ClinVar Miner

List of variants reported as uncertain significance for heart septal defect

Included ClinVar conditions (102):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1606
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001308093.3(GATA4):c.825C>T (p.Cys275=) rs55980825 0.00269
NM_012464.5(TLL1):c.2783G>A (p.Arg928Gln) rs116616112 0.00058
NM_001136271.3(NKX2-6):c.121T>A (p.Phe41Ile) rs576577900 0.00041
NM_005159.4(ACTC1):c.*1781C>T rs560065427 0.00041
NM_001136271.3(NKX2-6):c.464G>T (p.Arg155Leu) rs534202593 0.00036
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.292G>A (p.Glu98Lys) rs140596256 0.00030
NM_001136271.3(NKX2-6):c.895A>G (p.Arg299Gly) rs564297816 0.00029
NM_002471.4(MYH6):c.3230A>T (p.Gln1077Leu) rs377716628 0.00029
NM_002471.4(MYH6):c.4772A>G (p.Asn1591Ser) rs200751434 0.00022
NM_005257.6(GATA6):c.551G>A (p.Ser184Asn) rs387906816 0.00022
NM_002471.4(MYH6):c.3383G>A (p.Arg1128His) rs376002621 0.00021
NM_002471.4(MYH6):c.4505G>A (p.Arg1502Gln) rs199936506 0.00021
NM_005257.6(GATA6):c.839G>C (p.Gly280Ala) rs904519303 0.00021
NM_001379200.1(TBX1):c.1214C>T (p.Pro405Leu) rs746812421 0.00020
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_001308093.3(GATA4):c.392C>G (p.Ala131Gly) rs1013984246 0.00017
NM_001308093.3(GATA4):c.8A>C (p.Gln3Pro) rs374132087 0.00017
NM_005257.6(GATA6):c.271C>T (p.Pro91Ser) rs766886560 0.00016
NM_001077653.2(TBX20):c.1309C>T (p.Arg437Cys) rs200704561 0.00015
NM_001136271.3(NKX2-6):c.521C>T (p.Thr174Met) rs372045387 0.00015
NM_002471.4(MYH6):c.5293G>A (p.Ala1765Thr) rs397516775 0.00015
NM_005257.6(GATA6):c.1027G>A (p.Ala343Thr) rs142601402 0.00015
NM_001077653.2(TBX20):c.1310G>A (p.Arg437His) rs375484585 0.00014
NM_002471.4(MYH6):c.2611C>T (p.Arg871Cys) rs376682837 0.00014
NM_002471.4(MYH6):c.3604G>A (p.Val1202Met) rs368451573 0.00014
NM_002471.4(MYH6):c.1753G>A (p.Gly585Ser) rs150415679 0.00013
NM_002471.4(MYH6):c.2383C>T (p.Arg795Trp) rs202120238 0.00013
NM_001136271.3(NKX2-6):c.593T>C (p.Leu198Pro) rs368111443 0.00012
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_001136271.3(NKX2-6):c.171C>A (p.Asn57Lys) rs558299051 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_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_004387.4(NKX2-5):c.885C>G (p.Phe295Leu) rs150581386 0.00010
NM_005257.6(GATA6):c.259C>T (p.Pro87Ser) rs563978220 0.00010
NM_001136271.3(NKX2-6):c.276G>A (p.Gln92=) rs768775204 0.00009
NM_001308093.3(GATA4):c.1100C>T (p.Thr367Met) rs781198110 0.00009
NM_001308093.3(GATA4):c.280G>A (p.Ala94Thr) rs780764610 0.00009
NM_001308093.3(GATA4):c.942G>T (p.Glu314Asp) rs372407808 0.00009
NM_002471.4(MYH6):c.2554G>A (p.Ala852Thr) rs776971183 0.00009
NM_002471.4(MYH6):c.2929-3C>T rs376752266 0.00009
NM_002471.4(MYH6):c.3274C>G (p.Gln1092Glu) rs567433969 0.00009
NM_002471.4(MYH6):c.3612G>C (p.Glu1204Asp) rs751153777 0.00009
NM_001308093.3(GATA4):c.623T>C (p.Met208Thr) rs140892695 0.00008
NM_002471.4(MYH6):c.203C>T (p.Thr68Met) rs751285148 0.00008
NM_002471.4(MYH6):c.4747G>A (p.Glu1583Lys) rs397516771 0.00008
NM_002471.4(MYH6):c.4828C>T (p.Arg1610Cys) rs780726611 0.00008
NM_004387.4(NKX2-5):c.769C>A (p.Pro257Thr) rs387906776 0.00008
NM_001077653.2(TBX20):c.418G>A (p.Val140Met) rs766745923 0.00007
NM_001308093.3(GATA4):c.1030G>A (p.Ala344Thr) rs370588269 0.00007
NM_001379200.1(TBX1):c.711+3G>A rs376779775 0.00007
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.4016G>A (p.Arg1339Gln) rs766238876 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_005257.6(GATA6):c.16G>A (p.Gly6Ser) rs139750927 0.00007
NM_001077653.2(TBX20):c.599T>C (p.Met200Thr) rs151183955 0.00006
NM_001308093.3(GATA4):c.611A>G (p.Asn204Ser) rs562967066 0.00006
NM_001308093.3(GATA4):c.860C>T (p.Ala287Val) rs116430078 0.00006
NM_002471.4(MYH6):c.1336G>A (p.Ala446Thr) rs556536964 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.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.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_002471.4(MYH6):c.5656G>A (p.Glu1886Lys) rs138864419 0.00006
NM_004387.4(NKX2-5):c.65A>G (p.Gln22Arg) rs201442000 0.00006
NM_005257.6(GATA6):c.1672A>G (p.Ser558Gly) rs138641332 0.00006
NM_005257.6(GATA6):c.370G>A (p.Ala124Thr) rs372228686 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_001136271.3(NKX2-6):c.649G>T (p.Gly217Cys) rs946224551 0.00005
NM_001136271.3(NKX2-6):c.673C>T (p.Pro225Ser) rs913645847 0.00005
NM_001308093.3(GATA4):c.1295T>G (p.Val432Gly) rs114944893 0.00005
NM_002471.4(MYH6):c.190G>A (p.Glu64Lys) rs750818212 0.00005
NM_002471.4(MYH6):c.226G>A (p.Val76Met) rs977234074 0.00005
NM_002471.4(MYH6):c.2716C>T (p.Arg906Cys) rs143928061 0.00005
NM_002471.4(MYH6):c.3785G>A (p.Arg1262His) rs544358806 0.00005
NM_002471.4(MYH6):c.4082G>A (p.Arg1361His) rs533942127 0.00005
NM_002471.4(MYH6):c.5077G>A (p.Val1693Met) rs373457153 0.00005
NM_004387.4(NKX2-5):c.188C>T (p.Ala63Val) rs530270916 0.00005
NM_004387.4(NKX2-5):c.890_891dup (p.Gly298fs) rs778545351 0.00005
NM_005257.6(GATA6):c.775G>A (p.Val259Ile) rs911752926 0.00005
NM_015089.4(CUL9):c.2732C>T (p.Pro911Leu) rs139758390 0.00005
NM_001136271.3(NKX2-6):c.314C>G (p.Thr105Ser) rs887208406 0.00004
NM_001308093.3(GATA4):c.1106C>G (p.Pro369Arg) rs775379687 0.00004
NM_001308093.3(GATA4):c.283G>A (p.Asp95Asn) rs745305589 0.00004
NM_001308093.3(GATA4):c.30C>A (p.Asn10Lys) rs1274085631 0.00004
NM_001308093.3(GATA4):c.487C>T (p.Pro163Ser) rs387906769 0.00004
NM_001308093.3(GATA4):c.994C>T (p.Pro332Ser) rs768967856 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.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.3618C>T (p.Gly1206=) rs765103086 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.928G>A (p.Asp310Asn) rs374692396 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.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_005257.6(GATA6):c.1628C>G (p.Ala543Gly) rs761668180 0.00004
NM_005257.6(GATA6):c.1754G>T (p.Arg585Leu) rs201707559 0.00004
NM_005257.6(GATA6):c.89G>A (p.Arg30Gln) rs756406083 0.00004
NM_017780.4(CHD7):c.6088G>A (p.Val2030Ile) rs143796440 0.00004
NM_021005.4(NR2F2):c.19A>G (p.Thr7Ala) rs901462929 0.00004
NM_001009944.3(PKD1):c.226C>T (p.His76Tyr) rs932577597 0.00003
NM_001077653.2(TBX20):c.395C>T (p.Thr132Ile) rs200630726 0.00003
NM_001077653.2(TBX20):c.785C>T (p.Thr262Met) rs747369702 0.00003
NM_001136271.3(NKX2-6):c.614C>T (p.Pro205Leu) rs371546349 0.00003
NM_001136271.3(NKX2-6):c.644G>A (p.Arg215His) rs916318048 0.00003
NM_001136271.3(NKX2-6):c.826G>T (p.Ala276Ser) rs959054178 0.00003
NM_001308093.3(GATA4):c.1149+6C>T rs572050627 0.00003
NM_001308093.3(GATA4):c.1149G>A (p.Gln383=) rs751950851 0.00003
NM_001308093.3(GATA4):c.1175G>C (p.Gly392Ala) rs147093296 0.00003
NM_001308093.3(GATA4):c.1178A>C (p.His393Pro) rs766572598 0.00003
NM_001308093.3(GATA4):c.1205C>T (p.Ser402Leu) rs748130910 0.00003
NM_001308093.3(GATA4):c.1231T>C (p.Tyr411His) rs372808540 0.00003
NM_001308093.3(GATA4):c.1243G>A (p.Val415Ile) rs900347264 0.00003
NM_001308093.3(GATA4):c.244A>G (p.Thr82Ala) rs961114777 0.00003
NM_001308093.3(GATA4):c.260C>A (p.Pro87Gln) rs1050251819 0.00003
NM_001308093.3(GATA4):c.34G>C (p.Gly12Arg) rs750597721 0.00003
NM_001308093.3(GATA4):c.425G>T (p.Gly142Val) rs1188215516 0.00003
NM_001308093.3(GATA4):c.599C>T (p.Ala200Val) rs1313649801 0.00003
NM_001308093.3(GATA4):c.772C>T (p.Pro258Ser) rs368091578 0.00003
NM_001308093.3(GATA4):c.94G>C (p.Ala32Pro) rs773545065 0.00003
NM_001379200.1(TBX1):c.1401C>G (p.Pro467=) rs753192876 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.268A>G (p.Met90Val) rs778199745 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.3316C>A (p.Leu1106Ile) rs1595055372 0.00003
NM_002471.4(MYH6):c.3466G>A (p.Gly1156Ser) rs1378744560 0.00003
NM_002471.4(MYH6):c.3476C>T (p.Thr1159Met) rs780305056 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.5593C>T (p.Arg1865Trp) rs759499155 0.00003
NM_002471.4(MYH6):c.5735C>T (p.Ala1912Val) rs373076710 0.00003
NM_002471.4(MYH6):c.5780G>T (p.Arg1927Leu) rs730880152 0.00003
NM_002471.4(MYH6):c.610C>T (p.Arg204Cys) rs756369181 0.00003
NM_004387.4(NKX2-5):c.356C>A (p.Ala119Glu) rs369025518 0.00003
NM_004387.4(NKX2-5):c.673C>T (p.Arg225Cys) rs866974584 0.00003
NM_004387.4(NKX2-5):c.776A>T (p.Tyr259Phe) rs553883993 0.00003
NM_004387.4(NKX2-5):c.809G>A (p.Cys270Tyr) rs587782931 0.00003
NM_005159.5(ACTC1):c.616+6T>C rs574862389 0.00003
NM_005159.5(ACTC1):c.809-14T>A rs1157097825 0.00003
NM_005257.6(GATA6):c.1123G>A (p.Gly375Ser) rs954640705 0.00003
NM_005257.6(GATA6):c.1696G>A (p.Asp566Asn) rs947813106 0.00003
NM_005257.6(GATA6):c.233T>C (p.Leu78Pro) rs1253034411 0.00003
NM_005257.6(GATA6):c.670G>A (p.Gly224Ser) rs1007535542 0.00003
NM_012464.5(TLL1):c.1472A>G (p.Lys491Arg) rs776527699 0.00003
NC_000018.10:g.22169190A>T rs916466917 0.00002
NM_001077653.2(TBX20):c.1036C>G (p.Leu346Val) rs768158277 0.00002
NM_001110556.2(FLNA):c.3934C>T (p.Arg1312Cys) rs781928289 0.00002
NM_001136271.3(NKX2-6):c.745G>A (p.Gly249Arg) rs752427485 0.00002
NM_001308093.3(GATA4):c.1027C>T (p.Pro343Ser) rs1050759982 0.00002
NM_001308093.3(GATA4):c.1070G>T (p.Ser357Ile) rs1014543362 0.00002
NM_001308093.3(GATA4):c.1078G>A (p.Glu360Lys) rs368489876 0.00002
NM_001308093.3(GATA4):c.1099A>T (p.Thr367Ser) rs771120775 0.00002
NM_001308093.3(GATA4):c.1136G>T (p.Ser379Ile) rs878854481 0.00002
NM_001308093.3(GATA4):c.124C>A (p.Pro42Thr) rs980252090 0.00002
NM_001308093.3(GATA4):c.1262C>A (p.Thr421Asn) rs114839964 0.00002
NM_001308093.3(GATA4):c.175G>A (p.Ala59Thr) rs1183065957 0.00002
NM_001308093.3(GATA4):c.179G>A (p.Gly60Asp) rs1451316561 0.00002
NM_001308093.3(GATA4):c.298A>G (p.Thr100Ala) rs891667879 0.00002
NM_001308093.3(GATA4):c.380G>T (p.Arg127Leu) rs1243318122 0.00002
NM_001308093.3(GATA4):c.488C>G (p.Pro163Arg) rs540578824 0.00002
NM_001308093.3(GATA4):c.496A>G (p.Met166Val) rs1397506569 0.00002
NM_001308093.3(GATA4):c.557G>C (p.Ser186Thr) rs763895652 0.00002
NM_001308093.3(GATA4):c.912+5G>A rs371005520 0.00002
NM_001308093.3(GATA4):c.943G>A (p.Gly315Arg) rs377222076 0.00002
NM_001379200.1(TBX1):c.351C>T (p.Ala117=) rs757290764 0.00002
NM_001379200.1(TBX1):c.97G>T (p.Ala33Ser) rs1359119941 0.00002
NM_001384.5(DPH2):c.601C>T (p.Arg201Cys) rs767455462 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.1373T>C (p.Ile458Thr) rs774807696 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.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.4349A>C (p.Asn1450Thr) rs1005724382 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.4769G>A (p.Arg1590His) rs377473560 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.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.182C>T (p.Ala61Val) rs864321650 0.00002
NM_004387.4(NKX2-5):c.257T>C (p.Phe86Ser) rs373807012 0.00002
NM_004387.4(NKX2-5):c.343G>C (p.Ala115Pro) rs1483052303 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.827C>G (p.Ala276Gly) rs751564052 0.00002
NM_004387.4(NKX2-5):c.887G>A (p.Gly296Asp) rs373421818 0.00002
NM_005159.5(ACTC1):c.-36C>G rs886051091 0.00002
NM_005159.5(ACTC1):c.990+6G>C rs749154513 0.00002
NM_005257.6(GATA6):c.116T>C (p.Ile39Thr) rs572030089 0.00002
NM_005257.6(GATA6):c.1223A>G (p.His408Arg) rs1205923643 0.00002
NM_005257.6(GATA6):c.277G>C (p.Gly93Arg) rs529881815 0.00002
NM_005257.6(GATA6):c.314A>G (p.Asn105Ser) rs1185679421 0.00002
NM_005257.6(GATA6):c.367A>G (p.Thr123Ala) rs1194141406 0.00002
NM_005257.6(GATA6):c.502G>A (p.Gly168Ser) rs774639835 0.00002
NM_005257.6(GATA6):c.56C>A (p.Ala19Glu) rs758867858 0.00002
NM_005257.6(GATA6):c.589A>C (p.Met197Leu) rs1245355073 0.00002
NM_005257.6(GATA6):c.857G>A (p.Gly286Asp) rs1024878588 0.00002
NM_005257.6(GATA6):c.94C>A (p.Pro32Thr) rs1166309522 0.00002
NM_005257.6(GATA6):c.95C>T (p.Pro32Leu) rs1473003349 0.00002
NM_012464.5(TLL1):c.2540G>A (p.Arg847Gln) rs867864770 0.00002
NM_021005.4(NR2F2):c.4G>T (p.Ala2Ser) rs1236325542 0.00002
NM_021005.4(NR2F2):c.616A>C (p.Ile206Leu) rs780916977 0.00002
NM_021005.4(NR2F2):c.95C>G (p.Pro32Arg) rs1360897061 0.00002
NM_000089.4(COL1A2):c.280-7T>C rs750868020 0.00001
NM_001077653.2(TBX20):c.1003+129T>C rs483353008 0.00001
NM_001077653.2(TBX20):c.1046G>C (p.Trp349Ser) rs748900621 0.00001
NM_001077653.2(TBX20):c.1124T>C (p.Ile375Thr) rs752916726 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_001136271.3(NKX2-6):c.125A>G (p.Gln42Arg) rs1440787889 0.00001
NM_001136271.3(NKX2-6):c.181G>A (p.Gly61Ser) rs774277973 0.00001
NM_001136271.3(NKX2-6):c.226C>T (p.Pro76Ser) rs1195067755 0.00001
NM_001136271.3(NKX2-6):c.274C>A (p.Gln92Lys) rs530501230 0.00001
NM_001136271.3(NKX2-6):c.35C>T (p.Ser12Leu) rs1254295378 0.00001
NM_001136271.3(NKX2-6):c.434T>C (p.Leu145Pro) rs1369416257 0.00001
NM_001136271.3(NKX2-6):c.446G>A (p.Arg149Gln) rs781453291 0.00001
NM_001136271.3(NKX2-6):c.50T>C (p.Leu17Pro) rs1197285444 0.00001
NM_001136271.3(NKX2-6):c.538T>C (p.Phe180Leu) rs1165279653 0.00001
NM_001136271.3(NKX2-6):c.572G>T (p.Arg191Leu) rs548152920 0.00001
NM_001136271.3(NKX2-6):c.625G>T (p.Ala209Ser) rs941121273 0.00001
NM_001136271.3(NKX2-6):c.632C>G (p.Pro211Arg) rs879460402 0.00001
NM_001136271.3(NKX2-6):c.686C>T (p.Ala229Val) rs1563303655 0.00001
NM_001136271.3(NKX2-6):c.698C>A (p.Pro233His) rs936421503 0.00001
NM_001308093.3(GATA4):c.1001-3C>T rs1184164811 0.00001
NM_001308093.3(GATA4):c.1031C>T (p.Ala344Val) rs1199535707 0.00001
NM_001308093.3(GATA4):c.1036G>A (p.Gly346Ser) rs779421943 0.00001
NM_001308093.3(GATA4):c.1060G>A (p.Ala354Thr) rs770938655 0.00001
NM_001308093.3(GATA4):c.1087C>T (p.Arg363Cys) rs145999237 0.00001
NM_001308093.3(GATA4):c.1112T>G (p.Leu371Arg) rs774134071 0.00001
NM_001308093.3(GATA4):c.1151C>T (p.Thr384Met) rs759067821 0.00001
NM_001308093.3(GATA4):c.1160T>C (p.Val387Ala) rs368991748 0.00001
NM_001308093.3(GATA4):c.1166C>A (p.Ala389Glu) rs376885265 0.00001
NM_001308093.3(GATA4):c.1181G>A (p.Gly394Glu) rs1000341752 0.00001
NM_001308093.3(GATA4):c.1240C>G (p.Pro414Ala) rs1217555878 0.00001
NM_001308093.3(GATA4):c.1241C>T (p.Pro414Leu) rs773626580 0.00001
NM_001308093.3(GATA4):c.125C>A (p.Pro42Gln) rs766590532 0.00001
NM_001308093.3(GATA4):c.1262C>G (p.Thr421Ser) rs114839964 0.00001
NM_001308093.3(GATA4):c.1285A>C (p.Asn429His) rs1286668690 0.00001
NM_001308093.3(GATA4):c.1301C>G (p.Ala434Gly) rs1338045470 0.00001
NM_001308093.3(GATA4):c.1303G>A (p.Asp435Asn) rs745543448 0.00001
NM_001308093.3(GATA4):c.1318A>G (p.Ile440Val) rs772619099 0.00001
NM_001308093.3(GATA4):c.134C>T (p.Pro45Leu) rs2130067843 0.00001
NM_001308093.3(GATA4):c.143T>G (p.Val48Gly) rs1272999942 0.00001
NM_001308093.3(GATA4):c.182C>T (p.Ser61Phe) rs1191358899 0.00001
NM_001308093.3(GATA4):c.193G>A (p.Gly65Ser) rs1399618529 0.00001
NM_001308093.3(GATA4):c.19A>G (p.Met7Val) rs899023750 0.00001
NM_001308093.3(GATA4):c.205G>T (p.Gly69Cys) rs1326304521 0.00001
NM_001308093.3(GATA4):c.206G>T (p.Gly69Val) rs938776629 0.00001
NM_001308093.3(GATA4):c.214G>T (p.Gly72Cys) rs1310454033 0.00001
NM_001308093.3(GATA4):c.218G>T (p.Gly73Val) rs1300914582 0.00001
NM_001308093.3(GATA4):c.221C>A (p.Ala74Asp) rs1258064099 0.00001
NM_001308093.3(GATA4):c.241G>A (p.Gly81Arg) rs1466334264 0.00001
NM_001308093.3(GATA4):c.253G>T (p.Gly85Cys) rs996002593 0.00001
NM_001308093.3(GATA4):c.263G>T (p.Gly88Val) rs980402710 0.00001
NM_001308093.3(GATA4):c.269G>C (p.Ser90Thr) rs925893907 0.00001
NM_001308093.3(GATA4):c.278G>C (p.Gly93Ala) rs56191129 0.00001
NM_001308093.3(GATA4):c.290C>T (p.Ala97Val) rs1325954118 0.00001
NM_001308093.3(GATA4):c.292G>A (p.Ala98Thr) rs769268305 0.00001
NM_001308093.3(GATA4):c.347C>T (p.Ser116Phe) rs539403410 0.00001
NM_001308093.3(GATA4):c.349C>G (p.Leu117Val) rs1265057798 0.00001
NM_001308093.3(GATA4):c.368C>G (p.Ala123Gly) rs2486780832 0.00001
NM_001308093.3(GATA4):c.385G>A (p.Ala129Thr) rs1340426392 0.00001
NM_001308093.3(GATA4):c.400A>G (p.Ser134Gly) rs1295769704 0.00001
NM_001308093.3(GATA4):c.404G>A (p.Gly135Asp) rs1386927055 0.00001
NM_001308093.3(GATA4):c.413C>T (p.Ala138Val) rs2486781092 0.00001
NM_001308093.3(GATA4):c.416C>T (p.Ala139Val) rs1368990933 0.00001
NM_001308093.3(GATA4):c.418G>A (p.Gly140Ser) rs1185285048 0.00001
NM_001308093.3(GATA4):c.419G>T (p.Gly140Val) rs1800017929 0.00001
NM_001308093.3(GATA4):c.41C>G (p.Pro14Arg) rs996317979 0.00001
NM_001308093.3(GATA4):c.457G>A (p.Gly153Ser) rs1554488611 0.00001
NM_001308093.3(GATA4):c.464C>T (p.Ala155Val) rs1800021074 0.00001
NM_001308093.3(GATA4):c.467G>T (p.Gly156Val) rs1168049106 0.00001
NM_001308093.3(GATA4):c.491C>T (p.Ala164Val) rs1425061772 0.00001
NM_001308093.3(GATA4):c.499G>A (p.Ala167Thr) rs765273410 0.00001
NM_001308093.3(GATA4):c.500C>T (p.Ala167Val) rs2486782177 0.00001
NM_001308093.3(GATA4):c.512C>G (p.Ala171Gly) rs1424583100 0.00001
NM_001308093.3(GATA4):c.532G>A (p.Ala178Thr) rs1800026498 0.00001
NM_001308093.3(GATA4):c.55G>A (p.Glu19Lys) rs1139240 0.00001
NM_001308093.3(GATA4):c.592C>T (p.Pro198Ser) rs1359707472 0.00001
NM_001308093.3(GATA4):c.608C>G (p.Pro203Arg) rs1049056938 0.00001
NM_001308093.3(GATA4):c.626T>C (p.Phe209Ser) rs1255379844 0.00001
NM_001308093.3(GATA4):c.631G>A (p.Asp211Asn) rs377673676 0.00001
NM_001308093.3(GATA4):c.640G>C (p.Glu214Gln) rs370946998 0.00001
NM_001308093.3(GATA4):c.727G>A (p.Gly243Ser) rs1060500082 0.00001
NM_001308093.3(GATA4):c.748G>A (p.Gly250Ser) rs1431297203 0.00001
NM_001308093.3(GATA4):c.773C>T (p.Pro258Leu) rs753457161 0.00001
NM_001308093.3(GATA4):c.779G>A (p.Arg260His) rs1188422407 0.00001
NM_001308093.3(GATA4):c.782G>A (p.Arg261Gln) rs1245034279 0.00001
NM_001308093.3(GATA4):c.784C>G (p.Leu262Val) rs759095800 0.00001
NM_001308093.3(GATA4):c.787-3C>T rs758327243 0.00001
NM_001308093.3(GATA4):c.797G>A (p.Arg266His) rs745533633 0.00001
NM_001308093.3(GATA4):c.7C>G (p.Gln3Glu) rs1446210727 0.00001
NM_001308093.3(GATA4):c.800G>A (p.Arg267Gln) rs1305097777 0.00001
NM_001308093.3(GATA4):c.830C>G (p.Thr277Ser) rs1186411920 0.00001
NM_001308093.3(GATA4):c.83A>G (p.His28Arg) rs534250566 0.00001
NM_001308093.3(GATA4):c.868G>A (p.Glu290Lys) rs895198693 0.00001
NM_001308093.3(GATA4):c.913-5T>G rs935306106 0.00001
NM_001308093.3(GATA4):c.931A>T (p.Met311Leu) rs387906772 0.00001
NM_001308093.3(GATA4):c.94G>A (p.Ala32Thr) rs773545065 0.00001
NM_001308093.3(GATA4):c.976C>G (p.Leu326Val) rs775993607 0.00001
NM_001308093.3(GATA4):c.98C>T (p.Ala33Val) rs989115054 0.00001
NM_001308093.3(GATA4):c.992C>G (p.Thr331Arg) rs1563231799 0.00001
NM_001379200.1(TBX1):c.740A>G (p.Gln247Arg) rs373539086 0.00001
NM_001384.5(DPH2):c.922C>T (p.Gln308Ter) rs755058688 0.00001
NM_002471.4(MYH6):c.1002+1G>T rs776627067 0.00001
NM_002471.4(MYH6):c.1042G>A (p.Ala348Thr) rs1002843684 0.00001
NM_002471.4(MYH6):c.1411-12T>C rs749244720 0.00001
NM_002471.4(MYH6):c.1486G>A (p.Val496Met) rs761085263 0.00001
NM_002471.4(MYH6):c.1492G>A (p.Glu498Lys) rs375142167 0.00001
NM_002471.4(MYH6):c.1520T>C (p.Ile507Thr) rs188023690 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.1822G>A (p.Ala608Thr) rs886050409 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.212T>C (p.Val71Ala) rs769686237 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.2578C>T (p.Arg860Cys) rs1025146248 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.3289G>A (p.Glu1097Lys) rs150868324 0.00001
NM_002471.4(MYH6):c.3542A>T (p.Glu1181Val) rs1266983460 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.4097C>T (p.Ala1366Val) rs1085307922 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.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.49C>T (p.Arg17Cys) rs1131691313 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.530+6C>T rs374289431 0.00001
NM_002471.4(MYH6):c.5452G>C (p.Glu1818Gln) rs201494081 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.5695C>T (p.Arg1899Cys) rs371607892 0.00001
NM_002471.4(MYH6):c.569G>A (p.Arg190His) rs1891729151 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_002471.4(MYH6):c.940G>A (p.Val314Met) rs1260228019 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.241A>G (p.Lys81Glu) rs904474688 0.00001
NM_004387.4(NKX2-5):c.259C>T (p.Pro87Ser) rs1352813413 0.00001
NM_004387.4(NKX2-5):c.295G>T (p.Asp99Tyr) rs1761431105 0.00001
NM_004387.4(NKX2-5):c.323C>T (p.Ala108Val) rs1581111049 0.00001
NM_004387.4(NKX2-5):c.325G>A (p.Glu109Lys) rs1290647391 0.00001
NM_004387.4(NKX2-5):c.344C>T (p.Ala115Val) rs529610517 0.00001
NM_004387.4(NKX2-5):c.380C>G (p.Ala127Gly) rs387906774 0.00001
NM_004387.4(NKX2-5):c.395G>C (p.Arg132Pro) rs754394393 0.00001
NM_004387.4(NKX2-5):c.400C>T (p.Arg134Trp) rs1248623506 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.475C>G (p.Gln159Glu) rs779716505 0.00001
NM_004387.4(NKX2-5):c.477G>C (p.Gln159His) rs1299817619 0.00001
NM_004387.4(NKX2-5):c.482G>C (p.Arg161Pro) rs137852685 0.00001
NM_004387.4(NKX2-5):c.506A>G (p.Asp169Gly) rs756623702 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.613G>A (p.Val205Met) rs1366026905 0.00001
NM_004387.4(NKX2-5):c.622C>T (p.Pro208Ser) rs1226704953 0.00001
NM_004387.4(NKX2-5):c.641C>T (p.Pro214Leu) rs781707428 0.00001
NM_004387.4(NKX2-5):c.647G>A (p.Arg216His) rs1201267220 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.704C>T (p.Ala235Val) rs749004208 0.00001
NM_004387.4(NKX2-5):c.706C>A (p.Pro236Thr) rs770192204 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.737A>G (p.Asn246Ser) rs966145309 0.00001
NM_004387.4(NKX2-5):c.763G>A (p.Ala255Thr) rs759518211 0.00001
NM_004387.4(NKX2-5):c.772G>A (p.Gly258Ser) rs772889193 0.00001
NM_004387.4(NKX2-5):c.799G>C (p.Gly267Arg) rs780688010 0.00001
NM_004387.4(NKX2-5):c.817G>C (p.Ala273Pro) rs779089768 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.889G>T (p.Val297Phe) rs569535312 0.00001
NM_004387.4(NKX2-5):c.893G>A (p.Gly298Glu) rs549406766 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.923T>C (p.Ile308Thr) rs771088497 0.00001
NM_004387.4(NKX2-5):c.932G>A (p.Ser311Asn) rs142368156 0.00001
NM_004387.4(NKX2-5):c.956A>G (p.His319Arg) rs1196710127 0.00001
NM_004387.4(NKX2-5):c.961A>G (p.Ile321Val) rs944504713 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.389A>G (p.Asn130Ser) rs1595761325 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.61G>A (p.Ala21Thr) rs1270508243 0.00001
NM_005159.5(ACTC1):c.622C>T (p.Arg208Cys) rs727505179 0.00001
NM_005159.5(ACTC1):c.639C>A (p.Asp213Glu) rs753599089 0.00001
NM_005159.5(ACTC1):c.733C>T (p.Pro245Ser) rs1891718375 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_005257.6(GATA6):c.1021G>A (p.Val341Met) rs1270889195 0.00001
NM_005257.6(GATA6):c.1030C>T (p.Pro344Ser) rs1408429022 0.00001
NM_005257.6(GATA6):c.1048C>G (p.Pro350Ala) rs964471147 0.00001
NM_005257.6(GATA6):c.1100G>C (p.Gly367Ala) rs1293318805 0.00001
NM_005257.6(GATA6):c.1103C>T (p.Ala368Val) rs1457725461 0.00001
NM_005257.6(GATA6):c.1108C>T (p.Leu370Phe) rs922570984 0.00001
NM_005257.6(GATA6):c.110C>T (p.Ser37Phe) rs776255080 0.00001
NM_005257.6(GATA6):c.1114G>A (p.Val372Met) rs1243661585 0.00001
NM_005257.6(GATA6):c.112C>A (p.Pro38Thr) rs769310811 0.00001
NM_005257.6(GATA6):c.1139T>C (p.Leu380Pro) rs1446505680 0.00001
NM_005257.6(GATA6):c.1217C>G (p.Thr406Ser) rs1277552749 0.00001
NM_005257.6(GATA6):c.1263C>A (p.Asn421Lys) rs375015752 0.00001
NM_005257.6(GATA6):c.128C>A (p.Ser43Tyr) rs968804836 0.00001
NM_005257.6(GATA6):c.1302+3G>A rs896413516 0.00001
NM_005257.6(GATA6):c.1303C>A (p.Pro435Thr) rs1182565719 0.00001
NM_005257.6(GATA6):c.1342C>T (p.His448Tyr) rs774280237 0.00001
NM_005257.6(GATA6):c.1492A>G (p.Ile498Val) rs1005332800 0.00001
NM_005257.6(GATA6):c.1513T>C (p.Ser505Pro) rs746906542 0.00001
NM_005257.6(GATA6):c.1559C>T (p.Ser520Phe) rs978211774 0.00001
NM_005257.6(GATA6):c.155G>T (p.Arg52Leu) rs541150137 0.00001
NM_005257.6(GATA6):c.160C>G (p.Pro54Ala) rs769197296 0.00001
NM_005257.6(GATA6):c.1624G>A (p.Gly542Ser) rs1568011554 0.00001
NM_005257.6(GATA6):c.1631C>T (p.Pro544Leu) rs767156756 0.00001
NM_005257.6(GATA6):c.1638G>T (p.Met546Ile) rs779755310 0.00001
NM_005257.6(GATA6):c.172A>G (p.Ser58Gly) rs924843423 0.00001
NM_005257.6(GATA6):c.1756C>G (p.Pro586Ala) rs2033452440 0.00001
NM_005257.6(GATA6):c.1757C>T (p.Pro586Leu) rs749567667 0.00001
NM_005257.6(GATA6):c.187C>T (p.Pro63Ser) rs559705145 0.00001
NM_005257.6(GATA6):c.199A>T (p.Thr67Ser) rs923229630 0.00001
NM_005257.6(GATA6):c.200C>G (p.Thr67Arg) rs933199729 0.00001
NM_005257.6(GATA6):c.208G>A (p.Ala70Thr) rs779755261 0.00001
NM_005257.6(GATA6):c.269C>T (p.Ala90Val) rs1341980994 0.00001
NM_005257.6(GATA6):c.296T>C (p.Val99Ala) rs758629279 0.00001
NM_005257.6(GATA6):c.2T>A (p.Met1Lys) rs2510624920 0.00001
NM_005257.6(GATA6):c.307G>C (p.Gly103Arg) rs749200220 0.00001
NM_005257.6(GATA6):c.364G>T (p.Ala122Ser) rs1245960637 0.00001
NM_005257.6(GATA6):c.383T>C (p.Leu128Pro) rs1381339538 0.00001
NM_005257.6(GATA6):c.400G>A (p.Ala134Thr) rs775539340 0.00001
NM_005257.6(GATA6):c.401C>A (p.Ala134Asp) rs763120373 0.00001
NM_005257.6(GATA6):c.425A>G (p.Glu142Gly) rs753842865 0.00001
NM_005257.6(GATA6):c.454G>T (p.Ala152Ser) rs1239432452 0.00001
NM_005257.6(GATA6):c.472G>A (p.Gly158Ser) rs2033048695 0.00001
NM_005257.6(GATA6):c.475C>T (p.Pro159Ser) rs777512080 0.00001
NM_005257.6(GATA6):c.481G>T (p.Ala161Ser) rs559922666 0.00001
NM_005257.6(GATA6):c.508G>A (p.Val170Met) rs1343278963 0.00001
NM_005257.6(GATA6):c.50C>G (p.Ala17Gly) rs1030316600 0.00001
NM_005257.6(GATA6):c.524C>T (p.Ala175Val) rs1254563932 0.00001
NM_005257.6(GATA6):c.538G>A (p.Ala180Thr) rs897655941 0.00001
NM_005257.6(GATA6):c.545C>G (p.Ala182Gly) rs1299769614 0.00001
NM_005257.6(GATA6):c.595C>T (p.Pro199Ser) rs1428539753 0.00001
NM_005257.6(GATA6):c.605C>A (p.Pro202Gln) rs1176964829 0.00001
NM_005257.6(GATA6):c.61G>T (p.Ala21Ser) rs752129361 0.00001
NM_005257.6(GATA6):c.622T>A (p.Ser208Thr) rs1362778914 0.00001
NM_005257.6(GATA6):c.631G>A (p.Gly211Arg) rs1375177355 0.00001
NM_005257.6(GATA6):c.646G>A (p.Ala216Thr) rs1287804596 0.00001
NM_005257.6(GATA6):c.704A>T (p.Tyr235Phe) rs1256474058 0.00001
NM_005257.6(GATA6):c.709A>G (p.Ser237Gly) rs1323110205 0.00001
NM_005257.6(GATA6):c.769G>A (p.Ala257Thr) rs2510626219 0.00001
NM_005257.6(GATA6):c.779C>T (p.Ser260Leu) rs1424061599 0.00001
NM_005257.6(GATA6):c.784C>T (p.Arg262Cys) rs1409189846 0.00001
NM_005257.6(GATA6):c.803G>C (p.Ser268Thr) rs2033057141 0.00001
NM_005257.6(GATA6):c.809C>T (p.Pro270Leu) rs1488181197 0.00001
NM_005257.6(GATA6):c.812T>C (p.Met271Thr) rs1245091745 0.00001
NM_005257.6(GATA6):c.886G>T (p.Gly296Cys) rs1214780008 0.00001
NM_005257.6(GATA6):c.902C>A (p.Ala301Glu) rs2033058989 0.00001
NM_005257.6(GATA6):c.913G>A (p.Gly305Ser) rs1483440852 0.00001
NM_005257.6(GATA6):c.961G>C (p.Gly321Arg) rs1291923956 0.00001
NM_005257.6(GATA6):c.995A>G (p.His332Arg) rs1223505085 0.00001
NM_005992.1(TBX1):c.1111G>A (p.Asp371Asn) rs1937156881 0.00001
NM_006079.5(CITED2):c.388C>T (p.Pro130Ser) rs771034141 0.00001
NM_012464.5(TLL1):c.1729G>A (p.Glu577Lys) rs1171247703 0.00001
NM_012464.5(TLL1):c.1955C>G (p.Thr652Ser) rs1486817185 0.00001
NM_014608.6(CYFIP1):c.1798T>C (p.Phe600Leu) rs1286098445 0.00001
NM_015089.4(CUL9):c.7237C>T (p.Arg2413Trp) rs749988405 0.00001
NM_021005.4(NR2F2):c.203G>A (p.Ser68Asn) rs60286962 0.00001
46;XX;der(6)t(6;13)(q23.3;q22)inv(6)(p21.3q15);der(13)t(6;13)dn
46;XX;inv(14)(q24.1q32.1)dn
46;XY;inv(9)(p24q12)
46;XY;t(16;20)(q11.2;q13.2)dn
46;XY;t(18;20)(q21.1;p11.23)dn
46;XY;t(1;3)(p22;q21)dn
46;XY;t(2;13)(p25.2;q31.3)dn
46;XY;t(6;20)(p12;q13.1)dn
GRCh37/hg19 10q25.3-26.12(chr10:118891670-122349064)x1
GRCh37/hg19 14q24.3(chr14:76105695-76107636)
GRCh37/hg19 15q12(chr15:27462869-27544157)
GRCh37/hg19 15q26.3(chr15:100923767-101626187)
GRCh37/hg19 7q34(chr7:139478979-139550968)
NC_000005.9:g.(?_172659552)_(172672303_?)dup
NC_000005.9:g.(?_172659572)_(172662086_?)dup
NC_000005.9:g.(?_172661733)_(172662086_?)dup
NC_000007.14:g.35202382A>T rs483353005
NC_000007.14:g.35202417A>T rs483353004
NC_000007.14:g.35202418T>A rs483353000
NC_000008.10:g.(?_11351220)_(11710963_?)dup
NC_000008.10:g.(?_11560787)_(11616004_?)dup
NC_000008.10:g.(?_11565822)_(11566457_?)dup
NC_000008.10:g.(?_11606408)_(11615984_?)del
NC_000008.10:g.(?_21900440)_(23564111_?)dup
NC_000008.11:g.(?_11703278)_(11759996_?)dup
NC_000008.11:g.(?_11708303)_(11758594_?)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
NC_000015.9:g.(?_96875335)_(96880851_?)dup
NC_000018.9:g.(?_19383858)_(19780786_?)dup
NC_000018.9:g.(?_19780599)_(19780786_?)dup
NM_000501.4(ELN):c.328G>A (p.Ala110Thr) rs137953195
NM_001077653.2(TBX20):c.-517C>T rs483353001
NM_001077653.2(TBX20):c.1003+99C>T rs483353007
NM_001077653.2(TBX20):c.1108A>C (p.Thr370Pro) rs483352998
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.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.757A>G (p.Thr253Ala) rs2546993198
NM_001077653.2(TBX20):c.818C>T (p.Thr273Met) rs1554286367
NM_001077653.2(TBX20):c.925T>G (p.Tyr309Asp) rs111862418
NM_001077653.2:c.(?_-1)_(890+1_891-1)del
NM_001136271.3(NKX2-6):c.142G>T (p.Ala48Ser) rs764430720
NM_001136271.3(NKX2-6):c.168C>A (p.His56Gln) rs1801092012
NM_001136271.3(NKX2-6):c.250G>C (p.Asp84His)
NM_001136271.3(NKX2-6):c.281G>T (p.Gly94Val) rs1801035668
NM_001136271.3(NKX2-6):c.298C>A (p.Pro100Thr) rs61740725
NM_001136271.3(NKX2-6):c.315del (p.Arg106fs) rs1351971750
NM_001136271.3(NKX2-6):c.340A>C (p.Asn114His) rs931354964
NM_001136271.3(NKX2-6):c.340_348dup (p.Asn114_Gly116dup) rs780012501
NM_001136271.3(NKX2-6):c.349G>C (p.Asp117His)
NM_001136271.3(NKX2-6):c.364G>T (p.Gly122Cys) rs772831506
NM_001136271.3(NKX2-6):c.367C>G (p.Arg123Gly) rs1451266541
NM_001136271.3(NKX2-6):c.415T>C (p.Phe139Leu) rs913676984
NM_001136271.3(NKX2-6):c.464G>C (p.Arg155Pro) rs534202593
NM_001136271.3(NKX2-6):c.478C>T (p.Pro160Ser) rs1461236642
NM_001136271.3(NKX2-6):c.543G>C (p.Gln181His) rs1801027083
NM_001136271.3(NKX2-6):c.620G>A (p.Arg207Gln) rs1801025693
NM_001136271.3(NKX2-6):c.62G>T (p.Arg21Leu)
NM_001136271.3(NKX2-6):c.634G>T (p.Val212Phe)
NM_001136271.3(NKX2-6):c.769G>C (p.Gly257Arg)
NM_001136271.3(NKX2-6):c.86_87insT (p.Pro30fs) rs2486489661
NM_001256071.3(RNF213):c.11659A>G (p.Lys3887Glu) rs1555673862
NM_001308093.3(GATA4):c.-2_5del (p.Met1fs) rs2486778257
NM_001308093.3(GATA4):c.1000+5G>A rs2486996945
NM_001308093.3(GATA4):c.1003C>T (p.Pro335Ser) rs1188397343
NM_001308093.3(GATA4):c.1010G>A (p.Gly337Asp)
NM_001308093.3(GATA4):c.1012_1014del (p.Ser338del)
NM_001308093.3(GATA4):c.1013G>A (p.Ser338Asn)
NM_001308093.3(GATA4):c.1014del (p.Ser338fs) rs2130347583
NM_001308093.3(GATA4):c.1020C>G (p.Ser340Arg)
NM_001308093.3(GATA4):c.1042TCCAGCAAC[1] (p.348SSN[1]) rs1216514150
NM_001308093.3(GATA4):c.1067C>T (p.Thr356Ile)
NM_001308093.3(GATA4):c.1069A>G (p.Ser357Gly) rs1165825689
NM_001308093.3(GATA4):c.1069A>T (p.Ser357Cys) rs1165825689
NM_001308093.3(GATA4):c.106C>T (p.Pro36Ser) rs1431477414
NM_001308093.3(GATA4):c.1070G>C (p.Ser357Thr)
NM_001308093.3(GATA4):c.1073G>T (p.Ser358Ile)
NM_001308093.3(GATA4):c.1077C>G (p.Ser359Arg) rs375407669
NM_001308093.3(GATA4):c.1081G>A (p.Glu361Lys)
NM_001308093.3(GATA4):c.1081G>C (p.Glu361Gln) rs141808522
NM_001308093.3(GATA4):c.1082A>G (p.Glu361Gly)
NM_001308093.3(GATA4):c.1090C>G (p.Pro364Ala)
NM_001308093.3(GATA4):c.1094T>C (p.Ile365Thr)
NM_001308093.3(GATA4):c.1099A>G (p.Thr367Ala)
NM_001308093.3(GATA4):c.1100C>G (p.Thr367Arg) rs781198110
NM_001308093.3(GATA4):c.1105C>T (p.Pro369Ser)
NM_001308093.3(GATA4):c.1109G>C (p.Gly370Ala)
NM_001308093.3(GATA4):c.1109G>T (p.Gly370Val) rs146685461
NM_001308093.3(GATA4):c.1120C>T (p.His374Tyr) rs913225830
NM_001308093.3(GATA4):c.1123_1125del (p.Tyr375del) rs1585703515
NM_001308093.3(GATA4):c.1125C>A (p.Tyr375Ter)
NM_001308093.3(GATA4):c.1126G>T (p.Gly376Trp) rs149872786
NM_001308093.3(GATA4):c.1131C>G (p.His377Gln) rs116414842
NM_001308093.3(GATA4):c.1136G>A (p.Ser379Asn) rs878854481
NM_001308093.3(GATA4):c.1147C>G (p.Gln383Glu) rs1261254842
NM_001308093.3(GATA4):c.1149G>C (p.Gln383His) rs751950851
NM_001308093.3(GATA4):c.1150-3C>G rs2486050825
NM_001308093.3(GATA4):c.1155C>G (p.Phe385Leu) rs957671450
NM_001308093.3(GATA4):c.1166C>T (p.Ala389Val) rs376885265
NM_001308093.3(GATA4):c.1175G>T (p.Gly392Val) rs147093296
NM_001308093.3(GATA4):c.1178A>G (p.His393Arg) rs766572598
NM_001308093.3(GATA4):c.1178A>T (p.His393Leu) rs766572598
NM_001308093.3(GATA4):c.1181G>T (p.Gly394Val) rs1000341752
NM_001308093.3(GATA4):c.118C>T (p.Pro40Ser) rs968942677
NM_001308093.3(GATA4):c.1198G>C (p.Val400Leu) rs955705458
NM_001308093.3(GATA4):c.1198G>T (p.Val400Phe) rs955705458
NM_001308093.3(GATA4):c.1199T>C (p.Val400Ala) rs2130355308
NM_001308093.3(GATA4):c.11G>A (p.Ser4Asn) rs1421266458
NM_001308093.3(GATA4):c.1201C>G (p.Leu401Val) rs1563234584
NM_001308093.3(GATA4):c.1208C>A (p.Ala403Asp) rs1563234610
NM_001308093.3(GATA4):c.1210C>A (p.Leu404Met) rs777778466
NM_001308093.3(GATA4):c.1222C>G (p.Pro408Ala) rs1585706968
NM_001308093.3(GATA4):c.1223C>G (p.Pro408Arg) rs115099192
NM_001308093.3(GATA4):c.1225C>T (p.Gln409Ter) rs1802712072
NM_001308093.3(GATA4):c.1229G>A (p.Gly410Asp)
NM_001308093.3(GATA4):c.1232A>G (p.Tyr411Cys) rs909187176
NM_001308093.3(GATA4):c.1232A>T (p.Tyr411Phe) rs909187176
NM_001308093.3(GATA4):c.1240C>T (p.Pro414Ser)
NM_001308093.3(GATA4):c.1241C>G (p.Pro414Arg) rs773626580
NM_001308093.3(GATA4):c.1243G>C (p.Val415Leu) rs900347264
NM_001308093.3(GATA4):c.125C>G (p.Pro42Arg) rs766590532
NM_001308093.3(GATA4):c.125C>T (p.Pro42Leu) rs766590532
NM_001308093.3(GATA4):c.1268C>G (p.Ser423Cys) rs1343825404
NM_001308093.3(GATA4):c.1273C>G (p.Gln425Glu)
NM_001308093.3(GATA4):c.1286A>G (p.Asn429Ser) rs76332456
NM_001308093.3(GATA4):c.1289G>A (p.Ser430Asn) rs2486051732
NM_001308093.3(GATA4):c.12C>A (p.Ser4Arg) rs1247823780
NM_001308093.3(GATA4):c.1308T>A (p.Ser436Arg) rs769268482
NM_001308093.3(GATA4):c.1311C>G (p.His437Gln) rs779684582
NM_001308093.3(GATA4):c.1312G>A (p.Gly438Arg) rs748737164
NM_001308093.3(GATA4):c.1315G>A (p.Asp439Asn) rs149351193
NM_001308093.3(GATA4):c.1315G>C (p.Asp439His) rs149351193
NM_001308093.3(GATA4):c.1318A>T (p.Ile440Leu) rs772619099
NM_001308093.3(GATA4):c.1319T>G (p.Ile440Arg)
NM_001308093.3(GATA4):c.1321A>G (p.Ile441Val) rs2130356211
NM_001308093.3(GATA4):c.1328C>T (p.Ala443Val) rs146017816
NM_001308093.3(GATA4):c.142G>A (p.Val48Met) rs773581495
NM_001308093.3(GATA4):c.143T>C (p.Val48Ala) rs1272999942
NM_001308093.3(GATA4):c.148G>C (p.Gly50Arg) rs1799999337
NM_001308093.3(GATA4):c.149G>C (p.Gly50Ala) rs570058215
NM_001308093.3(GATA4):c.179G>C (p.Gly60Ala) rs1451316561
NM_001308093.3(GATA4):c.184G>C (p.Ala62Pro)
NM_001308093.3(GATA4):c.190G>C (p.Gly64Arg) rs2486779574
NM_001308093.3(GATA4):c.191G>T (p.Gly64Val) rs1249347695
NM_001308093.3(GATA4):c.196G>A (p.Ala66Thr)
NM_001308093.3(GATA4):c.200C>T (p.Ser67Leu) rs758170804
NM_001308093.3(GATA4):c.205G>A (p.Gly69Ser) rs1326304521
NM_001308093.3(GATA4):c.22G>T (p.Ala8Ser) rs1386678141
NM_001308093.3(GATA4):c.230G>T (p.Gly77Val) rs1800005049
NM_001308093.3(GATA4):c.232G>T (p.Ala78Ser) rs2486779914
NM_001308093.3(GATA4):c.236G>C (p.Gly79Ala) rs1015136328
NM_001308093.3(GATA4):c.236G>T (p.Gly79Val) rs1015136328
NM_001308093.3(GATA4):c.248A>C (p.Gln83Pro) rs2486780069
NM_001308093.3(GATA4):c.251A>G (p.Gln84Arg) rs899093640
NM_001308093.3(GATA4):c.259C>G (p.Pro87Ala) rs2130068941
NM_001308093.3(GATA4):c.270_271delinsTA (p.Gln91Lys) rs2130069025
NM_001308093.3(GATA4):c.274G>A (p.Ala92Thr) rs2130069057
NM_001308093.3(GATA4):c.275C>A (p.Ala92Glu) rs2486780265
NM_001308093.3(GATA4):c.281C>T (p.Ala94Val)
NM_001308093.3(GATA4):c.286G>A (p.Gly96Arg) rs2130069132
NM_001308093.3(GATA4):c.302C>T (p.Pro101Leu) rs1800009411
NM_001308093.3(GATA4):c.307C>G (p.Pro103Ala) rs1800009849
NM_001308093.3(GATA4):c.308C>G (p.Pro103Arg) rs2130069373
NM_001308093.3(GATA4):c.310G>A (p.Val104Met) rs1303939384
NM_001308093.3(GATA4):c.310G>C (p.Val104Leu) rs1303939384
NM_001308093.3(GATA4):c.316C>G (p.Pro106Ala) rs2130069427
NM_001308093.3(GATA4):c.317C>A (p.Pro106Gln) rs1800010393
NM_001308093.3(GATA4):c.317C>G (p.Pro106Arg) rs1800010393
NM_001308093.3(GATA4):c.31C>A (p.His11Asn) rs1350855665
NM_001308093.3(GATA4):c.326C>G (p.Ser109Cys) rs1554488532
NM_001308093.3(GATA4):c.32A>C (p.His11Pro) rs1585594672
NM_001308093.3(GATA4):c.330C>A (p.Phe110Leu) rs779273192
NM_001308093.3(GATA4):c.335G>C (p.Gly112Ala) rs2486780621
NM_001308093.3(GATA4):c.343G>T (p.Gly115Trp) rs1488801698
NM_001308093.3(GATA4):c.34G>T (p.Gly12Trp) rs750597721
NM_001308093.3(GATA4):c.357CGC[2] (p.Ala125_Ala126del) rs1182566703
NM_001308093.3(GATA4):c.357CGC[5] (p.Ala126dup) rs1182566703
NM_001308093.3(GATA4):c.358_393dup (p.Ala120_Ala131dup) rs1800012863
NM_001308093.3(GATA4):c.359C>T (p.Ala120Val)
NM_001308093.3(GATA4):c.360_374dup (p.Ala126_Arg127insAlaAlaAlaAlaAla) rs2486780753
NM_001308093.3(GATA4):c.364_378dup (p.Ala126_Arg127insAlaAlaAlaAlaAla)
NM_001308093.3(GATA4):c.367G>C (p.Ala123Pro) rs2486780824
NM_001308093.3(GATA4):c.369_374dup (p.Ala125_Ala126dup) rs1462657175
NM_001308093.3(GATA4):c.379C>G (p.Arg127Gly)
NM_001308093.3(GATA4):c.37C>T (p.Pro13Ser)
NM_001308093.3(GATA4):c.395A>G (p.Tyr132Cys) rs2486780988
NM_001308093.3(GATA4):c.399C>A (p.Ser133Arg) rs1362379796
NM_001308093.3(GATA4):c.400A>T (p.Ser134Cys) rs1295769704
NM_001308093.3(GATA4):c.404G>T (p.Gly135Val) rs1386927055
NM_001308093.3(GATA4):c.406G>A (p.Gly136Ser)
NM_001308093.3(GATA4):c.406G>C (p.Gly136Arg) rs1161266023
NM_001308093.3(GATA4):c.413C>A (p.Ala138Glu) rs2486781092
NM_001308093.3(GATA4):c.413C>G (p.Ala138Gly)
NM_001308093.3(GATA4):c.424G>A (p.Gly142Ser) rs1585596441
NM_001308093.3(GATA4):c.427C>G (p.Leu143Val)
NM_001308093.3(GATA4):c.428_436dup (p.Leu143_Gly145dup) rs2130070508
NM_001308093.3(GATA4):c.430G>A (p.Ala144Thr) rs1264069950
NM_001308093.3(GATA4):c.437G>A (p.Arg146His)
NM_001308093.3(GATA4):c.439G>A (p.Glu147Lys) rs1800019519
NM_001308093.3(GATA4):c.43C>T (p.Pro15Ser) rs1799990782
NM_001308093.3(GATA4):c.441G>C (p.Glu147Asp)
NM_001308093.3(GATA4):c.443A>C (p.Gln148Pro) rs1800019742
NM_001308093.3(GATA4):c.443A>T (p.Gln148Leu) rs1800019742
NM_001308093.3(GATA4):c.448G>A (p.Gly150Arg) rs1024075653
NM_001308093.3(GATA4):c.448G>C (p.Gly150Arg) rs1024075653
NM_001308093.3(GATA4):c.451C>A (p.Arg151Ser) rs2486781481
NM_001308093.3(GATA4):c.454_455delinsTT (p.Ala152Phe) rs1800020370
NM_001308093.3(GATA4):c.46G>T (p.Gly16Cys)
NM_001308093.3(GATA4):c.470C>G (p.Ser157Cys)
NM_001308093.3(GATA4):c.476C>A (p.Ser159Tyr) rs1247038472
NM_001308093.3(GATA4):c.508G>C (p.Gly170Arg) rs1800024355
NM_001308093.3(GATA4):c.525_527dup (p.Ala179_Ser180insAla) rs1297855817
NM_001308093.3(GATA4):c.525_530dup (p.Ala178_Ala179dup) rs1554488651
NM_001308093.3(GATA4):c.525_533dup (p.Ala177_Ala179dup) rs1372778585
NM_001308093.3(GATA4):c.526GCC[1] (p.Ala177_Ala179del) rs766802125
NM_001308093.3(GATA4):c.526GCC[5] (p.Ala179_Ser180insAla) rs766802125
NM_001308093.3(GATA4):c.526GCC[6] (p.Ala179_Ser180insAlaAla)
NM_001308093.3(GATA4):c.526GCC[7] (p.Ala177_Ala179dup) rs766802125
NM_001308093.3(GATA4):c.529G>A (p.Ala177Thr) rs2486782408
NM_001308093.3(GATA4):c.532G>T (p.Ala178Ser) rs1800026498
NM_001308093.3(GATA4):c.533C>T (p.Ala178Val) rs1229035049
NM_001308093.3(GATA4):c.538_543dup (p.Ser180_Ala181dup) rs1800026723
NM_001308093.3(GATA4):c.541G>T (p.Ala181Ser)
NM_001308093.3(GATA4):c.542C>T (p.Ala181Val) rs1800027233
NM_001308093.3(GATA4):c.545G>A (p.Gly182Asp) rs1800027591
NM_001308093.3(GATA4):c.548C>T (p.Pro183Leu) rs1800027710
NM_001308093.3(GATA4):c.557G>T (p.Ser186Ile)
NM_001308093.3(GATA4):c.560C>G (p.Pro187Arg) rs1800028058
NM_001308093.3(GATA4):c.560C>T (p.Pro187Leu) rs1800028058
NM_001308093.3(GATA4):c.562G>T (p.Val188Phe)
NM_001308093.3(GATA4):c.570C>A (p.His190Gln)
NM_001308093.3(GATA4):c.577C>T (p.Pro193Ser) rs1392529691
NM_001308093.3(GATA4):c.580G>C (p.Gly194Arg)
NM_001308093.3(GATA4):c.584G>A (p.Arg195Gln)
NM_001308093.3(GATA4):c.584G>C (p.Arg195Pro) rs1334859780
NM_001308093.3(GATA4):c.586G>C (p.Ala196Pro) rs1371654056
NM_001308093.3(GATA4):c.590A>T (p.Asn197Ile) rs1050253618
NM_001308093.3(GATA4):c.607C>T (p.Pro203Ser) rs2486783043
NM_001308093.3(GATA4):c.610A>G (p.Asn204Asp)
NM_001308093.3(GATA4):c.611A>T (p.Asn204Ile) rs562967066
NM_001308093.3(GATA4):c.615C>T (p.Leu205=) rs756903507
NM_001308093.3(GATA4):c.616+3G>A rs1800033657
NM_001308093.3(GATA4):c.617T>G (p.Val206Gly)
NM_001308093.3(GATA4):c.623T>A (p.Met208Lys) rs140892695
NM_001308093.3(GATA4):c.629A>T (p.Asp210Val) rs1802160167
NM_001308093.3(GATA4):c.631G>T (p.Asp211Tyr) rs377673676
NM_001308093.3(GATA4):c.635_637del (p.Phe212del) rs1402881646
NM_001308093.3(GATA4):c.638C>T (p.Ser213Leu) rs1350803700
NM_001308093.3(GATA4):c.64G>T (p.Gly22Cys) rs2486778757
NM_001308093.3(GATA4):c.65G>T (p.Gly22Val) rs758117613
NM_001308093.3(GATA4):c.667G>A (p.Ala223Thr) rs1585684709
NM_001308093.3(GATA4):c.67C>T (p.Pro23Ser) rs954460490
NM_001308093.3(GATA4):c.680C>T (p.Pro227Leu) rs2130306950
NM_001308093.3(GATA4):c.682C>T (p.Leu228Phe)
NM_001308093.3(GATA4):c.692G>A (p.Arg231Gln) rs2486967128
NM_001308093.3(GATA4):c.695A>T (p.Asp232Val)
NM_001308093.3(GATA4):c.701C>A (p.Thr234Lys)
NM_001308093.3(GATA4):c.70G>A (p.Gly24Ser) rs777394438
NM_001308093.3(GATA4):c.710A>G (p.Tyr237Cys)
NM_001308093.3(GATA4):c.716G>T (p.Cys239Phe) rs2486967256
NM_001308093.3(GATA4):c.728G>A (p.Gly243Asp)
NM_001308093.3(GATA4):c.730C>G (p.Leu244Val) rs781583541
NM_001308093.3(GATA4):c.740A>G (p.Lys247Arg)
NM_001308093.3(GATA4):c.743T>C (p.Met248Thr) rs1131691325
NM_001308093.3(GATA4):c.747C>A (p.Asn249Lys) rs140212153
NM_001308093.3(GATA4):c.748G>T (p.Gly250Cys) rs1431297203
NM_001308093.3(GATA4):c.74C>G (p.Ala25Gly)
NM_001308093.3(GATA4):c.758G>A (p.Arg253Gln)
NM_001308093.3(GATA4):c.761C>T (p.Pro254Leu) rs771792843
NM_001308093.3(GATA4):c.766A>G (p.Ile256Val) rs914253048
NM_001308093.3(GATA4):c.773C>G (p.Pro258Arg) rs753457161
NM_001308093.3(GATA4):c.778C>G (p.Arg260Gly) rs1437389442
NM_001308093.3(GATA4):c.778C>T (p.Arg260Cys) rs1437389442
NM_001308093.3(GATA4):c.781C>T (p.Arg261Trp) rs2486967708
NM_001308093.3(GATA4):c.786+16G>T rs200555437
NM_001308093.3(GATA4):c.790G>A (p.Ala264Thr)
NM_001308093.3(GATA4):c.790G>T (p.Ala264Ser) rs201520087
NM_001308093.3(GATA4):c.794C>G (p.Ser265Cys) rs1563228364
NM_001308093.3(GATA4):c.802G>C (p.Val268Leu) rs116781972
NM_001308093.3(GATA4):c.82C>T (p.His28Tyr) rs1406275331
NM_001308093.3(GATA4):c.832A>C (p.Thr278Pro)
NM_001308093.3(GATA4):c.832A>G (p.Thr278Ala) rs761129819
NM_001308093.3(GATA4):c.836C>T (p.Thr279Ile) rs1203275387
NM_001308093.3(GATA4):c.841A>T (p.Thr281Ser) rs1356876573
NM_001308093.3(GATA4):c.842C>T (p.Thr281Met) rs387906771
NM_001308093.3(GATA4):c.853C>T (p.Arg285Cys) rs2130313262
NM_001308093.3(GATA4):c.85G>A (p.Gly29Ser) rs1053092495
NM_001308093.3(GATA4):c.86_88del (p.Gly29del)
NM_001308093.3(GATA4):c.898A>G (p.Met300Val)
NM_001308093.3(GATA4):c.89C>T (p.Ala30Val) rs749821814
NM_001308093.3(GATA4):c.912+4C>A rs374161282
NM_001308093.3(GATA4):c.912+4C>T rs374161282
NM_001308093.3(GATA4):c.912+5G>T rs371005520
NM_001308093.3(GATA4):c.912G>A (p.Gly304=) rs773684507
NM_001308093.3(GATA4):c.913-3C>T rs750413934
NM_001308093.3(GATA4):c.920G>A (p.Arg307Lys) rs1554498327
NM_001308093.3(GATA4):c.923C>T (p.Pro308Leu) rs2486996437
NM_001308093.3(GATA4):c.931A>C (p.Met311Leu) rs387906772
NM_001308093.3(GATA4):c.934C>T (p.Arg312Trp) rs138404762
NM_001308093.3(GATA4):c.935G>A (p.Arg312Gln) rs1585698628
NM_001308093.3(GATA4):c.949C>G (p.Gln317Glu) rs56298569
NM_001308093.3(GATA4):c.956G>A (p.Arg319Lys) rs1554498346
NM_001308093.3(GATA4):c.961C>T (p.Arg321Trp) rs1282433424
NM_001308093.3(GATA4):c.962G>A (p.Arg321Gln) rs2130338262
NM_001308093.3(GATA4):c.973A>G (p.Asn325Asp) rs2130338330
NM_001308093.3(GATA4):c.990G>C (p.Lys330Asn) rs2486996840
NM_001308093.3(GATA4):c.991A>T (p.Thr331Ser) rs2486996851
NM_001379200.1(TBX1):c.1073C>G (p.Ala358Gly) rs1452987245
NM_001379200.1(TBX1):c.1076G>A (p.Gly359Asp) rs781731042
NM_001379200.1(TBX1):c.1149_1150insAGGGCCGGC (p.Pro383_Gly384insArgAlaGly) rs1192078635
NM_001379200.1(TBX1):c.1153GCCGGCGGC[1] (p.385AGG[1]) rs1288296547
NM_001379200.1(TBX1):c.1380T>G (p.His460Gln) rs367711718
NM_001379200.1(TBX1):c.152_232del (p.Glu51_His77del) rs1601282938
NM_001379200.1(TBX1):c.823G>A (p.Glu275Lys) rs144848597
NM_001379200.1(TBX1):c.902C>G (p.Ala301Gly) rs1936812731
NM_001379200.1(TBX1):c.920G>C (p.Cys307Ser)
NM_001999.4(FBN2):c.7663A>G (p.Thr2555Ala) rs1765343397
NM_002332.3(LRP1):c.13559C>G (p.Ser4520Cys) rs1396150729
NM_002332.3(LRP1):c.1576C>G (p.Leu526Val) rs770169648
NM_002430.3(MN1):c.3839del (p.Cys1280fs) rs1601319594
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 rs1595062631
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.1673T>G (p.Leu558Arg)
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.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.3297_3302delinsACAGGC (p.Val1101Ala)
NM_002471.4(MYH6):c.3346C>T (p.Arg1116Cys) rs372446459
NM_002471.4(MYH6):c.3352G>A (p.Glu1118Lys) rs750174797
NM_002471.4(MYH6):c.3447C>T (p.Ser1149=) rs564367705
NM_002471.4(MYH6):c.346-7_349del
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) rs2502156044
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.4100A>G (p.Asn1367Ser) rs1710268561
NM_002471.4(MYH6):c.427C>T (p.Arg143Trp) rs2277473
NM_002471.4(MYH6):c.4303G>C (p.Glu1435Gln)
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.4527G>T (p.Glu1509Asp)
NM_002471.4(MYH6):c.4685G>T (p.Arg1562Leu) rs371068881
NM_002471.4(MYH6):c.478A>G (p.Asn160Asp) rs2502207410
NM_002471.4(MYH6):c.4959G>A (p.Lys1653=)
NM_002471.4(MYH6):c.5002G>C (p.Asp1668His) rs200884672
NM_002471.4(MYH6):c.502G>C (p.Asp168His) rs145149045
NM_002471.4(MYH6):c.5392C>T (p.Arg1798Trp) rs767251436
NM_002471.4(MYH6):c.5513_5525del (p.Glu1837_Ser1838insTer) rs781119192
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.616AAG[1] (p.Lys207del) rs1404018896
NM_002471.4(MYH6):c.644G>T (p.Gly215Val) rs1323504358
NM_002471.4(MYH6):c.646A>G (p.Thr216Ala)
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) rs948440843
NM_004387.4(NKX2-5):c.10A>G (p.Ser4Gly) rs1270909226
NM_004387.4(NKX2-5):c.116C>G (p.Ala39Gly) rs1234717083
NM_004387.4(NKX2-5):c.124G>A (p.Ala42Thr) rs113818864
NM_004387.4(NKX2-5):c.125C>T (p.Ala42Val) rs1761439619
NM_004387.4(NKX2-5):c.133T>C (p.Ser45Pro) rs779548360
NM_004387.4(NKX2-5):c.143T>C (p.Leu48Pro) rs1284932088
NM_004387.4(NKX2-5):c.14C>G (p.Pro5Arg) rs2480080911
NM_004387.4(NKX2-5):c.156G>T (p.Lys52Asn) rs1405115548
NM_004387.4(NKX2-5):c.167A>G (p.Tyr56Cys) rs1360861650
NM_004387.4(NKX2-5):c.169G>C (p.Ala57Pro) rs549161381
NM_004387.4(NKX2-5):c.172G>A (p.Gly58Arg)
NM_004387.4(NKX2-5):c.178G>A (p.Glu60Lys) rs766199339
NM_004387.4(NKX2-5):c.178G>C (p.Glu60Gln) rs766199339
NM_004387.4(NKX2-5):c.187G>A (p.Ala63Thr)
NM_004387.4(NKX2-5):c.194G>A (p.Gly65Asp)
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) rs772542981
NM_004387.4(NKX2-5):c.224G>T (p.Arg75Leu) rs1363174603
NM_004387.4(NKX2-5):c.227C>A (p.Ala76Glu) rs1761435522
NM_004387.4(NKX2-5):c.229C>T (p.Pro77Ser) rs771593440
NM_004387.4(NKX2-5):c.236C>A (p.Pro79Gln) rs777921797
NM_004387.4(NKX2-5):c.23C>G (p.Thr8Arg) rs768954078
NM_004387.4(NKX2-5):c.248C>G (p.Ala83Gly) rs1182777346
NM_004387.4(NKX2-5):c.259C>A (p.Pro87Thr)
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) rs2480079424
NM_004387.4(NKX2-5):c.280C>T (p.Pro94Ser) rs1009994744
NM_004387.4(NKX2-5):c.283C>G (p.Arg95Gly) rs1244289450
NM_004387.4(NKX2-5):c.287C>T (p.Ala96Val) rs760088847
NM_004387.4(NKX2-5):c.299C>T (p.Pro100Leu) rs2480079313
NM_004387.4(NKX2-5):c.302A>G (p.Asp101Gly) rs2480079285
NM_004387.4(NKX2-5):c.302A>T (p.Asp101Val) rs2480079285
NM_004387.4(NKX2-5):c.322G>A (p.Ala108Thr) rs749816778
NM_004387.4(NKX2-5):c.322G>C (p.Ala108Pro)
NM_004387.4(NKX2-5):c.334+6G>C
NM_004387.4(NKX2-5):c.335-3C>T rs876657934
NM_004387.4(NKX2-5):c.340T>G (p.Cys114Gly) rs2480073753
NM_004387.4(NKX2-5):c.342C>G (p.Cys114Trp) rs760723447
NM_004387.4(NKX2-5):c.367G>A (p.Glu123Lys) rs1466216124
NM_004387.4(NKX2-5):c.377A>C (p.Glu126Ala) rs1320947604
NM_004387.4(NKX2-5):c.385A>T (p.Asn129Tyr) rs758000160
NM_004387.4(NKX2-5):c.387C>A (p.Asn129Lys) rs750029908
NM_004387.4(NKX2-5):c.387C>G (p.Asn129Lys)
NM_004387.4(NKX2-5):c.400C>G (p.Arg134Gly) rs1248623506
NM_004387.4(NKX2-5):c.401G>A (p.Arg134Gln) rs1182433334
NM_004387.4(NKX2-5):c.402_407dup (p.Ala135_Arg136dup) rs1554093512
NM_004387.4(NKX2-5):c.412C>T (p.Arg138Trp)
NM_004387.4(NKX2-5):c.413G>T (p.Arg138Leu)
NM_004387.4(NKX2-5):c.416G>A (p.Arg139Lys) rs759682128
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>G (p.Leu144Val)
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.446A>C (p.Gln149Pro)
NM_004387.4(NKX2-5):c.447G>C (p.Gln149His) rs1230869762
NM_004387.4(NKX2-5):c.452A>G (p.Tyr151Cys)
NM_004387.4(NKX2-5):c.457_459dup (p.Leu153_Glu154insLeu)
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.477G>T (p.Gln159His) rs1299817619
NM_004387.4(NKX2-5):c.481C>G (p.Arg161Gly) rs2113901789
NM_004387.4(NKX2-5):c.481C>T (p.Arg161Trp)
NM_004387.4(NKX2-5):c.484T>A (p.Tyr162Asn) rs2480073166
NM_004387.4(NKX2-5):c.492_494del (p.Ala165del) rs2480073115
NM_004387.4(NKX2-5):c.494C>A (p.Ala165Asp) rs984722259
NM_004387.4(NKX2-5):c.494C>G (p.Ala165Gly) rs984722259
NM_004387.4(NKX2-5):c.499G>A (p.Glu167Lys) rs1761357696
NM_004387.4(NKX2-5):c.512T>A (p.Leu171Gln) rs797045791
NM_004387.4(NKX2-5):c.514G>A (p.Ala172Thr) rs878854704
NM_004387.4(NKX2-5):c.520G>A (p.Val174Met) rs1238421153
NM_004387.4(NKX2-5):c.524T>C (p.Leu175Pro) rs1761356915
NM_004387.4(NKX2-5):c.535T>C (p.Ser179Pro)
NM_004387.4(NKX2-5):c.547A>C (p.Lys183Gln) rs137852686
NM_004387.4(NKX2-5):c.548A>G (p.Lys183Arg) rs2113901612
NM_004387.4(NKX2-5):c.548_556del (p.Lys183_Phe186delinsIle) rs2480072864
NM_004387.4(NKX2-5):c.549G>C (p.Lys183Asn) rs2480072910
NM_004387.4(NKX2-5):c.550A>C (p.Ile184Leu) rs2480072905
NM_004387.4(NKX2-5):c.551T>A (p.Ile184Asn) rs2480072898
NM_004387.4(NKX2-5):c.556T>C (p.Phe186Leu)
NM_004387.4(NKX2-5):c.559C>G (p.Gln187Glu) rs2480072855
NM_004387.4(NKX2-5):c.559del (p.Gln187fs)
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) rs1197189103
NM_004387.4(NKX2-5):c.583CGGCAG[1] (p.195RQ[1]) rs2480072702
NM_004387.4(NKX2-5):c.584G>C (p.Arg195Pro) rs2480072778
NM_004387.4(NKX2-5):c.590G>C (p.Arg197Pro) rs774482632
NM_004387.4(NKX2-5):c.597C>A (p.Asp199Glu) rs1209480214
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.620T>C (p.Leu207Pro)
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) rs2480072528
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.644C>T (p.Ala215Val)
NM_004387.4(NKX2-5):c.646C>T (p.Arg216Cys) rs104893905
NM_004387.4(NKX2-5):c.649A>G (p.Arg217Gly) rs2480072399
NM_004387.4(NKX2-5):c.64C>G (p.Gln22Glu) rs764389026
NM_004387.4(NKX2-5):c.658G>A (p.Val220Met) rs2480072347
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) rs2113901265
NM_004387.4(NKX2-5):c.685C>G (p.Pro229Ala) rs2113901265
NM_004387.4(NKX2-5):c.701C>G (p.Ser234Trp) rs773922431
NM_004387.4(NKX2-5):c.701C>T (p.Ser234Leu) rs773922431
NM_004387.4(NKX2-5):c.709T>C (p.Tyr237His) rs1761349696
NM_004387.4(NKX2-5):c.713C>T (p.Ala238Val) rs1470284025
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) rs2480072057
NM_004387.4(NKX2-5):c.733C>G (p.Leu245Val) rs1761348880
NM_004387.4(NKX2-5):c.733C>T (p.Leu245Phe) rs1761348880
NM_004387.4(NKX2-5):c.736A>G (p.Asn246Asp) rs2480072027
NM_004387.4(NKX2-5):c.739C>G (p.Pro247Ala) rs780348618
NM_004387.4(NKX2-5):c.743A>G (p.Tyr248Cys) rs1131691343
NM_004387.4(NKX2-5):c.74G>T (p.Arg25Leu)
NM_004387.4(NKX2-5):c.751A>G (p.Asn251Asp) rs1761348325
NM_004387.4(NKX2-5):c.752A>G (p.Asn251Ser) rs1327849028
NM_004387.4(NKX2-5):c.769C>G (p.Pro257Ala) rs387906776
NM_004387.4(NKX2-5):c.796C>T (p.Pro266Ser)
NM_004387.4(NKX2-5):c.799G>A (p.Gly267Ser) rs780688010
NM_004387.4(NKX2-5):c.822C>A (p.Tyr274Ter) rs2480071578
NM_004387.4(NKX2-5):c.822C>G (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) rs1266892994
NM_004387.4(NKX2-5):c.842C>T (p.Ala281Val) rs1206339157
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) rs375086983
NM_004387.4(NKX2-5):c.848C>T (p.Pro283Leu) rs375086983
NM_004387.4(NKX2-5):c.851C>T (p.Ala284Val) rs1761344289
NM_004387.4(NKX2-5):c.857C>T (p.Ala286Val) rs1761344116
NM_004387.4(NKX2-5):c.862G>A (p.Ala288Thr) rs746315645
NM_004387.4(NKX2-5):c.865AAC[2] (p.Asn291del) rs756974215
NM_004387.4(NKX2-5):c.867C>A (p.Asn289Lys)
NM_004387.4(NKX2-5):c.871A>T (p.Asn291Tyr) rs1761343333
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.88G>A (p.Ala30Thr) rs1304644050
NM_004387.4(NKX2-5):c.88G>T (p.Ala30Ser)
NM_004387.4(NKX2-5):c.89C>A (p.Ala30Asp) rs1425683417
NM_004387.4(NKX2-5):c.918dup (p.Gly307fs)
NM_004387.4(NKX2-5):c.922A>G (p.Ile308Val) rs2113900634
NM_004387.4(NKX2-5):c.926C>T (p.Pro309Leu) rs2480070851
NM_004387.4(NKX2-5):c.931A>C (p.Ser311Arg) rs1761341308
NM_004387.4(NKX2-5):c.937T>C (p.Ser313Pro)
NM_004387.4(NKX2-5):c.940G>T (p.Gly314Ter) rs1761340979
NM_004387.4(NKX2-5):c.941G>A (p.Gly314Glu) rs200152391
NM_004387.4(NKX2-5):c.947C>A (p.Ser316Tyr) rs1761339954
NM_004387.4(NKX2-5):c.950C>T (p.Thr317Met) rs2113900561
NM_004387.4(NKX2-5):c.952C>G (p.Leu318Val)
NM_004387.4(NKX2-5):c.952_953delinsGC (p.Leu318Ala) rs1581107775
NM_004387.4(NKX2-5):c.957T>A (p.His319Gln) rs1244640427
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) rs2504176088
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) rs2504176005
NM_005159.5(ACTC1):c.1067A>G (p.Gln356Arg) rs2140428997
NM_005159.5(ACTC1):c.106A>C (p.Ile36Leu)
NM_005159.5(ACTC1):c.1070T>C (p.Met357Thr) rs2504175991
NM_005159.5(ACTC1):c.1079G>A (p.Ser360Asn) rs1595759950
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) rs1457769757
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.109G>A (p.Val37Met)
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.1103G>A (p.Gly368Asp) rs2504175913
NM_005159.5(ACTC1):c.1109C>G (p.Ser370Cys) rs1224080351
NM_005159.5(ACTC1):c.1112T>C (p.Ile371Thr) rs730880407
NM_005159.5(ACTC1):c.1120C>T (p.Arg374Cys) rs1891680145
NM_005159.5(ACTC1):c.1129T>G (p.Phe377Val) rs2140428902
NM_005159.5(ACTC1):c.1133A>T (p.Ter378Leu) rs1595759899
NM_005159.5(ACTC1):c.119_129+14del
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.130-3T>C rs745838366
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) rs2504183400
NM_005159.5(ACTC1):c.157G>A (p.Asp53Asn) rs2504183375
NM_005159.5(ACTC1):c.158A>T (p.Asp53Val) rs1555418919
NM_005159.5(ACTC1):c.161C>T (p.Ser54Phe) rs730880391
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.169G>A (p.Gly57Ser)
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.19A>T (p.Thr7Ser) rs746748461
NM_005159.5(ACTC1):c.1A>G (p.Met1Val) rs1891784379
NM_005159.5(ACTC1):c.217A>G (p.Ile73Val) rs750951965
NM_005159.5(ACTC1):c.220G>C (p.Glu74Gln) rs1352413131
NM_005159.5(ACTC1):c.22A>G (p.Thr8Ala) rs730880390
NM_005159.5(ACTC1):c.244G>A (p.Asp82Asn) rs2504183112
NM_005159.5(ACTC1):c.281A>G (p.Asn94Ser) rs767734253
NM_005159.5(ACTC1):c.286C>T (p.Leu96Phe) rs2140431992
NM_005159.5(ACTC1):c.290G>A (p.Arg97His) rs2504182967
NM_005159.5(ACTC1):c.293T>C (p.Val98Ala) rs1555418891
NM_005159.5(ACTC1):c.296C>T (p.Ala99Val) rs2504182948
NM_005159.5(ACTC1):c.298C>A (p.Pro100Thr) rs2504182941
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) rs1368192263
NM_005159.5(ACTC1):c.317_348dup (p.Asn117delinsCysSerGlnArgProArgTer)
NM_005159.5(ACTC1):c.31G>C (p.Val11Leu) rs1794699355
NM_005159.5(ACTC1):c.329C>T (p.Ala110Val) rs2504182825
NM_005159.5(ACTC1):c.332del (p.Pro111fs) rs1891747102
NM_005159.5(ACTC1):c.337A>C (p.Asn113His) rs2504182784
NM_005159.5(ACTC1):c.337A>T (p.Asn113Tyr) rs2504182784
NM_005159.5(ACTC1):c.362T>C (p.Met121Thr) rs1891746619
NM_005159.5(ACTC1):c.365C>T (p.Thr122Ile) rs2504182722
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) rs2504182687
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.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.3G>A (p.Met1Ile)
NM_005159.5(ACTC1):c.409G>A (p.Ala137Thr) rs1891745022
NM_005159.5(ACTC1):c.40A>G (p.Asn14Asp) rs2504185639
NM_005159.5(ACTC1):c.410C>T (p.Ala137Val) rs2140431775
NM_005159.5(ACTC1):c.421G>C (p.Val141Leu) rs2504182572
NM_005159.5(ACTC1):c.424C>G (p.Leu142Val) rs1891744697
NM_005159.5(ACTC1):c.43G>C (p.Gly15Arg) rs2504185628
NM_005159.5(ACTC1):c.440C>G (p.Ser147Cys) rs2504182518
NM_005159.5(ACTC1):c.441del (p.Gly148fs) rs2504182515
NM_005159.5(ACTC1):c.451A>G (p.Thr151Ala) rs2504182488
NM_005159.5(ACTC1):c.452C>T (p.Thr151Ile) rs2504182485
NM_005159.5(ACTC1):c.454G>A (p.Gly152Ser) rs1247069535
NM_005159.5(ACTC1):c.455G>T (p.Gly152Val) rs1891726522
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.475G>A (p.Asp159Asn) rs397517063
NM_005159.5(ACTC1):c.477T>G (p.Asp159Glu) rs886039144
NM_005159.5(ACTC1):c.481G>A (p.Val161Ile) rs2504181180
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.520C>A (p.Pro174Thr) rs2504181072
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) rs730880392
NM_005159.5(ACTC1):c.52C>A (p.Leu18Met) rs2504185604
NM_005159.5(ACTC1):c.532A>T (p.Met178Leu) rs1555418829
NM_005159.5(ACTC1):c.541G>A (p.Asp181Asn) rs730880393
NM_005159.5(ACTC1):c.541G>C (p.Asp181His) rs730880393
NM_005159.5(ACTC1):c.544C>A (p.Leu182Met) rs2504180981
NM_005159.5(ACTC1):c.554G>A (p.Arg185Gln) rs866147243
NM_005159.5(ACTC1):c.554_555delinsTT (p.Arg185Leu)
NM_005159.5(ACTC1):c.556del (p.Asp186fs) rs2504180951
NM_005159.5(ACTC1):c.55G>A (p.Val19Met)
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) rs2504180934
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) rs1566967472
NM_005159.5(ACTC1):c.579G>T (p.Lys193Asn) rs730880395
NM_005159.5(ACTC1):c.582C>G (p.Ile194Met) rs2504180877
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 rs2504180775
NM_005159.5(ACTC1):c.616+4_616+7del rs1891723274
NM_005159.5(ACTC1):c.622C>A (p.Arg208Ser) rs727505179
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.652C>A (p.Leu218Met) rs760269526
NM_005159.5(ACTC1):c.659A>T (p.Tyr220Phe) rs2504180304
NM_005159.5(ACTC1):c.664G>A (p.Ala222Thr) rs1555418793
NM_005159.5(ACTC1):c.668dup (p.Asp224fs)
NM_005159.5(ACTC1):c.671A>G (p.Asp224Gly) rs2504180256
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) rs2504180194
NM_005159.5(ACTC1):c.692C>T (p.Thr231Ile) rs1060502825
NM_005159.5(ACTC1):c.694G>T (p.Ala232Ser)
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.755T>C (p.Ile252Thr) rs730880398
NM_005159.5(ACTC1):c.756T>G (p.Ile252Met) rs371940910
NM_005159.5(ACTC1):c.758G>C (p.Gly253Ala) rs2140430523
NM_005159.5(ACTC1):c.767G>C (p.Arg256Pro)
NM_005159.5(ACTC1):c.776G>C (p.Cys259Ser) rs199566566
NM_005159.5(ACTC1):c.778C>G (p.Pro260Ala) rs2504179867
NM_005159.5(ACTC1):c.784A>T (p.Thr262Ser) rs1060502821
NM_005159.5(ACTC1):c.787C>G (p.Leu263Val)
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[11]
NM_005159.5(ACTC1):c.809-58TG[17] 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[26] rs59431308
NM_005159.5(ACTC1):c.809-58TG[9]
NM_005159.5(ACTC1):c.813G>A (p.Met271Ile) rs1891698673
NM_005159.5(ACTC1):c.813G>T (p.Met271Ile) rs1891698673
NM_005159.5(ACTC1):c.82G>A (p.Ala28Thr) rs2504185511
NM_005159.5(ACTC1):c.836C>A (p.Thr279Lys)
NM_005159.5(ACTC1):c.83C>T (p.Ala28Val) rs397517072
NM_005159.5(ACTC1):c.844_848dup (p.Ser283fs)
NM_005159.5(ACTC1):c.848G>C (p.Ser283Thr) rs2504177659
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) rs869025354
NM_005159.5(ACTC1):c.856A>G (p.Lys286Glu) rs2504177611
NM_005159.5(ACTC1):c.858G>T (p.Lys286Asn)
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.888T>G (p.Tyr296Ter)
NM_005159.5(ACTC1):c.892A>G (p.Asn298Asp) rs1595760259
NM_005159.5(ACTC1):c.895A>T (p.Asn299Tyr)
NM_005159.5(ACTC1):c.898G>A (p.Val300Ile)
NM_005159.5(ACTC1):c.905C>A (p.Ser302Tyr) rs2504177478
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.920T>C (p.Met307Thr)
NM_005159.5(ACTC1):c.922T>C (p.Tyr308His) rs1566967093
NM_005159.5(ACTC1):c.92C>T (p.Ala31Val) rs2504185480
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) rs1555419003
NM_005159.5(ACTC1):c.950A>G (p.Lys317Arg) rs2504177354
NM_005159.5(ACTC1):c.952G>A (p.Glu318Lys) rs730880403
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) rs2504177310
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) rs2504177247
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.990G>A (p.Lys330=) rs2504177206
NM_005159.5(ACTC1):c.991-2del rs2504176181
NM_005159.5(ACTC1):c.991A>G (p.Ile331Val) rs730880405
NM_005159.5(ACTC1):c.991A>T (p.Ile331Phe) rs730880405
NM_005159.5(ACTC1):c.998C>T (p.Ala333Val) rs730880406
NM_005257.6(GATA6):c.1000C>T (p.Pro334Ser) rs1217468846
NM_005257.6(GATA6):c.1015C>T (p.Pro339Ser) rs2033061691
NM_005257.6(GATA6):c.1019A>G (p.Tyr340Cys)
NM_005257.6(GATA6):c.1021G>T (p.Val341Leu) rs1270889195
NM_005257.6(GATA6):c.1024G>A (p.Gly342Arg)
NM_005257.6(GATA6):c.1024G>C (p.Gly342Arg) rs1468414837
NM_005257.6(GATA6):c.1025G>A (p.Gly342Glu) rs1433160408
NM_005257.6(GATA6):c.1031C>T (p.Pro344Leu) rs1598734418
NM_005257.6(GATA6):c.1051G>A (p.Ala351Thr) rs1462457750
NM_005257.6(GATA6):c.1054G>A (p.Gly352Arg) rs1369316608
NM_005257.6(GATA6):c.1066A>C (p.Thr356Pro) rs1442097097
NM_005257.6(GATA6):c.1070C>T (p.Pro357Leu) rs1463147072
NM_005257.6(GATA6):c.1089G>T (p.Gln363His) rs1253142325
NM_005257.6(GATA6):c.1096G>A (p.Ala366Thr) rs1598734465
NM_005257.6(GATA6):c.1099G>A (p.Gly367Arg) rs2510627033
NM_005257.6(GATA6):c.1105C>G (p.Pro369Ala)
NM_005257.6(GATA6):c.1106C>G (p.Pro369Arg) rs1336387938
NM_005257.6(GATA6):c.1112C>G (p.Pro371Arg) rs2510627072
NM_005257.6(GATA6):c.1119_1133dup (p.Ala378_Asp379insArgGlyProSerAla) rs1319655364
NM_005257.6(GATA6):c.1135+6G>A rs1181988327
NM_005257.6(GATA6):c.1135+6G>T rs1181988327
NM_005257.6(GATA6):c.1142T>C (p.Leu381Pro) rs1389738061
NM_005257.6(GATA6):c.1157A>G (p.Glu386Gly) rs1567995562
NM_005257.6(GATA6):c.1195C>T (p.Pro399Ser)
NM_005257.6(GATA6):c.1196C>T (p.Pro399Leu)
NM_005257.6(GATA6):c.119C>T (p.Ser40Phe) rs2033036579
NM_005257.6(GATA6):c.1246C>A (p.Leu416Ile) rs2033130661
NM_005257.6(GATA6):c.1246C>T (p.Leu416Phe) rs2033130661
NM_005257.6(GATA6):c.128C>G (p.Ser43Cys) rs968804836
NM_005257.6(GATA6):c.128CCT[2] (p.Ser45del) rs1201519482
NM_005257.6(GATA6):c.1297C>T (p.Arg433Cys) rs2033131746
NM_005257.6(GATA6):c.1300G>C (p.Val434Leu) rs1177329444
NM_005257.6(GATA6):c.1301T>C (p.Val434Ala) rs2033131897
NM_005257.6(GATA6):c.130T>G (p.Ser44Ala) rs2143273972
NM_005257.6(GATA6):c.1313G>A (p.Arg438Gln) rs777984822
NM_005257.6(GATA6):c.131C>T (p.Ser44Phe)
NM_005257.6(GATA6):c.1336A>G (p.Asn446Asp) rs2143300702
NM_005257.6(GATA6):c.1343A>C (p.His448Pro) rs1380534258
NM_005257.6(GATA6):c.1349C>T (p.Thr450Ile)
NM_005257.6(GATA6):c.134C>T (p.Ser45Phe) rs2510625195
NM_005257.6(GATA6):c.1350_1358del (p.Thr451_Thr453del) rs2033195426
NM_005257.6(GATA6):c.1373A>G (p.Asn458Ser) rs765926114
NM_005257.6(GATA6):c.1382G>T (p.Gly461Val) rs2510631748
NM_005257.6(GATA6):c.140C>G (p.Ser47Cys) rs2510625212
NM_005257.6(GATA6):c.1441C>A (p.Leu481Ile) rs2510632401
NM_005257.6(GATA6):c.1483C>T (p.Pro495Ser)
NM_005257.6(GATA6):c.1488G>T (p.Lys496Asn) rs2510632422
NM_005257.6(GATA6):c.148_159dup (p.Gly53_Pro54insGlyGluArgGly) rs2510625218
NM_005257.6(GATA6):c.1506G>T (p.Lys502Asn) rs1598737982
NM_005257.6(GATA6):c.1515T>G (p.Ser505=) rs770405157
NM_005257.6(GATA6):c.1523G>A (p.Ser508Asn)
NM_005257.6(GATA6):c.1529A>G (p.Asn510Ser) rs2033216974
NM_005257.6(GATA6):c.1549A>G (p.Thr517Ala)
NM_005257.6(GATA6):c.155G>C (p.Arg52Pro) rs541150137
NM_005257.6(GATA6):c.1575T>G (p.Asp525Glu) rs2510632521
NM_005257.6(GATA6):c.157G>A (p.Gly53Ser) rs1311659713
NM_005257.6(GATA6):c.1609A>G (p.Thr537Ala)
NM_005257.6(GATA6):c.160C>T (p.Pro54Ser) rs769197296
NM_005257.6(GATA6):c.1618G>C (p.Gly540Arg) rs1319693692
NM_005257.6(GATA6):c.1621G>A (p.Ala541Thr) rs2143345732
NM_005257.6(GATA6):c.1622C>T (p.Ala541Val) rs1441023437
NM_005257.6(GATA6):c.1631C>A (p.Pro544Gln) rs767156756
NM_005257.6(GATA6):c.1634T>A (p.Val545Glu) rs750440428
NM_005257.6(GATA6):c.1634T>G (p.Val545Gly) rs750440428
NM_005257.6(GATA6):c.1636A>G (p.Met546Val) rs2510640103
NM_005257.6(GATA6):c.163G>A (p.Gly55Ser)
NM_005257.6(GATA6):c.1653G>C (p.Glu551Asp) rs564934973
NM_005257.6(GATA6):c.1654A>G (p.Ser552Gly) rs747690300
NM_005257.6(GATA6):c.1660A>C (p.Asn554His) rs778104955
NM_005257.6(GATA6):c.166G>A (p.Gly56Ser)
NM_005257.6(GATA6):c.1688C>G (p.Ser563Trp) rs759639860
NM_005257.6(GATA6):c.16G>C (p.Gly6Arg) rs139750927
NM_005257.6(GATA6):c.1702C>T (p.Leu568Phe)
NM_005257.6(GATA6):c.1720C>G (p.Leu574Val)
NM_005257.6(GATA6):c.1723G>T (p.Ala575Ser) rs149569288
NM_005257.6(GATA6):c.1754G>A (p.Arg585Gln) rs201707559
NM_005257.6(GATA6):c.1774C>G (p.Leu592Val) rs774669486
NM_005257.6(GATA6):c.1774CTGGCC[3] (p.Ala595_Ter596insLeuAla) rs2510640206
NM_005257.6(GATA6):c.1784C>T (p.Ala595Val) rs2143346650
NM_005257.6(GATA6):c.180C>G (p.Cys60Trp) rs1431278250
NM_005257.6(GATA6):c.182G>A (p.Gly61Glu)
NM_005257.6(GATA6):c.193C>A (p.Leu65Ile) rs2143274330
NM_005257.6(GATA6):c.196G>A (p.Asp66Asn) rs554577705
NM_005257.6(GATA6):c.196G>C (p.Asp66His) rs554577705
NM_005257.6(GATA6):c.199A>G (p.Thr67Ala) rs923229630
NM_005257.6(GATA6):c.19G>A (p.Gly7Ser) rs1453414298
NM_005257.6(GATA6):c.202G>C (p.Glu68Gln) rs1217533762
NM_005257.6(GATA6):c.217C>A (p.Pro73Thr) rs993070434
NM_005257.6(GATA6):c.308G>A (p.Gly103Glu) rs1207902692
NM_005257.6(GATA6):c.329A>G (p.Glu110Gly) rs1413314599
NM_005257.6(GATA6):c.32C>T (p.Pro11Leu) rs1598733637
NM_005257.6(GATA6):c.334_335delinsCG (p.Leu112Arg) rs2510625736
NM_005257.6(GATA6):c.351C>G (p.Asp117Glu) rs1340816195
NM_005257.6(GATA6):c.361G>A (p.Ala121Thr) rs2143275441
NM_005257.6(GATA6):c.364G>A (p.Ala122Thr) rs1245960637
NM_005257.6(GATA6):c.373A>G (p.Ser125Gly) rs759976914
NM_005257.6(GATA6):c.37C>T (p.Arg13Cys)
NM_005257.6(GATA6):c.405G>T (p.Lys135Asn)
NM_005257.6(GATA6):c.422C>G (p.Pro141Arg) rs2033047742
NM_005257.6(GATA6):c.431C>G (p.Pro144Arg) rs754954867
NM_005257.6(GATA6):c.433G>A (p.Glu145Lys) rs1403238515
NM_005257.6(GATA6):c.433G>C (p.Glu145Gln) rs1403238515
NM_005257.6(GATA6):c.447G>C (p.Gln149His) rs2510625841
NM_005257.6(GATA6):c.457G>T (p.Ala153Ser) rs1354600110
NM_005257.6(GATA6):c.460C>G (p.Leu154Val) rs2143275968
NM_005257.6(GATA6):c.481G>A (p.Ala161Thr) rs559922666
NM_005257.6(GATA6):c.490G>A (p.Gly164Ser) rs1162500244
NM_005257.6(GATA6):c.499G>C (p.Gly167Arg) rs770251106
NM_005257.6(GATA6):c.503G>A (p.Gly168Asp) rs917494899
NM_005257.6(GATA6):c.507C>A (p.Phe169Leu) rs980861173
NM_005257.6(GATA6):c.511C>T (p.His171Tyr)
NM_005257.6(GATA6):c.518C>T (p.Ala173Val)
NM_005257.6(GATA6):c.52G>C (p.Gly18Arg) rs2033034160
NM_005257.6(GATA6):c.531_545del (p.Ala179_Ala183del) rs777216159
NM_005257.6(GATA6):c.531_548del (p.Ala178_Ala183del) rs1198054146
NM_005257.6(GATA6):c.540GGC[4] (p.Ala183dup) rs762101807
NM_005257.6(GATA6):c.557C>G (p.Pro186Arg) rs1385341551
NM_005257.6(GATA6):c.584G>C (p.Gly195Ala)
NM_005257.6(GATA6):c.589A>G (p.Met197Val) rs1245355073
NM_005257.6(GATA6):c.591G>A (p.Met197Ile)
NM_005257.6(GATA6):c.592C>A (p.Leu198Met) rs387906814
NM_005257.6(GATA6):c.629G>C (p.Ser210Thr) rs2143276783
NM_005257.6(GATA6):c.631G>C (p.Gly211Arg) rs1375177355
NM_005257.6(GATA6):c.637G>A (p.Ala213Thr) rs2510626026
NM_005257.6(GATA6):c.642C>G (p.Asn214Lys) rs1369843629
NM_005257.6(GATA6):c.647C>G (p.Ala216Gly)
NM_005257.6(GATA6):c.655G>C (p.Ala219Pro)
NM_005257.6(GATA6):c.656C>A (p.Ala219Glu) rs2033054015
NM_005257.6(GATA6):c.667C>A (p.Pro223Thr) rs2510626070
NM_005257.6(GATA6):c.668C>T (p.Pro223Leu) rs2510626072
NM_005257.6(GATA6):c.670G>T (p.Gly224Cys)
NM_005257.6(GATA6):c.67_68delinsTT (p.Asp23Phe) rs2510625048
NM_005257.6(GATA6):c.682G>A (p.Ala228Thr) rs2510626115
NM_005257.6(GATA6):c.686C>G (p.Ser229Trp) rs1420896186
NM_005257.6(GATA6):c.686C>T (p.Ser229Leu) rs1420896186
NM_005257.6(GATA6):c.698C>A (p.Pro233His) rs2143277046
NM_005257.6(GATA6):c.706G>A (p.Gly236Ser) rs904551659
NM_005257.6(GATA6):c.706G>C (p.Gly236Arg) rs904551659
NM_005257.6(GATA6):c.706G>T (p.Gly236Cys) rs904551659
NM_005257.6(GATA6):c.721G>C (p.Ala241Pro) rs2143277140
NM_005257.6(GATA6):c.730G>A (p.Gly244Ser) rs1355067748
NM_005257.6(GATA6):c.734_754del (p.Gly245_Gly251del) rs1316111445
NM_005257.6(GATA6):c.734_754dup (p.Gly245_Gly251dup) rs1316111445
NM_005257.6(GATA6):c.740C>G (p.Ala247Gly) rs2033055492
NM_005257.6(GATA6):c.740C>T (p.Ala247Val) rs2033055492
NM_005257.6(GATA6):c.743G>A (p.Gly248Glu) rs1014382084
NM_005257.6(GATA6):c.749G>T (p.Gly250Val) rs2033055801
NM_005257.6(GATA6):c.766G>A (p.Ala256Thr) rs1555628783
NM_005257.6(GATA6):c.76G>A (p.Ala26Thr)
NM_005257.6(GATA6):c.782C>T (p.Ala261Val) rs1157838873
NM_005257.6(GATA6):c.794A>G (p.Tyr265Cys) rs1194239826
NM_005257.6(GATA6):c.797C>G (p.Ser266Cys) rs2143277461
NM_005257.6(GATA6):c.806C>G (p.Pro269Arg) rs1465925778
NM_005257.6(GATA6):c.820G>T (p.Gly274Cys) rs2033057411
NM_005257.6(GATA6):c.826G>A (p.Ala276Thr) rs1555628811
NM_005257.6(GATA6):c.829C>T (p.Arg277Trp) rs2143277600
NM_005257.6(GATA6):c.834G>T (p.Glu278Asp) rs2033057637
NM_005257.6(GATA6):c.842G>C (p.Gly281Ala) rs2143277659
NM_005257.6(GATA6):c.844_876del (p.Tyr282_Gly292del)
NM_005257.6(GATA6):c.847G>A (p.Ala283Thr) rs2510626365
NM_005257.6(GATA6):c.851C>A (p.Ala284Glu) rs185325359
NM_005257.6(GATA6):c.862G>C (p.Gly288Arg) rs1268789855
NM_005257.6(GATA6):c.863G>A (p.Gly288Glu) rs2143277784
NM_005257.6(GATA6):c.866G>A (p.Gly289Asp) rs2033058319
NM_005257.6(GATA6):c.868G>A (p.Ala290Thr) rs2033058388
NM_005257.6(GATA6):c.868G>T (p.Ala290Ser) rs2033058388
NM_005257.6(GATA6):c.86C>A (p.Ala29Glu) rs1185015412
NM_005257.6(GATA6):c.883G>A (p.Gly295Ser) rs1480096974
NM_005257.6(GATA6):c.883GGC[4] (p.Gly297dup) rs1188366255
NM_005257.6(GATA6):c.889G>A (p.Gly297Ser) rs2033058660
NM_005257.6(GATA6):c.889G>C (p.Gly297Arg) rs2033058660
NM_005257.6(GATA6):c.916C>T (p.Arg306Cys) rs1200022383
NM_005257.6(GATA6):c.91G>A (p.Glu31Lys) rs780160108
NM_005257.6(GATA6):c.91G>C (p.Glu31Gln) rs780160108
NM_005257.6(GATA6):c.923C>A (p.Pro308His) rs2033059401
NM_005257.6(GATA6):c.926A>G (p.Gln309Arg) rs2033059489
NM_005257.6(GATA6):c.929A>C (p.Tyr310Ser) rs2033059520
NM_005257.6(GATA6):c.947C>G (p.Ala316Gly)
NM_005257.6(GATA6):c.969CCA[12] (p.His333_Pro334insHisHis)
NM_005257.6(GATA6):c.969CCA[5] (p.His329_His333del) rs562588574
NM_005257.6(GATA6):c.969CCA[6] (p.His330_His333del) rs562588574
NM_005257.6(GATA6):c.969CCA[7] (p.His331_His333del) rs562588574
NM_005257.6(GATA6):c.969CCA[8] (p.His332_His333del) rs562588574
NM_005257.6(GATA6):c.98C>A (p.Ser33Tyr) rs2510625108
NM_005257.6(GATA6):c.991_992insTGG (p.His331delinsLeuAsp) rs2510626795
NM_005257.6(GATA6):c.993C>G (p.His331Gln) rs2143278462
NM_005378.6(MYCN):c.1226C>T (p.Pro409Leu) rs1553371013
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) rs772093152
NM_006079.5(CITED2):c.510_536dup (p.Gly180_Ser181insGlySerSerThrProGlyGlySerGly) rs779637348
NM_006079.5(CITED2):c.697A>G (p.Ile233Val)
NM_006079.5(CITED2):c.754G>T (p.Glu252Ter) rs2482756578
NM_012464.5(TLL1):c.1399C>T (p.Arg467Cys) rs777905713
NM_012464.5(TLL1):c.1414C>T (p.Gln472Ter) rs746995698
NM_012464.5(TLL1):c.1669G>C (p.Val557Leu) rs537688226
NM_012464.5(TLL1):c.2044C>A (p.Leu682Ile) rs763537316
NM_012464.5(TLL1):c.2183T>C (p.Phe728Ser)
NM_012464.5(TLL1):c.2993T>A (p.Ile998Lys) rs1408093373
NM_012464.5(TLL1):c.3015T>A (p.Tyr1005Ter) rs374474520
NM_012464.5(TLL1):c.629G>A (p.Cys210Tyr) rs2477655909
NM_012464.5(TLL1):c.985C>T (p.Arg329Ter) rs761905682
NM_014608.6(CYFIP1):c.1348G>T (p.Ala450Ser) rs1222447732
NM_015045.5(WAPL):c.2020C>T (p.Arg674Cys) rs2492523023
NM_021005.4(NR2F2):c.1000G>C (p.Val334Leu) rs1474147673
NM_021005.4(NR2F2):c.1073C>T (p.Thr358Met)
NM_021005.4(NR2F2):c.1087C>A (p.Leu363Ile) rs1596432381
NM_021005.4(NR2F2):c.1094T>A (p.Leu365His) rs2505780151
NM_021005.4(NR2F2):c.1234G>T (p.Ala412Ser) rs201527820
NM_021005.4(NR2F2):c.204C>G (p.Ser68Arg) rs1381103214
NM_021005.4(NR2F2):c.210GCA[6] (p.Gln75dup) rs780808943
NM_021005.4(NR2F2):c.269A>G (p.His90Arg) rs2141166925
NM_021005.4(NR2F2):c.309C>G (p.Phe103Leu) rs1899174214
NM_021005.4(NR2F2):c.418C>T (p.Leu140Phe) rs2505770201
NM_021005.4(NR2F2):c.538G>A (p.Gly180Arg) rs2141169030
NM_021005.4(NR2F2):c.671T>A (p.Val224Asp) rs1899253390
NM_021005.4(NR2F2):c.682C>T (p.Arg228Trp) rs1899253743
NM_021005.4(NR2F2):c.691C>A (p.Pro231Thr) rs2141169249
NM_021005.4(NR2F2):c.709C>T (p.Gln237Ter) rs878855066
NM_021005.4(NR2F2):c.746G>A (p.Trp249Ter) rs1567138573
NM_021005.4(NR2F2):c.761T>C (p.Val254Ala)
NM_021005.4(NR2F2):c.941G>A (p.Cys314Tyr)
NM_021005.4(NR2F2):c.948G>T (p.Lys316Asn) rs1899261470
NM_030632.3(ASXL3):c.1354G>A (p.Glu452Lys) rs2067593629
NM_031407.7(HUWE1):c.6485G>C (p.Arg2162Pro) rs1556948950
NM_053025.4(MYLK):c.3637G>A (p.Val1213Met) rs368390254
NM_152381.6(XIRP2):c.3085T>A (p.Phe1029Ile) rs1695182274

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.