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
|
|