NM_000069.3(CACNA1S):c.1828-5T>C
|
rs1998721
|
0.71016
|
NM_000891.3(KCNJ2):c.-163_-162insTC
|
rs61077847
|
0.02248
|
NM_000891.3(KCNJ2):c.-162_-161insGAGTAGT
|
rs58144126
|
0.02246
|
NM_000334.4(SCN4A):c.*1677_*1678insAT
|
rs397797581
|
0.01652
|
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met)
|
rs80338952
|
0.01562
|
NM_000334.4(SCN4A):c.2717G>C (p.Ser906Thr)
|
rs41280102
|
0.01003
|
NM_000069.3(CACNA1S):c.1817G>A (p.Ser606Asn)
|
rs142356235
|
0.00873
|
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile)
|
rs62070884
|
0.00873
|
NM_000069.3(CACNA1S):c.895T>C (p.Tyr299His)
|
rs35856559
|
0.00797
|
NM_000334.4(SCN4A):c.1606+20G>A
|
rs73326363
|
0.00787
|
NM_000334.4(SCN4A):c.3720+9G>T
|
rs9303466
|
0.00769
|
NM_000069.3(CACNA1S):c.4668+19T>C
|
rs140742077
|
0.00573
|
NM_000069.3(CACNA1S):c.-68T>C
|
rs140748567
|
0.00558
|
NM_000069.3(CACNA1S):c.252C>T (p.Leu84=)
|
rs112868209
|
0.00555
|
NM_000069.3(CACNA1S):c.2745+14C>T
|
rs74138824
|
0.00464
|
NM_000069.3(CACNA1S):c.3953+7G>A
|
rs141071505
|
0.00409
|
NM_000069.3(CACNA1S):c.-60A>G
|
rs145803564
|
0.00349
|
NM_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser)
|
rs145910245
|
0.00349
|
NM_000334.4(SCN4A):c.5190C>T (p.Cys1730=)
|
rs113277954
|
0.00347
|
NM_000334.4(SCN4A):c.1796A>G (p.His599Arg)
|
rs187401185
|
0.00343
|
NM_000334.4(SCN4A):c.*1324T>C
|
rs544883913
|
0.00256
|
NM_000069.3(CACNA1S):c.5515C>T (p.Pro1839Ser)
|
rs149547196
|
0.00241
|
NM_000334.4(SCN4A):c.355G>A (p.Val119Ile)
|
rs41280110
|
0.00232
|
NM_000069.3(CACNA1S):c.1711G>A (p.Val571Ile)
|
rs114191482
|
0.00228
|
NM_000069.3(CACNA1S):c.5570G>A (p.Ser1857Asn)
|
rs72749169
|
0.00210
|
NM_000334.4(SCN4A):c.1453-4A>G
|
rs111818485
|
0.00209
|
NM_000069.3(CACNA1S):c.4686T>C (p.Ile1562=)
|
rs138423302
|
0.00170
|
NM_000334.4(SCN4A):c.3774+7C>T
|
rs199659791
|
0.00149
|
NM_000069.3(CACNA1S):c.2440G>A (p.Ala814Thr)
|
rs139956524
|
0.00135
|
NM_000334.4(SCN4A):c.2623C>T (p.Pro875Ser)
|
rs201148948
|
0.00134
|
NM_000069.3(CACNA1S):c.5371-19C>T
|
rs201064986
|
0.00121
|
NM_000069.3(CACNA1S):c.3795+3G>A
|
rs191758096
|
0.00113
|
NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile)
|
rs202106192
|
0.00108
|
NM_000069.3(CACNA1S):c.165G>A (p.Thr55=)
|
rs150520884
|
0.00100
|
NM_000069.3(CACNA1S):c.1452C>T (p.Tyr484=)
|
rs144206959
|
0.00097
|
NM_000069.3(CACNA1S):c.900+14C>T
|
rs377170574
|
0.00093
|
NM_000069.3(CACNA1S):c.2601C>T (p.Tyr867=)
|
rs34374418
|
0.00076
|
NM_000069.3(CACNA1S):c.4114-8T>C
|
rs373675720
|
0.00076
|
NM_000069.3(CACNA1S):c.4338+13G>T
|
rs370782181
|
0.00075
|
NM_000069.3(CACNA1S):c.3425A>C (p.Gln1142Pro)
|
rs139373152
|
0.00073
|
NM_000069.3(CACNA1S):c.5087C>T (p.Thr1696Met)
|
rs367577681
|
0.00070
|
NM_000334.4(SCN4A):c.1576G>A (p.Gly526Arg)
|
rs181292216
|
0.00069
|
NM_000069.3(CACNA1S):c.2430G>C (p.Leu810=)
|
rs146230812
|
0.00062
|
NM_000334.4(SCN4A):c.235C>T (p.Pro79Ser)
|
rs376505442
|
0.00062
|
NM_000069.3(CACNA1S):c.3796-11C>T
|
rs369565379
|
0.00061
|
NM_000069.3(CACNA1S):c.1948+10C>G
|
rs201173419
|
0.00059
|
NM_000334.4(SCN4A):c.1462G>A (p.Ala488Thr)
|
rs185941768
|
0.00059
|
NM_000334.4(SCN4A):c.952T>C (p.Trp318Arg)
|
rs199676994
|
0.00059
|
NM_000334.4(SCN4A):c.2188G>A (p.Val730Met)
|
rs113462659
|
0.00058
|
NM_000334.4(SCN4A):c.999C>T (p.Asn333=)
|
rs149726115
|
0.00056
|
NM_000069.3(CACNA1S):c.345C>T (p.Asp115=)
|
rs144218745
|
0.00054
|
NM_000069.3(CACNA1S):c.3628G>A (p.Gly1210Arg)
|
rs148870919
|
0.00053
|
NM_000069.3(CACNA1S):c.4339-14G>A
|
rs200570483
|
0.00051
|
NM_000069.3(CACNA1S):c.-4A>G
|
rs200408018
|
0.00050
|
NM_000069.3(CACNA1S):c.1112C>T (p.Thr371Met)
|
rs150954040
|
0.00049
|
NM_000334.4(SCN4A):c.3001C>T (p.Arg1001Cys)
|
rs199713025
|
0.00048
|
NM_000334.4(SCN4A):c.2697G>A (p.Leu899=)
|
rs199827271
|
0.00044
|
NM_000334.4(SCN4A):c.951A>G (p.Ser317=)
|
rs185246154
|
0.00044
|
NM_000334.4(SCN4A):c.5424G>A (p.Met1808Ile)
|
rs201375413
|
0.00042
|
NM_000891.3(KCNJ2):c.1200G>A (p.Thr400=)
|
rs201253055
|
0.00042
|
NM_000891.3(KCNJ2):c.1229A>G (p.Asn410Ser)
|
rs141069645
|
0.00042
|
NM_000069.3(CACNA1S):c.*104T>C
|
rs186777514
|
0.00041
|
NM_000069.3(CACNA1S):c.4521C>T (p.Asp1507=)
|
rs150962971
|
0.00038
|
NM_000334.4(SCN4A):c.3429C>T (p.Phe1143=)
|
rs373597946
|
0.00038
|
NM_000334.4(SCN4A):c.1607-17T>C
|
rs202103551
|
0.00032
|
NM_000069.3(CACNA1S):c.1948+18G>A
|
rs113175669
|
0.00031
|
NM_000069.3(CACNA1S):c.2957G>A (p.Arg986His)
|
rs140453525
|
0.00031
|
NM_000069.3(CACNA1S):c.2361-11C>T
|
rs376279583
|
0.00030
|
NM_000334.4(SCN4A):c.2200G>T (p.Ala734Ser)
|
rs199651516
|
0.00030
|
NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu)
|
rs141204958
|
0.00029
|
NM_000334.4(SCN4A):c.1845+7A>C
|
rs141021600
|
0.00028
|
NM_000069.3(CACNA1S):c.4987A>G (p.Asn1663Asp)
|
rs141618437
|
0.00027
|
NM_000334.4(SCN4A):c.1623C>G (p.His541Gln)
|
rs538390338
|
0.00027
|
NM_000334.4(SCN4A):c.436G>A (p.Val146Ile)
|
rs367988986
|
0.00027
|
NM_000334.4(SCN4A):c.5181G>A (p.Glu1727=)
|
rs368263333
|
0.00027
|
NM_000069.3(CACNA1S):c.*163G>A
|
rs200126670
|
0.00026
|
NM_000069.3(CACNA1S):c.324C>T (p.Tyr108=)
|
rs200487405
|
0.00026
|
NM_000069.3(CACNA1S):c.4747G>A (p.Glu1583Lys)
|
rs148273582
|
0.00026
|
NM_000334.4(SCN4A):c.1242+15A>C
|
rs750532418
|
0.00026
|
NM_000334.4(SCN4A):c.1653C>T (p.Cys551=)
|
rs201199086
|
0.00026
|
NM_000334.4(SCN4A):c.2955C>T (p.Pro985=)
|
rs375621334
|
0.00026
|
NM_000334.4(SCN4A):c.2995G>A (p.Val999Met)
|
rs377277110
|
0.00026
|
NM_000069.3(CACNA1S):c.2657+9C>T
|
rs375784883
|
0.00025
|
NM_000069.3(CACNA1S):c.4972C>T (p.Arg1658Cys)
|
rs147392278
|
0.00024
|
NM_000334.4(SCN4A):c.1101-16C>T
|
rs376459843
|
0.00024
|
NM_000069.3(CACNA1S):c.3616C>T (p.Leu1206=)
|
rs148105111
|
0.00023
|
NM_000069.3(CACNA1S):c.1670G>A (p.Arg557His)
|
rs4915212
|
0.00022
|
NM_000069.3(CACNA1S):c.1890G>A (p.Pro630=)
|
rs141717649
|
0.00022
|
NM_000069.3(CACNA1S):c.2657+10G>A
|
rs371339601
|
0.00022
|
NM_000069.3(CACNA1S):c.1949-7C>T
|
rs368564115
|
0.00021
|
NM_000069.3(CACNA1S):c.5510A>C (p.Glu1837Ala)
|
rs200765341
|
0.00021
|
NM_000334.4(SCN4A):c.2649C>T (p.Pro883=)
|
rs368024629
|
0.00021
|
NM_000069.3(CACNA1S):c.3256-12T>A
|
rs374335683
|
0.00019
|
NM_000069.3(CACNA1S):c.3334T>G (p.Trp1112Gly)
|
rs151218760
|
0.00019
|
NM_000334.4(SCN4A):c.1281C>T (p.Phe427=)
|
rs369445518
|
0.00019
|
NM_000334.4(SCN4A):c.5037C>T (p.Ile1679=)
|
rs372002602
|
0.00019
|
NM_000069.3(CACNA1S):c.1745G>C (p.Gly582Ala)
|
rs377459546
|
0.00018
|
NM_000334.4(SCN4A):c.3285C>T (p.Asn1095=)
|
rs371401377
|
0.00018
|
NM_000069.3(CACNA1S):c.2100G>A (p.Thr700=)
|
rs774160640
|
0.00017
|
NM_000069.3(CACNA1S):c.4883T>C (p.Leu1628Pro)
|
rs576536458
|
0.00017
|
NM_000334.4(SCN4A):c.3318+20C>G
|
rs368263593
|
0.00017
|
NM_000334.4(SCN4A):c.3360G>A (p.Ser1120=)
|
rs377187913
|
0.00017
|
NM_000069.3(CACNA1S):c.1143C>T (p.Phe381=)
|
rs144883479
|
0.00016
|
NM_000069.3(CACNA1S):c.1458G>A (p.Leu486=)
|
rs528563981
|
0.00016
|
NM_000069.3(CACNA1S):c.1777C>T (p.Arg593Trp)
|
rs138541733
|
0.00016
|
NM_000069.3(CACNA1S):c.2099C>T (p.Thr700Met)
|
rs147112322
|
0.00016
|
NM_000069.3(CACNA1S):c.3777G>A (p.Thr1259=)
|
rs147646714
|
0.00016
|
NM_000069.3(CACNA1S):c.4026G>A (p.Ser1342=)
|
rs757432785
|
0.00016
|
NM_000069.3(CACNA1S):c.1903A>G (p.Met635Val)
|
rs201784750
|
0.00015
|
NM_000069.3(CACNA1S):c.2853+16C>T
|
rs374793204
|
0.00015
|
NM_000069.3(CACNA1S):c.4377C>T (p.Gly1459=)
|
rs138189035
|
0.00015
|
NM_000334.4(SCN4A):c.5472G>A (p.Gly1824=)
|
rs576801452
|
0.00015
|
NM_000069.3(CACNA1S):c.3287G>A (p.Arg1096His)
|
rs142102094
|
0.00014
|
NM_000334.4(SCN4A):c.552C>T (p.Asp184=)
|
rs370730079
|
0.00014
|
NM_000891.3(KCNJ2):c.174C>T (p.Phe58=)
|
rs587781006
|
0.00014
|
NM_000069.3(CACNA1S):c.1945A>C (p.Asn649His)
|
rs760246258
|
0.00013
|
NM_000069.3(CACNA1S):c.2658-9G>A
|
rs367580345
|
0.00013
|
NM_000069.3(CACNA1S):c.4176C>G (p.Ser1392=)
|
rs200935259
|
0.00013
|
NM_000069.3(CACNA1S):c.4954C>T (p.Arg1652Cys)
|
rs143933255
|
0.00013
|
NM_000069.3(CACNA1S):c.5008T>A (p.Tyr1670Asn)
|
rs146696748
|
0.00013
|
NM_000069.3(CACNA1S):c.789C>A (p.Gly263=)
|
rs368173398
|
0.00013
|
NM_000069.3(CACNA1S):c.93G>C (p.Leu31Phe)
|
rs556751671
|
0.00013
|
NM_000891.3(KCNJ2):c.-2C>T
|
rs144760658
|
0.00013
|
NM_000069.3(CACNA1S):c.1948+13G>C
|
rs538625530
|
0.00012
|
NM_000069.3(CACNA1S):c.2418G>A (p.Leu806=)
|
rs182634146
|
0.00012
|
NM_000069.3(CACNA1S):c.2906+10G>T
|
rs748231032
|
0.00012
|
NM_000069.3(CACNA1S):c.4916A>T (p.Glu1639Val)
|
rs146885451
|
0.00012
|
NM_000069.3(CACNA1S):c.4995C>T (p.Asn1665=)
|
rs183440052
|
0.00012
|
NM_000069.3(CACNA1S):c.1818C>T (p.Ser606=)
|
rs34025878
|
0.00011
|
NM_000069.3(CACNA1S):c.2296C>A (p.Leu766Met)
|
rs771865391
|
0.00011
|
NM_000069.3(CACNA1S):c.2960A>G (p.His987Arg)
|
rs201174511
|
0.00011
|
NM_000069.3(CACNA1S):c.3190G>A (p.Val1064Ile)
|
rs138837077
|
0.00011
|
NM_000069.3(CACNA1S):c.3415-13G>T
|
rs755431424
|
0.00011
|
NM_000069.3(CACNA1S):c.4639C>T (p.Arg1547Trp)
|
rs757433005
|
0.00011
|
NM_000069.3(CACNA1S):c.4996G>A (p.Ala1666Thr)
|
rs145340252
|
0.00011
|
NM_000069.3(CACNA1S):c.5227-20C>T
|
rs377205612
|
0.00011
|
NM_000069.3(CACNA1S):c.900+17G>A
|
rs373839474
|
0.00011
|
NM_000069.3(CACNA1S):c.951C>T (p.Leu317=)
|
rs773209639
|
0.00011
|
NM_000334.4(SCN4A):c.1018G>A (p.Ala340Thr)
|
rs147936148
|
0.00011
|
NM_000334.4(SCN4A):c.1288A>G (p.Ile430Val)
|
rs149907018
|
0.00011
|
NM_000334.4(SCN4A):c.3774+20A>G
|
rs377552760
|
0.00011
|
NM_000334.4(SCN4A):c.4083C>A (p.Ile1361=)
|
rs374480468
|
0.00011
|
NM_000891.3(KCNJ2):c.132G>A (p.Arg44=)
|
rs551369705
|
0.00011
|
NM_000891.3(KCNJ2):c.168T>C (p.Val56=)
|
rs370111593
|
0.00011
|
NM_000069.3(CACNA1S):c.1325T>C (p.Val442Ala)
|
rs202217590
|
0.00010
|
NM_000069.3(CACNA1S):c.1949-6G>A
|
rs373698107
|
0.00010
|
NM_000069.3(CACNA1S):c.2520C>T (p.Thr840=)
|
rs147076871
|
0.00010
|
NM_000069.3(CACNA1S):c.2555C>T (p.Thr852Met)
|
rs200334886
|
0.00010
|
NM_000069.3(CACNA1S):c.2963G>A (p.Arg988His)
|
rs747618077
|
0.00010
|
NM_000069.3(CACNA1S):c.4718C>T (p.Thr1573Met)
|
rs183195890
|
0.00010
|
NM_000069.3(CACNA1S):c.5299C>A (p.Pro1767Thr)
|
rs200434921
|
0.00010
|
NM_000069.3(CACNA1S):c.5554G>A (p.Gly1852Arg)
|
rs540721779
|
0.00010
|
NM_000069.3(CACNA1S):c.984G>T (p.Leu328=)
|
rs367685667
|
0.00010
|
NM_000334.4(SCN4A):c.1607-20T>C
|
rs374159735
|
0.00010
|
NM_000334.4(SCN4A):c.4410G>A (p.Thr1470=)
|
rs534861830
|
0.00010
|
NM_000334.4(SCN4A):c.4644C>T (p.Ser1548=)
|
rs751973449
|
0.00010
|
NM_000334.4(SCN4A):c.5401G>A (p.Ala1801Thr)
|
rs201192904
|
0.00010
|
NM_000334.4(SCN4A):c.5468C>G (p.Pro1823Arg)
|
rs376833596
|
0.00010
|
NM_000891.3(KCNJ2):c.867C>T (p.Asn289=)
|
rs201909993
|
0.00010
|
NM_000069.3(CACNA1S):c.1151-18T>C
|
rs112628416
|
0.00009
|
NM_000069.3(CACNA1S):c.1592G>A (p.Arg531His)
|
rs748711395
|
0.00009
|
NM_000069.3(CACNA1S):c.1881C>T (p.Tyr627=)
|
rs145689664
|
0.00009
|
NM_000069.3(CACNA1S):c.1935C>T (p.Phe645=)
|
rs550584336
|
0.00009
|
NM_000069.3(CACNA1S):c.3126C>A (p.Ala1042=)
|
rs748848750
|
0.00009
|
NM_000069.3(CACNA1S):c.3525+7del
|
rs759199210
|
0.00009
|
NM_000069.3(CACNA1S):c.3657C>T (p.Cys1219=)
|
rs376781102
|
0.00009
|
NM_000069.3(CACNA1S):c.3664G>A (p.Val1222Ile)
|
rs202240111
|
0.00009
|
NM_000069.3(CACNA1S):c.3904C>T (p.Arg1302Trp)
|
rs780390034
|
0.00009
|
NM_000069.3(CACNA1S):c.888C>T (p.Asp296=)
|
rs775610804
|
0.00009
|
NM_000334.4(SCN4A):c.1120G>A (p.Glu374Lys)
|
rs766463226
|
0.00009
|
NM_000334.4(SCN4A):c.1935C>T (p.Phe645=)
|
rs181494727
|
0.00009
|
NM_000334.4(SCN4A):c.2130C>T (p.Ile710=)
|
rs776552053
|
0.00009
|
NM_000334.4(SCN4A):c.2220G>A (p.Pro740=)
|
rs368278422
|
0.00009
|
NM_000334.4(SCN4A):c.2340C>T (p.Thr780=)
|
rs375349902
|
0.00009
|
NM_000334.4(SCN4A):c.2421C>T (p.Ala807=)
|
rs540328974
|
0.00009
|
NM_000334.4(SCN4A):c.2646G>A (p.Pro882=)
|
rs538173069
|
0.00009
|
NM_000334.4(SCN4A):c.3136G>T (p.Gly1046Trp)
|
rs759982229
|
0.00009
|
NM_000334.4(SCN4A):c.4282A>G (p.Ile1428Val)
|
rs368822028
|
0.00009
|
NM_000334.4(SCN4A):c.4886C>T (p.Pro1629Leu)
|
rs202102815
|
0.00009
|
NM_000891.3(KCNJ2):c.327C>T (p.Leu109=)
|
rs140274795
|
0.00009
|
NM_000891.3(KCNJ2):c.60G>A (p.Lys20=)
|
rs768120590
|
0.00009
|
NM_000069.3(CACNA1S):c.2145C>T (p.Pro715=)
|
rs532432558
|
0.00008
|
NM_000069.3(CACNA1S):c.2361-10G>A
|
rs533238983
|
0.00008
|
NM_000069.3(CACNA1S):c.2628G>T (p.Val876=)
|
rs200898535
|
0.00008
|
NM_000069.3(CACNA1S):c.4194C>T (p.His1398=)
|
rs368919048
|
0.00008
|
NM_000069.3(CACNA1S):c.4679G>A (p.Arg1560Gln)
|
rs372436488
|
0.00008
|
NM_000069.3(CACNA1S):c.4962C>T (p.Asn1654=)
|
rs370339547
|
0.00008
|
NM_000334.4(SCN4A):c.1845+12del
|
rs756462178
|
0.00008
|
NM_000334.4(SCN4A):c.2685C>T (p.Asn895=)
|
rs760183656
|
0.00008
|
NM_000334.4(SCN4A):c.4602G>A (p.Thr1534=)
|
rs186181122
|
0.00008
|
NM_000069.3(CACNA1S):c.1324G>A (p.Val442Ile)
|
rs572977674
|
0.00007
|
NM_000069.3(CACNA1S):c.1619+9C>T
|
rs372942667
|
0.00007
|
NM_000069.3(CACNA1S):c.3027G>A (p.Thr1009=)
|
rs371818752
|
0.00007
|
NM_000069.3(CACNA1S):c.3143A>G (p.Tyr1048Cys)
|
rs745571736
|
0.00007
|
NM_000069.3(CACNA1S):c.3429G>A (p.Ser1143=)
|
rs373033092
|
0.00007
|
NM_000069.3(CACNA1S):c.3454A>G (p.Ile1152Val)
|
rs142286187
|
0.00007
|
NM_000069.3(CACNA1S):c.3796-14C>T
|
rs377210987
|
0.00007
|
NM_000069.3(CACNA1S):c.5592C>T (p.Ser1864=)
|
rs751405561
|
0.00007
|
NM_000069.3(CACNA1S):c.700G>A (p.Val234Met)
|
rs370661912
|
0.00007
|
NM_000334.4(SCN4A):c.2295C>A (p.Thr765=)
|
rs370434474
|
0.00007
|
NM_000334.4(SCN4A):c.238C>T (p.Leu80=)
|
rs768080216
|
0.00007
|
NM_000334.4(SCN4A):c.483-8C>T
|
rs566047339
|
0.00007
|
NM_000334.4(SCN4A):c.5404G>A (p.Gly1802Arg)
|
rs267604988
|
0.00007
|
NM_000891.3(KCNJ2):c.1080C>T (p.Asp360=)
|
rs66476803
|
0.00007
|
NM_000069.3(CACNA1S):c.1345A>G (p.Ile449Val)
|
rs369139165
|
0.00006
|
NM_000069.3(CACNA1S):c.1385G>A (p.Arg462His)
|
rs146696298
|
0.00006
|
NM_000069.3(CACNA1S):c.1393+16G>A
|
rs374866886
|
0.00006
|
NM_000069.3(CACNA1S):c.1619+10G>A
|
rs374195664
|
0.00006
|
NM_000069.3(CACNA1S):c.1704C>A (p.Leu568=)
|
rs201748367
|
0.00006
|
NM_000069.3(CACNA1S):c.1740C>T (p.Leu580=)
|
rs749654014
|
0.00006
|
NM_000069.3(CACNA1S):c.1815C>T (p.Ile605=)
|
rs757733492
|
0.00006
|
NM_000069.3(CACNA1S):c.1819G>A (p.Val607Ile)
|
rs377461013
|
0.00006
|
NM_000069.3(CACNA1S):c.1885G>A (p.Gly629Arg)
|
rs147888089
|
0.00006
|
NM_000069.3(CACNA1S):c.1904T>C (p.Met635Thr)
|
rs144590408
|
0.00006
|
NM_000069.3(CACNA1S):c.2001G>A (p.Ala667=)
|
rs61734612
|
0.00006
|
NM_000069.3(CACNA1S):c.208G>A (p.Val70Met)
|
rs771706267
|
0.00006
|
NM_000069.3(CACNA1S):c.2376T>C (p.Cys792=)
|
rs528604695
|
0.00006
|
NM_000069.3(CACNA1S):c.2491-20C>T
|
rs200340608
|
0.00006
|
NM_000069.3(CACNA1S):c.2630C>T (p.Ala877Val)
|
rs200646947
|
0.00006
|
NM_000069.3(CACNA1S):c.2729G>A (p.Arg910Lys)
|
rs375318710
|
0.00006
|
NM_000069.3(CACNA1S):c.2773A>G (p.Ile925Val)
|
rs138708497
|
0.00006
|
NM_000069.3(CACNA1S):c.3210G>A (p.Glu1070=)
|
rs200893062
|
0.00006
|
NM_000069.3(CACNA1S):c.3606C>T (p.Ile1202=)
|
rs189797100
|
0.00006
|
NM_000069.3(CACNA1S):c.3796-13G>A
|
rs374572342
|
0.00006
|
NM_000069.3(CACNA1S):c.3843C>T (p.Tyr1281=)
|
rs371582901
|
0.00006
|
NM_000069.3(CACNA1S):c.3953+16C>T
|
rs201874906
|
0.00006
|
NM_000069.3(CACNA1S):c.4414C>T (p.Arg1472Cys)
|
rs201257304
|
0.00006
|
NM_000069.3(CACNA1S):c.4669-11G>A
|
rs376672151
|
0.00006
|
NM_000069.3(CACNA1S):c.4731C>G (p.Asp1577Glu)
|
rs202120583
|
0.00006
|
NM_000069.3(CACNA1S):c.4752G>A (p.Leu1584=)
|
rs763069723
|
0.00006
|
NM_000069.3(CACNA1S):c.4861G>A (p.Val1621Ile)
|
rs756066219
|
0.00006
|
NM_000069.3(CACNA1S):c.5048+9G>A
|
rs375072747
|
0.00006
|
NM_000069.3(CACNA1S):c.516C>T (p.Pro172=)
|
rs779274568
|
0.00006
|
NM_000069.3(CACNA1S):c.834C>T (p.Phe278=)
|
rs148625301
|
0.00006
|
NM_000069.3(CACNA1S):c.900+16C>T
|
rs372464425
|
0.00006
|
NM_000334.4(SCN4A):c.-4G>A
|
rs565414568
|
0.00006
|
NM_000334.4(SCN4A):c.1173C>T (p.Thr391=)
|
rs376062556
|
0.00006
|
NM_000334.4(SCN4A):c.1354G>A (p.Glu452Lys)
|
rs372631097
|
0.00006
|
NM_000334.4(SCN4A):c.1902C>T (p.Pro634=)
|
rs368811155
|
0.00006
|
NM_000334.4(SCN4A):c.2448T>C (p.Asp816=)
|
rs150307926
|
0.00006
|
NM_000334.4(SCN4A):c.2610G>A (p.Ala870=)
|
rs375918619
|
0.00006
|
NM_000334.4(SCN4A):c.3018C>T (p.Tyr1006=)
|
rs755880799
|
0.00006
|
NM_000334.4(SCN4A):c.3027C>T (p.Ile1009=)
|
rs750690287
|
0.00006
|
NM_000334.4(SCN4A):c.45G>A (p.Glu15=)
|
rs763166498
|
0.00006
|
NM_000334.4(SCN4A):c.4680G>A (p.Pro1560=)
|
rs370207597
|
0.00006
|
NM_000334.4(SCN4A):c.4719C>T (p.Ile1573=)
|
rs562551941
|
0.00006
|
NM_000334.4(SCN4A):c.5436C>A (p.Pro1812=)
|
rs377620682
|
0.00006
|
NM_000891.3(KCNJ2):c.366T>C (p.Cys122=)
|
rs748924113
|
0.00006
|
NM_000891.3(KCNJ2):c.51C>T (p.Asp17=)
|
rs141965142
|
0.00006
|
NM_000069.3(CACNA1S):c.1091G>A (p.Arg364Gln)
|
rs763360081
|
0.00005
|
NM_000069.3(CACNA1S):c.1314G>A (p.Val438=)
|
rs146400205
|
0.00005
|
NM_000069.3(CACNA1S):c.1352C>T (p.Ser451Leu)
|
rs35521793
|
0.00005
|
NM_000069.3(CACNA1S):c.1619+16G>A
|
rs148454228
|
0.00005
|
NM_000069.3(CACNA1S):c.1852T>G (p.Ser618Ala)
|
rs149195094
|
0.00005
|
NM_000069.3(CACNA1S):c.2439C>T (p.Ser813=)
|
rs376863448
|
0.00005
|
NM_000069.3(CACNA1S):c.2726A>G (p.Asn909Ser)
|
rs139935847
|
0.00005
|
NM_000069.3(CACNA1S):c.2877C>T (p.Asp959=)
|
rs138328785
|
0.00005
|
NM_000069.3(CACNA1S):c.2974C>G (p.His992Asp)
|
rs527520015
|
0.00005
|
NM_000069.3(CACNA1S):c.3982A>G (p.Ile1328Val)
|
rs777426409
|
0.00005
|
NM_000069.3(CACNA1S):c.4170C>G (p.Asp1390Glu)
|
rs371849585
|
0.00005
|
NM_000069.3(CACNA1S):c.4572C>T (p.Tyr1524=)
|
rs765581827
|
0.00005
|
NM_000069.3(CACNA1S):c.852C>T (p.Thr284=)
|
rs372633174
|
0.00005
|
NM_000069.3(CACNA1S):c.909T>C (p.Asp303=)
|
rs760398733
|
0.00005
|
NM_000334.4(SCN4A):c.1461C>T (p.Ala487=)
|
rs541858248
|
0.00005
|
NM_000334.4(SCN4A):c.1710C>T (p.Ile570=)
|
rs760067411
|
0.00005
|
NM_000334.4(SCN4A):c.2721C>T (p.Leu907=)
|
rs376432808
|
0.00005
|
NM_000334.4(SCN4A):c.459G>A (p.Pro153=)
|
rs201227173
|
0.00005
|
NM_000334.4(SCN4A):c.4626C>T (p.Leu1542=)
|
rs773864470
|
0.00005
|
NM_000334.4(SCN4A):c.4881C>T (p.Phe1627=)
|
rs771914246
|
0.00005
|
NM_000334.4(SCN4A):c.5085C>T (p.Asp1695=)
|
rs755769915
|
0.00005
|
NM_000334.4(SCN4A):c.5343C>T (p.Gly1781=)
|
rs745441690
|
0.00005
|
NM_000334.4(SCN4A):c.704-8G>A
|
rs762393514
|
0.00005
|
NM_000069.2(CACNA1S):c.-140C>T
|
rs547864807
|
0.00004
|
NM_000069.3(CACNA1S):c.1393+13G>A
|
rs368898958
|
0.00004
|
NM_000069.3(CACNA1S):c.1492C>T (p.Arg498Cys)
|
rs532351874
|
0.00004
|
NM_000069.3(CACNA1S):c.152+9C>T
|
rs202183450
|
0.00004
|
NM_000069.3(CACNA1S):c.1678G>A (p.Ala560Thr)
|
rs763794604
|
0.00004
|
NM_000069.3(CACNA1S):c.1719C>T (p.Phe573=)
|
rs759501199
|
0.00004
|
NM_000069.3(CACNA1S):c.1827+17C>T
|
rs373219605
|
0.00004
|
NM_000069.3(CACNA1S):c.1948+11G>A
|
rs199852936
|
0.00004
|
NM_000069.3(CACNA1S):c.2148C>T (p.Thr716=)
|
rs747075757
|
0.00004
|
NM_000069.3(CACNA1S):c.2207A>T (p.Tyr736Phe)
|
rs756870237
|
0.00004
|
NM_000069.3(CACNA1S):c.2217C>T (p.Ala739=)
|
rs200379217
|
0.00004
|
NM_000069.3(CACNA1S):c.2380C>T (p.Arg794Cys)
|
rs373328930
|
0.00004
|
NM_000069.3(CACNA1S):c.2453C>T (p.Ala818Val)
|
rs372668776
|
0.00004
|
NM_000069.3(CACNA1S):c.2632G>A (p.Val878Met)
|
rs202131129
|
0.00004
|
NM_000069.3(CACNA1S):c.2667C>T (p.Ala889=)
|
rs188071541
|
0.00004
|
NM_000069.3(CACNA1S):c.2754G>A (p.Val918=)
|
rs150708636
|
0.00004
|
NM_000069.3(CACNA1S):c.2835C>T (p.Ile945=)
|
rs753072795
|
0.00004
|
NM_000069.3(CACNA1S):c.2874C>T (p.Thr958=)
|
rs200427762
|
0.00004
|
NM_000069.3(CACNA1S):c.2962C>T (p.Arg988Cys)
|
rs143722841
|
0.00004
|
NM_000069.3(CACNA1S):c.297T>A (p.Ile99=)
|
rs202132932
|
0.00004
|
NM_000069.3(CACNA1S):c.3090C>T (p.Asp1030=)
|
rs766639108
|
0.00004
|
NM_000069.3(CACNA1S):c.3091G>A (p.Val1031Met)
|
rs777328046
|
0.00004
|
NM_000069.3(CACNA1S):c.3696C>T (p.Ser1232=)
|
rs570706043
|
0.00004
|
NM_000069.3(CACNA1S):c.3746G>A (p.Arg1249Gln)
|
rs775009783
|
0.00004
|
NM_000069.3(CACNA1S):c.3796-19G>A
|
rs369787862
|
0.00004
|
NM_000069.3(CACNA1S):c.4250T>A (p.Ile1417Asn)
|
rs372383822
|
0.00004
|
NM_000069.3(CACNA1S):c.4415G>A (p.Arg1472His)
|
rs201463541
|
0.00004
|
NM_000069.3(CACNA1S):c.4437G>A (p.Thr1479=)
|
rs200538716
|
0.00004
|
NM_000069.3(CACNA1S):c.4461C>T (p.Asn1487=)
|
rs149668892
|
0.00004
|
NM_000069.3(CACNA1S):c.454A>G (p.Met152Val)
|
rs369332959
|
0.00004
|
NM_000069.3(CACNA1S):c.4690G>A (p.Glu1564Lys)
|
rs368421264
|
0.00004
|
NM_000069.3(CACNA1S):c.471C>T (p.Ala157=)
|
rs768664157
|
0.00004
|
NM_000069.3(CACNA1S):c.4882C>T (p.Leu1628Phe)
|
rs200848930
|
0.00004
|
NM_000069.3(CACNA1S):c.490C>T (p.Leu164Phe)
|
rs747238231
|
0.00004
|
NM_000069.3(CACNA1S):c.5325T>C (p.Asn1775=)
|
rs762606454
|
0.00004
|
NM_000069.3(CACNA1S):c.5370+7C>T
|
rs571061537
|
0.00004
|
NM_000069.3(CACNA1S):c.565A>G (p.Ile189Val)
|
rs749551758
|
0.00004
|
NM_000069.3(CACNA1S):c.598G>A (p.Ala200Thr)
|
rs527702358
|
0.00004
|
NM_000069.3(CACNA1S):c.619G>A (p.Val207Ile)
|
rs767571919
|
0.00004
|
NM_000069.3(CACNA1S):c.784C>T (p.Arg262Trp)
|
rs186538122
|
0.00004
|
NM_000069.3(CACNA1S):c.87G>T (p.Arg29=)
|
rs748352939
|
0.00004
|
NM_000069.3(CACNA1S):c.889G>A (p.Val297Ile)
|
rs138205421
|
0.00004
|
NM_000069.3(CACNA1S):c.898T>C (p.Trp300Arg)
|
rs370325121
|
0.00004
|
NM_000069.3(CACNA1S):c.901-16C>A
|
rs753250644
|
0.00004
|
NM_000334.4(SCN4A):c.1017C>T (p.Asp339=)
|
rs375655445
|
0.00004
|
NM_000334.4(SCN4A):c.1221T>C (p.Tyr407=)
|
rs1450986503
|
0.00004
|
NM_000334.4(SCN4A):c.1353C>T (p.Ala451=)
|
rs779308374
|
0.00004
|
NM_000334.4(SCN4A):c.1413G>A (p.Met471Ile)
|
rs527384137
|
0.00004
|
NM_000334.4(SCN4A):c.204C>T (p.Tyr68=)
|
rs80266947
|
0.00004
|
NM_000334.4(SCN4A):c.2112G>A (p.Thr704=)
|
rs374119331
|
0.00004
|
NM_000334.4(SCN4A):c.2235T>C (p.His745=)
|
rs777157991
|
0.00004
|
NM_000334.4(SCN4A):c.2256C>T (p.Leu752=)
|
rs375596512
|
0.00004
|
NM_000334.4(SCN4A):c.2376+10G>A
|
rs1194053149
|
0.00004
|
NM_000334.4(SCN4A):c.2853+8G>A
|
rs377221069
|
0.00004
|
NM_000334.4(SCN4A):c.2886G>A (p.Ser962=)
|
rs779571330
|
0.00004
|
NM_000334.4(SCN4A):c.3442-18G>T
|
rs377676692
|
0.00004
|
NM_000334.4(SCN4A):c.3594C>T (p.Phe1198=)
|
rs201346556
|
0.00004
|
NM_000334.4(SCN4A):c.3721-20C>T
|
rs758053088
|
0.00004
|
NM_000334.4(SCN4A):c.3939G>A (p.Thr1313=)
|
rs769542012
|
0.00004
|
NM_000334.4(SCN4A):c.4289-4G>A
|
rs750364111
|
0.00004
|
NM_000334.4(SCN4A):c.4566C>T (p.Phe1522=)
|
rs538968877
|
0.00004
|
NM_000334.4(SCN4A):c.4581C>A (p.Ile1527=)
|
rs752523459
|
0.00004
|
NM_000334.4(SCN4A):c.5145C>T (p.Tyr1715=)
|
rs768902509
|
0.00004
|
NM_000334.4(SCN4A):c.5205G>C (p.Gln1735His)
|
rs199944673
|
0.00004
|
NM_000334.4(SCN4A):c.5367G>A (p.Ser1789=)
|
rs189230866
|
0.00004
|
NM_000334.4(SCN4A):c.611+9G>A
|
rs541455106
|
0.00004
|
NM_000334.4(SCN4A):c.903C>T (p.Tyr301=)
|
rs201411232
|
0.00004
|
NM_000334.4(SCN4A):c.939C>T (p.Tyr313=)
|
rs761930114
|
0.00004
|
NM_000891.3(KCNJ2):c.1164C>T (p.Asp388=)
|
rs150855087
|
0.00004
|
NM_000891.3(KCNJ2):c.570C>T (p.Asn190=)
|
rs183993685
|
0.00004
|
NM_000891.3(KCNJ2):c.597C>T (p.Ala199=)
|
rs771056622
|
0.00004
|
NM_000069.3(CACNA1S):c.1290G>A (p.Lys430=)
|
rs1241905770
|
0.00003
|
NM_000069.3(CACNA1S):c.1383C>G (p.Thr461=)
|
rs144920422
|
0.00003
|
NM_000069.3(CACNA1S):c.1393+11A>T
|
rs753604199
|
0.00003
|
NM_000069.3(CACNA1S):c.1393+18G>T
|
rs199625342
|
0.00003
|
NM_000069.3(CACNA1S):c.1393+8G>A
|
rs372197177
|
0.00003
|
NM_000069.3(CACNA1S):c.140T>A (p.Ile47Asn)
|
rs372497364
|
0.00003
|
NM_000069.3(CACNA1S):c.1845C>T (p.Asp615=)
|
rs200091030
|
0.00003
|
NM_000069.3(CACNA1S):c.1855A>G (p.Met619Val)
|
rs776996468
|
0.00003
|
NM_000069.3(CACNA1S):c.2228-9T>C
|
rs1030557258
|
0.00003
|
NM_000069.3(CACNA1S):c.225G>A (p.Pro75=)
|
rs143816534
|
0.00003
|
NM_000069.3(CACNA1S):c.2381G>A (p.Arg794His)
|
rs760674518
|
0.00003
|
NM_000069.3(CACNA1S):c.2415C>T (p.Ile805=)
|
rs267598294
|
0.00003
|
NM_000069.3(CACNA1S):c.2562C>T (p.Tyr854=)
|
rs373510147
|
0.00003
|
NM_000069.3(CACNA1S):c.2785G>A (p.Gly929Arg)
|
rs146903750
|
0.00003
|
NM_000069.3(CACNA1S):c.2919C>T (p.Tyr973=)
|
rs751043315
|
0.00003
|
NM_000069.3(CACNA1S):c.2928G>A (p.Lys976=)
|
rs759359831
|
0.00003
|
NM_000069.3(CACNA1S):c.2956C>T (p.Arg986Cys)
|
rs770099347
|
0.00003
|
NM_000069.3(CACNA1S):c.3039C>T (p.Phe1013=)
|
rs139235699
|
0.00003
|
NM_000069.3(CACNA1S):c.3084G>A (p.Ala1028=)
|
rs764100695
|
0.00003
|
NM_000069.3(CACNA1S):c.3113G>A (p.Arg1038His)
|
rs774884290
|
0.00003
|
NM_000069.3(CACNA1S):c.3129C>A (p.Ile1043=)
|
rs774801845
|
0.00003
|
NM_000069.3(CACNA1S):c.3610-17G>A
|
rs368357562
|
0.00003
|
NM_000069.3(CACNA1S):c.3667-5C>T
|
rs368885124
|
0.00003
|
NM_000069.3(CACNA1S):c.3796-20C>T
|
rs543850144
|
0.00003
|
NM_000069.3(CACNA1S):c.3807C>T (p.Tyr1269=)
|
rs990173222
|
0.00003
|
NM_000069.3(CACNA1S):c.3890G>A (p.Gly1297Glu)
|
rs749856222
|
0.00003
|
NM_000069.3(CACNA1S):c.4032T>C (p.Tyr1344=)
|
rs138167275
|
0.00003
|
NM_000069.3(CACNA1S):c.409G>A (p.Val137Met)
|
rs753195502
|
0.00003
|
NM_000069.3(CACNA1S):c.4543+15G>A
|
rs746717103
|
0.00003
|
NM_000069.3(CACNA1S):c.4776G>A (p.Ala1592=)
|
rs752911523
|
0.00003
|
NM_000069.3(CACNA1S):c.482T>C (p.Val161Ala)
|
rs141521945
|
0.00003
|
NM_000069.3(CACNA1S):c.5004C>T (p.Val1668=)
|
rs140268231
|
0.00003
|
NM_000069.3(CACNA1S):c.588C>G (p.Leu196=)
|
rs746654928
|
0.00003
|
NM_000069.3(CACNA1S):c.670A>G (p.Lys224Glu)
|
rs374763528
|
0.00003
|
NM_000069.3(CACNA1S):c.695-8G>A
|
rs779849127
|
0.00003
|
NM_000069.3(CACNA1S):c.699C>T (p.Ile233=)
|
rs756008578
|
0.00003
|
NM_000069.3(CACNA1S):c.785G>A (p.Arg262Gln)
|
rs776311349
|
0.00003
|
NM_000069.3(CACNA1S):c.85C>T (p.Arg29Trp)
|
rs577022740
|
0.00003
|
NM_000069.3(CACNA1S):c.915C>T (p.Ile305=)
|
rs376517944
|
0.00003
|
NM_000334.4(SCN4A):c.*670T>G
|
rs148552329
|
0.00003
|
NM_000334.4(SCN4A):c.1539G>A (p.Ser513=)
|
rs758833537
|
0.00003
|
NM_000334.4(SCN4A):c.1593C>T (p.Ser531=)
|
rs139988178
|
0.00003
|
NM_000334.4(SCN4A):c.1947C>T (p.Ile649=)
|
rs564134251
|
0.00003
|
NM_000334.4(SCN4A):c.1995G>T (p.Leu665=)
|
rs189925781
|
0.00003
|
NM_000334.4(SCN4A):c.2163G>A (p.Leu721=)
|
rs371312493
|
0.00003
|
NM_000334.4(SCN4A):c.237C>T (p.Pro79=)
|
rs374261960
|
0.00003
|
NM_000334.4(SCN4A):c.2574C>T (p.Leu858=)
|
rs184107335
|
0.00003
|
NM_000334.4(SCN4A):c.3318+15G>A
|
rs371928013
|
0.00003
|
NM_000334.4(SCN4A):c.354C>T (p.Ser118=)
|
rs753453769
|
0.00003
|
NM_000334.4(SCN4A):c.4116G>A (p.Val1372=)
|
rs755256694
|
0.00003
|
NM_000334.4(SCN4A):c.4263C>T (p.Phe1421=)
|
rs267604989
|
0.00003
|
NM_000334.4(SCN4A):c.4288+7G>C
|
rs773803283
|
0.00003
|
NM_000334.4(SCN4A):c.4323C>T (p.Phe1441=)
|
rs372442108
|
0.00003
|
NM_000334.4(SCN4A):c.4545T>C (p.Asp1515=)
|
rs924795809
|
0.00003
|
NM_000334.4(SCN4A):c.4704C>T (p.Cys1568=)
|
rs548305586
|
0.00003
|
NM_000334.4(SCN4A):c.5029C>T (p.Leu1677=)
|
rs774089795
|
0.00003
|
NM_000334.4(SCN4A):c.5191G>A (p.Ala1731Thr)
|
rs371104286
|
0.00003
|
NM_000334.4(SCN4A):c.855G>A (p.Pro285=)
|
rs763725074
|
0.00003
|
NM_000334.4(SCN4A):c.879G>A (p.Thr293=)
|
rs780568994
|
0.00003
|
NM_000334.4(SCN4A):c.96G>A (p.Ala32=)
|
rs575515777
|
0.00003
|
NM_000891.3(KCNJ2):c.1206G>A (p.Thr402=)
|
rs1279223538
|
0.00003
|
NM_000891.3(KCNJ2):c.1227C>T (p.His409=)
|
rs933444870
|
0.00003
|
NM_000891.3(KCNJ2):c.1259C>T (p.Pro420Leu)
|
rs749707062
|
0.00003
|
NM_000891.3(KCNJ2):c.513C>T (p.Ile171=)
|
rs573888708
|
0.00003
|
NM_000069.3(CACNA1S):c.1044A>G (p.Gly348=)
|
rs376276490
|
0.00002
|
NM_000069.3(CACNA1S):c.1060C>T (p.Arg354Trp)
|
rs751247956
|
0.00002
|
NM_000069.3(CACNA1S):c.1113G>A (p.Thr371=)
|
rs202245647
|
0.00002
|
NM_000069.3(CACNA1S):c.120G>A (p.Leu40=)
|
rs1420406971
|
0.00002
|
NM_000069.3(CACNA1S):c.1302C>T (p.Phe434=)
|
rs1051111849
|
0.00002
|
NM_000069.3(CACNA1S):c.1305T>C (p.Tyr435=)
|
rs763639897
|
0.00002
|
NM_000069.3(CACNA1S):c.1347C>T (p.Ile449=)
|
rs754689047
|
0.00002
|
NM_000069.3(CACNA1S):c.1398T>C (p.Ile466=)
|
rs750207191
|
0.00002
|
NM_000069.3(CACNA1S):c.1466G>A (p.Arg489His)
|
rs553739117
|
0.00002
|
NM_000069.3(CACNA1S):c.1467C>T (p.Arg489=)
|
rs1384040104
|
0.00002
|
NM_000069.3(CACNA1S):c.1519G>A (p.Gly507Ser)
|
rs554729466
|
0.00002
|
NM_000069.3(CACNA1S):c.1531A>C (p.Ile511Leu)
|
rs748021245
|
0.00002
|
NM_000069.3(CACNA1S):c.1591C>T (p.Arg531Cys)
|
rs751671175
|
0.00002
|
NM_000069.3(CACNA1S):c.1619+15C>T
|
rs771698501
|
0.00002
|
NM_000069.3(CACNA1S):c.1637G>A (p.Ser546Asn)
|
rs373525085
|
0.00002
|
NM_000069.3(CACNA1S):c.1915A>G (p.Ile639Val)
|
rs185777948
|
0.00002
|
NM_000069.3(CACNA1S):c.1954C>T (p.Leu652=)
|
rs781471427
|
0.00002
|
NM_000069.3(CACNA1S):c.2166C>T (p.Ile722=)
|
rs369317595
|
0.00002
|
NM_000069.3(CACNA1S):c.2235C>T (p.Asp745=)
|
rs754971473
|
0.00002
|
NM_000069.3(CACNA1S):c.2310C>T (p.Ala770=)
|
rs113659687
|
0.00002
|
NM_000069.3(CACNA1S):c.2407A>G (p.Asn803Asp)
|
rs561979536
|
0.00002
|
NM_000069.3(CACNA1S):c.2539A>G (p.Ile847Val)
|
rs764821044
|
0.00002
|
NM_000069.3(CACNA1S):c.259-14G>A
|
rs762197754
|
0.00002
|
NM_000069.3(CACNA1S):c.2594G>A (p.Arg865His)
|
rs545411173
|
0.00002
|
NM_000069.3(CACNA1S):c.2838C>T (p.Gly946=)
|
rs759934490
|
0.00002
|
NM_000069.3(CACNA1S):c.2853+18C>T
|
rs768391679
|
0.00002
|
NM_000069.3(CACNA1S):c.2854-15T>G
|
rs1405252446
|
0.00002
|
NM_000069.3(CACNA1S):c.2901G>A (p.Glu967=)
|
rs745738564
|
0.00002
|
NM_000069.3(CACNA1S):c.303C>T (p.Ala101=)
|
rs774035496
|
0.00002
|
NM_000069.3(CACNA1S):c.3053+19C>G
|
rs372276351
|
0.00002
|
NM_000069.3(CACNA1S):c.3331G>A (p.Val1111Met)
|
rs200558548
|
0.00002
|
NM_000069.3(CACNA1S):c.3530A>T (p.Tyr1177Phe)
|
rs774511818
|
0.00002
|
NM_000069.3(CACNA1S):c.3610-18C>T
|
rs747616430
|
0.00002
|
NM_000069.3(CACNA1S):c.3666+18G>A
|
rs367683228
|
0.00002
|
NM_000069.3(CACNA1S):c.3729G>A (p.Leu1243=)
|
rs370688176
|
0.00002
|
NM_000069.3(CACNA1S):c.3796-10C>T
|
rs199678161
|
0.00002
|
NM_000069.3(CACNA1S):c.3888T>C (p.Asp1296=)
|
rs769128110
|
0.00002
|
NM_000069.3(CACNA1S):c.4008G>A (p.Lys1336=)
|
rs374426148
|
0.00002
|
NM_000069.3(CACNA1S):c.4023G>A (p.Glu1341=)
|
rs753756026
|
0.00002
|
NM_000069.3(CACNA1S):c.4242-5C>T
|
rs749316339
|
0.00002
|
NM_000069.3(CACNA1S):c.4264G>A (p.Val1422Met)
|
rs1224786667
|
0.00002
|
NM_000069.3(CACNA1S):c.4501A>G (p.Thr1501Ala)
|
rs373248127
|
0.00002
|
NM_000069.3(CACNA1S):c.481G>A (p.Val161Ile)
|
rs138265497
|
0.00002
|
NM_000069.3(CACNA1S):c.5135-14C>T
|
rs762466711
|
0.00002
|
NM_000069.3(CACNA1S):c.5135-4A>G
|
rs1388042700
|
0.00002
|
NM_000069.3(CACNA1S):c.5217C>T (p.Ala1739=)
|
rs772010734
|
0.00002
|
NM_000069.3(CACNA1S):c.5238G>A (p.Val1746=)
|
rs374660431
|
0.00002
|
NM_000069.3(CACNA1S):c.5437G>A (p.Ala1813Thr)
|
rs777333498
|
0.00002
|
NM_000069.3(CACNA1S):c.556C>T (p.Leu186=)
|
rs774618678
|
0.00002
|
NM_000069.3(CACNA1S):c.5575G>A (p.Asp1859Asn)
|
rs191263754
|
0.00002
|
NM_000069.3(CACNA1S):c.702G>T (p.Val234=)
|
rs752724350
|
0.00002
|
NM_000069.3(CACNA1S):c.707C>T (p.Thr236Met)
|
rs767790285
|
0.00002
|
NM_000069.3(CACNA1S):c.708G>C (p.Thr236=)
|
rs754213830
|
0.00002
|
NM_000069.3(CACNA1S):c.735C>T (p.Cys245=)
|
rs768251314
|
0.00002
|
NM_000069.3(CACNA1S):c.757C>T (p.Arg253Trp)
|
rs555596737
|
0.00002
|
NM_000069.3(CACNA1S):c.835G>A (p.Gly279Ser)
|
rs375704313
|
0.00002
|
NM_000069.3(CACNA1S):c.90C>G (p.Ala30=)
|
rs779221524
|
0.00002
|
NM_000334.4(SCN4A):c.1036+20C>T
|
rs755836242
|
0.00002
|
NM_000334.4(SCN4A):c.1293C>T (p.Ile431=)
|
rs753010557
|
0.00002
|
NM_000334.4(SCN4A):c.1332C>T (p.Ala444=)
|
rs761874460
|
0.00002
|
NM_000334.4(SCN4A):c.150C>T (p.Pro50=)
|
rs374359880
|
0.00002
|
NM_000334.4(SCN4A):c.1800C>T (p.Tyr600=)
|
rs778746718
|
0.00002
|
NM_000334.4(SCN4A):c.1845+11G>T
|
rs761523703
|
0.00002
|
NM_000334.4(SCN4A):c.1983C>T (p.Asn661=)
|
rs370216331
|
0.00002
|
NM_000334.4(SCN4A):c.2262C>T (p.Val754=)
|
rs372634288
|
0.00002
|
NM_000334.4(SCN4A):c.2439G>A (p.Ser813=)
|
rs137890985
|
0.00002
|
NM_000334.4(SCN4A):c.2469G>A (p.Gln823=)
|
rs1020010363
|
0.00002
|
NM_000334.4(SCN4A):c.2778C>T (p.Ile926=)
|
rs769634298
|
0.00002
|
NM_000334.4(SCN4A):c.2784C>T (p.Ser928=)
|
rs775693710
|
0.00002
|
NM_000334.4(SCN4A):c.2989+7G>A
|
rs558907834
|
0.00002
|
NM_000334.4(SCN4A):c.2990-8C>T
|
rs369430465
|
0.00002
|
NM_000334.4(SCN4A):c.2994C>T (p.Cys998=)
|
rs185803223
|
0.00002
|
NM_000334.4(SCN4A):c.3004T>C (p.Trp1002Arg)
|
rs544082594
|
0.00002
|
NM_000334.4(SCN4A):c.3039T>C (p.Arg1013=)
|
rs1319435457
|
0.00002
|
NM_000334.4(SCN4A):c.3318+17T>C
|
rs766325793
|
0.00002
|
NM_000334.4(SCN4A):c.3402G>T (p.Leu1134=)
|
rs769404443
|
0.00002
|
NM_000334.4(SCN4A):c.3442-15C>A
|
rs763401184
|
0.00002
|
NM_000334.4(SCN4A):c.3525C>T (p.Ser1175=)
|
rs750868036
|
0.00002
|
NM_000334.4(SCN4A):c.3681C>T (p.Tyr1227=)
|
rs368851367
|
0.00002
|
NM_000334.4(SCN4A):c.3876C>T (p.Gly1292=)
|
rs1461420199
|
0.00002
|
NM_000334.4(SCN4A):c.4052C>T (p.Thr1351Met)
|
rs545724550
|
0.00002
|
NM_000334.4(SCN4A):c.4359G>A (p.Ala1453=)
|
rs757915411
|
0.00002
|
NM_000334.4(SCN4A):c.4364T>C (p.Ile1455Thr)
|
rs377176361
|
0.00002
|
NM_000334.4(SCN4A):c.4419C>T (p.Phe1473=)
|
rs374319193
|
0.00002
|
NM_000334.4(SCN4A):c.4434G>A (p.Ser1478=)
|
rs753725579
|
0.00002
|
NM_000334.4(SCN4A):c.483-7C>T
|
rs780933125
|
0.00002
|
NM_000334.4(SCN4A):c.4878G>A (p.Lys1626=)
|
rs374337084
|
0.00002
|
NM_000334.4(SCN4A):c.703+9G>A
|
rs374667853
|
0.00002
|
NM_000334.4(SCN4A):c.897G>A (p.Thr299=)
|
rs553636410
|
0.00002
|
NM_000334.4(SCN4A):c.969G>A (p.Thr323=)
|
rs1429424012
|
0.00002
|
NM_000891.3(KCNJ2):c.1002G>A (p.Lys334=)
|
rs372264881
|
0.00002
|
NM_000891.3(KCNJ2):c.282G>A (p.Leu94=)
|
rs776798798
|
0.00002
|
NM_000891.3(KCNJ2):c.411T>C (p.Ile137=)
|
rs775567368
|
0.00002
|
NM_000891.3(KCNJ2):c.858C>T (p.Asp286=)
|
rs142750807
|
0.00002
|
NM_000891.3(KCNJ2):c.882C>T (p.Ile294=)
|
rs751279819
|
0.00002
|
NM_000069.3(CACNA1S):c.1004+20C>A
|
rs751411574
|
0.00001
|
NM_000069.3(CACNA1S):c.106C>T (p.Leu36=)
|
rs987261263
|
0.00001
|
NM_000069.3(CACNA1S):c.1146A>G (p.Arg382=)
|
rs1280543232
|
0.00001
|
NM_000069.3(CACNA1S):c.1150+14G>A
|
rs776256379
|
0.00001
|
NM_000069.3(CACNA1S):c.1156C>T (p.Leu386=)
|
rs575134797
|
0.00001
|
NM_000069.3(CACNA1S):c.1194G>A (p.Leu398=)
|
rs200689828
|
0.00001
|
NM_000069.3(CACNA1S):c.1233-15T>C
|
rs376591072
|
0.00001
|
NM_000069.3(CACNA1S):c.1254C>T (p.Asn418=)
|
rs769532451
|
0.00001
|
NM_000069.3(CACNA1S):c.1323C>T (p.Ile441=)
|
rs1236795297
|
0.00001
|
NM_000069.3(CACNA1S):c.1356G>A (p.Glu452=)
|
rs760677210
|
0.00001
|
NM_000069.3(CACNA1S):c.1368G>A (p.Gln456=)
|
rs767568799
|
0.00001
|
NM_000069.3(CACNA1S):c.1461C>A (p.Gly487=)
|
rs748760411
|
0.00001
|
NM_000069.3(CACNA1S):c.1497C>T (p.Phe499=)
|
rs1309387978
|
0.00001
|
NM_000069.3(CACNA1S):c.1518C>T (p.Ser506=)
|
rs780958897
|
0.00001
|
NM_000069.3(CACNA1S):c.1611G>A (p.Lys537=)
|
rs765888271
|
0.00001
|
NM_000069.3(CACNA1S):c.1628C>T (p.Thr543Met)
|
rs777962341
|
0.00001
|
NM_000069.3(CACNA1S):c.1632G>A (p.Ser544=)
|
rs774899299
|
0.00001
|
NM_000069.3(CACNA1S):c.1656G>A (p.Leu552=)
|
rs755365324
|
0.00001
|
NM_000069.3(CACNA1S):c.1677C>T (p.Ile559=)
|
rs372013296
|
0.00001
|
NM_000069.3(CACNA1S):c.1690C>T (p.Leu564=)
|
rs964085624
|
0.00001
|
NM_000069.3(CACNA1S):c.1791T>C (p.Phe597=)
|
rs200887343
|
0.00001
|
NM_000069.3(CACNA1S):c.1959C>G (p.Leu653=)
|
rs1414491241
|
0.00001
|
NM_000069.3(CACNA1S):c.201C>T (p.Ala67=)
|
rs1383561230
|
0.00001
|
NM_000069.3(CACNA1S):c.2064-20C>T
|
rs373176654
|
0.00001
|
NM_000069.3(CACNA1S):c.2142C>A (p.Ile714=)
|
rs1057524027
|
0.00001
|
NM_000069.3(CACNA1S):c.2158-14G>A
|
rs780867598
|
0.00001
|
NM_000069.3(CACNA1S):c.2187C>T (p.Val729=)
|
rs770255183
|
0.00001
|
NM_000069.3(CACNA1S):c.2229G>A (p.Gly743=)
|
rs368154721
|
0.00001
|
NM_000069.3(CACNA1S):c.2280C>T (p.Pro760=)
|
rs996079936
|
0.00001
|
NM_000069.3(CACNA1S):c.2281C>T (p.Leu761=)
|
rs746563591
|
0.00001
|
NM_000069.3(CACNA1S):c.2289G>A (p.Glu763=)
|
rs1427158400
|
0.00001
|
NM_000069.3(CACNA1S):c.2385C>T (p.Ile795=)
|
rs200730765
|
0.00001
|
NM_000069.3(CACNA1S):c.2442T>C (p.Ala814=)
|
rs1198118590
|
0.00001
|
NM_000069.3(CACNA1S):c.2512G>A (p.Gly838Arg)
|
rs1356510559
|
0.00001
|
NM_000069.3(CACNA1S):c.2556G>A (p.Thr852=)
|
rs1160627876
|
0.00001
|
NM_000069.3(CACNA1S):c.2571C>T (p.Phe857=)
|
rs764738319
|
0.00001
|
NM_000069.3(CACNA1S):c.258+7T>C
|
rs1243109044
|
0.00001
|
NM_000069.3(CACNA1S):c.2631C>T (p.Ala877=)
|
rs747402764
|
0.00001
|
NM_000069.3(CACNA1S):c.2658-10C>T
|
rs760659248
|
0.00001
|
NM_000069.3(CACNA1S):c.2658-5C>T
|
rs1476160747
|
0.00001
|
NM_000069.3(CACNA1S):c.2688G>A (p.Leu896=)
|
rs945772592
|
0.00001
|
NM_000069.3(CACNA1S):c.2745+11G>T
|
rs756261167
|
0.00001
|
NM_000069.3(CACNA1S):c.2746-8G>C
|
rs1572039133
|
0.00001
|
NM_000069.3(CACNA1S):c.2766C>T (p.Phe922=)
|
rs376393159
|
0.00001
|
NM_000069.3(CACNA1S):c.276C>T (p.Phe92=)
|
rs774994749
|
0.00001
|
NM_000069.3(CACNA1S):c.2854-4G>A
|
rs1421864888
|
0.00001
|
NM_000069.3(CACNA1S):c.2854-6C>T
|
rs1033462438
|
0.00001
|
NM_000069.3(CACNA1S):c.2862C>T (p.Phe954=)
|
rs1402878092
|
0.00001
|
NM_000069.3(CACNA1S):c.2884A>G (p.Lys962Glu)
|
rs200300308
|
0.00001
|
NM_000069.3(CACNA1S):c.288C>T (p.Val96=)
|
rs548832647
|
0.00001
|
NM_000069.3(CACNA1S):c.2895G>A (p.Glu965=)
|
rs1310231316
|
0.00001
|
NM_000069.3(CACNA1S):c.2907-16G>A
|
rs756591873
|
0.00001
|
NM_000069.3(CACNA1S):c.2910C>T (p.Gly970=)
|
rs1572035925
|
0.00001
|
NM_000069.3(CACNA1S):c.2922G>A (p.Val974=)
|
rs377715551
|
0.00001
|
NM_000069.3(CACNA1S):c.2931C>T (p.Asp977=)
|
rs374912997
|
0.00001
|
NM_000069.3(CACNA1S):c.294G>A (p.Ser98=)
|
rs201012916
|
0.00001
|
NM_000069.3(CACNA1S):c.3036C>T (p.Thr1012=)
|
rs1661064920
|
0.00001
|
NM_000069.3(CACNA1S):c.3054-19C>A
|
rs768208345
|
0.00001
|
NM_000069.3(CACNA1S):c.3054-6C>T
|
rs1414012957
|
0.00001
|
NM_000069.3(CACNA1S):c.3054G>A (p.Gln1018=)
|
rs141956714
|
0.00001
|
NM_000069.3(CACNA1S):c.3080A>G (p.Asn1027Ser)
|
rs757112281
|
0.00001
|
NM_000069.3(CACNA1S):c.3096T>A (p.Gly1032=)
|
rs1661044517
|
0.00001
|
NM_000069.3(CACNA1S):c.315C>T (p.Ile105=)
|
rs756365041
|
0.00001
|
NM_000069.3(CACNA1S):c.3166A>G (p.Met1056Val)
|
rs757165791
|
0.00001
|
NM_000069.3(CACNA1S):c.3189C>T (p.Phe1063=)
|
rs150020550
|
0.00001
|
NM_000069.3(CACNA1S):c.321C>T (p.Ala107=)
|
rs772876806
|
0.00001
|
NM_000069.3(CACNA1S):c.3237T>C (p.Cys1079=)
|
rs1398878764
|
0.00001
|
NM_000069.3(CACNA1S):c.3256-9G>A
|
rs1294455750
|
0.00001
|
NM_000069.3(CACNA1S):c.331T>C (p.Leu111=)
|
rs1453821550
|
0.00001
|
NM_000069.3(CACNA1S):c.3390C>G (p.Leu1130=)
|
rs140294191
|
0.00001
|
NM_000069.3(CACNA1S):c.3405C>T (p.Leu1135=)
|
rs777887405
|
0.00001
|
NM_000069.3(CACNA1S):c.3414+10C>T
|
rs373169793
|
0.00001
|
NM_000069.3(CACNA1S):c.3525+19G>A
|
rs768948072
|
0.00001
|
NM_000069.3(CACNA1S):c.3538G>A (p.Asp1180Asn)
|
rs775845281
|
0.00001
|
NM_000069.3(CACNA1S):c.3579C>T (p.Ser1193=)
|
rs746543020
|
0.00001
|
NM_000069.3(CACNA1S):c.3584T>C (p.Ile1195Thr)
|
rs200366112
|
0.00001
|
NM_000069.3(CACNA1S):c.3609+12G>A
|
rs753525579
|
0.00001
|
NM_000069.3(CACNA1S):c.3627C>T (p.Ser1209=)
|
rs200852196
|
0.00001
|
NM_000069.3(CACNA1S):c.3636G>A (p.Leu1212=)
|
rs774191804
|
0.00001
|
NM_000069.3(CACNA1S):c.3658G>A (p.Gly1220Arg)
|
rs776908038
|
0.00001
|
NM_000069.3(CACNA1S):c.3663C>T (p.Asn1221=)
|
rs773738696
|
0.00001
|
NM_000069.3(CACNA1S):c.3666+14G>T
|
rs768205078
|
0.00001
|
NM_000069.3(CACNA1S):c.3667-4G>A
|
rs762497596
|
0.00001
|
NM_000069.3(CACNA1S):c.3690C>T (p.Ile1230=)
|
rs1246570435
|
0.00001
|
NM_000069.3(CACNA1S):c.3786G>A (p.Lys1262=)
|
rs1660728565
|
0.00001
|
NM_000069.3(CACNA1S):c.3795+10G>A
|
rs1361377771
|
0.00001
|
NM_000069.3(CACNA1S):c.3823G>A (p.Val1275Ile)
|
rs760441649
|
0.00001
|
NM_000069.3(CACNA1S):c.3852C>T (p.Ile1284=)
|
rs1024486307
|
0.00001
|
NM_000069.3(CACNA1S):c.3876C>T (p.Ile1292=)
|
rs748525277
|
0.00001
|
NM_000069.3(CACNA1S):c.3943C>T (p.Leu1315=)
|
rs1262731998
|
0.00001
|
NM_000069.3(CACNA1S):c.3953+18C>T
|
rs749628635
|
0.00001
|
NM_000069.3(CACNA1S):c.4017C>T (p.Asp1339=)
|
rs754778841
|
0.00001
|
NM_000069.3(CACNA1S):c.408C>T (p.Thr136=)
|
rs758816304
|
0.00001
|
NM_000069.3(CACNA1S):c.4166G>A (p.Arg1389Gln)
|
rs756438139
|
0.00001
|
NM_000069.3(CACNA1S):c.4242-10C>G
|
rs574154912
|
0.00001
|
NM_000069.3(CACNA1S):c.4242-4G>A
|
rs780264366
|
0.00001
|
NM_000069.3(CACNA1S):c.4263C>T (p.Asp1421=)
|
rs368436684
|
0.00001
|
NM_000069.3(CACNA1S):c.4317C>T (p.Cys1439=)
|
rs764987846
|
0.00001
|
NM_000069.3(CACNA1S):c.4339-15C>T
|
rs771362060
|
0.00001
|
NM_000069.3(CACNA1S):c.4374C>T (p.Asp1458=)
|
rs757017761
|
0.00001
|
NM_000069.3(CACNA1S):c.445A>G (p.Thr149Ala)
|
rs74642988
|
0.00001
|
NM_000069.3(CACNA1S):c.4462G>A (p.Glu1488Lys)
|
rs533353353
|
0.00001
|
NM_000069.3(CACNA1S):c.4593G>A (p.Glu1531=)
|
rs1221360815
|
0.00001
|
NM_000069.3(CACNA1S):c.4598T>C (p.Phe1533Ser)
|
rs772750589
|
0.00001
|
NM_000069.3(CACNA1S):c.4704C>T (p.Pro1568=)
|
rs1451944290
|
0.00001
|
NM_000069.3(CACNA1S):c.4770G>A (p.Glu1590=)
|
rs756402603
|
0.00001
|
NM_000069.3(CACNA1S):c.4797+16G>A
|
rs765124358
|
0.00001
|
NM_000069.3(CACNA1S):c.4798-12C>T
|
rs764751568
|
0.00001
|
NM_000069.3(CACNA1S):c.5048+8C>T
|
rs759622507
|
0.00001
|
NM_000069.3(CACNA1S):c.5058T>C (p.Tyr1686=)
|
rs1463916776
|
0.00001
|
NM_000069.3(CACNA1S):c.5135-7C>T
|
rs886038223
|
0.00001
|
NM_000069.3(CACNA1S):c.5256G>A (p.Glu1752=)
|
rs1167317929
|
0.00001
|
NM_000069.3(CACNA1S):c.5307C>T (p.Ser1769=)
|
rs767120843
|
0.00001
|
NM_000069.3(CACNA1S):c.531G>A (p.Ser177=)
|
rs750087191
|
0.00001
|
NM_000069.3(CACNA1S):c.5340A>G (p.Ser1780=)
|
rs1430395487
|
0.00001
|
NM_000069.3(CACNA1S):c.534G>A (p.Gly178=)
|
rs767013417
|
0.00001
|
NM_000069.3(CACNA1S):c.5361G>A (p.Leu1787=)
|
rs1364103316
|
0.00001
|
NM_000069.3(CACNA1S):c.5370+13C>T
|
rs1275656462
|
0.00001
|
NM_000069.3(CACNA1S):c.541+18T>A
|
rs760602154
|
0.00001
|
NM_000069.3(CACNA1S):c.541+7G>A
|
rs1218931598
|
0.00001
|
NM_000069.3(CACNA1S):c.542-17C>T
|
rs759542761
|
0.00001
|
NM_000069.3(CACNA1S):c.5423T>C (p.Met1808Thr)
|
rs1170882286
|
0.00001
|
NM_000069.3(CACNA1S):c.5556G>A (p.Gly1852=)
|
rs746057386
|
0.00001
|
NM_000069.3(CACNA1S):c.5572C>T (p.Leu1858Phe)
|
rs1356229958
|
0.00001
|
NM_000069.3(CACNA1S):c.5583C>T (p.His1861=)
|
rs764110964
|
0.00001
|
NM_000069.3(CACNA1S):c.5613A>G (p.Pro1871=)
|
rs540156963
|
0.00001
|
NM_000069.3(CACNA1S):c.564C>T (p.Ser188=)
|
rs769008033
|
0.00001
|
NM_000069.3(CACNA1S):c.656A>G (p.Lys219Arg)
|
rs771569004
|
0.00001
|
NM_000069.3(CACNA1S):c.681C>T (p.Tyr227=)
|
rs371991382
|
0.00001
|
NM_000069.3(CACNA1S):c.686T>C (p.Ile229Thr)
|
rs778551098
|
0.00001
|
NM_000069.3(CACNA1S):c.695-5T>A
|
rs1487979476
|
0.00001
|
NM_000069.3(CACNA1S):c.704C>T (p.Ala235Val)
|
rs1209511803
|
0.00001
|
NM_000069.3(CACNA1S):c.709G>A (p.Val237Met)
|
rs766892095
|
0.00001
|
NM_000069.3(CACNA1S):c.729G>A (p.Ser243=)
|
rs148593959
|
0.00001
|
NM_000069.3(CACNA1S):c.747C>T (p.Gly249=)
|
rs778890024
|
0.00001
|
NM_000069.3(CACNA1S):c.826G>A (p.Asp276Asn)
|
rs757755172
|
0.00001
|
NM_000069.3(CACNA1S):c.870C>T (p.Thr290=)
|
rs780305979
|
0.00001
|
NM_000069.3(CACNA1S):c.900+15del
|
rs556582751
|
0.00001
|
NM_000069.3(CACNA1S):c.901-19A>G
|
rs778141559
|
0.00001
|
NM_000069.3(CACNA1S):c.905A>G (p.Asn302Ser)
|
rs765889961
|
0.00001
|
NM_000334.4(SCN4A):c.1243-5C>A
|
rs374257387
|
0.00001
|
NM_000334.4(SCN4A):c.1275C>A (p.Ile425=)
|
rs1392358857
|
0.00001
|
NM_000334.4(SCN4A):c.1527C>T (p.Ser509=)
|
rs577453030
|
0.00001
|
NM_000334.4(SCN4A):c.1560G>A (p.Pro520=)
|
rs373819078
|
0.00001
|
NM_000334.4(SCN4A):c.1575C>T (p.Ser525=)
|
rs376538198
|
0.00001
|
NM_000334.4(SCN4A):c.1594G>A (p.Asp532Asn)
|
rs747479565
|
0.00001
|
NM_000334.4(SCN4A):c.1596C>T (p.Asp532=)
|
rs911873120
|
0.00001
|
NM_000334.4(SCN4A):c.1606+8C>A
|
rs575279008
|
0.00001
|
NM_000334.4(SCN4A):c.1607-9C>G
|
rs1388937963
|
0.00001
|
NM_000334.4(SCN4A):c.1647C>T (p.Tyr549=)
|
rs368996214
|
0.00001
|
NM_000334.4(SCN4A):c.1755C>T (p.Thr585=)
|
rs1208231013
|
0.00001
|
NM_000334.4(SCN4A):c.1905C>T (p.Tyr635=)
|
rs774304336
|
0.00001
|
NM_000334.4(SCN4A):c.1923T>C (p.Gly641=)
|
rs543151915
|
0.00001
|
NM_000334.4(SCN4A):c.1975C>T (p.Leu659=)
|
rs764575691
|
0.00001
|
NM_000334.4(SCN4A):c.2010C>T (p.Ser670=)
|
rs763017199
|
0.00001
|
NM_000334.4(SCN4A):c.2097G>A (p.Ala699=)
|
rs765222494
|
0.00001
|
NM_000334.4(SCN4A):c.2145C>T (p.Ala715=)
|
rs1909103840
|
0.00001
|
NM_000334.4(SCN4A):c.216G>A (p.Pro72=)
|
rs768591136
|
0.00001
|
NM_000334.4(SCN4A):c.219G>A (p.Pro73=)
|
rs779890709
|
0.00001
|
NM_000334.4(SCN4A):c.2208C>T (p.Asp736=)
|
rs751675273
|
0.00001
|
NM_000334.4(SCN4A):c.2223C>T (p.Arg741=)
|
rs1041781133
|
0.00001
|
NM_000334.4(SCN4A):c.2274G>C (p.Leu758=)
|
rs368537002
|
0.00001
|
NM_000334.4(SCN4A):c.228C>T (p.Ile76=)
|
rs1189122757
|
0.00001
|
NM_000334.4(SCN4A):c.2328C>T (p.Ala776=)
|
rs367936207
|
0.00001
|
NM_000334.4(SCN4A):c.2364C>T (p.Ile788=)
|
rs768158707
|
0.00001
|
NM_000334.4(SCN4A):c.2386C>T (p.Leu796=)
|
rs750053946
|
0.00001
|
NM_000334.4(SCN4A):c.2586C>T (p.Asp862=)
|
rs756161095
|
0.00001
|
NM_000334.4(SCN4A):c.2625C>T (p.Pro875=)
|
rs533858326
|
0.00001
|
NM_000334.4(SCN4A):c.2628G>A (p.Glu876=)
|
rs368479778
|
0.00001
|
NM_000334.4(SCN4A):c.2715C>T (p.Ser905=)
|
rs1597973581
|
0.00001
|
NM_000334.4(SCN4A):c.273+19T>G
|
rs756421900
|
0.00001
|
NM_000334.4(SCN4A):c.273+7G>A
|
rs369039376
|
0.00001
|
NM_000334.4(SCN4A):c.2760G>A (p.Leu920=)
|
rs762808534
|
0.00001
|
NM_000334.4(SCN4A):c.2797C>G (p.Leu933Val)
|
rs757508857
|
0.00001
|
NM_000334.4(SCN4A):c.2826C>T (p.Asp942=)
|
rs1183710096
|
0.00001
|
NM_000334.4(SCN4A):c.282C>T (p.Ile94=)
|
rs563602704
|
0.00001
|
NM_000334.4(SCN4A):c.2853+7C>T
|
rs760934874
|
0.00001
|
NM_000334.4(SCN4A):c.2854-19G>A
|
rs1280578508
|
0.00001
|
NM_000334.4(SCN4A):c.291C>T (p.Asn97=)
|
rs770919076
|
0.00001
|
NM_000334.4(SCN4A):c.2958G>A (p.Glu986=)
|
rs372555830
|
0.00001
|
NM_000334.4(SCN4A):c.2990-4T>A
|
rs1346938988
|
0.00001
|
NM_000334.4(SCN4A):c.3019G>A (p.Val1007Met)
|
rs781028684
|
0.00001
|
NM_000334.4(SCN4A):c.3058C>G (p.Leu1020Val)
|
rs371779795
|
0.00001
|
NM_000334.4(SCN4A):c.3099C>T (p.Phe1033=)
|
rs753862870
|
0.00001
|
NM_000334.4(SCN4A):c.3129C>T (p.Leu1043=)
|
rs747471262
|
0.00001
|
NM_000334.4(SCN4A):c.3145-5C>A
|
rs750109872
|
0.00001
|
NM_000334.4(SCN4A):c.3204C>T (p.Ala1068=)
|
rs780229549
|
0.00001
|
NM_000334.4(SCN4A):c.3228C>T (p.Phe1076=)
|
rs939978015
|
0.00001
|
NM_000334.4(SCN4A):c.3261C>T (p.Tyr1087=)
|
rs534552884
|
0.00001
|
NM_000334.4(SCN4A):c.3318+14C>T
|
rs199864927
|
0.00001
|
NM_000334.4(SCN4A):c.337C>T (p.Leu113=)
|
rs553234696
|
0.00001
|
NM_000334.4(SCN4A):c.3390A>G (p.Thr1130=)
|
rs774845449
|
0.00001
|
NM_000334.4(SCN4A):c.3453C>T (p.Asn1151=)
|
rs768187283
|
0.00001
|
NM_000334.4(SCN4A):c.345C>T (p.Ser115=)
|
rs1909641231
|
0.00001
|
NM_000334.4(SCN4A):c.3604G>A (p.Glu1202Lys)
|
rs201916531
|
0.00001
|
NM_000334.4(SCN4A):c.3618G>A (p.Lys1206=)
|
rs757658622
|
0.00001
|
NM_000334.4(SCN4A):c.3642C>T (p.His1214=)
|
rs577108088
|
0.00001
|
NM_000334.4(SCN4A):c.3678C>T (p.Asn1226=)
|
rs1218404418
|
0.00001
|
NM_000334.4(SCN4A):c.3720+20C>A
|
rs1187897404
|
0.00001
|
NM_000334.4(SCN4A):c.3720+7G>A
|
rs553870552
|
0.00001
|
NM_000334.4(SCN4A):c.3775-12T>C
|
rs1191297022
|
0.00001
|
NM_000334.4(SCN4A):c.3775-5C>T
|
rs777201502
|
0.00001
|
NM_000334.4(SCN4A):c.3858C>T (p.Thr1286=)
|
rs538933926
|
0.00001
|
NM_000334.4(SCN4A):c.393-4C>A
|
rs958817327
|
0.00001
|
NM_000334.4(SCN4A):c.3963C>T (p.Asn1321=)
|
rs747602881
|
0.00001
|
NM_000334.4(SCN4A):c.4017+8C>T
|
rs201269475
|
0.00001
|
NM_000334.4(SCN4A):c.4053G>A (p.Thr1351=)
|
rs376395544
|
0.00001
|
NM_000334.4(SCN4A):c.4200C>T (p.Cys1400=)
|
rs760454638
|
0.00001
|
NM_000334.4(SCN4A):c.4218C>G (p.Ala1406=)
|
rs770836153
|
0.00001
|
NM_000334.4(SCN4A):c.4239C>T (p.Thr1413=)
|
rs779956632
|
0.00001
|
NM_000334.4(SCN4A):c.4266G>A (p.Val1422=)
|
rs1908587559
|
0.00001
|
NM_000334.4(SCN4A):c.4269C>T (p.Val1423=)
|
rs757880810
|
0.00001
|
NM_000334.4(SCN4A):c.4288+15C>A
|
rs1006841428
|
0.00001
|
NM_000334.4(SCN4A):c.4289-5C>T
|
rs1396119458
|
0.00001
|
NM_000334.4(SCN4A):c.4389C>T (p.Arg1463=)
|
rs763124097
|
0.00001
|
NM_000334.4(SCN4A):c.4398G>A (p.Lys1466=)
|
rs1384075799
|
0.00001
|
NM_000334.4(SCN4A):c.4416G>A (p.Leu1472=)
|
rs758113478
|
0.00001
|
NM_000334.4(SCN4A):c.4497C>T (p.Phe1499=)
|
rs572237501
|
0.00001
|
NM_000334.4(SCN4A):c.4590C>T (p.Phe1530=)
|
rs199824534
|
0.00001
|
NM_000334.4(SCN4A):c.4608C>T (p.Ala1536=)
|
rs764476134
|
0.00001
|
NM_000334.4(SCN4A):c.4617C>T (p.Asp1539=)
|
rs772431686
|
0.00001
|
NM_000334.4(SCN4A):c.4667A>G (p.Asn1556Ser)
|
rs751454852
|
0.00001
|
NM_000334.4(SCN4A):c.4782C>T (p.Ile1594=)
|
rs190975011
|
0.00001
|
NM_000334.4(SCN4A):c.4783G>A (p.Ala1595Thr)
|
rs761947899
|
0.00001
|
NM_000334.4(SCN4A):c.483-20G>A
|
rs771069029
|
0.00001
|
NM_000334.4(SCN4A):c.4863C>T (p.Tyr1621=)
|
rs769625349
|
0.00001
|
NM_000334.4(SCN4A):c.4887C>T (p.Pro1629=)
|
rs756370516
|
0.00001
|
NM_000334.4(SCN4A):c.4890C>T (p.Asp1630=)
|
rs781276397
|
0.00001
|
NM_000334.4(SCN4A):c.48C>T (p.Cys16=)
|
rs765207978
|
0.00001
|
NM_000334.4(SCN4A):c.4950G>A (p.Pro1650=)
|
rs375995481
|
0.00001
|
NM_000334.4(SCN4A):c.4971C>T (p.Asn1657=)
|
rs1307196671
|
0.00001
|
NM_000334.4(SCN4A):c.4983C>T (p.Leu1661=)
|
rs1908520604
|
0.00001
|
NM_000334.4(SCN4A):c.4995C>T (p.Asp1665=)
|
rs750776495
|
0.00001
|
NM_000334.4(SCN4A):c.5000C>T (p.Pro1667Leu)
|
rs765721076
|
0.00001
|
NM_000334.4(SCN4A):c.5148G>A (p.Glu1716=)
|
rs1244264430
|
0.00001
|
NM_000334.4(SCN4A):c.5283C>T (p.Ser1761=)
|
rs766569872
|
0.00001
|
NM_000334.4(SCN4A):c.5293G>A (p.Ala1765Thr)
|
rs531694454
|
0.00001
|
NM_000334.4(SCN4A):c.5346C>T (p.His1782=)
|
rs1567815713
|
0.00001
|
NM_000334.4(SCN4A):c.5352T>C (p.Asn1784=)
|
rs374079457
|
0.00001
|
NM_000334.4(SCN4A):c.5376G>A (p.Pro1792=)
|
rs765644422
|
0.00001
|
NM_000334.4(SCN4A):c.5394A>G (p.Ala1798=)
|
rs916993526
|
0.00001
|
NM_000334.4(SCN4A):c.5457C>T (p.Pro1819=)
|
rs761023866
|
0.00001
|
NM_000334.4(SCN4A):c.54C>T (p.Arg18=)
|
rs775998468
|
0.00001
|
NM_000334.4(SCN4A):c.611+19A>G
|
rs771766927
|
0.00001
|
NM_000334.4(SCN4A):c.612-17C>T
|
rs1445520678
|
0.00001
|
NM_000334.4(SCN4A):c.703+18G>A
|
rs561981114
|
0.00001
|
NM_000334.4(SCN4A):c.704-10C>T
|
rs1909520562
|
0.00001
|
NM_000334.4(SCN4A):c.786C>T (p.Ser262=)
|
rs746749167
|
0.00001
|
NM_000334.4(SCN4A):c.810G>A (p.Gln270=)
|
rs755446880
|
0.00001
|
NM_000334.4(SCN4A):c.858G>A (p.Pro286=)
|
rs560230431
|
0.00001
|
NM_000891.3(KCNJ2):c.1083A>G (p.Leu361=)
|
rs767166881
|
0.00001
|
NM_000891.3(KCNJ2):c.1104C>T (p.Leu368=)
|
rs753839703
|
0.00001
|
NM_000891.3(KCNJ2):c.1212T>C (p.Pro404=)
|
rs763917912
|
0.00001
|
NM_000891.3(KCNJ2):c.1275G>A (p.Ser425=)
|
rs555386610
|
0.00001
|
NM_000891.3(KCNJ2):c.138C>T (p.Arg46=)
|
rs997406384
|
0.00001
|
NM_000891.3(KCNJ2):c.219C>T (p.Phe73=)
|
rs1434901464
|
0.00001
|
NM_000891.3(KCNJ2):c.222C>T (p.Thr74=)
|
rs1053161336
|
0.00001
|
NM_000891.3(KCNJ2):c.24C>T (p.Arg8=)
|
rs550697411
|
0.00001
|
NM_000891.3(KCNJ2):c.261C>T (p.Ile87=)
|
rs1166497262
|
0.00001
|
NM_000891.3(KCNJ2):c.276C>T (p.Phe92=)
|
rs556248547
|
0.00001
|
NM_000891.3(KCNJ2):c.279C>T (p.Val93=)
|
rs767566718
|
0.00001
|
NM_000891.3(KCNJ2):c.303T>C (p.Cys101=)
|
rs376921497
|
0.00001
|
NM_000891.3(KCNJ2):c.387C>T (p.Phe129=)
|
rs1402832714
|
0.00001
|
NM_000891.3(KCNJ2):c.390G>A (p.Thr130=)
|
rs745672560
|
0.00001
|
NM_000891.3(KCNJ2):c.435T>C (p.Tyr145=)
|
rs773185250
|
0.00001
|
NM_000891.3(KCNJ2):c.453G>A (p.Thr151=)
|
rs751862699
|
0.00001
|
NM_000891.3(KCNJ2):c.465A>G (p.Pro155=)
|
rs759879267
|
0.00001
|
NM_000891.3(KCNJ2):c.498C>T (p.Ile166=)
|
rs142049682
|
0.00001
|
NM_000891.3(KCNJ2):c.579T>G (p.Leu193=)
|
rs773272852
|
0.00001
|
NM_000891.3(KCNJ2):c.675T>C (p.Ala225=)
|
rs201850260
|
0.00001
|
NM_000891.3(KCNJ2):c.678T>C (p.His226=)
|
rs559935671
|
0.00001
|
NM_000891.3(KCNJ2):c.687A>G (p.Ala229=)
|
rs1276042254
|
0.00001
|
NM_000891.3(KCNJ2):c.750C>A (p.Ile250=)
|
rs886039094
|
0.00001
|
NM_000891.3(KCNJ2):c.75A>C (p.Ala25=)
|
rs1217136489
|
0.00001
|
NM_000891.3(KCNJ2):c.81A>C (p.Ala27=)
|
rs2074384649
|
0.00001
|
NM_000891.3(KCNJ2):c.87C>T (p.Gly29=)
|
rs1027878057
|
0.00001
|
NM_000891.3(KCNJ2):c.924G>A (p.Thr308=)
|
rs1441547463
|
0.00001
|
NM_000891.3(KCNJ2):c.945T>C (p.Tyr315=)
|
rs2074390355
|
0.00001
|
NM_000891.3(KCNJ2):c.984T>C (p.Pro328=)
|
rs905657549
|
0.00001
|
NM_000891.3(KCNJ2):c.99G>A (p.Gly33=)
|
rs769513425
|
0.00001
|
NM_000891.3(KCNJ2):c.9T>C (p.Ser3=)
|
rs1598210962
|
0.00001
|
NM_000069.2(CACNA1S):c.-110C>T
|
rs529955487
|
|
NM_000069.2(CACNA1S):c.-213G>A
|
rs536755317
|
|
NM_000069.3(CACNA1S):c.1005-12A>G
|
|
|
NM_000069.3(CACNA1S):c.1005-19C>G
|
rs749844659
|
|
NM_000069.3(CACNA1S):c.1005-5T>C
|
|
|
NM_000069.3(CACNA1S):c.100C>T (p.Leu34=)
|
|
|
NM_000069.3(CACNA1S):c.1022G>A (p.Arg341Gln)
|
|
|
NM_000069.3(CACNA1S):c.1035G>A (p.Lys345=)
|
|
|
NM_000069.3(CACNA1S):c.1047C>T (p.Thr349=)
|
rs542505383
|
|
NM_000069.3(CACNA1S):c.1062G>A (p.Arg354=)
|
rs2102154929
|
|
NM_000069.3(CACNA1S):c.108G>C (p.Leu36=)
|
rs1572080659
|
|
NM_000069.3(CACNA1S):c.1090C>T (p.Arg364Trp)
|
|
|
NM_000069.3(CACNA1S):c.1092G>C (p.Arg364=)
|
rs763965450
|
|
NM_000069.3(CACNA1S):c.1119C>A (p.Gly373=)
|
rs777414745
|
|
NM_000069.3(CACNA1S):c.111G>A (p.Glu37=)
|
|
|
NM_000069.3(CACNA1S):c.1150+15G>C
|
|
|
NM_000069.3(CACNA1S):c.1150+9C>T
|
rs2102154694
|
|
NM_000069.3(CACNA1S):c.1151-11C>T
|
rs1466916514
|
|
NM_000069.3(CACNA1S):c.1151-13C>A
|
rs200273802
|
|
NM_000069.3(CACNA1S):c.1151-13C>G
|
|
|
NM_000069.3(CACNA1S):c.1158G>A (p.Leu386=)
|
|
|
NM_000069.3(CACNA1S):c.1206A>G (p.Ala402=)
|
rs1572056464
|
|
NM_000069.3(CACNA1S):c.1214A>G (p.Asn405Ser)
|
|
|
NM_000069.3(CACNA1S):c.1232+11G>T
|
|
|
NM_000069.3(CACNA1S):c.1232+13C>T
|
|
|
NM_000069.3(CACNA1S):c.1232+18G>C
|
|
|
NM_000069.3(CACNA1S):c.1232+20C>T
|
|
|
NM_000069.3(CACNA1S):c.1233-18C>T
|
|
|
NM_000069.3(CACNA1S):c.1233-20T>G
|
|
|
NM_000069.3(CACNA1S):c.1233-4T>A
|
rs756624763
|
|
NM_000069.3(CACNA1S):c.1233-5C>T
|
|
|
NM_000069.3(CACNA1S):c.1233-6C>T
|
rs2102151894
|
|
NM_000069.3(CACNA1S):c.1239T>C (p.His413=)
|
rs762629952
|
|
NM_000069.3(CACNA1S):c.1250G>C (p.Trp417Ser)
|
|
|
NM_000069.3(CACNA1S):c.126G>A (p.Lys42=)
|
|
|
NM_000069.3(CACNA1S):c.1282A>T (p.Ile428Phe)
|
|
|
NM_000069.3(CACNA1S):c.1294A>G (p.Lys432Glu)
|
|
|
NM_000069.3(CACNA1S):c.12C>T (p.Ser4=)
|
rs1448450110
|
|
NM_000069.3(CACNA1S):c.1347C>A (p.Ile449=)
|
rs754689047
|
|
NM_000069.3(CACNA1S):c.1350C>T (p.Ala450=)
|
rs1558075481
|
|
NM_000069.3(CACNA1S):c.1371T>A (p.Pro457=)
|
rs12742170
|
|
NM_000069.3(CACNA1S):c.1380G>C (p.Leu460=)
|
|
|
NM_000069.3(CACNA1S):c.1382C>A (p.Thr461Asn)
|
rs143202536
|
|
NM_000069.3(CACNA1S):c.1393+11A>G
|
rs753604199
|
|
NM_000069.3(CACNA1S):c.1393+12C>T
|
|
|
NM_000069.3(CACNA1S):c.1393+9G>A
|
|
|
NM_000069.3(CACNA1S):c.1394-4A>G
|
|
|
NM_000069.3(CACNA1S):c.1394-8C>A
|
rs375250339
|
|
NM_000069.3(CACNA1S):c.1394-8C>T
|
rs375250339
|
|
NM_000069.3(CACNA1S):c.1407G>T (p.Arg469=)
|
|
|
NM_000069.3(CACNA1S):c.140T>C (p.Ile47Thr)
|
rs372497364
|
|
NM_000069.3(CACNA1S):c.1410G>A (p.Val470=)
|
rs1661698305
|
|
NM_000069.3(CACNA1S):c.1410G>C (p.Val470=)
|
|
|
NM_000069.3(CACNA1S):c.1411C>T (p.Leu471=)
|
rs146389514
|
|
NM_000069.3(CACNA1S):c.1416G>A (p.Leu472=)
|
|
|
NM_000069.3(CACNA1S):c.1422C>T (p.Leu474=)
|
rs2102144398
|
|
NM_000069.3(CACNA1S):c.1440G>A (p.Leu480=)
|
|
|
NM_000069.3(CACNA1S):c.1446G>A (p.Lys482=)
|
rs1558072779
|
|
NM_000069.3(CACNA1S):c.1455G>T (p.Gly485=)
|
|
|
NM_000069.3(CACNA1S):c.1470G>A (p.Gln490=)
|
rs373712202
|
|
NM_000069.3(CACNA1S):c.1493G>T (p.Arg498Leu)
|
rs150590855
|
|
NM_000069.3(CACNA1S):c.1509G>C (p.Val503=)
|
|
|
NM_000069.3(CACNA1S):c.152+14C>T
|
rs201285556
|
|
NM_000069.3(CACNA1S):c.152+16C>T
|
|
|
NM_000069.3(CACNA1S):c.152+17G>A
|
rs113558244
|
|
NM_000069.3(CACNA1S):c.152+7T>C
|
|
|
NM_000069.3(CACNA1S):c.153-18C>T
|
|
|
NM_000069.3(CACNA1S):c.153-20C>T
|
|
|
NM_000069.3(CACNA1S):c.1536G>T (p.Leu512=)
|
rs1490665418
|
|
NM_000069.3(CACNA1S):c.1542G>A (p.Val514=)
|
|
|
NM_000069.3(CACNA1S):c.1547C>T (p.Ser516Leu)
|
rs140662085
|
|
NM_000069.3(CACNA1S):c.1563C>A (p.Pro521=)
|
rs775975526
|
|
NM_000069.3(CACNA1S):c.1575C>G (p.Ser525=)
|
rs771788360
|
|
NM_000069.3(CACNA1S):c.1575C>T (p.Ser525=)
|
rs771788360
|
|
NM_000069.3(CACNA1S):c.1596C>T (p.Leu532=)
|
|
|
NM_000069.3(CACNA1S):c.159C>T (p.Phe53=)
|
rs199720439
|
|
NM_000069.3(CACNA1S):c.1602G>A (p.Arg534=)
|
|
|
NM_000069.3(CACNA1S):c.1614C>T (p.Ile538=)
|
rs2102143850
|
|
NM_000069.3(CACNA1S):c.1619+10G>T
|
rs374195664
|
|
NM_000069.3(CACNA1S):c.1619+11G>A
|
|
|
NM_000069.3(CACNA1S):c.1619+15C>A
|
rs771698501
|
|
NM_000069.3(CACNA1S):c.1619+9C>G
|
rs372942667
|
|
NM_000069.3(CACNA1S):c.1620-12C>A
|
|
|
NM_000069.3(CACNA1S):c.1620-12C>T
|
|
|
NM_000069.3(CACNA1S):c.1620-15C>T
|
|
|
NM_000069.3(CACNA1S):c.1620-17G>A
|
|
|
NM_000069.3(CACNA1S):c.1620-4T>G
|
rs2102142727
|
|
NM_000069.3(CACNA1S):c.1623T>C (p.Tyr541=)
|
|
|
NM_000069.3(CACNA1S):c.1629G>A (p.Thr543=)
|
rs143999390
|
|
NM_000069.3(CACNA1S):c.1629G>T (p.Thr543=)
|
rs143999390
|
|
NM_000069.3(CACNA1S):c.1642C>T (p.Leu548=)
|
rs940478189
|
|
NM_000069.3(CACNA1S):c.164C>T (p.Thr55Met)
|
rs549107212
|
|
NM_000069.3(CACNA1S):c.165G>C (p.Thr55=)
|
rs150520884
|
|
NM_000069.3(CACNA1S):c.1684C>T (p.Leu562=)
|
|
|
NM_000069.3(CACNA1S):c.1698C>T (p.Leu566=)
|
|
|
NM_000069.3(CACNA1S):c.1704C>G (p.Leu568=)
|
|
|
NM_000069.3(CACNA1S):c.1710C>T (p.Ile570=)
|
|
|
NM_000069.3(CACNA1S):c.1713C>T (p.Val571=)
|
|
|
NM_000069.3(CACNA1S):c.1720G>A (p.Ala574Thr)
|
|
|
NM_000069.3(CACNA1S):c.1728G>A (p.Leu576=)
|
|
|
NM_000069.3(CACNA1S):c.1749G>A (p.Gly583=)
|
|
|
NM_000069.3(CACNA1S):c.1750A>C (p.Arg584=)
|
rs2102142393
|
|
NM_000069.3(CACNA1S):c.1752G>A (p.Arg584=)
|
|
|
NM_000069.3(CACNA1S):c.1779G>A (p.Arg593=)
|
|
|
NM_000069.3(CACNA1S):c.177C>T (p.Leu59=)
|
|
|
NM_000069.3(CACNA1S):c.1781G>T (p.Arg594Leu)
|
rs762032797
|
|
NM_000069.3(CACNA1S):c.1813A>G (p.Ile605Val)
|
rs550246898
|
|
NM_000069.3(CACNA1S):c.181A>G (p.Ile61Val)
|
|
|
NM_000069.3(CACNA1S):c.1827+10C>T
|
|
|
NM_000069.3(CACNA1S):c.1827+11C>T
|
|
|
NM_000069.3(CACNA1S):c.1827+16G>A
|
|
|
NM_000069.3(CACNA1S):c.1827+8C>T
|
|
|
NM_000069.3(CACNA1S):c.1828-14C>T
|
|
|
NM_000069.3(CACNA1S):c.1828-18T>C
|
|
|
NM_000069.3(CACNA1S):c.1830A>G (p.Val610=)
|
rs1479771505
|
|
NM_000069.3(CACNA1S):c.1839G>A (p.Gly613=)
|
|
|
NM_000069.3(CACNA1S):c.183C>A (p.Ile61=)
|
|
|
NM_000069.3(CACNA1S):c.1866T>C (p.Asn622=)
|
rs1572048185
|
|
NM_000069.3(CACNA1S):c.1873A>G (p.Met625Val)
|
|
|
NM_000069.3(CACNA1S):c.1884C>G (p.Gly628=)
|
rs200743095
|
|
NM_000069.3(CACNA1S):c.1884C>T (p.Gly628=)
|
rs200743095
|
|
NM_000069.3(CACNA1S):c.1887G>T (p.Gly629=)
|
|
|
NM_000069.3(CACNA1S):c.1889C>T (p.Pro630Leu)
|
|
|
NM_000069.3(CACNA1S):c.1902C>T (p.Gly634=)
|
|
|
NM_000069.3(CACNA1S):c.1904T>A (p.Met635Lys)
|
rs144590408
|
|
NM_000069.3(CACNA1S):c.1920C>T (p.Tyr640=)
|
|
|
NM_000069.3(CACNA1S):c.1944C>T (p.Gly648=)
|
|
|
NM_000069.3(CACNA1S):c.1948+10C>T
|
rs201173419
|
|
NM_000069.3(CACNA1S):c.1948+15G>A
|
|
|
NM_000069.3(CACNA1S):c.1948+17A>T
|
|
|
NM_000069.3(CACNA1S):c.1949-5C>T
|
|
|
NM_000069.3(CACNA1S):c.1949-8C>T
|
|
|
NM_000069.3(CACNA1S):c.1953C>A (p.Ile651=)
|
|
|
NM_000069.3(CACNA1S):c.1953C>T (p.Ile651=)
|
|
|
NM_000069.3(CACNA1S):c.1959C>T (p.Leu653=)
|
rs1414491241
|
|
NM_000069.3(CACNA1S):c.1980C>T (p.Ala660=)
|
|
|
NM_000069.3(CACNA1S):c.1983G>A (p.Val661=)
|
|
|
NM_000069.3(CACNA1S):c.1995C>G (p.Ala665=)
|
|
|
NM_000069.3(CACNA1S):c.2028C>A (p.Ala676=)
|
rs2102138464
|
|
NM_000069.3(CACNA1S):c.2034T>A (p.Ala678=)
|
|
|
NM_000069.3(CACNA1S):c.2046A>G (p.Lys682=)
|
rs2102138419
|
|
NM_000069.3(CACNA1S):c.2063+10del
|
rs2102138348
|
|
NM_000069.3(CACNA1S):c.2063+12C>A
|
|
|
NM_000069.3(CACNA1S):c.2063+19G>A
|
rs1200890823
|
|
NM_000069.3(CACNA1S):c.2064-15G>A
|
|
|
NM_000069.3(CACNA1S):c.2067T>G (p.Gly689=)
|
rs1250186184
|
|
NM_000069.3(CACNA1S):c.2079G>A (p.Lys693=)
|
|
|
NM_000069.3(CACNA1S):c.2100G>C (p.Thr700=)
|
rs774160640
|
|
NM_000069.3(CACNA1S):c.2157+11C>T
|
|
|
NM_000069.3(CACNA1S):c.2157+20A>T
|
|
|
NM_000069.3(CACNA1S):c.2158-16del
|
|
|
NM_000069.3(CACNA1S):c.2158-7C>T
|
|
|
NM_000069.3(CACNA1S):c.216G>C (p.Leu72=)
|
rs754538534
|
|
NM_000069.3(CACNA1S):c.2214A>C (p.Ser738=)
|
|
|
NM_000069.3(CACNA1S):c.2223C>T (p.Phe741=)
|
|
|
NM_000069.3(CACNA1S):c.2227+10C>T
|
rs2102135793
|
|
NM_000069.3(CACNA1S):c.2227+11T>C
|
|
|
NM_000069.3(CACNA1S):c.2228-10C>T
|
|
|
NM_000069.3(CACNA1S):c.2228-13del
|
|
|
NM_000069.3(CACNA1S):c.2228-14C>G
|
|
|
NM_000069.3(CACNA1S):c.2228-14C>T
|
|
|
NM_000069.3(CACNA1S):c.2228-16C>G
|
|
|
NM_000069.3(CACNA1S):c.2228-4A>G
|
rs1572043441
|
|
NM_000069.3(CACNA1S):c.2258C>T (p.Pro753Leu)
|
|
|
NM_000069.3(CACNA1S):c.2259G>C (p.Pro753=)
|
rs200971359
|
|
NM_000069.3(CACNA1S):c.2262G>A (p.Leu754=)
|
rs1572043391
|
|
NM_000069.3(CACNA1S):c.2265C>T (p.Ser755=)
|
|
|
NM_000069.3(CACNA1S):c.2270G>A (p.Arg757Gln)
|
rs868409473
|
|
NM_000069.3(CACNA1S):c.2311G>A (p.Val771Met)
|
|
|
NM_000069.3(CACNA1S):c.2325A>G (p.Glu775=)
|
rs2102132493
|
|
NM_000069.3(CACNA1S):c.2331C>T (p.Ser777=)
|
rs749013125
|
|
NM_000069.3(CACNA1S):c.2349C>T (p.Ser783=)
|
rs1572043239
|
|
NM_000069.3(CACNA1S):c.2355C>A (p.Thr785=)
|
|
|
NM_000069.3(CACNA1S):c.2360+10C>T
|
|
|
NM_000069.3(CACNA1S):c.2360+9C>T
|
|
|
NM_000069.3(CACNA1S):c.2361-4C>T
|
rs1187060651
|
|
NM_000069.3(CACNA1S):c.237C>G (p.Asn79Lys)
|
|
|
NM_000069.3(CACNA1S):c.2385C>A (p.Ile795=)
|
|
|
NM_000069.3(CACNA1S):c.2412C>T (p.Phe804=)
|
|
|
NM_000069.3(CACNA1S):c.2416C>T (p.Leu806=)
|
|
|
NM_000069.3(CACNA1S):c.2418G>C (p.Leu806=)
|
rs182634146
|
|
NM_000069.3(CACNA1S):c.2421C>T (p.Leu807=)
|
|
|
NM_000069.3(CACNA1S):c.2428C>T (p.Leu810=)
|
|
|
NM_000069.3(CACNA1S):c.2463C>T (p.Pro821=)
|
|
|
NM_000069.3(CACNA1S):c.2479A>G (p.Met827Val)
|
|
|
NM_000069.3(CACNA1S):c.2491-12C>T
|
|
|
NM_000069.3(CACNA1S):c.2491-13G>A
|
rs750836806
|
|
NM_000069.3(CACNA1S):c.2491-17C>A
|
|
|
NM_000069.3(CACNA1S):c.2491-19G>A
|
|
|
NM_000069.3(CACNA1S):c.2491-19G>T
|
|
|
NM_000069.3(CACNA1S):c.2491-6C>T
|
|
|
NM_000069.3(CACNA1S):c.2505T>C (p.Phe835=)
|
rs1057524226
|
|
NM_000069.3(CACNA1S):c.2511C>T (p.Ile837=)
|
rs764647345
|
|
NM_000069.3(CACNA1S):c.2550+11G>C
|
|
|
NM_000069.3(CACNA1S):c.2550+13T>C
|
|
|
NM_000069.3(CACNA1S):c.2550+15T>C
|
|
|
NM_000069.3(CACNA1S):c.2550+16G>A
|
|
|
NM_000069.3(CACNA1S):c.2550+7G>A
|
|
|
NM_000069.3(CACNA1S):c.258+17C>T
|
|
|
NM_000069.3(CACNA1S):c.259-4A>C
|
rs367999059
|
|
NM_000069.3(CACNA1S):c.259-6C>T
|
|
|
NM_000069.3(CACNA1S):c.2613G>T (p.Leu871=)
|
rs770064983
|
|
NM_000069.3(CACNA1S):c.2622G>T (p.Leu874=)
|
rs1572040066
|
|
NM_000069.3(CACNA1S):c.2628G>A (p.Val876=)
|
rs200898535
|
|
NM_000069.3(CACNA1S):c.2635T>C (p.Ser879Pro)
|
|
|
NM_000069.3(CACNA1S):c.2646C>T (p.Ser882=)
|
|
|
NM_000069.3(CACNA1S):c.2647A>C (p.Met883Leu)
|
rs553593355
|
|
NM_000069.3(CACNA1S):c.2652A>G (p.Gly884=)
|
|
|
NM_000069.3(CACNA1S):c.2657+10G>C
|
|
|
NM_000069.3(CACNA1S):c.2658-16C>T
|
|
|
NM_000069.3(CACNA1S):c.2658-8C>T
|
|
|
NM_000069.3(CACNA1S):c.267G>A (p.Leu89=)
|
|
|
NM_000069.3(CACNA1S):c.2694G>T (p.Val898=)
|
rs1553250516
|
|
NM_000069.3(CACNA1S):c.2695C>T (p.Leu899=)
|
rs1336743984
|
|
NM_000069.3(CACNA1S):c.2745+12C>T
|
|
|
NM_000069.3(CACNA1S):c.2745+15G>A
|
|
|
NM_000069.3(CACNA1S):c.2745+15G>C
|
|
|
NM_000069.3(CACNA1S):c.2745+16G>A
|
|
|
NM_000069.3(CACNA1S):c.2745+9G>A
|
rs1183235159
|
|
NM_000069.3(CACNA1S):c.2746-16G>A
|
rs531717137
|
|
NM_000069.3(CACNA1S):c.2746-17_2746-14dup
|
rs2102582037
|
|
NM_000069.3(CACNA1S):c.2746-19T>C
|
|
|
NM_000069.3(CACNA1S):c.2746-4C>T
|
rs750533608
|
|
NM_000069.3(CACNA1S):c.2746-8G>A
|
rs1572039133
|
|
NM_000069.3(CACNA1S):c.2775C>T (p.Ile925=)
|
rs2102581879
|
|
NM_000069.3(CACNA1S):c.2793C>T (p.Ile931=)
|
|
|
NM_000069.3(CACNA1S):c.2808C>T (p.Thr936=)
|
|
|
NM_000069.3(CACNA1S):c.2812C>T (p.Leu938=)
|
|
|
NM_000069.3(CACNA1S):c.2814A>G (p.Leu938=)
|
|
|
NM_000069.3(CACNA1S):c.2829C>T (p.Ala943=)
|
|
|
NM_000069.3(CACNA1S):c.2841C>A (p.Val947=)
|
|
|
NM_000069.3(CACNA1S):c.2847C>T (p.Leu949=)
|
|
|
NM_000069.3(CACNA1S):c.2850C>T (p.Phe950=)
|
|
|
NM_000069.3(CACNA1S):c.2853+17G>A
|
|
|
NM_000069.3(CACNA1S):c.2853+19G>A
|
|
|
NM_000069.3(CACNA1S):c.2854-11_2854-10del
|
rs780065077
|
|
NM_000069.3(CACNA1S):c.2854-33CCTC[6]
|
rs747117832
|
|
NM_000069.3(CACNA1S):c.2854-33CCTC[7]
|
|
|
NM_000069.3(CACNA1S):c.2854-4G>T
|
rs1421864888
|
|
NM_000069.3(CACNA1S):c.2875G>A (p.Asp959Asn)
|
|
|
NM_000069.3(CACNA1S):c.2892A>G (p.Thr964=)
|
rs1181877748
|
|
NM_000069.3(CACNA1S):c.2906+12A>G
|
|
|
NM_000069.3(CACNA1S):c.2906+17G>C
|
|
|
NM_000069.3(CACNA1S):c.2906+18C>A
|
|
|
NM_000069.3(CACNA1S):c.2907-5C>T
|
|
|
NM_000069.3(CACNA1S):c.2907-9C>T
|
|
|
NM_000069.3(CACNA1S):c.2920G>A (p.Val974Met)
|
rs757840865
|
|
NM_000069.3(CACNA1S):c.2945A>C (p.Gln982Pro)
|
|
|
NM_000069.3(CACNA1S):c.2952G>A (p.Glu984=)
|
rs1553250091
|
|
NM_000069.3(CACNA1S):c.2955G>A (p.Leu985=)
|
|
|
NM_000069.3(CACNA1S):c.2964C>T (p.Arg988=)
|
|
|
NM_000069.3(CACNA1S):c.2979C>T (p.Ser993=)
|
rs146497999
|
|
NM_000069.3(CACNA1S):c.297T>C (p.Ile99=)
|
rs202132932
|
|
NM_000069.3(CACNA1S):c.2980G>A (p.Asp994Asn)
|
|
|
NM_000069.3(CACNA1S):c.2988C>T (p.His996=)
|
|
|
NM_000069.3(CACNA1S):c.2991C>T (p.Phe997=)
|
|
|
NM_000069.3(CACNA1S):c.3027G>T (p.Thr1009=)
|
|
|
NM_000069.3(CACNA1S):c.3043G>A (p.Gly1015Arg)
|
|
|
NM_000069.3(CACNA1S):c.3051T>C (p.Pro1017=)
|
|
|
NM_000069.3(CACNA1S):c.3053+11G>A
|
|
|
NM_000069.3(CACNA1S):c.3054-16C>G
|
|
|
NM_000069.3(CACNA1S):c.3054-16C>T
|
|
|
NM_000069.3(CACNA1S):c.3054-8del
|
|
|
NM_000069.3(CACNA1S):c.3054-9C>T
|
|
|
NM_000069.3(CACNA1S):c.3057G>A (p.Leu1019=)
|
|
|
NM_000069.3(CACNA1S):c.3057G>C (p.Leu1019=)
|
|
|
NM_000069.3(CACNA1S):c.3071T>C (p.Ile1024Thr)
|
rs978624647
|
|
NM_000069.3(CACNA1S):c.3083C>T (p.Ala1028Val)
|
rs751604155
|
|
NM_000069.3(CACNA1S):c.3108C>T (p.Asn1036=)
|
rs773482623
|
|
NM_000069.3(CACNA1S):c.3112C>T (p.Arg1038Cys)
|
|
|
NM_000069.3(CACNA1S):c.3141C>T (p.Ile1047=)
|
|
|
NM_000069.3(CACNA1S):c.3159C>T (p.Ala1053=)
|
|
|
NM_000069.3(CACNA1S):c.3177C>T (p.Ile1059=)
|
rs1553249999
|
|
NM_000069.3(CACNA1S):c.3219G>A (p.Glu1073=)
|
|
|
NM_000069.3(CACNA1S):c.3225G>A (p.Glu1075=)
|
|
|
NM_000069.3(CACNA1S):c.3255+10C>T
|
rs1572035084
|
|
NM_000069.3(CACNA1S):c.3256-13G>T
|
|
|
NM_000069.3(CACNA1S):c.3256-16G>A
|
|
|
NM_000069.3(CACNA1S):c.3270G>A (p.Gln1090=)
|
|
|
NM_000069.3(CACNA1S):c.3285C>A (p.Ala1095=)
|
|
|
NM_000069.3(CACNA1S):c.3288C>A (p.Arg1096=)
|
|
|
NM_000069.3(CACNA1S):c.3294G>A (p.Leu1098=)
|
|
|
NM_000069.3(CACNA1S):c.32T>G (p.Leu11Arg)
|
|
|
NM_000069.3(CACNA1S):c.3348C>T (p.Thr1116=)
|
rs2102573526
|
|
NM_000069.3(CACNA1S):c.3357C>T (p.Tyr1119=)
|
|
|
NM_000069.3(CACNA1S):c.3369G>A (p.Leu1123=)
|
rs535424694
|
|
NM_000069.3(CACNA1S):c.336C>T (p.Phe112=)
|
|
|
NM_000069.3(CACNA1S):c.33G>A (p.Leu11=)
|
|
|
NM_000069.3(CACNA1S):c.3414+17A>G
|
|
|
NM_000069.3(CACNA1S):c.3414+8C>T
|
|
|
NM_000069.3(CACNA1S):c.3423C>T (p.Asn1141=)
|
|
|
NM_000069.3(CACNA1S):c.3425A>G (p.Gln1142Arg)
|
rs139373152
|
|
NM_000069.3(CACNA1S):c.3440A>G (p.Asn1147Ser)
|
|
|
NM_000069.3(CACNA1S):c.3447C>T (p.Ile1149=)
|
rs763544900
|
|
NM_000069.3(CACNA1S):c.3453C>T (p.Asp1151=)
|
rs2102571362
|
|
NM_000069.3(CACNA1S):c.3456C>T (p.Ile1152=)
|
rs2102571355
|
|
NM_000069.3(CACNA1S):c.3459C>T (p.Leu1153=)
|
|
|
NM_000069.3(CACNA1S):c.3468C>G (p.Ala1156=)
|
|
|
NM_000069.3(CACNA1S):c.3483C>T (p.Phe1161=)
|
|
|
NM_000069.3(CACNA1S):c.3510G>A (p.Met1170Ile)
|
|
|
NM_000069.3(CACNA1S):c.3513C>T (p.Ala1171=)
|
|
|
NM_000069.3(CACNA1S):c.3525+19G>C
|
|
|
NM_000069.3(CACNA1S):c.3525+19G>T
|
|
|
NM_000069.3(CACNA1S):c.3526-13T>A
|
rs1660927487
|
|
NM_000069.3(CACNA1S):c.3526-5C>T
|
|
|
NM_000069.3(CACNA1S):c.3526-7T>G
|
rs2102570172
|
|
NM_000069.3(CACNA1S):c.352C>T (p.Leu118=)
|
rs2102167456
|
|
NM_000069.3(CACNA1S):c.3537A>G (p.Gly1179=)
|
rs2102570132
|
|
NM_000069.3(CACNA1S):c.3540C>T (p.Asp1180=)
|
rs2102570120
|
|
NM_000069.3(CACNA1S):c.3564G>A (p.Leu1188=)
|
rs781739099
|
|
NM_000069.3(CACNA1S):c.3582C>T (p.Ile1194=)
|
|
|
NM_000069.3(CACNA1S):c.3585T>C (p.Ile1195=)
|
rs1572033019
|
|
NM_000069.3(CACNA1S):c.3591C>T (p.Val1197=)
|
|
|
NM_000069.3(CACNA1S):c.3609+10A>G
|
rs1660923412
|
|
NM_000069.3(CACNA1S):c.3610-12T>G
|
|
|
NM_000069.3(CACNA1S):c.3610-15C>G
|
|
|
NM_000069.3(CACNA1S):c.3610-5C>T
|
rs2102563925
|
|
NM_000069.3(CACNA1S):c.3610-6C>G
|
|
|
NM_000069.3(CACNA1S):c.3630G>A (p.Gly1210=)
|
rs1572029683
|
|
NM_000069.3(CACNA1S):c.3666+17C>A
|
|
|
NM_000069.3(CACNA1S):c.3666+17C>T
|
|
|
NM_000069.3(CACNA1S):c.3667-12G>A
|
rs2102562465
|
|
NM_000069.3(CACNA1S):c.3667-16G>C
|
|
|
NM_000069.3(CACNA1S):c.3667-6C>T
|
rs1660735748
|
|
NM_000069.3(CACNA1S):c.3667-7C>G
|
|
|
NM_000069.3(CACNA1S):c.3671C>G (p.Pro1224Arg)
|
|
|
NM_000069.3(CACNA1S):c.3672A>G (p.Pro1224=)
|
rs2102562413
|
|
NM_000069.3(CACNA1S):c.3680G>A (p.Ser1227Asn)
|
|
|
NM_000069.3(CACNA1S):c.3686G>C (p.Arg1229Pro)
|
rs774416016
|
|
NM_000069.3(CACNA1S):c.3720C>G (p.Val1240=)
|
|
|
NM_000069.3(CACNA1S):c.3720C>T (p.Val1240=)
|
rs1293933730
|
|
NM_000069.3(CACNA1S):c.3727C>T (p.Leu1243=)
|
|
|
NM_000069.3(CACNA1S):c.3732C>A (p.Ile1244=)
|
rs2102562223
|
|
NM_000069.3(CACNA1S):c.3759G>T (p.Val1253=)
|
|
|
NM_000069.3(CACNA1S):c.3771G>A (p.Leu1257=)
|
rs2102562124
|
|
NM_000069.3(CACNA1S):c.3795+15C>G
|
|
|
NM_000069.3(CACNA1S):c.3795+9G>C
|
rs2102562042
|
|
NM_000069.3(CACNA1S):c.3796-10C>G
|
|
|
NM_000069.3(CACNA1S):c.3796-18C>G
|
|
|
NM_000069.3(CACNA1S):c.3796-9G>C
|
|
|
NM_000069.3(CACNA1S):c.3801A>G (p.Leu1267=)
|
rs1257331415
|
|
NM_000069.3(CACNA1S):c.3844G>T (p.Ala1282Ser)
|
rs774300377
|
|
NM_000069.3(CACNA1S):c.3861+13C>G
|
|
|
NM_000069.3(CACNA1S):c.3861+13C>T
|
|
|
NM_000069.3(CACNA1S):c.3861+14G>A
|
rs200654730
|
|
NM_000069.3(CACNA1S):c.3861+14G>T
|
rs200654730
|
|
NM_000069.3(CACNA1S):c.3861+15G>A
|
|
|
NM_000069.3(CACNA1S):c.3861+8G>A
|
|
|
NM_000069.3(CACNA1S):c.3862-13T>C
|
|
|
NM_000069.3(CACNA1S):c.3862-17C>A
|
|
|
NM_000069.3(CACNA1S):c.3862-18G>A
|
rs2102560860
|
|
NM_000069.3(CACNA1S):c.3877G>A (p.Ala1293Thr)
|
|
|
NM_000069.3(CACNA1S):c.3885G>A (p.Val1295=)
|
rs1660694623
|
|
NM_000069.3(CACNA1S):c.390C>T (p.Val130=)
|
|
|
NM_000069.3(CACNA1S):c.3933A>G (p.Gln1311=)
|
|
|
NM_000069.3(CACNA1S):c.394C>A (p.Leu132Met)
|
rs377030324
|
|
NM_000069.3(CACNA1S):c.3953+11C>T
|
|
|
NM_000069.3(CACNA1S):c.3953+13C>T
|
rs767630424
|
|
NM_000069.3(CACNA1S):c.3953+14G>A
|
rs201077181
|
|
NM_000069.3(CACNA1S):c.3953+14G>T
|
|
|
NM_000069.3(CACNA1S):c.3953+19C>T
|
|
|
NM_000069.3(CACNA1S):c.3954-16C>T
|
|
|
NM_000069.3(CACNA1S):c.3954-18G>A
|
|
|
NM_000069.3(CACNA1S):c.399-16C>G
|
|
|
NM_000069.3(CACNA1S):c.399-16C>T
|
|
|
NM_000069.3(CACNA1S):c.399-17C>T
|
|
|
NM_000069.3(CACNA1S):c.399-20C>A
|
|
|
NM_000069.3(CACNA1S):c.399-20C>G
|
|
|
NM_000069.3(CACNA1S):c.399-5_399-3del
|
|
|
NM_000069.3(CACNA1S):c.399-5del
|
|
|
NM_000069.3(CACNA1S):c.4001A>G (p.Tyr1334Cys)
|
|
|
NM_000069.3(CACNA1S):c.4011G>A (p.Leu1337=)
|
rs1185048911
|
|
NM_000069.3(CACNA1S):c.4047G>A (p.Glu1349=)
|
rs765572810
|
|
NM_000069.3(CACNA1S):c.4059C>T (p.Gly1353=)
|
|
|
NM_000069.3(CACNA1S):c.4113+19G>C
|
rs2102558285
|
|
NM_000069.3(CACNA1S):c.4113+20C>T
|
|
|
NM_000069.3(CACNA1S):c.4113+7_4113+8inv
|
|
|
NM_000069.3(CACNA1S):c.4114-10T>G
|
|
|
NM_000069.3(CACNA1S):c.4114-5T>A
|
rs1421023094
|
|
NM_000069.3(CACNA1S):c.4114-7C>T
|
|
|
NM_000069.3(CACNA1S):c.4128T>C (p.Phe1376=)
|
rs1572025819
|
|
NM_000069.3(CACNA1S):c.4158C>T (p.Tyr1386=)
|
|
|
NM_000069.3(CACNA1S):c.4176C>A (p.Ser1392=)
|
|
|
NM_000069.3(CACNA1S):c.4182G>A (p.Leu1394=)
|
|
|
NM_000069.3(CACNA1S):c.4182G>C (p.Leu1394=)
|
|
|
NM_000069.3(CACNA1S):c.4185C>T (p.Gly1395=)
|
|
|
NM_000069.3(CACNA1S):c.4189C>T (p.His1397Tyr)
|
rs1184865188
|
|
NM_000069.3(CACNA1S):c.4191T>C (p.His1397=)
|
|
|
NM_000069.3(CACNA1S):c.4197G>A (p.Leu1399=)
|
|
|
NM_000069.3(CACNA1S):c.4197G>T (p.Leu1399=)
|
rs961175031
|
|
NM_000069.3(CACNA1S):c.4236G>A (p.Glu1412=)
|
|
|
NM_000069.3(CACNA1S):c.4241+9A>T
|
rs1558056014
|
|
NM_000069.3(CACNA1S):c.4242-10C>T
|
|
|
NM_000069.3(CACNA1S):c.4242-14G>C
|
|
|
NM_000069.3(CACNA1S):c.4242-19T>A
|
|
|
NM_000069.3(CACNA1S):c.4242-20G>A
|
|
|
NM_000069.3(CACNA1S):c.4242-4G>T
|
|
|
NM_000069.3(CACNA1S):c.4242-7C>T
|
|
|
NM_000069.3(CACNA1S):c.4248A>G (p.Arg1416=)
|
rs2102555712
|
|
NM_000069.3(CACNA1S):c.4266G>A (p.Val1422=)
|
rs2102555682
|
|
NM_000069.3(CACNA1S):c.4269G>C (p.Val1423=)
|
|
|
NM_000069.3(CACNA1S):c.4275G>A (p.Leu1425=)
|
rs2102555664
|
|
NM_000069.3(CACNA1S):c.4276C>T (p.Leu1426=)
|
rs1572024632
|
|
NM_000069.3(CACNA1S):c.429C>T (p.Asn143=)
|
rs553580116
|
|
NM_000069.3(CACNA1S):c.4308G>A (p.Gly1436=)
|
|
|
NM_000069.3(CACNA1S):c.4338+8G>C
|
|
|
NM_000069.3(CACNA1S):c.4350C>A (p.Gly1450=)
|
rs761794209
|
|
NM_000069.3(CACNA1S):c.4350C>G (p.Gly1450=)
|
rs761794209
|
|
NM_000069.3(CACNA1S):c.435C>T (p.Ile145=)
|
|
|
NM_000069.3(CACNA1S):c.4362C>G (p.Pro1454=)
|
|
|
NM_000069.3(CACNA1S):c.4371C>T (p.Ser1457=)
|
|
|
NM_000069.3(CACNA1S):c.4410G>A (p.Leu1470=)
|
|
|
NM_000069.3(CACNA1S):c.4410G>C (p.Leu1470=)
|
|
|
NM_000069.3(CACNA1S):c.4413C>T (p.Val1471=)
|
rs2102554924
|
|
NM_000069.3(CACNA1S):c.4416C>T (p.Arg1472=)
|
|
|
NM_000069.3(CACNA1S):c.4419G>A (p.Thr1473=)
|
rs540448406
|
|
NM_000069.3(CACNA1S):c.4425C>T (p.Leu1475=)
|
rs1553248697
|
|
NM_000069.3(CACNA1S):c.443A>T (p.His148Leu)
|
|
|
NM_000069.3(CACNA1S):c.4441+13del
|
|
|
NM_000069.3(CACNA1S):c.4441+15C>A
|
|
|
NM_000069.3(CACNA1S):c.4441+17A>G
|
|
|
NM_000069.3(CACNA1S):c.4441+9G>A
|
rs1222596828
|
|
NM_000069.3(CACNA1S):c.4442-13T>G
|
|
|
NM_000069.3(CACNA1S):c.4449T>C (p.Phe1483=)
|
rs2102553704
|
|
NM_000069.3(CACNA1S):c.4452G>A (p.Glu1484=)
|
rs2102553700
|
|
NM_000069.3(CACNA1S):c.4455G>A (p.Gln1485=)
|
|
|
NM_000069.3(CACNA1S):c.4458C>T (p.Ala1486=)
|
rs2102553688
|
|
NM_000069.3(CACNA1S):c.4467G>A (p.Glu1489=)
|
rs1293597531
|
|
NM_000069.3(CACNA1S):c.4504A>G (p.Ser1502Gly)
|
|
|
NM_000069.3(CACNA1S):c.4506C>T (p.Ser1502=)
|
|
|
NM_000069.3(CACNA1S):c.4509G>A (p.Met1503Ile)
|
|
|
NM_000069.3(CACNA1S):c.4543+18G>A
|
|
|
NM_000069.3(CACNA1S):c.4543+19G>A
|
|
|
NM_000069.3(CACNA1S):c.4544-16G>A
|
|
|
NM_000069.3(CACNA1S):c.4551G>A (p.Glu1517=)
|
|
|
NM_000069.3(CACNA1S):c.4596C>T (p.His1532=)
|
|
|
NM_000069.3(CACNA1S):c.460A>G (p.Ser154Gly)
|
rs761768992
|
|
NM_000069.3(CACNA1S):c.4610T>C (p.Met1537Thr)
|
|
|
NM_000069.3(CACNA1S):c.4617C>T (p.Arg1539=)
|
rs1572023003
|
|
NM_000069.3(CACNA1S):c.4620A>G (p.Gln1540=)
|
rs1300838444
|
|
NM_000069.3(CACNA1S):c.4641G>T (p.Arg1547=)
|
|
|
NM_000069.3(CACNA1S):c.4668+20del
|
|
|
NM_000069.3(CACNA1S):c.4669-12C>T
|
|
|
NM_000069.3(CACNA1S):c.4669-6C>T
|
|
|
NM_000069.3(CACNA1S):c.4674G>C (p.Gly1558=)
|
rs2102549438
|
|
NM_000069.3(CACNA1S):c.4692A>G (p.Glu1564=)
|
|
|
NM_000069.3(CACNA1S):c.4737T>C (p.Ala1579=)
|
rs2102549285
|
|
NM_000069.3(CACNA1S):c.4740T>A (p.Ala1580=)
|
|
|
NM_000069.3(CACNA1S):c.474C>T (p.Gly158=)
|
|
|
NM_000069.3(CACNA1S):c.4760C>A (p.Ala1587Asp)
|
rs749495704
|
|
NM_000069.3(CACNA1S):c.4767G>A (p.Val1589=)
|
rs2102549218
|
|
NM_000069.3(CACNA1S):c.4794C>G (p.Phe1598Leu)
|
|
|
NM_000069.3(CACNA1S):c.4797+10A>G
|
|
|
NM_000069.3(CACNA1S):c.4798-5C>G
|
|
|
NM_000069.3(CACNA1S):c.4798-5C>T
|
rs375500585
|
|
NM_000069.3(CACNA1S):c.4798-7C>T
|
rs753513483
|
|
NM_000069.3(CACNA1S):c.47C>T (p.Pro16Leu)
|
|
|
NM_000069.3(CACNA1S):c.4803T>C (p.Thr1601=)
|
|
|
NM_000069.3(CACNA1S):c.4810C>T (p.Leu1604=)
|
|
|
NM_000069.3(CACNA1S):c.4827C>T (p.Asp1609=)
|
rs746100808
|
|
NM_000069.3(CACNA1S):c.4836G>A (p.Leu1612=)
|
|
|
NM_000069.3(CACNA1S):c.4836G>C (p.Leu1612=)
|
|
|
NM_000069.3(CACNA1S):c.4850C>A (p.Ser1617Tyr)
|
|
|
NM_000069.3(CACNA1S):c.4857C>G (p.Pro1619=)
|
rs2102547833
|
|
NM_000069.3(CACNA1S):c.4872T>C (p.Asn1624=)
|
rs2102547760
|
|
NM_000069.3(CACNA1S):c.4881C>A (p.Pro1627=)
|
rs919423482
|
|
NM_000069.3(CACNA1S):c.4893T>G (p.Ala1631=)
|
rs1572019425
|
|
NM_000069.3(CACNA1S):c.4908A>G (p.Glu1636=)
|
rs1460660235
|
|
NM_000069.3(CACNA1S):c.4924G>A (p.Val1642Ile)
|
|
|
NM_000069.3(CACNA1S):c.4956C>T (p.Arg1652=)
|
rs775497469
|
|
NM_000069.3(CACNA1S):c.4966C>T (p.Leu1656=)
|
|
|
NM_000069.3(CACNA1S):c.4998C>T (p.Ala1666=)
|
rs929593930
|
|
NM_000069.3(CACNA1S):c.5004C>G (p.Val1668=)
|
|
|
NM_000069.3(CACNA1S):c.5005G>A (p.Ala1669Thr)
|
rs199989324
|
|
NM_000069.3(CACNA1S):c.5010T>C (p.Tyr1670=)
|
|
|
NM_000069.3(CACNA1S):c.5016C>T (p.Asn1672=)
|
rs1660347602
|
|
NM_000069.3(CACNA1S):c.5025T>C (p.His1675=)
|
|
|
NM_000069.3(CACNA1S):c.5048+13A>G
|
|
|
NM_000069.3(CACNA1S):c.5048+18C>T
|
|
|
NM_000069.3(CACNA1S):c.5049-12C>G
|
|
|
NM_000069.3(CACNA1S):c.5049-17C>G
|
|
|
NM_000069.3(CACNA1S):c.5049-7A>C
|
|
|
NM_000069.3(CACNA1S):c.5064G>A (p.Arg1688=)
|
|
|
NM_000069.3(CACNA1S):c.5081C>G (p.Thr1694Arg)
|
|
|
NM_000069.3(CACNA1S):c.5082A>G (p.Thr1694=)
|
rs2102541709
|
|
NM_000069.3(CACNA1S):c.5088G>A (p.Thr1696=)
|
|
|
NM_000069.3(CACNA1S):c.5091T>A (p.Pro1697=)
|
rs1027512934
|
|
NM_000069.3(CACNA1S):c.5094T>C (p.Ala1698=)
|
rs2102541589
|
|
NM_000069.3(CACNA1S):c.5105G>A (p.Arg1702Gln)
|
rs201310235
|
|
NM_000069.3(CACNA1S):c.5105G>C (p.Arg1702Pro)
|
rs201310235
|
|
NM_000069.3(CACNA1S):c.5118A>G (p.Gln1706=)
|
rs2102541479
|
|
NM_000069.3(CACNA1S):c.5120C>T (p.Pro1707Leu)
|
|
|
NM_000069.3(CACNA1S):c.5127G>C (p.Arg1709Ser)
|
|
|
NM_000069.3(CACNA1S):c.5129T>C (p.Val1710Ala)
|
rs1189622818
|
|
NM_000069.3(CACNA1S):c.5134+10T>G
|
rs1572014824
|
|
NM_000069.3(CACNA1S):c.5134+14G>A
|
|
|
NM_000069.3(CACNA1S):c.5134+15T>C
|
|
|
NM_000069.3(CACNA1S):c.5134+7C>T
|
|
|
NM_000069.3(CACNA1S):c.5135-12T>G
|
|
|
NM_000069.3(CACNA1S):c.5135-17C>T
|
|
|
NM_000069.3(CACNA1S):c.5135-6A>G
|
rs1572012951
|
|
NM_000069.3(CACNA1S):c.5139C>T (p.Pro1713=)
|
|
|
NM_000069.3(CACNA1S):c.5169G>A (p.Lys1723=)
|
|
|
NM_000069.3(CACNA1S):c.5178G>T (p.Leu1726=)
|
|
|
NM_000069.3(CACNA1S):c.5199A>C (p.Arg1733Ser)
|
|
|
NM_000069.3(CACNA1S):c.5199A>G (p.Arg1733=)
|
rs1490186766
|
|
NM_000069.3(CACNA1S):c.5207C>T (p.Ala1736Val)
|
|
|
NM_000069.3(CACNA1S):c.5215G>A (p.Ala1739Thr)
|
|
|
NM_000069.3(CACNA1S):c.5227-16T>C
|
|
|
NM_000069.3(CACNA1S):c.5227-6G>A
|
|
|
NM_000069.3(CACNA1S):c.5227-8T>C
|
|
|
NM_000069.3(CACNA1S):c.5229C>T (p.Cys1743=)
|
|
|
NM_000069.3(CACNA1S):c.5233A>C (p.Arg1745=)
|
|
|
NM_000069.3(CACNA1S):c.5254G>A (p.Glu1752Lys)
|
|
|
NM_000069.3(CACNA1S):c.525G>T (p.Leu175=)
|
rs1452693805
|
|
NM_000069.3(CACNA1S):c.5280G>A (p.Gly1760=)
|
|
|
NM_000069.3(CACNA1S):c.5280G>T (p.Gly1760=)
|
|
|
NM_000069.3(CACNA1S):c.5292G>A (p.Glu1764=)
|
|
|
NM_000069.3(CACNA1S):c.5299C>T (p.Pro1767Ser)
|
rs200434921
|
|
NM_000069.3(CACNA1S):c.5301C>A (p.Pro1767=)
|
|
|
NM_000069.3(CACNA1S):c.5312G>A (p.Ser1771Asn)
|
|
|
NM_000069.3(CACNA1S):c.5322G>A (p.Glu1774=)
|
rs377099101
|
|
NM_000069.3(CACNA1S):c.5340A>C (p.Ser1780=)
|
|
|
NM_000069.3(CACNA1S):c.5356C>T (p.Leu1786=)
|
rs371876697
|
|
NM_000069.3(CACNA1S):c.5370+16G>C
|
|
|
NM_000069.3(CACNA1S):c.5388C>T (p.Gly1796=)
|
rs1553247345
|
|
NM_000069.3(CACNA1S):c.5394C>A (p.Gly1798=)
|
rs1558047794
|
|
NM_000069.3(CACNA1S):c.5394C>G (p.Gly1798=)
|
|
|
NM_000069.3(CACNA1S):c.5399_5400inv (p.Leu1800Ser)
|
|
|
NM_000069.3(CACNA1S):c.5400G>A (p.Leu1800=)
|
|
|
NM_000069.3(CACNA1S):c.541+10A>G
|
rs1235748457
|
|
NM_000069.3(CACNA1S):c.541+16C>A
|
|
|
NM_000069.3(CACNA1S):c.541+17C>T
|
|
|
NM_000069.3(CACNA1S):c.541+19G>A
|
|
|
NM_000069.3(CACNA1S):c.541+9C>T
|
rs375541532
|
|
NM_000069.3(CACNA1S):c.5415C>T (p.Asn1805=)
|
rs1572010898
|
|
NM_000069.3(CACNA1S):c.542-4G>A
|
rs2102164152
|
|
NM_000069.3(CACNA1S):c.542-9C>T
|
rs767627454
|
|
NM_000069.3(CACNA1S):c.5421C>T (p.Ile1807=)
|
|
|
NM_000069.3(CACNA1S):c.543C>T (p.Ser181=)
|
rs1188781560
|
|
NM_000069.3(CACNA1S):c.544C>T (p.Leu182=)
|
|
|
NM_000069.3(CACNA1S):c.5469G>A (p.Glu1823=)
|
|
|
NM_000069.3(CACNA1S):c.5490_5497del (p.Leu1832fs)
|
rs554596425
|
|
NM_000069.3(CACNA1S):c.5493G>A (p.Glu1831=)
|
|
|
NM_000069.3(CACNA1S):c.54G>A (p.Lys18=)
|
rs369253685
|
|
NM_000069.3(CACNA1S):c.5506C>A (p.Arg1836=)
|
rs926000507
|
|
NM_000069.3(CACNA1S):c.5507G>A (p.Arg1836Gln)
|
rs368214163
|
|
NM_000069.3(CACNA1S):c.5510A>G (p.Glu1837Gly)
|
rs200765341
|
|
NM_000069.3(CACNA1S):c.5514C>T (p.Ala1838=)
|
|
|
NM_000069.3(CACNA1S):c.5520G>A (p.Glu1840=)
|
rs1042379
|
|
NM_000069.3(CACNA1S):c.5550C>T (p.Asn1850=)
|
|
|
NM_000069.3(CACNA1S):c.5553C>T (p.Leu1851=)
|
|
|
NM_000069.3(CACNA1S):c.5563C>T (p.Leu1855=)
|
|
|
NM_000069.3(CACNA1S):c.5565G>A (p.Leu1855=)
|
|
|
NM_000069.3(CACNA1S):c.5574C>T (p.Leu1858=)
|
rs756090938
|
|
NM_000069.3(CACNA1S):c.57A>C (p.Pro19=)
|
|
|
NM_000069.3(CACNA1S):c.582C>T (p.Leu194=)
|
rs1333426227
|
|
NM_000069.3(CACNA1S):c.600C>T (p.Ala200=)
|
|
|
NM_000069.3(CACNA1S):c.606G>C (p.Leu202=)
|
|
|
NM_000069.3(CACNA1S):c.609C>G (p.Val203=)
|
|
|
NM_000069.3(CACNA1S):c.609C>T (p.Val203=)
|
rs1477834243
|
|
NM_000069.3(CACNA1S):c.60T>A (p.Val20=)
|
rs2102194007
|
|
NM_000069.3(CACNA1S):c.630T>C (p.Tyr210=)
|
|
|
NM_000069.3(CACNA1S):c.639C>T (p.Ile213=)
|
rs1229722414
|
|
NM_000069.3(CACNA1S):c.642G>C (p.Gly214=)
|
|
|
NM_000069.3(CACNA1S):c.648G>A (p.Glu216=)
|
rs200633947
|
|
NM_000069.3(CACNA1S):c.663G>A (p.Lys221=)
|
|
|
NM_000069.3(CACNA1S):c.694+10del
|
rs2102163766
|
|
NM_000069.3(CACNA1S):c.694+8C>A
|
|
|
NM_000069.3(CACNA1S):c.695-12T>C
|
|
|
NM_000069.3(CACNA1S):c.695-13C>A
|
rs1434711051
|
|
NM_000069.3(CACNA1S):c.695-14C>T
|
rs1262968798
|
|
NM_000069.3(CACNA1S):c.695-6del
|
rs748832613
|
|
NM_000069.3(CACNA1S):c.699C>A (p.Ile233=)
|
rs756008578
|
|
NM_000069.3(CACNA1S):c.705C>G (p.Ala235=)
|
|
|
NM_000069.3(CACNA1S):c.708G>A (p.Thr236=)
|
|
|
NM_000069.3(CACNA1S):c.738C>G (p.Ala246=)
|
|
|
NM_000069.3(CACNA1S):c.744G>A (p.Thr248=)
|
|
|
NM_000069.3(CACNA1S):c.744G>C (p.Thr248=)
|
rs373609219
|
|
NM_000069.3(CACNA1S):c.754C>T (p.Arg252Cys)
|
|
|
NM_000069.3(CACNA1S):c.756C>T (p.Arg252=)
|
|
|
NM_000069.3(CACNA1S):c.762C>T (p.Cys254=)
|
rs1232779475
|
|
NM_000069.3(CACNA1S):c.768C>T (p.Ile256=)
|
rs2102160511
|
|
NM_000069.3(CACNA1S):c.773G>A (p.Gly258Asp)
|
rs35534614
|
|
NM_000069.3(CACNA1S):c.786G>C (p.Arg262=)
|
|
|
NM_000069.3(CACNA1S):c.789C>T (p.Gly263=)
|
rs368173398
|
|
NM_000069.3(CACNA1S):c.78G>A (p.Arg26=)
|
rs1663154229
|
|
NM_000069.3(CACNA1S):c.790G>A (p.Gly264Ser)
|
|
|
NM_000069.3(CACNA1S):c.819C>T (p.Thr273=)
|
rs2102160359
|
|
NM_000069.3(CACNA1S):c.81A>G (p.Pro27=)
|
|
|
NM_000069.3(CACNA1S):c.81A>T (p.Pro27=)
|
|
|
NM_000069.3(CACNA1S):c.825C>T (p.Phe275=)
|
|
|
NM_000069.3(CACNA1S):c.831C>T (p.Asn277=)
|
rs2102160322
|
|
NM_000069.3(CACNA1S):c.867T>C (p.Ile289=)
|
rs1572059982
|
|
NM_000069.3(CACNA1S):c.900+11G>A
|
|
|
NM_000069.3(CACNA1S):c.900+15G>A
|
|
|
NM_000069.3(CACNA1S):c.900+9G>T
|
|
|
NM_000069.3(CACNA1S):c.901-10T>C
|
rs2102158289
|
|
NM_000069.3(CACNA1S):c.901-15T>C
|
|
|
NM_000069.3(CACNA1S):c.901-16C>T
|
|
|
NM_000069.3(CACNA1S):c.901-19A>C
|
|
|
NM_000069.3(CACNA1S):c.91T>C (p.Leu31=)
|
rs2102193927
|
|
NM_000069.3(CACNA1S):c.930C>T (p.Pro310=)
|
rs1662091024
|
|
NM_000069.3(CACNA1S):c.945C>T (p.Val315=)
|
|
|
NM_000069.3(CACNA1S):c.951C>A (p.Leu317=)
|
rs773209639
|
|
NM_000069.3(CACNA1S):c.955T>C (p.Leu319=)
|
|
|
NM_000069.3(CACNA1S):c.975C>T (p.Ile325=)
|
rs1572058858
|
|
NM_000069.3(CACNA1S):c.978C>T (p.Leu326=)
|
rs2102158094
|
|
NM_000069.3(CACNA1S):c.9A>T (p.Pro3=)
|
rs765855755
|
|
NM_000334.4(SCN4A):c.1008T>C (p.Phe336=)
|
rs2144809793
|
|
NM_000334.4(SCN4A):c.1023C>T (p.Tyr341=)
|
rs2144809750
|
|
NM_000334.4(SCN4A):c.1032T>C (p.Asp344=)
|
|
|
NM_000334.4(SCN4A):c.1036+12_1036+23del
|
|
|
NM_000334.4(SCN4A):c.1036+13A>G
|
|
|
NM_000334.4(SCN4A):c.1036+16G>A
|
|
|
NM_000334.4(SCN4A):c.1036+8T>C
|
|
|
NM_000334.4(SCN4A):c.1037-17G>A
|
|
|
NM_000334.4(SCN4A):c.1037-6C>T
|
|
|
NM_000334.4(SCN4A):c.1038G>C (p.Gly346=)
|
|
|
NM_000334.4(SCN4A):c.1065C>T (p.Asn355=)
|
|
|
NM_000334.4(SCN4A):c.1080T>C (p.Cys360=)
|
rs757081435
|
|
NM_000334.4(SCN4A):c.1100+10del
|
|
|
NM_000334.4(SCN4A):c.1100+15G>C
|
rs533321924
|
|
NM_000334.4(SCN4A):c.1101-13G>C
|
|
|
NM_000334.4(SCN4A):c.1113G>A (p.Glu371=)
|
|
|
NM_000334.4(SCN4A):c.111C>A (p.Ala37=)
|
|
|
NM_000334.4(SCN4A):c.1125C>T (p.Cys375=)
|
|
|
NM_000334.4(SCN4A):c.112C>A (p.Arg38=)
|
rs776201356
|
|
NM_000334.4(SCN4A):c.1134C>T (p.Thr378=)
|
rs762198335
|
|
NM_000334.4(SCN4A):c.1158C>T (p.Tyr386=)
|
rs745394242
|
|
NM_000334.4(SCN4A):c.1170C>T (p.Asp390=)
|
|
|
NM_000334.4(SCN4A):c.1242+20G>A
|
|
|
NM_000334.4(SCN4A):c.1242+7_1242+18del
|
rs1909434763
|
|
NM_000334.4(SCN4A):c.1243-10C>A
|
|
|
NM_000334.4(SCN4A):c.1243-17_1243-3dup
|
rs771943636
|
|
NM_000334.4(SCN4A):c.1243-7C>T
|
|
|
NM_000334.4(SCN4A):c.1243-9C>T
|
|
|
NM_000334.4(SCN4A):c.1278C>T (p.Phe426=)
|
|
|
NM_000334.4(SCN4A):c.1323G>C (p.Leu441=)
|
|
|
NM_000334.4(SCN4A):c.1326C>A (p.Ile442=)
|
|
|
NM_000334.4(SCN4A):c.1338G>A (p.Val446=)
|
rs796737034
|
|
NM_000334.4(SCN4A):c.1377C>A (p.Ala459=)
|
rs781392555
|
|
NM_000334.4(SCN4A):c.1425C>T (p.Phe475=)
|
|
|
NM_000334.4(SCN4A):c.1452+19G>A
|
|
|
NM_000334.4(SCN4A):c.1453-8G>T
|
rs1909349500
|
|
NM_000334.4(SCN4A):c.1500A>G (p.Pro500=)
|
|
|
NM_000334.4(SCN4A):c.1506T>C (p.His502=)
|
|
|
NM_000334.4(SCN4A):c.1536A>C (p.Thr512=)
|
|
|
NM_000334.4(SCN4A):c.1539G>C (p.Ser513=)
|
rs758833537
|
|
NM_000334.4(SCN4A):c.1539G>T (p.Ser513=)
|
rs758833537
|
|
NM_000334.4(SCN4A):c.1560G>C (p.Pro520=)
|
rs373819078
|
|
NM_000334.4(SCN4A):c.1585G>T (p.Gly529Cys)
|
rs143457794
|
|
NM_000334.4(SCN4A):c.1590C>T (p.Ile530=)
|
|
|
NM_000334.4(SCN4A):c.1606+10T>C
|
rs924271388
|
|
NM_000334.4(SCN4A):c.1606+10_1606+94del
|
rs1909334869
|
|
NM_000334.4(SCN4A):c.1606+15C>T
|
|
|
NM_000334.4(SCN4A):c.1606+16C>A
|
|
|
NM_000334.4(SCN4A):c.1606+16C>T
|
|
|
NM_000334.4(SCN4A):c.1606+17C>G
|
|
|
NM_000334.4(SCN4A):c.1606+20G>T
|
rs73326363
|
|
NM_000334.4(SCN4A):c.1607-19G>A
|
|
|
NM_000334.4(SCN4A):c.1635A>G (p.Pro545=)
|
|
|
NM_000334.4(SCN4A):c.163C>A (p.Arg55=)
|
rs754070476
|
|
NM_000334.4(SCN4A):c.1683C>T (p.Cys561=)
|
|
|
NM_000334.4(SCN4A):c.1693C>T (p.Leu565=)
|
|
|
NM_000334.4(SCN4A):c.171C>T (p.Asp57=)
|
rs1415923721
|
|
NM_000334.4(SCN4A):c.1734G>A (p.Pro578=)
|
rs1216814077
|
|
NM_000334.4(SCN4A):c.1734G>C (p.Pro578=)
|
|
|
NM_000334.4(SCN4A):c.1809G>A (p.Thr603=)
|
|
|
NM_000334.4(SCN4A):c.183C>G (p.Gly61=)
|
rs2143027485
|
|
NM_000334.4(SCN4A):c.1845+14G>A
|
|
|
NM_000334.4(SCN4A):c.1845+16G>A
|
|
|
NM_000334.4(SCN4A):c.1845+17G>A
|
|
|
NM_000334.4(SCN4A):c.1845+18A>C
|
rs775429476
|
|
NM_000334.4(SCN4A):c.1845+18A>T
|
rs775429476
|
|
NM_000334.4(SCN4A):c.1846-19G>T
|
|
|
NM_000334.4(SCN4A):c.1848C>A (p.Val616=)
|
|
|
NM_000334.4(SCN4A):c.1929T>C (p.Asn643=)
|
rs2144795628
|
|
NM_000334.4(SCN4A):c.1947C>A (p.Ile649=)
|
rs564134251
|
|
NM_000334.4(SCN4A):c.1986A>C (p.Val662=)
|
|
|
NM_000334.4(SCN4A):c.1995G>A (p.Leu665=)
|
|
|
NM_000334.4(SCN4A):c.2001G>A (p.Val667=)
|
|
|
NM_000334.4(SCN4A):c.2010C>A (p.Ser670=)
|
|
|
NM_000334.4(SCN4A):c.2016T>C (p.Arg672=)
|
rs988857421
|
|
NM_000334.4(SCN4A):c.2019+10del
|
rs1386474833
|
|
NM_000334.4(SCN4A):c.2019+13C>T
|
rs772218988
|
|
NM_000334.4(SCN4A):c.2020-18G>A
|
|
|
NM_000334.4(SCN4A):c.2020-4G>T
|
|
|
NM_000334.4(SCN4A):c.2061C>T (p.Asn687=)
|
rs1482355253
|
|
NM_000334.4(SCN4A):c.2067C>A (p.Leu689=)
|
|
|
NM_000334.4(SCN4A):c.2107C>T (p.Leu703=)
|
|
|
NM_000334.4(SCN4A):c.2112G>C (p.Thr704=)
|
|
|
NM_000334.4(SCN4A):c.213C>T (p.Pro71=)
|
rs2143027400
|
|
NM_000334.4(SCN4A):c.2163G>C (p.Leu721=)
|
rs371312493
|
|
NM_000334.4(SCN4A):c.2184G>A (p.Glu728=)
|
rs779766143
|
|
NM_000334.4(SCN4A):c.2187C>T (p.Cys729=)
|
rs749942058
|
|
NM_000334.4(SCN4A):c.2241C>T (p.Phe747=)
|
rs1188601087
|
|
NM_000334.4(SCN4A):c.2259C>T (p.Ile753=)
|
|
|
NM_000334.4(SCN4A):c.225C>T (p.Val75=)
|
|
|
NM_000334.4(SCN4A):c.2277C>T (p.Cys759=)
|
|
|
NM_000334.4(SCN4A):c.2292G>A (p.Glu764=)
|
rs1555603112
|
|
NM_000334.4(SCN4A):c.2295C>T (p.Thr765=)
|
|
|
NM_000334.4(SCN4A):c.2376+14G>A
|
|
|
NM_000334.4(SCN4A):c.2379C>T (p.Val793=)
|
|
|
NM_000334.4(SCN4A):c.2385C>T (p.Asn795=)
|
|
|
NM_000334.4(SCN4A):c.2401C>T (p.Leu801=)
|
|
|
NM_000334.4(SCN4A):c.2418C>T (p.Ser806=)
|
|
|
NM_000334.4(SCN4A):c.2436C>T (p.Ala812=)
|
|
|
NM_000334.4(SCN4A):c.2451C>A (p.Gly817=)
|
rs754110462
|
|
NM_000334.4(SCN4A):c.2460C>T (p.Asn820=)
|
|
|
NM_000334.4(SCN4A):c.2490G>A (p.Lys830=)
|
|
|
NM_000334.4(SCN4A):c.2523G>A (p.Leu841=)
|
|
|
NM_000334.4(SCN4A):c.2523G>C (p.Leu841=)
|
|
|
NM_000334.4(SCN4A):c.2568C>T (p.Leu856=)
|
|
|
NM_000334.4(SCN4A):c.2571C>T (p.Ser857=)
|
|
|
NM_000334.4(SCN4A):c.2593G>C (p.Gly865Arg)
|
rs752159625
|
|
NM_000334.4(SCN4A):c.2667G>A (p.Lys889=)
|
|
|
NM_000334.4(SCN4A):c.2700T>C (p.Ala900=)
|
rs1193886090
|
|
NM_000334.4(SCN4A):c.2718C>T (p.Ser906=)
|
|
|
NM_000334.4(SCN4A):c.273+17G>A
|
|
|
NM_000334.4(SCN4A):c.273+8C>A
|
rs1167045006
|
|
NM_000334.4(SCN4A):c.2739C>T (p.Asn913=)
|
|
|
NM_000334.4(SCN4A):c.2814G>A (p.Glu938=)
|
|
|
NM_000334.4(SCN4A):c.2823C>T (p.Thr941=)
|
|
|
NM_000334.4(SCN4A):c.2829T>C (p.Thr943=)
|
rs2144786514
|
|
NM_000334.4(SCN4A):c.2832C>T (p.Phe944=)
|
rs2144786504
|
|
NM_000334.4(SCN4A):c.2853+10G>A
|
rs771981248
|
|
NM_000334.4(SCN4A):c.2853+18C>G
|
|
|
NM_000334.4(SCN4A):c.2854-4G>A
|
|
|
NM_000334.4(SCN4A):c.2854-6C>T
|
rs1311365592
|
|
NM_000334.4(SCN4A):c.2859G>A (p.Pro953=)
|
|
|
NM_000334.4(SCN4A):c.2889C>A (p.Ser963=)
|
rs757881584
|
|
NM_000334.4(SCN4A):c.2889C>T (p.Ser963=)
|
rs757881584
|
|
NM_000334.4(SCN4A):c.2913G>A (p.Lys971=)
|
rs530640921
|
|
NM_000334.4(SCN4A):c.2916C>T (p.Pro972=)
|
|
|
NM_000334.4(SCN4A):c.2937G>A (p.Glu979=)
|
|
|
NM_000334.4(SCN4A):c.2952C>T (p.Asn984=)
|
|
|
NM_000334.4(SCN4A):c.2961G>A (p.Gly987=)
|
rs1447182115
|
|
NM_000334.4(SCN4A):c.2973G>A (p.Glu991=)
|
|
|
NM_000334.4(SCN4A):c.2989+15C>T
|
|
|
NM_000334.4(SCN4A):c.2989+18C>G
|
rs2144784248
|
|
NM_000334.4(SCN4A):c.2990-18C>T
|
|
|
NM_000334.4(SCN4A):c.2990-20G>T
|
|
|
NM_000334.4(SCN4A):c.2990-8C>G
|
|
|
NM_000334.4(SCN4A):c.2990-9C>A
|
|
|
NM_000334.4(SCN4A):c.3030C>T (p.Ser1010=)
|
|
|
NM_000334.4(SCN4A):c.3058C>T (p.Leu1020=)
|
|
|
NM_000334.4(SCN4A):c.3062G>A (p.Arg1021His)
|
rs770497876
|
|
NM_000334.4(SCN4A):c.3066G>A (p.Arg1022=)
|
|
|
NM_000334.4(SCN4A):c.3084C>T (p.Val1028=)
|
|
|
NM_000334.4(SCN4A):c.3123C>A (p.Ile1041=)
|
|
|
NM_000334.4(SCN4A):c.3144+11C>T
|
|
|
NM_000334.4(SCN4A):c.3145-7C>T
|
|
|
NM_000334.4(SCN4A):c.3147C>T (p.Ala1049=)
|
|
|
NM_000334.4(SCN4A):c.3150C>T (p.Phe1050=)
|
|
|
NM_000334.4(SCN4A):c.3300C>T (p.Leu1100=)
|
|
|
NM_000334.4(SCN4A):c.3309C>T (p.Leu1103=)
|
|
|
NM_000334.4(SCN4A):c.3312C>T (p.Ile1104=)
|
rs779189351
|
|
NM_000334.4(SCN4A):c.3318+18G>A
|
|
|
NM_000334.4(SCN4A):c.3318+20C>T
|
rs368263593
|
|
NM_000334.4(SCN4A):c.3318+7C>T
|
|
|
NM_000334.4(SCN4A):c.3318+9C>T
|
|
|
NM_000334.4(SCN4A):c.3319-12C>T
|
rs766233648
|
|
NM_000334.4(SCN4A):c.3319-4G>A
|
|
|
NM_000334.4(SCN4A):c.3357C>T (p.Tyr1119=)
|
rs903219930
|
|
NM_000334.4(SCN4A):c.3394C>A (p.Arg1132=)
|
rs778176181
|
|
NM_000334.4(SCN4A):c.3402G>A (p.Leu1134=)
|
|
|
NM_000334.4(SCN4A):c.3442-12C>G
|
rs538428104
|
|
NM_000334.4(SCN4A):c.3442-12C>T
|
rs538428104
|
|
NM_000334.4(SCN4A):c.3442-17G>C
|
|
|
NM_000334.4(SCN4A):c.3510C>T (p.Phe1170=)
|
|
|
NM_000334.4(SCN4A):c.3546T>C (p.Phe1182=)
|
|
|
NM_000334.4(SCN4A):c.3549C>T (p.Ala1183=)
|
|
|
NM_000334.4(SCN4A):c.3591G>A (p.Arg1197=)
|
|
|
NM_000334.4(SCN4A):c.3603C>T (p.Ser1201=)
|
|
|
NM_000334.4(SCN4A):c.3609C>T (p.Val1203=)
|
|
|
NM_000334.4(SCN4A):c.3630G>A (p.Glu1210=)
|
|
|
NM_000334.4(SCN4A):c.3687C>T (p.Asn1229=)
|
|
|
NM_000334.4(SCN4A):c.3720+19C>T
|
|
|
NM_000334.4(SCN4A):c.3747C>T (p.Ile1249=)
|
|
|
NM_000334.4(SCN4A):c.3774+11G>A
|
|
|
NM_000334.4(SCN4A):c.3774+12T>G
|
|
|
NM_000334.4(SCN4A):c.3774+14G>A
|
|
|
NM_000334.4(SCN4A):c.3774+19G>A
|
|
|
NM_000334.4(SCN4A):c.3774+19G>C
|
|
|
NM_000334.4(SCN4A):c.3775-13G>A
|
rs1423251716
|
|
NM_000334.4(SCN4A):c.3775-15C>A
|
|
|
NM_000334.4(SCN4A):c.3789G>T (p.Pro1263=)
|
rs574892874
|
|
NM_000334.4(SCN4A):c.3795C>T (p.Tyr1265=)
|
|
|
NM_000334.4(SCN4A):c.3816C>T (p.Tyr1272=)
|
|
|
NM_000334.4(SCN4A):c.3831C>A (p.Ile1277=)
|
|
|
NM_000334.4(SCN4A):c.3831C>T (p.Ile1277=)
|
|
|
NM_000334.4(SCN4A):c.3870C>T (p.Phe1290=)
|
|
|
NM_000334.4(SCN4A):c.3888C>T (p.Asp1296=)
|
|
|
NM_000334.4(SCN4A):c.3897C>T (p.Asn1299=)
|
|
|
NM_000334.4(SCN4A):c.3912+20C>T
|
|
|
NM_000334.4(SCN4A):c.3913-14C>A
|
|
|
NM_000334.4(SCN4A):c.3913-8C>T
|
|
|
NM_000334.4(SCN4A):c.392+17G>A
|
|
|
NM_000334.4(SCN4A):c.393-6C>A
|
rs373185863
|
|
NM_000334.4(SCN4A):c.393-6C>T
|
|
|
NM_000334.4(SCN4A):c.3930C>T (p.Ile1310=)
|
|
|
NM_000334.4(SCN4A):c.39C>A (p.Gly13=)
|
rs367551440
|
|
NM_000334.4(SCN4A):c.39C>T (p.Gly13=)
|
rs367551440
|
|
NM_000334.4(SCN4A):c.4017+13G>C
|
|
|
NM_000334.4(SCN4A):c.4017+20C>T
|
rs537558051
|
|
NM_000334.4(SCN4A):c.4018-16C>G
|
|
|
NM_000334.4(SCN4A):c.4018-4G>T
|
|
|
NM_000334.4(SCN4A):c.4032C>A (p.Gly1344=)
|
rs1908598072
|
|
NM_000334.4(SCN4A):c.4038G>C (p.Val1346=)
|
|
|
NM_000334.4(SCN4A):c.4056G>A (p.Lys1352=)
|
|
|
NM_000334.4(SCN4A):c.4089C>T (p.Ile1363=)
|
|
|
NM_000334.4(SCN4A):c.4092C>T (p.Cys1364=)
|
|
|
NM_000334.4(SCN4A):c.4125_4126inv (p.Asn1376Asp)
|
|
|
NM_000334.4(SCN4A):c.4128C>T (p.Asn1376=)
|
|
|
NM_000334.4(SCN4A):c.4149C>T (p.Asp1383=)
|
|
|
NM_000334.4(SCN4A):c.4167C>T (p.Asn1389=)
|
rs1908591302
|
|
NM_000334.4(SCN4A):c.4194G>A (p.Gly1398=)
|
|
|
NM_000334.4(SCN4A):c.4215C>A (p.Leu1405=)
|
|
|
NM_000334.4(SCN4A):c.4278G>A (p.Leu1426=)
|
|
|
NM_000334.4(SCN4A):c.4278G>T (p.Leu1426=)
|
rs1427540247
|
|
NM_000334.4(SCN4A):c.4288+14G>C
|
|
|
NM_000334.4(SCN4A):c.4288+16T>C
|
|
|
NM_000334.4(SCN4A):c.4288+7G>A
|
rs773803283
|
|
NM_000334.4(SCN4A):c.4288+8G>A
|
|
|
NM_000334.4(SCN4A):c.4289-7C>G
|
|
|
NM_000334.4(SCN4A):c.4296C>T (p.Ala1432=)
|
rs1189085197
|
|
NM_000334.4(SCN4A):c.4335G>A (p.Thr1445=)
|
|
|
NM_000334.4(SCN4A):c.4341C>T (p.Phe1447=)
|
rs1908552142
|
|
NM_000334.4(SCN4A):c.4356G>A (p.Leu1452=)
|
rs754606856
|
|
NM_000334.4(SCN4A):c.435C>T (p.Cys145=)
|
|
|
NM_000334.4(SCN4A):c.4362G>A (p.Arg1454=)
|
rs371698958
|
|
NM_000334.4(SCN4A):c.4371T>C (p.Arg1457=)
|
rs2144774823
|
|
NM_000334.4(SCN4A):c.4383G>A (p.Leu1461=)
|
|
|
NM_000334.4(SCN4A):c.4389C>A (p.Arg1463=)
|
rs763124097
|
|
NM_000334.4(SCN4A):c.4395C>T (p.Ala1465=)
|
rs2144774757
|
|
NM_000334.4(SCN4A):c.4401C>T (p.Gly1467=)
|
|
|
NM_000334.4(SCN4A):c.4434G>C (p.Ser1478=)
|
rs753725579
|
|
NM_000334.4(SCN4A):c.4458C>T (p.Gly1486=)
|
|
|
NM_000334.4(SCN4A):c.4464C>T (p.Leu1488=)
|
rs377064207
|
|
NM_000334.4(SCN4A):c.4488C>T (p.Tyr1496=)
|
|
|
NM_000334.4(SCN4A):c.448A>C (p.Met150Leu)
|
rs543502873
|
|
NM_000334.4(SCN4A):c.4518C>T (p.Tyr1506=)
|
|
|
NM_000334.4(SCN4A):c.4524G>A (p.Lys1508=)
|
|
|
NM_000334.4(SCN4A):c.4563C>G (p.Thr1521=)
|
|
|
NM_000334.4(SCN4A):c.456C>T (p.Asp152=)
|
|
|
NM_000334.4(SCN4A):c.4585C>T (p.Leu1529=)
|
|
|
NM_000334.4(SCN4A):c.4605G>A (p.Ser1535=)
|
rs182438287
|
|
NM_000334.4(SCN4A):c.4605G>C (p.Ser1535=)
|
rs182438287
|
|
NM_000334.4(SCN4A):c.4653A>T (p.Pro1551=)
|
|
|
NM_000334.4(SCN4A):c.4692C>T (p.Val1564=)
|
|
|
NM_000334.4(SCN4A):c.46T>A (p.Cys16Ser)
|
rs773541890
|
|
NM_000334.4(SCN4A):c.4713C>G (p.Pro1571=)
|
|
|
NM_000334.4(SCN4A):c.4716C>T (p.Ser1572=)
|
rs903281617
|
|
NM_000334.4(SCN4A):c.4719C>A (p.Ile1573=)
|
rs562551941
|
|
NM_000334.4(SCN4A):c.4743T>C (p.Tyr1581=)
|
|
|
NM_000334.4(SCN4A):c.4815A>T (p.Thr1605=)
|
|
|
NM_000334.4(SCN4A):c.482+10C>T
|
rs1597987667
|
|
NM_000334.4(SCN4A):c.483-16G>A
|
rs1597987551
|
|
NM_000334.4(SCN4A):c.483-4C>G
|
rs200062384
|
|
NM_000334.4(SCN4A):c.483-5C>T
|
rs191547933
|
|
NM_000334.4(SCN4A):c.483-9C>A
|
rs201552497
|
|
NM_000334.4(SCN4A):c.4833C>G (p.Pro1611=)
|
|
|
NM_000334.4(SCN4A):c.4836T>A (p.Leu1612=)
|
rs1393932690
|
|
NM_000334.4(SCN4A):c.4893C>T (p.Ala1631=)
|
|
|
NM_000334.4(SCN4A):c.4938C>G (p.Thr1646=)
|
|
|
NM_000334.4(SCN4A):c.498G>A (p.Gly166=)
|
rs2144813932
|
|
NM_000334.4(SCN4A):c.5061C>T (p.Val1687=)
|
rs1598404879
|
|
NM_000334.4(SCN4A):c.5124C>T (p.Ala1708=)
|
rs1555600600
|
|
NM_000334.4(SCN4A):c.5130C>T (p.Pro1710=)
|
|
|
NM_000334.4(SCN4A):c.5142C>T (p.Ser1714=)
|
rs2144773471
|
|
NM_000334.4(SCN4A):c.5160C>T (p.Thr1720=)
|
|
|
NM_000334.4(SCN4A):c.5169G>A (p.Lys1723=)
|
rs1477243382
|
|
NM_000334.4(SCN4A):c.5172G>A (p.Arg1724=)
|
|
|
NM_000334.4(SCN4A):c.5178C>T (p.His1726=)
|
|
|
NM_000334.4(SCN4A):c.5208G>A (p.Arg1736=)
|
|
|
NM_000334.4(SCN4A):c.5214C>T (p.Tyr1738=)
|
rs760885982
|
|
NM_000334.4(SCN4A):c.5218C>A (p.Arg1740=)
|
rs373804267
|
|
NM_000334.4(SCN4A):c.5220G>A (p.Arg1740=)
|
rs767847345
|
|
NM_000334.4(SCN4A):c.5229A>G (p.Leu1743=)
|
rs1908508905
|
|
NM_000334.4(SCN4A):c.522C>T (p.Ile174=)
|
|
|
NM_000334.4(SCN4A):c.5284G>A (p.Gly1762Arg)
|
rs763493738
|
|
NM_000334.4(SCN4A):c.5286G>C (p.Gly1762=)
|
rs1249593659
|
|
NM_000334.4(SCN4A):c.5286G>T (p.Gly1762=)
|
|
|
NM_000334.4(SCN4A):c.5298T>C (p.Pro1766=)
|
|
|
NM_000334.4(SCN4A):c.529C>T (p.Leu177=)
|
|
|
NM_000334.4(SCN4A):c.52C>T (p.Arg18Cys)
|
rs78592515
|
|
NM_000334.4(SCN4A):c.5316T>C (p.Leu1772=)
|
rs1908503239
|
|
NM_000334.4(SCN4A):c.5319C>T (p.Ala1773=)
|
rs746696835
|
|
NM_000334.4(SCN4A):c.5340T>C (p.Tyr1780=)
|
rs1038392410
|
|
NM_000334.4(SCN4A):c.5361C>T (p.Ser1787=)
|
|
|
NM_000334.4(SCN4A):c.5403C>A (p.Ala1801=)
|
|
|
NM_000334.4(SCN4A):c.5409C>T (p.Pro1803=)
|
|
|
NM_000334.4(SCN4A):c.5442C>T (p.Asp1814=)
|
rs2144772830
|
|
NM_000334.4(SCN4A):c.5448C>G (p.Ala1816=)
|
rs754357879
|
|
NM_000334.4(SCN4A):c.5478T>A (p.Thr1826=)
|
rs2227906
|
|
NM_000334.4(SCN4A):c.600C>A (p.Val200=)
|
|
|
NM_000334.4(SCN4A):c.611+12C>T
|
|
|
NM_000334.4(SCN4A):c.611+15C>T
|
|
|
NM_000334.4(SCN4A):c.611+16_611+24del
|
|
|
NM_000334.4(SCN4A):c.612-11C>T
|
|
|
NM_000334.4(SCN4A):c.612-15C>A
|
|
|
NM_000334.4(SCN4A):c.612-18C>G
|
|
|
NM_000334.4(SCN4A):c.612-18C>T
|
|
|
NM_000334.4(SCN4A):c.612-19C>G
|
rs550132900
|
|
NM_000334.4(SCN4A):c.612-20C>T
|
|
|
NM_000334.4(SCN4A):c.612-5C>A
|
rs1289035327
|
|
NM_000334.4(SCN4A):c.612-8C>T
|
rs1909599791
|
|
NM_000334.4(SCN4A):c.612-9C>G
|
|
|
NM_000334.4(SCN4A):c.633C>T (p.Asp211=)
|
|
|
NM_000334.4(SCN4A):c.652C>T (p.Leu218=)
|
|
|
NM_000334.4(SCN4A):c.678C>T (p.Ala226=)
|
|
|
NM_000334.4(SCN4A):c.703+8G>A
|
|
|
NM_000334.4(SCN4A):c.704-12C>G
|
|
|
NM_000334.4(SCN4A):c.704-6G>C
|
rs368225907
|
|
NM_000334.4(SCN4A):c.704-7C>T
|
|
|
NM_000334.4(SCN4A):c.706C>T (p.Leu236=)
|
rs1253475807
|
|
NM_000334.4(SCN4A):c.714G>A (p.Thr238=)
|
|
|
NM_000334.4(SCN4A):c.717C>T (p.Ile239=)
|
rs568242866
|
|
NM_000334.4(SCN4A):c.723G>A (p.Gly241=)
|
|
|
NM_000334.4(SCN4A):c.73C>T (p.Leu25=)
|
rs1597988304
|
|
NM_000334.4(SCN4A):c.753G>A (p.Ser251=)
|
|
|
NM_000334.4(SCN4A):c.768C>G (p.Leu256=)
|
rs1597985505
|
|
NM_000334.4(SCN4A):c.789C>T (p.Val263=)
|
|
|
NM_000334.4(SCN4A):c.792T>C (p.Phe264=)
|
|
|
NM_000334.4(SCN4A):c.795G>A (p.Ala265=)
|
|
|
NM_000334.4(SCN4A):c.834G>A (p.Gln278=)
|
|
|
NM_000334.4(SCN4A):c.840T>C (p.Cys280=)
|
rs1555604611
|
|
NM_000334.4(SCN4A):c.87A>G (p.Glu29=)
|
rs2143027796
|
|
NM_000334.4(SCN4A):c.888C>T (p.Ser296=)
|
|
|
NM_000334.4(SCN4A):c.915A>T (p.Thr305=)
|
|
|
NM_000334.4(SCN4A):c.975C>T (p.Asn325=)
|
|
|
NM_000891.3(KCNJ2):c.1005C>T (p.His335=)
|
rs2144377784
|
|
NM_000891.3(KCNJ2):c.102G>A (p.Lys34=)
|
rs1476737505
|
|
NM_000891.3(KCNJ2):c.1053C>T (p.Pro351=)
|
rs2144377840
|
|
NM_000891.3(KCNJ2):c.1056C>T (p.Asn352=)
|
rs1473243559
|
|
NM_000891.3(KCNJ2):c.1086A>G (p.Ala362=)
|
|
|
NM_000891.3(KCNJ2):c.1179A>G (p.Gly393=)
|
|
|
NM_000891.3(KCNJ2):c.1206G>T (p.Thr402=)
|
rs1279223538
|
|
NM_000891.3(KCNJ2):c.1215C>T (p.Asp405=)
|
rs863224374
|
|
NM_000891.3(KCNJ2):c.1248A>G (p.Leu416=)
|
|
|
NM_000891.3(KCNJ2):c.1254C>A (p.Pro418=)
|
|
|
NM_000891.3(KCNJ2):c.1254C>G (p.Pro418=)
|
rs748445140
|
|
NM_000891.3(KCNJ2):c.1260C>G (p.Pro420=)
|
rs1257779655
|
|
NM_000891.3(KCNJ2):c.126G>A (p.Gln42=)
|
rs2144376459
|
|
NM_000891.3(KCNJ2):c.186T>C (p.Gly62=)
|
rs2144376552
|
|
NM_000891.3(KCNJ2):c.18C>A (p.Thr6=)
|
rs2144376313
|
|
NM_000891.3(KCNJ2):c.207C>G (p.Leu69=)
|
rs1007358932
|
|
NM_000891.3(KCNJ2):c.207C>T (p.Leu69=)
|
|
|
NM_000891.3(KCNJ2):c.225G>T (p.Thr75=)
|
|
|
NM_000891.3(KCNJ2):c.234C>T (p.Asp78=)
|
|
|
NM_000891.3(KCNJ2):c.244C>A (p.Arg82=)
|
|
|
NM_000891.3(KCNJ2):c.246G>A (p.Arg82=)
|
|
|
NM_000891.3(KCNJ2):c.285A>T (p.Ser95=)
|
rs1388829981
|
|
NM_000891.3(KCNJ2):c.297T>C (p.Phe99=)
|
|
|
NM_000891.3(KCNJ2):c.306G>C (p.Val102=)
|
rs2144376790
|
|
NM_000891.3(KCNJ2):c.321T>C (p.Ala107=)
|
rs2074386434
|
|
NM_000891.3(KCNJ2):c.322C>T (p.Leu108=)
|
rs371331394
|
|
NM_000891.3(KCNJ2):c.324G>A (p.Leu108=)
|
rs900684102
|
|
NM_000891.3(KCNJ2):c.333G>A (p.Gly111=)
|
rs2144376829
|
|
NM_000891.3(KCNJ2):c.402C>T (p.Leu134=)
|
|
|
NM_000891.3(KCNJ2):c.417C>A (p.Thr139=)
|
|
|
NM_000891.3(KCNJ2):c.417C>T (p.Thr139=)
|
|
|
NM_000891.3(KCNJ2):c.426C>G (p.Thr142=)
|
|
|
NM_000891.3(KCNJ2):c.42A>G (p.Ser14=)
|
rs2144376348
|
|
NM_000891.3(KCNJ2):c.453G>C (p.Thr151=)
|
|
|
NM_000891.3(KCNJ2):c.489C>T (p.Phe163=)
|
|
|
NM_000891.3(KCNJ2):c.48A>G (p.Glu16=)
|
rs1470684052
|
|
NM_000891.3(KCNJ2):c.510C>T (p.Ile170=)
|
|
|
NM_000891.3(KCNJ2):c.531C>A (p.Gly177=)
|
|
|
NM_000891.3(KCNJ2):c.564G>A (p.Lys188=)
|
|
|
NM_000891.3(KCNJ2):c.585C>T (p.Phe195=)
|
|
|
NM_000891.3(KCNJ2):c.591C>T (p.His197=)
|
|
|
NM_000891.3(KCNJ2):c.615C>T (p.Asp205=)
|
rs767844416
|
|
NM_000891.3(KCNJ2):c.684A>C (p.Arg228=)
|
rs758144475
|
|
NM_000891.3(KCNJ2):c.690G>A (p.Gln230=)
|
rs2074388781
|
|
NM_000891.3(KCNJ2):c.696C>T (p.Leu232=)
|
|
|
NM_000891.3(KCNJ2):c.699A>G (p.Lys233=)
|
|
|
NM_000891.3(KCNJ2):c.6C>T (p.Gly2=)
|
|
|
NM_000891.3(KCNJ2):c.723G>A (p.Glu241=)
|
|
|
NM_000891.3(KCNJ2):c.762T>C (p.Phe254=)
|
|
|
NM_000891.3(KCNJ2):c.774C>T (p.Ile258=)
|
rs1057524125
|
|
NM_000891.3(KCNJ2):c.789G>C (p.Leu263=)
|
|
|
NM_000891.3(KCNJ2):c.792G>A (p.Val264=)
|
rs2144377441
|
|
NM_000891.3(KCNJ2):c.795C>T (p.Ser265=)
|
rs1381202025
|
|
NM_000891.3(KCNJ2):c.810C>T (p.Val270=)
|
rs1049263340
|
|
NM_000891.3(KCNJ2):c.828C>T (p.Asp276=)
|
|
|
NM_000891.3(KCNJ2):c.849T>C (p.Ser283=)
|
rs2074389639
|
|
NM_000891.3(KCNJ2):c.864C>T (p.Asp288=)
|
rs2144377560
|
|
NM_000891.3(KCNJ2):c.87C>A (p.Gly29=)
|
rs1027878057
|
|
NM_000891.3(KCNJ2):c.885G>A (p.Val295=)
|
|
|
NM_000891.3(KCNJ2):c.93G>A (p.Gly31=)
|
|
|
NM_000891.3(KCNJ2):c.993T>C (p.Phe331=)
|
|
|
NM_000891.3(KCNJ2):c.999G>A (p.Glu333=)
|
rs2144377764
|
|