ClinVar Miner

List of variants in gene CACNA1A reported as uncertain significance by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 908
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.6656A>C (p.His2219Pro) rs772789381 0.00055
NM_001127222.2(CACNA1A):c.3822C>T (p.Asn1274=) rs201230929 0.00021
NM_001127222.2(CACNA1A):c.2104+6C>T rs372970603 0.00009
NM_001127222.2(CACNA1A):c.6044G>A (p.Gly2015Glu) rs772988279 0.00009
NM_001127222.2(CACNA1A):c.6527G>T (p.Gly2176Val) rs763045560 0.00008
NM_001127222.2(CACNA1A):c.2257G>A (p.Ala753Thr) rs17846944 0.00007
NM_001127222.2(CACNA1A):c.3048C>G (p.Asp1016Glu) rs773821155 0.00007
NM_001127222.2(CACNA1A):c.6190-3C>A rs368480650 0.00006
NM_001127222.2(CACNA1A):c.1306G>A (p.Glu436Lys) rs759782636 0.00004
NM_001127222.2(CACNA1A):c.1627C>T (p.Arg543Trp) rs1349147232 0.00004
NM_001127222.2(CACNA1A):c.2982_2987dup (p.Gly995_Pro996dup) rs995883431 0.00004
NM_001127222.2(CACNA1A):c.4292G>A (p.Arg1431Gln) rs369440853 0.00004
NM_001127222.2(CACNA1A):c.4879G>A (p.Asp1627Asn) rs573209959 0.00004
NM_001127222.2(CACNA1A):c.5095G>A (p.Ala1699Thr) rs371273055 0.00004
NM_001127222.2(CACNA1A):c.5401-3C>T rs375947967 0.00004
NM_001127222.2(CACNA1A):c.6572C>T (p.Pro2191Leu) rs377294817 0.00004
NM_001127222.2(CACNA1A):c.6601C>T (p.Arg2201Trp) rs1032588483 0.00004
NM_001127222.2(CACNA1A):c.2263A>G (p.Asn755Asp) rs762466161 0.00003
NM_001127222.2(CACNA1A):c.3533T>A (p.Leu1178His) rs761259850 0.00003
NM_001127222.2(CACNA1A):c.35A>G (p.Tyr12Cys) rs994265107 0.00003
NM_001127222.2(CACNA1A):c.3784G>A (p.Ala1262Thr) rs776503550 0.00003
NM_001127222.2(CACNA1A):c.4411G>A (p.Ala1471Thr) rs1187916307 0.00003
NM_001127222.2(CACNA1A):c.4609G>A (p.Ala1537Thr) rs773209223 0.00003
NM_001127222.2(CACNA1A):c.5400+3G>A rs1034627495 0.00003
NM_001127222.2(CACNA1A):c.5453G>A (p.Arg1818Gln) rs745900417 0.00003
NM_001127222.2(CACNA1A):c.5932G>A (p.Glu1978Lys) rs1266642291 0.00003
NM_001127222.2(CACNA1A):c.6083C>G (p.Pro2028Arg) rs370345937 0.00003
NM_001127222.2(CACNA1A):c.6193G>A (p.Val2065Met) rs776203885 0.00003
NM_001127222.2(CACNA1A):c.6614G>A (p.Arg2205Gln) rs756685971 0.00003
NM_001127222.2(CACNA1A):c.6644A>C (p.His2215Pro) rs1233829101 0.00003
NM_001127222.2(CACNA1A):c.6669C>A (p.Pro2223=) rs2304094 0.00003
NM_001127222.2(CACNA1A):c.745A>G (p.Met249Val) rs1005732031 0.00003
NM_001127222.2(CACNA1A):c.1142G>A (p.Arg381Gln) rs772354342 0.00002
NM_001127222.2(CACNA1A):c.1394C>T (p.Ser465Leu) rs544363291 0.00002
NM_001127222.2(CACNA1A):c.1438C>T (p.Arg480Cys) rs1189054127 0.00002
NM_001127222.2(CACNA1A):c.29C>T (p.Ala10Val) rs952757731 0.00002
NM_001127222.2(CACNA1A):c.3142C>T (p.Arg1048Trp) rs753402026 0.00002
NM_001127222.2(CACNA1A):c.3526C>T (p.Pro1176Ser) rs1458640910 0.00002
NM_001127222.2(CACNA1A):c.4089+3G>A rs781595676 0.00002
NM_001127222.2(CACNA1A):c.5521G>A (p.Ala1841Thr) rs753229469 0.00002
NM_001127222.2(CACNA1A):c.5529-1267G>A rs141565870 0.00002
NM_001127222.2(CACNA1A):c.5758G>A (p.Ala1920Thr) rs766012999 0.00002
NM_001127222.2(CACNA1A):c.6220G>A (p.Gly2074Ser) rs376910068 0.00002
NM_001127222.2(CACNA1A):c.6234C>T (p.Ser2078=) rs758320697 0.00002
NM_001127222.2(CACNA1A):c.632G>A (p.Ser211Asn) rs1085307866 0.00002
NM_001127222.2(CACNA1A):c.6331A>G (p.Asn2111Asp) rs1162464868 0.00002
NM_001127222.2(CACNA1A):c.6460C>T (p.Arg2154Trp) rs1374160355 0.00002
NM_001127222.2(CACNA1A):c.6506G>A (p.Arg2169His) rs1417890059 0.00002
NM_001127222.2(CACNA1A):c.6550A>G (p.Thr2184Ala) rs1028538547 0.00002
NM_001127222.2(CACNA1A):c.6610G>A (p.Asp2204Asn) rs747673128 0.00002
NM_001127222.2(CACNA1A):c.6646C>T (p.His2216Tyr) rs760470308 0.00002
NM_001127222.2(CACNA1A):c.6653A>C (p.His2218Pro) rs1353109044 0.00002
NM_001127222.2(CACNA1A):c.1141C>T (p.Arg381Trp) rs773593740 0.00001
NM_001127222.2(CACNA1A):c.1169A>G (p.Asn390Ser) rs1064795477 0.00001
NM_001127222.2(CACNA1A):c.1171G>A (p.Gly391Arg) rs749309558 0.00001
NM_001127222.2(CACNA1A):c.1189T>G (p.Ser397Ala) rs745753973 0.00001
NM_001127222.2(CACNA1A):c.1213G>A (p.Ala405Thr) rs121908245 0.00001
NM_001127222.2(CACNA1A):c.1231G>A (p.Gly411Arg) rs1448345243 0.00001
NM_001127222.2(CACNA1A):c.1261C>T (p.Arg421Trp) rs1208991974 0.00001
NM_001127222.2(CACNA1A):c.1291G>A (p.Asp431Asn) rs1600346973 0.00001
NM_001127222.2(CACNA1A):c.1303C>T (p.Pro435Ser) rs1426869372 0.00001
NM_001127222.2(CACNA1A):c.1333A>G (p.Ile445Val) rs1188726884 0.00001
NM_001127222.2(CACNA1A):c.1377T>G (p.Ser459Arg) rs769335170 0.00001
NM_001127222.2(CACNA1A):c.1393T>G (p.Ser465Ala) rs1195950626 0.00001
NM_001127222.2(CACNA1A):c.1427G>A (p.Arg476His) rs755107633 0.00001
NM_001127222.2(CACNA1A):c.1439G>A (p.Arg480His) rs761827501 0.00001
NM_001127222.2(CACNA1A):c.1441C>T (p.Arg481Cys) rs377011125 0.00001
NM_001127222.2(CACNA1A):c.1559A>G (p.Tyr520Cys) rs886039322 0.00001
NM_001127222.2(CACNA1A):c.1611G>T (p.Met537Ile) rs752572390 0.00001
NM_001127222.2(CACNA1A):c.1676T>C (p.Ile559Thr) rs767207007 0.00001
NM_001127222.2(CACNA1A):c.1782-5G>A rs1085307739 0.00001
NM_001127222.2(CACNA1A):c.1782G>A (p.Lys594=) rs756972061 0.00001
NM_001127222.2(CACNA1A):c.1810G>A (p.Val604Ile) rs756562814 0.00001
NM_001127222.2(CACNA1A):c.1906G>A (p.Gly636Ser) rs943419160 0.00001
NM_001127222.2(CACNA1A):c.2062G>T (p.Val688Leu) rs762530372 0.00001
NM_001127222.2(CACNA1A):c.2072T>C (p.Ile691Thr) rs775081414 0.00001
NM_001127222.2(CACNA1A):c.2155G>A (p.Ala719Thr) rs1201483107 0.00001
NM_001127222.2(CACNA1A):c.2258C>T (p.Ala753Val) rs200355966 0.00001
NM_001127222.2(CACNA1A):c.2281A>G (p.Lys761Glu) rs1196111017 0.00001
NM_001127222.2(CACNA1A):c.2287C>A (p.Gln763Lys) rs2057741441 0.00001
NM_001127222.2(CACNA1A):c.2435G>A (p.Arg812Gln) rs953797733 0.00001
NM_001127222.2(CACNA1A):c.2490C>G (p.Asn830Lys) rs1248783281 0.00001
NM_001127222.2(CACNA1A):c.2491C>T (p.Arg831Cys) rs1464680327 0.00001
NM_001127222.2(CACNA1A):c.2521G>T (p.Ala841Ser) rs1057522204 0.00001
NM_001127222.2(CACNA1A):c.2606G>A (p.Arg869Gln) rs1057518589 0.00001
NM_001127222.2(CACNA1A):c.2612C>A (p.Pro871His) rs1178583020 0.00001
NM_001127222.2(CACNA1A):c.2620T>G (p.Ser874Ala) rs751675055 0.00001
NM_001127222.2(CACNA1A):c.2624C>T (p.Ala875Val) rs1309338929 0.00001
NM_001127222.2(CACNA1A):c.2638C>T (p.Arg880Trp) rs1408152396 0.00001
NM_001127222.2(CACNA1A):c.2669A>G (p.Glu890Gly) rs2057731758 0.00001
NM_001127222.2(CACNA1A):c.26C>T (p.Pro9Leu) rs1487101039 0.00001
NM_001127222.2(CACNA1A):c.2717G>A (p.Arg906Gln) rs776495488 0.00001
NM_001127222.2(CACNA1A):c.2774C>T (p.Ala925Val) rs765345767 0.00001
NM_001127222.2(CACNA1A):c.2797G>A (p.Val933Met) rs767187794 0.00001
NM_001127222.2(CACNA1A):c.2818A>G (p.Arg940Gly) rs778220824 0.00001
NM_001127222.2(CACNA1A):c.2827C>T (p.Arg943Cys) rs754979047 0.00001
NM_001127222.2(CACNA1A):c.2833G>A (p.Gly945Arg) rs527593196 0.00001
NM_001127222.2(CACNA1A):c.2842C>T (p.Arg948Cys) rs16978975 0.00001
NM_001127222.2(CACNA1A):c.2852C>T (p.Ala951Val) rs1442995931 0.00001
NM_001127222.2(CACNA1A):c.2882A>C (p.His961Pro) rs1316264115 0.00001
NM_001127222.2(CACNA1A):c.2884C>T (p.Arg962Cys) rs532842904 0.00001
NM_001127222.2(CACNA1A):c.2932C>T (p.Arg978Trp) rs1361244265 0.00001
NM_001127222.2(CACNA1A):c.294-4A>G rs1400044284 0.00001
NM_001127222.2(CACNA1A):c.2971G>A (p.Gly991Ser) rs2057722310 0.00001
NM_001127222.2(CACNA1A):c.2972G>T (p.Gly991Val) rs2057722221 0.00001
NM_001127222.2(CACNA1A):c.3002G>C (p.Arg1001Pro) rs1424294725 0.00001
NM_001127222.2(CACNA1A):c.3052C>T (p.Arg1018Trp) rs772611976 0.00001
NM_001127222.2(CACNA1A):c.3071G>A (p.Arg1024Gln) rs1458500776 0.00001
NM_001127222.2(CACNA1A):c.3170A>C (p.Gln1057Pro) rs1273138619 0.00001
NM_001127222.2(CACNA1A):c.3262G>A (p.Ala1088Thr) rs371820430 0.00001
NM_001127222.2(CACNA1A):c.3331G>T (p.Ala1111Ser) rs1215692574 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.337A>G (p.Ile113Val) rs746955115 0.00001
NM_001127222.2(CACNA1A):c.3479C>T (p.Ala1160Val) rs766027931 0.00001
NM_001127222.2(CACNA1A):c.3481A>G (p.Arg1161Gly) rs760265407 0.00001
NM_001127222.2(CACNA1A):c.3515C>G (p.Pro1172Arg) rs16028 0.00001
NM_001127222.2(CACNA1A):c.3542C>G (p.Thr1181Ser) rs1250790986 0.00001
NM_001127222.2(CACNA1A):c.3629G>A (p.Gly1210Glu) rs763558455 0.00001
NM_001127222.2(CACNA1A):c.3650T>A (p.Met1217Lys) rs761983146 0.00001
NM_001127222.2(CACNA1A):c.3656C>T (p.Pro1219Leu) rs573365997 0.00001
NM_001127222.2(CACNA1A):c.3715A>G (p.Ile1239Val) rs375903481 0.00001
NM_001127222.2(CACNA1A):c.37G>A (p.Gly13Arg) rs1202097056 0.00001
NM_001127222.2(CACNA1A):c.3803C>T (p.Pro1268Leu) rs1057522815 0.00001
NM_001127222.2(CACNA1A):c.3814C>T (p.Arg1272Trp) rs372970430 0.00001
NM_001127222.2(CACNA1A):c.3830G>A (p.Arg1277Gln) rs372344357 0.00001
NM_001127222.2(CACNA1A):c.399+3G>A rs1275496281 0.00001
NM_001127222.2(CACNA1A):c.4462A>T (p.Ile1488Phe) rs2056601798 0.00001
NM_001127222.2(CACNA1A):c.4474G>A (p.Val1492Ile) rs121908234 0.00001
NM_001127222.2(CACNA1A):c.4516G>T (p.Val1506Leu) rs1322080885 0.00001
NM_001127222.2(CACNA1A):c.458T>C (p.Ile153Thr) rs369134549 0.00001
NM_001127222.2(CACNA1A):c.4601T>C (p.Ile1534Thr) rs1004488897 0.00001
NM_001127222.2(CACNA1A):c.4618G>A (p.Ala1540Thr) rs761579946 0.00001
NM_001127222.2(CACNA1A):c.4670G>A (p.Arg1557His) rs755172189 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.4850T>C (p.Met1617Thr) rs1469756019 0.00001
NM_001127222.2(CACNA1A):c.4866+6T>A rs757178835 0.00001
NM_001127222.2(CACNA1A):c.4876C>T (p.Arg1626Cys) rs747020168 0.00001
NM_001127222.2(CACNA1A):c.4877G>A (p.Arg1626His) rs777769751 0.00001
NM_001127222.2(CACNA1A):c.4931T>C (p.Ile1644Thr) rs2056194193 0.00001
NM_001127222.2(CACNA1A):c.5134-3C>T rs576141199 0.00001
NM_001127222.2(CACNA1A):c.5174G>A (p.Ser1725Asn) rs766254024 0.00001
NM_001127222.2(CACNA1A):c.5200G>A (p.Glu1734Lys) rs1064795744 0.00001
NM_001127222.2(CACNA1A):c.536C>T (p.Thr179Met) rs773461333 0.00001
NM_001127222.2(CACNA1A):c.5529-1268C>T rs765557914 0.00001
NM_001127222.2(CACNA1A):c.5626-3T>C rs2055372579 0.00001
NM_001127222.2(CACNA1A):c.5635C>T (p.Arg1879Trp) rs746460335 0.00001
NM_001127222.2(CACNA1A):c.5734G>A (p.Gly1912Arg) rs966699696 0.00001
NM_001127222.2(CACNA1A):c.574C>T (p.Arg192Trp) rs1057518779 0.00001
NM_001127222.2(CACNA1A):c.578C>T (p.Thr193Met) rs1365721398 0.00001
NM_001127222.2(CACNA1A):c.5801C>G (p.Ser1934Cys) rs375365071 0.00001
NM_001127222.2(CACNA1A):c.5843C>T (p.Thr1948Met) rs748279762 0.00001
NM_001127222.2(CACNA1A):c.5854G>A (p.Val1952Met) rs749251058 0.00001
NM_001127222.2(CACNA1A):c.5966G>A (p.Arg1989His) rs1178337230 0.00001
NM_001127222.2(CACNA1A):c.5999G>C (p.Gly2000Ala) rs1303685302 0.00001
NM_001127222.2(CACNA1A):c.6005G>A (p.Gly2002Asp) rs1402384624 0.00001
NM_001127222.2(CACNA1A):c.6017T>G (p.Leu2006Arg) rs759624463 0.00001
NM_001127222.2(CACNA1A):c.6050T>C (p.Leu2017Pro) rs774375692 0.00001
NM_001127222.2(CACNA1A):c.6055G>T (p.Ala2019Ser) rs1393616835 0.00001
NM_001127222.2(CACNA1A):c.6128G>A (p.Gly2043Asp) rs765421252 0.00001
NM_001127222.2(CACNA1A):c.6190-8C>G rs762766173 0.00001
NM_001127222.2(CACNA1A):c.6211G>A (p.Gly2071Ser) rs370514102 0.00001
NM_001127222.2(CACNA1A):c.6217G>A (p.Asp2073Asn) rs1057524336 0.00001
NM_001127222.2(CACNA1A):c.6241T>C (p.Tyr2081His) rs1174830824 0.00001
NM_001127222.2(CACNA1A):c.6262G>A (p.Gly2088Ser) rs1259126760 0.00001
NM_001127222.2(CACNA1A):c.6281C>T (p.Pro2094Leu) rs769128653 0.00001
NM_001127222.2(CACNA1A):c.6304-3C>T rs1354563230 0.00001
NM_001127222.2(CACNA1A):c.6313G>A (p.Gly2105Ser) rs1376625416 0.00001
NM_001127222.2(CACNA1A):c.6326G>A (p.Gly2109Glu) rs868808043 0.00001
NM_001127222.2(CACNA1A):c.636A>G (p.Leu212=) rs765072424 0.00001
NM_001127222.2(CACNA1A):c.6401G>A (p.Arg2134His) rs749172043 0.00001
NM_001127222.2(CACNA1A):c.6436G>A (p.Glu2146Lys) rs371984902 0.00001
NM_001127222.2(CACNA1A):c.6444C>A (p.Asn2148Lys) rs780779363 0.00001
NM_001127222.2(CACNA1A):c.6456C>A (p.His2152Gln) rs759949928 0.00001
NM_001127222.2(CACNA1A):c.6458A>G (p.Gln2153Arg) rs1242460645 0.00001
NM_001127222.2(CACNA1A):c.6493C>T (p.Arg2165Cys) rs746582303 0.00001
NM_001127222.2(CACNA1A):c.6526+6C>T rs1366998583 0.00001
NM_001127222.2(CACNA1A):c.6532G>A (p.Gly2178Arg) rs953871050 0.00001
NM_001127222.2(CACNA1A):c.6549G>A (p.Met2183Ile) rs1335828021 0.00001
NM_001127222.2(CACNA1A):c.6562G>A (p.Gly2188Arg) rs965819293 0.00001
NM_001127222.2(CACNA1A):c.6595C>T (p.Arg2199Trp) rs1477386827 0.00001
NM_001127222.2(CACNA1A):c.6596G>A (p.Arg2199Gln) rs1326871701 0.00001
NM_001127222.2(CACNA1A):c.6608A>G (p.Lys2203Arg) rs1057521770 0.00001
NM_001127222.2(CACNA1A):c.6617A>G (p.Lys2206Arg) rs1444251671 0.00001
NM_001127222.2(CACNA1A):c.6629A>G (p.His2210Arg) rs1002423867 0.00001
NM_001127222.2(CACNA1A):c.6679C>T (p.Arg2227Cys) rs757715357 0.00001
NM_001127222.2(CACNA1A):c.6685G>A (p.Ala2229Thr) rs2054683125 0.00001
NM_001127222.2(CACNA1A):c.761C>A (p.Thr254Asn) rs1599292361 0.00001
NM_001127222.2(CACNA1A):c.7C>T (p.Arg3Cys) rs1326606155 0.00001
NM_001127222.2(CACNA1A):c.821C>T (p.Thr274Ile) rs1250942113 0.00001
NM_001127222.2(CACNA1A):c.839C>T (p.Thr280Ile) rs1195270312 0.00001
NM_001127222.2(CACNA1A):c.848A>G (p.Asn283Ser) rs1212952550 0.00001
NC_000019.9:g.(?_13316256)_(13618274_?)dup
NC_000019.9:g.(?_13318860)_(13321486_?)dup
NC_000019.9:g.(?_13318860)_(13363935_?)dup
NC_000019.9:g.(?_13355976)_(13356099_?)del
NC_000019.9:g.(?_13372244)_(13373667_?)dup
NM_001127221.1(CACNA1A):c.6309_6311delGAG rs750511224
NM_001127221.2(CACNA1A):c.6659_6660delinsGC (p.His2220Arg) rs1085307607
NM_001127222.2(CACNA1A):c.100G>C (p.Gly34Arg)
NM_001127222.2(CACNA1A):c.101G>A (p.Gly34Glu)
NM_001127222.2(CACNA1A):c.1105C>T (p.Arg369Trp) rs1057524457
NM_001127222.2(CACNA1A):c.110G>A (p.Arg37Gln)
NM_001127222.2(CACNA1A):c.1118G>A (p.Arg373Gln) rs2145132803
NM_001127222.2(CACNA1A):c.1120C>T (p.Arg374Trp)
NM_001127222.2(CACNA1A):c.1139G>A (p.Arg380Lys)
NM_001127222.2(CACNA1A):c.1151A>G (p.Gln384Arg) rs2058521134
NM_001127222.2(CACNA1A):c.1154T>C (p.Ile385Thr)
NM_001127222.2(CACNA1A):c.1159C>T (p.Arg387Cys)
NM_001127222.2(CACNA1A):c.1166T>C (p.Leu389Pro) rs2058520816
NM_001127222.2(CACNA1A):c.1170T>A (p.Asn390Lys) rs768768744
NM_001127222.2(CACNA1A):c.1197A>T (p.Ala399=)
NM_001127222.2(CACNA1A):c.1198+5G>A rs1568544895
NM_001127222.2(CACNA1A):c.1200A>G (p.Glu400=) rs2145126158
NM_001127222.2(CACNA1A):c.1216G>A (p.Glu406Lys)
NM_001127222.2(CACNA1A):c.1220A>C (p.Asp407Ala)
NM_001127222.2(CACNA1A):c.1220A>G (p.Asp407Gly) rs2058491087
NM_001127222.2(CACNA1A):c.1231G>T (p.Gly411Trp) rs1448345243
NM_001127222.2(CACNA1A):c.1242G>T (p.Arg414Ser) rs763099796
NM_001127222.2(CACNA1A):c.1246C>T (p.Pro416Ser) rs371138043
NM_001127222.2(CACNA1A):c.1255+3A>G
NM_001127222.2(CACNA1A):c.1256-6T>C
NM_001127222.2(CACNA1A):c.1277A>G (p.Lys426Arg) rs1225290298
NM_001127222.2(CACNA1A):c.1282A>T (p.Ser428Cys)
NM_001127222.2(CACNA1A):c.1322_1324del (p.Gln441del)
NM_001127222.2(CACNA1A):c.1337C>T (p.Ala446Val)
NM_001127222.2(CACNA1A):c.1345+4A>G
NM_001127222.2(CACNA1A):c.1345G>C (p.Gly449Arg) rs1194605924
NM_001127222.2(CACNA1A):c.1370T>A (p.Ile457Asn) rs768383869
NM_001127222.2(CACNA1A):c.1373A>T (p.Lys458Ile)
NM_001127222.2(CACNA1A):c.1379C>T (p.Ala460Val)
NM_001127222.2(CACNA1A):c.1387G>A (p.Glu463Lys)
NM_001127222.2(CACNA1A):c.1397C>T (p.Thr466Ile)
NM_001127222.2(CACNA1A):c.1402T>C (p.Phe468Leu)
NM_001127222.2(CACNA1A):c.140T>A (p.Met47Lys)
NM_001127222.2(CACNA1A):c.1413G>C (p.Lys471Asn) rs369920914
NM_001127222.2(CACNA1A):c.1418G>A (p.Arg473Lys) rs1401413921
NM_001127222.2(CACNA1A):c.1426C>T (p.Arg476Cys) rs2145051308
NM_001127222.2(CACNA1A):c.1435A>G (p.Ile479Val)
NM_001127222.2(CACNA1A):c.1442G>T (p.Arg481Leu) rs763944721
NM_001127222.2(CACNA1A):c.1444A>G (p.Met482Val) rs1555762900
NM_001127222.2(CACNA1A):c.1448T>A (p.Val483Asp)
NM_001127222.2(CACNA1A):c.1471A>C (p.Thr491Pro)
NM_001127222.2(CACNA1A):c.1480A>G (p.Ser494Gly)
NM_001127222.2(CACNA1A):c.1534G>C (p.Glu512Gln) rs375210532
NM_001127222.2(CACNA1A):c.1547A>C (p.Asp516Ala)
NM_001127222.2(CACNA1A):c.157G>A (p.Ala53Thr)
NM_001127222.2(CACNA1A):c.1585T>C (p.Phe529Leu) rs2058058208
NM_001127222.2(CACNA1A):c.1588A>G (p.Met530Val) rs374764234
NM_001127222.2(CACNA1A):c.1623G>T (p.Gly541=) rs375628894
NM_001127222.2(CACNA1A):c.1624A>T (p.Thr542Ser)
NM_001127222.2(CACNA1A):c.1625C>T (p.Thr542Met)
NM_001127222.2(CACNA1A):c.1628G>A (p.Arg543Gln)
NM_001127222.2(CACNA1A):c.1663T>C (p.Cys555Arg) rs1600303388
NM_001127222.2(CACNA1A):c.1668+3A>G
NM_001127222.2(CACNA1A):c.1669-3T>C rs750090822
NM_001127222.2(CACNA1A):c.1669G>C (p.Val557Leu)
NM_001127222.2(CACNA1A):c.167C>G (p.Ala56Gly)
NM_001127222.2(CACNA1A):c.1690G>A (p.Glu564Lys) rs1057519099
NM_001127222.2(CACNA1A):c.1697T>G (p.Ile566Ser)
NM_001127222.2(CACNA1A):c.169C>T (p.Arg57Trp) rs1982997781
NM_001127222.2(CACNA1A):c.1706T>C (p.Val569Ala) rs2145005688
NM_001127222.2(CACNA1A):c.170G>A (p.Arg57Gln)
NM_001127222.2(CACNA1A):c.1735A>G (p.Ser579Gly) rs2145005615
NM_001127222.2(CACNA1A):c.1748C>T (p.Ala583Val) rs2145005553
NM_001127222.2(CACNA1A):c.174_176del (p.Met59del)
NM_001127222.2(CACNA1A):c.1781+3A>C
NM_001127222.2(CACNA1A):c.1781A>C (p.Lys594Thr) rs2145005448
NM_001127222.2(CACNA1A):c.1805T>C (p.Leu602Pro) rs2057948232
NM_001127222.2(CACNA1A):c.1819C>T (p.Leu607Phe) rs2057947991
NM_001127222.2(CACNA1A):c.1830G>A (p.Met610Ile) rs2145004244
NM_001127222.2(CACNA1A):c.1843A>C (p.Ser615Arg) rs2057947681
NM_001127222.2(CACNA1A):c.1857_1859dup (p.Leu620_Phe621insLeu)
NM_001127222.2(CACNA1A):c.1881C>G (p.Phe627Leu)
NM_001127222.2(CACNA1A):c.1883C>T (p.Ala628Val) rs1600292507
NM_001127222.2(CACNA1A):c.1910G>T (p.Gly637Val) rs121908246
NM_001127222.2(CACNA1A):c.191C>T (p.Pro64Leu) rs2145192387
NM_001127222.2(CACNA1A):c.1940C>T (p.Pro647Leu) rs2057937902
NM_001127222.2(CACNA1A):c.1951G>A (p.Asp651Asn)
NM_001127222.2(CACNA1A):c.1969A>G (p.Ile657Val) rs375173544
NM_001127222.2(CACNA1A):c.1973T>A (p.Met658Lys) rs2145002206
NM_001127222.2(CACNA1A):c.1975A>G (p.Thr659Ala) rs2145002197
NM_001127222.2(CACNA1A):c.1978G>A (p.Val660Met) rs2145002166
NM_001127222.2(CACNA1A):c.1978_1980del (p.Val660del) rs2057937382
NM_001127222.2(CACNA1A):c.1986+6G>A rs1791823785
NM_001127222.2(CACNA1A):c.1991T>C (p.Leu664Pro)
NM_001127222.2(CACNA1A):c.199G>A (p.Val67Ile)
NM_001127222.2(CACNA1A):c.19G>A (p.Glu7Lys)
NM_001127222.2(CACNA1A):c.2003A>T (p.Asp668Val)
NM_001127222.2(CACNA1A):c.2011G>A (p.Glu671Lys) rs1434942721
NM_001127222.2(CACNA1A):c.2023G>A (p.Asp675Asn) rs906669300
NM_001127222.2(CACNA1A):c.2040G>C (p.Gln680His)
NM_001127222.2(CACNA1A):c.2047G>A (p.Val683Met)
NM_001127222.2(CACNA1A):c.2056G>A (p.Gly686Ser) rs1064795643
NM_001127222.2(CACNA1A):c.2075A>G (p.Tyr692Cys) rs2057841267
NM_001127222.2(CACNA1A):c.2088G>A (p.Leu696=) rs908321451
NM_001127222.2(CACNA1A):c.2105-9C>G rs1392079452
NM_001127222.2(CACNA1A):c.2105-9C>T
NM_001127222.2(CACNA1A):c.2105A>T (p.Tyr702Phe) rs2057837052
NM_001127222.2(CACNA1A):c.2107A>T (p.Thr703Ser) rs1600283133
NM_001127222.2(CACNA1A):c.2118T>G (p.Asn706Lys) rs2057836849
NM_001127222.2(CACNA1A):c.2123T>C (p.Phe708Ser) rs2057836815
NM_001127222.2(CACNA1A):c.2127G>T (p.Leu709Phe) rs886041654
NM_001127222.2(CACNA1A):c.2133C>A (p.Ile711=) rs764839814
NM_001127222.2(CACNA1A):c.2133C>G (p.Ile711Met) rs764839814
NM_001127222.2(CACNA1A):c.2141A>G (p.Asp714Gly) rs2057836063
NM_001127222.2(CACNA1A):c.2149G>A (p.Ala717Thr) rs2144979185
NM_001127222.2(CACNA1A):c.2188G>C (p.Glu730Gln)
NM_001127222.2(CACNA1A):c.2210T>C (p.Leu737Pro) rs2057767797
NM_001127222.2(CACNA1A):c.2237C>A (p.Ala746Glu)
NM_001127222.2(CACNA1A):c.2245A>G (p.Ser749Gly) rs1248327304
NM_001127222.2(CACNA1A):c.2255C>A (p.Ser752Tyr) rs535900273
NM_001127222.2(CACNA1A):c.225C>G (p.Asn75Lys) rs1982991598
NM_001127222.2(CACNA1A):c.2291A>G (p.Gln764Arg)
NM_001127222.2(CACNA1A):c.2299C>A (p.Gln767Lys)
NM_001127222.2(CACNA1A):c.2304G>C (p.Lys768Asn) rs771905201
NM_001127222.2(CACNA1A):c.2308G>A (p.Ala770Thr)
NM_001127222.2(CACNA1A):c.2309C>T (p.Ala770Val) rs2057740662
NM_001127222.2(CACNA1A):c.2312A>G (p.Lys771Arg)
NM_001127222.2(CACNA1A):c.2327A>G (p.Gln776Arg)
NM_001127222.2(CACNA1A):c.2335A>T (p.Ser779Cys) rs2144958254
NM_001127222.2(CACNA1A):c.2336G>A (p.Ser779Asn)
NM_001127222.2(CACNA1A):c.2336G>C (p.Ser779Thr) rs372715067
NM_001127222.2(CACNA1A):c.2343G>A (p.Met781Ile)
NM_001127222.2(CACNA1A):c.2352G>C (p.Gln784His) rs2144958118
NM_001127222.2(CACNA1A):c.2355C>G (p.Asn785Lys) rs2144958094
NM_001127222.2(CACNA1A):c.235T>G (p.Phe79Val) rs2145192231
NM_001127222.2(CACNA1A):c.235_237del (p.Phe79del) rs1568719711
NM_001127222.2(CACNA1A):c.2371G>A (p.Glu791Lys)
NM_001127222.2(CACNA1A):c.2374G>T (p.Ala792Ser) rs753248182
NM_001127222.2(CACNA1A):c.2381A>G (p.Tyr794Cys)
NM_001127222.2(CACNA1A):c.2383A>T (p.Asn795Tyr)
NM_001127222.2(CACNA1A):c.2386G>A (p.Glu796Lys)
NM_001127222.2(CACNA1A):c.2392G>A (p.Asp798Asn) rs1380195853
NM_001127222.2(CACNA1A):c.2393A>G (p.Asp798Gly)
NM_001127222.2(CACNA1A):c.2401G>A (p.Glu801Lys)
NM_001127222.2(CACNA1A):c.2407T>C (p.Trp803Arg)
NM_001127222.2(CACNA1A):c.2420A>C (p.Tyr807Ser)
NM_001127222.2(CACNA1A):c.2422A>T (p.Thr808Ser) rs772177961
NM_001127222.2(CACNA1A):c.2426G>A (p.Arg809Gln) rs2057737782
NM_001127222.2(CACNA1A):c.2430C>A (p.His810Gln)
NM_001127222.2(CACNA1A):c.2435G>T (p.Arg812Leu) rs953797733
NM_001127222.2(CACNA1A):c.2447A>G (p.Lys816Arg)
NM_001127222.2(CACNA1A):c.2456T>C (p.Leu819Ser)
NM_001127222.2(CACNA1A):c.2465C>T (p.Pro822Leu)
NM_001127222.2(CACNA1A):c.2473G>A (p.Val825Met) rs2144957270
NM_001127222.2(CACNA1A):c.2487G>C (p.Glu829Asp) rs755434242
NM_001127222.2(CACNA1A):c.2491C>A (p.Arg831Ser) rs1464680327
NM_001127222.2(CACNA1A):c.2492G>C (p.Arg831Pro) rs1242675074
NM_001127222.2(CACNA1A):c.2495A>G (p.Asn832Ser)
NM_001127222.2(CACNA1A):c.2495ACA[2] (p.Asn834del) rs750962335
NM_001127222.2(CACNA1A):c.2510A>G (p.Lys837Arg) rs1293855171
NM_001127222.2(CACNA1A):c.2512A>G (p.Ser838Gly)
NM_001127222.2(CACNA1A):c.2513G>T (p.Ser838Ile) rs2057735935
NM_001127222.2(CACNA1A):c.2518G>C (p.Ala840Pro)
NM_001127222.2(CACNA1A):c.2519C>T (p.Ala840Val)
NM_001127222.2(CACNA1A):c.2531C>T (p.Thr844Ile)
NM_001127222.2(CACNA1A):c.2533G>A (p.Val845Met) rs1168020406
NM_001127222.2(CACNA1A):c.2560G>C (p.Ala854Pro)
NM_001127222.2(CACNA1A):c.2563G>A (p.Glu855Lys)
NM_001127222.2(CACNA1A):c.2564A>C (p.Glu855Ala) rs2057734618
NM_001127222.2(CACNA1A):c.2581C>G (p.Gln861Glu) rs1407784551
NM_001127222.2(CACNA1A):c.2582_2599del (p.Gln861_Asp866del) rs767951499
NM_001127222.2(CACNA1A):c.2587C>A (p.Arg863Ser) rs777076641
NM_001127222.2(CACNA1A):c.2587C>G (p.Arg863Gly)
NM_001127222.2(CACNA1A):c.258G>C (p.Val86=)
NM_001127222.2(CACNA1A):c.2599C>A (p.Arg867=) rs2057733890
NM_001127222.2(CACNA1A):c.25C>T (p.Pro9Ser)
NM_001127222.2(CACNA1A):c.2602G>A (p.Ala868Thr) rs1175516920
NM_001127222.2(CACNA1A):c.2602G>T (p.Ala868Ser)
NM_001127222.2(CACNA1A):c.2603C>T (p.Ala868Val)
NM_001127222.2(CACNA1A):c.2611C>T (p.Pro871Ser) rs780462531
NM_001127222.2(CACNA1A):c.2616C>A (p.Ser872Arg)
NM_001127222.2(CACNA1A):c.2619C>T (p.Gly873=) rs761874927
NM_001127222.2(CACNA1A):c.2621C>T (p.Ser874Leu) rs1057522802
NM_001127222.2(CACNA1A):c.2630T>A (p.Leu877Gln)
NM_001127222.2(CACNA1A):c.2636C>T (p.Ala879Val) rs2057732636
NM_001127222.2(CACNA1A):c.2644C>T (p.Pro882Ser)
NM_001127222.2(CACNA1A):c.2654G>A (p.Gly885Glu)
NM_001127222.2(CACNA1A):c.2668G>A (p.Glu890Lys)
NM_001127222.2(CACNA1A):c.2668G>C (p.Glu890Gln)
NM_001127222.2(CACNA1A):c.2672T>A (p.Leu891Gln) rs1171365113
NM_001127222.2(CACNA1A):c.2683G>C (p.Gly895Arg) rs1358948688
NM_001127222.2(CACNA1A):c.2692G>C (p.Gly898Arg) rs751726770
NM_001127222.2(CACNA1A):c.26C>G (p.Pro9Arg)
NM_001127222.2(CACNA1A):c.2704G>T (p.Asp902Tyr) rs2057730771
NM_001127222.2(CACNA1A):c.2706C>G (p.Asp902Glu) rs1446752227
NM_001127222.2(CACNA1A):c.2708A>C (p.His903Pro) rs1600272904
NM_001127222.2(CACNA1A):c.2728C>G (p.Leu910Val)
NM_001127222.2(CACNA1A):c.2729T>A (p.Leu910Gln) rs953766694
NM_001127222.2(CACNA1A):c.2755G>A (p.Glu919Lys) rs1555756130
NM_001127222.2(CACNA1A):c.2755_2769dup (p.Glu919_Gly923dup) rs2057728868
NM_001127222.2(CACNA1A):c.2776G>A (p.Gly926Arg) rs1337217129
NM_001127222.2(CACNA1A):c.2801A>G (p.His934Arg)
NM_001127222.2(CACNA1A):c.2803C>T (p.Arg935Trp) rs931394162
NM_001127222.2(CACNA1A):c.2806C>G (p.Gln936Glu) rs1318353774
NM_001127222.2(CACNA1A):c.2808G>T (p.Gln936His) rs1439845382
NM_001127222.2(CACNA1A):c.2810G>T (p.Gly937Val)
NM_001127222.2(CACNA1A):c.2813G>A (p.Gly938Asp) rs747413278
NM_001127222.2(CACNA1A):c.2819G>A (p.Arg940Lys) rs1439559578
NM_001127222.2(CACNA1A):c.2821G>C (p.Glu941Gln)
NM_001127222.2(CACNA1A):c.2823G>C (p.Glu941Asp)
NM_001127222.2(CACNA1A):c.2830A>T (p.Ser944Cys)
NM_001127222.2(CACNA1A):c.2840C>G (p.Pro947Arg)
NM_001127222.2(CACNA1A):c.2843G>T (p.Arg948Leu)
NM_001127222.2(CACNA1A):c.284C>G (p.Thr95Ser)
NM_001127222.2(CACNA1A):c.2851G>A (p.Ala951Thr)
NM_001127222.2(CACNA1A):c.2856C>A (p.Asp952Glu) rs2057726092
NM_001127222.2(CACNA1A):c.2857G>A (p.Gly953Arg) rs1057518292
NM_001127222.2(CACNA1A):c.2858G>A (p.Gly953Glu)
NM_001127222.2(CACNA1A):c.2863C>T (p.His955Tyr) rs2057725846
NM_001127222.2(CACNA1A):c.2867G>A (p.Arg956Gln) rs551380805
NM_001127222.2(CACNA1A):c.2867G>C (p.Arg956Pro)
NM_001127222.2(CACNA1A):c.2875C>A (p.Arg959Ser)
NM_001127222.2(CACNA1A):c.2893G>A (p.Gly965Arg) rs1473069840
NM_001127222.2(CACNA1A):c.2896G>A (p.Glu966Lys) rs747456771
NM_001127222.2(CACNA1A):c.2896G>C (p.Glu966Gln)
NM_001127222.2(CACNA1A):c.2899_2900delinsTT (p.Glu967Leu) rs2144953620
NM_001127222.2(CACNA1A):c.2909A>G (p.Glu970Gly) rs1555755916
NM_001127222.2(CACNA1A):c.2914A>G (p.Lys972Glu) rs2144953504
NM_001127222.2(CACNA1A):c.2924G>A (p.Arg975Gln) rs748418783
NM_001127222.2(CACNA1A):c.2924G>T (p.Arg975Leu) rs748418783
NM_001127222.2(CACNA1A):c.2930C>T (p.Ala977Val) rs1432898385
NM_001127222.2(CACNA1A):c.293C>T (p.Pro98Leu) rs2145192098
NM_001127222.2(CACNA1A):c.294-1C>A rs1568662077
NM_001127222.2(CACNA1A):c.2941G>A (p.Glu981Lys)
NM_001127222.2(CACNA1A):c.2944G>A (p.Gly982Ser) rs1367737519
NM_001127222.2(CACNA1A):c.2956G>A (p.Ala986Thr) rs376228771
NM_001127222.2(CACNA1A):c.2956G>T (p.Ala986Ser)
NM_001127222.2(CACNA1A):c.2957C>T (p.Ala986Val) rs2144953042
NM_001127222.2(CACNA1A):c.2959C>T (p.Arg987Trp) rs1489702072
NM_001127222.2(CACNA1A):c.2965G>T (p.Gly989Cys)
NM_001127222.2(CACNA1A):c.2966_2967delinsTT (p.Gly989Val) rs2144952921
NM_001127222.2(CACNA1A):c.2966_2989del (p.Gly989_Pro996del) rs2144952654
NM_001127222.2(CACNA1A):c.2968GAGGGC[1] (p.990EG[1]) rs764399373
NM_001127222.2(CACNA1A):c.2974G>C (p.Glu992Gln) rs2057722066
NM_001127222.2(CACNA1A):c.2982G>C (p.Glu994Asp) rs2144952767
NM_001127222.2(CACNA1A):c.2983_3000dup (p.Gly995_Glu1000dup) rs2057721057
NM_001127222.2(CACNA1A):c.2984G>T (p.Gly995Val) rs1002778568
NM_001127222.2(CACNA1A):c.2987C>G (p.Pro996Arg) rs750356248
NM_001127222.2(CACNA1A):c.2987C>T (p.Pro996Leu)
NM_001127222.2(CACNA1A):c.2989G>A (p.Asp997Asn) rs2057721376
NM_001127222.2(CACNA1A):c.2993G>A (p.Gly998Glu) rs2057721231
NM_001127222.2(CACNA1A):c.2995G>A (p.Gly999Ser)
NM_001127222.2(CACNA1A):c.3000G>T (p.Glu1000Asp)
NM_001127222.2(CACNA1A):c.3002G>T (p.Arg1001Leu) rs1424294725
NM_001127222.2(CACNA1A):c.3004A>T (p.Arg1002Trp) rs1175036875
NM_001127222.2(CACNA1A):c.3006_3008del (p.Arg1004del) rs763302316
NM_001127222.2(CACNA1A):c.3020A>T (p.His1007Leu)
NM_001127222.2(CACNA1A):c.3023G>A (p.Gly1008Asp)
NM_001127222.2(CACNA1A):c.3042G>C (p.Glu1014Asp) rs868354475
NM_001127222.2(CACNA1A):c.3046G>A (p.Asp1016Asn) rs2057719269
NM_001127222.2(CACNA1A):c.3049G>A (p.Ala1017Thr)
NM_001127222.2(CACNA1A):c.3053G>A (p.Arg1018Gln) rs762288499
NM_001127222.2(CACNA1A):c.3067G>A (p.Glu1023Lys) rs1555755809
NM_001127222.2(CACNA1A):c.3077A>G (p.His1026Arg) rs2057717972
NM_001127222.2(CACNA1A):c.3079C>G (p.Arg1027Gly) rs1064794406
NM_001127222.2(CACNA1A):c.3079C>T (p.Arg1027Trp)
NM_001127222.2(CACNA1A):c.3085A>G (p.Arg1029Gly)
NM_001127222.2(CACNA1A):c.3089+4A>G
NM_001127222.2(CACNA1A):c.3090-3C>T
NM_001127222.2(CACNA1A):c.3093G>C (p.Glu1031Asp)
NM_001127222.2(CACNA1A):c.3100G>A (p.Gly1034Ser) rs1600246766
NM_001127222.2(CACNA1A):c.3101G>A (p.Gly1034Asp) rs2144889565
NM_001127222.2(CACNA1A):c.3124C>A (p.Pro1042Thr) rs2057414935
NM_001127222.2(CACNA1A):c.3129C>A (p.Asn1043Lys) rs1187232740
NM_001127222.2(CACNA1A):c.3157G>C (p.Asp1053His) rs2144889174
NM_001127222.2(CACNA1A):c.3164G>C (p.Gly1055Ala) rs1600246526
NM_001127222.2(CACNA1A):c.3175C>A (p.Pro1059Thr)
NM_001127222.2(CACNA1A):c.3179C>G (p.Pro1060Arg) rs763400188
NM_001127222.2(CACNA1A):c.3190G>C (p.Asp1064His)
NM_001127222.2(CACNA1A):c.31C>T (p.Arg11Cys)
NM_001127222.2(CACNA1A):c.3213C>A (p.Asn1071Lys) rs1369614864
NM_001127222.2(CACNA1A):c.323T>C (p.Ile108Thr)
NM_001127222.2(CACNA1A):c.3241C>T (p.Pro1081Ser) rs1467243087
NM_001127222.2(CACNA1A):c.324C>G (p.Ile108Met) rs2144947382
NM_001127222.2(CACNA1A):c.3262G>T (p.Ala1088Ser)
NM_001127222.2(CACNA1A):c.3266G>T (p.Gly1089Val)
NM_001127222.2(CACNA1A):c.3307C>T (p.Pro1103Ser)
NM_001127222.2(CACNA1A):c.3310_3315dup (p.Gly1104_Pro1105dup) rs776584949
NM_001127222.2(CACNA1A):c.3325A>T (p.Ile1109Phe) rs1568495538
NM_001127222.2(CACNA1A):c.3329C>A (p.Pro1110His)
NM_001127222.2(CACNA1A):c.3334A>G (p.Met1112Val)
NM_001127222.2(CACNA1A):c.3349C>A (p.Gln1117Lys)
NM_001127222.2(CACNA1A):c.3355G>C (p.Ala1119Pro) rs199745070
NM_001127222.2(CACNA1A):c.337A>T (p.Ile113Phe)
NM_001127222.2(CACNA1A):c.3383C>A (p.Pro1128Gln) rs754208553
NM_001127222.2(CACNA1A):c.3393_3401dup (p.Ser1132_Pro1134dup) rs770648017
NM_001127222.2(CACNA1A):c.3395C>T (p.Ser1132Phe) rs2144887797
NM_001127222.2(CACNA1A):c.3406C>T (p.Pro1136Ser) rs764131315
NM_001127222.2(CACNA1A):c.3409C>A (p.Pro1137Thr)
NM_001127222.2(CACNA1A):c.3410C>A (p.Pro1137His) rs200333359
NM_001127222.2(CACNA1A):c.3413A>G (p.Lys1138Arg) rs746555911
NM_001127222.2(CACNA1A):c.3413A>T (p.Lys1138Met)
NM_001127222.2(CACNA1A):c.3430C>T (p.Leu1144Phe) rs2057405997
NM_001127222.2(CACNA1A):c.3461C>G (p.Thr1154Ser)
NM_001127222.2(CACNA1A):c.3464A>T (p.Asn1155Ile) rs992828062
NM_001127222.2(CACNA1A):c.346G>A (p.Ala116Thr) rs778725158
NM_001127222.2(CACNA1A):c.3473A>C (p.Lys1158Thr)
NM_001127222.2(CACNA1A):c.3478G>A (p.Ala1160Thr) rs1256731049
NM_001127222.2(CACNA1A):c.3478G>T (p.Ala1160Ser)
NM_001127222.2(CACNA1A):c.3479C>G (p.Ala1160Gly) rs766027931
NM_001127222.2(CACNA1A):c.3488_3489delinsAA (p.Pro1163Gln)
NM_001127222.2(CACNA1A):c.34T>C (p.Tyr12His)
NM_001127222.2(CACNA1A):c.3515C>T (p.Pro1172Leu)
NM_001127222.2(CACNA1A):c.3526C>A (p.Pro1176Thr) rs1458640910
NM_001127222.2(CACNA1A):c.3529C>A (p.Pro1177Thr) rs1057522207
NM_001127222.2(CACNA1A):c.3529C>G (p.Pro1177Ala) rs1057522207
NM_001127222.2(CACNA1A):c.3529C>T (p.Pro1177Ser) rs1057522207
NM_001127222.2(CACNA1A):c.3533T>C (p.Leu1178Pro)
NM_001127222.2(CACNA1A):c.3542C>T (p.Thr1181Ile)
NM_001127222.2(CACNA1A):c.3545T>C (p.Val1182Ala)
NM_001127222.2(CACNA1A):c.3565G>A (p.Ala1189Thr) rs1034876149
NM_001127222.2(CACNA1A):c.3584C>T (p.Pro1195Leu) rs1568493631
NM_001127222.2(CACNA1A):c.3597_3599del (p.Glu1200del)
NM_001127222.2(CACNA1A):c.3598G>A (p.Glu1200Lys)
NM_001127222.2(CACNA1A):c.35A>T (p.Tyr12Phe) rs994265107
NM_001127222.2(CACNA1A):c.3606GGA[3] (p.Glu1206del) rs750826355
NM_001127222.2(CACNA1A):c.3625C>A (p.Arg1209Ser) rs781026181
NM_001127222.2(CACNA1A):c.3625C>T (p.Arg1209Cys) rs781026181
NM_001127222.2(CACNA1A):c.3637G>T (p.Gly1213Cys)
NM_001127222.2(CACNA1A):c.3646C>T (p.Pro1216Ser)
NM_001127222.2(CACNA1A):c.3686C>A (p.Thr1229Asn)
NM_001127222.2(CACNA1A):c.3686C>T (p.Thr1229Ile)
NM_001127222.2(CACNA1A):c.3691C>T (p.Pro1231Ser)
NM_001127222.2(CACNA1A):c.3692C>T (p.Pro1231Leu)
NM_001127222.2(CACNA1A):c.3693-3C>T
NM_001127222.2(CACNA1A):c.3693-4A>G
NM_001127222.2(CACNA1A):c.3693C>G (p.Pro1231=) rs1555751817
NM_001127222.2(CACNA1A):c.3697C>T (p.Arg1233Cys) rs2057333004
NM_001127222.2(CACNA1A):c.3701G>C (p.Arg1234Pro) rs373183625
NM_001127222.2(CACNA1A):c.3742_3744del (p.Cys1248del)
NM_001127222.2(CACNA1A):c.3757A>T (p.Ile1253Phe) rs2144871593
NM_001127222.2(CACNA1A):c.3764T>C (p.Met1255Thr) rs1085307644
NM_001127222.2(CACNA1A):c.3765G>A (p.Met1255Ile) rs2144871559
NM_001127222.2(CACNA1A):c.379A>G (p.Thr127Ala) rs2144947148
NM_001127222.2(CACNA1A):c.3814C>A (p.Arg1272=) rs372970430
NM_001127222.2(CACNA1A):c.3815G>A (p.Arg1272Gln) rs2057331138
NM_001127222.2(CACNA1A):c.3817AAC[1] (p.Asn1274del) rs1085307864
NM_001127222.2(CACNA1A):c.3820A>G (p.Asn1274Asp) rs2144871278
NM_001127222.2(CACNA1A):c.3822+6T>C
NM_001127222.2(CACNA1A):c.3823G>C (p.Val1275Leu) rs995835535
NM_001127222.2(CACNA1A):c.383C>T (p.Pro128Leu)
NM_001127222.2(CACNA1A):c.3841T>A (p.Tyr1281Asn) rs1184262651
NM_001127222.2(CACNA1A):c.3844G>C (p.Val1282Leu)
NM_001127222.2(CACNA1A):c.3851C>T (p.Thr1284Ile) rs2057169185
NM_001127222.2(CACNA1A):c.3853G>A (p.Gly1285Ser)
NM_001127222.2(CACNA1A):c.3873G>A (p.Met1291Ile) rs2144839595
NM_001127222.2(CACNA1A):c.394C>T (p.Arg132Trp)
NM_001127222.2(CACNA1A):c.395G>A (p.Arg132Gln)
NM_001127222.2(CACNA1A):c.399+4A>G
NM_001127222.2(CACNA1A):c.3998G>A (p.Ser1333Asn) rs2056768399
NM_001127222.2(CACNA1A):c.399G>C (p.Leu133=) rs2144947082
NM_001127222.2(CACNA1A):c.4027T>C (p.Ser1343Pro) rs2056768058
NM_001127222.2(CACNA1A):c.4028C>T (p.Ser1343Phe)
NM_001127222.2(CACNA1A):c.4061A>C (p.Lys1354Thr)
NM_001127222.2(CACNA1A):c.4064C>T (p.Thr1355Ile) rs2056767062
NM_001127222.2(CACNA1A):c.4078C>T (p.Pro1360Ser)
NM_001127222.2(CACNA1A):c.4087A>G (p.Lys1363Glu) rs2144772824
NM_001127222.2(CACNA1A):c.4089+3G>T
NM_001127222.2(CACNA1A):c.4089+6A>T
NM_001127222.2(CACNA1A):c.4251A>T (p.Arg1417=)
NM_001127222.2(CACNA1A):c.4322A>T (p.His1441Leu) rs2144758379
NM_001127222.2(CACNA1A):c.4327G>A (p.Asp1443Asn) rs1443877971
NM_001127222.2(CACNA1A):c.433T>G (p.Cys145Gly) rs2144936384
NM_001127222.2(CACNA1A):c.4352C>G (p.Thr1451Ser)
NM_001127222.2(CACNA1A):c.4370C>T (p.Thr1457Met) rs2056673232
NM_001127222.2(CACNA1A):c.4388+3A>G
NM_001127222.2(CACNA1A):c.4388+6T>C
NM_001127222.2(CACNA1A):c.4390G>A (p.Val1464Ile) rs2144748776
NM_001127222.2(CACNA1A):c.4447C>T (p.Arg1483Cys) rs2144748587
NM_001127222.2(CACNA1A):c.4469A>G (p.Tyr1490Cys) rs1064795901
NM_001127222.2(CACNA1A):c.4471GTC[1] (p.Val1492del)
NM_001127222.2(CACNA1A):c.4526TCA[2] (p.Ile1511del)
NM_001127222.2(CACNA1A):c.4535C>A (p.Thr1512Asn) rs2144748262
NM_001127222.2(CACNA1A):c.4561A>G (p.Met1521Val) rs2144748158
NM_001127222.2(CACNA1A):c.4574G>A (p.Ser1525Asn) rs2056600119
NM_001127222.2(CACNA1A):c.4590+5C>G
NM_001127222.2(CACNA1A):c.4590+6A>G
NM_001127222.2(CACNA1A):c.4592G>A (p.Arg1531Lys) rs2144735318
NM_001127222.2(CACNA1A):c.4605T>G (p.Asp1535Glu)
NM_001127222.2(CACNA1A):c.4609G>T (p.Ala1537Ser)
NM_001127222.2(CACNA1A):c.4612A>C (p.Ile1538Leu)
NM_001127222.2(CACNA1A):c.4612A>G (p.Ile1538Val)
NM_001127222.2(CACNA1A):c.4634G>A (p.Arg1545Gln) rs775048630
NM_001127222.2(CACNA1A):c.4634G>T (p.Arg1545Leu)
NM_001127222.2(CACNA1A):c.4636C>T (p.His1546Tyr) rs2144735184
NM_001127222.2(CACNA1A):c.4639A>G (p.Met1547Val)
NM_001127222.2(CACNA1A):c.4639A>T (p.Met1547Leu)
NM_001127222.2(CACNA1A):c.4654C>G (p.Gln1552Glu)
NM_001127222.2(CACNA1A):c.467G>T (p.Gly156Val)
NM_001127222.2(CACNA1A):c.4683C>G (p.Phe1561Leu) rs377082780
NM_001127222.2(CACNA1A):c.4684G>A (p.Val1562Met) rs1568465560
NM_001127222.2(CACNA1A):c.4684G>C (p.Val1562Leu) rs1568465560
NM_001127222.2(CACNA1A):c.4687G>T (p.Val1563Leu)
NM_001127222.2(CACNA1A):c.4693C>G (p.Pro1565Ala)
NM_001127222.2(CACNA1A):c.470T>C (p.Phe157Ser)
NM_001127222.2(CACNA1A):c.4714A>G (p.Met1572Val) rs2056510928
NM_001127222.2(CACNA1A):c.4716G>A (p.Met1572Ile)
NM_001127222.2(CACNA1A):c.4720A>G (p.Met1574Val) rs1555743201
NM_001127222.2(CACNA1A):c.4726G>A (p.Ala1576Thr) rs2056510591
NM_001127222.2(CACNA1A):c.4738A>G (p.Ile1580Val)
NM_001127222.2(CACNA1A):c.4748TGA[1] (p.Met1584del)
NM_001127222.2(CACNA1A):c.4758C>A (p.Phe1586Leu) rs2056445437
NM_001127222.2(CACNA1A):c.4792C>T (p.Arg1598Trp)
NM_001127222.2(CACNA1A):c.4804A>G (p.Ile1602Val) rs2056444576
NM_001127222.2(CACNA1A):c.4805T>C (p.Ile1602Thr) rs2056444494
NM_001127222.2(CACNA1A):c.4836T>G (p.Cys1612Trp) rs781413708
NM_001127222.2(CACNA1A):c.4843A>G (p.Lys1615Glu) rs2056443467
NM_001127222.2(CACNA1A):c.4847T>C (p.Val1616Ala)
NM_001127222.2(CACNA1A):c.4867-6T>G rs2056196120
NM_001127222.2(CACNA1A):c.4874T>G (p.Phe1625Cys) rs771061659
NM_001127222.2(CACNA1A):c.488C>T (p.Ser163Phe) rs1555789107
NM_001127222.2(CACNA1A):c.4899C>G (p.Asp1633Glu) rs2144692015
NM_001127222.2(CACNA1A):c.4942G>C (p.Glu1648Gln) rs1417421667
NM_001127222.2(CACNA1A):c.4951-5C>A
NM_001127222.2(CACNA1A):c.4951A>G (p.Asn1651Asp)
NM_001127222.2(CACNA1A):c.4970G>T (p.Ser1657Ile)
NM_001127222.2(CACNA1A):c.4991C>G (p.Ala1664Gly)
NM_001127222.2(CACNA1A):c.4999C>T (p.Leu1667Phe) rs2144649806
NM_001127222.2(CACNA1A):c.4G>T (p.Ala2Ser) rs2145193160
NM_001127222.2(CACNA1A):c.5009T>G (p.Leu1670Arg)
NM_001127222.2(CACNA1A):c.5018A>G (p.Gln1673Arg) rs2055850287
NM_001127222.2(CACNA1A):c.5021G>A (p.Gly1674Asp) rs895744093
NM_001127222.2(CACNA1A):c.5029A>G (p.Ile1677Val) rs766623973
NM_001127222.2(CACNA1A):c.502G>A (p.Gly168Ser) rs2144936186
NM_001127222.2(CACNA1A):c.5051T>C (p.Phe1684Ser)
NM_001127222.2(CACNA1A):c.5053G>A (p.Val1685Met) rs1442400930
NM_001127222.2(CACNA1A):c.5057A>G (p.Gln1686Arg) rs2055848608
NM_001127222.2(CACNA1A):c.5058G>C (p.Gln1686His)
NM_001127222.2(CACNA1A):c.5068-3C>T
NM_001127222.2(CACNA1A):c.5077T>C (p.Tyr1693His)
NM_001127222.2(CACNA1A):c.5095G>C (p.Ala1699Pro) rs371273055
NM_001127222.2(CACNA1A):c.50C>G (p.Ser17Cys) rs931963287
NM_001127222.2(CACNA1A):c.5104T>C (p.Phe1702Leu) rs2055834394
NM_001127222.2(CACNA1A):c.512T>A (p.Val171Asp)
NM_001127222.2(CACNA1A):c.5133+3G>A
NM_001127222.2(CACNA1A):c.5133+3G>C rs1320790447
NM_001127222.2(CACNA1A):c.5133+5G>A rs2144647781
NM_001127222.2(CACNA1A):c.5140G>C (p.Gly1714Arg)
NM_001127222.2(CACNA1A):c.5152A>T (p.Ile1718Phe)
NM_001127222.2(CACNA1A):c.5154C>G (p.Ile1718Met)
NM_001127222.2(CACNA1A):c.5159T>A (p.Val1720Glu)
NM_001127222.2(CACNA1A):c.5165A>G (p.Asp1722Gly)
NM_001127222.2(CACNA1A):c.5167G>A (p.Glu1723Lys) rs931067957
NM_001127222.2(CACNA1A):c.5182G>A (p.Asp1728Asn) rs1436816057
NM_001127222.2(CACNA1A):c.5198C>T (p.Thr1733Ile) rs2144646721
NM_001127222.2(CACNA1A):c.5215C>T (p.Arg1739Trp) rs2144646626
NM_001127222.2(CACNA1A):c.5216G>A (p.Arg1739Gln)
NM_001127222.2(CACNA1A):c.5236A>G (p.Met1746Val)
NM_001127222.2(CACNA1A):c.5238G>C (p.Met1746Ile) rs1210283621
NM_001127222.2(CACNA1A):c.523G>A (p.Val175Met)
NM_001127222.2(CACNA1A):c.5248C>A (p.Arg1750=)
NM_001127222.2(CACNA1A):c.5248C>G (p.Arg1750Gly)
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.5249G>C (p.Arg1750Pro)
NM_001127222.2(CACNA1A):c.5251A>C (p.Ser1751Arg)
NM_001127222.2(CACNA1A):c.526G>C (p.Val176Leu) rs1057521920
NM_001127222.2(CACNA1A):c.5328C>G (p.Ile1776Met)
NM_001127222.2(CACNA1A):c.5335C>A (p.Arg1779=) rs2144629622
NM_001127222.2(CACNA1A):c.5348A>G (p.Asn1783Ser)
NM_001127222.2(CACNA1A):c.5356G>T (p.Ala1786Ser)
NM_001127222.2(CACNA1A):c.5401-13G>A rs2144622540
NM_001127222.2(CACNA1A):c.5408A>C (p.Asn1803Thr)
NM_001127222.2(CACNA1A):c.5416G>A (p.Val1806Ile)
NM_001127222.2(CACNA1A):c.5439T>G (p.Phe1813Leu) rs1600127242
NM_001127222.2(CACNA1A):c.5452C>G (p.Arg1818Gly) rs267606696
NM_001127222.2(CACNA1A):c.5458T>C (p.Ser1820Pro)
NM_001127222.2(CACNA1A):c.5473C>T (p.Pro1825Ser)
NM_001127222.2(CACNA1A):c.5477A>G (p.His1826Arg) rs2055610097
NM_001127222.2(CACNA1A):c.5484G>A (p.Leu1828=) rs2055609637
NM_001127222.2(CACNA1A):c.548C>T (p.Ala183Val)
NM_001127222.2(CACNA1A):c.5498G>A (p.Arg1833His)
NM_001127222.2(CACNA1A):c.5498G>C (p.Arg1833Pro)
NM_001127222.2(CACNA1A):c.5506G>A (p.Ala1836Thr)
NM_001127222.2(CACNA1A):c.5509G>A (p.Glu1837Lys) rs1408989522
NM_001127222.2(CACNA1A):c.5521G>C (p.Ala1841Pro) rs753229469
NM_001127222.2(CACNA1A):c.5529-1180G>A rs2055560379
NM_001127222.2(CACNA1A):c.5529-1185G>C
NM_001127222.2(CACNA1A):c.5529-1189C>T rs2055560659
NM_001127222.2(CACNA1A):c.5529-1191C>T
NM_001127222.2(CACNA1A):c.5529-1204G>A rs2144616611
NM_001127222.2(CACNA1A):c.5529-1210G>A rs1001063428
NM_001127222.2(CACNA1A):c.5529-1218C>T
NM_001127222.2(CACNA1A):c.5529-1219C>A
NM_001127222.2(CACNA1A):c.5529-1225A>G rs1432354078
NM_001127222.2(CACNA1A):c.5529-1230G>A rs1246077018
NM_001127222.2(CACNA1A):c.5529-1231C>G
NM_001127222.2(CACNA1A):c.5529-1240A>G
NM_001127222.2(CACNA1A):c.5529-1246A>G rs2144616837
NM_001127222.2(CACNA1A):c.5529-1248A>G rs2055563143
NM_001127222.2(CACNA1A):c.5529-1249G>T
NM_001127222.2(CACNA1A):c.5529-1254A>T rs1568440462
NM_001127222.2(CACNA1A):c.5529-1263G>A rs770936656
NM_001127222.2(CACNA1A):c.5529-1263G>T rs770936656
NM_001127222.2(CACNA1A):c.55G>A (p.Ala19Thr) rs923359230
NM_001127222.2(CACNA1A):c.560C>T (p.Thr187Met) rs1015798325
NM_001127222.2(CACNA1A):c.562G>C (p.Glu188Gln) rs2059326934
NM_001127222.2(CACNA1A):c.5638A>C (p.Met1880Leu)
NM_001127222.2(CACNA1A):c.5642_5692del (p.Asp1881_Met1897del)
NM_001127222.2(CACNA1A):c.5653G>A (p.Ala1885Thr)
NM_001127222.2(CACNA1A):c.5690T>G (p.Met1897Arg) rs2144595037
NM_001127222.2(CACNA1A):c.5695C>G (p.Leu1899Val) rs2055369392
NM_001127222.2(CACNA1A):c.5698A>G (p.Ile1900Val)
NM_001127222.2(CACNA1A):c.56C>A (p.Ala19Glu)
NM_001127222.2(CACNA1A):c.5700C>G (p.Ile1900Met)
NM_001127222.2(CACNA1A):c.5731G>A (p.Gly1911Arg) rs751603485
NM_001127222.2(CACNA1A):c.5755G>A (p.Asp1919Asn) rs1064794441
NM_001127222.2(CACNA1A):c.5761G>A (p.Glu1921Lys) rs2144537759
NM_001127222.2(CACNA1A):c.5771A>C (p.Lys1924Thr) rs1181667215
NM_001127222.2(CACNA1A):c.5778G>A (p.Met1926Ile) rs1252683687
NM_001127222.2(CACNA1A):c.5779A>T (p.Met1927Leu) rs775982911
NM_001127222.2(CACNA1A):c.5794A>G (p.Asn1932Asp)
NM_001127222.2(CACNA1A):c.5803C>A (p.Gln1935Lys) rs2144537491
NM_001127222.2(CACNA1A):c.5809A>T (p.Thr1937Ser)
NM_001127222.2(CACNA1A):c.581T>C (p.Leu194Pro)
NM_001127222.2(CACNA1A):c.5839+6A>C rs2144537255
NM_001127222.2(CACNA1A):c.5840-3C>A
NM_001127222.2(CACNA1A):c.5857G>A (p.Gly1953Arg) rs2144536064
NM_001127222.2(CACNA1A):c.5861A>G (p.Lys1954Arg)
NM_001127222.2(CACNA1A):c.5869G>A (p.Ala1957Thr) rs1217161285
NM_001127222.2(CACNA1A):c.5876T>C (p.Met1959Thr) rs763611434
NM_001127222.2(CACNA1A):c.589G>A (p.Val197Ile) rs1005884911
NM_001127222.2(CACNA1A):c.5924C>A (p.Ala1975Asp)
NM_001127222.2(CACNA1A):c.5930G>A (p.Arg1977His) rs1057521547
NM_001127222.2(CACNA1A):c.5940+6C>T rs909499550
NM_001127222.2(CACNA1A):c.5944C>T (p.Arg1982Trp)
NM_001127222.2(CACNA1A):c.5948C>T (p.Thr1983Ile) rs947850652
NM_001127222.2(CACNA1A):c.5953C>A (p.Leu1985Ile)
NM_001127222.2(CACNA1A):c.5953C>G (p.Leu1985Val)
NM_001127222.2(CACNA1A):c.5957T>C (p.Met1986Thr) rs2144526659
NM_001127222.2(CACNA1A):c.596T>C (p.Val199Ala)
NM_001127222.2(CACNA1A):c.5984C>T (p.Pro1995Leu) rs1568424203
NM_001127222.2(CACNA1A):c.5994A>C (p.Glu1998Asp) rs16045
NM_001127222.2(CACNA1A):c.5994_5996dup (p.Gly2000dup) rs2054858852
NM_001127222.2(CACNA1A):c.59C>T (p.Ala20Val)
NM_001127222.2(CACNA1A):c.601C>T (p.Arg201Trp) rs2144559282
NM_001127222.2(CACNA1A):c.6026C>A (p.Thr2009Asn) rs776574979
NM_001127222.2(CACNA1A):c.602G>A (p.Arg201Gln) rs2059326410
NM_001127222.2(CACNA1A):c.6035A>G (p.Asp2012Gly) rs2144526083
NM_001127222.2(CACNA1A):c.6051-3C>A rs1318280840
NM_001127222.2(CACNA1A):c.6058C>T (p.His2020Tyr) rs2144525195
NM_001127222.2(CACNA1A):c.6065G>A (p.Ser2022Asn) rs2144525162
NM_001127222.2(CACNA1A):c.6067G>C (p.Gly2023Arg)
NM_001127222.2(CACNA1A):c.6067G>T (p.Gly2023Cys) rs574805525
NM_001127222.2(CACNA1A):c.6073A>C (p.Lys2025Gln) rs2144525077
NM_001127222.2(CACNA1A):c.6079A>G (p.Ser2027Gly) rs2054851950
NM_001127222.2(CACNA1A):c.6113T>C (p.Met2038Thr)
NM_001127222.2(CACNA1A):c.611A>G (p.Lys204Arg) rs2144559219
NM_001127222.2(CACNA1A):c.6137G>T (p.Ser2046Ile)
NM_001127222.2(CACNA1A):c.6149G>T (p.Gly2050Val) rs2054848687
NM_001127222.2(CACNA1A):c.6158C>A (p.Thr2053Asn)
NM_001127222.2(CACNA1A):c.616G>A (p.Val206Met) rs2144559196
NM_001127222.2(CACNA1A):c.6172A>G (p.Ser2058Gly)
NM_001127222.2(CACNA1A):c.6173G>C (p.Ser2058Thr) rs1600089299
NM_001127222.2(CACNA1A):c.6181A>C (p.Asn2061His) rs974724726
NM_001127222.2(CACNA1A):c.6188A>G (p.Gln2063Arg)
NM_001127222.2(CACNA1A):c.6189+10_6189+65del
NM_001127222.2(CACNA1A):c.6189+3G>A
NM_001127222.2(CACNA1A):c.6189+4C>A rs2054846468
NM_001127222.2(CACNA1A):c.6189+6T>C
NM_001127222.2(CACNA1A):c.6190-8C>T
NM_001127222.2(CACNA1A):c.6199A>G (p.Met2067Val)
NM_001127222.2(CACNA1A):c.6202C>G (p.Arg2068Gly) rs779221807
NM_001127222.2(CACNA1A):c.6205G>A (p.Glu2069Lys) rs543458967
NM_001127222.2(CACNA1A):c.620C>T (p.Ser207Phe)
NM_001127222.2(CACNA1A):c.6230A>T (p.Asp2077Val) rs2144523108
NM_001127222.2(CACNA1A):c.6233G>A (p.Ser2078Asn)
NM_001127222.2(CACNA1A):c.623G>C (p.Gly208Ala) rs2144559143
NM_001127222.2(CACNA1A):c.6240C>G (p.His2080Gln) rs2054835310
NM_001127222.2(CACNA1A):c.6247C>T (p.Pro2083Ser) rs1244966977
NM_001127222.2(CACNA1A):c.6250A>G (p.Met2084Val) rs1451713531
NM_001127222.2(CACNA1A):c.6263G>C (p.Gly2088Ala) rs759252101
NM_001127222.2(CACNA1A):c.6275C>A (p.Ser2092Tyr) rs2144522850
NM_001127222.2(CACNA1A):c.6284G>A (p.Arg2095His)
NM_001127222.2(CACNA1A):c.6292G>C (p.Ala2098Pro) rs2144522708
NM_001127222.2(CACNA1A):c.6303+3G>A
NM_001127222.2(CACNA1A):c.6303+5G>A
NM_001127222.2(CACNA1A):c.6304-13G>A
NM_001127222.2(CACNA1A):c.6305G>A (p.Arg2102Lys) rs866974416
NM_001127222.2(CACNA1A):c.631+4C>T rs1568581241
NM_001127222.2(CACNA1A):c.631+5G>A rs786200963
NM_001127222.2(CACNA1A):c.6317G>T (p.Arg2106Leu) rs373229577
NM_001127222.2(CACNA1A):c.632-3C>T
NM_001127222.2(CACNA1A):c.6322C>A (p.Arg2108Ser) rs758498629
NM_001127222.2(CACNA1A):c.6322C>T (p.Arg2108Cys)
NM_001127222.2(CACNA1A):c.6323G>A (p.Arg2108His) rs867865729
NM_001127222.2(CACNA1A):c.6339+4T>C rs2054775532
NM_001127222.2(CACNA1A):c.6339+4T>G
NM_001127222.2(CACNA1A):c.6339+5G>C rs2144513372
NM_001127222.2(CACNA1A):c.6340-17C>T
NM_001127222.2(CACNA1A):c.6340A>G (p.Thr2114Ala)
NM_001127222.2(CACNA1A):c.6340A>T (p.Thr2114Ser) rs2054722290
NM_001127222.2(CACNA1A):c.6343_6345dup (p.Ile2115dup) rs2144506658
NM_001127222.2(CACNA1A):c.6358C>T (p.Pro2120Ser) rs2054721635
NM_001127222.2(CACNA1A):c.6361A>T (p.Met2121Leu) rs1317004203
NM_001127222.2(CACNA1A):c.6367C>T (p.Arg2123Cys) rs1255940553
NM_001127222.2(CACNA1A):c.6368G>A (p.Arg2123His) rs1220294928
NM_001127222.2(CACNA1A):c.6384G>A (p.Leu2128=)
NM_001127222.2(CACNA1A):c.6385G>C (p.Gly2129Arg) rs1369133711
NM_001127222.2(CACNA1A):c.6408C>A (p.Asp2136Glu)
NM_001127222.2(CACNA1A):c.6409G>A (p.Asp2137Asn) rs755880731
NM_001127222.2(CACNA1A):c.6419T>G (p.Leu2140Arg)
NM_001127222.2(CACNA1A):c.6424C>T (p.Arg2142Trp)
NM_001127222.2(CACNA1A):c.6425G>A (p.Arg2142Gln) rs1268148205
NM_001127222.2(CACNA1A):c.6436GAG[1] (p.Glu2147del)
NM_001127222.2(CACNA1A):c.643G>A (p.Val215Ile) rs1555774867
NM_001127222.2(CACNA1A):c.6448C>G (p.Arg2150Gly) rs756780624
NM_001127222.2(CACNA1A):c.6452_6463del (p.His2151_Arg2154del) rs1469809752
NM_001127222.2(CACNA1A):c.6462_6494del (p.Arg2155_Arg2165del)
NM_001127222.2(CACNA1A):c.6464G>A (p.Arg2155His) rs572722130
NM_001127222.2(CACNA1A):c.6473G>T (p.Arg2158Leu)
NM_001127222.2(CACNA1A):c.6478C>T (p.His2160Tyr)
NM_001127222.2(CACNA1A):c.6484G>A (p.Ala2162Thr) rs17846928
NM_001127222.2(CACNA1A):c.64G>A (p.Gly22Arg)
NM_001127222.2(CACNA1A):c.6503G>C (p.Gly2168Ala)
NM_001127222.2(CACNA1A):c.6505C>G (p.Arg2169Gly) rs375354077
NM_001127222.2(CACNA1A):c.6512C>T (p.Thr2171Ile)
NM_001127222.2(CACNA1A):c.6514G>A (p.Asp2172Asn) rs370289732
NM_001127222.2(CACNA1A):c.6514G>T (p.Asp2172Tyr) rs370289732
NM_001127222.2(CACNA1A):c.6523A>C (p.Thr2175Pro)
NM_001127222.2(CACNA1A):c.6527-7G>A rs1555730686
NM_001127222.2(CACNA1A):c.6527G>A (p.Gly2176Asp)
NM_001127222.2(CACNA1A):c.6542T>C (p.Leu2181Pro) rs2144502972
NM_001127222.2(CACNA1A):c.6544A>T (p.Ser2182Cys)
NM_001127222.2(CACNA1A):c.6557A>T (p.Gln2186Leu)
NM_001127222.2(CACNA1A):c.655A>T (p.Ile219Phe) rs2059190992
NM_001127222.2(CACNA1A):c.6561C>A (p.Ser2187=) rs371116746
NM_001127222.2(CACNA1A):c.6565G>A (p.Asp2189Asn) rs2144502827
NM_001127222.2(CACNA1A):c.6565del (p.Asp2189fs)
NM_001127222.2(CACNA1A):c.6572C>A (p.Pro2191Gln)
NM_001127222.2(CACNA1A):c.6584G>T (p.Arg2195Leu) rs373192655
NM_001127222.2(CACNA1A):c.6587_6598dup (p.Arg2199_Gly2200insAspGlnGluArg)
NM_001127222.2(CACNA1A):c.658A>G (p.Met220Val)
NM_001127222.2(CACNA1A):c.6590_6601dup (p.Gly2200_Arg2201insGlnGluArgGly)
NM_001127222.2(CACNA1A):c.6591G>T (p.Gln2197His) rs2054692765
NM_001127222.2(CACNA1A):c.6599G>C (p.Gly2200Ala) rs1163864338
NM_001127222.2(CACNA1A):c.65G>A (p.Gly22Glu) rs1983011989
NM_001127222.2(CACNA1A):c.65G>C (p.Gly22Ala) rs1983011989
NM_001127222.2(CACNA1A):c.6609G>C (p.Lys2203Asn) rs1276672646
NM_001127222.2(CACNA1A):c.6613C>G (p.Arg2205Gly) rs780467849
NM_001127222.2(CACNA1A):c.6613C>T (p.Arg2205Trp) rs780467849
NM_001127222.2(CACNA1A):c.6622C>G (p.Arg2208Gly)
NM_001127222.2(CACNA1A):c.6623_6628dup (p.Arg2208_Gln2209dup) rs1247003992
NM_001127222.2(CACNA1A):c.6623_6631dup (p.Arg2208_His2210dup) rs1305974321
NM_001127222.2(CACNA1A):c.6627G>C (p.Gln2209His)
NM_001127222.2(CACNA1A):c.6627dup (p.His2210fs) rs1568419053
NM_001127222.2(CACNA1A):c.6630C>G (p.His2210Gln) rs1006425986
NM_001127222.2(CACNA1A):c.6630CCA[7] (p.His2218_His2219del) rs759331923
NM_001127222.2(CACNA1A):c.6633C>G (p.His2211Gln) rs775606907
NM_001127222.2(CACNA1A):c.6634C>G (p.His2212Asp)
NM_001127222.2(CACNA1A):c.6640C>A (p.His2214Asn) rs905447472
NM_001127222.2(CACNA1A):c.6641A>G (p.His2214Arg) rs1600079735
NM_001127222.2(CACNA1A):c.6647_6658del (p.His2216_His2219del) rs770368215
NM_001127222.2(CACNA1A):c.6649C>T (p.His2217Tyr) rs2054687055
NM_001127222.2(CACNA1A):c.6650A>T (p.His2217Leu) rs2054686938
NM_001127222.2(CACNA1A):c.6650_6658del (p.His2217_His2219del) rs776181081
NM_001127222.2(CACNA1A):c.6652C>T (p.His2218Tyr)
NM_001127222.2(CACNA1A):c.6652_6653insCCCACC (p.His2217_His2218insProHis)
NM_001127222.2(CACNA1A):c.6655C>A (p.His2219Asn) rs1307304917
NM_001127222.2(CACNA1A):c.6656_6657delinsCC (p.His2219Pro) rs1085307607
NM_001127222.2(CACNA1A):c.6656_6658del (p.His2219del) rs749638821
NM_001127222.2(CACNA1A):c.6658_6659insACCACC (p.His2219_Pro2220insHisHis)
NM_001127222.2(CACNA1A):c.6659ACC[3] (p.His2217_His2219dup) rs768950814
NM_001127222.2(CACNA1A):c.6659ACC[6] (p.His2219_Pro2220insHisHisHisHisHisHis)
NM_001127222.2(CACNA1A):c.6659C>A (p.Pro2220His) rs16052
NM_001127222.2(CACNA1A):c.6664C>T (p.Pro2222Ser)
NM_001127222.2(CACNA1A):c.6670G>A (p.Asp2224Asn)
NM_001127222.2(CACNA1A):c.6678C>A (p.Asp2226Glu) rs1181604906
NM_001127222.2(CACNA1A):c.6679C>A (p.Arg2227Ser)
NM_001127222.2(CACNA1A):c.6680G>A (p.Arg2227His) rs1064793075
NM_001127222.2(CACNA1A):c.6680G>T (p.Arg2227Leu) rs1064793075
NM_001127222.2(CACNA1A):c.6686C>G (p.Ala2229Gly)
NM_001127222.2(CACNA1A):c.6689A>G (p.Gln2230Arg) rs936533797
NM_001127222.2(CACNA1A):c.6696_6697delinsTT (p.Pro2233Ser)
NM_001127222.2(CACNA1A):c.6697C>T (p.Pro2233Ser)
NM_001127222.2(CACNA1A):c.6701A>T (p.Asp2234Val)
NM_001127222.2(CACNA1A):c.6703C>G (p.His2235Asp)
NM_001127222.2(CACNA1A):c.6703C>T (p.His2235Tyr) rs903913051
NM_001127222.2(CACNA1A):c.6704A>G (p.His2235Arg) rs758639263
NM_001127222.2(CACNA1A):c.6706G>T (p.Gly2236Cys) rs752808137
NM_001127222.2(CACNA1A):c.6784_6788del (p.Ser2262fs)
NM_001127222.2(CACNA1A):c.6785G>A (p.Ser2262Asn) rs2054633316
NM_001127222.2(CACNA1A):c.685A>G (p.Ile229Val) rs2059190527
NM_001127222.2(CACNA1A):c.698T>C (p.Leu233Pro) rs2059190252
NM_001127222.2(CACNA1A):c.712_726dup (p.Leu238_Ile242dup) rs1568574602
NM_001127222.2(CACNA1A):c.760A>G (p.Thr254Ala) rs2059189603
NM_001127222.2(CACNA1A):c.767G>T (p.Cys256Phe) rs2059189489
NM_001127222.2(CACNA1A):c.76G>T (p.Gly26Cys)
NM_001127222.2(CACNA1A):c.773A>C (p.Glu258Ala) rs2059189452
NM_001127222.2(CACNA1A):c.784+4G>A
NM_001127222.2(CACNA1A):c.784G>C (p.Asp262His)
NM_001127222.2(CACNA1A):c.785-3T>C rs2145245902
NM_001127222.2(CACNA1A):c.788A>T (p.Asp263Val) rs2059070159
NM_001127222.2(CACNA1A):c.79A>G (p.Ser27Gly)
NM_001127222.2(CACNA1A):c.7C>G (p.Arg3Gly) rs1326606155
NM_001127222.2(CACNA1A):c.800A>G (p.Glu267Gly)
NM_001127222.2(CACNA1A):c.806C>T (p.Pro269Leu) rs763911399
NM_001127222.2(CACNA1A):c.80G>T (p.Ser27Ile)
NM_001127222.2(CACNA1A):c.832G>A (p.Ala278Thr) rs1013100046
NM_001127222.2(CACNA1A):c.835C>A (p.Arg279Ser)
NM_001127222.2(CACNA1A):c.8G>A (p.Arg3His)
NM_001127222.2(CACNA1A):c.938A>G (p.Gln313Arg)
NM_001127222.2(CACNA1A):c.967C>G (p.Leu323Val)
NM_001127222.2(CACNA1A):c.97G>T (p.Ala33Ser) rs749474997

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