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NM_000069.3(CACNA1S):c.2550+303A>G
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NM_000069.3(CACNA1S):c.1828-5T>C
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NM_000069.3(CACNA1S):c.1551T>C (p.Gly517=)
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NM_000069.3(CACNA1S):c.1233-190C>T
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0.62254
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NM_000069.3(CACNA1S):c.695-101A>G
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NM_000069.3(CACNA1S):c.5049-145A>G
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NM_000069.3(CACNA1S):c.4797+120A>G
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NM_000069.3(CACNA1S):c.3666+197G>A
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NM_000069.2(CACNA1S):c.-476G>A
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NM_000069.3(CACNA1S):c.2907-89T>G
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NM_000069.3(CACNA1S):c.5227-54T>C
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NM_000069.3(CACNA1S):c.5399T>C (p.Leu1800Ser)
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NM_000069.3(CACNA1S):c.4441+22dup
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NM_000069.3(CACNA1S):c.4973G>A (p.Arg1658His)
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NM_000069.3(CACNA1S):c.258+199_258+200dup
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NM_000069.3(CACNA1S):c.2748C>T (p.His916=)
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NM_000069.3(CACNA1S):c.2746-123del
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NM_000069.3(CACNA1S):c.895T>C (p.Tyr299His)
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NM_000069.3(CACNA1S):c.3795+53T>G
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rs115866349
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rs148664397
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NM_000069.3(CACNA1S):c.2360+281T>C
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rs115307903
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0.00474
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NC_000001.11:g.201112814C>T
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NM_000069.3(CACNA1S):c.2745+14C>T
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rs74138824
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0.00464
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NM_000069.3(CACNA1S):c.3415-30del
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NM_000069.3(CACNA1S):c.4053A>G (p.Thr1351=)
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NM_000069.3(CACNA1S):c.4441+33T>G
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rs199507117
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NM_000069.3(CACNA1S):c.3667-65C>T
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rs76527745
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NM_000069.3(CACNA1S):c.3954-290G>A
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rs76304820
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NM_000069.3(CACNA1S):c.4543+141C>T
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rs144505511
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NM_000069.3(CACNA1S):c.-60A>G
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rs145803564
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0.00349
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NM_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser)
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rs145910245
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NM_000069.3(CACNA1S):c.2550+156A>G
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rs115314061
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NM_000069.3(CACNA1S):c.2854-198G>T
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rs535987356
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0.00314
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NM_000069.3(CACNA1S):c.2854-199T>C
|
rs549897928
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0.00314
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NM_000069.3(CACNA1S):c.383C>G (p.Thr128Ser)
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rs139491817
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0.00246
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NM_000069.3(CACNA1S):c.5515C>T (p.Pro1839Ser)
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rs149547196
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0.00241
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NM_000069.3(CACNA1S):c.901-349G>C
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rs138145248
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0.00230
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NM_000069.3(CACNA1S):c.1711G>A (p.Val571Ile)
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rs114191482
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0.00228
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NM_000069.3(CACNA1S):c.5570G>A (p.Ser1857Asn)
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rs72749169
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0.00210
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NM_000069.3(CACNA1S):c.2992G>A (p.Asp998Asn)
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rs116347156
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0.00172
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NM_000069.3(CACNA1S):c.4686T>C (p.Ile1562=)
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rs138423302
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0.00170
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NM_000069.3(CACNA1S):c.1005-29C>T
|
rs2296385
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0.00141
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NM_000069.3(CACNA1S):c.2440G>A (p.Ala814Thr)
|
rs139956524
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0.00135
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NM_000069.3(CACNA1S):c.5371-19C>T
|
rs201064986
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0.00121
|
NM_000069.3(CACNA1S):c.3795+3G>A
|
rs191758096
|
0.00113
|
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.5370+10G>A
|
rs368138384
|
0.00096
|
NM_000069.3(CACNA1S):c.3954-47G>A
|
rs182225461
|
0.00093
|
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.3425A>C (p.Gln1142Pro)
|
rs139373152
|
0.00073
|
NM_000069.3(CACNA1S):c.5087C>T (p.Thr1696Met)
|
rs367577681
|
0.00070
|
NM_000069.3(CACNA1S):c.5049-2A>G
|
rs148989517
|
0.00056
|
NM_000069.3(CACNA1S):c.369T>C (p.Asn123=)
|
rs148680317
|
0.00055
|
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.540T>C (p.Pro180=)
|
rs138245131
|
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_000069.3(CACNA1S):c.542-13C>T
|
rs199502458
|
0.00030
|
NM_000069.3(CACNA1S):c.4114-3C>T
|
rs182873269
|
0.00027
|
NM_000069.3(CACNA1S):c.324C>T (p.Tyr108=)
|
rs200487405
|
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_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.5510A>C (p.Glu1837Ala)
|
rs200765341
|
0.00021
|
NM_000069.3(CACNA1S):c.743C>T (p.Thr248Met)
|
rs200665694
|
0.00021
|
NM_000069.3(CACNA1S):c.3256-12T>A
|
rs374335683
|
0.00019
|
NM_000069.3(CACNA1S):c.1745G>C (p.Gly582Ala)
|
rs377459546
|
0.00018
|
NM_000069.3(CACNA1S):c.4883T>C (p.Leu1628Pro)
|
rs576536458
|
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.2099C>T (p.Thr700Met)
|
rs147112322
|
0.00016
|
NM_000069.3(CACNA1S):c.2490+5C>T
|
rs369813191
|
0.00016
|
NM_000069.3(CACNA1S):c.262A>G (p.Lys88Glu)
|
rs140330831
|
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.4377C>T (p.Gly1459=)
|
rs138189035
|
0.00015
|
NM_000069.3(CACNA1S):c.3287G>A (p.Arg1096His)
|
rs142102094
|
0.00014
|
NM_000069.3(CACNA1S):c.4340G>A (p.Arg1447Gln)
|
rs377474103
|
0.00014
|
NM_000069.3(CACNA1S):c.1465C>T (p.Arg489Cys)
|
rs138364213
|
0.00013
|
NM_000069.3(CACNA1S):c.1945A>C (p.Asn649His)
|
rs760246258
|
0.00013
|
NM_000069.3(CACNA1S):c.4954C>T (p.Arg1652Cys)
|
rs143933255
|
0.00013
|
NM_000069.3(CACNA1S):c.789C>A (p.Gly263=)
|
rs368173398
|
0.00013
|
NM_000069.3(CACNA1S):c.1948+13G>C
|
rs538625530
|
0.00012
|
NM_000069.3(CACNA1S):c.4916A>T (p.Glu1639Val)
|
rs146885451
|
0.00012
|
NM_000069.3(CACNA1S):c.1166A>T (p.Asp389Val)
|
rs148770452
|
0.00011
|
NM_000069.3(CACNA1S):c.1256G>A (p.Arg419His)
|
rs370861322
|
0.00011
|
NM_000069.3(CACNA1S):c.1669C>T (p.Arg557Cys)
|
rs756612471
|
0.00011
|
NM_000069.3(CACNA1S):c.2296C>A (p.Leu766Met)
|
rs771865391
|
0.00011
|
NM_000069.3(CACNA1S):c.2582G>C (p.Gly861Ala)
|
rs369192794
|
0.00011
|
NM_000069.3(CACNA1S):c.3190G>A (p.Val1064Ile)
|
rs138837077
|
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.1395C>T (p.Asp465=)
|
rs189129662
|
0.00010
|
NM_000069.3(CACNA1S):c.1949-6G>A
|
rs373698107
|
0.00010
|
NM_000069.3(CACNA1S):c.2658G>A (p.Glu886=)
|
rs140924492
|
0.00010
|
NM_000069.3(CACNA1S):c.5299C>A (p.Pro1767Thr)
|
rs200434921
|
0.00010
|
NM_000069.3(CACNA1S):c.3067G>A (p.Ala1023Thr)
|
rs551510986
|
0.00009
|
NM_000069.3(CACNA1S):c.3904C>T (p.Arg1302Trp)
|
rs780390034
|
0.00009
|
NM_000069.3(CACNA1S):c.4679G>A (p.Arg1560Gln)
|
rs372436488
|
0.00008
|
NM_000069.3(CACNA1S):c.5592C>T (p.Ser1864=)
|
rs751405561
|
0.00007
|
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.208G>A (p.Val70Met)
|
rs771706267
|
0.00006
|
NM_000069.3(CACNA1S):c.3026C>T (p.Thr1009Met)
|
rs200224590
|
0.00006
|
NM_000069.3(CACNA1S):c.3256C>T (p.Arg1086Cys)
|
rs80338782
|
0.00006
|
NM_000069.3(CACNA1S):c.3796-13G>A
|
rs374572342
|
0.00006
|
NM_000069.3(CACNA1S):c.3953+16C>T
|
rs201874906
|
0.00006
|
NM_000069.3(CACNA1S):c.4669-11G>A
|
rs376672151
|
0.00006
|
NM_000069.3(CACNA1S):c.1091G>A (p.Arg364Gln)
|
rs763360081
|
0.00005
|
NM_000069.3(CACNA1S):c.1352C>T (p.Ser451Leu)
|
rs35521793
|
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.398+3G>A
|
rs764710968
|
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.542G>C (p.Ser181Thr)
|
rs1046958622
|
0.00005
|
NM_000069.3(CACNA1S):c.2048G>A (p.Arg683His)
|
rs141031133
|
0.00004
|
NM_000069.3(CACNA1S):c.2148C>T (p.Thr716=)
|
rs747075757
|
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.2835C>T (p.Ile945=)
|
rs753072795
|
0.00004
|
NM_000069.3(CACNA1S):c.2839G>A (p.Val947Ile)
|
rs76460090
|
0.00004
|
NM_000069.3(CACNA1S):c.3416A>C (p.His1139Pro)
|
rs756628359
|
0.00004
|
NM_000069.3(CACNA1S):c.3746G>A (p.Arg1249Gln)
|
rs775009783
|
0.00004
|
NM_000069.3(CACNA1S):c.4415G>A (p.Arg1472His)
|
rs201463541
|
0.00004
|
NM_000069.3(CACNA1S):c.4690G>A (p.Glu1564Lys)
|
rs368421264
|
0.00004
|
NM_000069.3(CACNA1S):c.4882C>T (p.Leu1628Phe)
|
rs200848930
|
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.898T>C (p.Trp300Arg)
|
rs370325121
|
0.00004
|
NM_000069.3(CACNA1S):c.900G>A (p.Trp300Ter)
|
rs148317787
|
0.00004
|
NM_000069.3(CACNA1S):c.1290G>A (p.Lys430=)
|
rs1241905770
|
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.1552G>A (p.Ala518Thr)
|
rs776209588
|
0.00003
|
NM_000069.3(CACNA1S):c.2055G>C (p.Lys685Asn)
|
rs200844059
|
0.00003
|
NM_000069.3(CACNA1S):c.2381G>A (p.Arg794His)
|
rs760674518
|
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.3890G>A (p.Gly1297Glu)
|
rs749856222
|
0.00003
|
NM_000069.3(CACNA1S):c.4522C>G (p.Gln1508Glu)
|
rs970352258
|
0.00003
|
NM_000069.3(CACNA1S):c.482T>C (p.Val161Ala)
|
rs141521945
|
0.00003
|
NM_000069.3(CACNA1S):c.5526G>A (p.Met1842Ile)
|
rs374294701
|
0.00003
|
NM_000069.3(CACNA1S):c.588C>G (p.Leu196=)
|
rs746654928
|
0.00003
|
NM_000069.3(CACNA1S):c.665T>A (p.Met222Lys)
|
rs1287586310
|
0.00003
|
NM_000069.3(CACNA1S):c.915C>T (p.Ile305=)
|
rs376517944
|
0.00003
|
NM_000069.3(CACNA1S):c.1204G>T (p.Ala402Ser)
|
rs756022224
|
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.1582C>T (p.Arg528Cys)
|
rs80338778
|
0.00002
|
NM_000069.3(CACNA1S):c.1619+15C>T
|
rs771698501
|
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.3322C>G (p.Gln1108Glu)
|
rs765685405
|
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.481G>A (p.Val161Ile)
|
rs138265497
|
0.00002
|
NM_000069.3(CACNA1S):c.5135-4A>G
|
rs1388042700
|
0.00002
|
NM_000069.3(CACNA1S):c.5237T>C (p.Val1746Ala)
|
rs1187716461
|
0.00002
|
NM_000069.3(CACNA1S):c.708G>C (p.Thr236=)
|
rs754213830
|
0.00002
|
NM_000069.3(CACNA1S):c.758G>A (p.Arg253Gln)
|
rs768015104
|
0.00002
|
NM_000069.3(CACNA1S):c.835G>A (p.Gly279Ser)
|
rs375704313
|
0.00002
|
NM_000069.3(CACNA1S):c.862T>G (p.Cys288Gly)
|
rs201585867
|
0.00002
|
NM_000069.3(CACNA1S):c.1045A>G (p.Thr349Ala)
|
rs752737494
|
0.00001
|
NM_000069.3(CACNA1S):c.1369C>T (p.Pro457Ser)
|
rs372374492
|
0.00001
|
NM_000069.3(CACNA1S):c.1370C>T (p.Pro457Leu)
|
rs1450678337
|
0.00001
|
NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His)
|
rs80338777
|
0.00001
|
NM_000069.3(CACNA1S):c.1583G>T (p.Arg528Leu)
|
rs80338777
|
0.00001
|
NM_000069.3(CACNA1S):c.1611G>A (p.Lys537=)
|
rs765888271
|
0.00001
|
NM_000069.3(CACNA1S):c.1723C>T (p.Leu575Phe)
|
rs772213240
|
0.00001
|
NM_000069.3(CACNA1S):c.1827+5G>C
|
rs758002358
|
0.00001
|
NM_000069.3(CACNA1S):c.1882G>A (p.Gly628Ser)
|
rs768445692
|
0.00001
|
NM_000069.3(CACNA1S):c.2142C>A (p.Ile714=)
|
rs1057524027
|
0.00001
|
NM_000069.3(CACNA1S):c.224C>T (p.Pro75Leu)
|
rs779684649
|
0.00001
|
NM_000069.3(CACNA1S):c.2289G>A (p.Glu763=)
|
rs1427158400
|
0.00001
|
NM_000069.3(CACNA1S):c.2365C>T (p.Arg789Cys)
|
rs148895719
|
0.00001
|
NM_000069.3(CACNA1S):c.2707C>T (p.Arg903Ter)
|
rs367983954
|
0.00001
|
NM_000069.3(CACNA1S):c.272A>T (p.Tyr91Phe)
|
rs1013152799
|
0.00001
|
NM_000069.3(CACNA1S):c.2907-16G>A
|
rs756591873
|
0.00001
|
NM_000069.3(CACNA1S):c.3137T>A (p.Ile1046Asn)
|
rs749706205
|
0.00001
|
NM_000069.3(CACNA1S):c.3256-9G>A
|
rs1294455750
|
0.00001
|
NM_000069.3(CACNA1S):c.3414+3A>T
|
rs892742196
|
0.00001
|
NM_000069.3(CACNA1S):c.3667-4G>A
|
rs762497596
|
0.00001
|
NM_000069.3(CACNA1S):c.3685C>T (p.Arg1229Cys)
|
rs781070076
|
0.00001
|
NM_000069.3(CACNA1S):c.3722T>C (p.Met1241Thr)
|
rs756259956
|
0.00001
|
NM_000069.3(CACNA1S):c.3795G>T (p.Gln1265His)
|
rs201627041
|
0.00001
|
NM_000069.3(CACNA1S):c.4025C>T (p.Ser1342Leu)
|
rs563795648
|
0.00001
|
NM_000069.3(CACNA1S):c.4243G>A (p.Gly1415Arg)
|
rs886045796
|
0.00001
|
NM_000069.3(CACNA1S):c.4462G>A (p.Glu1488Lys)
|
rs533353353
|
0.00001
|
NM_000069.3(CACNA1S):c.4598T>C (p.Phe1533Ser)
|
rs772750589
|
0.00001
|
NM_000069.3(CACNA1S):c.4717A>T (p.Thr1573Ser)
|
rs147007610
|
0.00001
|
NM_000069.3(CACNA1S):c.4984A>T (p.Asn1662Tyr)
|
rs200772623
|
0.00001
|
NM_000069.3(CACNA1S):c.502C>T (p.Arg168Ter)
|
rs201998231
|
0.00001
|
NM_000069.3(CACNA1S):c.5048+8C>T
|
rs759622507
|
0.00001
|
NM_000069.3(CACNA1S):c.5150C>G (p.Pro1717Arg)
|
rs758722244
|
0.00001
|
NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp)
|
rs772226819
|
0.00001
|
NM_000069.3(CACNA1S):c.5248A>G (p.Met1750Val)
|
rs771065920
|
0.00001
|
NM_000069.3(CACNA1S):c.550G>A (p.Val184Met)
|
rs1662243070
|
0.00001
|
NM_000069.3(CACNA1S):c.870C>T (p.Thr290=)
|
rs780305979
|
0.00001
|
NM_000069.3(CACNA1S):c.900+9G>A
|
rs1454687459
|
0.00001
|
NM_000069.2(CACNA1S):c.-476G>C
|
rs2281845
|
|
NM_000069.3(CACNA1S):c.1047C>T (p.Thr349=)
|
rs542505383
|
|
NM_000069.3(CACNA1S):c.1151-38C>A
|
rs41267505
|
|
NM_000069.3(CACNA1S):c.1233-112C>A
|
rs12743065
|
|
NM_000069.3(CACNA1S):c.1269G>A (p.Trp423Ter)
|
rs1558075630
|
|
NM_000069.3(CACNA1S):c.1277A>G (p.His426Arg)
|
rs749572656
|
|
NM_000069.3(CACNA1S):c.1382C>A (p.Thr461Asn)
|
rs143202536
|
|
NM_000069.3(CACNA1S):c.1408G>T (p.Val470Leu)
|
rs867624444
|
|
NM_000069.3(CACNA1S):c.1439T>A (p.Leu480Gln)
|
rs2102144367
|
|
NM_000069.3(CACNA1S):c.148T>C (p.Trp50Arg)
|
|
|
NM_000069.3(CACNA1S):c.1493G>A (p.Arg498His)
|
rs150590855
|
|
NM_000069.3(CACNA1S):c.1493G>T (p.Arg498Leu)
|
rs150590855
|
|
NM_000069.3(CACNA1S):c.152+17G>A
|
rs113558244
|
|
NM_000069.3(CACNA1S):c.152+17G>C
|
rs113558244
|
|
NM_000069.3(CACNA1S):c.152+24dup
|
rs112984935
|
|
NM_000069.3(CACNA1S):c.152+258GGA[3]
|
rs71843679
|
|
NM_000069.3(CACNA1S):c.152+26G>A
|
rs74875474
|
|
NM_000069.3(CACNA1S):c.152+26G>C
|
rs74875474
|
|
NM_000069.3(CACNA1S):c.152+26G>T
|
rs74875474
|
|
NM_000069.3(CACNA1S):c.152+32del
|
rs112984935
|
|
NM_000069.3(CACNA1S):c.153-193G>T
|
rs7513829
|
|
NM_000069.3(CACNA1S):c.153-349T>C
|
rs144528856
|
|
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.1564C>G (p.Leu522Val)
|
rs4915476
|
|
NM_000069.3(CACNA1S):c.160G>A (p.Glu54Lys)
|
|
|
NM_000069.3(CACNA1S):c.1629G>T (p.Thr543=)
|
rs143999390
|
|
NM_000069.3(CACNA1S):c.1631C>T (p.Ser544Leu)
|
|
|
NM_000069.3(CACNA1S):c.1678G>T (p.Ala560Ser)
|
rs763794604
|
|
NM_000069.3(CACNA1S):c.1720G>A (p.Ala574Thr)
|
|
|
NM_000069.3(CACNA1S):c.1744G>T (p.Gly582Trp)
|
|
|
NM_000069.3(CACNA1S):c.1827+3A>G
|
rs1057522801
|
|
NM_000069.3(CACNA1S):c.1857_1860delinsTATT (p.Met619_Met620delinsIleIle)
|
rs2102140252
|
|
NM_000069.3(CACNA1S):c.1884C>G (p.Gly628=)
|
rs200743095
|
|
NM_000069.3(CACNA1S):c.1904T>A (p.Met635Lys)
|
rs144590408
|
|
NM_000069.3(CACNA1S):c.1949-99_1949-98del
|
rs66932448
|
|
NM_000069.3(CACNA1S):c.2063+331del
|
rs34878705
|
|
NM_000069.3(CACNA1S):c.2157+198_2157+200del
|
rs71138316
|
|
NM_000069.3(CACNA1S):c.2158-201G>A
|
rs3767506
|
|
NM_000069.3(CACNA1S):c.2225C>T (p.Pro742Leu)
|
rs2102135828
|
|
NM_000069.3(CACNA1S):c.2227+221A>G
|
rs16847659
|
|
NM_000069.3(CACNA1S):c.2454G>A (p.Ala818=)
|
rs141619541
|
|
NM_000069.3(CACNA1S):c.2501A>G (p.His834Arg)
|
|
|
NM_000069.3(CACNA1S):c.2505T>C (p.Phe835=)
|
rs1057524226
|
|
NM_000069.3(CACNA1S):c.2551-347A>C
|
rs74138825
|
|
NM_000069.3(CACNA1S):c.258+31C>A
|
rs116259814
|
|
NM_000069.3(CACNA1S):c.259-149dup
|
rs201338755
|
|
NM_000069.3(CACNA1S):c.2657+253G>A
|
rs114191689
|
|
NM_000069.3(CACNA1S):c.2658-163C>A
|
rs2297901
|
|
NM_000069.3(CACNA1S):c.2746-16G>A
|
rs531717137
|
|
NM_000069.3(CACNA1S):c.2854-33CCTC[6]
|
rs747117832
|
|
NM_000069.3(CACNA1S):c.2854-89C>G
|
rs2275484
|
|
NM_000069.3(CACNA1S):c.2920G>A (p.Val974Met)
|
rs757840865
|
|
NM_000069.3(CACNA1S):c.2926A>G (p.Lys976Glu)
|
rs764838436
|
|
NM_000069.3(CACNA1S):c.3026C>A (p.Thr1009Lys)
|
rs200224590
|
|
NM_000069.3(CACNA1S):c.3054-148C>T
|
rs16847607
|
|
NM_000069.3(CACNA1S):c.3255+185G>C
|
rs61451656
|
|
NM_000069.3(CACNA1S):c.3257G>A (p.Arg1086His)
|
rs1800559
|
|
NM_000069.3(CACNA1S):c.3261A>G (p.Gln1087=)
|
rs34515088
|
|
NM_000069.3(CACNA1S):c.3407G>A (p.Gly1136Asp)
|
rs375919164
|
|
NM_000069.3(CACNA1S):c.3526-232C>T
|
rs58124792
|
|
NM_000069.3(CACNA1S):c.3609+11G>A
|
rs1572032981
|
|
NM_000069.3(CACNA1S):c.3610-167A>C
|
rs988057279
|
|
NM_000069.3(CACNA1S):c.3610-291C>G
|
rs10800755
|
|
NM_000069.3(CACNA1S):c.3686G>A (p.Arg1229His)
|
rs774416016
|
|
NM_000069.3(CACNA1S):c.3715C>G (p.Arg1239Gly)
|
rs28930069
|
|
NM_000069.3(CACNA1S):c.3716G>A (p.Arg1239His)
|
rs28930068
|
|
NM_000069.3(CACNA1S):c.373C>T (p.Leu125=)
|
rs1464376202
|
|
NM_000069.3(CACNA1S):c.3757G>A (p.Val1253Met)
|
rs1660730259
|
|
NM_000069.3(CACNA1S):c.3844G>T (p.Ala1282Ser)
|
rs774300377
|
|
NM_000069.3(CACNA1S):c.394C>A (p.Leu132Met)
|
rs377030324
|
|
NM_000069.3(CACNA1S):c.3953+14G>A
|
rs201077181
|
|
NM_000069.3(CACNA1S):c.3953+5G>A
|
rs752722907
|
|
NM_000069.3(CACNA1S):c.3953+66G>C
|
rs12029212
|
|
NM_000069.3(CACNA1S):c.3998G>A (p.Ser1333Asn)
|
rs1030338556
|
|
NM_000069.3(CACNA1S):c.4038del (p.Glu1348fs)
|
rs1553248947
|
|
NM_000069.3(CACNA1S):c.4099C>G (p.Leu1367Val)
|
rs1660628086
|
|
NM_000069.3(CACNA1S):c.4270A>G (p.Thr1424Ala)
|
|
|
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.4441+108A>C
|
rs7535428
|
|
NM_000069.3(CACNA1S):c.4545T>A (p.Asp1515Glu)
|
|
|
NM_000069.3(CACNA1S):c.4569C>G (p.Phe1523Leu)
|
rs995172326
|
|
NM_000069.3(CACNA1S):c.4611G>C (p.Met1537Ile)
|
rs2102553067
|
|
NM_000069.3(CACNA1S):c.4616G>T (p.Arg1539Leu)
|
rs774256022
|
|
NM_000069.3(CACNA1S):c.4668+290G>A
|
rs146835418
|
|
NM_000069.3(CACNA1S):c.4798-278G>A
|
rs67602696
|
|
NM_000069.3(CACNA1S):c.4798-2A>G
|
rs1428157373
|
|
NM_000069.3(CACNA1S):c.4810C>A (p.Leu1604Met)
|
rs144059385
|
|
NM_000069.3(CACNA1S):c.4862T>C (p.Val1621Ala)
|
rs1064796136
|
|
NM_000069.3(CACNA1S):c.4864A>C (p.Met1622Leu)
|
rs768776674
|
|
NM_000069.3(CACNA1S):c.4956C>T (p.Arg1652=)
|
rs775497469
|
|
NM_000069.3(CACNA1S):c.4972_4973delinsTA (p.Arg1658Tyr)
|
rs1553248123
|
|
NM_000069.3(CACNA1S):c.5104C>T (p.Arg1702Ter)
|
rs550371466
|
|
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.5125A>G (p.Arg1709Gly)
|
rs1660201407
|
|
NM_000069.3(CACNA1S):c.5462A>G (p.Glu1821Gly)
|
rs1057524423
|
|
NM_000069.3(CACNA1S):c.5490_5497del (p.Leu1832fs)
|
rs554596425
|
|
NM_000069.3(CACNA1S):c.5576A>G (p.Asp1859Gly)
|
rs1057524424
|
|
NM_000069.3(CACNA1S):c.694+236_694+237dup
|
rs138165996
|
|
NM_000069.3(CACNA1S):c.694+241_694+242insCA
|
rs1553252709
|
|
NM_000069.3(CACNA1S):c.694+243G>A
|
rs7532130
|
|
NM_000069.3(CACNA1S):c.707C>A (p.Thr236Lys)
|
rs767790285
|
|
NM_000069.3(CACNA1S):c.707C>G (p.Thr236Arg)
|
rs767790285
|
|
NM_000069.3(CACNA1S):c.773G>A (p.Gly258Asp)
|
rs35534614
|
|
NM_000069.3(CACNA1S):c.773G>T (p.Gly258Val)
|
rs35534614
|
|
NM_000069.3(CACNA1S):c.82C>A (p.Pro28Thr)
|
rs1297380219
|
|