ClinVar Miner

List of variants in gene CACNA1S reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 456
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HGVS dbSNP gnomAD frequency
NM_000069.3(CACNA1S):c.5135-56A>G rs6427875 0.99321
NM_000069.3(CACNA1S):c.1620-133T>C rs6672094 0.79961
NM_000069.3(CACNA1S):c.3954-303A>C rs3861928 0.77193
NM_000069.3(CACNA1S):c.2550+303A>G rs1272740 0.72885
NM_000069.3(CACNA1S):c.1620-124A>C rs925060 0.71333
NM_000069.3(CACNA1S):c.1828-5T>C rs1998721 0.71016
NM_000069.3(CACNA1S):c.1551T>C (p.Gly517=) rs4915477 0.70571
NM_000069.3(CACNA1S):c.1233-190C>T rs4915478 0.62254
NM_000069.3(CACNA1S):c.695-101A>G rs2296384 0.58868
NM_000069.3(CACNA1S):c.5049-145A>G rs6675915 0.56692
NM_000069.3(CACNA1S):c.4797+120A>G rs2297906 0.55013
NM_000069.3(CACNA1S):c.3666+197G>A rs3818873 0.51494
NM_000069.2(CACNA1S):c.-476G>A rs2281845 0.50680
NM_000069.3(CACNA1S):c.2907-89T>G rs2297903 0.50626
NM_000069.3(CACNA1S):c.153-61A>T rs1325309 0.46473
NM_000069.3(CACNA1S):c.2063+333G>A rs10800757 0.45866
NM_000069.3(CACNA1S):c.258+271T>C rs1325312 0.45683
NM_000069.3(CACNA1S):c.258+204C>T rs1325311 0.45674
NM_000069.3(CACNA1S):c.153-321G>A rs10920121 0.44719
NM_000069.3(CACNA1S):c.2403T>C (p.Phe801=) rs7415038 0.43715
NM_000069.3(CACNA1S):c.1948+279G>A rs3767510 0.42240
NM_000069.3(CACNA1S):c.2157+59C>T rs9333652 0.42137
NM_000069.3(CACNA1S):c.3667-319G>C rs3767500 0.41420
NM_000069.2(CACNA1S):c.-310G>C rs2281846 0.38787
NM_000069.3(CACNA1S):c.5227-54T>C rs1546416 0.36336
NM_000069.3(CACNA1S):c.597C>T (p.Ile199=) rs2296383 0.32034
NM_000069.3(CACNA1S):c.258+57G>A rs1325310 0.28632
NM_000069.2(CACNA1S):c.-231A>G rs4506487 0.28191
NM_000069.3(CACNA1S):c.1515T>C (p.Cys505=) rs9427714 0.24503
NM_000069.3(CACNA1S):c.5399T>C (p.Leu1800Ser) rs12139527 0.24484
NM_000069.3(CACNA1S):c.1233-24A>G rs12724643 0.24410
NM_000069.3(CACNA1S):c.1233-293C>T rs12743376 0.24392
NM_000069.3(CACNA1S):c.1373T>A (p.Leu458His) rs12742169 0.24315
NM_000069.3(CACNA1S):c.1564C>T (p.Leu522=) rs4915476 0.23047
NM_000069.3(CACNA1S):c.1371T>G (p.Pro457=) rs12742170 0.22856
NM_000069.3(CACNA1S):c.1393+91A>G rs3767511 0.22804
NM_000069.3(CACNA1S):c.2064-213C>T rs2296386 0.21336
NM_000069.3(CACNA1S):c.4669-150C>T rs55861132 0.20575
NM_000069.3(CACNA1S):c.4543+7G>A rs2297905 0.19414
NM_000069.3(CACNA1S):c.2063+318G>A rs10920106 0.17609
NM_000069.3(CACNA1S):c.3054-72C>T rs2297904 0.17462
NM_000069.3(CACNA1S):c.4441+22dup rs35713982 0.17375
NM_000069.3(CACNA1S):c.152+299T>C rs10920122 0.16982
NM_000069.3(CACNA1S):c.5048+162G>A rs2279944 0.12692
NM_000069.3(CACNA1S):c.3256-194C>T rs12046840 0.12213
NM_000069.3(CACNA1S):c.4973G>A (p.Arg1658His) rs13374149 0.11390
NM_000069.3(CACNA1S):c.3954-89C>T rs12138260 0.10840
NM_000069.3(CACNA1S):c.4860C>T (p.Pro1620=) rs41267497 0.10778
NM_000069.3(CACNA1S):c.3053+84G>A rs61614423 0.10575
NM_000069.3(CACNA1S):c.152+302C>T rs111992614 0.10466
NM_000069.3(CACNA1S):c.1948+40A>G rs767714654 0.10384
NM_000069.3(CACNA1S):c.1491C>T (p.Asn497=) rs16847674 0.09605
NM_000069.3(CACNA1S):c.4615C>T (p.Arg1539Cys) rs3850625 0.08709
NM_000069.3(CACNA1S):c.3415-39C>T rs73075033 0.08022
NM_000069.3(CACNA1S):c.4242-235A>C rs7538449 0.07730
NM_000069.3(CACNA1S):c.1827+23C>A rs7549030 0.07048
NM_000069.3(CACNA1S):c.2853+99C>T rs7411680 0.06326
NM_000069.3(CACNA1S):c.1004+205A>G rs72749197 0.05990
NM_000069.3(CACNA1S):c.2853+318T>A rs3820421 0.05257
NM_000069.3(CACNA1S):c.4241+183G>A rs12065493 0.05051
NM_000069.3(CACNA1S):c.1948+46T>G rs762596604 0.04852
NM_000069.3(CACNA1S):c.2658-44T>A rs41267503 0.03964
NM_000069.3(CACNA1S):c.2746-25T>C rs4564170 0.03944
NM_000069.3(CACNA1S):c.2746-14C>T rs113792034 0.03828
NM_000069.3(CACNA1S):c.206C>G (p.Ala69Gly) rs12406479 0.03481
NM_000069.3(CACNA1S):c.152+56G>A rs73081023 0.03474
NM_000069.3(CACNA1S):c.398+149A>G rs10920114 0.03456
NM_000069.3(CACNA1S):c.2673C>T (p.Ser891=) rs16847623 0.02892
NM_000069.3(CACNA1S):c.1548G>A (p.Ser516=) rs16847669 0.02707
NM_000069.3(CACNA1S):c.901-64G>A rs16847699 0.02621
NM_000069.3(CACNA1S):c.1393+7C>T rs3767512 0.02512
NM_000069.3(CACNA1S):c.2063+7G>T rs79984703 0.02430
NM_000069.3(CACNA1S):c.258+199_258+200dup rs112116400 0.02355
NM_000069.3(CACNA1S):c.1948+320C>T rs3767509 0.02316
NM_000069.3(CACNA1S):c.4668+119C>G rs12407188 0.02300
NM_000069.3(CACNA1S):c.4113+116C>T rs75777080 0.02279
NM_000069.3(CACNA1S):c.2551-286C>G rs2297899 0.02276
NM_000069.3(CACNA1S):c.153-135G>A rs111530734 0.02143
NM_000069.3(CACNA1S):c.2748C>T (p.His916=) rs2297902 0.02034
NM_000069.3(CACNA1S):c.-83C>T rs116071603 0.01915
NM_000069.3(CACNA1S):c.1620-289G>A rs78123963 0.01906
NM_000069.3(CACNA1S):c.3822C>T (p.Ile1274=) rs56183942 0.01893
NM_000069.3(CACNA1S):c.4798-309C>T rs55837027 0.01881
NM_000069.3(CACNA1S):c.153-166G>A rs112775115 0.01728
NM_000069.3(CACNA1S):c.399-145T>A rs117190487 0.01720
NM_000069.3(CACNA1S):c.1619+60G>A rs112680586 0.01704
NM_000069.3(CACNA1S):c.858C>T (p.Tyr286=) rs61734621 0.01658
NM_000069.3(CACNA1S):c.3796-9G>A rs142184434 0.01603
NM_000069.3(CACNA1S):c.3525+18C>T rs56021911 0.01583
NM_000069.3(CACNA1S):c.1151-195C>A rs16847694 0.01505
NM_000069.3(CACNA1S):c.1233-271G>A rs114483353 0.01462
NM_000069.3(CACNA1S):c.901-149C>G rs76916153 0.01293
NM_000069.3(CACNA1S):c.3053+13T>C rs41267501 0.01237
NM_000069.3(CACNA1S):c.2063+43G>A rs114398687 0.01142
NM_000069.3(CACNA1S):c.3862-251T>A rs12059309 0.01129
NM_000069.3(CACNA1S):c.1828-54G>C rs145327352 0.01079
NM_000069.3(CACNA1S):c.2227+299C>T rs115274946 0.01077
NM_000069.3(CACNA1S):c.3953+6C>T rs115707724 0.01059
NM_000069.3(CACNA1S):c.2480T>C (p.Met827Thr) rs61238538 0.01045
NM_000069.3(CACNA1S):c.3862-223C>T rs78775906 0.01035
NM_000069.3(CACNA1S):c.2551-76C>T rs77305310 0.00987
NM_000069.3(CACNA1S):c.1233-111G>A rs147434169 0.00984
NM_000069.3(CACNA1S):c.1394-190T>A rs140560317 0.00984
NM_000069.3(CACNA1S):c.3526-197A>G rs79649129 0.00962
NM_000069.3(CACNA1S):c.1005-256G>A rs111258345 0.00961
NM_000069.3(CACNA1S):c.2551-192A>G rs76779825 0.00939
NM_000069.3(CACNA1S):c.2227+246G>C rs115435141 0.00913
NM_000069.3(CACNA1S):c.3795+74C>A rs73072961 0.00911
NM_000069.3(CACNA1S):c.1393+226C>T rs16847684 0.00892
NM_000069.3(CACNA1S):c.2746-123del rs201570722 0.00877
NM_000069.3(CACNA1S):c.1817G>A (p.Ser606Asn) rs142356235 0.00873
NM_000069.3(CACNA1S):c.2361-269A>C rs147061115 0.00802
NM_000069.3(CACNA1S):c.3609+216T>C rs80305999 0.00799
NM_000069.3(CACNA1S):c.895T>C (p.Tyr299His) rs35856559 0.00797
NM_000069.3(CACNA1S):c.695-60C>T rs142962607 0.00790
NM_000069.3(CACNA1S):c.1620-27C>T rs114440565 0.00788
NM_000069.3(CACNA1S):c.3256-40G>T rs140285296 0.00739
NM_000069.3(CACNA1S):c.2063+275G>A rs115120991 0.00727
NM_000069.3(CACNA1S):c.1393+177G>A rs116258903 0.00722
NM_000069.3(CACNA1S):c.1150+94A>G rs114756384 0.00695
NM_000069.3(CACNA1S):c.3415-283T>C rs140140749 0.00674
NM_000069.3(CACNA1S):c.2361-13C>T rs2182117 0.00658
NM_000069.3(CACNA1S):c.1995C>T (p.Ala665=) rs16847664 0.00657
NM_000069.3(CACNA1S):c.3795+53T>G rs143117025 0.00617
NM_000069.3(CACNA1S):c.3811G>A (p.Ala1271Thr) rs138144724 0.00615
NM_000069.3(CACNA1S):c.3954-80C>A rs146379117 0.00614
NM_000069.3(CACNA1S):c.259-43C>T rs114176807 0.00611
NM_000069.3(CACNA1S):c.2063+253C>T rs115456118 0.00603
NM_000069.3(CACNA1S):c.2490+127A>G rs116109841 0.00596
NM_000069.3(CACNA1S):c.399-14C>T rs116534514 0.00590
NM_000069.3(CACNA1S):c.3053+170A>G rs185173649 0.00582
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.399-248A>C rs74981528 0.00557
NM_000069.3(CACNA1S):c.252C>T (p.Leu84=) rs112868209 0.00555
NM_000069.3(CACNA1S):c.3862-69G>A rs59596965 0.00543
NM_000069.3(CACNA1S):c.2158-283G>T rs188358124 0.00537
NM_000069.3(CACNA1S):c.4114-75A>G rs11809992 0.00535
NM_000069.3(CACNA1S):c.3861+131A>G rs187640240 0.00530
NM_000069.3(CACNA1S):c.3667-64G>A rs141306828 0.00520
NM_000069.3(CACNA1S):c.1005-154C>T rs188358034 0.00517
NM_000069.3(CACNA1S):c.*310A>T rs190783634 0.00503
NM_000069.3(CACNA1S):c.1233-40C>T rs180701604 0.00493
NM_000069.3(CACNA1S):c.2784C>T (p.Ile928=) rs143483718 0.00479
NM_000069.3(CACNA1S):c.2550+274C>T rs143334996 0.00478
NM_000069.3(CACNA1S):c.1828-57A>G rs115866349 0.00476
NM_000069.3(CACNA1S):c.5135-66C>T rs148664397 0.00476
NM_000069.3(CACNA1S):c.2360+281T>C rs115741326 0.00475
NM_000069.3(CACNA1S):c.5135-290G>A rs115307903 0.00474
NC_000001.11:g.201112814C>T rs114429229 0.00467
NM_000069.3(CACNA1S):c.2745+14C>T rs74138824 0.00464
NM_000069.3(CACNA1S):c.3415-30del rs148535810 0.00454
NM_000069.3(CACNA1S):c.4053A>G (p.Thr1351=) rs13376324 0.00448
NM_000069.3(CACNA1S):c.4441+33T>G rs199507117 0.00448
NM_000069.3(CACNA1S):c.3667-65C>T rs76527745 0.00420
NM_000069.3(CACNA1S):c.3053+148T>A rs76840709 0.00419
NM_000069.3(CACNA1S):c.2906+155G>A rs112142639 0.00411
NM_000069.3(CACNA1S):c.3953+7G>A rs141071505 0.00409
NM_000069.3(CACNA1S):c.3954-290G>A rs76304820 0.00399
NM_000069.3(CACNA1S):c.2658-206T>C rs573634357 0.00398
NM_000069.3(CACNA1S):c.1619+299C>A rs144563050 0.00396
NM_000069.3(CACNA1S):c.1232+142C>T rs116077336 0.00394
NM_000069.3(CACNA1S):c.2658-74G>C rs192846397 0.00393
NM_000069.3(CACNA1S):c.2157+233G>A rs371992281 0.00376
NM_000069.3(CACNA1S):c.4543+141C>T rs144505511 0.00369
NM_000069.3(CACNA1S):c.-60A>G rs145803564 0.00349
NM_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser) rs145910245 0.00349
NM_000069.3(CACNA1S):c.2550+156A>G rs115314061 0.00327
NM_000069.3(CACNA1S):c.4338+130C>A rs114661915 0.00315
NM_000069.3(CACNA1S):c.2854-198G>T rs535987356 0.00314
NM_000069.3(CACNA1S):c.2854-199T>C rs549897928 0.00314
NM_000069.3(CACNA1S):c.383C>G (p.Thr128Ser) rs139491817 0.00246
NM_000069.3(CACNA1S):c.5515C>T (p.Pro1839Ser) rs149547196 0.00241
NM_000069.3(CACNA1S):c.901-349G>C rs138145248 0.00230
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_000069.3(CACNA1S):c.2992G>A (p.Asp998Asn) rs116347156 0.00172
NM_000069.3(CACNA1S):c.4686T>C (p.Ile1562=) rs138423302 0.00170
NM_000069.3(CACNA1S):c.1005-29C>T rs2296385 0.00141
NM_000069.3(CACNA1S):c.2440G>A (p.Ala814Thr) rs139956524 0.00135
NM_000069.3(CACNA1S):c.5371-19C>T rs201064986 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

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