ClinVar Miner

List of variants in gene CACNA1A

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Gene type:
ClinVar version:
Total variants: 1005
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HGVS dbSNP
GRCh37/hg19 19p13.2(chr19:13561015-13604751)x1
NC_000019.10:g.(13214609_13224667)_(13286966_13300549)del
NC_000019.10:g.(13255260_13259564)_(13259701_?)del
NC_000019.10:g.(13335910_13359606)_(13359799_13371687)del
NC_000019.10:g.(13335910_13359606)_(13359799_13371687)dup
NC_000019.10:g.13212102C>T
NC_000019.10:g.13214647del
NC_000019.10:g.13228495_13228496del
NC_000019.10:g.13262728_13262729del
NC_000019.10:g.13275644del
NC_000019.10:g.13300318del
NC_000019.10:g.13330589_13330592del
NC_000019.9:g.(?_13386644)_(13387962_?)del
NC_000019.9:g.(?_13470400)_(13470633_?)del
NM_001127221.1(CACNA1A):c.*214C>T rs1057521445
NM_001127221.1(CACNA1A):c.*264G>A rs1442777428
NM_001127221.1(CACNA1A):c.*401G>A rs768129470
NM_001127221.1(CACNA1A):c.*409G>C
NM_001127221.1(CACNA1A):c.*452G>A rs1568416040
NM_001127221.1(CACNA1A):c.*478_*483del rs1568415991
NM_001127221.1(CACNA1A):c.*486G>A
NM_001127221.1(CACNA1A):c.*49G>A rs147221323
NM_001127221.1(CACNA1A):c.*503G>A rs1052515747
NM_001127221.1(CACNA1A):c.*518G>A rs754573556
NM_001127221.1(CACNA1A):c.*577C>A rs16057
NM_001127221.1(CACNA1A):c.*612G>A rs1199275549
NM_001127221.1(CACNA1A):c.*621G>A
NM_001127221.1(CACNA1A):c.*636G>T rs1239663368
NM_001127221.1(CACNA1A):c.*643C>T rs16059
NM_001127221.1(CACNA1A):c.*648C>G
NM_001127221.1(CACNA1A):c.-11C>T rs1057522015
NM_001127221.1(CACNA1A):c.-27A>G rs761508895
NM_001127221.1(CACNA1A):c.-34G>T rs897702047
NM_001127221.1(CACNA1A):c.-42C>A rs1057518510
NM_001127221.1(CACNA1A):c.1038C>T (p.Ile346=) rs527246699
NM_001127221.1(CACNA1A):c.1039G>A (p.Gly347Ser) rs977960069
NM_001127221.1(CACNA1A):c.104del (p.Gly35fs) rs1568720031
NM_001127221.1(CACNA1A):c.1059C>A (p.Asn353Lys) rs1568546593
NM_001127221.1(CACNA1A):c.1060C>T (p.Leu354Phe) rs1555767914
NM_001127221.1(CACNA1A):c.1067T>C (p.Leu356Pro) rs1568546568
NM_001127221.1(CACNA1A):c.1082+186C>A
NM_001127221.1(CACNA1A):c.1082+1G>A rs1272886269
NM_001127221.1(CACNA1A):c.1082+300C>T
NM_001127221.1(CACNA1A):c.1082+308T>C
NM_001127221.1(CACNA1A):c.1083-11T>C rs777235021
NM_001127221.1(CACNA1A):c.1083-266C>T
NM_001127221.1(CACNA1A):c.1083-4C>G rs201056216
NM_001127221.1(CACNA1A):c.1084G>T (p.Glu362Ter) rs1064796640
NM_001127221.1(CACNA1A):c.1105C>T (p.Arg369Trp) rs1057524457
NM_001127221.1(CACNA1A):c.1121G>A (p.Arg374Gln)
NM_001127221.1(CACNA1A):c.1141C>T (p.Arg381Trp) rs773593740
NM_001127221.1(CACNA1A):c.1165C>T (p.Leu389Phe) rs121908239
NM_001127221.1(CACNA1A):c.1169A>G (p.Asn390Ser) rs1064795477
NM_001127221.1(CACNA1A):c.1170T>A (p.Asn390Lys) rs768768744
NM_001127221.1(CACNA1A):c.1170T>C (p.Asn390=) rs768768744
NM_001127221.1(CACNA1A):c.1171G>A (p.Gly391Arg) rs749309558
NM_001127221.1(CACNA1A):c.117C>T (p.Gly39=) rs374304094
NM_001127221.1(CACNA1A):c.1182= (p.Glu394=)
NM_001127221.1(CACNA1A):c.1182G>A (p.Glu394=) rs2248069
NM_001127221.1(CACNA1A):c.1191A>G (p.Ser397=) rs781149861
NM_001127221.1(CACNA1A):c.1198+168T>C
NM_001127221.1(CACNA1A):c.1198+16C>A rs375761179
NM_001127221.1(CACNA1A):c.1198+1G>A rs1057518513
NM_001127221.1(CACNA1A):c.1198+301G>C
NM_001127221.1(CACNA1A):c.1198+318G>A
NM_001127221.1(CACNA1A):c.1198+326T>A
NM_001127221.1(CACNA1A):c.1198+328A>T
NM_001127221.1(CACNA1A):c.1198+48G>A
NM_001127221.1(CACNA1A):c.1198+5G>A rs1568544895
NM_001127221.1(CACNA1A):c.1199-17G>C rs190836274
NM_001127221.1(CACNA1A):c.1199-194A>G
NM_001127221.1(CACNA1A):c.1199-9C>T rs529977616
NM_001127221.1(CACNA1A):c.1199A>T (p.Glu400Val)
NM_001127221.1(CACNA1A):c.1212C>G (p.Leu404=) rs540579196
NM_001127221.1(CACNA1A):c.1213G>A (p.Ala405Thr) rs121908245
NM_001127221.1(CACNA1A):c.1215C>T (p.Ala405=) rs1346992540
NM_001127221.1(CACNA1A):c.1225A>C (p.Thr409Pro) rs187259531
NM_001127221.1(CACNA1A):c.1230C>T (p.Asp410=) rs751952553
NM_001127221.1(CACNA1A):c.1231G>T (p.Gly411Trp) rs1448345243
NM_001127221.1(CACNA1A):c.1233G>A (p.Gly411=) rs764453012
NM_001127221.1(CACNA1A):c.1247_1248dup (p.Phe417fs)
NM_001127221.1(CACNA1A):c.1255+132T>C
NM_001127221.1(CACNA1A):c.1255+2dup rs1555767190
NM_001127221.1(CACNA1A):c.1256-191T>A
NM_001127221.1(CACNA1A):c.1256-191T>G
NM_001127221.1(CACNA1A):c.1256-221C>A
NM_001127221.1(CACNA1A):c.1256-237T>C
NM_001127221.1(CACNA1A):c.1260T>C (p.Ala420=) rs1555766602
NM_001127221.1(CACNA1A):c.1264C>T (p.Arg422Trp)
NM_001127221.1(CACNA1A):c.1270A>T (p.Thr424Ser) rs1555766588
NM_001127221.1(CACNA1A):c.1293A>G (p.Thr431=) rs1057522625
NM_001127221.1(CACNA1A):c.1294G>A (p.Asp432Asn)
NM_001127221.1(CACNA1A):c.1308C>T (p.Pro436=) rs376451601
NM_001127221.1(CACNA1A):c.1323T>C (p.Asp441=) rs1555766555
NM_001127221.1(CACNA1A):c.1330G>A (p.Ala444Thr) rs866479368
NM_001127221.1(CACNA1A):c.1348+72dup
NM_001127221.1(CACNA1A):c.1348+76G>A
NM_001127221.1(CACNA1A):c.1348+7C>T rs192536793
NM_001127221.1(CACNA1A):c.1349-3C>T rs867600983
NM_001127221.1(CACNA1A):c.1351T>C (p.Ser451Pro) rs1308599413
NM_001127221.1(CACNA1A):c.1359C>T (p.Phe453=) rs41276888
NM_001127221.1(CACNA1A):c.1360G>A (p.Ala454Thr) rs41276886
NM_001127221.1(CACNA1A):c.1363C>T (p.Arg455Ter) rs886039668
NM_001127221.1(CACNA1A):c.1364G>A (p.Arg455Gln) rs561858384
NM_001127221.1(CACNA1A):c.1371C>T (p.Ser457=) rs377458008
NM_001127221.1(CACNA1A):c.1373T>A (p.Ile458Asn)
NM_001127221.1(CACNA1A):c.1392G>A (p.Glu464=) rs886043657
NM_001127221.1(CACNA1A):c.1397C>T (p.Ser466Leu)
NM_001127221.1(CACNA1A):c.1398G>A (p.Ser466=) rs374307014
NM_001127221.1(CACNA1A):c.1415dup (p.Glu473fs) rs1568528298
NM_001127221.1(CACNA1A):c.1416G>C (p.Lys472Asn)
NM_001127221.1(CACNA1A):c.1437C>G (p.Tyr479Ter)
NM_001127221.1(CACNA1A):c.1442del (p.Arg481fs) rs1555762908
NM_001127221.1(CACNA1A):c.1447A>G (p.Met483Val) rs1555762900
NM_001127221.1(CACNA1A):c.1468T>C (p.Tyr490His) rs1568528172
NM_001127221.1(CACNA1A):c.1472G>A (p.Trp491Ter) rs1568528144
NM_001127221.1(CACNA1A):c.1482_1483del (p.Ser495fs) rs1555762869
NM_001127221.1(CACNA1A):c.1493C>G (p.Ala498Gly) rs1568528100
NM_001127221.1(CACNA1A):c.1502C>T (p.Thr501Met) rs121908240
NM_001127221.1(CACNA1A):c.1503G>A (p.Thr501=) rs373192672
NM_001127221.1(CACNA1A):c.1503_1524del (p.Leu502fs) rs1555762855
NM_001127221.1(CACNA1A):c.1521T>C (p.Val507=) rs16009
NM_001127221.1(CACNA1A):c.1537G>C (p.Glu513Gln)
NM_001127221.1(CACNA1A):c.1548C>T (p.Ser516=) rs372275167
NM_001127221.1(CACNA1A):c.1549G>A (p.Asp517Asn)
NM_001127221.1(CACNA1A):c.1558+10A>C rs794727022
NM_001127221.1(CACNA1A):c.1558+121C>T
NM_001127221.1(CACNA1A):c.1558+162G>A
NM_001127221.1(CACNA1A):c.1558+183A>C
NM_001127221.1(CACNA1A):c.1558+24C>T
NM_001127221.1(CACNA1A):c.1558+259G>A
NM_001127221.1(CACNA1A):c.1558+2del
NM_001127221.1(CACNA1A):c.1559-164G>A
NM_001127221.1(CACNA1A):c.1559-289A>T
NM_001127221.1(CACNA1A):c.1559-93T>A
NM_001127221.1(CACNA1A):c.1562A>G (p.Tyr521Cys) rs886039322
NM_001127221.1(CACNA1A):c.1575T>A (p.Ile525=) rs16010
NM_001127221.1(CACNA1A):c.1589_1590del (p.Phe530fs) rs1555761603
NM_001127221.1(CACNA1A):c.1591A>G (p.Met531Val)
NM_001127221.1(CACNA1A):c.1596C>T (p.Ser532=) rs372090886
NM_001127221.1(CACNA1A):c.1597G>A (p.Glu533Lys) rs1064794263
NM_001127221.1(CACNA1A):c.159G>T (p.Ala53=) rs767892925
NM_001127221.1(CACNA1A):c.1617C>T (p.Tyr539=) rs182505786
NM_001127221.1(CACNA1A):c.1626G>A (p.Gly542=) rs375628894
NM_001127221.1(CACNA1A):c.1629G>A (p.Thr543=) rs16011
NM_001127221.1(CACNA1A):c.1637dup (p.Tyr546Ter) rs1568523843
NM_001127221.1(CACNA1A):c.1666T>C (p.Cys556Arg)
NM_001127221.1(CACNA1A):c.1671+339C>T
NM_001127221.1(CACNA1A):c.1671+7G>A rs567507041
NM_001127221.1(CACNA1A):c.1671+9T>C rs794727054
NM_001127221.1(CACNA1A):c.1672-17C>T rs755846938
NM_001127221.1(CACNA1A):c.1672-346G>A
NM_001127221.1(CACNA1A):c.1672G>T (p.Val558Phe) rs1568519134
NM_001127221.1(CACNA1A):c.1693G>A (p.Glu565Lys) rs1057519099
NM_001127221.1(CACNA1A):c.1695G>A (p.Glu565=)
NM_001127221.1(CACNA1A):c.1699A>C (p.Ile567Leu) rs1568519066
NM_001127221.1(CACNA1A):c.1701C>T (p.Ile567=) rs190603219
NM_001127221.1(CACNA1A):c.1704G>A (p.Trp568Ter) rs1555759066
NM_001127221.1(CACNA1A):c.1725A>G (p.Thr575=) rs1555759053
NM_001127221.1(CACNA1A):c.173_175del (p.Thr58del) rs1064795796
NM_001127221.1(CACNA1A):c.1742T>A (p.Val581Glu) rs1064797233
NM_001127221.1(CACNA1A):c.1748G>A (p.Arg583Gln) rs121908217
NM_001127221.1(CACNA1A):c.175A>G (p.Met59Val)
NM_001127221.1(CACNA1A):c.1779C>G (p.Val593=) rs16012
NM_001127221.1(CACNA1A):c.1784+18C>A rs16013
NM_001127221.1(CACNA1A):c.1784+7C>A rs202005119
NM_001127221.1(CACNA1A):c.1785-20C>T rs73513425
NM_001127221.1(CACNA1A):c.1785-5G>A rs1085307739
NM_001127221.1(CACNA1A):c.1785-6C>T rs201350764
NM_001127221.1(CACNA1A):c.1785G>A (p.Lys595=) rs756972061
NM_001127221.1(CACNA1A):c.1812C>T (p.Val604=) rs560241650
NM_001127221.1(CACNA1A):c.1886C>T (p.Ala629Val)
NM_001127221.1(CACNA1A):c.1892T>C (p.Leu631Ser) rs1057521564
NM_001127221.1(CACNA1A):c.1908C>T (p.Phe636=) rs115452236
NM_001127221.1(CACNA1A):c.1909G>C (p.Gly637Arg)
NM_001127221.1(CACNA1A):c.1913G>A (p.Gly638Asp) rs121908246
NM_001127221.1(CACNA1A):c.1913G>T (p.Gly638Val) rs121908246
NM_001127221.1(CACNA1A):c.1915C>T (p.Gln639Ter) rs1555758842
NM_001127221.1(CACNA1A):c.1916+112G>A
NM_001127221.1(CACNA1A):c.1917-39G>A
NM_001127221.1(CACNA1A):c.1917-4G>A rs191026552
NM_001127221.1(CACNA1A):c.1925del (p.Phe642fs) rs1568518139
NM_001127221.1(CACNA1A):c.1949del (p.Asn650fs) rs1568518113
NM_001127221.1(CACNA1A):c.1968A>T (p.Ala656=)
NM_001127221.1(CACNA1A):c.1986T>C (p.Phe662=) rs368033271
NM_001127221.1(CACNA1A):c.1987C>T (p.Gln663Ter) rs1064795856
NM_001127221.1(CACNA1A):c.1990-16C>A rs1057523685
NM_001127221.1(CACNA1A):c.1992C>T (p.Ile664=) rs764413479
NM_001127221.1(CACNA1A):c.1993C>T (p.Leu665=) rs1246140836
NM_001127221.1(CACNA1A):c.1997C>T (p.Thr666Met) rs121908212
NM_001127221.1(CACNA1A):c.2009G>A (p.Trp670Ter) rs1555757537
NM_001127221.1(CACNA1A):c.2013C>T (p.Asn671=)
NM_001127221.1(CACNA1A):c.2014G>A (p.Glu672Lys) rs1434942721
NM_001127221.1(CACNA1A):c.2021T>C (p.Met674Thr) rs1064796036
NM_001127221.1(CACNA1A):c.2025C>A (p.Tyr675Ter)
NM_001127221.1(CACNA1A):c.2025C>T (p.Tyr675=) rs940460024
NM_001127221.1(CACNA1A):c.2028C>T (p.Asp676=) rs1170735669
NM_001127221.1(CACNA1A):c.2042_2043del (p.Gln681fs) rs1064794262
NM_001127221.1(CACNA1A):c.2042del (p.Gln681fs) rs1555757523
NM_001127221.1(CACNA1A):c.2048G>T (p.Gly683Val) rs1057524618
NM_001127221.1(CACNA1A):c.2049C>T (p.Gly683=) rs535077726
NM_001127221.1(CACNA1A):c.2059G>A (p.Gly687Ser) rs1064795643
NM_001127221.1(CACNA1A):c.2065G>T (p.Val689Leu) rs762530372
NM_001127221.1(CACNA1A):c.2070_2071delinsGGAG (p.Phe690fs) rs1568514371
NM_001127221.1(CACNA1A):c.2091G>A (p.Leu697=) rs908321451
NM_001127221.1(CACNA1A):c.2094G>A (p.Thr698=) rs16016
NM_001127221.1(CACNA1A):c.2107+6C>T rs372970603
NM_001127221.1(CACNA1A):c.2108-15C>T rs190471428
NM_001127221.1(CACNA1A):c.2127C>A (p.Phe709Leu) rs762654239
NM_001127221.1(CACNA1A):c.2130G>T (p.Leu710Phe) rs886041654
NM_001127221.1(CACNA1A):c.2133C>G (p.Ala711=) rs16017
NM_001127221.1(CACNA1A):c.2134A>T (p.Ile712Phe) rs1568514116
NM_001127221.1(CACNA1A):c.2136C>A (p.Ile712=)
NM_001127221.1(CACNA1A):c.2136C>G (p.Ile712Met) rs764839814
NM_001127221.1(CACNA1A):c.2137G>A (p.Ala713Thr) rs886037945
NM_001127221.1(CACNA1A):c.2141T>C (p.Val714Ala) rs121908213
NM_001127221.1(CACNA1A):c.2145C>A (p.Asp715Glu) rs121908218
NM_001127221.1(CACNA1A):c.2145C>G (p.Asp715Glu) rs121908218
NM_001127221.1(CACNA1A):c.2147A>C (p.Asn716Thr) rs1555757432
NM_001127221.1(CACNA1A):c.2175+14G>A
NM_001127221.1(CACNA1A):c.2175+16G>A rs895983254
NM_001127221.1(CACNA1A):c.2175+4G>A
NM_001127221.1(CACNA1A):c.2175+9G>A rs368353124
NM_001127221.1(CACNA1A):c.2176-11G>A rs367573994
NM_001127221.1(CACNA1A):c.2176-12C>T rs16018
NM_001127221.1(CACNA1A):c.2176-271A>G
NM_001127221.1(CACNA1A):c.2176-284T>A
NM_001127221.1(CACNA1A):c.2176-62C>G
NM_001127221.1(CACNA1A):c.2194G>T (p.Glu732Ter) rs1555756737
NM_001127221.1(CACNA1A):c.2195A>C (p.Glu732Ala) rs16019
NM_001127221.1(CACNA1A):c.2259C>G (p.Ser753=) rs764816582
NM_001127221.1(CACNA1A):c.2259C>T (p.Ser753=)
NM_001127221.1(CACNA1A):c.2261C>T (p.Ala754Val) rs200355966
NM_001127221.1(CACNA1A):c.2268C>T (p.Asn756=) rs1382705855
NM_001127221.1(CACNA1A):c.2283-212C>T
NM_001127221.1(CACNA1A):c.2283-5T>A rs1555756483
NM_001127221.1(CACNA1A):c.2283-68C>A
NM_001127221.1(CACNA1A):c.2284A>G (p.Lys762Glu) rs1196111017
NM_001127221.1(CACNA1A):c.2295G>C (p.Gln765His) rs747111223
NM_001127221.1(CACNA1A):c.2313_2340dup (p.Glu781delinsGlnValArgValGlyAlaAlaAspGlnTer) rs1057520154
NM_001127221.1(CACNA1A):c.2320_2322delinsAC (p.Val774fs) rs1555756461
NM_001127221.1(CACNA1A):c.2323T>C (p.Trp775Arg) rs1568509826
NM_001127221.1(CACNA1A):c.2340T>C (p.Ser780=) rs1555756457
NM_001127221.1(CACNA1A):c.2359T>C (p.Leu787=) rs1555756445
NM_001127221.1(CACNA1A):c.235_237del (p.Phe79del) rs1568719711
NM_001127221.1(CACNA1A):c.2365G>A (p.Ala789Thr) rs1568509752
NM_001127221.1(CACNA1A):c.2377G>T (p.Ala793Ser) rs753248182
NM_001127221.1(CACNA1A):c.2393T>C (p.Met798Thr) rs121908241
NM_001127221.1(CACNA1A):c.2394G>A (p.Met798Ile) rs370746809
NM_001127221.1(CACNA1A):c.2396A>T (p.Asp799Val) rs1060499675
NM_001127221.1(CACNA1A):c.2400G>A (p.Pro800=) rs996453280
NM_001127221.1(CACNA1A):c.2403C>T (p.Asp801=) rs376074188
NM_001127221.1(CACNA1A):c.2407C>A (p.Arg803Ser) rs760816963
NM_001127221.1(CACNA1A):c.2411G>A (p.Trp804Ter)
NM_001127221.1(CACNA1A):c.2430G>T (p.Arg810=)
NM_001127221.1(CACNA1A):c.2438G>A (p.Arg813Gln) rs953797733
NM_001127221.1(CACNA1A):c.2438G>T (p.Arg813Leu)
NM_001127221.1(CACNA1A):c.2484G>A (p.Pro828=) rs1568509413
NM_001127221.1(CACNA1A):c.2486A>G (p.Gln829Arg) rs753196787
NM_001127221.1(CACNA1A):c.2490G>A (p.Glu830=) rs755434242
NM_001127221.1(CACNA1A):c.2494C>A (p.Arg832Ser) rs1464680327
NM_001127221.1(CACNA1A):c.2494C>T (p.Arg832Cys)
NM_001127221.1(CACNA1A):c.2498_2500ACA[2] (p.Asn835del) rs750962335
NM_001127221.1(CACNA1A):c.2504A>C (p.Asn835Thr)
NM_001127221.1(CACNA1A):c.2524G>T (p.Ala842Ser) rs1057522204
NM_001127221.1(CACNA1A):c.2542C>T (p.Gln848Ter) rs1420078244
NM_001127221.1(CACNA1A):c.2585_2602del (p.Gln862_Asp867del) rs767951499
NM_001127221.1(CACNA1A):c.2609G>A (p.Arg870Gln) rs1057518589
NM_001127221.1(CACNA1A):c.2620G>C (p.Gly874Arg) rs750660386
NM_001127221.1(CACNA1A):c.2622C>T (p.Gly874=) rs761874927
NM_001127221.1(CACNA1A):c.2623T>G (p.Ser875Ala) rs751675055
NM_001127221.1(CACNA1A):c.2624C>T (p.Ser875Leu) rs1057522802
NM_001127221.1(CACNA1A):c.2636A>T (p.Asp879Val) rs1568508904
NM_001127221.1(CACNA1A):c.2654C>T (p.Ala885Val)
NM_001127221.1(CACNA1A):c.2658A>G (p.Gly886=) rs1057524746
NM_001127221.1(CACNA1A):c.2679C>T (p.Ser893=) rs780515850
NM_001127221.1(CACNA1A):c.2681G>A (p.Arg894Gln) rs374664760
NM_001127221.1(CACNA1A):c.2690C>G (p.Pro897Arg) rs121908242
NM_001127221.1(CACNA1A):c.2695G>A (p.Gly899Ser)
NM_001127221.1(CACNA1A):c.2695G>C (p.Gly899Arg)
NM_001127221.1(CACNA1A):c.2710C>T (p.His904Tyr)
NM_001127221.1(CACNA1A):c.2721G>A (p.Arg907=) rs909344317
NM_001127221.1(CACNA1A):c.2732T>A (p.Leu911Gln) rs953766694
NM_001127221.1(CACNA1A):c.2732T>G (p.Leu911Arg) rs953766694
NM_001127221.1(CACNA1A):c.2737C>T (p.Gln913Ter) rs1555756161
NM_001127221.1(CACNA1A):c.2740C>T (p.Pro914Ser) rs16020
NM_001127221.1(CACNA1A):c.2740_2742delinsTCT (p.Pro914Ser) rs886043758
NM_001127221.1(CACNA1A):c.2742C>G (p.Pro914=) rs16021
NM_001127221.1(CACNA1A):c.2742C>T (p.Pro914=) rs16021
NM_001127221.1(CACNA1A):c.2752G>A (p.Glu918Lys) rs368081042
NM_001127221.1(CACNA1A):c.2754G>C (p.Glu918Asp) rs16022
NM_001127221.1(CACNA1A):c.2757C>T (p.Gly919=) rs371757002
NM_001127221.1(CACNA1A):c.2758G>A (p.Glu920Lys)
NM_001127221.1(CACNA1A):c.2758G>T (p.Glu920Ter) rs1555756130
NM_001127221.1(CACNA1A):c.2760G>A (p.Glu920=) rs747307828
NM_001127221.1(CACNA1A):c.2768G>T (p.Arg923Leu) rs752824390
NM_001127221.1(CACNA1A):c.2777C>T (p.Ala926Val)
NM_001127221.1(CACNA1A):c.2781G>A (p.Gly927=) rs1035531839
NM_001127221.1(CACNA1A):c.2786C>T (p.Pro929Leu)
NM_001127221.1(CACNA1A):c.2788_2789insT (p.His930fs) rs1555756091
NM_001127221.1(CACNA1A):c.2790C>T (p.His930=) rs1555756078
NM_001127221.1(CACNA1A):c.2791C>T (p.Arg931Trp) rs367882437
NM_001127221.1(CACNA1A):c.27G>T (p.Pro9=) rs547576283
NM_001127221.1(CACNA1A):c.2800G>A (p.Val934Met)
NM_001127221.1(CACNA1A):c.2802G>A (p.Val934=) rs761397410
NM_001127221.1(CACNA1A):c.2807_2817dup (p.Ser940fs)
NM_001127221.1(CACNA1A):c.2809C>T (p.Gln937Ter) rs1318353774
NM_001127221.1(CACNA1A):c.2814G>T (p.Gly938=) rs1322679497
NM_001127221.1(CACNA1A):c.2815G>C (p.Gly939Arg) rs771423362
NM_001127221.1(CACNA1A):c.2816dup (p.Ser940fs) rs587776694
NM_001127221.1(CACNA1A):c.2821A>G (p.Arg941Gly)
NM_001127221.1(CACNA1A):c.2826G>A (p.Glu942=) rs374511141
NM_001127221.1(CACNA1A):c.2829C>T (p.Ser943=) rs181024112
NM_001127221.1(CACNA1A):c.2836G>A (p.Gly946Arg) rs527593196
NM_001127221.1(CACNA1A):c.2836G>C (p.Gly946Arg) rs527593196
NM_001127221.1(CACNA1A):c.2847C>G (p.Arg949=) rs559862641
NM_001127221.1(CACNA1A):c.2847_2856del (p.Ala952fs) rs1555755977
NM_001127221.1(CACNA1A):c.2855C>T (p.Ala952Val) rs1442995931
NM_001127221.1(CACNA1A):c.2856G>A (p.Ala952=) rs761522418
NM_001127221.1(CACNA1A):c.2860G>A (p.Gly954Arg) rs1057518292
NM_001127221.1(CACNA1A):c.2868del (p.Arg957fs) rs786200962
NM_001127221.1(CACNA1A):c.2870G>A (p.Arg957Gln) rs551380805
NM_001127221.1(CACNA1A):c.2870G>T (p.Arg957Leu) rs551380805
NM_001127221.1(CACNA1A):c.2882C>T (p.Ala961Val) rs762396014
NM_001127221.1(CACNA1A):c.2889C>T (p.Arg963=) rs1443085599
NM_001127221.1(CACNA1A):c.2890A>C (p.Arg964=) rs1555755942
NM_001127221.1(CACNA1A):c.2892G>A (p.Arg964=) rs1390620211
NM_001127221.1(CACNA1A):c.2893C>T (p.Pro965Ser) rs1383144531
NM_001127221.1(CACNA1A):c.2894C>A (p.Pro965His) rs1161926847
NM_001127221.1(CACNA1A):c.2898G>C (p.Gly966=) rs1057522107
NM_001127221.1(CACNA1A):c.2899G>A (p.Glu967Lys) rs747456771
NM_001127221.1(CACNA1A):c.2902G>T (p.Glu968Ter) rs1555755929
NM_001127221.1(CACNA1A):c.2906del (p.Gly969fs) rs1555755926
NM_001127221.1(CACNA1A):c.2907_2932del (p.Pro970fs) rs1555755909
NM_001127221.1(CACNA1A):c.2910G>A (p.Pro970=) rs772557121
NM_001127221.1(CACNA1A):c.2912A>G (p.Glu971Gly) rs1555755916
NM_001127221.1(CACNA1A):c.2927G>A (p.Arg976Gln)
NM_001127221.1(CACNA1A):c.2927G>T (p.Arg976Leu) rs748418783
NM_001127221.1(CACNA1A):c.293+277A>G
NM_001127221.1(CACNA1A):c.293+53G>A
NM_001127221.1(CACNA1A):c.294-4A>G rs1400044284
NM_001127221.1(CACNA1A):c.294-6C>A rs764502828
NM_001127221.1(CACNA1A):c.294-6C>T rs764502828
NM_001127221.1(CACNA1A):c.2941C>T (p.Arg981Cys)
NM_001127221.1(CACNA1A):c.2958G>C (p.Pro986=) rs749357610
NM_001127221.1(CACNA1A):c.2961_2962dup (p.Arg988fs) rs1555755878
NM_001127221.1(CACNA1A):c.2963G>C (p.Arg988Pro) rs955869211
NM_001127221.1(CACNA1A):c.2971_2976GAGGGC[1] (p.991_992EG[1]) rs764399373
NM_001127221.1(CACNA1A):c.2971_2976GAGGGC[2] (p.991_992EG[2]) rs764399373
NM_001127221.1(CACNA1A):c.2971_2976GAGGGC[4] (p.991_992EG[4]) rs764399373
NM_001127221.1(CACNA1A):c.2978A>T (p.Glu993Val) rs16023
NM_001127221.1(CACNA1A):c.297C>T (p.Pro99=) rs370211834
NM_001127221.1(CACNA1A):c.2985_2990dup (p.Gly996_Pro997dup) rs995883431
NM_001127221.1(CACNA1A):c.29C>T (p.Ala10Val) rs952757731
NM_001127221.1(CACNA1A):c.3007A>G (p.Arg1003Gly) rs1175036875
NM_001127221.1(CACNA1A):c.3009_3011del (p.Arg1005del)
NM_001127221.1(CACNA1A):c.3019C>T (p.Arg1007Trp)
NM_001127221.1(CACNA1A):c.301G>C (p.Glu101Gln) rs886037944
NM_001127221.1(CACNA1A):c.3020G>C (p.Arg1007Pro) rs1268938831
NM_001127221.1(CACNA1A):c.3028G>A (p.Ala1010Thr) rs1555755834
NM_001127221.1(CACNA1A):c.3031C>G (p.Pro1011Ala) rs28413664
NM_001127221.1(CACNA1A):c.3042C>A (p.Tyr1014Ter) rs1568507151
NM_001127221.1(CACNA1A):c.3043G>A (p.Glu1015Lys) rs16024
NM_001127221.1(CACNA1A):c.3046G>A (p.Gly1016Arg) rs190551509
NM_001127221.1(CACNA1A):c.3052G>C (p.Ala1018Pro) rs1131691393
NM_001127221.1(CACNA1A):c.3056G>A (p.Arg1019Gln)
NM_001127221.1(CACNA1A):c.3056G>C (p.Arg1019Pro)
NM_001127221.1(CACNA1A):c.3060G>A (p.Arg1020=) rs16025
NM_001127221.1(CACNA1A):c.3066C>A (p.Asp1022Glu) rs1038705410
NM_001127221.1(CACNA1A):c.3070G>A (p.Glu1024Lys) rs1555755809
NM_001127221.1(CACNA1A):c.3082C>G (p.Arg1028Gly) rs1064794406
NM_001127221.1(CACNA1A):c.3093-165A>G
NM_001127221.1(CACNA1A):c.3093-324C>T
NM_001127221.1(CACNA1A):c.3093-5C>T rs976595665
NM_001127221.1(CACNA1A):c.3095A>G (p.Glu1032Gly) rs886043930
NM_001127221.1(CACNA1A):c.3103G>A (p.Gly1035Ser)
NM_001127221.1(CACNA1A):c.3106dup (p.Ser1036fs) rs1131691712
NM_001127221.1(CACNA1A):c.3112G>A (p.Val1038Ile)
NM_001127221.1(CACNA1A):c.3120G>T (p.Val1040=) rs745981005
NM_001127221.1(CACNA1A):c.3122C>T (p.Ser1041Leu) rs776628272
NM_001127221.1(CACNA1A):c.3132C>A (p.Asn1044Lys) rs1187232740
NM_001127221.1(CACNA1A):c.3157C>T (p.Gln1053Ter) rs1568495944
NM_001127221.1(CACNA1A):c.3165G>A (p.Leu1055=) rs1057522586
NM_001127221.1(CACNA1A):c.3167G>C (p.Gly1056Ala)
NM_001127221.1(CACNA1A):c.3169C>T (p.Arg1057Cys) rs187393245
NM_001127221.1(CACNA1A):c.3170G>A (p.Arg1057His) rs200850308
NM_001127221.1(CACNA1A):c.3173A>C (p.Gln1058Pro) rs1273138619
NM_001127221.1(CACNA1A):c.3178C>T (p.Pro1060Ser)
NM_001127221.1(CACNA1A):c.3181C>T (p.Pro1061Ser) rs969592968
NM_001127221.1(CACNA1A):c.3182C>G (p.Pro1061Arg) rs763400188
NM_001127221.1(CACNA1A):c.3218del (p.Lys1073fs) rs1555753042
NM_001127221.1(CACNA1A):c.3229G>A (p.Ala1077Thr) rs554091859
NM_001127221.1(CACNA1A):c.322A>G (p.Ile108Val)
NM_001127221.1(CACNA1A):c.3230C>T (p.Ala1077Val) rs199512932
NM_001127221.1(CACNA1A):c.3236C>T (p.Ser1079Leu)
NM_001127221.1(CACNA1A):c.3239C>A (p.Ala1080Asp) rs1064797232
NM_001127221.1(CACNA1A):c.3240C>T (p.Ala1080=) rs16026
NM_001127221.1(CACNA1A):c.3241G>A (p.Ala1081Thr)
NM_001127221.1(CACNA1A):c.3250G>A (p.Gly1084Ser)
NM_001127221.1(CACNA1A):c.3264C>T (p.His1088=) rs776799566
NM_001127221.1(CACNA1A):c.3264_3319del (p.Leu1091fs) rs1555752975
NM_001127221.1(CACNA1A):c.3265G>A (p.Ala1089Thr) rs371820430
NM_001127221.1(CACNA1A):c.3268G>A (p.Gly1090Ser)
NM_001127221.1(CACNA1A):c.3268G>T (p.Gly1090Cys) rs201311000
NM_001127221.1(CACNA1A):c.3291G>A (p.Lys1097=) rs1555752995
NM_001127221.1(CACNA1A):c.329C>T (p.Ala110Val) rs1085307798
NM_001127221.1(CACNA1A):c.3307G>A (p.Asp1103Asn) rs372823282
NM_001127221.1(CACNA1A):c.330G>A (p.Ala110=) rs375486960
NM_001127221.1(CACNA1A):c.3311C>T (p.Pro1104Leu)
NM_001127221.1(CACNA1A):c.3312C>T (p.Pro1104=) rs374749004
NM_001127221.1(CACNA1A):c.3313G>A (p.Gly1105Ser) rs16027
NM_001127221.1(CACNA1A):c.3313_3318dup (p.Gly1105_Pro1106dup) rs776584949
NM_001127221.1(CACNA1A):c.3328A>T (p.Ile1110Phe) rs1568495538
NM_001127221.1(CACNA1A):c.3334G>T (p.Ala1112Ser) rs1215692574
NM_001127221.1(CACNA1A):c.3337A>C (p.Met1113Leu)
NM_001127221.1(CACNA1A):c.3358G>A (p.Ala1120Thr) rs199745070
NM_001127221.1(CACNA1A):c.3358G>C (p.Ala1120Pro) rs199745070
NM_001127221.1(CACNA1A):c.3371G>A (p.Arg1124Gln)
NM_001127221.1(CACNA1A):c.3375G>A (p.Thr1125=) rs770311284
NM_001127221.1(CACNA1A):c.3386C>T (p.Pro1129Leu) rs754208553
NM_001127221.1(CACNA1A):c.3387G>A (p.Pro1129=) rs370541345
NM_001127221.1(CACNA1A):c.3412C>G (p.Pro1138Ala) rs199793367
NM_001127221.1(CACNA1A):c.3413C>G (p.Pro1138Arg) rs200333359
NM_001127221.1(CACNA1A):c.3414del (p.Lys1139fs) rs746790849
NM_001127221.1(CACNA1A):c.3416A>G (p.Lys1139Arg) rs746555911
NM_001127221.1(CACNA1A):c.3424G>A (p.Glu1142Lys)
NM_001127221.1(CACNA1A):c.3432C>G (p.Ser1144Arg)
NM_001127221.1(CACNA1A):c.3439G>A (p.Val1147Ile) rs376365775
NM_001127221.1(CACNA1A):c.345C>G (p.Leu115=) rs747917423
NM_001127221.1(CACNA1A):c.3460C>G (p.Gln1154Glu) rs201612257
NM_001127221.1(CACNA1A):c.3467A>G (p.Asn1156Ser)
NM_001127221.1(CACNA1A):c.3467A>T (p.Asn1156Ile) rs992828062
NM_001127221.1(CACNA1A):c.346G>A (p.Ala116Thr) rs778725158
NM_001127221.1(CACNA1A):c.3484A>G (p.Arg1162Gly)
NM_001127221.1(CACNA1A):c.3486G>A (p.Arg1162=) rs772768681
NM_001127221.1(CACNA1A):c.3492C>T (p.Pro1164=) rs771567638
NM_001127221.1(CACNA1A):c.3493G>A (p.Asp1165Asn) rs775838621
NM_001127221.1(CACNA1A):c.3513C>A (p.Ile1171=) rs1431054685
NM_001127221.1(CACNA1A):c.3523T>G (p.Cys1175Gly) rs996509493
NM_001127221.1(CACNA1A):c.3528A>C (p.Pro1176=) rs886044439
NM_001127221.1(CACNA1A):c.3532C>A (p.Pro1178Thr) rs1057522207
NM_001127221.1(CACNA1A):c.3533C>G (p.Pro1178Arg) rs201789073
NM_001127221.1(CACNA1A):c.3534C>A (p.Pro1178=) rs184723350
NM_001127221.1(CACNA1A):c.3534C>G (p.Pro1178=) rs184723350
NM_001127221.1(CACNA1A):c.3535C>A (p.Leu1179Ile)
NM_001127221.1(CACNA1A):c.3535C>G (p.Leu1179Val)
NM_001127221.1(CACNA1A):c.3535del (p.Leu1179fs)
NM_001127221.1(CACNA1A):c.3535dup (p.Leu1179fs) rs757953057
NM_001127221.1(CACNA1A):c.3536del (p.Leu1179fs)
NM_001127221.1(CACNA1A):c.3538A>C (p.Asn1180His) rs964526144
NM_001127221.1(CACNA1A):c.3547G>A (p.Val1183Ile) rs369742607
NM_001127221.1(CACNA1A):c.3549C>T (p.Val1183=) rs16029
NM_001127221.1(CACNA1A):c.3550G>A (p.Val1184Ile) rs373224251
NM_001127221.1(CACNA1A):c.3556+3G>T rs1057518586
NM_001127221.1(CACNA1A):c.3567C>T (p.Asn1189=) rs200209920
NM_001127221.1(CACNA1A):c.357G>A (p.Gln119=) rs1568661972
NM_001127221.1(CACNA1A):c.3587C>T (p.Pro1196Leu) rs1568493631
NM_001127221.1(CACNA1A):c.3604_3606AAG[1] (p.Lys1203del) rs772989979
NM_001127221.1(CACNA1A):c.3609_3611GGA[3] (p.Glu1207del) rs750826355
NM_001127221.1(CACNA1A):c.3612G>A (p.Glu1204=) rs529584159
NM_001127221.1(CACNA1A):c.3621A>G (p.Glu1207=) rs201236364
NM_001127221.1(CACNA1A):c.3625G>A (p.Asp1209Asn)
NM_001127221.1(CACNA1A):c.3636A>C (p.Glu1212Asp) rs1555752275
NM_001127221.1(CACNA1A):c.3637G>T (p.Asp1213Tyr) rs201269793
NM_001127221.1(CACNA1A):c.3640G>A (p.Gly1214Ser) rs767000559
NM_001127221.1(CACNA1A):c.3652A>G (p.Met1218Val) rs372017604
NM_001127221.1(CACNA1A):c.3659C>T (p.Pro1220Leu) rs573365997
NM_001127221.1(CACNA1A):c.3686C>T (p.Thr1229Met) rs1057518532
NM_001127221.1(CACNA1A):c.3687G>A (p.Thr1229=) rs368048030
NM_001127221.1(CACNA1A):c.368A>T (p.Asp123Val) rs1555789420
NM_001127221.1(CACNA1A):c.3695+156G>A
NM_001127221.1(CACNA1A):c.3695+1G>A rs1315533129
NM_001127221.1(CACNA1A):c.3695+1G>T rs1315533129
NM_001127221.1(CACNA1A):c.3695+20A>G rs934863410
NM_001127221.1(CACNA1A):c.3696-107G>A
NM_001127221.1(CACNA1A):c.3696-127T>C
NM_001127221.1(CACNA1A):c.3696-20C>T
NM_001127221.1(CACNA1A):c.3696C>G (p.Pro1232=) rs1555751817
NM_001127221.1(CACNA1A):c.3697dup (p.Leu1233fs) rs1568493323
NM_001127221.1(CACNA1A):c.3704G>A (p.Arg1235His) rs373183625
NM_001127221.1(CACNA1A):c.3704G>C (p.Arg1235Pro)
NM_001127221.1(CACNA1A):c.3727C>G (p.Leu1243Val) rs1275961783
NM_001127221.1(CACNA1A):c.3729G>A (p.Leu1243=) rs1568491811
NM_001127221.1(CACNA1A):c.3730C>T (p.Arg1244Cys) rs1057524818
NM_001127221.1(CACNA1A):c.3753C>T (p.Leu1251=) rs1238454656
NM_001127221.1(CACNA1A):c.3767T>C (p.Met1256Thr) rs1085307644
NM_001127221.1(CACNA1A):c.3777C>T (p.Ile1259=) rs759641758
NM_001127221.1(CACNA1A):c.3786C>T (p.Ala1262=) rs1057523661
NM_001127221.1(CACNA1A):c.3787G>A (p.Ala1263Thr)
NM_001127221.1(CACNA1A):c.3790G>A (p.Glu1264Lys) rs1555751762
NM_001127221.1(CACNA1A):c.3797del (p.Pro1266fs) rs587776692
NM_001127221.1(CACNA1A):c.3806C>T (p.Pro1269Leu) rs1057522815
NM_001127221.1(CACNA1A):c.3809A>G (p.Asn1270Ser) rs997272721
NM_001127221.1(CACNA1A):c.3817C>A (p.Arg1273=)
NM_001127221.1(CACNA1A):c.3817C>T (p.Arg1273Trp) rs372970430
NM_001127221.1(CACNA1A):c.3820_3822AAC[1] (p.Asn1275del) rs1085307864
NM_001127221.1(CACNA1A):c.3825+1G>A rs794727355
NM_001127221.1(CACNA1A):c.3825C>T (p.Asn1275=) rs201230929
NM_001127221.1(CACNA1A):c.3826-15T>A rs1389346234
NM_001127221.1(CACNA1A):c.3826-295G>T
NM_001127221.1(CACNA1A):c.3826-3C>T rs1057521929
NM_001127221.1(CACNA1A):c.3832C>T (p.Arg1278Ter) rs121909323
NM_001127221.1(CACNA1A):c.3846C>G (p.Tyr1282Ter) rs774224202
NM_001127221.1(CACNA1A):c.3846C>T (p.Tyr1282=) rs774224202
NM_001127221.1(CACNA1A):c.3864T>C (p.Phe1288=) rs16030
NM_001127221.1(CACNA1A):c.3885+10G>C rs183712582
NM_001127221.1(CACNA1A):c.3885+13T>C rs779233415
NM_001127221.1(CACNA1A):c.3885+7G>A rs376836245
NM_001127221.1(CACNA1A):c.3886-15T>C rs767715097
NM_001127221.1(CACNA1A):c.3886-90G>A
NM_001127221.1(CACNA1A):c.3894C>T (p.Asp1298=) rs1555749519
NM_001127221.1(CACNA1A):c.3914A>C (p.Gln1305Pro) rs755279579
NM_001127221.1(CACNA1A):c.3928dup (p.Arg1310fs) rs1568485109
NM_001127221.1(CACNA1A):c.3929G>A (p.Arg1310His) rs1568485102
NM_001127221.1(CACNA1A):c.3949G>A (p.Asp1317Asn) rs1568485068
NM_001127221.1(CACNA1A):c.399+3G>A rs1275496281
NM_001127221.1(CACNA1A):c.3992+11T>C rs762686149
NM_001127221.1(CACNA1A):c.3992+13G>A
NM_001127221.1(CACNA1A):c.3992+13G>T rs373480312
NM_001127221.1(CACNA1A):c.3992+16A>G rs149764550
NM_001127221.1(CACNA1A):c.3992+1G>A rs587776693
NM_001127221.1(CACNA1A):c.3992C>T (p.Thr1331Ile)
NM_001127221.1(CACNA1A):c.3993-2A>G rs1057524483
NM_001127221.1(CACNA1A):c.400-123G>T
NM_001127221.1(CACNA1A):c.400-173C>T
NM_001127221.1(CACNA1A):c.4003A>G (p.Lys1335Glu) rs121908223
NM_001127221.1(CACNA1A):c.4012G>T (p.Asp1338Tyr) rs1568473283
NM_001127221.1(CACNA1A):c.4036C>T (p.Arg1346Ter) rs1568473233
NM_001127221.1(CACNA1A):c.4037G>A (p.Arg1346Gln) rs121908230
NM_001127221.1(CACNA1A):c.4045C>T (p.Arg1349Trp) rs1064794858
NM_001127221.1(CACNA1A):c.4046G>A (p.Arg1349Gln) rs1057520918
NM_001127221.1(CACNA1A):c.4050G>T (p.Val1350=) rs1265632174
NM_001127221.1(CACNA1A):c.4054C>T (p.Arg1352Ter) rs1568473171
NM_001127221.1(CACNA1A):c.4055G>T (p.Arg1352Leu) rs1555745467
NM_001127221.1(CACNA1A):c.4058C>T (p.Pro1353Leu) rs1064794808
NM_001127221.1(CACNA1A):c.4070T>G (p.Ile1357Ser) rs886041541
NM_001127221.1(CACNA1A):c.4075C>T (p.Arg1359Trp) rs1555745461
NM_001127221.1(CACNA1A):c.4082C>A (p.Pro1361Gln) rs1064795800
NM_001127221.1(CACNA1A):c.4092+137T>A
NM_001127221.1(CACNA1A):c.4092+3G>A rs781595676
NM_001127221.1(CACNA1A):c.4092+71T>C
NM_001127221.1(CACNA1A):c.4093-165G>A
NM_001127221.1(CACNA1A):c.4093-207T>G
NM_001127221.1(CACNA1A):c.4093-3C>G rs1555745158
NM_001127221.1(CACNA1A):c.4093-9A>T rs369269870
NM_001127221.1(CACNA1A):c.4099T>A (p.Phe1367Ile) rs1057520749
NM_001127221.1(CACNA1A):c.409G>A (p.Glu137Lys) rs1057518116
NM_001127221.1(CACNA1A):c.4105T>C (p.Cys1369Arg) rs886041909
NM_001127221.1(CACNA1A):c.4128C>T (p.Asn1376=)
NM_001127221.1(CACNA1A):c.4138A>T (p.Ile1380Phe)
NM_001127221.1(CACNA1A):c.4151A>G (p.Tyr1384Cys) rs121908219
NM_001127221.1(CACNA1A):c.4176_4177insATCTTC (p.Val1393_Val1394insIlePhe)
NM_001127221.1(CACNA1A):c.4177G>A (p.Val1393Met) rs794727411
NM_001127221.1(CACNA1A):c.4177G>C (p.Val1393Leu) rs794727411
NM_001127221.1(CACNA1A):c.41_55dup (p.Gly14_Gly18dup) rs1057519100
NM_001127221.1(CACNA1A):c.41del (p.Gly14fs) rs1555797179
NM_001127221.1(CACNA1A):c.4202G>A (p.Gly1401Glu) rs1555745111
NM_001127221.1(CACNA1A):c.4208T>G (p.Phe1403Cys) rs121908227
NM_001127221.1(CACNA1A):c.4224C>T (p.Asp1408=) rs201200430
NM_001127221.1(CACNA1A):c.4231A>G (p.Lys1411Glu) rs932772664
NM_001127221.1(CACNA1A):c.4253G>A (p.Arg1418Gln) rs1568471977
NM_001127221.1(CACNA1A):c.4254-4G>A rs201785699
NM_001127221.1(CACNA1A):c.4266C>T (p.Leu1422=) rs1173445536
NM_001127221.1(CACNA1A):c.4284G>T (p.Glu1428Asp) rs768693060
NM_001127221.1(CACNA1A):c.4293G>A (p.Ala1431=) rs555959123
NM_001127221.1(CACNA1A):c.4293G>T (p.Ala1431=) rs555959123
NM_001127221.1(CACNA1A):c.4294C>T (p.Arg1432Ter) rs1568470104
NM_001127221.1(CACNA1A):c.4295G>A (p.Arg1432Gln)
NM_001127221.1(CACNA1A):c.4314G>A (p.Lys1438=) rs572036869
NM_001127221.1(CACNA1A):c.4350G>C (p.Leu1450=) rs1419042501
NM_001127221.1(CACNA1A):c.4366G>T (p.Val1456Leu) rs121908237
NM_001127221.1(CACNA1A):c.4374G>A (p.Thr1458=) rs368100270
NM_001127221.1(CACNA1A):c.4386G>A (p.Trp1462Ter) rs1057518069
NM_001127221.1(CACNA1A):c.4391+12G>A rs924927963
NM_001127221.1(CACNA1A):c.4391+19A>G rs1057524029
NM_001127221.1(CACNA1A):c.4391+221C>A
NM_001127221.1(CACNA1A):c.4391+8G>A rs376248243
NM_001127221.1(CACNA1A):c.439G>A (p.Glu147Lys) rs1568659847
NM_001127221.1(CACNA1A):c.4401G>A (p.Lys1467=) rs1555743957
NM_001127221.1(CACNA1A):c.4413C>T (p.Asp1471=) rs374555263
NM_001127221.1(CACNA1A):c.4414G>A (p.Ala1472Thr) rs1187916307
NM_001127221.1(CACNA1A):c.4429C>T (p.Gln1477Ter) rs1555743942
NM_001127221.1(CACNA1A):c.4443C>T (p.Pro1481=)
NM_001127221.1(CACNA1A):c.4444G>A (p.Gly1482Arg) rs121908232
NM_001127221.1(CACNA1A):c.4451G>T (p.Arg1484Leu) rs1271930393
NM_001127221.1(CACNA1A):c.4469T>C (p.Phe1490Ser) rs121908233
NM_001127221.1(CACNA1A):c.4472A>G (p.Tyr1491Cys) rs1064795901
NM_001127221.1(CACNA1A):c.4477G>A (p.Val1493Ile) rs121908234
NM_001127221.1(CACNA1A):c.4482C>T (p.Tyr1494=) rs1057522060
NM_001127221.1(CACNA1A):c.4497_4499CTT[2] (p.Phe1502del) rs886041279
NM_001127221.1(CACNA1A):c.4504_4506del (p.Phe1502del) rs1131691374
NM_001127221.1(CACNA1A):c.4522G>T (p.Ala1508Ser) rs886037946
NM_001127221.1(CACNA1A):c.4523C>A (p.Ala1508Asp) rs1064794629
NM_001127221.1(CACNA1A):c.4582G>C (p.Glu1528Gln) rs1568468148
NM_001127221.1(CACNA1A):c.458T>C (p.Ile153Thr) rs369134549
NM_001127221.1(CACNA1A):c.4594-4G>A rs370348070
NM_001127221.1(CACNA1A):c.4594-9C>G rs16032
NM_001127221.1(CACNA1A):c.4621G>A (p.Ala1541Thr)
NM_001127221.1(CACNA1A):c.4628C>T (p.Pro1543Leu) rs773901223
NM_001127221.1(CACNA1A):c.4629G>A (p.Pro1543=) rs768317498
NM_001127221.1(CACNA1A):c.462C>T (p.Ala154=) rs1800039
NM_001127221.1(CACNA1A):c.4635C>T (p.Thr1545=) rs150378053
NM_001127221.1(CACNA1A):c.4636C>T (p.Arg1546Ter) rs121909324
NM_001127221.1(CACNA1A):c.4647G>A (p.Pro1549=) rs199854716
NM_001127221.1(CACNA1A):c.4665C>G (p.Phe1555Leu) rs182161386
NM_001127221.1(CACNA1A):c.4673G>A (p.Arg1558His) rs755172189
NM_001127221.1(CACNA1A):c.4687G>A (p.Val1563Met) rs1568465560
NM_001127221.1(CACNA1A):c.4696C>T (p.Pro1566Ser) rs1353824164
NM_001127221.1(CACNA1A):c.4698G>A (p.Pro1566=) rs753924411
NM_001127221.1(CACNA1A):c.4711A>T (p.Thr1571Ser) rs750368591
NM_001127221.1(CACNA1A):c.4713G>T (p.Thr1571=) rs761547761
NM_001127221.1(CACNA1A):c.4723A>G (p.Met1575Val) rs1555743201
NM_001127221.1(CACNA1A):c.4758+12A>C rs1057522757
NM_001127221.1(CACNA1A):c.4759-97G>A
NM_001127221.1(CACNA1A):c.4809C>T (p.Ile1603=) rs372240227
NM_001127221.1(CACNA1A):c.4810G>A (p.Val1604Ile) rs943715197
NM_001127221.1(CACNA1A):c.4839T>G (p.Cys1613Trp) rs781413708
NM_001127221.1(CACNA1A):c.4845del (p.Val1617fs) rs587776695
NM_001127221.1(CACNA1A):c.4869+13T>C rs368876802
NM_001127221.1(CACNA1A):c.486C>T (p.Gly162=) rs753180610
NM_001127221.1(CACNA1A):c.4870-301A>G
NM_001127221.1(CACNA1A):c.4870-71A>C
NM_001127221.1(CACNA1A):c.4870-8C>T rs1057522362
NM_001127221.1(CACNA1A):c.4879C>T (p.Arg1627Cys)
NM_001127221.1(CACNA1A):c.4880G>A (p.Arg1627His)
NM_001127221.1(CACNA1A):c.4882G>A (p.Asp1628Asn)
NM_001127221.1(CACNA1A):c.488C>T (p.Ser163Phe) rs1555789107
NM_001127221.1(CACNA1A):c.4899C>T (p.Phe1633=) rs374613316
NM_001127221.1(CACNA1A):c.4900G>A (p.Asp1634Asn) rs1555740805
NM_001127221.1(CACNA1A):c.4929C>T (p.Thr1643=) rs16036
NM_001127221.1(CACNA1A):c.4930G>A (p.Asp1644Asn) rs1064795531
NM_001127221.1(CACNA1A):c.4953+1G>T rs1568457080
NM_001127221.1(CACNA1A):c.4954-14C>T rs1019678447
NM_001127221.1(CACNA1A):c.4982G>A (p.Arg1661His) rs121908216
NM_001127221.1(CACNA1A):c.4990C>T (p.Arg1664Ter) rs1555738369
NM_001127221.1(CACNA1A):c.4991G>A (p.Arg1664Gln) rs121908247
NM_001127221.1(CACNA1A):c.4999C>T (p.Arg1667Trp) rs121908220
NM_001127221.1(CACNA1A):c.5000G>A (p.Arg1667Gln) rs1568447650
NM_001127221.1(CACNA1A):c.5000G>C (p.Arg1667Pro)
NM_001127221.1(CACNA1A):c.5017C>T (p.Arg1673Cys) rs794727558
NM_001127221.1(CACNA1A):c.5018G>C (p.Arg1673Pro) rs1057519429
NM_001127221.1(CACNA1A):c.5034C>A (p.Ile1678=) rs1555738339
NM_001127221.1(CACNA1A):c.5035C>T (p.Arg1679Cys) rs121908243
NM_001127221.1(CACNA1A):c.5047T>C (p.Trp1683Arg) rs121908221
NM_001127221.1(CACNA1A):c.504C>G (p.Gly168=) rs1555789105
NM_001127221.1(CACNA1A):c.5051C>T (p.Thr1684Ile) rs1568447571
NM_001127221.1(CACNA1A):c.5059C>T (p.Gln1687Ter)
NM_001127221.1(CACNA1A):c.5063C>T (p.Ser1688Phe) rs1568447557
NM_001127221.1(CACNA1A):c.5070+20G>A rs184517632
NM_001127221.1(CACNA1A):c.5083G>A (p.Val1695Ile) rs121908224
NM_001127221.1(CACNA1A):c.5091G>A (p.Leu1697=)
NM_001127221.1(CACNA1A):c.5098G>A (p.Ala1700Thr) rs371273055
NM_001127221.1(CACNA1A):c.5115C>T (p.Ile1705=) rs1057521708
NM_001127221.1(CACNA1A):c.5118T>G (p.Tyr1706Ter)
NM_001127221.1(CACNA1A):c.5126T>C (p.Ile1709Thr) rs121909326
NM_001127221.1(CACNA1A):c.5128G>A (p.Gly1710Arg) rs1555738200
NM_001127221.1(CACNA1A):c.5134C>A (p.Gln1712Lys) rs1064795751
NM_001127221.1(CACNA1A):c.5136+10G>A rs369033909
NM_001127221.1(CACNA1A):c.5137-20G>A rs756590078
NM_001127221.1(CACNA1A):c.5158G>A (p.Asp1720Asn) rs368257155
NM_001127221.1(CACNA1A):c.5160C>T (p.Asp1720=) rs758409135
NM_001127221.1(CACNA1A):c.5169C>T (p.Asp1723=) rs200501726
NM_001127221.1(CACNA1A):c.5173G>A (p.Asp1725Asn) rs371595464
NM_001127221.1(CACNA1A):c.5203G>A (p.Glu1735Lys) rs1064795744
NM_001127221.1(CACNA1A):c.5207A>T (p.His1736Leu) rs121908229
NM_001127221.1(CACNA1A):c.5208C>T (p.His1736=) rs1057523955
NM_001127221.1(CACNA1A):c.5241G>C (p.Met1747Ile)
NM_001127221.1(CACNA1A):c.5252+165_5252+189del
NM_001127221.1(CACNA1A):c.5252+209C>T
NM_001127221.1(CACNA1A):c.5252+78G>T
NM_001127221.1(CACNA1A):c.5253-55G>A
NM_001127221.1(CACNA1A):c.5253-8G>C rs1555737120
NM_001127221.1(CACNA1A):c.5259C>T (p.Ala1753=) rs753902560
NM_001127221.1(CACNA1A):c.5262C>T (p.Thr1754=) rs376684786
NM_001127221.1(CACNA1A):c.5263G>A (p.Gly1755Arg) rs1555737113
NM_001127221.1(CACNA1A):c.5266G>A (p.Glu1756Lys) rs121908226
NM_001127221.1(CACNA1A):c.526G>A (p.Val176Met) rs1057521920
NM_001127221.1(CACNA1A):c.526G>C (p.Val176Leu) rs1057521920
NM_001127221.1(CACNA1A):c.5271T>C (p.Ala1757=) rs373678557
NM_001127221.1(CACNA1A):c.5319G>A (p.Lys1773=) rs886043622
NM_001127221.1(CACNA1A):c.5339G>A (p.Arg1780Gln)
NM_001127221.1(CACNA1A):c.536C>T (p.Thr179Met)
NM_001127221.1(CACNA1A):c.539+10G>A rs375079448
NM_001127221.1(CACNA1A):c.539+14G>A rs1057523199
NM_001127221.1(CACNA1A):c.539+152C>A
NM_001127221.1(CACNA1A):c.539+17A>G rs752280152
NM_001127221.1(CACNA1A):c.539+20C>T rs369959565
NM_001127221.1(CACNA1A):c.539+8G>A rs372925573
NM_001127221.1(CACNA1A):c.539+9C>T rs369146237
NM_001127221.1(CACNA1A):c.5395T>C (p.Ser1799Pro) rs1568443280
NM_001127221.1(CACNA1A):c.5396C>T (p.Ser1799Leu) rs1064794261
NM_001127221.1(CACNA1A):c.5397G>A (p.Ser1799=) rs201681631
NM_001127221.1(CACNA1A):c.5403+15A>C rs373246283
NM_001127221.1(CACNA1A):c.5403+18G>A rs16040
NM_001127221.1(CACNA1A):c.5403+2T>C rs1057519197
NM_001127221.1(CACNA1A):c.5403+3G>A rs1034627495
NM_001127221.1(CACNA1A):c.5403+7C>T rs1046598864
NM_001127221.1(CACNA1A):c.5404-10G>T rs370129945
NM_001127221.1(CACNA1A):c.5404-14C>T rs16042
NM_001127221.1(CACNA1A):c.5418T>C (p.Phe1806=) rs1057523399
NM_001127221.1(CACNA1A):c.5421C>T (p.Val1807=)
NM_001127221.1(CACNA1A):c.5422G>A (p.Ala1808Thr) rs1555736565
NM_001127221.1(CACNA1A):c.5422G>T (p.Ala1808Ser) rs1555736565
NM_001127221.1(CACNA1A):c.5424C>T (p.Ala1808=) rs372359926
NM_001127221.1(CACNA1A):c.5428A>C (p.Ile1810Leu) rs121908214
NM_001127221.1(CACNA1A):c.5442T>G (p.Phe1814Leu)
NM_001127221.1(CACNA1A):c.5454C>T (p.Thr1818=) rs188863534
NM_001127221.1(CACNA1A):c.5455C>G (p.Arg1819Gly)
NM_001127221.1(CACNA1A):c.5455C>T (p.Arg1819Ter) rs267606696
NM_001127221.1(CACNA1A):c.546G>A (p.Leu182=) rs368347143
NM_001127221.1(CACNA1A):c.5471T>C (p.Leu1824Pro) rs1057521706
NM_001127221.1(CACNA1A):c.5474G>A (p.Gly1825Asp) rs1064795321
NM_001127221.1(CACNA1A):c.5482C>G (p.His1828Asp) rs1064795658
NM_001127221.1(CACNA1A):c.5491G>A (p.Glu1831Lys) rs746886324
NM_001127221.1(CACNA1A):c.549G>A (p.Ala183=) rs16004
NM_001127221.1(CACNA1A):c.549G>T (p.Ala183=) rs16004
NM_001127221.1(CACNA1A):c.5511C>T (p.Ala1837=) rs750338421
NM_001127221.1(CACNA1A):c.5520C>A (p.Asp1840Glu) rs372083869
NM_001127221.1(CACNA1A):c.5524G>A (p.Ala1842Thr) rs753229469
NM_001127221.1(CACNA1A):c.5531+16G>A rs775890060
NM_001127221.1(CACNA1A):c.5531+6A>G
NM_001127221.1(CACNA1A):c.5531+7A>G rs367551746
NM_001127221.1(CACNA1A):c.5532-14T>C rs371000214
NM_001127221.1(CACNA1A):c.5532-64C>T
NM_001127221.1(CACNA1A):c.5559_5560del (p.Tyr1853_Ser1854delinsTer) rs1568440440
NM_001127221.1(CACNA1A):c.5575A>G (p.Ile1859Val)
NM_001127221.1(CACNA1A):c.5584C>T (p.Pro1862Ser) rs1057518533
NM_001127221.1(CACNA1A):c.5590G>A (p.Gly1864Ser)
NM_001127221.1(CACNA1A):c.5605T>C (p.Cys1869Arg) rs121908244
NM_001127221.1(CACNA1A):c.5613T>C (p.His1871=) rs201292159
NM_001127221.1(CACNA1A):c.561G>A (p.Thr187=) rs777316026
NM_001127221.1(CACNA1A):c.5628+1173G>A rs1568439088
NM_001127221.1(CACNA1A):c.5628+1547C>T
NM_001127221.1(CACNA1A):c.5628+1G>A rs1555736262
NM_001127221.1(CACNA1A):c.5629-56G>A
NM_001127221.1(CACNA1A):c.5629-6C>G
NM_001127221.1(CACNA1A):c.5640del (p.Met1881fs)
NM_001127221.1(CACNA1A):c.5652C>G (p.Pro1884=) rs61741139
NM_001127221.1(CACNA1A):c.5653G>A (p.Val1885Ile) rs201836062
NM_001127221.1(CACNA1A):c.5655C>T (p.Val1885=) rs17846921
NM_001127221.1(CACNA1A):c.5666A>G (p.Asn1889Ser) rs756378742
NM_001127221.1(CACNA1A):c.5673C>T (p.Val1891=) rs1044642598
NM_001127221.1(CACNA1A):c.5688C>T (p.Thr1896=) rs757291476
NM_001127221.1(CACNA1A):c.571_578delinsGAACT (p.Leu191_Thr193delinsGluLeu) rs1064795173
NM_001127221.1(CACNA1A):c.5734+14A>G rs762304728
NM_001127221.1(CACNA1A):c.5734+14del rs762645821
NM_001127221.1(CACNA1A):c.5734+159G>T
NM_001127221.1(CACNA1A):c.5734+19C>T rs1259224644
NM_001127221.1(CACNA1A):c.5734+20G>A rs774752183
NM_001127221.1(CACNA1A):c.5734+49C>T
NM_001127221.1(CACNA1A):c.5735-197G>A
NM_001127221.1(CACNA1A):c.5735-20T>C rs1425639727
NM_001127221.1(CACNA1A):c.5735-311G>A
NM_001127221.1(CACNA1A):c.5735-6T>C rs16043
NM_001127221.1(CACNA1A):c.5735-75A>G
NM_001127221.1(CACNA1A):c.5735-8C>T rs1057521521
NM_001127221.1(CACNA1A):c.5742C>T (p.Ala1914=) rs16044
NM_001127221.1(CACNA1A):c.5743G>A (p.Asp1915Asn)
NM_001127221.1(CACNA1A):c.574C>T (p.Arg192Trp) rs1057518779
NM_001127221.1(CACNA1A):c.5758G>A (p.Asp1920Asn) rs1064794441
NM_001127221.1(CACNA1A):c.575G>A (p.Arg192Gln) rs121908211
NM_001127221.1(CACNA1A):c.5760C>T (p.Asp1920=) rs368042511
NM_001127221.1(CACNA1A):c.5771G>A (p.Arg1924Gln) rs771636070
NM_001127221.1(CACNA1A):c.578C>T (p.Thr193Met) rs1365721398
NM_001127221.1(CACNA1A):c.5798A>G (p.Asn1933Ser) rs1205866071
NM_001127221.1(CACNA1A):c.579G>A (p.Thr193=) rs41276894
NM_001127221.1(CACNA1A):c.5814G>A (p.Thr1938=)
NM_001127221.1(CACNA1A):c.5842+15C>T rs756095565
NM_001127221.1(CACNA1A):c.5842+1G>T rs951196653
NM_001127221.1(CACNA1A):c.5843-14G>A rs184658006
NM_001127221.1(CACNA1A):c.5843-16G>A rs771333825
NM_001127221.1(CACNA1A):c.5843-17C>T rs556502230
NM_001127221.1(CACNA1A):c.5843-82C>G
NM_001127221.1(CACNA1A):c.5847G>A (p.Thr1949=)
NM_001127221.1(CACNA1A):c.584G>A (p.Arg195Lys) rs121908222
NM_001127221.1(CACNA1A):c.5871C>T (p.Tyr1957=) rs371972266
NM_001127221.1(CACNA1A):c.5883G>A (p.Met1961Ile) rs1085307557
NM_001127221.1(CACNA1A):c.5894A>G (p.Tyr1965Cys) rs1555732391
NM_001127221.1(CACNA1A):c.5900G>A (p.Arg1967Gln) rs199886234
NM_001127221.1(CACNA1A):c.5924A>C (p.Gln1975Pro)
NM_001127221.1(CACNA1A):c.592C>G (p.Arg198Gly) rs886042230
NM_001127221.1(CACNA1A):c.592C>T (p.Arg198Ter)
NM_001127221.1(CACNA1A):c.5933G>A (p.Arg1978His) rs1057521547
NM_001127221.1(CACNA1A):c.5935G>A (p.Glu1979Lys) rs1266642291
NM_001127221.1(CACNA1A):c.593G>A (p.Arg198Gln) rs797045424
NM_001127221.1(CACNA1A):c.5943+12G>A rs780841537
NM_001127221.1(CACNA1A):c.5943+15G>A rs370364972
NM_001127221.1(CACNA1A):c.5943+185G>A
NM_001127221.1(CACNA1A):c.5943+18C>G rs1057522421
NM_001127221.1(CACNA1A):c.5943+229C>T
NM_001127221.1(CACNA1A):c.5943+5G>A
NM_001127221.1(CACNA1A):c.5944-2A>G rs1555731992
NM_001127221.1(CACNA1A):c.5944-52C>T
NM_001127221.1(CACNA1A):c.5948G>A (p.Arg1983Gln) rs745775887
NM_001127221.1(CACNA1A):c.5987C>T (p.Pro1996Leu) rs1568424203
NM_001127221.1(CACNA1A):c.5989A>G (p.Thr1997Ala) rs141963371
NM_001127221.1(CACNA1A):c.5990C>T (p.Thr1997Met) rs778274864
NM_001127221.1(CACNA1A):c.5991G>A (p.Thr1997=) rs17846933
NM_001127221.1(CACNA1A):c.5997A>G (p.Glu1999=)
NM_001127221.1(CACNA1A):c.5C>T (p.Ala2Val) rs927310190
NM_001127221.1(CACNA1A):c.6004C>T (p.Pro2002Ser) rs751947412
NM_001127221.1(CACNA1A):c.6008G>A (p.Gly2003Asp) rs1402384624
NM_001127221.1(CACNA1A):c.6016G>A (p.Ala2006Thr) rs374063403
NM_001127221.1(CACNA1A):c.6018C>T (p.Ala2006=) rs369675855
NM_001127221.1(CACNA1A):c.6020T>G (p.Leu2007Arg) rs759624463
NM_001127221.1(CACNA1A):c.6031C>T (p.Gln2011Ter) rs1355062450
NM_001127221.1(CACNA1A):c.6046G>T (p.Gly2016Ter) rs746848153
NM_001127221.1(CACNA1A):c.6047G>A (p.Gly2016Glu)
NM_001127221.1(CACNA1A):c.6058G>T (p.Ala2020Ser) rs1393616835
NM_001127221.1(CACNA1A):c.6064G>A (p.Glu2022Lys) rs202002033
NM_001127221.1(CACNA1A):c.6069C>T (p.Ser2023=) rs886043571
NM_001127221.1(CACNA1A):c.6070G>A (p.Gly2024Ser) rs574805525
NM_001127221.1(CACNA1A):c.6072C>T (p.Gly2024=) rs773076084
NM_001127221.1(CACNA1A):c.6080A>G (p.Glu2027Gly)
NM_001127221.1(CACNA1A):c.6117del (p.Met2039fs) rs1064796199
NM_001127221.1(CACNA1A):c.6128C>T (p.Thr2043Met) rs563345694
NM_001127221.1(CACNA1A):c.6129G>A (p.Thr2043=) rs7249722
NM_001127221.1(CACNA1A):c.6144G>A (p.Pro2048=)
NM_001127221.1(CACNA1A):c.6145G>A (p.Glu2049Lys) rs1568423655
NM_001127221.1(CACNA1A):c.6158dup (p.Thr2054fs) rs1158454977
NM_001127221.1(CACNA1A):c.6163G>A (p.Asp2055Asn) rs761560224
NM_001127221.1(CACNA1A):c.6176G>C (p.Ser2059Thr)
NM_001127221.1(CACNA1A):c.6192+41G>A
NM_001127221.1(CACNA1A):c.6193-2A>C rs1064796709
NM_001127221.1(CACNA1A):c.6193-3C>A rs368480650
NM_001127221.1(CACNA1A):c.6193-4G>A rs769551839
NM_001127221.1(CACNA1A):c.6205C>T (p.Arg2069Ter)
NM_001127221.1(CACNA1A):c.6206G>A (p.Arg2069Gln) rs769040794
NM_001127221.1(CACNA1A):c.6213G>A (p.Met2071Ile) rs1555731738
NM_001127221.1(CACNA1A):c.6220G>A (p.Asp2074Asn) rs1057524336
NM_001127221.1(CACNA1A):c.622G>A (p.Gly208Arg) rs1568581246
NM_001127221.1(CACNA1A):c.6234C>A (p.Asp2078Glu) rs751515136
NM_001127221.1(CACNA1A):c.6237C>T (p.Ser2079=) rs758320697
NM_001127221.1(CACNA1A):c.6238G>A (p.Glu2080Lys) rs752513542
NM_001127221.1(CACNA1A):c.6244T>C (p.Tyr2082His) rs1174830824
NM_001127221.1(CACNA1A):c.6260G>T (p.Gly2087Val) rs765051582
NM_001127221.1(CACNA1A):c.6265G>A (p.Gly2089Ser) rs1259126760
NM_001127221.1(CACNA1A):c.6268C>A (p.Arg2090=) rs200093958
NM_001127221.1(CACNA1A):c.6269G>A (p.Arg2090Gln)
NM_001127221.1(CACNA1A):c.6284C>T (p.Pro2095Leu)
NM_001127221.1(CACNA1A):c.6298G>A (p.Glu2100Lys) rs757385012
NM_001127221.1(CACNA1A):c.62C>T (p.Ala21Val) rs15999
NM_001127221.1(CACNA1A):c.6306+69A>C
NM_001127221.1(CACNA1A):c.6308G>A (p.Arg2103Lys) rs866974416
NM_001127221.1(CACNA1A):c.631+14C>T
NM_001127221.1(CACNA1A):c.631+4C>T rs1568581241
NM_001127221.1(CACNA1A):c.631+5G>A rs786200963
NM_001127221.1(CACNA1A):c.6319C>T (p.Arg2107Trp)
NM_001127221.1(CACNA1A):c.632-18C>A rs1057523722
NM_001127221.1(CACNA1A):c.632-7C>A rs1555774874
NM_001127221.1(CACNA1A):c.6320G>T (p.Arg2107Leu) rs373229577
NM_001127221.1(CACNA1A):c.632G>A (p.Ser211Asn) rs1085307866
NM_001127221.1(CACNA1A):c.633T>C (p.Ser211=) rs202216404
NM_001127221.1(CACNA1A):c.6342+10G>C rs376238265
NM_001127221.1(CACNA1A):c.6342+11C>T rs190260468
NM_001127221.1(CACNA1A):c.6342+12G>A rs371246823
NM_001127221.1(CACNA1A):c.6342+309T>G
NM_001127221.1(CACNA1A):c.6342+9C>T rs369361580
NM_001127221.1(CACNA1A):c.6343-192G>A
NM_001127221.1(CACNA1A):c.6343-19G>A rs916904971
NM_001127221.1(CACNA1A):c.6345C>G (p.Thr2115=) rs16049
NM_001127221.1(CACNA1A):c.6349T>G (p.Ser2117Ala) rs576057388
NM_001127221.1(CACNA1A):c.6364A>T (p.Met2122Leu) rs1317004203
NM_001127221.1(CACNA1A):c.6370C>T (p.Arg2124Cys)
NM_001127221.1(CACNA1A):c.6371del (p.Arg2124fs) rs1555730902
NM_001127221.1(CACNA1A):c.6375A>G (p.Ser2125=) rs760994682
NM_001127221.1(CACNA1A):c.6381C>T (p.Ser2127=) rs16050
NM_001127221.1(CACNA1A):c.6382G>A (p.Val2128Met) rs368183370
NM_001127221.1(CACNA1A):c.6400C>T (p.Arg2134Ter) rs1555730878
NM_001127221.1(CACNA1A):c.6401G>A (p.Arg2134Gln) rs779044548
NM_001127221.1(CACNA1A):c.6403C>T (p.Arg2135Cys) rs121908235
NM_001127221.1(CACNA1A):c.6411C>T (p.Asp2137=) rs779701046
NM_001127221.1(CACNA1A):c.6434C>T (p.Pro2145Leu) rs750077868
NM_001127221.1(CACNA1A):c.6438C>T (p.Pro2146=) rs1456597171
NM_001127221.1(CACNA1A):c.6439G>A (p.Glu2147Lys)
NM_001127221.1(CACNA1A):c.643G>A (p.Val215Ile) rs1555774867
NM_001127221.1(CACNA1A):c.6451C>T (p.Arg2151Trp)
NM_001127221.1(CACNA1A):c.6452G>A (p.Arg2151Gln) rs751044309
NM_001127221.1(CACNA1A):c.6455_6466del (p.His2152_Arg2155del) rs1469809752
NM_001127221.1(CACNA1A):c.6459C>A (p.His2153Gln)
NM_001127221.1(CACNA1A):c.6464G>T (p.Arg2155Leu)
NM_001127221.1(CACNA1A):c.6467G>A (p.Arg2156His) rs572722130
NM_001127221.1(CACNA1A):c.6467G>T (p.Arg2156Leu) rs572722130
NM_001127221.1(CACNA1A):c.6469C>T (p.Arg2157Cys) rs554393704
NM_001127221.1(CACNA1A):c.6470G>A (p.Arg2157His) rs755749925
NM_001127221.1(CACNA1A):c.6471C>T (p.Arg2157=) rs745336852
NM_001127221.1(CACNA1A):c.6475C>T (p.Arg2159Cys)
NM_001127221.1(CACNA1A):c.6476G>A (p.Arg2159His) rs375859889
NM_001127221.1(CACNA1A):c.6486C>T (p.Arg2162=) rs745609731
NM_001127221.1(CACNA1A):c.6487G>A (p.Ala2163Thr)
NM_001127221.1(CACNA1A):c.6492dup (p.Glu2165Ter) rs1555730801
NM_001127221.1(CACNA1A):c.6497G>A (p.Arg2166His) rs727503832
NM_001127221.1(CACNA1A):c.6508C>T (p.Arg2170Cys) rs375354077
NM_001127221.1(CACNA1A):c.6517G>A (p.Asp2173Asn)
NM_001127221.1(CACNA1A):c.6517G>T (p.Asp2173Tyr) rs370289732
NM_001127221.1(CACNA1A):c.6529+11C>G rs767916527
NM_001127221.1(CACNA1A):c.6529+84G>A
NM_001127221.1(CACNA1A):c.6530-134C>T
NM_001127221.1(CACNA1A):c.6530-16C>T rs752985059
NM_001127221.1(CACNA1A):c.6530-19T>C rs375949210
NM_001127221.1(CACNA1A):c.6530-7G>A rs1555730686
NM_001127221.1(CACNA1A):c.6530G>T (p.Gly2177Val) rs763045560
NM_001127221.1(CACNA1A):c.653C>T (p.Ser218Leu) rs121908225
NM_001127221.1(CACNA1A):c.654G>A (p.Ser218=) rs201991581
NM_001127221.1(CACNA1A):c.654G>C (p.Ser218=) rs201991581
NM_001127221.1(CACNA1A):c.6564C>T (p.Ser2188=) rs371116746
NM_001127221.1(CACNA1A):c.6576G>A (p.Pro2192=) rs554430594
NM_001127221.1(CACNA1A):c.6578C>T (p.Ser2193Leu) rs1325697290
NM_001127221.1(CACNA1A):c.6587G>A (p.Arg2196Gln) rs373192655
NM_001127221.1(CACNA1A):c.6590_6601del (p.Asp2197_Arg2200del) rs763941704
NM_001127221.1(CACNA1A):c.6598C>T (p.Arg2200Trp) rs1477386827
NM_001127221.1(CACNA1A):c.6604C>T (p.Arg2202Trp) rs1032588483
NM_001127221.1(CACNA1A):c.6611A>G (p.Lys2204Arg) rs1057521770
NM_001127221.1(CACNA1A):c.6613G>A (p.Asp2205Asn) rs747673128
NM_001127221.1(CACNA1A):c.6616C>T (p.Arg2206Trp) rs780467849
NM_001127221.1(CACNA1A):c.6617G>A (p.Arg2206Gln) rs756685971
NM_001127221.1(CACNA1A):c.6630dup (p.His2211fs) rs1568419053
NM_001127221.1(CACNA1A):c.6633C>G (p.His2211Gln) rs1006425986
NM_001127221.1(CACNA1A):c.6633_6635CCA[10] (p.His2220dup) rs759331923
NM_001127221.1(CACNA1A):c.6633_6635CCA[11] (p.His2219_His2220dup) rs759331923
NM_001127221.1(CACNA1A):c.6633_6635CCA[5] (p.His2217_His2220del) rs759331923
NM_001127221.1(CACNA1A):c.6633_6635CCA[6] (p.His2218_His2220del) rs759331923
NM_001127221.1(CACNA1A):c.6633_6635CCA[8] (p.His2220del) rs759331923
NM_001127221.1(CACNA1A):c.6640C>T (p.His2214Tyr) rs1555730624
NM_001127221.1(CACNA1A):c.6644_6661del (p.His2215_His2220del) rs1453912866
NM_001127221.1(CACNA1A):c.6649C>T (p.His2217Tyr) rs760470308
NM_001127221.1(CACNA1A):c.6650_6661del (p.His2217_His2220del) rs770368215
NM_001127221.1(CACNA1A):c.6653_6661del (p.His2218_His2220del) rs776181081
NM_001127221.1(CACNA1A):c.6656_6661del (p.His2219_His2220del) rs774721955
NM_001127221.1(CACNA1A):c.6659A>C (p.His2220Pro)
NM_001127221.1(CACNA1A):c.6659_6660delinsCC (p.His2220Pro) rs1085307607
NM_001127221.1(CACNA1A):c.6659_6661del (p.His2220del) rs749638821
NM_001127221.1(CACNA1A):c.6660T>C (p.His2220=) rs16051
NM_001127221.1(CACNA1A):c.6660delinsCCAC (p.His2220dup) rs1057518615
NM_001127221.1(CACNA1A):c.6660delinsCCACCAC (p.His2219_His2220dup) rs1057518615
NM_001127221.1(CACNA1A):c.6661_6662insACC (p.His2220dup) rs768950814
NM_001127221.1(CACNA1A):c.6662C>A (p.Pro2221His) rs16052
NM_001127221.1(CACNA1A):c.6662_6664ACC[3] (p.His2218_His2220dup) rs768950814
NM_001127221.1(CACNA1A):c.6665C>T (p.Pro2222Leu) rs778551911
NM_001127221.1(CACNA1A):c.6668C>T (p.Pro2223Leu) rs1336146310
NM_001127221.1(CACNA1A):c.6670C>T (p.Pro2224Ser)
NM_001127221.1(CACNA1A):c.6672C>A (p.Pro2224=)
NM_001127221.1(CACNA1A):c.6682C>T (p.Arg2228Cys) rs757715357
NM_001127221.1(CACNA1A):c.6683G>A (p.Arg2228His)
NM_001127221.1(CACNA1A):c.6683G>T (p.Arg2228Leu) rs1064793075
NM_001127221.1(CACNA1A):c.6692A>G (p.Gln2231Arg)
NM_001127221.1(CACNA1A):c.6697C>T (p.Arg2233Trp) rs751926317
NM_001127221.1(CACNA1A):c.6701C>T (p.Pro2234Leu) rs1317740666
NM_001127221.1(CACNA1A):c.6707A>G (p.His2236Arg) rs758639263
NM_001127221.1(CACNA1A):c.6709G>T (p.Gly2237Cys) rs752808137
NM_001127221.1(CACNA1A):c.6713_6722del (p.Arg2238fs) rs1042488847
NM_001127221.1(CACNA1A):c.6717_6722dup (p.2239_2240AR[3])
NM_001127221.1(CACNA1A):c.6718C>T (p.Arg2240Trp)
NM_001127221.1(CACNA1A):c.6719G>A (p.Arg2240Gln)
NM_001127221.1(CACNA1A):c.6724C>T (p.Arg2242Trp)
NM_001127221.1(CACNA1A):c.6732G>T (p.Gln2244His)
NM_001127221.1(CACNA1A):c.6733C>T (p.Arg2245Cys)
NM_001127221.1(CACNA1A):c.6734G>A (p.Arg2245His) rs1057521565
NM_001127221.1(CACNA1A):c.6740C>T (p.Ser2247Phe) rs768312851
NM_001127221.1(CACNA1A):c.6754G>A (p.Glu2252Lys)
NM_001127221.1(CACNA1A):c.6763G>C (p.Glu2255Gln) rs779063280
NM_001127221.1(CACNA1A):c.676_784+1178del
NM_001127221.1(CACNA1A):c.6772G>A (p.Ala2258Thr) rs1057523197
NM_001127221.1(CACNA1A):c.6773C>G (p.Ala2258Gly) rs755099305
NM_001127221.1(CACNA1A):c.6773C>T (p.Ala2258Val) rs755099305
NM_001127221.1(CACNA1A):c.6777C>T (p.His2259=) rs766371895
NM_001127221.1(CACNA1A):c.6778C>A (p.Arg2260=) rs750267834
NM_001127221.1(CACNA1A):c.6778C>T (p.Arg2260Trp) rs750267834
NM_001127221.1(CACNA1A):c.6783+256G>C
NM_001127221.1(CACNA1A):c.6783+3G>C
NM_001127221.1(CACNA1A):c.6784-11G>A rs757167417
NM_001127221.1(CACNA1A):c.6784-17A>G rs1289629816
NM_001127221.1(CACNA1A):c.680T>G (p.Leu227Arg) rs1057522420
NM_001127221.1(CACNA1A):c.688G>A (p.Gly230Ser) rs1555774859
NM_001127221.1(CACNA1A):c.689G>T (p.Gly230Val) rs1568574634
NM_001127221.1(CACNA1A):c.699A>G (p.Leu233=) rs749587119
NM_001127221.1(CACNA1A):c.712_726dup (p.Leu238_Ile242dup) rs1568574602
NM_001127221.1(CACNA1A):c.743A>G (p.Tyr248Cys) rs121908238
NM_001127221.1(CACNA1A):c.745A>G (p.Met249Val) rs1005732031
NM_001127221.1(CACNA1A):c.757C>T (p.His253Tyr) rs121908228
NM_001127221.1(CACNA1A):c.766T>C (p.Cys256Arg) rs121908231
NM_001127221.1(CACNA1A):c.784+10C>T rs781363787
NM_001127221.1(CACNA1A):c.784+313C>T
NM_001127221.1(CACNA1A):c.784+9A>G rs746215285
NM_001127221.1(CACNA1A):c.785-120del
NM_001127221.1(CACNA1A):c.785-93G>A
NM_001127221.1(CACNA1A):c.796G>A (p.Gly266Ser) rs17846908
NM_001127221.1(CACNA1A):c.814T>C (p.Cys272Arg) rs1568569290
NM_001127221.1(CACNA1A):c.832G>A (p.Ala278Thr)
NM_001127221.1(CACNA1A):c.833C>T (p.Ala278Val) rs1064796561
NM_001127221.1(CACNA1A):c.835C>T (p.Arg279Cys) rs1555773764
NM_001127221.1(CACNA1A):c.851G>T (p.Gly284Val) rs1555773757
NM_001127221.1(CACNA1A):c.860G>A (p.Cys287Tyr) rs121908236
NM_001127221.1(CACNA1A):c.864G>A (p.Gln288=) rs770448965
NM_001127221.1(CACNA1A):c.876A>G (p.Glu292=) rs16006
NM_001127221.1(CACNA1A):c.877G>A (p.Gly293Arg) rs121908215
NM_001127221.1(CACNA1A):c.888C>T (p.Asn296=) rs372812865
NM_001127221.1(CACNA1A):c.889G>A (p.Gly297Arg) rs1168625480
NM_001127221.1(CACNA1A):c.903C>T (p.Phe301=) rs17846910
NM_001127221.1(CACNA1A):c.904G>A (p.Asp302Asn) rs863224852
NM_001127221.1(CACNA1A):c.928_931del (p.Thr310fs)
NM_001127221.1(CACNA1A):c.978+9T>C rs111366222
NM_001127221.1(CACNA1A):c.979-243A>G
NM_001127221.1(CACNA1A):c.990C>G (p.Ala330=) rs1555767932
NM_001127221.1(CACNA1A):c.992C>G (p.Ser331Ter) rs1555767930

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