) rs1241989233 0.00001
NM_005585.5(SMAD6):c.374C>T (p.Thr125Ile) rs759468399 0.00001
NM_005585.5(SMAD6):c.388T>C (p.Ser130Pro) rs1893032616 0.00001
NM_005585.5(SMAD6):c.434T>C (p.Leu145Pro) rs1011931265 0.00001
NM_005585.5(SMAD6):c.469C>T (p.Arg157Trp) rs1239750015 0.00001
NM_005585.5(SMAD6):c.472A>G (p.Ser158Gly) rs1327929414 0.00001
NM_005585.5(SMAD6):c.484C>T (p.Arg162Cys) rs1337307419 0.00001
NM_005585.5(SMAD6):c.53T>G (p.Val18Gly) rs1221430921 0.00001
NM_005585.5(SMAD6):c.598G>A (p.Gly200Ser) rs1039327779 0.00001
NM_005585.5(SMAD6):c.667C>T (p.Gln223Ter) rs1064793003 0.00001
NM_005585.5(SMAD6):c.696G>A (p.Trp232Ter) rs759094719 0.00001
NM_005585.5(SMAD6):c.728C>T (p.Pro243Leu) rs946670694 0.00001
NM_005585.5(SMAD6):c.731T>C (p.Leu244Pro) rs1457962668 0.00001
NM_005585.5(SMAD6):c.82G>A (p.Gly28Ser) rs868114319 0.00001
NM_005585.5(SMAD6):c.851C>T (p.Pro284Leu) rs150101601 0.00001
NM_005585.5(SMAD6):c.872T>C (p.Leu291Pro) rs768096418 0.00001
NM_005585.5(SMAD6):c.883G>A (p.Asp295Asn) rs773338089 0.00001
NM_005585.5(SMAD6):c.8G>A (p.Arg3Lys) rs1337502697 0.00001
NM_005585.5(SMAD6):c.921C>A (p.Asn307Lys) rs191287350 0.00001
NM_017617.5(NOTCH1):c.1000G>A (p.Glu334Lys) rs779061035 0.00001
NM_017617.5(NOTCH1):c.1094G>A (p.Arg365His) rs775991013 0.00001
NM_017617.5(NOTCH1):c.1205C>T (p.Ser402Leu) rs1037236860 0.00001
NM_017617.5(NOTCH1):c.1220C>T (p.Pro407Leu) rs754529382 0.00001
NM_017617.5(NOTCH1):c.1237G>A (p.Val413Met) rs373770404 0.00001
NM_017617.5(NOTCH1):c.157G>A (p.Val53Met) rs757497167 0.00001
NM_017617.5(NOTCH1):c.1582G>A (p.Asp528Asn) rs757988142 0.00001
NM_017617.5(NOTCH1):c.1676C>T (p.Thr559Met) rs376055493 0.00001
NM_017617.5(NOTCH1):c.1750G>A (p.Val584Ile) rs763886355 0.00001
NM_017617.5(NOTCH1):c.1760T>A (p.Phe587Tyr) rs771440130 0.00001
NM_017617.5(NOTCH1):c.1775G>A (p.Arg592His) rs544117297 0.00001
NM_017617.5(NOTCH1):c.1778C>T (p.Pro593Leu) rs886039014 0.00001
NM_017617.5(NOTCH1):c.1924C>G (p.Leu642Val) rs755740633 0.00001
NM_017617.5(NOTCH1):c.1972A>G (p.Lys658Glu) rs1260932753 0.00001
NM_017617.5(NOTCH1):c.2021T>C (p.Met674Thr) rs587782970 0.00001
NM_017617.5(NOTCH1):c.2074A>G (p.Thr692Ala) rs1385815860 0.00001
NM_017617.5(NOTCH1):c.2128G>A (p.Asp710Asn) rs950236535 0.00001
NM_017617.5(NOTCH1):c.2207+5G>A rs1214619547 0.00001
NM_017617.5(NOTCH1):c.244G>A (p.Val82Met) rs571831870 0.00001
NM_017617.5(NOTCH1):c.2510C>G (p.Pro837Arg) rs777663026 0.00001
NM_017617.5(NOTCH1):c.2605G>A (p.Asp869Asn) rs1420968156 0.00001
NM_017617.5(NOTCH1):c.2644G>A (p.Ala882Thr) rs767886377 0.00001
NM_017617.5(NOTCH1):c.2753A>G (p.Asn918Ser) rs367586502 0.00001
NM_017617.5(NOTCH1):c.2882C>T (p.Thr961Met) rs377343669 0.00001
NM_017617.5(NOTCH1):c.3095A>G (p.His1032Arg) rs1397562033 0.00001
NM_017617.5(NOTCH1):c.3211G>A (p.Gly1071Ser) rs587778566 0.00001
NM_017617.5(NOTCH1):c.3350A>G (p.Gln1117Arg) rs764816819 0.00001
NM_017617.5(NOTCH1):c.3404C>T (p.Ala1135Val) rs370300490 0.00001
NM_017617.5(NOTCH1):c.3482C>T (p.Thr1161Met) rs769903954 0.00001
NM_017617.5(NOTCH1):c.3569A>G (p.His1190Arg) rs775438678 0.00001
NM_017617.5(NOTCH1):c.3632G>A (p.Arg1211Gln) rs756362905 0.00001
NM_017617.5(NOTCH1):c.3694G>A (p.Val1232Met) rs750169914 0.00001
NM_017617.5(NOTCH1):c.3908G>A (p.Arg1303His) rs768775024 0.00001
NM_017617.5(NOTCH1):c.3954T>A (p.Asn1318Lys) rs754634957 0.00001
NM_017617.5(NOTCH1):c.3988C>T (p.Arg1330Cys) rs1249540119 0.00001
NM_017617.5(NOTCH1):c.3991G>A (p.Gly1331Arg) rs769908800 0.00001
NM_017617.5(NOTCH1):c.4010C>G (p.Pro1337Arg) rs1043832212 0.00001
NM_017617.5(NOTCH1):c.4024G>A (p.Gly1342Ser) rs748933222 0.00001
NM_017617.5(NOTCH1):c.4066C>T (p.Arg1356Cys) rs587778567 0.00001
NM_017617.5(NOTCH1):c.4309G>A (p.Gly1437Arg) rs780500109 0.00001
NM_017617.5(NOTCH1):c.4451A>G (p.Asn1484Ser) rs759828439 0.00001
NM_017617.5(NOTCH1):c.4472C>T (p.Thr1491Met) rs369915496 0.00001
NM_017617.5(NOTCH1):c.452A>G (p.Asn151Ser) rs766362765 0.00001
NM_017617.5(NOTCH1):c.4568G>A (p.Arg1523His) rs367589813 0.00001
NM_017617.5(NOTCH1):c.4571C>T (p.Ala1524Val) rs774374213 0.00001
NM_017617.5(NOTCH1):c.4588C>T (p.Pro1530Ser) rs750808945 0.00001
NM_017617.5(NOTCH1):c.4655C>T (p.Ala1552Val) rs748862853 0.00001
NM_017617.5(NOTCH1):c.4717A>G (p.Thr1573Ala) rs762492041 0.00001
NM_017617.5(NOTCH1):c.4742C>T (p.Pro1581Leu) rs746431035 0.00001
NM_017617.5(NOTCH1):c.4865G>A (p.Arg1622His) rs778271353 0.00001
NM_017617.5(NOTCH1):c.4880G>A (p.Arg1627His) rs946083212 0.00001
NM_017617.5(NOTCH1):c.4952C>T (p.Ser1651Leu) rs1243453790 0.00001
NM_017617.5(NOTCH1):c.5092G>A (p.Asp1698Asn) rs1417478070 0.00001
NM_017617.5(NOTCH1):c.5284C>T (p.Arg1762Trp) rs1356199208 0.00001
NM_017617.5(NOTCH1):c.5413C>T (p.Leu1805Phe) rs775497405 0.00001
NM_017617.5(NOTCH1):c.5452C>G (p.Leu1818Val) rs1064796983 0.00001
NM_017617.5(NOTCH1):c.5492T>C (p.Leu1831Pro) rs1085307869 0.00001
NM_017617.5(NOTCH1):c.5495C>G (p.Pro1832Arg) rs1425070721 0.00001
NM_017617.5(NOTCH1):c.5560C>T (p.Arg1854Cys) rs376689092 0.00001
NM_017617.5(NOTCH1):c.5572A>C (p.Met1858Leu) rs779337715 0.00001
NM_017617.5(NOTCH1):c.559G>A (p.Gly187Arg) rs750295442 0.00001
NM_017617.5(NOTCH1):c.5674G>A (p.Gly1892Arg) rs761427888 0.00001
NM_017617.5(NOTCH1):c.5690C>T (p.Thr1897Met) rs746237272 0.00001
NM_017617.5(NOTCH1):c.5784C>T (p.Gly1928=) rs773571672 0.00001
NM_017617.5(NOTCH1):c.581C>T (p.Thr194Ile) rs760005580 0.00001
NM_017617.5(NOTCH1):c.5972G>A (p.Arg1991His) rs1371022203 0.00001
NM_017617.5(NOTCH1):c.5981A>G (p.Asp1994Gly) rs1454512890 0.00001
NM_017617.5(NOTCH1):c.6058G>A (p.Asp2020Asn) rs752928106 0.00001
NM_017617.5(NOTCH1):c.6260G>A (p.Arg2087Gln) rs768543030 0.00001
NM_017617.5(NOTCH1):c.632C>G (p.Thr211Ser) rs1401319182 0.00001
NM_017617.5(NOTCH1):c.6422C>T (p.Ser2141Leu) rs767822693 0.00001
NM_017617.5(NOTCH1):c.6593C>T (p.Ser2198Leu) rs761562076 0.00001
NM_017617.5(NOTCH1):c.6743A>C (p.Asn2248Thr) rs1554826464 0.00001
NM_017617.5(NOTCH1):c.6745G>A (p.Val2249Met) rs369457922 0.00001
NM_017617.5(NOTCH1):c.674C>G (p.Ser225Trp) rs553542677 0.00001
NM_017617.5(NOTCH1):c.6781G>T (p.Gly2261Cys) rs768817065 0.00001
NM_017617.5(NOTCH1):c.6895G>A (p.Gly2299Ser) rs1020747496 0.00001
NM_017617.5(NOTCH1):c.7033G>A (p.Gly2345Ser) rs1325758824 0.00001
NM_017617.5(NOTCH1):c.707C>T (p.Thr236Met) rs537766290 0.00001
NM_017617.5(NOTCH1):c.7128G>T (p.Gln2376His) rs369935287 0.00001
NM_017617.5(NOTCH1):c.7138G>A (p.Val2380Met) rs769693988 0.00001
NM_017617.5(NOTCH1):c.7150C>G (p.Gln2384Glu) rs375119074 0.00001
NM_017617.5(NOTCH1):c.7157A>G (p.Gln2386Arg) rs746658493 0.00001
NM_017617.5(NOTCH1):c.7291C>T (p.Arg2431Trp) rs758410389 0.00001
NM_017617.5(NOTCH1):c.751G>A (p.Gly251Ser) rs755667439 0.00001
NM_017617.5(NOTCH1):c.7545G>T (p.Glu2515Asp) rs1365732147 0.00001
NM_017617.5(NOTCH1):c.7568C>T (p.Ser2523Leu) rs1554826328 0.00001
NM_017617.5(NOTCH1):c.7642G>A (p.Ala2548Thr) rs761156723 0.00001
NM_017617.5(NOTCH1):c.826G>A (p.Val276Met) rs369721921 0.00001
NM_017617.5(NOTCH1):c.949G>A (p.Gly317Ser) rs749696049 0.00001
NM_181486.4(TBX5):c.1084C>G (p.Gln362Glu) rs765204502 0.00001
NM_181486.4(TBX5):c.1124G>A (p.Arg375Gln) rs1486871388 0.00001
NM_181486.4(TBX5):c.1199C>T (p.Thr400Met) rs759766836 0.00001
NM_181486.4(TBX5):c.1208G>A (p.Ser403Asn) rs773568096 0.00001
NM_181486.4(TBX5):c.1322G>A (p.Gly441Asp) rs1203543672 0.00001
NM_181486.4(TBX5):c.1343C>T (p.Pro448Leu) rs772790458 0.00001
NM_181486.4(TBX5):c.1348C>G (p.Leu450Val) rs1243477560 0.00001
NM_181486.4(TBX5):c.322C>T (p.Pro108Ser) rs376621016 0.00001
NM_181486.4(TBX5):c.54C>A (p.Asp18Glu) rs1479545982 0.00001
NM_181486.4(TBX5):c.781A>T (p.Ser261Cys) rs377625550 0.00001
NM_181486.4(TBX5):c.902C>G (p.Ser301Cys) rs973621936 0.00001
NM_181486.4(TBX5):c.950A>G (p.His317Arg) rs1869524074 0.00001
GRCh37/hg19 13q22.1(chr13:74152544-74283131)
GRCh37/hg19 16p13.11-12.3(chr16:16633361-16688008)
GRCh37/hg19 19p12(chr19:20834979-20987550)
GRCh37/hg19 19p13.2(chr19:8213468-8227432)
GRCh37/hg19 1q42.13(chr1:228297613-228703236)
GRCh37/hg19 22q11.21(chr22:18844632-19008108)
GRCh37/hg19 7p14.3-14.2(chr7:34920075-35212065)
NC_000012.11:g.(?_114793337)_(114793931_?)dup
NC_000012.11:g.(?_114793337)_(115121005_?)dup
NC_000012.11:g.(?_114823261)_(114841703_?)dup
NC_000015.10:g.(?_66703239)_(67066380_?)del
NM_000093.5(COL5A1):c.514G>T (p.Val172Phe) rs150147262
NM_001077653.2(TBX20):c.117C>G (p.Ile39Met) rs1562569196
NM_001077653.2(TBX20):c.374C>A (p.Ser125Ter) rs766692577
NM_001077653.2(TBX20):c.527A>C (p.Asp176Ala) rs201782046
NM_005585.5(SMAD6):c.1009T>A (p.Trp337Arg)
NM_005585.5(SMAD6):c.1014G>C (p.Glu338Asp) rs2140681200
NM_005585.5(SMAD6):c.1014G>T (p.Glu338Asp)
NM_005585.5(SMAD6):c.1016A>T (p.His339Leu)
NM_005585.5(SMAD6):c.1021A>G (p.Thr341Ala)
NM_005585.5(SMAD6):c.1025G>A (p.Arg342His)
NM_005585.5(SMAD6):c.1031G>T (p.Gly344Val) rs2140681275
NM_005585.5(SMAD6):c.1040del (p.Tyr347fs) rs1894554603
NM_005585.5(SMAD6):c.1041_1042del (p.Ala348fs) rs1894554671
NM_005585.5(SMAD6):c.1041_1044del (p.Leu346_Tyr347insTer)
NM_005585.5(SMAD6):c.104A>G (p.Glu35Gly)
NM_005585.5(SMAD6):c.1050C>G (p.Tyr350Ter) rs200493039
NM_005585.5(SMAD6):c.1051dup (p.Asp351fs)
NM_005585.5(SMAD6):c.1054C>A (p.Gln352Lys)
NM_005585.5(SMAD6):c.1055_1056insAT (p.Ala353fs) rs2140681355
NM_005585.5(SMAD6):c.1066A>G (p.Ile356Val)
NM_005585.5(SMAD6):c.106G>T (p.Asp36Tyr) rs773308777
NM_005585.5(SMAD6):c.1075G>C (p.Asp359His) rs1595804836
NM_005585.5(SMAD6):c.1078C>G (p.Leu360Val)
NM_005585.5(SMAD6):c.107A>C (p.Asp36Ala)
NM_005585.5(SMAD6):c.107A>G (p.Asp36Gly) rs763029325
NM_005585.5(SMAD6):c.107_128dup (p.Glu44fs)
NM_005585.5(SMAD6):c.1090del (p.Ser364fs) rs2140681457
NM_005585.5(SMAD6):c.1093G>T (p.Gly365Cys) rs1176080464
NM_005585.5(SMAD6):c.1102C>G (p.Leu368Val) rs1555440081
NM_005585.5(SMAD6):c.1103T>C (p.Leu368Pro)
NM_005585.5(SMAD6):c.1105G>A (p.Gly369Ser) rs1294873185
NM_005585.5(SMAD6):c.1118T>C (p.Leu373Pro) rs947145210
NM_005585.5(SMAD6):c.1127G>A (p.Arg376His)
NM_005585.5(SMAD6):c.1132G>A (p.Glu378Lys)
NM_005585.5(SMAD6):c.1141C>G (p.Arg381Gly)
NM_005585.5(SMAD6):c.1144C>T (p.Arg382Ter)
NM_005585.5(SMAD6):c.114C>G (p.Ser38Arg)
NM_005585.5(SMAD6):c.1154G>A (p.Ser385Asn) rs1555440093
NM_005585.5(SMAD6):c.1157A>G (p.Lys386Arg)
NM_005585.5(SMAD6):c.1158G>T (p.Lys386Asn)
NM_005585.5(SMAD6):c.1169G>T (p.Gly390Val)
NM_005585.5(SMAD6):c.1172T>A (p.Ile391Asn)
NM_005585.5(SMAD6):c.1175T>C (p.Leu392Pro) rs1265396527
NM_005585.5(SMAD6):c.1178T>C (p.Leu393Pro)
NM_005585.5(SMAD6):c.1182C>G (p.Ser394Arg) rs2140681716
NM_005585.5(SMAD6):c.1183A>T (p.Lys395Ter)
NM_005585.5(SMAD6):c.1195G>T (p.Gly399Cys)
NM_005585.5(SMAD6):c.1198G>C (p.Val400Leu)
NM_005585.5(SMAD6):c.1198G>T (p.Val400Leu)
NM_005585.5(SMAD6):c.1199T>A (p.Val400Glu) rs2140681753
NM_005585.5(SMAD6):c.1200_1391del (p.Trp401_Val464del)
NM_005585.5(SMAD6):c.1210A>G (p.Asn404Asp)
NM_005585.5(SMAD6):c.1211A>G (p.Asn404Ser)
NM_005585.5(SMAD6):c.1216G>A (p.Gly406Ser)
NM_005585.5(SMAD6):c.1216G>T (p.Gly406Cys) rs539298543
NM_005585.5(SMAD6):c.1244C>T (p.Pro415Leu) rs387907284
NM_005585.5(SMAD6):c.124C>T (p.Arg42Ter) rs1447391811
NM_005585.5(SMAD6):c.1255G>A (p.Ala419Thr) rs900897541
NM_005585.5(SMAD6):c.125G>A (p.Arg42Gln) rs1270837180
NM_005585.5(SMAD6):c.1261G>A (p.Gly421Ser)
NM_005585.5(SMAD6):c.1273dup (p.Leu425fs) rs2140682011
NM_005585.5(SMAD6):c.1278C>A (p.Val426=) rs1375981080
NM_005585.5(SMAD6):c.1279G>T (p.Val427Leu)
NM_005585.5(SMAD6):c.127G>C (p.Ala43Pro)
NM_005585.5(SMAD6):c.1294C>T (p.Pro432Ser)
NM_005585.5(SMAD6):c.1295C>A (p.Pro432His)
NM_005585.5(SMAD6):c.1296dup (p.Gly433fs) rs751440011
NM_005585.5(SMAD6):c.1300T>C (p.Tyr434His)
NM_005585.5(SMAD6):c.1305_1306del (p.Ile436fs)
NM_005585.5(SMAD6):c.1321T>C (p.Phe441Leu) rs993487814
NM_005585.5(SMAD6):c.1323dup (p.Glu442fs) rs1894568566
NM_005585.5(SMAD6):c.1324G>A (p.Glu442Lys) rs778302338
NM_005585.5(SMAD6):c.1324G>C (p.Glu442Gln)
NM_005585.5(SMAD6):c.1324del (p.Glu442fs)
NM_005585.5(SMAD6):c.1328G>C (p.Arg443Pro) rs554980660
NM_005585.5(SMAD6):c.1347_1348del (p.Pro450fs)
NM_005585.5(SMAD6):c.1348C>A (p.Pro450Thr) rs369864879
NM_005585.5(SMAD6):c.1360G>A (p.Ala454Thr) rs754474911
NM_005585.5(SMAD6):c.1360G>C (p.Ala454Pro)
NM_005585.5(SMAD6):c.1363G>A (p.Ala455Thr)
NM_005585.5(SMAD6):c.1373C>G (p.Pro458Arg) rs746188996
NM_005585.5(SMAD6):c.1375T>A (p.Tyr459Asn)
NM_005585.5(SMAD6):c.1378del (p.Asp460fs)
NM_005585.5(SMAD6):c.137C>T (p.Ala46Val) rs2140580758
NM_005585.5(SMAD6):c.1383dup (p.Asn462fs)
NM_005585.5(SMAD6):c.1391T>C (p.Val464Ala)
NM_005585.5(SMAD6):c.1395_1404del (p.Ile466fs) rs2140682369
NM_005585.5(SMAD6):c.1396A>C (p.Ile466Leu)
NM_005585.5(SMAD6):c.1403T>C (p.Phe468Ser) rs1182669434
NM_005585.5(SMAD6):c.1405G>C (p.Ala469Pro) rs1416212959
NM_005585.5(SMAD6):c.1408A>C (p.Lys470Gln)
NM_005585.5(SMAD6):c.140C>T (p.Pro47Leu)
NM_005585.5(SMAD6):c.1412_1413delinsT (p.Gly471fs) rs1567116253
NM_005585.5(SMAD6):c.1417G>C (p.Gly473Arg) rs2140682417
NM_005585.5(SMAD6):c.142C>T (p.Arg48Trp)
NM_005585.5(SMAD6):c.1435C>T (p.Gln479Ter)
NM_005585.5(SMAD6):c.1447T>A (p.Ser483Thr) rs1894575580
NM_005585.5(SMAD6):c.1450T>C (p.Cys484Arg) rs1894575710
NM_005585.5(SMAD6):c.1453C>T (p.Pro485Ser)
NM_005585.5(SMAD6):c.1465G>A (p.Glu489Lys)
NM_005585.5(SMAD6):c.1465G>T (p.Glu489Ter)
NM_005585.5(SMAD6):c.1481A>C (p.Asn494Thr)
NM_005585.5(SMAD6):c.1488del (p.Arg496fs) rs2140682691
NM_005585.5(SMAD6):c.1489T>G (p.Ter497Glu)
NM_005585.5(SMAD6):c.148A>T (p.Arg50Ter)
NM_005585.5(SMAD6):c.153G>C (p.Glu51Asp)
NM_005585.5(SMAD6):c.157G>A (p.Gly53Arg) rs1325349483
NM_005585.5(SMAD6):c.161G>C (p.Gly54Ala)
NM_005585.5(SMAD6):c.161G>T (p.Gly54Val)
NM_005585.5(SMAD6):c.169C>A (p.Arg57Ser)
NM_005585.5(SMAD6):c.16C>T (p.Arg6Cys) rs762143900
NM_005585.5(SMAD6):c.170_171delinsTT (p.Arg57Leu) rs1595756540
NM_005585.5(SMAD6):c.172T>C (p.Ser58Pro)
NM_005585.5(SMAD6):c.178G>A (p.Val60Ile) rs1298929102
NM_005585.5(SMAD6):c.182G>C (p.Arg61Pro) rs1306731976
NM_005585.5(SMAD6):c.187G>A (p.Val63Ile) rs1595756583
NM_005585.5(SMAD6):c.18_22dup (p.Gly8fs)
NM_005585.5(SMAD6):c.19T>C (p.Ser7Pro) rs1448375284
NM_005585.5(SMAD6):c.1A>G (p.Met1Val)
NM_005585.5(SMAD6):c.208G>A (p.Asp70Asn)
NM_005585.5(SMAD6):c.20C>A (p.Ser7Ter)
NM_005585.5(SMAD6):c.220C>T (p.Gln74Ter) rs1567091382
NM_005585.5(SMAD6):c.222G>C (p.Gln74His)
NM_005585.5(SMAD6):c.223C>T (p.Arg75Ter) rs1595756640
NM_005585.5(SMAD6):c.232_250del (p.Gln78fs) rs965061234
NM_005585.5(SMAD6):c.232_250dup (p.Arg84fs) rs965061234
NM_005585.5(SMAD6):c.239C>T (p.Ala80Val) rs1555434180
NM_005585.5(SMAD6):c.240_264del (p.Gly81fs)
NM_005585.5(SMAD6):c.247C>G (p.Arg83Gly) rs1301285133
NM_005585.5(SMAD6):c.250C>T (p.Arg84Trp)
NM_005585.5(SMAD6):c.259G>C (p.Gly87Arg) rs1422119769
NM_005585.5(SMAD6):c.259G>T (p.Gly87Trp)
NM_005585.5(SMAD6):c.25C>G (p.Leu9Val)
NM_005585.5(SMAD6):c.262G>T (p.Gly88Cys) rs887913905
NM_005585.5(SMAD6):c.263G>T (p.Gly88Val)
NM_005585.5(SMAD6):c.263del (p.Gly88fs) rs1199495614
NM_005585.5(SMAD6):c.263dup (p.Arg91fs) rs1199495614
NM_005585.5(SMAD6):c.266C>T (p.Pro89Leu) rs1284707011
NM_005585.5(SMAD6):c.268C>T (p.Pro90Ser)
NM_005585.5(SMAD6):c.269C>G (p.Pro90Arg)
NM_005585.5(SMAD6):c.269C>T (p.Pro90Leu) rs1448623139
NM_005585.5(SMAD6):c.269del (p.Pro90fs) rs1006397889
NM_005585.5(SMAD6):c.269dup (p.Arg91fs) rs1006397889
NM_005585.5(SMAD6):c.26T>C (p.Leu9Pro)
NM_005585.5(SMAD6):c.272G>T (p.Arg91Met)
NM_005585.5(SMAD6):c.277A>C (p.Met93Leu) rs781686740
NM_005585.5(SMAD6):c.281C>T (p.Ser94Leu)
NM_005585.5(SMAD6):c.28G>T (p.Val10Leu)
NM_005585.5(SMAD6):c.292G>T (p.Ala98Ser) rs1383502178
NM_005585.5(SMAD6):c.293C>T (p.Ala98Val)
NM_005585.5(SMAD6):c.295G>A (p.Gly99Ser)
NM_005585.5(SMAD6):c.298G>A (p.Ala100Thr) rs946134204
NM_005585.5(SMAD6):c.298G>C (p.Ala100Pro) rs946134204
NM_005585.5(SMAD6):c.29T>G (p.Val10Gly)
NM_005585.5(SMAD6):c.2T>A (p.Met1Lys)
NM_005585.5(SMAD6):c.2T>C (p.Met1Thr) rs1409145798
NM_005585.5(SMAD6):c.2T>G (p.Met1Arg) rs1409145798
NM_005585.5(SMAD6):c.301G>A (p.Gly101Arg) rs1433694123
NM_005585.5(SMAD6):c.302G>T (p.Gly101Val)
NM_005585.5(SMAD6):c.303del (p.Ser102fs)
NM_005585.5(SMAD6):c.318_320delinsAGG (p.Asp106_Val107delinsGluGly) rs1060500751
NM_005585.5(SMAD6):c.319G>A (p.Val107Met)
NM_005585.5(SMAD6):c.32G>A (p.Arg11Gln)
NM_005585.5(SMAD6):c.338C>T (p.Pro113Leu)
NM_005585.5(SMAD6):c.341dup (p.Trp115fs) rs1893030772
NM_005585.5(SMAD6):c.350C>G (p.Pro117Arg)
NM_005585.5(SMAD6):c.350C>T (p.Pro117Leu)
NM_005585.5(SMAD6):c.352G>A (p.Glu118Lys)
NM_005585.5(SMAD6):c.356G>A (p.Ser119Asn)
NM_005585.5(SMAD6):c.358G>A (p.Asp120Asn)
NM_005585.5(SMAD6):c.358G>C (p.Asp120His) rs1397296874
NM_005585.5(SMAD6):c.363C>G (p.Cys121Trp)
NM_005585.5(SMAD6):c.364G>T (p.Glu122Ter) rs1567091529
NM_005585.5(SMAD6):c.382C>A (p.Leu128Ile) rs1567091533
NM_005585.5(SMAD6):c.382C>T (p.Leu128Phe) rs1567091533
NM_005585.5(SMAD6):c.384_385del (p.Ser130fs)
NM_005585.5(SMAD6):c.387_388del (p.Ser130fs) rs2140581496
NM_005585.5(SMAD6):c.38T>G (p.Leu13Arg) rs1893016936
NM_005585.5(SMAD6):c.395G>T (p.Arg132Leu)
NM_005585.5(SMAD6):c.403_423del (p.Ala135_Ala141del)
NM_005585.5(SMAD6):c.403_423dup (p.Ala141_Ser142insAlaGlyAlaProArgAspAla)
NM_005585.5(SMAD6):c.413C>T (p.Pro138Leu) rs1595756885
NM_005585.5(SMAD6):c.415C>T (p.Arg139Trp)
NM_005585.5(SMAD6):c.418G>A (p.Asp140Asn)
NM_005585.5(SMAD6):c.41G>A (p.Trp14Ter)
NM_005585.5(SMAD6):c.422C>G (p.Ala141Gly)
NM_005585.5(SMAD6):c.425_426delinsTT (p.Ser142Ile)
NM_005585.5(SMAD6):c.428A>T (p.Asp143Val)
NM_005585.5(SMAD6):c.430C>A (p.Pro144Thr)
NM_005585.5(SMAD6):c.439G>C (p.Gly147Arg)
NM_005585.5(SMAD6):c.439G>T (p.Gly147Trp) rs867644316
NM_005585.5(SMAD6):c.43C>G (p.Arg15Gly) rs766270982
NM_005585.5(SMAD6):c.43C>T (p.Arg15Ter)
NM_005585.5(SMAD6):c.446C>T (p.Ala149Val) rs535980291
NM_005585.5(SMAD6):c.455C>T (p.Pro152Leu)
NM_005585.5(SMAD6):c.461dup (p.Gly155fs)
NM_005585.5(SMAD6):c.465_471del (p.Gly156fs) rs958818801
NM_005585.5(SMAD6):c.465_471dup (p.Ser158fs) rs958818801
NM_005585.5(SMAD6):c.466G>T (p.Gly156Trp)
NM_005585.5(SMAD6):c.474T>G (p.Ser158Arg)
NM_005585.5(SMAD6):c.475C>G (p.Arg159Gly)
NM_005585.5(SMAD6):c.477_478del (p.Glu160fs)
NM_005585.5(SMAD6):c.481G>T (p.Ala161Ser)
NM_005585.5(SMAD6):c.485G>T (p.Arg162Leu)
NM_005585.5(SMAD6):c.488C>A (p.Ser163Ter)
NM_005585.5(SMAD6):c.488C>T (p.Ser163Leu)
NM_005585.5(SMAD6):c.490C>T (p.Arg164Trp)
NM_005585.5(SMAD6):c.493CTG[3] (p.Leu168del)
NM_005585.5(SMAD6):c.493CTG[5] (p.Leu168_Glu169insLeu)
NM_005585.5(SMAD6):c.494T>G (p.Leu165Arg)
NM_005585.5(SMAD6):c.503T>C (p.Leu168Pro)
NM_005585.5(SMAD6):c.505G>T (p.Glu169Ter)
NM_005585.5(SMAD6):c.508C>T (p.Gln170Ter) rs1235097131
NM_005585.5(SMAD6):c.511G>T (p.Glu171Ter) rs1893037722
NM_005585.5(SMAD6):c.519A>T (p.Lys173Asn)
NM_005585.5(SMAD6):c.521C>T (p.Thr174Ile)
NM_005585.5(SMAD6):c.531C>G (p.Tyr177Ter) rs760571406
NM_005585.5(SMAD6):c.533C>A (p.Ser178Ter)
NM_005585.5(SMAD6):c.533C>G (p.Ser178Trp)
NM_005585.5(SMAD6):c.533C>T (p.Ser178Leu)
NM_005585.5(SMAD6):c.536T>C (p.Leu179Pro) rs1278620954
NM_005585.5(SMAD6):c.544C>T (p.Arg182Trp)
NM_005585.5(SMAD6):c.550A>C (p.Lys184Gln)
NM_005585.5(SMAD6):c.553G>A (p.Glu185Lys)
NM_005585.5(SMAD6):c.553G>C (p.Glu185Gln) rs1893039406
NM_005585.5(SMAD6):c.553G>T (p.Glu185Ter)
NM_005585.5(SMAD6):c.556C>T (p.Arg186Cys)
NM_005585.5(SMAD6):c.557G>A (p.Arg186His)
NM_005585.5(SMAD6):c.557G>C (p.Arg186Pro)
NM_005585.5(SMAD6):c.559T>C (p.Ser187Pro)
NM_005585.5(SMAD6):c.55G>T (p.Val19Phe)
NM_005585.5(SMAD6):c.569C>A (p.Thr190Lys) rs1893040158
NM_005585.5(SMAD6):c.569C>T (p.Thr190Met) rs1893040158
NM_005585.5(SMAD6):c.583G>A (p.Val195Met)
NM_005585.5(SMAD6):c.584_611del (p.Val195fs)
NM_005585.5(SMAD6):c.586G>T (p.Glu196Ter)
NM_005585.5(SMAD6):c.588G>T (p.Glu196Asp) rs1567091749
NM_005585.5(SMAD6):c.590C>T (p.Ser197Phe)
NM_005585.5(SMAD6):c.592C>T (p.Arg198Cys) rs1261743877
NM_005585.5(SMAD6):c.595G>C (p.Gly199Arg)
NM_005585.5(SMAD6):c.598_612del (p.Gly200_Gly204del)
NM_005585.5(SMAD6):c.605C>T (p.Pro202Leu)
NM_005585.5(SMAD6):c.611G>C (p.Gly204Ala) rs768542939
NM_005585.5(SMAD6):c.611G>T (p.Gly204Val)
NM_005585.5(SMAD6):c.613T>G (p.Cys205Gly)
NM_005585.5(SMAD6):c.613del (p.Cys205fs)
NM_005585.5(SMAD6):c.614_615delinsAA (p.Cys205Ter)
NM_005585.5(SMAD6):c.620T>G (p.Leu207Arg)
NM_005585.5(SMAD6):c.623T>C (p.Val208Ala)
NM_005585.5(SMAD6):c.628C>T (p.Arg210Cys)
NM_005585.5(SMAD6):c.635A>G (p.Asp212Gly)
NM_005585.5(SMAD6):c.637C>G (p.Leu213Val)
NM_005585.5(SMAD6):c.638dup (p.Arg214fs)
NM_005585.5(SMAD6):c.641G>A (p.Arg214His)
NM_005585.5(SMAD6):c.649G>T (p.Gly217Cys)
NM_005585.5(SMAD6):c.652C>T (p.Gln218Ter) rs1196005021
NM_005585.5(SMAD6):c.656C>G (p.Pro219Arg) rs1567091826
NM_005585.5(SMAD6):c.667dup (p.Gln223fs) rs2140582321
NM_005585.5(SMAD6):c.680G>A (p.Gly227Asp)
NM_005585.5(SMAD6):c.680_684delinsTCGT (p.Gly227fs) rs1893046284
NM_005585.5(SMAD6):c.682C>G (p.Arg228Gly)
NM_005585.5(SMAD6):c.683G>A (p.Arg228His) rs1439907263
NM_005585.5(SMAD6):c.685C>G (p.Leu229Val)
NM_005585.5(SMAD6):c.691C>A (p.Arg231Ser)
NM_005585.5(SMAD6):c.691C>G (p.Arg231Gly) rs1395007983
NM_005585.5(SMAD6):c.691C>T (p.Arg231Cys) rs1395007983
NM_005585.5(SMAD6):c.692G>C (p.Arg231Pro) rs1419095990
NM_005585.5(SMAD6):c.706C>T (p.Gln236Ter)
NM_005585.5(SMAD6):c.719A>G (p.Glu240Gly) rs2140582546
NM_005585.5(SMAD6):c.71A>G (p.Glu24Gly)
NM_005585.5(SMAD6):c.725A>C (p.Lys242Thr)
NM_005585.5(SMAD6):c.730C>G (p.Leu244Val)
NM_005585.5(SMAD6):c.736_755dup (p.Asp255fs)
NM_005585.5(SMAD6):c.741C>A (p.Cys247Ter)
NM_005585.5(SMAD6):c.741C>G (p.Cys247Trp) rs2140582642
NM_005585.5(SMAD6):c.746G>T (p.Ser249Ile) rs924088670
NM_005585.5(SMAD6):c.747C>G (p.Ser249Arg)
NM_005585.5(SMAD6):c.748_749delinsGC (p.Phe250Ala)
NM_005585.5(SMAD6):c.752CCG[5] (p.Ala254dup) rs774732566
NM_005585.5(SMAD6):c.754G>T (p.Ala252Ser)
NM_005585.5(SMAD6):c.757G>A (p.Ala253Thr) rs1893050180
NM_005585.5(SMAD6):c.764A>C (p.Asp255Ala)
NM_005585.5(SMAD6):c.781T>G (p.Cys261Gly) rs2140582832
NM_005585.5(SMAD6):c.785A>T (p.Asn262Ile) rs1436851649
NM_005585.5(SMAD6):c.787C>A (p.Pro263Thr)
NM_005585.5(SMAD6):c.787C>T (p.Pro263Ser) rs1382712515
NM_005585.5(SMAD6):c.788C>T (p.Pro263Leu) rs765573567
NM_005585.5(SMAD6):c.791del (p.Tyr264fs)
NM_005585.5(SMAD6):c.793C>T (p.His265Tyr) rs1555434295
NM_005585.5(SMAD6):c.794del (p.His265fs) rs1567092071
NM_005585.5(SMAD6):c.79_84del (p.Ser27_Gly28del) rs769605183
NM_005585.5(SMAD6):c.79_84dup (p.Gly28_Gly29insSerGly)
NM_005585.5(SMAD6):c.800G>C (p.Ser267Thr)
NM_005585.5(SMAD6):c.802C>T (p.Arg268Trp)
NM_005585.5(SMAD6):c.806T>A (p.Leu269His)
NM_005585.5(SMAD6):c.812G>C (p.Gly271Ala)
NM_005585.5(SMAD6):c.814C>G (p.Pro272Ala)
NM_005585.5(SMAD6):c.817+4A>G
NM_005585.5(SMAD6):c.817G>A (p.Glu273Lys)
NM_005585.5(SMAD6):c.817G>T (p.Glu273Ter) rs1259557323
NM_005585.5(SMAD6):c.818-1G>A
NM_005585.5(SMAD6):c.81CGG[5] (p.Gly33dup) rs936063348
NM_005585.5(SMAD6):c.832C>T (p.Pro278Ser)
NM_005585.5(SMAD6):c.841C>T (p.Arg281Trp) rs200004068
NM_005585.5(SMAD6):c.842G>A (p.Arg281Gln) rs758203577
NM_005585.5(SMAD6):c.857A>G (p.Asp286Gly)
NM_005585.5(SMAD6):c.874+1G>C
NM_005585.5(SMAD6):c.874+4A>C
NM_005585.5(SMAD6):c.874+4A>G
NM_005585.5(SMAD6):c.874G>A (p.Asp292Asn)
NM_005585.5(SMAD6):c.875-1G>A
NM_005585.5(SMAD6):c.875-1G>C rs768925483
NM_005585.5(SMAD6):c.875-2A>T
NM_005585.5(SMAD6):c.896C>G (p.Ser299Cys)
NM_005585.5(SMAD6):c.89G>C (p.Gly30Ala) rs1567091237
NM_005585.5(SMAD6):c.89_100dup (p.Gly30_Gly33dup) rs1473812330
NM_005585.5(SMAD6):c.89_103dup (p.Asp34_Glu35insGlyGlyGlyGlyAsp)
NM_005585.5(SMAD6):c.900C>G (p.Tyr300Ter)
NM_005585.5(SMAD6):c.901A>G (p.Thr301Ala) rs1470199537
NM_005585.5(SMAD6):c.901A>T (p.Thr301Ser) rs1470199537
NM_005585.5(SMAD6):c.916A>G (p.Thr306Ala)
NM_005585.5(SMAD6):c.928A>G (p.Ile310Val)
NM_005585.5(SMAD6):c.92_100del (p.Gly31_Gly33del) rs750149627
NM_005585.5(SMAD6):c.93_95del (p.Gly33del) rs1046189206
NM_005585.5(SMAD6):c.953-2A>G rs1016515449
NM_005585.5(SMAD6):c.953-2_968del
NM_005585.5(SMAD6):c.95GCG[4] (p.Gly32_Gly33dup) rs758201660
NM_005585.5(SMAD6):c.976A>G (p.Thr326Ala) rs747009304
NM_005585.5(SMAD6):c.97G>A (p.Gly33Ser)
NM_005585.5(SMAD6):c.97G>T (p.Gly33Cys) rs769111756
NM_005585.5(SMAD6):c.983C>T (p.Pro328Leu)
NM_005585.5(SMAD6):c.991_992insCAC (p.Trp331delinsSerArg) rs2140681073
NM_005585.5(SMAD6):c.993G>C (p.Trp331Cys)
NM_005585.5(SMAD6):c.998G>A (p.Ser333Asn)
NM_017617.5(NOTCH1):c.1070T>C (p.Phe357Ser) rs1843316172
NM_017617.5(NOTCH1):c.1070_1072del (p.Phe357del) rs1843316084
NM_017617.5(NOTCH1):c.1220C>G (p.Pro407Arg) rs754529382
NM_017617.5(NOTCH1):c.1242T>G (p.Asp414Glu) rs1843307597
NM_017617.5(NOTCH1):c.1505A>G (p.Asn502Ser)
NM_017617.5(NOTCH1):c.1542C>G (p.Cys514Trp)
NM_017617.5(NOTCH1):c.1711G>A (p.Asp571Asn) rs373125283
NM_017617.5(NOTCH1):c.1741A>G (p.Lys581Glu) rs778992111
NM_017617.5(NOTCH1):c.1753G>A (p.Ala585Thr) rs775217381
NM_017617.5(NOTCH1):c.2062C>T (p.His688Tyr)
NM_017617.5(NOTCH1):c.2148G>C (p.Glu716Asp) rs376468003
NM_017617.5(NOTCH1):c.2153A>G (p.Asn718Ser) rs1843232044
NM_017617.5(NOTCH1):c.2243C>A (p.Thr748Asn) rs1284149123
NM_017617.5(NOTCH1):c.2291A>G (p.Asn764Ser) rs1454630791
NM_017617.5(NOTCH1):c.2326G>T (p.Val776Leu) rs377286829
NM_017617.5(NOTCH1):c.236G>A (p.Arg79His) rs768517628
NM_017617.5(NOTCH1):c.2446A>G (p.Asn816Asp) rs1589064290
NM_017617.5(NOTCH1):c.2501C>G (p.Ala834Gly) rs202144877
NM_017617.5(NOTCH1):c.2520CGG[1] (p.Gly842del) rs754554370
NM_017617.5(NOTCH1):c.2558_2560del (p.Phe853del) rs779164170
NM_017617.5(NOTCH1):c.269_270delinsTG (p.Ala90Val) rs1554730737
NM_017617.5(NOTCH1):c.2705G>A (p.Arg902His) rs373075482
NM_017617.5(NOTCH1):c.2851A>G (p.Ser951Gly) rs1843150410
NM_017617.5(NOTCH1):c.2898_2899delinsGA (p.Ser966_Tyr967delinsArgAsn) rs1843149230
NM_017617.5(NOTCH1):c.2950A>G (p.Thr984Ala) rs1843147969
NM_017617.5(NOTCH1):c.2963C>T (p.Thr988Ile) rs1843147704
NM_017617.5(NOTCH1):c.3104C>T (p.Thr1035Ile) rs886039138
NM_017617.5(NOTCH1):c.3262G>C (p.Gly1088Arg) rs531420022
NM_017617.5(NOTCH1):c.335G>A (p.Arg112His) rs768625801
NM_017617.5(NOTCH1):c.3556G>C (p.Glu1186Gln)
NM_017617.5(NOTCH1):c.3579G>T (p.Gln1193His) rs61751544
NM_017617.5(NOTCH1):c.35C>T (p.Ala12Val) rs1473062369
NM_017617.5(NOTCH1):c.3604C>T (p.Pro1202Ser) rs1554728268
NM_017617.5(NOTCH1):c.3638C>G (p.Thr1213Ser) rs750536437
NM_017617.5(NOTCH1):c.3832G>A (p.Ala1278Thr) rs1406056612
NM_017617.5(NOTCH1):c.3853G>T (p.Val1285Leu) rs756972680
NM_017617.5(NOTCH1):c.3970G>T (p.Val1324Leu) rs149057410
NM_017617.5(NOTCH1):c.3974C>A (p.Ala1325Asp) rs896438598
NM_017617.5(NOTCH1):c.3999C>G (p.Ile1333Met)
NM_017617.5(NOTCH1):c.4016G>C (p.Gly1339Ala) rs1131692021
NM_017617.5(NOTCH1):c.4049G>C (p.Arg1350Pro) rs150343794
NM_017617.5(NOTCH1):c.4058G>A (p.Gly1353Asp) rs1274662962
NM_017617.5(NOTCH1):c.4335C>G (p.Ile1445Met) rs373960609
NM_017617.5(NOTCH1):c.433G>A (p.Ala145Thr) rs1388726872
NM_017617.5(NOTCH1):c.4583_4586+2dup
NM_017617.5(NOTCH1):c.4608C>G (p.Cys1536Trp)
NM_017617.5(NOTCH1):c.475G>A (p.Glu159Lys)
NM_017617.5(NOTCH1):c.4971C>G (p.Ser1657Arg) rs367838230
NM_017617.5(NOTCH1):c.4985G>A (p.Arg1662Gln) rs774808496
NM_017617.5(NOTCH1):c.5155G>A (p.Glu1719Lys) rs750085425
NM_017617.5(NOTCH1):c.5167+5G>A
NM_017617.5(NOTCH1):c.5215G>A (p.Val1739Met) rs377294245
NM_017617.5(NOTCH1):c.5218G>T (p.Ala1740Ser) rs864622062
NM_017617.5(NOTCH1):c.5351G>A (p.Arg1784Gln)
NM_017617.5(NOTCH1):c.5430G>C (p.Gln1810His) rs1843005523
NM_017617.5(NOTCH1):c.5438G>T (p.Trp1813Leu) rs755659037
NM_017617.5(NOTCH1):c.5476G>A (p.Glu1826Lys) rs374103443
NM_017617.5(NOTCH1):c.5661C>G (p.Ile1887Met) rs750185397
NM_017617.5(NOTCH1):c.5819G>A (p.Arg1940His) rs897872809
NM_017617.5(NOTCH1):c.5923G>A (p.Gly1975Ser)
NM_017617.5(NOTCH1):c.59G>T (p.Arg20Leu) rs1554733799
NM_017617.5(NOTCH1):c.620G>A (p.Arg207His) rs779118023
NM_017617.5(NOTCH1):c.6284G>T (p.Arg2095Leu) rs756874994
NM_017617.5(NOTCH1):c.6397C>A (p.Pro2133Thr) rs61733294
NM_017617.5(NOTCH1):c.6739C>G (p.Leu2247Val) rs377165086
NM_017617.5(NOTCH1):c.6744C>G (p.Asn2248Lys) rs372771288
NM_017617.5(NOTCH1):c.6767C>T (p.Ala2256Val) rs759225800
NM_017617.5(NOTCH1):c.6851C>T (p.Thr2284Ile) rs1341934554
NM_017617.5(NOTCH1):c.7151A>G (p.Gln2384Arg) rs1842918547
NM_017617.5(NOTCH1):c.7209G>C (p.Gln2403His) rs61751486
NM_017617.5(NOTCH1):c.7311G>T (p.Glu2437Asp) rs886039031
NM_017617.5(NOTCH1):c.928G>A (p.Gly310Arg)
NM_017617.5(NOTCH1):c.968G>A (p.Cys323Tyr)
NM_019055.6(ROBO4):c.1529A>T (p.Asp510Val) rs1565325937
NM_019055.6(ROBO4):c.1678C>T (p.Arg560Cys)
NM_019055.6(ROBO4):c.184A>G (p.Thr62Ala)
NM_019055.6(ROBO4):c.1900C>T (p.Arg634Cys)
NM_019055.6(ROBO4):c.2092C>A (p.Leu698Met)
NM_019055.6(ROBO4):c.2182C>T (p.Gln728Ter)
NM_019055.6(ROBO4):c.2758G>A (p.Gly920Ser)
NM_019055.6(ROBO4):c.746T>C (p.Leu249Pro)
NM_181486.4(TBX5):c.1010C>A (p.Pro337His)
NM_181486.4(TBX5):c.1027A>G (p.Met343Val)
NM_181486.4(TBX5):c.1039C>T (p.Pro347Ser)
NM_181486.4(TBX5):c.10G>A (p.Ala4Thr) rs1319312312
NM_181486.4(TBX5):c.1114T>A (p.Ser372Thr)
NM_181486.4(TBX5):c.1135A>C (p.Met379Leu)
NM_181486.4(TBX5):c.1135A>T (p.Met379Leu) rs759607221
NM_181486.4(TBX5):c.1140T>G (p.Tyr380Ter)
NM_181486.4(TBX5):c.1165C>T (p.Pro389Ser) rs1187747905
NM_181486.4(TBX5):c.1166C>A (p.Pro389His)
NM_181486.4(TBX5):c.1203G>T (p.Trp401Cys)
NM_181486.4(TBX5):c.1242C>A (p.Thr414=) rs370133092
NM_181486.4(TBX5):c.1429C>T (p.Gln477Ter)
NM_181486.4(TBX5):c.1430A>G (p.Gln477Arg)
NM_181486.4(TBX5):c.1442C>T (p.Thr481Ile)
NM_181486.4(TBX5):c.1450C>T (p.Pro484Ser)
NM_181486.4(TBX5):c.1544G>A (p.Ser515Asn)
NM_181486.4(TBX5):c.1545C>A (p.Ser515Arg)
NM_181486.4(TBX5):c.1546G>A (p.Asp516Asn)
NM_181486.4(TBX5):c.158G>A (p.Gly53Glu)
NM_181486.4(TBX5):c.188T>G (p.Leu63Arg)
NM_181486.4(TBX5):c.242G>A (p.Arg81Lys)
NM_181486.4(TBX5):c.249G>A (p.Met83Ile)
NM_181486.4(TBX5):c.260A>G (p.Tyr87Cys) rs886039131
NM_181486.4(TBX5):c.26G>A (p.Gly9Asp)
NM_181486.4(TBX5):c.286C>T (p.Pro96Ser)
NM_181486.4(TBX5):c.29T>G (p.Leu10Arg)
NM_181486.4(TBX5):c.309_310delinsAC (p.Met104Leu) rs2136418134
NM_181486.4(TBX5):c.38C>A (p.Thr13Lys) rs763125466
NM_181486.4(TBX5):c.401G>C (p.Arg134Pro)
NM_181486.4(TBX5):c.401G>T (p.Arg134Leu)
NM_181486.4(TBX5):c.422C>A (p.Ser141Tyr) rs1871581681
NM_181486.4(TBX5):c.422C>G (p.Ser141Cys)
NM_181486.4(TBX5):c.476A>C (p.Lys159Thr) rs2136416640
NM_181486.4(TBX5):c.479T>C (p.Leu160Pro)
NM_181486.4(TBX5):c.481A>T (p.Thr161Ser) rs2136416621
NM_181486.4(TBX5):c.482C>T (p.Thr161Ile)
NM_181486.4(TBX5):c.492C>G (p.His164Gln)
NM_181486.4(TBX5):c.503T>C (p.Phe168Ser)
NM_181486.4(TBX5):c.510+5G>A rs1555226301
NM_181486.4(TBX5):c.529C>T (p.His177Tyr)
NM_181486.4(TBX5):c.557T>G (p.Val186Gly) rs1555226019
NM_181486.4(TBX5):c.613G>A (p.Val205Ile)
NM_181486.4(TBX5):c.628_645del (p.Ala210_Thr215del)
NM_181486.4(TBX5):c.663+6C>G
NM_181486.4(TBX5):c.698C>T (p.Ala233Val) rs1870766147
NM_181486.4(TBX5):c.719A>G (p.Asp240Gly)
NM_181486.4(TBX5):c.731T>C (p.Leu244Pro)
NM_181486.4(TBX5):c.755+4G>A
NM_181486.4(TBX5):c.755G>T (p.Ser252Ile) rs863223776
NM_181486.4(TBX5):c.841C>G (p.Leu281Val) rs760177359
NM_181486.4(TBX5):c.862G>A (p.Gly288Arg)
NM_181486.4(TBX5):c.90C>A (p.Ser30Arg)
NM_181486.4(TBX5):c.927C>A (p.Asn309Lys)
NM_181486.4(TBX5):c.937C>G (p.Leu313Val)
NM_181486.4(TBX5):c.944A>G (p.Gln315Arg)

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.