ClinVar Miner

List of variants studied for atrial septal defect

Included ClinVar conditions (61):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1300
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HGVS dbSNP gnomAD frequency
NM_001077653.2(TBX20):c.39T>C (p.Ser13=) rs336283 0.73657
NM_004387.4(NKX2-5):c.63A>G (p.Glu21=) rs2277923 0.44081
NM_001077653.2(TBX20):c.545+13A>G rs17675148 0.36511
NM_000257.4(MYH7):c.*113G>A rs17794387 0.06427
NM_005159.5(ACTC1):c.927T>C (p.Pro309=) rs2307493 0.02473
NM_002471.4(MYH6):c.3408G>A (p.Lys1136=) rs28730770 0.01687
NM_002471.4(MYH6):c.3979-7del rs397516766 0.01401
NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys) rs28936670 0.01082
NM_002471.4(MYH6):c.2946G>A (p.Glu982=) rs145274612 0.01048
NM_002471.4(MYH6):c.-64G>C rs79618123 0.00747
NM_002471.4(MYH6):c.4206C>T (p.Ala1402=) rs111638554 0.00728
NM_004387.4(NKX2-5):c.861C>T (p.Ala287=) rs77612903 0.00681
NM_004387.4(NKX2-5):c.543G>A (p.Gln181=) rs72554028 0.00578
NM_001077653.2(TBX20):c.1017A>C (p.Thr339=) rs112054378 0.00547
NM_002471.4(MYH6):c.36G>A (p.Ala12=) rs141014719 0.00487
NM_002471.4(MYH6):c.1989C>T (p.Asn663=) rs28730774 0.00451
NM_002471.4(MYH6):c.2168+17C>A rs192337153 0.00443
NM_004387.4(NKX2-5):c.594G>A (p.Gln198=) rs7728764 0.00381
NM_002471.4(MYH6):c.5475G>A (p.Glu1825=) rs79143968 0.00344
NM_001308093.3(GATA4):c.1235C>T (p.Ala412Val) rs55633527 0.00326
NM_002471.4(MYH6):c.1071C>T (p.Ile357=) rs58131640 0.00309
NM_001308093.3(GATA4):c.825C>T (p.Cys275=) rs55980825 0.00275
NM_005159.5(ACTC1):c.454+9G>A rs148695567 0.00245
NM_005257.6(GATA6):c.1374C>T (p.Asn458=) rs143026087 0.00230
NC_000005.10:g.173235491T>C rs118026695 0.00176
NM_002471.4(MYH6):c.2293-12C>G rs115453571 0.00175
NM_002471.4(MYH6):c.2928+5G>A rs28730772 0.00172
NM_002471.4(MYH6):c.2890G>T (p.Ala964Ser) rs144907522 0.00148
NM_004387.4(NKX2-5):c.335-162G>A rs200039950 0.00121
NM_004387.4(NKX2-5):c.237G>C (p.Pro79=) rs72554029 0.00115
NM_004387.4(NKX2-5):c.606G>C (p.Leu202=) rs3729753 0.00096
NM_004387.4(NKX2-5):c.355G>T (p.Ala119Ser) rs137852684 0.00090
NM_017636.4(TRPM4):c.1376G>A (p.Arg459His) rs142312281 0.00086
NM_004387.4(NKX2-5):c.114G>A (p.Glu38=) rs151314714 0.00078
NM_004387.4(NKX2-5):c.61G>C (p.Glu21Gln) rs104893904 0.00073
NM_004387.4(NKX2-5):c.124G>C (p.Ala42Pro) rs113818864 0.00071
NM_002471.4(MYH6):c.3903G>A (p.Ser1301=) rs201804323 0.00052
NM_005159.4(ACTC1):c.*1781C>T rs560065427 0.00041
NM_005159.5(ACTC1):c.219C>T (p.Ile73=) rs376566924 0.00040
NM_002471.4(MYH6):c.5140C>A (p.Arg1714=) rs140651265 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.3230A>T (p.Gln1077Leu) rs377716628 0.00032
NM_002471.4(MYH6):c.292G>A (p.Glu98Lys) rs140596256 0.00030
NM_004387.4(NKX2-5):c.180G>A (p.Glu60=) rs373636712 0.00027
NM_004387.4(NKX2-5):c.632C>T (p.Pro211Leu) rs3729754 0.00026
NM_012464.5(TLL1):c.713T>C (p.Val238Ala) rs137852952 0.00025
NM_002471.4(MYH6):c.2685+10C>T rs202155137 0.00024
NM_004387.4(NKX2-5):c.852C>G (p.Ala284=) rs374150672 0.00023
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_005159.5(ACTC1):c.513C>T (p.Tyr171=) rs145023222 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_002471.4(MYH6):c.4536G>A (p.Ser1512=) rs142539180 0.00018
NM_005257.6(GATA6):c.1663C>G (p.Pro555Ala) rs146243018 0.00018
NM_002471.4(MYH6):c.4812T>C (p.Asp1604=) rs201667127 0.00016
NM_002471.4(MYH6):c.5293G>A (p.Ala1765Thr) rs397516775 0.00016
NM_005159.5(ACTC1):c.141G>T (p.Val47=) rs1409682416 0.00016
NM_001077653.2(TBX20):c.1309C>T (p.Arg437Cys) rs200704561 0.00015
NM_002471.4(MYH6):c.3732+13C>T rs369889994 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_005159.5(ACTC1):c.130-9T>C rs147406641 0.00014
NM_005257.6(GATA6):c.551G>A (p.Ser184Asn) rs387906816 0.00014
NM_002471.4(MYH6):c.2383C>T (p.Arg795Trp) rs202120238 0.00013
NM_002471.4(MYH6):c.4526-9G>C rs201785356 0.00013
NM_004387.4(NKX2-5):c.823C>A (p.Pro275Thr) rs368366482 0.00013
NM_002471.4(MYH6):c.115G>A (p.Val39Met) rs142850511 0.00012
NM_002471.4(MYH6):c.3893C>T (p.Ala1298Val) rs368588052 0.00012
NM_005159.5(ACTC1):c.1092C>T (p.Tyr364=) rs140261885 0.00012
NM_005257.6(GATA6):c.735G>A (p.Gly245=) rs1031755167 0.00012
NM_001077653.2(TBX20):c.457G>A (p.Val153Ile) rs776152314 0.00011
NM_001719.3(BMP7):c.945G>A (p.Met315Ile) rs183792918 0.00011
NM_002471.4(MYH6):c.2097C>T (p.Gly699=) rs149734381 0.00011
NM_002471.4(MYH6):c.2805C>T (p.Asn935=) rs757958461 0.00011
NM_002471.4(MYH6):c.2929-3C>T rs376752266 0.00011
NM_002471.4(MYH6):c.2973C>T (p.Ile991=) rs374807345 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.1662C>T (p.Tyr554=) rs374114140 0.00010
NM_002471.4(MYH6):c.3346C>A (p.Arg1116Ser) rs372446459 0.00010
NM_002471.4(MYH6):c.420C>T (p.Ala140=) rs145023897 0.00010
NM_002471.4(MYH6):c.4264C>T (p.Arg1422Trp) rs200465713 0.00010
NM_005159.5(ACTC1):c.84G>T (p.Ala28=) rs1008290796 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.3118C>T (p.Leu1040=) rs368497504 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_002471.4(MYH6):c.4833C>T (p.Asn1611=) rs139329956 0.00009
NM_004387.4(NKX2-5):c.*296G>C rs540202205 0.00009
NM_004387.4(NKX2-5):c.839C>T (p.Pro280Leu) rs761596254 0.00009
NM_005159.5(ACTC1):c.246C>T (p.Asp82=) rs373261583 0.00009
NM_005159.5(ACTC1):c.455-7C>T rs768363857 0.00009
NM_001308093.3(GATA4):c.623T>C (p.Met208Thr) rs140892695 0.00008
NM_002471.4(MYH6):c.1141+11C>T rs373521230 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_005159.5(ACTC1):c.165C>T (p.Tyr55=) rs149432225 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_005159.5(ACTC1):c.465G>A (p.Leu155=) rs397517062 0.00007
NM_000352.6(ABCC8):c.1793G>A (p.Arg598Gln) rs1344172059 0.00006
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.4651-14C>A rs902807471 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_002471.4(MYH6):c.800-5C>T rs727505228 0.00006
NM_004387.4(NKX2-5):c.492G>C (p.Ser164=) rs754229011 0.00006
NM_004387.4(NKX2-5):c.609G>A (p.Glu203=) rs376792087 0.00006
NM_004387.4(NKX2-5):c.65A>G (p.Gln22Arg) rs201442000 0.00006
NM_005159.5(ACTC1):c.129+18C>A rs368977747 0.00006
NM_005159.5(ACTC1):c.717G>A (p.Glu239=) rs369019849 0.00006
NM_005257.6(GATA6):c.660C>T (p.Gly220=) rs1385756157 0.00006
NM_001077653.2(TBX20):c.426T>C (p.Pro142=) rs373924069 0.00005
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_002471.4(MYH6):c.5587C>T (p.Leu1863=) rs142767538 0.00005
NM_002471.4(MYH6):c.5661+9A>G rs373908250 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.408A>G (p.Arg136=) rs974468549 0.00004
NM_004387.4(NKX2-5):c.462G>A (p.Glu154=) rs909098202 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_004387.4(NKX2-5):c.969C>T (p.Ala323=) rs370499146 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.1053G>C (p.Leu351=) rs151321743 0.00004
NM_005159.5(ACTC1):c.28C>A (p.Leu10Met) rs397517057 0.00004
NM_005159.5(ACTC1):c.309C>T (p.His103=) rs769303249 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_005159.5(ACTC1):c.652C>T (p.Leu218=) rs760269526 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.1276G>A (p.Asp426Asn) rs56208331 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.5367G>A (p.Glu1789=) rs753335327 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.755C>T (p.Ala252Val) rs762090105 0.00003
NM_004387.4(NKX2-5):c.771G>T (p.Pro257=) rs762428190 0.00003
NM_004387.4(NKX2-5):c.809G>A (p.Cys270Tyr) rs587782931 0.00003
NM_004387.4(NKX2-5):c.827C>G (p.Ala276Gly) rs751564052 0.00003
NM_004387.4(NKX2-5):c.939G>A (p.Ser313=) rs748311298 0.00003
NM_005159.5(ACTC1):c.270C>T (p.His90=) rs138812333 0.00003
NM_005159.5(ACTC1):c.300C>T (p.Pro100=) rs141322728 0.00003
NM_005159.5(ACTC1):c.399C>T (p.Ala133=) rs764630691 0.00003
NM_005159.5(ACTC1):c.498C>T (p.Pro166=) rs370082904 0.00003
NM_005159.5(ACTC1):c.51G>A (p.Gly17=) rs993704001 0.00003
NM_005159.5(ACTC1):c.616+6T>C rs574862389 0.00003
NM_005159.5(ACTC1):c.941G>A (p.Arg314His) rs121912673 0.00003
NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met) rs141322087 0.00002
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.3477G>A (p.Thr1159=) rs573242724 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.381G>A (p.Ala127=) rs957139658 0.00002
NM_004387.4(NKX2-5):c.510G>C (p.Gln170His) rs1489743522 0.00002
NM_004387.4(NKX2-5):c.534G>A (p.Thr178=) rs1315138203 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.898T>C (p.Leu300=) rs761208569 0.00002
NM_004387.4(NKX2-5):c.915C>T (p.Ser305=) rs760182745 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.180C>T (p.Ala60=) rs370322510 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_005159.5(ACTC1):c.294G>A (p.Val98=) rs397517058 0.00002
NM_005159.5(ACTC1):c.333G>A (p.Pro111=) rs774767260 0.00002
NM_005159.5(ACTC1):c.405C>T (p.Tyr135=) rs181479041 0.00002
NM_005159.5(ACTC1):c.455-18G>A rs925035661 0.00002
NM_005159.5(ACTC1):c.456C>T (p.Gly152=) rs771310484 0.00002
NM_005159.5(ACTC1):c.617-10A>G rs751985418 0.00002
NM_005159.5(ACTC1):c.809-11C>A rs1175630739 0.00002
NM_005159.5(ACTC1):c.809-8G>A rs767180775 0.00002
NM_005159.5(ACTC1):c.903A>G (p.Leu301=) rs138347995 0.00002
NM_005159.5(ACTC1):c.991-13T>C rs1375741970 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_001271874.2(AAR2):c.520G>A (p.Val174Met) rs746800707 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.2664C>T (p.Asp888=) rs755699724 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.3189G>C (p.Leu1063=) rs745729273 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.3393G>A (p.Arg1131=) rs529107714 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.4504C>A (p.Arg1502=) rs773631723 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.4960-9G>A rs557113705 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_004301.5(ACTL6A):c.1129C>T (p.Arg377Trp) rs868064163 0.00001
NM_004387.4(NKX2-5):c.111G>A (p.Leu37=) rs746594822 0.00001
NM_004387.4(NKX2-5):c.117G>A (p.Ala39=) rs1282271902 0.00001
NM_004387.4(NKX2-5):c.147C>G (p.Ala49=) rs1057523798 0.00001
NM_004387.4(NKX2-5):c.168C>T (p.Tyr56=) rs756377692 0.00001
NM_004387.4(NKX2-5):c.169G>T (p.Ala57Ser) rs549161381 0.00001
NM_004387.4(NKX2-5):c.173G>T (p.Gly58Val) rs1012750146 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.282A>G (p.Pro94=) rs1468594356 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.300C>A (p.Pro100=) rs767243751 0.00001
NM_004387.4(NKX2-5):c.309C>T (p.Ala103=) rs759221178 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.387C>T (p.Asn129=) rs750029908 0.00001
NM_004387.4(NKX2-5):c.395G>C (p.Arg132Pro) rs754394393 0.00001
NM_004387.4(NKX2-5):c.420G>A (p.Lys140=) rs1761361713 0.00001
NM_004387.4(NKX2-5):c.444G>A (p.Ala148=) rs776529245 0.00001
NM_004387.4(NKX2-5):c.448G>A (p.Val150Ile) rs201582515 0.00001
NM_004387.4(NKX2-5):c.450C>T (p.Val150=) rs376636481 0.00001
NM_004387.4(NKX2-5):c.466C>T (p.Arg156Cys) rs1310163851 0.00001
NM_004387.4(NKX2-5):c.48C>T (p.Asp16=) rs1380213330 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.558C>T (p.Phe186=) rs994615466 0.00001
NM_004387.4(NKX2-5):c.561G>A (p.Gln187=) rs767559311 0.00001
NM_004387.4(NKX2-5):c.639G>C (p.Pro213=) rs1190579821 0.00001
NM_004387.4(NKX2-5):c.645C>T (p.Ala215=) rs755052461 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.705G>C (p.Ala235=) rs202071628 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.828C>T (p.Ala276=) rs762836048 0.00001
NM_004387.4(NKX2-5):c.842C>A (p.Ala281Glu) rs1206339157 0.00001
NM_004387.4(NKX2-5):c.849G>A (p.Pro283=) rs769114793 0.00001
NM_004387.4(NKX2-5):c.84T>A (p.Ala28=) rs1403843686 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.957T>C (p.His319=) rs1244640427 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.1035C>T (p.Gly345=) rs1430980455 0.00001
NM_005159.5(ACTC1):c.1044G>A (p.Leu348=) rs1461497941 0.00001
NM_005159.5(ACTC1):c.1085A>C (p.Gln362Pro) rs375435815 0.00001
NM_005159.5(ACTC1):c.108C>T (p.Ile36=) rs1457769757 0.00001
NM_005159.5(ACTC1):c.1098G>A (p.Glu366=) rs758173419 0.00001
NM_005159.5(ACTC1):c.1099G>A (p.Ala367Thr) rs370256882 0.00001
NM_005159.5(ACTC1):c.1131C>T (p.Phe377=) rs764683976 0.00001
NM_005159.5(ACTC1):c.117C>T (p.Arg39=) rs751851323 0.00001
NM_005159.5(ACTC1):c.120G>A (p.Pro40=) rs766934253 0.00001
NM_005159.5(ACTC1):c.129+19_129+20insT rs386134228 0.00001
NM_005159.5(ACTC1):c.129G>A (p.Gln43=) rs878854753 0.00001
NM_005159.5(ACTC1):c.12C>T (p.Asp4=) rs768526036 0.00001
NM_005159.5(ACTC1):c.130-4A>T rs772110994 0.00001
NM_005159.5(ACTC1):c.240C>T (p.Asn80=) rs1178754602 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.301G>A (p.Glu101Lys) rs193922680 0.00001
NM_005159.5(ACTC1):c.311C>T (p.Pro104Leu) rs1405829098 0.00001
NM_005159.5(ACTC1):c.318G>A (p.Leu106=) rs1335305223 0.00001
NM_005159.5(ACTC1):c.352C>A (p.Arg118=) rs1159252460 0.00001
NM_005159.5(ACTC1):c.369G>A (p.Gln123=) rs768169477 0.00001
NM_005159.5(ACTC1):c.423G>A (p.Val141=) rs922191208 0.00001
NM_005159.5(ACTC1):c.432G>T (p.Leu144=) rs1595761302 0.00001
NM_005159.5(ACTC1):c.441T>C (p.Ser147=) rs1199593688 0.00001
NM_005159.5(ACTC1):c.447T>C (p.Arg149=) rs1315206069 0.00001
NM_005159.5(ACTC1):c.454+5G>C rs756249146 0.00001
NM_005159.5(ACTC1):c.455-14A>G rs902599585 0.00001
NM_005159.5(ACTC1):c.455-4G>A rs746508669 0.00001
NM_005159.5(ACTC1):c.455-6G>A rs1359050330 0.00001
NM_005159.5(ACTC1):c.455-9C>T rs1891726942 0.00001
NM_005159.5(ACTC1):c.5G>A (p.Cys2Tyr) rs1469206760 0.00001
NM_005159.5(ACTC1):c.609C>T (p.Val203=) rs1055408313 0.00001
NM_005159.5(ACTC1):c.617-7T>C rs750536667 0.00001
NM_005159.5(ACTC1):c.622C>T (p.Arg208Cys) rs727505179 0.00001
NM_005159.5(ACTC1):c.633C>T (p.Val211=) rs199947846 0.00001
NM_005159.5(ACTC1):c.663C>T (p.Val221=) rs766868624 0.00001
NM_005159.5(ACTC1):c.747C>T (p.Val249=) rs1470571495 0.00001
NM_005159.5(ACTC1):c.756T>C (p.Ile252=) rs371940910 0.00001
NM_005159.5(ACTC1):c.792C>T (p.Phe264=) rs769158928 0.00001
NM_005159.5(ACTC1):c.809-9C>T rs752499457 0.00001
NM_005159.5(ACTC1):c.81C>T (p.Asp27=) rs753552901 0.00001
NM_005159.5(ACTC1):c.886T>C (p.Tyr296His) rs730880402 0.00001
NM_005159.5(ACTC1):c.93T>C (p.Ala31=) rs1341945129 0.00001
NM_005159.5(ACTC1):c.942T>C (p.Arg314=) rs778914066 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;X;t(Y;16)(q11.23;p11.2);t(6;21)(p21.3;p13)dn
46;XX;inv(14)(q24.1q32.1)dn
46;XX;inv(7)(q21.2q34)
46;XY;inv(6)(p22q13)dn
46;XY;t(16;20)(q11.2;q13.2)dn
46;XY;t(18;20)(q21.1;p11.23)dn
46;XY;t(2;14)(p22;q24.3)dn
46;XY;t(3;5)(q23;q13)dn
46;XY;t(9;11)(q34;p11.2)dn
CITED2, 27-BP INS, NT534
GRCh37/hg19 10q25.3-26.12(chr10:118891670-122349064)x1
GRCh37/hg19 15q12(chr15:27462869-27544157)
GRCh37/hg19 5q34-35.2(chr5:166421173-173324843)x1
GRCh37/hg19 7q34(chr7:139478979-139550968)
NC_000005.10:g.(?_173232273)_(173245300_?)del
NC_000005.10:g.(?_173232549)_(173245300_?)del
NC_000005.9:g.(?_172089144)_(172774583_?)del
NC_000005.9:g.(?_172657631)_(172661899_?)del
NC_000005.9:g.(?_172659552)_(172672303_?)dup
NC_000005.9:g.(?_172659748)_(172666091_?)del
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_000969.5(RPL5):c.74-1G>C rs1553284997
NM_001018005.2(TPM1):c.686C>T (p.Ser229Phe) rs1114167356
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.363C>G (p.Ile121Met) rs267607106
NM_001077653.2(TBX20):c.374C>A (p.Ser125Ter) rs766692577
NM_001077653.2(TBX20):c.546-1224dup rs483353006
NM_001077653.2(TBX20):c.583C>T (p.Gln195Ter) rs137852955
NM_001077653.2(TBX20):c.655-18C>T rs483353009
NM_001077653.2(TBX20):c.655-44G>A rs2072434
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_001110556.2(FLNA):c.7671del (p.Ser2558fs) rs2148100379
NM_001200.4(BMP2):c.1052C>G (p.Ser351Cys)
NM_001256071.3(RNF213):c.11659A>G (p.Lys3887Glu) rs1555673862
NM_001292034.3(TAB2):c.1039C>T (p.Arg347Ter) rs1057518422
NM_001308093.3(GATA4):c.1078del (p.Glu360fs) rs1585703301
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.155C>T (p.Ser52Phe) rs104894074
NM_001308093.3(GATA4):c.691C>T (p.Arg231Ter) rs2130307055
NM_001308093.3(GATA4):c.786+16G>T rs200555437
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.851G>A (p.Arg284His) rs180765750
NM_001308093.3(GATA4):c.854_856del (p.Arg285_Asn286delinsHis)
NM_001308093.3(GATA4):c.889G>A (p.Gly297Ser) rs104894073
NM_001308093.3(GATA4):c.889G>T (p.Gly297Cys) rs104894073
NM_001308093.3(GATA4):c.931A>G (p.Met311Val) rs387906772
NM_001308093.3(GATA4):c.949C>G (p.Gln317Glu) rs56298569
NM_001308093.3(GATA4):c.961C>T (p.Arg321Trp) rs1282433424
NM_001349338.3(FOXP1):c.1778C>A (p.Pro593His) rs2034683194
NM_001458.5(FLNC):c.7562-15_7637delinsGAGG rs1563005360
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.2459T>A (p.Ile820Asn) rs267606903
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.3979-11_3979-9delinsG rs368229372
NM_002471.4(MYH6):c.3979-3dup rs770492637
NM_002471.4(MYH6):c.3979-7_3979-4del rs745326238
NM_002471.4(MYH6):c.3979-8C>T rs555976716
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.4360-7C>T rs58949384
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_002804.5(PSMC3):c.910C>T (p.Arg304Trp)
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp) rs121918460
NM_003072.5(SMARCA4):c.2900G>A (p.Arg967His) rs1085307769
NM_003238.6(TGFB2):c.1012C>A (p.Pro338Thr) rs2102630084
NM_004006.3(DMD):c.93+1G>C rs886042604
NM_004115.4(FGF14):c.486dup (p.Arg163fs) rs1566823361
NM_004380.3(CREBBP):c.383C>A (p.Ser128Tyr) rs55790011
NM_004380.3(CREBBP):c.5603G>A (p.Arg1868Gln) rs1567263168
NM_004387.3(NKX2-5):c.-229_*465del
NM_004387.3(NKX2-5):c.-229_334del rs1581111034
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.132C>G (p.Ser44=)
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.147_163delinsGCCTCCT (p.Ala50fs) rs1561621507
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.159A>T (p.Pro53=) rs1581111412
NM_004387.4(NKX2-5):c.15T>C (p.Pro5=) rs747865362
NM_004387.4(NKX2-5):c.160_161insCTGGCCCG (p.Glu54fs) rs1761438700
NM_004387.4(NKX2-5):c.167A>G (p.Tyr56Cys) rs1360861650
NM_004387.4(NKX2-5):c.167_186dup (p.Ala63fs) rs2113906336
NM_004387.4(NKX2-5):c.168C>G (p.Tyr56Ter)
NM_004387.4(NKX2-5):c.169G>C (p.Ala57Pro)
NM_004387.4(NKX2-5):c.177C>A (p.Pro59=)
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.189G>A (p.Ala63=) rs760954359
NM_004387.4(NKX2-5):c.192G>A (p.Pro64=) rs1242630173
NM_004387.4(NKX2-5):c.192G>C (p.Pro64=)
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.207G>A (p.Leu69=)
NM_004387.4(NKX2-5):c.211G>C (p.Ala71Pro)
NM_004387.4(NKX2-5):c.212del (p.Ala71fs) rs2113906234
NM_004387.4(NKX2-5):c.215_221del (p.Glu72fs) rs606231358
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.228_229del (p.Pro77fs) rs606231359
NM_004387.4(NKX2-5):c.229C>T (p.Pro77Ser) rs771593440
NM_004387.4(NKX2-5):c.230del (p.Pro77fs) rs2113906167
NM_004387.4(NKX2-5):c.234A>T (p.Ser78=) rs2113906146
NM_004387.4(NKX2-5):c.236C>A (p.Pro79Gln)
NM_004387.4(NKX2-5):c.237G>A (p.Pro79=) rs72554029
NM_004387.4(NKX2-5):c.237G>T (p.Pro79=) rs72554029
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.246T>C (p.Cys82=)
NM_004387.4(NKX2-5):c.246dup (p.Ala83fs) rs1761434175
NM_004387.4(NKX2-5):c.248C>G (p.Ala83Gly) rs1182777346
NM_004387.4(NKX2-5):c.249G>T (p.Ala83=) rs1442654880
NM_004387.4(NKX2-5):c.252T>C (p.Ser84=)
NM_004387.4(NKX2-5):c.253_256dup (p.Phe86fs) rs2113906022
NM_004387.4(NKX2-5):c.259C>T (p.Pro87Ser)
NM_004387.4(NKX2-5):c.261C>T (p.Pro87=)
NM_004387.4(NKX2-5):c.261del (p.Ala88fs) rs2113906009
NM_004387.4(NKX2-5):c.262del (p.Ala88fs) rs606231360
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.270del (p.Ala91fs) rs2113905948
NM_004387.4(NKX2-5):c.270dup (p.Ala91fs) rs2113905948
NM_004387.4(NKX2-5):c.274T>G (p.Phe92Val)
NM_004387.4(NKX2-5):c.279T>A (p.Tyr93Ter)
NM_004387.4(NKX2-5):c.280C>T (p.Pro94Ser) rs1009994744
NM_004387.4(NKX2-5):c.281del (p.Pro94fs) rs2113905914
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.291C>A (p.Tyr97Ter)
NM_004387.4(NKX2-5):c.298C>A (p.Pro100Thr) rs550046293
NM_004387.4(NKX2-5):c.298C>G (p.Pro100Ala) rs550046293
NM_004387.4(NKX2-5):c.299C>T (p.Pro100Leu)
NM_004387.4(NKX2-5):c.300C>G (p.Pro100=)
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.310A>T (p.Lys104Ter) rs1761430125
NM_004387.4(NKX2-5):c.314_321del (p.Asp105fs)
NM_004387.4(NKX2-5):c.315C>T (p.Asp105=)
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.328A>T (p.Lys110Ter)
NM_004387.4(NKX2-5):c.334+9G>A rs534308328
NM_004387.4(NKX2-5):c.334+9G>T rs534308328
NM_004387.4(NKX2-5):c.335-16C>T
NM_004387.4(NKX2-5):c.335-18C>T
NM_004387.4(NKX2-5):c.335-3C>T
NM_004387.4(NKX2-5):c.335-5C>T rs2113902342
NM_004387.4(NKX2-5):c.335-5dup rs1316920712
NM_004387.4(NKX2-5):c.335-6C>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.340_341del (p.Cys114fs) rs2113902320
NM_004387.4(NKX2-5):c.340_341dup (p.Leu116fs) rs2113902320
NM_004387.4(NKX2-5):c.342C>A (p.Cys114Ter)
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.357G>C (p.Ala119=) rs769566306
NM_004387.4(NKX2-5):c.357G>T (p.Ala119=) rs769566306
NM_004387.4(NKX2-5):c.367G>A (p.Glu123Lys)
NM_004387.4(NKX2-5):c.369G>A (p.Glu123=)
NM_004387.4(NKX2-5):c.375dup (p.Glu126fs) rs1561619801
NM_004387.4(NKX2-5):c.377A>C (p.Glu126Ala) rs1320947604
NM_004387.4(NKX2-5):c.377_378del (p.Glu126fs) rs2113902216
NM_004387.4(NKX2-5):c.380C>A (p.Ala127Glu) rs387906774
NM_004387.4(NKX2-5):c.380C>G (p.Ala127Gly)
NM_004387.4(NKX2-5):c.381G>T (p.Ala127=)
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.406C>A (p.Arg136=)
NM_004387.4(NKX2-5):c.409C>A (p.Arg137=) rs1260214548
NM_004387.4(NKX2-5):c.410G>A (p.Arg137Gln)
NM_004387.4(NKX2-5):c.416G>A (p.Arg139Lys)
NM_004387.4(NKX2-5):c.417del (p.Lys140fs)
NM_004387.4(NKX2-5):c.421C>G (p.Pro141Ala) rs774627537
NM_004387.4(NKX2-5):c.423G>A (p.Pro141=)
NM_004387.4(NKX2-5):c.423dup (p.Arg142fs) rs2113902012
NM_004387.4(NKX2-5):c.425G>A (p.Arg142His) rs2113902000
NM_004387.4(NKX2-5):c.429G>A (p.Val143=)
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.432C>T (p.Leu144=) rs1182838417
NM_004387.4(NKX2-5):c.433T>C (p.Phe145Leu) rs2113901956
NM_004387.4(NKX2-5):c.434dup (p.Ser146fs) rs2113901953
NM_004387.4(NKX2-5):c.437C>A (p.Ser146Ter) rs397516909
NM_004387.4(NKX2-5):c.447G>C (p.Gln149His) rs1230869762
NM_004387.4(NKX2-5):c.44A>T (p.Lys15Ile) rs387906773
NM_004387.4(NKX2-5):c.457C>G (p.Leu153Val)
NM_004387.4(NKX2-5):c.458T>C (p.Leu153Pro) rs2113901873
NM_004387.4(NKX2-5):c.461A>G (p.Glu154Gly) rs587782928
NM_004387.4(NKX2-5):c.462del (p.Glu154fs) rs2113901862
NM_004387.4(NKX2-5):c.464G>C (p.Arg155Pro) rs1018993104
NM_004387.4(NKX2-5):c.465G>A (p.Arg155=)
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.486C>A (p.Tyr162Ter) rs1456289029
NM_004387.4(NKX2-5):c.487del (p.Leu163fs)
NM_004387.4(NKX2-5):c.489G>T (p.Leu163=) rs2113901761
NM_004387.4(NKX2-5):c.491C>A (p.Ser164Ter) rs1554093487
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.508C>T (p.Gln170Ter) rs104893901
NM_004387.4(NKX2-5):c.512T>A (p.Leu171Gln)
NM_004387.4(NKX2-5):c.512T>C (p.Leu171Pro) rs797045791
NM_004387.4(NKX2-5):c.513G>A (p.Leu171=)
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.533C>T (p.Thr178Met) rs104893900
NM_004387.4(NKX2-5):c.542dup (p.Val182fs)
NM_004387.4(NKX2-5):c.543G>C (p.Gln181His) rs72554028
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.554G>A (p.Trp185Ter)
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>A (p.Arg189=)
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.567G>A (p.Arg189=)
NM_004387.4(NKX2-5):c.568C>T (p.Arg190Cys) rs104893906
NM_004387.4(NKX2-5):c.572A>G (p.Tyr191Cys)
NM_004387.4(NKX2-5):c.578G>A (p.Cys193Tyr)
NM_004387.4(NKX2-5):c.582G>A (p.Lys194=)
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.585del (p.Gln196fs) rs2113901553
NM_004387.4(NKX2-5):c.590G>C (p.Arg197Pro) rs774482632
NM_004387.4(NKX2-5):c.591G>A (p.Arg197=) rs1761354689
NM_004387.4(NKX2-5):c.592C>T (p.Gln198Ter) rs104893903
NM_004387.4(NKX2-5):c.597C>A (p.Asp199Glu)
NM_004387.4(NKX2-5):c.598_599del (p.Gln200fs) rs2113901504
NM_004387.4(NKX2-5):c.59T>C (p.Leu20Pro) rs1471444031
NM_004387.4(NKX2-5):c.603T>G (p.Thr201=) rs980492525
NM_004387.4(NKX2-5):c.605_606del (p.Leu202fs) rs1554093461
NM_004387.4(NKX2-5):c.606G>A (p.Leu202=)
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.60G>C (p.Leu20=) rs554604572
NM_004387.4(NKX2-5):c.612G>A (p.Leu204=) rs946354549
NM_004387.4(NKX2-5):c.613G>A (p.Val205Met)
NM_004387.4(NKX2-5):c.615G>A (p.Val205=)
NM_004387.4(NKX2-5):c.618del (p.Leu207fs) rs587782929
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.625_646del (p.Pro209fs)
NM_004387.4(NKX2-5):c.627G>A (p.Pro209=)
NM_004387.4(NKX2-5):c.627GCC[3] (p.Pro213_Pro214del) rs746833511
NM_004387.4(NKX2-5):c.627GCC[4] (p.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.629_648del (p.Pro210fs)
NM_004387.4(NKX2-5):c.635C>G (p.Pro212Arg) rs372282873
NM_004387.4(NKX2-5):c.635C>T (p.Pro212Leu) 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.646del (p.Arg216fs)
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.651G>A (p.Arg217=)
NM_004387.4(NKX2-5):c.657G>C (p.Ala219=) rs990341478
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.668del (p.Leu223fs) rs1581108237
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.690C>T (p.Cys230=)
NM_004387.4(NKX2-5):c.693_700del (p.Asp233fs)
NM_004387.4(NKX2-5):c.694_710dup (p.Tyr237Ter)
NM_004387.4(NKX2-5):c.699C>T (p.Asp233=)
NM_004387.4(NKX2-5):c.701C>A (p.Ser234Ter) rs773922431
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.711C>A (p.Tyr237Ter) rs1554093433
NM_004387.4(NKX2-5):c.713C>T (p.Ala238Val)
NM_004387.4(NKX2-5):c.721_728del (p.Tyr241fs) rs587782930
NM_004387.4(NKX2-5):c.723C>T (p.Tyr241=) rs1204175293
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.744C>A (p.Tyr248Ter) rs758539727
NM_004387.4(NKX2-5):c.746del (p.Gly249fs)
NM_004387.4(NKX2-5):c.747_748dup (p.Tyr250fs)
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.752del (p.Asn251fs) rs879253754
NM_004387.4(NKX2-5):c.763G>A (p.Ala255Thr) rs759518211
NM_004387.4(NKX2-5):c.768T>A (p.Tyr256Ter) rs104893907
NM_004387.4(NKX2-5):c.768T>G (p.Tyr256Ter) rs104893907
NM_004387.4(NKX2-5):c.776A>T (p.Tyr259Phe)
NM_004387.4(NKX2-5):c.778_784dup (p.Ala262fs) rs2113901025
NM_004387.4(NKX2-5):c.783del (p.Ala262fs) rs587784067
NM_004387.4(NKX2-5):c.78C>T (p.Ser26=) rs2113906717
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.804C>G (p.Tyr268Ter) rs1761346424
NM_004387.4(NKX2-5):c.813T>A (p.Thr271=)
NM_004387.4(NKX2-5):c.816C>T (p.Ala272=)
NM_004387.4(NKX2-5):c.817G>C (p.Ala273Pro)
NM_004387.4(NKX2-5):c.819T>A (p.Ala273=) rs2113900942
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.828C>G (p.Ala276=) rs762836048
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.837C>T (p.Ser279=) rs1761345000
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.858C>G (p.Ala286=)
NM_004387.4(NKX2-5):c.858C>T (p.Ala286=)
NM_004387.4(NKX2-5):c.861C>A (p.Ala287=)
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.882C>T (p.Asn294=) rs1554093405
NM_004387.4(NKX2-5):c.885C>A (p.Phe295Leu) rs150581386
NM_004387.4(NKX2-5):c.885C>T (p.Phe295=) 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.888C>A (p.Gly296=)
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.891C>T (p.Val297=)
NM_004387.4(NKX2-5):c.894G>A (p.Gly298=) rs2113900696
NM_004387.4(NKX2-5):c.896A>G (p.Asp299Gly) rs137852683
NM_004387.4(NKX2-5):c.897C>T (p.Asp299=) rs1060504828
NM_004387.4(NKX2-5):c.906G>C (p.Ala302=) rs529731562
NM_004387.4(NKX2-5):c.918C>T (p.Pro306=)
NM_004387.4(NKX2-5):c.921G>A (p.Gly307=)
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.966A>G (p.Arg322=)
NM_004387.4(NKX2-5):c.968C>G (p.Ala323Gly) rs1188394387
NM_004387.4(NKX2-5):c.96G>A (p.Glu32=) rs776310516
NM_004387.4(NKX2-5):c.99C>G (p.Leu33=) rs2113906643
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.1005T>C (p.Pro335=) rs1179163467
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.1038C>T (p.Ser346=) rs748062476
NM_005159.5(ACTC1):c.103T>G (p.Ser35Ala) rs1595761987
NM_005159.5(ACTC1):c.1050T>A (p.Ser350=) rs895745627
NM_005159.5(ACTC1):c.1053G>A (p.Leu351=) rs151321743
NM_005159.5(ACTC1):c.1056C>T (p.Ser352=) rs1595759957
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.1095T>C (p.Asp365=)
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.1107A>G (p.Pro369=)
NM_005159.5(ACTC1):c.1109C>G (p.Ser370Cys)
NM_005159.5(ACTC1):c.1112T>C (p.Ile371Thr) rs730880407
NM_005159.5(ACTC1):c.1119C>T (p.His373=) rs1208061059
NM_005159.5(ACTC1):c.1128C>T (p.Cys376=) rs1891679853
NM_005159.5(ACTC1):c.1129T>G (p.Phe377Val) rs2140428902
NM_005159.5(ACTC1):c.1133A>T (p.Ter378Leu)
NM_005159.5(ACTC1):c.120G>C (p.Pro40=) rs766934253
NM_005159.5(ACTC1):c.123G>A (p.Arg41=)
NM_005159.5(ACTC1):c.124C>T (p.His42Tyr) rs2140433161
NM_005159.5(ACTC1):c.129+10C>T
NM_005159.5(ACTC1):c.129+11C>T
NM_005159.5(ACTC1):c.129+14C>G
NM_005159.5(ACTC1):c.129+15G>A
NM_005159.5(ACTC1):c.129+17G>T
NM_005159.5(ACTC1):c.129+3A>G rs763452221
NM_005159.5(ACTC1):c.129+6C>G rs564151494
NM_005159.5(ACTC1):c.129+8T>A
NM_005159.5(ACTC1):c.12C>A (p.Asp4Glu) rs768526036
NM_005159.5(ACTC1):c.130-11dup rs2140432284
NM_005159.5(ACTC1):c.130-15T>G rs376417852
NM_005159.5(ACTC1):c.130-18C>A
NM_005159.5(ACTC1):c.132A>C (p.Gly44=)
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.150T>C (p.Gly50=)
NM_005159.5(ACTC1):c.151C>T (p.Gln51Ter)
NM_005159.5(ACTC1):c.155A>C (p.Lys52Thr) rs2140432240
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.177A>G (p.Glu59=) rs755858258
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.195C>T (p.Gly65=)
NM_005159.5(ACTC1):c.1A>G (p.Met1Val)
NM_005159.5(ACTC1):c.201G>C (p.Leu67=)
NM_005159.5(ACTC1):c.204C>T (p.Thr68=) rs1891751214
NM_005159.5(ACTC1):c.207G>C (p.Leu69=)
NM_005159.5(ACTC1):c.213T>C (p.Tyr71=)
NM_005159.5(ACTC1):c.215_231del (p.Pro72fs) rs387906585
NM_005159.5(ACTC1):c.220G>C (p.Glu74Gln)
NM_005159.5(ACTC1):c.22A>G (p.Thr8Ala) rs730880390
NM_005159.5(ACTC1):c.234C>T (p.Ile78=) rs1393400015
NM_005159.5(ACTC1):c.244G>A (p.Asp82Asn)
NM_005159.5(ACTC1):c.24C>T (p.Thr8=)
NM_005159.5(ACTC1):c.267C>T (p.His89=)
NM_005159.5(ACTC1):c.27C>T (p.Ala9=) rs1595762043
NM_005159.5(ACTC1):c.281A>G (p.Asn94Ser) rs767734253
NM_005159.5(ACTC1):c.285G>A (p.Glu95=) rs1211913373
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.294G>T (p.Val98=) rs397517058
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.300C>G (p.Pro100=)
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.30G>A (p.Leu10=)
NM_005159.5(ACTC1):c.30G>C (p.Leu10=)
NM_005159.5(ACTC1):c.310C>T (p.Pro104Ser) rs397517059
NM_005159.5(ACTC1):c.312C>G (p.Pro104=)
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.324A>T (p.Thr108=)
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.342C>T (p.Pro114=) rs878854754
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.373A>G (p.Met125Val) rs121912677
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.384C>T (p.Thr128=)
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.408G>C (p.Val136=)
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.42C>T (p.Asn14=) rs1257278537
NM_005159.5(ACTC1):c.438T>C (p.Ala146=)
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.454+13C>A
NM_005159.5(ACTC1):c.454+18G>A
NM_005159.5(ACTC1):c.454G>A (p.Gly152Ser) rs1247069535
NM_005159.5(ACTC1):c.455-10C>T
NM_005159.5(ACTC1):c.455-12T>C
NM_005159.5(ACTC1):c.455-18G>C rs925035661
NM_005159.5(ACTC1):c.455-4del rs1178667520
NM_005159.5(ACTC1):c.455G>T (p.Gly152Val)
NM_005159.5(ACTC1):c.458T>C (p.Ile153Thr) rs1555418843
NM_005159.5(ACTC1):c.459T>C (p.Ile153=) rs2140431034
NM_005159.5(ACTC1):c.45C>T (p.Gly15=)
NM_005159.5(ACTC1):c.471T>C (p.Ser157=) rs2140431029
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.489C>T (p.His163=)
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.501C>T (p.Ile167=) rs1306504752
NM_005159.5(ACTC1):c.504T>C (p.Tyr168=) rs2140430970
NM_005159.5(ACTC1):c.507G>A (p.Glu169=) rs1555418837
NM_005159.5(ACTC1):c.516T>C (p.Ala172=) rs397517064
NM_005159.5(ACTC1):c.520C>A (p.Pro174Thr)
NM_005159.5(ACTC1):c.522C>T (p.Pro174=)
NM_005159.5(ACTC1):c.523dup (p.His175fs) rs730880389
NM_005159.5(ACTC1):c.524A>C (p.His175Pro) rs1566967487
NM_005159.5(ACTC1):c.525T>C (p.His175=) rs2140430937
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.537T>A (p.Arg179=) rs750131288
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.555G>A (p.Arg185=)
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.570C>T (p.Tyr190=) rs1595760934
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>A (p.Lys193=)
NM_005159.5(ACTC1):c.579G>T (p.Lys193Asn) rs730880395
NM_005159.5(ACTC1):c.581T>A (p.Ile194Asn)
NM_005159.5(ACTC1):c.583C>T (p.Leu195Phe) rs1891723828
NM_005159.5(ACTC1):c.597C>A (p.Gly199=) rs1595760921
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+10T>C
NM_005159.5(ACTC1):c.616+3G>A
NM_005159.5(ACTC1):c.616+4_616+7del rs1891723274
NM_005159.5(ACTC1):c.616+5GT[4] rs749539033
NM_005159.5(ACTC1):c.616+5GT[6]
NM_005159.5(ACTC1):c.616+7G>A
NM_005159.5(ACTC1):c.616+7G>T
NM_005159.5(ACTC1):c.617-11T>C rs1891721032
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.636T>C (p.Arg212=) rs1595760838
NM_005159.5(ACTC1):c.639C>A (p.Asp213Glu)
NM_005159.5(ACTC1):c.648G>A (p.Glu216=)
NM_005159.5(ACTC1):c.652C>A (p.Leu218Met) rs760269526
NM_005159.5(ACTC1):c.659A>T (p.Tyr220Phe)
NM_005159.5(ACTC1):c.663_679dup (p.Asn227fs) rs2140430645
NM_005159.5(ACTC1):c.664G>A (p.Ala222Thr) rs1555418793
NM_005159.5(ACTC1):c.66C>T (p.Gly22=) rs1060504729
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.699C>T (p.Ala233=) rs1595760786
NM_005159.5(ACTC1):c.705C>T (p.Ser235=) rs2140430606
NM_005159.5(ACTC1):c.707C>T (p.Ser236Phe) rs1595760777
NM_005159.5(ACTC1):c.712C>T (p.Leu238=) rs1891718902
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.72G>A (p.Ala24=)
NM_005159.5(ACTC1):c.72G>C (p.Ala24=) rs778572289
NM_005159.5(ACTC1):c.730C>A (p.Leu244Met) rs2140430556
NM_005159.5(ACTC1):c.733C>T (p.Pro245Ser)
NM_005159.5(ACTC1):c.740G>A (p.Gly247Asp) rs1566967399
NM_005159.5(ACTC1):c.741C>A (p.Gly247=) rs1595760747
NM_005159.5(ACTC1):c.744A>G (p.Gln248=)
NM_005159.5(ACTC1):c.753T>G (p.Thr251=) rs1595760737
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.75C>A (p.Gly25=)
NM_005159.5(ACTC1):c.75C>T (p.Gly25=) rs144819872
NM_005159.5(ACTC1):c.768C>T (p.Arg256=)
NM_005159.5(ACTC1):c.76G>A (p.Asp26Asn) rs727504399
NM_005159.5(ACTC1):c.778C>G (p.Pro260Ala)
NM_005159.5(ACTC1):c.784A>T (p.Thr262Ser) rs1060502821
NM_005159.5(ACTC1):c.789C>T (p.Leu263=)
NM_005159.5(ACTC1):c.793C>G (p.Gln265Glu) rs727504323
NM_005159.5(ACTC1):c.798C>G (p.Pro266=) rs397517068
NM_005159.5(ACTC1):c.798C>T (p.Pro266=) rs397517068
NM_005159.5(ACTC1):c.806T>C (p.Ile269Thr) rs397517071
NM_005159.5(ACTC1):c.808+18G>A
NM_005159.5(ACTC1):c.808+1G>C rs730880400
NM_005159.5(ACTC1):c.808+20G>A
NM_005159.5(ACTC1):c.808+3G>A rs397517070
NM_005159.5(ACTC1):c.808+8G>T
NM_005159.5(ACTC1):c.808+9T>C
NM_005159.5(ACTC1):c.809-12A>G rs587780846
NM_005159.5(ACTC1):c.809-12A>T rs587780846
NM_005159.5(ACTC1):c.809-12_809-11insGT rs774238821
NM_005159.5(ACTC1):c.809-12_809-11insGTGG rs774238821
NM_005159.5(ACTC1):c.809-18_809-17insTGTGTA rs1447068308
NM_005159.5(ACTC1):c.809-20_809-19insTGTA rs1194538397
NM_005159.5(ACTC1):c.809-58TG[12] rs59431308
NM_005159.5(ACTC1):c.809-58TG[13] rs59431308
NM_005159.5(ACTC1):c.809-58TG[14] rs59431308
NM_005159.5(ACTC1):c.809-58TG[15] rs59431308
NM_005159.5(ACTC1):c.809-58TG[16] rs59431308
NM_005159.5(ACTC1):c.809-58TG[17] rs59431308
NM_005159.5(ACTC1):c.809-58TG[18] rs59431308
NM_005159.5(ACTC1):c.809-58TG[19] rs59431308
NM_005159.5(ACTC1):c.809-58TG[20] 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.809-58TG[27] rs59431308
NM_005159.5(ACTC1):c.809-58TG[28] rs59431308
NM_005159.5(ACTC1):c.809-58TG[29] rs59431308
NM_005159.5(ACTC1):c.809-58TG[30] rs59431308
NM_005159.5(ACTC1):c.809-58TG[32]
NM_005159.5(ACTC1):c.809-8G>T rs767180775
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.852C>T (p.Ile284=)
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.861T>C (p.Cys287=)
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.885G>C (p.Leu295=) rs2140429649
NM_005159.5(ACTC1):c.886T>A (p.Tyr296Asn) rs730880402
NM_005159.5(ACTC1):c.889G>T (p.Ala297Ser) rs121912675
NM_005159.5(ACTC1):c.892A>G (p.Asn298Asp) rs1595760259
NM_005159.5(ACTC1):c.905C>A (p.Ser302Tyr)
NM_005159.5(ACTC1):c.906T>C (p.Ser302=) rs2140429615
NM_005159.5(ACTC1):c.908G>T (p.Gly303Val) rs1057518530
NM_005159.5(ACTC1):c.90C>A (p.Arg30=)
NM_005159.5(ACTC1):c.90C>T (p.Arg30=) rs1555419004
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.915C>T (p.Thr305=) rs1049511214
NM_005159.5(ACTC1):c.922T>C (p.Tyr308His) rs1566967093
NM_005159.5(ACTC1):c.92C>T (p.Ala31Val)
NM_005159.5(ACTC1):c.930T>C (p.Gly310=) rs561081869
NM_005159.5(ACTC1):c.934_935delinsT (p.Ala312fs) rs1595760229
NM_005159.5(ACTC1):c.93T>A (p.Ala31=)
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.951G>T (p.Lys317Asn)
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.969T>C (p.Ala323=)
NM_005159.5(ACTC1):c.970_973del (p.Pro324fs)
NM_005159.5(ACTC1):c.973A>G (p.Ser325Gly) rs1555418679
NM_005159.5(ACTC1):c.975C>T (p.Ser325=) rs939520463
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+15T>C
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.991-10C>T rs1298992263
NM_005159.5(ACTC1):c.991-10_991-8del
NM_005159.5(ACTC1):c.991-18T>G rs1891683495
NM_005159.5(ACTC1):c.991-2del
NM_005159.5(ACTC1):c.991-8T>A
NM_005159.5(ACTC1):c.991A>G (p.Ile331Val) rs730880405
NM_005159.5(ACTC1):c.993T>C (p.Ile331=)
NM_005159.5(ACTC1):c.997G>C (p.Ala333Pro) rs267606629
NM_005159.5(ACTC1):c.998C>T (p.Ala333Val) rs730880406
NM_005159.5(ACTC1):c.999T>C (p.Ala333=) rs1891683050
NM_005159.5(ACTC1):c.9C>T (p.Asp3=) rs535623090
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.525G>T (p.Ala175=) rs759587190
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_006079.5(CITED2):c.581GCGGCA[2] (p.196SG[1]) rs531316452
NM_006079.5(CITED2):c.701A>C (p.Glu234Ala) rs1583066622
NM_012464.5(TLL1):c.1379-2A>G rs1579663872
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.1885A>G (p.Ile629Val) rs137852953
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.544A>C (p.Met182Leu) rs137852951
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_015559.3(SETBP1):c.2614G>A (p.Gly872Arg) rs1555706928
NM_017780.4(CHD7):c.2867C>A (p.Ser956Ter) rs367557471
NM_018486.3(HDAC8):c.584T>G (p.Val195Gly) rs1556009247
NM_022455.5(NSD1):c.3839G>A (p.Trp1280Ter) rs587784105
NM_031407.7(HUWE1):c.6485G>C (p.Arg2162Pro) rs1556948950
NM_053025.4(MYLK):c.3637G>A (p.Val1213Met) rs368390254
NM_181486.4(TBX5):c.1221C>G (p.Tyr407Ter) rs1555223259
NM_181486.4(TBX5):c.253C>A (p.Pro85Thr) rs1565941579
NM_181486.4(TBX5):c.444G>A (p.Trp148Ter) rs1555226315

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