ClinVar Miner

List of variants in gene CACNA1C studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 912
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HGVS dbSNP gnomAD frequency
NM_000719.7(CACNA1C):c.5445-511= rs10774054 0.99951
NM_000719.7(CACNA1C):c.1895+304A>G rs1548732 0.98983
NM_000719.7(CACNA1C):c.2853+265G>C rs215983 0.94615
NM_000719.7(CACNA1C):c.6117+206G>A rs7956107 0.91563
NM_000719.7(CACNA1C):c.1508+317C>T rs2370598 0.88631
NM_000719.7(CACNA1C):c.1508+316G>A rs2370597 0.88628
NM_000719.7(CACNA1C):c.*284C>T rs11062319 0.83650
NM_000719.7(CACNA1C):c.1670-52C>T rs2370602 0.82155
NM_000719.7(CACNA1C):c.5445-584A>G rs10774053 0.80326
NM_000719.7(CACNA1C):c.5681-77C>T rs2270373 0.79539
NM_000719.7(CACNA1C):c.4727-231T>C rs7136355 0.76028
NM_000719.7(CACNA1C):c.5445-586C>T rs10848683 0.70684
NM_000719.7(CACNA1C):c.3945+83T>C rs2239127 0.70394
NM_000719.7(CACNA1C):c.4828+164T>C rs2302729 0.70353
NM_000719.7(CACNA1C):c.3945+96T>C rs2239128 0.70345
NM_000719.7(CACNA1C):c.3945+109C>T rs2239129 0.68534
NM_000719.7(CACNA1C):c.3946-98G>A rs216045 0.66649
NM_000719.7(CACNA1C):c.1508+205A>G rs2370596 0.65274
NM_000719.7(CACNA1C):c.4624-331A>G rs6489375 0.64324
NM_000719.7(CACNA1C):c.4399-79C>A rs2302728 0.61634
NM_000719.7(CACNA1C):c.50-162C>G rs2299661 0.61134
NM_000719.7(CACNA1C):c.1896-54G>A rs11832738 0.60150
NM_000719.7(CACNA1C):c.5361G>A (p.Thr1787=) rs1051375 0.57002
NM_000719.7(CACNA1C):c.4074+36G>A rs1990322 0.56695
NM_000719.7(CACNA1C):c.4233-136G>A rs7315556 0.55808
NM_000719.7(CACNA1C):c.1114-487A>G rs1008832 0.50604
NM_000719.7(CACNA1C):c.617+286T>C rs4765682 0.41807
NM_000719.7(CACNA1C):c.917-177G>A rs1541452 0.38280
NM_000719.7(CACNA1C):c.3946-298G>A rs216044 0.34322
NM_000719.7(CACNA1C):c.1114-679A>G rs11608740 0.33415
NM_000719.7(CACNA1C):c.1481+423G>A rs12304811 0.29414
NM_000719.7(CACNA1C):c.3913-270A>C rs216036 0.28066
NM_000719.7(CACNA1C):c.617+19T>C rs1544516 0.27158
NM_000719.7(CACNA1C):c.617+17G>A rs1544515 0.27035
NM_000719.7(CACNA1C):c.2793+187A>G rs215981 0.26946
NM_000719.7(CACNA1C):c.1390+243T>C rs2239100 0.26025
NM_000719.7(CACNA1C):c.3718-333T>C rs216006 0.20988
NM_000719.7(CACNA1C):c.3718-81T>C rs216007 0.20791
NM_000719.7(CACNA1C):c.3357-517T>C rs215994 0.20720
NM_000719.7(CACNA1C):c.3786C>T (p.Phe1262=) rs216008 0.20673
NM_000719.7(CACNA1C):c.3210-132C>T rs123263 0.20429
NM_000719.7(CACNA1C):c.3357-172G>T rs215995 0.19502
NM_000719.7(CACNA1C):c.3356+180C>T rs215993 0.18727
NM_000719.7(CACNA1C):c.-360G>A rs11062091 0.17877
NM_000719.7(CACNA1C):c.2853+457C>T rs215984 0.17782
NM_000719.7(CACNA1C):c.522G>A (p.Ala174=) rs1544514 0.16949
NM_000719.7(CACNA1C):c.5444+259A>G rs3794288 0.16837
NM_000719.7(CACNA1C):c.1508+264T>A rs4765959 0.16775
NM_000719.7(CACNA1C):c.5574-111T>G rs11062315 0.16775
NM_000719.7(CACNA1C):c.5444+439_5444+440insA rs35692616 0.16027
NM_000719.7(CACNA1C):c.5444+825A>G rs12299577 0.15913
NM_000719.7(CACNA1C):c.5444+827C>G rs12319450 0.15913
NM_000719.7(CACNA1C):c.4233-121A>G rs45555233 0.12174
NM_000719.7(CACNA1C):c.3209+129T>C rs215992 0.10242
NM_000719.7(CACNA1C):c.6118-79C>T rs55830098 0.10145
NM_000719.7(CACNA1C):c.478-137C>T rs7303824 0.09932
NM_000719.7(CACNA1C):c.1481+727C>T rs77367745 0.09544
NM_000719.7(CACNA1C):c.917-49C>G rs56412831 0.09242
NM_000719.7(CACNA1C):c.5574-174T>C rs2909053 0.08815
NM_000719.7(CACNA1C):c.2436C>T (p.Asp812=) rs215976 0.08744
NM_000719.7(CACNA1C):c.1481+743C>T rs79331677 0.08514
NM_000719.7(CACNA1C):c.4233-129T>G rs4765702 0.07532
NM_000719.7(CACNA1C):c.3157-90A>G rs758560 0.07002
NM_000719.7(CACNA1C):c.3717+69C>T rs55641425 0.06936
NM_000719.7(CACNA1C):c.4399-146C>A rs2302727 0.06866
NM_000719.7(CACNA1C):c.1114-292C>T rs2238087 0.06609
NM_000719.7(CACNA1C):c.1114-577G>A rs72653436 0.06587
NM_000719.7(CACNA1C):c.3913-6632A>G rs2239125 0.06503
NM_000719.7(CACNA1C):c.1896-126G>A rs77955861 0.06491
NM_000719.7(CACNA1C):c.5445-262A>G rs35176240 0.05988
NM_000719.7(CACNA1C):c.4829-145C>G rs12818148 0.05983
NM_000719.7(CACNA1C):c.5091+25C>T rs2302731 0.05880
NM_000719.7(CACNA1C):c.2339+104C>G rs74053838 0.05532
NM_000719.7(CACNA1C):c.4828+196G>T rs113957250 0.05280
NM_000719.7(CACNA1C):c.4726+258T>G rs57084902 0.05273
NM_000719.7(CACNA1C):c.2530+247T>C rs1107389 0.05009
NM_000719.7(CACNA1C):c.2531-169G>A rs58411337 0.04696
NM_000719.7(CACNA1C):c.2460+160T>G rs74053839 0.04668
NM_000719.7(CACNA1C):c.4038C>T (p.Ile1346=) rs56180838 0.04572
NM_000719.7(CACNA1C):c.5292C>T (p.Asn1764=) rs72552065 0.04512
NM_000719.7(CACNA1C):c.2854-337A>G rs74053877 0.04266
NM_000719.7(CACNA1C):c.4485T>C (p.Asp1495=) rs41276710 0.04216
NM_000719.7(CACNA1C):c.4727-190G>A rs11062308 0.04196
NM_000719.7(CACNA1C):c.1481+191G>A rs74053813 0.04192
NM_000719.7(CACNA1C):c.1218-66G>A rs2239098 0.03942
NM_000719.7(CACNA1C):c.1113+100C>G rs116184062 0.03886
NM_000719.7(CACNA1C):c.2340-72G>A rs11062281 0.03879
NM_000719.7(CACNA1C):c.5784+199G>A rs2270372 0.03693
NM_000719.7(CACNA1C):c.477+336C>T rs11832195 0.03679
NM_000719.7(CACNA1C):c.2104-311T>C rs11831766 0.03668
NM_000719.7(CACNA1C):c.5574-176C>T rs141720874 0.03610
NM_000719.7(CACNA1C):c.4957-207C>T rs111800411 0.03372
NM_000719.7(CACNA1C):c.4074+153G>A rs45616033 0.03195
NM_000719.7(CACNA1C):c.1482-296C>G rs140903845 0.03120
NM_000719.7(CACNA1C):c.1482-177A>G rs117791272 0.03118
NM_000719.7(CACNA1C):c.372-15G>A rs55792866 0.02977
NM_000719.7(CACNA1C):c.2853+440G>A rs113064994 0.02504
NM_000719.7(CACNA1C):c.1481+189C>T rs74053812 0.02456
NM_000719.7(CACNA1C):c.1114-587G>A rs17223925 0.02407
NM_000719.7(CACNA1C):c.3829-525A>G rs216022 0.02342
NM_000719.7(CACNA1C):c.1390+188A>G rs74053493 0.02322
NM_000719.7(CACNA1C):c.916+207G>A rs61909400 0.02309
NM_000719.7(CACNA1C):c.2663+79C>T rs77802779 0.02186
NM_000719.7(CACNA1C):c.5784+149G>A rs113077320 0.02145
NM_000719.7(CACNA1C):c.4829-298A>G rs73247435 0.02137
NM_000719.7(CACNA1C):c.758-190G>T rs115760348 0.02135
NM_000719.7(CACNA1C):c.5091+189A>C rs61593551 0.02134
NM_000719.7(CACNA1C):c.1218-210C>T rs60005265 0.02105
NM_000719.7(CACNA1C):c.1113+186C>T rs115098369 0.02063
NM_000719.7(CACNA1C):c.1669+54G>A rs2283325 0.02059
NM_000719.7(CACNA1C):c.5445-170A>G rs112910593 0.01972
NM_000719.7(CACNA1C):c.2794-136G>T rs56269265 0.01925
NM_000719.7(CACNA1C):c.917-185A>G rs7961759 0.01896
NM_000719.7(CACNA1C):c.1113+26A>C rs149699136 0.01872
NM_000719.7(CACNA1C):c.3718-216G>A rs117621166 0.01860
NM_000719.7(CACNA1C):c.3946-137A>C rs170021 0.01819
NM_000719.7(CACNA1C):c.5680+15C>T rs114036394 0.01782
NM_000719.7(CACNA1C):c.4398+249A>G rs115860457 0.01739
NM_000719.7(CACNA1C):c.2530+66C>T rs56291949 0.01731
NM_000719.7(CACNA1C):c.3049-92G>A rs41276704 0.01731
NM_000719.7(CACNA1C):c.5649G>A (p.Pro1883=) rs56270948 0.01676
NM_000719.7(CACNA1C):c.757+305T>G rs116415152 0.01653
NM_000719.7(CACNA1C):c.4957-48_4957-41dup rs398102378 0.01624
NM_000719.7(CACNA1C):c.5383G>A (p.Gly1795Arg) rs111298509 0.01614
NM_000719.7(CACNA1C):c.4624-297A>G rs73247430 0.01602
NM_000719.7(CACNA1C):c.171C>T (p.Asp57=) rs34419050 0.01584
NM_000719.7(CACNA1C):c.371+121C>T rs117659417 0.01578
NM_000719.7(CACNA1C):c.5445-186T>C rs16927954 0.01551
NM_000719.7(CACNA1C):c.2663+188C>T rs117244626 0.01535
NM_000719.7(CACNA1C):c.1114-145A>G rs114000334 0.01517
NM_000719.7(CACNA1C):c.4232+268G>A rs116161853 0.01490
NM_000719.7(CACNA1C):c.5784+64C>T rs112940259 0.01445
NM_000719.7(CACNA1C):c.5092-109A>G rs113122343 0.01437
NM_000719.7(CACNA1C):c.213G>A (p.Ala71=) rs113869350 0.01399
NM_000719.7(CACNA1C):c.371+230A>C rs112435887 0.01390
NM_000719.7(CACNA1C):c.50-147C>T rs112230077 0.01380
NM_000719.7(CACNA1C):c.4527-151C>T rs77773628 0.01290
NM_000719.7(CACNA1C):c.1390+104C>T rs143490559 0.01174
NM_000719.7(CACNA1C):c.4527-67C>T rs114987339 0.01042
NM_000719.7(CACNA1C):c.2853+438C>T rs542898718 0.01007
NM_000719.7(CACNA1C):c.3718-131C>T rs34766864 0.00969
NM_000719.7(CACNA1C):c.5604A>G (p.Gln1868=) rs11062316 0.00963
NM_000719.7(CACNA1C):c.3559-259C>T rs115763383 0.00915
NM_000719.7(CACNA1C):c.771C>T (p.Val257=) rs112315742 0.00908
NM_000719.7(CACNA1C):c.2103+190A>G rs150289490 0.00877
NM_000719.7(CACNA1C):c.3913-300T>C rs73243593 0.00877
NM_000719.7(CACNA1C):c.1113+78C>T rs112041316 0.00859
NM_000719.7(CACNA1C):c.1114-438T>G rs148469662 0.00825
NM_000719.7(CACNA1C):c.371+17G>A rs78645318 0.00797
NM_000719.7(CACNA1C):c.372-171C>T rs112561512 0.00766
NM_000719.7(CACNA1C):c.2854-333C>T rs114405967 0.00765
NM_000719.7(CACNA1C):c.4075-159C>T rs41276708 0.00756
NM_000719.7(CACNA1C):c.3157-51T>C rs111487482 0.00727
NM_000719.7(CACNA1C):c.3209+112G>A rs112353655 0.00726
NM_000719.7(CACNA1C):c.5097C>T (p.Ala1699=) rs113595214 0.00709
NM_000719.7(CACNA1C):c.916+21C>T rs142039612 0.00690
NM_000719.7(CACNA1C):c.5445-841_5445-840insCTC rs1162703492 0.00684
NM_000719.7(CACNA1C):c.3049-126C>T rs112427283 0.00670
NM_000719.7(CACNA1C):c.3945+212C>T rs143713629 0.00669
NM_000719.7(CACNA1C):c.758-38G>A rs148596266 0.00652
NM_000719.7(CACNA1C):c.2794-229G>A rs184809240 0.00642
NM_000719.7(CACNA1C):c.2853+448G>A rs181538315 0.00633
NM_000719.7(CACNA1C):c.3114G>C (p.Leu1038=) rs114139824 0.00585
NM_000719.7(CACNA1C):c.1218-214C>T rs145718507 0.00583
NM_000719.7(CACNA1C):c.5139C>T (p.Asp1713=) rs115216455 0.00556
NM_000719.7(CACNA1C):c.916+63C>T rs151143736 0.00546
NM_000719.7(CACNA1C):c.916+65C>T rs140273028 0.00541
NM_000719.7(CACNA1C):c.3387G>A (p.Thr1129=) rs188224114 0.00525
NM_000719.7(CACNA1C):c.3357-27C>A rs181984259 0.00489
NM_000719.7(CACNA1C):c.758-288A>G rs189856321 0.00476
NM_000719.7(CACNA1C):c.5064C>T (p.Ser1688=) rs139872789 0.00449
NM_000719.7(CACNA1C):c.1217+154G>C rs376431932 0.00446
NM_000719.7(CACNA1C):c.5091+18G>A rs143343491 0.00423
NM_000719.7(CACNA1C):c.1113+81C>T rs115182556 0.00371
NM_000719.7(CACNA1C):c.917-57G>A rs187330386 0.00360
NM_000719.7(CACNA1C):c.5092-40C>T rs116177151 0.00356
NM_000719.7(CACNA1C):c.5360C>T (p.Thr1787Met) rs192749597 0.00353
NM_000719.7(CACNA1C):c.4828+204C>T rs146745187 0.00349
NM_000719.7(CACNA1C):c.109G>A (p.Gly37Arg) rs34534613 0.00346
NM_000719.7(CACNA1C):c.2103+140G>A rs141442943 0.00343
NM_000719.7(CACNA1C):c.3157-175C>T rs146526882 0.00338
NM_000719.7(CACNA1C):c.4399-231C>T rs182409184 0.00307
NM_000719.7(CACNA1C):c.2449C>T (p.Pro817Ser) rs112532048 0.00279
NM_000719.7(CACNA1C):c.5092-221G>A rs188970327 0.00267
NM_000719.7(CACNA1C):c.5444+47C>A rs202196126 0.00255
NM_000719.7(CACNA1C):c.2531-187C>T rs186600638 0.00245
NM_000719.7(CACNA1C):c.4623+13G>A rs111734850 0.00241
NM_000719.7(CACNA1C):c.5574-21C>T rs377265606 0.00223
NM_000719.7(CACNA1C):c.-181G>A rs112412740 0.00212
NM_000719.7(CACNA1C):c.1176G>T (p.Gly392=) rs1051360 0.00209
NM_000719.7(CACNA1C):c.1794C>T (p.Gly598=) rs116491041 0.00200
NM_000719.7(CACNA1C):c.4829-7G>A rs137904817 0.00194
NM_000719.7(CACNA1C):c.5665C>T (p.Arg1889Cys) rs185788586 0.00182
NM_000719.7(CACNA1C):c.1669+10G>A rs576194052 0.00175
NM_001167623.2(CACNA1C):c.3883A>G (p.Ile1295Val) rs114851656 0.00169
NM_000719.7(CACNA1C):c.1113+23C>A rs142826660 0.00166
NM_000719.7(CACNA1C):c.4624-9C>T rs377568567 0.00163
NM_000719.7(CACNA1C):c.5918G>A (p.Arg1973Gln) rs112414325 0.00140
NM_000719.7(CACNA1C):c.3780C>A (p.Gly1260=) rs201258230 0.00131
NM_000719.7(CACNA1C):c.1895+85G>A rs189312629 0.00125
NM_000719.7(CACNA1C):c.4141-229C>T rs759016757 0.00124
NM_000719.7(CACNA1C):c.724C>T (p.Leu242=) rs200800133 0.00120
NM_000719.7(CACNA1C):c.1074G>A (p.Gln358=) rs139842134 0.00113
NM_000719.7(CACNA1C):c.-224T>C rs531589437 0.00104
NM_000719.7(CACNA1C):c.4956+17G>A rs200706151 0.00103
NM_000719.7(CACNA1C):c.5609C>T (p.Thr1870Met) rs201777030 0.00102
NM_000719.7(CACNA1C):c.3642C>T (p.Tyr1214=) rs56394008 0.00096
NM_000719.7(CACNA1C):c.5199G>A (p.Ala1733=) rs200638007 0.00096
NM_000719.7(CACNA1C):c.3049-10C>T rs186741807 0.00093
NM_000719.7(CACNA1C):c.4611C>T (p.Arg1537=) rs372702466 0.00088
NM_000719.7(CACNA1C):c.3234C>T (p.Asp1078=) rs111606207 0.00083
NM_000719.7(CACNA1C):c.1509-43A>G rs534697569 0.00075
NM_000719.7(CACNA1C):c.6272A>G (p.Asn2091Ser) rs201090446 0.00074
NM_000719.7(CACNA1C):c.3945+37G>A rs139691733 0.00071
NM_000719.7(CACNA1C):c.911T>C (p.Ile304Thr) rs201756421 0.00066
NM_000719.7(CACNA1C):c.1359C>T (p.Asp453=) rs200330469 0.00063
NM_000719.7(CACNA1C):c.5451C>T (p.His1817=) rs113239186 0.00063
NM_000719.7(CACNA1C):c.1707A>G (p.Ala569=) rs375534041 0.00062
NM_000719.7(CACNA1C):c.4957-32G>A rs79058062 0.00059
NM_000719.7(CACNA1C):c.4317C>T (p.Asn1439=) rs183192651 0.00058
NM_000719.7(CACNA1C):c.5391C>G (p.Pro1797=) rs376124689 0.00058
NM_000719.7(CACNA1C):c.3156+17G>A rs201709484 0.00052
NM_000719.7(CACNA1C):c.5150C>G (p.Ala1717Gly) rs201492706 0.00048
NM_000719.7(CACNA1C):c.537C>T (p.Ile179=) rs369673473 0.00048
NM_000719.7(CACNA1C):c.2766G>A (p.Pro922=) rs184684058 0.00045
NM_000719.7(CACNA1C):c.966C>T (p.His322=) rs112539787 0.00042
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg) rs121912775 0.00036
NM_000719.7(CACNA1C):c.5639G>A (p.Arg1880Gln) rs182208896 0.00036
NM_000719.7(CACNA1C):c.5444G>C (p.Arg1815Thr) rs374425919 0.00033
NM_000719.7(CACNA1C):c.6161A>G (p.Lys2054Arg) rs200588235 0.00032
NM_000719.7(CACNA1C):c.4641C>T (p.Asn1547=) rs202194703 0.00031
NM_000719.7(CACNA1C):c.2460+6G>A rs369246066 0.00029
NM_000719.7(CACNA1C):c.5149G>A (p.Ala1717Thr) rs200865354 0.00029
NM_000719.7(CACNA1C):c.984C>T (p.Asn328=) rs374050127 0.00029
NM_000719.7(CACNA1C):c.2531-34G>A rs141278139 0.00027
NM_000719.7(CACNA1C):c.846C>T (p.Tyr282=) rs200847105 0.00027
NM_000719.7(CACNA1C):c.2280G>A (p.Glu760=) rs141633456 0.00025
NM_000719.7(CACNA1C):c.3747C>T (p.Ile1249=) rs370576211 0.00025
NM_000719.7(CACNA1C):c.618G>A (p.Gly206=) rs200602896 0.00025
NM_000719.7(CACNA1C):c.1485C>A (p.His495Gln) rs373335068 0.00024
NM_000719.7(CACNA1C):c.5975G>T (p.Cys1992Phe) rs375818733 0.00024
NM_000719.7(CACNA1C):c.5478G>A (p.Ala1826=) rs200283756 0.00023
NM_000719.7(CACNA1C):c.3946-12G>A rs41276706 0.00021
NM_000719.7(CACNA1C):c.2067C>T (p.Phe689=) rs112170830 0.00020
NM_000719.7(CACNA1C):c.2391G>A (p.Gly797=) rs374857905 0.00019
NM_000719.7(CACNA1C):c.3913-22C>G rs150777919 0.00019
NM_000719.7(CACNA1C):c.1783G>A (p.Val595Ile) rs201392574 0.00018
NM_000719.7(CACNA1C):c.4140+4G>A rs111442547 0.00018
NM_000719.7(CACNA1C):c.1419C>T (p.Ser473=) rs368065584 0.00017
NM_000719.7(CACNA1C):c.4122C>T (p.Tyr1374=) rs146868811 0.00017
NM_000719.7(CACNA1C):c.5106G>A (p.Leu1702=) rs541967618 0.00017
NM_000719.7(CACNA1C):c.4944G>A (p.Ala1648=) rs200330326 0.00016
NM_000719.7(CACNA1C):c.5119G>A (p.Val1707Ile) rs147896322 0.00016
NM_000719.7(CACNA1C):c.6344G>C (p.Gly2115Ala) rs199694744 0.00016
NM_000719.7(CACNA1C):c.5444+599C>A rs551355331 0.00015
NM_000719.7(CACNA1C):c.5644T>C (p.Ser1882Pro) rs369438564 0.00015
NM_000719.7(CACNA1C):c.6040G>A (p.Val2014Ile) rs199473660 0.00015
NM_000719.7(CACNA1C):c.1002C>T (p.Pro334=) rs112002520 0.00014
NM_000719.7(CACNA1C):c.202G>A (p.Ala68Thr) rs752000790 0.00014
NM_000719.7(CACNA1C):c.4075-4C>A rs369044605 0.00014
NM_000719.7(CACNA1C):c.4322C>T (p.Thr1441Met) rs727503835 0.00014
NM_000719.7(CACNA1C):c.5593G>A (p.Glu1865Lys) rs200231105 0.00012
NM_000719.7(CACNA1C):c.4727-9G>A rs757966245 0.00011
NM_000719.7(CACNA1C):c.4942G>A (p.Ala1648Thr) rs370432385 0.00011
NM_000719.7(CACNA1C):c.1872G>A (p.Leu624=) rs202227691 0.00010
NM_000719.7(CACNA1C):c.1953C>T (p.Ile651=) rs762656408 0.00010
NM_000719.7(CACNA1C):c.4624-8G>A rs529345041 0.00010
NM_000719.7(CACNA1C):c.5022C>T (p.Thr1674=) rs372300407 0.00010
NM_000719.7(CACNA1C):c.5717G>A (p.Arg1906Gln) rs758166168 0.00010
NM_000719.7(CACNA1C):c.865C>A (p.Leu289Ile) rs770311259 0.00010
NM_000719.7(CACNA1C):c.1341C>T (p.Ile447=) rs377643814 0.00009
NM_000719.7(CACNA1C):c.1509-12T>G rs200412525 0.00009
NM_000719.7(CACNA1C):c.3969C>T (p.Ile1323=) rs201345843 0.00009
NM_000719.7(CACNA1C):c.459C>T (p.Asn153=) rs367638447 0.00009
NM_000719.7(CACNA1C):c.4659C>T (p.Asp1553=) rs563090568 0.00009
NM_000719.7(CACNA1C):c.5138A>G (p.Asp1713Gly) rs769297492 0.00009
NM_000719.7(CACNA1C):c.5235C>T (p.His1745=) rs201861473 0.00009
NM_000719.7(CACNA1C):c.5550G>A (p.Glu1850=) rs367783859 0.00009
NM_000719.7(CACNA1C):c.6116C>G (p.Ala2039Gly) rs549476254 0.00009
NM_000719.7(CACNA1C):c.906G>A (p.Glu302=) rs367860917 0.00009
NM_000719.7(CACNA1C):c.927A>G (p.Ala309=) rs369079645 0.00009
NM_000719.7(CACNA1C):c.1753G>A (p.Val585Met) rs763738559 0.00008
NM_000719.7(CACNA1C):c.5284G>C (p.Gly1762Arg) rs374863121 0.00008
NM_000719.7(CACNA1C):c.5529T>C (p.His1843=) rs371831239 0.00008
NM_000719.7(CACNA1C):c.135C>G (p.Thr45=) rs749123185 0.00007
NM_000719.7(CACNA1C):c.2232A>C (p.Leu744=) rs370145265 0.00007
NM_000719.7(CACNA1C):c.2566G>A (p.Gly856Ser) rs145549773 0.00007
NM_000719.7(CACNA1C):c.2854-4G>A rs113929946 0.00007
NM_000719.7(CACNA1C):c.3200C>T (p.Ala1067Val) rs750998195 0.00007
NM_000719.7(CACNA1C):c.4068C>T (p.Ser1356=) rs765091519 0.00007
NM_000719.7(CACNA1C):c.5091+3G>A rs372915169 0.00007
NM_000719.7(CACNA1C):c.5671G>C (p.Ala1891Pro) rs542914369 0.00007
NM_000719.7(CACNA1C):c.6388G>A (p.Asp2130Asn) rs199473392 0.00007
NM_000719.7(CACNA1C):c.1669+6C>T rs770007601 0.00006
NM_000719.7(CACNA1C):c.1686C>T (p.Ala562=) rs748256548 0.00006
NM_000719.7(CACNA1C):c.2350C>T (p.Pro784Ser) rs749935207 0.00006
NM_000719.7(CACNA1C):c.3357-16C>A rs201876309 0.00006
NM_000719.7(CACNA1C):c.3679G>A (p.Val1227Ile) rs373124557 0.00006
NM_000719.7(CACNA1C):c.4500C>A (p.Ile1500=) rs752697651 0.00006
NM_000719.7(CACNA1C):c.5407C>T (p.Arg1803Trp) rs113157354 0.00006
NM_000719.7(CACNA1C):c.5423C>T (p.Ala1808Val) rs745997744 0.00006
NM_000719.7(CACNA1C):c.5445-591C>T rs759718401 0.00006
NM_000719.7(CACNA1C):c.6339C>T (p.Asp2113=) rs374843203 0.00006
NM_000719.7(CACNA1C):c.6342G>A (p.Ala2114=) rs368073321 0.00006
NM_000719.7(CACNA1C):c.959C>T (p.Thr320Met) rs377737331 0.00006
NM_000719.7(CACNA1C):c.101C>T (p.Ala34Val) rs551396698 0.00005
NM_000719.7(CACNA1C):c.107C>T (p.Ala36Val) rs755028000 0.00005
NM_000719.7(CACNA1C):c.1673C>T (p.Thr558Met) rs572234918 0.00005
NM_000719.7(CACNA1C):c.3946-51C>T rs202216172 0.00005
NM_000719.7(CACNA1C):c.5144G>A (p.Arg1715Gln) rs376706496 0.00005
NM_000719.7(CACNA1C):c.5931C>T (p.Val1977=) rs757236915 0.00005
NM_000719.7(CACNA1C):c.990G>A (p.Thr330=) rs371837699 0.00005
NM_000719.7(CACNA1C):c.1065G>A (p.Thr355=) rs757055492 0.00004
NM_000719.7(CACNA1C):c.1104G>A (p.Val368=) rs377274770 0.00004
NM_000719.7(CACNA1C):c.1114-10G>A rs371725005 0.00004
NM_000719.7(CACNA1C):c.1477C>A (p.Leu493Met) rs376530064 0.00004
NM_000719.7(CACNA1C):c.1487G>A (p.Arg496Gln) rs369255950 0.00004
NM_000719.7(CACNA1C):c.1554C>T (p.Arg518=) rs398123517 0.00004
NM_000719.7(CACNA1C):c.1555G>A (p.Ala519Thr) rs371702432 0.00004
NM_000719.7(CACNA1C):c.1620C>T (p.Thr540=) rs893883530 0.00004
NM_000719.7(CACNA1C):c.2327A>G (p.Lys776Arg) rs786205751 0.00004
NM_000719.7(CACNA1C):c.2664-7C>T rs575664788 0.00004
NM_000719.7(CACNA1C):c.2853+189A>G rs370050438 0.00004
NM_000719.7(CACNA1C):c.2960+15C>T rs769108641 0.00004
NM_000719.7(CACNA1C):c.300G>A (p.Pro100=) rs764323907 0.00004
NM_000719.7(CACNA1C):c.3201G>A (p.Ala1067=) rs758461435 0.00004
NM_000719.7(CACNA1C):c.3567C>T (p.Cys1189=) rs202058956 0.00004
NM_000719.7(CACNA1C):c.3717+11G>A rs763622598 0.00004
NM_000719.7(CACNA1C):c.3945+18G>A rs775246723 0.00004
NM_000719.7(CACNA1C):c.4128G>A (p.Val1376=) rs377173101 0.00004
NM_000719.7(CACNA1C):c.4170C>T (p.Thr1390=) rs587780878 0.00004
NM_000719.7(CACNA1C):c.4727-61G>A rs761831470 0.00004
NM_000719.7(CACNA1C):c.478-19T>G rs571558332 0.00004
NM_000719.7(CACNA1C):c.5120T>C (p.Val1707Ala) rs531161884 0.00004
NM_000719.7(CACNA1C):c.5136C>T (p.Ser1712=) rs780871697 0.00004
NM_000719.7(CACNA1C):c.5277G>A (p.Ser1759=) rs371931644 0.00004
NM_000719.7(CACNA1C):c.5424G>A (p.Ala1808=) rs587780881 0.00004
NM_000719.7(CACNA1C):c.6001G>A (p.Gly2001Ser) rs552478740 0.00004
NM_000719.7(CACNA1C):c.828G>A (p.Leu276=) rs540934161 0.00004
NM_000719.7(CACNA1C):c.855C>T (p.Ile285=) rs752809686 0.00004
NM_000719.7(CACNA1C):c.1486C>T (p.Arg496Trp) rs760888275 0.00003
NM_000719.7(CACNA1C):c.1520G>A (p.Arg507His) rs768830617 0.00003
NM_000719.7(CACNA1C):c.1693G>A (p.Ala565Thr) rs777945001 0.00003
NM_000719.7(CACNA1C):c.1823C>T (p.Thr608Ile) rs757507674 0.00003
NM_000719.7(CACNA1C):c.2229C>A (p.Ile743=) rs759734767 0.00003
NM_000719.7(CACNA1C):c.2396C>A (p.Ser799Tyr) rs398123519 0.00003
NM_000719.7(CACNA1C):c.2813T>C (p.Ile938Thr) rs377165829 0.00003
NM_000719.7(CACNA1C):c.3157-7C>T rs759274364 0.00003
NM_000719.7(CACNA1C):c.3295G>A (p.Asp1099Asn) rs771549676 0.00003
NM_000719.7(CACNA1C):c.3531C>T (p.Tyr1177=) rs754527651 0.00003
NM_000719.7(CACNA1C):c.3943A>G (p.Met1315Val) rs756734279 0.00003
NM_000719.7(CACNA1C):c.3946-45C>G rs201551454 0.00003
NM_000719.7(CACNA1C):c.3946-81C>A rs747140717 0.00003
NM_000719.7(CACNA1C):c.3946-84G>A rs369414971 0.00003
NM_000719.7(CACNA1C):c.4727-10C>T rs749903718 0.00003
NM_000719.7(CACNA1C):c.4956+13G>A rs199753929 0.00003
NM_000719.7(CACNA1C):c.50-3C>T rs780161540 0.00003
NM_000719.7(CACNA1C):c.5091+8G>A rs768117202 0.00003
NM_000719.7(CACNA1C):c.5092-5T>C rs760689991 0.00003
NM_000719.7(CACNA1C):c.5098G>A (p.Gly1700Ser) rs761966966 0.00003
NM_000719.7(CACNA1C):c.5140G>A (p.Gly1714Ser) rs533676935 0.00003
NM_000719.7(CACNA1C):c.5307C>T (p.Asn1769=) rs530924728 0.00003
NM_000719.7(CACNA1C):c.5382C>T (p.His1794=) rs377680168 0.00003
NM_000719.7(CACNA1C):c.5444+723C>T rs750984838 0.00003
NM_000719.7(CACNA1C):c.5444+795G>A rs755443764 0.00003
NM_000719.7(CACNA1C):c.5445-10G>A rs368236368 0.00003
NM_000719.7(CACNA1C):c.5492C>T (p.Thr1831Met) rs186015395 0.00003
NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg) rs374528680 0.00003
NM_000719.7(CACNA1C):c.5895C>T (p.Pro1965=) rs200227029 0.00003
NM_000719.7(CACNA1C):c.6059G>A (p.Ser2020Asn) rs373503739 0.00003
NM_000719.7(CACNA1C):c.6239A>G (p.Asn2080Ser) rs886049209 0.00003
NM_000719.7(CACNA1C):c.1342G>A (p.Asp448Asn) rs786205746 0.00002
NM_000719.7(CACNA1C):c.1968T>A (p.Leu656=) rs375950982 0.00002
NM_000719.7(CACNA1C):c.2437G>A (p.Gly813Arg) rs545511851 0.00002
NM_000719.7(CACNA1C):c.2795T>C (p.Ile932Thr) rs786205756 0.00002
NM_000719.7(CACNA1C):c.3156+6G>C rs398123520 0.00002
NM_000719.7(CACNA1C):c.3424A>C (p.Ile1142Leu) rs752247655 0.00002
NM_000719.7(CACNA1C):c.3654C>T (p.Ser1218=) rs776884902 0.00002
NM_000719.7(CACNA1C):c.372-9C>G rs367763190 0.00002
NM_000719.7(CACNA1C):c.3748G>A (p.Ala1250Thr) rs373930708 0.00002
NM_000719.7(CACNA1C):c.3752T>C (p.Met1251Thr) rs1431157754 0.00002
NM_000719.7(CACNA1C):c.3912+14G>A rs372728453 0.00002
NM_000719.7(CACNA1C):c.408C>T (p.Ala136=) rs769295096 0.00002
NM_000719.7(CACNA1C):c.4578G>A (p.Pro1526=) rs376555924 0.00002
NM_000719.7(CACNA1C):c.460G>A (p.Ala154Thr) rs1064796583 0.00002
NM_000719.7(CACNA1C):c.5065G>A (p.Ala1689Thr) rs368700869 0.00002
NM_000719.7(CACNA1C):c.512C>T (p.Thr171Met) rs199586997 0.00002
NM_000719.7(CACNA1C):c.5148C>T (p.Ser1716=) rs371262001 0.00002
NM_000719.7(CACNA1C):c.5198C>T (p.Ala1733Val) rs201049603 0.00002
NM_000719.7(CACNA1C):c.5217C>T (p.Asp1739=) rs864622139 0.00002
NM_000719.7(CACNA1C):c.5236G>A (p.Glu1746Lys) rs759468937 0.00002
NM_000719.7(CACNA1C):c.5329C>T (p.Arg1777Cys) rs775251529 0.00002
NM_000719.7(CACNA1C):c.538G>A (p.Ala180Thr) rs786205769 0.00002
NM_000719.7(CACNA1C):c.5398C>T (p.Pro1800Ser) rs921032597 0.00002
NM_000719.7(CACNA1C):c.5456G>A (p.Arg1819Gln) rs764212214 0.00002
NM_000719.7(CACNA1C):c.666C>T (p.Asn222=) rs527741368 0.00002
NM_000719.7(CACNA1C):c.70C>T (p.Arg24Cys) rs773211348 0.00002
NM_000719.7(CACNA1C):c.71G>A (p.Arg24His) rs200941579 0.00002
NM_000719.7(CACNA1C):c.810C>T (p.His270=) rs780247399 0.00002
NM_000719.7(CACNA1C):c.864G>A (p.Glu288=) rs749309131 0.00002
NM_000719.7(CACNA1C):c.989C>T (p.Thr330Met) rs377345545 0.00002
NM_000719.7(CACNA1C):c.-3T>C rs761790520 0.00001
NM_000719.7(CACNA1C):c.108G>A (p.Ala36=) rs781395450 0.00001
NM_000719.7(CACNA1C):c.1097C>T (p.Thr366Met) rs1429990170 0.00001
NM_000719.7(CACNA1C):c.1098G>A (p.Thr366=) rs372622798 0.00001
NM_000719.7(CACNA1C):c.1113+4C>T rs747800763 0.00001
NM_000719.7(CACNA1C):c.1114-417C>T rs746270394 0.00001
NM_000719.7(CACNA1C):c.1251C>T (p.Ala417=) rs751902029 0.00001
NM_000719.7(CACNA1C):c.130C>G (p.Pro44Ala) rs1057518456 0.00001
NM_000719.7(CACNA1C):c.1384C>G (p.Arg462Gly) rs761430418 0.00001
NM_000719.7(CACNA1C):c.1428C>T (p.Thr476=) rs750843602 0.00001
NM_000719.7(CACNA1C):c.1435G>A (p.Val479Met) rs752677964 0.00001
NM_000719.7(CACNA1C):c.1453G>A (p.Glu485Lys) rs763065970 0.00001
NM_000719.7(CACNA1C):c.1481C>T (p.Ala494Val) rs762879256 0.00001
NM_000719.7(CACNA1C):c.1516T>G (p.Trp506Gly) rs975289385 0.00001
NM_000719.7(CACNA1C):c.153G>A (p.Ser51=) rs563315606 0.00001
NM_000719.7(CACNA1C):c.1553G>A (p.Arg518His) rs1057517711 0.00001
NM_000719.7(CACNA1C):c.1670-14C>T rs1184132854 0.00001
NM_000719.7(CACNA1C):c.168C>T (p.Ile56=) rs763760402 0.00001
NM_000719.7(CACNA1C):c.169G>A (p.Asp57Asn) rs773528195 0.00001
NM_000719.7(CACNA1C):c.1703C>T (p.Thr568Met) rs749561588 0.00001
NM_000719.7(CACNA1C):c.1749C>T (p.Tyr583=) rs375155518 0.00001
NM_000719.7(CACNA1C):c.1752C>T (p.Phe584=) rs886043677 0.00001
NM_000719.7(CACNA1C):c.1768C>T (p.Arg590Cys) rs776145143 0.00001
NM_000719.7(CACNA1C):c.1864G>A (p.Val622Ile) rs768270021 0.00001
NM_000719.7(CACNA1C):c.2068G>A (p.Asp690Asn) rs369638898 0.00001
NM_000719.7(CACNA1C):c.2073C>T (p.Asn691=) rs794727117 0.00001
NM_000719.7(CACNA1C):c.230G>T (p.Ser77Ile) rs536377458 0.00001
NM_000719.7(CACNA1C):c.236C>T (p.Thr79Met) rs749031775 0.00001
NM_000719.7(CACNA1C):c.2381C>T (p.Pro794Leu) rs771393283 0.00001
NM_000719.7(CACNA1C):c.2390G>C (p.Gly797Ala) rs1200916501 0.00001
NM_000719.7(CACNA1C):c.2430G>A (p.Thr810=) rs775571017 0.00001
NM_000719.7(CACNA1C):c.2451C>T (p.Pro817=) rs1257316721 0.00001
NM_000719.7(CACNA1C):c.2517C>A (p.Asn839Lys) rs774002530 0.00001
NM_000719.7(CACNA1C):c.2565C>T (p.Val855=) rs760390307 0.00001
NM_000719.7(CACNA1C):c.2569C>G (p.Pro857Ala) rs1391136601 0.00001
NM_000719.7(CACNA1C):c.2579G>A (p.Arg860Gln) rs730880056 0.00001
NM_000719.7(CACNA1C):c.257A>G (p.Tyr86Cys) rs768230910 0.00001
NM_000719.7(CACNA1C):c.2837T>C (p.Ile946Thr) rs747728381 0.00001
NM_000719.7(CACNA1C):c.2854-10C>G rs767334396 0.00001
NM_000719.7(CACNA1C):c.2975A>G (p.Asn992Ser) rs1555878870 0.00001
NM_000719.7(CACNA1C):c.2T>C (p.Met1Thr) rs761378545 0.00001
NM_000719.7(CACNA1C):c.3075C>T (p.Ala1025=) rs375813950 0.00001
NM_000719.7(CACNA1C):c.3220A>G (p.Ile1074Val) rs786205779 0.00001
NM_000719.7(CACNA1C):c.3235G>A (p.Gly1079Arg) rs781440831 0.00001
NM_000719.7(CACNA1C):c.3258C>T (p.Ile1086=) rs757290350 0.00001
NM_000719.7(CACNA1C):c.3331G>A (p.Val1111Ile) rs766023530 0.00001
NM_000719.7(CACNA1C):c.3375C>T (p.Ile1125=) rs398123521 0.00001
NM_000719.7(CACNA1C):c.3489C>G (p.Gly1163=) rs1057522786 0.00001
NM_000719.7(CACNA1C):c.3558+10dup rs1555884916 0.00001
NM_000719.7(CACNA1C):c.3560G>A (p.Arg1187Gln) rs368861681 0.00001
NM_000719.7(CACNA1C):c.3576C>T (p.Tyr1192=) rs376481211 0.00001
NM_000719.7(CACNA1C):c.3599G>A (p.Arg1200Gln) rs369686855 0.00001
NM_000719.7(CACNA1C):c.363C>T (p.Val121=) rs886042281 0.00001
NM_000719.7(CACNA1C):c.3691C>T (p.Leu1231Phe) rs766971426 0.00001
NM_000719.7(CACNA1C):c.3790G>A (p.Val1264Met) rs760543068 0.00001
NM_000719.7(CACNA1C):c.37G>A (p.Glu13Lys) rs754656999 0.00001
NM_000719.7(CACNA1C):c.3874G>T (p.Val1292Leu) rs777138966 0.00001
NM_000719.7(CACNA1C):c.3949G>A (p.Ala1317Thr) rs749588699 0.00001
NM_000719.7(CACNA1C):c.4040G>A (p.Arg1347Gln) rs777058699 0.00001
NM_000719.7(CACNA1C):c.4074+6C>T rs762974366 0.00001
NM_000719.7(CACNA1C):c.4131C>T (p.Ile1377=) rs770774627 0.00001
NM_000719.7(CACNA1C):c.4215C>T (p.Ala1405=) rs768068080 0.00001
NM_000719.7(CACNA1C):c.4309C>T (p.Pro1437Ser) rs398123522 0.00001
NM_000719.7(CACNA1C):c.4323G>A (p.Thr1441=) rs753892795 0.00001
NM_000719.7(CACNA1C):c.4790G>C (p.Ser1597Thr) rs1356292633 0.00001
NM_000719.7(CACNA1C):c.482G>A (p.Arg161Gln) rs777210376 0.00001
NM_000719.7(CACNA1C):c.4927C>T (p.Pro1643Ser) rs786205764 0.00001
NM_000719.7(CACNA1C):c.5023G>A (p.Ala1675Thr) rs773930851 0.00001
NM_000719.7(CACNA1C):c.5044G>A (p.Ala1682Thr) rs746554838 0.00001
NM_000719.7(CACNA1C):c.5137G>A (p.Asp1713Asn) rs747708938 0.00001
NM_000719.7(CACNA1C):c.5162C>G (p.Thr1721Ser) rs554737427 0.00001
NM_000719.7(CACNA1C):c.5164T>G (p.Phe1722Val) rs751493277 0.00001
NM_000719.7(CACNA1C):c.5202C>T (p.Gly1734=) rs769124319 0.00001
NM_000719.7(CACNA1C):c.5330G>A (p.Arg1777His) rs189719120 0.00001
NM_000719.7(CACNA1C):c.5338C>T (p.Arg1780Cys) rs371760034 0.00001
NM_000719.7(CACNA1C):c.53C>T (p.Ser18Phe) rs1216229121 0.00001
NM_000719.7(CACNA1C):c.5549A>C (p.Glu1850Ala) rs375846068 0.00001
NM_000719.7(CACNA1C):c.5568A>G (p.Thr1856=) rs113417515 0.00001
NM_000719.7(CACNA1C):c.5600G>A (p.Arg1867Gln) rs535350857 0.00001
NM_000719.7(CACNA1C):c.5637C>A (p.Ile1879=) rs569227029 0.00001
NM_000719.7(CACNA1C):c.5772G>C (p.Leu1924=) rs757373786 0.00001
NM_000719.7(CACNA1C):c.5904C>T (p.Pro1968=) rs779915019 0.00001
NM_000719.7(CACNA1C):c.6019G>A (p.Ala2007Thr) rs750411964 0.00001
NM_000719.7(CACNA1C):c.6039C>T (p.Pro2013=) rs780157730 0.00001
NM_000719.7(CACNA1C):c.6050T>C (p.Met2017Thr) rs786205742 0.00001
NM_000719.7(CACNA1C):c.6063G>A (p.Gln2021=) rs751077510 0.00001
NM_000719.7(CACNA1C):c.6090C>T (p.His2030=) rs750835120 0.00001
NM_000719.7(CACNA1C):c.609G>A (p.Val203=) rs1417477759 0.00001
NM_000719.7(CACNA1C):c.6197C>T (p.Ala2066Val) rs1216146146 0.00001
NM_000719.7(CACNA1C):c.6243C>T (p.Ile2081=) rs763666740 0.00001
NM_000719.7(CACNA1C):c.6253G>A (p.Gly2085Ser) rs2097780609 0.00001
NM_000719.7(CACNA1C):c.6279C>T (p.Ala2093=) rs768208850 0.00001
NM_000719.7(CACNA1C):c.6338A>C (p.Asp2113Ala) rs972053240 0.00001
NM_000719.7(CACNA1C):c.792C>A (p.Ala264=) rs750459136 0.00001
NM_000719.7(CACNA1C):c.82G>A (p.Ala28Thr) rs373687005 0.00001
NM_000719.7(CACNA1C):c.917-20T>C rs1228502476 0.00001
NM_000719.7(CACNA1C):c.91A>G (p.Asn31Asp) rs531598856 0.00001
NM_000719.7(CACNA1C):c.960G>A (p.Thr320=) rs553958501 0.00001
NM_000719.7(CACNA1C):c.98A>G (p.Asn33Ser) rs535608443 0.00001
NM_001167623.2(CACNA1C):c.3871G>A (p.Val1291Ile) rs786205760 0.00001
NM_001167623.2(CACNA1C):c.3912+1G>A rs786205761 0.00001
GRCh37/hg19 12p13.33(chr12:2162777-2800066)x1
GRCh37/hg19 12p13.33(chr12:2218209-2554428)x3
GRCh37/hg19 12p13.33(chr12:2235940-2382140)x1
GRCh37/hg19 12p13.33(chr12:2315926-2674054)x3
GRCh37/hg19 12p13.33(chr12:2387098-2740808)x3
GRCh37/hg19 12p13.33(chr12:2791716-2791844)x3
GRCh37/hg19 12p13.33(chr12:2794031-2844076)x3
GRCh37/hg19 12p13.33(chr12:2794331-2851075)x1
NM_000719.7(CACNA1C):c.*33dup rs2153892870
NM_000719.7(CACNA1C):c.-2C>T
NM_000719.7(CACNA1C):c.-77del rs138130246
NM_000719.7(CACNA1C):c.1031C>T (p.Thr344Ile) rs200935321
NM_000719.7(CACNA1C):c.1052T>A (p.Phe351Tyr) rs1555672376
NM_000719.7(CACNA1C):c.1064C>T (p.Thr355Met) rs538694667
NM_000719.7(CACNA1C):c.1086G>A (p.Met362Ile)
NM_000719.7(CACNA1C):c.1091G>A (p.Gly364Asp)
NM_000719.7(CACNA1C):c.1102G>A (p.Val368Met)
NM_000719.7(CACNA1C):c.1114-410C>A rs1843666783
NM_000719.7(CACNA1C):c.1114-422T>C rs780604576
NM_000719.7(CACNA1C):c.1114-423T>C rs2099767230
NM_000719.7(CACNA1C):c.1118A>G (p.Asn373Ser)
NM_000719.7(CACNA1C):c.1138T>G (p.Trp380Gly) rs2154577561
NM_000719.7(CACNA1C):c.1141C>T (p.Pro381Ser) rs786205775
NM_000719.7(CACNA1C):c.1204G>A (p.Gly402Ser) rs80315385
NM_000719.7(CACNA1C):c.1204G>C (p.Gly402Arg) rs80315385
NM_000719.7(CACNA1C):c.1216G>A (p.Gly406Arg) rs79891110
NM_000719.7(CACNA1C):c.1218-6C>T rs727503833
NM_000719.7(CACNA1C):c.1253G>C (p.Arg418Pro) rs398123516
NM_000719.7(CACNA1C):c.1255G>A (p.Gly419Arg) rs786205776
NM_000719.7(CACNA1C):c.1255G>C (p.Gly419Arg) rs786205776
NM_000719.7(CACNA1C):c.125A>G (p.His42Arg) rs2154136915
NM_000719.7(CACNA1C):c.1274G>A (p.Arg425Gln) rs1430516663
NM_000719.7(CACNA1C):c.1366A>C (p.Met456Leu) rs746887726
NM_000719.7(CACNA1C):c.1372G>A (p.Glu458Lys)
NM_000719.7(CACNA1C):c.1381C>G (p.Pro461Ala) rs776242172
NM_000719.7(CACNA1C):c.1385G>A (p.Arg462Gln) rs794727961
NM_000719.7(CACNA1C):c.1390+236G>A rs2239099
NM_000719.7(CACNA1C):c.1391-2480G>A
NM_000719.7(CACNA1C):c.1407T>G (p.Ser469Arg)
NM_000719.7(CACNA1C):c.1420G>T (p.Val474Phe) rs765581751
NM_000719.7(CACNA1C):c.1473C>T (p.Ala491=)
NM_000719.7(CACNA1C):c.1476G>T (p.Arg492Ser)
NM_000719.7(CACNA1C):c.1480G>C (p.Ala494Pro)
NM_000719.7(CACNA1C):c.1481+621C>T rs200329394
NM_000719.7(CACNA1C):c.14A>G (p.Asn5Ser) rs1555075958
NM_000719.7(CACNA1C):c.1532G>A (p.Arg511Gln) rs786205747
NM_000719.7(CACNA1C):c.1537T>C (p.Cys513Arg)
NM_000719.7(CACNA1C):c.1552C>T (p.Arg518Cys) rs786205748
NM_000719.7(CACNA1C):c.1557C>A (p.Ala519=) rs186720824
NM_000719.7(CACNA1C):c.1557C>T (p.Ala519=) rs186720824
NM_000719.7(CACNA1C):c.1585C>G (p.Leu529Val)
NM_000719.7(CACNA1C):c.15_16del (p.Thr6fs) rs786205782
NM_000719.7(CACNA1C):c.1614G>T (p.Thr538=)
NM_000719.7(CACNA1C):c.161C>T (p.Ala54Val) rs775019372
NM_000719.7(CACNA1C):c.1630G>A (p.Glu544Lys)
NM_000719.7(CACNA1C):c.1640A>G (p.Asn547Ser)
NM_000719.7(CACNA1C):c.1664T>C (p.Val555Ala)
NM_000719.7(CACNA1C):c.1672A>G (p.Thr558Ala) rs2154593415
NM_000719.7(CACNA1C):c.1693G>T (p.Ala565Ser)
NM_000719.7(CACNA1C):c.1697T>C (p.Leu566Pro)
NM_000719.7(CACNA1C):c.172G>A (p.Ala58Thr)
NM_000719.7(CACNA1C):c.1753G>T (p.Val585Leu) rs763738559
NM_000719.7(CACNA1C):c.175G>T (p.Ala59Ser) rs786205766
NM_000719.7(CACNA1C):c.1841T>G (p.Leu614Arg) rs1057518994
NM_000719.7(CACNA1C):c.18G>T (p.Thr6=)
NM_000719.7(CACNA1C):c.1917C>G (p.Asn639Lys) rs1057524804
NM_000719.7(CACNA1C):c.1928C>T (p.Ser643Phe)
NM_000719.7(CACNA1C):c.1931T>G (p.Leu644Trp) rs786205749
NM_000719.7(CACNA1C):c.1954G>A (p.Ala652Thr)
NM_000719.7(CACNA1C):c.1991TCT[1] (p.Phe665del)
NM_000719.7(CACNA1C):c.1A>G (p.Met1Val) rs931964122
NM_000719.7(CACNA1C):c.2024G>A (p.Gly675Glu) rs2153223856
NM_000719.7(CACNA1C):c.2024G>C (p.Gly675Ala)
NM_000719.7(CACNA1C):c.2074T>A (p.Phe692Ile) rs2060548431
NM_000719.7(CACNA1C):c.2103+12T>C rs2153223930
NM_000719.7(CACNA1C):c.2104-240G>A rs74053837
NM_000719.7(CACNA1C):c.2107C>T (p.Leu703=) rs2153225440
NM_000719.7(CACNA1C):c.2113G>A (p.Gly705Arg) rs786205750
NM_000719.7(CACNA1C):c.2114G>A (p.Gly705Glu)
NM_000719.7(CACNA1C):c.211G>A (p.Ala71Thr) rs1064796234
NM_000719.7(CACNA1C):c.2122T>G (p.Trp708Gly)
NM_000719.7(CACNA1C):c.2124G>A (p.Trp708Ter) rs1555828602
NM_000719.7(CACNA1C):c.2180T>G (p.Met727Arg)
NM_000719.7(CACNA1C):c.2224+78T>G rs3751254
NM_000719.7(CACNA1C):c.2225-5_2225-2del
NM_000719.7(CACNA1C):c.2225-8A>C
NM_000719.7(CACNA1C):c.2234T>C (p.Leu745Pro) rs398123518
NM_000719.7(CACNA1C):c.2251A>G (p.Ile751Val) rs794727167
NM_000719.7(CACNA1C):c.2269G>C (p.Ala757Pro) rs560163331
NM_000719.7(CACNA1C):c.2284C>T (p.Leu762Phe) rs2061710859
NM_000719.7(CACNA1C):c.2296C>A (p.Gln766Lys)
NM_000719.7(CACNA1C):c.2302G>A (p.Glu768Lys) rs2153229485
NM_000719.7(CACNA1C):c.2311GAG[1] (p.Glu772del) rs786205770
NM_000719.7(CACNA1C):c.237G>A (p.Thr79=) rs374468402
NM_000719.7(CACNA1C):c.2397C>T (p.Ser799=) rs1440491763
NM_000719.7(CACNA1C):c.239_244delinsTTGCAGCTCC (p.Gln80fs) rs2154137096
NM_000719.7(CACNA1C):c.2404G>A (p.Glu802Lys) rs1555835003
NM_000719.7(CACNA1C):c.242G>A (p.Arg81Gln) rs786205767
NM_000719.7(CACNA1C):c.2439A>G (p.Gly813=)
NM_000719.7(CACNA1C):c.2446C>T (p.Pro816Ser) rs1380611135
NM_000719.7(CACNA1C):c.2448A>C (p.Pro816=) rs776419844
NM_000719.7(CACNA1C):c.2467A>G (p.Met823Val) rs786205752
NM_000719.7(CACNA1C):c.2470G>A (p.Asp824Asn)
NM_000719.7(CACNA1C):c.2504G>A (p.Ser835Asn)
NM_000719.7(CACNA1C):c.2530+1G>A
NM_000719.7(CACNA1C):c.2536G>A (p.Glu846Lys) rs1295351612
NM_000719.7(CACNA1C):c.2542G>A (p.Glu848Lys)
NM_000719.7(CACNA1C):c.2542GAG[2] (p.Glu850del) rs575583988
NM_000719.7(CACNA1C):c.2573G>A (p.Arg858His) rs786205753
NM_000719.7(CACNA1C):c.2575C>T (p.Pro859Ser) rs2153339297
NM_000719.7(CACNA1C):c.2578C>G (p.Arg860Gly) rs758786846
NM_000719.7(CACNA1C):c.2579G>C (p.Arg860Pro) rs730880056
NM_000719.7(CACNA1C):c.2581C>T (p.Pro861Ser) rs786205754
NM_000719.7(CACNA1C):c.2584C>T (p.Leu862Phe) rs2153339402
NM_000719.7(CACNA1C):c.2600T>C (p.Leu867Pro)
NM_000719.7(CACNA1C):c.2636C>T (p.Ala879Val) rs1199713333
NM_000719.7(CACNA1C):c.2644A>G (p.Ile882Val)
NM_000719.7(CACNA1C):c.2650A>C (p.Ser884Arg) rs777391300
NM_000719.7(CACNA1C):c.2663+1G>A rs2153339994
NM_000719.7(CACNA1C):c.2669G>A (p.Arg890His)
NM_000719.7(CACNA1C):c.2684G>A (p.Arg895His) rs786205755
NM_000719.7(CACNA1C):c.2734C>A (p.Leu912Ile) rs786205264
NM_000719.7(CACNA1C):c.2750T>A (p.Leu917Gln)
NM_000719.7(CACNA1C):c.2794-190G>T rs144915499
NM_000719.7(CACNA1C):c.2794-3C>T
NM_000719.7(CACNA1C):c.2825C>G (p.Thr942Ser)
NM_000719.7(CACNA1C):c.2827A>G (p.Ile943Val) rs786205757
NM_000719.7(CACNA1C):c.2853+155G>A
NM_000719.7(CACNA1C):c.2853+167A>G
NM_000719.7(CACNA1C):c.2853+197T>A
NM_000719.7(CACNA1C):c.2853+212T>G rs188733100
NM_000719.7(CACNA1C):c.2853+216A>T rs2153374222
NM_000719.7(CACNA1C):c.2853+4A>C
NM_000719.7(CACNA1C):c.2854-11C>G rs2153406175
NM_000719.7(CACNA1C):c.2935G>A (p.Val979Met) rs1555874590
NM_000719.7(CACNA1C):c.2977G>C (p.Val993Leu) rs1555878893
NM_000719.7(CACNA1C):c.2992C>T (p.Arg998Ter)
NM_000719.7(CACNA1C):c.3001C>T (p.Arg1001Ter) rs1555879031
NM_000719.7(CACNA1C):c.3020G>C (p.Arg1007Thr)
NM_000719.7(CACNA1C):c.3020G>T (p.Arg1007Met)
NM_000719.7(CACNA1C):c.304C>T (p.Arg102Ter)
NM_000719.7(CACNA1C):c.3050A>G (p.His1017Arg) rs2153426949
NM_000719.7(CACNA1C):c.3061T>C (p.Cys1021Arg) rs1057518301
NM_000719.7(CACNA1C):c.3073G>A (p.Ala1025Thr)
NM_000719.7(CACNA1C):c.309C>T (p.Ala103=) rs757538469
NM_000719.7(CACNA1C):c.3106A>G (p.Thr1036Ala) rs2153427070
NM_000719.7(CACNA1C):c.3139G>A (p.Gly1047Arg) rs2075024622
NM_000719.7(CACNA1C):c.3209+4A>C
NM_000719.7(CACNA1C):c.3210-52C>T rs115779848
NM_000719.7(CACNA1C):c.3251C>T (p.Pro1084Leu)
NM_000719.7(CACNA1C):c.3261A>T (p.Gln1087His)
NM_000719.7(CACNA1C):c.3265C>T (p.Arg1089Cys) rs2075701336
NM_000719.7(CACNA1C):c.3357-20G>A rs769877763
NM_000719.7(CACNA1C):c.3357G>C (p.Glu1119Asp) rs1555884341
NM_000719.7(CACNA1C):c.3373A>G (p.Ile1125Val) rs727503834
NM_000719.7(CACNA1C):c.3376G>A (p.Asp1126Asn)
NM_000719.7(CACNA1C):c.3404T>A (p.Ile1135Asn)
NM_000719.7(CACNA1C):c.3405C>G (p.Ile1135Met) rs1324768943
NM_000719.7(CACNA1C):c.341G>A (p.Arg114Gln)
NM_000719.7(CACNA1C):c.3461C>T (p.Ala1154Val) rs786205758
NM_000719.7(CACNA1C):c.3462C>A (p.Ala1154=)
NM_000719.7(CACNA1C):c.3483C>G (p.Phe1161Leu)
NM_000719.7(CACNA1C):c.3484G>A (p.Val1162Met)
NM_000719.7(CACNA1C):c.3484G>C (p.Val1162Leu) rs2076324884
NM_000719.7(CACNA1C):c.3493G>A (p.Val1165Ile)
NM_000719.7(CACNA1C):c.3499G>A (p.Val1167Ile) rs2076328331
NM_000719.7(CACNA1C):c.3500T>C (p.Val1167Ala) rs2153440081
NM_000719.7(CACNA1C):c.3503C>A (p.Thr1168Asn) rs2153440093
NM_000719.7(CACNA1C):c.3559-17C>T rs897046930
NM_000719.7(CACNA1C):c.3577G>A (p.Ala1193Thr) rs1251955384
NM_000719.7(CACNA1C):c.3589C>T (p.Arg1197Trp)
NM_000719.7(CACNA1C):c.3606C>G (p.Tyr1202Ter) rs895560697
NM_000719.7(CACNA1C):c.3612del (p.Lys1205fs)
NM_000719.7(CACNA1C):c.3628T>C (p.Tyr1210His) rs2153449886
NM_000719.7(CACNA1C):c.362T>C (p.Val121Ala) rs2154137228
NM_000719.7(CACNA1C):c.3631A>G (p.Lys1211Glu) rs786205759
NM_000719.7(CACNA1C):c.3671del (p.Leu1224fs) rs886043670
NM_000719.7(CACNA1C):c.3678C>G (p.Phe1226Leu) rs775309900
NM_000719.7(CACNA1C):c.3701T>A (p.Ile1234Asn) rs786205780
NM_000719.7(CACNA1C):c.3712A>G (p.Met1238Val) rs2077233710
NM_000719.7(CACNA1C):c.3713T>G (p.Met1238Arg)
NM_000719.7(CACNA1C):c.3717+1_3717+2insA rs1555887068
NM_000719.7(CACNA1C):c.372-3C>T rs2154146507
NM_000719.7(CACNA1C):c.3724G>A (p.Gly1242Ser) rs1131691881
NM_000719.7(CACNA1C):c.3748G>T (p.Ala1250Ser) rs373930708
NM_000719.7(CACNA1C):c.3751A>G (p.Met1251Val)
NM_000719.7(CACNA1C):c.3803T>C (p.Leu1268Pro)
NM_000719.7(CACNA1C):c.3828+177G>A rs114441162
NM_000719.7(CACNA1C):c.3828G>A (p.Lys1276=)
NM_000719.7(CACNA1C):c.3829-683C>T rs2153568051
NM_000719.7(CACNA1C):c.3829-717_3829-714del rs111345392
NM_000719.7(CACNA1C):c.3829-85C>A rs1206288485
NM_000719.7(CACNA1C):c.3829-86del rs10713529
NM_000719.7(CACNA1C):c.3829-86dup rs10713529
NM_000719.7(CACNA1C):c.3829-87_3829-86del rs10713529
NM_000719.7(CACNA1C):c.3830A>G (p.His1277Arg)
NM_000719.7(CACNA1C):c.3862G>A (p.Ala1288Thr) rs367895193
NM_000719.7(CACNA1C):c.3877G>C (p.Gly1293Arg)
NM_000719.7(CACNA1C):c.3894A>G (p.Ile1298Met) rs2153572525
NM_000719.7(CACNA1C):c.3903C>T (p.Thr1301=) rs1489840314
NM_000719.7(CACNA1C):c.390T>C (p.Ile130=) rs1596374060
NM_000719.7(CACNA1C):c.3912+116del rs59658684
NM_000719.7(CACNA1C):c.3912+116dup rs59658684
NM_000719.7(CACNA1C):c.3912+189del rs57723819
NM_000719.7(CACNA1C):c.3912+189dup rs57723819
NM_000719.7(CACNA1C):c.3912+1G>A rs1247088024
NM_000719.7(CACNA1C):c.3929A>C (p.Gln1310Pro)
NM_000719.7(CACNA1C):c.3930A>T (p.Gln1310His) rs369262825
NM_000719.7(CACNA1C):c.3931T>C (p.Cys1311Arg)
NM_000719.7(CACNA1C):c.3932G>A (p.Cys1311Tyr)
NM_000719.7(CACNA1C):c.3945+14T>C rs2153638161
NM_000719.7(CACNA1C):c.3946-21_3946-19del
NM_000719.7(CACNA1C):c.3946-44C>T rs760982440
NM_000719.7(CACNA1C):c.3946-46C>G rs112919597
NM_000719.7(CACNA1C):c.3946-66G>A rs786205740
NM_000719.7(CACNA1C):c.3946-9G>A
NM_000719.7(CACNA1C):c.3962C>T (p.Ser1321Phe) rs779278894
NM_000719.7(CACNA1C):c.3977C>T (p.Thr1326Ile)
NM_000719.7(CACNA1C):c.3985C>T (p.Arg1329Cys) rs2153655212
NM_000719.7(CACNA1C):c.3995G>A (p.Arg1332Gln) rs2153655235
NM_000719.7(CACNA1C):c.3G>C (p.Met1Ile)
NM_000719.7(CACNA1C):c.4004G>C (p.Arg1335Pro)
NM_000719.7(CACNA1C):c.400_401del (p.Ile134fs)
NM_000719.7(CACNA1C):c.4022G>T (p.Ser1341Ile)
NM_000719.7(CACNA1C):c.4025G>A (p.Arg1342His) rs1365999989
NM_000719.7(CACNA1C):c.4055C>T (p.Thr1352Ile)
NM_000719.7(CACNA1C):c.4074+33del rs34428885
NM_000719.7(CACNA1C):c.4085A>G (p.Tyr1362Cys)
NM_000719.7(CACNA1C):c.4087G>A (p.Val1363Met) rs1555968941
NM_000719.7(CACNA1C):c.4100T>C (p.Ile1367Thr)
NM_000719.7(CACNA1C):c.4101C>G (p.Ile1367Met) rs201174821
NM_000719.7(CACNA1C):c.4102G>T (p.Val1368Leu) rs1234874360
NM_000719.7(CACNA1C):c.4105A>G (p.Met1369Val)
NM_000719.7(CACNA1C):c.4140+77G>T rs114714957
NM_000719.7(CACNA1C):c.4185G>A (p.Arg1395=) rs2153668917
NM_000719.7(CACNA1C):c.4216G>A (p.Val1406Met) rs753204879
NM_000719.7(CACNA1C):c.4238C>T (p.Ala1413Val)
NM_000719.7(CACNA1C):c.4243G>A (p.Gly1415Arg)
NM_000719.7(CACNA1C):c.4279C>G (p.Pro1427Ala) rs2153706726
NM_000719.7(CACNA1C):c.4306G>A (p.Glu1436Lys)
NM_000719.7(CACNA1C):c.4337C>A (p.Pro1446His)
NM_000719.7(CACNA1C):c.4369A>T (p.Ile1457Phe) rs781315664
NM_000719.7(CACNA1C):c.4379A>G (p.Tyr1460Cys)
NM_000719.7(CACNA1C):c.4400TCA[1] (p.Ile1468del)
NM_000719.7(CACNA1C):c.4418C>G (p.Ala1473Gly) rs794727587
NM_000719.7(CACNA1C):c.4433A>G (p.Asn1478Ser)
NM_000719.7(CACNA1C):c.4516C>T (p.Pro1506Ser)
NM_000719.7(CACNA1C):c.4527-2A>G rs2153713163
NM_000719.7(CACNA1C):c.4556C>T (p.Thr1519Ile)
NM_000719.7(CACNA1C):c.4565G>A (p.Arg1522Gln) rs1420232852
NM_000719.7(CACNA1C):c.4567C>T (p.Arg1523Trp)
NM_000719.7(CACNA1C):c.4609C>T (p.Arg1537Cys)
NM_000719.7(CACNA1C):c.4610G>A (p.Arg1537His)
NM_000719.7(CACNA1C):c.4624-38C>G rs58893912
NM_000719.7(CACNA1C):c.4649T>C (p.Leu1550Pro)
NM_000719.7(CACNA1C):c.4654A>G (p.Ser1552Gly)
NM_000719.7(CACNA1C):c.4657G>A (p.Asp1553Asn) rs2153729186
NM_000719.7(CACNA1C):c.4669A>G (p.Met1557Val)
NM_000719.7(CACNA1C):c.4685T>G (p.Leu1562Arg)
NM_000719.7(CACNA1C):c.4726+10C>T rs1364395580
NM_000719.7(CACNA1C):c.4726+13G>A rs561365937
NM_000719.7(CACNA1C):c.4726+313dup rs11424036
NM_000719.7(CACNA1C):c.4726+73dup rs3834937
NM_000719.7(CACNA1C):c.4727-6C>T rs886042224
NM_000719.7(CACNA1C):c.4760C>A (p.Ala1587Glu)
NM_000719.7(CACNA1C):c.4760C>T (p.Ala1587Val) rs751224055
NM_000719.7(CACNA1C):c.4761G>A (p.Ala1587=) rs756364065
NM_000719.7(CACNA1C):c.477+227TG[18] rs112680750
NM_000719.7(CACNA1C):c.477+227TG[19] rs112680750
NM_000719.7(CACNA1C):c.477+227TG[21] rs112680750
NM_000719.7(CACNA1C):c.477+227TG[22] rs112680750
NM_000719.7(CACNA1C):c.477+227TG[23] rs112680750
NM_000719.7(CACNA1C):c.477+227TG[24] rs112680750
NM_000719.7(CACNA1C):c.477+264_477+269dup rs1555200310
NM_000719.7(CACNA1C):c.4773G>T (p.Lys1591Asn) rs786205763
NM_000719.7(CACNA1C):c.478-202del rs34361820
NM_000719.7(CACNA1C):c.478-202dup rs34361820
NM_000719.7(CACNA1C):c.478-2A>G
NM_000719.7(CACNA1C):c.4794G>A (p.Met1598Ile)
NM_000719.7(CACNA1C):c.481C>T (p.Arg161Ter) rs1555599537
NM_000719.7(CACNA1C):c.4828+1G>A rs2153757423
NM_000719.7(CACNA1C):c.4828+6T>G
NM_000719.7(CACNA1C):c.4829-24CT[3] rs746112363
NM_000719.7(CACNA1C):c.4829-67dup rs372244578
NM_000719.7(CACNA1C):c.4858G>A (p.Ala1620Thr) rs2096864308
NM_000719.7(CACNA1C):c.4862C>T (p.Thr1621Met) rs2153787309
NM_000719.7(CACNA1C):c.4873C>T (p.Gln1625Ter)
NM_000719.7(CACNA1C):c.49+1G>A rs2154502706
NM_000719.7(CACNA1C):c.49+255G>A rs11062092
NM_000719.7(CACNA1C):c.4900C>T (p.Arg1634Cys)
NM_000719.7(CACNA1C):c.4910_4912del (p.Gln1637_Gly1638delinsArg) rs786205772
NM_000719.7(CACNA1C):c.4956+147_4956+149dup rs140729419
NM_000719.7(CACNA1C):c.4957-1G>A
NM_000719.7(CACNA1C):c.4957-222G>C rs2302730
NM_000719.7(CACNA1C):c.495C>A (p.Leu165=) rs2154562858
NM_000719.7(CACNA1C):c.4979A>G (p.Asp1660Gly)
NM_000719.7(CACNA1C):c.4984G>A (p.Gly1662Arg) rs778011390
NM_000719.7(CACNA1C):c.5026GAG[2] (p.Glu1678del) rs786205773
NM_000719.7(CACNA1C):c.502A>G (p.Ile168Val)
NM_000719.7(CACNA1C):c.5033A>G (p.Glu1678Gly) rs786205781
NM_000719.7(CACNA1C):c.5091+14T>C rs2153791607
NM_000719.7(CACNA1C):c.5091+1G>A rs2153791497
NM_000719.7(CACNA1C):c.5095G>A (p.Ala1699Thr)
NM_000719.7(CACNA1C):c.5098G>C (p.Gly1700Arg) rs761966966
NM_000719.7(CACNA1C):c.5116C>G (p.His1706Asp) rs949737894
NM_000719.7(CACNA1C):c.5117A>G (p.His1706Arg)
NM_000719.7(CACNA1C):c.5118C>G (p.His1706Gln)
NM_000719.7(CACNA1C):c.5122A>G (p.Ser1708Gly)
NM_000719.7(CACNA1C):c.5128T>A (p.Tyr1710Asn)
NM_000719.7(CACNA1C):c.5147_5186dup (p.His1729fs) rs1556099231
NM_000719.7(CACNA1C):c.5177G>A (p.Arg1726His) rs377564636
NM_000719.7(CACNA1C):c.5180C>T (p.Pro1727Leu) rs2153803252
NM_000719.7(CACNA1C):c.5191A>G (p.Asn1731Asp)
NM_000719.7(CACNA1C):c.5201del (p.Gly1734fs) rs1556105540
NM_000719.7(CACNA1C):c.5214C>A (p.Gly1738=) rs199538058
NM_000719.7(CACNA1C):c.5214C>T (p.Gly1738=) rs199538058
NM_000719.7(CACNA1C):c.5223G>A (p.Glu1741=) rs1372760091
NM_000719.7(CACNA1C):c.5231C>G (p.Ser1744Cys)
NM_000719.7(CACNA1C):c.523T>G (p.Phe175Val)
NM_000719.7(CACNA1C):c.5242C>G (p.Leu1748Val)
NM_000719.7(CACNA1C):c.5294C>T (p.Ala1765Val)
NM_000719.7(CACNA1C):c.5299A>G (p.Ile1767Val) rs2153803721
NM_000719.7(CACNA1C):c.5300_5314dup (p.Asn1771_Asn1772insIleAsnAsnAlaAsn)
NM_000719.7(CACNA1C):c.5346C>T (p.Ala1782=) rs369254461
NM_000719.7(CACNA1C):c.5350_5386del (p.Tyr1784fs) rs2153803935
NM_000719.7(CACNA1C):c.536T>C (p.Ile179Thr) rs1309430190
NM_000719.7(CACNA1C):c.5390C>A (p.Pro1797His)
NM_000719.7(CACNA1C):c.5408G>C (p.Arg1803Pro) rs201918158
NM_000719.7(CACNA1C):c.5435G>A (p.Ser1812Asn) rs1556123007
NM_000719.7(CACNA1C):c.5444+593G>T
NM_000719.7(CACNA1C):c.5444+613C>G
NM_000719.7(CACNA1C):c.5444+623G>A rs750528395
NM_000719.7(CACNA1C):c.5444+669G>A
NM_000719.7(CACNA1C):c.5444+675G>A
NM_000719.7(CACNA1C):c.5444+680A>G rs2153807931
NM_000719.7(CACNA1C):c.5444+704G>A
NM_000719.7(CACNA1C):c.5444+709_5444+715del
NM_000719.7(CACNA1C):c.5444+724T>C
NM_000719.7(CACNA1C):c.5444+774T>C rs535388483
NM_000719.7(CACNA1C):c.5445-256dup rs34318156
NM_000719.7(CACNA1C):c.5445-578_5445-577insGACCCTGTCCCAGCAGGGAAAGGCACGTTCTGGTGTGTG
NM_000719.7(CACNA1C):c.5445-585G>A rs113722042
NM_000719.7(CACNA1C):c.5445-586_5445-584delinsTGG rs71441836
NM_000719.7(CACNA1C):c.5445-842GA[4] rs148748662
NM_000719.7(CACNA1C):c.5476_5490dup (p.Glu1830_Thr1831insAlaGlyGlnGluGlu)
NM_000719.7(CACNA1C):c.549C>T (p.Leu183=) rs1596540958
NM_000719.7(CACNA1C):c.5573+202CA[6] rs71951718
NM_000719.7(CACNA1C):c.5573+5G>C rs786205768
NM_000719.7(CACNA1C):c.5583C>A (p.Tyr1861Ter)
NM_000719.7(CACNA1C):c.5592C>T (p.Asp1864=) rs748240245
NM_000719.7(CACNA1C):c.5619GGA[1] (p.Glu1874del) rs757172314
NM_000719.7(CACNA1C):c.5657G>T (p.Gly1886Val)
NM_000719.7(CACNA1C):c.5680+115dup rs577376387
NM_000719.7(CACNA1C):c.5680+11C>T rs66611965
NM_000719.7(CACNA1C):c.5681G>A (p.Gly1894Asp) rs370682334
NM_000719.7(CACNA1C):c.5706A>G (p.Glu1902=) rs537002656
NM_000719.7(CACNA1C):c.5728C>T (p.Arg1910Ter) rs1556291640
NM_000719.7(CACNA1C):c.585G>C (p.Trp195Cys)
NM_000719.7(CACNA1C):c.5897dup (p.Gln1967fs)
NM_000719.7(CACNA1C):c.5938A>G (p.Ser1980Gly)
NM_000719.7(CACNA1C):c.5956A>G (p.Ser1986Gly) rs2153866077
NM_000719.7(CACNA1C):c.6068G>T (p.Gly2023Val)
NM_000719.7(CACNA1C):c.6117+11C>T
NM_000719.7(CACNA1C):c.6117+5G>A
NM_000719.7(CACNA1C):c.6117G>A (p.Ala2039=)
NM_000719.7(CACNA1C):c.6118-14C>T rs2153890795
NM_000719.7(CACNA1C):c.6122dup (p.Leu2041fs) rs2153890970
NM_000719.7(CACNA1C):c.615G>A (p.Val205=) rs747320984
NM_000719.7(CACNA1C):c.6160A>G (p.Lys2054Glu)
NM_000719.7(CACNA1C):c.617+194G>A rs4765933
NM_000719.7(CACNA1C):c.617+1G>A rs2154562886
NM_000719.7(CACNA1C):c.618-69A>C rs56229649
NM_000719.7(CACNA1C):c.6200G>A (p.Cys2067Tyr)
NM_000719.7(CACNA1C):c.620T>G (p.Leu207Arg) rs2154564925
NM_000719.7(CACNA1C):c.6269C>T (p.Pro2090Leu)
NM_000719.7(CACNA1C):c.6271A>G (p.Asn2091Asp) rs1603473411
NM_000719.7(CACNA1C):c.6280del (p.Leu2094fs)
NM_000719.7(CACNA1C):c.6302G>A (p.Arg2101Lys) rs2153891904
NM_000719.7(CACNA1C):c.6322G>A (p.Ala2108Thr)
NM_000719.7(CACNA1C):c.6325G>A (p.Gly2109Arg)
NM_000719.7(CACNA1C):c.6329dup (p.Glu2111fs) rs771708175
NM_000719.7(CACNA1C):c.6340G>A (p.Ala2114Thr)
NM_000719.7(CACNA1C):c.6352C>T (p.Arg2118Cys)
NM_000719.7(CACNA1C):c.6359G>T (p.Arg2120Leu)
NM_000719.7(CACNA1C):c.688G>A (p.Gly230Arg)
NM_000719.7(CACNA1C):c.713C>G (p.Ala238Gly)
NM_000719.7(CACNA1C):c.728G>A (p.Arg243His)
NM_000719.7(CACNA1C):c.737G>A (p.Arg246Gln)
NM_000719.7(CACNA1C):c.758-259A>C rs887001
NM_000719.7(CACNA1C):c.758-5C>T
NM_000719.7(CACNA1C):c.766G>A (p.Val256Met)
NM_000719.7(CACNA1C):c.803T>C (p.Leu268Pro)
NM_000719.7(CACNA1C):c.823G>C (p.Val275Leu)
NM_000719.7(CACNA1C):c.835A>G (p.Ile279Val) rs1447529441
NM_000719.7(CACNA1C):c.847G>A (p.Ala283Thr)
NM_000719.7(CACNA1C):c.850A>G (p.Ile284Val)
NM_000719.7(CACNA1C):c.874G>A (p.Gly292Arg)
NM_000719.7(CACNA1C):c.88A>G (p.Met30Val) rs1367916633
NM_000719.7(CACNA1C):c.944C>T (p.Pro315Leu) rs2154571830
NM_000719.7(CACNA1C):c.950C>T (p.Ala317Val) rs533892755
NM_000719.7(CACNA1C):c.970C>T (p.Arg324Trp) rs2154571835
NM_000719.7(CACNA1C):c.985G>A (p.Gly329Ser) rs786205744
NM_000719.7(CACNA1C):c.991G>A (p.Val331Met) rs2154571838
NM_001167623.2(CACNA1C):c.1125T>C (p.Ala375=) rs776632764
NM_001167623.2(CACNA1C):c.1160G>C (p.Ser387Thr) rs2154577329
NM_001167623.2(CACNA1C):c.1165G>A (p.Val389Ile) rs202180580
NM_001167623.2(CACNA1C):c.1204G>A (p.Gly402Ser) rs587782933
NM_001167623.2(CACNA1C):c.1207G>A (p.Val403Met) rs2154577341
NM_001167623.2(CACNA1C):c.1216G>A (p.Gly406Arg) rs786205745
NM_001167623.2(CACNA1C):c.1216G>C (p.Gly406Arg) rs786205745

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