ClinVar Miner

List of variants reported as uncertain significance for atrial septal defect

Included ClinVar conditions (61):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 773
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HGVS dbSNP gnomAD frequency
NM_001308093.3(GATA4):c.825C>T (p.Cys275=) rs55980825 0.00275
NM_005159.4(ACTC1):c.*1781C>T rs560065427 0.00041
NM_005159.4(ACTC1):c.*983C>T rs549986676 0.00035
NM_002471.4(MYH6):c.5627A>G (p.Lys1876Arg) rs201919534 0.00033
NM_002471.4(MYH6):c.3230A>T (p.Gln1077Leu) rs377716628 0.00032
NM_002471.4(MYH6):c.292G>A (p.Glu98Lys) rs140596256 0.00030
NM_002471.4(MYH6):c.4505G>A (p.Arg1502Gln) rs199936506 0.00022
NM_002471.4(MYH6):c.4772A>G (p.Asn1591Ser) rs200751434 0.00022
NM_005257.6(GATA6):c.839G>C (p.Gly280Ala) rs904519303 0.00022
NM_002471.4(MYH6):c.3383G>A (p.Arg1128His) rs376002621 0.00021
NM_001308093.3(GATA4):c.392C>G (p.Ala131Gly) rs1013984246 0.00019
NM_002471.4(MYH6):c.3598G>C (p.Asp1200His) rs372794975 0.00019
NM_002471.4(MYH6):c.4328C>A (p.Ala1443Asp) rs727503234 0.00019
NM_001077653.2(TBX20):c.546-8T>A rs191362319 0.00018
NM_005257.6(GATA6):c.1663C>G (p.Pro555Ala) rs146243018 0.00018
NM_002471.4(MYH6):c.5293G>A (p.Ala1765Thr) rs397516775 0.00016
NM_001077653.2(TBX20):c.1309C>T (p.Arg437Cys) rs200704561 0.00015
NM_001077653.2(TBX20):c.1310G>A (p.Arg437His) rs375484585 0.00014
NM_002471.4(MYH6):c.1753G>A (p.Gly585Ser) rs150415679 0.00014
NM_002471.4(MYH6):c.2611C>T (p.Arg871Cys) rs376682837 0.00014
NM_002471.4(MYH6):c.2383C>T (p.Arg795Trp) rs202120238 0.00013
NM_002471.4(MYH6):c.115G>A (p.Val39Met) rs142850511 0.00012
NM_001077653.2(TBX20):c.457G>A (p.Val153Ile) rs776152314 0.00011
NM_002471.4(MYH6):c.2929-3C>T rs376752266 0.00011
NM_002471.4(MYH6):c.5519A>G (p.Lys1840Arg) rs373629059 0.00011
NM_002471.4(MYH6):c.7G>A (p.Asp3Asn) rs371667049 0.00011
NM_004387.4(NKX2-5):c.885C>G (p.Phe295Leu) rs150581386 0.00011
NM_001308093.3(GATA4):c.1223C>A (p.Pro408Gln) rs115099192 0.00010
NM_002471.4(MYH6):c.161G>A (p.Arg54Gln) rs727503239 0.00010
NM_002471.4(MYH6):c.3346C>A (p.Arg1116Ser) rs372446459 0.00010
NM_002471.4(MYH6):c.4264C>T (p.Arg1422Trp) rs200465713 0.00010
NM_005257.6(GATA6):c.259C>T (p.Pro87Ser) rs563978220 0.00010
NM_001077653.2(TBX20):c.418G>A (p.Val140Met) rs766745923 0.00009
NM_001308093.3(GATA4):c.942G>T (p.Glu314Asp) rs372407808 0.00009
NM_002471.4(MYH6):c.203C>T (p.Thr68Met) rs751285148 0.00009
NM_002471.4(MYH6):c.2554G>A (p.Ala852Thr) rs776971183 0.00009
NM_002471.4(MYH6):c.3612G>C (p.Glu1204Asp) rs751153777 0.00009
NM_002471.4(MYH6):c.4828C>T (p.Arg1610Cys) rs780726611 0.00009
NM_004387.4(NKX2-5):c.839C>T (p.Pro280Leu) rs761596254 0.00009
NM_001308093.3(GATA4):c.623T>C (p.Met208Thr) rs140892695 0.00008
NM_002471.4(MYH6):c.3274C>G (p.Gln1092Glu) rs567433969 0.00008
NM_002471.4(MYH6):c.3604G>A (p.Val1202Met) rs368451573 0.00008
NM_002471.4(MYH6):c.4016G>A (p.Arg1339Gln) rs766238876 0.00008
NM_004387.4(NKX2-5):c.769C>A (p.Pro257Thr) rs387906776 0.00008
NM_002471.4(MYH6):c.1244G>C (p.Gly415Ala) rs759520932 0.00007
NM_002471.4(MYH6):c.3808C>T (p.Arg1270Cys) rs371849826 0.00007
NM_002471.4(MYH6):c.4666G>A (p.Glu1556Lys) rs148582147 0.00007
NM_002471.4(MYH6):c.5501G>A (p.Arg1834His) rs202132499 0.00007
NM_002471.4(MYH6):c.642+4C>T rs369858520 0.00007
NM_001077653.2(TBX20):c.599T>C (p.Met200Thr) rs151183955 0.00006
NM_002471.4(MYH6):c.1628A>G (p.Lys543Arg) rs367663906 0.00006
NM_002471.4(MYH6):c.2258T>C (p.Ile753Thr) rs369729808 0.00006
NM_002471.4(MYH6):c.226G>A (p.Val76Met) rs977234074 0.00006
NM_002471.4(MYH6):c.2716C>T (p.Arg906Cys) rs143928061 0.00006
NM_002471.4(MYH6):c.2951T>C (p.Met984Thr) rs202028680 0.00006
NM_002471.4(MYH6):c.3427C>T (p.Arg1143Trp) rs755209382 0.00006
NM_002471.4(MYH6):c.3619G>A (p.Glu1207Lys) rs397516762 0.00006
NM_002471.4(MYH6):c.3923T>G (p.Leu1308Arg) rs776486154 0.00006
NM_002471.4(MYH6):c.4747G>A (p.Glu1583Lys) rs397516771 0.00006
NM_002471.4(MYH6):c.4991G>A (p.Arg1664His) rs778287981 0.00006
NM_002471.4(MYH6):c.5102G>A (p.Arg1701Gln) rs762103586 0.00006
NM_002471.4(MYH6):c.5458C>T (p.Arg1820Trp) rs111473291 0.00006
NM_002471.4(MYH6):c.5491G>A (p.Glu1831Lys) rs367834703 0.00006
NM_004387.4(NKX2-5):c.65A>G (p.Gln22Arg) rs201442000 0.00006
NM_005257.6(GATA6):c.660C>T (p.Gly220=) rs1385756157 0.00006
NM_001077653.2(TBX20):c.86C>G (p.Ser29Cys) rs13237089 0.00005
NM_002471.4(MYH6):c.190G>A (p.Glu64Lys) rs750818212 0.00005
NM_002471.4(MYH6):c.3785G>A (p.Arg1262His) rs544358806 0.00005
NM_002471.4(MYH6):c.5077G>A (p.Val1693Met) rs373457153 0.00005
NM_004387.4(NKX2-5):c.890_891dup (p.Gly298fs) rs778545351 0.00005
NM_002471.4(MYH6):c.1336G>A (p.Ala446Thr) rs556536964 0.00004
NM_002471.4(MYH6):c.1639A>G (p.Met547Val) rs760722098 0.00004
NM_002471.4(MYH6):c.2384G>A (p.Arg795Gln) rs267606907 0.00004
NM_002471.4(MYH6):c.2612G>A (p.Arg871His) rs869025473 0.00004
NM_002471.4(MYH6):c.268A>G (p.Met90Val) rs778199745 0.00004
NM_002471.4(MYH6):c.3124C>A (p.Gln1042Lys) rs756244326 0.00004
NM_002471.4(MYH6):c.3287T>C (p.Ile1096Thr) rs762901493 0.00004
NM_002471.4(MYH6):c.3413G>A (p.Arg1138His) rs745801044 0.00004
NM_002471.4(MYH6):c.3476C>T (p.Thr1159Met) rs780305056 0.00004
NM_002471.4(MYH6):c.3618C>T (p.Gly1206=) rs765103086 0.00004
NM_002471.4(MYH6):c.4082G>A (p.Arg1361His) rs533942127 0.00004
NM_002471.4(MYH6):c.4525+3G>A rs750348638 0.00004
NM_002471.4(MYH6):c.4822C>T (p.Arg1608Cys) rs201683868 0.00004
NM_002471.4(MYH6):c.5513C>T (p.Ser1838Leu) rs747673552 0.00004
NM_002471.4(MYH6):c.5594G>A (p.Arg1865Gln) rs138720701 0.00004
NM_002471.4(MYH6):c.5735C>T (p.Ala1912Val) rs373076710 0.00004
NM_002471.4(MYH6):c.610C>T (p.Arg204Cys) rs756369181 0.00004
NM_002471.4(MYH6):c.928G>A (p.Asp310Asn) rs374692396 0.00004
NM_004387.4(NKX2-5):c.188C>T (p.Ala63Val) rs530270916 0.00004
NM_004387.4(NKX2-5):c.370A>G (p.Lys124Glu) rs781260821 0.00004
NM_004387.4(NKX2-5):c.494C>T (p.Ala165Val) rs984722259 0.00004
NM_004387.4(NKX2-5):c.673C>T (p.Arg225Cys) rs866974584 0.00004
NM_004387.4(NKX2-5):c.706C>A (p.Pro236Thr) rs770192204 0.00004
NM_004387.4(NKX2-5):c.753C>G (p.Asn251Lys) rs765528024 0.00004
NM_004387.4(NKX2-5):c.82G>A (p.Ala28Thr) rs1279595214 0.00004
NM_004387.4(NKX2-5):c.848C>A (p.Pro283Gln) rs375086983 0.00004
NM_005159.4(ACTC1):c.*1318T>G rs759530643 0.00004
NM_005159.5(ACTC1):c.*39C>T rs3729758 0.00004
NM_005159.5(ACTC1):c.56_57insCA (p.Lys20fs) rs730880387 0.00004
NM_005159.5(ACTC1):c.623G>A (p.Arg208His) rs142839840 0.00004
NM_001009944.3(PKD1):c.226C>T (p.His76Tyr) rs932577597 0.00003
NM_001077653.2(TBX20):c.785C>T (p.Thr262Met) rs747369702 0.00003
NM_001308093.3(GATA4):c.94G>C (p.Ala32Pro) rs773545065 0.00003
NM_002471.4(MYH6):c.1088T>C (p.Met363Thr) rs150272218 0.00003
NM_002471.4(MYH6):c.2018G>A (p.Arg673His) rs1023327699 0.00003
NM_002471.4(MYH6):c.2065C>A (p.Pro689Thr) rs748016197 0.00003
NM_002471.4(MYH6):c.233A>G (p.Gln78Arg) rs772216708 0.00003
NM_002471.4(MYH6):c.2399G>A (p.Arg800His) rs535438755 0.00003
NM_002471.4(MYH6):c.2615G>A (p.Arg872His) rs773162706 0.00003
NM_002471.4(MYH6):c.2827C>T (p.Arg943Cys) rs368912844 0.00003
NM_002471.4(MYH6):c.2984C>G (p.Thr995Ser) rs753891816 0.00003
NM_002471.4(MYH6):c.3508G>A (p.Glu1170Lys) rs727503236 0.00003
NM_002471.4(MYH6):c.3755G>A (p.Arg1252Gln) rs759454361 0.00003
NM_002471.4(MYH6):c.4750G>A (p.Glu1584Lys) rs1280321639 0.00003
NM_002471.4(MYH6):c.4768C>A (p.Arg1590Ser) rs544624250 0.00003
NM_002471.4(MYH6):c.4829G>A (p.Arg1610His) rs758792342 0.00003
NM_002471.4(MYH6):c.49C>T (p.Arg17Cys) rs1131691313 0.00003
NM_002471.4(MYH6):c.530+6C>T rs374289431 0.00003
NM_002471.4(MYH6):c.5593C>T (p.Arg1865Trp) rs759499155 0.00003
NM_002471.4(MYH6):c.5780G>T (p.Arg1927Leu) rs730880152 0.00003
NM_004387.4(NKX2-5):c.334+19C>T rs755215586 0.00003
NM_004387.4(NKX2-5):c.356C>A (p.Ala119Glu) rs369025518 0.00003
NM_004387.4(NKX2-5):c.827C>G (p.Ala276Gly) rs751564052 0.00003
NM_005159.5(ACTC1):c.616+6T>C rs574862389 0.00003
NM_001077653.2(TBX20):c.1036C>G (p.Leu346Val) rs768158277 0.00002
NM_002471.4(MYH6):c.1042G>A (p.Ala348Thr) rs1002843684 0.00002
NM_002471.4(MYH6):c.1210C>T (p.Arg404Trp) rs1271657601 0.00002
NM_002471.4(MYH6):c.1325C>T (p.Thr442Met) rs757040426 0.00002
NM_002471.4(MYH6):c.1520T>C (p.Ile507Thr) rs188023690 0.00002
NM_002471.4(MYH6):c.1535T>C (p.Ile512Thr) rs397516756 0.00002
NM_002471.4(MYH6):c.160C>T (p.Arg54Trp) rs369366244 0.00002
NM_002471.4(MYH6):c.1822G>A (p.Ala608Thr) rs886050409 0.00002
NM_002471.4(MYH6):c.212T>C (p.Val71Ala) rs769686237 0.00002
NM_002471.4(MYH6):c.2189T>C (p.Val730Ala) rs763963623 0.00002
NM_002471.4(MYH6):c.244C>T (p.Pro82Ser) rs754260713 0.00002
NM_002471.4(MYH6):c.2533G>A (p.Ala845Thr) rs989813600 0.00002
NM_002471.4(MYH6):c.2605G>A (p.Glu869Lys) rs774144472 0.00002
NM_002471.4(MYH6):c.3135G>T (p.Lys1045Asn) rs758449996 0.00002
NM_002471.4(MYH6):c.3481G>A (p.Val1161Met) rs762230455 0.00002
NM_002471.4(MYH6):c.3575C>T (p.Ala1192Val) rs765797952 0.00002
NM_002471.4(MYH6):c.3697G>A (p.Val1233Ile) rs144761217 0.00002
NM_002471.4(MYH6):c.4084G>A (p.Val1362Ile) rs768398107 0.00002
NM_002471.4(MYH6):c.409G>A (p.Glu137Lys) rs752658033 0.00002
NM_002471.4(MYH6):c.4151G>A (p.Arg1384Gln) rs139265690 0.00002
NM_002471.4(MYH6):c.4192C>T (p.Arg1398Trp) rs374022661 0.00002
NM_002471.4(MYH6):c.4438A>G (p.Ser1480Gly) rs930701630 0.00002
NM_002471.4(MYH6):c.4624C>A (p.Leu1542Met) rs750721562 0.00002
NM_002471.4(MYH6):c.4793C>T (p.Ser1598Leu) rs536807961 0.00002
NM_002471.4(MYH6):c.481G>A (p.Ala161Thr) rs754736798 0.00002
NM_002471.4(MYH6):c.485A>G (p.Tyr162Cys) rs397516772 0.00002
NM_002471.4(MYH6):c.4918G>A (p.Glu1640Lys) rs748924413 0.00002
NM_002471.4(MYH6):c.5135G>T (p.Ser1712Ile) rs201383498 0.00002
NM_002471.4(MYH6):c.5341C>A (p.Leu1781Met) rs747585087 0.00002
NM_002471.4(MYH6):c.5660C>T (p.Ala1887Val) rs767096302 0.00002
NM_002471.4(MYH6):c.5695C>T (p.Arg1899Cys) rs371607892 0.00002
NM_002471.4(MYH6):c.5696G>A (p.Arg1899His) rs61731171 0.00002
NM_002471.4(MYH6):c.5794A>T (p.Lys1932Ter) rs763914096 0.00002
NM_002471.4(MYH6):c.704A>G (p.Lys235Arg) rs544293019 0.00002
NM_002471.4(MYH6):c.934G>A (p.Ala312Thr) rs748143404 0.00002
NM_004387.4(NKX2-5):c.13C>T (p.Pro5Ser) rs769233111 0.00002
NM_004387.4(NKX2-5):c.257T>C (p.Phe86Ser) rs373807012 0.00002
NM_004387.4(NKX2-5):c.510G>C (p.Gln170His) rs1489743522 0.00002
NM_004387.4(NKX2-5):c.605T>C (p.Leu202Pro) rs768499098 0.00002
NM_004387.4(NKX2-5):c.650G>A (p.Arg217Lys) rs751684900 0.00002
NM_004387.4(NKX2-5):c.887G>A (p.Gly296Asp) rs373421818 0.00002
NM_004387.4(NKX2-5):c.943G>T (p.Val315Leu) rs201249977 0.00002
NM_005159.5(ACTC1):c.-36C>G rs886051091 0.00002
NM_005159.5(ACTC1):c.19A>T (p.Thr7Ser) rs746748461 0.00002
NM_005159.5(ACTC1):c.217A>G (p.Ile73Val) rs750951965 0.00002
NM_005257.6(GATA6):c.367A>G (p.Thr123Ala) rs1194141406 0.00002
NM_000540.3(RYR1):c.8290G>A (p.Glu2764Lys) rs193922829 0.00001
NM_001077653.2(TBX20):c.1046G>C (p.Trp349Ser) rs748900621 0.00001
NM_001077653.2(TBX20):c.395C>T (p.Thr132Ile) rs200630726 0.00001
NM_001077653.2(TBX20):c.413C>T (p.Ser138Leu) rs778902854 0.00001
NM_001077653.2(TBX20):c.456C>G (p.Ile152Met) rs137852954 0.00001
NM_001077653.2(TBX20):c.493C>T (p.His165Tyr) rs370219446 0.00001
NM_001077653.2(TBX20):c.4G>A (p.Glu2Lys) rs752468331 0.00001
NM_001077653.2(TBX20):c.533C>T (p.Pro178Leu) rs760169368 0.00001
NM_001308093.3(GATA4):c.1149G>A (p.Gln383=) rs751950851 0.00001
NM_001308093.3(GATA4):c.1240C>G (p.Pro414Ala) rs1217555878 0.00001
NM_001308093.3(GATA4):c.263G>T (p.Gly88Val) rs980402710 0.00001
NM_002471.4(MYH6):c.1373T>C (p.Ile458Thr) rs774807696 0.00001
NM_002471.4(MYH6):c.1411-12T>C rs749244720 0.00001
NM_002471.4(MYH6):c.1492G>A (p.Glu498Lys) rs375142167 0.00001
NM_002471.4(MYH6):c.1523A>T (p.Glu508Val) rs1017557276 0.00001
NM_002471.4(MYH6):c.1578G>C (p.Glu526Asp) rs753062079 0.00001
NM_002471.4(MYH6):c.1726G>A (p.Ala576Thr) rs1488705293 0.00001
NM_002471.4(MYH6):c.1791A>T (p.Lys597Asn) rs1252826013 0.00001
NM_002471.4(MYH6):c.182C>T (p.Ala61Val) rs730880148 0.00001
NM_002471.4(MYH6):c.1961G>A (p.Arg654Gln) rs763585076 0.00001
NM_002471.4(MYH6):c.2044G>T (p.Ala682Ser) rs927752391 0.00001
NM_002471.4(MYH6):c.2051-1G>A rs773772551 0.00001
NM_002471.4(MYH6):c.2086C>T (p.Arg696Cys) rs778886029 0.00001
NM_002471.4(MYH6):c.2169-8C>T rs1006825673 0.00001
NM_002471.4(MYH6):c.2292+1G>A rs771569935 0.00001
NM_002471.4(MYH6):c.2576G>C (p.Gly859Ala) rs779528748 0.00001
NM_002471.4(MYH6):c.2684C>T (p.Ala895Val) rs1372933415 0.00001
NM_002471.4(MYH6):c.2980C>A (p.Leu994Met) rs727503238 0.00001
NM_002471.4(MYH6):c.3140G>A (p.Arg1047His) rs775843647 0.00001
NM_002471.4(MYH6):c.3220G>A (p.Asp1074Asn) rs375169402 0.00001
NM_002471.4(MYH6):c.3316C>A (p.Leu1106Ile) rs1595055372 0.00001
NM_002471.4(MYH6):c.3584G>A (p.Arg1195His) rs747891865 0.00001
NM_002471.4(MYH6):c.3758C>T (p.Thr1253Met) rs201051663 0.00001
NM_002471.4(MYH6):c.3838G>A (p.Ala1280Thr) rs762102758 0.00001
NM_002471.4(MYH6):c.3871C>T (p.Arg1291Trp) rs1372245953 0.00001
NM_002471.4(MYH6):c.3902C>T (p.Ser1301Leu) rs767570086 0.00001
NM_002471.4(MYH6):c.4300G>A (p.Val1434Ile) rs397516769 0.00001
NM_002471.4(MYH6):c.4307G>A (p.Arg1436His) rs142556730 0.00001
NM_002471.4(MYH6):c.4349A>C (p.Asn1450Thr) rs1005724382 0.00001
NM_002471.4(MYH6):c.4369G>A (p.Glu1457Lys) rs267606905 0.00001
NM_002471.4(MYH6):c.4394C>T (p.Ser1465Leu) rs766327056 0.00001
NM_002471.4(MYH6):c.4396C>G (p.Gln1466Glu) rs773067289 0.00001
NM_002471.4(MYH6):c.4471G>A (p.Glu1491Lys) rs1314169075 0.00001
NM_002471.4(MYH6):c.4713G>T (p.Lys1571Asn) rs730880151 0.00001
NM_002471.4(MYH6):c.4823G>A (p.Arg1608His) rs747494958 0.00001
NM_002471.4(MYH6):c.4874A>G (p.Asn1625Ser) rs776765616 0.00001
NM_002471.4(MYH6):c.493A>T (p.Met165Leu) rs972242173 0.00001
NM_002471.4(MYH6):c.5071C>T (p.Arg1691Cys) rs745747137 0.00001
NM_002471.4(MYH6):c.5072G>A (p.Arg1691His) rs727504502 0.00001
NM_002471.4(MYH6):c.5278G>A (p.Ala1760Thr) rs146539406 0.00001
NM_002471.4(MYH6):c.5297T>C (p.Met1766Thr) rs760667847 0.00001
NM_002471.4(MYH6):c.5459G>A (p.Arg1820Gln) rs371222772 0.00001
NM_002471.4(MYH6):c.5481G>C (p.Glu1827Asp) rs760865481 0.00001
NM_002471.4(MYH6):c.5540G>A (p.Arg1847Gln) rs767679378 0.00001
NM_002471.4(MYH6):c.5797-2A>G rs751748384 0.00001
NM_002471.4(MYH6):c.68G>A (p.Arg23His) rs771786844 0.00001
NM_002471.4(MYH6):c.71T>C (p.Leu24Pro) rs1320990570 0.00001
NM_002471.4(MYH6):c.779C>T (p.Ala260Val) rs1470827277 0.00001
NM_004387.4(NKX2-5):c.111G>A (p.Leu37=) rs746594822 0.00001
NM_004387.4(NKX2-5):c.169G>T (p.Ala57Ser) rs549161381 0.00001
NM_004387.4(NKX2-5):c.223C>G (p.Arg75Gly) rs1216673146 0.00001
NM_004387.4(NKX2-5):c.236C>G (p.Pro79Arg) rs777921797 0.00001
NM_004387.4(NKX2-5):c.284G>T (p.Arg95Leu) rs763729448 0.00001
NM_004387.4(NKX2-5):c.295G>T (p.Asp99Tyr) rs1761431105 0.00001
NM_004387.4(NKX2-5):c.344C>T (p.Ala115Val) rs529610517 0.00001
NM_004387.4(NKX2-5):c.385A>G (p.Asn129Asp) rs758000160 0.00001
NM_004387.4(NKX2-5):c.395G>C (p.Arg132Pro) rs754394393 0.00001
NM_004387.4(NKX2-5):c.448G>A (p.Val150Ile) rs201582515 0.00001
NM_004387.4(NKX2-5):c.466C>T (p.Arg156Cys) rs1310163851 0.00001
NM_004387.4(NKX2-5):c.521T>G (p.Val174Gly) rs1761356979 0.00001
NM_004387.4(NKX2-5):c.553T>C (p.Trp185Arg) rs1761355968 0.00001
NM_004387.4(NKX2-5):c.655G>A (p.Ala219Thr) rs760305842 0.00001
NM_004387.4(NKX2-5):c.656C>T (p.Ala219Val) rs104893902 0.00001
NM_004387.4(NKX2-5):c.706C>T (p.Pro236Ser) rs770192204 0.00001
NM_004387.4(NKX2-5):c.727G>A (p.Val243Met) rs781370140 0.00001
NM_004387.4(NKX2-5):c.772G>A (p.Gly258Ser) rs772889193 0.00001
NM_004387.4(NKX2-5):c.826G>A (p.Ala276Thr) rs1425022333 0.00001
NM_004387.4(NKX2-5):c.842C>A (p.Ala281Glu) rs1206339157 0.00001
NM_004387.4(NKX2-5):c.869A>G (p.Asn290Ser) rs936204422 0.00001
NM_004387.4(NKX2-5):c.893G>A (p.Gly298Glu) rs549406766 0.00001
NM_004387.4(NKX2-5):c.89C>A (p.Ala30Asp) rs1425683417 0.00001
NM_004387.4(NKX2-5):c.907G>T (p.Val303Phe) rs772495396 0.00001
NM_004387.4(NKX2-5):c.91G>A (p.Gly31Arg) rs1360215151 0.00001
NM_004387.4(NKX2-5):c.956A>G (p.His319Arg) rs1196710127 0.00001
NM_004387.4(NKX2-5):c.96G>C (p.Glu32Asp) rs776310516 0.00001
NM_005159.4(ACTC1):c.*1090A>G rs886051070 0.00001
NM_005159.4(ACTC1):c.-109C>A rs886051097 0.00001
NM_005159.5(ACTC1):c.1085A>C (p.Gln362Pro) rs375435815 0.00001
NM_005159.5(ACTC1):c.1099G>A (p.Ala367Thr) rs370256882 0.00001
NM_005159.5(ACTC1):c.129G>A (p.Gln43=) rs878854753 0.00001
NM_005159.5(ACTC1):c.268C>T (p.His90Tyr) rs121912676 0.00001
NM_005159.5(ACTC1):c.289C>T (p.Arg97Cys) rs759495229 0.00001
NM_005159.5(ACTC1):c.311C>T (p.Pro104Leu) rs1405829098 0.00001
NM_005159.5(ACTC1):c.454+5G>C rs756249146 0.00001
NM_005159.5(ACTC1):c.455-6G>A rs1359050330 0.00001
NM_005159.5(ACTC1):c.5G>A (p.Cys2Tyr) rs1469206760 0.00001
NM_005159.5(ACTC1):c.622C>T (p.Arg208Cys) rs727505179 0.00001
NM_005159.5(ACTC1):c.886T>C (p.Tyr296His) rs730880402 0.00001
NM_005159.5(ACTC1):c.967G>A (p.Ala323Thr) rs771011464 0.00001
NM_006494.4(ERF):c.1636C>T (p.Arg546Ter) rs764412749 0.00001
NM_015311.3(OBSL1):c.3341G>A (p.Trp1114Ter) rs560246798 0.00001
46;XX;inv(14)(q24.1q32.1)dn
46;XY;t(16;20)(q11.2;q13.2)dn
46;XY;t(18;20)(q21.1;p11.23)dn
GRCh37/hg19 10q25.3-26.12(chr10:118891670-122349064)x1
GRCh37/hg19 15q12(chr15:27462869-27544157)
GRCh37/hg19 7q34(chr7:139478979-139550968)
NC_000005.9:g.(?_172659552)_(172672303_?)dup
NC_000015.10:g.(?_34788628)_(34794818_?)dup
NC_000015.9:g.(?_34526082)_(35087009_?)del
NC_000015.9:g.(?_35080829)_(35087019_?)del
NC_000015.9:g.(?_35082593)_(35087029_?)dup
NM_000393.5(COL5A2):c.1842G>A (p.Met614Ile) rs1559085751
NM_001077653.2(TBX20):c.-517C>T rs483353001
NM_001077653.2(TBX20):c.1003+129T>C rs483353008
NM_001077653.2(TBX20):c.1003+99C>T rs483353007
NM_001077653.2(TBX20):c.1108A>C (p.Thr370Pro) rs483352998
NM_001077653.2(TBX20):c.1124T>C (p.Ile375Thr)
NM_001077653.2(TBX20):c.117C>G (p.Ile39Met) rs1562569196
NM_001077653.2(TBX20):c.1184T>G (p.Met395Arg) rs483352999
NM_001077653.2(TBX20):c.1189C>T (p.Leu397=) rs483353003
NM_001077653.2(TBX20):c.1356A>T rs483353000
NM_001077653.2(TBX20):c.1357T>A rs483353004
NM_001077653.2(TBX20):c.1392T>A rs483353005
NM_001077653.2(TBX20):c.546-1224dup rs483353006
NM_001077653.2(TBX20):c.655-18C>T rs483353009
NM_001077653.2(TBX20):c.657A>C (p.Ile219=) rs483353002
NM_001077653.2(TBX20):c.818C>T (p.Thr273Met) rs1554286367
NM_001077653.2(TBX20):c.925T>G (p.Tyr309Asp) rs111862418
NM_001256071.3(RNF213):c.11659A>G (p.Lys3887Glu) rs1555673862
NM_001308093.3(GATA4):c.1315G>A (p.Asp439Asn) rs149351193
NM_001308093.3(GATA4):c.786+16G>T rs200555437
NM_001308093.3(GATA4):c.841A>T (p.Thr281Ser) rs1356876573
NM_001308093.3(GATA4):c.854_856del (p.Arg285_Asn286delinsHis)
NM_002430.3(MN1):c.3839del (p.Cys1280fs) rs1601319594
NM_002471.4(MYH6):c.1002+1G>T rs776627067
NM_002471.4(MYH6):c.1007C>G (p.Ala336Gly) rs138572790
NM_002471.4(MYH6):c.1100A>T (p.Gln367Leu) rs2138615086
NM_002471.4(MYH6):c.1138G>A (p.Glu380Lys) rs768924353
NM_002471.4(MYH6):c.1141+2T>C
NM_002471.4(MYH6):c.1185C>A (p.Asp395Glu) rs201822160
NM_002471.4(MYH6):c.1408G>A (p.Asp470Asn) rs777651128
NM_002471.4(MYH6):c.1521T>G (p.Ile507Met) rs142410102
NM_002471.4(MYH6):c.1793dup (p.Asn598fs) rs774500922
NM_002471.4(MYH6):c.1868C>T (p.Ser623Phe) rs764362016
NM_002471.4(MYH6):c.201G>C (p.Lys67Asn) rs757559746
NM_002471.4(MYH6):c.2051-2A>G rs2138604704
NM_002471.4(MYH6):c.2293-2A>C rs2138603387
NM_002471.4(MYH6):c.2428A>G (p.Arg810Gly) rs1060501428
NM_002471.4(MYH6):c.2440C>A (p.Leu814Met) rs150675144
NM_002471.4(MYH6):c.2575G>T (p.Gly859Trp) rs369274077
NM_002471.4(MYH6):c.2578C>T (p.Arg860Cys) rs1025146248
NM_002471.4(MYH6):c.2717G>A (p.Arg906His) rs527636904
NM_002471.4(MYH6):c.2878G>A (p.Glu960Lys) rs1595056419
NM_002471.4(MYH6):c.325T>C (p.Tyr109His) rs926609805
NM_002471.4(MYH6):c.3346C>T (p.Arg1116Cys) rs372446459
NM_002471.4(MYH6):c.3447C>T (p.Ser1149=) rs564367705
NM_002471.4(MYH6):c.3541G>C (p.Glu1181Gln) rs1033416176
NM_002471.4(MYH6):c.3562G>A (p.Glu1188Lys) rs767223211
NM_002471.4(MYH6):c.3578C>T (p.Ala1193Val) rs1038940910
NM_002471.4(MYH6):c.3946G>A (p.Asp1316Asn)
NM_002471.4(MYH6):c.3979-8del rs193922652
NM_002471.4(MYH6):c.3979-8dup rs193922652
NM_002471.4(MYH6):c.3979-9_3979-7delinsGC rs796876119
NM_002471.4(MYH6):c.427C>T (p.Arg143Trp) rs2277473
NM_002471.4(MYH6):c.4318G>C (p.Ala1440Pro) rs137983703
NM_002471.4(MYH6):c.4395_4396delinsAG (p.Gln1466Glu) rs1555333437
NM_002471.4(MYH6):c.4429C>T (p.Arg1477Cys) rs201989347
NM_002471.4(MYH6):c.4496C>A (p.Thr1499Asn) rs2138587576
NM_002471.4(MYH6):c.4685G>T (p.Arg1562Leu) rs371068881
NM_002471.4(MYH6):c.478A>G (p.Asn160Asp)
NM_002471.4(MYH6):c.5002G>C (p.Asp1668His) rs200884672
NM_002471.4(MYH6):c.5392C>T (p.Arg1798Trp) rs767251436
NM_002471.4(MYH6):c.5452G>C (p.Glu1818Gln) rs201494081
NM_002471.4(MYH6):c.5555T>C (p.Leu1852Pro) rs2138581208
NM_002471.4(MYH6):c.5628G>T (p.Lys1876Asn) rs1390751455
NM_002471.4(MYH6):c.5662-2A>G rs2138578417
NM_002471.4(MYH6):c.5692T>G (p.Phe1898Val) rs762923098
NM_002471.4(MYH6):c.569G>A (p.Arg190His) rs1891729151
NM_002471.4(MYH6):c.616AAG[1] (p.Lys207del) rs1404018896
NM_002471.4(MYH6):c.675C>T (p.Asn225=) rs886050413
NM_002471.4(MYH6):c.694G>A (p.Gly232Ser) rs587782960
NM_002471.4(MYH6):c.730C>T (p.Arg244Cys) rs759116118
NM_002471.4(MYH6):c.864C>G (p.Tyr288Ter) rs186265521
NM_004387.4(NKX2-5):c.107G>A (p.Arg36His)
NM_004387.4(NKX2-5):c.10A>G (p.Ser4Gly)
NM_004387.4(NKX2-5):c.116C>G (p.Ala39Gly) rs1234717083
NM_004387.4(NKX2-5):c.124G>A (p.Ala42Thr)
NM_004387.4(NKX2-5):c.125C>T (p.Ala42Val) rs1761439619
NM_004387.4(NKX2-5):c.133T>C (p.Ser45Pro)
NM_004387.4(NKX2-5):c.143T>C (p.Leu48Pro)
NM_004387.4(NKX2-5):c.14C>G (p.Pro5Arg)
NM_004387.4(NKX2-5):c.156G>T (p.Lys52Asn)
NM_004387.4(NKX2-5):c.167A>G (p.Tyr56Cys) rs1360861650
NM_004387.4(NKX2-5):c.169G>C (p.Ala57Pro)
NM_004387.4(NKX2-5):c.178G>A (p.Glu60Lys)
NM_004387.4(NKX2-5):c.178G>C (p.Glu60Gln) rs766199339
NM_004387.4(NKX2-5):c.182C>T (p.Ala61Val)
NM_004387.4(NKX2-5):c.200C>T (p.Pro67Leu) rs2113906300
NM_004387.4(NKX2-5):c.206T>G (p.Leu69Arg) rs1032793565
NM_004387.4(NKX2-5):c.211G>C (p.Ala71Pro)
NM_004387.4(NKX2-5):c.224G>T (p.Arg75Leu) rs1363174603
NM_004387.4(NKX2-5):c.227C>A (p.Ala76Glu)
NM_004387.4(NKX2-5):c.229C>T (p.Pro77Ser) rs771593440
NM_004387.4(NKX2-5):c.236C>A (p.Pro79Gln)
NM_004387.4(NKX2-5):c.23C>G (p.Thr8Arg)
NM_004387.4(NKX2-5):c.241A>G (p.Lys81Glu) rs904474688
NM_004387.4(NKX2-5):c.248C>G (p.Ala83Gly) rs1182777346
NM_004387.4(NKX2-5):c.259C>T (p.Pro87Ser)
NM_004387.4(NKX2-5):c.265G>C (p.Ala89Pro) rs1761432750
NM_004387.4(NKX2-5):c.266C>A (p.Ala89Asp) rs2113905976
NM_004387.4(NKX2-5):c.274T>G (p.Phe92Val)
NM_004387.4(NKX2-5):c.280C>T (p.Pro94Ser) rs1009994744
NM_004387.4(NKX2-5):c.283C>G (p.Arg95Gly)
NM_004387.4(NKX2-5):c.287C>T (p.Ala96Val) rs760088847
NM_004387.4(NKX2-5):c.298C>A (p.Pro100Thr) rs550046293
NM_004387.4(NKX2-5):c.299C>T (p.Pro100Leu)
NM_004387.4(NKX2-5):c.302A>G (p.Asp101Gly)
NM_004387.4(NKX2-5):c.302A>T (p.Asp101Val)
NM_004387.4(NKX2-5):c.322G>A (p.Ala108Thr)
NM_004387.4(NKX2-5):c.323C>T (p.Ala108Val) rs1581111049
NM_004387.4(NKX2-5):c.325G>A (p.Glu109Lys)
NM_004387.4(NKX2-5):c.335-3C>T
NM_004387.4(NKX2-5):c.335-7C>G rs937339110
NM_004387.4(NKX2-5):c.340T>G (p.Cys114Gly)
NM_004387.4(NKX2-5):c.342C>G (p.Cys114Trp) rs760723447
NM_004387.4(NKX2-5):c.343G>C (p.Ala115Pro)
NM_004387.4(NKX2-5):c.356C>T (p.Ala119Val) rs369025518
NM_004387.4(NKX2-5):c.367G>A (p.Glu123Lys)
NM_004387.4(NKX2-5):c.377A>C (p.Glu126Ala) rs1320947604
NM_004387.4(NKX2-5):c.380C>G (p.Ala127Gly)
NM_004387.4(NKX2-5):c.385A>T (p.Asn129Tyr)
NM_004387.4(NKX2-5):c.387C>A (p.Asn129Lys) rs750029908
NM_004387.4(NKX2-5):c.400C>G (p.Arg134Gly)
NM_004387.4(NKX2-5):c.400C>T (p.Arg134Trp) rs1248623506
NM_004387.4(NKX2-5):c.401G>A (p.Arg134Gln)
NM_004387.4(NKX2-5):c.416G>A (p.Arg139Lys)
NM_004387.4(NKX2-5):c.421C>G (p.Pro141Ala) rs774627537
NM_004387.4(NKX2-5):c.425G>A (p.Arg142His) rs2113902000
NM_004387.4(NKX2-5):c.430C>T (p.Leu144Phe) rs1431464297
NM_004387.4(NKX2-5):c.431T>C (p.Leu144Pro) rs747932354
NM_004387.4(NKX2-5):c.447G>C (p.Gln149His) rs1230869762
NM_004387.4(NKX2-5):c.464G>C (p.Arg155Pro) rs1018993104
NM_004387.4(NKX2-5):c.467G>A (p.Arg156His) rs2113901836
NM_004387.4(NKX2-5):c.46G>A (p.Asp16Asn) rs750904275
NM_004387.4(NKX2-5):c.473A>G (p.Lys158Arg) rs1761358755
NM_004387.4(NKX2-5):c.475C>G (p.Gln159Glu)
NM_004387.4(NKX2-5):c.477G>C (p.Gln159His)
NM_004387.4(NKX2-5):c.477G>T (p.Gln159His)
NM_004387.4(NKX2-5):c.481C>G (p.Arg161Gly) rs2113901789
NM_004387.4(NKX2-5):c.484T>A (p.Tyr162Asn)
NM_004387.4(NKX2-5):c.494C>A (p.Ala165Asp) rs984722259
NM_004387.4(NKX2-5):c.494C>G (p.Ala165Gly)
NM_004387.4(NKX2-5):c.499G>A (p.Glu167Lys) rs1761357696
NM_004387.4(NKX2-5):c.506A>G (p.Asp169Gly)
NM_004387.4(NKX2-5):c.512T>A (p.Leu171Gln)
NM_004387.4(NKX2-5):c.514G>A (p.Ala172Thr) rs878854704
NM_004387.4(NKX2-5):c.520G>A (p.Val174Met)
NM_004387.4(NKX2-5):c.524T>C (p.Leu175Pro) rs1761356915
NM_004387.4(NKX2-5):c.548A>G (p.Lys183Arg) rs2113901612
NM_004387.4(NKX2-5):c.548_556del (p.Lys183_Phe186delinsIle)
NM_004387.4(NKX2-5):c.549G>C (p.Lys183Asn)
NM_004387.4(NKX2-5):c.550A>C (p.Ile184Leu)
NM_004387.4(NKX2-5):c.551T>A (p.Ile184Asn)
NM_004387.4(NKX2-5):c.559C>G (p.Gln187Glu)
NM_004387.4(NKX2-5):c.563A>C (p.Asn188Thr) rs2113901591
NM_004387.4(NKX2-5):c.565C>T (p.Arg189Trp) rs759647212
NM_004387.4(NKX2-5):c.566G>A (p.Arg189Gln) rs786205824
NM_004387.4(NKX2-5):c.566G>C (p.Arg189Pro) rs786205824
NM_004387.4(NKX2-5):c.568C>T (p.Arg190Cys) rs104893906
NM_004387.4(NKX2-5):c.578G>A (p.Cys193Tyr)
NM_004387.4(NKX2-5):c.583CGGCAG[1] (p.195RQ[1])
NM_004387.4(NKX2-5):c.584G>C (p.Arg195Pro)
NM_004387.4(NKX2-5):c.590G>C (p.Arg197Pro) rs774482632
NM_004387.4(NKX2-5):c.597C>A (p.Asp199Glu)
NM_004387.4(NKX2-5):c.59T>C (p.Leu20Pro) rs1471444031
NM_004387.4(NKX2-5):c.608A>G (p.Glu203Gly) rs771533553
NM_004387.4(NKX2-5):c.608_616dup (p.Glu203_Val205dup) rs1302021340
NM_004387.4(NKX2-5):c.613G>A (p.Val205Met)
NM_004387.4(NKX2-5):c.622C>T (p.Pro208Ser)
NM_004387.4(NKX2-5):c.624_632del (p.Pro212_Pro214del) rs1761352648
NM_004387.4(NKX2-5):c.627GCC[3] (p.Pro213_Pro214del) rs746833511
NM_004387.4(NKX2-5):c.627GCC[6] (p.Pro214dup) rs746833511
NM_004387.4(NKX2-5):c.627GCC[7] (p.Pro213_Pro214dup) rs746833511
NM_004387.4(NKX2-5):c.629C>G (p.Pro210Arg)
NM_004387.4(NKX2-5):c.635C>G (p.Pro212Arg) rs372282873
NM_004387.4(NKX2-5):c.637C>G (p.Pro213Ala) rs1250491634
NM_004387.4(NKX2-5):c.641C>T (p.Pro214Leu)
NM_004387.4(NKX2-5):c.646C>T (p.Arg216Cys) rs104893905
NM_004387.4(NKX2-5):c.649A>G (p.Arg217Gly)
NM_004387.4(NKX2-5):c.64C>G (p.Gln22Glu)
NM_004387.4(NKX2-5):c.658G>A (p.Val220Met)
NM_004387.4(NKX2-5):c.65A>C (p.Gln22Pro) rs201442000
NM_004387.4(NKX2-5):c.662C>T (p.Pro221Leu) rs1554093444
NM_004387.4(NKX2-5):c.671T>C (p.Val224Ala) rs2113901297
NM_004387.4(NKX2-5):c.676G>A (p.Asp226Asn) rs760528062
NM_004387.4(NKX2-5):c.685C>A (p.Pro229Thr)
NM_004387.4(NKX2-5):c.685C>G (p.Pro229Ala) rs2113901265
NM_004387.4(NKX2-5):c.701C>G (p.Ser234Trp)
NM_004387.4(NKX2-5):c.701C>T (p.Ser234Leu)
NM_004387.4(NKX2-5):c.704C>T (p.Ala235Val)
NM_004387.4(NKX2-5):c.709T>C (p.Tyr237His) rs1761349696
NM_004387.4(NKX2-5):c.713C>T (p.Ala238Val)
NM_004387.4(NKX2-5):c.724G>A (p.Gly242Ser) rs867226708
NM_004387.4(NKX2-5):c.724G>C (p.Gly242Arg) rs867226708
NM_004387.4(NKX2-5):c.730G>A (p.Gly244Ser)
NM_004387.4(NKX2-5):c.733C>G (p.Leu245Val) rs1761348880
NM_004387.4(NKX2-5):c.733C>T (p.Leu245Phe)
NM_004387.4(NKX2-5):c.737A>G (p.Asn246Ser)
NM_004387.4(NKX2-5):c.739C>G (p.Pro247Ala)
NM_004387.4(NKX2-5):c.743A>G (p.Tyr248Cys) rs1131691343
NM_004387.4(NKX2-5):c.751A>G (p.Asn251Asp)
NM_004387.4(NKX2-5):c.752A>G (p.Asn251Ser) rs1327849028
NM_004387.4(NKX2-5):c.763G>A (p.Ala255Thr) rs759518211
NM_004387.4(NKX2-5):c.776A>T (p.Tyr259Phe)
NM_004387.4(NKX2-5):c.799G>A (p.Gly267Ser) rs780688010
NM_004387.4(NKX2-5):c.799G>C (p.Gly267Arg)
NM_004387.4(NKX2-5):c.817G>C (p.Ala273Pro)
NM_004387.4(NKX2-5):c.822C>A (p.Tyr274Ter)
NM_004387.4(NKX2-5):c.823C>T (p.Pro275Ser) rs368366482
NM_004387.4(NKX2-5):c.824C>T (p.Pro275Leu) rs1060503097
NM_004387.4(NKX2-5):c.829G>C (p.Gly277Arg) rs772729751
NM_004387.4(NKX2-5):c.829G>T (p.Gly277Trp) rs772729751
NM_004387.4(NKX2-5):c.833C>T (p.Pro278Leu) rs2113900895
NM_004387.4(NKX2-5):c.841G>A (p.Ala281Thr)
NM_004387.4(NKX2-5):c.842C>T (p.Ala281Val)
NM_004387.4(NKX2-5):c.847C>G (p.Pro283Ala) rs2113900851
NM_004387.4(NKX2-5):c.847_849dup (p.Pro283dup) rs747608855
NM_004387.4(NKX2-5):c.848C>G (p.Pro283Arg)
NM_004387.4(NKX2-5):c.848C>T (p.Pro283Leu)
NM_004387.4(NKX2-5):c.851C>T (p.Ala284Val) rs1761344289
NM_004387.4(NKX2-5):c.862G>A (p.Ala288Thr)
NM_004387.4(NKX2-5):c.865AAC[2] (p.Asn291del) rs756974215
NM_004387.4(NKX2-5):c.871A>T (p.Asn291Tyr)
NM_004387.4(NKX2-5):c.872A>C (p.Asn291Thr) rs1318592912
NM_004387.4(NKX2-5):c.885C>A (p.Phe295Leu) rs150581386
NM_004387.4(NKX2-5):c.886G>A (p.Gly296Ser) rs1358735679
NM_004387.4(NKX2-5):c.886G>T (p.Gly296Cys) rs1358735679
NM_004387.4(NKX2-5):c.889G>T (p.Val297Phe) rs569535312
NM_004387.4(NKX2-5):c.88G>A (p.Ala30Thr) rs1304644050
NM_004387.4(NKX2-5):c.922A>G (p.Ile308Val) rs2113900634
NM_004387.4(NKX2-5):c.923T>C (p.Ile308Thr)
NM_004387.4(NKX2-5):c.926C>T (p.Pro309Leu)
NM_004387.4(NKX2-5):c.931A>C (p.Ser311Arg)
NM_004387.4(NKX2-5):c.932G>A (p.Ser311Asn)
NM_004387.4(NKX2-5):c.940G>T (p.Gly314Ter) rs1761340979
NM_004387.4(NKX2-5):c.941G>A (p.Gly314Glu)
NM_004387.4(NKX2-5):c.947C>A (p.Ser316Tyr)
NM_004387.4(NKX2-5):c.950C>T (p.Thr317Met) rs2113900561
NM_004387.4(NKX2-5):c.952_953delinsGC (p.Leu318Ala) rs1581107775
NM_004387.4(NKX2-5):c.957T>A (p.His319Gln)
NM_004387.4(NKX2-5):c.968C>G (p.Ala323Gly) rs1188394387
NM_005159.4(ACTC1):c.*1062G>A rs886051072
NM_005159.4(ACTC1):c.*1070A>C rs886051071
NM_005159.4(ACTC1):c.*1115A>T rs886051069
NM_005159.4(ACTC1):c.*1482G>T rs886051066
NM_005159.4(ACTC1):c.*1502G>T rs886051065
NM_005159.4(ACTC1):c.*1753G>T rs886051064
NM_005159.4(ACTC1):c.*1797C>A rs886051063
NM_005159.4(ACTC1):c.*2168G>T rs886051061
NM_005159.4(ACTC1):c.*224G>C rs551820554
NM_005159.4(ACTC1):c.*247G>A rs886051088
NM_005159.4(ACTC1):c.*284G>A rs886051087
NM_005159.4(ACTC1):c.*307T>A rs886051086
NM_005159.4(ACTC1):c.*388G>C rs1370154
NM_005159.4(ACTC1):c.*422T>A rs886051084
NM_005159.4(ACTC1):c.*561C>A rs886051083
NM_005159.4(ACTC1):c.*643C>A rs886051081
NM_005159.4(ACTC1):c.*646C>A rs886051080
NM_005159.4(ACTC1):c.*674C>A rs886051079
NM_005159.4(ACTC1):c.*708G>T rs886051077
NM_005159.4(ACTC1):c.*739G>T rs886051076
NM_005159.4(ACTC1):c.*775C>A rs886051075
NM_005159.4(ACTC1):c.*935G>T rs766542832
NM_005159.4(ACTC1):c.-101G>T rs886051095
NM_005159.4(ACTC1):c.-105C>A rs886051096
NM_005159.4(ACTC1):c.-175C>A rs886051098
NM_005159.4(ACTC1):c.-194C>A rs886051099
NM_005159.5(ACTC1):c.-55C>A rs886051093
NM_005159.5(ACTC1):c.-55CCG[3] rs886051092
NM_005159.5(ACTC1):c.101C>A (p.Pro34Gln) rs1373760624
NM_005159.5(ACTC1):c.101C>G (p.Pro34Arg) rs1373760624
NM_005159.5(ACTC1):c.1029del (p.Ile343fs) rs2140429044
NM_005159.5(ACTC1):c.1034G>C (p.Gly345Ala)
NM_005159.5(ACTC1):c.1034del (p.Gly345fs) rs2140429038
NM_005159.5(ACTC1):c.103T>G (p.Ser35Ala) rs1595761987
NM_005159.5(ACTC1):c.1063C>T (p.Gln355Ter)
NM_005159.5(ACTC1):c.1067A>G (p.Gln356Arg) rs2140428997
NM_005159.5(ACTC1):c.1070T>C (p.Met357Thr)
NM_005159.5(ACTC1):c.1079G>A (p.Ser360Asn)
NM_005159.5(ACTC1):c.1081A>G (p.Lys361Glu) rs1595759946
NM_005159.5(ACTC1):c.1088A>G (p.Glu363Gly) rs121912674
NM_005159.5(ACTC1):c.108C>G (p.Ile36Met)
NM_005159.5(ACTC1):c.1090T>A (p.Tyr364Asn) rs1555418631
NM_005159.5(ACTC1):c.1093G>A (p.Asp365Asn) rs2140428952
NM_005159.5(ACTC1):c.1093G>T (p.Asp365Tyr) rs2140428952
NM_005159.5(ACTC1):c.10G>A (p.Asp4Asn) rs730880408
NM_005159.5(ACTC1):c.10G>C (p.Asp4His) rs730880408
NM_005159.5(ACTC1):c.1100C>G (p.Ala367Gly) rs2140428937
NM_005159.5(ACTC1):c.1109C>G (p.Ser370Cys)
NM_005159.5(ACTC1):c.1112T>C (p.Ile371Thr) rs730880407
NM_005159.5(ACTC1):c.1129T>G (p.Phe377Val) rs2140428902
NM_005159.5(ACTC1):c.1133A>T (p.Ter378Leu)
NM_005159.5(ACTC1):c.124C>T (p.His42Tyr) rs2140433161
NM_005159.5(ACTC1):c.129+3A>G rs763452221
NM_005159.5(ACTC1):c.12C>A (p.Asp4Glu) rs768526036
NM_005159.5(ACTC1):c.134T>C (p.Val45Ala) rs1555418924
NM_005159.5(ACTC1):c.148G>A (p.Gly50Ser) rs1555418921
NM_005159.5(ACTC1):c.151C>T (p.Gln51Ter)
NM_005159.5(ACTC1):c.157G>A (p.Asp53Asn)
NM_005159.5(ACTC1):c.166G>A (p.Val56Ile) rs944740404
NM_005159.5(ACTC1):c.166G>C (p.Val56Leu) rs944740404
NM_005159.5(ACTC1):c.178G>A (p.Ala60Thr) rs1555418912
NM_005159.5(ACTC1):c.188A>G (p.Lys63Arg) rs794727502
NM_005159.5(ACTC1):c.191G>A (p.Arg64Lys) rs869025353
NM_005159.5(ACTC1):c.1A>G (p.Met1Val)
NM_005159.5(ACTC1):c.220G>C (p.Glu74Gln)
NM_005159.5(ACTC1):c.22A>G (p.Thr8Ala) rs730880390
NM_005159.5(ACTC1):c.244G>A (p.Asp82Asn)
NM_005159.5(ACTC1):c.281A>G (p.Asn94Ser) rs767734253
NM_005159.5(ACTC1):c.286C>T (p.Leu96Phe)
NM_005159.5(ACTC1):c.290G>A (p.Arg97His)
NM_005159.5(ACTC1):c.293T>C (p.Val98Ala) rs1555418891
NM_005159.5(ACTC1):c.296C>T (p.Ala99Val)
NM_005159.5(ACTC1):c.298C>A (p.Pro100Thr)
NM_005159.5(ACTC1):c.2T>C (p.Met1Thr) rs781220417
NM_005159.5(ACTC1):c.302A>T (p.Glu101Val) rs1891748027
NM_005159.5(ACTC1):c.309C>A (p.His103Gln) rs769303249
NM_005159.5(ACTC1):c.310C>T (p.Pro104Ser) rs397517059
NM_005159.5(ACTC1):c.312del (p.Thr105fs) rs1891747424
NM_005159.5(ACTC1):c.314C>T (p.Thr105Ile)
NM_005159.5(ACTC1):c.31G>C (p.Val11Leu)
NM_005159.5(ACTC1):c.329C>T (p.Ala110Val)
NM_005159.5(ACTC1):c.332del (p.Pro111fs) rs1891747102
NM_005159.5(ACTC1):c.337A>C (p.Asn113His)
NM_005159.5(ACTC1):c.337A>T (p.Asn113Tyr)
NM_005159.5(ACTC1):c.362T>C (p.Met121Thr) rs1891746619
NM_005159.5(ACTC1):c.365C>T (p.Thr122Ile)
NM_005159.5(ACTC1):c.372C>G (p.Ile124Met) rs397517061
NM_005159.5(ACTC1):c.374T>C (p.Met125Thr) rs1595761344
NM_005159.5(ACTC1):c.375G>C (p.Met125Ile) rs1595761338
NM_005159.5(ACTC1):c.376T>A (p.Phe126Ile)
NM_005159.5(ACTC1):c.382A>G (p.Thr128Ala) rs1595761333
NM_005159.5(ACTC1):c.383C>A (p.Thr128Asn) rs727504308
NM_005159.5(ACTC1):c.383C>T (p.Thr128Ile) rs727504308
NM_005159.5(ACTC1):c.389A>G (p.Asn130Ser) rs1595761325
NM_005159.5(ACTC1):c.397G>A (p.Ala133Thr) rs1566967697
NM_005159.5(ACTC1):c.397G>C (p.Ala133Pro) rs1566967697
NM_005159.5(ACTC1):c.398C>T (p.Ala133Val) rs1257864393
NM_005159.5(ACTC1):c.409G>A (p.Ala137Thr) rs1891745022
NM_005159.5(ACTC1):c.40A>G (p.Asn14Asp)
NM_005159.5(ACTC1):c.410C>T (p.Ala137Val) rs2140431775
NM_005159.5(ACTC1):c.421G>C (p.Val141Leu)
NM_005159.5(ACTC1):c.424C>G (p.Leu142Val)
NM_005159.5(ACTC1):c.43G>C (p.Gly15Arg)
NM_005159.5(ACTC1):c.440C>G (p.Ser147Cys)
NM_005159.5(ACTC1):c.441del (p.Gly148fs)
NM_005159.5(ACTC1):c.451A>G (p.Thr151Ala)
NM_005159.5(ACTC1):c.452C>T (p.Thr151Ile)
NM_005159.5(ACTC1):c.454G>A (p.Gly152Ser) rs1247069535
NM_005159.5(ACTC1):c.455G>T (p.Gly152Val)
NM_005159.5(ACTC1):c.458T>C (p.Ile153Thr) rs1555418843
NM_005159.5(ACTC1):c.473G>A (p.Gly158Glu) rs2140431025
NM_005159.5(ACTC1):c.477T>G (p.Asp159Glu) rs886039144
NM_005159.5(ACTC1):c.481G>A (p.Val161Ile)
NM_005159.5(ACTC1):c.482T>C (p.Val161Ala) rs1060502824
NM_005159.5(ACTC1):c.485C>T (p.Thr162Ile) rs1379875828
NM_005159.5(ACTC1):c.493G>A (p.Val165Ile) rs2140431000
NM_005159.5(ACTC1):c.496C>T (p.Pro166Ser) rs267606628
NM_005159.5(ACTC1):c.500T>C (p.Ile167Thr) rs730880409
NM_005159.5(ACTC1):c.500T>G (p.Ile167Ser) rs730880409
NM_005159.5(ACTC1):c.501C>G (p.Ile167Met) rs1306504752
NM_005159.5(ACTC1):c.507G>A (p.Glu169=) rs1555418837
NM_005159.5(ACTC1):c.520C>A (p.Pro174Thr)
NM_005159.5(ACTC1):c.523dup (p.His175fs) rs730880389
NM_005159.5(ACTC1):c.524A>C (p.His175Pro) rs1566967487
NM_005159.5(ACTC1):c.527C>T (p.Ala176Val) rs2140430933
NM_005159.5(ACTC1):c.529A>G (p.Ile177Val) rs730880392
NM_005159.5(ACTC1):c.529A>T (p.Ile177Phe)
NM_005159.5(ACTC1):c.52C>A (p.Leu18Met)
NM_005159.5(ACTC1):c.532A>T (p.Met178Leu) rs1555418829
NM_005159.5(ACTC1):c.541G>A (p.Asp181Asn)
NM_005159.5(ACTC1):c.541G>C (p.Asp181His) rs730880393
NM_005159.5(ACTC1):c.544C>A (p.Leu182Met)
NM_005159.5(ACTC1):c.554G>A (p.Arg185Gln)
NM_005159.5(ACTC1):c.556del (p.Asp186fs)
NM_005159.5(ACTC1):c.562A>G (p.Thr188Ala) rs1555418824
NM_005159.5(ACTC1):c.563C>T (p.Thr188Ile) rs730880394
NM_005159.5(ACTC1):c.565G>C (p.Asp189His)
NM_005159.5(ACTC1):c.566A>C (p.Asp189Ala) rs2140430890
NM_005159.5(ACTC1):c.574A>G (p.Met192Val) rs1555418823
NM_005159.5(ACTC1):c.578A>G (p.Lys193Arg)
NM_005159.5(ACTC1):c.579G>T (p.Lys193Asn) rs730880395
NM_005159.5(ACTC1):c.583C>T (p.Leu195Phe) rs1891723828
NM_005159.5(ACTC1):c.599_602dup (p.Phe202fs) rs2140430851
NM_005159.5(ACTC1):c.601T>C (p.Ser201Pro) rs2140430853
NM_005159.5(ACTC1):c.607G>A (p.Val203Ile) rs1060502822
NM_005159.5(ACTC1):c.616+3G>A
NM_005159.5(ACTC1):c.616+4_616+7del rs1891723274
NM_005159.5(ACTC1):c.61G>A (p.Ala21Thr)
NM_005159.5(ACTC1):c.62C>T (p.Ala21Val) rs1060502823
NM_005159.5(ACTC1):c.634C>T (p.Arg212Cys) rs1437269590
NM_005159.5(ACTC1):c.635G>A (p.Arg212His) rs397517067
NM_005159.5(ACTC1):c.639C>A (p.Asp213Glu)
NM_005159.5(ACTC1):c.652C>A (p.Leu218Met) rs760269526
NM_005159.5(ACTC1):c.659A>T (p.Tyr220Phe)
NM_005159.5(ACTC1):c.664G>A (p.Ala222Thr) rs1555418793
NM_005159.5(ACTC1):c.671A>G (p.Asp224Gly)
NM_005159.5(ACTC1):c.67T>C (p.Phe23Leu) rs193922681
NM_005159.5(ACTC1):c.687G>A (p.Met229Ile) rs1595760799
NM_005159.5(ACTC1):c.689C>T (p.Ala230Val)
NM_005159.5(ACTC1):c.692C>T (p.Thr231Ile) rs1060502825
NM_005159.5(ACTC1):c.695C>T (p.Ala232Val) rs730880396
NM_005159.5(ACTC1):c.697G>C (p.Ala233Pro) rs2140430611
NM_005159.5(ACTC1):c.707C>T (p.Ser236Phe) rs1595760777
NM_005159.5(ACTC1):c.713T>C (p.Leu238Pro) rs770397773
NM_005159.5(ACTC1):c.723C>A (p.Ser241Arg) rs1566967406
NM_005159.5(ACTC1):c.725A>G (p.Tyr242Cys) rs2140430561
NM_005159.5(ACTC1):c.727G>C (p.Glu243Gln) rs1891718487
NM_005159.5(ACTC1):c.730C>A (p.Leu244Met) rs2140430556
NM_005159.5(ACTC1):c.733C>T (p.Pro245Ser)
NM_005159.5(ACTC1):c.755T>C (p.Ile252Thr) rs730880398
NM_005159.5(ACTC1):c.756T>G (p.Ile252Met) rs371940910
NM_005159.5(ACTC1):c.758G>C (p.Gly253Ala)
NM_005159.5(ACTC1):c.778C>G (p.Pro260Ala)
NM_005159.5(ACTC1):c.784A>T (p.Thr262Ser) rs1060502821
NM_005159.5(ACTC1):c.793C>G (p.Gln265Glu) rs727504323
NM_005159.5(ACTC1):c.806T>C (p.Ile269Thr) rs397517071
NM_005159.5(ACTC1):c.808+1G>C rs730880400
NM_005159.5(ACTC1):c.808+3G>A rs397517070
NM_005159.5(ACTC1):c.809-12_809-11insGT rs774238821
NM_005159.5(ACTC1):c.809-58TG[17] rs59431308
NM_005159.5(ACTC1):c.809-58TG[21] rs59431308
NM_005159.5(ACTC1):c.809-58TG[22] rs59431308
NM_005159.5(ACTC1):c.809-58TG[24] rs59431308
NM_005159.5(ACTC1):c.809-58TG[25] rs59431308
NM_005159.5(ACTC1):c.809-58TG[26] rs59431308
NM_005159.5(ACTC1):c.813G>A (p.Met271Ile) rs1891698673
NM_005159.5(ACTC1):c.813G>T (p.Met271Ile)
NM_005159.5(ACTC1):c.82G>A (p.Ala28Thr)
NM_005159.5(ACTC1):c.83C>T (p.Ala28Val) rs397517072
NM_005159.5(ACTC1):c.848G>C (p.Ser283Thr)
NM_005159.5(ACTC1):c.850A>T (p.Ile284Phe) rs397517073
NM_005159.5(ACTC1):c.854T>A (p.Met285Lys) rs869025354
NM_005159.5(ACTC1):c.854T>G (p.Met285Arg)
NM_005159.5(ACTC1):c.856A>G (p.Lys286Glu)
NM_005159.5(ACTC1):c.883C>A (p.Leu295Met) rs2140429655
NM_005159.5(ACTC1):c.884T>A (p.Leu295Gln) rs1891697323
NM_005159.5(ACTC1):c.886T>A (p.Tyr296Asn) rs730880402
NM_005159.5(ACTC1):c.892A>G (p.Asn298Asp) rs1595760259
NM_005159.5(ACTC1):c.905C>A (p.Ser302Tyr)
NM_005159.5(ACTC1):c.908G>T (p.Gly303Val) rs1057518530
NM_005159.5(ACTC1):c.911G>A (p.Gly304Asp) rs1891696834
NM_005159.5(ACTC1):c.914C>T (p.Thr305Ile) rs1891696768
NM_005159.5(ACTC1):c.922T>C (p.Tyr308His) rs1566967093
NM_005159.5(ACTC1):c.92C>T (p.Ala31Val)
NM_005159.5(ACTC1):c.934_935delinsT (p.Ala312fs) rs1595760229
NM_005159.5(ACTC1):c.94G>A (p.Val32Ile) rs1555419003
NM_005159.5(ACTC1):c.94G>C (p.Val32Leu)
NM_005159.5(ACTC1):c.950A>G (p.Lys317Arg)
NM_005159.5(ACTC1):c.957_959dup (p.Thr320dup) rs1595760207
NM_005159.5(ACTC1):c.959C>T (p.Thr320Ile) rs1891695680
NM_005159.5(ACTC1):c.962C>T (p.Ala321Val)
NM_005159.5(ACTC1):c.964C>G (p.Leu322Val) rs1891695577
NM_005159.5(ACTC1):c.967G>C (p.Ala323Pro) rs771011464
NM_005159.5(ACTC1):c.968C>T (p.Ala323Val) rs730880404
NM_005159.5(ACTC1):c.970_973del (p.Pro324fs)
NM_005159.5(ACTC1):c.973A>G (p.Ser325Gly) rs1555418679
NM_005159.5(ACTC1):c.978C>A (p.Thr326=) rs886051089
NM_005159.5(ACTC1):c.986T>C (p.Ile329Thr) rs730880410
NM_005159.5(ACTC1):c.990+14_990+15insAAAGAACTTTTGGGGGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTCTGCATTTCCATCTGAGGTACCNNNNNNNNNNAAAAAAAAAAAAAAAAA rs2140429486
NM_005159.5(ACTC1):c.990+6G>A rs749154513
NM_005159.5(ACTC1):c.990+6G>C
NM_005159.5(ACTC1):c.990G>A (p.Lys330=)
NM_005159.5(ACTC1):c.991-2del
NM_005159.5(ACTC1):c.991A>G (p.Ile331Val) rs730880405
NM_005159.5(ACTC1):c.998C>T (p.Ala333Val) rs730880406
NM_005257.6(GATA6):c.1089G>T (p.Gln363His) rs1253142325
NM_005257.6(GATA6):c.1342C>T (p.His448Tyr)
NM_005257.6(GATA6):c.202G>C (p.Glu68Gln)
NM_005257.6(GATA6):c.233T>C (p.Leu78Pro) rs1253034411
NM_005257.6(GATA6):c.706G>T (p.Gly236Cys) rs904551659
NM_005633.4(SOS1):c.1352C>A (p.Thr451Lys) rs730880218
NM_006079.5(CITED2):c.114CCA[1] (p.His39del) rs749590293
NM_006079.5(CITED2):c.119AGC[3] (p.Gln43del)
NM_012464.5(TLL1):c.1399C>T (p.Arg467Cys)
NM_012464.5(TLL1):c.1414C>T (p.Gln472Ter) rs746995698
NM_012464.5(TLL1):c.1472A>G (p.Lys491Arg)
NM_012464.5(TLL1):c.1669G>C (p.Val557Leu)
NM_012464.5(TLL1):c.1729G>A (p.Glu577Lys)
NM_012464.5(TLL1):c.2044C>A (p.Leu682Ile)
NM_012464.5(TLL1):c.2540G>A (p.Arg847Gln)
NM_012464.5(TLL1):c.2783G>A (p.Arg928Gln)
NM_012464.5(TLL1):c.2993T>A (p.Ile998Lys) rs1408093373
NM_012464.5(TLL1):c.3015T>A (p.Tyr1005Ter)
NM_012464.5(TLL1):c.985C>T (p.Arg329Ter)
NM_014608.6(CYFIP1):c.1348G>T (p.Ala450Ser)
NM_014608.6(CYFIP1):c.1798T>C (p.Phe600Leu)
NM_015089.4(CUL9):c.2732C>T (p.Pro911Leu)
NM_015089.4(CUL9):c.7237C>T (p.Arg2413Trp)
NM_015311.3(OBSL1):c.2980C>T (p.Arg994Cys) rs749541061
NM_031407.7(HUWE1):c.6485G>C (p.Arg2162Pro) rs1556948950
NM_053025.4(MYLK):c.3637G>A (p.Val1213Met) rs368390254

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