ClinVar Miner

List of variants in gene CACNA1A reported by Athena Diagnostics Inc

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 318
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.1182= (p.Glu394=) rs2248069 0.35990
NM_001127222.2(CACNA1A):c.3861T>C (p.Phe1287=) rs16030 0.17482
NM_001127222.2(CACNA1A):c.3057G>A (p.Arg1019=) rs16025 0.14118
NM_001127222.2(CACNA1A):c.2975A>T (p.Glu992Val) rs16023 0.13336
NM_001127222.2(CACNA1A):c.2091G>A (p.Thr697=) rs16016 0.11927
NM_001127222.2(CACNA1A):c.2751G>C (p.Glu917Asp) rs16022 0.11855
NM_001127222.2(CACNA1A):c.876A>G (p.Glu292=) rs16006 0.08064
NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser) rs16027 0.07737
NM_001127222.2(CACNA1A):c.7365C>A (p.Pro2455=) rs16057 0.04042
NM_001127222.2(CACNA1A):c.3028C>G (p.Pro1010Ala) rs28413664 0.02366
NM_001127222.2(CACNA1A):c.6378C>T (p.Ser2126=) rs16050 0.02098
NM_001127222.2(CACNA1A):c.3546C>T (p.Val1182=) rs16029 0.01749
NM_001127222.2(CACNA1A):c.5739C>T (p.Ala1913=) rs16044 0.01420
NM_001127222.2(CACNA1A):c.579G>A (p.Thr193=) rs41276894 0.01215
NM_001127222.2(CACNA1A):c.2192A>C (p.Glu731Ala) rs16019 0.01053
NM_001127222.2(CACNA1A):c.6126G>A (p.Thr2042=) rs7249722 0.00766
NM_001127222.2(CACNA1A):c.7431C>T (p.Tyr2477=) rs16059 0.00712
NM_001127222.2(CACNA1A):c.462C>T (p.Ala154=) rs1800039 0.00699
NM_001127222.2(CACNA1A):c.2826C>T (p.Ser942=) rs181024112 0.00646
NM_001127222.2(CACNA1A):c.2737C>T (p.Pro913Ser) rs16020 0.00616
NM_001127222.2(CACNA1A):c.3237C>T (p.Ala1079=) rs16026 0.00616
NM_001127222.2(CACNA1A):c.6342C>G (p.Thr2114=) rs16049 0.00467
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr) rs41276886 0.00451
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys) rs16024 0.00390
NM_001127222.2(CACNA1A):c.2130C>G (p.Ala710=) rs16017 0.00329
NM_001127222.2(CACNA1A):c.1698C>T (p.Ile566=) rs190603219 0.00314
NM_001127222.2(CACNA1A):c.2678G>A (p.Arg893Gln) rs374664760 0.00262
NM_001127222.2(CACNA1A):c.1345+7C>T rs192536793 0.00213
NM_001127222.2(CACNA1A):c.4632C>T (p.Thr1544=) rs150378053 0.00188
NM_001127222.2(CACNA1A):c.1614C>T (p.Tyr538=) rs182505786 0.00153
NM_001127222.2(CACNA1A):c.1623G>A (p.Gly541=) rs375628894 0.00131
NM_001127222.2(CACNA1A):c.1518T>C (p.Val506=) rs16009 0.00114
NM_001127222.2(CACNA1A):c.1914-4G>A rs191026552 0.00108
NM_001127222.2(CACNA1A):c.2687C>G (p.Pro896Arg) rs121908242 0.00091
NM_001127222.2(CACNA1A):c.5650G>A (p.Val1884Ile) rs201836062 0.00070
NM_001127222.2(CACNA1A):c.4644G>A (p.Pro1548=) rs199854716 0.00060
NM_001127222.2(CACNA1A):c.3309C>T (p.Pro1103=) rs374749004 0.00057
NM_001127222.2(CACNA1A):c.3409C>G (p.Pro1137Ala) rs199793367 0.00057
NM_001127222.2(CACNA1A):c.2823G>A (p.Glu941=) rs374511141 0.00045
NM_001127222.2(CACNA1A):c.5732-6T>C rs16043 0.00041
NM_001127222.2(CACNA1A):c.5897G>A (p.Arg1966Gln) rs199886234 0.00039
NM_001127222.2(CACNA1A):c.1572T>A (p.Ile524=) rs16010 0.00030
NM_001127222.2(CACNA1A):c.7274G>A (p.Gly2425Asp) rs555362569 0.00029
NM_001127222.2(CACNA1A):c.1905C>T (p.Phe635=) rs115452236 0.00026
NM_001127222.2(CACNA1A):c.888C>T (p.Asn296=) rs372812865 0.00026
NM_001127222.2(CACNA1A):c.62C>T (p.Ala21Val) rs15999 0.00025
NM_001127222.2(CACNA1A):c.3227C>T (p.Ala1076Val) rs199512932 0.00024
NM_001127222.2(CACNA1A):c.7291G>A (p.Ala2431Thr) rs1052515747 0.00024
NM_001127222.2(CACNA1A):c.4311G>A (p.Lys1437=) rs572036869 0.00023
NM_001127222.2(CACNA1A):c.1395G>A (p.Ser465=) rs374307014 0.00022
NM_001127222.2(CACNA1A):c.6505C>T (p.Arg2169Cys) rs375354077 0.00022
NM_001127222.2(CACNA1A):c.3822C>T (p.Asn1274=) rs201230929 0.00021
NM_001127222.2(CACNA1A):c.7189G>A (p.Val2397Met) rs768129470 0.00020
NM_001127222.2(CACNA1A):c.1781+7C>A rs202005119 0.00019
NM_001127222.2(CACNA1A):c.1995G>A (p.Thr665=) rs376641545 0.00019
NM_001127222.2(CACNA1A):c.2955G>C (p.Pro985=) rs749357610 0.00019
NM_001127222.2(CACNA1A):c.6339+10G>C rs376238265 0.00019
NM_001127222.2(CACNA1A):c.784+10C>T rs781363787 0.00018
NM_001127222.2(CACNA1A):c.6494G>A (p.Arg2165His) rs727503832 0.00017
NM_001127222.2(CACNA1A):c.7050C>T (p.Ala2350=) rs932173199 0.00017
NM_001127222.2(CACNA1A):c.7327G>A (p.Ala2443Thr) rs533884784 0.00017
NM_001127222.2(CACNA1A):c.1983T>C (p.Phe661=) rs368033271 0.00016
NM_001127222.2(CACNA1A):c.3384G>A (p.Pro1128=) rs370541345 0.00016
NM_001127222.2(CACNA1A):c.4410C>T (p.Asp1470=) rs374555263 0.00016
NM_001127222.2(CACNA1A):c.5170G>A (p.Asp1724Asn) rs371595464 0.00016
NM_001127222.2(CACNA1A):c.1500G>A (p.Thr500=) rs373192672 0.00014
NM_001127222.2(CACNA1A):c.5840-7C>T rs372261381 0.00014
NM_001127222.2(CACNA1A):c.6483C>T (p.Arg2161=) rs745609731 0.00014
NM_001127222.2(CACNA1A):c.796G>A (p.Gly266Ser) rs17846908 0.00014
NM_001127222.2(CACNA1A):c.3043G>A (p.Gly1015Arg) rs190551509 0.00013
NM_001127222.2(CACNA1A):c.4388+8G>A rs376248243 0.00013
NM_001127222.2(CACNA1A):c.539+9C>T rs369146237 0.00013
NM_001127222.2(CACNA1A):c.7328C>T (p.Ala2443Val) rs763414737 0.00013
NM_001127222.2(CACNA1A):c.3618A>G (p.Glu1206=) rs201236364 0.00012
NM_001127222.2(CACNA1A):c.1782-6C>T rs201350764 0.00011
NM_001127222.2(CACNA1A):c.5859G>A (p.Gly1953=) rs200625174 0.00011
NM_001127222.2(CACNA1A):c.6468C>T (p.Arg2156=) rs745336852 0.00011
NM_001127222.2(CACNA1A):c.5134-4A>G rs200165596 0.00010
NM_001127222.2(CACNA1A):c.1225A>C (p.Thr409Pro) rs187259531 0.00009
NM_001127222.2(CACNA1A):c.2046C>T (p.Gly682=) rs535077726 0.00009
NM_001127222.2(CACNA1A):c.2104+6C>T rs372970603 0.00009
NM_001127222.2(CACNA1A):c.2867G>T (p.Arg956Leu) rs551380805 0.00009
NM_001127222.2(CACNA1A):c.3544G>A (p.Val1182Ile) rs369742607 0.00009
NM_001127222.2(CACNA1A):c.3564C>T (p.Asn1188=) rs200209920 0.00009
NM_001127222.2(CACNA1A):c.6044G>A (p.Gly2015Glu) rs772988279 0.00009
NM_001127222.2(CACNA1A):c.1368C>T (p.Ser456=) rs377458008 0.00008
NM_001127222.2(CACNA1A):c.5401-10G>A rs370129945 0.00008
NM_001127222.2(CACNA1A):c.5394G>A (p.Ser1798=) rs201681631 0.00007
NM_001127222.2(CACNA1A):c.2501A>C (p.Asn834Thr) rs201666606 0.00006
NM_001127222.2(CACNA1A):c.2812G>C (p.Gly938Arg) rs771423362 0.00006
NM_001127222.2(CACNA1A):c.2940C>G (p.Arg980=) rs1188340576 0.00006
NM_001127222.2(CACNA1A):c.3649A>G (p.Met1217Val) rs372017604 0.00006
NM_001127222.2(CACNA1A):c.5740G>A (p.Asp1914Asn) rs371957992 0.00006
NM_001127222.2(CACNA1A):c.6067G>A (p.Gly2023Ser) rs574805525 0.00006
NM_001127222.2(CACNA1A):c.6077A>G (p.Glu2026Gly) rs771768635 0.00006
NM_001127222.2(CACNA1A):c.6190-3C>A rs368480650 0.00006
NM_001127222.2(CACNA1A):c.6266G>A (p.Arg2089Gln) rs1033214914 0.00006
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys) rs121908235 0.00006
NM_001127222.2(CACNA1A):c.1199-9C>T rs529977616 0.00005
NM_001127222.2(CACNA1A):c.4591-9C>G rs16032 0.00005
NM_001127222.2(CACNA1A):c.5268T>C (p.Ala1756=) rs373678557 0.00005
NM_001127222.2(CACNA1A):c.561G>A (p.Thr187=) rs777316026 0.00005
NM_001127222.2(CACNA1A):c.1306G>A (p.Glu436Lys) rs759782636 0.00004
NM_001127222.2(CACNA1A):c.1361G>A (p.Arg454Gln) rs561858384 0.00004
NM_001127222.2(CACNA1A):c.2712C>T (p.His904=) rs759320715 0.00004
NM_001127222.2(CACNA1A):c.3175C>T (p.Pro1059Ser) rs775079932 0.00004
NM_001127222.2(CACNA1A):c.3226G>A (p.Ala1076Thr) rs554091859 0.00004
NM_001127222.2(CACNA1A):c.3621C>T (p.Asp1207=) rs368211900 0.00004
NM_001127222.2(CACNA1A):c.687C>T (p.Ile229=) rs544057763 0.00004
NM_001127222.2(CACNA1A):c.7306G>A (p.Ala2436Thr) rs754573556 0.00004
NM_001127222.2(CACNA1A):c.784+9A>G rs746215285 0.00004
NM_001127222.2(CACNA1A):c.1534G>A (p.Glu512Lys) rs375210532 0.00003
NM_001127222.2(CACNA1A):c.549G>A (p.Ala183=) rs16004 0.00003
NM_001127222.2(CACNA1A):c.5580G>A (p.Pro1860=) rs144137960 0.00003
NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met) rs563345694 0.00003
NM_001127222.2(CACNA1A):c.6192C>T (p.Ser2064=) rs974692135 0.00003
NM_001127222.2(CACNA1A):c.6193G>A (p.Val2065Met) rs776203885 0.00003
NM_001127222.2(CACNA1A):c.654G>A (p.Ser218=) rs201991581 0.00003
NM_001127222.2(CACNA1A):c.699A>G (p.Leu233=) rs749587119 0.00003
NM_001127222.2(CACNA1A):c.7052G>A (p.Gly2351Glu) rs1442777428 0.00003
NM_001127222.2(CACNA1A):c.1142G>A (p.Arg381Gln) rs772354342 0.00002
NM_001127222.2(CACNA1A):c.1356C>T (p.Phe452=) rs41276888 0.00002
NM_001127222.2(CACNA1A):c.2729T>G (p.Leu910Arg) rs953766694 0.00002
NM_001127222.2(CACNA1A):c.2890C>T (p.Pro964Ser) rs1383144531 0.00002
NM_001127222.2(CACNA1A):c.3228G>A (p.Ala1076=) rs373678395 0.00002
NM_001127222.2(CACNA1A):c.3420C>T (p.Pro1140=) rs542849275 0.00002
NM_001127222.2(CACNA1A):c.3421G>A (p.Glu1141Lys) rs780535727 0.00002
NM_001127222.2(CACNA1A):c.3436G>A (p.Val1146Ile) rs376365775 0.00002
NM_001127222.2(CACNA1A):c.5157C>T (p.Asp1719=) rs758409135 0.00002
NM_001127222.2(CACNA1A):c.5158G>A (p.Val1720Met) rs537982877 0.00002
NM_001127222.2(CACNA1A):c.5166C>T (p.Asp1722=) rs200501726 0.00002
NM_001127222.2(CACNA1A):c.5508C>T (p.Ala1836=) rs750338421 0.00002
NM_001127222.2(CACNA1A):c.5986A>G (p.Thr1996Ala) rs141963371 0.00002
NM_001127222.2(CACNA1A):c.6013G>A (p.Ala2005Thr) rs374063403 0.00002
NM_001127222.2(CACNA1A):c.6220G>A (p.Gly2074Ser) rs376910068 0.00002
NM_001127222.2(CACNA1A):c.6340-7C>A rs765609971 0.00002
NM_001127222.2(CACNA1A):c.6464G>T (p.Arg2155Leu) rs572722130 0.00002
NM_001127222.2(CACNA1A):c.6467G>A (p.Arg2156His) rs755749925 0.00002
NM_001127222.2(CACNA1A):c.1327G>A (p.Ala443Thr) rs866479368 0.00001
NM_001127222.2(CACNA1A):c.1329T>C (p.Ala443=) rs2058444317 0.00001
NM_001127222.2(CACNA1A):c.1427G>A (p.Arg476His) rs755107633 0.00001
NM_001127222.2(CACNA1A):c.1499C>T (p.Thr500Met) rs121908240 0.00001
NM_001127222.2(CACNA1A):c.1546G>A (p.Asp516Asn) rs185034915 0.00001
NM_001127222.2(CACNA1A):c.2105-2A>G rs906086634 0.00001
NM_001127222.2(CACNA1A):c.2265C>T (p.Asn755=) rs1382705855 0.00001
NM_001127222.2(CACNA1A):c.2391G>A (p.Met797Ile) rs370746809 0.00001
NM_001127222.2(CACNA1A):c.2707C>T (p.His903Tyr) rs765300713 0.00001
NM_001127222.2(CACNA1A):c.2759C>G (p.Ala920Gly) rs538079885 0.00001
NM_001127222.2(CACNA1A):c.2774C>T (p.Ala925Val) rs765345767 0.00001
NM_001127222.2(CACNA1A):c.2811G>T (p.Gly937=) rs1322679497 0.00001
NM_001127222.2(CACNA1A):c.2833G>A (p.Gly945Arg) rs527593196 0.00001
NM_001127222.2(CACNA1A):c.2882A>C (p.His961Pro) rs1316264115 0.00001
NM_001127222.2(CACNA1A):c.294-4A>G rs1400044284 0.00001
NM_001127222.2(CACNA1A):c.3071G>A (p.Arg1024Gln) rs1458500776 0.00001
NM_001127222.2(CACNA1A):c.3167G>A (p.Arg1056His) rs200850308 0.00001
NM_001127222.2(CACNA1A):c.3364C>T (p.Arg1122Cys) rs774407963 0.00001
NM_001127222.2(CACNA1A):c.3371C>T (p.Thr1124Met) rs374720207 0.00001
NM_001127222.2(CACNA1A):c.3377A>G (p.Asn1126Ser) rs755440575 0.00001
NM_001127222.2(CACNA1A):c.3383C>T (p.Pro1128Leu) rs754208553 0.00001
NM_001127222.2(CACNA1A):c.4693C>T (p.Pro1565Ser) rs1353824164 0.00001
NM_001127222.2(CACNA1A):c.4786G>A (p.Ala1596Thr) rs769043258 0.00001
NM_001127222.2(CACNA1A):c.4807G>A (p.Val1603Ile) rs943715197 0.00001
NM_001127222.2(CACNA1A):c.5032C>T (p.Arg1678Cys) rs121908243 0.00001
NM_001127222.2(CACNA1A):c.5316G>A (p.Lys1772=) rs886043622 0.00001
NM_001127222.2(CACNA1A):c.5336G>A (p.Arg1779Gln) rs267605294 0.00001
NM_001127222.2(CACNA1A):c.578C>T (p.Thr193Met) rs1365721398 0.00001
NM_001127222.2(CACNA1A):c.5839+10G>A rs371733571 0.00001
NM_001127222.2(CACNA1A):c.6055G>T (p.Ala2019Ser) rs1393616835 0.00001
NM_001127222.2(CACNA1A):c.632-8C>T rs762951690 0.00001
NM_001127222.2(CACNA1A):c.6431C>T (p.Pro2144Leu) rs750077868 0.00001
NM_001127222.2(CACNA1A):c.6458A>G (p.Gln2153Arg) rs1242460645 0.00001
NM_001127222.2(CACNA1A):c.6469G>A (p.Asp2157Asn) rs1042634748 0.00001
NM_001127222.2(CACNA1A):c.7197G>C (p.Glu2399Asp) rs973900517 0.00001
NM_001127222.2(CACNA1A):c.7368G>A (p.Arg2456=) rs987406696 0.00001
NM_001127222.2(CACNA1A):c.7409G>A (p.Arg2470Gln) rs754738036 0.00001
NM_001127222.2(CACNA1A):c.7512T>C (p.Asp2504=) rs1296592145 0.00001
NM_000068.4(CACNA1A):c.4970_4987del
NM_001127222.2(CACNA1A):c.104del (p.Gly35fs) rs1568720031
NM_001127222.2(CACNA1A):c.1198+1G>A rs1057518513
NM_001127222.2(CACNA1A):c.1267A>T (p.Thr423Ser) rs1555766588
NM_001127222.2(CACNA1A):c.1360C>T (p.Arg454Ter) rs886039668
NM_001127222.2(CACNA1A):c.1500_1521del (p.Leu501fs) rs1555762855
NM_001127222.2(CACNA1A):c.1504T>C (p.Cys502Arg)
NM_001127222.2(CACNA1A):c.1534G>C (p.Glu512Gln) rs375210532
NM_001127222.2(CACNA1A):c.1555+5G>A
NM_001127222.2(CACNA1A):c.1556A>C (p.Tyr519Ser)
NM_001127222.2(CACNA1A):c.1668+7G>A rs567507041
NM_001127222.2(CACNA1A):c.1669G>T (p.Val557Phe) rs1568519134
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln) rs121908217
NM_001127222.2(CACNA1A):c.1763G>A (p.Arg588His)
NM_001127222.2(CACNA1A):c.1781del (p.Lys594fs) rs1600293149
NM_001127222.2(CACNA1A):c.1785C>G (p.Tyr595Ter) rs2057948502
NM_001127222.2(CACNA1A):c.18C>T (p.Asp6=)
NM_001127222.2(CACNA1A):c.1906G>C (p.Gly636Arg) rs943419160
NM_001127222.2(CACNA1A):c.1931G>A (p.Gly644Glu)
NM_001127222.2(CACNA1A):c.1987-9C>A rs747420630
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met) rs121908212
NM_001127222.2(CACNA1A):c.2006G>A (p.Trp669Ter) rs1555757537
NM_001127222.2(CACNA1A):c.2026G>A (p.Gly676Arg) rs2144980758
NM_001127222.2(CACNA1A):c.2039_2040del (p.Gln680fs) rs1064794262
NM_001127222.2(CACNA1A):c.2088G>A (p.Leu696=) rs908321451
NM_001127222.2(CACNA1A):c.2280-5T>A rs1555756483
NM_001127222.2(CACNA1A):c.2362G>A (p.Ala788Thr) rs1568509752
NM_001127222.2(CACNA1A):c.2505C>T (p.Thr835=) rs1246254915
NM_001127222.2(CACNA1A):c.2518_2529delinsCGG (p.Ala840_Pro843delinsArg) rs2144956802
NM_001127222.2(CACNA1A):c.2557_2586delinsGT (p.Arg853fs)
NM_001127222.2(CACNA1A):c.2611C>T (p.Pro871Ser) rs780462531
NM_001127222.2(CACNA1A):c.2692G>C (p.Gly898Arg) rs751726770
NM_001127222.2(CACNA1A):c.2723_2738delinsTG (p.Gly908fs)
NM_001127222.2(CACNA1A):c.2726G>A (p.Ser909Asn) rs1248444650
NM_001127222.2(CACNA1A):c.2734C>T (p.Gln912Ter) rs1555756161
NM_001127222.2(CACNA1A):c.2737_2739delinsTCT (p.Pro913Ser) rs886043758
NM_001127222.2(CACNA1A):c.2739C>T (p.Pro913=) rs16021
NM_001127222.2(CACNA1A):c.2857G>A (p.Gly953Arg) rs1057518292
NM_001127222.2(CACNA1A):c.2896del (p.Glu966fs)
NM_001127222.2(CACNA1A):c.2931G>C (p.Ala977=)
NM_001127222.2(CACNA1A):c.2955_2958dup (p.Arg987fs)
NM_001127222.2(CACNA1A):c.2968GAGGGC[2] (p.990EG[2]) rs764399373
NM_001127222.2(CACNA1A):c.2968GAGGGC[4] (p.990EG[4]) rs764399373
NM_001127222.2(CACNA1A):c.2989G>A (p.Asp997Asn) rs2057721376
NM_001127222.2(CACNA1A):c.2996dup (p.Glu1000fs) rs2057721188
NM_001127222.2(CACNA1A):c.3002G>T (p.Arg1001Leu) rs1424294725
NM_001127222.2(CACNA1A):c.302A>C (p.Glu101Ala) rs2060985088
NM_001127222.2(CACNA1A):c.3079C>T (p.Arg1027Trp)
NM_001127222.2(CACNA1A):c.3109G>A (p.Val1037Ile) rs769061598
NM_001127222.2(CACNA1A):c.3129C>A (p.Asn1043Lys) rs1187232740
NM_001127222.2(CACNA1A):c.3190G>A (p.Asp1064Asn)
NM_001127222.2(CACNA1A):c.3215del (p.Lys1072fs) rs1555753042
NM_001127222.2(CACNA1A):c.3261_3316del (p.Leu1090fs) rs1555752975
NM_001127222.2(CACNA1A):c.3265G>T (p.Gly1089Cys) rs201311000
NM_001127222.2(CACNA1A):c.3302C>T (p.Thr1101Ile) rs768567834
NM_001127222.2(CACNA1A):c.3410C>G (p.Pro1137Arg) rs200333359
NM_001127222.2(CACNA1A):c.3469G>C (p.Ala1157Pro)
NM_001127222.2(CACNA1A):c.3531C>A (p.Pro1177=) rs184723350
NM_001127222.2(CACNA1A):c.3531C>G (p.Pro1177=) rs184723350
NM_001127222.2(CACNA1A):c.3532C>A (p.Leu1178Ile) rs556266465
NM_001127222.2(CACNA1A):c.3532C>T (p.Leu1178Phe) rs556266465
NM_001127222.2(CACNA1A):c.3535A>C (p.Asn1179His) rs964526144
NM_001127222.2(CACNA1A):c.3553+5G>C rs1600245165
NM_001127222.2(CACNA1A):c.3601AAG[1] (p.Lys1202del) rs772989979
NM_001127222.2(CACNA1A):c.3606GGA[3] (p.Glu1206del) rs750826355
NM_001127222.2(CACNA1A):c.3692+1G>A rs1315533129
NM_001127222.2(CACNA1A):c.3694dup (p.Leu1232fs) rs1568493323
NM_001127222.2(CACNA1A):c.3848T>C (p.Phe1283Ser) rs2057169274
NM_001127222.2(CACNA1A):c.399+1G>C rs2060983144
NM_001127222.2(CACNA1A):c.4028C>T (p.Ser1343Phe)
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.4043G>A (p.Arg1348Gln) rs1057520918
NM_001127222.2(CACNA1A):c.4051C>T (p.Arg1351Ter) rs1568473171
NM_001127222.2(CACNA1A):c.4072C>T (p.Arg1358Trp) rs1555745461
NM_001127222.2(CACNA1A):c.4089+5_4089+6del rs368911651
NM_001127222.2(CACNA1A):c.41del (p.Gly14fs) rs1555797179
NM_001127222.2(CACNA1A):c.4251-7G>A rs761136437
NM_001127222.2(CACNA1A):c.4298G>A (p.Arg1433Gln) rs2144758462
NM_001127222.2(CACNA1A):c.439G>A (p.Glu147Lys) rs1568659847
NM_001127222.2(CACNA1A):c.4448G>T (p.Arg1483Leu) rs1271930393
NM_001127222.2(CACNA1A):c.4574G>A (p.Ser1525Asn) rs2056600119
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.4867-7dup rs2056196193
NM_001127222.2(CACNA1A):c.4874T>G (p.Phe1625Cys) rs771061659
NM_001127222.2(CACNA1A):c.4950+3662G>T rs1600152215
NM_001127222.2(CACNA1A):c.4950+3668C>T
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His) rs121908216
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>A (p.Arg1666Gln) rs1568447650
NM_001127222.2(CACNA1A):c.5053G>A (p.Val1685Met) rs1442400930
NM_001127222.2(CACNA1A):c.507G>A (p.Trp169Ter) rs2144936148
NM_001127222.2(CACNA1A):c.5125G>A (p.Gly1709Arg) rs1555738200
NM_001127222.2(CACNA1A):c.5141G>A (p.Gly1714Asp)
NM_001127222.2(CACNA1A):c.5162A>G (p.Glu1721Gly) rs1273682125
NM_001127222.2(CACNA1A):c.5165A>G (p.Asp1722Gly)
NM_001127222.2(CACNA1A):c.5209A>T (p.Asn1737Tyr) rs2144646664
NM_001127222.2(CACNA1A):c.5248C>T (p.Arg1750Trp) rs1568446845
NM_001127222.2(CACNA1A):c.5249G>A (p.Arg1750Gln) rs781588570
NM_001127222.2(CACNA1A):c.5401-9T>A
NM_001127222.2(CACNA1A):c.5464A>G (p.Ile1822Val) rs1600127153
NM_001127222.2(CACNA1A):c.5529-1231C>T rs1296262946
NM_001127222.2(CACNA1A):c.5530G>A (p.Gly1844Ser) rs1568439088
NM_001127222.2(CACNA1A):c.5552T>C (p.Met1851Thr)
NM_001127222.2(CACNA1A):c.5761G>A (p.Glu1921Lys) rs2144537759
NM_001127222.2(CACNA1A):c.5827A>G (p.Thr1943Ala) rs2144537372
NM_001127222.2(CACNA1A):c.592C>G (p.Arg198Gly) rs886042230
NM_001127222.2(CACNA1A):c.592C>T (p.Arg198Ter) rs886042230
NM_001127222.2(CACNA1A):c.593G>A (p.Arg198Gln) rs797045424
NM_001127222.2(CACNA1A):c.5988G>A (p.Thr1996=) rs17846933
NM_001127222.2(CACNA1A):c.6028C>T (p.Gln2010Ter) rs1355062450
NM_001127222.2(CACNA1A):c.6210G>A (p.Met2070Ile) rs1555731738
NM_001127222.2(CACNA1A):c.622G>A (p.Gly208Arg) rs1568581246
NM_001127222.2(CACNA1A):c.6265C>A (p.Arg2089=) rs200093958
NM_001127222.2(CACNA1A):c.631+4C>T rs1568581241
NM_001127222.2(CACNA1A):c.631+5G>A rs786200963
NM_001127222.2(CACNA1A):c.6408_6409insTAGCCTG (p.Asp2137Ter) rs2054719760
NM_001127222.2(CACNA1A):c.643G>A (p.Val215Ile) rs1555774867
NM_001127222.2(CACNA1A):c.6514G>T (p.Asp2172Tyr) rs370289732
NM_001127222.2(CACNA1A):c.654G>C (p.Ser218=) rs201991581
NM_001127222.2(CACNA1A):c.7061C>T (p.Pro2354Leu) rs1421650967
NM_001127222.2(CACNA1A):c.7210C>G (p.Pro2404Ala)
NM_001127222.2(CACNA1A):c.7240G>A (p.Asp2414Asn) rs1568416040
NM_001127222.2(CACNA1A):c.7282G>A (p.Glu2428Lys)
NM_001127222.2(CACNA1A):c.7318G>A (p.Val2440Ile)
NM_001127222.2(CACNA1A):c.7318_7332dup (p.Ser2444_Ser2445insValArgHisAlaSer)
NM_001127222.2(CACNA1A):c.7322G>A (p.Arg2441Gln)
NM_001127222.2(CACNA1A):c.7347G>A (p.Gly2449=)
NM_001127222.2(CACNA1A):c.7348C>T (p.Arg2450Cys) rs1397153104
NM_001127222.2(CACNA1A):c.7426T>C (p.Tyr2476His) rs779631503
NM_001127222.2(CACNA1A):c.7433C>T (p.Pro2478Leu)
NM_001127222.2(CACNA1A):c.7436C>G (p.Ala2479Gly) rs758817759
NM_001127222.2(CACNA1A):c.7440C>G (p.His2480Gln) rs539546830
NM_001127222.2(CACNA1A):c.75G>T (p.Val25=)
NM_001127222.2(CACNA1A):c.811C>G (p.Pro271Ala)
NM_001127222.2(CACNA1A):c.832G>A (p.Ala278Thr) rs1013100046
NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys) rs1555773764
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.967CTC[1] (p.Leu324del)

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