NM_006514.4(SCN10A):c.5137A>G (p.Met1713Val)
|
rs6599241
|
1.00000
|
NM_006514.4(SCN10A):c.4866T>C (p.Ser1622=)
|
rs6599242
|
0.93283
|
NM_005477.3(HCN4):c.3600A>G (p.Pro1200=)
|
rs529004
|
0.88237
|
NM_201596.3(CACNB2):c.*10G>T
|
rs4747352
|
0.76187
|
NM_006514.4(SCN10A):c.3218T>C (p.Val1073Ala)
|
rs6795970
|
0.70355
|
NM_006514.4(SCN10A):c.1868-9A>G
|
rs6599250
|
0.69912
|
NM_006514.4(SCN10A):c.3088-510A>G
|
rs6801957
|
0.67159
|
NM_001037.5(SCN1B):c.448+181T>C
|
rs55742440
|
0.42428
|
NM_201596.3(CACNB2):c.670+2843T>C
|
rs4748477
|
0.41677
|
NM_001377540.1(SLMAP):c.967-979A>G
|
rs9844865
|
0.33177
|
NM_006514.4(SCN10A):c.884-13T>C
|
rs7641844
|
0.30982
|
NM_000722.4(CACNA2D1):c.3114C>T (p.Pro1038=)
|
rs1229502
|
0.25231
|
NM_001377540.1(SLMAP):c.1443C>T (p.Asp481=)
|
rs17058639
|
0.23931
|
NM_006514.4(SCN10A):c.3275T>C (p.Leu1092Pro)
|
rs12632942
|
0.21722
|
NM_006514.4(SCN10A):c.3393C>G (p.Thr1131=)
|
rs6771157
|
0.21708
|
NM_006514.4(SCN10A):c.2884A>G (p.Ile962Val)
|
rs57326399
|
0.20797
|
NM_006514.4(SCN10A):c.4323A>G (p.Lys1441=)
|
rs6790627
|
0.20722
|
NM_006514.4(SCN10A):c.1476C>T (p.Leu492=)
|
rs7617919
|
0.20158
|
NM_006514.4(SCN10A):c.1284G>A (p.Glu428=)
|
rs62244070
|
0.20052
|
NM_001377540.1(SLMAP):c.828+11C>A
|
rs2306056
|
0.19942
|
NM_001037.5(SCN1B):c.40+15G>T
|
rs72556351
|
0.19938
|
NM_201596.3(CACNB2):c.1701C>T (p.Tyr567=)
|
rs2228645
|
0.19212
|
NM_201596.3(CACNB2):c.1054+7C>T
|
rs4314963
|
0.19120
|
NM_006514.4(SCN10A):c.2937C>T (p.Gly979=)
|
rs59468016
|
0.18899
|
NM_015141.4(GPD1L):c.408C>T (p.Asp136=)
|
rs9835387
|
0.17620
|
NM_006514.4(SCN10A):c.3192G>A (p.Thr1064=)
|
rs6791171
|
0.15667
|
NM_201596.3(CACNB2):c.1965T>G (p.Asp655Glu)
|
rs58225473
|
0.14908
|
NM_001037.5(SCN1B):c.448+296C>A
|
rs67701503
|
0.13979
|
NM_005472.5(KCNE3):c.198T>C (p.Phe66=)
|
rs2270676
|
0.12227
|
NM_012282.4(KCNE5):c.97C>T (p.Pro33Ser)
|
rs17003955
|
0.10059
|
NM_006514.4(SCN10A):c.1525T>C (p.Ser509Pro)
|
rs7630989
|
0.08988
|
NM_001040151.2(SCN3B):c.438C>T (p.Thr146=)
|
rs1275085
|
0.08505
|
NM_005477.3(HCN4):c.1558C>T (p.Leu520=)
|
rs12909882
|
0.07848
|
NM_006514.4(SCN10A):c.3088-20T>C
|
rs11129804
|
0.06869
|
NM_005477.3(HCN4):c.2556G>A (p.Pro852=)
|
rs117819825
|
0.04888
|
NM_005477.3(HCN4):c.107G>A (p.Gly36Glu)
|
rs143090627
|
0.04452
|
NM_000722.4(CACNA2D1):c.963G>A (p.Ala321=)
|
rs2229952
|
0.03521
|
NM_001377540.1(SLMAP):c.1300+14A>G
|
rs111294347
|
0.03108
|
NM_001037.5(SCN1B):c.207+14G>A
|
rs16969924
|
0.02860
|
NM_001377540.1(SLMAP):c.2145G>A (p.Gln715=)
|
rs17745496
|
0.02362
|
NM_000722.4(CACNA2D1):c.1279T>C (p.Leu427=)
|
rs37133
|
0.02238
|
NM_006514.4(SCN10A):c.5217C>T (p.Asp1739=)
|
rs116353929
|
0.02232
|
NM_015141.4(GPD1L):c.959+16G>A
|
rs72546643
|
0.01970
|
NM_006514.4(SCN10A):c.4710G>A (p.Thr1570=)
|
rs78425180
|
0.01966
|
NM_001037.5(SCN1B):c.501T>C (p.Ile167=)
|
rs16969930
|
0.01942
|
NM_004982.4(KCNJ8):c.291C>G (p.Ala97=)
|
rs34524779
|
0.01829
|
NM_004982.4(KCNJ8):c.1001T>C (p.Val334Ala)
|
rs34811413
|
0.01825
|
NM_006514.4(SCN10A):c.3133C>A (p.Pro1045Thr)
|
rs73062575
|
0.01804
|
NM_001377540.1(SLMAP):c.1968T>A (p.Leu656=)
|
rs35219531
|
0.01667
|
NM_005477.3(HCN4):c.1737+20G>A
|
rs115706632
|
0.01520
|
NM_006514.4(SCN10A):c.4090-19C>T
|
rs77494117
|
0.01447
|
NM_006514.4(SCN10A):c.618A>G (p.Ile206Met)
|
rs74717885
|
0.01345
|
NM_005477.3(HCN4):c.1839C>T (p.Phe613=)
|
rs117731813
|
0.01108
|
NM_201596.3(CACNB2):c.1518C>T (p.Arg506=)
|
rs34813638
|
0.01090
|
NM_004982.4(KCNJ8):c.855G>A (p.Leu285=)
|
rs34093632
|
0.01061
|
NM_005477.3(HCN4):c.1683C>A (p.Gly561=)
|
rs62641690
|
0.01030
|
NM_005477.3(HCN4):c.3337A>G (p.Met1113Val)
|
rs142735148
|
0.00983
|
NM_005477.3(HCN4):c.3033T>G (p.Ser1011=)
|
rs186728422
|
0.00931
|
NM_001037.5(SCN1B):c.591-14C>A
|
rs28365109
|
0.00920
|
NM_201596.3(CACNB2):c.1785C>T (p.His595=)
|
rs61733967
|
0.00879
|
NM_201596.3(CACNB2):c.993G>A (p.Ser331=)
|
rs76956014
|
0.00852
|
NM_006514.4(SCN10A):c.5089G>A (p.Val1697Ile)
|
rs77804526
|
0.00850
|
NM_000722.4(CACNA2D1):c.659-19del
|
rs756130642
|
0.00820
|
NM_000722.4(CACNA2D1):c.2205-18G>A
|
rs77599790
|
0.00807
|
NM_005477.3(HCN4):c.2979G>A (p.Thr993=)
|
rs75307879
|
0.00796
|
NM_201596.3(CACNB2):c.1794T>C (p.Ser598=)
|
rs34503140
|
0.00787
|
NM_000722.4(CACNA2D1):c.659-18_659-17insC
|
rs1554387291
|
0.00740
|
NM_005477.3(HCN4):c.2648C>G (p.Pro883Arg)
|
rs148398509
|
0.00737
|
NM_005477.3(HCN4):c.1591-19C>A
|
rs41279186
|
0.00720
|
NM_000722.4(CACNA2D1):c.1332C>T (p.Val444=)
|
rs73151504
|
0.00692
|
NM_006514.4(SCN10A):c.45C>T (p.Arg15=)
|
rs34314583
|
0.00684
|
NM_005477.3(HCN4):c.2673G>A (p.Ser891=)
|
rs191092709
|
0.00666
|
NM_006514.4(SCN10A):c.3087+15C>T
|
rs140924179
|
0.00650
|
NM_004982.4(KCNJ8):c.793T>C (p.Leu265=)
|
rs16924297
|
0.00638
|
NM_005477.3(HCN4):c.36C>G (p.Leu12=)
|
rs201193660
|
0.00635
|
NM_015141.4(GPD1L):c.366+8G>A
|
rs72546650
|
0.00621
|
NM_015141.4(GPD1L):c.396G>A (p.Lys132=)
|
rs61741845
|
0.00618
|
NM_001037.5(SCN1B):c.*76G>T
|
rs367768639
|
0.00605
|
NM_000722.4(CACNA2D1):c.1144-18A>G
|
rs78174406
|
0.00599
|
NM_201596.3(CACNB2):c.1206+6T>C
|
rs147857449
|
0.00575
|
NM_015141.4(GPD1L):c.573C>G (p.Thr191=)
|
rs72558073
|
0.00545
|
NM_001037.5(SCN1B):c.300C>T (p.Asp100=)
|
rs16969927
|
0.00539
|
NM_015141.4(GPD1L):c.81T>C (p.Asn27=)
|
rs34278284
|
0.00515
|
NM_000722.4(CACNA2D1):c.659-17T>C
|
rs201932919
|
0.00513
|
NM_005477.3(HCN4):c.3288C>T (p.Asp1096=)
|
rs116042117
|
0.00490
|
NM_006514.4(SCN10A):c.4009T>A (p.Ser1337Thr)
|
rs11711062
|
0.00451
|
NM_006514.4(SCN10A):c.4657+16C>T
|
rs115824540
|
0.00446
|
NM_006514.4(SCN10A):c.4656G>A (p.Ala1552=)
|
rs151182542
|
0.00431
|
NM_005477.3(HCN4):c.2831C>T (p.Ala944Val)
|
rs144450232
|
0.00416
|
NM_000722.4(CACNA2D1):c.3134A>C (p.Asp1045Ala)
|
rs35131433
|
0.00374
|
NM_006514.4(SCN10A):c.1768G>A (p.Gly590Arg)
|
rs35332705
|
0.00371
|
NM_201596.3(CACNB2):c.1488+13_1488+33dup
|
rs757040188
|
0.00361
|
NM_201596.3(CACNB2):c.873G>A (p.Leu291=)
|
rs138423466
|
0.00355
|
NM_000722.4(CACNA2D1):c.659-19C>T
|
rs200166451
|
0.00353
|
NM_005477.3(HCN4):c.2601C>A (p.Ala867=)
|
rs143188160
|
0.00352
|
NM_005477.3(HCN4):c.2657C>T (p.Ala886Val)
|
rs200575377
|
0.00352
|
NM_005472.5(KCNE3):c.248G>A (p.Arg83His)
|
rs17215437
|
0.00338
|
NM_006514.4(SCN10A):c.5657C>T (p.Ala1886Val)
|
rs142653846
|
0.00318
|
NM_001377540.1(SLMAP):c.2064C>T (p.Thr688=)
|
rs146313438
|
0.00301
|
NM_005477.3(HCN4):c.1371+8C>T
|
rs199838832
|
0.00295
|
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val)
|
rs72552293
|
0.00291
|
NM_201596.3(CACNB2):c.915T>C (p.Phe305=)
|
rs149586418
|
0.00282
|
NM_006514.4(SCN10A):c.4416C>T (p.Ile1472=)
|
rs144944369
|
0.00267
|
NM_006514.4(SCN10A):c.3803G>A (p.Arg1268Gln)
|
rs138832868
|
0.00259
|
NM_005477.3(HCN4):c.2275G>A (p.Val759Ile)
|
rs62641689
|
0.00258
|
NM_001377540.1(SLMAP):c.495A>G (p.Leu165=)
|
rs149758819
|
0.00253
|
NM_001037.5(SCN1B):c.28G>A (p.Gly10Ser)
|
rs72552027
|
0.00249
|
NM_006514.4(SCN10A):c.3229-20C>T
|
rs73825880
|
0.00248
|
NM_001037.5(SCN1B):c.267C>T (p.Arg89=)
|
rs140949982
|
0.00232
|
NM_001040151.2(SCN3B):c.582C>T (p.Asn194=)
|
rs34964168
|
0.00232
|
NM_006514.4(SCN10A):c.950+17T>C
|
rs188914048
|
0.00231
|
NM_001037.5(SCN1B):c.448+193G>A
|
rs66876876
|
0.00227
|
NM_000722.4(CACNA2D1):c.2126G>A (p.Ser709Asn)
|
rs78086631
|
0.00226
|
NM_006514.4(SCN10A):c.1453C>T (p.Arg485Cys)
|
rs151153639
|
0.00217
|
NM_000722.4(CACNA2D1):c.1983G>A (p.Ser661=)
|
rs75158917
|
0.00199
|
NM_015141.4(GPD1L):c.981G>A (p.Val327=)
|
rs144877595
|
0.00195
|
NM_005477.3(HCN4):c.3587G>A (p.Arg1196His)
|
rs147181577
|
0.00191
|
NM_000722.4(CACNA2D1):c.2837-7A>G
|
rs112176710
|
0.00187
|
NM_005477.3(HCN4):c.3350C>T (p.Pro1117Leu)
|
rs140402087
|
0.00185
|
NM_201596.3(CACNB2):c.1511C>T (p.Thr504Ile)
|
rs143326262
|
0.00181
|
NM_001037.5(SCN1B):c.448+321G>A
|
rs72558028
|
0.00173
|
NM_000722.4(CACNA2D1):c.2673A>G (p.Val891=)
|
rs142553634
|
0.00168
|
NM_005477.3(HCN4):c.1978+3G>T
|
rs113112855
|
0.00166
|
NM_001037.5(SCN1B):c.448+29C>T
|
rs186759145
|
0.00163
|
NM_005477.3(HCN4):c.1518C>T (p.Tyr506=)
|
rs139590882
|
0.00163
|
NM_005477.3(HCN4):c.458A>G (p.Glu153Gly)
|
rs560874115
|
0.00149
|
NM_006514.4(SCN10A):c.268C>T (p.Arg90Trp)
|
rs144270136
|
0.00148
|
NM_001377540.1(SLMAP):c.829-15A>G
|
rs142871558
|
0.00143
|
NM_000722.4(CACNA2D1):c.1038+12G>A
|
rs117959542
|
0.00141
|
NM_006514.4(SCN10A):c.4568G>A (p.Cys1523Tyr)
|
rs142217269
|
0.00134
|
NM_001377540.1(SLMAP):c.2272A>T (p.Ser758Cys)
|
rs143689400
|
0.00131
|
NM_015141.4(GPD1L):c.659G>A (p.Arg220His)
|
rs72546648
|
0.00130
|
NM_006514.4(SCN10A):c.5496T>C (p.Thr1832=)
|
rs112374164
|
0.00127
|
NM_006514.4(SCN10A):c.2475A>C (p.Glu825Asp)
|
rs146028829
|
0.00123
|
NM_005477.3(HCN4):c.546C>G (p.Pro182=)
|
rs571671463
|
0.00122
|
NM_004982.4(KCNJ8):c.1265C>T (p.Ser422Leu)
|
rs72554071
|
0.00121
|
NM_015141.4(GPD1L):c.465C>T (p.Ala155=)
|
rs113645050
|
0.00121
|
NM_001037.5(SCN1B):c.588T>C (p.Asn196=)
|
rs77244433
|
0.00117
|
NM_005477.3(HCN4):c.1356C>T (p.Ser452=)
|
rs148453034
|
0.00116
|
NM_201596.3(CACNB2):c.1975C>T (p.Arg659Cys)
|
rs77141223
|
0.00115
|
NM_201596.3(CACNB2):c.354G>A (p.Ala118=)
|
rs182163363
|
0.00107
|
NM_201596.3(CACNB2):c.1560T>C (p.Pro520=)
|
rs150280879
|
0.00099
|
NM_006514.4(SCN10A):c.5295G>A (p.Ser1765=)
|
rs145313578
|
0.00097
|
NM_201596.3(CACNB2):c.1293G>A (p.Gln431=)
|
rs148414498
|
0.00093
|
NM_012282.4(KCNE5):c.210C>T (p.Tyr70=)
|
rs142564059
|
0.00089
|
NM_004982.4(KCNJ8):c.897G>A (p.Val299=)
|
rs139329310
|
0.00088
|
NM_006514.4(SCN10A):c.3859G>A (p.Val1287Ile)
|
rs145032037
|
0.00086
|
NM_000722.4(CACNA2D1):c.1735-6T>C
|
rs111772206
|
0.00084
|
NM_005477.3(HCN4):c.3010C>T (p.Pro1004Ser)
|
rs201418838
|
0.00084
|
NM_005477.3(HCN4):c.1653C>A (p.Ile551=)
|
rs141966309
|
0.00083
|
NM_000722.4(CACNA2D1):c.780-8A>G
|
rs201901297
|
0.00082
|
NM_001037.5(SCN1B):c.351C>T (p.Gly117=)
|
rs3746255
|
0.00082
|
NM_001377540.1(SLMAP):c.1776T>C (p.Asp592=)
|
rs554868355
|
0.00080
|
NM_201596.3(CACNB2):c.1553A>C (p.Glu518Ala)
|
rs138060429
|
0.00079
|
NM_201596.3(CACNB2):c.641G>C (p.Ser214Thr)
|
rs149253719
|
0.00078
|
NM_005477.3(HCN4):c.246C>T (p.Arg82=)
|
rs775895751
|
0.00077
|
NM_000722.4(CACNA2D1):c.1735-8del
|
rs554101334
|
0.00076
|
NM_005477.3(HCN4):c.1703G>C (p.Ser568Thr)
|
rs138714806
|
0.00076
|
NM_000722.4(CACNA2D1):c.2309-9T>A
|
rs370816599
|
0.00073
|
NM_006514.4(SCN10A):c.1867+13C>T
|
rs138063699
|
0.00072
|
NM_005477.3(HCN4):c.3577G>C (p.Glu1193Gln)
|
rs200507617
|
0.00068
|
NM_006514.4(SCN10A):c.2972C>T (p.Pro991Leu)
|
rs138413438
|
0.00068
|
NM_000722.4(CACNA2D1):c.2264G>C (p.Ser755Thr)
|
rs151327713
|
0.00067
|
NM_001377540.1(SLMAP):c.1991A>G (p.Gln664Arg)
|
rs35029175
|
0.00066
|
NM_201596.3(CACNB2):c.590C>T (p.Ser197Phe)
|
rs150528041
|
0.00064
|
NM_000722.4(CACNA2D1):c.2058C>T (p.Asn686=)
|
rs147499376
|
0.00062
|
NM_006514.4(SCN10A):c.648A>C (p.Thr216=)
|
rs150977149
|
0.00060
|
NM_001037.5(SCN1B):c.412G>A (p.Val138Ile)
|
rs72558029
|
0.00058
|
NM_001040151.2(SCN3B):c.629C>T (p.Ala210Val)
|
rs186341159
|
0.00058
|
NM_015141.4(GPD1L):c.619-9C>G
|
rs2044880
|
0.00057
|
NM_201596.3(CACNB2):c.1592G>A (p.Arg531His)
|
rs184280124
|
0.00057
|
NM_005477.3(HCN4):c.2739G>A (p.Ala913=)
|
rs373411041
|
0.00056
|
NM_006514.4(SCN10A):c.1138G>A (p.Val380Ile)
|
rs142276689
|
0.00055
|
NM_015141.4(GPD1L):c.828C>T (p.Ala276=)
|
rs200392121
|
0.00055
|
NM_006514.4(SCN10A):c.55G>A (p.Glu19Lys)
|
rs141810266
|
0.00054
|
NM_006514.4(SCN10A):c.853G>A (p.Glu285Lys)
|
rs146151670
|
0.00054
|
NM_000722.4(CACNA2D1):c.651T>C (p.Tyr217=)
|
rs146819424
|
0.00053
|
NM_006514.4(SCN10A):c.4282-13G>A
|
rs374834768
|
0.00053
|
NM_006514.4(SCN10A):c.5358C>T (p.Ile1786=)
|
rs188413410
|
0.00053
|
NM_201596.3(CACNB2):c.805-3C>T
|
rs764050459
|
0.00052
|
NM_004982.4(KCNJ8):c.507C>T (p.Ile169=)
|
rs139304559
|
0.00051
|
NM_001037.5(SCN1B):c.448+112G>A
|
rs72558026
|
0.00049
|
NM_005477.3(HCN4):c.3187C>A (p.Pro1063Thr)
|
rs535227661
|
0.00049
|
NM_006514.4(SCN10A):c.4872C>T (p.Phe1624=)
|
rs149642957
|
0.00049
|
NM_005477.3(HCN4):c.1371+9G>A
|
rs200303699
|
0.00048
|
NM_006514.4(SCN10A):c.3674T>C (p.Ile1225Thr)
|
rs139638446
|
0.00048
|
NM_000722.4(CACNA2D1):c.2397T>A (p.Val799=)
|
rs191213592
|
0.00047
|
NM_000722.4(CACNA2D1):c.2768C>G (p.Thr923Ser)
|
rs139608070
|
0.00047
|
NM_006514.4(SCN10A):c.4984G>A (p.Gly1662Ser)
|
rs151090729
|
0.00047
|
NM_012282.4(KCNE5):c.346G>A (p.Ala116Thr)
|
rs764993726
|
0.00047
|
NM_005477.3(HCN4):c.2694C>T (p.Gly898=)
|
rs375169111
|
0.00046
|
NM_005477.3(HCN4):c.2800C>T (p.Arg934Cys)
|
rs199638465
|
0.00045
|
NM_201596.3(CACNB2):c.1776C>A (p.Asp592Glu)
|
rs144182966
|
0.00045
|
NM_000722.4(CACNA2D1):c.2502C>T (p.Asp834=)
|
rs142390338
|
0.00044
|
NM_006514.4(SCN10A):c.2842G>C (p.Val948Leu)
|
rs145694222
|
0.00044
|
NM_001037.5(SCN1B):c.448+314C>A
|
rs373295182
|
0.00043
|
NM_005477.3(HCN4):c.2210A>G (p.Gln737Arg)
|
rs146732972
|
0.00043
|
NM_000722.4(CACNA2D1):c.1965C>T (p.Cys655=)
|
rs184261698
|
0.00041
|
NM_006514.4(SCN10A):c.1141A>G (p.Ile381Val)
|
rs150923753
|
0.00041
|
NM_006514.4(SCN10A):c.2441G>A (p.Arg814His)
|
rs139861061
|
0.00041
|
NM_001040151.2(SCN3B):c.15T>C (p.Asn5=)
|
rs36016311
|
0.00040
|
NM_006514.4(SCN10A):c.308G>A (p.Arg103Gln)
|
rs199973777
|
0.00040
|
NM_006514.4(SCN10A):c.1430C>T (p.Pro477Leu)
|
rs142235256
|
0.00039
|
NM_201596.3(CACNB2):c.1054+18G>A
|
rs192538011
|
0.00039
|
NM_000722.4(CACNA2D1):c.645T>A (p.Ala215=)
|
rs140492813
|
0.00038
|
NM_001377540.1(SLMAP):c.2142T>C (p.Ser714=)
|
rs377705075
|
0.00038
|
NM_006514.4(SCN10A):c.1266C>T (p.Leu422=)
|
rs143438557
|
0.00038
|
NM_006514.4(SCN10A):c.1461+19T>A
|
rs199927297
|
0.00038
|
NM_000722.4(CACNA2D1):c.1273-11C>T
|
rs1410751702
|
0.00036
|
NM_001037.5(SCN1B):c.590+16G>A
|
rs201053958
|
0.00036
|
NM_001040151.2(SCN3B):c.29T>C (p.Leu10Pro)
|
rs121918282
|
0.00036
|
NM_001377540.1(SLMAP):c.2055A>G (p.Ala685=)
|
rs141033845
|
0.00036
|
NM_005477.3(HCN4):c.2181C>T (p.His727=)
|
rs140354126
|
0.00036
|
NM_005477.3(HCN4):c.2420G>A (p.Arg807His)
|
rs200395062
|
0.00036
|
NM_006514.4(SCN10A):c.251C>T (p.Pro84Leu)
|
rs140609990
|
0.00036
|
NM_000722.4(CACNA2D1):c.2463+13T>A
|
rs771850068
|
0.00034
|
NM_015141.4(GPD1L):c.520G>A (p.Glu174Lys)
|
rs112122950
|
0.00034
|
NM_001037.5(SCN1B):c.448+320C>T
|
rs570257058
|
0.00033
|
NM_006514.4(SCN10A):c.281T>G (p.Val94Gly)
|
rs202143516
|
0.00033
|
NM_006514.4(SCN10A):c.472T>G (p.Tyr158Asp)
|
rs202192818
|
0.00033
|
NM_006514.4(SCN10A):c.905G>A (p.Arg302Gln)
|
rs201955990
|
0.00033
|
NM_004982.4(KCNJ8):c.1036G>A (p.Val346Ile)
|
rs147316959
|
0.00032
|
NM_006514.4(SCN10A):c.1858G>A (p.Val620Ile)
|
rs151303346
|
0.00032
|
NM_006514.4(SCN10A):c.5603A>C (p.His1868Pro)
|
rs115463830
|
0.00032
|
NM_201596.3(CACNB2):c.1488+8G>A
|
rs375215183
|
0.00032
|
NM_201596.3(CACNB2):c.1650C>T (p.Ser550=)
|
rs149330185
|
0.00032
|
NM_000722.4(CACNA2D1):c.1482G>A (p.Leu494=)
|
rs141344702
|
0.00031
|
NM_000722.4(CACNA2D1):c.659-15T>A
|
rs1046985886
|
0.00031
|
NM_006514.4(SCN10A):c.179G>A (p.Cys60Tyr)
|
rs145900411
|
0.00031
|
NM_006514.4(SCN10A):c.3291C>G (p.Ile1097Met)
|
rs148041371
|
0.00031
|
NM_006514.4(SCN10A):c.4053T>C (p.Asp1351=)
|
rs139073590
|
0.00031
|
NM_015141.4(GPD1L):c.813G>T (p.Arg271=)
|
rs35464343
|
0.00031
|
NM_201596.3(CACNB2):c.804+146G>T
|
rs199539261
|
0.00031
|
NM_005477.3(HCN4):c.561T>C (p.Ala187=)
|
rs375206856
|
0.00030
|
NM_006514.4(SCN10A):c.2428G>T (p.Gly810Trp)
|
rs145712124
|
0.00030
|
NM_001040151.2(SCN3B):c.328G>A (p.Val110Ile)
|
rs147205617
|
0.00029
|
NM_005477.3(HCN4):c.1090G>A (p.Asp364Asn)
|
rs151004999
|
0.00029
|
NM_005477.3(HCN4):c.1656C>T (p.His552=)
|
rs148142070
|
0.00029
|
NM_006514.4(SCN10A):c.3482T>C (p.Met1161Thr)
|
rs200713724
|
0.00029
|
NM_201596.3(CACNB2):c.967G>A (p.Ala323Thr)
|
rs561197163
|
0.00029
|
NM_001377540.1(SLMAP):c.2042A>G (p.Lys681Arg)
|
rs150439110
|
0.00028
|
NM_005477.3(HCN4):c.1372-13C>T
|
rs374981035
|
0.00028
|
NM_006514.4(SCN10A):c.1713G>A (p.Pro571=)
|
rs148905110
|
0.00028
|
NM_012282.4(KCNE5):c.55G>T (p.Glu19Ter)
|
rs374389286
|
0.00028
|
NM_006514.4(SCN10A):c.2106+8C>T
|
rs368212766
|
0.00027
|
NM_000722.4(CACNA2D1):c.1273-12T>C
|
rs560674806
|
0.00026
|
NM_000722.4(CACNA2D1):c.1405A>G (p.Ile469Val)
|
rs139439725
|
0.00026
|
NM_005477.3(HCN4):c.2668C>T (p.Pro890Ser)
|
rs184801511
|
0.00026
|
NM_006514.4(SCN10A):c.3542C>T (p.Thr1181Met)
|
rs150773437
|
0.00026
|
NM_201596.3(CACNB2):c.1357C>T (p.Leu453Phe)
|
rs145638628
|
0.00026
|
NM_201596.3(CACNB2):c.1488+9A>G
|
rs368473992
|
0.00026
|
NM_201596.3(CACNB2):c.1936C>T (p.Arg646Trp)
|
rs546669133
|
0.00026
|
NM_001040151.2(SCN3B):c.327C>T (p.Asn109=)
|
rs199937307
|
0.00025
|
NM_001377540.1(SLMAP):c.1739G>T (p.Arg580Leu)
|
rs138744399
|
0.00025
|
NM_006514.4(SCN10A):c.5047C>T (p.Pro1683Ser)
|
rs146999807
|
0.00025
|
NM_000722.4(CACNA2D1):c.1516-14T>C
|
rs375141743
|
0.00024
|
NM_000722.4(CACNA2D1):c.60C>T (p.Gly20=)
|
rs780748693
|
0.00024
|
NM_005477.3(HCN4):c.1014G>C (p.Leu338=)
|
rs147771899
|
0.00024
|
NM_005477.3(HCN4):c.1536C>T (p.His512=)
|
rs146306966
|
0.00024
|
NM_005477.3(HCN4):c.1635C>T (p.Pro545=)
|
rs140015730
|
0.00024
|
NM_006514.4(SCN10A):c.2043C>T (p.Phe681=)
|
rs367743519
|
0.00024
|
NM_006514.4(SCN10A):c.4378C>T (p.Arg1460Trp)
|
rs148619598
|
0.00024
|
NM_000722.4(CACNA2D1):c.397-6A>G
|
rs200817801
|
0.00023
|
NM_001377540.1(SLMAP):c.1301-12T>C
|
rs376904413
|
0.00023
|
NM_006514.4(SCN10A):c.969T>C (p.Tyr323=)
|
rs143668889
|
0.00023
|
NM_006514.4(SCN10A):c.1163T>C (p.Leu388Pro)
|
rs199734710
|
0.00022
|
NM_006514.4(SCN10A):c.1370A>G (p.Glu457Gly)
|
rs766017851
|
0.00022
|
NM_006514.4(SCN10A):c.3152G>A (p.Gly1051Glu)
|
rs528738403
|
0.00022
|
NM_012282.4(KCNE5):c.241T>C (p.Tyr81His)
|
rs199924386
|
0.00022
|
NM_201596.3(CACNB2):c.380C>T (p.Ala127Val)
|
rs200367454
|
0.00022
|
NM_001037.5(SCN1B):c.348G>A (p.Ser116=)
|
rs375050816
|
0.00021
|
NM_001037.5(SCN1B):c.448+345C>T
|
rs754815235
|
0.00021
|
NM_001037.5(SCN1B):c.632G>A (p.Cys211Tyr)
|
rs150721582
|
0.00021
|
NM_004982.4(KCNJ8):c.111C>T (p.Ile37=)
|
rs112604741
|
0.00021
|
NM_005477.3(HCN4):c.2109C>T (p.Phe703=)
|
rs150378994
|
0.00021
|
NM_005477.3(HCN4):c.2901C>T (p.Ser967=)
|
rs570068696
|
0.00021
|
NM_006514.4(SCN10A):c.3753C>A (p.Thr1251=)
|
rs144350950
|
0.00021
|
NM_006514.4(SCN10A):c.4552G>A (p.Val1518Ile)
|
rs202040659
|
0.00021
|
NM_006514.4(SCN10A):c.5630C>T (p.Pro1877Leu)
|
rs143523403
|
0.00021
|
NM_006514.4(SCN10A):c.724T>A (p.Ser242Thr)
|
rs140288103
|
0.00021
|
NM_005477.3(HCN4):c.2465C>T (p.Thr822Met)
|
rs201143364
|
0.00020
|
NM_000722.4(CACNA2D1):c.1735-17G>A
|
rs367841992
|
0.00019
|
NM_001377540.1(SLMAP):c.1238-5A>G
|
rs201629993
|
0.00019
|
NM_001377540.1(SLMAP):c.1442-20T>A
|
rs373950062
|
0.00019
|
NM_004982.4(KCNJ8):c.263C>G (p.Ala88Gly)
|
rs117808169
|
0.00019
|
NM_006514.4(SCN10A):c.1118A>G (p.Tyr373Cys)
|
rs147835034
|
0.00019
|
NM_006514.4(SCN10A):c.4089+12A>T
|
rs151164057
|
0.00019
|
NM_006514.4(SCN10A):c.53C>T (p.Pro18Leu)
|
rs190176472
|
0.00019
|
NM_015141.4(GPD1L):c.459C>T (p.Asn153=)
|
rs375532052
|
0.00019
|
NM_201596.3(CACNB2):c.1055C>T (p.Ala352Val)
|
rs144367884
|
0.00019
|
NM_201596.3(CACNB2):c.1591C>T (p.Arg531Cys)
|
rs202152674
|
0.00019
|
NM_201596.3(CACNB2):c.634G>C (p.Val212Leu)
|
rs149167651
|
0.00019
|
NM_000722.4(CACNA2D1):c.2751A>T (p.Gln917His)
|
rs145109446
|
0.00018
|
NM_004982.4(KCNJ8):c.332A>G (p.Glu111Gly)
|
rs138391404
|
0.00018
|
NM_005477.3(HCN4):c.302C>T (p.Ala101Val)
|
rs781730381
|
0.00018
|
NM_006514.4(SCN10A):c.1908C>T (p.Thr636=)
|
rs147235762
|
0.00018
|
NM_006514.4(SCN10A):c.3173C>T (p.Ala1058Val)
|
rs370202955
|
0.00018
|
NM_015141.4(GPD1L):c.247G>A (p.Glu83Lys)
|
rs72552292
|
0.00018
|
NM_000722.4(CACNA2D1):c.2983A>C (p.Lys995Gln)
|
rs749398266
|
0.00017
|
NM_000722.4(CACNA2D1):c.3160-17T>C
|
rs564122741
|
0.00017
|
NM_001377540.1(SLMAP):c.2020+5A>G
|
rs199881493
|
0.00017
|
NM_006514.4(SCN10A):c.5200G>A (p.Glu1734Lys)
|
rs200645452
|
0.00017
|
NM_201596.3(CACNB2):c.1298C>G (p.Pro433Arg)
|
rs200764884
|
0.00017
|
NM_000722.4(CACNA2D1):c.532A>G (p.Ile178Val)
|
rs80063198
|
0.00016
|
NM_001037.5(SCN1B):c.207+7G>A
|
rs374588869
|
0.00016
|
NM_001040151.2(SCN3B):c.583G>A (p.Ala195Thr)
|
rs375755770
|
0.00016
|
NM_001377540.1(SLMAP):c.1311C>T (p.Ile437=)
|
rs369261823
|
0.00016
|
NM_005477.3(HCN4):c.2313C>T (p.Pro771=)
|
rs142298104
|
0.00016
|
NM_005477.3(HCN4):c.2904G>A (p.Pro968=)
|
rs368145651
|
0.00016
|
NM_006514.4(SCN10A):c.2709C>T (p.Asp903=)
|
rs368637625
|
0.00016
|
NM_006514.4(SCN10A):c.365C>T (p.Thr122Met)
|
rs142884499
|
0.00016
|
NM_006514.4(SCN10A):c.4607C>G (p.Thr1536Arg)
|
rs778754301
|
0.00016
|
NM_015141.4(GPD1L):c.1038C>T (p.Ser346=)
|
rs147092668
|
0.00016
|
NM_000722.4(CACNA2D1):c.3081C>T (p.Asp1027=)
|
rs568821967
|
0.00015
|
NM_001377540.1(SLMAP):c.1063G>A (p.Glu355Lys)
|
rs149548827
|
0.00015
|
NM_001377540.1(SLMAP):c.1703A>G (p.Gln568Arg)
|
rs141727742
|
0.00015
|
NM_001377540.1(SLMAP):c.2020+20A>G
|
rs202130040
|
0.00015
|
NM_001377540.1(SLMAP):c.615+6C>T
|
rs200859030
|
0.00015
|
NM_005477.3(HCN4):c.1089C>T (p.Ile363=)
|
rs140902511
|
0.00015
|
NM_006514.4(SCN10A):c.1389G>T (p.Lys463Asn)
|
rs201575317
|
0.00015
|
NM_006514.4(SCN10A):c.1477G>A (p.Ala493Thr)
|
rs146596599
|
0.00015
|
NM_006514.4(SCN10A):c.2874T>C (p.Ala958=)
|
rs776705318
|
0.00015
|
NM_006514.4(SCN10A):c.4849G>T (p.Val1617Phe)
|
rs375940680
|
0.00015
|
NM_015141.4(GPD1L):c.445C>T (p.Leu149=)
|
rs146738300
|
0.00015
|
NM_000722.4(CACNA2D1):c.1222+4A>T
|
rs79571328
|
0.00014
|
NM_000722.4(CACNA2D1):c.960C>T (p.Asp320=)
|
rs199512133
|
0.00014
|
NM_001037.5(SCN1B):c.471C>T (p.Ile157=)
|
rs765269835
|
0.00014
|
NM_005472.5(KCNE3):c.116C>G (p.Pro39Arg)
|
rs34604640
|
0.00014
|
NM_005477.3(HCN4):c.1738-6C>T
|
rs760763085
|
0.00014
|
NM_005477.3(HCN4):c.1797G>A (p.Ala599=)
|
rs371484779
|
0.00014
|
NM_005477.3(HCN4):c.2730C>A (p.Phe910Leu)
|
rs200814534
|
0.00014
|
NM_005477.3(HCN4):c.3012G>A (p.Pro1004=)
|
rs377602893
|
0.00014
|
NM_006514.4(SCN10A):c.1315A>G (p.Thr439Ala)
|
rs146536985
|
0.00014
|
NM_006514.4(SCN10A):c.4581G>A (p.Met1527Ile)
|
rs369978695
|
0.00014
|
NM_006514.4(SCN10A):c.585C>T (p.Ser195=)
|
rs368232949
|
0.00014
|
NM_201596.3(CACNB2):c.1055-12C>T
|
rs376222853
|
0.00014
|
NM_201596.3(CACNB2):c.1696G>A (p.Ala566Thr)
|
rs202218948
|
0.00014
|
NM_000722.4(CACNA2D1):c.1569A>G (p.Leu523=)
|
rs200510364
|
0.00013
|
NM_000722.4(CACNA2D1):c.3265C>T (p.Arg1089Cys)
|
rs550794714
|
0.00013
|
NM_001377540.1(SLMAP):c.1923T>C (p.Ser641=)
|
rs373485907
|
0.00013
|
NM_001377540.1(SLMAP):c.787C>G (p.Gln263Glu)
|
rs765000724
|
0.00013
|
NM_005477.3(HCN4):c.2025C>T (p.Ala675=)
|
rs149033101
|
0.00013
|
NM_006514.4(SCN10A):c.2737G>A (p.Ala913Thr)
|
rs201054824
|
0.00013
|
NM_006514.4(SCN10A):c.2816C>T (p.Pro939Leu)
|
rs202174472
|
0.00013
|
NM_006514.4(SCN10A):c.3417G>C (p.Trp1139Cys)
|
rs143744796
|
0.00013
|
NM_015141.4(GPD1L):c.837C>T (p.Phe279=)
|
rs376724853
|
0.00013
|
NM_201596.3(CACNB2):c.306G>A (p.Gln102=)
|
rs571930944
|
0.00013
|
NM_000722.4(CACNA2D1):c.1530G>A (p.Gly510=)
|
rs757607965
|
0.00012
|
NM_000722.4(CACNA2D1):c.3160-23_3160-20del
|
rs777223558
|
0.00012
|
NM_000722.4(CACNA2D1):c.728+13A>C
|
rs149406906
|
0.00012
|
NM_001037.5(SCN1B):c.448+114C>G
|
rs1159393836
|
0.00012
|
NM_001377540.1(SLMAP):c.199-14G>T
|
rs558579683
|
0.00012
|
NM_005472.5(KCNE3):c.26C>T (p.Thr9Ile)
|
rs139040374
|
0.00012
|
NM_005477.3(HCN4):c.2247C>T (p.Asp749=)
|
rs761996837
|
0.00012
|
NM_005477.3(HCN4):c.2701G>A (p.Ala901Thr)
|
rs201742383
|
0.00012
|
NM_005477.3(HCN4):c.3220C>T (p.Leu1074Phe)
|
rs200399862
|
0.00012
|
NM_005477.3(HCN4):c.621C>G (p.Arg207=)
|
rs727503958
|
0.00012
|
NM_006514.4(SCN10A):c.1157T>G (p.Phe386Cys)
|
rs78555408
|
0.00012
|
NM_015141.4(GPD1L):c.467A>G (p.Asn156Ser)
|
rs139494055
|
0.00012
|
NM_000335.5(SCN5A):c.3832G>A (p.Val1278Ile)
|
rs199473341
|
0.00011
|
NM_000722.4(CACNA2D1):c.1648G>T (p.Asp550Tyr)
|
rs542692632
|
0.00011
|
NM_000722.4(CACNA2D1):c.1686G>C (p.Gly562=)
|
rs148283249
|
0.00011
|
NM_000722.4(CACNA2D1):c.2837-18C>T
|
rs370496790
|
0.00011
|
NM_000722.4(CACNA2D1):c.2919C>T (p.Asn973=)
|
rs374073497
|
0.00011
|
NM_000722.4(CACNA2D1):c.897G>C (p.Gln299His)
|
rs141238313
|
0.00011
|
NM_001037.5(SCN1B):c.448+40G>A
|
rs199685662
|
0.00011
|
NM_001040151.2(SCN3B):c.93G>A (p.Ser31=)
|
rs753258598
|
0.00011
|
NM_005477.3(HCN4):c.2522C>T (p.Ser841Leu)
|
rs200546024
|
0.00011
|
NM_005477.3(HCN4):c.2838C>T (p.Pro946=)
|
rs552881314
|
0.00011
|
NM_005477.3(HCN4):c.3117G>A (p.Pro1039=)
|
rs749785521
|
0.00011
|
NM_005477.3(HCN4):c.584C>T (p.Ala195Val)
|
rs201375192
|
0.00011
|
NM_006514.4(SCN10A):c.1277G>A (p.Arg426Gln)
|
rs143033805
|
0.00011
|
NM_006514.4(SCN10A):c.2202C>G (p.Cys734Trp)
|
rs910678839
|
0.00011
|
NM_006514.4(SCN10A):c.2266C>T (p.Arg756Trp)
|
rs374341474
|
0.00011
|
NM_006514.4(SCN10A):c.2814C>T (p.Phe938=)
|
rs200870389
|
0.00011
|
NM_006514.4(SCN10A):c.4980G>A (p.Ser1660=)
|
rs544529883
|
0.00011
|
NM_006514.4(SCN10A):c.599C>T (p.Ala200Val)
|
rs554062977
|
0.00011
|
NM_006514.4(SCN10A):c.694C>T (p.Leu232=)
|
rs200583405
|
0.00011
|
NM_015141.4(GPD1L):c.192A>G (p.Lys64=)
|
rs72546651
|
0.00011
|
NM_015141.4(GPD1L):c.839C>T (p.Ala280Val)
|
rs72552291
|
0.00011
|
NM_015141.4(GPD1L):c.959+11C>T
|
rs370985609
|
0.00011
|
NM_201596.3(CACNB2):c.1488+7G>A
|
rs770757228
|
0.00011
|
NM_201596.3(CACNB2):c.671-18T>C
|
rs551760338
|
0.00011
|
NM_000335.5(SCN5A):c.1597C>T (p.Arg533Cys)
|
rs775576991
|
0.00010
|
NM_000722.4(CACNA2D1):c.2727+12C>G
|
rs765175609
|
0.00010
|
NM_000722.4(CACNA2D1):c.590G>A (p.Arg197His)
|
rs375189396
|
0.00010
|
NM_001040151.2(SCN3B):c.105C>T (p.Ala35=)
|
rs368979661
|
0.00010
|
NM_001377540.1(SLMAP):c.346+6G>T
|
rs371736233
|
0.00010
|
NM_004982.4(KCNJ8):c.821G>A (p.Arg274His)
|
rs149127157
|
0.00010
|
NM_005472.5(KCNE3):c.158G>A (p.Arg53His)
|
rs565287436
|
0.00010
|
NM_005477.3(HCN4):c.3195C>A (p.Val1065=)
|
rs4493011
|
0.00010
|
NM_005477.3(HCN4):c.3353T>C (p.Leu1118Pro)
|
rs1165134160
|
0.00010
|
NM_006514.4(SCN10A):c.1535G>A (p.Arg512Gln)
|
rs200889952
|
0.00010
|
NM_006514.4(SCN10A):c.1661T>C (p.Leu554Pro)
|
rs138404783
|
0.00010
|
NM_006514.4(SCN10A):c.2374A>G (p.Ile792Val)
|
rs563110484
|
0.00010
|
NM_006514.4(SCN10A):c.2554G>A (p.Glu852Lys)
|
rs375274122
|
0.00010
|
NM_006514.4(SCN10A):c.2727C>A (p.Asn909Lys)
|
rs567269429
|
0.00010
|
NM_006514.4(SCN10A):c.3749G>A (p.Arg1250Gln)
|
rs774893568
|
0.00010
|
NM_006514.4(SCN10A):c.4396C>T (p.Gln1466Ter)
|
rs199931920
|
0.00010
|
NM_006514.4(SCN10A):c.4983C>T (p.Ala1661=)
|
rs775273379
|
0.00010
|
NM_006514.4(SCN10A):c.5205C>A (p.Pro1735=)
|
rs1008079839
|
0.00010
|
NM_006514.4(SCN10A):c.5548C>T (p.Gln1850Ter)
|
rs149504103
|
0.00010
|
NM_006514.4(SCN10A):c.857C>T (p.Thr286Ile)
|
rs147150438
|
0.00010
|
NM_012282.4(KCNE5):c.325C>T (p.Leu109=)
|
rs767463268
|
0.00010
|
NM_015141.4(GPD1L):c.876G>A (p.Glu292=)
|
rs72546642
|
0.00010
|
NM_201596.3(CACNB2):c.1140T>C (p.His380=)
|
rs151199943
|
0.00010
|
NM_201596.3(CACNB2):c.1489-8G>A
|
rs557859826
|
0.00010
|
NM_000722.4(CACNA2D1):c.1066A>G (p.Lys356Glu)
|
rs201682618
|
0.00009
|
NM_000722.4(CACNA2D1):c.1375G>C (p.Val459Leu)
|
rs765696205
|
0.00009
|
NM_000722.4(CACNA2D1):c.2059G>A (p.Ala687Thr)
|
rs751204853
|
0.00009
|
NM_000722.4(CACNA2D1):c.528A>C (p.Ser176=)
|
rs138577227
|
0.00009
|
NM_001037.5(SCN1B):c.448+189C>A
|
rs766373298
|
0.00009
|
NM_001037.5(SCN1B):c.457G>A (p.Asp153Asn)
|
rs72550247
|
0.00009
|
NM_001040151.2(SCN3B):c.413C>T (p.Thr138Met)
|
rs761964055
|
0.00009
|
NM_001377540.1(SLMAP):c.*57C>T
|
rs200994109
|
0.00009
|
NM_001377540.1(SLMAP):c.1002G>A (p.Lys334=)
|
rs139110404
|
0.00009
|
NM_001377540.1(SLMAP):c.191C>T (p.Thr64Met)
|
rs149291683
|
0.00009
|
NM_001377540.1(SLMAP):c.564G>A (p.Thr188=)
|
rs770331240
|
0.00009
|
NM_005477.3(HCN4):c.1437C>T (p.Ile479=)
|
rs202001597
|
0.00009
|
NM_005477.3(HCN4):c.1815G>A (p.Thr605=)
|
rs367753936
|
0.00009
|
NM_005477.3(HCN4):c.2496G>T (p.Leu832=)
|
rs139394937
|
0.00009
|
NM_005477.3(HCN4):c.2604C>T (p.Pro868=)
|
rs138773305
|
0.00009
|
NM_005477.3(HCN4):c.2978C>T (p.Thr993Met)
|
rs199798661
|
0.00009
|
NM_005477.3(HCN4):c.418G>A (p.Gly140Ser)
|
rs773857091
|
0.00009
|
NM_006514.4(SCN10A):c.1417G>C (p.Asp473His)
|
rs143920053
|
0.00009
|
NM_006514.4(SCN10A):c.2746C>T (p.Arg916Trp)
|
rs370208223
|
0.00009
|
NM_006514.4(SCN10A):c.3445G>A (p.Val1149Met)
|
rs560631745
|
0.00009
|
NM_006514.4(SCN10A):c.390-9G>A
|
rs370917734
|
0.00009
|
NM_006514.4(SCN10A):c.4139G>A (p.Arg1380Gln)
|
rs149155352
|
0.00009
|
NM_006514.4(SCN10A):c.4584C>T (p.Phe1528=)
|
rs141828577
|
0.00009
|
NM_006514.4(SCN10A):c.4639G>T (p.Val1547Leu)
|
rs377492327
|
0.00009
|
NM_006514.4(SCN10A):c.5370G>T (p.Leu1790=)
|
rs140566252
|
0.00009
|
NM_006514.4(SCN10A):c.5540G>A (p.Arg1847Gln)
|
rs148537653
|
0.00009
|
NM_006514.4(SCN10A):c.5628C>G (p.Thr1876=)
|
rs147660344
|
0.00009
|
NM_006514.4(SCN10A):c.692-4G>A
|
rs373083732
|
0.00009
|
NM_012282.4(KCNE5):c.262G>A (p.Val88Ile)
|
rs145491359
|
0.00009
|
NM_015141.4(GPD1L):c.555T>A (p.Thr185=)
|
rs151196281
|
0.00009
|
NM_015141.4(GPD1L):c.897C>T (p.Leu299=)
|
rs192905901
|
0.00009
|
NM_015141.4(GPD1L):c.906G>A (p.Pro302=)
|
rs200045526
|
0.00009
|
NM_201596.3(CACNB2):c.1719T>C (p.Asp573=)
|
rs781283574
|
0.00009
|
NM_201596.3(CACNB2):c.334-7A>T
|
rs779728445
|
0.00009
|
NM_201596.3(CACNB2):c.673A>G (p.Ile225Val)
|
rs140542975
|
0.00009
|
NM_000335.5(SCN5A):c.86C>T (p.Ala29Val)
|
rs562675882
|
0.00008
|
NM_000722.4(CACNA2D1):c.1887A>G (p.Lys629=)
|
rs143995526
|
0.00008
|
NM_000722.4(CACNA2D1):c.2333C>T (p.Ser778Leu)
|
rs202108848
|
0.00008
|
NM_000722.4(CACNA2D1):c.2727+9T>C
|
rs199542348
|
0.00008
|
NM_000722.4(CACNA2D1):c.2730A>T (p.Pro910=)
|
rs187849336
|
0.00008
|
NM_001037.5(SCN1B):c.96T>C (p.Tyr32=)
|
rs143453040
|
0.00008
|
NM_001040151.2(SCN3B):c.339C>T (p.Asn113=)
|
rs142613556
|
0.00008
|
NM_001040151.2(SCN3B):c.585-4A>G
|
rs745830643
|
0.00008
|
NM_001377540.1(SLMAP):c.2116C>T (p.Arg706Trp)
|
rs188700768
|
0.00008
|
NM_005477.3(HCN4):c.1087A>G (p.Ile363Val)
|
rs144168042
|
0.00008
|
NM_005477.3(HCN4):c.2669C>T (p.Pro890Leu)
|
rs758929649
|
0.00008
|
NM_005477.3(HCN4):c.2695G>A (p.Val899Ile)
|
rs370669201
|
0.00008
|
NM_005477.3(HCN4):c.3531G>T (p.Gly1177=)
|
rs375911378
|
0.00008
|
NM_005477.3(HCN4):c.466G>A (p.Gly156Ser)
|
rs924203370
|
0.00008
|
NM_005477.3(HCN4):c.481C>A (p.Pro161Thr)
|
rs1490522995
|
0.00008
|
NM_005477.3(HCN4):c.724C>T (p.Arg242Cys)
|
rs745880598
|
0.00008
|
NM_006514.4(SCN10A):c.1493G>A (p.Arg498Gln)
|
rs372716583
|
0.00008
|
NM_006514.4(SCN10A):c.1601G>A (p.Arg534Gln)
|
rs147246725
|
0.00008
|
NM_006514.4(SCN10A):c.3238G>A (p.Asp1080Asn)
|
rs376528831
|
0.00008
|
NM_006514.4(SCN10A):c.3675T>G (p.Ile1225Met)
|
rs371834340
|
0.00008
|
NM_006514.4(SCN10A):c.3692T>C (p.Ile1231Thr)
|
rs147130891
|
0.00008
|
NM_006514.4(SCN10A):c.3704C>T (p.Ala1235Val)
|
rs765984332
|
0.00008
|
NM_006514.4(SCN10A):c.3712C>G (p.Leu1238Val)
|
rs960602539
|
0.00008
|
NM_006514.4(SCN10A):c.411G>A (p.Thr137=)
|
rs139793167
|
0.00008
|
NM_006514.4(SCN10A):c.446G>A (p.Arg149Gln)
|
rs201706560
|
0.00008
|
NM_006514.4(SCN10A):c.715C>T (p.Leu239=)
|
rs369923291
|
0.00008
|
NM_006514.4(SCN10A):c.87T>C (p.Ala29=)
|
rs148392780
|
0.00008
|
NM_012282.4(KCNE5):c.298G>C (p.Glu100Gln)
|
rs775987548
|
0.00008
|
NM_012282.4(KCNE5):c.333C>T (p.Ala111=)
|
rs752061790
|
0.00008
|
NM_012282.4(KCNE5):c.334G>A (p.Asp112Asn)
|
rs764564753
|
0.00008
|
NM_015141.4(GPD1L):c.870G>T (p.Glu290Asp)
|
rs751812984
|
0.00008
|
NM_015141.4(GPD1L):c.951A>G (p.Leu317=)
|
rs746611202
|
0.00008
|
NM_201596.3(CACNB2):c.1640G>A (p.Arg547His)
|
rs377657305
|
0.00008
|
NM_000722.4(CACNA2D1):c.318A>G (p.Lys106=)
|
rs757313687
|
0.00007
|
NM_001037.5(SCN1B):c.449-3C>A
|
rs370937269
|
0.00007
|
NM_001377540.1(SLMAP):c.31C>T (p.Arg11Cys)
|
rs767298958
|
0.00007
|
NM_001377540.1(SLMAP):c.561C>G (p.Ala187=)
|
rs762494292
|
0.00007
|
NM_004982.4(KCNJ8):c.138G>T (p.Ala46=)
|
rs568067955
|
0.00007
|
NM_004982.4(KCNJ8):c.144G>A (p.Lys48=)
|
rs368274950
|
0.00007
|
NM_005472.5(KCNE3):c.296G>A (p.Arg99His)
|
rs121908441
|
0.00007
|
NM_005477.3(HCN4):c.1243G>A (p.Val415Met)
|
rs201978086
|
0.00007
|
NM_005477.3(HCN4):c.3009G>A (p.Pro1003=)
|
rs775401682
|
0.00007
|
NM_005477.3(HCN4):c.3351G>A (p.Pro1117=)
|
rs375138488
|
0.00007
|
NM_005477.3(HCN4):c.3397G>C (p.Gly1133Arg)
|
rs532186403
|
0.00007
|
NM_005477.3(HCN4):c.520C>T (p.Pro174Ser)
|
rs542532555
|
0.00007
|
NM_005477.3(HCN4):c.990G>A (p.Pro330=)
|
rs146954200
|
0.00007
|
NM_006514.4(SCN10A):c.1949T>A (p.Met650Lys)
|
rs201698323
|
0.00007
|
NM_006514.4(SCN10A):c.2105T>G (p.Ile702Ser)
|
rs147482520
|
0.00007
|
NM_006514.4(SCN10A):c.3340T>C (p.Cys1114Arg)
|
rs771127702
|
0.00007
|
NM_006514.4(SCN10A):c.3681+20C>G
|
rs373294325
|
0.00007
|
NM_006514.4(SCN10A):c.39C>T (p.Phe13=)
|
rs181048561
|
0.00007
|
NM_006514.4(SCN10A):c.4063A>G (p.Met1355Val)
|
rs375458594
|
0.00007
|
NM_006514.4(SCN10A):c.4657+5G>A
|
rs373642730
|
0.00007
|
NM_006514.4(SCN10A):c.4831G>A (p.Gly1611Arg)
|
rs777980971
|
0.00007
|
NM_006514.4(SCN10A):c.4956G>A (p.Leu1652=)
|
rs148256707
|
0.00007
|
NM_201596.3(CACNB2):c.1025T>C (p.Ile342Thr)
|
rs778426010
|
0.00007
|
NM_201596.3(CACNB2):c.966C>T (p.Thr322=)
|
rs199847834
|
0.00007
|
NM_000335.5(SCN5A):c.955G>A (p.Gly319Ser)
|
rs199473090
|
0.00006
|
NM_000722.4(CACNA2D1):c.1086G>A (p.Thr362=)
|
rs148592476
|
0.00006
|
NM_000722.4(CACNA2D1):c.1441-6T>C
|
rs532460440
|
0.00006
|
NM_000722.4(CACNA2D1):c.1608G>A (p.Glu536=)
|
rs369435463
|
0.00006
|
NM_000722.4(CACNA2D1):c.1662+3G>A
|
rs375174760
|
0.00006
|
NM_000722.4(CACNA2D1):c.1899G>A (p.Ser633=)
|
rs763839433
|
0.00006
|
NM_000722.4(CACNA2D1):c.2334G>A (p.Ser778=)
|
rs368512946
|
0.00006
|
NM_000722.4(CACNA2D1):c.2575-9C>G
|
rs183290212
|
0.00006
|
NM_000722.4(CACNA2D1):c.3218T>C (p.Ile1073Thr)
|
rs146250893
|
0.00006
|
NM_000722.4(CACNA2D1):c.396+16T>G
|
rs761439392
|
0.00006
|
NM_001037.5(SCN1B):c.415G>A (p.Val139Ile)
|
rs560827790
|
0.00006
|
NM_001037.5(SCN1B):c.448+144A>G
|
rs763402433
|
0.00006
|
NM_001037.5(SCN1B):c.448+225C>T
|
rs369588692
|
0.00006
|
NM_001037.5(SCN1B):c.448+334G>A
|
rs766204907
|
0.00006
|
NM_001037.5(SCN1B):c.448+8G>C
|
rs200222933
|
0.00006
|
NM_001037.5(SCN1B):c.566C>T (p.Thr189Met)
|
rs2305748
|
0.00006
|
NM_001040151.2(SCN3B):c.174G>A (p.Thr58=)
|
rs201049075
|
0.00006
|
NM_001377540.1(SLMAP):c.1284A>G (p.Gln428=)
|
rs1465764372
|
0.00006
|
NM_001377540.1(SLMAP):c.1866A>G (p.Leu622=)
|
rs776037743
|
0.00006
|
NM_001377540.1(SLMAP):c.1904G>A (p.Arg635Gln)
|
rs139032332
|
0.00006
|
NM_001377540.1(SLMAP):c.297C>T (p.Ser99=)
|
rs190769315
|
0.00006
|
NM_004982.4(KCNJ8):c.600C>T (p.Ala200=)
|
rs755870233
|
0.00006
|
NM_005472.5(KCNE3):c.120C>G (p.Asp40Glu)
|
rs141880803
|
0.00006
|
NM_005472.5(KCNE3):c.228C>T (p.Ile76=)
|
rs17221826
|
0.00006
|
NM_005477.3(HCN4):c.1303C>T (p.Leu435=)
|
rs746461789
|
0.00006
|
NM_005477.3(HCN4):c.1512C>T (p.Thr504=)
|
rs754956009
|
0.00006
|
NM_005477.3(HCN4):c.1636G>A (p.Asp546Asn)
|
rs370884239
|
0.00006
|
NM_005477.3(HCN4):c.1674C>A (p.Arg558=)
|
rs201337528
|
0.00006
|
NM_005477.3(HCN4):c.1729C>T (p.Leu577=)
|
rs1057523463
|
0.00006
|
NM_005477.3(HCN4):c.2115C>T (p.Thr705=)
|
rs201652877
|
0.00006
|
NM_005477.3(HCN4):c.258G>A (p.Lys86=)
|
rs1019029244
|
0.00006
|
NM_005477.3(HCN4):c.2605G>A (p.Ala869Thr)
|
rs775134377
|
0.00006
|
NM_005477.3(HCN4):c.2634C>G (p.Ser878=)
|
rs748478312
|
0.00006
|
NM_005477.3(HCN4):c.2652C>T (p.Pro884=)
|
rs373814254
|
0.00006
|
NM_005477.3(HCN4):c.2846G>A (p.Arg949Gln)
|
rs752139441
|
0.00006
|
NM_005477.3(HCN4):c.2917G>A (p.Gly973Arg)
|
rs200495478
|
0.00006
|
NM_005477.3(HCN4):c.3461G>A (p.Arg1154Gln)
|
rs145862018
|
0.00006
|
NM_005477.3(HCN4):c.434C>T (p.Pro145Leu)
|
rs768272301
|
0.00006
|
NM_005477.3(HCN4):c.537C>T (p.Cys179=)
|
rs753829397
|
0.00006
|
NM_005477.3(HCN4):c.597G>T (p.Gln199His)
|
rs768734319
|
0.00006
|
NM_005477.3(HCN4):c.995G>A (p.Arg332Gln)
|
rs368164073
|
0.00006
|
NM_006514.4(SCN10A):c.1754C>T (p.Ser585Leu)
|
rs781705809
|
0.00006
|
NM_006514.4(SCN10A):c.1914G>A (p.Leu638=)
|
rs774983974
|
0.00006
|
NM_006514.4(SCN10A):c.2703G>A (p.Pro901=)
|
rs142531478
|
0.00006
|
NM_006514.4(SCN10A):c.2973G>A (p.Pro991=)
|
rs201397469
|
0.00006
|
NM_006514.4(SCN10A):c.2988T>C (p.Ser996=)
|
rs375913659
|
0.00006
|
NM_006514.4(SCN10A):c.3010T>G (p.Ser1004Ala)
|
rs186031413
|
0.00006
|
NM_006514.4(SCN10A):c.3425G>A (p.Arg1142His)
|
rs200584416
|
0.00006
|
NM_006514.4(SCN10A):c.3439C>T (p.Arg1147Cys)
|
rs373470651
|
0.00006
|
NM_006514.4(SCN10A):c.3705G>A (p.Ala1235=)
|
rs147376215
|
0.00006
|
NM_006514.4(SCN10A):c.3759C>T (p.Arg1253=)
|
rs749134108
|
0.00006
|
NM_006514.4(SCN10A):c.4089+1G>C
|
rs778498254
|
0.00006
|
NM_006514.4(SCN10A):c.4208T>C (p.Ile1403Thr)
|
rs140825889
|
0.00006
|
NM_006514.4(SCN10A):c.4212T>C (p.Phe1404=)
|
rs370960686
|
0.00006
|
NM_006514.4(SCN10A):c.4282-16G>C
|
rs376080236
|
0.00006
|
NM_006514.4(SCN10A):c.4514C>T (p.Thr1505Met)
|
rs184521520
|
0.00006
|
NM_006514.4(SCN10A):c.4515G>A (p.Thr1505=)
|
rs191624001
|
0.00006
|
NM_006514.4(SCN10A):c.4660C>T (p.Leu1554=)
|
rs745999522
|
0.00006
|
NM_006514.4(SCN10A):c.5436A>G (p.Leu1812=)
|
rs201753955
|
0.00006
|
NM_006514.4(SCN10A):c.549G>A (p.Thr183=)
|
rs141703064
|
0.00006
|
NM_006514.4(SCN10A):c.609C>A (p.Gly203=)
|
rs532353167
|
0.00006
|
NM_006514.4(SCN10A):c.951-7G>C
|
rs773898368
|
0.00006
|
NM_012282.4(KCNE5):c.277G>T (p.Glu93Ter)
|
rs61729624
|
0.00006
|
NM_012282.4(KCNE5):c.42C>T (p.Ser14=)
|
rs763118222
|
0.00006
|
NM_015141.4(GPD1L):c.1004G>A (p.Arg335Lys)
|
rs369439723
|
0.00006
|
NM_015141.4(GPD1L):c.261T>A (p.Asp87Glu)
|
rs368838349
|
0.00006
|
NM_015141.4(GPD1L):c.651C>T (p.Asp217=)
|
rs149641866
|
0.00006
|
NM_015141.4(GPD1L):c.658C>T (p.Arg220Cys)
|
rs72546647
|
0.00006
|
NM_015141.4(GPD1L):c.996C>T (p.Tyr332=)
|
rs149423659
|
0.00006
|
NM_201596.3(CACNB2):c.1018G>A (p.Ala340Thr)
|
rs140614930
|
0.00006
|
NM_201596.3(CACNB2):c.1076A>G (p.Glu359Gly)
|
rs148674271
|
0.00006
|
NM_201596.3(CACNB2):c.1178T>C (p.Ile393Thr)
|
rs139749312
|
0.00006
|
NM_201596.3(CACNB2):c.1180G>A (p.Val394Ile)
|
rs149793143
|
0.00006
|
NM_201596.3(CACNB2):c.1303-4G>A
|
rs765944934
|
0.00006
|
NM_201596.3(CACNB2):c.1443C>T (p.Ala481=)
|
rs780182558
|
0.00006
|
NM_201596.3(CACNB2):c.1681G>A (p.Glu561Lys)
|
rs199714857
|
0.00006
|
NM_201596.3(CACNB2):c.1708C>G (p.Pro570Ala)
|
rs151274272
|
0.00006
|
NM_201596.3(CACNB2):c.1822C>T (p.Arg608Cys)
|
rs994878062
|
0.00006
|
NM_201596.3(CACNB2):c.334-8C>T
|
rs374465425
|
0.00006
|
NM_000335.5(SCN5A):c.3437C>A (p.Thr1146Asn)
|
rs759374610
|
0.00005
|
NM_000722.4(CACNA2D1):c.1038+9C>T
|
rs367553287
|
0.00005
|
NM_000722.4(CACNA2D1):c.1740T>C (p.Tyr580=)
|
rs761279886
|
0.00005
|
NM_000722.4(CACNA2D1):c.2016C>T (p.Asn672=)
|
rs558175396
|
0.00005
|
NM_000722.4(CACNA2D1):c.2791C>G (p.Gln931Glu)
|
rs145110338
|
0.00005
|
NM_000722.4(CACNA2D1):c.2861C>T (p.Thr954Met)
|
rs111888027
|
0.00005
|
NM_000722.4(CACNA2D1):c.2914G>A (p.Asp972Asn)
|
rs776720930
|
0.00005
|
NM_000722.4(CACNA2D1):c.2967-15A>G
|
rs750119271
|
0.00005
|
NM_001037.5(SCN1B):c.448+111C>T
|
rs758654948
|
0.00005
|
NM_001037.5(SCN1B):c.448+140G>A
|
rs775648401
|
0.00005
|
NM_001037.5(SCN1B):c.561C>T (p.Ala187=)
|
rs587781152
|
0.00005
|
NM_001040151.2(SCN3B):c.570A>G (p.Ala190=)
|
rs575419664
|
0.00005
|
NM_001377540.1(SLMAP):c.2402A>G (p.Gln801Arg)
|
rs142778041
|
0.00005
|
NM_001377540.1(SLMAP):c.93C>T (p.Gly31=)
|
rs144914455
|
0.00005
|
NM_004982.4(KCNJ8):c.870G>A (p.Leu290=)
|
rs549973587
|
0.00005
|
NM_005472.5(KCNE3):c.241C>T (p.Arg81Cys)
|
rs542842233
|
0.00005
|
NM_005477.3(HCN4):c.1242C>T (p.Ala414=)
|
rs376218786
|
0.00005
|
NM_005477.3(HCN4):c.1254C>T (p.Ile418=)
|
rs373794941
|
0.00005
|
NM_005477.3(HCN4):c.1924G>A (p.Val642Met)
|
rs779402752
|
0.00005
|
NM_005477.3(HCN4):c.2283T>G (p.Ala761=)
|
rs1009352503
|
0.00005
|
NM_005477.3(HCN4):c.2458G>A (p.Gly820Arg)
|
rs761337460
|
0.00005
|
NM_005477.3(HCN4):c.2537C>T (p.Pro846Leu)
|
rs747467877
|
0.00005
|
NM_005477.3(HCN4):c.2864C>T (p.Pro955Leu)
|
rs371562763
|
0.00005
|
NM_005477.3(HCN4):c.2997G>A (p.Arg999=)
|
rs749040050
|
0.00005
|
NM_005477.3(HCN4):c.3101C>G (p.Pro1034Arg)
|
rs928266429
|
0.00005
|
NM_005477.3(HCN4):c.3134C>T (p.Ala1045Val)
|
rs980750316
|
0.00005
|
NM_005477.3(HCN4):c.3305G>A (p.Arg1102His)
|
rs548130184
|
0.00005
|
NM_005477.3(HCN4):c.3460C>T (p.Arg1154Trp)
|
rs200896834
|
0.00005
|
NM_005477.3(HCN4):c.549G>T (p.Ser183=)
|
rs767095274
|
0.00005
|
NM_005477.3(HCN4):c.592G>A (p.Asp198Asn)
|
rs1168642170
|
0.00005
|
NM_006514.4(SCN10A):c.1089G>A (p.Gln363=)
|
rs761730085
|
0.00005
|
NM_006514.4(SCN10A):c.1093-7C>A
|
rs374658847
|
0.00005
|
NM_006514.4(SCN10A):c.1233T>A (p.Ile411=)
|
rs144482572
|
0.00005
|
NM_006514.4(SCN10A):c.1267G>A (p.Glu423Lys)
|
rs748821446
|
0.00005
|
NM_006514.4(SCN10A):c.1492C>T (p.Arg498Trp)
|
rs377467259
|
0.00005
|
NM_006514.4(SCN10A):c.14T>C (p.Ile5Thr)
|
rs557317287
|
0.00005
|
NM_006514.4(SCN10A):c.1604G>T (p.Gly535Val)
|
rs556526024
|
0.00005
|
NM_006514.4(SCN10A):c.1668A>T (p.Gln556His)
|
rs770276976
|
0.00005
|
NM_006514.4(SCN10A):c.1890G>A (p.Lys630=)
|
rs764191883
|
0.00005
|
NM_006514.4(SCN10A):c.2341G>A (p.Gly781Arg)
|
rs148851890
|
0.00005
|
NM_006514.4(SCN10A):c.2465C>T (p.Ala822Val)
|
rs747839312
|
0.00005
|
NM_006514.4(SCN10A):c.2936G>T (p.Gly979Val)
|
rs559166014
|
0.00005
|
NM_006514.4(SCN10A):c.3556C>A (p.Leu1186Met)
|
rs192493052
|
0.00005
|
NM_006514.4(SCN10A):c.3585T>C (p.Phe1195=)
|
rs368972137
|
0.00005
|
NM_006514.4(SCN10A):c.3804+6del
|
rs549795936
|
0.00005
|
NM_006514.4(SCN10A):c.3838T>A (p.Ser1280Thr)
|
rs200324539
|
0.00005
|
NM_006514.4(SCN10A):c.3909C>T (p.Phe1303=)
|
rs928284057
|
0.00005
|
NM_006514.4(SCN10A):c.4655C>T (p.Ala1552Val)
|
rs756133876
|
0.00005
|
NM_006514.4(SCN10A):c.4777A>T (p.Ile1593Phe)
|
rs762600386
|
0.00005
|
NM_006514.4(SCN10A):c.5144A>C (p.Asn1715Thr)
|
rs777258179
|
0.00005
|
NM_006514.4(SCN10A):c.5445C>T (p.Ser1815=)
|
rs111535651
|
0.00005
|
NM_201596.3(CACNB2):c.1017C>T (p.His339=)
|
rs747015946
|
0.00005
|
NM_201596.3(CACNB2):c.1092T>C (p.Leu364=)
|
rs377767054
|
0.00005
|
NM_201596.3(CACNB2):c.1206+3A>T
|
rs200174877
|
0.00005
|
NM_201596.3(CACNB2):c.1302+19C>T
|
rs1255438545
|
0.00005
|
NM_201596.3(CACNB2):c.1539T>C (p.Ala513=)
|
rs191856144
|
0.00005
|
NM_201596.3(CACNB2):c.978G>A (p.Ser326=)
|
rs753506761
|
0.00005
|
NM_000722.4(CACNA2D1):c.1141A>G (p.Lys381Glu)
|
rs756707031
|
0.00004
|
NM_000722.4(CACNA2D1):c.1158G>A (p.Thr386=)
|
rs753918568
|
0.00004
|
NM_000722.4(CACNA2D1):c.1178A>G (p.Asn393Ser)
|
rs149828018
|
0.00004
|
NM_000722.4(CACNA2D1):c.1223-17A>T
|
rs1043041322
|
0.00004
|
NM_000722.4(CACNA2D1):c.1441-12C>G
|
rs559623642
|
0.00004
|
NM_000722.4(CACNA2D1):c.1736G>A (p.Arg579Lys)
|
rs1021370066
|
0.00004
|
NM_000722.4(CACNA2D1):c.177+11T>A
|
rs376032102
|
0.00004
|
NM_000722.4(CACNA2D1):c.1796+8A>G
|
rs200882576
|
0.00004
|
NM_000722.4(CACNA2D1):c.2054-20A>G
|
rs751143429
|
0.00004
|
NM_000722.4(CACNA2D1):c.2142C>T (p.Ile714=)
|
rs745501384
|
0.00004
|
NM_000722.4(CACNA2D1):c.2151G>A (p.Val717=)
|
rs150414062
|
0.00004
|
NM_000722.4(CACNA2D1):c.2324C>A (p.Ala775Asp)
|
rs768768419
|
0.00004
|
NM_000722.4(CACNA2D1):c.2717C>T (p.Ser906Leu)
|
rs1015793463
|
0.00004
|
NM_000722.4(CACNA2D1):c.3060A>G (p.Ile1020Met)
|
rs748581194
|
0.00004
|
NM_000722.4(CACNA2D1):c.3066G>A (p.Ala1022=)
|
rs780560452
|
0.00004
|
NM_000722.4(CACNA2D1):c.741A>T (p.Gly247=)
|
rs372164615
|
0.00004
|
NM_000722.4(CACNA2D1):c.818G>A (p.Arg273Gln)
|
rs373911809
|
0.00004
|
NM_001037.5(SCN1B):c.121A>G (p.Ile41Val)
|
rs72552028
|
0.00004
|
NM_001037.5(SCN1B):c.208-14C>T
|
rs72550272
|
0.00004
|
NM_001037.5(SCN1B):c.222G>A (p.Glu74=)
|
rs775682394
|
0.00004
|
NM_001037.5(SCN1B):c.258C>T (p.Phe86=)
|
rs751009774
|
0.00004
|
NM_001037.5(SCN1B):c.265C>T (p.Arg89Cys)
|
rs766910280
|
0.00004
|
NM_001037.5(SCN1B):c.268G>A (p.Val90Met)
|
rs778461222
|
0.00004
|
NM_001037.5(SCN1B):c.448+299A>G
|
rs1027861663
|
0.00004
|
NM_001037.5(SCN1B):c.448+333C>T
|
rs946024438
|
0.00004
|
NM_001037.5(SCN1B):c.448+48A>C
|
rs757515975
|
0.00004
|
NM_001040151.2(SCN3B):c.106G>A (p.Val36Met)
|
rs147803210
|
0.00004
|
NM_001040151.2(SCN3B):c.160G>A (p.Val54Met)
|
rs377237114
|
0.00004
|
NM_001040151.2(SCN3B):c.161T>G (p.Val54Gly)
|
rs587777555
|
0.00004
|
NM_001040151.2(SCN3B):c.199G>A (p.Glu67Lys)
|
rs140381249
|
0.00004
|
NM_001040151.2(SCN3B):c.416G>A (p.Arg139Gln)
|
rs770801747
|
0.00004
|
NM_001040151.2(SCN3B):c.537T>C (p.Tyr179=)
|
rs747776064
|
0.00004
|
NM_001040151.2(SCN3B):c.73G>T (p.Val25Leu)
|
rs746954414
|
0.00004
|
NM_001040151.2(SCN3B):c.98C>T (p.Thr33Met)
|
rs140041927
|
0.00004
|
NM_001040151.2(SCN3B):c.99G>A (p.Thr33=)
|
rs754476318
|
0.00004
|
NM_001377540.1(SLMAP):c.1289T>C (p.Ile430Thr)
|
rs375841302
|
0.00004
|
NM_001377540.1(SLMAP):c.1314C>T (p.Val438=)
|
rs139832644
|
0.00004
|
NM_001377540.1(SLMAP):c.1335G>A (p.Ala445=)
|
rs148417939
|
0.00004
|
NM_001377540.1(SLMAP):c.1502-13A>G
|
rs746651571
|
0.00004
|
NM_001377540.1(SLMAP):c.1516G>T (p.Ala506Ser)
|
rs76544609
|
0.00004
|
NM_001377540.1(SLMAP):c.198+5T>C
|
rs759043349
|
0.00004
|
NM_001377540.1(SLMAP):c.2115A>G (p.Gln705=)
|
rs769584378
|
0.00004
|
NM_001377540.1(SLMAP):c.2224T>C (p.Leu742=)
|
rs759832384
|
0.00004
|
NM_001377540.1(SLMAP):c.2431G>C (p.Glu811Gln)
|
rs751083292
|
0.00004
|
NM_001377540.1(SLMAP):c.324C>T (p.Asp108=)
|
rs541100817
|
0.00004
|
NM_001377540.1(SLMAP):c.408G>T (p.Arg136=)
|
rs145924069
|
0.00004
|
NM_001377540.1(SLMAP):c.722T>C (p.Ile241Thr)
|
rs772627783
|
0.00004
|
NM_001377540.1(SLMAP):c.786T>C (p.Leu262=)
|
rs199899255
|
0.00004
|
NM_001377540.1(SLMAP):c.829-4G>A
|
rs781322130
|
0.00004
|
NM_001377540.1(SLMAP):c.830G>A (p.Arg277Gln)
|
rs756718350
|
0.00004
|
NM_001377540.1(SLMAP):c.855A>G (p.Glu285=)
|
rs768994305
|
0.00004
|
NM_004982.4(KCNJ8):c.303C>T (p.Ile101=)
|
rs758633200
|
0.00004
|
NM_004982.4(KCNJ8):c.807C>T (p.His269=)
|
rs745683723
|
0.00004
|
NM_005472.5(KCNE3):c.2T>C (p.Met1Thr)
|
rs765329541
|
0.00004
|
NM_005477.3(HCN4):c.1191T>C (p.Tyr397=)
|
rs142643511
|
0.00004
|
NM_005477.3(HCN4):c.1341C>T (p.Asp447=)
|
rs1249092516
|
0.00004
|
NM_005477.3(HCN4):c.1455G>A (p.Ala485=)
|
rs148875639
|
0.00004
|
NM_005477.3(HCN4):c.1458C>T (p.Pro486=)
|
rs760102595
|
0.00004
|
NM_005477.3(HCN4):c.1482C>T (p.Leu494=)
|
rs1041707015
|
0.00004
|
NM_005477.3(HCN4):c.1591-17C>A
|
rs767836081
|
0.00004
|
NM_005477.3(HCN4):c.1719A>C (p.Leu573=)
|
rs917371741
|
0.00004
|
NM_005477.3(HCN4):c.1722C>T (p.Ser574=)
|
rs750941501
|
0.00004
|
NM_005477.3(HCN4):c.194C>T (p.Thr65Met)
|
rs760387977
|
0.00004
|
NM_005477.3(HCN4):c.2069A>G (p.Asn690Ser)
|
rs776033369
|
0.00004
|
NM_005477.3(HCN4):c.2196C>T (p.Gly732=)
|
rs780923169
|
0.00004
|
NM_005477.3(HCN4):c.2197G>A (p.Val733Ile)
|
rs376631391
|
0.00004
|
NM_005477.3(HCN4):c.2266G>A (p.Ala756Thr)
|
rs143339036
|
0.00004
|
NM_005477.3(HCN4):c.2383C>T (p.Leu795Phe)
|
rs1435000428
|
0.00004
|
NM_005477.3(HCN4):c.2398C>T (p.Arg800Cys)
|
rs181894662
|
0.00004
|
NM_005477.3(HCN4):c.2466G>A (p.Thr822=)
|
rs746387938
|
0.00004
|
NM_005477.3(HCN4):c.2672C>T (p.Ser891Leu)
|
rs768190354
|
0.00004
|
NM_005477.3(HCN4):c.2715C>T (p.Ala905=)
|
rs745886315
|
0.00004
|
NM_005477.3(HCN4):c.2733C>T (p.His911=)
|
rs565795330
|
0.00004
|
NM_005477.3(HCN4):c.2797G>A (p.Ala933Thr)
|
rs762464413
|
0.00004
|
NM_005477.3(HCN4):c.2832G>A (p.Ala944=)
|
rs747946171
|
0.00004
|
NM_005477.3(HCN4):c.2845C>T (p.Arg949Trp)
|
rs755614529
|
0.00004
|
NM_005477.3(HCN4):c.2903C>T (p.Pro968Leu)
|
rs548194804
|
0.00004
|
NM_005477.3(HCN4):c.2938G>A (p.Gly980Arg)
|
rs780719805
|
0.00004
|
NM_005477.3(HCN4):c.2995C>T (p.Arg999Trp)
|
rs538668505
|
0.00004
|
NM_005477.3(HCN4):c.3078C>T (p.Ser1026=)
|
rs202188345
|
0.00004
|
NM_005477.3(HCN4):c.3147C>T (p.His1049=)
|
rs757396406
|
0.00004
|
NM_005477.3(HCN4):c.3202C>T (p.Arg1068Cys)
|
rs759356193
|
0.00004
|
NM_005477.3(HCN4):c.3209G>A (p.Gly1070Asp)
|
rs772839442
|
0.00004
|
NM_005477.3(HCN4):c.3262G>A (p.Ala1088Thr)
|
rs1050326641
|
0.00004
|
NM_005477.3(HCN4):c.3263C>T (p.Ala1088Val)
|
rs758484576
|
0.00004
|
NM_005477.3(HCN4):c.3396C>T (p.Ser1132=)
|
rs369224427
|
0.00004
|
NM_005477.3(HCN4):c.3409C>T (p.Pro1137Ser)
|
rs773914774
|
0.00004
|
NM_005477.3(HCN4):c.3414del (p.Arg1140fs)
|
rs746402732
|
0.00004
|
NM_005477.3(HCN4):c.3582A>G (p.Pro1194=)
|
rs375637572
|
0.00004
|
NM_005477.3(HCN4):c.3586C>T (p.Arg1196Cys)
|
rs780977563
|
0.00004
|
NM_005477.3(HCN4):c.3596T>A (p.Leu1199Gln)
|
rs146751122
|
0.00004
|
NM_005477.3(HCN4):c.394A>C (p.Ile132Leu)
|
rs772764704
|
0.00004
|
NM_005477.3(HCN4):c.497C>T (p.Pro166Leu)
|
rs771442346
|
0.00004
|
NM_005477.3(HCN4):c.545C>T (p.Pro182Leu)
|
rs755904697
|
0.00004
|
NM_005477.3(HCN4):c.559G>A (p.Ala187Thr)
|
rs761571946
|
0.00004
|
NM_006514.4(SCN10A):c.1051C>T (p.Arg351Cys)
|
rs370603046
|
0.00004
|
NM_006514.4(SCN10A):c.1093-16T>C
|
rs776529322
|
0.00004
|
NM_006514.4(SCN10A):c.1093-3C>A
|
rs373289770
|
0.00004
|
NM_006514.4(SCN10A):c.1110G>T (p.Gly370=)
|
rs267599808
|
0.00004
|
NM_006514.4(SCN10A):c.1319C>T (p.Thr440Ile)
|
rs1018712886
|
0.00004
|
NM_006514.4(SCN10A):c.1432C>T (p.Arg478Cys)
|
rs770389041
|
0.00004
|
NM_006514.4(SCN10A):c.1590C>T (p.His530=)
|
rs770543896
|
0.00004
|
NM_006514.4(SCN10A):c.1644C>T (p.Pro548=)
|
rs753205934
|
0.00004
|
NM_006514.4(SCN10A):c.1747G>A (p.Asp583Asn)
|
rs910976049
|
0.00004
|
NM_006514.4(SCN10A):c.1762G>A (p.Asp588Asn)
|
rs747486328
|
0.00004
|
NM_006514.4(SCN10A):c.1764T>C (p.Asp588=)
|
rs779551067
|
0.00004
|
NM_006514.4(SCN10A):c.1872C>T (p.Leu624=)
|
rs375858081
|
0.00004
|
NM_006514.4(SCN10A):c.195G>A (p.Lys65=)
|
rs138298994
|
0.00004
|
NM_006514.4(SCN10A):c.2156T>C (p.Phe719Ser)
|
rs758843257
|
0.00004
|
NM_006514.4(SCN10A):c.2170T>G (p.Tyr724Asp)
|
rs138751097
|
0.00004
|
NM_006514.4(SCN10A):c.2285G>A (p.Arg762His)
|
rs778131235
|
0.00004
|
NM_006514.4(SCN10A):c.2414G>T (p.Gly805Val)
|
rs779733116
|
0.00004
|
NM_006514.4(SCN10A):c.2450G>A (p.Arg817Gln)
|
rs201068959
|
0.00004
|
NM_006514.4(SCN10A):c.2530C>T (p.Arg844Cys)
|
rs140158387
|
0.00004
|
NM_006514.4(SCN10A):c.2617G>A (p.Val873Met)
|
rs764470746
|
0.00004
|
NM_006514.4(SCN10A):c.2641-12C>T
|
rs771946379
|
0.00004
|
NM_006514.4(SCN10A):c.299C>A (p.Thr100Asn)
|
rs758035498
|
0.00004
|
NM_006514.4(SCN10A):c.3156A>G (p.Thr1052=)
|
rs777642089
|
0.00004
|
NM_006514.4(SCN10A):c.3178T>G (p.Ser1060Ala)
|
rs750655728
|
0.00004
|
NM_006514.4(SCN10A):c.3234G>A (p.Val1078=)
|
rs889915256
|
0.00004
|
NM_006514.4(SCN10A):c.3354A>G (p.Gly1118=)
|
rs770004970
|
0.00004
|
NM_006514.4(SCN10A):c.349A>C (p.Asn117His)
|
rs774462243
|
0.00004
|
NM_006514.4(SCN10A):c.3681+9C>T
|
rs201158753
|
0.00004
|
NM_006514.4(SCN10A):c.372C>T (p.Ile124=)
|
rs575521978
|
0.00004
|
NM_006514.4(SCN10A):c.3778G>T (p.Ala1260Ser)
|
rs779316495
|
0.00004
|
NM_006514.4(SCN10A):c.4069T>A (p.Tyr1357Asn)
|
rs199703203
|
0.00004
|
NM_006514.4(SCN10A):c.4444A>G (p.Ile1482Val)
|
rs771215180
|
0.00004
|
NM_006514.4(SCN10A):c.4585G>A (p.Ala1529Thr)
|
rs757916036
|
0.00004
|
NM_006514.4(SCN10A):c.4709C>T (p.Thr1570Met)
|
rs772484960
|
0.00004
|
NM_006514.4(SCN10A):c.4726C>T (p.Arg1576Cys)
|
rs764476034
|
0.00004
|
NM_006514.4(SCN10A):c.4736G>A (p.Arg1579Gln)
|
rs781118074
|
0.00004
|
NM_006514.4(SCN10A):c.4780C>T (p.Arg1594Cys)
|
rs373347787
|
0.00004
|
NM_006514.4(SCN10A):c.4875T>A (p.Gly1625=)
|
rs891056578
|
0.00004
|
NM_006514.4(SCN10A):c.4917C>T (p.Asp1639=)
|
rs142804903
|
0.00004
|
NM_006514.4(SCN10A):c.5294C>T (p.Ser1765Leu)
|
rs369137515
|
0.00004
|
NM_006514.4(SCN10A):c.539A>G (p.Asn180Ser)
|
rs371221408
|
0.00004
|
NM_006514.4(SCN10A):c.5523A>G (p.Pro1841=)
|
rs147245558
|
0.00004
|
NM_006514.4(SCN10A):c.5539C>T (p.Arg1847Ter)
|
rs199503439
|
0.00004
|
NM_006514.4(SCN10A):c.5756C>T (p.Pro1919Leu)
|
rs1047449169
|
0.00004
|
NM_006514.4(SCN10A):c.5764G>A (p.Glu1922Lys)
|
rs376810032
|
0.00004
|
NM_006514.4(SCN10A):c.626G>A (p.Arg209His)
|
rs779184623
|
0.00004
|
NM_006514.4(SCN10A):c.688C>G (p.Pro230Ala)
|
rs147844607
|
0.00004
|
NM_006514.4(SCN10A):c.996G>A (p.Pro332=)
|
rs781273186
|
0.00004
|
NM_012282.4(KCNE5):c.123C>T (p.Val41=)
|
rs919650074
|
0.00004
|
NM_015141.4(GPD1L):c.246C>T (p.Ser82=)
|
rs377378878
|
0.00004
|
NM_015141.4(GPD1L):c.817C>T (p.Arg273Cys)
|
rs72552294
|
0.00004
|
NM_201596.3(CACNB2):c.1168G>A (p.Ala390Thr)
|
rs370564617
|
0.00004
|
NM_201596.3(CACNB2):c.1433G>A (p.Arg478His)
|
rs781646326
|
0.00004
|
NM_201596.3(CACNB2):c.1516C>T (p.Arg506Cys)
|
rs111250176
|
0.00004
|
NM_201596.3(CACNB2):c.1517G>A (p.Arg506His)
|
rs532262049
|
0.00004
|
NM_201596.3(CACNB2):c.1532G>A (p.Arg511His)
|
rs1039406883
|
0.00004
|
NM_201596.3(CACNB2):c.1642G>A (p.Gly548Ser)
|
rs730880059
|
0.00004
|
NM_201596.3(CACNB2):c.1671G>A (p.Ser557=)
|
rs2228646
|
0.00004
|
NM_201596.3(CACNB2):c.1687C>G (p.Arg563Gly)
|
rs760811952
|
0.00004
|
NM_201596.3(CACNB2):c.1735G>A (p.Val579Met)
|
rs544535665
|
0.00004
|
NM_201596.3(CACNB2):c.1736T>G (p.Val579Gly)
|
rs370475450
|
0.00004
|
NM_201596.3(CACNB2):c.1739A>G (p.Asp580Gly)
|
rs762715765
|
0.00004
|
NM_201596.3(CACNB2):c.1814C>G (p.Ser605Cys)
|
rs548428286
|
0.00004
|
NM_201596.3(CACNB2):c.1898G>A (p.Arg633His)
|
rs780045364
|
0.00004
|
NM_201596.3(CACNB2):c.218C>T (p.Ser73Leu)
|
rs755056713
|
0.00004
|
NM_201596.3(CACNB2):c.342C>T (p.Pro114=)
|
rs368505003
|
0.00004
|
NM_201596.3(CACNB2):c.381G>A (p.Ala127=)
|
rs371985646
|
0.00004
|
NM_201596.3(CACNB2):c.427G>A (p.Glu143Lys)
|
rs368719191
|
0.00004
|
NM_201596.3(CACNB2):c.718C>G (p.Pro240Ala)
|
rs750627674
|
0.00004
|
NM_201596.3(CACNB2):c.840C>T (p.Ser280=)
|
rs755781519
|
0.00004
|
NM_000335.5(SCN5A):c.-7T>G
|
rs863224816
|
0.00003
|
NM_000335.5(SCN5A):c.3663+4C>G
|
rs539737269
|
0.00003
|
NM_000335.5(SCN5A):c.3914G>A (p.Arg1305His)
|
rs730880207
|
0.00003
|
NM_000722.4(CACNA2D1):c.1038+8T>C
|
rs1248422043
|
0.00003
|
NM_000722.4(CACNA2D1):c.1101G>A (p.Glu367=)
|
rs145809709
|
0.00003
|
NM_000722.4(CACNA2D1):c.1411G>A (p.Gly471Ser)
|
rs377337212
|
0.00003
|
NM_000722.4(CACNA2D1):c.1611A>G (p.Pro537=)
|
rs76594260
|
0.00003
|
NM_000722.4(CACNA2D1):c.1635A>C (p.Ala545=)
|
rs540691116
|
0.00003
|
NM_000722.4(CACNA2D1):c.2464-4T>G
|
rs752369061
|
0.00003
|
NM_000722.4(CACNA2D1):c.2837-10G>A
|
rs530040333
|
0.00003
|
NM_000722.4(CACNA2D1):c.2986C>A (p.Leu996Ile)
|
rs1218449046
|
0.00003
|
NM_000722.4(CACNA2D1):c.312G>A (p.Ala104=)
|
rs565135307
|
0.00003
|
NM_000722.4(CACNA2D1):c.489C>T (p.His163=)
|
rs372039045
|
0.00003
|
NM_000722.4(CACNA2D1):c.95+10C>T
|
rs757840920
|
0.00003
|
NM_001037.5(SCN1B):c.134G>A (p.Arg45His)
|
rs180943300
|
0.00003
|
NM_001037.5(SCN1B):c.23T>C (p.Val8Ala)
|
rs786205833
|
0.00003
|
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp)
|
rs104894718
|
0.00003
|
NM_001037.5(SCN1B):c.366C>T (p.His122=)
|
rs761207251
|
0.00003
|
NM_001037.5(SCN1B):c.414C>T (p.Val138=)
|
rs757116018
|
0.00003
|
NM_001037.5(SCN1B):c.448+219C>G
|
rs754870200
|
0.00003
|
NM_001037.5(SCN1B):c.448+257G>C
|
rs1040023313
|
0.00003
|
NM_001037.5(SCN1B):c.448+308C>A
|
rs986180682
|
0.00003
|
NM_001037.5(SCN1B):c.448+30G>A
|
rs369058711
|
0.00003
|
NM_001037.5(SCN1B):c.448+311G>A
|
rs1019053238
|
0.00003
|
NM_001037.5(SCN1B):c.591-5C>T
|
rs1555721514
|
0.00003
|
NM_001037.5(SCN1B):c.64G>A (p.Val22Met)
|
rs745578106
|
0.00003
|
NM_001037.5(SCN1B):c.82A>G (p.Thr28Ala)
|
rs786205838
|
0.00003
|
NM_001037.5(SCN1B):c.90C>T (p.Ala30=)
|
rs753994622
|
0.00003
|
NM_001040151.2(SCN3B):c.14A>G (p.Asn5Ser)
|
rs369522500
|
0.00003
|
NM_001040151.2(SCN3B):c.249G>A (p.Glu83=)
|
rs199974089
|
0.00003
|
NM_001040151.2(SCN3B):c.395G>A (p.Arg132Gln)
|
rs755967151
|
0.00003
|
NM_001040151.2(SCN3B):c.415C>T (p.Arg139Trp)
|
rs368054375
|
0.00003
|
NM_001040151.2(SCN3B):c.630G>A (p.Ala210=)
|
rs758915355
|
0.00003
|
NM_001377540.1(SLMAP):c.*39C>A
|
rs777110788
|
0.00003
|
NM_001377540.1(SLMAP):c.*69C>T
|
rs768374166
|
0.00003
|
NM_001377540.1(SLMAP):c.1270A>G (p.Thr424Ala)
|
rs746146243
|
0.00003
|
NM_001377540.1(SLMAP):c.1317A>G (p.Glu439=)
|
rs189861519
|
0.00003
|
NM_001377540.1(SLMAP):c.1704A>G (p.Gln568=)
|
rs771986392
|
0.00003
|
NM_001377540.1(SLMAP):c.1747A>G (p.Lys583Glu)
|
rs1260232243
|
0.00003
|
NM_001377540.1(SLMAP):c.2065G>A (p.Glu689Lys)
|
rs147989677
|
0.00003
|
NM_001377540.1(SLMAP):c.2310+8G>A
|
rs1390124767
|
0.00003
|
NM_001377540.1(SLMAP):c.407G>A (p.Arg136Gln)
|
rs142516364
|
0.00003
|
NM_001377540.1(SLMAP):c.687+17A>C
|
rs370741702
|
0.00003
|
NM_001377540.1(SLMAP):c.710G>A (p.Arg237Gln)
|
rs767174100
|
0.00003
|
NM_001377540.1(SLMAP):c.828+10_828+11insA
|
rs766631211
|
0.00003
|
NM_004982.4(KCNJ8):c.1266G>A (p.Ser422=)
|
rs772569559
|
0.00003
|
NM_004982.4(KCNJ8):c.588T>C (p.His196=)
|
rs373707000
|
0.00003
|
NM_005472.5(KCNE3):c.304A>G (p.Met102Val)
|
rs556647231
|
0.00003
|
NM_005472.5(KCNE3):c.94C>T (p.Arg32Trp)
|
rs755300564
|
0.00003
|
NM_005472.5(KCNE3):c.95G>A (p.Arg32Gln)
|
rs745645715
|
0.00003
|
NM_005477.3(HCN4):c.1005G>A (p.Met335Ile)
|
rs758797709
|
0.00003
|
NM_005477.3(HCN4):c.117C>T (p.Gly39=)
|
rs1009333860
|
0.00003
|
NM_005477.3(HCN4):c.1591-9C>T
|
rs762087263
|
0.00003
|
NM_005477.3(HCN4):c.1632G>A (p.Pro544=)
|
rs544585089
|
0.00003
|
NM_005477.3(HCN4):c.1665C>T (p.Tyr555=)
|
rs147075615
|
0.00003
|
NM_005477.3(HCN4):c.1713C>T (p.Gly571=)
|
rs754495351
|
0.00003
|
NM_005477.3(HCN4):c.1737+15G>A
|
rs373525704
|
0.00003
|
NM_005477.3(HCN4):c.174C>A (p.Pro58=)
|
rs920292438
|
0.00003
|
NM_005477.3(HCN4):c.1915G>A (p.Val639Met)
|
rs563194186
|
0.00003
|
NM_005477.3(HCN4):c.2143+11G>C
|
rs1237920489
|
0.00003
|
NM_005477.3(HCN4):c.2193C>T (p.Ser731=)
|
rs373015590
|
0.00003
|
NM_005477.3(HCN4):c.2355C>T (p.Ala785=)
|
rs554689537
|
0.00003
|
NM_005477.3(HCN4):c.249C>T (p.Gly83=)
|
rs1183278712
|
0.00003
|
NM_005477.3(HCN4):c.2507C>T (p.Ala836Val)
|
rs755045071
|
0.00003
|
NM_005477.3(HCN4):c.2783C>T (p.Pro928Leu)
|
rs1016286710
|
0.00003
|
NM_005477.3(HCN4):c.2796C>T (p.Gly932=)
|
rs765986414
|
0.00003
|
NM_005477.3(HCN4):c.2801G>A (p.Arg934His)
|
rs369485237
|
0.00003
|
NM_005477.3(HCN4):c.2830G>A (p.Ala944Thr)
|
rs777648103
|
0.00003
|
NM_005477.3(HCN4):c.2839G>A (p.Gly947Arg)
|
rs753524680
|
0.00003
|
NM_005477.3(HCN4):c.2990C>A (p.Pro997His)
|
rs375788137
|
0.00003
|
NM_005477.3(HCN4):c.3057T>C (p.Phe1019=)
|
rs774175308
|
0.00003
|
NM_005477.3(HCN4):c.3228C>T (p.Pro1076=)
|
rs770161577
|
0.00003
|
NM_005477.3(HCN4):c.3229G>A (p.Gly1077Ser)
|
rs746291340
|
0.00003
|
NM_005477.3(HCN4):c.3293C>T (p.Ala1098Val)
|
rs1064797200
|
0.00003
|
NM_005477.3(HCN4):c.3371G>A (p.Gly1124Asp)
|
rs981056449
|
0.00003
|
NM_005477.3(HCN4):c.3379G>A (p.Gly1127Arg)
|
rs748279911
|
0.00003
|
NM_005477.3(HCN4):c.3411C>T (p.Pro1137=)
|
rs763496884
|
0.00003
|
NM_005477.3(HCN4):c.3541A>C (p.Thr1181Pro)
|
rs761260469
|
0.00003
|
NM_005477.3(HCN4):c.515C>G (p.Pro172Arg)
|
rs747356931
|
0.00003
|
NM_005477.3(HCN4):c.581C>T (p.Ala194Val)
|
rs773676799
|
0.00003
|
NM_005477.3(HCN4):c.954C>T (p.Ile318=)
|
rs764050400
|
0.00003
|
NM_006514.4(SCN10A):c.1137C>T (p.Leu379=)
|
rs780601275
|
0.00003
|
NM_006514.4(SCN10A):c.1196C>T (p.Ala399Val)
|
rs371834396
|
0.00003
|
NM_006514.4(SCN10A):c.1305A>G (p.Leu435=)
|
rs1345381163
|
0.00003
|
NM_006514.4(SCN10A):c.1341A>C (p.Gly447=)
|
rs762944719
|
0.00003
|
NM_006514.4(SCN10A):c.1454G>A (p.Arg485His)
|
rs746690639
|
0.00003
|
NM_006514.4(SCN10A):c.1486A>G (p.Lys496Glu)
|
rs755100226
|
0.00003
|
NM_006514.4(SCN10A):c.1534C>T (p.Arg512Ter)
|
rs200714519
|
0.00003
|
NM_006514.4(SCN10A):c.1618G>C (p.Gly540Arg)
|
rs779182285
|
0.00003
|
NM_006514.4(SCN10A):c.1731T>C (p.Leu577=)
|
rs771145743
|
0.00003
|
NM_006514.4(SCN10A):c.1761C>T (p.Phe587=)
|
rs199645904
|
0.00003
|
NM_006514.4(SCN10A):c.1788G>T (p.Leu596Phe)
|
rs764965507
|
0.00003
|
NM_006514.4(SCN10A):c.2025C>T (p.Ile675=)
|
rs371261235
|
0.00003
|
NM_006514.4(SCN10A):c.2026G>A (p.Val676Met)
|
rs576503650
|
0.00003
|
NM_006514.4(SCN10A):c.2258C>G (p.Ser753Cys)
|
rs1319283606
|
0.00003
|
NM_006514.4(SCN10A):c.2282T>C (p.Leu761Pro)
|
rs139988577
|
0.00003
|
NM_006514.4(SCN10A):c.2324C>T (p.Thr775Ile)
|
rs150501065
|
0.00003
|
NM_006514.4(SCN10A):c.232C>T (p.Pro78Ser)
|
rs753292241
|
0.00003
|
NM_006514.4(SCN10A):c.2367C>A (p.Asn789Lys)
|
rs770046573
|
0.00003
|
NM_006514.4(SCN10A):c.2484C>T (p.Pro828=)
|
rs777634572
|
0.00003
|
NM_006514.4(SCN10A):c.2485C>T (p.Arg829Cys)
|
rs755974168
|
0.00003
|
NM_006514.4(SCN10A):c.258C>T (p.Tyr86=)
|
rs201680315
|
0.00003
|
NM_006514.4(SCN10A):c.2599C>T (p.Leu867Phe)
|
rs1398369804
|
0.00003
|
NM_006514.4(SCN10A):c.2615C>T (p.Thr872Met)
|
rs757355631
|
0.00003
|
NM_006514.4(SCN10A):c.2747G>A (p.Arg916Gln)
|
rs267599804
|
0.00003
|
NM_006514.4(SCN10A):c.3061C>T (p.Gln1021Ter)
|
rs751252167
|
0.00003
|
NM_006514.4(SCN10A):c.3138G>A (p.Arg1046=)
|
rs371613636
|
0.00003
|
NM_006514.4(SCN10A):c.3237C>T (p.Asp1079=)
|
rs745921364
|
0.00003
|
NM_006514.4(SCN10A):c.3264G>A (p.Thr1088=)
|
rs139332101
|
0.00003
|
NM_006514.4(SCN10A):c.3394A>C (p.Lys1132Gln)
|
rs756848600
|
0.00003
|
NM_006514.4(SCN10A):c.3440G>A (p.Arg1147His)
|
rs375926577
|
0.00003
|
NM_006514.4(SCN10A):c.3597C>T (p.Phe1199=)
|
rs758184076
|
0.00003
|
NM_006514.4(SCN10A):c.3943G>A (p.Asp1315Asn)
|
rs147640811
|
0.00003
|
NM_006514.4(SCN10A):c.3972G>A (p.Ser1324=)
|
rs149883899
|
0.00003
|
NM_006514.4(SCN10A):c.3990T>G (p.Ser1330=)
|
rs149685953
|
0.00003
|
NM_006514.4(SCN10A):c.4112A>G (p.Asp1371Gly)
|
rs376193439
|
0.00003
|
NM_006514.4(SCN10A):c.4164G>A (p.Trp1388Ter)
|
rs756253735
|
0.00003
|
NM_006514.4(SCN10A):c.4174G>A (p.Val1392Met)
|
rs539215014
|
0.00003
|
NM_006514.4(SCN10A):c.4294G>A (p.Asp1432Asn)
|
rs760268052
|
0.00003
|
NM_006514.4(SCN10A):c.445C>T (p.Arg149Ter)
|
rs745868315
|
0.00003
|
NM_006514.4(SCN10A):c.4573A>G (p.Met1525Val)
|
rs373085099
|
0.00003
|
NM_006514.4(SCN10A):c.4830C>T (p.Ile1610=)
|
rs139221219
|
0.00003
|
NM_006514.4(SCN10A):c.4857C>A (p.Phe1619Leu)
|
rs767025015
|
0.00003
|
NM_006514.4(SCN10A):c.4878G>A (p.Met1626Ile)
|
rs371337228
|
0.00003
|
NM_006514.4(SCN10A):c.4915G>A (p.Asp1639Asn)
|
rs368582725
|
0.00003
|
NM_006514.4(SCN10A):c.4976C>T (p.Thr1659Met)
|
rs200761212
|
0.00003
|
NM_006514.4(SCN10A):c.5151C>T (p.Tyr1717=)
|
rs988521314
|
0.00003
|
NM_006514.4(SCN10A):c.5256C>T (p.Asp1752=)
|
rs138532656
|
0.00003
|
NM_006514.4(SCN10A):c.5263G>A (p.Ala1755Thr)
|
rs371924465
|
0.00003
|
NM_006514.4(SCN10A):c.5365G>A (p.Asp1789Asn)
|
rs375735101
|
0.00003
|
NM_006514.4(SCN10A):c.5690T>A (p.Phe1897Tyr)
|
rs754159937
|
0.00003
|
NM_006514.4(SCN10A):c.5694del (p.Ala1899fs)
|
rs747321219
|
0.00003
|
NM_006514.4(SCN10A):c.691+18G>A
|
rs1468647454
|
0.00003
|
NM_006514.4(SCN10A):c.955T>A (p.Cys319Ser)
|
rs199715855
|
0.00003
|
NM_012282.4(KCNE5):c.263T>A (p.Val88Asp)
|
rs1420621771
|
0.00003
|
NM_015141.4(GPD1L):c.11C>T (p.Ala4Val)
|
rs201152084
|
0.00003
|
NM_015141.4(GPD1L):c.505+2T>G
|
rs943929226
|
0.00003
|
NM_015141.4(GPD1L):c.525C>T (p.Asn175=)
|
rs142198171
|
0.00003
|
NM_015141.4(GPD1L):c.547C>G (p.Leu183Val)
|
rs1376727184
|
0.00003
|
NM_015141.4(GPD1L):c.775G>A (p.Gly259Arg)
|
rs146477959
|
0.00003
|
NM_201596.3(CACNB2):c.1055-11G>A
|
rs370266150
|
0.00003
|
NM_201596.3(CACNB2):c.1489-9C>T
|
rs759870881
|
0.00003
|
NM_201596.3(CACNB2):c.1522G>A (p.Ala508Thr)
|
rs759958799
|
0.00003
|
NM_201596.3(CACNB2):c.1580A>C (p.Lys527Thr)
|
rs771565696
|
0.00003
|
NM_201596.3(CACNB2):c.1833C>T (p.Asp611=)
|
rs777607595
|
0.00003
|
NM_201596.3(CACNB2):c.1841G>A (p.Arg614Gln)
|
rs367619172
|
0.00003
|
NM_201596.3(CACNB2):c.1935A>C (p.Lys645Asn)
|
rs772752419
|
0.00003
|
NM_201596.3(CACNB2):c.544A>G (p.Met182Val)
|
rs775466397
|
0.00003
|
NM_201596.3(CACNB2):c.576A>G (p.Gln192=)
|
rs756710473
|
0.00003
|
NM_201596.3(CACNB2):c.800A>G (p.Lys267Arg)
|
rs771875189
|
0.00003
|
NM_201596.3(CACNB2):c.807A>G (p.Thr269=)
|
rs1173334982
|
0.00003
|
NM_000335.5(SCN5A):c.3004C>T (p.Pro1002Ser)
|
rs750100874
|
0.00002
|
NM_000335.5(SCN5A):c.5842G>A (p.Ala1948Thr)
|
rs199473330
|
0.00002
|
NM_000722.4(CACNA2D1):c.1734+8T>C
|
rs1008923000
|
0.00002
|
NM_000722.4(CACNA2D1):c.174T>C (p.Val58=)
|
rs771474248
|
0.00002
|
NM_000722.4(CACNA2D1):c.1993A>G (p.Thr665Ala)
|
rs780901801
|
0.00002
|
NM_000722.4(CACNA2D1):c.2658T>C (p.Tyr886=)
|
rs775601344
|
0.00002
|
NM_000722.4(CACNA2D1):c.2682C>T (p.Pro894=)
|
rs147728344
|
0.00002
|
NM_000722.4(CACNA2D1):c.2836+18C>A
|
rs769849031
|
0.00002
|
NM_000722.4(CACNA2D1):c.2837-14C>G
|
rs774076778
|
0.00002
|
NM_000722.4(CACNA2D1):c.2869C>T (p.Leu957=)
|
rs767963200
|
0.00002
|
NM_000722.4(CACNA2D1):c.3260C>T (p.Thr1087Ile)
|
rs1457933535
|
0.00002
|
NM_000722.4(CACNA2D1):c.560G>A (p.Ser187Asn)
|
rs955984125
|
0.00002
|
NM_000722.4(CACNA2D1):c.592G>A (p.Glu198Lys)
|
rs370389203
|
0.00002
|
NM_000722.4(CACNA2D1):c.688C>T (p.Pro230Ser)
|
rs1461155317
|
0.00002
|
NM_001037.5(SCN1B):c.254G>A (p.Arg85His)
|
rs16969925
|
0.00002
|
NM_001037.5(SCN1B):c.287G>A (p.Arg96Gln)
|
rs372289648
|
0.00002
|
NM_001037.5(SCN1B):c.358G>A (p.Glu120Lys)
|
rs772112038
|
0.00002
|
NM_001037.5(SCN1B):c.367G>A (p.Val123Ile)
|
rs754215948
|
0.00002
|
NM_001037.5(SCN1B):c.408C>T (p.Thr136=)
|
rs200126026
|
0.00002
|
NM_001037.5(SCN1B):c.448+100G>T
|
rs779658201
|
0.00002
|
NM_001037.5(SCN1B):c.448+159C>T
|
rs774036126
|
0.00002
|
NM_001037.5(SCN1B):c.472G>C (p.Val158Leu)
|
rs138450474
|
0.00002
|
NM_001037.5(SCN1B):c.546C>T (p.Tyr182=)
|
rs775659068
|
0.00002
|
NM_001037.5(SCN1B):c.55G>A (p.Gly19Arg)
|
rs771386831
|
0.00002
|
NM_001037.5(SCN1B):c.585G>A (p.Glu195=)
|
rs753271148
|
0.00002
|
NM_001037.5(SCN1B):c.590C>T (p.Ala197Val)
|
rs554201948
|
0.00002
|
NM_001037.5(SCN1B):c.623A>T (p.Lys208Ile)
|
rs780958012
|
0.00002
|
NM_001037.5(SCN1B):c.636G>A (p.Thr212=)
|
rs763715229
|
0.00002
|
NM_001037.5(SCN1B):c.638G>A (p.Gly213Asp)
|
rs201209882
|
0.00002
|
NM_001037.5(SCN1B):c.63C>T (p.Cys21=)
|
rs200339565
|
0.00002
|
NM_001037.5(SCN1B):c.84C>T (p.Thr28=)
|
rs147616219
|
0.00002
|
NM_001040151.2(SCN3B):c.232C>T (p.Arg78Trp)
|
rs764587765
|
0.00002
|
NM_001040151.2(SCN3B):c.233G>A (p.Arg78Gln)
|
rs375545539
|
0.00002
|
NM_001040151.2(SCN3B):c.394C>T (p.Arg132Trp)
|
rs371558196
|
0.00002
|
NM_001040151.2(SCN3B):c.445+8T>C
|
rs759996960
|
0.00002
|
NM_001040151.2(SCN3B):c.55+3A>G
|
rs767074394
|
0.00002
|
NM_001040151.2(SCN3B):c.561C>T (p.Ala187=)
|
rs746888620
|
0.00002
|
NM_001377540.1(SLMAP):c.1312G>A (p.Val438Ile)
|
rs751946618
|
0.00002
|
NM_001377540.1(SLMAP):c.1407T>C (p.Ser469=)
|
rs191693100
|
0.00002
|
NM_001377540.1(SLMAP):c.1624+1G>T
|
rs140490085
|
0.00002
|
NM_001377540.1(SLMAP):c.1655G>A (p.Arg552Gln)
|
rs372758327
|
0.00002
|
NM_001377540.1(SLMAP):c.1814A>G (p.His605Arg)
|
rs746778162
|
0.00002
|
NM_001377540.1(SLMAP):c.192G>A (p.Thr64=)
|
rs753251889
|
0.00002
|
NM_001377540.1(SLMAP):c.2189T>A (p.Met730Lys)
|
rs371314097
|
0.00002
|
NM_001377540.1(SLMAP):c.2243G>A (p.Arg748Gln)
|
rs141277984
|
0.00002
|
NM_001377540.1(SLMAP):c.457-15G>A
|
rs747711840
|
0.00002
|
NM_001377540.1(SLMAP):c.4C>T (p.Pro2Ser)
|
rs973236515
|
0.00002
|
NM_001377540.1(SLMAP):c.520-8A>G
|
rs761841068
|
0.00002
|
NM_001377540.1(SLMAP):c.570G>A (p.Gln190=)
|
rs1033242738
|
0.00002
|
NM_001377540.1(SLMAP):c.646C>T (p.Arg216Trp)
|
rs367733735
|
0.00002
|
NM_001377540.1(SLMAP):c.651A>G (p.Leu217=)
|
rs74857771
|
0.00002
|
NM_001377540.1(SLMAP):c.72G>C (p.Leu24=)
|
rs752516913
|
0.00002
|
NM_001377540.1(SLMAP):c.75C>T (p.Asp25=)
|
rs768802511
|
0.00002
|
NM_001377540.1(SLMAP):c.828+11del
|
rs113521063
|
0.00002
|
NM_001377540.1(SLMAP):c.940A>G (p.Ile314Val)
|
rs776232087
|
0.00002
|
NM_004982.4(KCNJ8):c.1196G>A (p.Arg399Gln)
|
rs142014286
|
0.00002
|
NM_004982.4(KCNJ8):c.189C>T (p.Thr63=)
|
rs375355931
|
0.00002
|
NM_004982.4(KCNJ8):c.353C>T (p.Thr118Ile)
|
rs770087869
|
0.00002
|
NM_004982.4(KCNJ8):c.820C>T (p.Arg274Cys)
|
rs781083385
|
0.00002
|
NM_005472.5(KCNE3):c.10A>G (p.Thr4Ala)
|
rs200856070
|
0.00002
|
NM_005472.5(KCNE3):c.20C>T (p.Thr7Met)
|
rs547194943
|
0.00002
|
NM_005472.5(KCNE3):c.262C>T (p.Arg88Cys)
|
rs763157740
|
0.00002
|
NM_005472.5(KCNE3):c.263G>A (p.Arg88His)
|
rs17221833
|
0.00002
|
NM_005472.5(KCNE3):c.48C>T (p.Ala16=)
|
rs930193305
|
0.00002
|
NM_005472.5(KCNE3):c.49G>A (p.Val17Met)
|
rs773287275
|
0.00002
|
NM_005477.3(HCN4):c.102G>A (p.Glu34=)
|
rs764116333
|
0.00002
|
NM_005477.3(HCN4):c.1053C>T (p.Pro351=)
|
rs773287506
|
0.00002
|
NM_005477.3(HCN4):c.1094C>T (p.Ser365Leu)
|
rs745346676
|
0.00002
|
NM_005477.3(HCN4):c.1123C>T (p.Arg375Cys)
|
rs755356387
|
0.00002
|
NM_005477.3(HCN4):c.1140G>A (p.Thr380=)
|
rs370059727
|
0.00002
|
NM_005477.3(HCN4):c.1266C>T (p.Ile422=)
|
rs775316202
|
0.00002
|
NM_005477.3(HCN4):c.1338T>G (p.Pro446=)
|
rs780604251
|
0.00002
|
NM_005477.3(HCN4):c.1385G>A (p.Gly462Glu)
|
rs146714274
|
0.00002
|
NM_005477.3(HCN4):c.1401C>T (p.Tyr467=)
|
rs753580737
|
0.00002
|
NM_005477.3(HCN4):c.1443C>T (p.Tyr481=)
|
rs200337785
|
0.00002
|
NM_005477.3(HCN4):c.1448G>A (p.Arg483Gln)
|
rs998387579
|
0.00002
|
NM_005477.3(HCN4):c.1570C>A (p.Arg524=)
|
rs756855616
|
0.00002
|
NM_005477.3(HCN4):c.1695C>T (p.Asp565=)
|
rs1182908564
|
0.00002
|
NM_005477.3(HCN4):c.1732C>T (p.Arg578Trp)
|
rs752953709
|
0.00002
|
NM_005477.3(HCN4):c.1737+19C>T
|
rs369310342
|
0.00002
|
NM_005477.3(HCN4):c.1818C>T (p.Ser606=)
|
rs1247778865
|
0.00002
|
NM_005477.3(HCN4):c.1871G>A (p.Arg624Gln)
|
rs763842368
|
0.00002
|
NM_005477.3(HCN4):c.1962C>T (p.Asp654=)
|
rs754108543
|
0.00002
|
NM_005477.3(HCN4):c.1997G>A (p.Arg666Gln)
|
rs781395940
|
0.00002
|
NM_005477.3(HCN4):c.2016C>T (p.Ser672=)
|
rs104894488
|
0.00002
|
NM_005477.3(HCN4):c.2063A>G (p.Asn688Ser)
|
rs778801845
|
0.00002
|
NM_005477.3(HCN4):c.2194G>A (p.Gly732Ser)
|
rs199530458
|
0.00002
|
NM_005477.3(HCN4):c.2235T>G (p.Ile745Met)
|
rs1438842471
|
0.00002
|
NM_005477.3(HCN4):c.2249G>A (p.Arg750Gln)
|
rs774330689
|
0.00002
|
NM_005477.3(HCN4):c.2272C>T (p.Arg758Cys)
|
rs777209839
|
0.00002
|
NM_005477.3(HCN4):c.2294C>G (p.Ala765Gly)
|
rs750833108
|
0.00002
|
NM_005477.3(HCN4):c.2310G>A (p.Thr770=)
|
rs146809501
|
0.00002
|
NM_005477.3(HCN4):c.2370T>C (p.Ser790=)
|
rs747648596
|
0.00002
|
NM_005477.3(HCN4):c.2374G>T (p.Ala792Ser)
|
rs756650627
|
0.00002
|
NM_005477.3(HCN4):c.240G>C (p.Pro80=)
|
rs747646946
|
0.00002
|
NM_005477.3(HCN4):c.2419C>T (p.Arg807Cys)
|
rs758427944
|
0.00002
|
NM_005477.3(HCN4):c.2444G>C (p.Gly815Ala)
|
rs918010761
|
0.00002
|
NM_005477.3(HCN4):c.2518G>A (p.Ala840Thr)
|
rs761507884
|
0.00002
|
NM_005477.3(HCN4):c.2555C>T (p.Pro852Leu)
|
rs779241036
|
0.00002
|
NM_005477.3(HCN4):c.2606C>T (p.Ala869Val)
|
rs540848262
|
0.00002
|
NM_005477.3(HCN4):c.2764G>A (p.Asp922Asn)
|
rs1020318942
|
0.00002
|
NM_005477.3(HCN4):c.2807C>T (p.Pro936Leu)
|
rs769959023
|
0.00002
|
NM_005477.3(HCN4):c.2833C>T (p.Pro945Ser)
|
rs778739758
|
0.00002
|
NM_005477.3(HCN4):c.2865G>A (p.Pro955=)
|
rs1385591989
|
0.00002
|
NM_005477.3(HCN4):c.2875C>G (p.Leu959Val)
|
rs1057524285
|
0.00002
|
NM_005477.3(HCN4):c.2916C>T (p.Pro972=)
|
rs559422705
|
0.00002
|
NM_005477.3(HCN4):c.3008C>T (p.Pro1003Leu)
|
rs1475883901
|
0.00002
|
NM_005477.3(HCN4):c.3049G>A (p.Val1017Ile)
|
rs1476274605
|
0.00002
|
NM_005477.3(HCN4):c.3075C>T (p.Leu1025=)
|
rs942973135
|
0.00002
|
NM_005477.3(HCN4):c.3081C>T (p.Pro1027=)
|
rs1226393084
|
0.00002
|
NM_005477.3(HCN4):c.3116C>T (p.Pro1039Leu)
|
rs572132730
|
0.00002
|
NM_005477.3(HCN4):c.3131G>A (p.Arg1044Gln)
|
rs750637152
|
0.00002
|
NM_005477.3(HCN4):c.3148G>A (p.Gly1050Arg)
|
rs1443227484
|
0.00002
|
NM_005477.3(HCN4):c.3197C>A (p.Pro1066His)
|
rs765155640
|
0.00002
|
NM_005477.3(HCN4):c.3218C>T (p.Pro1073Leu)
|
rs982016034
|
0.00002
|
NM_005477.3(HCN4):c.3232C>T (p.Arg1078Cys)
|
rs781376523
|
0.00002
|
NM_005477.3(HCN4):c.3264G>A (p.Ala1088=)
|
rs752705479
|
0.00002
|
NM_005477.3(HCN4):c.3317C>T (p.Pro1106Leu)
|
rs940405280
|
0.00002
|
NM_005477.3(HCN4):c.334G>A (p.Gly112Ser)
|
rs765099391
|
0.00002
|
NM_005477.3(HCN4):c.3354C>T (p.Leu1118=)
|
rs867816182
|
0.00002
|
NM_005477.3(HCN4):c.3383G>T (p.Gly1128Val)
|
rs727503957
|
0.00002
|
NM_005477.3(HCN4):c.3581C>T (p.Pro1194Leu)
|
rs147982868
|
0.00002
|
NM_005477.3(HCN4):c.3605A>G (p.Asn1202Ser)
|
rs768028811
|
0.00002
|
NM_005477.3(HCN4):c.375C>T (p.Ser125=)
|
rs1310424203
|
0.00002
|
NM_005477.3(HCN4):c.409G>A (p.Ala137Thr)
|
rs767160441
|
0.00002
|
NM_005477.3(HCN4):c.528C>T (p.Ser176=)
|
rs369418464
|
0.00002
|
NM_005477.3(HCN4):c.556A>G (p.Thr186Ala)
|
rs1085307696
|
0.00002
|
NM_005477.3(HCN4):c.691C>T (p.Leu231=)
|
rs1236917170
|
0.00002
|
NM_005477.3(HCN4):c.785+13A>C
|
rs573865102
|
0.00002
|
NM_005477.3(HCN4):c.786-4G>A
|
rs757807007
|
0.00002
|
NM_005477.3(HCN4):c.88G>A (p.Glu30Lys)
|
rs786205802
|
0.00002
|
NM_005477.3(HCN4):c.924C>T (p.Ile308=)
|
rs1256500370
|
0.00002
|
NM_006514.4(SCN10A):c.1197G>A (p.Ala399=)
|
rs759422516
|
0.00002
|
NM_006514.4(SCN10A):c.1276C>T (p.Arg426Trp)
|
rs532774213
|
0.00002
|
NM_006514.4(SCN10A):c.1286A>G (p.Gln429Arg)
|
rs1331566750
|
0.00002
|
NM_006514.4(SCN10A):c.132G>A (p.Gln44=)
|
rs138739418
|
0.00002
|
NM_006514.4(SCN10A):c.1397T>C (p.Val466Ala)
|
rs764168768
|
0.00002
|
NM_006514.4(SCN10A):c.1516C>A (p.His506Asn)
|
rs745555704
|
0.00002
|
NM_006514.4(SCN10A):c.1756-5A>T
|
rs770047247
|
0.00002
|
NM_006514.4(SCN10A):c.1756-8C>T
|
rs773409661
|
0.00002
|
NM_006514.4(SCN10A):c.1825A>T (p.Arg609Trp)
|
rs769962695
|
0.00002
|
NM_006514.4(SCN10A):c.2055G>C (p.Glu685Asp)
|
rs921491588
|
0.00002
|
NM_006514.4(SCN10A):c.2195T>C (p.Phe732Ser)
|
rs373216811
|
0.00002
|
NM_006514.4(SCN10A):c.2221C>G (p.Leu741Val)
|
rs137906740
|
0.00002
|
NM_006514.4(SCN10A):c.2235C>T (p.Gly745=)
|
rs759129745
|
0.00002
|
NM_006514.4(SCN10A):c.225C>T (p.Ile75=)
|
rs771128445
|
0.00002
|
NM_006514.4(SCN10A):c.2275C>G (p.Arg759Gly)
|
rs745659019
|
0.00002
|
NM_006514.4(SCN10A):c.2286C>T (p.Arg762=)
|
rs756582059
|
0.00002
|
NM_006514.4(SCN10A):c.2449C>T (p.Arg817Ter)
|
rs763084100
|
0.00002
|
NM_006514.4(SCN10A):c.2464G>A (p.Ala822Thr)
|
rs144304164
|
0.00002
|
NM_006514.4(SCN10A):c.2499C>T (p.His833=)
|
rs995722247
|
0.00002
|
NM_006514.4(SCN10A):c.2579T>C (p.Val860Ala)
|
rs781073957
|
0.00002
|
NM_006514.4(SCN10A):c.2700C>T (p.Ala900=)
|
rs768244583
|
0.00002
|
NM_006514.4(SCN10A):c.2702C>T (p.Pro901Leu)
|
rs370965011
|
0.00002
|
NM_006514.4(SCN10A):c.2766T>A (p.His922Gln)
|
rs760270839
|
0.00002
|
NM_006514.4(SCN10A):c.2844G>A (p.Val948=)
|
rs1364529882
|
0.00002
|
NM_006514.4(SCN10A):c.2922C>G (p.Leu974=)
|
rs778416357
|
0.00002
|
NM_006514.4(SCN10A):c.2974A>G (p.Thr992Ala)
|
rs765269419
|
0.00002
|
NM_006514.4(SCN10A):c.2994C>T (p.Pro998=)
|
rs200267333
|
0.00002
|
NM_006514.4(SCN10A):c.3070G>A (p.Val1024Met)
|
rs201106879
|
0.00002
|
NM_006514.4(SCN10A):c.307C>T (p.Arg103Trp)
|
rs750073618
|
0.00002
|
NM_006514.4(SCN10A):c.3157T>A (p.Ser1053Thr)
|
rs962402134
|
0.00002
|
NM_006514.4(SCN10A):c.3191C>T (p.Thr1064Met)
|
rs774803610
|
0.00002
|
NM_006514.4(SCN10A):c.3403T>C (p.Trp1135Arg)
|
rs769714725
|
0.00002
|
NM_006514.4(SCN10A):c.3474C>G (p.Ile1158Met)
|
rs145568435
|
0.00002
|
NM_006514.4(SCN10A):c.3598G>A (p.Glu1200Lys)
|
rs202199966
|
0.00002
|
NM_006514.4(SCN10A):c.3711T>A (p.Ile1237=)
|
rs148339462
|
0.00002
|
NM_006514.4(SCN10A):c.3727G>A (p.Val1243Met)
|
rs765684724
|
0.00002
|
NM_006514.4(SCN10A):c.3742G>C (p.Ala1248Pro)
|
rs764555780
|
0.00002
|
NM_006514.4(SCN10A):c.3760G>A (p.Ala1254Thr)
|
rs773155259
|
0.00002
|
NM_006514.4(SCN10A):c.3766C>T (p.Arg1256Trp)
|
rs747044382
|
0.00002
|
NM_006514.4(SCN10A):c.3796G>A (p.Gly1266Ser)
|
rs199892190
|
0.00002
|
NM_006514.4(SCN10A):c.3822G>A (p.Leu1274=)
|
rs368154191
|
0.00002
|
NM_006514.4(SCN10A):c.3858C>T (p.Leu1286=)
|
rs748570604
|
0.00002
|
NM_006514.4(SCN10A):c.40C>T (p.Arg14Cys)
|
rs750771811
|
0.00002
|
NM_006514.4(SCN10A):c.4113C>T (p.Asp1371=)
|
rs138786127
|
0.00002
|
NM_006514.4(SCN10A):c.4173C>T (p.Asn1391=)
|
rs374352107
|
0.00002
|
NM_006514.4(SCN10A):c.4304T>C (p.Met1435Thr)
|
rs759286277
|
0.00002
|
NM_006514.4(SCN10A):c.4447A>G (p.Met1483Val)
|
rs749549443
|
0.00002
|
NM_006514.4(SCN10A):c.4563C>T (p.Gly1521=)
|
rs774492634
|
0.00002
|
NM_006514.4(SCN10A):c.4567T>C (p.Cys1523Arg)
|
rs763221534
|
0.00002
|
NM_006514.4(SCN10A):c.462G>A (p.Glu154=)
|
rs541804553
|
0.00002
|
NM_006514.4(SCN10A):c.4658-9C>T
|
rs934148052
|
0.00002
|
NM_006514.4(SCN10A):c.46T>C (p.Phe16Leu)
|
rs1432009058
|
0.00002
|
NM_006514.4(SCN10A):c.4753A>C (p.Arg1585=)
|
rs971662156
|
0.00002
|
NM_006514.4(SCN10A):c.4785A>G (p.Thr1595=)
|
rs776278401
|
0.00002
|
NM_006514.4(SCN10A):c.5024C>T (p.Pro1675Leu)
|
rs564943632
|
0.00002
|
NM_006514.4(SCN10A):c.503C>A (p.Ala168Asp)
|
rs558639346
|
0.00002
|
NM_006514.4(SCN10A):c.5093G>T (p.Gly1698Val)
|
rs201985536
|
0.00002
|
NM_006514.4(SCN10A):c.5283T>G (p.Phe1761Leu)
|
rs751237565
|
0.00002
|
NM_006514.4(SCN10A):c.5285C>T (p.Ser1762Phe)
|
rs758177964
|
0.00002
|
NM_006514.4(SCN10A):c.5606G>A (p.Arg1869His)
|
rs765477377
|
0.00002
|
NM_006514.4(SCN10A):c.5637G>A (p.Val1879=)
|
rs769697350
|
0.00002
|
NM_006514.4(SCN10A):c.5760C>T (p.Ser1920=)
|
rs747009227
|
0.00002
|
NM_006514.4(SCN10A):c.5834A>G (p.Glu1945Gly)
|
rs372702302
|
0.00002
|
NM_006514.4(SCN10A):c.612A>G (p.Thr204=)
|
rs565457429
|
0.00002
|
NM_006514.4(SCN10A):c.682G>A (p.Val228Met)
|
rs141368548
|
0.00002
|
NM_006514.4(SCN10A):c.990C>A (p.Asp330Glu)
|
rs1360994164
|
0.00002
|
NM_012282.4(KCNE5):c.305A>C (p.Glu102Ala)
|
rs375008004
|
0.00002
|
NM_012282.4(KCNE5):c.387C>G (p.Ser129=)
|
rs982739595
|
0.00002
|
NM_012282.4(KCNE5):c.49T>C (p.Leu17=)
|
rs759549899
|
0.00002
|
NM_015141.4(GPD1L):c.132A>G (p.Glu44=)
|
rs200273033
|
0.00002
|
NM_015141.4(GPD1L):c.158C>G (p.Thr53Arg)
|
rs1053382446
|
0.00002
|
NM_015141.4(GPD1L):c.54A>G (p.Ser18=)
|
rs147773109
|
0.00002
|
NM_015141.4(GPD1L):c.691C>T (p.Arg231Cys)
|
rs143486835
|
0.00002
|
NM_015141.4(GPD1L):c.759C>G (p.Thr253=)
|
rs753265220
|
0.00002
|
NM_015141.4(GPD1L):c.774C>T (p.Cys258=)
|
rs753955088
|
0.00002
|
NM_015141.4(GPD1L):c.812G>A (p.Arg271Gln)
|
rs1042900556
|
0.00002
|
NM_015141.4(GPD1L):c.838G>A (p.Ala280Thr)
|
rs764691105
|
0.00002
|
NM_201596.3(CACNB2):c.1123G>A (p.Ala375Thr)
|
rs552868927
|
0.00002
|
NM_201596.3(CACNB2):c.1124C>T (p.Ala375Val)
|
rs578106427
|
0.00002
|
NM_201596.3(CACNB2):c.1260C>T (p.Asn420=)
|
rs931370978
|
0.00002
|
NM_201596.3(CACNB2):c.1311C>T (p.Phe437=)
|
rs560020203
|
0.00002
|
NM_201596.3(CACNB2):c.1488+20A>G
|
rs534447096
|
0.00002
|
NM_201596.3(CACNB2):c.1654C>A (p.Gln552Lys)
|
rs1339855749
|
0.00002
|
NM_201596.3(CACNB2):c.1713G>A (p.Lys571=)
|
rs774536008
|
0.00002
|
NM_201596.3(CACNB2):c.1749C>G (p.Ala583=)
|
rs755387775
|
0.00002
|
NM_201596.3(CACNB2):c.1769A>C (p.His590Pro)
|
rs2053936892
|
0.00002
|
NM_201596.3(CACNB2):c.1779G>C (p.Glu593Asp)
|
rs1045331277
|
0.00002
|
NM_201596.3(CACNB2):c.1812G>A (p.Glu604=)
|
rs749947014
|
0.00002
|
NM_201596.3(CACNB2):c.1879C>T (p.Arg627Cys)
|
rs753259405
|
0.00002
|
NM_201596.3(CACNB2):c.1937G>A (p.Arg646Gln)
|
rs374454040
|
0.00002
|
NM_201596.3(CACNB2):c.334-15C>G
|
rs555514946
|
0.00002
|
NM_201596.3(CACNB2):c.426C>T (p.Phe142=)
|
rs564275776
|
0.00002
|
NM_201596.3(CACNB2):c.485G>A (p.Arg162Gln)
|
rs144461906
|
0.00002
|
NM_201596.3(CACNB2):c.886-6T>C
|
rs368130674
|
0.00002
|
NM_201596.3(CACNB2):c.994G>T (p.Val332Leu)
|
rs369543094
|
0.00002
|
NM_000335.5(SCN5A):c.1345A>G (p.Thr449Ala)
|
rs199473571
|
0.00001
|
NM_000335.5(SCN5A):c.1446G>A (p.Met482Ile)
|
rs1212816065
|
0.00001
|
NM_000335.5(SCN5A):c.1517T>A (p.Met506Lys)
|
rs760531609
|
0.00001
|
NM_000335.5(SCN5A):c.1561A>G (p.Lys521Glu)
|
rs201840288
|
0.00001
|
NM_000335.5(SCN5A):c.1868T>C (p.Met623Thr)
|
rs775045819
|
0.00001
|
NM_000335.5(SCN5A):c.193C>T (p.Pro65Ser)
|
rs1202614416
|
0.00001
|
NM_000335.5(SCN5A):c.2114C>T (p.Ser705Phe)
|
rs199473148
|
0.00001
|
NM_000335.5(SCN5A):c.2236G>A (p.Glu746Lys)
|
rs199473582
|
0.00001
|
NM_000335.5(SCN5A):c.2708T>C (p.Met903Thr)
|
rs1341909190
|
0.00001
|
NM_000335.5(SCN5A):c.3148G>A (p.Ala1050Thr)
|
rs1373296470
|
0.00001
|
NM_000335.5(SCN5A):c.3335C>T (p.Ala1112Val)
|
rs199473194
|
0.00001
|
NM_000335.5(SCN5A):c.3365C>T (p.Pro1122Leu)
|
rs1447666161
|
0.00001
|
NM_000335.5(SCN5A):c.3495C>T (p.Asp1165=)
|
rs1358339064
|
0.00001
|
NM_000335.5(SCN5A):c.3534T>C (p.Cys1178=)
|
rs771226633
|
0.00001
|
NM_000335.5(SCN5A):c.3659C>T (p.Ala1220Val)
|
rs727503407
|
0.00001
|
NM_000335.5(SCN5A):c.422T>A (p.Ile141Asn)
|
rs772186966
|
0.00001
|
NM_000335.5(SCN5A):c.4502G>C (p.Gly1501Ala)
|
rs1230010586
|
0.00001
|
NM_000335.5(SCN5A):c.508T>A (p.Phe170Ile)
|
rs371651284
|
0.00001
|
NM_000335.5(SCN5A):c.5207G>A (p.Gly1736Asp)
|
rs773130164
|
0.00001
|
NM_000335.5(SCN5A):c.54G>A (p.Arg18=)
|
rs1285580985
|
0.00001
|
NM_000335.5(SCN5A):c.674G>A (p.Arg225Gln)
|
rs199473071
|
0.00001
|
NM_000335.5(SCN5A):c.680T>C (p.Leu227Pro)
|
rs760011764
|
0.00001
|
NM_000335.5(SCN5A):c.865G>A (p.Gly289Ser)
|
rs199473084
|
0.00001
|
NM_000335.5(SCN5A):c.916C>G (p.Leu306Val)
|
rs748956841
|
0.00001
|
NM_000722.4(CACNA2D1):c.1062C>T (p.Cys354=)
|
rs142965905
|
0.00001
|
NM_000722.4(CACNA2D1):c.1074T>C (p.Ile358=)
|
rs973445005
|
0.00001
|
NM_000722.4(CACNA2D1):c.1144-11A>C
|
rs1343233163
|
0.00001
|
NM_000722.4(CACNA2D1):c.1144-17T>C
|
rs566289758
|
0.00001
|
NM_000722.4(CACNA2D1):c.149C>T (p.Thr50Ile)
|
rs1477267428
|
0.00001
|
NM_000722.4(CACNA2D1):c.1508G>A (p.Arg503His)
|
rs758561622
|
0.00001
|
NM_000722.4(CACNA2D1):c.1526A>G (p.Asn509Ser)
|
rs1386287681
|
0.00001
|
NM_000722.4(CACNA2D1):c.1772C>T (p.Thr591Ile)
|
rs773781850
|
0.00001
|
NM_000722.4(CACNA2D1):c.1880A>G (p.Lys627Arg)
|
rs1064795828
|
0.00001
|
NM_000722.4(CACNA2D1):c.1884C>T (p.Gly628=)
|
rs752092062
|
0.00001
|
NM_000722.4(CACNA2D1):c.1906C>G (p.Leu636Val)
|
rs1218084026
|
0.00001
|
NM_000722.4(CACNA2D1):c.1924G>C (p.Glu642Gln)
|
rs775481386
|
0.00001
|
NM_000722.4(CACNA2D1):c.1941A>G (p.Thr647=)
|
rs1796550348
|
0.00001
|
NM_000722.4(CACNA2D1):c.1955+6T>A
|
rs770715906
|
0.00001
|
NM_000722.4(CACNA2D1):c.1990A>T (p.Asn664Tyr)
|
rs777463785
|
0.00001
|
NM_000722.4(CACNA2D1):c.2031A>G (p.Arg677=)
|
rs766067770
|
0.00001
|
NM_000722.4(CACNA2D1):c.2040A>G (p.Pro680=)
|
rs538190370
|
0.00001
|
NM_000722.4(CACNA2D1):c.2060C>T (p.Ala687Val)
|
rs761738920
|
0.00001
|
NM_000722.4(CACNA2D1):c.2077G>A (p.Val693Ile)
|
rs767475523
|
0.00001
|
NM_000722.4(CACNA2D1):c.2238A>G (p.Thr746=)
|
rs192741898
|
0.00001
|
NM_000722.4(CACNA2D1):c.2244G>A (p.Glu748=)
|
rs754217639
|
0.00001
|
NM_000722.4(CACNA2D1):c.2321G>A (p.Gly774Asp)
|
rs776559898
|
0.00001
|
NM_000722.4(CACNA2D1):c.2463+14A>T
|
rs749391834
|
0.00001
|
NM_000722.4(CACNA2D1):c.2502+14T>G
|
rs376879282
|
0.00001
|
NM_000722.4(CACNA2D1):c.2592A>T (p.Gly864=)
|
rs556022468
|
0.00001
|
NM_000722.4(CACNA2D1):c.2602C>T (p.Pro868Ser)
|
rs1454596711
|
0.00001
|
NM_000722.4(CACNA2D1):c.2606G>A (p.Ser869Asn)
|
rs1379942443
|
0.00001
|
NM_000722.4(CACNA2D1):c.2683G>A (p.Gly895Ser)
|
rs772889955
|
0.00001
|
NM_000722.4(CACNA2D1):c.2720C>T (p.Ala907Val)
|
rs1214105842
|
0.00001
|
NM_000722.4(CACNA2D1):c.2728-17A>G
|
rs1794453039
|
0.00001
|
NM_000722.4(CACNA2D1):c.2785A>G (p.Ile929Val)
|
rs774978800
|
0.00001
|
NM_000722.4(CACNA2D1):c.2822G>A (p.Arg941Gln)
|
rs991607267
|
0.00001
|
NM_000722.4(CACNA2D1):c.2847G>A (p.Glu949=)
|
rs139597562
|
0.00001
|
NM_000722.4(CACNA2D1):c.2867C>A (p.Ser956Tyr)
|
rs768081623
|
0.00001
|
NM_000722.4(CACNA2D1):c.294+11A>G
|
rs372555571
|
0.00001
|
NM_000722.4(CACNA2D1):c.2973T>C (p.Phe991=)
|
rs1040607096
|
0.00001
|
NM_000722.4(CACNA2D1):c.3033A>G (p.Thr1011=)
|
rs1300446703
|
0.00001
|
NM_000722.4(CACNA2D1):c.3109C>G (p.Gln1037Glu)
|
rs748929082
|
0.00001
|
NM_000722.4(CACNA2D1):c.3208T>C (p.Trp1070Arg)
|
rs1024010075
|
0.00001
|
NM_000722.4(CACNA2D1):c.341G>T (p.Arg114Ile)
|
rs1243465087
|
0.00001
|
NM_000722.4(CACNA2D1):c.354+20A>G
|
rs753020973
|
0.00001
|
NM_000722.4(CACNA2D1):c.394G>T (p.Asp132Tyr)
|
rs749965891
|
0.00001
|
NM_000722.4(CACNA2D1):c.435A>G (p.Ile145Met)
|
rs756765026
|
0.00001
|
NM_000722.4(CACNA2D1):c.45A>G (p.Gln15=)
|
rs771243374
|
0.00001
|
NM_000722.4(CACNA2D1):c.498C>T (p.Val166=)
|
rs774323684
|
0.00001
|
NM_000722.4(CACNA2D1):c.525C>A (p.Gly175=)
|
rs766849009
|
0.00001
|
NM_000722.4(CACNA2D1):c.591C>T (p.Arg197=)
|
rs749757910
|
0.00001
|
NM_000722.4(CACNA2D1):c.658+20A>G
|
rs771189795
|
0.00001
|
NM_000722.4(CACNA2D1):c.658+8C>T
|
rs548109932
|
0.00001
|
NM_000722.4(CACNA2D1):c.659-8T>G
|
rs773518022
|
0.00001
|
NM_000722.4(CACNA2D1):c.66G>A (p.Ser22=)
|
rs995732237
|
0.00001
|
NM_000722.4(CACNA2D1):c.68C>T (p.Ser23Leu)
|
rs532261094
|
0.00001
|
NM_000722.4(CACNA2D1):c.735C>T (p.Ile245=)
|
rs1281680153
|
0.00001
|
NM_000722.4(CACNA2D1):c.75G>A (p.Glu25=)
|
rs199857487
|
0.00001
|
NM_000722.4(CACNA2D1):c.779+10T>C
|
rs765637188
|
0.00001
|
NM_000722.4(CACNA2D1):c.810A>C (p.Lys270Asn)
|
rs779135778
|
0.00001
|
NM_000722.4(CACNA2D1):c.880-10T>C
|
rs1172160373
|
0.00001
|
NM_000722.4(CACNA2D1):c.961G>A (p.Ala321Thr)
|
rs747509072
|
0.00001
|
NM_001037.5(SCN1B):c.133C>T (p.Arg45Cys)
|
rs757554677
|
0.00001
|
NM_001037.5(SCN1B):c.137G>T (p.Arg46Leu)
|
rs1024702691
|
0.00001
|
NM_001037.5(SCN1B):c.13C>A (p.Leu5Met)
|
rs1064796847
|
0.00001
|
NM_001037.5(SCN1B):c.141C>T (p.Ser47=)
|
rs769535020
|
0.00001
|
NM_001037.5(SCN1B):c.150C>T (p.Asn50=)
|
rs147073518
|
0.00001
|
NM_001037.5(SCN1B):c.165C>T (p.Thr55=)
|
rs768325106
|
0.00001
|
NM_001037.5(SCN1B):c.166G>A (p.Glu56Lys)
|
rs774152936
|
0.00001
|
NM_001037.5(SCN1B):c.178C>T (p.Arg60Cys)
|
rs2064221873
|
0.00001
|
NM_001037.5(SCN1B):c.196G>T (p.Glu66Ter)
|
rs1193962006
|
0.00001
|
NM_001037.5(SCN1B):c.207+6C>T
|
rs771917643
|
0.00001
|
NM_001037.5(SCN1B):c.214C>T (p.Arg72Cys)
|
rs746782800
|
0.00001
|
NM_001037.5(SCN1B):c.228G>A (p.Glu76=)
|
rs992954476
|
0.00001
|
NM_001037.5(SCN1B):c.249T>C (p.Asp83=)
|
rs1234271758
|
0.00001
|
NM_001037.5(SCN1B):c.255C>G (p.Arg85=)
|
rs1060501166
|
0.00001
|
NM_001037.5(SCN1B):c.259G>A (p.Glu87Lys)
|
rs121434627
|
0.00001
|
NM_001037.5(SCN1B):c.263G>A (p.Gly88Asp)
|
rs2064227954
|
0.00001
|
NM_001037.5(SCN1B):c.266G>A (p.Arg89His)
|
rs138381632
|
0.00001
|
NM_001037.5(SCN1B):c.273G>A (p.Val91=)
|
rs16969926
|
0.00001
|
NM_001037.5(SCN1B):c.286C>T (p.Arg96Trp)
|
rs368388359
|
0.00001
|
NM_001037.5(SCN1B):c.350G>A (p.Gly117Asp)
|
rs1313744180
|
0.00001
|
NM_001037.5(SCN1B):c.357C>T (p.Tyr119=)
|
rs1266621411
|
0.00001
|
NM_001037.5(SCN1B):c.373C>T (p.Arg125Cys)
|
rs1135401736
|
0.00001
|
NM_001037.5(SCN1B):c.374G>A (p.Arg125His)
|
rs759839781
|
0.00001
|
NM_001037.5(SCN1B):c.379C>T (p.Leu127Phe)
|
rs2064229215
|
0.00001
|
NM_001037.5(SCN1B):c.387C>T (p.Phe129=)
|
rs891588693
|
0.00001
|
NM_001037.5(SCN1B):c.388G>A (p.Glu130Lys)
|
rs1351632820
|
0.00001
|
NM_001037.5(SCN1B):c.38T>C (p.Leu13Pro)
|
rs786205834
|
0.00001
|
NM_001037.5(SCN1B):c.395A>G (p.Tyr132Cys)
|
rs1265232012
|
0.00001
|
NM_001037.5(SCN1B):c.396C>T (p.Tyr132=)
|
rs181115510
|
0.00001
|
NM_001037.5(SCN1B):c.3G>C (p.Met1Ile)
|
rs2064208424
|
0.00001
|
NM_001037.5(SCN1B):c.40+7G>T
|
rs1600361053
|
0.00001
|
NM_001037.5(SCN1B):c.405C>G (p.Asn135Lys)
|
rs372630267
|
0.00001
|
NM_001037.5(SCN1B):c.41-14T>C
|
rs778258172
|
0.00001
|
NM_001037.5(SCN1B):c.41-8C>T
|
rs2064220267
|
0.00001
|
NM_001037.5(SCN1B):c.448+103C>T
|
rs372041274
|
0.00001
|
NM_001037.5(SCN1B):c.448+123C>T
|
rs771174760
|
0.00001
|
NM_001037.5(SCN1B):c.448+124G>A
|
rs367608185
|
0.00001
|
NM_001037.5(SCN1B):c.448+125G>T
|
rs2064231271
|
0.00001
|
NM_001037.5(SCN1B):c.448+126G>T
|
rs746419159
|
0.00001
|
NM_001037.5(SCN1B):c.448+127C>T
|
rs770344365
|
0.00001
|
NM_001037.5(SCN1B):c.448+137G>A
|
rs1220622612
|
0.00001
|
NM_001037.5(SCN1B):c.448+151C>A
|
rs1060501167
|
0.00001
|
NM_001037.5(SCN1B):c.448+161C>A
|
rs1477139588
|
0.00001
|
NM_001037.5(SCN1B):c.448+163A>G
|
rs761312032
|
0.00001
|
NM_001037.5(SCN1B):c.448+192C>T
|
rs72558027
|
0.00001
|
NM_001037.5(SCN1B):c.448+199G>A
|
rs946927516
|
0.00001
|
NM_001037.5(SCN1B):c.448+205del
|
rs764848712
|
0.00001
|
NM_001037.5(SCN1B):c.448+215C>G
|
rs1015574605
|
0.00001
|
NM_001037.5(SCN1B):c.448+226G>A
|
rs757396314
|
0.00001
|
NM_001037.5(SCN1B):c.448+230C>T
|
rs769132369
|
0.00001
|
NM_001037.5(SCN1B):c.448+244A>T
|
rs1191213109
|
0.00001
|
NM_001037.5(SCN1B):c.448+252C>T
|
rs374235844
|
0.00001
|
NM_001037.5(SCN1B):c.448+270T>C
|
rs1173518227
|
0.00001
|
NM_001037.5(SCN1B):c.448+295G>T
|
rs786205828
|
0.00001
|
NM_001037.5(SCN1B):c.448+310T>C
|
rs1230072181
|
0.00001
|
NM_001037.5(SCN1B):c.448+346G>A
|
rs76302703
|
0.00001
|
NM_001037.5(SCN1B):c.448+354G>A
|
rs752552401
|
0.00001
|
NM_001037.5(SCN1B):c.448+45G>A
|
rs762453360
|
0.00001
|
NM_001037.5(SCN1B):c.448+77C>T
|
rs2064230789
|
0.00001
|
NM_001037.5(SCN1B):c.448+7C>T
|
rs748379474
|
0.00001
|
NM_001037.5(SCN1B):c.448+88G>A
|
rs267607028
|
0.00001
|
NM_001037.5(SCN1B):c.448+92C>A
|
rs750396627
|
0.00001
|
NM_001037.5(SCN1B):c.448G>A (p.Ala150Thr)
|
rs1034016541
|
0.00001
|
NM_001037.5(SCN1B):c.506T>C (p.Val169Ala)
|
rs1487883672
|
0.00001
|
NM_001037.5(SCN1B):c.523G>A (p.Val175Met)
|
rs776213428
|
0.00001
|
NM_001037.5(SCN1B):c.542G>A (p.Cys181Tyr)
|
rs1173931729
|
0.00001
|
NM_001037.5(SCN1B):c.54C>T (p.Cys18=)
|
rs1005312276
|
0.00001
|
NM_001037.5(SCN1B):c.560C>A (p.Ala187Asp)
|
rs749338180
|
0.00001
|
NM_001037.5(SCN1B):c.571A>C (p.Thr191Pro)
|
rs765702440
|
0.00001
|
NM_001037.5(SCN1B):c.594G>A (p.Ser198=)
|
rs112564234
|
0.00001
|
NM_001037.5(SCN1B):c.621C>T (p.Ser207=)
|
rs1378669075
|
0.00001
|
NM_001037.5(SCN1B):c.640G>A (p.Val214Ile)
|
rs77106213
|
0.00001
|
NM_001037.5(SCN1B):c.69G>C (p.Glu23Asp)
|
rs762553865
|
0.00001
|
NM_001037.5(SCN1B):c.73G>A (p.Asp25Asn)
|
rs786205837
|
0.00001
|
NM_001037.5(SCN1B):c.85G>A (p.Glu29Lys)
|
rs767384862
|
0.00001
|
NM_001040151.2(SCN3B):c.260C>G (p.Pro87Arg)
|
rs371050389
|
0.00001
|
NM_001040151.2(SCN3B):c.309G>A (p.Val103=)
|
rs775194985
|
0.00001
|
NM_001040151.2(SCN3B):c.389C>T (p.Ala130Val)
|
rs587777556
|
0.00001
|
NM_001040151.2(SCN3B):c.392A>G (p.His131Arg)
|
rs1457138925
|
0.00001
|
NM_001040151.2(SCN3B):c.396G>T (p.Arg132=)
|
rs752593287
|
0.00001
|
NM_001040151.2(SCN3B):c.410C>T (p.Thr137Met)
|
rs750476444
|
0.00001
|
NM_001040151.2(SCN3B):c.55+7A>G
|
rs1057522984
|
0.00001
|
NM_001040151.2(SCN3B):c.584+2dup
|
rs1265045446
|
0.00001
|
NM_001040151.2(SCN3B):c.632T>G (p.Val211Gly)
|
rs750969469
|
0.00001
|
NM_001040151.2(SCN3B):c.66C>T (p.Cys22=)
|
rs1487947786
|
0.00001
|
NM_001040151.2(SCN3B):c.6T>C (p.Pro2=)
|
rs769826959
|
0.00001
|
NM_001377540.1(SLMAP):c.*38C>T
|
rs771357380
|
0.00001
|
NM_001377540.1(SLMAP):c.*55G>A
|
rs1210310709
|
0.00001
|
NM_001377540.1(SLMAP):c.1036A>G (p.Ile346Val)
|
rs945147965
|
0.00001
|
NM_001377540.1(SLMAP):c.1048G>A (p.Glu350Lys)
|
rs1205218778
|
0.00001
|
NM_001377540.1(SLMAP):c.1065G>A (p.Glu355=)
|
rs1235811115
|
0.00001
|
NM_001377540.1(SLMAP):c.1094C>A (p.Ala365Asp)
|
rs375002159
|
0.00001
|
NM_001377540.1(SLMAP):c.1109C>G (p.Thr370Ser)
|
rs766605023
|
0.00001
|
NM_001377540.1(SLMAP):c.1261G>A (p.Gly421Arg)
|
rs1203771969
|
0.00001
|
NM_001377540.1(SLMAP):c.1271C>T (p.Thr424Ile)
|
rs1423544190
|
0.00001
|
NM_001377540.1(SLMAP):c.1300+4A>G
|
rs1317261965
|
0.00001
|
NM_001377540.1(SLMAP):c.1334C>T (p.Ala445Val)
|
rs757740736
|
0.00001
|
NM_001377540.1(SLMAP):c.1354T>C (p.Ser452Pro)
|
rs373548009
|
0.00001
|
NM_001377540.1(SLMAP):c.1361-19T>G
|
rs1426844517
|
0.00001
|
NM_001377540.1(SLMAP):c.1390T>A (p.Phe464Ile)
|
rs772143236
|
0.00001
|
NM_001377540.1(SLMAP):c.1449A>G (p.Gln483=)
|
rs1351268773
|
0.00001
|
NM_001377540.1(SLMAP):c.1527A>G (p.Glu509=)
|
rs148943229
|
0.00001
|
NM_001377540.1(SLMAP):c.1624+10A>G
|
rs2096608823
|
0.00001
|
NM_001377540.1(SLMAP):c.1690G>A (p.Val564Ile)
|
rs570222284
|
0.00001
|
NM_001377540.1(SLMAP):c.1700-5T>C
|
rs1056223038
|
0.00001
|
NM_001377540.1(SLMAP):c.1810C>T (p.Leu604Phe)
|
rs777679999
|
0.00001
|
NM_001377540.1(SLMAP):c.1843C>T (p.Arg615Trp)
|
rs1379169914
|
0.00001
|
NM_001377540.1(SLMAP):c.1919C>T (p.Ala640Val)
|
rs762174645
|
0.00001
|
NM_001377540.1(SLMAP):c.198+10C>T
|
rs1362577656
|
0.00001
|
NM_001377540.1(SLMAP):c.1998A>G (p.Arg666=)
|
rs537444516
|
0.00001
|
NM_001377540.1(SLMAP):c.2117G>A (p.Arg706Gln)
|
rs762620820
|
0.00001
|
NM_001377540.1(SLMAP):c.2167A>G (p.Ser723Gly)
|
rs764100894
|
0.00001
|
NM_001377540.1(SLMAP):c.2187A>G (p.Gln729=)
|
rs1201304827
|
0.00001
|
NM_001377540.1(SLMAP):c.2213A>T (p.Gln738Leu)
|
rs754097857
|
0.00001
|
NM_001377540.1(SLMAP):c.2235G>C (p.Gln745His)
|
rs758343458
|
0.00001
|
NM_001377540.1(SLMAP):c.2268T>C (p.Leu756=)
|
rs781668489
|
0.00001
|
NM_001377540.1(SLMAP):c.2286C>A (p.Asn762Lys)
|
rs975284095
|
0.00001
|
NM_001377540.1(SLMAP):c.2310+7C>T
|
rs770809062
|
0.00001
|
NM_001377540.1(SLMAP):c.2394G>T (p.Glu798Asp)
|
rs750893840
|
0.00001
|
NM_001377540.1(SLMAP):c.304A>G (p.Ile102Val)
|
rs756212703
|
0.00001
|
NM_001377540.1(SLMAP):c.346+4C>T
|
rs201859602
|
0.00001
|
NM_001377540.1(SLMAP):c.390A>G (p.Pro130=)
|
rs1201002593
|
0.00001
|
NM_001377540.1(SLMAP):c.412C>T (p.Arg138Cys)
|
rs748820617
|
0.00001
|
NM_001377540.1(SLMAP):c.480G>C (p.Met160Ile)
|
rs770086716
|
0.00001
|
NM_001377540.1(SLMAP):c.519+6A>C
|
rs2094439140
|
0.00001
|
NM_001377540.1(SLMAP):c.532C>T (p.Arg178Trp)
|
rs766644866
|
0.00001
|
NM_001377540.1(SLMAP):c.563C>T (p.Thr188Met)
|
rs763740777
|
0.00001
|
NM_001377540.1(SLMAP):c.572G>A (p.Arg191Gln)
|
rs756779633
|
0.00001
|
NM_001377540.1(SLMAP):c.688-15T>C
|
rs1245639315
|
0.00001
|
NM_001377540.1(SLMAP):c.723A>G (p.Ile241Met)
|
rs760182153
|
0.00001
|
NM_001377540.1(SLMAP):c.824T>C (p.Val275Ala)
|
rs138336324
|
0.00001
|
NM_001377540.1(SLMAP):c.828+12A>G
|
rs1182553972
|
0.00001
|
NM_001377540.1(SLMAP):c.849A>G (p.Glu283=)
|
rs749680088
|
0.00001
|
NM_001377540.1(SLMAP):c.880G>A (p.Glu294Lys)
|
rs770596419
|
0.00001
|
NM_001377540.1(SLMAP):c.966+7A>G
|
rs769226967
|
0.00001
|
NM_004982.4(KCNJ8):c.1054C>T (p.Arg352Trp)
|
rs556299317
|
0.00001
|
NM_004982.4(KCNJ8):c.1145A>G (p.Lys382Arg)
|
rs752063865
|
0.00001
|
NM_004982.4(KCNJ8):c.1166A>G (p.Asn389Ser)
|
rs368674776
|
0.00001
|
NM_004982.4(KCNJ8):c.12A>G (p.Arg4=)
|
rs775249538
|
0.00001
|
NM_004982.4(KCNJ8):c.225C>T (p.Ile75=)
|
rs1940806660
|
0.00001
|
NM_004982.4(KCNJ8):c.243C>T (p.Leu81=)
|
rs771727850
|
0.00001
|
NM_004982.4(KCNJ8):c.352A>G (p.Thr118Ala)
|
rs761526890
|
0.00001
|
NM_004982.4(KCNJ8):c.601G>A (p.Val201Ile)
|
rs750317966
|
0.00001
|
NM_004982.4(KCNJ8):c.636G>A (p.Val212=)
|
rs1203539861
|
0.00001
|
NM_004982.4(KCNJ8):c.676C>T (p.Arg226Cys)
|
rs763650307
|
0.00001
|
NM_004982.4(KCNJ8):c.701C>T (p.Thr234Ile)
|
rs369660507
|
0.00001
|
NM_004982.4(KCNJ8):c.720G>A (p.Val240=)
|
rs876661349
|
0.00001
|
NM_004982.4(KCNJ8):c.76C>T (p.Arg26Cys)
|
rs1341531219
|
0.00001
|
NM_004982.4(KCNJ8):c.786G>A (p.Val262=)
|
rs768927826
|
0.00001
|
NM_004982.4(KCNJ8):c.967C>T (p.Arg323Cys)
|
rs764215606
|
0.00001
|
NM_005472.5(KCNE3):c.113G>A (p.Gly38Glu)
|
rs757172223
|
0.00001
|
NM_005472.5(KCNE3):c.150A>T (p.Leu50=)
|
rs772767562
|
0.00001
|
NM_005472.5(KCNE3):c.194T>C (p.Met65Thr)
|
rs1485350191
|
0.00001
|
NM_005472.5(KCNE3):c.21G>A (p.Thr7=)
|
rs201582585
|
0.00001
|
NM_005472.5(KCNE3):c.222C>G (p.Ser74Arg)
|
rs760938276
|
0.00001
|
NM_005472.5(KCNE3):c.237C>T (p.Tyr79=)
|
rs768106696
|
0.00001
|
NM_005472.5(KCNE3):c.67G>C (p.Ala23Pro)
|
rs759641427
|
0.00001
|
NM_005477.3(HCN4):c.1027A>G (p.Met343Val)
|
rs185719200
|
0.00001
|
NM_005477.3(HCN4):c.1073T>C (p.Ile358Thr)
|
rs774060688
|
0.00001
|
NM_005477.3(HCN4):c.1095G>A (p.Ser365=)
|
rs778276793
|
0.00001
|
NM_005477.3(HCN4):c.1115G>A (p.Arg372Gln)
|
rs748658688
|
0.00001
|
NM_005477.3(HCN4):c.1132C>T (p.Arg378Cys)
|
rs758468167
|
0.00001
|
NM_005477.3(HCN4):c.1162C>T (p.Leu388=)
|
rs1158045945
|
0.00001
|
NM_005477.3(HCN4):c.1186C>A (p.Arg396=)
|
rs750479244
|
0.00001
|
NM_005477.3(HCN4):c.1210-12C>T
|
rs755303878
|
0.00001
|
NM_005477.3(HCN4):c.1227C>T (p.Tyr409=)
|
rs562792789
|
0.00001
|
NM_005477.3(HCN4):c.1239C>T (p.Ser413=)
|
rs756452700
|
0.00001
|
NM_005477.3(HCN4):c.124G>C (p.Asp42His)
|
rs752597565
|
0.00001
|
NM_005477.3(HCN4):c.128C>T (p.Pro43Leu)
|
rs759329385
|
0.00001
|
NM_005477.3(HCN4):c.1297G>A (p.Gly433Ser)
|
rs573588965
|
0.00001
|
NM_005477.3(HCN4):c.1331A>T (p.Asp444Val)
|
rs1444329166
|
0.00001
|
NM_005477.3(HCN4):c.134G>T (p.Arg45Leu)
|
rs1416460262
|
0.00001
|
NM_005477.3(HCN4):c.1372-12G>A
|
rs777979089
|
0.00001
|
NM_005477.3(HCN4):c.1402G>A (p.Ala468Thr)
|
rs372632530
|
0.00001
|
NM_005477.3(HCN4):c.1403C>T (p.Ala468Val)
|
rs760413254
|
0.00001
|
NM_005477.3(HCN4):c.1404G>A (p.Ala468=)
|
rs764767880
|
0.00001
|
NM_005477.3(HCN4):c.1444G>C (p.Gly482Arg)
|
rs794727637
|
0.00001
|
NM_005477.3(HCN4):c.1447C>T (p.Arg483Trp)
|
rs1304145729
|
0.00001
|
NM_005477.3(HCN4):c.1454C>T (p.Ala485Val)
|
rs1454748709
|
0.00001
|
NM_005477.3(HCN4):c.1459G>A (p.Val487Met)
|
rs202037304
|
0.00001
|
NM_005477.3(HCN4):c.1465A>G (p.Met489Val)
|
rs1157049194
|
0.00001
|
NM_005477.3(HCN4):c.1473C>T (p.Asp491=)
|
rs773250829
|
0.00001
|
NM_005477.3(HCN4):c.1474G>A (p.Val492Ile)
|
rs772144022
|
0.00001
|
NM_005477.3(HCN4):c.1491C>T (p.Leu497=)
|
rs1260804406
|
0.00001
|
NM_005477.3(HCN4):c.152G>A (p.Arg51Gln)
|
rs1425211418
|
0.00001
|
NM_005477.3(HCN4):c.1560G>A (p.Leu520=)
|
rs200033529
|
0.00001
|
NM_005477.3(HCN4):c.1563C>T (p.Asp521=)
|
rs201999732
|
0.00001
|
NM_005477.3(HCN4):c.1571G>A (p.Arg524Gln)
|
rs199852438
|
0.00001
|
NM_005477.3(HCN4):c.1576C>G (p.Gln526Glu)
|
rs1474216387
|
0.00001
|
NM_005477.3(HCN4):c.1590+10C>T
|
rs2042920237
|
0.00001
|
NM_005477.3(HCN4):c.1590+6T>A
|
rs1040178011
|
0.00001
|
NM_005477.3(HCN4):c.1591-7G>A
|
rs1439335943
|
0.00001
|
NM_005477.3(HCN4):c.1593C>T (p.Tyr531=)
|
rs958995249
|
0.00001
|
NM_005477.3(HCN4):c.159G>A (p.Leu53=)
|
rs1474714169
|
0.00001
|
NM_005477.3(HCN4):c.1612A>G (p.Met538Val)
|
rs375571257
|
0.00001
|
NM_005477.3(HCN4):c.1648C>T (p.Arg550Cys)
|
rs150691273
|
0.00001
|
NM_005477.3(HCN4):c.1657G>A (p.Asp553Asn)
|
rs104894485
|
0.00001
|
NM_005477.3(HCN4):c.1661A>G (p.Tyr554Cys)
|
rs767926374
|
0.00001
|
NM_005477.3(HCN4):c.1693G>A (p.Asp565Asn)
|
rs201811340
|
0.00001
|
NM_005477.3(HCN4):c.1748A>G (p.Asn583Ser)
|
rs1204195890
|
0.00001
|
NM_005477.3(HCN4):c.1760G>A (p.Arg587Gln)
|
rs761600737
|
0.00001
|
NM_005477.3(HCN4):c.1796C>T (p.Ala599Val)
|
rs775019344
|
0.00001
|
NM_005477.3(HCN4):c.17C>T (p.Pro6Leu)
|
rs772656493
|
0.00001
|
NM_005477.3(HCN4):c.1820T>C (p.Met607Thr)
|
rs1483177160
|
0.00001
|
NM_005477.3(HCN4):c.1840G>A (p.Glu614Lys)
|
rs201319883
|
0.00001
|
NM_005477.3(HCN4):c.1854T>C (p.Pro618=)
|
rs900143890
|
0.00001
|
NM_005477.3(HCN4):c.186G>A (p.Ala62=)
|
rs1196730430
|
0.00001
|
NM_005477.3(HCN4):c.1896G>A (p.Met632Ile)
|
rs200737571
|
0.00001
|
NM_005477.3(HCN4):c.1923C>T (p.Ser641=)
|
rs748573477
|
0.00001
|
NM_005477.3(HCN4):c.1953G>A (p.Lys651=)
|
rs2042889888
|
0.00001
|
NM_005477.3(HCN4):c.1959C>T (p.Ala653=)
|
rs371293769
|
0.00001
|
NM_005477.3(HCN4):c.1978+11C>T
|
rs1370545147
|
0.00001
|
NM_005477.3(HCN4):c.1978+8A>G
|
rs1057522491
|
0.00001
|
NM_005477.3(HCN4):c.1987C>A (p.Leu663Met)
|
rs1265876338
|
0.00001
|
NM_005477.3(HCN4):c.198G>A (p.Glu66=)
|
rs772890780
|
0.00001
|
NM_005477.3(HCN4):c.1996C>T (p.Arg666Trp)
|
rs199943122
|
0.00001
|
NM_005477.3(HCN4):c.2003G>A (p.Arg668Gln)
|
rs757268783
|
0.00001
|
NM_005477.3(HCN4):c.2026G>A (p.Asp676Asn)
|
rs145134839
|
0.00001
|
NM_005477.3(HCN4):c.2028C>A (p.Asp676Glu)
|
rs1060500102
|
0.00001
|
NM_005477.3(HCN4):c.202C>G (p.Arg68Gly)
|
rs962306052
|
0.00001
|
NM_005477.3(HCN4):c.2033A>G (p.Tyr678Cys)
|
rs1449535764
|
0.00001
|
NM_005477.3(HCN4):c.2053A>C (p.Ser685Arg)
|
rs1161776375
|
0.00001
|
NM_005477.3(HCN4):c.2055C>T (p.Ser685=)
|
rs886042819
|
0.00001
|
NM_005477.3(HCN4):c.2064C>T (p.Asn688=)
|
rs764646636
|
0.00001
|
NM_005477.3(HCN4):c.2092A>G (p.Met698Val)
|
rs1181444062
|
0.00001
|
NM_005477.3(HCN4):c.209C>T (p.Ser70Leu)
|
rs771533338
|
0.00001
|
NM_005477.3(HCN4):c.2112G>A (p.Glu704=)
|
rs746156652
|
0.00001
|
NM_005477.3(HCN4):c.2121G>A (p.Ala707=)
|
rs1354885005
|
0.00001
|
NM_005477.3(HCN4):c.2139C>A (p.Arg713=)
|
rs1479702931
|
0.00001
|
NM_005477.3(HCN4):c.2151G>C (p.Lys717Asn)
|
rs1360972645
|
0.00001
|
NM_005477.3(HCN4):c.216C>G (p.Leu72=)
|
rs1368728523
|
0.00001
|
NM_005477.3(HCN4):c.2182G>A (p.Asp728Asn)
|
rs200468312
|
0.00001
|
NM_005477.3(HCN4):c.2198T>C (p.Val733Ala)
|
rs1482088586
|
0.00001
|
NM_005477.3(HCN4):c.2255T>C (p.Met752Thr)
|
rs768773295
|
0.00001
|
NM_005477.3(HCN4):c.225G>A (p.Ala75=)
|
rs1331070073
|
0.00001
|
NM_005477.3(HCN4):c.2260C>T (p.His754Tyr)
|
rs1323887002
|
0.00001
|
NM_005477.3(HCN4):c.2265C>T (p.Cys755=)
|
rs959292495
|
0.00001
|
NM_005477.3(HCN4):c.2267C>T (p.Ala756Val)
|
rs745617328
|
0.00001
|
NM_005477.3(HCN4):c.2268G>A (p.Ala756=)
|
rs781114942
|
0.00001
|
NM_005477.3(HCN4):c.2273G>A (p.Arg758His)
|
rs373284500
|
0.00001
|
NM_005477.3(HCN4):c.228C>T (p.Asp76=)
|
rs2043137744
|
0.00001
|
NM_005477.3(HCN4):c.2309C>T (p.Thr770Met)
|
rs763021264
|
0.00001
|
NM_005477.3(HCN4):c.231C>T (p.Ser77=)
|
rs2043137730
|
0.00001
|
NM_005477.3(HCN4):c.2326C>A (p.Pro776Thr)
|
rs148714049
|
0.00001
|
NM_005477.3(HCN4):c.2327C>T (p.Pro776Leu)
|
rs1008825259
|
0.00001
|
NM_005477.3(HCN4):c.2328G>A (p.Pro776=)
|
rs1452483960
|
0.00001
|
NM_005477.3(HCN4):c.2349G>A (p.Gln783=)
|
rs746658574
|
0.00001
|
NM_005477.3(HCN4):c.2356G>A (p.Ala786Thr)
|
rs771516987
|
0.00001
|
NM_005477.3(HCN4):c.2377A>C (p.Ile793Leu)
|
rs1302650781
|
0.00001
|
NM_005477.3(HCN4):c.2382C>G (p.Ala794=)
|
rs1399387925
|
0.00001
|
NM_005477.3(HCN4):c.2385C>T (p.Leu795=)
|
rs878854773
|
0.00001
|
NM_005477.3(HCN4):c.2399G>A (p.Arg800His)
|
rs375180021
|
0.00001
|
NM_005477.3(HCN4):c.2401C>T (p.Leu801=)
|
rs898537235
|
0.00001
|
NM_005477.3(HCN4):c.2408C>T (p.Ala803Val)
|
rs764336375
|
0.00001
|
NM_005477.3(HCN4):c.2422C>T (p.Pro808Ser)
|
rs2042879557
|
0.00001
|
NM_005477.3(HCN4):c.2429C>T (p.Pro810Leu)
|
rs2042879478
|
0.00001
|
NM_005477.3(HCN4):c.2433A>G (p.Gly811=)
|
rs1299208551
|
0.00001
|
NM_005477.3(HCN4):c.2437G>A (p.Gly813Arg)
|
rs766096127
|
0.00001
|
NM_005477.3(HCN4):c.2451C>T (p.Leu817=)
|
rs1167668657
|
0.00001
|
NM_005477.3(HCN4):c.2452G>A (p.Gly818Ser)
|
rs1427767002
|
0.00001
|
NM_005477.3(HCN4):c.2457C>T (p.Ala819=)
|
rs547297597
|
0.00001
|
NM_005477.3(HCN4):c.2470A>G (p.Arg824Gly)
|
rs1404251013
|
0.00001
|
NM_005477.3(HCN4):c.2493C>A (p.Ser831=)
|
rs1372157927
|
0.00001
|
NM_005477.3(HCN4):c.2495T>C (p.Leu832Pro)
|
rs1404692878
|
0.00001
|
NM_005477.3(HCN4):c.2508G>A (p.Ala836=)
|
rs766293595
|
0.00001
|
NM_005477.3(HCN4):c.2517C>T (p.Ser839=)
|
rs372150073
|
0.00001
|
NM_005477.3(HCN4):c.2523G>A (p.Ser841=)
|
rs768157473
|
0.00001
|
NM_005477.3(HCN4):c.2526C>T (p.Pro842=)
|
rs201499694
|
0.00001
|
NM_005477.3(HCN4):c.2527G>A (p.Ala843Thr)
|
rs777023781
|
0.00001
|
NM_005477.3(HCN4):c.2545G>T (p.Val849Leu)
|
rs202138767
|
0.00001
|
NM_005477.3(HCN4):c.2563T>C (p.Ser855Pro)
|
rs779963031
|
0.00001
|
NM_005477.3(HCN4):c.2630C>T (p.Ser877Leu)
|
rs1265789896
|
0.00001
|
NM_005477.3(HCN4):c.2653G>A (p.Gly885Arg)
|
rs757066783
|
0.00001
|
NM_005477.3(HCN4):c.2670C>G (p.Pro890=)
|
rs1447571299
|
0.00001
|
NM_005477.3(HCN4):c.2711T>C (p.Ile904Thr)
|
rs1179112808
|
0.00001
|
NM_005477.3(HCN4):c.2716G>A (p.Gly906Arg)
|
rs373572497
|
0.00001
|
NM_005477.3(HCN4):c.2718G>A (p.Gly906=)
|
rs2042876254
|
0.00001
|
NM_005477.3(HCN4):c.2738C>T (p.Ala913Val)
|
rs777560053
|
0.00001
|
NM_005477.3(HCN4):c.2744G>A (p.Gly915Asp)
|
rs1306789664
|
0.00001
|
NM_005477.3(HCN4):c.2763C>T (p.Ser921=)
|
rs764751378
|
0.00001
|
NM_005477.3(HCN4):c.2784G>A (p.Pro928=)
|
rs553559079
|
0.00001
|
NM_005477.3(HCN4):c.2786T>C (p.Leu929Pro)
|
rs753331607
|
0.00001
|
NM_005477.3(HCN4):c.2808G>A (p.Pro936=)
|
rs759771224
|
0.00001
|
NM_005477.3(HCN4):c.2810A>T (p.Gln937Leu)
|
rs770942098
|
0.00001
|
NM_005477.3(HCN4):c.2828C>A (p.Pro943His)
|
rs1455977664
|
0.00001
|
NM_005477.3(HCN4):c.2829C>T (p.Pro943=)
|
rs1351103188
|
0.00001
|
NM_005477.3(HCN4):c.2852G>A (p.Gly951Asp)
|
rs2042874743
|
0.00001
|
NM_005477.3(HCN4):c.2889C>T (p.Pro963=)
|
rs1376847040
|
0.00001
|
NM_005477.3(HCN4):c.2902C>T (p.Pro968Ser)
|
rs759692338
|
0.00001
|
NM_005477.3(HCN4):c.2912G>A (p.Ser971Asn)
|
rs1231727151
|
0.00001
|
NM_005477.3(HCN4):c.2914C>T (p.Pro972Ser)
|
rs771946238
|
0.00001
|
NM_005477.3(HCN4):c.2937C>T (p.Pro979=)
|
rs371549467
|
0.00001
|
NM_005477.3(HCN4):c.2939G>C (p.Gly980Ala)
|
rs367719274
|
0.00001
|
NM_005477.3(HCN4):c.2949C>T (p.Ser983=)
|
rs867765596
|
0.00001
|
NM_005477.3(HCN4):c.2992C>G (p.Pro998Ala)
|
rs761666368
|
0.00001
|
NM_005477.3(HCN4):c.3011C>T (p.Pro1004Leu)
|
rs1486893598
|
0.00001
|
NM_005477.3(HCN4):c.3021G>C (p.Val1007=)
|
rs1461880931
|
0.00001
|
NM_005477.3(HCN4):c.3028G>T (p.Ala1010Ser)
|
rs748634893
|
0.00001
|
NM_005477.3(HCN4):c.3030C>T (p.Ala1010=)
|
rs779428563
|
0.00001
|
NM_005477.3(HCN4):c.3031T>C (p.Ser1011Pro)
|
rs890395300
|
0.00001
|
NM_005477.3(HCN4):c.3045C>T (p.Ser1015=)
|
rs767495892
|
0.00001
|
NM_005477.3(HCN4):c.3059C>T (p.Thr1020Ile)
|
rs764138171
|
0.00001
|
NM_005477.3(HCN4):c.3060T>C (p.Thr1020=)
|
rs1201895951
|
0.00001
|
NM_005477.3(HCN4):c.3062C>T (p.Pro1021Leu)
|
rs1469282261
|
0.00001
|
NM_005477.3(HCN4):c.3064C>T (p.Arg1022Ter)
|
rs762950777
|
0.00001
|
NM_005477.3(HCN4):c.3071G>T (p.Gly1024Val)
|
rs775491475
|
0.00001
|
NM_005477.3(HCN4):c.3106A>G (p.Arg1036Gly)
|
rs1477955790
|
0.00001
|
NM_005477.3(HCN4):c.310G>T (p.Gly104Cys)
|
rs757662055
|
0.00001
|
NM_005477.3(HCN4):c.3126G>A (p.Pro1042=)
|
rs1057521459
|
0.00001
|
NM_005477.3(HCN4):c.3130C>T (p.Arg1044Trp)
|
rs553950644
|
0.00001
|
NM_005477.3(HCN4):c.3135C>T (p.Ala1045=)
|
rs1342751732
|
0.00001
|
NM_005477.3(HCN4):c.3166C>A (p.Pro1056Thr)
|
rs1022382647
|
0.00001
|
NM_005477.3(HCN4):c.3169_3189dup (p.Ala1057_Pro1063dup)
|
rs1486632648
|
0.00001
|
NM_005477.3(HCN4):c.3172T>G (p.Ser1058Ala)
|
rs1064796786
|
0.00001
|
NM_005477.3(HCN4):c.3178C>T (p.Pro1060Ser)
|
rs1160260831
|
0.00001
|
NM_005477.3(HCN4):c.3182C>G (p.Pro1061Arg)
|
rs1010963303
|
0.00001
|
NM_005477.3(HCN4):c.3203G>A (p.Arg1068His)
|
rs776270218
|
0.00001
|
NM_005477.3(HCN4):c.3205C>T (p.Arg1069Trp)
|
rs770658894
|
0.00001
|
NM_005477.3(HCN4):c.3206G>A (p.Arg1069Gln)
|
rs760242560
|
0.00001
|
NM_005477.3(HCN4):c.3219G>A (p.Pro1073=)
|
rs2042870259
|
0.00001
|
NM_005477.3(HCN4):c.3233G>A (p.Arg1078His)
|
rs1429735613
|
0.00001
|
NM_005477.3(HCN4):c.3251A>T (p.Lys1084Met)
|
rs751716200
|
0.00001
|
NM_005477.3(HCN4):c.3261C>T (p.Ser1087=)
|
rs537717251
|
0.00001
|
NM_005477.3(HCN4):c.3276C>T (p.Ala1092=)
|
rs1370521798
|
0.00001
|
NM_005477.3(HCN4):c.3289G>A (p.Gly1097Arg)
|
rs753734843
|
0.00001
|
NM_005477.3(HCN4):c.3294G>A (p.Ala1098=)
|
rs766077921
|
0.00001
|
NM_005477.3(HCN4):c.3304C>T (p.Arg1102Cys)
|
rs760392343
|
0.00001
|
NM_005477.3(HCN4):c.331G>A (p.Gly111Ser)
|
rs758437800
|
0.00001
|
NM_005477.3(HCN4):c.3320A>G (p.His1107Arg)
|
rs761260529
|
0.00001
|
NM_005477.3(HCN4):c.3359C>T (p.Pro1120Leu)
|
rs2042868728
|
0.00001
|
NM_005477.3(HCN4):c.3363G>C (p.Arg1121Ser)
|
rs794727919
|
0.00001
|
NM_005477.3(HCN4):c.3382G>A (p.Gly1128Ser)
|
rs779132775
|
0.00001
|
NM_005477.3(HCN4):c.3388G>A (p.Gly1130Arg)
|
rs1326171404
|
0.00001
|
NM_005477.3(HCN4):c.3405C>T (p.Leu1135=)
|
rs548860628
|
0.00001
|
NM_005477.3(HCN4):c.3412C>G (p.Pro1138Ala)
|
rs915209025
|
0.00001
|
NM_005477.3(HCN4):c.342G>A (p.Gly114=)
|
rs1372997661
|
0.00001
|
NM_005477.3(HCN4):c.3447C>T (p.His1149=)
|
rs773681962
|
0.00001
|
NM_005477.3(HCN4):c.3448G>A (p.Val1150Ile)
|
rs772491303
|
0.00001
|
NM_005477.3(HCN4):c.3468A>G (p.Thr1156=)
|
rs947950341
|
0.00001
|
NM_005477.3(HCN4):c.3487C>A (p.Pro1163Thr)
|
rs779811451
|
0.00001
|
NM_005477.3(HCN4):c.3490C>G (p.Pro1164Ala)
|
rs750255859
|
0.00001
|
NM_005477.3(HCN4):c.3503T>C (p.Phe1168Ser)
|
rs1374291021
|
0.00001
|
NM_005477.3(HCN4):c.3512G>T (p.Arg1171Ile)
|
rs751152874
|
0.00001
|
NM_005477.3(HCN4):c.3513A>G (p.Arg1171=)
|
rs1227703020
|
0.00001
|
NM_005477.3(HCN4):c.3526G>C (p.Gly1176Arg)
|
rs1060500104
|
0.00001
|
NM_005477.3(HCN4):c.3549A>G (p.Gly1183=)
|
rs1412852407
|
0.00001
|
NM_005477.3(HCN4):c.3579G>A (p.Glu1193=)
|
rs1857641203
|
0.00001
|
NM_005477.3(HCN4):c.3609A>G (p.Leu1203=)
|
rs560268041
|
0.00001
|
NM_005477.3(HCN4):c.413C>T (p.Ser138Phe)
|
rs1567801864
|
0.00001
|
NM_005477.3(HCN4):c.433C>G (p.Pro145Ala)
|
rs886043525
|
0.00001
|
NM_005477.3(HCN4):c.453G>A (p.Glu151=)
|
rs1162105115
|
0.00001
|
NM_005477.3(HCN4):c.45C>T (p.Leu15=)
|
rs1331595223
|
0.00001
|
NM_005477.3(HCN4):c.484G>A (p.Ala162Thr)
|
rs1567801801
|
0.00001
|
NM_005477.3(HCN4):c.493C>T (p.Pro165Ser)
|
rs1489387068
|
0.00001
|
NM_005477.3(HCN4):c.516G>A (p.Pro172=)
|
rs772278008
|
0.00001
|
NM_005477.3(HCN4):c.530C>T (p.Ala177Val)
|
rs755045896
|
0.00001
|
NM_005477.3(HCN4):c.539A>C (p.Glu180Ala)
|
rs779906361
|
0.00001
|
NM_005477.3(HCN4):c.548C>G (p.Ser183Trp)
|
rs1016027191
|
0.00001
|
NM_005477.3(HCN4):c.550G>A (p.Val184Met)
|
rs1450435726
|
0.00001
|
NM_005477.3(HCN4):c.577G>T (p.Gly193Cys)
|
rs2043135036
|
0.00001
|
NM_005477.3(HCN4):c.582G>A (p.Ala194=)
|
rs1322055969
|
0.00001
|
NM_005477.3(HCN4):c.585T>G (p.Ala195=)
|
rs748468603
|
0.00001
|
NM_005477.3(HCN4):c.588C>T (p.Ala196=)
|
rs1397945798
|
0.00001
|
NM_005477.3(HCN4):c.594C>G (p.Asp198Glu)
|
rs894325793
|
0.00001
|
NM_005477.3(HCN4):c.595C>A (p.Gln199Lys)
|
rs1055534495
|
0.00001
|
NM_005477.3(HCN4):c.625G>A (p.Gly209Ser)
|
rs756993031
|
0.00001
|
NM_005477.3(HCN4):c.658G>T (p.Ala220Ser)
|
rs953554623
|
0.00001
|
NM_005477.3(HCN4):c.661A>G (p.Met221Val)
|
rs371771170
|
0.00001
|
NM_005477.3(HCN4):c.663G>T (p.Met221Ile)
|
rs1160951266
|
0.00001
|
NM_005477.3(HCN4):c.673G>A (p.Gly225Arg)
|
rs767982466
|
0.00001
|
NM_005477.3(HCN4):c.697A>T (p.Met233Leu)
|
rs749389306
|
0.00001
|
NM_005477.3(HCN4):c.69G>A (p.Ala23=)
|
rs1171174562
|
0.00001
|
NM_005477.3(HCN4):c.6C>G (p.Asp2Glu)
|
rs1230881569
|
0.00001
|
NM_005477.3(HCN4):c.743A>G (p.Lys248Arg)
|
rs191744064
|
0.00001
|
NM_005477.3(HCN4):c.771C>T (p.Pro257=)
|
rs1330443984
|
0.00001
|
NM_005477.3(HCN4):c.783C>A (p.Phe261Leu)
|
rs368583153
|
0.00001
|
NM_005477.3(HCN4):c.785+7G>A
|
rs764868642
|
0.00001
|
NM_005477.3(HCN4):c.785+8_785+10dup
|
rs759445840
|
0.00001
|
NM_005477.3(HCN4):c.829C>T (p.Leu277=)
|
rs1334334457
|
0.00001
|
NM_005477.3(HCN4):c.864G>A (p.Lys288=)
|
rs1296638967
|
0.00001
|
NM_005477.3(HCN4):c.8A>C (p.Lys3Thr)
|
rs1267513363
|
0.00001
|
NM_005477.3(HCN4):c.915C>A (p.Phe305Leu)
|
rs1272107414
|
0.00001
|
NM_005477.3(HCN4):c.91G>A (p.Asp31Asn)
|
rs757500423
|
0.00001
|
NM_005477.3(HCN4):c.943C>T (p.Arg315Cys)
|
rs1340301658
|
0.00001
|
NM_005477.3(HCN4):c.972A>G (p.Thr324=)
|
rs747884744
|
0.00001
|
NM_005477.3(HCN4):c.975G>T (p.Glu325Asp)
|
rs778657724
|
0.00001
|
NM_005477.3(HCN4):c.988C>A (p.Pro330Thr)
|
rs1555477316
|
0.00001
|
NM_005477.3(HCN4):c.989C>T (p.Pro330Leu)
|
rs370442588
|
0.00001
|
NM_005477.3(HCN4):c.994C>T (p.Arg332Trp)
|
rs141185786
|
0.00001
|
NM_006514.4(SCN10A):c.101C>G (p.Thr34Arg)
|
rs1025338659
|
0.00001
|
NM_006514.4(SCN10A):c.1078C>T (p.Arg360Cys)
|
rs773808340
|
0.00001
|
NM_006514.4(SCN10A):c.1080C>T (p.Arg360=)
|
rs375904859
|
0.00001
|
NM_006514.4(SCN10A):c.1260G>A (p.Glu420=)
|
rs1057524558
|
0.00001
|
NM_006514.4(SCN10A):c.1325T>G (p.Leu442Arg)
|
rs1373914068
|
0.00001
|
NM_006514.4(SCN10A):c.1409C>A (p.Ser470Tyr)
|
rs527577666
|
0.00001
|
NM_006514.4(SCN10A):c.1418A>T (p.Asp473Val)
|
rs774806601
|
0.00001
|
NM_006514.4(SCN10A):c.1433G>A (p.Arg478His)
|
rs1553620983
|
0.00001
|
NM_006514.4(SCN10A):c.1435T>C (p.Ser479Pro)
|
rs1245630548
|
0.00001
|
NM_006514.4(SCN10A):c.1469T>C (p.Leu490Pro)
|
rs745630620
|
0.00001
|
NM_006514.4(SCN10A):c.149A>C (p.Lys50Thr)
|
rs757655001
|
0.00001
|
NM_006514.4(SCN10A):c.1513T>C (p.Phe505Leu)
|
rs771671647
|
0.00001
|
NM_006514.4(SCN10A):c.1522C>T (p.Arg508Trp)
|
rs112774699
|
0.00001
|
NM_006514.4(SCN10A):c.1523G>A (p.Arg508Gln)
|
rs368776882
|
0.00001
|
NM_006514.4(SCN10A):c.1529C>T (p.Pro510Leu)
|
rs780315709
|
0.00001
|
NM_006514.4(SCN10A):c.1591G>A (p.Glu531Lys)
|
rs866716316
|
0.00001
|
NM_006514.4(SCN10A):c.159C>T (p.Pro53=)
|
rs1368922713
|
0.00001
|
NM_006514.4(SCN10A):c.1600C>T (p.Arg534Trp)
|
rs542554745
|
0.00001
|
NM_006514.4(SCN10A):c.1605C>T (p.Gly535=)
|
rs746006325
|
0.00001
|
NM_006514.4(SCN10A):c.1649C>T (p.Pro550Leu)
|
rs1466610597
|
0.00001
|
NM_006514.4(SCN10A):c.1711C>A (p.Pro571Thr)
|
rs1243498426
|
0.00001
|
NM_006514.4(SCN10A):c.1715C>T (p.Pro572Leu)
|
rs553784643
|
0.00001
|
NM_006514.4(SCN10A):c.1716G>A (p.Pro572=)
|
rs745939820
|
0.00001
|
NM_006514.4(SCN10A):c.1730T>A (p.Leu577His)
|
rs1060501716
|
0.00001
|
NM_006514.4(SCN10A):c.1740A>G (p.Gly580=)
|
rs748569277
|
0.00001
|
NM_006514.4(SCN10A):c.1801T>C (p.Leu601=)
|
rs1319567180
|
0.00001
|
NM_006514.4(SCN10A):c.1845T>C (p.Ser615=)
|
rs1338965406
|
0.00001
|
NM_006514.4(SCN10A):c.1867+8C>T
|
rs370354229
|
0.00001
|
NM_006514.4(SCN10A):c.1942T>A (p.Cys648Ser)
|
rs1553619038
|
0.00001
|
NM_006514.4(SCN10A):c.1945C>T (p.Pro649Ser)
|
rs747848559
|
0.00001
|
NM_006514.4(SCN10A):c.1959G>A (p.Lys653=)
|
rs1217257967
|
0.00001
|
NM_006514.4(SCN10A):c.1991A>G (p.Asp664Gly)
|
rs1177831483
|
0.00001
|
NM_006514.4(SCN10A):c.1998T>C (p.Phe666=)
|
rs767906427
|
0.00001
|
NM_006514.4(SCN10A):c.2015C>T (p.Thr672Ile)
|
rs759953813
|
0.00001
|
NM_006514.4(SCN10A):c.2017T>C (p.Leu673=)
|
rs541813611
|
0.00001
|
NM_006514.4(SCN10A):c.2064C>T (p.Gly688=)
|
rs758224718
|
0.00001
|
NM_006514.4(SCN10A):c.2079C>T (p.Phe693=)
|
rs746054703
|
0.00001
|
NM_006514.4(SCN10A):c.2099G>A (p.Gly700Asp)
|
rs1250669621
|
0.00001
|
NM_006514.4(SCN10A):c.213A>G (p.Pro71=)
|
rs533136525
|
0.00001
|
NM_006514.4(SCN10A):c.2158G>A (p.Asp720Asn)
|
rs781354273
|
0.00001
|
NM_006514.4(SCN10A):c.2208C>T (p.Ile736=)
|
rs754351607
|
0.00001
|
NM_006514.4(SCN10A):c.2209G>A (p.Val737Ile)
|
rs764654464
|
0.00001
|
NM_006514.4(SCN10A):c.2222T>G (p.Leu741Arg)
|
rs201342036
|
0.00001
|
NM_006514.4(SCN10A):c.2267G>A (p.Arg756Gln)
|
rs746092299
|
0.00001
|
NM_006514.4(SCN10A):c.2287G>A (p.Val763Ile)
|
rs569904203
|
0.00001
|
NM_006514.4(SCN10A):c.2305T>C (p.Ser769Pro)
|
rs1330358186
|
0.00001
|
NM_006514.4(SCN10A):c.2317T>C (p.Leu773=)
|
rs750196938
|
0.00001
|
NM_006514.4(SCN10A):c.2384C>T (p.Ala795Val)
|
rs781527310
|
0.00001
|
NM_006514.4(SCN10A):c.2431G>C (p.Glu811Gln)
|
rs77049337
|
0.00001
|
NM_006514.4(SCN10A):c.2458A>G (p.Ile820Val)
|
rs770101312
|
0.00001
|
NM_006514.4(SCN10A):c.2483C>T (p.Pro828Leu)
|
rs749000689
|
0.00001
|
NM_006514.4(SCN10A):c.2486G>A (p.Arg829His)
|
rs752623537
|
0.00001
|
NM_006514.4(SCN10A):c.2521A>G (p.Ile841Val)
|
rs762119038
|
0.00001
|
NM_006514.4(SCN10A):c.2527T>C (p.Phe843Leu)
|
rs768541787
|
0.00001
|
NM_006514.4(SCN10A):c.252G>A (p.Pro84=)
|
rs1486528454
|
0.00001
|
NM_006514.4(SCN10A):c.2540G>A (p.Cys847Tyr)
|
rs772757323
|
0.00001
|
NM_006514.4(SCN10A):c.2559C>T (p.Asn853=)
|
rs748971093
|
0.00001
|
NM_006514.4(SCN10A):c.257A>G (p.Tyr86Cys)
|
rs1173154320
|
0.00001
|
NM_006514.4(SCN10A):c.2580T>G (p.Val860=)
|
rs754939557
|
0.00001
|
NM_006514.4(SCN10A):c.25G>A (p.Glu9Lys)
|
rs747174454
|
0.00001
|
NM_006514.4(SCN10A):c.2601C>T (p.Leu867=)
|
rs750420726
|
0.00001
|
NM_006514.4(SCN10A):c.2616G>A (p.Thr872=)
|
rs754088416
|
0.00001
|
NM_006514.4(SCN10A):c.2641-15A>T
|
rs780019769
|
0.00001
|
NM_006514.4(SCN10A):c.2641-20C>T
|
rs181869465
|
0.00001
|
NM_006514.4(SCN10A):c.2641-8C>A
|
rs749342215
|
0.00001
|
NM_006514.4(SCN10A):c.2655C>T (p.Phe885=)
|
rs755345820
|
0.00001
|
NM_006514.4(SCN10A):c.2661C>G (p.Ala887=)
|
rs766867806
|
0.00001
|
NM_006514.4(SCN10A):c.2688C>T (p.Asp896=)
|
rs990606927
|
0.00001
|
NM_006514.4(SCN10A):c.270+12T>C
|
rs761698317
|
0.00001
|
NM_006514.4(SCN10A):c.271-8T>C
|
rs546214652
|
0.00001
|
NM_006514.4(SCN10A):c.2710G>A (p.Asp904Asn)
|
rs774493534
|
0.00001
|
NM_006514.4(SCN10A):c.2749A>G (p.Ile917Val)
|
rs995638455
|
0.00001
|
NM_006514.4(SCN10A):c.2764C>T (p.His922Tyr)
|
rs763764330
|
0.00001
|
NM_006514.4(SCN10A):c.2767C>T (p.Arg923Cys)
|
rs267599803
|
0.00001
|
NM_006514.4(SCN10A):c.2817C>T (p.Pro939=)
|
rs374319726
|
0.00001
|
NM_006514.4(SCN10A):c.2833C>T (p.Pro945Ser)
|
rs372907454
|
0.00001
|
NM_006514.4(SCN10A):c.2852T>A (p.Leu951His)
|
rs755728923
|
0.00001
|
NM_006514.4(SCN10A):c.2923C>T (p.Gln975Ter)
|
rs755553717
|
0.00001
|
NM_006514.4(SCN10A):c.2935G>T (p.Gly979Cys)
|
rs752287839
|
0.00001
|
NM_006514.4(SCN10A):c.2939C>T (p.Pro980Leu)
|
rs751340142
|
0.00001
|
NM_006514.4(SCN10A):c.2965G>A (p.Ala989Thr)
|
rs766280701
|
0.00001
|
NM_006514.4(SCN10A):c.2993C>T (p.Pro998Leu)
|
rs775672433
|
0.00001
|
NM_006514.4(SCN10A):c.2T>C (p.Met1Thr)
|
rs749292402
|
0.00001
|
NM_006514.4(SCN10A):c.3000T>A (p.Ala1000=)
|
rs778351672
|
0.00001
|
NM_006514.4(SCN10A):c.3087+2T>C
|
rs765046340
|
0.00001
|
NM_006514.4(SCN10A):c.3087+7G>A
|
rs761835406
|
0.00001
|
NM_006514.4(SCN10A):c.3114G>T (p.Arg1038Ser)
|
rs773394234
|
0.00001
|
NM_006514.4(SCN10A):c.3130A>G (p.Thr1044Ala)
|
rs147093541
|
0.00001
|
NM_006514.4(SCN10A):c.3151G>A (p.Gly1051Arg)
|
rs374447261
|
0.00001
|
NM_006514.4(SCN10A):c.3180C>T (p.Ser1060=)
|
rs1209864756
|
0.00001
|
NM_006514.4(SCN10A):c.319A>T (p.Thr107Ser)
|
rs757050845
|
0.00001
|
NM_006514.4(SCN10A):c.3214C>T (p.Gln1072Ter)
|
rs1458693100
|
0.00001
|
NM_006514.4(SCN10A):c.322C>T (p.Arg108Trp)
|
rs1131691525
|
0.00001
|
NM_006514.4(SCN10A):c.323G>A (p.Arg108Gln)
|
rs141278729
|
0.00001
|
NM_006514.4(SCN10A):c.3243A>G (p.Thr1081=)
|
rs749507043
|
0.00001
|
NM_006514.4(SCN10A):c.3280C>A (p.Pro1094Thr)
|
rs973127854
|
0.00001
|
NM_006514.4(SCN10A):c.3289A>C (p.Ile1097Leu)
|
rs1397301108
|
0.00001
|
NM_006514.4(SCN10A):c.3328G>C (p.Glu1110Gln)
|
rs201871493
|
0.00001
|
NM_006514.4(SCN10A):c.3374G>C (p.Cys1125Ser)
|
rs1481868189
|
0.00001
|
NM_006514.4(SCN10A):c.3409G>A (p.Val1137Met)
|
rs1278228854
|
0.00001
|
NM_006514.4(SCN10A):c.3421G>A (p.Val1141Met)
|
rs112412281
|
0.00001
|
NM_006514.4(SCN10A):c.3476T>A (p.Ile1159Asn)
|
rs777240104
|
0.00001
|
NM_006514.4(SCN10A):c.3479T>C (p.Phe1160Ser)
|
rs2063398350
|
0.00001
|
NM_006514.4(SCN10A):c.3507+10G>A
|
rs767411176
|
0.00001
|
NM_006514.4(SCN10A):c.3509C>A (p.Ala1170Asp)
|
rs267599801
|
0.00001
|
NM_006514.4(SCN10A):c.3521A>G (p.Tyr1174Cys)
|
rs1167279918
|
0.00001
|
NM_006514.4(SCN10A):c.3550G>C (p.Ala1184Pro)
|
rs759842238
|
0.00001
|
NM_006514.4(SCN10A):c.3555G>T (p.Leu1185Phe)
|
rs201025253
|
0.00001
|
NM_006514.4(SCN10A):c.3580A>T (p.Thr1194Ser)
|
rs780945258
|
0.00001
|
NM_006514.4(SCN10A):c.3619G>T (p.Ala1207Ser)
|
rs756162245
|
0.00001
|
NM_006514.4(SCN10A):c.3655del (p.Cys1219fs)
|
rs1559419984
|
0.00001
|
NM_006514.4(SCN10A):c.3667T>C (p.Phe1223Leu)
|
rs1334180362
|
0.00001
|
NM_006514.4(SCN10A):c.3681+8G>T
|
rs761368462
|
0.00001
|
NM_006514.4(SCN10A):c.3682-11C>T
|
rs777336835
|
0.00001
|
NM_006514.4(SCN10A):c.3682-2A>T
|
rs768207163
|
0.00001
|
NM_006514.4(SCN10A):c.3682-9T>G
|
rs1475059290
|
0.00001
|
NM_006514.4(SCN10A):c.3691A>T (p.Ile1231Leu)
|
rs775185585
|
0.00001
|
NM_006514.4(SCN10A):c.3695G>T (p.Ser1232Ile)
|
rs373750985
|
0.00001
|
NM_006514.4(SCN10A):c.3748C>T (p.Arg1250Ter)
|
rs202134330
|
0.00001
|
NM_006514.4(SCN10A):c.3758G>A (p.Arg1253His)
|
rs770705124
|
0.00001
|
NM_006514.4(SCN10A):c.3767G>A (p.Arg1256Gln)
|
rs1280130231
|
0.00001
|
NM_006514.4(SCN10A):c.3776G>A (p.Arg1259Gln)
|
rs957441210
|
0.00001
|
NM_006514.4(SCN10A):c.3802C>T (p.Arg1268Trp)
|
rs766044301
|
0.00001
|
NM_006514.4(SCN10A):c.3804+1G>A
|
rs1363445455
|
0.00001
|
NM_006514.4(SCN10A):c.3829G>A (p.Ala1277Thr)
|
rs1296278088
|
0.00001
|
NM_006514.4(SCN10A):c.3870C>A (p.Ile1290=)
|
rs1371664893
|
0.00001
|
NM_006514.4(SCN10A):c.3890T>G (p.Ile1297Ser)
|
rs978977328
|
0.00001
|
NM_006514.4(SCN10A):c.3942C>T (p.Thr1314=)
|
rs760702095
|
0.00001
|
NM_006514.4(SCN10A):c.4016G>T (p.Gly1339Val)
|
rs1191498319
|
0.00001
|
NM_006514.4(SCN10A):c.4025T>C (p.Phe1342Ser)
|
rs763963972
|
0.00001
|
NM_006514.4(SCN10A):c.4028G>A (p.Trp1343Ter)
|
rs756036768
|
0.00001
|
NM_006514.4(SCN10A):c.406A>G (p.Ile136Val)
|
rs372138097
|
0.00001
|
NM_006514.4(SCN10A):c.4090-14C>T
|
rs985052543
|
0.00001
|
NM_006514.4(SCN10A):c.4092A>C (p.Ala1364=)
|
rs139436496
|
0.00001
|
NM_006514.4(SCN10A):c.410C>T (p.Thr137Met)
|
rs148663098
|
0.00001
|
NM_006514.4(SCN10A):c.4118T>G (p.Met1373Arg)
|
rs1131691400
|
0.00001
|
NM_006514.4(SCN10A):c.4128T>C (p.Ala1376=)
|
rs1060504317
|
0.00001
|
NM_006514.4(SCN10A):c.4138C>T (p.Arg1380Trp)
|
rs371600996
|
0.00001
|
NM_006514.4(SCN10A):c.4141G>A (p.Glu1381Lys)
|
rs1447191624
|
0.00001
|
NM_006514.4(SCN10A):c.4191C>T (p.Tyr1397=)
|
rs983164063
|
0.00001
|
NM_006514.4(SCN10A):c.4217G>A (p.Gly1406Asp)
|
rs201280426
|
0.00001
|
NM_006514.4(SCN10A):c.4245G>A (p.Gly1415=)
|
rs771909114
|
0.00001
|
NM_006514.4(SCN10A):c.4266T>A (p.Asn1422Lys)
|
rs1334461772
|
0.00001
|
NM_006514.4(SCN10A):c.4282-9T>C
|
rs202063632
|
0.00001
|
NM_006514.4(SCN10A):c.4327T>C (p.Tyr1443His)
|
rs762798134
|
0.00001
|
NM_006514.4(SCN10A):c.4376C>T (p.Pro1459Leu)
|
rs757704367
|
0.00001
|
NM_006514.4(SCN10A):c.4379G>A (p.Arg1460Gln)
|
rs369399424
|
0.00001
|
NM_006514.4(SCN10A):c.4387-4T>C
|
rs904974260
|
0.00001
|
NM_006514.4(SCN10A):c.43C>G (p.Arg15Gly)
|
rs754392803
|
0.00001
|
NM_006514.4(SCN10A):c.4431T>A (p.Ala1477=)
|
rs1434035224
|
0.00001
|
NM_006514.4(SCN10A):c.4438A>G (p.Ile1480Val)
|
rs1406169129
|
0.00001
|
NM_006514.4(SCN10A):c.4623G>A (p.Val1541=)
|
rs143688921
|
0.00001
|
NM_006514.4(SCN10A):c.4642G>T (p.Val1548Phe)
|
rs762610159
|
0.00001
|
NM_006514.4(SCN10A):c.4658-18T>A
|
rs781015534
|
0.00001
|
NM_006514.4(SCN10A):c.4658-5T>C
|
rs1378443298
|
0.00001
|
NM_006514.4(SCN10A):c.4663A>T (p.Ile1555Phe)
|
rs754130748
|
0.00001
|
NM_006514.4(SCN10A):c.467T>C (p.Ile156Thr)
|
rs773812695
|
0.00001
|
NM_006514.4(SCN10A):c.4680T>G (p.Leu1560=)
|
rs529845623
|
0.00001
|
NM_006514.4(SCN10A):c.4686A>T (p.Ser1562=)
|
rs2063123381
|
0.00001
|
NM_006514.4(SCN10A):c.470+5G>A
|
rs748885768
|
0.00001
|
NM_006514.4(SCN10A):c.470+7A>G
|
rs1173885296
|
0.00001
|
NM_006514.4(SCN10A):c.4724T>C (p.Ile1575Thr)
|
rs1064796379
|
0.00001
|
NM_006514.4(SCN10A):c.4729C>T (p.Leu1577=)
|
rs757294772
|
0.00001
|
NM_006514.4(SCN10A):c.4744C>T (p.Arg1582Cys)
|
rs569261408
|
0.00001
|
NM_006514.4(SCN10A):c.4763G>A (p.Arg1588Gln)
|
rs376439863
|
0.00001
|
NM_006514.4(SCN10A):c.4766C>T (p.Ala1589Val)
|
rs753004431
|
0.00001
|
NM_006514.4(SCN10A):c.4776G>A (p.Gly1592=)
|
rs765953951
|
0.00001
|
NM_006514.4(SCN10A):c.4783A>G (p.Thr1595Ala)
|
rs747919920
|
0.00001
|
NM_006514.4(SCN10A):c.4791C>T (p.Leu1597=)
|
rs768566944
|
0.00001
|
NM_006514.4(SCN10A):c.4837T>C (p.Leu1613=)
|
rs756300662
|
0.00001
|
NM_006514.4(SCN10A):c.4883G>T (p.Ser1628Ile)
|
rs1279255819
|
0.00001
|
NM_006514.4(SCN10A):c.4892A>G (p.His1631Arg)
|
rs771997067
|
0.00001
|
NM_006514.4(SCN10A):c.4948A>T (p.Ser1650Cys)
|
rs780649338
|
0.00001
|
NM_006514.4(SCN10A):c.4977G>A (p.Thr1659=)
|
rs1376221516
|
0.00001
|
NM_006514.4(SCN10A):c.4979C>T (p.Ser1660Leu)
|
rs998456008
|
0.00001
|
NM_006514.4(SCN10A):c.5036A>T (p.Asp1679Val)
|
rs756686221
|
0.00001
|
NM_006514.4(SCN10A):c.5048C>T (p.Pro1683Leu)
|
rs763674655
|
0.00001
|
NM_006514.4(SCN10A):c.5066G>A (p.Arg1689Lys)
|
rs2063115980
|
0.00001
|
NM_006514.4(SCN10A):c.509T>G (p.Ile170Arg)
|
rs769305453
|
0.00001
|
NM_006514.4(SCN10A):c.5104T>C (p.Phe1702Leu)
|
rs2063115140
|
0.00001
|
NM_006514.4(SCN10A):c.5166G>A (p.Leu1722=)
|
rs1559406425
|
0.00001
|
NM_006514.4(SCN10A):c.5177A>G (p.Asn1726Ser)
|
rs1420941706
|
0.00001
|
NM_006514.4(SCN10A):c.5186C>T (p.Thr1729Met)
|
rs751384151
|
0.00001
|
NM_006514.4(SCN10A):c.5232C>T (p.Phe1744=)
|
rs994269206
|
0.00001
|
NM_006514.4(SCN10A):c.5249A>G (p.Lys1750Arg)
|
rs145589241
|
0.00001
|
NM_006514.4(SCN10A):c.5286T>C (p.Ser1762=)
|
rs750340252
|
0.00001
|
NM_006514.4(SCN10A):c.5301T>G (p.Phe1767Leu)
|
rs2063111131
|
0.00001
|
NM_006514.4(SCN10A):c.5306A>C (p.Asp1769Ala)
|
rs377121469
|
0.00001
|
NM_006514.4(SCN10A):c.5307C>G (p.Asp1769Glu)
|
rs774474141
|
0.00001
|
NM_006514.4(SCN10A):c.5343T>C (p.Asn1781=)
|
rs1350948140
|
0.00001
|
NM_006514.4(SCN10A):c.5355G>A (p.Leu1785=)
|
rs1463206676
|
0.00001
|
NM_006514.4(SCN10A):c.5371C>A (p.Pro1791Thr)
|
rs371803816
|
0.00001
|
NM_006514.4(SCN10A):c.5446G>A (p.Gly1816Arg)
|
rs779692735
|
0.00001
|
NM_006514.4(SCN10A):c.5461C>T (p.Leu1821=)
|
rs2063107674
|
0.00001
|
NM_006514.4(SCN10A):c.5468C>T (p.Ala1823Val)
|
rs1201354997
|
0.00001
|
NM_006514.4(SCN10A):c.5516A>G (p.Tyr1839Cys)
|
rs777591347
|
0.00001
|
NM_006514.4(SCN10A):c.5542T>C (p.Trp1848Arg)
|
rs1575914976
|
0.00001
|
NM_006514.4(SCN10A):c.5587C>T (p.Arg1863Trp)
|
rs370779258
|
0.00001
|
NM_006514.4(SCN10A):c.5588G>A (p.Arg1863Gln)
|
rs191869263
|
0.00001
|
NM_006514.4(SCN10A):c.5589G>A (p.Arg1863=)
|
rs756017969
|
0.00001
|
NM_006514.4(SCN10A):c.5600T>G (p.Leu1867Arg)
|
rs373299553
|
0.00001
|
NM_006514.4(SCN10A):c.5604C>T (p.His1868=)
|
rs1169839381
|
0.00001
|
NM_006514.4(SCN10A):c.5613G>A (p.Met1871Ile)
|
rs370483003
|
0.00001
|
NM_006514.4(SCN10A):c.5626A>G (p.Thr1876Ala)
|
rs759136534
|
0.00001
|
NM_006514.4(SCN10A):c.5629C>T (p.Pro1877Ser)
|
rs770710528
|
0.00001
|
NM_006514.4(SCN10A):c.5661A>G (p.Ala1887=)
|
rs781131021
|
0.00001
|
NM_006514.4(SCN10A):c.5677G>A (p.Gly1893Ser)
|
rs1195353680
|
0.00001
|
NM_006514.4(SCN10A):c.5682T>C (p.Phe1894=)
|
rs758434866
|
0.00001
|
NM_006514.4(SCN10A):c.5700T>A (p.Asn1900Lys)
|
rs764330725
|
0.00001
|
NM_006514.4(SCN10A):c.5739T>C (p.Ser1913=)
|
rs369390668
|
0.00001
|
NM_006514.4(SCN10A):c.5757G>A (p.Pro1919=)
|
rs145340685
|
0.00001
|
NM_006514.4(SCN10A):c.5789A>T (p.Asp1930Val)
|
rs752180138
|
0.00001
|
NM_006514.4(SCN10A):c.5866C>A (p.Pro1956Thr)
|
rs748441157
|
0.00001
|
NM_006514.4(SCN10A):c.607G>A (p.Gly203Ser)
|
rs774347834
|
0.00001
|
NM_006514.4(SCN10A):c.630G>A (p.Gly210=)
|
rs750830318
|
0.00001
|
NM_006514.4(SCN10A):c.635C>T (p.Ser212Leu)
|
rs779471280
|
0.00001
|
NM_006514.4(SCN10A):c.691+3G>A
|
rs2063898424
|
0.00001
|
NM_006514.4(SCN10A):c.692-5C>T
|
rs576031277
|
0.00001
|
NM_006514.4(SCN10A):c.742G>C (p.Asp248His)
|
rs754623438
|
0.00001
|
NM_006514.4(SCN10A):c.753C>G (p.Ile251Met)
|
rs747296872
|
0.00001
|
NM_006514.4(SCN10A):c.760A>T (p.Ile254Phe)
|
rs766143752
|
0.00001
|
NM_006514.4(SCN10A):c.773G>T (p.Ser258Ile)
|
rs758197140
|
0.00001
|
NM_006514.4(SCN10A):c.827G>A (p.Cys276Tyr)
|
rs1251019283
|
0.00001
|
NM_006514.4(SCN10A):c.867C>T (p.Tyr289=)
|
rs1163235946
|
0.00001
|
NM_006514.4(SCN10A):c.883+1G>A
|
rs757136675
|
0.00001
|
NM_006514.4(SCN10A):c.883C>T (p.Pro295Ser)
|
rs371909817
|
0.00001
|
NM_006514.4(SCN10A):c.890T>C (p.Ile297Thr)
|
rs553913580
|
0.00001
|
NM_006514.4(SCN10A):c.903G>A (p.Lys301=)
|
rs750691811
|
0.00001
|
NM_012282.4(KCNE5):c.168C>T (p.Gly56=)
|
rs1934266907
|
0.00001
|
NM_012282.4(KCNE5):c.281C>G (p.Pro94Arg)
|
rs762719236
|
0.00001
|
NM_012282.4(KCNE5):c.285C>T (p.Ser95=)
|
rs750371428
|
0.00001
|
NM_012282.4(KCNE5):c.286C>G (p.Gln96Glu)
|
rs769195237
|
0.00001
|
NM_012282.4(KCNE5):c.304G>A (p.Glu102Lys)
|
rs1397229944
|
0.00001
|
NM_015141.4(GPD1L):c.1009G>C (p.Val337Leu)
|
rs766273195
|
0.00001
|
NM_015141.4(GPD1L):c.1019T>C (p.Met340Thr)
|
rs751063902
|
0.00001
|
NM_015141.4(GPD1L):c.141G>A (p.Val47=)
|
rs769668097
|
0.00001
|
NM_015141.4(GPD1L):c.1A>G (p.Met1Val)
|
rs148643167
|
0.00001
|
NM_015141.4(GPD1L):c.232A>G (p.Met78Val)
|
rs762018216
|
0.00001
|
NM_015141.4(GPD1L):c.264A>C (p.Ala88=)
|
rs528792876
|
0.00001
|
NM_015141.4(GPD1L):c.291C>T (p.His97=)
|
rs1007252272
|
0.00001
|
NM_015141.4(GPD1L):c.298A>G (p.Ile100Val)
|
rs771610382
|
0.00001
|
NM_015141.4(GPD1L):c.318G>C (p.Glu106Asp)
|
rs1700699957
|
0.00001
|
NM_015141.4(GPD1L):c.334C>T (p.Pro112Ser)
|
rs762262112
|
0.00001
|
NM_015141.4(GPD1L):c.344C>T (p.Ala115Val)
|
rs765497074
|
0.00001
|
NM_015141.4(GPD1L):c.376del (p.Glu126fs)
|
rs761698828
|
0.00001
|
NM_015141.4(GPD1L):c.384C>T (p.Pro128=)
|
rs779990114
|
0.00001
|
NM_015141.4(GPD1L):c.385G>A (p.Glu129Lys)
|
rs751477655
|
0.00001
|
NM_015141.4(GPD1L):c.38C>T (p.Ser13Leu)
|
rs770998550
|
0.00001
|
NM_015141.4(GPD1L):c.416G>A (p.Arg139His)
|
rs775043567
|
0.00001
|
NM_015141.4(GPD1L):c.435C>T (p.Asp145=)
|
rs1367336326
|
0.00001
|
NM_015141.4(GPD1L):c.47+1G>A
|
rs1221530760
|
0.00001
|
NM_015141.4(GPD1L):c.475G>A (p.Ala159Thr)
|
rs751567318
|
0.00001
|
NM_015141.4(GPD1L):c.48-4G>T
|
rs759219954
|
0.00001
|
NM_015141.4(GPD1L):c.482A>G (p.Glu161Gly)
|
rs754861753
|
0.00001
|
NM_015141.4(GPD1L):c.505G>A (p.Gly169Ser)
|
rs1446434571
|
0.00001
|
NM_015141.4(GPD1L):c.526G>A (p.Gly176Ser)
|
rs1443878552
|
0.00001
|
NM_015141.4(GPD1L):c.577G>A (p.Val193Ile)
|
rs1237495167
|
0.00001
|
NM_015141.4(GPD1L):c.619-12T>C
|
rs760328411
|
0.00001
|
NM_015141.4(GPD1L):c.630T>C (p.Ala210=)
|
rs373325536
|
0.00001
|
NM_015141.4(GPD1L):c.652G>A (p.Gly218Ser)
|
rs559530222
|
0.00001
|
NM_015141.4(GPD1L):c.671A>G (p.Asn224Ser)
|
rs1332344958
|
0.00001
|
NM_015141.4(GPD1L):c.684C>T (p.Ala228=)
|
rs545047908
|
0.00001
|
NM_015141.4(GPD1L):c.685G>A (p.Val229Ile)
|
rs757614405
|
0.00001
|
NM_015141.4(GPD1L):c.692G>A (p.Arg231His)
|
rs869025436
|
0.00001
|
NM_015141.4(GPD1L):c.726G>A (p.Arg242=)
|
rs72546649
|
0.00001
|
NM_015141.4(GPD1L):c.729C>A (p.Ile243=)
|
rs762306432
|
0.00001
|
NM_015141.4(GPD1L):c.810G>A (p.Gly270=)
|
rs945877751
|
0.00001
|
NM_015141.4(GPD1L):c.818G>A (p.Arg273His)
|
rs774028756
|
0.00001
|
NM_015141.4(GPD1L):c.822G>A (p.Arg274=)
|
rs759180118
|
0.00001
|
NM_015141.4(GPD1L):c.829G>C (p.Glu277Gln)
|
rs775843493
|
0.00001
|
NM_015141.4(GPD1L):c.832G>T (p.Ala278Ser)
|
rs900845107
|
0.00001
|
NM_015141.4(GPD1L):c.846T>A (p.Thr282=)
|
rs376308565
|
0.00001
|
NM_015141.4(GPD1L):c.852+20C>T
|
rs189819292
|
0.00001
|
NM_015141.4(GPD1L):c.878T>C (p.Met293Thr)
|
rs188138719
|
0.00001
|
NM_015141.4(GPD1L):c.890A>G (p.Gln297Arg)
|
rs1358056076
|
0.00001
|
NM_015141.4(GPD1L):c.905C>T (p.Pro302Leu)
|
rs1409253059
|
0.00001
|
NM_015141.4(GPD1L):c.944A>G (p.Lys315Arg)
|
rs1559583375
|
0.00001
|
NM_015141.4(GPD1L):c.947G>C (p.Gly316Ala)
|
rs786204216
|
0.00001
|
NM_015141.4(GPD1L):c.959A>G (p.Lys320Arg)
|
rs769123169
|
0.00001
|
NM_015141.4(GPD1L):c.960-18A>T
|
rs780858620
|
0.00001
|
NM_015141.4(GPD1L):c.977C>A (p.Ala326Glu)
|
rs774304068
|
0.00001
|
NM_015141.4(GPD1L):c.987G>T (p.Gln329His)
|
rs767661465
|
0.00001
|
NM_015141.4(GPD1L):c.997G>A (p.Glu333Lys)
|
rs201799095
|
0.00001
|
NM_199037.3(SCN1B):c.751G>A (p.Val251Ile)
|
rs193922728
|
0.00001
|
NM_201590.3(CACNB2):c.2T>C (p.Met1Thr)
|
rs1401122407
|
0.00001
|
NM_201590.3(CACNB2):c.39C>T (p.Tyr13=)
|
rs1060504916
|
0.00001
|
NM_201596.3(CACNB2):c.1047A>G (p.Ser349=)
|
rs1287275969
|
0.00001
|
NM_201596.3(CACNB2):c.1056G>A (p.Ala352=)
|
rs730880058
|
0.00001
|
NM_201596.3(CACNB2):c.1122C>T (p.Asp374=)
|
rs770364083
|
0.00001
|
NM_201596.3(CACNB2):c.1134T>C (p.Ile378=)
|
rs1388696673
|
0.00001
|
NM_201596.3(CACNB2):c.1207G>A (p.Val403Ile)
|
rs752546853
|
0.00001
|
NM_201596.3(CACNB2):c.1261G>A (p.Val421Ile)
|
rs745337273
|
0.00001
|
NM_201596.3(CACNB2):c.1267A>T (p.Met423Leu)
|
rs779536902
|
0.00001
|
NM_201596.3(CACNB2):c.1276G>A (p.Ala426Thr)
|
rs1336353571
|
0.00001
|
NM_201596.3(CACNB2):c.1332C>T (p.Asn444=)
|
rs1260592132
|
0.00001
|
NM_201596.3(CACNB2):c.1362C>T (p.Ala454=)
|
rs769870567
|
0.00001
|
NM_201596.3(CACNB2):c.1363G>A (p.Asp455Asn)
|
rs780208478
|
0.00001
|
NM_201596.3(CACNB2):c.1388C>T (p.Ala463Val)
|
rs772842557
|
0.00001
|
NM_201596.3(CACNB2):c.1419C>T (p.Asn473=)
|
rs372177929
|
0.00001
|
NM_201596.3(CACNB2):c.1431C>T (p.Ser477=)
|
rs764828520
|
0.00001
|
NM_201596.3(CACNB2):c.1464C>T (p.Ser488=)
|
rs1060504915
|
0.00001
|
NM_201596.3(CACNB2):c.1488+6G>A
|
rs966376165
|
0.00001
|
NM_201596.3(CACNB2):c.1589A>C (p.His530Pro)
|
rs1169230473
|
0.00001
|
NM_201596.3(CACNB2):c.1602C>G (p.Ser534=)
|
rs763107822
|
0.00001
|
NM_201596.3(CACNB2):c.1625G>A (p.Arg542His)
|
rs571637787
|
0.00001
|
NM_201596.3(CACNB2):c.1683G>A (p.Glu561=)
|
rs773373763
|
0.00001
|
NM_201596.3(CACNB2):c.1694C>T (p.Ser565Phe)
|
rs1178558183
|
0.00001
|
NM_201596.3(CACNB2):c.1695T>C (p.Ser565=)
|
rs754860454
|
0.00001
|
NM_201596.3(CACNB2):c.1747G>C (p.Ala583Pro)
|
rs373826838
|
0.00001
|
NM_201596.3(CACNB2):c.1754A>T (p.His585Leu)
|
rs1412805204
|
0.00001
|
NM_201596.3(CACNB2):c.1768C>A (p.His590Asn)
|
rs776532519
|
0.00001
|
NM_201596.3(CACNB2):c.1786G>A (p.Gly596Arg)
|
rs751230406
|
0.00001
|
NM_201596.3(CACNB2):c.1797C>T (p.Asp599=)
|
rs1060504914
|
0.00001
|
NM_201596.3(CACNB2):c.1823G>A (p.Arg608His)
|
rs771011929
|
0.00001
|
NM_201596.3(CACNB2):c.1840C>T (p.Arg614Ter)
|
rs775467558
|
0.00001
|
NM_201596.3(CACNB2):c.1853A>T (p.His618Leu)
|
rs1457911789
|
0.00001
|
NM_201596.3(CACNB2):c.1857C>T (p.Asn619=)
|
rs774096122
|
0.00001
|
NM_201596.3(CACNB2):c.1858G>A (p.Glu620Lys)
|
rs761643494
|
0.00001
|
NM_201596.3(CACNB2):c.1873C>T (p.Arg625Cys)
|
rs1060499847
|
0.00001
|
NM_201596.3(CACNB2):c.1874G>A (p.Arg625His)
|
rs772911828
|
0.00001
|
NM_201596.3(CACNB2):c.1891A>G (p.Lys631Glu)
|
rs200613235
|
0.00001
|
NM_201596.3(CACNB2):c.1892A>G (p.Lys631Arg)
|
rs200260399
|
0.00001
|
NM_201596.3(CACNB2):c.1912G>T (p.Asp638Tyr)
|
rs142735478
|
0.00001
|
NM_201596.3(CACNB2):c.1927T>C (p.Ser643Pro)
|
rs771883602
|
0.00001
|
NM_201596.3(CACNB2):c.1941T>C (p.Asn647=)
|
rs749782217
|
0.00001
|
NM_201596.3(CACNB2):c.1944G>A (p.Glu648=)
|
rs1226944672
|
0.00001
|
NM_201596.3(CACNB2):c.1959C>T (p.Asn653=)
|
rs1414134597
|
0.00001
|
NM_201596.3(CACNB2):c.214-60939T>C
|
rs2041210717
|
0.00001
|
NM_201596.3(CACNB2):c.214-6C>T
|
rs864622500
|
0.00001
|
NM_201596.3(CACNB2):c.219G>A (p.Ser73=)
|
rs779134360
|
0.00001
|
NM_201596.3(CACNB2):c.246C>G (p.Ser82=)
|
rs758349246
|
0.00001
|
NM_201596.3(CACNB2):c.287G>T (p.Arg96Leu)
|
rs776194653
|
0.00001
|
NM_201596.3(CACNB2):c.339G>A (p.Lys113=)
|
rs748906162
|
0.00001
|
NM_201596.3(CACNB2):c.340C>G (p.Pro114Ala)
|
rs768218683
|
0.00001
|
NM_201596.3(CACNB2):c.353C>T (p.Ala118Val)
|
rs371859398
|
0.00001
|
NM_201596.3(CACNB2):c.358C>T (p.Arg120Trp)
|
rs541253552
|
0.00001
|
NM_201596.3(CACNB2):c.360G>A (p.Arg120=)
|
rs775896337
|
0.00001
|
NM_201596.3(CACNB2):c.403G>T (p.Val135Leu)
|
rs1060503435
|
0.00001
|
NM_201596.3(CACNB2):c.410G>A (p.Gly137Asp)
|
rs754596850
|
0.00001
|
NM_201596.3(CACNB2):c.424T>C (p.Phe142Leu)
|
rs747658821
|
0.00001
|
NM_201596.3(CACNB2):c.448G>A (p.Val150Ile)
|
rs1157722971
|
0.00001
|
NM_201596.3(CACNB2):c.457-15T>C
|
rs550954203
|
0.00001
|
NM_201596.3(CACNB2):c.492A>G (p.Val164=)
|
rs748311933
|
0.00001
|
NM_201596.3(CACNB2):c.503G>A (p.Cys168Tyr)
|
rs773215003
|
0.00001
|
NM_201596.3(CACNB2):c.510C>T (p.Ile170=)
|
rs760606646
|
0.00001
|
NM_201596.3(CACNB2):c.511G>A (p.Gly171Arg)
|
rs766267727
|
0.00001
|
NM_201596.3(CACNB2):c.631A>G (p.Ile211Val)
|
rs1344965960
|
0.00001
|
NM_201596.3(CACNB2):c.663A>G (p.Pro221=)
|
rs1213446253
|
0.00001
|
NM_201596.3(CACNB2):c.665C>T (p.Ser222Leu)
|
rs761542420
|
0.00001
|
NM_201596.3(CACNB2):c.670+19C>T
|
rs372107996
|
0.00001
|
NM_201596.3(CACNB2):c.670+9G>A
|
rs767064261
|
0.00001
|
NM_201596.3(CACNB2):c.671-4A>G
|
rs1479958358
|
0.00001
|
NM_201596.3(CACNB2):c.686C>A (p.Ala229Asp)
|
rs145885745
|
0.00001
|
NM_201596.3(CACNB2):c.721G>A (p.Ala241Thr)
|
rs1320589471
|
0.00001
|
NM_201596.3(CACNB2):c.742C>T (p.Pro248Ser)
|
rs982247860
|
0.00001
|
NM_201596.3(CACNB2):c.762G>A (p.Thr254=)
|
rs1212860668
|
0.00001
|
NM_201596.3(CACNB2):c.805-10C>G
|
rs770103856
|
0.00001
|
NM_201596.3(CACNB2):c.805-4G>A
|
rs200654601
|
0.00001
|
NM_201596.3(CACNB2):c.822G>A (p.Pro274=)
|
rs199908591
|
0.00001
|
NM_201596.3(CACNB2):c.825T>C (p.Tyr275=)
|
rs1294783650
|
0.00001
|
NM_201596.3(CACNB2):c.908C>T (p.Ala303Val)
|
rs1444302148
|
0.00001
|
NM_201596.3(CACNB2):c.909G>A (p.Ala303=)
|
rs144509796
|
0.00001
|
NM_201596.3(CACNB2):c.944+20G>A
|
rs760513979
|
0.00001
|
NM_201596.3(CACNB2):c.945-9C>T
|
rs1299127347
|
0.00001
|
NM_201596.3(CACNB2):c.977C>T (p.Ser326Leu)
|
rs763712135
|
0.00001
|
NC_000003.11:g.(?_32148194)_(32207412_?)dup
|
|
|
NC_000003.11:g.(?_37493846)_(38991873_?)del
|
|
|
NC_000003.11:g.(?_38495814)_(38991853_?)dup
|
|
|
NC_000003.11:g.(?_38518768)_(38674808_?)dup
|
|
|
NC_000003.11:g.(?_38589553)_(38674850_?)dup
|
|
|
NC_000003.11:g.(?_38591792)_(38593069_?)del
|
|
|
NC_000003.11:g.(?_38591802)_(38674808_?)del
|
|
|
NC_000003.11:g.(?_38591812)_(38593069_?)del
|
|
|
NC_000003.11:g.(?_38591812)_(38674798_?)dup
|
|
|
NC_000003.11:g.(?_38616778)_(38620996_?)del
|
|
|
NC_000003.11:g.(?_38645197)_(38674804_?)dup
|
|
|
NC_000003.11:g.(?_38655228)_(38663986_?)del
|
|
|
NC_000003.11:g.(?_38674520)_(38674804_?)del
|
|
|
NC_000003.11:g.(?_38738840)_(38753956_?)del
|
|
|
NC_000003.11:g.(?_57743379)_(57817277_?)dup
|
|
|
NC_000003.11:g.(?_57743379)_(57913115_?)dup
|
|
|
NC_000003.11:g.(?_57847666)_(57847823_?)dup
|
|
|
NC_000003.11:g.(?_57875748)_(57875847_?)del
|
|
|
NC_000003.11:g.(?_57893591)_(57893753_?)del
|
|
|
NC_000003.12:g.(?_37452365)_(38950372_?)del
|
|
|
NC_000003.12:g.(?_38548062)_(38551558_?)del
|
|
|
NC_000003.12:g.(?_38550301)_(38794030_?)del
|
|
|
NC_000003.12:g.(?_38613743)_(38622489_?)del
|
|
|
NC_000003.12:g.(?_38633035)_(38633359_?)del
|
|
|
NC_000003.12:g.(?_38788946)_(38794020_?)del
|
|
|
NC_000007.13:g.(?_81579698)_(81594991_?)dup
|
|
|
NC_000007.13:g.(?_81579698)_(81603878_?)dup
|
|
|
NC_000007.13:g.(?_81579708)_(81579844_?)dup
|
|
|
NC_000007.13:g.(?_81579708)_(81695860_?)dup
|
|
|
NC_000007.13:g.(?_81964431)_(81978985_?)del
|
|
|
NC_000007.13:g.(?_81964431)_(81978985_?)dup
|
|
|
NC_000007.13:g.(?_81964431)_(82072775_?)dup
|
|
|
NC_000007.13:g.(?_81978864)_(82072775_?)dup
|
|
|
NC_000007.13:g.(?_81978874)_(82072785_?)dup
|
|
|
NC_000007.13:g.(?_82072661)_(82072775_?)dup
|
|
|
NC_000007.14:g.(?_81967159)_(81970747_?)del
|
|
|
NC_000010.10:g.(?_18629856)_(18629926_?)dup
|
|
|
NC_000010.10:g.(?_18795390)_(18828653_?)dup
|
|
|
NC_000010.10:g.(?_18807245)_(18828653_?)dup
|
|
|
NC_000010.11:g.(?_18518326)_(18539734_?)dup
|
|
|
NC_000010.11:g.18539231del
|
rs2053907285
|
|
NC_000011.9:g.(?_123504851)_(123516478_?)dup
|
|
|
NC_000011.9:g.(?_123504851)_(123524509_?)dup
|
|
|
NC_000012.11:g.(?_21918657)_(22017431_?)dup
|
|
|
NC_000012.11:g.(?_21918657)_(22089608_?)del
|
|
|
NC_000012.12:g.21765761T>C
|
|
|
NC_000012.12:g.21765802C>A
|
|
|
NC_000012.12:g.21765806T>C
|
|
|
NC_000012.12:g.21765840C>T
|
|
|
NC_000012.12:g.21766002TTC[1]
|
|
|
NC_000012.12:g.21766013T>C
|
|
|
NC_000012.12:g.21766057A>G
|
|
|
NC_000012.12:g.21766209G>A
|
|
|
NC_000012.12:g.21766263T>C
|
|
|
NC_000012.12:g.21766281C>T
|
|
|
NC_000012.12:g.21766292G>A
|
|
|
NC_000012.12:g.21766528G>A
|
|
|
NC_000012.12:g.21766555A>G
|
|
|
NC_000012.12:g.21773274_21773288del
|
|
|
NC_000012.12:g.21773321C>G
|
|
|
NC_000012.12:g.21773450A>G
|
|
|
NC_000012.12:g.21773586C>A
|
|
|
NC_000015.10:g.(?_72353681)_(73368280_?)dup
|
|
|
NC_000015.9:g.(?_72847592)_(73660611_?)dup
|
|
|
NC_000015.9:g.(?_72978569)_(75190071_?)del
|
|
|
NC_000015.9:g.(?_73614812)_(73660621_?)dup
|
|
|
NC_000015.9:g.(?_73614822)_(73617805_?)del
|
|
|
NC_000015.9:g.(?_73614822)_(73660611_?)del
|
|
|
NC_000015.9:g.(?_73615988)_(73617901_?)del
|
|
|
NC_000015.9:g.(?_73659817)_(73660621_?)del
|
|
|
NC_000019.10:g.(?_35030801)_(35039721_?)del
|
|
|
NC_000019.9:g.(?_35521725)_(36643309_?)del
|
|
|
NC_000023.10:g.(?_108867821)_(108868249_?)del
|
|
|
NM_000335.5(SCN5A):c.-27_-15del
|
|
|
NM_000335.5(SCN5A):c.1015T>C (p.Tyr339His)
|
rs2062023205
|
|
NM_000335.5(SCN5A):c.104G>A (p.Gly35Asp)
|
rs867508345
|
|
NM_000335.5(SCN5A):c.1388T>G (p.Met463Arg)
|
rs761628195
|
|
NM_000335.5(SCN5A):c.1538G>C (p.Arg513Pro)
|
rs397517951
|
|
NM_000335.5(SCN5A):c.1768A>C (p.Lys590Gln)
|
rs1060501143
|
|
NM_000335.5(SCN5A):c.1940C>A (p.Ala647Asp)
|
rs185638763
|
|
NM_000335.5(SCN5A):c.2164A>G (p.Thr722Ala)
|
|
|
NM_000335.5(SCN5A):c.2257A>C (p.Asn753His)
|
rs2061854296
|
|
NM_000335.5(SCN5A):c.2294C>T (p.Thr765Ile)
|
rs2061688177
|
|
NM_000335.5(SCN5A):c.2399G>T (p.Arg800Leu)
|
rs566251672
|
|
NM_000335.5(SCN5A):c.272A>T (p.Lys91Met)
|
|
|
NM_000335.5(SCN5A):c.274-25_274-24delinsAT
|
rs386660280
|
|
NM_000335.5(SCN5A):c.2742del (p.Leu914fs)
|
rs2061654524
|
|
NM_000335.5(SCN5A):c.2768T>C (p.Met923Thr)
|
rs2061653830
|
|
NM_000335.5(SCN5A):c.2788-6C>G
|
rs41260344
|
|
NM_000335.5(SCN5A):c.2860del (p.Arg954fs)
|
rs2061580394
|
|
NM_000335.5(SCN5A):c.2890G>A (p.Ala964Thr)
|
rs1553699796
|
|
NM_000335.5(SCN5A):c.2980G>A (p.Ala994Thr)
|
rs1437826730
|
|
NM_000335.5(SCN5A):c.2987C>A (p.Ala996Asp)
|
rs1263123803
|
|
NM_000335.5(SCN5A):c.3091G>A (p.Gly1031Ser)
|
|
|
NM_000335.5(SCN5A):c.3155C>A (p.Ala1052Asp)
|
rs1430691171
|
|
NM_000335.5(SCN5A):c.3228+10C>A
|
rs72549412
|
|
NM_000335.5(SCN5A):c.3288G>C (p.Gln1096His)
|
|
|
NM_000335.5(SCN5A):c.342C>T (p.Leu114=)
|
rs879094574
|
|
NM_000335.5(SCN5A):c.3491A>T (p.Glu1164Val)
|
rs2061491992
|
|
NM_000335.5(SCN5A):c.351C>G (p.Phe117Leu)
|
rs2125931653
|
|
NM_000335.5(SCN5A):c.3726C>G (p.Asp1242Glu)
|
rs1559738468
|
|
NM_000335.5(SCN5A):c.3788A>G (p.Lys1263Arg)
|
rs1183090563
|
|
NM_000335.5(SCN5A):c.3925C>T (p.Pro1309Ser)
|
rs2061269221
|
|
NM_000335.5(SCN5A):c.4001T>G (p.Met1334Arg)
|
rs1343676000
|
|
NM_000335.5(SCN5A):c.4073A>T (p.Lys1358Met)
|
rs758959053
|
|
NM_000335.5(SCN5A):c.4179del (p.Trp1394fs)
|
rs2061229370
|
|
NM_000335.5(SCN5A):c.4326C>A (p.Asn1442Lys)
|
rs1575718424
|
|
NM_000335.5(SCN5A):c.4348G>C (p.Val1450Leu)
|
rs876657996
|
|
NM_000335.5(SCN5A):c.4434+6T>C
|
rs2125835168
|
|
NM_000335.5(SCN5A):c.44G>T (p.Arg15Met)
|
rs373410109
|
|
NM_000335.5(SCN5A):c.4614C>T (p.Cys1538=)
|
rs1227371604
|
|
NM_000335.5(SCN5A):c.4695C>T (p.Leu1565=)
|
rs727505094
|
|
NM_000335.5(SCN5A):c.4735G>T (p.Ala1579Ser)
|
rs2125830627
|
|
NM_000335.5(SCN5A):c.4811-3C>T
|
|
|
NM_000335.5(SCN5A):c.5151C>G (p.Ser1717Arg)
|
rs778490062
|
|
NM_000335.5(SCN5A):c.5269A>G (p.Ile1757Val)
|
rs1325549884
|
|
NM_000335.5(SCN5A):c.5454_5455inv (p.Ala1819Thr)
|
|
|
NM_000335.5(SCN5A):c.5472C>T (p.Leu1824=)
|
rs1253336819
|
|
NM_000335.5(SCN5A):c.5541C>T (p.Ile1847=)
|
rs1575704426
|
|
NM_000335.5(SCN5A):c.5576G>A (p.Arg1859Lys)
|
rs1559720220
|
|
NM_000335.5(SCN5A):c.5587G>A (p.Glu1863Lys)
|
rs1060501129
|
|
NM_000335.5(SCN5A):c.5708C>G (p.Ser1903Trp)
|
rs150264233
|
|
NM_000335.5(SCN5A):c.5801_5802dup (p.Leu1935fs)
|
rs2125824738
|
|
NM_000335.5(SCN5A):c.5822_5823del (p.Pro1941fs)
|
rs1553692416
|
|
NM_000335.5(SCN5A):c.5823T>G (p.Pro1941=)
|
rs2125824674
|
|
NM_000335.5(SCN5A):c.6014del (p.Pro2005fs)
|
|
|
NM_000335.5(SCN5A):c.802G>T (p.Gly268Cys)
|
rs750990576
|
|
NM_000335.5(SCN5A):c.883G>A (p.Glu295Lys)
|
rs762283891
|
|
NM_000335.5(SCN5A):c.95A>G (p.Gln32Arg)
|
rs1553607617
|
|
NM_000722.4(CACNA2D1):c.1009T>A (p.Phe337Ile)
|
|
|
NM_000722.4(CACNA2D1):c.1017T>G (p.Phe339Leu)
|
|
|
NM_000722.4(CACNA2D1):c.1019C>T (p.Ala340Val)
|
|
|
NM_000722.4(CACNA2D1):c.1038+7A>G
|
|
|
NM_000722.4(CACNA2D1):c.1039-12T>C
|
|
|
NM_000722.4(CACNA2D1):c.1039-15T>G
|
|
|
NM_000722.4(CACNA2D1):c.1080A>G (p.Leu360=)
|
rs1169691935
|
|
NM_000722.4(CACNA2D1):c.10G>A (p.Gly4Ser)
|
|
|
NM_000722.4(CACNA2D1):c.1122C>G (p.Asn374Lys)
|
|
|
NM_000722.4(CACNA2D1):c.1143+10A>G
|
|
|
NM_000722.4(CACNA2D1):c.1143+16T>C
|
|
|
NM_000722.4(CACNA2D1):c.1143+19T>C
|
|
|
NM_000722.4(CACNA2D1):c.1143+8T>C
|
|
|
NM_000722.4(CACNA2D1):c.1144-6A>T
|
rs1800182460
|
|
NM_000722.4(CACNA2D1):c.1148G>A (p.Arg383His)
|
rs1562870772
|
|
NM_000722.4(CACNA2D1):c.1156A>G (p.Thr386Ala)
|
rs2130949881
|
|
NM_000722.4(CACNA2D1):c.1164A>T (p.Ser388=)
|
|
|
NM_000722.4(CACNA2D1):c.116A>G (p.Lys39Arg)
|
|
|
NM_000722.4(CACNA2D1):c.1180T>C (p.Tyr394His)
|
|
|
NM_000722.4(CACNA2D1):c.1222+15T>G
|
|
|
NM_000722.4(CACNA2D1):c.1222+6A>C
|
|
|
NM_000722.4(CACNA2D1):c.1223-11G>A
|
|
|
NM_000722.4(CACNA2D1):c.1259G>A (p.Arg420Lys)
|
rs886039110
|
|
NM_000722.4(CACNA2D1):c.1266T>G (p.Asn422Lys)
|
|
|
NM_000722.4(CACNA2D1):c.1272+20G>A
|
|
|
NM_000722.4(CACNA2D1):c.1273-12_1273-11insTTTC
|
rs72239441
|
|
NM_000722.4(CACNA2D1):c.1273-12del
|
rs4019047
|
|
NM_000722.4(CACNA2D1):c.1273-12dup
|
rs4019047
|
|
NM_000722.4(CACNA2D1):c.1273-13_1273-12dup
|
|
|
NM_000722.4(CACNA2D1):c.1273-16_1273-12dup
|
rs4019047
|
|
NM_000722.4(CACNA2D1):c.1273-17_1273-12dup
|
|
|
NM_000722.4(CACNA2D1):c.1273-24_1273-21dup
|
rs4019047
|
|
NM_000722.4(CACNA2D1):c.1273-24_1273-22dup
|
rs4019047
|
|
NM_000722.4(CACNA2D1):c.1273-9C>T
|
rs776181564
|
|
NM_000722.4(CACNA2D1):c.1273-9del
|
|
|
NM_000722.4(CACNA2D1):c.1273-9dup
|
rs760642663
|
|
NM_000722.4(CACNA2D1):c.1281G>A (p.Leu427=)
|
rs1799868121
|
|
NM_000722.4(CACNA2D1):c.1294A>C (p.Arg432=)
|
|
|
NM_000722.4(CACNA2D1):c.129C>T (p.Asp43=)
|
|
|
NM_000722.4(CACNA2D1):c.1330G>A (p.Val444Ile)
|
rs1799865602
|
|
NM_000722.4(CACNA2D1):c.1362+19C>G
|
|
|
NM_000722.4(CACNA2D1):c.1362+2_1362+5dup
|
|
|
NM_000722.4(CACNA2D1):c.1410C>T (p.Thr470=)
|
|
|
NM_000722.4(CACNA2D1):c.1434_1439del (p.Asn478_Leu479del)
|
rs1554349582
|
|
NM_000722.4(CACNA2D1):c.1440+17T>C
|
|
|
NM_000722.4(CACNA2D1):c.1440+19A>G
|
|
|
NM_000722.4(CACNA2D1):c.1440+8G>T
|
rs2130885006
|
|
NM_000722.4(CACNA2D1):c.1441-16del
|
rs199645602
|
|
NM_000722.4(CACNA2D1):c.1441-5_1441-3del
|
|
|
NM_000722.4(CACNA2D1):c.1474G>C (p.Val492Leu)
|
|
|
NM_000722.4(CACNA2D1):c.1476G>A (p.Val492=)
|
|
|
NM_000722.4(CACNA2D1):c.14G>C (p.Cys5Ser)
|
rs552468945
|
|
NM_000722.4(CACNA2D1):c.1507C>T (p.Arg503Cys)
|
|
|
NM_000722.4(CACNA2D1):c.1508G>C (p.Arg503Pro)
|
|
|
NM_000722.4(CACNA2D1):c.1515+7T>C
|
|
|
NM_000722.4(CACNA2D1):c.1515+7T>G
|
|
|
NM_000722.4(CACNA2D1):c.1516-13TTTTC[3]
|
|
|
NM_000722.4(CACNA2D1):c.1516-16T>A
|
|
|
NM_000722.4(CACNA2D1):c.1516-4_1516-3delinsAA
|
|
|
NM_000722.4(CACNA2D1):c.1516-5T>A
|
rs2130867687
|
|
NM_000722.4(CACNA2D1):c.1516-9C>T
|
rs201578104
|
|
NM_000722.4(CACNA2D1):c.1516-9_1516-7del
|
|
|
NM_000722.4(CACNA2D1):c.1543A>G (p.Ile515Val)
|
|
|
NM_000722.4(CACNA2D1):c.1545C>T (p.Ile515=)
|
|
|
NM_000722.4(CACNA2D1):c.1576A>G (p.Asn526Asp)
|
|
|
NM_000722.4(CACNA2D1):c.1590+7A>G
|
|
|
NM_000722.4(CACNA2D1):c.1591-22ATT[2]
|
|
|
NM_000722.4(CACNA2D1):c.1591-8C>T
|
rs2130798402
|
|
NM_000722.4(CACNA2D1):c.1593C>T (p.Asn531=)
|
|
|
NM_000722.4(CACNA2D1):c.1609C>G (p.Pro537Ala)
|
rs1554345090
|
|
NM_000722.4(CACNA2D1):c.1635A>G (p.Ala545=)
|
|
|
NM_000722.4(CACNA2D1):c.1642G>A (p.Glu548Lys)
|
|
|
NM_000722.4(CACNA2D1):c.1642G>C (p.Glu548Gln)
|
|
|
NM_000722.4(CACNA2D1):c.1662+12C>T
|
rs748486095
|
|
NM_000722.4(CACNA2D1):c.1662+17A>G
|
|
|
NM_000722.4(CACNA2D1):c.1662+17A>T
|
|
|
NM_000722.4(CACNA2D1):c.1663-12A>C
|
|
|
NM_000722.4(CACNA2D1):c.1663-9T>C
|
|
|
NM_000722.4(CACNA2D1):c.1667G>A (p.Arg556Gln)
|
rs1584331322
|
|
NM_000722.4(CACNA2D1):c.1683T>C (p.Asp561=)
|
|
|
NM_000722.4(CACNA2D1):c.1685G>C (p.Gly562Ala)
|
|
|
NM_000722.4(CACNA2D1):c.168G>A (p.Gln56=)
|
|
|
NM_000722.4(CACNA2D1):c.1692T>C (p.Ser564=)
|
|
|
NM_000722.4(CACNA2D1):c.1714C>T (p.Leu572=)
|
|
|
NM_000722.4(CACNA2D1):c.1735-18C>T
|
|
|
NM_000722.4(CACNA2D1):c.1735A>C (p.Arg579=)
|
|
|
NM_000722.4(CACNA2D1):c.173T>C (p.Val58Ala)
|
|
|
NM_000722.4(CACNA2D1):c.1745A>G (p.Asp582Gly)
|
|
|
NM_000722.4(CACNA2D1):c.177+14A>G
|
|
|
NM_000722.4(CACNA2D1):c.177+9A>C
|
|
|
NM_000722.4(CACNA2D1):c.1774C>T (p.Pro592Ser)
|
|
|
NM_000722.4(CACNA2D1):c.178-12T>C
|
|
|
NM_000722.4(CACNA2D1):c.178-12del
|
rs5885290
|
|
NM_000722.4(CACNA2D1):c.178-13_178-12dup
|
|
|
NM_000722.4(CACNA2D1):c.178-19T>G
|
|
|
NM_000722.4(CACNA2D1):c.178-21dup
|
rs5885290
|
|
NM_000722.4(CACNA2D1):c.1796+4A>G
|
|
|
NM_000722.4(CACNA2D1):c.1796+7_1796+10del
|
|
|
NM_000722.4(CACNA2D1):c.1797-13G>A
|
rs2130667478
|
|
NM_000722.4(CACNA2D1):c.1797-14T>G
|
|
|
NM_000722.4(CACNA2D1):c.1797-18C>T
|
|
|
NM_000722.4(CACNA2D1):c.1832A>G (p.Tyr611Cys)
|
|
|
NM_000722.4(CACNA2D1):c.1878A>G (p.Lys626=)
|
|
|
NM_000722.4(CACNA2D1):c.1885A>G (p.Lys629Glu)
|
|
|
NM_000722.4(CACNA2D1):c.1894+19C>G
|
|
|
NM_000722.4(CACNA2D1):c.1894+9T>C
|
rs2130647213
|
|
NM_000722.4(CACNA2D1):c.1895-11T>G
|
|
|
NM_000722.4(CACNA2D1):c.1895-14C>T
|
|
|
NM_000722.4(CACNA2D1):c.1895-16A>G
|
|
|
NM_000722.4(CACNA2D1):c.1895-7T>C
|
rs2130638150
|
|
NM_000722.4(CACNA2D1):c.1895-8C>T
|
rs1584281988
|
|
NM_000722.4(CACNA2D1):c.1895A>G (p.Asp632Gly)
|
|
|
NM_000722.4(CACNA2D1):c.1938T>C (p.Tyr646=)
|
|
|
NM_000722.4(CACNA2D1):c.1951C>G (p.Pro651Ala)
|
|
|
NM_000722.4(CACNA2D1):c.1955+15A>G
|
|
|
NM_000722.4(CACNA2D1):c.1956-12_1956-10dup
|
rs3083235
|
|
NM_000722.4(CACNA2D1):c.1956-12_1956-11dup
|
rs3083235
|
|
NM_000722.4(CACNA2D1):c.1956-12dup
|
rs3083235
|
|
NM_000722.4(CACNA2D1):c.1956-4del
|
rs3083235
|
|
NM_000722.4(CACNA2D1):c.1962C>T (p.Tyr654=)
|
rs1795625802
|
|
NM_000722.4(CACNA2D1):c.1967A>G (p.Asn656Ser)
|
|
|
NM_000722.4(CACNA2D1):c.1988A>G (p.Asn663Ser)
|
|
|
NM_000722.4(CACNA2D1):c.1991A>G (p.Asn664Ser)
|
|
|
NM_000722.4(CACNA2D1):c.2017G>A (p.Glu673Lys)
|
|
|
NM_000722.4(CACNA2D1):c.2019G>A (p.Glu673=)
|
|
|
NM_000722.4(CACNA2D1):c.2048C>T (p.Pro683Leu)
|
|
|
NM_000722.4(CACNA2D1):c.2053+12T>G
|
|
|
NM_000722.4(CACNA2D1):c.2054-12T>C
|
|
|
NM_000722.4(CACNA2D1):c.2054-13T>C
|
|
|
NM_000722.4(CACNA2D1):c.2054-18G>T
|
|
|
NM_000722.4(CACNA2D1):c.206C>T (p.Thr69Ile)
|
|
|
NM_000722.4(CACNA2D1):c.2070T>G (p.Ile690Met)
|
rs1554333986
|
|
NM_000722.4(CACNA2D1):c.2085T>C (p.Leu695=)
|
rs1554333976
|
|
NM_000722.4(CACNA2D1):c.2138A>C (p.Asn713Thr)
|
|
|
NM_000722.4(CACNA2D1):c.2141+10_2141+13del
|
rs773095610
|
|
NM_000722.4(CACNA2D1):c.2141+7A>G
|
|
|
NM_000722.4(CACNA2D1):c.2142-20T>C
|
|
|
NM_000722.4(CACNA2D1):c.2142-3C>T
|
|
|
NM_000722.4(CACNA2D1):c.2142-9C>T
|
|
|
NM_000722.4(CACNA2D1):c.2142C>G (p.Ile714Met)
|
rs745501384
|
|
NM_000722.4(CACNA2D1):c.2159G>A (p.Arg720Gln)
|
|
|
NM_000722.4(CACNA2D1):c.2189G>A (p.Arg730Lys)
|
|
|
NM_000722.4(CACNA2D1):c.2200A>G (p.Lys734Glu)
|
rs1554333593
|
|
NM_000722.4(CACNA2D1):c.2204+16A>G
|
|
|
NM_000722.4(CACNA2D1):c.2204+18C>A
|
|
|
NM_000722.4(CACNA2D1):c.2205-14C>T
|
|
|
NM_000722.4(CACNA2D1):c.2205-15C>A
|
rs2130423307
|
|
NM_000722.4(CACNA2D1):c.2235G>A (p.Glu745=)
|
rs2130422241
|
|
NM_000722.4(CACNA2D1):c.226C>T (p.Arg76Cys)
|
|
|
NM_000722.4(CACNA2D1):c.2275G>A (p.Asp759Asn)
|
|
|
NM_000722.4(CACNA2D1):c.227G>T (p.Arg76Leu)
|
rs200298945
|
|
NM_000722.4(CACNA2D1):c.2289C>T (p.Phe763=)
|
|
|
NM_000722.4(CACNA2D1):c.2291C>G (p.Thr764Ser)
|
rs2130421265
|
|
NM_000722.4(CACNA2D1):c.2292T>C (p.Thr764=)
|
|
|
NM_000722.4(CACNA2D1):c.2300A>G (p.Tyr767Cys)
|
|
|
NM_000722.4(CACNA2D1):c.2309-12dup
|
rs762936617
|
|
NM_000722.4(CACNA2D1):c.2309-13del
|
|
|
NM_000722.4(CACNA2D1):c.2309-21ATTT[2]
|
rs374070810
|
|
NM_000722.4(CACNA2D1):c.2309-22_2309-18del
|
|
|
NM_000722.4(CACNA2D1):c.2309-3T>A
|
|
|
NM_000722.4(CACNA2D1):c.2309-3del
|
rs762936617
|
|
NM_000722.4(CACNA2D1):c.2317C>T (p.Pro773Ser)
|
rs1268971839
|
|
NM_000722.4(CACNA2D1):c.2318C>T (p.Pro773Leu)
|
rs772938422
|
|
NM_000722.4(CACNA2D1):c.2320G>A (p.Gly774Ser)
|
|
|
NM_000722.4(CACNA2D1):c.2332T>G (p.Ser778Ala)
|
|
|
NM_000722.4(CACNA2D1):c.2334G>C (p.Ser778=)
|
rs368512946
|
|
NM_000722.4(CACNA2D1):c.2336G>A (p.Gly779Asp)
|
|
|
NM_000722.4(CACNA2D1):c.2356G>A (p.Val786Ile)
|
|
|
NM_000722.4(CACNA2D1):c.2395+10_2395+20del
|
|
|
NM_000722.4(CACNA2D1):c.2395+12T>C
|
|
|
NM_000722.4(CACNA2D1):c.2396-12T>A
|
|
|
NM_000722.4(CACNA2D1):c.2398G>A (p.Val800Ile)
|
rs1365919214
|
|
NM_000722.4(CACNA2D1):c.2450C>T (p.Ser817Leu)
|
|
|
NM_000722.4(CACNA2D1):c.2458G>A (p.Asp820Asn)
|
|
|
NM_000722.4(CACNA2D1):c.2463+19A>G
|
|
|
NM_000722.4(CACNA2D1):c.2463+20T>A
|
|
|
NM_000722.4(CACNA2D1):c.2463+9T>C
|
|
|
NM_000722.4(CACNA2D1):c.2464-16C>T
|
|
|
NM_000722.4(CACNA2D1):c.2464-17G>A
|
|
|
NM_000722.4(CACNA2D1):c.2464-18C>T
|
|
|
NM_000722.4(CACNA2D1):c.2464-20A>G
|
|
|
NM_000722.4(CACNA2D1):c.2469T>C (p.Ala823=)
|
|
|
NM_000722.4(CACNA2D1):c.2472T>C (p.Gly824=)
|
|
|
NM_000722.4(CACNA2D1):c.2486G>A (p.Cys829Tyr)
|
|
|
NM_000722.4(CACNA2D1):c.2502+13T>C
|
rs1794790861
|
|
NM_000722.4(CACNA2D1):c.2502+19A>G
|
|
|
NM_000722.4(CACNA2D1):c.2503-10_2503-6del
|
rs774634676
|
|
NM_000722.4(CACNA2D1):c.2503-19G>C
|
|
|
NM_000722.4(CACNA2D1):c.2503-5G>T
|
rs2130336971
|
|
NM_000722.4(CACNA2D1):c.2503-7T>C
|
|
|
NM_000722.4(CACNA2D1):c.2513G>T (p.Cys838Phe)
|
rs1584210392
|
|
NM_000722.4(CACNA2D1):c.251G>A (p.Arg84Lys)
|
|
|
NM_000722.4(CACNA2D1):c.2529T>C (p.Asp843=)
|
|
|
NM_000722.4(CACNA2D1):c.2535G>A (p.Gly845=)
|
|
|
NM_000722.4(CACNA2D1):c.2535G>C (p.Gly845=)
|
|
|
NM_000722.4(CACNA2D1):c.253G>A (p.Asp85Asn)
|
rs769700955
|
|
NM_000722.4(CACNA2D1):c.2560G>A (p.Asp854Asn)
|
rs2130335993
|
|
NM_000722.4(CACNA2D1):c.2565T>C (p.Tyr855=)
|
|
|
NM_000722.4(CACNA2D1):c.2570A>G (p.Asn857Ser)
|
|
|
NM_000722.4(CACNA2D1):c.2574+17A>G
|
|
|
NM_000722.4(CACNA2D1):c.2574+19A>T
|
|
|
NM_000722.4(CACNA2D1):c.2574+20G>A
|
|
|
NM_000722.4(CACNA2D1):c.2574+3A>C
|
|
|
NM_000722.4(CACNA2D1):c.2574+3A>G
|
|
|
NM_000722.4(CACNA2D1):c.2575-16T>C
|
|
|
NM_000722.4(CACNA2D1):c.258T>C (p.Ile86=)
|
rs1817830741
|
|
NM_000722.4(CACNA2D1):c.2608T>C (p.Leu870=)
|
|
|
NM_000722.4(CACNA2D1):c.2629A>C (p.Ile877Leu)
|
|
|
NM_000722.4(CACNA2D1):c.2668T>G (p.Ser890Ala)
|
|
|
NM_000722.4(CACNA2D1):c.2677G>C (p.Glu893Gln)
|
|
|
NM_000722.4(CACNA2D1):c.2689G>A (p.Ala897Thr)
|
|
|
NM_000722.4(CACNA2D1):c.2710C>T (p.His904Tyr)
|
|
|
NM_000722.4(CACNA2D1):c.2713C>T (p.Arg905Cys)
|
|
|
NM_000722.4(CACNA2D1):c.2721A>G (p.Ala907=)
|
rs758369222
|
|
NM_000722.4(CACNA2D1):c.2727+11T>A
|
|
|
NM_000722.4(CACNA2D1):c.2727+16G>A
|
|
|
NM_000722.4(CACNA2D1):c.2727+17G>C
|
|
|
NM_000722.4(CACNA2D1):c.2727+4A>G
|
|
|
NM_000722.4(CACNA2D1):c.2727+8del
|
rs538712996
|
|
NM_000722.4(CACNA2D1):c.2728-4A>G
|
|
|
NM_000722.4(CACNA2D1):c.2728C>T (p.Pro910Ser)
|
|
|
NM_000722.4(CACNA2D1):c.2730A>C (p.Pro910=)
|
rs187849336
|
|
NM_000722.4(CACNA2D1):c.2733A>C (p.Ser911=)
|
|
|
NM_000722.4(CACNA2D1):c.2760G>C (p.Trp920Cys)
|
rs1554330432
|
|
NM_000722.4(CACNA2D1):c.2777C>T (p.Ala926Val)
|
|
|
NM_000722.4(CACNA2D1):c.2780+11A>T
|
|
|
NM_000722.4(CACNA2D1):c.2780+16A>G
|
rs182676195
|
|
NM_000722.4(CACNA2D1):c.2781-16T>A
|
|
|
NM_000722.4(CACNA2D1):c.2781-16del
|
rs758260884
|
|
NM_000722.4(CACNA2D1):c.2781-16dup
|
rs758260884
|
|
NM_000722.4(CACNA2D1):c.2790A>T (p.Leu930=)
|
|
|
NM_000722.4(CACNA2D1):c.2800C>T (p.Leu934Phe)
|
|
|
NM_000722.4(CACNA2D1):c.2811G>A (p.Leu937=)
|
|
|
NM_000722.4(CACNA2D1):c.2821C>T (p.Arg941Ter)
|
|
|
NM_000722.4(CACNA2D1):c.2835A>T (p.Ala945=)
|
rs748988843
|
|
NM_000722.4(CACNA2D1):c.2836+19C>G
|
|
|
NM_000722.4(CACNA2D1):c.2837-10_2837-4del
|
|
|
NM_000722.4(CACNA2D1):c.2837-11C>T
|
|
|
NM_000722.4(CACNA2D1):c.2837-17G>A
|
|
|
NM_000722.4(CACNA2D1):c.2837-4C>G
|
rs1584191523
|
|
NM_000722.4(CACNA2D1):c.2862G>A (p.Thr954=)
|
|
|
NM_000722.4(CACNA2D1):c.2874C>T (p.Ser958=)
|
|
|
NM_000722.4(CACNA2D1):c.2881A>G (p.Ser961Gly)
|
rs750969626
|
|
NM_000722.4(CACNA2D1):c.2891C>A (p.Thr964Asn)
|
|
|
NM_000722.4(CACNA2D1):c.2893G>A (p.Glu965Lys)
|
|
|
NM_000722.4(CACNA2D1):c.2895A>G (p.Glu965=)
|
|
|
NM_000722.4(CACNA2D1):c.2914G>T (p.Asp972Tyr)
|
|
|
NM_000722.4(CACNA2D1):c.2918A>T (p.Asn973Ile)
|
|
|
NM_000722.4(CACNA2D1):c.2923A>G (p.Ser975Gly)
|
|
|
NM_000722.4(CACNA2D1):c.2939G>C (p.Gly980Ala)
|
|
|
NM_000722.4(CACNA2D1):c.294+20G>A
|
|
|
NM_000722.4(CACNA2D1):c.2943A>G (p.Val981=)
|
|
|
NM_000722.4(CACNA2D1):c.2944T>A (p.Leu982Ile)
|
|
|
NM_000722.4(CACNA2D1):c.295-7T>A
|
|
|
NM_000722.4(CACNA2D1):c.295-9del
|
|
|
NM_000722.4(CACNA2D1):c.2958C>T (p.Asn986=)
|
rs2130246839
|
|
NM_000722.4(CACNA2D1):c.2966+1G>A
|
|
|
NM_000722.4(CACNA2D1):c.2966+4ATTT[2]
|
rs754772847
|
|
NM_000722.4(CACNA2D1):c.2966+8A>G
|
|
|
NM_000722.4(CACNA2D1):c.2967-3C>A
|
|
|
NM_000722.4(CACNA2D1):c.2967-9A>G
|
|
|
NM_000722.4(CACNA2D1):c.2968A>G (p.Ile990Val)
|
|
|
NM_000722.4(CACNA2D1):c.2969T>A (p.Ile990Asn)
|
rs2130187077
|
|
NM_000722.4(CACNA2D1):c.296G>A (p.Arg99His)
|
|
|
NM_000722.4(CACNA2D1):c.2997C>T (p.Thr999=)
|
rs1237376693
|
|
NM_000722.4(CACNA2D1):c.3016G>A (p.Val1006Ile)
|
|
|
NM_000722.4(CACNA2D1):c.3027del (p.Thr1011fs)
|
rs1554327285
|
|
NM_000722.4(CACNA2D1):c.3039A>C (p.Pro1013=)
|
|
|
NM_000722.4(CACNA2D1):c.3050G>A (p.Arg1017Gln)
|
|
|
NM_000722.4(CACNA2D1):c.3054G>T (p.Leu1018=)
|
|
|
NM_000722.4(CACNA2D1):c.3065C>A (p.Ala1022Glu)
|
|
|
NM_000722.4(CACNA2D1):c.3065C>T (p.Ala1022Val)
|
|
|
NM_000722.4(CACNA2D1):c.3076+14T>C
|
|
|
NM_000722.4(CACNA2D1):c.3076+14T>G
|
|
|
NM_000722.4(CACNA2D1):c.3077-19C>G
|
|
|
NM_000722.4(CACNA2D1):c.3077-37_3077-12dup
|
|
|
NM_000722.4(CACNA2D1):c.3077-4_3077-3del
|
rs773360358
|
|
NM_000722.4(CACNA2D1):c.3077-9C>T
|
rs2130173741
|
|
NM_000722.4(CACNA2D1):c.310G>A (p.Ala104Thr)
|
|
|
NM_000722.4(CACNA2D1):c.311C>T (p.Ala104Val)
|
|
|
NM_000722.4(CACNA2D1):c.3130C>T (p.Pro1044Ser)
|
|
|
NM_000722.4(CACNA2D1):c.3158T>C (p.Leu1053Ser)
|
|
|
NM_000722.4(CACNA2D1):c.3159+16T>C
|
|
|
NM_000722.4(CACNA2D1):c.3159+8C>A
|
|
|
NM_000722.4(CACNA2D1):c.3160-14T>G
|
|
|
NM_000722.4(CACNA2D1):c.3160-18_3160-17dup
|
rs367960608
|
|
NM_000722.4(CACNA2D1):c.3160-18dup
|
rs367960608
|
|
NM_000722.4(CACNA2D1):c.3160-19_3160-15del
|
rs778907208
|
|
NM_000722.4(CACNA2D1):c.3160-19_3160-16del
|
rs548221134
|
|
NM_000722.4(CACNA2D1):c.3160-1G>A
|
|
|
NM_000722.4(CACNA2D1):c.3160-9T>A
|
rs1792390693
|
|
NM_000722.4(CACNA2D1):c.3160-9del
|
rs367960608
|
|
NM_000722.4(CACNA2D1):c.3167A>T (p.Tyr1056Phe)
|
|
|
NM_000722.4(CACNA2D1):c.3170C>G (p.Thr1057Ser)
|
rs2129932628
|
|
NM_000722.4(CACNA2D1):c.3173_3176dup (p.Cys1059Ter)
|
|
|
NM_000722.4(CACNA2D1):c.31C>T (p.Leu11=)
|
rs1830666860
|
|
NM_000722.4(CACNA2D1):c.3201C>T (p.Pro1067=)
|
rs768028784
|
|
NM_000722.4(CACNA2D1):c.3211T>C (p.Tyr1071His)
|
rs2129931750
|
|
NM_000722.4(CACNA2D1):c.3212A>C (p.Tyr1071Ser)
|
rs956966352
|
|
NM_000722.4(CACNA2D1):c.321T>G (p.Val107=)
|
|
|
NM_000722.4(CACNA2D1):c.3242G>T (p.Trp1081Leu)
|
|
|
NM_000722.4(CACNA2D1):c.3254G>A (p.Gly1085Asp)
|
|
|
NM_000722.4(CACNA2D1):c.3266G>A (p.Arg1089His)
|
rs143631985
|
|
NM_000722.4(CACNA2D1):c.3266G>T (p.Arg1089Leu)
|
rs143631985
|
|
NM_000722.4(CACNA2D1):c.3274T>C (p.Ter1092Arg)
|
|
|
NM_000722.4(CACNA2D1):c.3275G>A (p.Ter1092=)
|
|
|
NM_000722.4(CACNA2D1):c.327A>C (p.Ala109=)
|
rs1795907782
|
|
NM_000722.4(CACNA2D1):c.355-10T>G
|
|
|
NM_000722.4(CACNA2D1):c.355-13T>C
|
|
|
NM_000722.4(CACNA2D1):c.355-14_355-13dup
|
rs142849270
|
|
NM_000722.4(CACNA2D1):c.355-14dup
|
rs142849270
|
|
NM_000722.4(CACNA2D1):c.355-15_355-14del
|
|
|
NM_000722.4(CACNA2D1):c.355-18G>A
|
|
|
NM_000722.4(CACNA2D1):c.355-19C>T
|
|
|
NM_000722.4(CACNA2D1):c.355-5del
|
rs142849270
|
|
NM_000722.4(CACNA2D1):c.359A>G (p.Asn120Ser)
|
|
|
NM_000722.4(CACNA2D1):c.364G>A (p.Val122Ile)
|
|
|
NM_000722.4(CACNA2D1):c.378T>C (p.Asn126=)
|
|
|
NM_000722.4(CACNA2D1):c.392T>A (p.Leu131His)
|
|
|
NM_000722.4(CACNA2D1):c.393C>G (p.Leu131=)
|
|
|
NM_000722.4(CACNA2D1):c.396+14G>A
|
|
|
NM_000722.4(CACNA2D1):c.396+8T>G
|
|
|
NM_000722.4(CACNA2D1):c.397-4A>G
|
rs917105846
|
|
NM_000722.4(CACNA2D1):c.397-9T>C
|
|
|
NM_000722.4(CACNA2D1):c.421G>C (p.Gly141Arg)
|
|
|
NM_000722.4(CACNA2D1):c.434T>C (p.Ile145Thr)
|
|
|
NM_000722.4(CACNA2D1):c.437A>T (p.Lys146Ile)
|
|
|
NM_000722.4(CACNA2D1):c.43C>G (p.Gln15Glu)
|
rs774697812
|
|
NM_000722.4(CACNA2D1):c.454G>A (p.Asp152Asn)
|
|
|
NM_000722.4(CACNA2D1):c.455A>G (p.Asp152Gly)
|
|
|
NM_000722.4(CACNA2D1):c.457G>A (p.Ala153Thr)
|
rs1163800062
|
|
NM_000722.4(CACNA2D1):c.460A>G (p.Asn154Asp)
|
|
|
NM_000722.4(CACNA2D1):c.47C>T (p.Ser16Phe)
|
|
|
NM_000722.4(CACNA2D1):c.480T>G (p.Ser160=)
|
|
|
NM_000722.4(CACNA2D1):c.482A>G (p.Tyr161Cys)
|
rs752496490
|
|
NM_000722.4(CACNA2D1):c.482A>T (p.Tyr161Phe)
|
|
|
NM_000722.4(CACNA2D1):c.508A>G (p.Thr170Ala)
|
|
|
NM_000722.4(CACNA2D1):c.527-10T>G
|
|
|
NM_000722.4(CACNA2D1):c.527-3T>C
|
rs1554398187
|
|
NM_000722.4(CACNA2D1):c.527-6dup
|
rs754041784
|
|
NM_000722.4(CACNA2D1):c.529A>C (p.Thr177Pro)
|
|
|
NM_000722.4(CACNA2D1):c.540A>G (p.Leu180=)
|
|
|
NM_000722.4(CACNA2D1):c.54C>T (p.Leu18=)
|
rs2129460343
|
|
NM_000722.4(CACNA2D1):c.551A>G (p.Asn184Ser)
|
rs1434289035
|
|
NM_000722.4(CACNA2D1):c.572_574del (p.Glu191del)
|
|
|
NM_000722.4(CACNA2D1):c.57C>G (p.Ile19Met)
|
rs770350248
|
|
NM_000722.4(CACNA2D1):c.57C>T (p.Ile19=)
|
rs770350248
|
|
NM_000722.4(CACNA2D1):c.585G>A (p.Lys195=)
|
|
|
NM_000722.4(CACNA2D1):c.585G>C (p.Lys195Asn)
|
rs1035408693
|
|
NM_000722.4(CACNA2D1):c.58G>C (p.Gly20Arg)
|
|
|
NM_000722.4(CACNA2D1):c.603T>G (p.Pro201=)
|
rs1584688167
|
|
NM_000722.4(CACNA2D1):c.62C>T (p.Pro21Leu)
|
|
|
NM_000722.4(CACNA2D1):c.655C>T (p.Pro219Ser)
|
|
|
NM_000722.4(CACNA2D1):c.658+7G>A
|
|
|
NM_000722.4(CACNA2D1):c.659-14T>A
|
rs2128985236
|
|
NM_000722.4(CACNA2D1):c.659-19_659-17del
|
|
|
NM_000722.4(CACNA2D1):c.659-21_659-17del
|
rs1562992730
|
|
NM_000722.4(CACNA2D1):c.659-23CT[4]
|
|
|
NM_000722.4(CACNA2D1):c.659-3T>C
|
rs770300395
|
|
NM_000722.4(CACNA2D1):c.660T>C (p.Ala220=)
|
|
|
NM_000722.4(CACNA2D1):c.677A>G (p.Asn226Ser)
|
|
|
NM_000722.4(CACNA2D1):c.693T>C (p.Asn231=)
|
|
|
NM_000722.4(CACNA2D1):c.69G>C (p.Ser23=)
|
|
|
NM_000722.4(CACNA2D1):c.69G>T (p.Ser23=)
|
|
|
NM_000722.4(CACNA2D1):c.702C>A (p.Asp234Glu)
|
|
|
NM_000722.4(CACNA2D1):c.703C>A (p.Leu235Ile)
|
|
|
NM_000722.4(CACNA2D1):c.717C>G (p.Arg239=)
|
|
|
NM_000722.4(CACNA2D1):c.728+13A>G
|
|
|
NM_000722.4(CACNA2D1):c.729-10T>C
|
|
|
NM_000722.4(CACNA2D1):c.729-16A>G
|
|
|
NM_000722.4(CACNA2D1):c.729-4T>C
|
rs756029866
|
|
NM_000722.4(CACNA2D1):c.77C>A (p.Pro26Gln)
|
rs1379575076
|
|
NM_000722.4(CACNA2D1):c.780-12G>A
|
rs780057040
|
|
NM_000722.4(CACNA2D1):c.822A>G (p.Thr274=)
|
|
|
NM_000722.4(CACNA2D1):c.831C>G (p.Ser277=)
|
rs144936173
|
|
NM_000722.4(CACNA2D1):c.831C>T (p.Ser277=)
|
rs144936173
|
|
NM_000722.4(CACNA2D1):c.836T>C (p.Met279Thr)
|
|
|
NM_000722.4(CACNA2D1):c.845C>A (p.Thr282Asn)
|
|
|
NM_000722.4(CACNA2D1):c.858T>C (p.Asp286=)
|
|
|
NM_000722.4(CACNA2D1):c.865G>A (p.Val289Met)
|
|
|
NM_000722.4(CACNA2D1):c.873A>C (p.Val291=)
|
|
|
NM_000722.4(CACNA2D1):c.879+19C>T
|
|
|
NM_000722.4(CACNA2D1):c.880-12A>G
|
|
|
NM_000722.4(CACNA2D1):c.880-13T>G
|
|
|
NM_000722.4(CACNA2D1):c.891T>C (p.Asn297=)
|
rs1803540058
|
|
NM_000722.4(CACNA2D1):c.901G>C (p.Val301Leu)
|
rs2131202672
|
|
NM_000722.4(CACNA2D1):c.90C>T (p.Ala30=)
|
|
|
NM_000722.4(CACNA2D1):c.921T>C (p.Leu307=)
|
|
|
NM_000722.4(CACNA2D1):c.930A>G (p.Ala310=)
|
rs2131202393
|
|
NM_000722.4(CACNA2D1):c.933T>C (p.Asn311=)
|
|
|
NM_000722.4(CACNA2D1):c.95+17G>A
|
|
|
NM_000722.4(CACNA2D1):c.95+19C>G
|
|
|
NM_000722.4(CACNA2D1):c.95+1G>A
|
rs1554560384
|
|
NM_000722.4(CACNA2D1):c.95+5G>A
|
|
|
NM_000722.4(CACNA2D1):c.95+7C>G
|
rs1440293365
|
|
NM_000722.4(CACNA2D1):c.96-18C>A
|
|
|
NM_000722.4(CACNA2D1):c.962C>T (p.Ala321Val)
|
|
|
NM_000722.4(CACNA2D1):c.969T>A (p.Asn323Lys)
|
rs1060503151
|
|
NM_000722.4(CACNA2D1):c.987A>G (p.Gly329=)
|
|
|
NM_001037.5(SCN1B):c.105C>T (p.Thr35=)
|
|
|
NM_001037.5(SCN1B):c.105del (p.Phe36fs)
|
|
|
NM_001037.5(SCN1B):c.109A>C (p.Lys37Gln)
|
|
|
NM_001037.5(SCN1B):c.122T>G (p.Ile41Ser)
|
rs2064221304
|
|
NM_001037.5(SCN1B):c.123C>T (p.Ile41=)
|
|
|
NM_001037.5(SCN1B):c.125C>A (p.Ser42Tyr)
|
|
|
NM_001037.5(SCN1B):c.136C>T (p.Arg46Cys)
|
rs371646049
|
|
NM_001037.5(SCN1B):c.137G>A (p.Arg46His)
|
rs1024702691
|
|
NM_001037.5(SCN1B):c.139A>G (p.Ser47Gly)
|
|
|
NM_001037.5(SCN1B):c.142G>A (p.Glu48Lys)
|
|
|
NM_001037.5(SCN1B):c.142G>C (p.Glu48Gln)
|
|
|
NM_001037.5(SCN1B):c.145A>T (p.Thr49Ser)
|
|
|
NM_001037.5(SCN1B):c.147C>A (p.Thr49=)
|
|
|
NM_001037.5(SCN1B):c.147C>T (p.Thr49=)
|
|
|
NM_001037.5(SCN1B):c.158C>A (p.Thr53Asn)
|
rs1568348711
|
|
NM_001037.5(SCN1B):c.166G>T (p.Glu56Ter)
|
|
|
NM_001037.5(SCN1B):c.167A>G (p.Glu56Gly)
|
|
|
NM_001037.5(SCN1B):c.16G>C (p.Ala6Pro)
|
rs1308862852
|
|
NM_001037.5(SCN1B):c.172A>C (p.Thr58Pro)
|
|
|
NM_001037.5(SCN1B):c.173C>G (p.Thr58Ser)
|
|
|
NM_001037.5(SCN1B):c.173C>T (p.Thr58Ile)
|
rs2064221831
|
|
NM_001037.5(SCN1B):c.178dup (p.Arg60fs)
|
|
|
NM_001037.5(SCN1B):c.179G>A (p.Arg60His)
|
rs2064221894
|
|
NM_001037.5(SCN1B):c.179G>T (p.Arg60Leu)
|
|
|
NM_001037.5(SCN1B):c.182A>G (p.Gln61Arg)
|
rs2151746034
|
|
NM_001037.5(SCN1B):c.189C>G (p.Gly63=)
|
|
|
NM_001037.5(SCN1B):c.190A>G (p.Thr64Ala)
|
rs2151746044
|
|
NM_001037.5(SCN1B):c.197A>G (p.Glu66Gly)
|
|
|
NM_001037.5(SCN1B):c.198G>T (p.Glu66Asp)
|
|
|
NM_001037.5(SCN1B):c.19T>A (p.Leu7Ile)
|
|
|
NM_001037.5(SCN1B):c.1A>C (p.Met1Leu)
|
rs1375857363
|
|
NM_001037.5(SCN1B):c.201T>C (p.Phe67=)
|
|
|
NM_001037.5(SCN1B):c.202G>C (p.Val68Leu)
|
|
|
NM_001037.5(SCN1B):c.207+10T>C
|
rs1057523254
|
|
NM_001037.5(SCN1B):c.207+11G>T
|
|
|
NM_001037.5(SCN1B):c.207+13C>G
|
rs373809858
|
|
NM_001037.5(SCN1B):c.207+13C>T
|
rs373809858
|
|
NM_001037.5(SCN1B):c.207+14G>C
|
|
|
NM_001037.5(SCN1B):c.207+16G>A
|
rs1159911277
|
|
NM_001037.5(SCN1B):c.207+19C>A
|
rs201872896
|
|
NM_001037.5(SCN1B):c.207+19C>T
|
rs201872896
|
|
NM_001037.5(SCN1B):c.207+1G>A
|
rs2064222084
|
|
NM_001037.5(SCN1B):c.207+20G>A
|
|
|
NM_001037.5(SCN1B):c.207+20G>C
|
|
|
NM_001037.5(SCN1B):c.207+9del
|
|
|
NM_001037.5(SCN1B):c.208-18C>G
|
|
|
NM_001037.5(SCN1B):c.208-4del
|
|
|
NM_001037.5(SCN1B):c.209T>C (p.Ile70Thr)
|
rs2064227259
|
|
NM_001037.5(SCN1B):c.20del (p.Ala6_Leu7insTer)
|
|
|
NM_001037.5(SCN1B):c.212T>C (p.Leu71Pro)
|
rs2064227283
|
|
NM_001037.5(SCN1B):c.213G>A (p.Leu71=)
|
|
|
NM_001037.5(SCN1B):c.215G>T (p.Arg72Leu)
|
rs770751961
|
|
NM_001037.5(SCN1B):c.218A>G (p.Tyr73Cys)
|
|
|
NM_001037.5(SCN1B):c.219T>G (p.Tyr73Ter)
|
rs2151746369
|
|
NM_001037.5(SCN1B):c.224A>G (p.Asn75Ser)
|
|
|
NM_001037.5(SCN1B):c.22G>C (p.Val8Leu)
|
rs786205832
|
|
NM_001037.5(SCN1B):c.238C>T (p.Leu80=)
|
|
|
NM_001037.5(SCN1B):c.239T>C (p.Leu80Pro)
|
|
|
NM_001037.5(SCN1B):c.249T>G (p.Asp83Glu)
|
|
|
NM_001037.5(SCN1B):c.24_25insT (p.Val9fs)
|
|
|
NM_001037.5(SCN1B):c.250G>A (p.Glu84Lys)
|
rs1555720710
|
|
NM_001037.5(SCN1B):c.253C>T (p.Arg85Cys)
|
rs786205830
|
|
NM_001037.5(SCN1B):c.256T>C (p.Phe86Leu)
|
rs1600364421
|
|
NM_001037.5(SCN1B):c.274T>C (p.Trp92Arg)
|
rs2151746407
|
|
NM_001037.5(SCN1B):c.275G>C (p.Trp92Ser)
|
|
|
NM_001037.5(SCN1B):c.27C>A (p.Val9=)
|
rs2151745350
|
|
NM_001037.5(SCN1B):c.281G>T (p.Gly94Val)
|
rs2151746413
|
|
NM_001037.5(SCN1B):c.284G>A (p.Ser95Asn)
|
rs1173359846
|
|
NM_001037.5(SCN1B):c.284G>C (p.Ser95Thr)
|
|
|
NM_001037.5(SCN1B):c.286C>A (p.Arg96=)
|
|
|
NM_001037.5(SCN1B):c.288G>A (p.Arg96=)
|
|
|
NM_001037.5(SCN1B):c.289G>A (p.Gly97Ser)
|
|
|
NM_001037.5(SCN1B):c.290G>A (p.Gly97Asp)
|
rs2064228310
|
|
NM_001037.5(SCN1B):c.290G>C (p.Gly97Ala)
|
rs2064228310
|
|
NM_001037.5(SCN1B):c.291C>T (p.Gly97=)
|
|
|
NM_001037.5(SCN1B):c.295A>T (p.Lys99Ter)
|
|
|
NM_001037.5(SCN1B):c.29G>A (p.Gly10Asp)
|
rs1555720384
|
|
NM_001037.5(SCN1B):c.2T>C (p.Met1Thr)
|
rs2151745332
|
|
NM_001037.5(SCN1B):c.304C>T (p.Gln102Ter)
|
rs2151746426
|
|
NM_001037.5(SCN1B):c.310C>A (p.Leu104Met)
|
rs1555720733
|
|
NM_001037.5(SCN1B):c.312_315del (p.Ile106fs)
|
|
|
NM_001037.5(SCN1B):c.316A>G (p.Ile106Val)
|
|
|
NM_001037.5(SCN1B):c.31G>A (p.Ala11Thr)
|
rs2064208679
|
|
NM_001037.5(SCN1B):c.329A>G (p.Asn110Ser)
|
|
|
NM_001037.5(SCN1B):c.32C>T (p.Ala11Val)
|
|
|
NM_001037.5(SCN1B):c.330T>C (p.Asn110=)
|
|
|
NM_001037.5(SCN1B):c.331G>A (p.Val111Ile)
|
rs2064228638
|
|
NM_001037.5(SCN1B):c.335C>T (p.Thr112Ile)
|
|
|
NM_001037.5(SCN1B):c.338A>G (p.Tyr113Cys)
|
rs1246786495
|
|
NM_001037.5(SCN1B):c.339C>T (p.Tyr113=)
|
|
|
NM_001037.5(SCN1B):c.33G>C (p.Ala11=)
|
|
|
NM_001037.5(SCN1B):c.347C>T (p.Ser116Leu)
|
|
|
NM_001037.5(SCN1B):c.347del (p.Ser116fs)
|
rs794727487
|
|
NM_001037.5(SCN1B):c.349G>A (p.Gly117Ser)
|
|
|
NM_001037.5(SCN1B):c.34G>A (p.Ala12Thr)
|
|
|
NM_001037.5(SCN1B):c.352G>A (p.Asp118Asn)
|
rs761925369
|
|
NM_001037.5(SCN1B):c.352G>T (p.Asp118Tyr)
|
rs761925369
|
|
NM_001037.5(SCN1B):c.360G>A (p.Glu120=)
|
rs2151746458
|
|
NM_001037.5(SCN1B):c.367G>T (p.Val123Phe)
|
rs754215948
|
|
NM_001037.5(SCN1B):c.369C>A (p.Val123=)
|
|
|
NM_001037.5(SCN1B):c.371A>G (p.Tyr124Cys)
|
|
|
NM_001037.5(SCN1B):c.374G>T (p.Arg125Leu)
|
rs759839781
|
|
NM_001037.5(SCN1B):c.389A>C (p.Glu130Ala)
|
|
|
NM_001037.5(SCN1B):c.396C>G (p.Tyr132Ter)
|
rs181115510
|
|
NM_001037.5(SCN1B):c.397G>A (p.Glu133Lys)
|
|
|
NM_001037.5(SCN1B):c.399G>A (p.Glu133=)
|
|
|
NM_001037.5(SCN1B):c.39G>C (p.Leu13=)
|
|
|
NM_001037.5(SCN1B):c.3G>A (p.Met1Ile)
|
|
|
NM_001037.5(SCN1B):c.40+11G>C
|
|
|
NM_001037.5(SCN1B):c.40+11G>T
|
|
|
NM_001037.5(SCN1B):c.40+15G>A
|
rs72556351
|
|
NM_001037.5(SCN1B):c.40+16dup
|
|
|
NM_001037.5(SCN1B):c.40+17C>G
|
|
|
NM_001037.5(SCN1B):c.40+17C>T
|
|
|
NM_001037.5(SCN1B):c.40+1_40+50del
|
rs2064208734
|
|
NM_001037.5(SCN1B):c.40+6T>G
|
|
|
NM_001037.5(SCN1B):c.40+8C>T
|
rs1600361056
|
|
NM_001037.5(SCN1B):c.401ACA[1] (p.Asn135del)
|
rs2064229476
|
|
NM_001037.5(SCN1B):c.404A>C (p.Asn135Thr)
|
|
|
NM_001037.5(SCN1B):c.41-11T>C
|
|
|
NM_001037.5(SCN1B):c.41-12del
|
rs2064220229
|
|
NM_001037.5(SCN1B):c.41-19G>A
|
|
|
NM_001037.5(SCN1B):c.41-4dup
|
|
|
NM_001037.5(SCN1B):c.41-5C>T
|
|
|
NM_001037.5(SCN1B):c.41-6C>G
|
|
|
NM_001037.5(SCN1B):c.41-7C>T
|
rs2151745957
|
|
NM_001037.5(SCN1B):c.411C>T (p.Ser137=)
|
rs202053988
|
|
NM_001037.5(SCN1B):c.412GTC[1] (p.Val139del)
|
rs2064229655
|
|
NM_001037.5(SCN1B):c.414C>G (p.Val138=)
|
rs757116018
|
|
NM_001037.5(SCN1B):c.415G>T (p.Val139Phe)
|
|
|
NM_001037.5(SCN1B):c.419AGA[3] (p.Lys141_Ile142insLys)
|
|
|
NM_001037.5(SCN1B):c.41T>C (p.Val14Ala)
|
rs2151745962
|
|
NM_001037.5(SCN1B):c.420G>C (p.Lys140Asn)
|
rs2151746501
|
|
NM_001037.5(SCN1B):c.424A>G (p.Ile142Val)
|
|
|
NM_001037.5(SCN1B):c.429C>T (p.His143=)
|
rs1600364945
|
|
NM_001037.5(SCN1B):c.430A>G (p.Ile144Val)
|
|
|
NM_001037.5(SCN1B):c.431T>C (p.Ile144Thr)
|
|
|
NM_001037.5(SCN1B):c.444C>T (p.Asp148=)
|
rs2151746505
|
|
NM_001037.5(SCN1B):c.447del (p.Ala150fs)
|
|
|
NM_001037.5(SCN1B):c.448+105G>C
|
|
|
NM_001037.5(SCN1B):c.448+106C>A
|
rs2151746573
|
|
NM_001037.5(SCN1B):c.448+10G>C
|
rs959703607
|
|
NM_001037.5(SCN1B):c.448+10del
|
|
|
NM_001037.5(SCN1B):c.448+111C>A
|
|
|
NM_001037.5(SCN1B):c.448+111C>G
|
|
|
NM_001037.5(SCN1B):c.448+113C>G
|
|
|
NM_001037.5(SCN1B):c.448+115C>T
|
|
|
NM_001037.5(SCN1B):c.448+117C>T
|
rs2151746583
|
|
NM_001037.5(SCN1B):c.448+119_448+120delinsAA
|
|
|
NM_001037.5(SCN1B):c.448+11T>C
|
|
|
NM_001037.5(SCN1B):c.448+120C>A
|
|
|
NM_001037.5(SCN1B):c.448+122G>C
|
|
|
NM_001037.5(SCN1B):c.448+129G>A
|
|
|
NM_001037.5(SCN1B):c.448+130A>G
|
|
|
NM_001037.5(SCN1B):c.448+131G>A
|
rs2151746593
|
|
NM_001037.5(SCN1B):c.448+135G>A
|
|
|
NM_001037.5(SCN1B):c.448+135G>T
|
|
|
NM_001037.5(SCN1B):c.448+135del
|
rs761070541
|
|
NM_001037.5(SCN1B):c.448+135dup
|
|
|
NM_001037.5(SCN1B):c.448+136A>C
|
|
|
NM_001037.5(SCN1B):c.448+152C>T
|
|
|
NM_001037.5(SCN1B):c.448+154G>A
|
|
|
NM_001037.5(SCN1B):c.448+158A>C
|
|
|
NM_001037.5(SCN1B):c.448+164G>A
|
rs781215295
|
|
NM_001037.5(SCN1B):c.448+167C>G
|
rs529053826
|
|
NM_001037.5(SCN1B):c.448+169G>A
|
|
|
NM_001037.5(SCN1B):c.448+171C>A
|
|
|
NM_001037.5(SCN1B):c.448+174_448+175del
|
rs2151746627
|
|
NM_001037.5(SCN1B):c.448+17C>T
|
|
|
NM_001037.5(SCN1B):c.448+184C>A
|
|
|
NM_001037.5(SCN1B):c.448+187G>A
|
rs2064231986
|
|
NM_001037.5(SCN1B):c.448+18T>C
|
rs2064230229
|
|
NM_001037.5(SCN1B):c.448+191A>G
|
|
|
NM_001037.5(SCN1B):c.448+197A>G
|
|
|
NM_001037.5(SCN1B):c.448+198G>A
|
rs2151746635
|
|
NM_001037.5(SCN1B):c.448+1G>A
|
|
|
NM_001037.5(SCN1B):c.448+201C>T
|
rs2151746638
|
|
NM_001037.5(SCN1B):c.448+208T>C
|
|
|
NM_001037.5(SCN1B):c.448+210C>A
|
|
|
NM_001037.5(SCN1B):c.448+210C>T
|
|
|
NM_001037.5(SCN1B):c.448+211C>G
|
rs749830952
|
|
NM_001037.5(SCN1B):c.448+213G>C
|
rs2064232193
|
|
NM_001037.5(SCN1B):c.448+215C>A
|
|
|
NM_001037.5(SCN1B):c.448+217C>T
|
rs1085307597
|
|
NM_001037.5(SCN1B):c.448+219C>A
|
|
|
NM_001037.5(SCN1B):c.448+219C>T
|
|
|
NM_001037.5(SCN1B):c.448+219dup
|
|
|
NM_001037.5(SCN1B):c.448+221C>T
|
|
|
NM_001037.5(SCN1B):c.448+231G>A
|
rs1412614368
|
|
NM_001037.5(SCN1B):c.448+233G>A
|
|
|
NM_001037.5(SCN1B):c.448+236C>G
|
rs779470587
|
|
NM_001037.5(SCN1B):c.448+236C>T
|
rs779470587
|
|
NM_001037.5(SCN1B):c.448+238G>C
|
rs2064232510
|
|
NM_001037.5(SCN1B):c.448+256T>A
|
|
|
NM_001037.5(SCN1B):c.448+25T>C
|
|
|
NM_001037.5(SCN1B):c.448+262G>T
|
|
|
NM_001037.5(SCN1B):c.448+264A>G
|
|
|
NM_001037.5(SCN1B):c.448+266G>A
|
rs2151746678
|
|
NM_001037.5(SCN1B):c.448+277G>T
|
rs2064232777
|
|
NM_001037.5(SCN1B):c.448+278G>A
|
rs1057521627
|
|
NM_001037.5(SCN1B):c.448+280G>A
|
|
|
NM_001037.5(SCN1B):c.448+287G>C
|
|
|
NM_001037.5(SCN1B):c.448+287_448+290del
|
rs762523720
|
|
NM_001037.5(SCN1B):c.448+288T>C
|
|
|
NM_001037.5(SCN1B):c.448+295_448+296delinsAA
|
rs2064232945
|
|
NM_001037.5(SCN1B):c.448+301G>A
|
rs67486287
|
|
NM_001037.5(SCN1B):c.448+301_448+302delinsCA
|
|
|
NM_001037.5(SCN1B):c.448+303del
|
|
|
NM_001037.5(SCN1B):c.448+305T>C
|
|
|
NM_001037.5(SCN1B):c.448+308C>T
|
rs986180682
|
|
NM_001037.5(SCN1B):c.448+316T>C
|
rs2151746709
|
|
NM_001037.5(SCN1B):c.448+320C>A
|
rs570257058
|
|
NM_001037.5(SCN1B):c.448+321G>C
|
rs72558028
|
|
NM_001037.5(SCN1B):c.448+330A>G
|
rs2151746720
|
|
NM_001037.5(SCN1B):c.448+336T>C
|
|
|
NM_001037.5(SCN1B):c.448+337G>A
|
rs369032304
|
|
NM_001037.5(SCN1B):c.448+337G>T
|
rs369032304
|
|
NM_001037.5(SCN1B):c.448+342T>A
|
|
|
NM_001037.5(SCN1B):c.448+346G>T
|
|
|
NM_001037.5(SCN1B):c.448+347G>A
|
|
|
NM_001037.5(SCN1B):c.448+348G>T
|
rs2064233650
|
|
NM_001037.5(SCN1B):c.448+357T>C
|
|
|
NM_001037.5(SCN1B):c.448+36C>T
|
|
|
NM_001037.5(SCN1B):c.448+39C>A
|
|
|
NM_001037.5(SCN1B):c.448+39C>T
|
rs373443526
|
|
NM_001037.5(SCN1B):c.448+41G>A
|
|
|
NM_001037.5(SCN1B):c.448+44A>G
|
|
|
NM_001037.5(SCN1B):c.448+4_448+12del
|
rs1322172446
|
|
NM_001037.5(SCN1B):c.448+50A>T
|
|
|
NM_001037.5(SCN1B):c.448+51T>C
|
|
|
NM_001037.5(SCN1B):c.448+55G>C
|
|
|
NM_001037.5(SCN1B):c.448+56G>A
|
|
|
NM_001037.5(SCN1B):c.448+61G>T
|
rs1555720788
|
|
NM_001037.5(SCN1B):c.448+67A>G
|
|
|
NM_001037.5(SCN1B):c.448+68G>T
|
rs2151746554
|
|
NM_001037.5(SCN1B):c.448+71A>G
|
|
|
NM_001037.5(SCN1B):c.448+77C>A
|
rs2064230789
|
|
NM_001037.5(SCN1B):c.448+7C>G
|
rs748379474
|
|
NM_001037.5(SCN1B):c.448+82C>T
|
|
|
NM_001037.5(SCN1B):c.448+85G>T
|
rs2064230859
|
|
NM_001037.5(SCN1B):c.448+8G>A
|
rs200222933
|
|
NM_001037.5(SCN1B):c.448+8G>T
|
|
|
NM_001037.5(SCN1B):c.448+90C>T
|
rs781079912
|
|
NM_001037.5(SCN1B):c.448+92C>G
|
rs750396627
|
|
NM_001037.5(SCN1B):c.448+97C>T
|
|
|
NM_001037.5(SCN1B):c.448G>T (p.Ala150Ser)
|
rs1034016541
|
|
NM_001037.5(SCN1B):c.449-10G>A
|
rs1049927697
|
|
NM_001037.5(SCN1B):c.449-14C>T
|
rs1355096099
|
|
NM_001037.5(SCN1B):c.449-17C>T
|
rs1279969842
|
|
NM_001037.5(SCN1B):c.449-1G>T
|
|
|
NM_001037.5(SCN1B):c.449-2A>G
|
rs1600370558
|
|
NM_001037.5(SCN1B):c.449-3C>T
|
rs370937269
|
|
NM_001037.5(SCN1B):c.449-5T>C
|
|
|
NM_001037.5(SCN1B):c.449-9C>A
|
rs786205829
|
|
NM_001037.5(SCN1B):c.449C>T (p.Ala150Val)
|
rs1131691415
|
|
NM_001037.5(SCN1B):c.455G>A (p.Arg152Lys)
|
rs760072940
|
|
NM_001037.5(SCN1B):c.460A>G (p.Met154Val)
|
|
|
NM_001037.5(SCN1B):c.461T>C (p.Met154Thr)
|
rs1432198305
|
|
NM_001037.5(SCN1B):c.469A>T (p.Ile157Phe)
|
|
|
NM_001037.5(SCN1B):c.471C>A (p.Ile157=)
|
|
|
NM_001037.5(SCN1B):c.471C>G (p.Ile157Met)
|
rs765269835
|
|
NM_001037.5(SCN1B):c.472G>A (p.Val158Met)
|
rs138450474
|
|
NM_001037.5(SCN1B):c.487A>G (p.Met163Val)
|
rs767608329
|
|
NM_001037.5(SCN1B):c.489G>A (p.Met163Ile)
|
rs2151748748
|
|
NM_001037.5(SCN1B):c.492T>C (p.Tyr164=)
|
rs535042320
|
|
NM_001037.5(SCN1B):c.498C>T (p.Leu166=)
|
|
|
NM_001037.5(SCN1B):c.504G>A (p.Val168=)
|
|
|
NM_001037.5(SCN1B):c.508T>C (p.Leu170=)
|
rs748491132
|
|
NM_001037.5(SCN1B):c.508T>G (p.Leu170Val)
|
rs748491132
|
|
NM_001037.5(SCN1B):c.50C>T (p.Ala17Val)
|
|
|
NM_001037.5(SCN1B):c.514A>C (p.Ile172Leu)
|
|
|
NM_001037.5(SCN1B):c.517T>C (p.Trp173Arg)
|
|
|
NM_001037.5(SCN1B):c.518G>A (p.Trp173Ter)
|
|
|
NM_001037.5(SCN1B):c.520C>T (p.Leu174Phe)
|
|
|
NM_001037.5(SCN1B):c.522C>A (p.Leu174=)
|
rs35478147
|
|
NM_001037.5(SCN1B):c.522C>T (p.Leu174=)
|
rs35478147
|
|
NM_001037.5(SCN1B):c.527C>T (p.Ala176Val)
|
|
|
NM_001037.5(SCN1B):c.548AGA[1] (p.Lys184del)
|
|
|
NM_001037.5(SCN1B):c.549G>A (p.Lys183=)
|
|
|
NM_001037.5(SCN1B):c.555C>G (p.Ile185Met)
|
|
|
NM_001037.5(SCN1B):c.555C>T (p.Ile185=)
|
rs1291900478
|
|
NM_001037.5(SCN1B):c.561C>G (p.Ala187=)
|
rs587781152
|
|
NM_001037.5(SCN1B):c.562G>A (p.Ala188Thr)
|
|
|
NM_001037.5(SCN1B):c.563C>T (p.Ala188Val)
|
|
|
NM_001037.5(SCN1B):c.564C>T (p.Ala188=)
|
|
|
NM_001037.5(SCN1B):c.567G>A (p.Thr189=)
|
|
|
NM_001037.5(SCN1B):c.581A>G (p.Gln194Arg)
|
|
|
NM_001037.5(SCN1B):c.584A>C (p.Glu195Ala)
|
rs2151748815
|
|
NM_001037.5(SCN1B):c.58G>A (p.Gly20Ser)
|
|
|
NM_001037.5(SCN1B):c.590+1G>A
|
rs112767703
|
|
NM_001037.5(SCN1B):c.590+3G>T
|
|
|
NM_001037.5(SCN1B):c.590+8G>C
|
|
|
NM_001037.5(SCN1B):c.590C>A (p.Ala197Asp)
|
|
|
NM_001037.5(SCN1B):c.591-12_606del
|
|
|
NM_001037.5(SCN1B):c.591-16G>C
|
|
|
NM_001037.5(SCN1B):c.591-2A>G
|
rs2151749034
|
|
NM_001037.5(SCN1B):c.591-3C>T
|
rs2151749033
|
|
NM_001037.5(SCN1B):c.591-5del
|
rs1218360584
|
|
NM_001037.5(SCN1B):c.591-5dup
|
|
|
NM_001037.5(SCN1B):c.591-8C>T
|
|
|
NM_001037.5(SCN1B):c.593C>A (p.Ser198Ter)
|
|
|
NM_001037.5(SCN1B):c.59dup (p.Cys21fs)
|
|
|
NM_001037.5(SCN1B):c.5G>T (p.Gly2Val)
|
|
|
NM_001037.5(SCN1B):c.611C>A (p.Thr204Asn)
|
rs2151749048
|
|
NM_001037.5(SCN1B):c.611C>G (p.Thr204Ser)
|
|
|
NM_001037.5(SCN1B):c.615dup (p.Glu206Ter)
|
rs1555721523
|
|
NM_001037.5(SCN1B):c.617A>G (p.Glu206Gly)
|
|
|
NM_001037.5(SCN1B):c.622A>C (p.Lys208Gln)
|
rs2151749056
|
|
NM_001037.5(SCN1B):c.627G>A (p.Glu209=)
|
|
|
NM_001037.5(SCN1B):c.630C>G (p.Asn210Lys)
|
|
|
NM_001037.5(SCN1B):c.631dup (p.Cys211fs)
|
|
|
NM_001037.5(SCN1B):c.634A>C (p.Thr212Pro)
|
|
|
NM_001037.5(SCN1B):c.635C>T (p.Thr212Met)
|
|
|
NM_001037.5(SCN1B):c.639C>T (p.Gly213=)
|
|
|
NM_001037.5(SCN1B):c.651C>T (p.Ala217=)
|
|
|
NM_001037.5(SCN1B):c.652G>A (p.Glu218Lys)
|
rs1555721538
|
|
NM_001037.5(SCN1B):c.655T>C (p.Ter219Gln)
|
rs2151749083
|
|
NM_001037.5(SCN1B):c.69G>A (p.Glu23=)
|
rs762553865
|
|
NM_001037.5(SCN1B):c.71T>A (p.Val24Glu)
|
|
|
NM_001037.5(SCN1B):c.72G>A (p.Val24=)
|
|
|
NM_001037.5(SCN1B):c.77C>T (p.Ser26Leu)
|
|
|
NM_001037.5(SCN1B):c.78G>A (p.Ser26=)
|
rs774401364
|
|
NM_001037.5(SCN1B):c.82A>T (p.Thr28Ser)
|
|
|
NM_001037.5(SCN1B):c.89C>A (p.Ala30Asp)
|
|
|
NM_001037.5(SCN1B):c.8G>T (p.Arg3Met)
|
rs2151745336
|
|
NM_001037.5(SCN1B):c.90C>A (p.Ala30=)
|
rs753994622
|
|
NM_001037.5(SCN1B):c.91G>A (p.Val31Met)
|
|
|
NM_001037.5(SCN1B):c.94_95insC (p.Tyr32fs)
|
|
|
NM_001037.5(SCN1B):c.97G>A (p.Gly33Arg)
|
rs2064221039
|
|
NM_001037.5(SCN1B):c.98G>T (p.Gly33Val)
|
rs2151745999
|
|
NM_001037.5(SCN1B):c.99G>T (p.Gly33=)
|
|
|
NM_001040151.2(SCN3B):c.111G>A (p.Gln37=)
|
rs2137247053
|
|
NM_001040151.2(SCN3B):c.117C>G (p.Asn39Lys)
|
|
|
NM_001040151.2(SCN3B):c.130C>T (p.Arg44Cys)
|
|
|
NM_001040151.2(SCN3B):c.135C>T (p.Cys45=)
|
|
|
NM_001040151.2(SCN3B):c.139T>A (p.Ser47Thr)
|
|
|
NM_001040151.2(SCN3B):c.13A>G (p.Asn5Asp)
|
|
|
NM_001040151.2(SCN3B):c.173C>T (p.Thr58Met)
|
|
|
NM_001040151.2(SCN3B):c.192C>T (p.Tyr64=)
|
|
|
NM_001040151.2(SCN3B):c.198C>A (p.Pro66=)
|
rs115752338
|
|
NM_001040151.2(SCN3B):c.198C>T (p.Pro66=)
|
rs115752338
|
|
NM_001040151.2(SCN3B):c.205G>A (p.Gly69Ser)
|
rs1020414330
|
|
NM_001040151.2(SCN3B):c.20T>G (p.Leu7Trp)
|
|
|
NM_001040151.2(SCN3B):c.219+2T>C
|
rs750105827
|
|
NM_001040151.2(SCN3B):c.225C>T (p.Tyr75=)
|
|
|
NM_001040151.2(SCN3B):c.240C>T (p.Gly80=)
|
|
|
NM_001040151.2(SCN3B):c.241C>T (p.His81Tyr)
|
|
|
NM_001040151.2(SCN3B):c.244C>T (p.Gln82Ter)
|
|
|
NM_001040151.2(SCN3B):c.256del (p.Ser86fs)
|
rs1955806072
|
|
NM_001040151.2(SCN3B):c.258C>T (p.Ser86=)
|
|
|
NM_001040151.2(SCN3B):c.272G>A (p.Arg91His)
|
|
|
NM_001040151.2(SCN3B):c.27C>T (p.Pro9=)
|
|
|
NM_001040151.2(SCN3B):c.291C>G (p.Ser97Arg)
|
|
|
NM_001040151.2(SCN3B):c.295G>A (p.Asp99Asn)
|
rs753656773
|
|
NM_001040151.2(SCN3B):c.301C>A (p.Gln101Lys)
|
|
|
NM_001040151.2(SCN3B):c.309G>T (p.Val103=)
|
|
|
NM_001040151.2(SCN3B):c.31G>A (p.Ala11Thr)
|
rs1955959844
|
|
NM_001040151.2(SCN3B):c.322C>T (p.Leu108Phe)
|
|
|
NM_001040151.2(SCN3B):c.331A>T (p.Thr111Ser)
|
|
|
NM_001040151.2(SCN3B):c.340G>A (p.Asp114Asn)
|
|
|
NM_001040151.2(SCN3B):c.354C>T (p.Tyr118=)
|
|
|
NM_001040151.2(SCN3B):c.371G>A (p.Arg124Gln)
|
|
|
NM_001040151.2(SCN3B):c.38T>C (p.Leu13Pro)
|
rs1955959753
|
|
NM_001040151.2(SCN3B):c.390G>A (p.Ala130=)
|
rs148484744
|
|
NM_001040151.2(SCN3B):c.390G>T (p.Ala130=)
|
rs148484744
|
|
NM_001040151.2(SCN3B):c.392_397del (p.His131_Arg132del)
|
rs2137241970
|
|
NM_001040151.2(SCN3B):c.39C>T (p.Leu13=)
|
|
|
NM_001040151.2(SCN3B):c.407A>G (p.Lys136Arg)
|
|
|
NM_001040151.2(SCN3B):c.409ACG[1] (p.Thr138del)
|
rs72552144
|
|
NM_001040151.2(SCN3B):c.411G>A (p.Thr137=)
|
|
|
NM_001040151.2(SCN3B):c.423C>G (p.Ile141Met)
|
rs879253730
|
|
NM_001040151.2(SCN3B):c.423C>T (p.Ile141=)
|
rs879253730
|
|
NM_001040151.2(SCN3B):c.436A>G (p.Thr146Ala)
|
|
|
NM_001040151.2(SCN3B):c.445+20T>G
|
|
|
NM_001040151.2(SCN3B):c.446-7C>G
|
rs527845801
|
|
NM_001040151.2(SCN3B):c.446C>G (p.Ala149Gly)
|
rs2137236047
|
|
NM_001040151.2(SCN3B):c.460A>G (p.Thr154Ala)
|
|
|
NM_001040151.2(SCN3B):c.46A>G (p.Ile16Val)
|
rs1306658128
|
|
NM_001040151.2(SCN3B):c.50A>G (p.Tyr17Cys)
|
|
|
NM_001040151.2(SCN3B):c.519G>T (p.Leu173=)
|
|
|
NM_001040151.2(SCN3B):c.525C>T (p.Ile175=)
|
|
|
NM_001040151.2(SCN3B):c.535T>C (p.Tyr179His)
|
|
|
NM_001040151.2(SCN3B):c.541T>A (p.Tyr181Asn)
|
|
|
NM_001040151.2(SCN3B):c.55+11G>A
|
|
|
NM_001040151.2(SCN3B):c.574C>G (p.Gln192Glu)
|
|
|
NM_001040151.2(SCN3B):c.584+9A>C
|
rs2137235766
|
|
NM_001040151.2(SCN3B):c.584C>T (p.Ala195Val)
|
|
|
NM_001040151.2(SCN3B):c.585-16C>T
|
rs2137231130
|
|
NM_001040151.2(SCN3B):c.585-1G>C
|
|
|
NM_001040151.2(SCN3B):c.601A>G (p.Ile201Val)
|
|
|
NM_001040151.2(SCN3B):c.608C>T (p.Ser203Phe)
|
|
|
NM_001040151.2(SCN3B):c.618G>C (p.Lys206Asn)
|
|
|
NM_001040151.2(SCN3B):c.624C>T (p.Asn208=)
|
|
|
NM_001040151.2(SCN3B):c.65G>A (p.Cys22Tyr)
|
|
|
NM_001040151.2(SCN3B):c.82G>C (p.Glu28Gln)
|
|
|
NM_001040151.2(SCN3B):c.92C>T (p.Ser31Leu)
|
|
|
NM_001040151.2(SCN3B):c.95A>G (p.Glu32Gly)
|
|
|
NM_001377540.1(SLMAP):c.*36T>G
|
|
|
NM_001377540.1(SLMAP):c.*37G>A
|
|
|
NM_001377540.1(SLMAP):c.*39C>G
|
|
|
NM_001377540.1(SLMAP):c.*48A>G
|
rs774039306
|
|
NM_001377540.1(SLMAP):c.*60C>T
|
|
|
NM_001377540.1(SLMAP):c.*64C>T
|
|
|
NM_001377540.1(SLMAP):c.*66G>A
|
|
|
NM_001377540.1(SLMAP):c.*7-17G>C
|
|
|
NM_001377540.1(SLMAP):c.*7-18T>C
|
|
|
NM_001377540.1(SLMAP):c.*70G>A
|
|
|
NM_001377540.1(SLMAP):c.*81G>A
|
rs557921655
|
|
NM_001377540.1(SLMAP):c.*81G>C
|
rs557921655
|
|
NM_001377540.1(SLMAP):c.*94C>G
|
|
|
NM_001377540.1(SLMAP):c.*96A>G
|
|
|
NM_001377540.1(SLMAP):c.1009G>A (p.Ala337Thr)
|
|
|
NM_001377540.1(SLMAP):c.1010C>T (p.Ala337Val)
|
|
|
NM_001377540.1(SLMAP):c.1012G>C (p.Glu338Gln)
|
rs2153604748
|
|
NM_001377540.1(SLMAP):c.1024T>C (p.Leu342=)
|
|
|
NM_001377540.1(SLMAP):c.1026A>G (p.Leu342=)
|
|
|
NM_001377540.1(SLMAP):c.1059A>G (p.Glu353=)
|
|
|
NM_001377540.1(SLMAP):c.1084G>T (p.Ala362Ser)
|
|
|
NM_001377540.1(SLMAP):c.1105T>G (p.Phe369Val)
|
|
|
NM_001377540.1(SLMAP):c.1112A>G (p.Asn371Ser)
|
|
|
NM_001377540.1(SLMAP):c.1119G>A (p.Arg373=)
|
rs759483873
|
|
NM_001377540.1(SLMAP):c.1119G>C (p.Arg373Ser)
|
|
|
NM_001377540.1(SLMAP):c.111T>C (p.Cys37=)
|
|
|
NM_001377540.1(SLMAP):c.1131_1132delinsCA (p.Leu377_Gln378delinsPheLys)
|
rs1577969548
|
|
NM_001377540.1(SLMAP):c.1135+16A>G
|
|
|
NM_001377540.1(SLMAP):c.1135+6T>G
|
|
|
NM_001377540.1(SLMAP):c.113G>T (p.Arg38Leu)
|
|
|
NM_001377540.1(SLMAP):c.119C>T (p.Ala40Val)
|
rs1228536991
|
|
NM_001377540.1(SLMAP):c.120_121delinsAA (p.Gln41Lys)
|
|
|
NM_001377540.1(SLMAP):c.1238-20G>A
|
|
|
NM_001377540.1(SLMAP):c.1238-3T>C
|
|
|
NM_001377540.1(SLMAP):c.1238-9_1238-6del
|
|
|
NM_001377540.1(SLMAP):c.1245G>C (p.Leu415Phe)
|
|
|
NM_001377540.1(SLMAP):c.1249T>G (p.Ser417Ala)
|
rs2095481948
|
|
NM_001377540.1(SLMAP):c.1252A>G (p.Lys418Glu)
|
|
|
NM_001377540.1(SLMAP):c.1258G>A (p.Gly420Ser)
|
|
|
NM_001377540.1(SLMAP):c.1260C>T (p.Gly420=)
|
|
|
NM_001377540.1(SLMAP):c.1264G>A (p.Asp422Asn)
|
|
|
NM_001377540.1(SLMAP):c.1269C>T (p.Cys423=)
|
rs2095482597
|
|
NM_001377540.1(SLMAP):c.1300+8del
|
rs2153617462
|
|
NM_001377540.1(SLMAP):c.1301-17T>G
|
|
|
NM_001377540.1(SLMAP):c.1301-19C>T
|
|
|
NM_001377540.1(SLMAP):c.1301-20A>G
|
|
|
NM_001377540.1(SLMAP):c.1301-4G>A
|
rs2153648973
|
|
NM_001377540.1(SLMAP):c.1301-7T>G
|
|
|
NM_001377540.1(SLMAP):c.1315G>A (p.Glu439Lys)
|
rs747337211
|
|
NM_001377540.1(SLMAP):c.1315G>C (p.Glu439Gln)
|
|
|
NM_001377540.1(SLMAP):c.1328C>G (p.Thr443Ser)
|
|
|
NM_001377540.1(SLMAP):c.1337T>C (p.Val446Ala)
|
|
|
NM_001377540.1(SLMAP):c.1343A>G (p.Glu448Gly)
|
rs755917730
|
|
NM_001377540.1(SLMAP):c.1346C>A (p.Thr449Lys)
|
|
|
NM_001377540.1(SLMAP):c.1360+20_1360+21del
|
rs772418049
|
|
NM_001377540.1(SLMAP):c.1361-9del
|
rs776085613
|
|
NM_001377540.1(SLMAP):c.1368G>T (p.Gln456His)
|
|
|
NM_001377540.1(SLMAP):c.1382A>C (p.Glu461Ala)
|
rs901233405
|
|
NM_001377540.1(SLMAP):c.1423A>T (p.Ser475Cys)
|
|
|
NM_001377540.1(SLMAP):c.1429G>A (p.Asp477Asn)
|
|
|
NM_001377540.1(SLMAP):c.1432G>A (p.Asp478Asn)
|
rs1016820088
|
|
NM_001377540.1(SLMAP):c.1435A>G (p.Thr479Ala)
|
|
|
NM_001377540.1(SLMAP):c.1440A>C (p.Thr480=)
|
|
|
NM_001377540.1(SLMAP):c.1442-10C>T
|
rs557832672
|
|
NM_001377540.1(SLMAP):c.1442-14T>C
|
|
|
NM_001377540.1(SLMAP):c.1442-15T>C
|
|
|
NM_001377540.1(SLMAP):c.1442-3T>C
|
|
|
NM_001377540.1(SLMAP):c.1442-6C>G
|
|
|
NM_001377540.1(SLMAP):c.1462G>T (p.Asp488Tyr)
|
|
|
NM_001377540.1(SLMAP):c.1477C>T (p.Leu493Phe)
|
|
|
NM_001377540.1(SLMAP):c.1479T>C (p.Leu493=)
|
rs1575912400
|
|
NM_001377540.1(SLMAP):c.1483A>C (p.Lys495Gln)
|
|
|
NM_001377540.1(SLMAP):c.1501+1del
|
rs1446668420
|
|
NM_001377540.1(SLMAP):c.1501+4C>T
|
rs539985706
|
|
NM_001377540.1(SLMAP):c.1501+7dup
|
rs2153660129
|
|
NM_001377540.1(SLMAP):c.1502-4T>G
|
rs2096606562
|
|
NM_001377540.1(SLMAP):c.1502-5G>A
|
|
|
NM_001377540.1(SLMAP):c.150G>A (p.Val50=)
|
|
|
NM_001377540.1(SLMAP):c.1528A>G (p.Ile510Val)
|
rs2096607019
|
|
NM_001377540.1(SLMAP):c.153A>G (p.Leu51=)
|
|
|
NM_001377540.1(SLMAP):c.1559G>A (p.Arg520Gln)
|
rs765688735
|
|
NM_001377540.1(SLMAP):c.1569G>T (p.Leu523Phe)
|
|
|
NM_001377540.1(SLMAP):c.1580A>C (p.Gln527Pro)
|
|
|
NM_001377540.1(SLMAP):c.1625-13T>G
|
|
|
NM_001377540.1(SLMAP):c.1686A>G (p.Ile562Met)
|
rs2096633047
|
|
NM_001377540.1(SLMAP):c.1693C>G (p.Leu565Val)
|
|
|
NM_001377540.1(SLMAP):c.1699+13C>T
|
|
|
NM_001377540.1(SLMAP):c.1699+16A>G
|
|
|
NM_001377540.1(SLMAP):c.1699+18G>C
|
|
|
NM_001377540.1(SLMAP):c.1699+4T>G
|
|
|
NM_001377540.1(SLMAP):c.1700-12A>G
|
|
|
NM_001377540.1(SLMAP):c.1700-17T>G
|
|
|
NM_001377540.1(SLMAP):c.1720A>G (p.Ile574Val)
|
|
|
NM_001377540.1(SLMAP):c.1722C>T (p.Ile574=)
|
|
|
NM_001377540.1(SLMAP):c.1723G>A (p.Asp575Asn)
|
|
|
NM_001377540.1(SLMAP):c.1727C>T (p.Thr576Ile)
|
|
|
NM_001377540.1(SLMAP):c.1739G>A (p.Arg580Gln)
|
rs138744399
|
|
NM_001377540.1(SLMAP):c.1747_1749del (p.Lys583del)
|
|
|
NM_001377540.1(SLMAP):c.1753A>C (p.Ser585Arg)
|
rs370779290
|
|
NM_001377540.1(SLMAP):c.1780T>C (p.Leu594=)
|
rs1411551082
|
|
NM_001377540.1(SLMAP):c.1784T>C (p.Leu595Pro)
|
|
|
NM_001377540.1(SLMAP):c.1790C>T (p.Ala597Val)
|
|
|
NM_001377540.1(SLMAP):c.1794A>C (p.Arg598=)
|
|
|
NM_001377540.1(SLMAP):c.1798G>A (p.Glu600Lys)
|
|
|
NM_001377540.1(SLMAP):c.1806G>T (p.Leu602Phe)
|
|
|
NM_001377540.1(SLMAP):c.1831G>T (p.Val611Phe)
|
|
|
NM_001377540.1(SLMAP):c.183T>C (p.Asp61=)
|
|
|
NM_001377540.1(SLMAP):c.1844G>A (p.Arg615Gln)
|
|
|
NM_001377540.1(SLMAP):c.1844G>C (p.Arg615Pro)
|
|
|
NM_001377540.1(SLMAP):c.1872A>C (p.Glu624Asp)
|
|
|
NM_001377540.1(SLMAP):c.1884G>A (p.Lys628=)
|
|
|
NM_001377540.1(SLMAP):c.1896G>T (p.Glu632Asp)
|
|
|
NM_001377540.1(SLMAP):c.1897C>G (p.Leu633Val)
|
|
|
NM_001377540.1(SLMAP):c.1903C>T (p.Arg635Trp)
|
|
|
NM_001377540.1(SLMAP):c.1910G>A (p.Arg637Gln)
|
|
|
NM_001377540.1(SLMAP):c.1916C>T (p.Ala639Val)
|
|
|
NM_001377540.1(SLMAP):c.1920G>A (p.Ala640=)
|
|
|
NM_001377540.1(SLMAP):c.1926A>G (p.Glu642=)
|
|
|
NM_001377540.1(SLMAP):c.198+13C>T
|
|
|
NM_001377540.1(SLMAP):c.198+7T>A
|
rs765113508
|
|
NM_001377540.1(SLMAP):c.1987G>T (p.Asp663Tyr)
|
|
|
NM_001377540.1(SLMAP):c.1988A>T (p.Asp663Val)
|
rs140982905
|
|
NM_001377540.1(SLMAP):c.199-14G>A
|
rs558579683
|
|
NM_001377540.1(SLMAP):c.199-16_199-15del
|
rs545721430
|
|
NM_001377540.1(SLMAP):c.199-5dup
|
rs199960887
|
|
NM_001377540.1(SLMAP):c.1992G>A (p.Gln664=)
|
|
|
NM_001377540.1(SLMAP):c.1992G>T (p.Gln664His)
|
|
|
NM_001377540.1(SLMAP):c.1997G>A (p.Arg666Lys)
|
|
|
NM_001377540.1(SLMAP):c.2020+15T>C
|
|
|
NM_001377540.1(SLMAP):c.2020+6_2020+7insG
|
rs2153691653
|
|
NM_001377540.1(SLMAP):c.2021-11del
|
|
|
NM_001377540.1(SLMAP):c.2021-14del
|
|
|
NM_001377540.1(SLMAP):c.2021-15T>C
|
|
|
NM_001377540.1(SLMAP):c.2021-19T>C
|
|
|
NM_001377540.1(SLMAP):c.2055A>T (p.Ala685=)
|
rs141033845
|
|
NM_001377540.1(SLMAP):c.2056T>C (p.Leu686=)
|
|
|
NM_001377540.1(SLMAP):c.205C>A (p.Leu69Ile)
|
|
|
NM_001377540.1(SLMAP):c.2067A>G (p.Glu689=)
|
|
|
NM_001377540.1(SLMAP):c.2079A>G (p.Leu693=)
|
|
|
NM_001377540.1(SLMAP):c.2085G>A (p.Arg695=)
|
rs2153692467
|
|
NM_001377540.1(SLMAP):c.2100A>C (p.Leu700=)
|
|
|
NM_001377540.1(SLMAP):c.211G>T (p.Asp71Tyr)
|
rs2093330967
|
|
NM_001377540.1(SLMAP):c.2123A>G (p.Glu708Gly)
|
|
|
NM_001377540.1(SLMAP):c.2124A>G (p.Glu708=)
|
|
|
NM_001377540.1(SLMAP):c.2131T>C (p.Leu711=)
|
|
|
NM_001377540.1(SLMAP):c.2133G>A (p.Leu711=)
|
|
|
NM_001377540.1(SLMAP):c.2137A>G (p.Asn713Asp)
|
|
|
NM_001377540.1(SLMAP):c.2138+12C>G
|
|
|
NM_001377540.1(SLMAP):c.2138+12CT[2]
|
rs1236802194
|
|
NM_001377540.1(SLMAP):c.2138+7A>G
|
|
|
NM_001377540.1(SLMAP):c.2139-16A>G
|
|
|
NM_001377540.1(SLMAP):c.2139-7A>G
|
|
|
NM_001377540.1(SLMAP):c.2141C>A (p.Ser714Tyr)
|
|
|
NM_001377540.1(SLMAP):c.2145G>C (p.Gln715His)
|
|
|
NM_001377540.1(SLMAP):c.2148G>A (p.Lys716=)
|
|
|
NM_001377540.1(SLMAP):c.2153G>A (p.Ser718Asn)
|
|
|
NM_001377540.1(SLMAP):c.2158G>A (p.Glu720Lys)
|
|
|
NM_001377540.1(SLMAP):c.2180T>C (p.Ile727Thr)
|
|
|
NM_001377540.1(SLMAP):c.2181C>T (p.Ile727=)
|
|
|
NM_001377540.1(SLMAP):c.2182C>T (p.Leu728Phe)
|
rs2153698213
|
|
NM_001377540.1(SLMAP):c.2190G>A (p.Met730Ile)
|
|
|
NM_001377540.1(SLMAP):c.2193T>A (p.Ser731=)
|
|
|
NM_001377540.1(SLMAP):c.2220A>G (p.Gly740=)
|
|
|
NM_001377540.1(SLMAP):c.222T>C (p.Ser74=)
|
|
|
NM_001377540.1(SLMAP):c.2231A>C (p.Glu744Ala)
|
|
|
NM_001377540.1(SLMAP):c.2242C>T (p.Arg748Trp)
|
|
|
NM_001377540.1(SLMAP):c.2295G>A (p.Lys765=)
|
|
|
NM_001377540.1(SLMAP):c.2310+16A>G
|
rs2153698414
|
|
NM_001377540.1(SLMAP):c.2310+18_2310+20del
|
rs1202407130
|
|
NM_001377540.1(SLMAP):c.2310+19A>G
|
|
|
NM_001377540.1(SLMAP):c.2311-14_2311-13del
|
|
|
NM_001377540.1(SLMAP):c.2311-7C>T
|
|
|
NM_001377540.1(SLMAP):c.2312A>G (p.Tyr771Cys)
|
|
|
NM_001377540.1(SLMAP):c.2353T>C (p.Phe785Leu)
|
|
|
NM_001377540.1(SLMAP):c.2357A>G (p.Glu786Gly)
|
|
|
NM_001377540.1(SLMAP):c.2361G>T (p.Met787Ile)
|
|
|
NM_001377540.1(SLMAP):c.2362A>T (p.Thr788Ser)
|
|
|
NM_001377540.1(SLMAP):c.2376G>A (p.Lys792=)
|
|
|
NM_001377540.1(SLMAP):c.2385C>T (p.Ile795=)
|
|
|
NM_001377540.1(SLMAP):c.238A>G (p.Ile80Val)
|
rs901486021
|
|
NM_001377540.1(SLMAP):c.2403G>A (p.Gln801=)
|
|
|
NM_001377540.1(SLMAP):c.2415C>T (p.Asn805=)
|
|
|
NM_001377540.1(SLMAP):c.2429G>A (p.Arg810Gln)
|
|
|
NM_001377540.1(SLMAP):c.2437G>A (p.Gly813Arg)
|
rs1444785203
|
|
NM_001377540.1(SLMAP):c.2440A>G (p.Asn814Asp)
|
rs1214562198
|
|
NM_001377540.1(SLMAP):c.2441A>G (p.Asn814Ser)
|
|
|
NM_001377540.1(SLMAP):c.258T>G (p.Ser86Arg)
|
rs2093332186
|
|
NM_001377540.1(SLMAP):c.260G>A (p.Arg87Gln)
|
|
|
NM_001377540.1(SLMAP):c.265T>G (p.Ser89Ala)
|
rs2153547258
|
|
NM_001377540.1(SLMAP):c.275G>A (p.Ser92Asn)
|
|
|
NM_001377540.1(SLMAP):c.346+24dup
|
rs771836522
|
|
NM_001377540.1(SLMAP):c.346+5G>A
|
rs2093334864
|
|
NM_001377540.1(SLMAP):c.346+9A>G
|
|
|
NM_001377540.1(SLMAP):c.347-1G>T
|
rs1060503190
|
|
NM_001377540.1(SLMAP):c.348T>C (p.Val116=)
|
rs2093924681
|
|
NM_001377540.1(SLMAP):c.413G>C (p.Arg138Pro)
|
|
|
NM_001377540.1(SLMAP):c.419+13T>G
|
|
|
NM_001377540.1(SLMAP):c.419+18C>T
|
|
|
NM_001377540.1(SLMAP):c.419+29_419+39del
|
rs748357817
|
|
NM_001377540.1(SLMAP):c.419+3G>A
|
|
|
NM_001377540.1(SLMAP):c.420-16A>T
|
rs2153574252
|
|
NM_001377540.1(SLMAP):c.420-17T>A
|
|
|
NM_001377540.1(SLMAP):c.420-17T>C
|
|
|
NM_001377540.1(SLMAP):c.421G>A (p.Val141Ile)
|
|
|
NM_001377540.1(SLMAP):c.42G>T (p.Ser14=)
|
rs760264345
|
|
NM_001377540.1(SLMAP):c.436_441del (p.Leu146_Pro147del)
|
|
|
NM_001377540.1(SLMAP):c.43C>A (p.His15Asn)
|
|
|
NM_001377540.1(SLMAP):c.440C>G (p.Pro147Arg)
|
|
|
NM_001377540.1(SLMAP):c.444T>C (p.Ser148=)
|
|
|
NM_001377540.1(SLMAP):c.456+17T>A
|
|
|
NM_001377540.1(SLMAP):c.456+3A>G
|
|
|
NM_001377540.1(SLMAP):c.457-7T>C
|
|
|
NM_001377540.1(SLMAP):c.465T>C (p.Ala155=)
|
|
|
NM_001377540.1(SLMAP):c.473C>T (p.Pro158Leu)
|
|
|
NM_001377540.1(SLMAP):c.482A>C (p.Tyr161Ser)
|
|
|
NM_001377540.1(SLMAP):c.48G>A (p.Pro16=)
|
|
|
NM_001377540.1(SLMAP):c.519+16G>A
|
|
|
NM_001377540.1(SLMAP):c.520-10G>A
|
|
|
NM_001377540.1(SLMAP):c.522G>A (p.Glu174=)
|
|
|
NM_001377540.1(SLMAP):c.537A>G (p.Glu179=)
|
|
|
NM_001377540.1(SLMAP):c.563C>A (p.Thr188Lys)
|
|
|
NM_001377540.1(SLMAP):c.573G>T (p.Arg191=)
|
|
|
NM_001377540.1(SLMAP):c.579A>G (p.Leu193=)
|
|
|
NM_001377540.1(SLMAP):c.585C>T (p.Ile195=)
|
rs953772004
|
|
NM_001377540.1(SLMAP):c.588C>T (p.Thr196=)
|
|
|
NM_001377540.1(SLMAP):c.597T>C (p.Ala199=)
|
|
|
NM_001377540.1(SLMAP):c.606C>A (p.Thr202=)
|
|
|
NM_001377540.1(SLMAP):c.626A>G (p.Asp209Gly)
|
|
|
NM_001377540.1(SLMAP):c.633_641dup (p.Leu213_Leu214insPheArgLeu)
|
|
|
NM_001377540.1(SLMAP):c.652G>A (p.Glu218Lys)
|
rs1577820022
|
|
NM_001377540.1(SLMAP):c.655G>C (p.Val219Leu)
|
|
|
NM_001377540.1(SLMAP):c.666C>T (p.Asn222=)
|
|
|
NM_001377540.1(SLMAP):c.703A>G (p.Ser235Gly)
|
rs774215191
|
|
NM_001377540.1(SLMAP):c.70C>T (p.Leu24=)
|
|
|
NM_001377540.1(SLMAP):c.711A>C (p.Arg237=)
|
rs1577883528
|
|
NM_001377540.1(SLMAP):c.720T>G (p.Leu240=)
|
|
|
NM_001377540.1(SLMAP):c.732del (p.Glu245fs)
|
|
|
NM_001377540.1(SLMAP):c.771C>T (p.Ser257=)
|
rs1060504850
|
|
NM_001377540.1(SLMAP):c.776G>A (p.Arg259Lys)
|
rs2153599158
|
|
NM_001377540.1(SLMAP):c.790G>C (p.Glu264Gln)
|
rs2153599173
|
|
NM_001377540.1(SLMAP):c.79C>G (p.Pro27Ala)
|
|
|
NM_001377540.1(SLMAP):c.809G>C (p.Arg270Thr)
|
|
|
NM_001377540.1(SLMAP):c.820G>C (p.Glu274Gln)
|
|
|
NM_001377540.1(SLMAP):c.826G>A (p.Glu276Lys)
|
|
|
NM_001377540.1(SLMAP):c.828+16A>G
|
|
|
NM_001377540.1(SLMAP):c.828+21del
|
rs760021345
|
|
NM_001377540.1(SLMAP):c.828+21dup
|
rs760021345
|
|
NM_001377540.1(SLMAP):c.828+8A>G
|
|
|
NM_001377540.1(SLMAP):c.829-5C>T
|
|
|
NM_001377540.1(SLMAP):c.829-7A>T
|
|
|
NM_001377540.1(SLMAP):c.832A>G (p.Ser278Gly)
|
|
|
NM_001377540.1(SLMAP):c.852T>G (p.Asp284Glu)
|
rs2153600640
|
|
NM_001377540.1(SLMAP):c.875T>C (p.Met292Thr)
|
|
|
NM_001377540.1(SLMAP):c.878A>G (p.Asn293Ser)
|
|
|
NM_001377540.1(SLMAP):c.897A>G (p.Glu299=)
|
|
|
NM_001377540.1(SLMAP):c.906del (p.Glu302fs)
|
|
|
NM_001377540.1(SLMAP):c.925G>A (p.Gly309Arg)
|
|
|
NM_001377540.1(SLMAP):c.928G>A (p.Ala310Thr)
|
rs754387957
|
|
NM_001377540.1(SLMAP):c.929C>T (p.Ala310Val)
|
|
|
NM_001377540.1(SLMAP):c.937G>A (p.Glu313Lys)
|
|
|
NM_001377540.1(SLMAP):c.941T>G (p.Ile314Ser)
|
rs779312973
|
|
NM_001377540.1(SLMAP):c.966+15T>A
|
|
|
NM_001377540.1(SLMAP):c.966+4T>A
|
rs2095093240
|
|
NM_001377540.1(SLMAP):c.987G>A (p.Glu329=)
|
rs755478717
|
|
NM_001377540.1(SLMAP):c.990A>C (p.Glu330Asp)
|
|
|
NM_001377540.1(SLMAP):c.990A>T (p.Glu330Asp)
|
|
|
NM_001377540.1(SLMAP):c.9A>T (p.Ser3=)
|
|
|
NM_004982.4(KCNJ8):c.1055G>A (p.Arg352Gln)
|
|
|
NM_004982.4(KCNJ8):c.1055G>T (p.Arg352Leu)
|
rs747622709
|
|
NM_004982.4(KCNJ8):c.1066C>A (p.Arg356=)
|
rs778531267
|
|
NM_004982.4(KCNJ8):c.1067G>A (p.Arg356Gln)
|
|
|
NM_004982.4(KCNJ8):c.1070A>G (p.Glu357Gly)
|
rs1591883003
|
|
NM_004982.4(KCNJ8):c.1104C>T (p.Thr368=)
|
|
|
NM_004982.4(KCNJ8):c.1122G>A (p.Leu374=)
|
|
|
NM_004982.4(KCNJ8):c.112G>T (p.Ala38Ser)
|
rs1555172510
|
|
NM_004982.4(KCNJ8):c.1143G>A (p.Arg381=)
|
|
|
NM_004982.4(KCNJ8):c.1148G>A (p.Arg383His)
|
rs764730358
|
|
NM_004982.4(KCNJ8):c.1156A>C (p.Met386Leu)
|
|
|
NM_004982.4(KCNJ8):c.1176G>A (p.Met392Ile)
|
rs1940604697
|
|
NM_004982.4(KCNJ8):c.1179_1196dup (p.Ile398_Ser403dup)
|
rs2137047060
|
|
NM_004982.4(KCNJ8):c.1182G>C (p.Arg394Ser)
|
rs730880120
|
|
NM_004982.4(KCNJ8):c.1205A>G (p.Asn402Ser)
|
|
|
NM_004982.4(KCNJ8):c.1218G>A (p.Met406Ile)
|
rs1591882812
|
|
NM_004982.4(KCNJ8):c.1232A>C (p.Gln411Pro)
|
rs1940602689
|
|
NM_004982.4(KCNJ8):c.1236T>G (p.Phe412Leu)
|
|
|
NM_004982.4(KCNJ8):c.1243_1244del (p.Pro415fs)
|
|
|
NM_004982.4(KCNJ8):c.1257A>G (p.Gln419=)
|
rs751945188
|
|
NM_004982.4(KCNJ8):c.132C>T (p.Asn44=)
|
|
|
NM_004982.4(KCNJ8):c.137C>T (p.Ala46Val)
|
rs1565662161
|
|
NM_004982.4(KCNJ8):c.18T>C (p.Ser6=)
|
|
|
NM_004982.4(KCNJ8):c.192G>C (p.Leu64Phe)
|
|
|
NM_004982.4(KCNJ8):c.198C>T (p.Asp66=)
|
rs2137051977
|
|
NM_004982.4(KCNJ8):c.265A>G (p.Ile89Val)
|
|
|
NM_004982.4(KCNJ8):c.290C>A (p.Ala97Asp)
|
rs1940805358
|
|
NM_004982.4(KCNJ8):c.2dup (p.Met1fs)
|
|
|
NM_004982.4(KCNJ8):c.306T>C (p.Tyr102=)
|
rs752928813
|
|
NM_004982.4(KCNJ8):c.328A>C (p.Met110Leu)
|
|
|
NM_004982.4(KCNJ8):c.353C>G (p.Thr118Ser)
|
rs770087869
|
|
NM_004982.4(KCNJ8):c.36T>C (p.Tyr12=)
|
rs1482460942
|
|
NM_004982.4(KCNJ8):c.374+8T>C
|
|
|
NM_004982.4(KCNJ8):c.375-11A>C
|
|
|
NM_004982.4(KCNJ8):c.381C>G (p.Phe127Leu)
|
|
|
NM_004982.4(KCNJ8):c.387T>C (p.Ser129=)
|
|
|
NM_004982.4(KCNJ8):c.45G>A (p.Ala15=)
|
rs1162681542
|
|
NM_004982.4(KCNJ8):c.471G>A (p.Thr157=)
|
rs143319002
|
|
NM_004982.4(KCNJ8):c.471G>C (p.Thr157=)
|
rs143319002
|
|
NM_004982.4(KCNJ8):c.483C>T (p.Leu161=)
|
|
|
NM_004982.4(KCNJ8):c.55G>A (p.Ala19Thr)
|
|
|
NM_004982.4(KCNJ8):c.583C>T (p.Arg195Cys)
|
rs1940624368
|
|
NM_004982.4(KCNJ8):c.584G>A (p.Arg195His)
|
|
|
NM_004982.4(KCNJ8):c.586C>T (p.His196Tyr)
|
|
|
NM_004982.4(KCNJ8):c.591T>A (p.Ala197=)
|
rs145490575
|
|
NM_004982.4(KCNJ8):c.631C>A (p.Arg211=)
|
|
|
NM_004982.4(KCNJ8):c.635T>C (p.Val212Ala)
|
|
|
NM_004982.4(KCNJ8):c.642C>T (p.Asp214=)
|
rs2137047449
|
|
NM_004982.4(KCNJ8):c.648G>A (p.Arg216=)
|
rs2137047441
|
|
NM_004982.4(KCNJ8):c.66G>A (p.Leu22=)
|
|
|
NM_004982.4(KCNJ8):c.66G>T (p.Leu22=)
|
|
|
NM_004982.4(KCNJ8):c.693G>A (p.Lys231=)
|
|
|
NM_004982.4(KCNJ8):c.719T>C (p.Val240Ala)
|
rs146747000
|
|
NM_004982.4(KCNJ8):c.71_79dup (p.Lys24_Arg26dup)
|
rs1447944616
|
|
NM_004982.4(KCNJ8):c.753T>G (p.Asp251Glu)
|
|
|
NM_004982.4(KCNJ8):c.757C>A (p.Pro253Thr)
|
|
|
NM_004982.4(KCNJ8):c.760A>G (p.Ile254Val)
|
rs1235054283
|
|
NM_004982.4(KCNJ8):c.762C>A (p.Ile254=)
|
|
|
NM_004982.4(KCNJ8):c.765G>C (p.Glu255Asp)
|
|
|
NM_004982.4(KCNJ8):c.768C>T (p.Ser256=)
|
|
|
NM_004982.4(KCNJ8):c.778T>C (p.Phe260Leu)
|
rs1940616222
|
|
NM_004982.4(KCNJ8):c.801C>T (p.Ile267=)
|
|
|
NM_004982.4(KCNJ8):c.808G>A (p.Val270Met)
|
|
|
NM_004982.4(KCNJ8):c.819G>A (p.Lys273=)
|
rs1940614320
|
|
NM_004982.4(KCNJ8):c.83G>C (p.Arg28Pro)
|
rs768851540
|
|
NM_004982.4(KCNJ8):c.88C>A (p.Arg30Ser)
|
rs749697322
|
|
NM_004982.4(KCNJ8):c.88C>T (p.Arg30Cys)
|
rs749697322
|
|
NM_004982.4(KCNJ8):c.914T>A (p.Ile305Asn)
|
|
|
NM_004982.4(KCNJ8):c.94C>T (p.Pro32Ser)
|
rs2137052056
|
|
NM_004982.4(KCNJ8):c.953T>G (p.Ile318Ser)
|
|
|
NM_004982.4(KCNJ8):c.956A>T (p.Gln319Leu)
|
|
|
NM_004982.4(KCNJ8):c.969C>A (p.Arg323=)
|
rs1311193970
|
|
NM_004982.4(KCNJ8):c.980T>C (p.Ile327Thr)
|
rs1940609307
|
|
NM_005472.5(KCNE3):c.102G>T (p.Gly34=)
|
|
|
NM_005472.5(KCNE3):c.103C>T (p.Pro35Ser)
|
|
|
NM_005472.5(KCNE3):c.104C>T (p.Pro35Leu)
|
|
|
NM_005472.5(KCNE3):c.134A>C (p.Glu45Ala)
|
rs764834315
|
|
NM_005472.5(KCNE3):c.138G>A (p.Arg46=)
|
|
|
NM_005472.5(KCNE3):c.139C>G (p.Arg47Gly)
|
|
|
NM_005472.5(KCNE3):c.139C>T (p.Arg47Trp)
|
|
|
NM_005472.5(KCNE3):c.140G>A (p.Arg47Gln)
|
|
|
NM_005472.5(KCNE3):c.157C>T (p.Arg53Cys)
|
|
|
NM_005472.5(KCNE3):c.158G>T (p.Arg53Leu)
|
rs565287436
|
|
NM_005472.5(KCNE3):c.159T>C (p.Arg53=)
|
rs2135003784
|
|
NM_005472.5(KCNE3):c.162T>C (p.Asp54=)
|
|
|
NM_005472.5(KCNE3):c.173A>G (p.Tyr58Cys)
|
|
|
NM_005472.5(KCNE3):c.175A>C (p.Met59Leu)
|
rs1555108630
|
|
NM_005472.5(KCNE3):c.195G>A (p.Met65Ile)
|
|
|
NM_005472.5(KCNE3):c.215T>G (p.Val72Gly)
|
rs202036216
|
|
NM_005472.5(KCNE3):c.22G>T (p.Glu8Ter)
|
|
|
NM_005472.5(KCNE3):c.242G>A (p.Arg81His)
|
|
|
NM_005472.5(KCNE3):c.247C>T (p.Arg83Cys)
|
|
|
NM_005472.5(KCNE3):c.248G>C (p.Arg83Pro)
|
rs17215437
|
|
NM_005472.5(KCNE3):c.254T>C (p.Val85Ala)
|
|
|
NM_005472.5(KCNE3):c.25A>G (p.Thr9Ala)
|
rs2135004508
|
|
NM_005472.5(KCNE3):c.277C>T (p.His93Tyr)
|
|
|
NM_005472.5(KCNE3):c.278_279del (p.His93fs)
|
|
|
NM_005472.5(KCNE3):c.279T>A (p.His93Gln)
|
rs199972628
|
|
NM_005472.5(KCNE3):c.279T>C (p.His93=)
|
rs199972628
|
|
NM_005472.5(KCNE3):c.27C>G (p.Thr9=)
|
|
|
NM_005472.5(KCNE3):c.282G>A (p.Val94=)
|
|
|
NM_005472.5(KCNE3):c.295C>T (p.Arg99Cys)
|
|
|
NM_005472.5(KCNE3):c.309C>T (p.Ile103=)
|
|
|
NM_005472.5(KCNE3):c.310T>C (p.Ter104Gln)
|
rs141695803
|
|
NM_005472.5(KCNE3):c.35A>G (p.Glu12Gly)
|
rs2135004460
|
|
NM_005472.5(KCNE3):c.40C>A (p.Leu14Met)
|
|
|
NM_005472.5(KCNE3):c.46G>A (p.Ala16Thr)
|
|
|
NM_005472.5(KCNE3):c.52C>T (p.Leu18=)
|
|
|
NM_005472.5(KCNE3):c.69del (p.Thr24fs)
|
rs547172459
|
|
NM_005472.5(KCNE3):c.83A>G (p.Asn28Ser)
|
|
|
NM_005472.5(KCNE3):c.92G>A (p.Cys31Tyr)
|
|
|
NM_005477.3(HCN4):c.1000A>G (p.Lys334Glu)
|
rs1316189390
|
|
NM_005477.3(HCN4):c.1004T>G (p.Met335Arg)
|
|
|
NM_005477.3(HCN4):c.1008G>A (p.Lys336=)
|
|
|
NM_005477.3(HCN4):c.1009T>C (p.Tyr337His)
|
|
|
NM_005477.3(HCN4):c.1018A>G (p.Ser340Gly)
|
|
|
NM_005477.3(HCN4):c.1020C>T (p.Ser340=)
|
|
|
NM_005477.3(HCN4):c.1023G>C (p.Trp341Cys)
|
rs1555477308
|
|
NM_005477.3(HCN4):c.1026C>G (p.Phe342Leu)
|
rs2043017188
|
|
NM_005477.3(HCN4):c.1027A>T (p.Met343Leu)
|
|
|
NM_005477.3(HCN4):c.1038C>T (p.Phe346=)
|
|
|
NM_005477.3(HCN4):c.1044C>G (p.Ser348=)
|
rs2151221193
|
|
NM_005477.3(HCN4):c.1044C>T (p.Ser348=)
|
|
|
NM_005477.3(HCN4):c.1053del (p.Val352fs)
|
|
|
NM_005477.3(HCN4):c.1054G>A (p.Val352Met)
|
rs1170518463
|
|
NM_005477.3(HCN4):c.1061A>G (p.Tyr354Cys)
|
rs2151221183
|
|
NM_005477.3(HCN4):c.1063A>G (p.Ile355Val)
|
|
|
NM_005477.3(HCN4):c.1069C>G (p.Leu357Val)
|
|
|
NM_005477.3(HCN4):c.106G>A (p.Gly36Arg)
|
rs886039001
|
|
NM_005477.3(HCN4):c.106G>C (p.Gly36Arg)
|
rs886039001
|
|
NM_005477.3(HCN4):c.1070T>A (p.Leu357His)
|
rs2043016942
|
|
NM_005477.3(HCN4):c.1074T>A (p.Ile358=)
|
rs1444977026
|
|
NM_005477.3(HCN4):c.107G>T (p.Gly36Val)
|
|
|
NM_005477.3(HCN4):c.1084C>T (p.Arg362Cys)
|
|
|
NM_005477.3(HCN4):c.1085G>A (p.Arg362His)
|
|
|
NM_005477.3(HCN4):c.108G>A (p.Gly36=)
|
|
|
NM_005477.3(HCN4):c.1090G>C (p.Asp364His)
|
rs151004999
|
|
NM_005477.3(HCN4):c.1090G>T (p.Asp364Tyr)
|
rs151004999
|
|
NM_005477.3(HCN4):c.10C>T (p.Leu4=)
|
|
|
NM_005477.3(HCN4):c.1101C>G (p.Val367=)
|
|
|
NM_005477.3(HCN4):c.1103A>G (p.Tyr368Cys)
|
rs2043016672
|
|
NM_005477.3(HCN4):c.1104C>T (p.Tyr368=)
|
|
|
NM_005477.3(HCN4):c.110C>A (p.Ala37Asp)
|
|
|
NM_005477.3(HCN4):c.110C>T (p.Ala37Val)
|
|
|
NM_005477.3(HCN4):c.1114C>A (p.Arg372=)
|
|
|
NM_005477.3(HCN4):c.1115G>C (p.Arg372Pro)
|
|
|
NM_005477.3(HCN4):c.111C>T (p.Ala37=)
|
|
|
NM_005477.3(HCN4):c.1120C>T (p.Leu374=)
|
rs779213932
|
|
NM_005477.3(HCN4):c.1121T>C (p.Leu374Pro)
|
|
|
NM_005477.3(HCN4):c.1124G>A (p.Arg375His)
|
rs1238684043
|
|
NM_005477.3(HCN4):c.1126A>G (p.Ile376Val)
|
|
|
NM_005477.3(HCN4):c.1133G>A (p.Arg378His)
|
rs1347790774
|
|
NM_005477.3(HCN4):c.1137C>T (p.Phe379=)
|
|
|
NM_005477.3(HCN4):c.1139C>T (p.Thr380Met)
|
|
|
NM_005477.3(HCN4):c.113_119dup (p.Gln41fs)
|
|
|
NM_005477.3(HCN4):c.1158dup (p.Arg387fs)
|
rs2151221157
|
|
NM_005477.3(HCN4):c.1159C>G (p.Arg387Gly)
|
rs1420807618
|
|
NM_005477.3(HCN4):c.1159C>T (p.Arg387Cys)
|
rs1420807618
|
|
NM_005477.3(HCN4):c.1167dup (p.Arg390fs)
|
rs2043016217
|
|
NM_005477.3(HCN4):c.1168C>T (p.Arg390Cys)
|
rs918783630
|
|
NM_005477.3(HCN4):c.1178G>A (p.Arg393His)
|
rs786205804
|
|
NM_005477.3(HCN4):c.1188A>G (p.Arg396=)
|
|
|
NM_005477.3(HCN4):c.1190A>C (p.Tyr397Ser)
|
rs2043016094
|
|
NM_005477.3(HCN4):c.119G>A (p.Arg40His)
|
|
|
NM_005477.3(HCN4):c.1209+15C>A
|
|
|
NM_005477.3(HCN4):c.1209+17A>G
|
|
|
NM_005477.3(HCN4):c.1209+19C>A
|
|
|
NM_005477.3(HCN4):c.1209+20C>T
|
|
|
NM_005477.3(HCN4):c.1209+2_1209+3insGTGA
|
rs786205418
|
|
NM_005477.3(HCN4):c.1209+3A>G
|
|
|
NM_005477.3(HCN4):c.1209+4A>G
|
rs2043015976
|
|
NM_005477.3(HCN4):c.1209+7G>C
|
|
|
NM_005477.3(HCN4):c.1210-10C>T
|
|
|
NM_005477.3(HCN4):c.1210-11T>C
|
|
|
NM_005477.3(HCN4):c.1210-18CTC[2]
|
|
|
NM_005477.3(HCN4):c.1210-8G>T
|
rs2151217837
|
|
NM_005477.3(HCN4):c.1215C>T (p.Phe405=)
|
|
|
NM_005477.3(HCN4):c.1231C>G (p.Leu411Val)
|
|
|
NM_005477.3(HCN4):c.1240G>A (p.Ala414Thr)
|
rs750638846
|
|
NM_005477.3(HCN4):c.1241C>T (p.Ala414Val)
|
|
|
NM_005477.3(HCN4):c.1246G>T (p.Val416Leu)
|
rs1360500444
|
|
NM_005477.3(HCN4):c.1248G>A (p.Val416=)
|
|
|
NM_005477.3(HCN4):c.1249C>T (p.Arg417Cys)
|
|
|
NM_005477.3(HCN4):c.1250G>A (p.Arg417His)
|
rs981385410
|
|
NM_005477.3(HCN4):c.1255G>A (p.Val419Met)
|
|
|
NM_005477.3(HCN4):c.1256T>G (p.Val419Gly)
|
|
|
NM_005477.3(HCN4):c.1257G>T (p.Val419=)
|
rs762683752
|
|
NM_005477.3(HCN4):c.1261C>T (p.Leu421Phe)
|
|
|
NM_005477.3(HCN4):c.1267G>A (p.Gly423Ser)
|
|
|
NM_005477.3(HCN4):c.126C>T (p.Asp42=)
|
|
|
NM_005477.3(HCN4):c.1278C>G (p.Leu426=)
|
rs759253428
|
|
NM_005477.3(HCN4):c.1278C>T (p.Leu426=)
|
|
|
NM_005477.3(HCN4):c.1281G>T (p.Leu427=)
|
|
|
NM_005477.3(HCN4):c.1284C>T (p.Leu428=)
|
rs776253703
|
|
NM_005477.3(HCN4):c.1290C>T (p.His430=)
|
|
|
NM_005477.3(HCN4):c.1296C>T (p.Asp432=)
|
rs1419553195
|
|
NM_005477.3(HCN4):c.1308G>A (p.Gln436=)
|
rs1567777058
|
|
NM_005477.3(HCN4):c.1308G>T (p.Gln436His)
|
rs1567777058
|
|
NM_005477.3(HCN4):c.130A>C (p.Ser44Arg)
|
rs2043138506
|
|
NM_005477.3(HCN4):c.1312C>T (p.Leu438=)
|
|
|
NM_005477.3(HCN4):c.1315G>A (p.Val439Ile)
|
|
|
NM_005477.3(HCN4):c.1315G>C (p.Val439Leu)
|
rs769157750
|
|
NM_005477.3(HCN4):c.131G>A (p.Ser44Asn)
|
rs2151228715
|
|
NM_005477.3(HCN4):c.132C>T (p.Ser44=)
|
rs2151228712
|
|
NM_005477.3(HCN4):c.133C>A (p.Arg45Ser)
|
|
|
NM_005477.3(HCN4):c.1342G>A (p.Asp448Asn)
|
|
|
NM_005477.3(HCN4):c.1349G>C (p.Trp450Ser)
|
rs1567776985
|
|
NM_005477.3(HCN4):c.1355C>T (p.Ser452Phe)
|
|
|
NM_005477.3(HCN4):c.1357A>G (p.Ile453Val)
|
rs1394017911
|
|
NM_005477.3(HCN4):c.1368G>A (p.Met456Ile)
|
|
|
NM_005477.3(HCN4):c.136A>G (p.Arg46Gly)
|
|
|
NM_005477.3(HCN4):c.1371+12C>T
|
|
|
NM_005477.3(HCN4):c.1371+16C>T
|
|
|
NM_005477.3(HCN4):c.1371+17C>T
|
|
|
NM_005477.3(HCN4):c.1371+18G>A
|
|
|
NM_005477.3(HCN4):c.1371+19G>A
|
|
|
NM_005477.3(HCN4):c.1371+7G>A
|
|
|
NM_005477.3(HCN4):c.1371+9G>T
|
|
|
NM_005477.3(HCN4):c.1372-15T>A
|
|
|
NM_005477.3(HCN4):c.1372-18C>A
|
|
|
NM_005477.3(HCN4):c.1372-6C>T
|
|
|
NM_005477.3(HCN4):c.1372-8G>C
|
|
|
NM_005477.3(HCN4):c.1381T>G (p.Trp461Gly)
|
|
|
NM_005477.3(HCN4):c.1382G>T (p.Trp461Leu)
|
|
|
NM_005477.3(HCN4):c.1386G>A (p.Gly462=)
|
|
|
NM_005477.3(HCN4):c.1387A>G (p.Lys463Glu)
|
|
|
NM_005477.3(HCN4):c.1388A>G (p.Lys463Arg)
|
rs2151217077
|
|
NM_005477.3(HCN4):c.1390C>T (p.Gln464Ter)
|
|
|
NM_005477.3(HCN4):c.13C>T (p.Pro5Ser)
|
|
|
NM_005477.3(HCN4):c.1407C>G (p.Leu469=)
|
rs2151217065
|
|
NM_005477.3(HCN4):c.140G>A (p.Ser47Asn)
|
|
|
NM_005477.3(HCN4):c.1414G>A (p.Ala472Thr)
|
|
|
NM_005477.3(HCN4):c.1415C>T (p.Ala472Val)
|
|
|
NM_005477.3(HCN4):c.1417A>G (p.Met473Val)
|
|
|
NM_005477.3(HCN4):c.1418T>C (p.Met473Thr)
|
rs1226036490
|
|
NM_005477.3(HCN4):c.1419G>A (p.Met473Ile)
|
rs1060500105
|
|
NM_005477.3(HCN4):c.141C>T (p.Ser47=)
|
rs2151228709
|
|
NM_005477.3(HCN4):c.1421G>A (p.Ser474Asn)
|
rs2151217059
|
|
NM_005477.3(HCN4):c.1424A>G (p.His475Arg)
|
rs2042921913
|
|
NM_005477.3(HCN4):c.1427T>C (p.Met476Thr)
|
|
|
NM_005477.3(HCN4):c.1429C>T (p.Leu477=)
|
|
|
NM_005477.3(HCN4):c.1430T>C (p.Leu477Pro)
|
|
|
NM_005477.3(HCN4):c.1438G>A (p.Gly480Ser)
|
rs121908411
|
|
NM_005477.3(HCN4):c.1439G>T (p.Gly480Val)
|
rs1060500103
|
|
NM_005477.3(HCN4):c.1441T>C (p.Tyr481His)
|
rs1057519275
|
|
NM_005477.3(HCN4):c.1442A>G (p.Tyr481Cys)
|
rs2151217044
|
|
NM_005477.3(HCN4):c.1442_1443delinsTG (p.Tyr481Leu)
|
|
|
NM_005477.3(HCN4):c.1444G>A (p.Gly482Arg)
|
rs794727637
|
|
NM_005477.3(HCN4):c.144C>G (p.Ile48Met)
|
|
|
NM_005477.3(HCN4):c.144C>T (p.Ile48=)
|
rs776352142
|
|
NM_005477.3(HCN4):c.1455G>T (p.Ala485=)
|
rs148875639
|
|
NM_005477.3(HCN4):c.1456C>T (p.Pro486Ser)
|
rs2151217024
|
|
NM_005477.3(HCN4):c.145C>G (p.Arg49Gly)
|
|
|
NM_005477.3(HCN4):c.1467G>A (p.Met489Ile)
|
rs771198178
|
|
NM_005477.3(HCN4):c.146G>C (p.Arg49Pro)
|
|
|
NM_005477.3(HCN4):c.1470C>T (p.Ser490=)
|
|
|
NM_005477.3(HCN4):c.1471G>A (p.Asp491Asn)
|
rs1060500107
|
|
NM_005477.3(HCN4):c.1471G>C (p.Asp491His)
|
rs1060500107
|
|
NM_005477.3(HCN4):c.1480C>T (p.Leu494Phe)
|
rs2151217007
|
|
NM_005477.3(HCN4):c.1485C>A (p.Thr495=)
|
rs2151217005
|
|
NM_005477.3(HCN4):c.1494C>A (p.Ser498Arg)
|
rs1567774949
|
|
NM_005477.3(HCN4):c.1494C>G (p.Ser498Arg)
|
rs1567774949
|
|
NM_005477.3(HCN4):c.1496T>C (p.Met499Thr)
|
|
|
NM_005477.3(HCN4):c.1500C>T (p.Ile500=)
|
|
|
NM_005477.3(HCN4):c.1501G>A (p.Val501Met)
|
|
|
NM_005477.3(HCN4):c.1509C>T (p.Ala503=)
|
rs1060503837
|
|
NM_005477.3(HCN4):c.1511C>A (p.Thr504Asn)
|
rs1595822914
|
|
NM_005477.3(HCN4):c.1514G>A (p.Cys505Tyr)
|
|
|
NM_005477.3(HCN4):c.151C>T (p.Arg51Trp)
|
rs1555479061
|
|
NM_005477.3(HCN4):c.1521C>T (p.Ala507=)
|
|
|
NM_005477.3(HCN4):c.1522A>G (p.Met508Val)
|
|
|
NM_005477.3(HCN4):c.1533C>A (p.Gly511=)
|
rs2151216991
|
|
NM_005477.3(HCN4):c.153G>A (p.Arg51=)
|
|
|
NM_005477.3(HCN4):c.1548C>T (p.Leu516=)
|
rs1060503838
|
|
NM_005477.3(HCN4):c.1551C>T (p.Ile517=)
|
|
|
NM_005477.3(HCN4):c.1557C>T (p.Ser519=)
|
rs1555475972
|
|
NM_005477.3(HCN4):c.155C>T (p.Pro52Leu)
|
|
|
NM_005477.3(HCN4):c.1569C>A (p.Ser523=)
|
|
|
NM_005477.3(HCN4):c.156A>T (p.Pro52=)
|
|
|
NM_005477.3(HCN4):c.1570C>T (p.Arg524Trp)
|
|
|
NM_005477.3(HCN4):c.1572G>T (p.Arg524=)
|
rs2151216969
|
|
NM_005477.3(HCN4):c.1574G>A (p.Arg525His)
|
|
|
NM_005477.3(HCN4):c.157C>T (p.Leu53=)
|
rs1595837657
|
|
NM_005477.3(HCN4):c.1590+11C>T
|
|
|
NM_005477.3(HCN4):c.1590+16G>A
|
|
|
NM_005477.3(HCN4):c.1590+1G>A
|
|
|
NM_005477.3(HCN4):c.1590+7C>G
|
rs1595822862
|
|
NM_005477.3(HCN4):c.1590+9A>G
|
|
|
NM_005477.3(HCN4):c.1590G>C (p.Lys530Asn)
|
rs1555475961
|
|
NM_005477.3(HCN4):c.1591-13C>T
|
|
|
NM_005477.3(HCN4):c.1591-16C>T
|
|
|
NM_005477.3(HCN4):c.1591-16dup
|
|
|
NM_005477.3(HCN4):c.1591-18C>G
|
|
|
NM_005477.3(HCN4):c.1591-1G>C
|
rs2042893660
|
|
NM_005477.3(HCN4):c.1591-20C>T
|
|
|
NM_005477.3(HCN4):c.1591-38_1591-15del
|
rs768333616
|
|
NM_005477.3(HCN4):c.1597_1608del (p.Gln533_Gln536del)
|
|
|
NM_005477.3(HCN4):c.1600G>A (p.Val534Met)
|
rs2042893576
|
|
NM_005477.3(HCN4):c.1612A>C (p.Met538Leu)
|
|
|
NM_005477.3(HCN4):c.161C>T (p.Pro54Leu)
|
|
|
NM_005477.3(HCN4):c.1626G>A (p.Lys542=)
|
|
|
NM_005477.3(HCN4):c.1631C>T (p.Pro544Leu)
|
|
|
NM_005477.3(HCN4):c.1634C>T (p.Pro545Leu)
|
rs2151215654
|
|
NM_005477.3(HCN4):c.1635C>A (p.Pro545=)
|
|
|
NM_005477.3(HCN4):c.1635C>G (p.Pro545=)
|
|
|
NM_005477.3(HCN4):c.1638C>T (p.Asp546=)
|
|
|
NM_005477.3(HCN4):c.1642C>G (p.Arg548Gly)
|
|
|
NM_005477.3(HCN4):c.1642C>T (p.Arg548Trp)
|
rs2042893178
|
|
NM_005477.3(HCN4):c.1643G>A (p.Arg548Gln)
|
|
|
NM_005477.3(HCN4):c.1649G>A (p.Arg550His)
|
|
|
NM_005477.3(HCN4):c.1650C>T (p.Arg550=)
|
rs770563340
|
|
NM_005477.3(HCN4):c.165G>T (p.Ser55=)
|
|
|
NM_005477.3(HCN4):c.1666G>A (p.Glu556Lys)
|
rs764177769
|
|
NM_005477.3(HCN4):c.1668G>A (p.Glu556=)
|
rs2151215619
|
|
NM_005477.3(HCN4):c.1672C>T (p.Arg558Cys)
|
|
|
NM_005477.3(HCN4):c.1677C>G (p.Tyr559Ter)
|
|
|
NM_005477.3(HCN4):c.167C>T (p.Pro56Leu)
|
|
|
NM_005477.3(HCN4):c.1682G>A (p.Gly561Asp)
|
|
|
NM_005477.3(HCN4):c.1686G>A (p.Lys562=)
|
|
|
NM_005477.3(HCN4):c.1688T>C (p.Met563Thr)
|
|
|
NM_005477.3(HCN4):c.1688T>G (p.Met563Arg)
|
|
|
NM_005477.3(HCN4):c.168C>T (p.Pro56=)
|
|
|
NM_005477.3(HCN4):c.1691del (p.Phe564fs)
|
|
|
NM_005477.3(HCN4):c.1693G>C (p.Asp565His)
|
rs201811340
|
|
NM_005477.3(HCN4):c.1696G>A (p.Glu566Lys)
|
rs1480242620
|
|
NM_005477.3(HCN4):c.1696G>T (p.Glu566Ter)
|
|
|
NM_005477.3(HCN4):c.16C>T (p.Pro6Ser)
|
|
|
NM_005477.3(HCN4):c.1701G>A (p.Glu567=)
|
|
|
NM_005477.3(HCN4):c.1704C>T (p.Ser568=)
|
rs2151215591
|
|
NM_005477.3(HCN4):c.1706T>C (p.Ile569Thr)
|
|
|
NM_005477.3(HCN4):c.1710G>A (p.Leu570=)
|
|
|
NM_005477.3(HCN4):c.1711G>T (p.Gly571Cys)
|
|
|
NM_005477.3(HCN4):c.171C>A (p.Ser57=)
|
rs2151228694
|
|
NM_005477.3(HCN4):c.1723G>A (p.Glu575Lys)
|
|
|
NM_005477.3(HCN4):c.1728C>T (p.Pro576=)
|
rs1375255558
|
|
NM_005477.3(HCN4):c.172C>G (p.Pro58Ala)
|
|
|
NM_005477.3(HCN4):c.172C>T (p.Pro58Ser)
|
rs1029043200
|
|
NM_005477.3(HCN4):c.1731G>A (p.Leu577=)
|
|
|
NM_005477.3(HCN4):c.1733G>A (p.Arg578Gln)
|
|
|
NM_005477.3(HCN4):c.1737+10G>A
|
|
|
NM_005477.3(HCN4):c.1737+14C>T
|
|
|
NM_005477.3(HCN4):c.1737+16G>T
|
|
|
NM_005477.3(HCN4):c.1737+6C>T
|
rs2042892240
|
|
NM_005477.3(HCN4):c.1737G>A (p.Glu579=)
|
|
|
NM_005477.3(HCN4):c.1738-10T>C
|
|
|
NM_005477.3(HCN4):c.1738-11_1738-10del
|
|
|
NM_005477.3(HCN4):c.1738-13C>T
|
rs2151215519
|
|
NM_005477.3(HCN4):c.1738-17T>C
|
|
|
NM_005477.3(HCN4):c.1738-18A>G
|
rs2151215522
|
|
NM_005477.3(HCN4):c.1738-19A>C
|
rs1307654336
|
|
NM_005477.3(HCN4):c.1738-5G>T
|
rs2151215513
|
|
NM_005477.3(HCN4):c.1738-8T>C
|
rs2151215515
|
|
NM_005477.3(HCN4):c.1738-9G>A
|
|
|
NM_005477.3(HCN4):c.1738-9G>C
|
|
|
NM_005477.3(HCN4):c.1742TCA[1] (p.Ile582del)
|
|
|
NM_005477.3(HCN4):c.174C>G (p.Pro58=)
|
|
|
NM_005477.3(HCN4):c.174C>T (p.Pro58=)
|
rs920292438
|
|
NM_005477.3(HCN4):c.1759C>T (p.Arg587Trp)
|
|
|
NM_005477.3(HCN4):c.1770G>A (p.Val590=)
|
|
|
NM_005477.3(HCN4):c.1790C>T (p.Ala597Val)
|
|
|
NM_005477.3(HCN4):c.1793A>G (p.Asn598Ser)
|
|
|
NM_005477.3(HCN4):c.1794T>C (p.Asn598=)
|
rs1004749861
|
|
NM_005477.3(HCN4):c.179C>T (p.Ala60Val)
|
|
|
NM_005477.3(HCN4):c.17C>A (p.Pro6Gln)
|
rs772656493
|
|
NM_005477.3(HCN4):c.17C>G (p.Pro6Arg)
|
rs772656493
|
|
NM_005477.3(HCN4):c.1800C>T (p.Asp600=)
|
|
|
NM_005477.3(HCN4):c.1801C>T (p.Pro601Ser)
|
|
|
NM_005477.3(HCN4):c.1803C>T (p.Pro601=)
|
|
|
NM_005477.3(HCN4):c.1805A>G (p.Asn602Ser)
|
|
|
NM_005477.3(HCN4):c.1809C>A (p.Phe603Leu)
|
|
|
NM_005477.3(HCN4):c.1809C>T (p.Phe603=)
|
|
|
NM_005477.3(HCN4):c.1810G>A (p.Val604Met)
|
|
|
NM_005477.3(HCN4):c.1814C>T (p.Thr605Met)
|
|
|
NM_005477.3(HCN4):c.1817C>A (p.Ser606Tyr)
|
|
|
NM_005477.3(HCN4):c.1823T>C (p.Leu608Pro)
|
|
|
NM_005477.3(HCN4):c.182C>A (p.Ala61Asp)
|
|
|
NM_005477.3(HCN4):c.1834C>T (p.Arg612Cys)
|
|
|
NM_005477.3(HCN4):c.1835G>A (p.Arg612His)
|
|
|
NM_005477.3(HCN4):c.1837T>C (p.Phe613Leu)
|
|
|
NM_005477.3(HCN4):c.1842G>A (p.Glu614=)
|
|
|
NM_005477.3(HCN4):c.1844T>G (p.Val615Gly)
|
rs2042890755
|
|
NM_005477.3(HCN4):c.1846T>A (p.Phe616Ile)
|
|
|
NM_005477.3(HCN4):c.184G>C (p.Ala62Pro)
|
rs2151228688
|
|
NM_005477.3(HCN4):c.1858G>A (p.Asp620Asn)
|
rs2151215460
|
|
NM_005477.3(HCN4):c.185C>T (p.Ala62Val)
|
rs1595837637
|
|
NM_005477.3(HCN4):c.1864A>C (p.Ile622Leu)
|
|
|
NM_005477.3(HCN4):c.1866C>T (p.Ile622=)
|
|
|
NM_005477.3(HCN4):c.1870C>A (p.Arg624=)
|
|
|
NM_005477.3(HCN4):c.1870C>T (p.Arg624Trp)
|
rs545156905
|
|
NM_005477.3(HCN4):c.1895_1897del (p.Met632_Tyr633delinsAsn)
|
|
|
NM_005477.3(HCN4):c.18G>T (p.Pro6=)
|
rs771607645
|
|
NM_005477.3(HCN4):c.1905C>A (p.Ile635=)
|
|
|
NM_005477.3(HCN4):c.190G>A (p.Gly64Ser)
|
|
|
NM_005477.3(HCN4):c.1913G>T (p.Gly638Val)
|
rs2151215427
|
|
NM_005477.3(HCN4):c.1918G>A (p.Val640Ile)
|
rs2151215421
|
|
NM_005477.3(HCN4):c.191G>A (p.Gly64Asp)
|
|
|
NM_005477.3(HCN4):c.1921A>G (p.Ser641Gly)
|
|
|
NM_005477.3(HCN4):c.1926G>C (p.Val642=)
|
|
|
NM_005477.3(HCN4):c.1929C>T (p.Leu643=)
|
|
|
NM_005477.3(HCN4):c.1932C>G (p.Thr644=)
|
|
|
NM_005477.3(HCN4):c.1938CAA[1] (p.Asn647del)
|
|
|
NM_005477.3(HCN4):c.1943A>G (p.Lys648Arg)
|
|
|
NM_005477.3(HCN4):c.1948A>C (p.Thr650Pro)
|
rs2151215401
|
|
NM_005477.3(HCN4):c.1949C>G (p.Thr650Ser)
|
rs2151215400
|
|
NM_005477.3(HCN4):c.1959C>A (p.Ala653=)
|
rs371293769
|
|
NM_005477.3(HCN4):c.1960G>A (p.Asp654Asn)
|
|
|
NM_005477.3(HCN4):c.1964G>A (p.Gly655Asp)
|
|
|
NM_005477.3(HCN4):c.1966T>A (p.Ser656Thr)
|
|
|
NM_005477.3(HCN4):c.1966T>G (p.Ser656Ala)
|
rs377612051
|
|
NM_005477.3(HCN4):c.196G>A (p.Glu66Lys)
|
rs786205803
|
|
NM_005477.3(HCN4):c.196G>C (p.Glu66Gln)
|
rs786205803
|
|
NM_005477.3(HCN4):c.1970A>G (p.Tyr657Cys)
|
rs2042889743
|
|
NM_005477.3(HCN4):c.1971C>T (p.Tyr657=)
|
rs2042889723
|
|
NM_005477.3(HCN4):c.1978+10C>G
|
rs1595820799
|
|
NM_005477.3(HCN4):c.1978+11_1978+35del
|
rs1192127406
|
|
NM_005477.3(HCN4):c.1978+17_1978+23del
|
|
|
NM_005477.3(HCN4):c.1978+20T>C
|
|
|
NM_005477.3(HCN4):c.1978+3G>A
|
|
|
NM_005477.3(HCN4):c.1979-13G>C
|
|
|
NM_005477.3(HCN4):c.1979-16C>G
|
|
|
NM_005477.3(HCN4):c.1979-7C>T
|
|
|
NM_005477.3(HCN4):c.1995_2009del (p.Arg666_Thr670del)
|
rs2042885237
|
|
NM_005477.3(HCN4):c.1996C>G (p.Arg666Gly)
|
|
|
NM_005477.3(HCN4):c.1A>G (p.Met1Val)
|
|
|
NM_005477.3(HCN4):c.2002C>T (p.Arg668Trp)
|
rs2151215096
|
|
NM_005477.3(HCN4):c.200C>T (p.Ser67Phe)
|
|
|
NM_005477.3(HCN4):c.2010A>T (p.Thr670=)
|
|
|
NM_005477.3(HCN4):c.2013C>G (p.Ala671=)
|
|
|
NM_005477.3(HCN4):c.2017G>A (p.Val673Met)
|
rs1337923566
|
|
NM_005477.3(HCN4):c.2022G>A (p.Arg674=)
|
|
|
NM_005477.3(HCN4):c.2022_2054del (p.Arg674_Leu684del)
|
|
|
NM_005477.3(HCN4):c.2028C>T (p.Asp676=)
|
rs1060500102
|
|
NM_005477.3(HCN4):c.2030C>T (p.Thr677Ile)
|
|
|
NM_005477.3(HCN4):c.2033_2035del (p.Tyr678del)
|
rs2042884997
|
|
NM_005477.3(HCN4):c.2036G>A (p.Cys679Tyr)
|
rs2042884985
|
|
NM_005477.3(HCN4):c.2043C>T (p.Leu681=)
|
rs2151215067
|
|
NM_005477.3(HCN4):c.2048C>T (p.Ser683Leu)
|
rs2042884942
|
|
NM_005477.3(HCN4):c.2049G>A (p.Ser683=)
|
rs1407849744
|
|
NM_005477.3(HCN4):c.2052G>A (p.Leu684=)
|
rs765928740
|
|
NM_005477.3(HCN4):c.2056G>A (p.Val686Met)
|
rs550848544
|
|
NM_005477.3(HCN4):c.2061C>G (p.Asp687Glu)
|
|
|
NM_005477.3(HCN4):c.2062A>G (p.Asn688Asp)
|
rs2151215055
|
|
NM_005477.3(HCN4):c.2067C>T (p.Phe689=)
|
|
|
NM_005477.3(HCN4):c.2069A>T (p.Asn690Ile)
|
|
|
NM_005477.3(HCN4):c.2079G>C (p.Leu693=)
|
|
|
NM_005477.3(HCN4):c.2079_2080delinsTC (p.Glu694Gln)
|
|
|
NM_005477.3(HCN4):c.2082G>A (p.Glu694=)
|
|
|
NM_005477.3(HCN4):c.2090C>T (p.Pro697Leu)
|
rs931375055
|
|
NM_005477.3(HCN4):c.2091C>T (p.Pro697=)
|
|
|
NM_005477.3(HCN4):c.2099G>A (p.Arg700Gln)
|
|
|
NM_005477.3(HCN4):c.2107T>C (p.Phe703Leu)
|
|
|
NM_005477.3(HCN4):c.2110G>A (p.Glu704Lys)
|
|
|
NM_005477.3(HCN4):c.2115C>G (p.Thr705=)
|
rs201652877
|
|
NM_005477.3(HCN4):c.2116G>A (p.Val706Met)
|
rs1359396157
|
|
NM_005477.3(HCN4):c.2118G>A (p.Val706=)
|
|
|
NM_005477.3(HCN4):c.2120C>T (p.Ala707Val)
|
rs2151215028
|
|
NM_005477.3(HCN4):c.2122CTGGACCGC[1] (p.708LDR[1])
|
|
|
NM_005477.3(HCN4):c.2127C>T (p.Asp709=)
|
|
|
NM_005477.3(HCN4):c.2128C>T (p.Arg710Cys)
|
|
|
NM_005477.3(HCN4):c.2129G>A (p.Arg710His)
|
|
|
NM_005477.3(HCN4):c.2129G>T (p.Arg710Leu)
|
|
|
NM_005477.3(HCN4):c.212C>T (p.Ala71Val)
|
|
|
NM_005477.3(HCN4):c.2137C>T (p.Arg713Cys)
|
rs758371313
|
|
NM_005477.3(HCN4):c.2138G>A (p.Arg713His)
|
|
|
NM_005477.3(HCN4):c.2143+10del
|
|
|
NM_005477.3(HCN4):c.2143+13G>A
|
|
|
NM_005477.3(HCN4):c.2143+14del
|
|
|
NM_005477.3(HCN4):c.2143+17A>G
|
|
|
NM_005477.3(HCN4):c.2143+1G>A
|
rs1555475434
|
|
NM_005477.3(HCN4):c.2143+1G>C
|
|
|
NM_005477.3(HCN4):c.2143+5G>A
|
rs547362030
|
|
NM_005477.3(HCN4):c.2143+5G>C
|
|
|
NM_005477.3(HCN4):c.2143+5G>T
|
rs547362030
|
|
NM_005477.3(HCN4):c.2143+9G>A
|
|
|
NM_005477.3(HCN4):c.2143+9dup
|
rs1186303189
|
|
NM_005477.3(HCN4):c.2144-16T>G
|
|
|
NM_005477.3(HCN4):c.2144-17_2144-15del
|
|
|
NM_005477.3(HCN4):c.2144-6G>A
|
|
|
NM_005477.3(HCN4):c.2145C>T (p.Gly715=)
|
rs2151214956
|
|
NM_005477.3(HCN4):c.2147A>G (p.Lys716Arg)
|
|
|
NM_005477.3(HCN4):c.2148G>A (p.Lys716=)
|
rs376598019
|
|
NM_005477.3(HCN4):c.2148GAA[1] (p.Lys717del)
|
|
|
NM_005477.3(HCN4):c.214C>G (p.Leu72Val)
|
|
|
NM_005477.3(HCN4):c.214C>T (p.Leu72Phe)
|
rs2043137832
|
|
NM_005477.3(HCN4):c.2154C>T (p.Asn718=)
|
|
|
NM_005477.3(HCN4):c.2160C>A (p.Ile720=)
|
rs2151214945
|
|
NM_005477.3(HCN4):c.2163C>T (p.Leu721=)
|
|
|
NM_005477.3(HCN4):c.2164C>T (p.Leu722Phe)
|
|
|
NM_005477.3(HCN4):c.2166C>T (p.Leu722=)
|
|
|
NM_005477.3(HCN4):c.2185C>G (p.Leu729Val)
|
|
|
NM_005477.3(HCN4):c.2188A>C (p.Asn730His)
|
|
|
NM_005477.3(HCN4):c.220G>A (p.Ala74Thr)
|
|
|
NM_005477.3(HCN4):c.2211G>T (p.Gln737His)
|
|
|
NM_005477.3(HCN4):c.2212G>A (p.Glu738Lys)
|
rs1029680367
|
|
NM_005477.3(HCN4):c.2214G>A (p.Glu738=)
|
|
|
NM_005477.3(HCN4):c.2216A>G (p.Asn739Ser)
|
rs2042881779
|
|
NM_005477.3(HCN4):c.2224A>G (p.Ile742Val)
|
|
|
NM_005477.3(HCN4):c.2226C>T (p.Ile742=)
|
|
|
NM_005477.3(HCN4):c.2235T>A (p.Ile745=)
|
|
|
NM_005477.3(HCN4):c.2236G>A (p.Val746Met)
|
|
|
NM_005477.3(HCN4):c.2238G>A (p.Val746=)
|
|
|
NM_005477.3(HCN4):c.2241G>A (p.Gln747=)
|
rs1466739005
|
|
NM_005477.3(HCN4):c.2243A>G (p.His748Arg)
|
rs750677813
|
|
NM_005477.3(HCN4):c.2248C>T (p.Arg750Trp)
|
|
|
NM_005477.3(HCN4):c.2258C>T (p.Ala753Val)
|
|
|
NM_005477.3(HCN4):c.2269C>T (p.His757Tyr)
|
|
|
NM_005477.3(HCN4):c.2270A>G (p.His757Arg)
|
|
|
NM_005477.3(HCN4):c.2270_2274del (p.His757fs)
|
|
|
NM_005477.3(HCN4):c.2271C>T (p.His757=)
|
rs2151214846
|
|
NM_005477.3(HCN4):c.2274C>T (p.Arg758=)
|
rs749766433
|
|
NM_005477.3(HCN4):c.2284G>A (p.Ala762Thr)
|
|
|
NM_005477.3(HCN4):c.2286T>C (p.Ala762=)
|
|
|
NM_005477.3(HCN4):c.2288C>A (p.Ala763Asp)
|
rs375146815
|
|
NM_005477.3(HCN4):c.2288C>T (p.Ala763Val)
|
rs375146815
|
|
NM_005477.3(HCN4):c.2292T>G (p.Ser764=)
|
|
|
NM_005477.3(HCN4):c.2296A>G (p.Thr766Ala)
|
|
|
NM_005477.3(HCN4):c.2297C>T (p.Thr766Ile)
|
|
|
NM_005477.3(HCN4):c.22A>G (p.Met8Val)
|
|
|
NM_005477.3(HCN4):c.2305C>T (p.Pro769Ser)
|
|
|
NM_005477.3(HCN4):c.2313C>G (p.Pro771=)
|
|
|
NM_005477.3(HCN4):c.2314G>A (p.Val772Ile)
|
rs776635828
|
|
NM_005477.3(HCN4):c.2314G>C (p.Val772Leu)
|
rs776635828
|
|
NM_005477.3(HCN4):c.2317A>G (p.Ile773Val)
|
rs1173397954
|
|
NM_005477.3(HCN4):c.2330T>G (p.Leu777Arg)
|
|
|
NM_005477.3(HCN4):c.2331G>C (p.Leu777=)
|
rs1161004314
|
|
NM_005477.3(HCN4):c.2345T>G (p.Leu782Arg)
|
rs1567769296
|
|
NM_005477.3(HCN4):c.2346G>T (p.Leu782=)
|
rs939117369
|
|
NM_005477.3(HCN4):c.2350G>A (p.Ala784Thr)
|
rs1453283899
|
|
NM_005477.3(HCN4):c.235G>C (p.Gly79Arg)
|
|
|
NM_005477.3(HCN4):c.2361C>T (p.Ala787=)
|
|
|
NM_005477.3(HCN4):c.2373G>T (p.Val791=)
|
|
|
NM_005477.3(HCN4):c.2376C>G (p.Ala792=)
|
rs1333164922
|
|
NM_005477.3(HCN4):c.2381C>A (p.Ala794Asp)
|
|
|
NM_005477.3(HCN4):c.238C>T (p.Pro80Ser)
|
|
|
NM_005477.3(HCN4):c.2394C>G (p.His798Gln)
|
rs2151214754
|
|
NM_005477.3(HCN4):c.2394C>T (p.His798=)
|
|
|
NM_005477.3(HCN4):c.2398C>A (p.Arg800Ser)
|
rs181894662
|
|
NM_005477.3(HCN4):c.2399G>T (p.Arg800Leu)
|
rs375180021
|
|
NM_005477.3(HCN4):c.23T>C (p.Met8Thr)
|
rs749801134
|
|
NM_005477.3(HCN4):c.23T>G (p.Met8Arg)
|
rs749801134
|
|
NM_005477.3(HCN4):c.2409T>G (p.Ala803=)
|
rs1037000142
|
|
NM_005477.3(HCN4):c.2410G>A (p.Ala804Thr)
|
|
|
NM_005477.3(HCN4):c.2419C>A (p.Arg807Ser)
|
|
|
NM_005477.3(HCN4):c.2425C>T (p.Pro809Ser)
|
|
|
NM_005477.3(HCN4):c.2426C>A (p.Pro809His)
|
|
|
NM_005477.3(HCN4):c.242C>T (p.Ala81Val)
|
|
|
NM_005477.3(HCN4):c.2430A>G (p.Pro810=)
|
rs940079250
|
|
NM_005477.3(HCN4):c.2432G>A (p.Gly811Glu)
|
|
|
NM_005477.3(HCN4):c.2432G>C (p.Gly811Ala)
|
rs776656247
|
|
NM_005477.3(HCN4):c.2432G>T (p.Gly811Val)
|
rs776656247
|
|
NM_005477.3(HCN4):c.2436T>A (p.Ser812=)
|
|
|
NM_005477.3(HCN4):c.243C>A (p.Ala81=)
|
|
|
NM_005477.3(HCN4):c.2443G>A (p.Gly815Ser)
|
|
|
NM_005477.3(HCN4):c.2453G>A (p.Gly818Asp)
|
|
|
NM_005477.3(HCN4):c.2459G>C (p.Gly820Ala)
|
|
|
NM_005477.3(HCN4):c.245G>C (p.Arg82Pro)
|
|
|
NM_005477.3(HCN4):c.2462A>G (p.Gln821Arg)
|
|
|
NM_005477.3(HCN4):c.2471G>A (p.Arg824Lys)
|
rs2151214699
|
|
NM_005477.3(HCN4):c.2472G>A (p.Arg824=)
|
|
|
NM_005477.3(HCN4):c.247G>C (p.Gly83Arg)
|
rs2043137577
|
|
NM_005477.3(HCN4):c.247G>T (p.Gly83Cys)
|
|
|
NM_005477.3(HCN4):c.2482C>T (p.Arg828Trp)
|
rs1281853703
|
|
NM_005477.3(HCN4):c.2483G>A (p.Arg828Gln)
|
|
|
NM_005477.3(HCN4):c.2483G>T (p.Arg828Leu)
|
|
|
NM_005477.3(HCN4):c.2487G>A (p.Leu829=)
|
|
|
NM_005477.3(HCN4):c.2492C>T (p.Ser831Phe)
|
|
|
NM_005477.3(HCN4):c.2493C>T (p.Ser831=)
|
rs1372157927
|
|
NM_005477.3(HCN4):c.2498T>C (p.Ile833Thr)
|
|
|
NM_005477.3(HCN4):c.249C>A (p.Gly83=)
|
|
|
NM_005477.3(HCN4):c.2500C>A (p.Pro834Thr)
|
|
|
NM_005477.3(HCN4):c.2501C>T (p.Pro834Leu)
|
|
|
NM_005477.3(HCN4):c.2502T>C (p.Pro834=)
|
rs1473914438
|
|
NM_005477.3(HCN4):c.2504C>T (p.Ser835Phe)
|
|
|
NM_005477.3(HCN4):c.2507C>G (p.Ala836Gly)
|
|
|
NM_005477.3(HCN4):c.2509C>T (p.Leu837=)
|
|
|
NM_005477.3(HCN4):c.2512G>C (p.Gly838Arg)
|
|
|
NM_005477.3(HCN4):c.2515_2518dup (p.Ala840fs)
|
|
|
NM_005477.3(HCN4):c.2519_2662dup (p.Cys887_Gly888insAlaSerProAlaSerSerProSerGlnValAspThrProSerSerSerSerPheHisIleGlnGlnLeuAlaGlyPheSerAlaProAlaGlyLeuSerProLeuLeuProSerSerSerSerSerProProProGlyAlaCys)
|
|
|
NM_005477.3(HCN4):c.251C>T (p.Ala84Val)
|
rs2151228645
|
|
NM_005477.3(HCN4):c.2523G>T (p.Ser841=)
|
rs768157473
|
|
NM_005477.3(HCN4):c.2524C>T (p.Pro842Ser)
|
rs2151214653
|
|
NM_005477.3(HCN4):c.252G>A (p.Ala84=)
|
rs2043137516
|
|
NM_005477.3(HCN4):c.2530A>G (p.Ser844Gly)
|
|
|
NM_005477.3(HCN4):c.2534G>C (p.Ser845Thr)
|
rs2042878358
|
|
NM_005477.3(HCN4):c.2536C>G (p.Pro846Ala)
|
|
|
NM_005477.3(HCN4):c.2538G>A (p.Pro846=)
|
rs372747050
|
|
NM_005477.3(HCN4):c.2538G>T (p.Pro846=)
|
|
|
NM_005477.3(HCN4):c.2541C>G (p.Ser847=)
|
rs772267234
|
|
NM_005477.3(HCN4):c.254G>T (p.Gly85Val)
|
rs1397898750
|
|
NM_005477.3(HCN4):c.2551A>C (p.Thr851Pro)
|
|
|
NM_005477.3(HCN4):c.2553A>G (p.Thr851=)
|
rs748390169
|
|
NM_005477.3(HCN4):c.2556G>T (p.Pro852=)
|
rs117819825
|
|
NM_005477.3(HCN4):c.255C>G (p.Gly85=)
|
|
|
NM_005477.3(HCN4):c.2560T>C (p.Ser854Pro)
|
|
|
NM_005477.3(HCN4):c.2561del (p.Ser854fs)
|
|
|
NM_005477.3(HCN4):c.2567C>T (p.Ser856Phe)
|
|
|
NM_005477.3(HCN4):c.256A>T (p.Lys86Ter)
|
|
|
NM_005477.3(HCN4):c.2571C>G (p.Phe857Leu)
|
rs756140673
|
|
NM_005477.3(HCN4):c.2572C>T (p.His858Tyr)
|
|
|
NM_005477.3(HCN4):c.257A>G (p.Lys86Arg)
|
|
|
NM_005477.3(HCN4):c.2587G>T (p.Ala863Ser)
|
rs767354516
|
|
NM_005477.3(HCN4):c.2593_2610del (p.Phe865_Gly870del)
|
|
|
NM_005477.3(HCN4):c.2595C>T (p.Phe865=)
|
rs904535432
|
|
NM_005477.3(HCN4):c.2599G>T (p.Ala867Ser)
|
|
|
NM_005477.3(HCN4):c.2600C>A (p.Ala867Asp)
|
|
|
NM_005477.3(HCN4):c.2603C>T (p.Pro868Leu)
|
|
|
NM_005477.3(HCN4):c.2604C>A (p.Pro868=)
|
|
|
NM_005477.3(HCN4):c.2605G>C (p.Ala869Pro)
|
rs775134377
|
|
NM_005477.3(HCN4):c.260C>G (p.Ser87Cys)
|
rs866449137
|
|
NM_005477.3(HCN4):c.2611C>A (p.Leu871Met)
|
|
|
NM_005477.3(HCN4):c.2615G>A (p.Ser872Asn)
|
rs2042877637
|
|
NM_005477.3(HCN4):c.2616C>G (p.Ser872Arg)
|
rs773525527
|
|
NM_005477.3(HCN4):c.2619A>G (p.Pro873=)
|
|
|
NM_005477.3(HCN4):c.2619A>T (p.Pro873=)
|
rs772599794
|
|
NM_005477.3(HCN4):c.261C>T (p.Ser87=)
|
|
|
NM_005477.3(HCN4):c.2622C>A (p.Leu874=)
|
|
|
NM_005477.3(HCN4):c.2623C>T (p.Leu875=)
|
rs1160062560
|
|
NM_005477.3(HCN4):c.2626C>T (p.Pro876Ser)
|
|
|
NM_005477.3(HCN4):c.2628C>T (p.Pro876=)
|
rs2151214570
|
|
NM_005477.3(HCN4):c.2631A>G (p.Ser877=)
|
|
|
NM_005477.3(HCN4):c.2638T>A (p.Ser880Thr)
|
|
|
NM_005477.3(HCN4):c.263G>A (p.Ser88Asn)
|
rs1060500108
|
|
NM_005477.3(HCN4):c.2642C>T (p.Ser881Phe)
|
rs2151214556
|
|
NM_005477.3(HCN4):c.2647C>A (p.Pro883Thr)
|
|
|
NM_005477.3(HCN4):c.2647C>T (p.Pro883Ser)
|
rs780235330
|
|
NM_005477.3(HCN4):c.2650C>A (p.Pro884Thr)
|
rs745819208
|
|
NM_005477.3(HCN4):c.2650C>G (p.Pro884Ala)
|
rs745819208
|
|
NM_005477.3(HCN4):c.2651C>T (p.Pro884Leu)
|
|
|
NM_005477.3(HCN4):c.2652dup (p.Gly885fs)
|
rs2151214541
|
|
NM_005477.3(HCN4):c.2653G>C (p.Gly885Arg)
|
|
|
NM_005477.3(HCN4):c.2662G>A (p.Gly888Ser)
|
|
|
NM_005477.3(HCN4):c.2666C>T (p.Ser889Phe)
|
rs752235823
|
|
NM_005477.3(HCN4):c.2667C>T (p.Ser889=)
|
rs2151214520
|
|
NM_005477.3(HCN4):c.2668C>G (p.Pro890Ala)
|
rs184801511
|
|
NM_005477.3(HCN4):c.266C>T (p.Thr89Met)
|
|
|
NM_005477.3(HCN4):c.2670C>T (p.Pro890=)
|
rs1447571299
|
|
NM_005477.3(HCN4):c.2675C>T (p.Ala892Val)
|
rs2042876797
|
|
NM_005477.3(HCN4):c.2677C>G (p.Pro893Ala)
|
|
|
NM_005477.3(HCN4):c.267G>A (p.Thr89=)
|
|
|
NM_005477.3(HCN4):c.2682A>G (p.Thr894=)
|
|
|
NM_005477.3(HCN4):c.2691T>G (p.Ala897=)
|
|
|
NM_005477.3(HCN4):c.2694C>A (p.Gly898=)
|
rs375169111
|
|
NM_005477.3(HCN4):c.2695G>T (p.Val899Leu)
|
|
|
NM_005477.3(HCN4):c.2696T>G (p.Val899Gly)
|
|
|
NM_005477.3(HCN4):c.2700C>A (p.Ala900=)
|
rs377656260
|
|
NM_005477.3(HCN4):c.2700C>T (p.Ala900=)
|
rs377656260
|
|
NM_005477.3(HCN4):c.2703C>A (p.Ala901=)
|
|
|
NM_005477.3(HCN4):c.2703C>T (p.Ala901=)
|
rs769947655
|
|
NM_005477.3(HCN4):c.2706C>T (p.Thr902=)
|
|
|
NM_005477.3(HCN4):c.270C>A (p.Asn90Lys)
|
|
|
NM_005477.3(HCN4):c.270C>T (p.Asn90=)
|
rs2043137309
|
|
NM_005477.3(HCN4):c.2713_2734dup (p.Lys912fs)
|
rs1595819839
|
|
NM_005477.3(HCN4):c.2714C>T (p.Ala905Val)
|
|
|
NM_005477.3(HCN4):c.2716G>C (p.Gly906Arg)
|
|
|
NM_005477.3(HCN4):c.2717G>C (p.Gly906Ala)
|
|
|
NM_005477.3(HCN4):c.271G>A (p.Gly91Ser)
|
|
|
NM_005477.3(HCN4):c.271G>C (p.Gly91Arg)
|
rs746252218
|
|
NM_005477.3(HCN4):c.272G>T (p.Gly91Val)
|
|
|
NM_005477.3(HCN4):c.2730C>T (p.Phe910=)
|
|
|
NM_005477.3(HCN4):c.2731C>T (p.His911Tyr)
|
|
|
NM_005477.3(HCN4):c.2739G>T (p.Ala913=)
|
rs373411041
|
|
NM_005477.3(HCN4):c.273C>T (p.Gly91=)
|
|
|
NM_005477.3(HCN4):c.2743G>A (p.Gly915Ser)
|
|
|
NM_005477.3(HCN4):c.2744del (p.Gly915fs)
|
|
|
NM_005477.3(HCN4):c.2745T>A (p.Gly915=)
|
rs1297073936
|
|
NM_005477.3(HCN4):c.2746G>T (p.Gly916Cys)
|
|
|
NM_005477.3(HCN4):c.274G>A (p.Asp92Asn)
|
rs2151228629
|
|
NM_005477.3(HCN4):c.2755TCC[2] (p.Ser921del)
|
rs1313245625
|
|
NM_005477.3(HCN4):c.2760C>T (p.Ser920=)
|
|
|
NM_005477.3(HCN4):c.2765A>C (p.Asp922Ala)
|
rs2151214442
|
|
NM_005477.3(HCN4):c.2767T>A (p.Ser923Thr)
|
|
|
NM_005477.3(HCN4):c.2773C>G (p.Leu925Val)
|
|
|
NM_005477.3(HCN4):c.2774T>C (p.Leu925Pro)
|
|
|
NM_005477.3(HCN4):c.2774T>G (p.Leu925Arg)
|
rs375712962
|
|
NM_005477.3(HCN4):c.2775_2777del (p.Leu926del)
|
rs766277314
|
|
NM_005477.3(HCN4):c.2781C>G (p.Thr927=)
|
rs2151214430
|
|
NM_005477.3(HCN4):c.2784G>C (p.Pro928=)
|
|
|
NM_005477.3(HCN4):c.2788C>T (p.Gln930Ter)
|
rs2042875494
|
|
NM_005477.3(HCN4):c.2789A>G (p.Gln930Arg)
|
|
|
NM_005477.3(HCN4):c.2795G>A (p.Gly932Asp)
|
|
|
NM_005477.3(HCN4):c.2796C>G (p.Gly932=)
|
rs765986414
|
|
NM_005477.3(HCN4):c.279C>T (p.Cys93=)
|
|
|
NM_005477.3(HCN4):c.27C>G (p.Arg9=)
|
rs1188784278
|
|
NM_005477.3(HCN4):c.2802C>A (p.Arg934=)
|
|
|
NM_005477.3(HCN4):c.2804C>A (p.Ser935Tyr)
|
rs775803239
|
|
NM_005477.3(HCN4):c.2804C>G (p.Ser935Cys)
|
|
|
NM_005477.3(HCN4):c.2804C>T (p.Ser935Phe)
|
rs775803239
|
|
NM_005477.3(HCN4):c.2804_2805delinsTA (p.Ser935Leu)
|
rs2151214401
|
|
NM_005477.3(HCN4):c.2809C>T (p.Gln937Ter)
|
rs776757023
|
|
NM_005477.3(HCN4):c.2827C>T (p.Pro943Ser)
|
|
|
NM_005477.3(HCN4):c.2830G>T (p.Ala944Ser)
|
|
|
NM_005477.3(HCN4):c.2839G>T (p.Gly947Trp)
|
|
|
NM_005477.3(HCN4):c.2840G>C (p.Gly947Ala)
|
|
|
NM_005477.3(HCN4):c.2842G>A (p.Ala948Thr)
|
|
|
NM_005477.3(HCN4):c.2842del (p.Ala948fs)
|
rs1275052772
|
|
NM_005477.3(HCN4):c.2846G>C (p.Arg949Pro)
|
rs752139441
|
|
NM_005477.3(HCN4):c.2846G>T (p.Arg949Leu)
|
|
|
NM_005477.3(HCN4):c.2848G>A (p.Gly950Arg)
|
|
|
NM_005477.3(HCN4):c.2850A>G (p.Gly950=)
|
|
|
NM_005477.3(HCN4):c.2851G>C (p.Gly951Arg)
|
|
|
NM_005477.3(HCN4):c.2854_2869del (p.Leu952fs)
|
|
|
NM_005477.3(HCN4):c.2856G>A (p.Leu952=)
|
rs2151214356
|
|
NM_005477.3(HCN4):c.2858G>A (p.Gly953Glu)
|
rs1555475226
|
|
NM_005477.3(HCN4):c.2858del (p.Gly953fs)
|
|
|
NM_005477.3(HCN4):c.2863C>T (p.Pro955Ser)
|
|
|
NM_005477.3(HCN4):c.2864C>A (p.Pro955Gln)
|
rs371562763
|
|
NM_005477.3(HCN4):c.2864C>G (p.Pro955Arg)
|
rs371562763
|
|
NM_005477.3(HCN4):c.286_297del (p.Phe96_Ser99del)
|
|
|
NM_005477.3(HCN4):c.2871C>T (p.His957=)
|
|
|
NM_005477.3(HCN4):c.2875C>T (p.Leu959=)
|
|
|
NM_005477.3(HCN4):c.2876T>A (p.Leu959Gln)
|
rs2042874508
|
|
NM_005477.3(HCN4):c.2878CCACCC[1] (p.Pro962_Pro963del)
|
rs750207209
|
|
NM_005477.3(HCN4):c.2879C>A (p.Pro960Gln)
|
rs2042874463
|
|
NM_005477.3(HCN4):c.2880A>G (p.Pro960=)
|
|
|
NM_005477.3(HCN4):c.2881C>T (p.Pro961Ser)
|
|
|
NM_005477.3(HCN4):c.2885C>T (p.Pro962Leu)
|
|
|
NM_005477.3(HCN4):c.2885del (p.Pro962fs)
|
|
|
NM_005477.3(HCN4):c.2892A>C (p.Ser964=)
|
|
|
NM_005477.3(HCN4):c.2895C>A (p.Ser965=)
|
|
|
NM_005477.3(HCN4):c.2896A>C (p.Arg966=)
|
|
|
NM_005477.3(HCN4):c.289C>T (p.Arg97Cys)
|
|
|
NM_005477.3(HCN4):c.2907A>G (p.Ser969=)
|
|
|
NM_005477.3(HCN4):c.2908T>C (p.Ser970Pro)
|
|
|
NM_005477.3(HCN4):c.2909C>T (p.Ser970Phe)
|
|
|
NM_005477.3(HCN4):c.2910T>C (p.Ser970=)
|
rs2151214283
|
|
NM_005477.3(HCN4):c.2917G>T (p.Gly973Trp)
|
rs200495478
|
|
NM_005477.3(HCN4):c.2919G>A (p.Gly973=)
|
rs2151214267
|
|
NM_005477.3(HCN4):c.2922G>A (p.Gln974=)
|
rs2151214265
|
|
NM_005477.3(HCN4):c.2925G>A (p.Leu975=)
|
|
|
NM_005477.3(HCN4):c.2927G>T (p.Gly976Val)
|
|
|
NM_005477.3(HCN4):c.2929C>A (p.Gln977Lys)
|
rs1382370606
|
|
NM_005477.3(HCN4):c.2937C>G (p.Pro979=)
|
|
|
NM_005477.3(HCN4):c.2938G>C (p.Gly980Arg)
|
rs780719805
|
|
NM_005477.3(HCN4):c.2940G>A (p.Gly980=)
|
|
|
NM_005477.3(HCN4):c.2940G>C (p.Gly980=)
|
|
|
NM_005477.3(HCN4):c.2941G>T (p.Glu981Ter)
|
rs1395656450
|
|
NM_005477.3(HCN4):c.2944T>C (p.Leu982=)
|
rs2151214251
|
|
NM_005477.3(HCN4):c.2948C>T (p.Ser983Phe)
|
|
|
NM_005477.3(HCN4):c.294G>A (p.Gly98=)
|
|
|
NM_005477.3(HCN4):c.2950C>G (p.Leu984Val)
|
rs2151214244
|
|
NM_005477.3(HCN4):c.2952A>G (p.Leu984=)
|
|
|
NM_005477.3(HCN4):c.2966G>A (p.Gly989Asp)
|
|
|
NM_005477.3(HCN4):c.2967C>G (p.Gly989=)
|
rs1195607139
|
|
NM_005477.3(HCN4):c.2968C>G (p.Pro990Ala)
|
rs2151214239
|
|
NM_005477.3(HCN4):c.2969C>G (p.Pro990Arg)
|
rs755329686
|
|
NM_005477.3(HCN4):c.2969C>T (p.Pro990Leu)
|
|
|
NM_005477.3(HCN4):c.2975G>T (p.Ser992Ile)
|
|
|
NM_005477.3(HCN4):c.2976C>T (p.Ser992=)
|
|
|
NM_005477.3(HCN4):c.2979G>C (p.Thr993=)
|
|
|
NM_005477.3(HCN4):c.2979G>T (p.Thr993=)
|
|
|
NM_005477.3(HCN4):c.297C>G (p.Ser99Arg)
|
|
|
NM_005477.3(HCN4):c.2985G>C (p.Glu995Asp)
|
|
|
NM_005477.3(HCN4):c.2989C>A (p.Pro997Thr)
|
|
|
NM_005477.3(HCN4):c.2991C>T (p.Pro997=)
|
|
|
NM_005477.3(HCN4):c.2996G>A (p.Arg999Gln)
|
|
|
NM_005477.3(HCN4):c.2998C>A (p.Gln1000Lys)
|
rs1417479645
|
|
NM_005477.3(HCN4):c.299T>G (p.Leu100Arg)
|
|
|
NM_005477.3(HCN4):c.3004G>A (p.Glu1002Lys)
|
|
|
NM_005477.3(HCN4):c.3004G>C (p.Glu1002Gln)
|
rs1060500106
|
|
NM_005477.3(HCN4):c.3011del (p.Pro1004fs)
|
rs2151214199
|
|
NM_005477.3(HCN4):c.3014C>G (p.Ser1005Cys)
|
rs780624939
|
|
NM_005477.3(HCN4):c.3017T>C (p.Leu1006Pro)
|
rs1351588410
|
|
NM_005477.3(HCN4):c.3019G>A (p.Val1007Met)
|
rs866060091
|
|
NM_005477.3(HCN4):c.3020T>C (p.Val1007Ala)
|
|
|
NM_005477.3(HCN4):c.3021G>A (p.Val1007=)
|
rs1461880931
|
|
NM_005477.3(HCN4):c.3022G>T (p.Ala1008Ser)
|
|
|
NM_005477.3(HCN4):c.3028G>A (p.Ala1010Thr)
|
|
|
NM_005477.3(HCN4):c.3034G>A (p.Gly1012Arg)
|
|
|
NM_005477.3(HCN4):c.3035G>A (p.Gly1012Glu)
|
|
|
NM_005477.3(HCN4):c.3036G>C (p.Gly1012=)
|
rs993764984
|
|
NM_005477.3(HCN4):c.3038G>T (p.Gly1013Val)
|
|
|
NM_005477.3(HCN4):c.3039G>C (p.Gly1013=)
|
|
|
NM_005477.3(HCN4):c.3041C>G (p.Ala1014Gly)
|
rs1567767635
|
|
NM_005477.3(HCN4):c.3042T>C (p.Ala1014=)
|
|
|
NM_005477.3(HCN4):c.3047C>T (p.Pro1016Leu)
|
|
|
NM_005477.3(HCN4):c.3051A>C (p.Val1017=)
|
|
|
NM_005477.3(HCN4):c.3058A>C (p.Thr1020Pro)
|
rs2151214146
|
|
NM_005477.3(HCN4):c.3061C>T (p.Pro1021Ser)
|
|
|
NM_005477.3(HCN4):c.3065G>A (p.Arg1022Gln)
|
rs1205818947
|
|
NM_005477.3(HCN4):c.3066AGG[1] (p.Gly1024del)
|
|
|
NM_005477.3(HCN4):c.3073C>A (p.Leu1025Ile)
|
|
|
NM_005477.3(HCN4):c.3073C>G (p.Leu1025Val)
|
|
|
NM_005477.3(HCN4):c.3077_3078delinsTT (p.Ser1026Ile)
|
|
|
NM_005477.3(HCN4):c.3079C>T (p.Pro1027Ser)
|
|
|
NM_005477.3(HCN4):c.307C>T (p.Leu103=)
|
|
|
NM_005477.3(HCN4):c.3082C>A (p.Pro1028Thr)
|
|
|
NM_005477.3(HCN4):c.3082C>G (p.Pro1028Ala)
|
|
|
NM_005477.3(HCN4):c.3082C>T (p.Pro1028Ser)
|
|
|
NM_005477.3(HCN4):c.3087C>G (p.Gly1029=)
|
rs1280129625
|
|
NM_005477.3(HCN4):c.3087C>T (p.Gly1029=)
|
rs1280129625
|
|
NM_005477.3(HCN4):c.3093C>T (p.Ser1031=)
|
|
|
NM_005477.3(HCN4):c.3095C>T (p.Pro1032Leu)
|
|
|
NM_005477.3(HCN4):c.3096A>C (p.Pro1032=)
|
|
|
NM_005477.3(HCN4):c.3096A>G (p.Pro1032=)
|
|
|
NM_005477.3(HCN4):c.3098G>A (p.Gly1033Asp)
|
|
|
NM_005477.3(HCN4):c.3100C>A (p.Pro1034Thr)
|
rs1158677290
|
|
NM_005477.3(HCN4):c.3100C>T (p.Pro1034Ser)
|
rs1158677290
|
|
NM_005477.3(HCN4):c.3101C>T (p.Pro1034Leu)
|
|
|
NM_005477.3(HCN4):c.3103C>G (p.Pro1035Ala)
|
|
|
NM_005477.3(HCN4):c.3108A>T (p.Arg1036Ser)
|
|
|
NM_005477.3(HCN4):c.310G>A (p.Gly104Ser)
|
rs757662055
|
|
NM_005477.3(HCN4):c.3110C>A (p.Thr1037Asn)
|
|
|
NM_005477.3(HCN4):c.3111C>A (p.Thr1037=)
|
|
|
NM_005477.3(HCN4):c.3114C>A (p.Phe1038Leu)
|
|
|
NM_005477.3(HCN4):c.3119G>A (p.Ser1040Asn)
|
|
|
NM_005477.3(HCN4):c.3122C>T (p.Ala1041Val)
|
|
|
NM_005477.3(HCN4):c.3125C>G (p.Pro1042Arg)
|
|
|
NM_005477.3(HCN4):c.3125C>T (p.Pro1042Leu)
|
rs2042871424
|
|
NM_005477.3(HCN4):c.3129C>T (p.Pro1043=)
|
|
|
NM_005477.3(HCN4):c.312C>T (p.Gly104=)
|
rs2151228610
|
|
NM_005477.3(HCN4):c.3136T>G (p.Ser1046Ala)
|
|
|
NM_005477.3(HCN4):c.3144C>T (p.Ser1048=)
|
rs2151214076
|
|
NM_005477.3(HCN4):c.3151T>A (p.Ser1051Thr)
|
|
|
NM_005477.3(HCN4):c.3152C>G (p.Ser1051Cys)
|
rs2151214067
|
|
NM_005477.3(HCN4):c.3157C>T (p.Leu1053Phe)
|
|
|
NM_005477.3(HCN4):c.3158T>C (p.Leu1053Pro)
|
rs2042871166
|
|
NM_005477.3(HCN4):c.3163C>T (p.Pro1055Ser)
|
|
|
NM_005477.3(HCN4):c.3165A>G (p.Pro1055=)
|
|
|
NM_005477.3(HCN4):c.316C>T (p.Arg106Trp)
|
rs2151228608
|
|
NM_005477.3(HCN4):c.3170C>T (p.Ala1057Val)
|
|
|
NM_005477.3(HCN4):c.3171A>C (p.Ala1057=)
|
rs1057522384
|
|
NM_005477.3(HCN4):c.3171A>G (p.Ala1057=)
|
|
|
NM_005477.3(HCN4):c.3174C>T (p.Ser1058=)
|
rs2151214056
|
|
NM_005477.3(HCN4):c.3177C>T (p.Ser1059=)
|
|
|
NM_005477.3(HCN4):c.3179C>A (p.Pro1060His)
|
|
|
NM_005477.3(HCN4):c.3179C>G (p.Pro1060Arg)
|
|
|
NM_005477.3(HCN4):c.3179C>T (p.Pro1060Leu)
|
rs764262532
|
|
NM_005477.3(HCN4):c.3182C>A (p.Pro1061Gln)
|
rs1010963303
|
|
NM_005477.3(HCN4):c.3182C>T (p.Pro1061Leu)
|
|
|
NM_005477.3(HCN4):c.3184C>A (p.Pro1062Thr)
|
|
|
NM_005477.3(HCN4):c.3184C>T (p.Pro1062Ser)
|
rs2042870785
|
|
NM_005477.3(HCN4):c.3186A>G (p.Pro1062=)
|
|
|
NM_005477.3(HCN4):c.3187C>T (p.Pro1063Ser)
|
|
|
NM_005477.3(HCN4):c.3189C>T (p.Pro1063=)
|
rs1184476514
|
|
NM_005477.3(HCN4):c.3191A>G (p.Gln1064Arg)
|
|
|
NM_005477.3(HCN4):c.3191_3217del (p.Gln1064_Pro1072del)
|
rs776487863
|
|
NM_005477.3(HCN4):c.3192G>C (p.Gln1064His)
|
rs2042870613
|
|
NM_005477.3(HCN4):c.3193G>A (p.Val1065Ile)
|
rs2042870599
|
|
NM_005477.3(HCN4):c.3194T>C (p.Val1065Ala)
|
|
|
NM_005477.3(HCN4):c.3195C>T (p.Val1065=)
|
rs4493011
|
|
NM_005477.3(HCN4):c.31C>T (p.Arg11Trp)
|
|
|
NM_005477.3(HCN4):c.3202C>A (p.Arg1068Ser)
|
|
|
NM_005477.3(HCN4):c.3203G>C (p.Arg1068Pro)
|
|
|
NM_005477.3(HCN4):c.3205C>G (p.Arg1069Gly)
|
|
|
NM_005477.3(HCN4):c.3206G>T (p.Arg1069Leu)
|
|
|
NM_005477.3(HCN4):c.320G>A (p.Gly107Asp)
|
|
|
NM_005477.3(HCN4):c.320G>C (p.Gly107Ala)
|
rs2043137014
|
|
NM_005477.3(HCN4):c.320del (p.Gly107fs)
|
|
|
NM_005477.3(HCN4):c.3210C>T (p.Gly1070=)
|
rs1213080727
|
|
NM_005477.3(HCN4):c.3211_3220del (p.Thr1071fs)
|
|
|
NM_005477.3(HCN4):c.3212C>T (p.Thr1071Ile)
|
|
|
NM_005477.3(HCN4):c.3214C>T (p.Pro1072Ser)
|
|
|
NM_005477.3(HCN4):c.3218C>G (p.Pro1073Arg)
|
|
|
NM_005477.3(HCN4):c.321C>A (p.Gly107=)
|
|
|
NM_005477.3(HCN4):c.321C>T (p.Gly107=)
|
rs1555479019
|
|
NM_005477.3(HCN4):c.3223_3225del (p.Thr1075del)
|
|
|
NM_005477.3(HCN4):c.3225C>T (p.Thr1075=)
|
|
|
NM_005477.3(HCN4):c.322G>C (p.Gly108Arg)
|
rs1057524788
|
|
NM_005477.3(HCN4):c.3234C>T (p.Arg1078=)
|
|
|
NM_005477.3(HCN4):c.3242A>G (p.Gln1081Arg)
|
rs1419820366
|
|
NM_005477.3(HCN4):c.3243G>A (p.Gln1081=)
|
rs2042869970
|
|
NM_005477.3(HCN4):c.3247C>T (p.Leu1083Phe)
|
rs1474106451
|
|
NM_005477.3(HCN4):c.3247_3258del (p.Leu1083_Ile1086del)
|
|
|
NM_005477.3(HCN4):c.3256A>T (p.Ile1086Phe)
|
|
|
NM_005477.3(HCN4):c.3256_3258dup (p.Ile1086_Ser1087insIle)
|
|
|
NM_005477.3(HCN4):c.3260C>T (p.Ser1087Phe)
|
|
|
NM_005477.3(HCN4):c.3261C>G (p.Ser1087=)
|
|
|
NM_005477.3(HCN4):c.3262G>C (p.Ala1088Pro)
|
rs1050326641
|
|
NM_005477.3(HCN4):c.3262G>T (p.Ala1088Ser)
|
|
|
NM_005477.3(HCN4):c.3267T>C (p.Ser1089=)
|
|
|
NM_005477.3(HCN4):c.3275C>A (p.Ala1092Asp)
|
|
|
NM_005477.3(HCN4):c.3279G>A (p.Leu1093=)
|
|
|
NM_005477.3(HCN4):c.327C>A (p.Gly109=)
|
|
|
NM_005477.3(HCN4):c.327C>T (p.Gly109=)
|
rs777999747
|
|
NM_005477.3(HCN4):c.3282T>C (p.Pro1094=)
|
|
|
NM_005477.3(HCN4):c.3285G>A (p.Gln1095=)
|
|
|
NM_005477.3(HCN4):c.3289G>T (p.Gly1097Trp)
|
|
|
NM_005477.3(HCN4):c.3290G>A (p.Gly1097Glu)
|
|
|
NM_005477.3(HCN4):c.3292G>T (p.Ala1098Ser)
|
|
|
NM_005477.3(HCN4):c.3297G>C (p.Gln1099His)
|
|
|
NM_005477.3(HCN4):c.3299C>T (p.Thr1100Ile)
|
|
|
NM_005477.3(HCN4):c.32G>C (p.Arg11Pro)
|
|
|
NM_005477.3(HCN4):c.3300T>A (p.Thr1100=)
|
rs2151213924
|
|
NM_005477.3(HCN4):c.3300T>C (p.Thr1100=)
|
rs2151213924
|
|
NM_005477.3(HCN4):c.3307A>G (p.Arg1103Gly)
|
rs878854774
|
|
NM_005477.3(HCN4):c.3310G>A (p.Ala1104Thr)
|
|
|
NM_005477.3(HCN4):c.3315C>A (p.Ser1105=)
|
|
|
NM_005477.3(HCN4):c.3315C>T (p.Ser1105=)
|
rs2042869247
|
|
NM_005477.3(HCN4):c.3317del (p.Pro1106fs)
|
rs2151213907
|
|
NM_005477.3(HCN4):c.3317dup (p.His1107fs)
|
|
|
NM_005477.3(HCN4):c.3318G>A (p.Pro1106=)
|
|
|
NM_005477.3(HCN4):c.3322T>G (p.Ser1108Ala)
|
|
|
NM_005477.3(HCN4):c.3323C>A (p.Ser1108Tyr)
|
|
|
NM_005477.3(HCN4):c.3327A>G (p.Ser1109=)
|
rs1057521832
|
|
NM_005477.3(HCN4):c.3328G>A (p.Gly1110Arg)
|
rs2151213893
|
|
NM_005477.3(HCN4):c.3338T>C (p.Met1113Thr)
|
|
|
NM_005477.3(HCN4):c.333C>T (p.Gly111=)
|
|
|
NM_005477.3(HCN4):c.3340G>C (p.Ala1114Pro)
|
rs2151213889
|
|
NM_005477.3(HCN4):c.3349C>G (p.Pro1117Ala)
|
|
|
NM_005477.3(HCN4):c.334_348dup (p.Gly116_Ser117insGlyThrGlySerGly)
|
|
|
NM_005477.3(HCN4):c.3353T>A (p.Leu1118His)
|
|
|
NM_005477.3(HCN4):c.335G>C (p.Gly112Ala)
|
rs1595837506
|
|
NM_005477.3(HCN4):c.3369G>A (p.Gly1123=)
|
|
|
NM_005477.3(HCN4):c.336C>T (p.Gly112=)
|
|
|
NM_005477.3(HCN4):c.3370G>A (p.Gly1124Ser)
|
|
|
NM_005477.3(HCN4):c.3372T>A (p.Gly1124=)
|
|
|
NM_005477.3(HCN4):c.3375C>G (p.Gly1125=)
|
rs2151213863
|
|
NM_005477.3(HCN4):c.3378C>T (p.Ser1126=)
|
rs758673317
|
|
NM_005477.3(HCN4):c.3380G>A (p.Gly1127Glu)
|
rs2151213857
|
|
NM_005477.3(HCN4):c.3381G>A (p.Gly1127=)
|
|
|
NM_005477.3(HCN4):c.3383G>A (p.Gly1128Asp)
|
|
|
NM_005477.3(HCN4):c.3385_3402del (p.Ser1129_Gly1134del)
|
rs772582176
|
|
NM_005477.3(HCN4):c.3386G>A (p.Ser1129Asn)
|
rs2042868269
|
|
NM_005477.3(HCN4):c.338_352dup (p.Ser117_Ser118insThrGlySerGlySer)
|
|
|
NM_005477.3(HCN4):c.3391A>T (p.Ser1131Cys)
|
|
|
NM_005477.3(HCN4):c.3392G>A (p.Ser1131Asn)
|
|
|
NM_005477.3(HCN4):c.3392G>C (p.Ser1131Thr)
|
|
|
NM_005477.3(HCN4):c.3394_3402dup (p.Ser1132_Gly1134dup)
|
rs1290501532
|
|
NM_005477.3(HCN4):c.3397G>A (p.Gly1133Arg)
|
rs532186403
|
|
NM_005477.3(HCN4):c.3399G>T (p.Gly1133=)
|
|
|
NM_005477.3(HCN4):c.339G>A (p.Thr113=)
|
|
|
NM_005477.3(HCN4):c.33G>A (p.Arg11=)
|
|
|
NM_005477.3(HCN4):c.33G>T (p.Arg11=)
|
|
|
NM_005477.3(HCN4):c.3401G>A (p.Gly1134Asp)
|
rs2042868075
|
|
NM_005477.3(HCN4):c.3406G>A (p.Gly1136Ser)
|
rs761421530
|
|
NM_005477.3(HCN4):c.3406G>T (p.Gly1136Cys)
|
|
|
NM_005477.3(HCN4):c.3407G>T (p.Gly1136Val)
|
rs1377027284
|
|
NM_005477.3(HCN4):c.340G>A (p.Gly114Arg)
|
|
|
NM_005477.3(HCN4):c.3411C>A (p.Pro1137=)
|
rs763496884
|
|
NM_005477.3(HCN4):c.3413dup (p.Gly1139fs)
|
|
|
NM_005477.3(HCN4):c.3417G>A (p.Gly1139=)
|
rs2151213812
|
|
NM_005477.3(HCN4):c.3419G>A (p.Arg1140Lys)
|
|
|
NM_005477.3(HCN4):c.341G>A (p.Gly114Glu)
|
|
|
NM_005477.3(HCN4):c.3420G>A (p.Arg1140=)
|
|
|
NM_005477.3(HCN4):c.3423C>G (p.Pro1141=)
|
|
|
NM_005477.3(HCN4):c.3425A>G (p.Tyr1142Cys)
|
|
|
NM_005477.3(HCN4):c.3426T>G (p.Tyr1142Ter)
|
|
|
NM_005477.3(HCN4):c.3428G>T (p.Gly1143Val)
|
rs1555475094
|
|
NM_005477.3(HCN4):c.3435C>A (p.Ile1145=)
|
rs2151213798
|
|
NM_005477.3(HCN4):c.3436C>T (p.Pro1146Ser)
|
|
|
NM_005477.3(HCN4):c.3437C>T (p.Pro1146Leu)
|
|
|
NM_005477.3(HCN4):c.3438C>A (p.Pro1146=)
|
rs549872016
|
|
NM_005477.3(HCN4):c.3438C>T (p.Pro1146=)
|
|
|
NM_005477.3(HCN4):c.3439G>A (p.Gly1147Ser)
|
rs747427482
|
|
NM_005477.3(HCN4):c.3445C>T (p.His1149Tyr)
|
|
|
NM_005477.3(HCN4):c.3446_3447delinsTT (p.His1149Leu)
|
rs2042867595
|
|
NM_005477.3(HCN4):c.344G>A (p.Ser115Asn)
|
|
|
NM_005477.3(HCN4):c.3452C>G (p.Thr1151Ser)
|
|
|
NM_005477.3(HCN4):c.3452C>T (p.Thr1151Ile)
|
rs2042867531
|
|
NM_005477.3(HCN4):c.3454C>G (p.Leu1152Val)
|
|
|
NM_005477.3(HCN4):c.345C>T (p.Ser115=)
|
|
|
NM_005477.3(HCN4):c.3462G>T (p.Arg1154=)
|
|
|
NM_005477.3(HCN4):c.3465G>A (p.Lys1155=)
|
|
|
NM_005477.3(HCN4):c.346G>T (p.Gly116Cys)
|
|
|
NM_005477.3(HCN4):c.3470C>T (p.Ser1157Phe)
|
|
|
NM_005477.3(HCN4):c.3482T>G (p.Leu1161Trp)
|
|
|
NM_005477.3(HCN4):c.3486A>G (p.Pro1162=)
|
|
|
NM_005477.3(HCN4):c.3488C>A (p.Pro1163His)
|
rs756052150
|
|
NM_005477.3(HCN4):c.3488C>T (p.Pro1163Leu)
|
|
|
NM_005477.3(HCN4):c.3489C>A (p.Pro1163=)
|
|
|
NM_005477.3(HCN4):c.348C>T (p.Gly116=)
|
|
|
NM_005477.3(HCN4):c.3490C>T (p.Pro1164Ser)
|
rs750255859
|
|
NM_005477.3(HCN4):c.3493_3494del (p.Leu1165fs)
|
|
|
NM_005477.3(HCN4):c.3494T>C (p.Leu1165Pro)
|
rs1209424601
|
|
NM_005477.3(HCN4):c.3495_3498del (p.Ser1166fs)
|
rs2151213747
|
|
NM_005477.3(HCN4):c.3497C>G (p.Ser1166Cys)
|
|
|
NM_005477.3(HCN4):c.3497_3500del (p.Ser1166fs)
|
rs774674047
|
|
NM_005477.3(HCN4):c.3499_3504del (p.Leu1167_Phe1168del)
|
|
|
NM_005477.3(HCN4):c.34C>T (p.Leu12Phe)
|
|
|
NM_005477.3(HCN4):c.3501G>C (p.Leu1167Phe)
|
rs756960444
|
|
NM_005477.3(HCN4):c.3502_3505del (p.Phe1168fs)
|
rs786205259
|
|
NM_005477.3(HCN4):c.3503T>G (p.Phe1168Cys)
|
|
|
NM_005477.3(HCN4):c.3506G>T (p.Gly1169Val)
|
|
|
NM_005477.3(HCN4):c.3510A>G (p.Ala1170=)
|
|
|
NM_005477.3(HCN4):c.3512G>A (p.Arg1171Lys)
|
|
|
NM_005477.3(HCN4):c.3526G>T (p.Gly1176Trp)
|
|
|
NM_005477.3(HCN4):c.3527_3540del (p.Gly1176fs)
|
|
|
NM_005477.3(HCN4):c.3529G>A (p.Gly1177Arg)
|
rs2151213719
|
|
NM_005477.3(HCN4):c.3530G>T (p.Gly1177Val)
|
|
|
NM_005477.3(HCN4):c.3531G>A (p.Gly1177=)
|
rs375911378
|
|
NM_005477.3(HCN4):c.3531G>C (p.Gly1177=)
|
rs375911378
|
|
NM_005477.3(HCN4):c.3531del (p.Pro1179fs)
|
rs749503920
|
|
NM_005477.3(HCN4):c.3532C>T (p.Pro1178Ser)
|
rs1354805701
|
|
NM_005477.3(HCN4):c.3533C>T (p.Pro1178Leu)
|
rs2042866287
|
|
NM_005477.3(HCN4):c.3536C>T (p.Pro1179Leu)
|
|
|
NM_005477.3(HCN4):c.3541_3544del (p.Thr1181fs)
|
|
|
NM_005477.3(HCN4):c.3547G>A (p.Gly1183Arg)
|
|
|
NM_005477.3(HCN4):c.3550C>G (p.Pro1184Ala)
|
|
|
NM_005477.3(HCN4):c.3551C>G (p.Pro1184Arg)
|
|
|
NM_005477.3(HCN4):c.3555G>A (p.Gln1185=)
|
|
|
NM_005477.3(HCN4):c.3557G>A (p.Arg1186Lys)
|
|
|
NM_005477.3(HCN4):c.3564T>C (p.Pro1188=)
|
|
|
NM_005477.3(HCN4):c.3568G>A (p.Ala1190Thr)
|
rs372243234
|
|
NM_005477.3(HCN4):c.3568G>T (p.Ala1190Ser)
|
|
|
NM_005477.3(HCN4):c.3570C>T (p.Ala1190=)
|
rs2151213694
|
|
NM_005477.3(HCN4):c.3573G>T (p.Arg1191Ser)
|
|
|
NM_005477.3(HCN4):c.3575C>G (p.Pro1192Arg)
|
|
|
NM_005477.3(HCN4):c.3575C>T (p.Pro1192Leu)
|
rs774400171
|
|
NM_005477.3(HCN4):c.3578A>G (p.Glu1193Gly)
|
|
|
NM_005477.3(HCN4):c.357C>T (p.His119=)
|
rs2043136636
|
|
NM_005477.3(HCN4):c.3583G>T (p.Val1195Leu)
|
|
|
NM_005477.3(HCN4):c.3586C>A (p.Arg1196Ser)
|
rs780977563
|
|
NM_005477.3(HCN4):c.3586C>G (p.Arg1196Gly)
|
|
|
NM_005477.3(HCN4):c.358G>A (p.Gly120Arg)
|
rs766202352
|
|
NM_005477.3(HCN4):c.3590C>T (p.Ser1197Phe)
|
|
|
NM_005477.3(HCN4):c.3597G>A (p.Leu1199=)
|
rs2151213669
|
|
NM_005477.3(HCN4):c.3599_3600inv (p.Pro1200Leu)
|
|
|
NM_005477.3(HCN4):c.3600A>T (p.Pro1200=)
|
rs529004
|
|
NM_005477.3(HCN4):c.3602C>T (p.Ser1201Phe)
|
|
|
NM_005477.3(HCN4):c.3608T>C (p.Leu1203Pro)
|
|
|
NM_005477.3(HCN4):c.362A>C (p.His121Pro)
|
rs1370522527
|
|
NM_005477.3(HCN4):c.363C>A (p.His121Gln)
|
|
|
NM_005477.3(HCN4):c.368A>G (p.His123Arg)
|
rs1555479000
|
|
NM_005477.3(HCN4):c.371A>G (p.Asp124Gly)
|
rs2043136534
|
|
NM_005477.3(HCN4):c.374C>T (p.Ser125Phe)
|
|
|
NM_005477.3(HCN4):c.379G>A (p.Glu127Lys)
|
rs1056770175
|
|
NM_005477.3(HCN4):c.380A>T (p.Glu127Val)
|
|
|
NM_005477.3(HCN4):c.381G>A (p.Glu127=)
|
|
|
NM_005477.3(HCN4):c.385C>T (p.Arg129Trp)
|
|
|
NM_005477.3(HCN4):c.392T>C (p.Leu131Pro)
|
|
|
NM_005477.3(HCN4):c.396C>A (p.Ile132=)
|
rs2151228563
|
|
NM_005477.3(HCN4):c.396C>T (p.Ile132=)
|
|
|
NM_005477.3(HCN4):c.397G>A (p.Ala133Thr)
|
|
|
NM_005477.3(HCN4):c.398C>T (p.Ala133Val)
|
|
|
NM_005477.3(HCN4):c.399C>T (p.Ala133=)
|
rs2043136395
|
|
NM_005477.3(HCN4):c.403G>A (p.Gly135Ser)
|
rs2151228560
|
|
NM_005477.3(HCN4):c.405C>T (p.Gly135=)
|
rs1555478994
|
|
NM_005477.3(HCN4):c.406G>A (p.Asp136Asn)
|
rs1294780632
|
|
NM_005477.3(HCN4):c.410C>G (p.Ala137Gly)
|
|
|
NM_005477.3(HCN4):c.410C>T (p.Ala137Val)
|
|
|
NM_005477.3(HCN4):c.411_412delinsTC (p.Ser138Pro)
|
|
|
NM_005477.3(HCN4):c.413C>A (p.Ser138Tyr)
|
rs1567801864
|
|
NM_005477.3(HCN4):c.413C>G (p.Ser138Cys)
|
|
|
NM_005477.3(HCN4):c.414C>G (p.Ser138=)
|
|
|
NM_005477.3(HCN4):c.415C>G (p.Pro139Ala)
|
|
|
NM_005477.3(HCN4):c.415_416delinsAT (p.Pro139Ile)
|
|
|
NM_005477.3(HCN4):c.420C>A (p.Gly140=)
|
|
|
NM_005477.3(HCN4):c.420C>T (p.Gly140=)
|
rs1044205586
|
|
NM_005477.3(HCN4):c.42C>T (p.Ser14=)
|
|
|
NM_005477.3(HCN4):c.432G>T (p.Thr144=)
|
|
|
NM_005477.3(HCN4):c.433C>T (p.Pro145Ser)
|
rs886043525
|
|
NM_005477.3(HCN4):c.435C>G (p.Pro145=)
|
|
|
NM_005477.3(HCN4):c.435C>T (p.Pro145=)
|
|
|
NM_005477.3(HCN4):c.436C>T (p.Pro146Ser)
|
|
|
NM_005477.3(HCN4):c.438A>T (p.Pro146=)
|
|
|
NM_005477.3(HCN4):c.43C>T (p.Leu15Phe)
|
|
|
NM_005477.3(HCN4):c.440G>A (p.Gly147Asp)
|
rs2151228539
|
|
NM_005477.3(HCN4):c.445G>A (p.Ala149Thr)
|
rs531489450
|
|
NM_005477.3(HCN4):c.446C>A (p.Ala149Glu)
|
|
|
NM_005477.3(HCN4):c.446C>T (p.Ala149Val)
|
|
|
NM_005477.3(HCN4):c.448G>A (p.Ala150Thr)
|
|
|
NM_005477.3(HCN4):c.450C>G (p.Ala150=)
|
|
|
NM_005477.3(HCN4):c.451_489del (p.Glu151_Ala163del)
|
|
|
NM_005477.3(HCN4):c.452A>G (p.Glu151Gly)
|
|
|
NM_005477.3(HCN4):c.454C>G (p.Pro152Ala)
|
rs1392411769
|
|
NM_005477.3(HCN4):c.454C>T (p.Pro152Ser)
|
rs1392411769
|
|
NM_005477.3(HCN4):c.456C>G (p.Pro152=)
|
|
|
NM_005477.3(HCN4):c.456C>T (p.Pro152=)
|
|
|
NM_005477.3(HCN4):c.465C>A (p.Pro155=)
|
|
|
NM_005477.3(HCN4):c.465C>T (p.Pro155=)
|
rs956956393
|
|
NM_005477.3(HCN4):c.471C>G (p.Ala157=)
|
|
|
NM_005477.3(HCN4):c.471C>T (p.Ala157=)
|
rs2151228522
|
|
NM_005477.3(HCN4):c.474G>A (p.Ser158=)
|
|
|
NM_005477.3(HCN4):c.474G>C (p.Ser158=)
|
|
|
NM_005477.3(HCN4):c.475_492dup (p.Ala159_Ser164dup)
|
rs2151228506
|
|
NM_005477.3(HCN4):c.479A>G (p.Gln160Arg)
|
|
|
NM_005477.3(HCN4):c.47C>T (p.Pro16Leu)
|
rs2043139529
|
|
NM_005477.3(HCN4):c.480G>A (p.Gln160=)
|
|
|
NM_005477.3(HCN4):c.480G>T (p.Gln160His)
|
|
|
NM_005477.3(HCN4):c.481C>T (p.Pro161Ser)
|
|
|
NM_005477.3(HCN4):c.483C>G (p.Pro161=)
|
|
|
NM_005477.3(HCN4):c.483_500dup (p.Ala162_Pro167dup)
|
rs957058060
|
|
NM_005477.3(HCN4):c.487G>A (p.Ala163Thr)
|
|
|
NM_005477.3(HCN4):c.489C>T (p.Ala163=)
|
|
|
NM_005477.3(HCN4):c.48G>A (p.Pro16=)
|
|
|
NM_005477.3(HCN4):c.48G>T (p.Pro16=)
|
|
|
NM_005477.3(HCN4):c.490_497dup (p.Pro167fs)
|
rs2151228503
|
|
NM_005477.3(HCN4):c.491C>G (p.Ser164Trp)
|
|
|
NM_005477.3(HCN4):c.491C>T (p.Ser164Leu)
|
rs1214785817
|
|
NM_005477.3(HCN4):c.492G>A (p.Ser164=)
|
|
|
NM_005477.3(HCN4):c.494C>A (p.Pro165Gln)
|
|
|
NM_005477.3(HCN4):c.495G>A (p.Pro165=)
|
rs2151228505
|
|
NM_005477.3(HCN4):c.497C>A (p.Pro166Gln)
|
rs771442346
|
|
NM_005477.3(HCN4):c.498G>T (p.Pro166=)
|
|
|
NM_005477.3(HCN4):c.498_499delinsTA (p.Pro167Thr)
|
|
|
NM_005477.3(HCN4):c.499C>G (p.Pro167Ala)
|
|
|
NM_005477.3(HCN4):c.512C>A (p.Pro171Gln)
|
|
|
NM_005477.3(HCN4):c.513A>G (p.Pro171=)
|
|
|
NM_005477.3(HCN4):c.513A>T (p.Pro171=)
|
rs2151228493
|
|
NM_005477.3(HCN4):c.514C>T (p.Pro172Ser)
|
|
|
NM_005477.3(HCN4):c.520C>G (p.Pro174Ala)
|
rs542532555
|
|
NM_005477.3(HCN4):c.522G>A (p.Pro174=)
|
rs1302048506
|
|
NM_005477.3(HCN4):c.522G>C (p.Pro174=)
|
|
|
NM_005477.3(HCN4):c.524C>T (p.Ala175Val)
|
rs1464305426
|
|
NM_005477.3(HCN4):c.526T>A (p.Ser176Thr)
|
rs2043135514
|
|
NM_005477.3(HCN4):c.526T>G (p.Ser176Ala)
|
|
|
NM_005477.3(HCN4):c.52C>G (p.Gln18Glu)
|
|
|
NM_005477.3(HCN4):c.531C>T (p.Ala177=)
|
rs2151228480
|
|
NM_005477.3(HCN4):c.533C>T (p.Ser178Phe)
|
|
|
NM_005477.3(HCN4):c.53A>C (p.Gln18Pro)
|
|
|
NM_005477.3(HCN4):c.541C>G (p.Gln181Glu)
|
rs2151228471
|
|
NM_005477.3(HCN4):c.542A>T (p.Gln181Leu)
|
|
|
NM_005477.3(HCN4):c.546C>T (p.Pro182=)
|
rs571671463
|
|
NM_005477.3(HCN4):c.548C>T (p.Ser183Leu)
|
|
|
NM_005477.3(HCN4):c.553G>A (p.Asp185Asn)
|
|
|
NM_005477.3(HCN4):c.555C>T (p.Asp185=)
|
rs998732998
|
|
NM_005477.3(HCN4):c.556A>C (p.Thr186Pro)
|
|
|
NM_005477.3(HCN4):c.558C>G (p.Thr186=)
|
rs2151228455
|
|
NM_005477.3(HCN4):c.558C>T (p.Thr186=)
|
|
|
NM_005477.3(HCN4):c.559G>T (p.Ala187Ser)
|
|
|
NM_005477.3(HCN4):c.55G>C (p.Val19Leu)
|
|
|
NM_005477.3(HCN4):c.562A>G (p.Ile188Val)
|
rs762497115
|
|
NM_005477.3(HCN4):c.564C>A (p.Ile188=)
|
|
|
NM_005477.3(HCN4):c.565A>G (p.Lys189Glu)
|
|
|
NM_005477.3(HCN4):c.566A>G (p.Lys189Arg)
|
|
|
NM_005477.3(HCN4):c.569T>C (p.Val190Ala)
|
|
|
NM_005477.3(HCN4):c.569T>G (p.Val190Gly)
|
|
|
NM_005477.3(HCN4):c.571G>C (p.Glu191Gln)
|
rs2151228445
|
|
NM_005477.3(HCN4):c.572A>G (p.Glu191Gly)
|
|
|
NM_005477.3(HCN4):c.579C>G (p.Gly193=)
|
rs771526379
|
|
NM_005477.3(HCN4):c.579C>T (p.Gly193=)
|
|
|
NM_005477.3(HCN4):c.580_581delinsTT (p.Ala194Leu)
|
|
|
NM_005477.3(HCN4):c.590G>C (p.Gly197Ala)
|
rs2151228428
|
|
NM_005477.3(HCN4):c.592G>T (p.Asp198Tyr)
|
|
|
NM_005477.3(HCN4):c.596A>G (p.Gln199Arg)
|
|
|
NM_005477.3(HCN4):c.600C>T (p.Ile200=)
|
|
|
NM_005477.3(HCN4):c.604C>A (p.Pro202Thr)
|
|
|
NM_005477.3(HCN4):c.605C>A (p.Pro202Gln)
|
|
|
NM_005477.3(HCN4):c.605C>T (p.Pro202Leu)
|
|
|
NM_005477.3(HCN4):c.606G>A (p.Pro202=)
|
|
|
NM_005477.3(HCN4):c.609G>A (p.Glu203=)
|
|
|
NM_005477.3(HCN4):c.60G>A (p.Gly20=)
|
rs756459979
|
|
NM_005477.3(HCN4):c.611C>T (p.Ala204Val)
|
|
|
NM_005477.3(HCN4):c.619C>T (p.Arg207Cys)
|
rs2151228416
|
|
NM_005477.3(HCN4):c.620G>C (p.Arg207Pro)
|
|
|
NM_005477.3(HCN4):c.620G>T (p.Arg207Leu)
|
|
|
NM_005477.3(HCN4):c.621C>T (p.Arg207=)
|
|
|
NM_005477.3(HCN4):c.629A>G (p.Gln210Arg)
|
|
|
NM_005477.3(HCN4):c.62C>T (p.Ala21Val)
|
|
|
NM_005477.3(HCN4):c.630G>A (p.Gln210=)
|
rs2151228409
|
|
NM_005477.3(HCN4):c.633C>A (p.Ala211=)
|
rs545040345
|
|
NM_005477.3(HCN4):c.633C>G (p.Ala211=)
|
rs545040345
|
|
NM_005477.3(HCN4):c.63C>G (p.Ala21=)
|
rs746198895
|
|
NM_005477.3(HCN4):c.63C>T (p.Ala21=)
|
|
|
NM_005477.3(HCN4):c.645G>A (p.Gln215=)
|
|
|
NM_005477.3(HCN4):c.646C>G (p.Arg216Gly)
|
rs912161486
|
|
NM_005477.3(HCN4):c.651G>T (p.Gln217His)
|
rs1323141666
|
|
NM_005477.3(HCN4):c.654C>T (p.Phe218=)
|
rs764818507
|
|
NM_005477.3(HCN4):c.655G>A (p.Gly219Arg)
|
rs1427997752
|
|
NM_005477.3(HCN4):c.666C>G (p.Leu222=)
|
|
|
NM_005477.3(HCN4):c.673G>C (p.Gly225Arg)
|
rs767982466
|
|
NM_005477.3(HCN4):c.674G>A (p.Gly225Glu)
|
rs1456642227
|
|
NM_005477.3(HCN4):c.675G>A (p.Gly225=)
|
rs1370348092
|
|
NM_005477.3(HCN4):c.677T>C (p.Val226Ala)
|
rs2151228384
|
|
NM_005477.3(HCN4):c.681C>G (p.Asn227Lys)
|
|
|
NM_005477.3(HCN4):c.681C>T (p.Asn227=)
|
rs2043134259
|
|
NM_005477.3(HCN4):c.683A>G (p.Lys228Arg)
|
|
|
NM_005477.3(HCN4):c.690C>T (p.Ser230=)
|
|
|
NM_005477.3(HCN4):c.691C>G (p.Leu231Val)
|
|
|
NM_005477.3(HCN4):c.693A>G (p.Leu231=)
|
|
|
NM_005477.3(HCN4):c.693A>T (p.Leu231=)
|
|
|
NM_005477.3(HCN4):c.695G>C (p.Arg232Thr)
|
rs768824090
|
|
NM_005477.3(HCN4):c.699G>A (p.Met233Ile)
|
rs2043134154
|
|
NM_005477.3(HCN4):c.702C>A (p.Phe234Leu)
|
|
|
NM_005477.3(HCN4):c.708C>T (p.Ser236=)
|
|
|
NM_005477.3(HCN4):c.723G>A (p.Glu241=)
|
rs2151228376
|
|
NM_005477.3(HCN4):c.725G>C (p.Arg242Pro)
|
rs1253627105
|
|
NM_005477.3(HCN4):c.725G>T (p.Arg242Leu)
|
|
|
NM_005477.3(HCN4):c.726C>T (p.Arg242=)
|
|
|
NM_005477.3(HCN4):c.744G>A (p.Lys248=)
|
|
|
NM_005477.3(HCN4):c.747G>A (p.Ser249=)
|
|
|
NM_005477.3(HCN4):c.750C>T (p.Ala250=)
|
|
|
NM_005477.3(HCN4):c.753A>G (p.Gly251=)
|
rs746763261
|
|
NM_005477.3(HCN4):c.756T>C (p.Phe252=)
|
|
|
NM_005477.3(HCN4):c.757T>C (p.Trp253Arg)
|
|
|
NM_005477.3(HCN4):c.75C>A (p.Ile25=)
|
|
|
NM_005477.3(HCN4):c.766C>T (p.His256Tyr)
|
|
|
NM_005477.3(HCN4):c.768C>T (p.His256=)
|
|
|
NM_005477.3(HCN4):c.76A>G (p.Met26Val)
|
|
|
NM_005477.3(HCN4):c.775A>G (p.Ser259Gly)
|
rs1567801364
|
|
NM_005477.3(HCN4):c.77T>C (p.Met26Thr)
|
|
|
NM_005477.3(HCN4):c.785+11A>G
|
rs2151228346
|
|
NM_005477.3(HCN4):c.785+13A>G
|
|
|
NM_005477.3(HCN4):c.785+17A>T
|
|
|
NM_005477.3(HCN4):c.785+18T>A
|
rs1412056222
|
|
NM_005477.3(HCN4):c.785+18T>C
|
|
|
NM_005477.3(HCN4):c.785+9C>G
|
|
|
NM_005477.3(HCN4):c.785+9C>T
|
|
|
NM_005477.3(HCN4):c.786-10C>A
|
|
|
NM_005477.3(HCN4):c.786-10C>T
|
|
|
NM_005477.3(HCN4):c.786-14G>A
|
|
|
NM_005477.3(HCN4):c.786-15del
|
|
|
NM_005477.3(HCN4):c.786-16C>T
|
|
|
NM_005477.3(HCN4):c.786-16_786-15del
|
rs1479279626
|
|
NM_005477.3(HCN4):c.786-18C>G
|
|
|
NM_005477.3(HCN4):c.786-3C>A
|
|
|
NM_005477.3(HCN4):c.786-3del
|
|
|
NM_005477.3(HCN4):c.786-7T>C
|
rs2151221269
|
|
NM_005477.3(HCN4):c.79G>C (p.Asp27His)
|
|
|
NM_005477.3(HCN4):c.813G>A (p.Leu271=)
|
|
|
NM_005477.3(HCN4):c.81C>T (p.Asp27=)
|
rs2151228762
|
|
NM_005477.3(HCN4):c.822G>A (p.Val274=)
|
|
|
NM_005477.3(HCN4):c.822G>T (p.Val274=)
|
|
|
NM_005477.3(HCN4):c.829C>G (p.Leu277Val)
|
|
|
NM_005477.3(HCN4):c.82G>A (p.Glu28Lys)
|
rs867068803
|
|
NM_005477.3(HCN4):c.82G>C (p.Glu28Gln)
|
|
|
NM_005477.3(HCN4):c.839T>C (p.Ile280Thr)
|
rs2043018365
|
|
NM_005477.3(HCN4):c.83A>G (p.Glu28Gly)
|
|
|
NM_005477.3(HCN4):c.852C>T (p.Ile284=)
|
rs2151221261
|
|
NM_005477.3(HCN4):c.855C>G (p.Thr285=)
|
|
|
NM_005477.3(HCN4):c.858C>T (p.Phe286=)
|
|
|
NM_005477.3(HCN4):c.85G>A (p.Glu29Lys)
|
|
|
NM_005477.3(HCN4):c.87A>G (p.Glu29=)
|
|
|
NM_005477.3(HCN4):c.881C>G (p.Pro294Arg)
|
rs1216261955
|
|
NM_005477.3(HCN4):c.881C>T (p.Pro294Leu)
|
|
|
NM_005477.3(HCN4):c.882C>G (p.Pro294=)
|
|
|
NM_005477.3(HCN4):c.886A>G (p.Ile296Val)
|
|
|
NM_005477.3(HCN4):c.88G>C (p.Glu30Gln)
|
rs786205802
|
|
NM_005477.3(HCN4):c.896A>G (p.Asn299Ser)
|
rs1057518303
|
|
NM_005477.3(HCN4):c.8A>G (p.Lys3Arg)
|
rs1267513363
|
|
NM_005477.3(HCN4):c.8A>T (p.Lys3Met)
|
|
|
NM_005477.3(HCN4):c.900G>T (p.Val300=)
|
|
|
NM_005477.3(HCN4):c.903G>A (p.Val301=)
|
|
|
NM_005477.3(HCN4):c.918C>T (p.Phe306=)
|
|
|
NM_005477.3(HCN4):c.921C>T (p.Leu307=)
|
rs2151221238
|
|
NM_005477.3(HCN4):c.925G>A (p.Asp309Asn)
|
|
|
NM_005477.3(HCN4):c.927C>T (p.Asp309=)
|
|
|
NM_005477.3(HCN4):c.928T>C (p.Leu310=)
|
|
|
NM_005477.3(HCN4):c.929T>G (p.Leu310Trp)
|
|
|
NM_005477.3(HCN4):c.933C>T (p.Val311=)
|
|
|
NM_005477.3(HCN4):c.944G>A (p.Arg315His)
|
|
|
NM_005477.3(HCN4):c.946A>T (p.Thr316Ser)
|
rs2043017887
|
|
NM_005477.3(HCN4):c.955G>A (p.Val319Met)
|
rs773269320
|
|
NM_005477.3(HCN4):c.957G>A (p.Val319=)
|
|
|
NM_005477.3(HCN4):c.95C>T (p.Ala32Val)
|
|
|
NM_005477.3(HCN4):c.96C>T (p.Ala32=)
|
|
|
NM_005477.3(HCN4):c.978C>G (p.Ile326Met)
|
|
|
NM_005477.3(HCN4):c.984G>A (p.Leu328=)
|
rs1030745095
|
|
NM_005477.3(HCN4):c.987C>A (p.Asp329Glu)
|
rs1472247877
|
|
NM_005477.3(HCN4):c.988C>T (p.Pro330Ser)
|
rs1555477316
|
|
NM_005477.3(HCN4):c.990G>C (p.Pro330=)
|
rs146954200
|
|
NM_005477.3(HCN4):c.990G>T (p.Pro330=)
|
rs146954200
|
|
NM_005477.3(HCN4):c.991C>A (p.Gln331Lys)
|
|
|
NM_005477.3(HCN4):c.993G>A (p.Gln331=)
|
|
|
NM_005477.3(HCN4):c.99G>A (p.Glu33=)
|
|
|
NM_006514.4(SCN10A):c.1004A>G (p.Asn335Ser)
|
rs966272776
|
|
NM_006514.4(SCN10A):c.101C>T (p.Thr34Ile)
|
|
|
NM_006514.4(SCN10A):c.1032G>A (p.Trp344Ter)
|
|
|
NM_006514.4(SCN10A):c.1045C>T (p.Leu349=)
|
|
|
NM_006514.4(SCN10A):c.1052G>A (p.Arg351His)
|
rs767987787
|
|
NM_006514.4(SCN10A):c.1066G>A (p.Asp356Asn)
|
|
|
NM_006514.4(SCN10A):c.1079G>A (p.Arg360His)
|
rs762451403
|
|
NM_006514.4(SCN10A):c.1079G>T (p.Arg360Leu)
|
rs762451403
|
|
NM_006514.4(SCN10A):c.1086C>T (p.Tyr362=)
|
rs2126028575
|
|
NM_006514.4(SCN10A):c.1092+13A>C
|
rs372250251
|
|
NM_006514.4(SCN10A):c.1092+13A>T
|
|
|
NM_006514.4(SCN10A):c.1092+16C>T
|
|
|
NM_006514.4(SCN10A):c.1092+1G>A
|
|
|
NM_006514.4(SCN10A):c.1092+6G>A
|
|
|
NM_006514.4(SCN10A):c.1092+9C>T
|
|
|
NM_006514.4(SCN10A):c.1093-13C>A
|
|
|
NM_006514.4(SCN10A):c.1093-13C>G
|
rs375444748
|
|
NM_006514.4(SCN10A):c.1093-14C>T
|
|
|
NM_006514.4(SCN10A):c.1107T>C (p.Ser369=)
|
|
|
NM_006514.4(SCN10A):c.1110G>A (p.Gly370=)
|
rs267599808
|
|
NM_006514.4(SCN10A):c.1111A>G (p.Lys371Glu)
|
|
|
NM_006514.4(SCN10A):c.1121T>G (p.Met374Arg)
|
|
|
NM_006514.4(SCN10A):c.1138G>C (p.Val380Leu)
|
rs142276689
|
|
NM_006514.4(SCN10A):c.1162C>A (p.Leu388Met)
|
|
|
NM_006514.4(SCN10A):c.1162C>T (p.Leu388=)
|
|
|
NM_006514.4(SCN10A):c.1169A>G (p.Asn390Ser)
|
rs2126028249
|
|
NM_006514.4(SCN10A):c.1170C>T (p.Asn390=)
|
|
|
NM_006514.4(SCN10A):c.1176C>T (p.Ile392=)
|
rs2126028239
|
|
NM_006514.4(SCN10A):c.117G>C (p.Glu39Asp)
|
|
|
NM_006514.4(SCN10A):c.1193T>C (p.Met398Thr)
|
rs978338746
|
|
NM_006514.4(SCN10A):c.1203G>A (p.Glu401=)
|
rs1421961981
|
|
NM_006514.4(SCN10A):c.1209G>A (p.Gln403=)
|
|
|
NM_006514.4(SCN10A):c.120G>T (p.Lys40Asn)
|
rs1553626242
|
|
NM_006514.4(SCN10A):c.1213C>T (p.Gln405Ter)
|
|
|
NM_006514.4(SCN10A):c.123T>C (p.His41=)
|
|
|
NM_006514.4(SCN10A):c.1246AAG[1] (p.Lys417del)
|
rs758898721
|
|
NM_006514.4(SCN10A):c.125G>A (p.Arg42Lys)
|
|
|
NM_006514.4(SCN10A):c.126G>A (p.Arg42=)
|
|
|
NM_006514.4(SCN10A):c.1270A>T (p.Met424Leu)
|
|
|
NM_006514.4(SCN10A):c.1278G>A (p.Arg426=)
|
|
|
NM_006514.4(SCN10A):c.1288G>A (p.Glu430Lys)
|
|
|
NM_006514.4(SCN10A):c.1290+13T>A
|
|
|
NM_006514.4(SCN10A):c.1290+19C>A
|
|
|
NM_006514.4(SCN10A):c.1290+9G>T
|
|
|
NM_006514.4(SCN10A):c.1291-10C>G
|
|
|
NM_006514.4(SCN10A):c.1291-15G>C
|
|
|
NM_006514.4(SCN10A):c.1291-17C>T
|
rs2126027266
|
|
NM_006514.4(SCN10A):c.1291-4G>A
|
rs376077984
|
|
NM_006514.4(SCN10A):c.1291-5C>T
|
rs563934615
|
|
NM_006514.4(SCN10A):c.1345C>T (p.Pro449Ser)
|
rs2126027158
|
|
NM_006514.4(SCN10A):c.1348T>G (p.Leu450Val)
|
|
|
NM_006514.4(SCN10A):c.1351A>T (p.Thr451Ser)
|
|
|
NM_006514.4(SCN10A):c.1353C>G (p.Thr451=)
|
|
|
NM_006514.4(SCN10A):c.1371G>C (p.Glu457Asp)
|
rs1276989301
|
|
NM_006514.4(SCN10A):c.1377G>T (p.Arg459Ser)
|
|
|
NM_006514.4(SCN10A):c.1387A>C (p.Lys463Gln)
|
rs2126027100
|
|
NM_006514.4(SCN10A):c.13A>T (p.Ile5Phe)
|
rs1156489183
|
|
NM_006514.4(SCN10A):c.1405G>A (p.Gly469Ser)
|
|
|
NM_006514.4(SCN10A):c.1419C>T (p.Asp473=)
|
|
|
NM_006514.4(SCN10A):c.1422C>T (p.Asn474=)
|
|
|
NM_006514.4(SCN10A):c.1432del (p.Arg478fs)
|
|
|
NM_006514.4(SCN10A):c.1433G>T (p.Arg478Leu)
|
|
|
NM_006514.4(SCN10A):c.1440T>A (p.Asp480Glu)
|
rs2126026998
|
|
NM_006514.4(SCN10A):c.1442C>G (p.Pro481Arg)
|
|
|
NM_006514.4(SCN10A):c.1444T>C (p.Tyr482His)
|
|
|
NM_006514.4(SCN10A):c.144A>C (p.Glu48Asp)
|
|
|
NM_006514.4(SCN10A):c.1459A>G (p.Met487Val)
|
|
|
NM_006514.4(SCN10A):c.1461+12A>T
|
rs750286697
|
|
NM_006514.4(SCN10A):c.1461+14del
|
|
|
NM_006514.4(SCN10A):c.1462-11G>A
|
rs1307130856
|
|
NM_006514.4(SCN10A):c.1462-2A>G
|
|
|
NM_006514.4(SCN10A):c.1472G>T (p.Gly491Val)
|
|
|
NM_006514.4(SCN10A):c.1473C>T (p.Gly491=)
|
|
|
NM_006514.4(SCN10A):c.1482T>C (p.Ser494=)
|
|
|
NM_006514.4(SCN10A):c.1489C>T (p.Arg497Cys)
|
rs370009920
|
|
NM_006514.4(SCN10A):c.1490G>A (p.Arg497His)
|
|
|
NM_006514.4(SCN10A):c.1492C>G (p.Arg498Gly)
|
rs377467259
|
|
NM_006514.4(SCN10A):c.1493G>C (p.Arg498Pro)
|
rs372716583
|
|
NM_006514.4(SCN10A):c.1499G>C (p.Ser500Thr)
|
|
|
NM_006514.4(SCN10A):c.1509T>C (p.Ser503=)
|
rs1311697487
|
|
NM_006514.4(SCN10A):c.1512G>A (p.Val504=)
|
|
|
NM_006514.4(SCN10A):c.1518T>C (p.His506=)
|
rs1553620505
|
|
NM_006514.4(SCN10A):c.1519T>C (p.Phe507Leu)
|
rs2063759462
|
|
NM_006514.4(SCN10A):c.151C>A (p.Pro51Thr)
|
rs368312678
|
|
NM_006514.4(SCN10A):c.151C>G (p.Pro51Ala)
|
rs368312678
|
|
NM_006514.4(SCN10A):c.1530T>C (p.Pro510=)
|
rs2126023764
|
|
NM_006514.4(SCN10A):c.1531G>A (p.Gly511Ser)
|
|
|
NM_006514.4(SCN10A):c.1534C>G (p.Arg512Gly)
|
rs200714519
|
|
NM_006514.4(SCN10A):c.153T>C (p.Pro51=)
|
|
|
NM_006514.4(SCN10A):c.1540A>T (p.Ile514Phe)
|
|
|
NM_006514.4(SCN10A):c.1547T>C (p.Leu516Pro)
|
rs2126023739
|
|
NM_006514.4(SCN10A):c.154C>T (p.Arg52Trp)
|
|
|
NM_006514.4(SCN10A):c.1560C>T (p.Val520=)
|
|
|
NM_006514.4(SCN10A):c.1566T>A (p.Asp522Glu)
|
|
|
NM_006514.4(SCN10A):c.1575C>T (p.Val525=)
|
rs1220722210
|
|
NM_006514.4(SCN10A):c.1578T>C (p.Phe526=)
|
|
|
NM_006514.4(SCN10A):c.1581T>C (p.Pro527=)
|
|
|
NM_006514.4(SCN10A):c.158C>G (p.Pro53Arg)
|
rs752235456
|
|
NM_006514.4(SCN10A):c.158C>T (p.Pro53Leu)
|
|
|
NM_006514.4(SCN10A):c.1611G>A (p.Leu537=)
|
|
|
NM_006514.4(SCN10A):c.1618G>A (p.Gly540Ser)
|
|
|
NM_006514.4(SCN10A):c.1621G>A (p.Gly541Arg)
|
rs1315864029
|
|
NM_006514.4(SCN10A):c.1625G>A (p.Gly542Asp)
|
|
|
NM_006514.4(SCN10A):c.1631G>A (p.Gly544Asp)
|
|
|
NM_006514.4(SCN10A):c.1637_1645dup (p.Gln546_Pro548dup)
|
rs2126023600
|
|
NM_006514.4(SCN10A):c.1639G>A (p.Gly547Ser)
|
rs2063756062
|
|
NM_006514.4(SCN10A):c.1641C>A (p.Gly547=)
|
rs1444054143
|
|
NM_006514.4(SCN10A):c.1645C>G (p.Leu549Val)
|
rs1576001893
|
|
NM_006514.4(SCN10A):c.1651A>G (p.Arg551Gly)
|
|
|
NM_006514.4(SCN10A):c.1653A>T (p.Arg551Ser)
|
|
|
NM_006514.4(SCN10A):c.1660C>A (p.Leu554Ile)
|
rs2126023579
|
|
NM_006514.4(SCN10A):c.1665T>C (p.Pro555=)
|
|
|
NM_006514.4(SCN10A):c.1666C>T (p.Gln556Ter)
|
|
|
NM_006514.4(SCN10A):c.1676A>G (p.Asn559Ser)
|
|
|
NM_006514.4(SCN10A):c.1676A>T (p.Asn559Ile)
|
|
|
NM_006514.4(SCN10A):c.1680T>C (p.Pro560=)
|
|
|
NM_006514.4(SCN10A):c.1689G>A (p.Arg563=)
|
|
|
NM_006514.4(SCN10A):c.169T>G (p.Leu57Val)
|
|
|
NM_006514.4(SCN10A):c.170T>G (p.Leu57Trp)
|
rs2126061797
|
|
NM_006514.4(SCN10A):c.1712C>T (p.Pro571Leu)
|
|
|
NM_006514.4(SCN10A):c.1716G>T (p.Pro572=)
|
|
|
NM_006514.4(SCN10A):c.1717C>T (p.Pro573Ser)
|
|
|
NM_006514.4(SCN10A):c.1721C>T (p.Thr574Ile)
|
rs1380478295
|
|
NM_006514.4(SCN10A):c.1723A>G (p.Ser575Gly)
|
|
|
NM_006514.4(SCN10A):c.1725T>C (p.Ser575=)
|
|
|
NM_006514.4(SCN10A):c.1729C>A (p.Leu577Ile)
|
|
|
NM_006514.4(SCN10A):c.1733C>A (p.Ala578Asp)
|
|
|
NM_006514.4(SCN10A):c.1733C>T (p.Ala578Val)
|
rs535115766
|
|
NM_006514.4(SCN10A):c.1755+13A>G
|
|
|
NM_006514.4(SCN10A):c.1755+19C>G
|
rs2063754080
|
|
NM_006514.4(SCN10A):c.1755+9G>T
|
|
|
NM_006514.4(SCN10A):c.1755G>C (p.Ser585=)
|
|
|
NM_006514.4(SCN10A):c.1756-14_1756-11del
|
rs777269612
|
|
NM_006514.4(SCN10A):c.1756-15T>C
|
|
|
NM_006514.4(SCN10A):c.1779G>A (p.Lys593=)
|
|
|
NM_006514.4(SCN10A):c.1794A>G (p.Ala598=)
|
rs1575998726
|
|
NM_006514.4(SCN10A):c.1800C>T (p.Tyr600=)
|
rs2126021680
|
|
NM_006514.4(SCN10A):c.1816C>T (p.Arg606Trp)
|
|
|
NM_006514.4(SCN10A):c.1817G>A (p.Arg606Gln)
|
rs367548480
|
|
NM_006514.4(SCN10A):c.1817G>C (p.Arg606Pro)
|
rs367548480
|
|
NM_006514.4(SCN10A):c.1819G>A (p.Ala607Thr)
|
rs139355449
|
|
NM_006514.4(SCN10A):c.1819G>T (p.Ala607Ser)
|
rs139355449
|
|
NM_006514.4(SCN10A):c.1820C>A (p.Ala607Asp)
|
|
|
NM_006514.4(SCN10A):c.1824A>G (p.Gln608=)
|
rs773319945
|
|
NM_006514.4(SCN10A):c.1827G>T (p.Arg609Ser)
|
|
|
NM_006514.4(SCN10A):c.1848C>T (p.Ile616=)
|
|
|
NM_006514.4(SCN10A):c.1850T>C (p.Ile617Thr)
|
rs1333728789
|
|
NM_006514.4(SCN10A):c.1857C>A (p.Ser619=)
|
|
|
NM_006514.4(SCN10A):c.1857C>T (p.Ser619=)
|
rs374060366
|
|
NM_006514.4(SCN10A):c.1867+15C>A
|
|
|
NM_006514.4(SCN10A):c.1867+5G>C
|
|
|
NM_006514.4(SCN10A):c.1873G>A (p.Glu625Lys)
|
rs2126015263
|
|
NM_006514.4(SCN10A):c.1878G>T (p.Glu626Asp)
|
rs139209095
|
|
NM_006514.4(SCN10A):c.1884A>G (p.Glu628=)
|
|
|
NM_006514.4(SCN10A):c.190C>T (p.Pro64Ser)
|
rs2126061757
|
|
NM_006514.4(SCN10A):c.1923G>A (p.Lys641=)
|
|
|
NM_006514.4(SCN10A):c.1927C>T (p.Leu643=)
|
rs572150714
|
|
NM_006514.4(SCN10A):c.1929G>A (p.Leu643=)
|
|
|
NM_006514.4(SCN10A):c.1931T>C (p.Ile644Thr)
|
rs772810661
|
|
NM_006514.4(SCN10A):c.1948A>G (p.Met650Val)
|
rs2126015152
|
|
NM_006514.4(SCN10A):c.1977T>G (p.Phe659Leu)
|
rs1346592471
|
|
NM_006514.4(SCN10A):c.1981C>T (p.Leu661Phe)
|
|
|
NM_006514.4(SCN10A):c.1992T>A (p.Asp664Glu)
|
|
|
NM_006514.4(SCN10A):c.2020T>G (p.Cys674Gly)
|
|
|
NM_006514.4(SCN10A):c.2032A>G (p.Asn678Asp)
|
rs2063642099
|
|
NM_006514.4(SCN10A):c.2046G>A (p.Met682Ile)
|
|
|
NM_006514.4(SCN10A):c.2050A>G (p.Met684Val)
|
rs934256008
|
|
NM_006514.4(SCN10A):c.2052G>A (p.Met684Ile)
|
rs1553619005
|
|
NM_006514.4(SCN10A):c.2062G>A (p.Gly688Ser)
|
rs779931477
|
|
NM_006514.4(SCN10A):c.2066T>C (p.Met689Thr)
|
rs2126014975
|
|
NM_006514.4(SCN10A):c.2070C>T (p.Ser690=)
|
|
|
NM_006514.4(SCN10A):c.2076C>T (p.Thr692=)
|
rs1575987183
|
|
NM_006514.4(SCN10A):c.207G>A (p.Glu69=)
|
|
|
NM_006514.4(SCN10A):c.2090T>A (p.Leu697His)
|
rs2126014930
|
|
NM_006514.4(SCN10A):c.2106+11T>C
|
|
|
NM_006514.4(SCN10A):c.2106+13G>C
|
|
|
NM_006514.4(SCN10A):c.2106+1G>A
|
|
|
NM_006514.4(SCN10A):c.2107-16T>C
|
|
|
NM_006514.4(SCN10A):c.2107-6T>C
|
|
|
NM_006514.4(SCN10A):c.2114C>G (p.Thr705Ser)
|
|
|
NM_006514.4(SCN10A):c.2130T>A (p.Ala710=)
|
rs778052433
|
|
NM_006514.4(SCN10A):c.2130T>C (p.Ala710=)
|
|
|
NM_006514.4(SCN10A):c.2134A>G (p.Met712Val)
|
|
|
NM_006514.4(SCN10A):c.2137G>C (p.Val713Leu)
|
rs1490375691
|
|
NM_006514.4(SCN10A):c.2153C>T (p.Ala718Val)
|
|
|
NM_006514.4(SCN10A):c.2157C>T (p.Phe719=)
|
rs199787775
|
|
NM_006514.4(SCN10A):c.2161C>T (p.Pro721Ser)
|
rs747114420
|
|
NM_006514.4(SCN10A):c.2162C>T (p.Pro721Leu)
|
|
|
NM_006514.4(SCN10A):c.2163A>G (p.Pro721=)
|
|
|
NM_006514.4(SCN10A):c.2186G>A (p.Trp729Ter)
|
rs2126012533
|
|
NM_006514.4(SCN10A):c.21C>T (p.Ser7=)
|
|
|
NM_006514.4(SCN10A):c.2208C>G (p.Ile736Met)
|
|
|
NM_006514.4(SCN10A):c.2211C>G (p.Val737=)
|
|
|
NM_006514.4(SCN10A):c.2229G>A (p.Glu743=)
|
rs1223455642
|
|
NM_006514.4(SCN10A):c.2240C>T (p.Ala747Val)
|
rs2063607705
|
|
NM_006514.4(SCN10A):c.2248G>C (p.Gly750Arg)
|
rs773267272
|
|
NM_006514.4(SCN10A):c.224T>C (p.Ile75Thr)
|
rs1200209497
|
|
NM_006514.4(SCN10A):c.2256G>C (p.Leu752=)
|
|
|
NM_006514.4(SCN10A):c.226G>A (p.Gly76Arg)
|
|
|
NM_006514.4(SCN10A):c.2275C>T (p.Arg759Cys)
|
rs745659019
|
|
NM_006514.4(SCN10A):c.2276G>A (p.Arg759His)
|
|
|
NM_006514.4(SCN10A):c.2280+17G>C
|
|
|
NM_006514.4(SCN10A):c.2280+20G>A
|
|
|
NM_006514.4(SCN10A):c.2281-11T>C
|
|
|
NM_006514.4(SCN10A):c.2281-18G>A
|
|
|
NM_006514.4(SCN10A):c.2281-19G>A
|
|
|
NM_006514.4(SCN10A):c.2281-19G>C
|
rs367571807
|
|
NM_006514.4(SCN10A):c.2281-20C>T
|
|
|
NM_006514.4(SCN10A):c.2284C>A (p.Arg762Ser)
|
rs577819850
|
|
NM_006514.4(SCN10A):c.2311C>G (p.Pro771Ala)
|
rs2063486138
|
|
NM_006514.4(SCN10A):c.2312C>T (p.Pro771Leu)
|
rs758157003
|
|
NM_006514.4(SCN10A):c.2325A>T (p.Thr775=)
|
|
|
NM_006514.4(SCN10A):c.232C>G (p.Pro78Ala)
|
|
|
NM_006514.4(SCN10A):c.2331C>A (p.Ile777=)
|
|
|
NM_006514.4(SCN10A):c.2337C>A (p.Ile779=)
|
|
|
NM_006514.4(SCN10A):c.2340C>T (p.Ile780=)
|
rs370722965
|
|
NM_006514.4(SCN10A):c.2349A>C (p.Ser783=)
|
rs990086821
|
|
NM_006514.4(SCN10A):c.2350G>A (p.Val784Met)
|
|
|
NM_006514.4(SCN10A):c.2352G>T (p.Val784=)
|
|
|
NM_006514.4(SCN10A):c.2372C>G (p.Thr791Ser)
|
rs1303166399
|
|
NM_006514.4(SCN10A):c.2390T>C (p.Ile797Thr)
|
|
|
NM_006514.4(SCN10A):c.2407C>T (p.Leu803=)
|
|
|
NM_006514.4(SCN10A):c.2414G>A (p.Gly805Asp)
|
rs779733116
|
|
NM_006514.4(SCN10A):c.2430G>A (p.Gly810=)
|
|
|
NM_006514.4(SCN10A):c.243T>A (p.Asp81Glu)
|
rs1060501717
|
|
NM_006514.4(SCN10A):c.2442dup (p.Asn815Ter)
|
rs1447743812
|
|
NM_006514.4(SCN10A):c.2443A>G (p.Asn815Asp)
|
rs148748248
|
|
NM_006514.4(SCN10A):c.2445C>A (p.Asn815Lys)
|
|
|
NM_006514.4(SCN10A):c.2466G>A (p.Ala822=)
|
|
|
NM_006514.4(SCN10A):c.2469C>G (p.Pro823=)
|
|
|
NM_006514.4(SCN10A):c.2476G>A (p.Asp826Asn)
|
rs199535863
|
|
NM_006514.4(SCN10A):c.2476G>T (p.Asp826Tyr)
|
rs199535863
|
|
NM_006514.4(SCN10A):c.2482C>T (p.Pro828Ser)
|
rs939348732
|
|
NM_006514.4(SCN10A):c.24C>G (p.Leu8=)
|
|
|
NM_006514.4(SCN10A):c.2502C>T (p.Asp834=)
|
|
|
NM_006514.4(SCN10A):c.2504T>A (p.Phe835Tyr)
|
rs2063482693
|
|
NM_006514.4(SCN10A):c.2516T>C (p.Phe839Ser)
|
rs1184583877
|
|
NM_006514.4(SCN10A):c.2524G>A (p.Val842Ile)
|
|
|
NM_006514.4(SCN10A):c.2531G>A (p.Arg844His)
|
|
|
NM_006514.4(SCN10A):c.2538C>T (p.Leu846=)
|
rs2126003014
|
|
NM_006514.4(SCN10A):c.2541T>C (p.Cys847=)
|
|
|
NM_006514.4(SCN10A):c.2566G>A (p.Ala856Thr)
|
|
|
NM_006514.4(SCN10A):c.2577A>C (p.Glu859Asp)
|
rs2063481465
|
|
NM_006514.4(SCN10A):c.2578G>A (p.Val860Ile)
|
rs747984594
|
|
NM_006514.4(SCN10A):c.2578G>T (p.Val860Phe)
|
|
|
NM_006514.4(SCN10A):c.2593A>G (p.Ile865Val)
|
rs1553617020
|
|
NM_006514.4(SCN10A):c.2635C>T (p.Leu879=)
|
rs201330370
|
|
NM_006514.4(SCN10A):c.2638G>A (p.Val880Met)
|
rs2126002831
|
|
NM_006514.4(SCN10A):c.263C>T (p.Thr88Ile)
|
rs1226072923
|
|
NM_006514.4(SCN10A):c.2640+18C>T
|
|
|
NM_006514.4(SCN10A):c.2640+8G>A
|
|
|
NM_006514.4(SCN10A):c.2641-19T>C
|
|
|
NM_006514.4(SCN10A):c.2641-7T>C
|
|
|
NM_006514.4(SCN10A):c.2643G>T (p.Val881=)
|
rs1053471580
|
|
NM_006514.4(SCN10A):c.2644C>G (p.Leu882Val)
|
rs2063465316
|
|
NM_006514.4(SCN10A):c.2648A>G (p.Asn883Ser)
|
|
|
NM_006514.4(SCN10A):c.2650C>G (p.Leu884Val)
|
|
|
NM_006514.4(SCN10A):c.2656A>G (p.Ile886Val)
|
rs2063465062
|
|
NM_006514.4(SCN10A):c.2676T>C (p.Ser892=)
|
|
|
NM_006514.4(SCN10A):c.2679C>T (p.Phe893=)
|
|
|
NM_006514.4(SCN10A):c.2680_2681insTTATACTCTAAGTTTTAGGGTACAT (p.Ser894delinsIleIleLeuTer)
|
|
|
NM_006514.4(SCN10A):c.2680_2681insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTAAACCTTTTCAGCTCCTTATTTTTTAATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATCA (p.Ser894delinsIlePhePhePhePhePhePheXaaXaaXaaXaaAsnLeuPheSerSerLeuPhePheAsnLeuPhePhePhePhePhePhePhePhePheLeuLeuTyrSerLysPheTer)
|
|
|
NM_006514.4(SCN10A):c.268C>A (p.Arg90=)
|
rs144270136
|
|
NM_006514.4(SCN10A):c.270+10A>G
|
|
|
NM_006514.4(SCN10A):c.270+20A>T
|
|
|
NM_006514.4(SCN10A):c.270+2T>C
|
|
|
NM_006514.4(SCN10A):c.271-15T>C
|
|
|
NM_006514.4(SCN10A):c.271-18T>C
|
rs2126060275
|
|
NM_006514.4(SCN10A):c.2739C>T (p.Ala913=)
|
|
|
NM_006514.4(SCN10A):c.2763_2764delinsTG (p.His922Asp)
|
rs2063463158
|
|
NM_006514.4(SCN10A):c.2768G>A (p.Arg923His)
|
rs759458296
|
|
NM_006514.4(SCN10A):c.2768G>C (p.Arg923Pro)
|
rs759458296
|
|
NM_006514.4(SCN10A):c.2772C>T (p.Thr924=)
|
rs1448743354
|
|
NM_006514.4(SCN10A):c.2779G>T (p.Ala927Ser)
|
rs774405519
|
|
NM_006514.4(SCN10A):c.2796C>T (p.Phe932=)
|
rs2126001483
|
|
NM_006514.4(SCN10A):c.2818C>A (p.Gln940Lys)
|
|
|
NM_006514.4(SCN10A):c.2826G>A (p.Lys942=)
|
|
|
NM_006514.4(SCN10A):c.2830G>A (p.Glu944Lys)
|
|
|
NM_006514.4(SCN10A):c.2832G>A (p.Glu944=)
|
|
|
NM_006514.4(SCN10A):c.2832G>T (p.Glu944Asp)
|
|
|
NM_006514.4(SCN10A):c.2841G>T (p.Leu947=)
|
rs765937462
|
|
NM_006514.4(SCN10A):c.2842G>A (p.Val948Met)
|
rs145694222
|
|
NM_006514.4(SCN10A):c.2850A>G (p.Lys950=)
|
rs7374804
|
|
NM_006514.4(SCN10A):c.2850A>T (p.Lys950Asn)
|
rs7374804
|
|
NM_006514.4(SCN10A):c.2854C>G (p.Pro952Ala)
|
rs370880796
|
|
NM_006514.4(SCN10A):c.2855C>T (p.Pro952Leu)
|
rs774315933
|
|
NM_006514.4(SCN10A):c.285G>T (p.Leu95=)
|
rs560088419
|
|
NM_006514.4(SCN10A):c.2863A>T (p.Ser955Cys)
|
rs1674245596
|
|
NM_006514.4(SCN10A):c.2901C>A (p.Ala967=)
|
|
|
NM_006514.4(SCN10A):c.2902A>C (p.Arg968=)
|
rs746193804
|
|
NM_006514.4(SCN10A):c.2902del (p.Arg968fs)
|
rs1553616744
|
|
NM_006514.4(SCN10A):c.2910C>T (p.Ser970=)
|
|
|
NM_006514.4(SCN10A):c.2917G>A (p.Gly973Arg)
|
|
|
NM_006514.4(SCN10A):c.2922C>T (p.Leu974=)
|
|
|
NM_006514.4(SCN10A):c.292G>A (p.Gly98Arg)
|
|
|
NM_006514.4(SCN10A):c.2940C>G (p.Pro980=)
|
rs1192005964
|
|
NM_006514.4(SCN10A):c.2949G>A (p.Glu983=)
|
|
|
NM_006514.4(SCN10A):c.294dup (p.Arg99fs)
|
|
|
NM_006514.4(SCN10A):c.2976T>C (p.Thr992=)
|
|
|
NM_006514.4(SCN10A):c.3002_3005del (p.Glu1001fs)
|
rs2126001175
|
|
NM_006514.4(SCN10A):c.3009A>G (p.Glu1003=)
|
|
|
NM_006514.4(SCN10A):c.3016C>G (p.Leu1006Val)
|
rs963394464
|
|
NM_006514.4(SCN10A):c.3020A>G (p.Asp1007Gly)
|
|
|
NM_006514.4(SCN10A):c.3038G>A (p.Gly1013Asp)
|
rs1228092020
|
|
NM_006514.4(SCN10A):c.3041G>A (p.Gly1014Glu)
|
|
|
NM_006514.4(SCN10A):c.3056G>A (p.Ser1019Asn)
|
|
|
NM_006514.4(SCN10A):c.305C>G (p.Ser102Cys)
|
rs866597161
|
|
NM_006514.4(SCN10A):c.3077C>T (p.Pro1026Leu)
|
rs2063457731
|
|
NM_006514.4(SCN10A):c.3087+18G>A
|
|
|
NM_006514.4(SCN10A):c.3087+20G>T
|
|
|
NM_006514.4(SCN10A):c.3088-13C>A
|
|
|
NM_006514.4(SCN10A):c.3088-14C>T
|
|
|
NM_006514.4(SCN10A):c.3088-180_3088-5del
|
rs2126000100
|
|
NM_006514.4(SCN10A):c.3088-20T>G
|
|
|
NM_006514.4(SCN10A):c.3088-4C>G
|
|
|
NM_006514.4(SCN10A):c.3095del (p.Gln1032fs)
|
|
|
NM_006514.4(SCN10A):c.3098T>A (p.Leu1033Gln)
|
rs751664345
|
|
NM_006514.4(SCN10A):c.3108C>T (p.Val1036=)
|
rs970173552
|
|
NM_006514.4(SCN10A):c.3112A>C (p.Arg1038=)
|
|
|
NM_006514.4(SCN10A):c.3114G>A (p.Arg1038=)
|
|
|
NM_006514.4(SCN10A):c.3116G>A (p.Cys1039Tyr)
|
rs765623505
|
|
NM_006514.4(SCN10A):c.3116G>T (p.Cys1039Phe)
|
|
|
NM_006514.4(SCN10A):c.3134C>G (p.Pro1045Arg)
|
rs2126000012
|
|
NM_006514.4(SCN10A):c.3140G>A (p.Ser1047Asn)
|
|
|
NM_006514.4(SCN10A):c.3140G>C (p.Ser1047Thr)
|
rs771555935
|
|
NM_006514.4(SCN10A):c.3170T>G (p.Leu1057Arg)
|
rs1559424975
|
|
NM_006514.4(SCN10A):c.3174T>C (p.Ala1058=)
|
|
|
NM_006514.4(SCN10A):c.3176C>T (p.Pro1059Leu)
|
|
|
NM_006514.4(SCN10A):c.3181C>T (p.Leu1061=)
|
|
|
NM_006514.4(SCN10A):c.31A>G (p.Asn11Asp)
|
rs2126062026
|
|
NM_006514.4(SCN10A):c.3201T>A (p.Asp1067Glu)
|
|
|
NM_006514.4(SCN10A):c.3228+11C>A
|
|
|
NM_006514.4(SCN10A):c.3228+6T>A
|
rs748066260
|
|
NM_006514.4(SCN10A):c.3229-11C>T
|
|
|
NM_006514.4(SCN10A):c.3230G>A (p.Gly1077Glu)
|
rs1309415508
|
|
NM_006514.4(SCN10A):c.3231A>C (p.Gly1077=)
|
|
|
NM_006514.4(SCN10A):c.3233T>C (p.Val1078Ala)
|
|
|
NM_006514.4(SCN10A):c.3237C>A (p.Asp1079Glu)
|
rs745921364
|
|
NM_006514.4(SCN10A):c.3255G>A (p.Glu1085=)
|
rs143610297
|
|
NM_006514.4(SCN10A):c.3256G>T (p.Gly1086Cys)
|
rs755448967
|
|
NM_006514.4(SCN10A):c.3299A>G (p.Lys1100Arg)
|
rs928529158
|
|
NM_006514.4(SCN10A):c.3318T>C (p.Asp1106=)
|
|
|
NM_006514.4(SCN10A):c.3347C>T (p.Thr1116Ile)
|
rs778116360
|
|
NM_006514.4(SCN10A):c.3352+20C>T
|
|
|
NM_006514.4(SCN10A):c.3353-14A>C
|
|
|
NM_006514.4(SCN10A):c.3353-4A>G
|
rs2125997358
|
|
NM_006514.4(SCN10A):c.3355T>A (p.Cys1119Ser)
|
rs1450059546
|
|
NM_006514.4(SCN10A):c.3358A>C (p.Ile1120Leu)
|
|
|
NM_006514.4(SCN10A):c.3361C>A (p.Arg1121Ser)
|
rs146965005
|
|
NM_006514.4(SCN10A):c.3361C>T (p.Arg1121Cys)
|
rs146965005
|
|
NM_006514.4(SCN10A):c.3362G>A (p.Arg1121His)
|
|
|
NM_006514.4(SCN10A):c.337T>C (p.Phe113Leu)
|
|
|
NM_006514.4(SCN10A):c.3386A>C (p.Asp1129Ala)
|
rs1274496159
|
|
NM_006514.4(SCN10A):c.3393C>T (p.Thr1131=)
|
|
|
NM_006514.4(SCN10A):c.3413G>C (p.Gly1138Ala)
|
|
|
NM_006514.4(SCN10A):c.344C>T (p.Pro115Leu)
|
rs760579685
|
|
NM_006514.4(SCN10A):c.3468C>T (p.Ser1156=)
|
rs1348668186
|
|
NM_006514.4(SCN10A):c.3474C>T (p.Ile1158=)
|
|
|
NM_006514.4(SCN10A):c.3481A>G (p.Met1161Val)
|
|
|
NM_006514.4(SCN10A):c.3495C>T (p.Ser1165=)
|
|
|
NM_006514.4(SCN10A):c.3507+13A>C
|
|
|
NM_006514.4(SCN10A):c.3507+13A>G
|
|
|
NM_006514.4(SCN10A):c.3507+16G>C
|
|
|
NM_006514.4(SCN10A):c.3507+8G>A
|
|
|
NM_006514.4(SCN10A):c.3508-15C>A
|
|
|
NM_006514.4(SCN10A):c.3508-9T>C
|
|
|
NM_006514.4(SCN10A):c.3508-9T>G
|
rs1052483879
|
|
NM_006514.4(SCN10A):c.351C>A (p.Asn117Lys)
|
|
|
NM_006514.4(SCN10A):c.3521_3522delinsTA (p.Tyr1174Leu)
|
|
|
NM_006514.4(SCN10A):c.352C>A (p.Leu118Met)
|
|
|
NM_006514.4(SCN10A):c.3531C>T (p.Asp1177=)
|
rs775657564
|
|
NM_006514.4(SCN10A):c.3543G>A (p.Thr1181=)
|
|
|
NM_006514.4(SCN10A):c.3561G>A (p.Glu1187=)
|
|
|
NM_006514.4(SCN10A):c.3563A>T (p.Tyr1188Phe)
|
rs549879065
|
|
NM_006514.4(SCN10A):c.3591T>C (p.Phe1197=)
|
|
|
NM_006514.4(SCN10A):c.3639C>T (p.Tyr1213=)
|
rs1396146975
|
|
NM_006514.4(SCN10A):c.364A>G (p.Thr122Ala)
|
|
|
NM_006514.4(SCN10A):c.365C>A (p.Thr122Lys)
|
|
|
NM_006514.4(SCN10A):c.3664G>C (p.Asp1222His)
|
rs759804091
|
|
NM_006514.4(SCN10A):c.3666C>A (p.Asp1222Glu)
|
rs774519441
|
|
NM_006514.4(SCN10A):c.3672C>T (p.Leu1224=)
|
rs1180201458
|
|
NM_006514.4(SCN10A):c.3681+11C>G
|
rs2125994372
|
|
NM_006514.4(SCN10A):c.3681+13G>C
|
|
|
NM_006514.4(SCN10A):c.3682-6A>C
|
rs2125991226
|
|
NM_006514.4(SCN10A):c.368C>T (p.Ala123Val)
|
rs537640516
|
|
NM_006514.4(SCN10A):c.3691A>G (p.Ile1231Val)
|
rs775185585
|
|
NM_006514.4(SCN10A):c.3703G>A (p.Ala1235Thr)
|
|
|
NM_006514.4(SCN10A):c.3704C>A (p.Ala1235Glu)
|
rs765984332
|
|
NM_006514.4(SCN10A):c.3712C>T (p.Leu1238=)
|
|
|
NM_006514.4(SCN10A):c.3729G>C (p.Val1243=)
|
|
|
NM_006514.4(SCN10A):c.3732T>A (p.Ala1244=)
|
|
|
NM_006514.4(SCN10A):c.3735_3804+243del
|
rs2125990836
|
|
NM_006514.4(SCN10A):c.3746T>C (p.Leu1249Pro)
|
rs2125991146
|
|
NM_006514.4(SCN10A):c.3757C>T (p.Arg1253Cys)
|
rs145909172
|
|
NM_006514.4(SCN10A):c.376G>A (p.Val126Met)
|
rs1553625946
|
|
NM_006514.4(SCN10A):c.3775C>A (p.Arg1259=)
|
|
|
NM_006514.4(SCN10A):c.3775C>T (p.Arg1259Trp)
|
rs765230695
|
|
NM_006514.4(SCN10A):c.3780T>A (p.Ala1260=)
|
|
|
NM_006514.4(SCN10A):c.3783T>G (p.Leu1261=)
|
rs367618914
|
|
NM_006514.4(SCN10A):c.3787C>T (p.Arg1263Ter)
|
|
|
NM_006514.4(SCN10A):c.3788G>T (p.Arg1263Leu)
|
|
|
NM_006514.4(SCN10A):c.3788del (p.Arg1263fs)
|
|
|
NM_006514.4(SCN10A):c.3800T>G (p.Met1267Arg)
|
rs774337248
|
|
NM_006514.4(SCN10A):c.3804+19C>A
|
|
|
NM_006514.4(SCN10A):c.3804+19C>T
|
|
|
NM_006514.4(SCN10A):c.3804+3A>C
|
|
|
NM_006514.4(SCN10A):c.3804+9G>A
|
rs2063303150
|
|
NM_006514.4(SCN10A):c.3805-13T>C
|
|
|
NM_006514.4(SCN10A):c.3805-7C>A
|
rs750148431
|
|
NM_006514.4(SCN10A):c.3811G>A (p.Val1271Met)
|
|
|
NM_006514.4(SCN10A):c.3813G>A (p.Val1271=)
|
|
|
NM_006514.4(SCN10A):c.3820C>G (p.Leu1274Val)
|
rs1362890643
|
|
NM_006514.4(SCN10A):c.3822G>C (p.Leu1274=)
|
|
|
NM_006514.4(SCN10A):c.3828C>A (p.Gly1276=)
|
rs375572917
|
|
NM_006514.4(SCN10A):c.3828C>T (p.Gly1276=)
|
|
|
NM_006514.4(SCN10A):c.3837A>G (p.Pro1279=)
|
|
|
NM_006514.4(SCN10A):c.3837A>T (p.Pro1279=)
|
|
|
NM_006514.4(SCN10A):c.3844A>G (p.Met1282Val)
|
|
|
NM_006514.4(SCN10A):c.3844A>T (p.Met1282Leu)
|
rs1006794198
|
|
NM_006514.4(SCN10A):c.3852C>T (p.Val1284=)
|
|
|
NM_006514.4(SCN10A):c.3859G>T (p.Val1287Phe)
|
rs145032037
|
|
NM_006514.4(SCN10A):c.3879C>T (p.Leu1293=)
|
|
|
NM_006514.4(SCN10A):c.3884T>C (p.Phe1295Ser)
|
|
|
NM_006514.4(SCN10A):c.3884del (p.Phe1295fs)
|
rs2063284404
|
|
NM_006514.4(SCN10A):c.3887G>T (p.Ser1296Ile)
|
rs779527264
|
|
NM_006514.4(SCN10A):c.389+13C>T
|
|
|
NM_006514.4(SCN10A):c.389+14G>A
|
|
|
NM_006514.4(SCN10A):c.389+15A>G
|
|
|
NM_006514.4(SCN10A):c.389+20C>A
|
|
|
NM_006514.4(SCN10A):c.3893T>C (p.Met1298Thr)
|
|
|
NM_006514.4(SCN10A):c.3896G>T (p.Gly1299Val)
|
rs2125989927
|
|
NM_006514.4(SCN10A):c.390-11A>C
|
|
|
NM_006514.4(SCN10A):c.390-18T>G
|
|
|
NM_006514.4(SCN10A):c.390-20C>T
|
|
|
NM_006514.4(SCN10A):c.390-7C>T
|
rs2126057457
|
|
NM_006514.4(SCN10A):c.390-9G>C
|
rs370917734
|
|
NM_006514.4(SCN10A):c.3904C>G (p.Leu1302Val)
|
rs2063284029
|
|
NM_006514.4(SCN10A):c.3910G>A (p.Ala1304Thr)
|
rs142173735
|
|
NM_006514.4(SCN10A):c.3942C>G (p.Thr1314=)
|
|
|
NM_006514.4(SCN10A):c.3957C>T (p.Ser1319=)
|
rs770088715
|
|
NM_006514.4(SCN10A):c.3958C>T (p.Leu1320Phe)
|
rs373466551
|
|
NM_006514.4(SCN10A):c.3963A>G (p.Val1321=)
|
|
|
NM_006514.4(SCN10A):c.3964C>G (p.Pro1322Ala)
|
|
|
NM_006514.4(SCN10A):c.397A>G (p.Ser133Gly)
|
|
|
NM_006514.4(SCN10A):c.3983A>C (p.Asn1328Thr)
|
rs958426415
|
|
NM_006514.4(SCN10A):c.3988T>A (p.Ser1330Thr)
|
rs1372622252
|
|
NM_006514.4(SCN10A):c.3991G>A (p.Asp1331Asn)
|
rs1559415879
|
|
NM_006514.4(SCN10A):c.399T>A (p.Ser133Arg)
|
|
|
NM_006514.4(SCN10A):c.401T>G (p.Leu134Ter)
|
rs1006768253
|
|
NM_006514.4(SCN10A):c.402A>G (p.Leu134=)
|
|
|
NM_006514.4(SCN10A):c.4030G>A (p.Val1344Ile)
|
rs752648254
|
|
NM_006514.4(SCN10A):c.4048T>C (p.Phe1350Leu)
|
|
|
NM_006514.4(SCN10A):c.4086G>A (p.Gln1362=)
|
|
|
NM_006514.4(SCN10A):c.4087G>A (p.Val1363Met)
|
|
|
NM_006514.4(SCN10A):c.4089+11C>T
|
rs2125989692
|
|
NM_006514.4(SCN10A):c.4089+1G>A
|
rs778498254
|
|
NM_006514.4(SCN10A):c.4089+2T>C
|
rs1553614805
|
|
NM_006514.4(SCN10A):c.4090-12C>G
|
|
|
NM_006514.4(SCN10A):c.4090-15G>T
|
|
|
NM_006514.4(SCN10A):c.4090-16T>C
|
rs1200895731
|
|
NM_006514.4(SCN10A):c.4090-8G>T
|
|
|
NM_006514.4(SCN10A):c.4091C>T (p.Ala1364Val)
|
rs2125988853
|
|
NM_006514.4(SCN10A):c.4093A>G (p.Thr1365Ala)
|
rs1350489552
|
|
NM_006514.4(SCN10A):c.4094C>A (p.Thr1365Asn)
|
rs748854017
|
|
NM_006514.4(SCN10A):c.4096T>G (p.Phe1366Val)
|
|
|
NM_006514.4(SCN10A):c.4100_4101del (p.Lys1367fs)
|
rs1369457221
|
|
NM_006514.4(SCN10A):c.4106G>T (p.Trp1369Leu)
|
rs2063266357
|
|
NM_006514.4(SCN10A):c.4116T>C (p.Ile1372=)
|
rs2063266094
|
|
NM_006514.4(SCN10A):c.4121A>C (p.Tyr1374Ser)
|
rs1160216765
|
|
NM_006514.4(SCN10A):c.4124C>T (p.Ala1375Val)
|
|
|
NM_006514.4(SCN10A):c.4137C>A (p.Ser1379=)
|
rs779905648
|
|
NM_006514.4(SCN10A):c.4143+3G>A
|
rs1219287348
|
|
NM_006514.4(SCN10A):c.4143+6T>A
|
|
|
NM_006514.4(SCN10A):c.4144-16_4144-15del
|
rs2125987928
|
|
NM_006514.4(SCN10A):c.4144-3C>A
|
|
|
NM_006514.4(SCN10A):c.4150A>G (p.Met1384Val)
|
rs1559414230
|
|
NM_006514.4(SCN10A):c.4172A>G (p.Asn1391Ser)
|
rs767699386
|
|
NM_006514.4(SCN10A):c.4197C>T (p.Val1399=)
|
|
|
NM_006514.4(SCN10A):c.41G>A (p.Arg14His)
|
rs141207048
|
|
NM_006514.4(SCN10A):c.41G>T (p.Arg14Leu)
|
rs141207048
|
|
NM_006514.4(SCN10A):c.4201T>C (p.Phe1401Leu)
|
rs572843309
|
|
NM_006514.4(SCN10A):c.4205T>C (p.Ile1402Thr)
|
|
|
NM_006514.4(SCN10A):c.4217G>C (p.Gly1406Ala)
|
|
|
NM_006514.4(SCN10A):c.4221C>A (p.Phe1407Leu)
|
rs1060501715
|
|
NM_006514.4(SCN10A):c.4232A>C (p.Asn1411Thr)
|
rs769359391
|
|
NM_006514.4(SCN10A):c.4233T>C (p.Asn1411=)
|
|
|
NM_006514.4(SCN10A):c.4263C>T (p.Phe1421=)
|
rs922198973
|
|
NM_006514.4(SCN10A):c.4265A>G (p.Asn1422Ser)
|
|
|
NM_006514.4(SCN10A):c.4270C>T (p.Gln1424Ter)
|
rs1027297455
|
|
NM_006514.4(SCN10A):c.4282-14G>C
|
rs1158857303
|
|
NM_006514.4(SCN10A):c.4282-16G>T
|
|
|
NM_006514.4(SCN10A):c.4296C>T (p.Asp1432=)
|
|
|
NM_006514.4(SCN10A):c.429T>C (p.Asn143=)
|
|
|
NM_006514.4(SCN10A):c.42T>C (p.Arg14=)
|
rs2126062003
|
|
NM_006514.4(SCN10A):c.4307C>G (p.Thr1436Arg)
|
rs1278000627
|
|
NM_006514.4(SCN10A):c.4311G>A (p.Glu1437=)
|
|
|
NM_006514.4(SCN10A):c.4312G>A (p.Glu1438Lys)
|
|
|
NM_006514.4(SCN10A):c.431G>A (p.Cys144Tyr)
|
|
|
NM_006514.4(SCN10A):c.4320G>A (p.Lys1440=)
|
|
|
NM_006514.4(SCN10A):c.4335C>T (p.Ala1445=)
|
rs2125986203
|
|
NM_006514.4(SCN10A):c.4342A>T (p.Lys1448Ter)
|
rs1420782164
|
|
NM_006514.4(SCN10A):c.435G>A (p.Val145=)
|
|
|
NM_006514.4(SCN10A):c.4365G>A (p.Gln1455=)
|
rs2125986176
|
|
NM_006514.4(SCN10A):c.4368G>A (p.Lys1456=)
|
|
|
NM_006514.4(SCN10A):c.4378C>A (p.Arg1460=)
|
rs148619598
|
|
NM_006514.4(SCN10A):c.4379G>C (p.Arg1460Pro)
|
rs369399424
|
|
NM_006514.4(SCN10A):c.4382C>A (p.Pro1461His)
|
rs2125986146
|
|
NM_006514.4(SCN10A):c.4384C>T (p.Leu1462=)
|
|
|
NM_006514.4(SCN10A):c.4384del (p.Pro1461_Leu1462insTer)
|
rs2063220383
|
|
NM_006514.4(SCN10A):c.4386+20T>C
|
|
|
NM_006514.4(SCN10A):c.4386G>A (p.Leu1462=)
|
rs1306366227
|
|
NM_006514.4(SCN10A):c.4395C>T (p.Phe1465=)
|
|
|
NM_006514.4(SCN10A):c.4397A>G (p.Gln1466Arg)
|
|
|
NM_006514.4(SCN10A):c.439A>G (p.Met147Val)
|
|
|
NM_006514.4(SCN10A):c.4405G>C (p.Val1469Leu)
|
rs532793715
|
|
NM_006514.4(SCN10A):c.4415T>C (p.Ile1472Thr)
|
rs1286314604
|
|
NM_006514.4(SCN10A):c.4421C>A (p.Thr1474Asn)
|
rs1559409413
|
|
NM_006514.4(SCN10A):c.4446C>G (p.Ile1482Met)
|
|
|
NM_006514.4(SCN10A):c.445C>G (p.Arg149Gly)
|
rs745868315
|
|
NM_006514.4(SCN10A):c.4468A>G (p.Met1490Val)
|
rs1199205585
|
|
NM_006514.4(SCN10A):c.4475C>G (p.Thr1492Ser)
|
rs2125982925
|
|
NM_006514.4(SCN10A):c.4494T>C (p.Asp1498=)
|
rs2125982895
|
|
NM_006514.4(SCN10A):c.4502G>A (p.Ser1501Asn)
|
rs2063161330
|
|
NM_006514.4(SCN10A):c.451G>C (p.Asp151His)
|
|
|
NM_006514.4(SCN10A):c.4522C>T (p.Leu1508=)
|
|
|
NM_006514.4(SCN10A):c.4540T>A (p.Phe1514Ile)
|
rs776552739
|
|
NM_006514.4(SCN10A):c.4555T>C (p.Phe1519Leu)
|
rs2063160638
|
|
NM_006514.4(SCN10A):c.4559C>T (p.Thr1520Ile)
|
|
|
NM_006514.4(SCN10A):c.4562G>A (p.Gly1521Asp)
|
|
|
NM_006514.4(SCN10A):c.4564G>A (p.Glu1522Lys)
|
|
|
NM_006514.4(SCN10A):c.4570G>A (p.Val1524Ile)
|
|
|
NM_006514.4(SCN10A):c.4574T>C (p.Met1525Thr)
|
|
|
NM_006514.4(SCN10A):c.4585G>T (p.Ala1529Ser)
|
rs757916036
|
|
NM_006514.4(SCN10A):c.4602C>A (p.Tyr1534Ter)
|
|
|
NM_006514.4(SCN10A):c.4614C>T (p.Gly1538=)
|
|
|
NM_006514.4(SCN10A):c.4620T>C (p.Asn1540=)
|
rs2125982760
|
|
NM_006514.4(SCN10A):c.4622T>C (p.Val1541Ala)
|
|
|
NM_006514.4(SCN10A):c.4623G>T (p.Val1541=)
|
|
|
NM_006514.4(SCN10A):c.4629C>T (p.Asp1543=)
|
|
|
NM_006514.4(SCN10A):c.4638G>C (p.Val1546=)
|
|
|
NM_006514.4(SCN10A):c.4669dup (p.Ser1557fs)
|
|
|
NM_006514.4(SCN10A):c.4671T>C (p.Ser1557=)
|
rs2063123613
|
|
NM_006514.4(SCN10A):c.4672G>A (p.Ala1558Thr)
|
rs1559407312
|
|
NM_006514.4(SCN10A):c.4675A>G (p.Ile1559Val)
|
rs369399641
|
|
NM_006514.4(SCN10A):c.4680T>C (p.Leu1560=)
|
|
|
NM_006514.4(SCN10A):c.4683G>A (p.Lys1561=)
|
|
|
NM_006514.4(SCN10A):c.4684T>A (p.Ser1562Thr)
|
|
|
NM_006514.4(SCN10A):c.4694G>A (p.Ser1565Asn)
|
rs200063383
|
|
NM_006514.4(SCN10A):c.470+3G>C
|
|
|
NM_006514.4(SCN10A):c.4708A>G (p.Thr1570Ala)
|
|
|
NM_006514.4(SCN10A):c.4709C>A (p.Thr1570Lys)
|
rs772484960
|
|
NM_006514.4(SCN10A):c.471-3C>G
|
|
|
NM_006514.4(SCN10A):c.4720G>A (p.Val1574Ile)
|
rs1293275271
|
|
NM_006514.4(SCN10A):c.4723A>G (p.Ile1575Val)
|
|
|
NM_006514.4(SCN10A):c.4745G>A (p.Arg1582His)
|
rs759164988
|
|
NM_006514.4(SCN10A):c.4747A>C (p.Ile1583Leu)
|
rs2125980496
|
|
NM_006514.4(SCN10A):c.474T>C (p.Tyr158=)
|
|
|
NM_006514.4(SCN10A):c.4756C>A (p.Leu1586Met)
|
rs2125980484
|
|
NM_006514.4(SCN10A):c.4758G>A (p.Leu1586=)
|
|
|
NM_006514.4(SCN10A):c.4762C>A (p.Arg1588=)
|
rs142537392
|
|
NM_006514.4(SCN10A):c.4766C>A (p.Ala1589Glu)
|
rs753004431
|
|
NM_006514.4(SCN10A):c.4767G>A (p.Ala1589=)
|
|
|
NM_006514.4(SCN10A):c.4771A>C (p.Lys1591Gln)
|
|
|
NM_006514.4(SCN10A):c.4775_4776dup (p.Ile1593fs)
|
rs1191414961
|
|
NM_006514.4(SCN10A):c.4781G>A (p.Arg1594His)
|
|
|
NM_006514.4(SCN10A):c.4787T>A (p.Leu1596Gln)
|
|
|
NM_006514.4(SCN10A):c.4796C>T (p.Ala1599Val)
|
|
|
NM_006514.4(SCN10A):c.4798C>T (p.Leu1600Phe)
|
|
|
NM_006514.4(SCN10A):c.4803G>A (p.Met1601Ile)
|
|
|
NM_006514.4(SCN10A):c.4818C>T (p.Ala1606=)
|
|
|
NM_006514.4(SCN10A):c.4827C>T (p.Asn1609=)
|
rs1575917547
|
|
NM_006514.4(SCN10A):c.4833G>T (p.Gly1611=)
|
|
|
NM_006514.4(SCN10A):c.4852A>C (p.Met1618Leu)
|
rs1575917442
|
|
NM_006514.4(SCN10A):c.4858A>G (p.Ile1620Val)
|
|
|
NM_006514.4(SCN10A):c.485T>G (p.Val162Gly)
|
rs2126041064
|
|
NM_006514.4(SCN10A):c.4866_4867delinsCG (p.Ile1623Val)
|
rs1575917354
|
|
NM_006514.4(SCN10A):c.4873_4878delinsATCTACTCCA (p.Gly1625fs)
|
rs1553613078
|
|
NM_006514.4(SCN10A):c.4893T>C (p.His1631=)
|
|
|
NM_006514.4(SCN10A):c.4899G>C (p.Arg1633Ser)
|
|
|
NM_006514.4(SCN10A):c.4902G>A (p.Trp1634Ter)
|
rs2125980207
|
|
NM_006514.4(SCN10A):c.4914C>T (p.Ile1638=)
|
|
|
NM_006514.4(SCN10A):c.4922T>C (p.Met1641Thr)
|
|
|
NM_006514.4(SCN10A):c.4923_4924del (p.Met1641fs)
|
rs774186159
|
|
NM_006514.4(SCN10A):c.4937C>A (p.Thr1646Asn)
|
rs2063118515
|
|
NM_006514.4(SCN10A):c.4941C>T (p.Phe1647=)
|
|
|
NM_006514.4(SCN10A):c.4954C>G (p.Leu1652Val)
|
rs1341990928
|
|
NM_006514.4(SCN10A):c.495C>T (p.Thr165=)
|
|
|
NM_006514.4(SCN10A):c.4983C>A (p.Ala1661=)
|
rs775273379
|
|
NM_006514.4(SCN10A):c.49A>G (p.Thr17Ala)
|
|
|
NM_006514.4(SCN10A):c.5016del (p.Asn1672fs)
|
rs2125980037
|
|
NM_006514.4(SCN10A):c.501A>G (p.Glu167=)
|
|
|
NM_006514.4(SCN10A):c.5022G>C (p.Gly1674=)
|
|
|
NM_006514.4(SCN10A):c.5023C>T (p.Pro1675Ser)
|
rs758877832
|
|
NM_006514.4(SCN10A):c.5028dup (p.Tyr1677fs)
|
rs748973626
|
|
NM_006514.4(SCN10A):c.5037C>A (p.Asp1679Glu)
|
rs1575916731
|
|
NM_006514.4(SCN10A):c.503C>G (p.Ala168Gly)
|
|
|
NM_006514.4(SCN10A):c.503C>T (p.Ala168Val)
|
rs558639346
|
|
NM_006514.4(SCN10A):c.5052C>G (p.Asn1684Lys)
|
|
|
NM_006514.4(SCN10A):c.5052C>T (p.Asn1684=)
|
|
|
NM_006514.4(SCN10A):c.5065A>G (p.Arg1689Gly)
|
rs767267531
|
|
NM_006514.4(SCN10A):c.5097C>G (p.Ile1699Met)
|
|
|
NM_006514.4(SCN10A):c.5100C>T (p.Ile1700=)
|
|
|
NM_006514.4(SCN10A):c.5105T>C (p.Phe1702Ser)
|
|
|
NM_006514.4(SCN10A):c.5116A>G (p.Ile1706Val)
|
rs968515082
|
|
NM_006514.4(SCN10A):c.5131C>T (p.Leu1711Phe)
|
rs2063114690
|
|
NM_006514.4(SCN10A):c.5144A>G (p.Asn1715Ser)
|
rs777258179
|
|
NM_006514.4(SCN10A):c.5156C>T (p.Ala1719Val)
|
|
|
NM_006514.4(SCN10A):c.5163T>A (p.Ile1721=)
|
|
|
NM_006514.4(SCN10A):c.5178T>C (p.Asn1726=)
|
|
|
NM_006514.4(SCN10A):c.5178T>G (p.Asn1726Lys)
|
rs767177596
|
|
NM_006514.4(SCN10A):c.5186C>A (p.Thr1729Lys)
|
|
|
NM_006514.4(SCN10A):c.5187G>A (p.Thr1729=)
|
|
|
NM_006514.4(SCN10A):c.5193G>A (p.Glu1731=)
|
rs996219366
|
|
NM_006514.4(SCN10A):c.5199T>C (p.Thr1733=)
|
|
|
NM_006514.4(SCN10A):c.5203C>T (p.Pro1735Ser)
|
rs1325931730
|
|
NM_006514.4(SCN10A):c.5209A>G (p.Ser1737Gly)
|
rs2063113172
|
|
NM_006514.4(SCN10A):c.5216_5217delinsTT (p.Asp1739Val)
|
rs1575916146
|
|
NM_006514.4(SCN10A):c.5218G>A (p.Asp1740Asn)
|
rs1445722582
|
|
NM_006514.4(SCN10A):c.5223T>C (p.Phe1741=)
|
|
|
NM_006514.4(SCN10A):c.5226C>T (p.Asp1742=)
|
rs1575916109
|
|
NM_006514.4(SCN10A):c.5250G>A (p.Lys1750=)
|
rs1188862833
|
|
NM_006514.4(SCN10A):c.5256C>A (p.Asp1752Glu)
|
rs138532656
|
|
NM_006514.4(SCN10A):c.5264C>G (p.Ala1755Gly)
|
rs552795944
|
|
NM_006514.4(SCN10A):c.5275A>G (p.Ile1759Val)
|
rs1226335596
|
|
NM_006514.4(SCN10A):c.5280C>T (p.Thr1760=)
|
|
|
NM_006514.4(SCN10A):c.5284T>G (p.Ser1762Ala)
|
|
|
NM_006514.4(SCN10A):c.5289T>G (p.Ala1763=)
|
rs1307495200
|
|
NM_006514.4(SCN10A):c.5291T>C (p.Leu1764Pro)
|
|
|
NM_006514.4(SCN10A):c.52C>T (p.Pro18Ser)
|
|
|
NM_006514.4(SCN10A):c.5308_5313del (p.Thr1770_Leu1771del)
|
rs769329264
|
|
NM_006514.4(SCN10A):c.5313_5316del (p.Ser1772fs)
|
|
|
NM_006514.4(SCN10A):c.5342A>G (p.Asn1781Ser)
|
rs372368062
|
|
NM_006514.4(SCN10A):c.5344C>A (p.Arg1782=)
|
rs988575222
|
|
NM_006514.4(SCN10A):c.5367C>T (p.Asp1789=)
|
|
|
NM_006514.4(SCN10A):c.536del (p.Leu179fs)
|
|
|
NM_006514.4(SCN10A):c.5376G>A (p.Leu1792=)
|
rs1488076050
|
|
NM_006514.4(SCN10A):c.5396A>G (p.His1799Arg)
|
rs2125979327
|
|
NM_006514.4(SCN10A):c.5400C>T (p.Cys1800=)
|
rs1575915419
|
|
NM_006514.4(SCN10A):c.5415T>C (p.Phe1805=)
|
rs2125979289
|
|
NM_006514.4(SCN10A):c.5426A>G (p.Lys1809Arg)
|
|
|
NM_006514.4(SCN10A):c.542A>C (p.Glu181Ala)
|
rs142203439
|
|
NM_006514.4(SCN10A):c.542A>G (p.Glu181Gly)
|
|
|
NM_006514.4(SCN10A):c.5440G>T (p.Glu1814Ter)
|
rs1559405898
|
|
NM_006514.4(SCN10A):c.544T>A (p.Phe182Ile)
|
rs1553623225
|
|
NM_006514.4(SCN10A):c.544T>C (p.Phe182Leu)
|
rs1553623225
|
|
NM_006514.4(SCN10A):c.5451G>A (p.Glu1817=)
|
rs1553612868
|
|
NM_006514.4(SCN10A):c.5459C>T (p.Ser1820Phe)
|
rs2063107708
|
|
NM_006514.4(SCN10A):c.5476GAG[1] (p.Glu1827del)
|
rs772082757
|
|
NM_006514.4(SCN10A):c.5479G>A (p.Glu1827Lys)
|
rs757155232
|
|
NM_006514.4(SCN10A):c.5488A>G (p.Met1830Val)
|
rs1253727199
|
|
NM_006514.4(SCN10A):c.5536C>A (p.Leu1846Ile)
|
rs1001583386
|
|
NM_006514.4(SCN10A):c.5548C>G (p.Gln1850Glu)
|
rs149504103
|
|
NM_006514.4(SCN10A):c.5551G>A (p.Glu1851Lys)
|
|
|
NM_006514.4(SCN10A):c.5583C>G (p.Ala1861=)
|
|
|
NM_006514.4(SCN10A):c.5594A>G (p.Tyr1865Cys)
|
rs377518708
|
|
NM_006514.4(SCN10A):c.559G>A (p.Asp187Asn)
|
|
|
NM_006514.4(SCN10A):c.5605C>G (p.Arg1869Gly)
|
|
|
NM_006514.4(SCN10A):c.5605C>T (p.Arg1869Cys)
|
rs141648641
|
|
NM_006514.4(SCN10A):c.5607C>T (p.Arg1869=)
|
|
|
NM_006514.4(SCN10A):c.5616A>G (p.Ala1872=)
|
|
|
NM_006514.4(SCN10A):c.5617C>T (p.Leu1873Phe)
|
|
|
NM_006514.4(SCN10A):c.5625C>T (p.Asn1875=)
|
rs1307500570
|
|
NM_006514.4(SCN10A):c.562C>G (p.Pro188Ala)
|
rs767815241
|
|
NM_006514.4(SCN10A):c.562C>T (p.Pro188Ser)
|
|
|
NM_006514.4(SCN10A):c.5631A>G (p.Pro1877=)
|
|
|
NM_006514.4(SCN10A):c.5633G>A (p.Cys1878Tyr)
|
|
|
NM_006514.4(SCN10A):c.5636T>G (p.Val1879Gly)
|
|
|
NM_006514.4(SCN10A):c.5656G>A (p.Ala1886Thr)
|
rs148979438
|
|
NM_006514.4(SCN10A):c.5658T>C (p.Ala1886=)
|
rs2125978837
|
|
NM_006514.4(SCN10A):c.5662T>A (p.Ser1888Thr)
|
rs2063103746
|
|
NM_006514.4(SCN10A):c.5667C>A (p.Leu1889=)
|
|
|
NM_006514.4(SCN10A):c.5671G>T (p.Asp1891Tyr)
|
rs2063103684
|
|
NM_006514.4(SCN10A):c.5698A>G (p.Asn1900Asp)
|
rs1265687114
|
|
NM_006514.4(SCN10A):c.5699A>G (p.Asn1900Ser)
|
|
|
NM_006514.4(SCN10A):c.5705A>C (p.Asn1902Thr)
|
rs756547221
|
|
NM_006514.4(SCN10A):c.570C>A (p.Asn190Lys)
|
rs766854459
|
|
NM_006514.4(SCN10A):c.5718A>G (p.Pro1906=)
|
|
|
NM_006514.4(SCN10A):c.5724A>T (p.Lys1908Asn)
|
rs555184897
|
|
NM_006514.4(SCN10A):c.5729A>C (p.Glu1910Ala)
|
|
|
NM_006514.4(SCN10A):c.5734G>T (p.Ala1912Ser)
|
|
|
NM_006514.4(SCN10A):c.574C>A (p.Leu192Met)
|
|
|
NM_006514.4(SCN10A):c.5760C>G (p.Ser1920=)
|
rs747009227
|
|
NM_006514.4(SCN10A):c.5762A>T (p.Tyr1921Phe)
|
rs778955408
|
|
NM_006514.4(SCN10A):c.576G>A (p.Leu192=)
|
|
|
NM_006514.4(SCN10A):c.5781C>T (p.Gly1927=)
|
rs781742545
|
|
NM_006514.4(SCN10A):c.5788G>A (p.Asp1930Asn)
|
|
|
NM_006514.4(SCN10A):c.5791dup (p.Arg1931fs)
|
rs2125978572
|
|
NM_006514.4(SCN10A):c.5804G>A (p.Arg1935Lys)
|
|
|
NM_006514.4(SCN10A):c.5817A>C (p.Ser1939=)
|
rs2063100895
|
|
NM_006514.4(SCN10A):c.5820A>G (p.Ile1940Met)
|
rs2063100815
|
|
NM_006514.4(SCN10A):c.5827G>T (p.Glu1943Ter)
|
rs2063100701
|
|
NM_006514.4(SCN10A):c.5834A>C (p.Glu1945Ala)
|
|
|
NM_006514.4(SCN10A):c.5838C>T (p.Ala1946=)
|
rs2125978496
|
|
NM_006514.4(SCN10A):c.5841C>A (p.Thr1947=)
|
|
|
NM_006514.4(SCN10A):c.5851C>T (p.Leu1951=)
|
|
|
NM_006514.4(SCN10A):c.5853G>T (p.Leu1951=)
|
|
|
NM_006514.4(SCN10A):c.5856T>C (p.Ile1952=)
|
|
|
NM_006514.4(SCN10A):c.5858C>T (p.Ala1953Val)
|
rs770070419
|
|
NM_006514.4(SCN10A):c.5863G>A (p.Gly1955Arg)
|
rs1575913891
|
|
NM_006514.4(SCN10A):c.586G>A (p.Val196Ile)
|
|
|
NM_006514.4(SCN10A):c.599+16dup
|
|
|
NM_006514.4(SCN10A):c.599+17G>T
|
|
|
NM_006514.4(SCN10A):c.599+18C>T
|
rs745850175
|
|
NM_006514.4(SCN10A):c.599+2T>C
|
rs746795885
|
|
NM_006514.4(SCN10A):c.599+7AT[3]
|
rs750166682
|
|
NM_006514.4(SCN10A):c.599+8dup
|
|
|
NM_006514.4(SCN10A):c.600-16A>G
|
|
|
NM_006514.4(SCN10A):c.600-9G>A
|
rs2126034412
|
|
NM_006514.4(SCN10A):c.605T>C (p.Val202Ala)
|
rs2063900078
|
|
NM_006514.4(SCN10A):c.610A>G (p.Thr204Ala)
|
|
|
NM_006514.4(SCN10A):c.616A>G (p.Ile206Val)
|
rs2063899867
|
|
NM_006514.4(SCN10A):c.61C>G (p.Leu21Val)
|
rs1553626259
|
|
NM_006514.4(SCN10A):c.625C>T (p.Arg209Cys)
|
|
|
NM_006514.4(SCN10A):c.639C>T (p.Gly213=)
|
rs1330929639
|
|
NM_006514.4(SCN10A):c.640C>T (p.Leu214=)
|
|
|
NM_006514.4(SCN10A):c.644G>A (p.Arg215Gln)
|
rs1417349620
|
|
NM_006514.4(SCN10A):c.651C>T (p.Phe217=)
|
|
|
NM_006514.4(SCN10A):c.66G>A (p.Val22=)
|
rs2126061965
|
|
NM_006514.4(SCN10A):c.691+15A>G
|
|
|
NM_006514.4(SCN10A):c.692-15G>C
|
|
|
NM_006514.4(SCN10A):c.692-20C>T
|
|
|
NM_006514.4(SCN10A):c.692-7C>T
|
|
|
NM_006514.4(SCN10A):c.692G>A (p.Gly231Asp)
|
rs764095900
|
|
NM_006514.4(SCN10A):c.70A>T (p.Ile24Leu)
|
|
|
NM_006514.4(SCN10A):c.714C>T (p.Ala238=)
|
|
|
NM_006514.4(SCN10A):c.731A>G (p.Lys244Arg)
|
|
|
NM_006514.4(SCN10A):c.733A>G (p.Lys245Glu)
|
rs780602857
|
|
NM_006514.4(SCN10A):c.738G>A (p.Leu246=)
|
rs1285616742
|
|
NM_006514.4(SCN10A):c.760A>G (p.Ile254Val)
|
rs766143752
|
|
NM_006514.4(SCN10A):c.762C>G (p.Ile254Met)
|
|
|
NM_006514.4(SCN10A):c.771A>C (p.Leu257=)
|
rs1575159247
|
|
NM_006514.4(SCN10A):c.792G>A (p.Gly264=)
|
|
|
NM_006514.4(SCN10A):c.795_800del (p.Gln266_Leu267del)
|
|
|
NM_006514.4(SCN10A):c.809del (p.Gly270fs)
|
rs749875280
|
|
NM_006514.4(SCN10A):c.80A>G (p.Gln27Arg)
|
|
|
NM_006514.4(SCN10A):c.816C>A (p.Leu272=)
|
|
|
NM_006514.4(SCN10A):c.826T>A (p.Cys276Ser)
|
|
|
NM_006514.4(SCN10A):c.842T>G (p.Met281Arg)
|
|
|
NM_006514.4(SCN10A):c.844G>A (p.Ala282Thr)
|
|
|
NM_006514.4(SCN10A):c.857C>A (p.Thr286Lys)
|
rs147150438
|
|
NM_006514.4(SCN10A):c.860C>G (p.Thr287Ser)
|
rs779570073
|
|
NM_006514.4(SCN10A):c.870A>G (p.Ser290=)
|
rs957449207
|
|
NM_006514.4(SCN10A):c.883+1del
|
rs1459269953
|
|
NM_006514.4(SCN10A):c.883+20T>C
|
|
|
NM_006514.4(SCN10A):c.890T>G (p.Ile297Ser)
|
rs553913580
|
|
NM_006514.4(SCN10A):c.908G>A (p.Gly303Asp)
|
|
|
NM_006514.4(SCN10A):c.91A>G (p.Lys31Glu)
|
|
|
NM_006514.4(SCN10A):c.921C>T (p.Pro307=)
|
rs192946276
|
|
NM_006514.4(SCN10A):c.926del (p.Leu309fs)
|
|
|
NM_006514.4(SCN10A):c.927G>A (p.Leu309=)
|
rs771583859
|
|
NM_006514.4(SCN10A):c.927del (p.Cys310fs)
|
rs2063859649
|
|
NM_006514.4(SCN10A):c.93G>A (p.Lys31=)
|
|
|
NM_006514.4(SCN10A):c.950+16A>G
|
|
|
NM_006514.4(SCN10A):c.950+4A>G
|
|
|
NM_006514.4(SCN10A):c.950+8C>T
|
|
|
NM_006514.4(SCN10A):c.951-12T>A
|
|
|
NM_006514.4(SCN10A):c.958C>T (p.Pro320Ser)
|
|
|
NM_006514.4(SCN10A):c.95A>G (p.Gln32Arg)
|
rs2064318777
|
|
NM_006514.4(SCN10A):c.963T>C (p.Asp321=)
|
|
|
NM_012282.3(KCNE5):c.-144-?_*892dup1465
|
|
|
NM_012282.4(KCNE5):c.100C>T (p.Arg34Cys)
|
|
|
NM_012282.4(KCNE5):c.124G>A (p.Val42Met)
|
|
|
NM_012282.4(KCNE5):c.130G>C (p.Asp44His)
|
rs1934267803
|
|
NM_012282.4(KCNE5):c.135T>C (p.Pro45=)
|
|
|
NM_012282.4(KCNE5):c.139G>C (p.Val47Leu)
|
|
|
NM_012282.4(KCNE5):c.13del (p.Glu5fs)
|
|
|
NM_012282.4(KCNE5):c.147C>T (p.Arg49=)
|
rs2147333975
|
|
NM_012282.4(KCNE5):c.169G>A (p.Asp57Asn)
|
|
|
NM_012282.4(KCNE5):c.179A>G (p.Tyr60Cys)
|
rs1934266717
|
|
NM_012282.4(KCNE5):c.186C>T (p.Tyr62=)
|
|
|
NM_012282.4(KCNE5):c.193C>T (p.Leu65Phe)
|
|
|
NM_012282.4(KCNE5):c.200T>A (p.Met67Lys)
|
|
|
NM_012282.4(KCNE5):c.202A>C (p.Ile68Leu)
|
|
|
NM_012282.4(KCNE5):c.203T>C (p.Ile68Thr)
|
|
|
NM_012282.4(KCNE5):c.203TCT[1] (p.Phe69del)
|
rs1184414342
|
|
NM_012282.4(KCNE5):c.227G>A (p.Gly76Asp)
|
|
|
NM_012282.4(KCNE5):c.24G>T (p.Arg8=)
|
rs2147334108
|
|
NM_012282.4(KCNE5):c.254G>A (p.Arg85His)
|
rs750897913
|
|
NM_012282.4(KCNE5):c.264C>T (p.Val88=)
|
|
|
NM_012282.4(KCNE5):c.265G>A (p.Glu89Lys)
|
|
|
NM_012282.4(KCNE5):c.269C>T (p.Ala90Val)
|
|
|
NM_012282.4(KCNE5):c.276_277delinsAT (p.Asp92_Glu93delinsGluTer)
|
rs2147333878
|
|
NM_012282.4(KCNE5):c.280C>T (p.Pro94Ser)
|
rs374913815
|
|
NM_012282.4(KCNE5):c.283T>C (p.Ser95Pro)
|
|
|
NM_012282.4(KCNE5):c.297_301del (p.Glu100fs)
|
rs757341707
|
|
NM_012282.4(KCNE5):c.29G>T (p.Arg10Leu)
|
|
|
NM_012282.4(KCNE5):c.315G>A (p.Pro105=)
|
rs2147333826
|
|
NM_012282.4(KCNE5):c.322G>A (p.Ala108Thr)
|
|
|
NM_012282.4(KCNE5):c.327G>C (p.Leu109=)
|
|
|
NM_012282.4(KCNE5):c.329C>A (p.Thr110Asn)
|
rs2147333805
|
|
NM_012282.4(KCNE5):c.330C>T (p.Thr110=)
|
|
|
NM_012282.4(KCNE5):c.336C>A (p.Asp112Glu)
|
rs72548778
|
|
NM_012282.4(KCNE5):c.337_338delinsAA (p.Ala113Asn)
|
rs2147333788
|
|
NM_012282.4(KCNE5):c.339C>T (p.Ala113=)
|
|
|
NM_012282.4(KCNE5):c.33C>T (p.Thr11=)
|
rs1603395902
|
|
NM_012282.4(KCNE5):c.349G>A (p.Ala117Thr)
|
rs951525284
|
|
NM_012282.4(KCNE5):c.351G>A (p.Ala117=)
|
|
|
NM_012282.4(KCNE5):c.358C>T (p.Gln120Ter)
|
|
|
NM_012282.4(KCNE5):c.371G>T (p.Arg124Leu)
|
rs2147333758
|
|
NM_012282.4(KCNE5):c.374G>A (p.Arg125His)
|
|
|
NM_012282.4(KCNE5):c.396G>C (p.Leu132=)
|
rs1196378792
|
|
NM_012282.4(KCNE5):c.397C>T (p.Pro133Ser)
|
rs776874809
|
|
NM_012282.4(KCNE5):c.44G>T (p.Arg15Leu)
|
|
|
NM_012282.4(KCNE5):c.54C>T (p.Leu18=)
|
|
|
NM_012282.4(KCNE5):c.55G>C (p.Glu19Gln)
|
rs374389286
|
|
NM_012282.4(KCNE5):c.64C>T (p.His22Tyr)
|
|
|
NM_012282.4(KCNE5):c.71G>A (p.Gly24Asp)
|
rs778650204
|
|
NM_012282.4(KCNE5):c.79A>G (p.Ser27Gly)
|
|
|
NM_012282.4(KCNE5):c.7T>A (p.Cys3Ser)
|
|
|
NM_012282.4(KCNE5):c.81C>T (p.Ser27=)
|
|
|
NM_015141.4(GPD1L):c.*1del (p.Ter352=)
|
rs2125501560
|
|
NM_015141.4(GPD1L):c.1001G>A (p.Ser334Asn)
|
rs1701139581
|
|
NM_015141.4(GPD1L):c.1008A>G (p.Pro336=)
|
|
|
NM_015141.4(GPD1L):c.1021T>G (p.Leu341Val)
|
rs1344615515
|
|
NM_015141.4(GPD1L):c.1025C>G (p.Ser342Cys)
|
rs1553663710
|
|
NM_015141.4(GPD1L):c.1027T>G (p.Cys343Gly)
|
|
|
NM_015141.4(GPD1L):c.1028G>A (p.Cys343Tyr)
|
|
|
NM_015141.4(GPD1L):c.1035G>T (p.Gln345His)
|
rs780760018
|
|
NM_015141.4(GPD1L):c.1050T>C (p.His350=)
|
|
|
NM_015141.4(GPD1L):c.1053A>G (p.Thr351=)
|
|
|
NM_015141.4(GPD1L):c.111A>G (p.Thr37=)
|
|
|
NM_015141.4(GPD1L):c.119T>G (p.Met40Arg)
|
rs1700538814
|
|
NM_015141.4(GPD1L):c.121T>A (p.Trp41Arg)
|
|
|
NM_015141.4(GPD1L):c.126C>G (p.Val42=)
|
rs2125478663
|
|
NM_015141.4(GPD1L):c.134A>C (p.Glu45Ala)
|
rs934971247
|
|
NM_015141.4(GPD1L):c.138A>T (p.Thr46=)
|
|
|
NM_015141.4(GPD1L):c.13C>T (p.Pro5Ser)
|
|
|
NM_015141.4(GPD1L):c.14C>T (p.Pro5Leu)
|
rs1156887730
|
|
NM_015141.4(GPD1L):c.156G>A (p.Leu52=)
|
|
|
NM_015141.4(GPD1L):c.15C>T (p.Pro5=)
|
rs1575103864
|
|
NM_015141.4(GPD1L):c.177C>T (p.Asp59=)
|
|
|
NM_015141.4(GPD1L):c.179A>G (p.His60Arg)
|
rs1700539904
|
|
NM_015141.4(GPD1L):c.180T>C (p.His60=)
|
rs2125478719
|
|
NM_015141.4(GPD1L):c.189A>G (p.Val63=)
|
|
|
NM_015141.4(GPD1L):c.195T>C (p.Tyr65=)
|
rs1700540170
|
|
NM_015141.4(GPD1L):c.215C>T (p.Pro72Leu)
|
rs1559573147
|
|
NM_015141.4(GPD1L):c.216A>T (p.Pro72=)
|
|
|
NM_015141.4(GPD1L):c.225+13G>A
|
|
|
NM_015141.4(GPD1L):c.225+14del
|
|
|
NM_015141.4(GPD1L):c.225+20T>A
|
|
|
NM_015141.4(GPD1L):c.226-4G>T
|
|
|
NM_015141.4(GPD1L):c.226-7G>T
|
|
|
NM_015141.4(GPD1L):c.236C>G (p.Ser79Ter)
|
rs765805642
|
|
NM_015141.4(GPD1L):c.237A>G (p.Ser79=)
|
|
|
NM_015141.4(GPD1L):c.238A>G (p.Asn80Asp)
|
rs1553659648
|
|
NM_015141.4(GPD1L):c.245G>T (p.Ser82Ile)
|
rs878855004
|
|
NM_015141.4(GPD1L):c.249G>A (p.Glu83=)
|
|
|
NM_015141.4(GPD1L):c.257A>G (p.Gln86Arg)
|
rs755240955
|
|
NM_015141.4(GPD1L):c.258G>A (p.Gln86=)
|
|
|
NM_015141.4(GPD1L):c.261_262insCTT (p.Asp87_Ala88insLeu)
|
|
|
NM_015141.4(GPD1L):c.262G>A (p.Ala88Thr)
|
rs1700699304
|
|
NM_015141.4(GPD1L):c.268C>T (p.Leu90=)
|
|
|
NM_015141.4(GPD1L):c.270G>A (p.Leu90=)
|
rs2125485191
|
|
NM_015141.4(GPD1L):c.27C>T (p.Cys9=)
|
|
|
NM_015141.4(GPD1L):c.282C>T (p.Val94=)
|
|
|
NM_015141.4(GPD1L):c.286C>T (p.Pro96Ser)
|
|
|
NM_015141.4(GPD1L):c.287C>T (p.Pro96Leu)
|
rs1700699549
|
|
NM_015141.4(GPD1L):c.288C>G (p.Pro96=)
|
|
|
NM_015141.4(GPD1L):c.293A>G (p.Gln98Arg)
|
rs745770005
|
|
NM_015141.4(GPD1L):c.298A>C (p.Ile100Leu)
|
|
|
NM_015141.4(GPD1L):c.320T>C (p.Ile107Thr)
|
rs374305150
|
|
NM_015141.4(GPD1L):c.322A>T (p.Thr108Ser)
|
|
|
NM_015141.4(GPD1L):c.333G>A (p.Val111=)
|
|
|
NM_015141.4(GPD1L):c.338A>G (p.Lys113Arg)
|
rs2125485247
|
|
NM_015141.4(GPD1L):c.345G>A (p.Ala115=)
|
rs149167213
|
|
NM_015141.4(GPD1L):c.345G>T (p.Ala115=)
|
rs149167213
|
|
NM_015141.4(GPD1L):c.359T>A (p.Leu120His)
|
|
|
NM_015141.4(GPD1L):c.366+13C>A
|
|
|
NM_015141.4(GPD1L):c.366+14A>G
|
|
|
NM_015141.4(GPD1L):c.366+7C>T
|
|
|
NM_015141.4(GPD1L):c.366+9_366+25del
|
rs776329795
|
|
NM_015141.4(GPD1L):c.367-11_367-10delinsAT
|
rs1575115586
|
|
NM_015141.4(GPD1L):c.367-4G>A
|
rs1700721746
|
|
NM_015141.4(GPD1L):c.367-5T>C
|
rs2125486240
|
|
NM_015141.4(GPD1L):c.367-9T>C
|
|
|
NM_015141.4(GPD1L):c.372A>C (p.Ile124=)
|
|
|
NM_015141.4(GPD1L):c.372A>G (p.Ile124Met)
|
rs182826539
|
|
NM_015141.4(GPD1L):c.376G>A (p.Glu126Lys)
|
rs1700722155
|
|
NM_015141.4(GPD1L):c.382C>T (p.Pro128Ser)
|
|
|
NM_015141.4(GPD1L):c.387G>C (p.Glu129Asp)
|
rs1220054300
|
|
NM_015141.4(GPD1L):c.391C>A (p.Leu131Met)
|
rs1700722701
|
|
NM_015141.4(GPD1L):c.400A>T (p.Ile134Phe)
|
|
|
NM_015141.4(GPD1L):c.40G>A (p.Gly14Arg)
|
rs1559565644
|
|
NM_015141.4(GPD1L):c.411C>A (p.Ile137=)
|
|
|
NM_015141.4(GPD1L):c.414C>G (p.Ile138Met)
|
|
|
NM_015141.4(GPD1L):c.41G>A (p.Gly14Glu)
|
rs1700170976
|
|
NM_015141.4(GPD1L):c.426G>A (p.Met142Ile)
|
|
|
NM_015141.4(GPD1L):c.428G>C (p.Gly143Ala)
|
rs989262156
|
|
NM_015141.4(GPD1L):c.44A>G (p.Asn15Ser)
|
|
|
NM_015141.4(GPD1L):c.451G>A (p.Gly151Arg)
|
|
|
NM_015141.4(GPD1L):c.47+18G>A
|
|
|
NM_015141.4(GPD1L):c.47+19G>C
|
|
|
NM_015141.4(GPD1L):c.47+9C>T
|
|
|
NM_015141.4(GPD1L):c.48-13A>G
|
|
|
NM_015141.4(GPD1L):c.48-15C>T
|
|
|
NM_015141.4(GPD1L):c.48-5T>G
|
|
|
NM_015141.4(GPD1L):c.480A>C (p.Ala160=)
|
|
|
NM_015141.4(GPD1L):c.483G>A (p.Glu161=)
|
|
|
NM_015141.4(GPD1L):c.48G>A (p.Trp16Ter)
|
|
|
NM_015141.4(GPD1L):c.491G>A (p.Cys164Tyr)
|
rs1471870007
|
|
NM_015141.4(GPD1L):c.493G>A (p.Glu165Lys)
|
|
|
NM_015141.4(GPD1L):c.501C>T (p.Thr167=)
|
|
|
NM_015141.4(GPD1L):c.501_505+8del
|
|
|
NM_015141.4(GPD1L):c.503T>C (p.Ile168Thr)
|
rs1700725665
|
|
NM_015141.4(GPD1L):c.504C>T (p.Ile168=)
|
|
|
NM_015141.4(GPD1L):c.505+15G>A
|
|
|
NM_015141.4(GPD1L):c.505+8C>G
|
|
|
NM_015141.4(GPD1L):c.506-17G>T
|
|
|
NM_015141.4(GPD1L):c.506-19T>C
|
|
|
NM_015141.4(GPD1L):c.506-9T>C
|
|
|
NM_015141.4(GPD1L):c.510C>T (p.Ser170=)
|
|
|
NM_015141.4(GPD1L):c.528C>A (p.Gly176=)
|
|
|
NM_015141.4(GPD1L):c.529C>T (p.Leu177Phe)
|
|
|
NM_015141.4(GPD1L):c.560A>G (p.Asn187Ser)
|
rs951273802
|
|
NM_015141.4(GPD1L):c.565C>T (p.Arg189Ter)
|
|
|
NM_015141.4(GPD1L):c.566G>A (p.Arg189Gln)
|
|
|
NM_015141.4(GPD1L):c.570T>C (p.Ile190=)
|
|
|
NM_015141.4(GPD1L):c.573C>T (p.Thr191=)
|
|
|
NM_015141.4(GPD1L):c.576G>A (p.Val192=)
|
rs1553660781
|
|
NM_015141.4(GPD1L):c.58G>A (p.Val20Ile)
|
|
|
NM_015141.4(GPD1L):c.590A>C (p.Asp197Ala)
|
rs1700832089
|
|
NM_015141.4(GPD1L):c.594T>C (p.Thr198=)
|
|
|
NM_015141.4(GPD1L):c.59T>C (p.Val20Ala)
|
|
|
NM_015141.4(GPD1L):c.607G>C (p.Gly203Arg)
|
|
|
NM_015141.4(GPD1L):c.608G>C (p.Gly203Ala)
|
rs1559579249
|
|
NM_015141.4(GPD1L):c.612G>A (p.Ala204=)
|
|
|
NM_015141.4(GPD1L):c.612G>T (p.Ala204=)
|
rs770011428
|
|
NM_015141.4(GPD1L):c.618+11C>T
|
|
|
NM_015141.4(GPD1L):c.618+15_618+16del
|
|
|
NM_015141.4(GPD1L):c.618+17G>C
|
rs775325609
|
|
NM_015141.4(GPD1L):c.618+19dup
|
|
|
NM_015141.4(GPD1L):c.618+8C>T
|
|
|
NM_015141.4(GPD1L):c.619-9C>A
|
rs2044880
|
|
NM_015141.4(GPD1L):c.624C>G (p.Ile208Met)
|
rs267599768
|
|
NM_015141.4(GPD1L):c.625G>A (p.Val209Ile)
|
|
|
NM_015141.4(GPD1L):c.638C>G (p.Ala213Gly)
|
|
|
NM_015141.4(GPD1L):c.648C>T (p.Cys216=)
|
|
|
NM_015141.4(GPD1L):c.653G>C (p.Gly218Ala)
|
rs148361833
|
|
NM_015141.4(GPD1L):c.675C>G (p.Thr225=)
|
|
|
NM_015141.4(GPD1L):c.679G>A (p.Ala227Thr)
|
|
|
NM_015141.4(GPD1L):c.680C>T (p.Ala227Val)
|
rs980532320
|
|
NM_015141.4(GPD1L):c.681G>A (p.Ala227=)
|
rs973664942
|
|
NM_015141.4(GPD1L):c.696G>A (p.Leu232=)
|
|
|
NM_015141.4(GPD1L):c.69A>C (p.Ile23=)
|
|
|
NM_015141.4(GPD1L):c.703A>G (p.Met235Val)
|
rs1254946428
|
|
NM_015141.4(GPD1L):c.720T>C (p.Phe240=)
|
|
|
NM_015141.4(GPD1L):c.739G>A (p.Gly247Ser)
|
rs766090919
|
|
NM_015141.4(GPD1L):c.745G>A (p.Val249Met)
|
rs148464224
|
|
NM_015141.4(GPD1L):c.745G>C (p.Val249Leu)
|
rs148464224
|
|
NM_015141.4(GPD1L):c.754G>A (p.Ala252Thr)
|
rs767832404
|
|
NM_015141.4(GPD1L):c.762C>T (p.Phe254=)
|
rs1453406813
|
|
NM_015141.4(GPD1L):c.763C>G (p.Leu255Val)
|
|
|
NM_015141.4(GPD1L):c.783C>T (p.Ala261=)
|
|
|
NM_015141.4(GPD1L):c.784G>A (p.Asp262Asn)
|
|
|
NM_015141.4(GPD1L):c.798C>T (p.Thr266=)
|
|
|
NM_015141.4(GPD1L):c.805G>A (p.Gly269Arg)
|
rs786205268
|
|
NM_015141.4(GPD1L):c.813G>A (p.Arg271=)
|
rs35464343
|
|
NM_015141.4(GPD1L):c.819C>T (p.Arg273=)
|
|
|
NM_015141.4(GPD1L):c.820A>C (p.Arg274=)
|
rs1701039817
|
|
NM_015141.4(GPD1L):c.821G>T (p.Arg274Met)
|
rs2125497965
|
|
NM_015141.4(GPD1L):c.828C>A (p.Ala276=)
|
|
|
NM_015141.4(GPD1L):c.834C>G (p.Ala278=)
|
rs1204498854
|
|
NM_015141.4(GPD1L):c.852+12C>T
|
|
|
NM_015141.4(GPD1L):c.852+14T>G
|
|
|
NM_015141.4(GPD1L):c.852+17T>C
|
|
|
NM_015141.4(GPD1L):c.852+7C>T
|
|
|
NM_015141.4(GPD1L):c.853-15T>A
|
|
|
NM_015141.4(GPD1L):c.853-19A>G
|
|
|
NM_015141.4(GPD1L):c.853-2A>G
|
rs766733448
|
|
NM_015141.4(GPD1L):c.888G>A (p.Gly296=)
|
|
|
NM_015141.4(GPD1L):c.906G>T (p.Pro302=)
|
rs200045526
|
|
NM_015141.4(GPD1L):c.917_918delinsGG (p.Ala306Gly)
|
rs1701049565
|
|
NM_015141.4(GPD1L):c.928C>A (p.Arg310Ser)
|
rs1216770303
|
|
NM_015141.4(GPD1L):c.929G>A (p.Arg310His)
|
|
|
NM_015141.4(GPD1L):c.929G>T (p.Arg310Leu)
|
|
|
NM_015141.4(GPD1L):c.959+12A>C
|
|
|
NM_015141.4(GPD1L):c.959+15C>T
|
|
|
NM_015141.4(GPD1L):c.959+20A>T
|
|
|
NM_015141.4(GPD1L):c.959+7C>A
|
rs1057523126
|
|
NM_015141.4(GPD1L):c.960-14T>C
|
|
|
NM_015141.4(GPD1L):c.960-4C>T
|
|
|
NM_015141.4(GPD1L):c.960-6A>C
|
|
|
NM_015141.4(GPD1L):c.960-8C>T
|
|
|
NM_015141.4(GPD1L):c.978A>C (p.Ala326=)
|
rs1553663699
|
|
NM_015141.4(GPD1L):c.99A>G (p.Lys33=)
|
|
|
NM_015141.4(GPD1L):c.99A>T (p.Lys33Asn)
|
|
|
NM_015141.4(GPD1L):c.9G>A (p.Ala3=)
|
|
|
NM_199037.3(SCN1B):c.749G>C (p.Arg250Thr)
|
rs67486287
|
|
NM_201590.3(CACNB2):c.12A>G (p.Arg4=)
|
rs2132070371
|
|
NM_201590.3(CACNB2):c.13C>G (p.Arg5Gly)
|
|
|
NM_201590.3(CACNB2):c.13C>T (p.Arg5Cys)
|
|
|
NM_201590.3(CACNB2):c.15C>A (p.Arg5=)
|
rs2132070434
|
|
NM_201590.3(CACNB2):c.20T>C (p.Ile7Thr)
|
rs1006602326
|
|
NM_201590.3(CACNB2):c.25C>G (p.Pro9Ala)
|
|
|
NM_201590.3(CACNB2):c.26C>T (p.Pro9Leu)
|
|
|
NM_201590.3(CACNB2):c.27T>C (p.Pro9=)
|
|
|
NM_201590.3(CACNB2):c.28C>T (p.Gln10Ter)
|
rs2041209208
|
|
NM_201590.3(CACNB2):c.43A>T (p.Ile15Phe)
|
rs2041210092
|
|
NM_201590.3(CACNB2):c.48T>C (p.Pro16=)
|
|
|
NM_201590.3(CACNB2):c.51G>A (p.Gly17=)
|
|
|
NM_201590.3(CACNB2):c.8A>G (p.Asp3Gly)
|
|
|
NM_201590.3(CACNB2):c.9C>T (p.Asp3=)
|
|
|
NM_201596.3(CACNB2):c.*34_*35insGAAGTCTTGTATAACTAACAGCATCAGTTTTGCCCGTTTGTGTTTTTTTTTTTTTTTTTT (p.Ter661=)
|
|
|
NM_201596.3(CACNB2):c.*9_*10insTTTTGTGTTTTTTTTTTTTTTTTTTTTGAAGTCTTGTATAACTAACAGCATCAGTTTTGCCC (p.Ter661=)
|
rs2133338573
|
|
NM_201596.3(CACNB2):c.1001A>G (p.Asn334Ser)
|
rs1589701386
|
|
NM_201596.3(CACNB2):c.1017C>A (p.His339Gln)
|
rs747015946
|
|
NM_201596.3(CACNB2):c.1021A>G (p.Ile341Val)
|
rs2052613832
|
|
NM_201596.3(CACNB2):c.1027G>A (p.Glu343Lys)
|
|
|
NM_201596.3(CACNB2):c.1041A>C (p.Thr347=)
|
|
|
NM_201596.3(CACNB2):c.1049G>C (p.Ser350Thr)
|
rs1348268646
|
|
NM_201596.3(CACNB2):c.1054+7C>A
|
rs4314963
|
|
NM_201596.3(CACNB2):c.1055-10C>G
|
|
|
NM_201596.3(CACNB2):c.1055-16G>A
|
|
|
NM_201596.3(CACNB2):c.1055-1G>A
|
rs2053323477
|
|
NM_201596.3(CACNB2):c.1055-20A>C
|
|
|
NM_201596.3(CACNB2):c.1055-6T>C
|
|
|
NM_201596.3(CACNB2):c.1055-7T>C
|
rs201997903
|
|
NM_201596.3(CACNB2):c.1058_1060dup (p.Glu353dup)
|
rs2053324063
|
|
NM_201596.3(CACNB2):c.1063C>T (p.Gln355Ter)
|
|
|
NM_201596.3(CACNB2):c.1074C>A (p.Ile358=)
|
|
|
NM_201596.3(CACNB2):c.1090C>T (p.Leu364Phe)
|
rs2053326547
|
|
NM_201596.3(CACNB2):c.1093G>A (p.Ala365Thr)
|
|
|
NM_201596.3(CACNB2):c.1102T>C (p.Leu368=)
|
|
|
NM_201596.3(CACNB2):c.1105C>A (p.Gln369Lys)
|
|
|
NM_201596.3(CACNB2):c.1108T>C (p.Leu370=)
|
|
|
NM_201596.3(CACNB2):c.1110G>A (p.Leu370=)
|
rs1445836944
|
|
NM_201596.3(CACNB2):c.1112T>C (p.Val371Ala)
|
|
|
NM_201596.3(CACNB2):c.1114G>A (p.Val372Ile)
|
|
|
NM_201596.3(CACNB2):c.1117C>T (p.Leu373Phe)
|
|
|
NM_201596.3(CACNB2):c.1119T>C (p.Leu373=)
|
|
|
NM_201596.3(CACNB2):c.1125G>A (p.Ala375=)
|
|
|
NM_201596.3(CACNB2):c.1125G>T (p.Ala375=)
|
|
|
NM_201596.3(CACNB2):c.1128T>C (p.Asp376=)
|
|
|
NM_201596.3(CACNB2):c.1130_1153del (p.Thr377_Leu384del)
|
|
|
NM_201596.3(CACNB2):c.1131A>G (p.Thr377=)
|
|
|
NM_201596.3(CACNB2):c.1138C>T (p.His380Tyr)
|
rs935123934
|
|
NM_201596.3(CACNB2):c.1144G>C (p.Ala382Pro)
|
rs1318411856
|
|
NM_201596.3(CACNB2):c.1150C>T (p.Leu384Phe)
|
rs2053331995
|
|
NM_201596.3(CACNB2):c.1160C>T (p.Thr387Ile)
|
|
|
NM_201596.3(CACNB2):c.1161C>A (p.Thr387=)
|
|
|
NM_201596.3(CACNB2):c.1173T>A (p.Pro391=)
|
|
|
NM_201596.3(CACNB2):c.1177A>G (p.Ile393Val)
|
|
|
NM_201596.3(CACNB2):c.1178T>G (p.Ile393Arg)
|
rs139749312
|
|
NM_201596.3(CACNB2):c.1182A>G (p.Val394=)
|
|
|
NM_201596.3(CACNB2):c.1185T>C (p.Tyr395=)
|
|
|
NM_201596.3(CACNB2):c.1197T>C (p.Ser399=)
|
|
|
NM_201596.3(CACNB2):c.1203T>C (p.Pro401=)
|
|
|
NM_201596.3(CACNB2):c.1206+17C>T
|
|
|
NM_201596.3(CACNB2):c.1206+22del
|
|
|
NM_201596.3(CACNB2):c.1206+4_1206+7dup
|
rs1456201116
|
|
NM_201596.3(CACNB2):c.1206+5G>A
|
rs2133284616
|
|
NM_201596.3(CACNB2):c.1207-18A>C
|
|
|
NM_201596.3(CACNB2):c.1207-19A>T
|
|
|
NM_201596.3(CACNB2):c.1207-3C>T
|
|
|
NM_201596.3(CACNB2):c.1207-7T>C
|
rs1589754337
|
|
NM_201596.3(CACNB2):c.1207-9C>G
|
|
|
NM_201596.3(CACNB2):c.1212A>C (p.Leu404Phe)
|
|
|
NM_201596.3(CACNB2):c.1232G>A (p.Arg411Gln)
|
rs763862968
|
|
NM_201596.3(CACNB2):c.1246G>A (p.Ala416Thr)
|
|
|
NM_201596.3(CACNB2):c.1252C>A (p.His418Asn)
|
|
|
NM_201596.3(CACNB2):c.1252C>T (p.His418Tyr)
|
|
|
NM_201596.3(CACNB2):c.1257C>T (p.Leu419=)
|
|
|
NM_201596.3(CACNB2):c.1263C>A (p.Val421=)
|
|
|
NM_201596.3(CACNB2):c.1276G>C (p.Ala426Pro)
|
|
|
NM_201596.3(CACNB2):c.1281T>C (p.Asp427=)
|
|
|
NM_201596.3(CACNB2):c.1288G>T (p.Ala430Ser)
|
rs2053550331
|
|
NM_201596.3(CACNB2):c.1290T>C (p.Ala430=)
|
|
|
NM_201596.3(CACNB2):c.1293G>C (p.Gln431His)
|
rs148414498
|
|
NM_201596.3(CACNB2):c.1296T>C (p.Cys432=)
|
|
|
NM_201596.3(CACNB2):c.1297_1298delinsGT (p.Pro433Val)
|
|
|
NM_201596.3(CACNB2):c.1300C>T (p.Pro434Ser)
|
rs2053551297
|
|
NM_201596.3(CACNB2):c.1302+11T>G
|
|
|
NM_201596.3(CACNB2):c.1302+12C>G
|
rs751318399
|
|
NM_201596.3(CACNB2):c.1302+12_1302+16dup
|
|
|
NM_201596.3(CACNB2):c.1302+13T>A
|
|
|
NM_201596.3(CACNB2):c.1302+15_1302+18del
|
rs1064795398
|
|
NM_201596.3(CACNB2):c.1302+4_1302+14dup
|
|
|
NM_201596.3(CACNB2):c.1302+7T>C
|
rs762745373
|
|
NM_201596.3(CACNB2):c.1302+8A>C
|
|
|
NM_201596.3(CACNB2):c.1302A>G (p.Pro434=)
|
rs775556040
|
|
NM_201596.3(CACNB2):c.1303-17A>T
|
|
|
NM_201596.3(CACNB2):c.1303-18G>C
|
|
|
NM_201596.3(CACNB2):c.1303-19G>A
|
rs760174810
|
|
NM_201596.3(CACNB2):c.1303-3C>T
|
|
|
NM_201596.3(CACNB2):c.1303G>C (p.Glu435Gln)
|
rs1554842171
|
|
NM_201596.3(CACNB2):c.1308G>C (p.Leu436=)
|
|
|
NM_201596.3(CACNB2):c.1312G>A (p.Asp438Asn)
|
|
|
NM_201596.3(CACNB2):c.1312G>C (p.Asp438His)
|
|
|
NM_201596.3(CACNB2):c.1314T>C (p.Asp438=)
|
rs878855310
|
|
NM_201596.3(CACNB2):c.1368T>C (p.Tyr456=)
|
|
|
NM_201596.3(CACNB2):c.1371G>A (p.Leu457=)
|
|
|
NM_201596.3(CACNB2):c.1377C>G (p.Ala459=)
|
|
|
NM_201596.3(CACNB2):c.1389C>A (p.Ala463=)
|
rs1554842250
|
|
NM_201596.3(CACNB2):c.1390A>T (p.Thr464Ser)
|
rs1589770075
|
|
NM_201596.3(CACNB2):c.1392C>G (p.Thr464=)
|
rs2133324622
|
|
NM_201596.3(CACNB2):c.1396C>G (p.Pro466Ala)
|
rs1164299168
|
|
NM_201596.3(CACNB2):c.1404C>T (p.Ser468=)
|
|
|
NM_201596.3(CACNB2):c.1432C>G (p.Arg478Gly)
|
|
|
NM_201596.3(CACNB2):c.1432C>T (p.Arg478Cys)
|
rs551742573
|
|
NM_201596.3(CACNB2):c.1434T>C (p.Arg478=)
|
|
|
NM_201596.3(CACNB2):c.1436C>A (p.Thr479Lys)
|
rs750709385
|
|
NM_201596.3(CACNB2):c.1437A>G (p.Thr479=)
|
|
|
NM_201596.3(CACNB2):c.1449A>C (p.Ser483=)
|
rs749495750
|
|
NM_201596.3(CACNB2):c.1449A>T (p.Ser483=)
|
|
|
NM_201596.3(CACNB2):c.1459C>G (p.Leu487Val)
|
rs2133325170
|
|
NM_201596.3(CACNB2):c.1461T>C (p.Leu487=)
|
|
|
NM_201596.3(CACNB2):c.1467C>T (p.Pro489=)
|
|
|
NM_201596.3(CACNB2):c.1468A>G (p.Thr490Ala)
|
|
|
NM_201596.3(CACNB2):c.1474G>C (p.Ala492Pro)
|
|
|
NM_201596.3(CACNB2):c.1476C>T (p.Ala492=)
|
rs2133325408
|
|
NM_201596.3(CACNB2):c.1479T>C (p.Ser493=)
|
|
|
NM_201596.3(CACNB2):c.1488+14T>A
|
|
|
NM_201596.3(CACNB2):c.1488+14T>G
|
rs200067825
|
|
NM_201596.3(CACNB2):c.1488+15TA[5]
|
|
|
NM_201596.3(CACNB2):c.1488+17T>C
|
|
|
NM_201596.3(CACNB2):c.1489-11T>C
|
|
|
NM_201596.3(CACNB2):c.1489-16C>T
|
|
|
NM_201596.3(CACNB2):c.1489-17G>T
|
|
|
NM_201596.3(CACNB2):c.1489-17_1489-16delinsTT
|
|
|
NM_201596.3(CACNB2):c.1489-1G>T
|
rs2133332957
|
|
NM_201596.3(CACNB2):c.1489-4C>G
|
|
|
NM_201596.3(CACNB2):c.1489-8G>C
|
rs557859826
|
|
NM_201596.3(CACNB2):c.1489G>A (p.Gly497Ser)
|
|
|
NM_201596.3(CACNB2):c.1492T>G (p.Ser498Ala)
|
rs886046884
|
|
NM_201596.3(CACNB2):c.1501G>C (p.Asp501His)
|
|
|
NM_201596.3(CACNB2):c.1503T>C (p.Asp501=)
|
|
|
NM_201596.3(CACNB2):c.1507A>C (p.Arg503=)
|
|
|
NM_201596.3(CACNB2):c.1517_1518delinsAT (p.Arg506His)
|
rs2133333288
|
|
NM_201596.3(CACNB2):c.1521C>A (p.Ser507=)
|
rs143060134
|
|
NM_201596.3(CACNB2):c.1521C>T (p.Ser507=)
|
rs143060134
|
|
NM_201596.3(CACNB2):c.1528A>G (p.Ile510Val)
|
|
|
NM_201596.3(CACNB2):c.1530C>T (p.Ile510=)
|
|
|
NM_201596.3(CACNB2):c.1531C>T (p.Arg511Cys)
|
rs764111314
|
|
NM_201596.3(CACNB2):c.1534del (p.Ser512fs)
|
rs767341738
|
|
NM_201596.3(CACNB2):c.1545A>G (p.Gln515=)
|
|
|
NM_201596.3(CACNB2):c.1551A>G (p.Glu517=)
|
|
|
NM_201596.3(CACNB2):c.1559C>T (p.Pro520Leu)
|
|
|
NM_201596.3(CACNB2):c.1562G>A (p.Ser521Asn)
|
rs1359160320
|
|
NM_201596.3(CACNB2):c.1570C>T (p.Pro524Ser)
|
rs1349921106
|
|
NM_201596.3(CACNB2):c.1571C>G (p.Pro524Arg)
|
rs1238888276
|
|
NM_201596.3(CACNB2):c.1573G>C (p.Val525Leu)
|
|
|
NM_201596.3(CACNB2):c.1574T>A (p.Val525Asp)
|
|
|
NM_201596.3(CACNB2):c.1582T>C (p.Ser528Pro)
|
rs777178427
|
|
NM_201596.3(CACNB2):c.1591C>G (p.Arg531Gly)
|
rs202152674
|
|
NM_201596.3(CACNB2):c.1602C>T (p.Ser534=)
|
|
|
NM_201596.3(CACNB2):c.1607C>G (p.Ala536Gly)
|
|
|
NM_201596.3(CACNB2):c.1612C>A (p.His538Asn)
|
|
|
NM_201596.3(CACNB2):c.1624C>G (p.Arg542Gly)
|
|
|
NM_201596.3(CACNB2):c.1624C>T (p.Arg542Cys)
|
rs750387227
|
|
NM_201596.3(CACNB2):c.1632del (p.Thr545fs)
|
|
|
NM_201596.3(CACNB2):c.1639C>A (p.Arg547Ser)
|
rs774654438
|
|
NM_201596.3(CACNB2):c.1639C>T (p.Arg547Cys)
|
rs774654438
|
|
NM_201596.3(CACNB2):c.1641C>T (p.Arg547=)
|
|
|
NM_201596.3(CACNB2):c.1657G>A (p.Glu553Lys)
|
|
|
NM_201596.3(CACNB2):c.1657G>C (p.Glu553Gln)
|
|
|
NM_201596.3(CACNB2):c.1659G>C (p.Glu553Asp)
|
|
|
NM_201596.3(CACNB2):c.1662A>T (p.Thr554=)
|
|
|
NM_201596.3(CACNB2):c.1663T>C (p.Phe555Leu)
|
rs1589778402
|
|
NM_201596.3(CACNB2):c.1665T>G (p.Phe555Leu)
|
rs878855311
|
|
NM_201596.3(CACNB2):c.1670C>G (p.Ser557Trp)
|
rs137886839
|
|
NM_201596.3(CACNB2):c.1670C>T (p.Ser557Leu)
|
rs137886839
|
|
NM_201596.3(CACNB2):c.1679A>G (p.Gln560Arg)
|
|
|
NM_201596.3(CACNB2):c.1682A>G (p.Glu561Gly)
|
rs2133335003
|
|
NM_201596.3(CACNB2):c.1683G>T (p.Glu561Asp)
|
|
|
NM_201596.3(CACNB2):c.1687C>A (p.Arg563=)
|
rs760811952
|
|
NM_201596.3(CACNB2):c.1688G>A (p.Arg563Gln)
|
rs766377211
|
|
NM_201596.3(CACNB2):c.1693T>C (p.Ser565Pro)
|
|
|
NM_201596.3(CACNB2):c.1701C>G (p.Tyr567Ter)
|
|
|
NM_201596.3(CACNB2):c.1702G>A (p.Val568Ile)
|
rs142639223
|
|
NM_201596.3(CACNB2):c.1702G>C (p.Val568Leu)
|
rs142639223
|
|
NM_201596.3(CACNB2):c.1702G>T (p.Val568Leu)
|
rs142639223
|
|
NM_201596.3(CACNB2):c.1715A>T (p.Glu572Val)
|
|
|
NM_201596.3(CACNB2):c.1718A>C (p.Asp573Ala)
|
rs773534767
|
|
NM_201596.3(CACNB2):c.1726C>T (p.His576Tyr)
|
|
|
NM_201596.3(CACNB2):c.1727_1756del (p.His576_His585del)
|
|
|
NM_201596.3(CACNB2):c.1731C>T (p.Asp577=)
|
|
|
NM_201596.3(CACNB2):c.1734C>T (p.His578=)
|
rs1209281848
|
|
NM_201596.3(CACNB2):c.1744T>C (p.Tyr582His)
|
|
|
NM_201596.3(CACNB2):c.1744_1764del (p.Tyr582_His588del)
|
rs2053933206
|
|
NM_201596.3(CACNB2):c.1748C>T (p.Ala583Val)
|
|
|
NM_201596.3(CACNB2):c.1752A>C (p.Ser584=)
|
|
|
NM_201596.3(CACNB2):c.1752A>G (p.Ser584=)
|
|
|
NM_201596.3(CACNB2):c.1753C>G (p.His585Asp)
|
|
|
NM_201596.3(CACNB2):c.1754A>G (p.His585Arg)
|
rs1412805204
|
|
NM_201596.3(CACNB2):c.1755C>T (p.His585=)
|
rs761097064
|
|
NM_201596.3(CACNB2):c.1757G>T (p.Arg586Leu)
|
rs747168096
|
|
NM_201596.3(CACNB2):c.1764C>T (p.His588=)
|
rs1280807136
|
|
NM_201596.3(CACNB2):c.1767C>G (p.Asn589Lys)
|
|
|
NM_201596.3(CACNB2):c.1767C>T (p.Asn589=)
|
|
|
NM_201596.3(CACNB2):c.1776C>G (p.Asp592Glu)
|
rs144182966
|
|
NM_201596.3(CACNB2):c.1776C>T (p.Asp592=)
|
rs144182966
|
|
NM_201596.3(CACNB2):c.1777G>A (p.Glu593Lys)
|
|
|
NM_201596.3(CACNB2):c.1782C>T (p.Thr594=)
|
|
|
NM_201596.3(CACNB2):c.1793G>C (p.Ser598Thr)
|
|
|
NM_201596.3(CACNB2):c.1806C>T (p.His602=)
|
rs1472987021
|
|
NM_201596.3(CACNB2):c.1816C>G (p.Arg606Gly)
|
rs61733968
|
|
NM_201596.3(CACNB2):c.1816C>T (p.Arg606Trp)
|
rs61733968
|
|
NM_201596.3(CACNB2):c.1817G>A (p.Arg606Gln)
|
|
|
NM_201596.3(CACNB2):c.1817G>C (p.Arg606Pro)
|
rs577739840
|
|
NM_201596.3(CACNB2):c.1818_1823del (p.His607_Arg608del)
|
rs1231423069
|
|
NM_201596.3(CACNB2):c.1822_1833dup (p.Arg608_Asp611dup)
|
rs2053942119
|
|
NM_201596.3(CACNB2):c.1823G>T (p.Arg608Leu)
|
|
|
NM_201596.3(CACNB2):c.1831G>A (p.Asp611Asn)
|
rs1239176754
|
|
NM_201596.3(CACNB2):c.1834G>A (p.Val612Met)
|
|
|
NM_201596.3(CACNB2):c.1838A>C (p.Asp613Ala)
|
|
|
NM_201596.3(CACNB2):c.1844A>C (p.Glu615Ala)
|
rs1564678668
|
|
NM_201596.3(CACNB2):c.1851C>T (p.Asp617=)
|
|
|
NM_201596.3(CACNB2):c.1851_1859dup (p.Asp617_Asn619dup)
|
rs1554843116
|
|
NM_201596.3(CACNB2):c.1855_1857del (p.Asn619del)
|
|
|
NM_201596.3(CACNB2):c.1875C>G (p.Arg625=)
|
rs2133337346
|
|
NM_201596.3(CACNB2):c.1885A>G (p.Lys629Glu)
|
rs1554843156
|
|
NM_201596.3(CACNB2):c.1890C>G (p.Ser630=)
|
|
|
NM_201596.3(CACNB2):c.1897C>T (p.Arg633Cys)
|
rs746092806
|
|
NM_201596.3(CACNB2):c.1899C>A (p.Arg633=)
|
rs2133337689
|
|
NM_201596.3(CACNB2):c.1903T>C (p.Cys635Arg)
|
rs1443093872
|
|
NM_201596.3(CACNB2):c.1910dup (p.Asp638fs)
|
rs750015594
|
|
NM_201596.3(CACNB2):c.1911G>C (p.Lys637Asn)
|
|
|
NM_201596.3(CACNB2):c.1913A>G (p.Asp638Gly)
|
rs372277783
|
|
NM_201596.3(CACNB2):c.1914T>C (p.Asp638=)
|
rs1554843214
|
|
NM_201596.3(CACNB2):c.1920_1924dup (p.Ile642delinsLysTer)
|
|
|
NM_201596.3(CACNB2):c.1922T>C (p.Val641Ala)
|
|
|
NM_201596.3(CACNB2):c.1925T>C (p.Ile642Thr)
|
rs1554843232
|
|
NM_201596.3(CACNB2):c.1927_1929dup (p.Ser643_Lys644insSer)
|
|
|
NM_201596.3(CACNB2):c.1934A>G (p.Lys645Arg)
|
|
|
NM_201596.3(CACNB2):c.1935A>G (p.Lys645=)
|
rs772752419
|
|
NM_201596.3(CACNB2):c.1937G>C (p.Arg646Pro)
|
|
|
NM_201596.3(CACNB2):c.1950G>A (p.Gly650=)
|
rs764738610
|
|
NM_201596.3(CACNB2):c.1959C>G (p.Asn653Lys)
|
rs1414134597
|
|
NM_201596.3(CACNB2):c.1960_1970dup (p.Tyr657Ter)
|
|
|
NM_201596.3(CACNB2):c.1962G>A (p.Arg654=)
|
|
|
NM_201596.3(CACNB2):c.1962G>T (p.Arg654Ser)
|
rs915270594
|
|
NM_201596.3(CACNB2):c.1964A>T (p.Asp655Val)
|
|
|
NM_201596.3(CACNB2):c.1965T>C (p.Asp655=)
|
rs58225473
|
|
NM_201596.3(CACNB2):c.1976G>A (p.Arg659His)
|
|
|
NM_201596.3(CACNB2):c.214-10T>C
|
|
|
NM_201596.3(CACNB2):c.214-15C>T
|
|
|
NM_201596.3(CACNB2):c.214-18G>A
|
rs2132535749
|
|
NM_201596.3(CACNB2):c.214-20A>G
|
|
|
NM_201596.3(CACNB2):c.214-4C>A
|
rs2132535929
|
|
NM_201596.3(CACNB2):c.214-60936G>C
|
rs778210303
|
|
NM_201596.3(CACNB2):c.214-60937C>G
|
rs753309815
|
|
NM_201596.3(CACNB2):c.214-60937C>T
|
rs753309815
|
|
NM_201596.3(CACNB2):c.214-60940A>G
|
rs2041210598
|
|
NM_201596.3(CACNB2):c.219G>C (p.Ser73=)
|
rs779134360
|
|
NM_201596.3(CACNB2):c.252C>T (p.Ser84=)
|
|
|
NM_201596.3(CACNB2):c.273C>T (p.Asp91=)
|
|
|
NM_201596.3(CACNB2):c.277G>C (p.Glu93Gln)
|
|
|
NM_201596.3(CACNB2):c.278A>C (p.Glu93Ala)
|
rs2132536672
|
|
NM_201596.3(CACNB2):c.281C>G (p.Ala94Gly)
|
|
|
NM_201596.3(CACNB2):c.288C>G (p.Arg96=)
|
|
|
NM_201596.3(CACNB2):c.290G>C (p.Arg97Thr)
|
rs1564509094
|
|
NM_201596.3(CACNB2):c.297G>C (p.Ala99=)
|
|
|
NM_201596.3(CACNB2):c.301C>A (p.Arg101=)
|
rs1357911128
|
|
NM_201596.3(CACNB2):c.305A>G (p.Gln102Arg)
|
rs1368397195
|
|
NM_201596.3(CACNB2):c.313G>A (p.Ala105Thr)
|
rs773650491
|
|
NM_201596.3(CACNB2):c.313G>C (p.Ala105Pro)
|
|
|
NM_201596.3(CACNB2):c.318G>A (p.Gln106=)
|
|
|
NM_201596.3(CACNB2):c.321G>A (p.Leu107=)
|
|
|
NM_201596.3(CACNB2):c.327A>G (p.Lys109=)
|
|
|
NM_201596.3(CACNB2):c.328G>A (p.Ala110Thr)
|
rs765424880
|
|
NM_201596.3(CACNB2):c.330A>G (p.Ala110=)
|
|
|
NM_201596.3(CACNB2):c.333+14C>T
|
|
|
NM_201596.3(CACNB2):c.333+20G>A
|
|
|
NM_201596.3(CACNB2):c.333+9G>C
|
rs752760931
|
|
NM_201596.3(CACNB2):c.334-18T>C
|
|
|
NM_201596.3(CACNB2):c.334-5T>G
|
rs2049964286
|
|
NM_201596.3(CACNB2):c.340C>T (p.Pro114Ser)
|
rs768218683
|
|
NM_201596.3(CACNB2):c.343G>A (p.Val115Ile)
|
rs747480172
|
|
NM_201596.3(CACNB2):c.347C>T (p.Ala116Val)
|
rs1423731870
|
|
NM_201596.3(CACNB2):c.354G>T (p.Ala118=)
|
rs182163363
|
|
NM_201596.3(CACNB2):c.355G>C (p.Val119Leu)
|
|
|
NM_201596.3(CACNB2):c.359G>A (p.Arg120Gln)
|
rs202220375
|
|
NM_201596.3(CACNB2):c.367G>A (p.Val123Ile)
|
rs1488807984
|
|
NM_201596.3(CACNB2):c.377G>T (p.Ser126Ile)
|
rs553297982
|
|
NM_201596.3(CACNB2):c.383C>T (p.Ala128Val)
|
rs376636577
|
|
NM_201596.3(CACNB2):c.386A>G (p.His129Arg)
|
|
|
NM_201596.3(CACNB2):c.386A>T (p.His129Leu)
|
|
|
NM_201596.3(CACNB2):c.392A>G (p.Asp131Gly)
|
rs2133011061
|
|
NM_201596.3(CACNB2):c.392ATG[3] (p.Asp132dup)
|
rs2049969382
|
|
NM_201596.3(CACNB2):c.394G>T (p.Asp132Tyr)
|
rs1317419789
|
|
NM_201596.3(CACNB2):c.400C>G (p.Pro134Ala)
|
|
|
NM_201596.3(CACNB2):c.405G>C (p.Val135=)
|
|
|
NM_201596.3(CACNB2):c.410G>C (p.Gly137Ala)
|
rs754596850
|
|
NM_201596.3(CACNB2):c.432A>G (p.Ala144=)
|
|
|
NM_201596.3(CACNB2):c.437A>G (p.Asp146Gly)
|
rs1554831392
|
|
NM_201596.3(CACNB2):c.441T>C (p.Phe147=)
|
|
|
NM_201596.3(CACNB2):c.442C>G (p.Leu148Val)
|
rs1554831400
|
|
NM_201596.3(CACNB2):c.445C>T (p.His149Tyr)
|
rs2049973374
|
|
NM_201596.3(CACNB2):c.446A>C (p.His149Pro)
|
rs2049973507
|
|
NM_201596.3(CACNB2):c.456+10A>G
|
|
|
NM_201596.3(CACNB2):c.456+14T>C
|
|
|
NM_201596.3(CACNB2):c.456+24_456+25insTTTTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTNNNNNNNNNNAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCAATAATTTCATTTTCT
|
|
|
NM_201596.3(CACNB2):c.457-17T>A
|
|
|
NM_201596.3(CACNB2):c.457-17T>G
|
rs4485000
|
|
NM_201596.3(CACNB2):c.457-20G>A
|
|
|
NM_201596.3(CACNB2):c.467A>G (p.Asn156Ser)
|
|
|
NM_201596.3(CACNB2):c.487T>C (p.Leu163=)
|
|
|
NM_201596.3(CACNB2):c.489G>A (p.Leu163=)
|
|
|
NM_201596.3(CACNB2):c.493A>G (p.Lys165Glu)
|
|
|
NM_201596.3(CACNB2):c.500G>T (p.Gly167Val)
|
|
|
NM_201596.3(CACNB2):c.524G>A (p.Ser175Asn)
|
|
|
NM_201596.3(CACNB2):c.566G>T (p.Arg189Ile)
|
|
|
NM_201596.3(CACNB2):c.567A>G (p.Arg189=)
|
|
|
NM_201596.3(CACNB2):c.570C>T (p.Ala190=)
|
|
|
NM_201596.3(CACNB2):c.585C>G (p.Phe195Leu)
|
|
|
NM_201596.3(CACNB2):c.589T>G (p.Ser197Ala)
|
|
|
NM_201596.3(CACNB2):c.593+13T>A
|
|
|
NM_201596.3(CACNB2):c.593+19G>T
|
|
|
NM_201596.3(CACNB2):c.593+4T>C
|
|
|
NM_201596.3(CACNB2):c.594-12G>A
|
|
|
NM_201596.3(CACNB2):c.594-17T>G
|
rs1214022119
|
|
NM_201596.3(CACNB2):c.594-20A>G
|
|
|
NM_201596.3(CACNB2):c.594-4C>A
|
|
|
NM_201596.3(CACNB2):c.594-4C>G
|
rs931745771
|
|
NM_201596.3(CACNB2):c.594-4C>T
|
rs931745771
|
|
NM_201596.3(CACNB2):c.594T>G (p.Ser198Arg)
|
|
|
NM_201596.3(CACNB2):c.600A>G (p.Ser200=)
|
|
|
NM_201596.3(CACNB2):c.622T>C (p.Leu208=)
|
rs538160664
|
|
NM_201596.3(CACNB2):c.622T>G (p.Leu208Val)
|
rs538160664
|
|
NM_201596.3(CACNB2):c.641G>A (p.Ser214Asn)
|
|
|
NM_201596.3(CACNB2):c.644C>A (p.Ser215Tyr)
|
|
|
NM_201596.3(CACNB2):c.645C>T (p.Ser215=)
|
rs535169510
|
|
NM_201596.3(CACNB2):c.651A>G (p.Lys217=)
|
|
|
NM_201596.3(CACNB2):c.652T>G (p.Ser218Ala)
|
rs774211226
|
|
NM_201596.3(CACNB2):c.667T>A (p.Ser223Thr)
|
rs1564629335
|
|
NM_201596.3(CACNB2):c.670+16A>G
|
|
|
NM_201596.3(CACNB2):c.670+8G>C
|
|
|
NM_201596.3(CACNB2):c.671-6A>G
|
|
|
NM_201596.3(CACNB2):c.674T>C (p.Ile225Thr)
|
rs772796787
|
|
NM_201596.3(CACNB2):c.682G>T (p.Asp228Tyr)
|
rs2133126746
|
|
NM_201596.3(CACNB2):c.689C>T (p.Thr230Ile)
|
|
|
NM_201596.3(CACNB2):c.699T>C (p.Asp233=)
|
rs886046883
|
|
NM_201596.3(CACNB2):c.710A>C (p.Asn237Thr)
|
rs1554835149
|
|
NM_201596.3(CACNB2):c.711T>C (p.Asn237=)
|
rs570005089
|
|
NM_201596.3(CACNB2):c.712G>A (p.Asp238Asn)
|
|
|
NM_201596.3(CACNB2):c.714T>C (p.Asp238=)
|
|
|
NM_201596.3(CACNB2):c.736C>G (p.Pro246Ala)
|
rs2051061080
|
|
NM_201596.3(CACNB2):c.743C>G (p.Pro248Arg)
|
|
|
NM_201596.3(CACNB2):c.744C>G (p.Pro248=)
|
|
|
NM_201596.3(CACNB2):c.768C>G (p.Pro256=)
|
|
|
NM_201596.3(CACNB2):c.786A>G (p.Arg262=)
|
|
|
NM_201596.3(CACNB2):c.799A>G (p.Lys267Glu)
|
|
|
NM_201596.3(CACNB2):c.804+15C>A
|
|
|
NM_201596.3(CACNB2):c.804+17A>G
|
|
|
NM_201596.3(CACNB2):c.804+6A>G
|
|
|
NM_201596.3(CACNB2):c.805-12C>T
|
|
|
NM_201596.3(CACNB2):c.805-15C>T
|
|
|
NM_201596.3(CACNB2):c.805-3C>A
|
rs764050459
|
|
NM_201596.3(CACNB2):c.805-6C>G
|
|
|
NM_201596.3(CACNB2):c.805-8C>G
|
rs2133159506
|
|
NM_201596.3(CACNB2):c.805-8C>T
|
|
|
NM_201596.3(CACNB2):c.805A>G (p.Thr269Ala)
|
|
|
NM_201596.3(CACNB2):c.818C>T (p.Pro273Leu)
|
rs375425461
|
|
NM_201596.3(CACNB2):c.822G>C (p.Pro274=)
|
rs199908591
|
|
NM_201596.3(CACNB2):c.827A>C (p.Asp276Ala)
|
rs889646922
|
|
NM_201596.3(CACNB2):c.831G>T (p.Val277=)
|
|
|
NM_201596.3(CACNB2):c.856C>G (p.Leu286Val)
|
|
|
NM_201596.3(CACNB2):c.859G>C (p.Val287Leu)
|
rs1217728234
|
|
NM_201596.3(CACNB2):c.879C>T (p.Gly293=)
|
|
|
NM_201596.3(CACNB2):c.882C>T (p.Tyr294=)
|
|
|
NM_201596.3(CACNB2):c.885+10A>T
|
|
|
NM_201596.3(CACNB2):c.885+20A>T
|
|
|
NM_201596.3(CACNB2):c.885+3G>A
|
|
|
NM_201596.3(CACNB2):c.885+4G>A
|
|
|
NM_201596.3(CACNB2):c.886-19A>C
|
|
|
NM_201596.3(CACNB2):c.886-19_886-17del
|
|
|
NM_201596.3(CACNB2):c.886-7A>T
|
rs2051550063
|
|
NM_201596.3(CACNB2):c.895ATG[1] (p.Met300del)
|
rs2051551471
|
|
NM_201596.3(CACNB2):c.899T>A (p.Met300Lys)
|
rs1564644091
|
|
NM_201596.3(CACNB2):c.903A>G (p.Gln301=)
|
|
|
NM_201596.3(CACNB2):c.910C>G (p.Leu304Val)
|
|
|
NM_201596.3(CACNB2):c.912G>A (p.Leu304=)
|
rs1246608729
|
|
NM_201596.3(CACNB2):c.940G>A (p.Gly314Arg)
|
|
|
NM_201596.3(CACNB2):c.943C>T (p.Arg315Trp)
|
|
|
NM_201596.3(CACNB2):c.944+11C>A
|
|
|
NM_201596.3(CACNB2):c.944+12A>C
|
|
|
NM_201596.3(CACNB2):c.944+12A>G
|
rs144304963
|
|
NM_201596.3(CACNB2):c.944+12A>T
|
rs144304963
|
|
NM_201596.3(CACNB2):c.944+15A>T
|
|
|
NM_201596.3(CACNB2):c.944+3_944+6del
|
|
|
NM_201596.3(CACNB2):c.945-12T>C
|
|
|
NM_201596.3(CACNB2):c.964A>T (p.Thr322Ser)
|
rs2052608666
|
|
NM_201596.3(CACNB2):c.967G>T (p.Ala323Ser)
|
rs561197163
|
|
NM_201596.3(CACNB2):c.972C>G (p.Asp324Glu)
|
|
|
NM_201596.3(CACNB2):c.975C>A (p.Ile325=)
|
|
|
NM_201596.3(CACNB2):c.992C>T (p.Ser331Leu)
|
|
|