ClinVar Miner

List of variants in gene CACNA1A reported as pathogenic

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 306
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.1499C>T (p.Thr500Met) rs121908240 0.00001
NM_001127222.2(CACNA1A):c.1594G>A (p.Glu532Lys) rs1064794263 0.00001
NM_001127222.2(CACNA1A):c.1882G>A (p.Ala628Thr) rs577006493 0.00001
NM_001127222.2(CACNA1A):c.5032C>T (p.Arg1678Cys) rs121908243 0.00001
NM_001127222.2(CACNA1A):c.5422G>A (p.Val1808Ile) rs1296629000 0.00001
NM_001127222.2(CACNA1A):c.848A>G (p.Asn283Ser) rs1212952550 0.00001
GRCh37/hg19 19p13.2(chr19:13374979-13388396)x1
NC_000019.10:g.(13255260_13259564)_(13259701_?)del
NC_000019.10:g.(?_13298534)_(13300666_?)del
NC_000019.10:g.(?_13300530)_(13300676_?)del
NC_000019.10:g.(?_13359586)_(13359819_?)del
NC_000019.9:g.(?_13318860)_(13325442_?)del
NC_000019.9:g.(?_13335461)_(13342694_?)del
NC_000019.9:g.(?_13338225)_(13342694_?)del
NC_000019.9:g.(?_13339493)_(13341043_?)del
NC_000019.9:g.(?_13339493)_(13373667_?)del
NC_000019.9:g.(?_13342504)_(13342694_?)del
NC_000019.9:g.(?_13368144)_(13368385_?)del
NC_000019.9:g.(?_13370358)_(13373667_?)del
NC_000019.9:g.(?_13386644)_(13386790_?)del
NC_000019.9:g.(?_13394061)_(13397800_?)del
NC_000019.9:g.(?_13409338)_(13411490_?)del
NC_000019.9:g.(?_13414350)_(13418678_?)del
NC_000019.9:g.(?_13418576)_(13419362_?)del
NC_000019.9:g.(?_13418576)_(13423615_?)del
NC_000019.9:g.(?_13427906)_(13617038_?)del
NC_000019.9:g.(?_13445172)_(13446743_?)del
NC_000019.9:g.(?_13470400)_(13482613_?)del
NC_000019.9:g.(?_13476111)_(13476303_?)del
NC_000019.9:g.(?_13563670)_(13574132_?)del
NM_001127221.2(CACNA1A):c.2900_2925dup (p.Ala978fs) rs2144953455
NM_001127222.2(CACNA1A):c.-5_10del (p.Met1_Phe4del)
NM_001127222.2(CACNA1A):c.1083-2A>G
NM_001127222.2(CACNA1A):c.1088T>C (p.Phe363Ser)
NM_001127222.2(CACNA1A):c.110_125dup (p.Gly43fs) rs2145192572
NM_001127222.2(CACNA1A):c.1198+1G>A rs1057518513
NM_001127222.2(CACNA1A):c.1237C>T (p.Gln413Ter)
NM_001127222.2(CACNA1A):c.1247_1248dup (p.Phe417fs) rs1600353301
NM_001127222.2(CACNA1A):c.1248del (p.Phe417fs)
NM_001127222.2(CACNA1A):c.1334_1335dup (p.Ala446Ter)
NM_001127222.2(CACNA1A):c.1355del (p.Phe452fs)
NM_001127222.2(CACNA1A):c.1360C>T (p.Arg454Ter) rs886039668
NM_001127222.2(CACNA1A):c.1412dup (p.Glu472fs) rs1568528298
NM_001127222.2(CACNA1A):c.1434C>G (p.Tyr478Ter) rs767432719
NM_001127222.2(CACNA1A):c.1439del (p.Arg480fs) rs1555762908
NM_001127222.2(CACNA1A):c.1469G>A (p.Trp490Ter) rs1568528144
NM_001127222.2(CACNA1A):c.1470G>A (p.Trp490Ter)
NM_001127222.2(CACNA1A):c.1479_1480del (p.Ser494fs) rs1555762869
NM_001127222.2(CACNA1A):c.1500_1521del (p.Leu501fs) rs1555762855
NM_001127222.2(CACNA1A):c.1538G>A (p.Trp513Ter) rs2058143736
NM_001127222.2(CACNA1A):c.1560T>G (p.Tyr520Ter) rs1431177448
NM_001127222.2(CACNA1A):c.1577T>G (p.Leu526Ter) rs2145030772
NM_001127222.2(CACNA1A):c.1615G>A (p.Gly539Arg) rs2145030587
NM_001127222.2(CACNA1A):c.1617del (p.Thr542fs)
NM_001127222.2(CACNA1A):c.1628_1643dup (p.Ser549fs)
NM_001127222.2(CACNA1A):c.1634dup (p.Tyr545Ter) rs1568523843
NM_001127222.2(CACNA1A):c.1635C>A (p.Tyr545Ter) rs1427473572
NM_001127222.2(CACNA1A):c.1647del (p.Phe550fs) rs2058057299
NM_001127222.2(CACNA1A):c.1701G>A (p.Trp567Ter) rs1555759066
NM_001127222.2(CACNA1A):c.1744C>T (p.Arg582Ter) rs2057953268
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln) rs121908217
NM_001127222.2(CACNA1A):c.1781del (p.Lys594fs) rs1600293149
NM_001127222.2(CACNA1A):c.1785C>G (p.Tyr595Ter) rs2057948502
NM_001127222.2(CACNA1A):c.1805T>G (p.Leu602Arg)
NM_001127222.2(CACNA1A):c.1836dup (p.Ile613fs)
NM_001127222.2(CACNA1A):c.1843A>C (p.Ser615Arg) rs2057947681
NM_001127222.2(CACNA1A):c.1851G>C (p.Leu617Phe)
NM_001127222.2(CACNA1A):c.185A>G (p.Tyr62Cys)
NM_001127222.2(CACNA1A):c.1912C>T (p.Gln638Ter) rs1555758842
NM_001127222.2(CACNA1A):c.1914-10_2172+10del
NM_001127222.2(CACNA1A):c.1922del (p.Phe641fs) rs1568518139
NM_001127222.2(CACNA1A):c.1984C>T (p.Gln662Ter) rs1064795856
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met) rs121908212
NM_001127222.2(CACNA1A):c.1999G>A (p.Glu667Lys) rs2057842904
NM_001127222.2(CACNA1A):c.2006G>A (p.Trp669Ter) rs1555757537
NM_001127222.2(CACNA1A):c.2022C>A (p.Tyr674Ter) rs940460024
NM_001127222.2(CACNA1A):c.2026G>A (p.Gly676Arg) rs2144980758
NM_001127222.2(CACNA1A):c.202C>T (p.Arg68Ter)
NM_001127222.2(CACNA1A):c.2039_2040del (p.Gln680fs) rs1064794262
NM_001127222.2(CACNA1A):c.2039del (p.Gln680fs) rs1555757523
NM_001127222.2(CACNA1A):c.2045dup (p.Val683fs)
NM_001127222.2(CACNA1A):c.2127G>T (p.Leu709Phe) rs886041654
NM_001127222.2(CACNA1A):c.2131A>G (p.Ile711Val) rs1568514116
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
NM_001127222.2(CACNA1A):c.2134G>T (p.Ala712Ser) rs886037945
NM_001127222.2(CACNA1A):c.2137G>A (p.Val713Met) rs2144979269
NM_001127222.2(CACNA1A):c.2138T>C (p.Val713Ala) rs121908213
NM_001127222.2(CACNA1A):c.2142C>A (p.Asp714Glu) rs121908218
NM_001127222.2(CACNA1A):c.2191G>T (p.Glu731Ter) rs1555756737
NM_001127222.2(CACNA1A):c.2310_2337dup (p.Glu780delinsGlnValArgValGlyAlaAlaAspGlnTer) rs1057520154
NM_001127222.2(CACNA1A):c.2311A>T (p.Lys771Ter) rs2144958410
NM_001127222.2(CACNA1A):c.2312del (p.Lys771fs) rs2057740525
NM_001127222.2(CACNA1A):c.2317_2319delinsAC (p.Val773fs) rs1555756461
NM_001127222.2(CACNA1A):c.2350C>T (p.Gln784Ter)
NM_001127222.2(CACNA1A):c.2357del (p.Leu786fs) rs2057739636
NM_001127222.2(CACNA1A):c.2401G>T (p.Glu801Ter) rs1231997862
NM_001127222.2(CACNA1A):c.2402dup (p.Arg802fs)
NM_001127222.2(CACNA1A):c.2408G>A (p.Trp803Ter) rs1600274038
NM_001127222.2(CACNA1A):c.2481_2482delinsTT (p.Gln828Ter)
NM_001127222.2(CACNA1A):c.2482C>T (p.Gln828Ter) rs2057736834
NM_001127222.2(CACNA1A):c.2524G>T (p.Glu842Ter) rs767534576
NM_001127222.2(CACNA1A):c.2539C>T (p.Gln847Ter) rs1420078244
NM_001127222.2(CACNA1A):c.2551C>T (p.Gln851Ter) rs1600273534
NM_001127222.2(CACNA1A):c.2557_2586delinsGT (p.Arg853fs)
NM_001127222.2(CACNA1A):c.2633_2649dup (p.Ala884fs)
NM_001127222.2(CACNA1A):c.2723_2738delinsTG (p.Gly908fs)
NM_001127222.2(CACNA1A):c.2734C>T (p.Gln912Ter) rs1555756161
NM_001127222.2(CACNA1A):c.2752G>T (p.Gly918Cys) rs2144955129
NM_001127222.2(CACNA1A):c.2755G>T (p.Glu919Ter) rs1555756130
NM_001127222.2(CACNA1A):c.2764C>T (p.Arg922Ter) rs2144954990
NM_001127222.2(CACNA1A):c.2779del (p.Asp927fs)
NM_001127222.2(CACNA1A):c.2785_2786insT (p.His929fs) rs1555756091
NM_001127222.2(CACNA1A):c.2804_2814dup (p.Ser939fs) rs1600272344
NM_001127222.2(CACNA1A):c.2806C>T (p.Gln936Ter) rs1318353774
NM_001127222.2(CACNA1A):c.2813del (p.Gly938fs)
NM_001127222.2(CACNA1A):c.2813dup (p.Ser939fs) rs587776694
NM_001127222.2(CACNA1A):c.2837_2844del (p.Ser946fs)
NM_001127222.2(CACNA1A):c.2840del (p.Pro947fs) rs2144954299
NM_001127222.2(CACNA1A):c.2844_2853del (p.Ala951fs) rs1555755977
NM_001127222.2(CACNA1A):c.2865del (p.Arg956fs) rs786200962
NM_001127222.2(CACNA1A):c.286G>T (p.Glu96Ter)
NM_001127222.2(CACNA1A):c.2899G>T (p.Glu967Ter) rs1555755929
NM_001127222.2(CACNA1A):c.2903del (p.Gly968fs) rs1555755926
NM_001127222.2(CACNA1A):c.2904_2929del (p.Pro969fs) rs1555755909
NM_001127222.2(CACNA1A):c.2955_2958dup (p.Arg987fs)
NM_001127222.2(CACNA1A):c.2958_2959dup (p.Arg987fs) rs1555755878
NM_001127222.2(CACNA1A):c.2974G>T (p.Glu992Ter) rs2057722066
NM_001127222.2(CACNA1A):c.2980G>T (p.Glu994Ter) rs1600271575
NM_001127222.2(CACNA1A):c.2996del (p.Gly999fs)
NM_001127222.2(CACNA1A):c.2996dup (p.Glu1000fs) rs2057721188
NM_001127222.2(CACNA1A):c.3006_3007delinsCT (p.Arg1002_Arg1003delinsSerTer) rs2144952476
NM_001127222.2(CACNA1A):c.301G>C (p.Glu101Gln) rs886037944
NM_001127222.2(CACNA1A):c.3039C>A (p.Tyr1013Ter) rs1568507151
NM_001127222.2(CACNA1A):c.3039C>G (p.Tyr1013Ter) rs1568507151
NM_001127222.2(CACNA1A):c.3046del (p.Asp1016fs)
NM_001127222.2(CACNA1A):c.3072dup (p.Arg1025fs)
NM_001127222.2(CACNA1A):c.3089+1G>A rs2057717676
NM_001127222.2(CACNA1A):c.3091_3094del
NM_001127222.2(CACNA1A):c.3103dup (p.Ser1035fs) rs1131691712
NM_001127222.2(CACNA1A):c.3105dup (p.Gly1036fs) rs2144889523
NM_001127222.2(CACNA1A):c.3122del (p.Gly1041fs)
NM_001127222.2(CACNA1A):c.3154C>T (p.Gln1052Ter) rs1568495944
NM_001127222.2(CACNA1A):c.3169del (p.Gln1057fs)
NM_001127222.2(CACNA1A):c.3215del (p.Lys1072fs) rs1555753042
NM_001127222.2(CACNA1A):c.3277_3283del (p.Ser1093fs) rs2144888569
NM_001127222.2(CACNA1A):c.3324dup (p.Ile1109fs)
NM_001127222.2(CACNA1A):c.3411del (p.Lys1138fs) rs746790849
NM_001127222.2(CACNA1A):c.3411dup (p.Lys1138fs) rs746790849
NM_001127222.2(CACNA1A):c.3414del (p.Thr1139fs) rs2144887631
NM_001127222.2(CACNA1A):c.3457C>T (p.Gln1153Ter) rs201612257
NM_001127222.2(CACNA1A):c.3532del (p.Leu1178fs) rs757953057
NM_001127222.2(CACNA1A):c.3532dup (p.Leu1178fs) rs757953057
NM_001127222.2(CACNA1A):c.3533del (p.Leu1178fs) rs1568494824
NM_001127222.2(CACNA1A):c.3533dup (p.Asn1179fs)
NM_001127222.2(CACNA1A):c.3563del (p.Asn1188fs) rs2144880750
NM_001127222.2(CACNA1A):c.3578del (p.Pro1193fs) rs1600242882
NM_001127222.2(CACNA1A):c.3590_3593del (p.Lys1197fs) rs2057373332
NM_001127222.2(CACNA1A):c.3652_3653del (p.Pro1218fs)
NM_001127222.2(CACNA1A):c.3692+1G>A rs1315533129
NM_001127222.2(CACNA1A):c.3692+1G>T rs1315533129
NM_001127222.2(CACNA1A):c.3694dup (p.Leu1232fs) rs1568493323
NM_001127222.2(CACNA1A):c.3735dup (p.Glu1246Ter)
NM_001127222.2(CACNA1A):c.3787G>A (p.Glu1263Lys) rs1555751762
NM_001127222.2(CACNA1A):c.3794del (p.Pro1265fs) rs587776692
NM_001127222.2(CACNA1A):c.3822+1G>A rs794727355
NM_001127222.2(CACNA1A):c.3829C>T (p.Arg1277Ter) rs121909323
NM_001127222.2(CACNA1A):c.3838_3841del (p.Asp1280fs) rs2144839766
NM_001127222.2(CACNA1A):c.3843C>G (p.Tyr1281Ter) rs774224202
NM_001127222.2(CACNA1A):c.3990-2A>C
NM_001127222.2(CACNA1A):c.3990-2A>G rs1057524483
NM_001127222.2(CACNA1A):c.3990-9_3991dup
NM_001127222.2(CACNA1A):c.400-1G>A
NM_001127222.2(CACNA1A):c.4009G>T (p.Asp1337Tyr) rs1568473283
NM_001127222.2(CACNA1A):c.4031T>C (p.Leu1344Pro) rs2144773045
NM_001127222.2(CACNA1A):c.4033C>T (p.Arg1345Ter) rs1568473233
NM_001127222.2(CACNA1A):c.4034G>A (p.Arg1345Gln) rs121908230
NM_001127222.2(CACNA1A):c.4035_4043del (p.1346VLR[1])
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln) rs1057520918
NM_001127222.2(CACNA1A):c.4051C>T (p.Arg1351Ter) rs1568473171
NM_001127222.2(CACNA1A):c.4052G>A (p.Arg1351Gln) rs1555745467
NM_001127222.2(CACNA1A):c.4055C>T (p.Pro1352Leu) rs1064794808
NM_001127222.2(CACNA1A):c.4064C>A (p.Thr1355Asn) rs2056767062
NM_001127222.2(CACNA1A):c.4064C>T (p.Thr1355Ile) rs2056767062
NM_001127222.2(CACNA1A):c.4065del (p.Ile1356fs)
NM_001127222.2(CACNA1A):c.4067T>G (p.Ile1356Ser) rs886041541
NM_001127222.2(CACNA1A):c.4072C>T (p.Arg1358Trp) rs1555745461
NM_001127222.2(CACNA1A):c.4085del (p.Leu1362fs) rs2144772838
NM_001127222.2(CACNA1A):c.4089+1G>A
NM_001127222.2(CACNA1A):c.4089+2T>G rs1600198365
NM_001127222.2(CACNA1A):c.41del (p.Gly14fs) rs1555797179
NM_001127222.2(CACNA1A):c.4291C>T (p.Arg1431Ter) rs1568470104
NM_001127222.2(CACNA1A):c.4324T>G (p.Tyr1442Asp) rs2056674737
NM_001127222.2(CACNA1A):c.4363G>T (p.Val1455Leu) rs121908237
NM_001127222.2(CACNA1A):c.4366del (p.Ser1456fs) rs2144758193
NM_001127222.2(CACNA1A):c.436_437insG (p.Phe146fs)
NM_001127222.2(CACNA1A):c.4389-1G>C rs1360397142
NM_001127222.2(CACNA1A):c.4389-2A>C
NM_001127222.2(CACNA1A):c.439G>A (p.Glu147Lys) rs1568659847
NM_001127222.2(CACNA1A):c.4426C>T (p.Gln1476Ter) rs1555743942
NM_001127222.2(CACNA1A):c.4430G>A (p.Gly1477Asp) rs2056602306
NM_001127222.2(CACNA1A):c.4434del (p.Ser1479fs) rs2056602254
NM_001127222.2(CACNA1A):c.4466T>C (p.Phe1489Ser) rs121908233
NM_001127222.2(CACNA1A):c.4494CTT[2] (p.Phe1501del) rs886041279
NM_001127222.2(CACNA1A):c.4501_4503del (p.Phe1501del) rs1131691374
NM_001127222.2(CACNA1A):c.4514T>C (p.Phe1505Ser) rs2144748340
NM_001127222.2(CACNA1A):c.4519G>A (p.Ala1507Thr) rs886037946
NM_001127222.2(CACNA1A):c.4519G>T (p.Ala1507Ser) rs886037946
NM_001127222.2(CACNA1A):c.4539_4540del (p.Phe1513fs) rs2056600391
NM_001127222.2(CACNA1A):c.4599C>A (p.Cys1533Ter) rs2144735303
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter) rs121909324
NM_001127222.2(CACNA1A):c.4663C>T (p.Gln1555Ter) rs1600180457
NM_001127222.2(CACNA1A):c.4694dup (p.Pro1566fs) rs1600180395
NM_001127222.2(CACNA1A):c.471dup (p.Ala158fs) rs1599289383
NM_001127222.2(CACNA1A):c.4765del (p.Ala1589fs) rs2144726274
NM_001127222.2(CACNA1A):c.4783_4786delinsCA (p.Asn1595fs) rs2144726226
NM_001127222.2(CACNA1A):c.4795del (p.Val1599fs) rs2144726142
NM_001127222.2(CACNA1A):c.4828_4829del (p.Leu1610fs) rs2056443833
NM_001127222.2(CACNA1A):c.4842del (p.Val1616fs) rs587776695
NM_001127222.2(CACNA1A):c.4897G>A (p.Asp1633Asn) rs1555740805
NM_001127222.2(CACNA1A):c.4927G>A (p.Asp1643Asn) rs1064795531
NM_001127222.2(CACNA1A):c.492C>G (p.Tyr164Ter)
NM_001127222.2(CACNA1A):c.492del (p.Tyr164_Leu165insTer)
NM_001127222.2(CACNA1A):c.4950+1G>T rs1568457080
NM_001127222.2(CACNA1A):c.4950+3662G>T rs1600152215
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His) rs121908216
NM_001127222.2(CACNA1A):c.4987C>T (p.Arg1663Ter) rs1555738369
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln) rs121908247
NM_001127222.2(CACNA1A):c.4996C>T (p.Arg1666Trp) rs121908220
NM_001127222.2(CACNA1A):c.4997G>C (p.Arg1666Pro) rs1568447650
NM_001127222.2(CACNA1A):c.5000del (p.Leu1667fs)
NM_001127222.2(CACNA1A):c.5015G>C (p.Arg1672Pro) rs1057519429
NM_001127222.2(CACNA1A):c.5015dup (p.Gln1673fs) rs2144649756
NM_001127222.2(CACNA1A):c.5021del (p.Gly1674fs)
NM_001127222.2(CACNA1A):c.5056C>T (p.Gln1686Ter) rs1600139781
NM_001127222.2(CACNA1A):c.507G>A (p.Trp169Ter) rs2144936148
NM_001127222.2(CACNA1A):c.5080G>T (p.Val1694Phe)
NM_001127222.2(CACNA1A):c.5115T>G (p.Tyr1705Ter) rs1600139005
NM_001127222.2(CACNA1A):c.5123T>C (p.Ile1708Thr) rs121909326
NM_001127222.2(CACNA1A):c.51del (p.Ala19fs)
NM_001127222.2(CACNA1A):c.5216G>C (p.Arg1739Pro)
NM_001127222.2(CACNA1A):c.5238dup (p.Leu1747fs)
NM_001127222.2(CACNA1A):c.5260G>A (p.Gly1754Arg) rs1555737113
NM_001127222.2(CACNA1A):c.5263G>A (p.Glu1755Lys) rs121908226
NM_001127222.2(CACNA1A):c.526G>A (p.Val176Met) rs1057521920
NM_001127222.2(CACNA1A):c.526del (p.Val176fs) rs2144936041
NM_001127222.2(CACNA1A):c.5335C>T (p.Arg1779Ter) rs2144629622
NM_001127222.2(CACNA1A):c.5342del (p.Cys1781fs) rs1600130724
NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu) rs1064794261
NM_001127222.2(CACNA1A):c.5408A>C (p.Asn1803Thr)
NM_001127222.2(CACNA1A):c.5408dup (p.Asn1803fs) rs2144622488
NM_001127222.2(CACNA1A):c.5419G>A (p.Ala1807Thr) rs1555736565
NM_001127222.2(CACNA1A):c.5425A>C (p.Ile1809Leu) rs121908214
NM_001127222.2(CACNA1A):c.5452C>T (p.Arg1818Ter) rs267606696
NM_001127222.2(CACNA1A):c.5477dup (p.His1826fs) rs2144622191
NM_001127222.2(CACNA1A):c.5529-1212_5529-1211del rs1431092862
NM_001127222.2(CACNA1A):c.5529-1214del rs2144616676
NM_001127222.2(CACNA1A):c.5529-1231C>T rs1296262946
NM_001127222.2(CACNA1A):c.5529-1241_5529-1240del rs1568440440
NM_001127222.2(CACNA1A):c.5529-1268C>A rs765557914
NM_001127222.2(CACNA1A):c.5637del (p.Met1880fs) rs1600114562
NM_001127222.2(CACNA1A):c.575G>A (p.Arg192Gln) rs121908211
NM_001127222.2(CACNA1A):c.584G>A (p.Arg195Lys) rs121908222
NM_001127222.2(CACNA1A):c.5859dup (p.Lys1954fs) rs2144536044
NM_001127222.2(CACNA1A):c.5884del (p.Met1962fs)
NM_001127222.2(CACNA1A):c.592C>T (p.Arg198Ter) rs886042230
NM_001127222.2(CACNA1A):c.5962C>T (p.Gln1988Ter)
NM_001127222.2(CACNA1A):c.6028C>T (p.Gln2010Ter) rs1355062450
NM_001127222.2(CACNA1A):c.6050+4_6050+7del rs2054856814
NM_001127222.2(CACNA1A):c.605C>T (p.Pro202Leu) rs2144559262
NM_001127222.2(CACNA1A):c.6097C>T (p.Gln2033Ter) rs2144524927
NM_001127222.2(CACNA1A):c.6114del (p.Met2038fs) rs1064796199
NM_001127222.2(CACNA1A):c.6147_6163del (p.Gln2049fs) rs2144524536
NM_001127222.2(CACNA1A):c.6151_6152insT (p.Pro2051fs)
NM_001127222.2(CACNA1A):c.6155dup (p.Thr2053fs) rs1158454977
NM_001127222.2(CACNA1A):c.6181_6184del (p.Asn2061fs) rs2144524434
NM_001127222.2(CACNA1A):c.6202C>T (p.Arg2068Ter) rs779221807
NM_001127222.2(CACNA1A):c.6212_6221del (p.Gly2071fs)
NM_001127222.2(CACNA1A):c.6340-1G>C
NM_001127222.2(CACNA1A):c.6368del (p.Arg2123fs) rs1555730902
NM_001127222.2(CACNA1A):c.6371C>A (p.Ser2124Ter) rs2144506487
NM_001127222.2(CACNA1A):c.6397C>T (p.Arg2133Ter) rs1555730878
NM_001127222.2(CACNA1A):c.6397_6403del (p.Arg2133fs) rs2144506286
NM_001127222.2(CACNA1A):c.6397del (p.Arg2133fs)
NM_001127222.2(CACNA1A):c.6435dup (p.Glu2146fs)
NM_001127222.2(CACNA1A):c.6488_6489del (p.Ala2162_Ser2163insTer)
NM_001127222.2(CACNA1A):c.6489dup (p.Glu2164Ter) rs1555730801
NM_001127222.2(CACNA1A):c.653C>T (p.Ser218Leu) rs121908225
NM_001127222.2(CACNA1A):c.655A>G (p.Ile219Val) rs2059190992
NM_001127222.2(CACNA1A):c.6684T>G (p.Tyr2228Ter) rs2054683190
NM_001127222.2(CACNA1A):c.6697_6700dup (p.Asp2234fs)
NM_001127222.2(CACNA1A):c.682C>T (p.Gln228Ter)
NM_001127222.2(CACNA1A):c.692T>G (p.Leu231Arg) rs1599292506
NM_001127222.2(CACNA1A):c.815G>A (p.Cys272Tyr) rs771682941
NM_001127222.2(CACNA1A):c.826G>T (p.Glu276Ter) rs2059069286
NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys) rs1555773764
NM_001127222.2(CACNA1A):c.841del (p.Cys281fs) rs2145245595
NM_001127222.2(CACNA1A):c.860G>A (p.Cys287Tyr) rs121908236
NM_001127222.2(CACNA1A):c.876dup (p.Gly293fs) rs2145245392
NM_001127222.2(CACNA1A):c.877G>A (p.Gly293Arg) rs121908215
NM_001127222.2(CACNA1A):c.889G>A (p.Gly297Arg) rs1168625480
NM_001127222.2(CACNA1A):c.901T>C (p.Phe301Leu) rs1599276954
NM_001127222.2(CACNA1A):c.904G>A (p.Asp302Asn) rs863224852
NM_001127222.2(CACNA1A):c.91C>T (p.Arg31Ter)
NM_001127222.2(CACNA1A):c.928_931del (p.Thr310fs) rs1599276830
NM_001127222.2(CACNA1A):c.937C>T (p.Gln313Ter)
NM_001127222.2(CACNA1A):c.970dup (p.Leu324fs)

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