ClinVar Miner

List of variants studied for Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1842
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HGVS dbSNP gnomAD frequency
NM_000069.3(CACNA1S):c.4113+7T>C rs6702590 0.77496
NM_000069.3(CACNA1S):c.1828-5T>C rs1998721 0.71016
NM_000069.3(CACNA1S):c.1551T>C (p.Gly517=) rs4915477 0.70571
NM_000069.3(CACNA1S):c.2403T>C (p.Phe801=) rs7415038 0.43715
NM_000069.3(CACNA1S):c.597C>T (p.Ile199=) rs2296383 0.32034
NM_000069.3(CACNA1S):c.1515T>C (p.Cys505=) rs9427714 0.24503
NM_000069.3(CACNA1S):c.5399T>C (p.Leu1800Ser) rs12139527 0.24484
NM_000069.3(CACNA1S):c.1373T>A (p.Leu458His) rs12742169 0.24315
NM_000069.3(CACNA1S):c.1564C>T (p.Leu522=) rs4915476 0.23047
NM_000069.3(CACNA1S):c.1371T>G (p.Pro457=) rs12742170 0.22856
NM_000069.3(CACNA1S):c.4543+7G>A rs2297905 0.19414
NM_000069.3(CACNA1S):c.4973G>A (p.Arg1658His) rs13374149 0.11390
NM_000069.3(CACNA1S):c.4860C>T (p.Pro1620=) rs41267497 0.10778
NM_000069.3(CACNA1S):c.1491C>T (p.Asn497=) rs16847674 0.09605
NM_000069.3(CACNA1S):c.4615C>T (p.Arg1539Cys) rs3850625 0.08709
NM_000069.3(CACNA1S):c.2746-14C>T rs113792034 0.03828
NM_000069.3(CACNA1S):c.206C>G (p.Ala69Gly) rs12406479 0.03481
NM_000069.3(CACNA1S):c.2673C>T (p.Ser891=) rs16847623 0.02892
NM_000069.3(CACNA1S):c.1548G>A (p.Ser516=) rs16847669 0.02707
NM_000069.3(CACNA1S):c.1393+7C>T rs3767512 0.02512
NM_000069.3(CACNA1S):c.2063+7G>T rs79984703 0.02430
NM_000069.3(CACNA1S):c.2748C>T (p.His916=) rs2297902 0.02034
NM_000069.3(CACNA1S):c.3822C>T (p.Ile1274=) rs56183942 0.01893
NM_000069.3(CACNA1S):c.858C>T (p.Tyr286=) rs61734621 0.01658
NM_000069.3(CACNA1S):c.3796-9G>A rs142184434 0.01603
NM_000069.3(CACNA1S):c.3525+18C>T rs56021911 0.01583
NM_000069.3(CACNA1S):c.3053+13T>C rs41267501 0.01237
NM_000069.3(CACNA1S):c.3953+6C>T rs115707724 0.01059
NM_000069.3(CACNA1S):c.2480T>C (p.Met827Thr) rs61238538 0.01045
NM_000069.3(CACNA1S):c.1817G>A (p.Ser606Asn) rs142356235 0.00873
NM_000069.3(CACNA1S):c.895T>C (p.Tyr299His) rs35856559 0.00797
NM_000069.3(CACNA1S):c.2361-13C>T rs2182117 0.00658
NM_000069.3(CACNA1S):c.1995C>T (p.Ala665=) rs16847664 0.00657
NM_000069.3(CACNA1S):c.3811G>A (p.Ala1271Thr) rs138144724 0.00615
NM_000069.3(CACNA1S):c.399-14C>T rs116534514 0.00590
NM_000069.3(CACNA1S):c.4668+19T>C rs140742077 0.00573
NM_000069.3(CACNA1S):c.252C>T (p.Leu84=) rs112868209 0.00555
NM_000069.3(CACNA1S):c.2784C>T (p.Ile928=) rs143483718 0.00479
NM_000069.3(CACNA1S):c.2745+14C>T rs74138824 0.00464
NM_000069.3(CACNA1S):c.4053A>G (p.Thr1351=) rs13376324 0.00448
NM_000069.3(CACNA1S):c.3953+7G>A rs141071505 0.00409
NM_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser) rs145910245 0.00349
NM_000069.3(CACNA1S):c.383C>G (p.Thr128Ser) rs139491817 0.00246
NM_000069.3(CACNA1S):c.5515C>T (p.Pro1839Ser) rs149547196 0.00241
NM_000069.3(CACNA1S):c.5134+8C>T rs114243233 0.00238
NM_000069.3(CACNA1S):c.2227+15G>A rs192276596 0.00236
NM_000069.3(CACNA1S):c.1711G>A (p.Val571Ile) rs114191482 0.00228
NM_000069.3(CACNA1S):c.5570G>A (p.Ser1857Asn) rs72749169 0.00210
NM_000069.3(CACNA1S):c.2992G>A (p.Asp998Asn) rs116347156 0.00172
NM_000069.3(CACNA1S):c.4686T>C (p.Ile1562=) rs138423302 0.00170
NM_000069.3(CACNA1S):c.2440G>A (p.Ala814Thr) rs139956524 0.00135
NM_000069.3(CACNA1S):c.5371-19C>T rs201064986 0.00121
NM_000069.3(CACNA1S):c.3795+3G>A rs191758096 0.00113
NM_000069.3(CACNA1S):c.165G>A (p.Thr55=) rs150520884 0.00100
NM_000069.3(CACNA1S):c.1452C>T (p.Tyr484=) rs144206959 0.00097
NM_000069.3(CACNA1S):c.5370+10G>A rs368138384 0.00096
NM_000069.3(CACNA1S):c.900+14C>T rs377170574 0.00093
NM_000069.3(CACNA1S):c.2259G>A (p.Pro753=) rs200971359 0.00088
NM_000069.3(CACNA1S):c.2601C>T (p.Tyr867=) rs34374418 0.00076
NM_000069.3(CACNA1S):c.4114-8T>C rs373675720 0.00076
NM_000069.3(CACNA1S):c.4338+13G>T rs370782181 0.00075
NM_000069.3(CACNA1S):c.3425A>C (p.Gln1142Pro) rs139373152 0.00073
NM_000069.3(CACNA1S):c.5087C>T (p.Thr1696Met) rs367577681 0.00070
NM_000069.3(CACNA1S):c.2430G>C (p.Leu810=) rs146230812 0.00062
NM_000069.3(CACNA1S):c.3796-11C>T rs369565379 0.00061
NM_000069.3(CACNA1S):c.1948+10C>G rs201173419 0.00059
NM_000069.3(CACNA1S):c.5049-2A>G rs148989517 0.00056
NM_000069.3(CACNA1S):c.369T>C (p.Asn123=) rs148680317 0.00055
NM_000069.3(CACNA1S):c.345C>T (p.Asp115=) rs144218745 0.00054
NM_000069.3(CACNA1S):c.1506C>T (p.Phe502=) rs141808465 0.00053
NM_000069.3(CACNA1S):c.3628G>A (p.Gly1210Arg) rs148870919 0.00053
NM_000069.3(CACNA1S):c.4339-14G>A rs200570483 0.00051
NM_000069.3(CACNA1S):c.1112C>T (p.Thr371Met) rs150954040 0.00049
NM_000069.3(CACNA1S):c.1301T>C (p.Phe434Ser) rs146136274 0.00045
NM_000069.3(CACNA1S):c.4521C>T (p.Asp1507=) rs150962971 0.00038
NM_000069.3(CACNA1S):c.1382C>T (p.Thr461Ile) rs143202536 0.00032
NM_000069.3(CACNA1S):c.540T>C (p.Pro180=) rs138245131 0.00032
NM_000069.3(CACNA1S):c.1948+18G>A rs113175669 0.00031
NM_000069.3(CACNA1S):c.2957G>A (p.Arg986His) rs140453525 0.00031
NM_000069.3(CACNA1S):c.2361-11C>T rs376279583 0.00030
NM_000069.3(CACNA1S):c.542-13C>T rs199502458 0.00030
NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu) rs141204958 0.00029
NM_000069.3(CACNA1S):c.4114-3C>T rs182873269 0.00027
NM_000069.3(CACNA1S):c.4987A>G (p.Asn1663Asp) rs141618437 0.00027
NM_000069.3(CACNA1S):c.324C>T (p.Tyr108=) rs200487405 0.00026
NM_000069.3(CACNA1S):c.4747G>A (p.Glu1583Lys) rs148273582 0.00026
NM_000069.3(CACNA1S):c.2657+9C>T rs375784883 0.00025
NM_000069.3(CACNA1S):c.4972C>T (p.Arg1658Cys) rs147392278 0.00024
NM_000069.3(CACNA1S):c.3616C>T (p.Leu1206=) rs148105111 0.00023
NM_000069.3(CACNA1S):c.1670G>A (p.Arg557His) rs4915212 0.00022
NM_000069.3(CACNA1S):c.1890G>A (p.Pro630=) rs141717649 0.00022
NM_000069.3(CACNA1S):c.2657+10G>A rs371339601 0.00022
NM_000069.3(CACNA1S):c.1949-7C>T rs368564115 0.00021
NM_000069.3(CACNA1S):c.5510A>C (p.Glu1837Ala) rs200765341 0.00021
NM_000069.3(CACNA1S):c.743C>T (p.Thr248Met) rs200665694 0.00021
NM_000069.3(CACNA1S):c.3256-12T>A rs374335683 0.00019
NM_000069.3(CACNA1S):c.3334T>G (p.Trp1112Gly) rs151218760 0.00019
NM_000069.3(CACNA1S):c.1745G>C (p.Gly582Ala) rs377459546 0.00018
NM_000069.3(CACNA1S):c.2100G>A (p.Thr700=) rs774160640 0.00017
NM_000069.3(CACNA1S):c.3609C>T (p.Asp1203=) rs374324793 0.00017
NM_000069.3(CACNA1S):c.4883T>C (p.Leu1628Pro) rs576536458 0.00017
NM_000069.3(CACNA1S):c.1143C>T (p.Phe381=) rs144883479 0.00016
NM_000069.3(CACNA1S):c.1458G>A (p.Leu486=) rs528563981 0.00016
NM_000069.3(CACNA1S):c.1777C>T (p.Arg593Trp) rs138541733 0.00016
NM_000069.3(CACNA1S):c.2099C>T (p.Thr700Met) rs147112322 0.00016
NM_000069.3(CACNA1S):c.2490+5C>T rs369813191 0.00016
NM_000069.3(CACNA1S):c.258+6A>G rs376899610 0.00016
NM_000069.3(CACNA1S):c.2593C>T (p.Arg865Cys) rs201205904 0.00016
NM_000069.3(CACNA1S):c.262A>G (p.Lys88Glu) rs140330831 0.00016
NM_000069.3(CACNA1S):c.3777G>A (p.Thr1259=) rs147646714 0.00016
NM_000069.3(CACNA1S):c.4026G>A (p.Ser1342=) rs757432785 0.00016
NM_000069.3(CACNA1S):c.1903A>G (p.Met635Val) rs201784750 0.00015
NM_000069.3(CACNA1S):c.2853+16C>T rs374793204 0.00015
NM_000069.3(CACNA1S):c.4377C>T (p.Gly1459=) rs138189035 0.00015
NM_000069.3(CACNA1S):c.3287G>A (p.Arg1096His) rs142102094 0.00014
NM_000069.3(CACNA1S):c.4340G>A (p.Arg1447Gln) rs377474103 0.00014
NM_000069.3(CACNA1S):c.1465C>T (p.Arg489Cys) rs138364213 0.00013
NM_000069.3(CACNA1S):c.1945A>C (p.Asn649His) rs760246258 0.00013
NM_000069.3(CACNA1S):c.2658-9G>A rs367580345 0.00013
NM_000069.3(CACNA1S):c.2906+17G>A rs202089480 0.00013
NM_000069.3(CACNA1S):c.4176C>G (p.Ser1392=) rs200935259 0.00013
NM_000069.3(CACNA1S):c.4954C>T (p.Arg1652Cys) rs143933255 0.00013
NM_000069.3(CACNA1S):c.5008T>A (p.Tyr1670Asn) rs146696748 0.00013
NM_000069.3(CACNA1S):c.789C>A (p.Gly263=) rs368173398 0.00013
NM_000069.3(CACNA1S):c.93G>C (p.Leu31Phe) rs556751671 0.00013
NM_000069.3(CACNA1S):c.1948+13G>C rs538625530 0.00012
NM_000069.3(CACNA1S):c.2418G>A (p.Leu806=) rs182634146 0.00012
NM_000069.3(CACNA1S):c.2906+10G>T rs748231032 0.00012
NM_000069.3(CACNA1S):c.4916A>T (p.Glu1639Val) rs146885451 0.00012
NM_000069.3(CACNA1S):c.4995C>T (p.Asn1665=) rs183440052 0.00012
NM_000069.3(CACNA1S):c.1166A>T (p.Asp389Val) rs148770452 0.00011
NM_000069.3(CACNA1S):c.1256G>A (p.Arg419His) rs370861322 0.00011
NM_000069.3(CACNA1S):c.1669C>T (p.Arg557Cys) rs756612471 0.00011
NM_000069.3(CACNA1S):c.1818C>T (p.Ser606=) rs34025878 0.00011
NM_000069.3(CACNA1S):c.2296C>A (p.Leu766Met) rs771865391 0.00011
NM_000069.3(CACNA1S):c.2582G>C (p.Gly861Ala) rs369192794 0.00011
NM_000069.3(CACNA1S):c.2960A>G (p.His987Arg) rs201174511 0.00011
NM_000069.3(CACNA1S):c.3190G>A (p.Val1064Ile) rs138837077 0.00011
NM_000069.3(CACNA1S):c.3415-13G>T rs755431424 0.00011
NM_000069.3(CACNA1S):c.3905G>A (p.Arg1302Gln) rs200042281 0.00011
NM_000069.3(CACNA1S):c.4639C>T (p.Arg1547Trp) rs757433005 0.00011
NM_000069.3(CACNA1S):c.4818C>T (p.Gly1606=) rs146619460 0.00011
NM_000069.3(CACNA1S):c.4858C>G (p.Pro1620Ala) rs199691275 0.00011
NM_000069.3(CACNA1S):c.4996G>A (p.Ala1666Thr) rs145340252 0.00011
NM_000069.3(CACNA1S):c.5227-20C>T rs377205612 0.00011
NM_000069.3(CACNA1S):c.900+17G>A rs373839474 0.00011
NM_000069.3(CACNA1S):c.951C>T (p.Leu317=) rs773209639 0.00011
NM_000069.3(CACNA1S):c.1325T>C (p.Val442Ala) rs202217590 0.00010
NM_000069.3(CACNA1S):c.1395C>T (p.Asp465=) rs189129662 0.00010
NM_000069.3(CACNA1S):c.1949-6G>A rs373698107 0.00010
NM_000069.3(CACNA1S):c.2520C>T (p.Thr840=) rs147076871 0.00010
NM_000069.3(CACNA1S):c.2555C>T (p.Thr852Met) rs200334886 0.00010
NM_000069.3(CACNA1S):c.2658G>A (p.Glu886=) rs140924492 0.00010
NM_000069.3(CACNA1S):c.2963G>A (p.Arg988His) rs747618077 0.00010
NM_000069.3(CACNA1S):c.4718C>T (p.Thr1573Met) rs183195890 0.00010
NM_000069.3(CACNA1S):c.5299C>A (p.Pro1767Thr) rs200434921 0.00010
NM_000069.3(CACNA1S):c.5554G>A (p.Gly1852Arg) rs540721779 0.00010
NM_000069.3(CACNA1S):c.984G>T (p.Leu328=) rs367685667 0.00010
NM_000069.3(CACNA1S):c.1151-18T>C rs112628416 0.00009
NM_000069.3(CACNA1S):c.1348G>A (p.Ala450Thr) rs150218077 0.00009
NM_000069.3(CACNA1S):c.1592G>A (p.Arg531His) rs748711395 0.00009
NM_000069.3(CACNA1S):c.1881C>T (p.Tyr627=) rs145689664 0.00009
NM_000069.3(CACNA1S):c.1935C>T (p.Phe645=) rs550584336 0.00009
NM_000069.3(CACNA1S):c.2467C>T (p.Arg823Trp) rs199758244 0.00009
NM_000069.3(CACNA1S):c.3067G>A (p.Ala1023Thr) rs551510986 0.00009
NM_000069.3(CACNA1S):c.3126C>A (p.Ala1042=) rs748848750 0.00009
NM_000069.3(CACNA1S):c.3525+7del rs759199210 0.00009
NM_000069.3(CACNA1S):c.3657C>T (p.Cys1219=) rs376781102 0.00009
NM_000069.3(CACNA1S):c.3664G>A (p.Val1222Ile) rs202240111 0.00009
NM_000069.3(CACNA1S):c.3904C>T (p.Arg1302Trp) rs780390034 0.00009
NM_000069.3(CACNA1S):c.888C>T (p.Asp296=) rs775610804 0.00009
NM_000069.3(CACNA1S):c.2145C>T (p.Pro715=) rs532432558 0.00008
NM_000069.3(CACNA1S):c.2361-10G>A rs533238983 0.00008
NM_000069.3(CACNA1S):c.2628G>T (p.Val876=) rs200898535 0.00008
NM_000069.3(CACNA1S):c.4194C>T (p.His1398=) rs368919048 0.00008
NM_000069.3(CACNA1S):c.4679G>A (p.Arg1560Gln) rs372436488 0.00008
NM_000069.3(CACNA1S):c.4786G>A (p.Gly1596Arg) rs751048080 0.00008
NM_000069.3(CACNA1S):c.4962C>T (p.Asn1654=) rs370339547 0.00008
NM_000069.3(CACNA1S):c.1180G>A (p.Asp394Asn) rs112236248 0.00007
NM_000069.3(CACNA1S):c.1324G>A (p.Val442Ile) rs572977674 0.00007
NM_000069.3(CACNA1S):c.1619+9C>T rs372942667 0.00007
NM_000069.3(CACNA1S):c.1780C>T (p.Arg594Cys) rs200165212 0.00007
NM_000069.3(CACNA1S):c.3027G>A (p.Thr1009=) rs371818752 0.00007
NM_000069.3(CACNA1S):c.3143A>G (p.Tyr1048Cys) rs745571736 0.00007
NM_000069.3(CACNA1S):c.3429G>A (p.Ser1143=) rs373033092 0.00007
NM_000069.3(CACNA1S):c.3454A>G (p.Ile1152Val) rs142286187 0.00007
NM_000069.3(CACNA1S):c.3796-14C>T rs377210987 0.00007
NM_000069.3(CACNA1S):c.5592C>T (p.Ser1864=) rs751405561 0.00007
NM_000069.3(CACNA1S):c.700G>A (p.Val234Met) rs370661912 0.00007
NM_000069.3(CACNA1S):c.1345A>G (p.Ile449Val) rs369139165 0.00006
NM_000069.3(CACNA1S):c.1385G>A (p.Arg462His) rs146696298 0.00006
NM_000069.3(CACNA1S):c.1393+16G>A rs374866886 0.00006
NM_000069.3(CACNA1S):c.1619+10G>A rs374195664 0.00006
NM_000069.3(CACNA1S):c.1704C>A (p.Leu568=) rs201748367 0.00006
NM_000069.3(CACNA1S):c.1740C>T (p.Leu580=) rs749654014 0.00006
NM_000069.3(CACNA1S):c.1815C>T (p.Ile605=) rs757733492 0.00006
NM_000069.3(CACNA1S):c.1819G>A (p.Val607Ile) rs377461013 0.00006
NM_000069.3(CACNA1S):c.1885G>A (p.Gly629Arg) rs147888089 0.00006
NM_000069.3(CACNA1S):c.1904T>C (p.Met635Thr) rs144590408 0.00006
NM_000069.3(CACNA1S):c.2001G>A (p.Ala667=) rs61734612 0.00006
NM_000069.3(CACNA1S):c.208G>A (p.Val70Met) rs771706267 0.00006
NM_000069.3(CACNA1S):c.2376T>C (p.Cys792=) rs528604695 0.00006
NM_000069.3(CACNA1S):c.2468G>A (p.Arg823Gln) rs553619980 0.00006
NM_000069.3(CACNA1S):c.2491-20C>T rs200340608 0.00006
NM_000069.3(CACNA1S):c.2550+17G>A rs186271965 0.00006
NM_000069.3(CACNA1S):c.2630C>T (p.Ala877Val) rs200646947 0.00006
NM_000069.3(CACNA1S):c.2729G>A (p.Arg910Lys) rs375318710 0.00006
NM_000069.3(CACNA1S):c.2773A>G (p.Ile925Val) rs138708497 0.00006
NM_000069.3(CACNA1S):c.3026C>T (p.Thr1009Met) rs200224590 0.00006
NM_000069.3(CACNA1S):c.304G>A (p.Ala102Thr) rs753901380 0.00006
NM_000069.3(CACNA1S):c.3210G>A (p.Glu1070=) rs200893062 0.00006
NM_000069.3(CACNA1S):c.3256C>T (p.Arg1086Cys) rs80338782 0.00006
NM_000069.3(CACNA1S):c.3406G>A (p.Gly1136Ser) rs145039828 0.00006
NM_000069.3(CACNA1S):c.3606C>T (p.Ile1202=) rs189797100 0.00006
NM_000069.3(CACNA1S):c.3761G>A (p.Arg1254Gln) rs530655602 0.00006
NM_000069.3(CACNA1S):c.3796-13G>A rs374572342 0.00006
NM_000069.3(CACNA1S):c.3843C>T (p.Tyr1281=) rs371582901 0.00006
NM_000069.3(CACNA1S):c.3953+16C>T rs201874906 0.00006
NM_000069.3(CACNA1S):c.4414C>T (p.Arg1472Cys) rs201257304 0.00006
NM_000069.3(CACNA1S):c.4468C>T (p.Leu1490=) rs149036408 0.00006
NM_000069.3(CACNA1S):c.4669-11G>A rs376672151 0.00006
NM_000069.3(CACNA1S):c.4731C>G (p.Asp1577Glu) rs202120583 0.00006
NM_000069.3(CACNA1S):c.4752G>A (p.Leu1584=) rs763069723 0.00006
NM_000069.3(CACNA1S):c.4861G>A (p.Val1621Ile) rs756066219 0.00006
NM_000069.3(CACNA1S):c.5048+9G>A rs375072747 0.00006
NM_000069.3(CACNA1S):c.516C>T (p.Pro172=) rs779274568 0.00006
NM_000069.3(CACNA1S):c.5550C>A (p.Asn1850Lys) rs141556780 0.00006
NM_000069.3(CACNA1S):c.755G>A (p.Arg252His) rs766838790 0.00006
NM_000069.3(CACNA1S):c.834C>T (p.Phe278=) rs148625301 0.00006
NM_000069.3(CACNA1S):c.900+16C>T rs372464425 0.00006
NM_000069.3(CACNA1S):c.1091G>A (p.Arg364Gln) rs763360081 0.00005
NM_000069.3(CACNA1S):c.1314G>A (p.Val438=) rs146400205 0.00005
NM_000069.3(CACNA1S):c.1352C>T (p.Ser451Leu) rs35521793 0.00005
NM_000069.3(CACNA1S):c.1619+16G>A rs148454228 0.00005
NM_000069.3(CACNA1S):c.1828G>T (p.Val610Leu) rs756131999 0.00005
NM_000069.3(CACNA1S):c.1852T>G (p.Ser618Ala) rs149195094 0.00005
NM_000069.3(CACNA1S):c.1936G>A (p.Val646Ile) rs139860737 0.00005
NM_000069.3(CACNA1S):c.2439C>T (p.Ser813=) rs376863448 0.00005
NM_000069.3(CACNA1S):c.2726A>G (p.Asn909Ser) rs139935847 0.00005
NM_000069.3(CACNA1S):c.2877C>T (p.Asp959=) rs138328785 0.00005
NM_000069.3(CACNA1S):c.2974C>G (p.His992Asp) rs527520015 0.00005
NM_000069.3(CACNA1S):c.336C>G (p.Phe112Leu) rs374324813 0.00005
NM_000069.3(CACNA1S):c.398+3G>A rs764710968 0.00005
NM_000069.3(CACNA1S):c.3982A>G (p.Ile1328Val) rs777426409 0.00005
NM_000069.3(CACNA1S):c.4170C>G (p.Asp1390Glu) rs371849585 0.00005
NM_000069.3(CACNA1S):c.4525G>A (p.Val1509Ile) rs775885648 0.00005
NM_000069.3(CACNA1S):c.4572C>T (p.Tyr1524=) rs765581827 0.00005
NM_000069.3(CACNA1S):c.542G>C (p.Ser181Thr) rs1046958622 0.00005
NM_000069.3(CACNA1S):c.852C>T (p.Thr284=) rs372633174 0.00005
NM_000069.3(CACNA1S):c.909T>C (p.Asp303=) rs760398733 0.00005
NM_000069.3(CACNA1S):c.1151G>A (p.Gly384Glu) rs201737381 0.00004
NM_000069.3(CACNA1S):c.1393+13G>A rs368898958 0.00004
NM_000069.3(CACNA1S):c.1492C>T (p.Arg498Cys) rs532351874 0.00004
NM_000069.3(CACNA1S):c.152+9C>T rs202183450 0.00004
NM_000069.3(CACNA1S):c.1678G>A (p.Ala560Thr) rs763794604 0.00004
NM_000069.3(CACNA1S):c.1719C>T (p.Phe573=) rs759501199 0.00004
NM_000069.3(CACNA1S):c.1827+17C>T rs373219605 0.00004
NM_000069.3(CACNA1S):c.1948+11G>A rs199852936 0.00004
NM_000069.3(CACNA1S):c.2048G>A (p.Arg683His) rs141031133 0.00004
NM_000069.3(CACNA1S):c.2148C>T (p.Thr716=) rs747075757 0.00004
NM_000069.3(CACNA1S):c.2207A>T (p.Tyr736Phe) rs756870237 0.00004
NM_000069.3(CACNA1S):c.2217C>T (p.Ala739=) rs200379217 0.00004
NM_000069.3(CACNA1S):c.2218G>A (p.Asp740Asn) rs752513328 0.00004
NM_000069.3(CACNA1S):c.2380C>T (p.Arg794Cys) rs373328930 0.00004
NM_000069.3(CACNA1S):c.2453C>T (p.Ala818Val) rs372668776 0.00004
NM_000069.3(CACNA1S):c.2482A>G (p.Arg828Gly) rs1174225838 0.00004
NM_000069.3(CACNA1S):c.2632G>A (p.Val878Met) rs202131129 0.00004
NM_000069.3(CACNA1S):c.2667C>T (p.Ala889=) rs188071541 0.00004
NM_000069.3(CACNA1S):c.2754G>A (p.Val918=) rs150708636 0.00004
NM_000069.3(CACNA1S):c.2822T>C (p.Met941Thr) rs575247457 0.00004
NM_000069.3(CACNA1S):c.2835C>T (p.Ile945=) rs753072795 0.00004
NM_000069.3(CACNA1S):c.2839G>A (p.Val947Ile) rs76460090 0.00004
NM_000069.3(CACNA1S):c.2874C>T (p.Thr958=) rs200427762 0.00004
NM_000069.3(CACNA1S):c.2962C>T (p.Arg988Cys) rs143722841 0.00004
NM_000069.3(CACNA1S):c.297T>A (p.Ile99=) rs202132932 0.00004
NM_000069.3(CACNA1S):c.3090C>T (p.Asp1030=) rs766639108 0.00004
NM_000069.3(CACNA1S):c.3091G>A (p.Val1031Met) rs777328046 0.00004
NM_000069.3(CACNA1S):c.3286C>T (p.Arg1096Cys) rs781178565 0.00004
NM_000069.3(CACNA1S):c.3416A>C (p.His1139Pro) rs756628359 0.00004
NM_000069.3(CACNA1S):c.3696C>T (p.Ser1232=) rs570706043 0.00004
NM_000069.3(CACNA1S):c.3746G>A (p.Arg1249Gln) rs775009783 0.00004
NM_000069.3(CACNA1S):c.3796-19G>A rs369787862 0.00004
NM_000069.3(CACNA1S):c.3906G>T (p.Arg1302=) rs375189627 0.00004
NM_000069.3(CACNA1S):c.4250T>A (p.Ile1417Asn) rs372383822 0.00004
NM_000069.3(CACNA1S):c.4415G>A (p.Arg1472His) rs201463541 0.00004
NM_000069.3(CACNA1S):c.4437G>A (p.Thr1479=) rs200538716 0.00004
NM_000069.3(CACNA1S):c.4461C>T (p.Asn1487=) rs149668892 0.00004
NM_000069.3(CACNA1S):c.4543+4G>A rs776190353 0.00004
NM_000069.3(CACNA1S):c.454A>G (p.Met152Val) rs369332959 0.00004
NM_000069.3(CACNA1S):c.4668+6C>T rs752849401 0.00004
NM_000069.3(CACNA1S):c.4690G>A (p.Glu1564Lys) rs368421264 0.00004
NM_000069.3(CACNA1S):c.4705G>A (p.Glu1569Lys) rs138768414 0.00004
NM_000069.3(CACNA1S):c.471C>T (p.Ala157=) rs768664157 0.00004
NM_000069.3(CACNA1S):c.4882C>T (p.Leu1628Phe) rs200848930 0.00004
NM_000069.3(CACNA1S):c.490C>T (p.Leu164Phe) rs747238231 0.00004
NM_000069.3(CACNA1S):c.5049-6T>C rs372192645 0.00004
NM_000069.3(CACNA1S):c.5325T>C (p.Asn1775=) rs762606454 0.00004
NM_000069.3(CACNA1S):c.5370+7C>T rs571061537 0.00004
NM_000069.3(CACNA1S):c.5381G>A (p.Arg1794Gln) rs139945826 0.00004
NM_000069.3(CACNA1S):c.565A>G (p.Ile189Val) rs749551758 0.00004
NM_000069.3(CACNA1S):c.598G>A (p.Ala200Thr) rs527702358 0.00004
NM_000069.3(CACNA1S):c.619G>A (p.Val207Ile) rs767571919 0.00004
NM_000069.3(CACNA1S):c.784C>T (p.Arg262Trp) rs186538122 0.00004
NM_000069.3(CACNA1S):c.86G>A (p.Arg29Gln) rs758594181 0.00004
NM_000069.3(CACNA1S):c.87G>T (p.Arg29=) rs748352939 0.00004
NM_000069.3(CACNA1S):c.889G>A (p.Val297Ile) rs138205421 0.00004
NM_000069.3(CACNA1S):c.898T>C (p.Trp300Arg) rs370325121 0.00004
NM_000069.3(CACNA1S):c.900G>A (p.Trp300Ter) rs148317787 0.00004
NM_000069.3(CACNA1S):c.901-16C>A rs753250644 0.00004
NM_000069.3(CACNA1S):c.1290G>A (p.Lys430=) rs1241905770 0.00003
NM_000069.3(CACNA1S):c.1383C>G (p.Thr461=) rs144920422 0.00003
NM_000069.3(CACNA1S):c.1384C>T (p.Arg462Cys) rs747376751 0.00003
NM_000069.3(CACNA1S):c.1393+11A>T rs753604199 0.00003
NM_000069.3(CACNA1S):c.1393+18G>T rs199625342 0.00003
NM_000069.3(CACNA1S):c.1393+8G>A rs372197177 0.00003
NM_000069.3(CACNA1S):c.140T>A (p.Ile47Asn) rs372497364 0.00003
NM_000069.3(CACNA1S):c.1845C>T (p.Asp615=) rs200091030 0.00003
NM_000069.3(CACNA1S):c.1855A>G (p.Met619Val) rs776996468 0.00003
NM_000069.3(CACNA1S):c.2055G>C (p.Lys685Asn) rs200844059 0.00003
NM_000069.3(CACNA1S):c.2157G>A (p.Lys719=) rs889659456 0.00003
NM_000069.3(CACNA1S):c.2228-9T>C rs1030557258 0.00003
NM_000069.3(CACNA1S):c.225G>A (p.Pro75=) rs143816534 0.00003
NM_000069.3(CACNA1S):c.2381G>A (p.Arg794His) rs760674518 0.00003
NM_000069.3(CACNA1S):c.2415C>T (p.Ile805=) rs267598294 0.00003
NM_000069.3(CACNA1S):c.2562C>T (p.Tyr854=) rs373510147 0.00003
NM_000069.3(CACNA1S):c.2785G>A (p.Gly929Arg) rs146903750 0.00003
NM_000069.3(CACNA1S):c.2794G>A (p.Val932Met) rs373701906 0.00003
NM_000069.3(CACNA1S):c.2919C>T (p.Tyr973=) rs751043315 0.00003
NM_000069.3(CACNA1S):c.2928G>A (p.Lys976=) rs759359831 0.00003
NM_000069.3(CACNA1S):c.2956C>T (p.Arg986Cys) rs770099347 0.00003
NM_000069.3(CACNA1S):c.3013A>T (p.Met1005Leu) rs149658326 0.00003
NM_000069.3(CACNA1S):c.3039C>T (p.Phe1013=) rs139235699 0.00003
NM_000069.3(CACNA1S):c.3084G>A (p.Ala1028=) rs764100695 0.00003
NM_000069.3(CACNA1S):c.3113G>A (p.Arg1038His) rs774884290 0.00003
NM_000069.3(CACNA1S):c.3129C>A (p.Ile1043=) rs774801845 0.00003
NM_000069.3(CACNA1S):c.325G>A (p.Gly109Ser) rs764602257 0.00003
NM_000069.3(CACNA1S):c.3610-17G>A rs368357562 0.00003
NM_000069.3(CACNA1S):c.3667-5C>T rs368885124 0.00003
NM_000069.3(CACNA1S):c.3677A>G (p.Glu1226Gly) rs150164738 0.00003
NM_000069.3(CACNA1S):c.3796-20C>T rs543850144 0.00003
NM_000069.3(CACNA1S):c.3807C>T (p.Tyr1269=) rs990173222 0.00003
NM_000069.3(CACNA1S):c.3890G>A (p.Gly1297Glu) rs749856222 0.00003
NM_000069.3(CACNA1S):c.3983T>G (p.Ile1328Ser) rs142144624 0.00003
NM_000069.3(CACNA1S):c.4032T>C (p.Tyr1344=) rs138167275 0.00003
NM_000069.3(CACNA1S):c.409G>A (p.Val137Met) rs753195502 0.00003
NM_000069.3(CACNA1S):c.4436C>T (p.Thr1479Met) rs780785403 0.00003
NM_000069.3(CACNA1S):c.4522C>G (p.Gln1508Glu) rs970352258 0.00003
NM_000069.3(CACNA1S):c.4543+15G>A rs746717103 0.00003
NM_000069.3(CACNA1S):c.4776G>A (p.Ala1592=) rs752911523 0.00003
NM_000069.3(CACNA1S):c.482T>C (p.Val161Ala) rs141521945 0.00003
NM_000069.3(CACNA1S):c.5004C>T (p.Val1668=) rs140268231 0.00003
NM_000069.3(CACNA1S):c.5526G>A (p.Met1842Ile) rs374294701 0.00003
NM_000069.3(CACNA1S):c.588C>G (p.Leu196=) rs746654928 0.00003
NM_000069.3(CACNA1S):c.665T>A (p.Met222Lys) rs1287586310 0.00003
NM_000069.3(CACNA1S):c.670A>G (p.Lys224Glu) rs374763528 0.00003
NM_000069.3(CACNA1S):c.695-8G>A rs779849127 0.00003
NM_000069.3(CACNA1S):c.699C>T (p.Ile233=) rs756008578 0.00003
NM_000069.3(CACNA1S):c.785G>A (p.Arg262Gln) rs776311349 0.00003
NM_000069.3(CACNA1S):c.85C>T (p.Arg29Trp) rs577022740 0.00003
NM_000069.3(CACNA1S):c.865A>G (p.Ile289Val) rs139920212 0.00003
NM_000069.3(CACNA1S):c.915C>T (p.Ile305=) rs376517944 0.00003
NM_000069.3(CACNA1S):c.1044A>G (p.Gly348=) rs376276490 0.00002
NM_000069.3(CACNA1S):c.1060C>T (p.Arg354Trp) rs751247956 0.00002
NM_000069.3(CACNA1S):c.1113G>A (p.Thr371=) rs202245647 0.00002
NM_000069.3(CACNA1S):c.1120G>A (p.Glu374Lys) rs758280510 0.00002
NM_000069.3(CACNA1S):c.114C>A (p.Asn38Lys) rs756619964 0.00002
NM_000069.3(CACNA1S):c.1204G>T (p.Ala402Ser) rs756022224 0.00002
NM_000069.3(CACNA1S):c.120G>A (p.Leu40=) rs1420406971 0.00002
NM_000069.3(CACNA1S):c.1302C>T (p.Phe434=) rs1051111849 0.00002
NM_000069.3(CACNA1S):c.1305T>C (p.Tyr435=) rs763639897 0.00002
NM_000069.3(CACNA1S):c.1347C>T (p.Ile449=) rs754689047 0.00002
NM_000069.3(CACNA1S):c.1398T>C (p.Ile466=) rs750207191 0.00002
NM_000069.3(CACNA1S):c.1466G>A (p.Arg489His) rs553739117 0.00002
NM_000069.3(CACNA1S):c.1467C>T (p.Arg489=) rs1384040104 0.00002
NM_000069.3(CACNA1S):c.1519G>A (p.Gly507Ser) rs554729466 0.00002
NM_000069.3(CACNA1S):c.1530G>T (p.Glu510Asp) rs758354862 0.00002
NM_000069.3(CACNA1S):c.1531A>C (p.Ile511Leu) rs748021245 0.00002
NM_000069.3(CACNA1S):c.1582C>T (p.Arg528Cys) rs80338778 0.00002
NM_000069.3(CACNA1S):c.1591C>T (p.Arg531Cys) rs751671175 0.00002
NM_000069.3(CACNA1S):c.1619+15C>T rs771698501 0.00002
NM_000069.3(CACNA1S):c.1637G>A (p.Ser546Asn) rs373525085 0.00002
NM_000069.3(CACNA1S):c.1915A>G (p.Ile639Val) rs185777948 0.00002
NM_000069.3(CACNA1S):c.1948+1G>A rs745712829 0.00002
NM_000069.3(CACNA1S):c.1954C>T (p.Leu652=) rs781471427 0.00002
NM_000069.3(CACNA1S):c.1996G>A (p.Glu666Lys) rs377082783 0.00002
NM_000069.3(CACNA1S):c.2166C>T (p.Ile722=) rs369317595 0.00002
NM_000069.3(CACNA1S):c.2235C>T (p.Asp745=) rs754971473 0.00002
NM_000069.3(CACNA1S):c.2273C>T (p.Pro758Leu) rs759887262 0.00002
NM_000069.3(CACNA1S):c.2310C>T (p.Ala770=) rs113659687 0.00002
NM_000069.3(CACNA1S):c.2407A>G (p.Asn803Asp) rs561979536 0.00002
NM_000069.3(CACNA1S):c.2539A>G (p.Ile847Val) rs764821044 0.00002
NM_000069.3(CACNA1S):c.253G>A (p.Gly85Ser) rs369931782 0.00002
NM_000069.3(CACNA1S):c.259-14G>A rs762197754 0.00002
NM_000069.3(CACNA1S):c.2594G>A (p.Arg865His) rs545411173 0.00002
NM_000069.3(CACNA1S):c.2749G>A (p.Val917Met) rs751833750 0.00002
NM_000069.3(CACNA1S):c.2767G>A (p.Val923Met) rs571902899 0.00002
NM_000069.3(CACNA1S):c.2838C>T (p.Gly946=) rs759934490 0.00002
NM_000069.3(CACNA1S):c.2853+18C>T rs768391679 0.00002
NM_000069.3(CACNA1S):c.2853+6C>T rs376299130 0.00002
NM_000069.3(CACNA1S):c.2854-15T>G rs1405252446 0.00002
NM_000069.3(CACNA1S):c.2901G>A (p.Glu967=) rs745738564 0.00002
NM_000069.3(CACNA1S):c.303C>T (p.Ala101=) rs774035496 0.00002
NM_000069.3(CACNA1S):c.3053+19C>G rs372276351 0.00002
NM_000069.3(CACNA1S):c.3322C>G (p.Gln1108Glu) rs765685405 0.00002
NM_000069.3(CACNA1S):c.3331G>A (p.Val1111Met) rs200558548 0.00002
NM_000069.3(CACNA1S):c.3530A>T (p.Tyr1177Phe) rs774511818 0.00002
NM_000069.3(CACNA1S):c.3610-18C>T rs747616430 0.00002
NM_000069.3(CACNA1S):c.3666+18G>A rs367683228 0.00002
NM_000069.3(CACNA1S):c.3729G>A (p.Leu1243=) rs370688176 0.00002
NM_000069.3(CACNA1S):c.3745C>T (p.Arg1249Trp) rs762394267 0.00002
NM_000069.3(CACNA1S):c.3796-10C>T rs199678161 0.00002
NM_000069.3(CACNA1S):c.3888T>C (p.Asp1296=) rs769128110 0.00002
NM_000069.3(CACNA1S):c.4008G>A (p.Lys1336=) rs374426148 0.00002
NM_000069.3(CACNA1S):c.4023G>A (p.Glu1341=) rs753756026 0.00002
NM_000069.3(CACNA1S):c.4051A>G (p.Thr1351Ala) rs1251857483 0.00002
NM_000069.3(CACNA1S):c.4242-5C>T rs749316339 0.00002
NM_000069.3(CACNA1S):c.4264G>A (p.Val1422Met) rs1224786667 0.00002
NM_000069.3(CACNA1S):c.4441+3G>A rs886045795 0.00002
NM_000069.3(CACNA1S):c.4501A>G (p.Thr1501Ala) rs373248127 0.00002
NM_000069.3(CACNA1S):c.4502C>A (p.Thr1501Asn) rs928580339 0.00002
NM_000069.3(CACNA1S):c.4796G>A (p.Arg1599Gln) rs946904077 0.00002
NM_000069.3(CACNA1S):c.481G>A (p.Val161Ile) rs138265497 0.00002
NM_000069.3(CACNA1S):c.5135-14C>T rs762466711 0.00002
NM_000069.3(CACNA1S):c.5135-4A>G rs1388042700 0.00002
NM_000069.3(CACNA1S):c.5217C>T (p.Ala1739=) rs772010734 0.00002
NM_000069.3(CACNA1S):c.5237T>C (p.Val1746Ala) rs1187716461 0.00002
NM_000069.3(CACNA1S):c.5238G>A (p.Val1746=) rs374660431 0.00002
NM_000069.3(CACNA1S):c.5387G>A (p.Gly1796Asp) rs746407476 0.00002
NM_000069.3(CACNA1S):c.5437G>A (p.Ala1813Thr) rs777333498 0.00002
NM_000069.3(CACNA1S):c.556C>T (p.Leu186=) rs774618678 0.00002
NM_000069.3(CACNA1S):c.5575G>A (p.Asp1859Asn) rs191263754 0.00002
NM_000069.3(CACNA1S):c.702G>T (p.Val234=) rs752724350 0.00002
NM_000069.3(CACNA1S):c.707C>T (p.Thr236Met) rs767790285 0.00002
NM_000069.3(CACNA1S):c.708G>C (p.Thr236=) rs754213830 0.00002
NM_000069.3(CACNA1S):c.735C>T (p.Cys245=) rs768251314 0.00002
NM_000069.3(CACNA1S):c.757C>T (p.Arg253Trp) rs555596737 0.00002
NM_000069.3(CACNA1S):c.758G>A (p.Arg253Gln) rs768015104 0.00002
NM_000069.3(CACNA1S):c.764C>T (p.Thr255Ile) rs763637720 0.00002
NM_000069.3(CACNA1S):c.835G>A (p.Gly279Ser) rs375704313 0.00002
NM_000069.3(CACNA1S):c.862T>G (p.Cys288Gly) rs201585867 0.00002
NM_000069.3(CACNA1S):c.90C>G (p.Ala30=) rs779221524 0.00002
NM_000069.3(CACNA1S):c.1001G>C (p.Ser334Thr) rs1019448884 0.00001
NM_000069.3(CACNA1S):c.1004+20C>A rs751411574 0.00001
NM_000069.3(CACNA1S):c.1045A>G (p.Thr349Ala) rs752737494 0.00001
NM_000069.3(CACNA1S):c.1045A>T (p.Thr349Ser) rs752737494 0.00001
NM_000069.3(CACNA1S):c.106C>T (p.Leu36=) rs987261263 0.00001
NM_000069.3(CACNA1S):c.1132G>A (p.Val378Ile) rs577240103 0.00001
NM_000069.3(CACNA1S):c.1146A>G (p.Arg382=) rs1280543232 0.00001
NM_000069.3(CACNA1S):c.1150+14G>A rs776256379 0.00001
NM_000069.3(CACNA1S):c.1151-3C>T rs1661980696 0.00001
NM_000069.3(CACNA1S):c.1156C>T (p.Leu386=) rs575134797 0.00001
NM_000069.3(CACNA1S):c.1194G>A (p.Leu398=) rs200689828 0.00001
NM_000069.3(CACNA1S):c.1233-15T>C rs376591072 0.00001
NM_000069.3(CACNA1S):c.1233-1G>A rs760082356 0.00001
NM_000069.3(CACNA1S):c.1234C>T (p.Arg412Ter) rs767052156 0.00001
NM_000069.3(CACNA1S):c.1246C>T (p.Gln416Ter) rs1303215579 0.00001
NM_000069.3(CACNA1S):c.1254C>T (p.Asn418=) rs769532451 0.00001
NM_000069.3(CACNA1S):c.1323C>T (p.Ile441=) rs1236795297 0.00001
NM_000069.3(CACNA1S):c.1356G>A (p.Glu452=) rs760677210 0.00001
NM_000069.3(CACNA1S):c.1368G>A (p.Gln456=) rs767568799 0.00001
NM_000069.3(CACNA1S):c.1369C>T (p.Pro457Ser) rs372374492 0.00001
NM_000069.3(CACNA1S):c.1370C>T (p.Pro457Leu) rs1450678337 0.00001
NM_000069.3(CACNA1S):c.1461C>A (p.Gly487=) rs748760411 0.00001
NM_000069.3(CACNA1S):c.1497C>T (p.Phe499=) rs1309387978 0.00001
NM_000069.3(CACNA1S):c.1507G>A (p.Val503Met) rs140246559 0.00001
NM_000069.3(CACNA1S):c.1518C>T (p.Ser506=) rs780958897 0.00001
NM_000069.3(CACNA1S):c.1557G>A (p.Met519Ile) rs200066766 0.00001
NM_000069.3(CACNA1S):c.1558A>C (p.Thr520Pro) rs1182197306 0.00001
NM_000069.3(CACNA1S):c.1576G>A (p.Val526Met) rs557195329 0.00001
NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His) rs80338777 0.00001
NM_000069.3(CACNA1S):c.1583G>T (p.Arg528Leu) rs80338777 0.00001
NM_000069.3(CACNA1S):c.1611G>A (p.Lys537=) rs765888271 0.00001
NM_000069.3(CACNA1S):c.1628C>T (p.Thr543Met) rs777962341 0.00001
NM_000069.3(CACNA1S):c.1632G>A (p.Ser544=) rs774899299 0.00001
NM_000069.3(CACNA1S):c.1656G>A (p.Leu552=) rs755365324 0.00001
NM_000069.3(CACNA1S):c.1677C>T (p.Ile559=) rs372013296 0.00001
NM_000069.3(CACNA1S):c.1690C>T (p.Leu564=) rs964085624 0.00001
NM_000069.3(CACNA1S):c.1723C>T (p.Leu575Phe) rs772213240 0.00001
NM_000069.3(CACNA1S):c.1787A>G (p.Asn596Ser) rs376841055 0.00001
NM_000069.3(CACNA1S):c.1791T>C (p.Phe597=) rs200887343 0.00001
NM_000069.3(CACNA1S):c.1793A>T (p.Asp598Val) rs749475822 0.00001
NM_000069.3(CACNA1S):c.1827+6C>T rs202244301 0.00001
NM_000069.3(CACNA1S):c.1828-3C>T rs1445072481 0.00001
NM_000069.3(CACNA1S):c.1882G>A (p.Gly628Ser) rs768445692 0.00001
NM_000069.3(CACNA1S):c.1912T>A (p.Cys638Ser) rs766576671 0.00001
NM_000069.3(CACNA1S):c.1919A>G (p.Tyr640Cys) rs1347247620 0.00001
NM_000069.3(CACNA1S):c.1957C>T (p.Leu653Phe) rs757750396 0.00001
NM_000069.3(CACNA1S):c.1959C>G (p.Leu653=) rs1414491241 0.00001
NM_000069.3(CACNA1S):c.1A>G (p.Met1Val) rs201803122 0.00001
NM_000069.3(CACNA1S):c.2000C>T (p.Ala667Val) rs753183910 0.00001
NM_000069.3(CACNA1S):c.201C>T (p.Ala67=) rs1383561230 0.00001
NM_000069.3(CACNA1S):c.2064-20C>T rs373176654 0.00001
NM_000069.3(CACNA1S):c.209T>C (p.Val70Ala) rs747599178 0.00001
NM_000069.3(CACNA1S):c.2104G>T (p.Ala702Ser) rs1473781692 0.00001
NM_000069.3(CACNA1S):c.2142C>A (p.Ile714=) rs1057524027 0.00001
NM_000069.3(CACNA1S):c.2158-14G>A rs780867598 0.00001
NM_000069.3(CACNA1S):c.2164A>G (p.Ile722Val) rs774585202 0.00001
NM_000069.3(CACNA1S):c.2187C>T (p.Val729=) rs770255183 0.00001
NM_000069.3(CACNA1S):c.2229G>A (p.Gly743=) rs368154721 0.00001
NM_000069.3(CACNA1S):c.2245G>A (p.Glu749Lys) rs1313818230 0.00001
NM_000069.3(CACNA1S):c.224C>T (p.Pro75Leu) rs779684649 0.00001
NM_000069.3(CACNA1S):c.2269C>T (p.Arg757Ter) rs770073633 0.00001
NM_000069.3(CACNA1S):c.2275C>T (p.Arg759Cys) rs777247285 0.00001
NM_000069.3(CACNA1S):c.2280C>T (p.Pro760=) rs996079936 0.00001
NM_000069.3(CACNA1S):c.2281C>T (p.Leu761=) rs746563591 0.00001
NM_000069.3(CACNA1S):c.2289G>A (p.Glu763=) rs1427158400 0.00001
NM_000069.3(CACNA1S):c.2361-3C>T rs774194599 0.00001
NM_000069.3(CACNA1S):c.2365C>T (p.Arg789Cys) rs148895719 0.00001
NM_000069.3(CACNA1S):c.2385C>T (p.Ile795=) rs200730765 0.00001
NM_000069.3(CACNA1S):c.239A>G (p.Asn80Ser) rs752667224 0.00001
NM_000069.3(CACNA1S):c.2442T>C (p.Ala814=) rs1198118590 0.00001
NM_000069.3(CACNA1S):c.2512G>A (p.Gly838Arg) rs1356510559 0.00001
NM_000069.3(CACNA1S):c.2556G>A (p.Thr852=) rs1160627876 0.00001
NM_000069.3(CACNA1S):c.2571C>T (p.Phe857=) rs764738319 0.00001
NM_000069.3(CACNA1S):c.258+7T>C rs1243109044 0.00001
NM_000069.3(CACNA1S):c.2631C>T (p.Ala877=) rs747402764 0.00001
NM_000069.3(CACNA1S):c.2658-10C>T rs760659248 0.00001
NM_000069.3(CACNA1S):c.2658-5C>T rs1476160747 0.00001
NM_000069.3(CACNA1S):c.2674G>A (p.Val892Met) rs146823170 0.00001
NM_000069.3(CACNA1S):c.2688G>A (p.Leu896=) rs945772592 0.00001
NM_000069.3(CACNA1S):c.2707C>T (p.Arg903Ter) rs367983954 0.00001
NM_000069.3(CACNA1S):c.272A>T (p.Tyr91Phe) rs1013152799 0.00001
NM_000069.3(CACNA1S):c.2745+11G>T rs756261167 0.00001
NM_000069.3(CACNA1S):c.2746-8G>C rs1572039133 0.00001
NM_000069.3(CACNA1S):c.2763G>T (p.Met921Ile) rs965862537 0.00001
NM_000069.3(CACNA1S):c.2766C>T (p.Phe922=) rs376393159 0.00001
NM_000069.3(CACNA1S):c.276C>T (p.Phe92=) rs774994749 0.00001
NM_000069.3(CACNA1S):c.2770G>T (p.Ala924Ser) rs1442305463 0.00001
NM_000069.3(CACNA1S):c.2791A>G (p.Ile931Val) rs778518002 0.00001
NM_000069.3(CACNA1S):c.2836G>A (p.Gly946Ser) rs569324688 0.00001
NM_000069.3(CACNA1S):c.284T>C (p.Ile95Thr) rs550479246 0.00001
NM_000069.3(CACNA1S):c.2854-4G>A rs1421864888 0.00001
NM_000069.3(CACNA1S):c.2854-6C>T rs1033462438 0.00001
NM_000069.3(CACNA1S):c.2862C>T (p.Phe954=) rs1402878092 0.00001
NM_000069.3(CACNA1S):c.2884A>G (p.Lys962Glu) rs200300308 0.00001
NM_000069.3(CACNA1S):c.288C>T (p.Val96=) rs548832647 0.00001
NM_000069.3(CACNA1S):c.2895G>A (p.Glu965=) rs1310231316 0.00001
NM_000069.3(CACNA1S):c.2907-16G>A rs756591873 0.00001
NM_000069.3(CACNA1S):c.2910C>T (p.Gly970=) rs1572035925 0.00001
NM_000069.3(CACNA1S):c.2921T>A (p.Val974Glu) rs974247677 0.00001
NM_000069.3(CACNA1S):c.2922G>A (p.Val974=) rs377715551 0.00001
NM_000069.3(CACNA1S):c.2931C>T (p.Asp977=) rs374912997 0.00001
NM_000069.3(CACNA1S):c.294G>A (p.Ser98=) rs201012916 0.00001
NM_000069.3(CACNA1S):c.2994C>A (p.Asp998Glu) rs886045798 0.00001
NM_000069.3(CACNA1S):c.3036C>T (p.Thr1012=) rs1661064920 0.00001
NM_000069.3(CACNA1S):c.3054-19C>A rs768208345 0.00001
NM_000069.3(CACNA1S):c.3054-6C>T rs1414012957 0.00001
NM_000069.3(CACNA1S):c.3054G>A (p.Gln1018=) rs141956714 0.00001
NM_000069.3(CACNA1S):c.3080A>G (p.Asn1027Ser) rs757112281 0.00001
NM_000069.3(CACNA1S):c.3096T>A (p.Gly1032=) rs1661044517 0.00001
NM_000069.3(CACNA1S):c.3111C>A (p.Asn1037Lys) rs143836984 0.00001
NM_000069.3(CACNA1S):c.3137T>A (p.Ile1046Asn) rs749706205 0.00001
NM_000069.3(CACNA1S):c.315C>T (p.Ile105=) rs756365041 0.00001
NM_000069.3(CACNA1S):c.3166A>G (p.Met1056Val) rs757165791 0.00001
NM_000069.3(CACNA1S):c.3173A>G (p.Asn1058Ser) rs777876303 0.00001
NM_000069.3(CACNA1S):c.3189C>T (p.Phe1063=) rs150020550 0.00001
NM_000069.3(CACNA1S):c.3195T>G (p.Ile1065Met) rs767698922 0.00001
NM_000069.3(CACNA1S):c.321C>T (p.Ala107=) rs772876806 0.00001
NM_000069.3(CACNA1S):c.3237T>C (p.Cys1079=) rs1398878764 0.00001
NM_000069.3(CACNA1S):c.323A>G (p.Tyr108Cys) rs768322856 0.00001
NM_000069.3(CACNA1S):c.3256-9G>A rs1294455750 0.00001
NM_000069.3(CACNA1S):c.331T>C (p.Leu111=) rs1453821550 0.00001
NM_000069.3(CACNA1S):c.3390C>G (p.Leu1130=) rs140294191 0.00001
NM_000069.3(CACNA1S):c.3398T>C (p.Ile1133Thr) rs1558061864 0.00001
NM_000069.3(CACNA1S):c.3405C>T (p.Leu1135=) rs777887405 0.00001
NM_000069.3(CACNA1S):c.340C>A (p.Gln114Lys) rs776320792 0.00001
NM_000069.3(CACNA1S):c.3414+10C>T rs373169793 0.00001
NM_000069.3(CACNA1S):c.3414+3A>T rs892742196 0.00001
NM_000069.3(CACNA1S):c.3428C>T (p.Ser1143Leu) rs756712640 0.00001
NM_000069.3(CACNA1S):c.3437T>A (p.Met1146Lys) rs763707356 0.00001
NM_000069.3(CACNA1S):c.3463G>A (p.Val1155Met) rs1362149806 0.00001
NM_000069.3(CACNA1S):c.3525+19G>A rs768948072 0.00001
NM_000069.3(CACNA1S):c.3526-3C>T rs753852308 0.00001
NM_000069.3(CACNA1S):c.3532T>G (p.Phe1178Val) rs768999591 0.00001
NM_000069.3(CACNA1S):c.356G>C (p.Arg119Pro) rs749588662 0.00001
NM_000069.3(CACNA1S):c.3579C>T (p.Ser1193=) rs746543020 0.00001
NM_000069.3(CACNA1S):c.3584T>C (p.Ile1195Thr) rs200366112 0.00001
NM_000069.3(CACNA1S):c.3609+12G>A rs753525579 0.00001
NM_000069.3(CACNA1S):c.3609+6T>C rs1369529387 0.00001
NM_000069.3(CACNA1S):c.3627C>T (p.Ser1209=) rs200852196 0.00001
NM_000069.3(CACNA1S):c.3636G>A (p.Leu1212=) rs774191804 0.00001
NM_000069.3(CACNA1S):c.3658G>A (p.Gly1220Arg) rs776908038 0.00001
NM_000069.3(CACNA1S):c.3663C>T (p.Asn1221=) rs773738696 0.00001
NM_000069.3(CACNA1S):c.3666+14G>T rs768205078 0.00001
NM_000069.3(CACNA1S):c.3667-4G>A rs762497596 0.00001
NM_000069.3(CACNA1S):c.3678G>C (p.Glu1226Asp) rs769524894 0.00001
NM_000069.3(CACNA1S):c.3690C>T (p.Ile1230=) rs1246570435 0.00001
NM_000069.3(CACNA1S):c.3706C>T (p.Arg1236Cys) rs1311389470 0.00001
NM_000069.3(CACNA1S):c.3722T>C (p.Met1241Thr) rs756259956 0.00001
NM_000069.3(CACNA1S):c.3725G>A (p.Arg1242Lys) rs750637537 0.00001
NM_000069.3(CACNA1S):c.3754G>A (p.Gly1252Arg) rs768780512 0.00001
NM_000069.3(CACNA1S):c.3786G>A (p.Lys1262=) rs1660728565 0.00001
NM_000069.3(CACNA1S):c.3795+10G>A rs1361377771 0.00001
NM_000069.3(CACNA1S):c.3795G>T (p.Gln1265His) rs201627041 0.00001
NM_000069.3(CACNA1S):c.3823G>A (p.Val1275Ile) rs760441649 0.00001
NM_000069.3(CACNA1S):c.3852C>T (p.Ile1284=) rs1024486307 0.00001
NM_000069.3(CACNA1S):c.3876C>T (p.Ile1292=) rs748525277 0.00001
NM_000069.3(CACNA1S):c.3943C>T (p.Leu1315=) rs1262731998 0.00001
NM_000069.3(CACNA1S):c.3953+18C>T rs749628635 0.00001
NM_000069.3(CACNA1S):c.3953+4C>T rs763936268 0.00001
NM_000069.3(CACNA1S):c.3988del (p.Leu1330fs) rs757045433 0.00001
NM_000069.3(CACNA1S):c.3992C>T (p.Ala1331Val) rs1207041561 0.00001
NM_000069.3(CACNA1S):c.4017C>T (p.Asp1339=) rs754778841 0.00001
NM_000069.3(CACNA1S):c.4025C>T (p.Ser1342Leu) rs563795648 0.00001
NM_000069.3(CACNA1S):c.4061C>T (p.Thr1354Ile) rs200487546 0.00001
NM_000069.3(CACNA1S):c.408C>T (p.Thr136=) rs758816304 0.00001
NM_000069.3(CACNA1S):c.4145A>G (p.Asp1382Gly) rs1007920084 0.00001
NM_000069.3(CACNA1S):c.4165C>T (p.Arg1389Trp) rs376052781 0.00001
NM_000069.3(CACNA1S):c.4166G>A (p.Arg1389Gln) rs756438139 0.00001
NM_000069.3(CACNA1S):c.4242-10C>G rs574154912 0.00001
NM_000069.3(CACNA1S):c.4242-4G>A rs780264366 0.00001
NM_000069.3(CACNA1S):c.4243G>A (p.Gly1415Arg) rs886045796 0.00001
NM_000069.3(CACNA1S):c.4255C>T (p.His1419Tyr) rs1346780583 0.00001
NM_000069.3(CACNA1S):c.4263C>T (p.Asp1421=) rs368436684 0.00001
NM_000069.3(CACNA1S):c.4317C>T (p.Cys1439=) rs764987846 0.00001
NM_000069.3(CACNA1S):c.4339-15C>T rs771362060 0.00001
NM_000069.3(CACNA1S):c.4345G>A (p.Val1449Met) rs542998031 0.00001
NM_000069.3(CACNA1S):c.4348G>A (p.Gly1450Ser) rs753557812 0.00001
NM_000069.3(CACNA1S):c.4374C>T (p.Asp1458=) rs757017761 0.00001
NM_000069.3(CACNA1S):c.4385C>A (p.Thr1462Asn) rs1175915781 0.00001
NM_000069.3(CACNA1S):c.4411G>T (p.Val1471Phe) rs1304704158 0.00001
NM_000069.3(CACNA1S):c.445A>G (p.Thr149Ala) rs74642988 0.00001
NM_000069.3(CACNA1S):c.4462G>A (p.Glu1488Lys) rs533353353 0.00001
NM_000069.3(CACNA1S):c.4490T>C (p.Ile1497Thr) rs752620158 0.00001
NM_000069.3(CACNA1S):c.4519G>C (p.Asp1507His) rs772376048 0.00001
NM_000069.3(CACNA1S):c.4546G>C (p.Asp1516His) rs764330337 0.00001
NM_000069.3(CACNA1S):c.4593G>A (p.Glu1531=) rs1221360815 0.00001
NM_000069.3(CACNA1S):c.4598T>C (p.Phe1533Ser) rs772750589 0.00001
NM_000069.3(CACNA1S):c.4600C>T (p.Arg1534Trp) rs914458618 0.00001
NM_000069.3(CACNA1S):c.4601G>A (p.Arg1534Gln) rs891244994 0.00001
NM_000069.3(CACNA1S):c.4650G>T (p.Lys1550Asn) rs1413666626 0.00001
NM_000069.3(CACNA1S):c.4704C>T (p.Pro1568=) rs1451944290 0.00001
NM_000069.3(CACNA1S):c.4717A>T (p.Thr1573Ser) rs147007610 0.00001
NM_000069.3(CACNA1S):c.4770G>A (p.Glu1590=) rs756402603 0.00001
NM_000069.3(CACNA1S):c.4775C>T (p.Ala1592Val) rs1037769687 0.00001
NM_000069.3(CACNA1S):c.4789A>G (p.Ile1597Val) rs1660397861 0.00001
NM_000069.3(CACNA1S):c.4795C>T (p.Arg1599Trp) rs763695518 0.00001
NM_000069.3(CACNA1S):c.4797+16G>A rs765124358 0.00001
NM_000069.3(CACNA1S):c.4798-12C>T rs764751568 0.00001
NM_000069.3(CACNA1S):c.4984A>T (p.Asn1662Tyr) rs200772623 0.00001
NM_000069.3(CACNA1S):c.502C>T (p.Arg168Ter) rs201998231 0.00001
NM_000069.3(CACNA1S):c.503G>A (p.Arg168Gln) rs777920946 0.00001
NM_000069.3(CACNA1S):c.5048+8C>T rs759622507 0.00001
NM_000069.3(CACNA1S):c.5058T>C (p.Tyr1686=) rs1463916776 0.00001
NM_000069.3(CACNA1S):c.5135-3C>T rs1311822511 0.00001
NM_000069.3(CACNA1S):c.5135-7C>T rs886038223 0.00001
NM_000069.3(CACNA1S):c.5150C>G (p.Pro1717Arg) rs758722244 0.00001
NM_000069.3(CACNA1S):c.5206G>A (p.Ala1736Thr) rs776273589 0.00001
NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp) rs772226819 0.00001
NM_000069.3(CACNA1S):c.5256G>A (p.Glu1752=) rs1167317929 0.00001
NM_000069.3(CACNA1S):c.5307C>T (p.Ser1769=) rs767120843 0.00001
NM_000069.3(CACNA1S):c.5315C>G (p.Thr1772Ser) rs751225635 0.00001
NM_000069.3(CACNA1S):c.531G>A (p.Ser177=) rs750087191 0.00001
NM_000069.3(CACNA1S):c.5340A>G (p.Ser1780=) rs1430395487 0.00001
NM_000069.3(CACNA1S):c.534G>A (p.Gly178=) rs767013417 0.00001
NM_000069.3(CACNA1S):c.5361G>A (p.Leu1787=) rs1364103316 0.00001
NM_000069.3(CACNA1S):c.5370+13C>T rs1275656462 0.00001
NM_000069.3(CACNA1S):c.5370+6C>A rs769074038 0.00001
NM_000069.3(CACNA1S):c.541+18T>A rs760602154 0.00001
NM_000069.3(CACNA1S):c.541+7G>A rs1218931598 0.00001
NM_000069.3(CACNA1S):c.542-17C>T rs759542761 0.00001
NM_000069.3(CACNA1S):c.5423T>C (p.Met1808Thr) rs1170882286 0.00001
NM_000069.3(CACNA1S):c.5482A>G (p.Met1828Val) rs1183190556 0.00001
NM_000069.3(CACNA1S):c.5532C>G (p.Ser1844Arg) rs370647481 0.00001
NM_000069.3(CACNA1S):c.5556G>A (p.Gly1852=) rs746057386 0.00001
NM_000069.3(CACNA1S):c.5557T>C (p.Ser1853Pro) rs1660060487 0.00001
NM_000069.3(CACNA1S):c.5572C>T (p.Leu1858Phe) rs1356229958 0.00001
NM_000069.3(CACNA1S):c.5583C>T (p.His1861=) rs764110964 0.00001
NM_000069.3(CACNA1S):c.5613A>G (p.Pro1871=) rs540156963 0.00001
NM_000069.3(CACNA1S):c.5614A>G (p.Arg1872Gly) rs143345409 0.00001
NM_000069.3(CACNA1S):c.564C>T (p.Ser188=) rs769008033 0.00001
NM_000069.3(CACNA1S):c.586C>A (p.Leu196Ile) rs1402361054 0.00001
NM_000069.3(CACNA1S):c.625A>G (p.Ile209Val) rs566565917 0.00001
NM_000069.3(CACNA1S):c.656A>G (p.Lys219Arg) rs771569004 0.00001
NM_000069.3(CACNA1S):c.681C>T (p.Tyr227=) rs371991382 0.00001
NM_000069.3(CACNA1S):c.686T>C (p.Ile229Thr) rs778551098 0.00001
NM_000069.3(CACNA1S):c.695-1G>A rs1213421499 0.00001
NM_000069.3(CACNA1S):c.695-5T>A rs1487979476 0.00001
NM_000069.3(CACNA1S):c.704C>T (p.Ala235Val) rs1209511803 0.00001
NM_000069.3(CACNA1S):c.709G>A (p.Val237Met) rs766892095 0.00001
NM_000069.3(CACNA1S):c.729G>A (p.Ser243=) rs148593959 0.00001
NM_000069.3(CACNA1S):c.736G>A (p.Ala246Thr) rs779799849 0.00001
NM_000069.3(CACNA1S):c.747C>T (p.Gly249=) rs778890024 0.00001
NM_000069.3(CACNA1S):c.766A>G (p.Ile256Val) rs190152688 0.00001
NM_000069.3(CACNA1S):c.806A>G (p.Asn269Ser) rs1028599438 0.00001
NM_000069.3(CACNA1S):c.826G>A (p.Asp276Asn) rs757755172 0.00001
NM_000069.3(CACNA1S):c.868A>G (p.Thr290Ala) rs749324671 0.00001
NM_000069.3(CACNA1S):c.870C>T (p.Thr290=) rs780305979 0.00001
NM_000069.3(CACNA1S):c.896A>T (p.Tyr299Phe) rs980556708 0.00001
NM_000069.3(CACNA1S):c.900+15del rs556582751 0.00001
NM_000069.3(CACNA1S):c.900+9G>A rs1454687459 0.00001
NM_000069.3(CACNA1S):c.901-19A>G rs778141559 0.00001
NM_000069.3(CACNA1S):c.905A>G (p.Asn302Ser) rs765889961 0.00001
NM_000069.3(CACNA1S):c.947C>G (p.Thr316Ser) rs1339416724 0.00001
NC_000001.10:g.(?_200522516)_(208391267_?)dup
NC_000001.10:g.(?_201008959)_(201013604_?)dup
NC_000001.10:g.(?_201012389)_(201013604_?)del
NC_000001.10:g.(?_201013436)_(201013604_?)del
NC_000001.10:g.(?_201041873)_(201045757_?)del
NC_000001.10:g.(?_201063001)_(201066352_?)del
NC_000001.10:g.(?_201079272)_(201081467_?)del
NC_000001.11:g.201044429_201044459del
NM_000069.3(CACNA1S):c.1005-12A>G
NM_000069.3(CACNA1S):c.1005-19C>G rs749844659
NM_000069.3(CACNA1S):c.1005-5T>C
NM_000069.3(CACNA1S):c.100C>G (p.Leu34Val)
NM_000069.3(CACNA1S):c.100C>T (p.Leu34=)
NM_000069.3(CACNA1S):c.1021C>G (p.Arg341Gly)
NM_000069.3(CACNA1S):c.1021C>T (p.Arg341Trp)
NM_000069.3(CACNA1S):c.1022G>A (p.Arg341Gln)
NM_000069.3(CACNA1S):c.1035G>A (p.Lys345=)
NM_000069.3(CACNA1S):c.103A>C (p.Thr35Pro)
NM_000069.3(CACNA1S):c.103A>G (p.Thr35Ala) rs1663150760
NM_000069.3(CACNA1S):c.1047C>T (p.Thr349=) rs542505383
NM_000069.3(CACNA1S):c.1062G>A (p.Arg354=) rs2102154929
NM_000069.3(CACNA1S):c.1084G>A (p.Asp362Asn)
NM_000069.3(CACNA1S):c.1087C>T (p.Leu363Phe)
NM_000069.3(CACNA1S):c.1087del (p.Leu363fs) rs2102154885
NM_000069.3(CACNA1S):c.108G>C (p.Leu36=) rs1572080659
NM_000069.3(CACNA1S):c.1090C>T (p.Arg364Trp)
NM_000069.3(CACNA1S):c.1092G>C (p.Arg364=) rs763965450
NM_000069.3(CACNA1S):c.1093G>A (p.Gly365Ser) rs1662009066
NM_000069.3(CACNA1S):c.1101G>A (p.Met367Ile) rs1438961156
NM_000069.3(CACNA1S):c.1106G>T (p.Trp369Leu) rs1558076931
NM_000069.3(CACNA1S):c.1119C>A (p.Gly373=) rs777414745
NM_000069.3(CACNA1S):c.1119C>T (p.Gly373=)
NM_000069.3(CACNA1S):c.111G>A (p.Glu37=)
NM_000069.3(CACNA1S):c.1122G>T (p.Glu374Asp)
NM_000069.3(CACNA1S):c.1123G>T (p.Val375Phe) rs1174671318
NM_000069.3(CACNA1S):c.112A>T (p.Asn38Tyr)
NM_000069.3(CACNA1S):c.1149A>G (p.Glu383=) rs544185379
NM_000069.3(CACNA1S):c.1150+15G>C
NM_000069.3(CACNA1S):c.1150+3T>C rs770379814
NM_000069.3(CACNA1S):c.1150+6G>T
NM_000069.3(CACNA1S):c.1150+9C>T rs2102154694
NM_000069.3(CACNA1S):c.1151-11C>T rs1466916514
NM_000069.3(CACNA1S):c.1151-13C>A rs200273802
NM_000069.3(CACNA1S):c.1151-13C>G
NM_000069.3(CACNA1S):c.1158G>A (p.Leu386=)
NM_000069.3(CACNA1S):c.1160C>G (p.Ser387Cys)
NM_000069.3(CACNA1S):c.116C>T (p.Pro39Leu) rs1663146674
NM_000069.3(CACNA1S):c.1171G>A (p.Gly391Ser) rs1661979627
NM_000069.3(CACNA1S):c.1189_1190del (p.Ser397fs)
NM_000069.3(CACNA1S):c.1206A>G (p.Ala402=) rs1572056464
NM_000069.3(CACNA1S):c.1214A>G (p.Asn405Ser)
NM_000069.3(CACNA1S):c.1218A>T (p.Lys406Asn)
NM_000069.3(CACNA1S):c.1228T>C (p.Phe410Leu)
NM_000069.3(CACNA1S):c.1232+11G>T
NM_000069.3(CACNA1S):c.1232+13C>T
NM_000069.3(CACNA1S):c.1232+18G>C
NM_000069.3(CACNA1S):c.1232+20C>T
NM_000069.3(CACNA1S):c.1233-18C>T
NM_000069.3(CACNA1S):c.1233-20T>G
NM_000069.3(CACNA1S):c.1233-4T>A rs756624763
NM_000069.3(CACNA1S):c.1233-5C>T
NM_000069.3(CACNA1S):c.1233-6C>T rs2102151894
NM_000069.3(CACNA1S):c.1235G>A (p.Arg412Gln)
NM_000069.3(CACNA1S):c.1239T>C (p.His413=) rs762629952
NM_000069.3(CACNA1S):c.1240T>C (p.Trp414Arg)
NM_000069.3(CACNA1S):c.1244G>C (p.Arg415Thr)
NM_000069.3(CACNA1S):c.1247A>G (p.Gln416Arg)
NM_000069.3(CACNA1S):c.124A>T (p.Lys42Ter)
NM_000069.3(CACNA1S):c.1250G>C (p.Trp417Ser)
NM_000069.3(CACNA1S):c.1265G>A (p.Arg422His)
NM_000069.3(CACNA1S):c.126G>A (p.Lys42=)
NM_000069.3(CACNA1S):c.1271del (p.Lys424fs)
NM_000069.3(CACNA1S):c.1274del (p.Cys425fs) rs2102151799
NM_000069.3(CACNA1S):c.1277A>G (p.His426Arg) rs749572656
NM_000069.3(CACNA1S):c.1278T>A (p.His426Gln)
NM_000069.3(CACNA1S):c.1282A>G (p.Ile428Val) rs756504992
NM_000069.3(CACNA1S):c.1282A>T (p.Ile428Phe)
NM_000069.3(CACNA1S):c.1285G>A (p.Val429Met) rs750807406
NM_000069.3(CACNA1S):c.1294A>G (p.Lys432Glu)
NM_000069.3(CACNA1S):c.12C>T (p.Ser4=) rs1448450110
NM_000069.3(CACNA1S):c.1322T>C (p.Ile441Thr) rs749522764
NM_000069.3(CACNA1S):c.1330C>T (p.Leu444Phe) rs138735817
NM_000069.3(CACNA1S):c.1347C>A (p.Ile449=) rs754689047
NM_000069.3(CACNA1S):c.1350C>T (p.Ala450=) rs1558075481
NM_000069.3(CACNA1S):c.1356G>T (p.Glu452Asp)
NM_000069.3(CACNA1S):c.1366C>T (p.Gln456Ter)
NM_000069.3(CACNA1S):c.136A>C (p.Ser46Arg)
NM_000069.3(CACNA1S):c.1371T>A (p.Pro457=) rs12742170
NM_000069.3(CACNA1S):c.1380G>C (p.Leu460=)
NM_000069.3(CACNA1S):c.1382C>A (p.Thr461Asn) rs143202536
NM_000069.3(CACNA1S):c.1393+11A>G rs753604199
NM_000069.3(CACNA1S):c.1393+12C>T
NM_000069.3(CACNA1S):c.1393+9G>A
NM_000069.3(CACNA1S):c.1394-4A>G
NM_000069.3(CACNA1S):c.1394-8C>A rs375250339
NM_000069.3(CACNA1S):c.1394-8C>T rs375250339
NM_000069.3(CACNA1S):c.1401_1414del (p.Asn468fs) rs2102144416
NM_000069.3(CACNA1S):c.1403A>G (p.Asn468Ser)
NM_000069.3(CACNA1S):c.1406G>T (p.Arg469Leu)
NM_000069.3(CACNA1S):c.1407G>T (p.Arg469=)
NM_000069.3(CACNA1S):c.140T>C (p.Ile47Thr) rs372497364
NM_000069.3(CACNA1S):c.1410G>A (p.Val470=) rs1661698305
NM_000069.3(CACNA1S):c.1410G>C (p.Val470=)
NM_000069.3(CACNA1S):c.1411C>T (p.Leu471=) rs146389514
NM_000069.3(CACNA1S):c.1413G>C (p.Leu471=)
NM_000069.3(CACNA1S):c.1416G>A (p.Leu472=)
NM_000069.3(CACNA1S):c.1422C>T (p.Leu474=) rs2102144398
NM_000069.3(CACNA1S):c.1430C>T (p.Thr477Ile) rs1235626524
NM_000069.3(CACNA1S):c.1439T>A (p.Leu480Gln) rs2102144367
NM_000069.3(CACNA1S):c.143T>C (p.Val48Ala) rs977298165
NM_000069.3(CACNA1S):c.1440G>A (p.Leu480=)
NM_000069.3(CACNA1S):c.1446G>A (p.Lys482=) rs1558072779
NM_000069.3(CACNA1S):c.1453G>A (p.Gly485Arg)
NM_000069.3(CACNA1S):c.1455G>T (p.Gly485=)
NM_000069.3(CACNA1S):c.1459G>A (p.Gly487Ser)
NM_000069.3(CACNA1S):c.1470G>A (p.Gln490=) rs373712202
NM_000069.3(CACNA1S):c.1478T>C (p.Met493Thr) rs1411108885
NM_000069.3(CACNA1S):c.1493G>A (p.Arg498His) rs150590855
NM_000069.3(CACNA1S):c.1493G>T (p.Arg498Leu) rs150590855
NM_000069.3(CACNA1S):c.1499A>G (p.Asp500Gly) rs1661693985
NM_000069.3(CACNA1S):c.14C>T (p.Ser5Leu) rs772738139
NM_000069.3(CACNA1S):c.1503C>A (p.Cys501Ter) rs762294904
NM_000069.3(CACNA1S):c.1508T>C (p.Val503Ala) rs763510310
NM_000069.3(CACNA1S):c.1509G>C (p.Val503=)
NM_000069.3(CACNA1S):c.150G>C (p.Trp50Cys)
NM_000069.3(CACNA1S):c.1511T>G (p.Val504Gly)
NM_000069.3(CACNA1S):c.152+14C>T rs201285556
NM_000069.3(CACNA1S):c.152+16C>T
NM_000069.3(CACNA1S):c.152+17G>A rs113558244
NM_000069.3(CACNA1S):c.152+17G>C rs113558244
NM_000069.3(CACNA1S):c.152+7T>C
NM_000069.3(CACNA1S):c.153-18C>T
NM_000069.3(CACNA1S):c.153-20C>T
NM_000069.3(CACNA1S):c.153-8G>A rs1663050022
NM_000069.3(CACNA1S):c.1536G>T (p.Leu512=) rs1490665418
NM_000069.3(CACNA1S):c.153G>A (p.Lys51=)
NM_000069.3(CACNA1S):c.1542G>A (p.Val514=)
NM_000069.3(CACNA1S):c.1547C>G (p.Ser516Trp) rs140662085
NM_000069.3(CACNA1S):c.1547C>T (p.Ser516Leu) rs140662085
NM_000069.3(CACNA1S):c.1550G>A (p.Gly517Asp) rs2102144073
NM_000069.3(CACNA1S):c.1551_1552inv (p.Ala518Thr)
NM_000069.3(CACNA1S):c.1562C>T (p.Pro521Leu) rs1253021609
NM_000069.3(CACNA1S):c.1563C>A (p.Pro521=) rs775975526
NM_000069.3(CACNA1S):c.1564C>G (p.Leu522Val) rs4915476
NM_000069.3(CACNA1S):c.1575C>G (p.Ser525=) rs771788360
NM_000069.3(CACNA1S):c.1575C>T (p.Ser525=) rs771788360
NM_000069.3(CACNA1S):c.157T>C (p.Phe53Leu) rs754668127
NM_000069.3(CACNA1S):c.1585T>C (p.Cys529Arg)
NM_000069.3(CACNA1S):c.1586G>T (p.Cys529Phe) rs745998610
NM_000069.3(CACNA1S):c.1596C>T (p.Leu532=)
NM_000069.3(CACNA1S):c.159C>T (p.Phe53=) rs199720439
NM_000069.3(CACNA1S):c.1602G>A (p.Arg534=)
NM_000069.3(CACNA1S):c.1606T>C (p.Phe536Leu)
NM_000069.3(CACNA1S):c.1607T>C (p.Phe536Ser)
NM_000069.3(CACNA1S):c.160G>A (p.Glu54Lys)
NM_000069.3(CACNA1S):c.160G>C (p.Glu54Gln) rs1553254121
NM_000069.3(CACNA1S):c.1614C>T (p.Ile538=) rs2102143850
NM_000069.3(CACNA1S):c.1619+10G>T rs374195664
NM_000069.3(CACNA1S):c.1619+11G>A
NM_000069.3(CACNA1S):c.1619+15C>A rs771698501
NM_000069.3(CACNA1S):c.1619+9C>G rs372942667
NM_000069.3(CACNA1S):c.1620-12C>A
NM_000069.3(CACNA1S):c.1620-12C>T
NM_000069.3(CACNA1S):c.1620-15C>T
NM_000069.3(CACNA1S):c.1620-17G>A
NM_000069.3(CACNA1S):c.1620-4T>G rs2102142727
NM_000069.3(CACNA1S):c.1623T>C (p.Tyr541=)
NM_000069.3(CACNA1S):c.1624T>A (p.Trp542Arg) rs2102142703
NM_000069.3(CACNA1S):c.1629G>A (p.Thr543=) rs143999390
NM_000069.3(CACNA1S):c.1629G>T (p.Thr543=) rs143999390
NM_000069.3(CACNA1S):c.162G>T (p.Glu54Asp) rs569061608
NM_000069.3(CACNA1S):c.1642C>G (p.Leu548Val) rs940478189
NM_000069.3(CACNA1S):c.1642C>T (p.Leu548=) rs940478189
NM_000069.3(CACNA1S):c.164C>T (p.Thr55Met) rs549107212
NM_000069.3(CACNA1S):c.165G>C (p.Thr55=) rs150520884
NM_000069.3(CACNA1S):c.1660A>G (p.Asn554Asp) rs1661653168
NM_000069.3(CACNA1S):c.1684C>T (p.Leu562=)
NM_000069.3(CACNA1S):c.1698C>T (p.Leu566=)
NM_000069.3(CACNA1S):c.169A>G (p.Ile57Val) rs1663048287
NM_000069.3(CACNA1S):c.1704C>G (p.Leu568=)
NM_000069.3(CACNA1S):c.1710C>T (p.Ile570=)
NM_000069.3(CACNA1S):c.1713C>T (p.Val571=)
NM_000069.3(CACNA1S):c.1720G>A (p.Ala574Thr)
NM_000069.3(CACNA1S):c.1721C>T (p.Ala574Val) rs1004513123
NM_000069.3(CACNA1S):c.1724T>C (p.Leu575Pro)
NM_000069.3(CACNA1S):c.1728G>A (p.Leu576=)
NM_000069.3(CACNA1S):c.1732A>G (p.Met578Val)
NM_000069.3(CACNA1S):c.1742T>C (p.Phe581Ser)
NM_000069.3(CACNA1S):c.1744G>C (p.Gly582Arg) rs1365145775
NM_000069.3(CACNA1S):c.1744G>T (p.Gly582Trp)
NM_000069.3(CACNA1S):c.1749G>A (p.Gly583=)
NM_000069.3(CACNA1S):c.1750A>C (p.Arg584=) rs2102142393
NM_000069.3(CACNA1S):c.1752G>A (p.Arg584=)
NM_000069.3(CACNA1S):c.1768A>G (p.Thr590Ala) rs1661646302
NM_000069.3(CACNA1S):c.1777C>A (p.Arg593=) rs138541733
NM_000069.3(CACNA1S):c.1778G>A (p.Arg593Gln) rs113812219
NM_000069.3(CACNA1S):c.1779G>A (p.Arg593=)
NM_000069.3(CACNA1S):c.177C>T (p.Leu59=)
NM_000069.3(CACNA1S):c.1781G>A (p.Arg594His) rs762032797
NM_000069.3(CACNA1S):c.1781G>T (p.Arg594Leu) rs762032797
NM_000069.3(CACNA1S):c.1792_1794del (p.Asp598del) rs1572049360
NM_000069.3(CACNA1S):c.1793A>G (p.Asp598Gly) rs749475822
NM_000069.3(CACNA1S):c.1796del (p.Asn599fs) rs1558071742
NM_000069.3(CACNA1S):c.1813A>G (p.Ile605Val) rs550246898
NM_000069.3(CACNA1S):c.1813A>T (p.Ile605Phe) rs550246898
NM_000069.3(CACNA1S):c.181A>G (p.Ile61Val)
NM_000069.3(CACNA1S):c.1827+10C>T
NM_000069.3(CACNA1S):c.1827+11C>T
NM_000069.3(CACNA1S):c.1827+16G>A
NM_000069.3(CACNA1S):c.1827+8C>T
NM_000069.3(CACNA1S):c.1828-14C>T
NM_000069.3(CACNA1S):c.1828-16_1828-4del rs1661585121
NM_000069.3(CACNA1S):c.1828-18T>C
NM_000069.3(CACNA1S):c.1828-3C>A
NM_000069.3(CACNA1S):c.1829T>C (p.Val610Ala)
NM_000069.3(CACNA1S):c.1830A>G (p.Val610=) rs1479771505
NM_000069.3(CACNA1S):c.1839G>A (p.Gly613=)
NM_000069.3(CACNA1S):c.183C>A (p.Ile61=)
NM_000069.3(CACNA1S):c.1840del (p.Glu614fs)
NM_000069.3(CACNA1S):c.1842A>C (p.Glu614Asp)
NM_000069.3(CACNA1S):c.1846T>C (p.Trp616Arg)
NM_000069.3(CACNA1S):c.1847G>A (p.Trp616Ter) rs1572048220
NM_000069.3(CACNA1S):c.1866T>C (p.Asn622=) rs1572048185
NM_000069.3(CACNA1S):c.1873A>G (p.Met625Val)
NM_000069.3(CACNA1S):c.1884C>G (p.Gly628=) rs200743095
NM_000069.3(CACNA1S):c.1884C>T (p.Gly628=) rs200743095
NM_000069.3(CACNA1S):c.1887G>T (p.Gly629=)
NM_000069.3(CACNA1S):c.1889C>T (p.Pro630Leu)
NM_000069.3(CACNA1S):c.1898C>G (p.Pro633Arg)
NM_000069.3(CACNA1S):c.1902C>T (p.Gly634=)
NM_000069.3(CACNA1S):c.1904T>A (p.Met635Lys) rs144590408
NM_000069.3(CACNA1S):c.1905G>A (p.Met635Ile) rs754126882
NM_000069.3(CACNA1S):c.1920C>T (p.Tyr640=)
NM_000069.3(CACNA1S):c.1926C>G (p.Ile642Met) rs1294275087
NM_000069.3(CACNA1S):c.1936G>T (p.Val646Phe)
NM_000069.3(CACNA1S):c.1939T>C (p.Cys647Arg) rs1160159381
NM_000069.3(CACNA1S):c.1944C>T (p.Gly648=)
NM_000069.3(CACNA1S):c.1948+10C>T rs201173419
NM_000069.3(CACNA1S):c.1948+15G>A
NM_000069.3(CACNA1S):c.1948+17A>T
NM_000069.3(CACNA1S):c.1948+2T>C
NM_000069.3(CACNA1S):c.1949-5C>T
NM_000069.3(CACNA1S):c.1949-8C>T
NM_000069.3(CACNA1S):c.1949-8_1986del
NM_000069.3(CACNA1S):c.1953C>A (p.Ile651=)
NM_000069.3(CACNA1S):c.1953C>T (p.Ile651=)
NM_000069.3(CACNA1S):c.1959C>T (p.Leu653=) rs1414491241
NM_000069.3(CACNA1S):c.197T>C (p.Val66Ala) rs1663046954
NM_000069.3(CACNA1S):c.1980C>T (p.Ala660=)
NM_000069.3(CACNA1S):c.1981G>A (p.Val661Met) rs764736462
NM_000069.3(CACNA1S):c.1983G>A (p.Val661=)
NM_000069.3(CACNA1S):c.1984G>A (p.Asp662Asn)
NM_000069.3(CACNA1S):c.1989C>A (p.Asn663Lys)
NM_000069.3(CACNA1S):c.1995C>G (p.Ala665=)
NM_000069.3(CACNA1S):c.19C>T (p.Gln7Ter) rs374950276
NM_000069.3(CACNA1S):c.2004G>C (p.Glu668Asp)
NM_000069.3(CACNA1S):c.200C>T (p.Ala67Val) rs1553254116
NM_000069.3(CACNA1S):c.2022G>C (p.Gln674His) rs2102138491
NM_000069.3(CACNA1S):c.2028C>A (p.Ala676=) rs2102138464
NM_000069.3(CACNA1S):c.2034T>A (p.Ala678=)
NM_000069.3(CACNA1S):c.2046A>G (p.Lys682=) rs2102138419
NM_000069.3(CACNA1S):c.2047C>A (p.Arg683Ser) rs35708442
NM_000069.3(CACNA1S):c.2047C>T (p.Arg683Cys) rs35708442
NM_000069.3(CACNA1S):c.2057T>C (p.Met686Thr) rs1661536110
NM_000069.3(CACNA1S):c.2063+10del rs2102138348
NM_000069.3(CACNA1S):c.2063+12C>A
NM_000069.3(CACNA1S):c.2063+19G>A rs1200890823
NM_000069.3(CACNA1S):c.2063+1G>A rs1407484817
NM_000069.3(CACNA1S):c.2063+4A>C
NM_000069.3(CACNA1S):c.2063+4A>T
NM_000069.3(CACNA1S):c.2064-15G>A
NM_000069.3(CACNA1S):c.2064-26_2064-15del
NM_000069.3(CACNA1S):c.2064-5C>T
NM_000069.3(CACNA1S):c.2065G>A (p.Gly689Ser)
NM_000069.3(CACNA1S):c.2067T>G (p.Gly689=) rs1250186184
NM_000069.3(CACNA1S):c.206C>A (p.Ala69Asp) rs12406479
NM_000069.3(CACNA1S):c.206C>T (p.Ala69Val) rs12406479
NM_000069.3(CACNA1S):c.2079G>A (p.Lys693=)
NM_000069.3(CACNA1S):c.2086GAG[1] (p.Glu697del) rs1225367412
NM_000069.3(CACNA1S):c.2089G>A (p.Glu697Lys) rs750141331
NM_000069.3(CACNA1S):c.2090A>T (p.Glu697Val) rs2102137126
NM_000069.3(CACNA1S):c.2100G>C (p.Thr700=) rs774160640
NM_000069.3(CACNA1S):c.2103G>A (p.Met701Ile) rs1553251197
NM_000069.3(CACNA1S):c.2105C>T (p.Ala702Val) rs1661497048
NM_000069.3(CACNA1S):c.2157+11C>T
NM_000069.3(CACNA1S):c.2157+20A>T
NM_000069.3(CACNA1S):c.2157+3G>A rs2102136981
NM_000069.3(CACNA1S):c.2158-16del
NM_000069.3(CACNA1S):c.2158-2A>G rs2102135936
NM_000069.3(CACNA1S):c.2158-7C>T
NM_000069.3(CACNA1S):c.2161A>C (p.Lys721Gln)
NM_000069.3(CACNA1S):c.2167G>A (p.Asp723Asn)
NM_000069.3(CACNA1S):c.216G>C (p.Leu72=) rs754538534
NM_000069.3(CACNA1S):c.2182A>G (p.Asn728Asp) rs1391820892
NM_000069.3(CACNA1S):c.2195T>A (p.Val732Glu) rs2102135884
NM_000069.3(CACNA1S):c.2201A>T (p.Asp734Val) rs1661470332
NM_000069.3(CACNA1S):c.2214A>C (p.Ser738=)
NM_000069.3(CACNA1S):c.2222T>C (p.Phe741Ser)
NM_000069.3(CACNA1S):c.2223C>T (p.Phe741=)
NM_000069.3(CACNA1S):c.2227+10C>T rs2102135793
NM_000069.3(CACNA1S):c.2227+11T>C
NM_000069.3(CACNA1S):c.2227+3G>A
NM_000069.3(CACNA1S):c.2228-10C>T
NM_000069.3(CACNA1S):c.2228-13del
NM_000069.3(CACNA1S):c.2228-14C>G
NM_000069.3(CACNA1S):c.2228-14C>T
NM_000069.3(CACNA1S):c.2228-16C>G
NM_000069.3(CACNA1S):c.2228-1G>A
NM_000069.3(CACNA1S):c.2228-4A>G rs1572043441
NM_000069.3(CACNA1S):c.2258C>T (p.Pro753Leu)
NM_000069.3(CACNA1S):c.2259G>C (p.Pro753=) rs200971359
NM_000069.3(CACNA1S):c.2262G>A (p.Leu754=) rs1572043391
NM_000069.3(CACNA1S):c.2264G>T (p.Ser755Ile)
NM_000069.3(CACNA1S):c.2265C>T (p.Ser755=)
NM_000069.3(CACNA1S):c.2270G>A (p.Arg757Gln) rs868409473
NM_000069.3(CACNA1S):c.2276G>A (p.Arg759His)
NM_000069.3(CACNA1S):c.2308G>A (p.Ala770Thr)
NM_000069.3(CACNA1S):c.230A>G (p.Asp77Gly)
NM_000069.3(CACNA1S):c.2311G>A (p.Val771Met)
NM_000069.3(CACNA1S):c.2317A>G (p.Ile773Val)
NM_000069.3(CACNA1S):c.2321C>T (p.Pro774Leu)
NM_000069.3(CACNA1S):c.2324_2330del (p.Glu775fs) rs2102132473
NM_000069.3(CACNA1S):c.2325A>G (p.Glu775=) rs2102132493
NM_000069.3(CACNA1S):c.2331C>T (p.Ser777=) rs749013125
NM_000069.3(CACNA1S):c.2342T>G (p.Ile781Ser) rs780079690
NM_000069.3(CACNA1S):c.2349C>T (p.Ser783=) rs1572043239
NM_000069.3(CACNA1S):c.2350C>G (p.Pro784Ala)
NM_000069.3(CACNA1S):c.2355C>A (p.Thr785=)
NM_000069.3(CACNA1S):c.2360+10C>T
NM_000069.3(CACNA1S):c.2360+9C>T
NM_000069.3(CACNA1S):c.2360A>T (p.Lys787Met)
NM_000069.3(CACNA1S):c.2361-4C>T rs1187060651
NM_000069.3(CACNA1S):c.237C>G (p.Asn79Lys)
NM_000069.3(CACNA1S):c.2385C>A (p.Ile795=)
NM_000069.3(CACNA1S):c.2395A>T (p.Thr799Ser) rs1572042622
NM_000069.3(CACNA1S):c.2398T>C (p.Trp800Arg)
NM_000069.3(CACNA1S):c.240C>G (p.Asn80Lys)
NM_000069.3(CACNA1S):c.2412C>T (p.Phe804=)
NM_000069.3(CACNA1S):c.2416C>T (p.Leu806=)
NM_000069.3(CACNA1S):c.2418G>C (p.Leu806=) rs182634146
NM_000069.3(CACNA1S):c.2421C>T (p.Leu807=)
NM_000069.3(CACNA1S):c.2428C>T (p.Leu810=)
NM_000069.3(CACNA1S):c.2447T>C (p.Leu816Pro)
NM_000069.3(CACNA1S):c.2454G>A (p.Ala818=) rs141619541
NM_000069.3(CACNA1S):c.2454G>T (p.Ala818=) rs141619541
NM_000069.3(CACNA1S):c.2457A>G (p.Glu819=)
NM_000069.3(CACNA1S):c.2463C>T (p.Pro821=)
NM_000069.3(CACNA1S):c.2464A>T (p.Ile822Phe)
NM_000069.3(CACNA1S):c.2473G>A (p.Asp825Asn)
NM_000069.3(CACNA1S):c.2476T>A (p.Ser826Thr) rs1558067487
NM_000069.3(CACNA1S):c.2479A>G (p.Met827Val)
NM_000069.3(CACNA1S):c.2491-12C>T
NM_000069.3(CACNA1S):c.2491-13G>A rs750836806
NM_000069.3(CACNA1S):c.2491-17C>A
NM_000069.3(CACNA1S):c.2491-19G>A
NM_000069.3(CACNA1S):c.2491-19G>T
NM_000069.3(CACNA1S):c.2491-2A>G
NM_000069.3(CACNA1S):c.2491-6C>T
NM_000069.3(CACNA1S):c.2503T>G (p.Phe835Val)
NM_000069.3(CACNA1S):c.2505T>C (p.Phe835=) rs1057524226
NM_000069.3(CACNA1S):c.2507A>G (p.Asp836Gly) rs1558067263
NM_000069.3(CACNA1S):c.2511C>T (p.Ile837=) rs764647345
NM_000069.3(CACNA1S):c.2519C>T (p.Thr840Ile) rs2102130615
NM_000069.3(CACNA1S):c.251T>A (p.Leu84His)
NM_000069.3(CACNA1S):c.2542G>A (p.Val848Ile) rs1661358358
NM_000069.3(CACNA1S):c.2550+11G>C
NM_000069.3(CACNA1S):c.2550+13T>C
NM_000069.3(CACNA1S):c.2550+15T>C
NM_000069.3(CACNA1S):c.2550+16G>A
NM_000069.3(CACNA1S):c.2550+7G>A
NM_000069.3(CACNA1S):c.258+17C>T
NM_000069.3(CACNA1S):c.258+2T>C
NM_000069.3(CACNA1S):c.258+4A>G rs2102190508
NM_000069.3(CACNA1S):c.2581G>A (p.Gly861Ser)
NM_000069.3(CACNA1S):c.2582G>A (p.Gly861Asp)
NM_000069.3(CACNA1S):c.259-4A>C rs367999059
NM_000069.3(CACNA1S):c.259-6C>T
NM_000069.3(CACNA1S):c.2612T>C (p.Leu871Pro) rs2102126857
NM_000069.3(CACNA1S):c.2613G>T (p.Leu871=) rs770064983
NM_000069.3(CACNA1S):c.2622G>T (p.Leu874=) rs1572040066
NM_000069.3(CACNA1S):c.2628G>A (p.Val876=) rs200898535
NM_000069.3(CACNA1S):c.2629G>A (p.Ala877Thr)
NM_000069.3(CACNA1S):c.2635T>C (p.Ser879Pro)
NM_000069.3(CACNA1S):c.2646C>T (p.Ser882=)
NM_000069.3(CACNA1S):c.2647A>C (p.Met883Leu) rs553593355
NM_000069.3(CACNA1S):c.2647A>G (p.Met883Val) rs553593355
NM_000069.3(CACNA1S):c.2652A>G (p.Gly884=)
NM_000069.3(CACNA1S):c.2657+10G>C
NM_000069.3(CACNA1S):c.2658-16C>T
NM_000069.3(CACNA1S):c.2658-7C>A rs1164819470
NM_000069.3(CACNA1S):c.2658-8C>T
NM_000069.3(CACNA1S):c.2668A>G (p.Ile890Val)
NM_000069.3(CACNA1S):c.267G>A (p.Leu89=)
NM_000069.3(CACNA1S):c.2689A>G (p.Arg897Gly) rs1572039465
NM_000069.3(CACNA1S):c.2690G>A (p.Arg897Lys) rs1287079817
NM_000069.3(CACNA1S):c.2690G>C (p.Arg897Thr) rs1287079817
NM_000069.3(CACNA1S):c.2691G>T (p.Arg897Ser) rs80338779
NM_000069.3(CACNA1S):c.2694G>T (p.Val898=) rs1553250516
NM_000069.3(CACNA1S):c.2695C>T (p.Leu899=) rs1336743984
NM_000069.3(CACNA1S):c.2698A>G (p.Arg900Gly) rs1661234855
NM_000069.3(CACNA1S):c.2700G>C (p.Arg900Ser)
NM_000069.3(CACNA1S):c.2700G>T (p.Arg900Ser) rs2102582533
NM_000069.3(CACNA1S):c.2708G>A (p.Arg903Gln) rs1452713683
NM_000069.3(CACNA1S):c.2708G>C (p.Arg903Pro) rs1452713683
NM_000069.3(CACNA1S):c.271T>C (p.Tyr91His)
NM_000069.3(CACNA1S):c.2737G>A (p.Gly913Arg)
NM_000069.3(CACNA1S):c.2740T>A (p.Leu914Met)
NM_000069.3(CACNA1S):c.2745+12C>T
NM_000069.3(CACNA1S):c.2745+15G>A
NM_000069.3(CACNA1S):c.2745+15G>C
NM_000069.3(CACNA1S):c.2745+16G>A
NM_000069.3(CACNA1S):c.2745+5G>A
NM_000069.3(CACNA1S):c.2745+9G>A rs1183235159
NM_000069.3(CACNA1S):c.2746-16G>A rs531717137
NM_000069.3(CACNA1S):c.2746-17_2746-14dup rs2102582037
NM_000069.3(CACNA1S):c.2746-19T>C
NM_000069.3(CACNA1S):c.2746-4C>T rs750533608
NM_000069.3(CACNA1S):c.2746-8G>A rs1572039133
NM_000069.3(CACNA1S):c.2752G>A (p.Val918Met)
NM_000069.3(CACNA1S):c.2753T>C (p.Val918Ala) rs1558065055
NM_000069.3(CACNA1S):c.2762T>C (p.Met921Thr)
NM_000069.3(CACNA1S):c.2767G>C (p.Val923Leu) rs571902899
NM_000069.3(CACNA1S):c.2770G>A (p.Ala924Thr) rs1442305463
NM_000069.3(CACNA1S):c.2775C>T (p.Ile925=) rs2102581879
NM_000069.3(CACNA1S):c.2793C>T (p.Ile931=)
NM_000069.3(CACNA1S):c.2808C>T (p.Thr936=)
NM_000069.3(CACNA1S):c.2812C>T (p.Leu938=)
NM_000069.3(CACNA1S):c.2812del (p.Leu938fs) rs1572038993
NM_000069.3(CACNA1S):c.2814A>G (p.Leu938=)
NM_000069.3(CACNA1S):c.2821A>C (p.Met941Leu)
NM_000069.3(CACNA1S):c.2829C>T (p.Ala943=)
NM_000069.3(CACNA1S):c.2831G>A (p.Cys944Tyr) rs1661217137
NM_000069.3(CACNA1S):c.2836G>C (p.Gly946Arg)
NM_000069.3(CACNA1S):c.2839G>C (p.Val947Leu) rs76460090
NM_000069.3(CACNA1S):c.2841C>A (p.Val947=)
NM_000069.3(CACNA1S):c.2847C>T (p.Leu949=)
NM_000069.3(CACNA1S):c.2850C>T (p.Phe950=)
NM_000069.3(CACNA1S):c.2853+17G>A
NM_000069.3(CACNA1S):c.2853+19G>A
NM_000069.3(CACNA1S):c.2853+1G>T
NM_000069.3(CACNA1S):c.2854-11_2854-10del rs780065077
NM_000069.3(CACNA1S):c.2854-2A>C rs1572036396
NM_000069.3(CACNA1S):c.2854-33CCTC[6] rs747117832
NM_000069.3(CACNA1S):c.2854-33CCTC[7]
NM_000069.3(CACNA1S):c.2854-4G>T rs1421864888
NM_000069.3(CACNA1S):c.2864T>C (p.Phe955Ser) rs1661089298
NM_000069.3(CACNA1S):c.2875G>A (p.Asp959Asn)
NM_000069.3(CACNA1S):c.2888T>C (p.Met963Thr) rs895181258
NM_000069.3(CACNA1S):c.2892A>G (p.Thr964=) rs1181877748
NM_000069.3(CACNA1S):c.2906+12A>G
NM_000069.3(CACNA1S):c.2906+17G>C
NM_000069.3(CACNA1S):c.2906+18C>A
NM_000069.3(CACNA1S):c.2906+5A>G
NM_000069.3(CACNA1S):c.2907-3C>T
NM_000069.3(CACNA1S):c.2907-5C>T
NM_000069.3(CACNA1S):c.2907-7G>C
NM_000069.3(CACNA1S):c.2907-9C>T
NM_000069.3(CACNA1S):c.2915A>G (p.Tyr972Cys)
NM_000069.3(CACNA1S):c.2920G>A (p.Val974Met) rs757840865
NM_000069.3(CACNA1S):c.2921T>G (p.Val974Gly)
NM_000069.3(CACNA1S):c.2932G>A (p.Gly978Arg) rs760596943
NM_000069.3(CACNA1S):c.2942T>C (p.Met981Thr) rs1661070471
NM_000069.3(CACNA1S):c.2945A>C (p.Gln982Pro)
NM_000069.3(CACNA1S):c.2952G>A (p.Glu984=) rs1553250091
NM_000069.3(CACNA1S):c.2955G>A (p.Leu985=)
NM_000069.3(CACNA1S):c.2964C>T (p.Arg988=)
NM_000069.3(CACNA1S):c.2965del (p.Glu989fs)
NM_000069.3(CACNA1S):c.2968T>G (p.Trp990Gly) rs1661068374
NM_000069.3(CACNA1S):c.296T>A (p.Ile99Asn) rs374127575
NM_000069.3(CACNA1S):c.2970G>A (p.Trp990Ter) rs1572035834
NM_000069.3(CACNA1S):c.2977A>G (p.Ser993Gly) rs2102575798
NM_000069.3(CACNA1S):c.2979C>T (p.Ser993=) rs146497999
NM_000069.3(CACNA1S):c.297T>C (p.Ile99=) rs202132932
NM_000069.3(CACNA1S):c.2980G>A (p.Asp994Asn)
NM_000069.3(CACNA1S):c.2988C>T (p.His996=)
NM_000069.3(CACNA1S):c.2991C>T (p.Phe997=)
NM_000069.3(CACNA1S):c.29G>A (p.Gly10Asp) rs1663157502
NM_000069.3(CACNA1S):c.3010A>T (p.Met1004Leu) rs2102575730
NM_000069.3(CACNA1S):c.3018_3021del (p.Leu1007fs)
NM_000069.3(CACNA1S):c.3025_3026del (p.Thr1009fs) rs1661065356
NM_000069.3(CACNA1S):c.3027G>T (p.Thr1009=)
NM_000069.3(CACNA1S):c.3040G>C (p.Glu1014Gln) rs776712220
NM_000069.3(CACNA1S):c.3043G>A (p.Gly1015Arg)
NM_000069.3(CACNA1S):c.3047G>A (p.Trp1016Ter)
NM_000069.3(CACNA1S):c.304G>T (p.Ala102Ser)
NM_000069.3(CACNA1S):c.3051T>C (p.Pro1017=)
NM_000069.3(CACNA1S):c.3053+11G>A
NM_000069.3(CACNA1S):c.3054-16C>G
NM_000069.3(CACNA1S):c.3054-16C>T
NM_000069.3(CACNA1S):c.3054-3del
NM_000069.3(CACNA1S):c.3054-8del
NM_000069.3(CACNA1S):c.3054-9C>T
NM_000069.3(CACNA1S):c.3057G>A (p.Leu1019=)
NM_000069.3(CACNA1S):c.3057G>C (p.Leu1019=)
NM_000069.3(CACNA1S):c.3071T>C (p.Ile1024Thr) rs978624647
NM_000069.3(CACNA1S):c.3076_3090del (p.Ser1026_Asp1030del)
NM_000069.3(CACNA1S):c.3083C>T (p.Ala1028Val) rs751604155
NM_000069.3(CACNA1S):c.3107A>G (p.Asn1036Ser)
NM_000069.3(CACNA1S):c.3108C>T (p.Asn1036=) rs773482623
NM_000069.3(CACNA1S):c.3112C>T (p.Arg1038Cys)
NM_000069.3(CACNA1S):c.3113G>T (p.Arg1038Leu) rs774884290
NM_000069.3(CACNA1S):c.3123G>A (p.Met1041Ile)
NM_000069.3(CACNA1S):c.3124G>A (p.Ala1042Thr) rs562504992
NM_000069.3(CACNA1S):c.3140T>A (p.Ile1047Asn)
NM_000069.3(CACNA1S):c.3141C>T (p.Ile1047=)
NM_000069.3(CACNA1S):c.314T>G (p.Ile105Ser) rs780307562
NM_000069.3(CACNA1S):c.3157G>A (p.Ala1053Thr) rs1558062351
NM_000069.3(CACNA1S):c.3159C>T (p.Ala1053=)
NM_000069.3(CACNA1S):c.3167T>C (p.Met1056Thr)
NM_000069.3(CACNA1S):c.3177C>T (p.Ile1059=) rs1553249999
NM_000069.3(CACNA1S):c.3185G>A (p.Gly1062Asp) rs1553249998
NM_000069.3(CACNA1S):c.3204C>G (p.Phe1068Leu) rs1005780872
NM_000069.3(CACNA1S):c.320C>T (p.Ala107Val)
NM_000069.3(CACNA1S):c.3214G>A (p.Gly1072Arg)
NM_000069.3(CACNA1S):c.3215G>A (p.Gly1072Glu)
NM_000069.3(CACNA1S):c.3219G>A (p.Glu1073=)
NM_000069.3(CACNA1S):c.3220A>G (p.Thr1074Ala)
NM_000069.3(CACNA1S):c.3221C>T (p.Thr1074Ile)
NM_000069.3(CACNA1S):c.3225G>A (p.Glu1075=)
NM_000069.3(CACNA1S):c.3240G>T (p.Glu1080Asp)
NM_000069.3(CACNA1S):c.3245A>G (p.Asp1082Gly) rs1558062219
NM_000069.3(CACNA1S):c.3255+10C>T rs1572035084
NM_000069.3(CACNA1S):c.3255+20G>A
NM_000069.3(CACNA1S):c.3255G>T (p.Gln1085His)
NM_000069.3(CACNA1S):c.3256-13G>T
NM_000069.3(CACNA1S):c.3256-16G>A
NM_000069.3(CACNA1S):c.3256C>G (p.Arg1086Gly) rs80338782
NM_000069.3(CACNA1S):c.3257G>A (p.Arg1086His) rs1800559
NM_000069.3(CACNA1S):c.3261A>C (p.Gln1087His)
NM_000069.3(CACNA1S):c.3261A>G (p.Gln1087=) rs34515088
NM_000069.3(CACNA1S):c.3262T>C (p.Cys1088Arg) rs1661020544
NM_000069.3(CACNA1S):c.3270G>A (p.Gln1090=)
NM_000069.3(CACNA1S):c.3272A>G (p.Tyr1091Cys) rs1661020089
NM_000069.3(CACNA1S):c.327CTT[1] (p.Phe110del) rs2102167501
NM_000069.3(CACNA1S):c.3285C>A (p.Ala1095=)
NM_000069.3(CACNA1S):c.3287G>T (p.Arg1096Leu) rs142102094
NM_000069.3(CACNA1S):c.3288C>A (p.Arg1096=)
NM_000069.3(CACNA1S):c.3294G>A (p.Leu1098=)
NM_000069.3(CACNA1S):c.32T>G (p.Leu11Arg)
NM_000069.3(CACNA1S):c.3315C>A (p.Asn1105Lys)
NM_000069.3(CACNA1S):c.3323A>G (p.Gln1108Arg)
NM_000069.3(CACNA1S):c.3337T>C (p.Tyr1113His) rs1553249924
NM_000069.3(CACNA1S):c.3348C>T (p.Thr1116=) rs2102573526
NM_000069.3(CACNA1S):c.3357C>T (p.Tyr1119=)
NM_000069.3(CACNA1S):c.3369G>A (p.Leu1123=) rs535424694
NM_000069.3(CACNA1S):c.336C>T (p.Phe112=)
NM_000069.3(CACNA1S):c.3381C>T (p.Leu1127=)
NM_000069.3(CACNA1S):c.3386T>C (p.Met1129Thr)
NM_000069.3(CACNA1S):c.33G>A (p.Leu11=)
NM_000069.3(CACNA1S):c.3401G>C (p.Cys1134Ser) rs1661013466
NM_000069.3(CACNA1S):c.3407G>A (p.Gly1136Asp) rs375919164
NM_000069.3(CACNA1S):c.3410T>G (p.Met1137Arg)
NM_000069.3(CACNA1S):c.3414+17A>G
NM_000069.3(CACNA1S):c.3414+2dup rs1661012107
NM_000069.3(CACNA1S):c.3414+8C>T
NM_000069.3(CACNA1S):c.3415-1G>A rs780724976
NM_000069.3(CACNA1S):c.3423C>T (p.Asn1141=)
NM_000069.3(CACNA1S):c.3425A>G (p.Gln1142Arg) rs139373152
NM_000069.3(CACNA1S):c.3427T>C (p.Ser1143Pro)
NM_000069.3(CACNA1S):c.3437T>C (p.Met1146Thr) rs763707356
NM_000069.3(CACNA1S):c.343G>A (p.Asp115Asn) rs1341944901
NM_000069.3(CACNA1S):c.3440A>G (p.Asn1147Ser)
NM_000069.3(CACNA1S):c.3442C>T (p.His1148Tyr) rs1553249775
NM_000069.3(CACNA1S):c.3447C>T (p.Ile1149=) rs763544900
NM_000069.3(CACNA1S):c.3453C>T (p.Asp1151=) rs2102571362
NM_000069.3(CACNA1S):c.3456C>T (p.Ile1152=) rs2102571355
NM_000069.3(CACNA1S):c.3459C>T (p.Leu1153=)
NM_000069.3(CACNA1S):c.3462T>A (p.Asn1154Lys)
NM_000069.3(CACNA1S):c.3467C>A (p.Ala1156Asp)
NM_000069.3(CACNA1S):c.3468C>G (p.Ala1156=)
NM_000069.3(CACNA1S):c.3472_3473del (p.Thr1158fs)
NM_000069.3(CACNA1S):c.3483C>T (p.Phe1161=)
NM_000069.3(CACNA1S):c.3487C>A (p.Leu1163Met)
NM_000069.3(CACNA1S):c.3493A>T (p.Met1165Leu)
NM_000069.3(CACNA1S):c.3499C>T (p.Leu1167Phe)
NM_000069.3(CACNA1S):c.3505C>T (p.Leu1169Phe)
NM_000069.3(CACNA1S):c.3510G>A (p.Met1170Ile)
NM_000069.3(CACNA1S):c.3513C>T (p.Ala1171=)
NM_000069.3(CACNA1S):c.3520G>A (p.Ala1174Thr)
NM_000069.3(CACNA1S):c.3525+19G>C
NM_000069.3(CACNA1S):c.3525+19G>T
NM_000069.3(CACNA1S):c.3525+1G>A rs1572033599
NM_000069.3(CACNA1S):c.3526-13T>A rs1660927487
NM_000069.3(CACNA1S):c.3526-2A>G rs797045031
NM_000069.3(CACNA1S):c.3526-5C>T
NM_000069.3(CACNA1S):c.3526-7T>G rs2102570172
NM_000069.3(CACNA1S):c.352C>T (p.Leu118=) rs2102167456
NM_000069.3(CACNA1S):c.3533T>A (p.Phe1178Tyr)
NM_000069.3(CACNA1S):c.3537A>G (p.Gly1179=) rs2102570132
NM_000069.3(CACNA1S):c.3540C>T (p.Asp1180=) rs2102570120
NM_000069.3(CACNA1S):c.355C>T (p.Arg119Cys)
NM_000069.3(CACNA1S):c.3564G>A (p.Leu1188=) rs781739099
NM_000069.3(CACNA1S):c.3567del (p.Ile1189fs)
NM_000069.3(CACNA1S):c.3569T>A (p.Val1190Asp) rs1405148658
NM_000069.3(CACNA1S):c.356G>A (p.Arg119His) rs749588662
NM_000069.3(CACNA1S):c.3581T>C (p.Ile1194Thr)
NM_000069.3(CACNA1S):c.3582C>T (p.Ile1194=)
NM_000069.3(CACNA1S):c.3585T>C (p.Ile1195=) rs1572033019
NM_000069.3(CACNA1S):c.3591C>T (p.Val1197=)
NM_000069.3(CACNA1S):c.3607G>A (p.Asp1203Asn)
NM_000069.3(CACNA1S):c.3609+10A>G rs1660923412
NM_000069.3(CACNA1S):c.3610-12T>G
NM_000069.3(CACNA1S):c.3610-15C>G
NM_000069.3(CACNA1S):c.3610-5C>T rs2102563925
NM_000069.3(CACNA1S):c.3610-6C>G
NM_000069.3(CACNA1S):c.3623C>T (p.Ser1208Phe)
NM_000069.3(CACNA1S):c.3630G>A (p.Gly1210=) rs1572029683
NM_000069.3(CACNA1S):c.3631G>A (p.Gly1211Arg)
NM_000069.3(CACNA1S):c.3632G>A (p.Gly1211Glu)
NM_000069.3(CACNA1S):c.3666+17C>A
NM_000069.3(CACNA1S):c.3666+17C>T
NM_000069.3(CACNA1S):c.3667-12G>A rs2102562465
NM_000069.3(CACNA1S):c.3667-16G>C
NM_000069.3(CACNA1S):c.3667-4G>T rs762497596
NM_000069.3(CACNA1S):c.3667-6C>T rs1660735748
NM_000069.3(CACNA1S):c.3667-7C>G
NM_000069.3(CACNA1S):c.3669C>G (p.Asp1223Glu) rs2102562430
NM_000069.3(CACNA1S):c.3671C>G (p.Pro1224Arg)
NM_000069.3(CACNA1S):c.3672A>G (p.Pro1224=) rs2102562413
NM_000069.3(CACNA1S):c.3674A>G (p.Asp1225Gly) rs1660734688
NM_000069.3(CACNA1S):c.3676G>A (p.Glu1226Lys)
NM_000069.3(CACNA1S):c.3680G>A (p.Ser1227Asn)
NM_000069.3(CACNA1S):c.3686G>A (p.Arg1229His) rs774416016
NM_000069.3(CACNA1S):c.3686G>C (p.Arg1229Pro) rs774416016
NM_000069.3(CACNA1S):c.3700T>A (p.Phe1234Ile) rs1660733125
NM_000069.3(CACNA1S):c.3707G>A (p.Arg1236His)
NM_000069.3(CACNA1S):c.3715C>G (p.Arg1239Gly) rs28930069
NM_000069.3(CACNA1S):c.3715C>T (p.Arg1239Cys)
NM_000069.3(CACNA1S):c.3716G>A (p.Arg1239His) rs28930068
NM_000069.3(CACNA1S):c.3720C>G (p.Val1240=)
NM_000069.3(CACNA1S):c.3720C>T (p.Val1240=) rs1293933730
NM_000069.3(CACNA1S):c.3727C>T (p.Leu1243=)
NM_000069.3(CACNA1S):c.3732C>A (p.Ile1244=) rs2102562223
NM_000069.3(CACNA1S):c.3741G>A (p.Leu1247=)
NM_000069.3(CACNA1S):c.3752_3754del (p.Glu1251del) rs1283443722
NM_000069.3(CACNA1S):c.3757G>A (p.Val1253Met) rs1660730259
NM_000069.3(CACNA1S):c.3757G>C (p.Val1253Leu)
NM_000069.3(CACNA1S):c.3759G>T (p.Val1253=)
NM_000069.3(CACNA1S):c.3760C>G (p.Arg1254Gly) rs200034567
NM_000069.3(CACNA1S):c.3760C>T (p.Arg1254Ter)
NM_000069.3(CACNA1S):c.3763A>G (p.Thr1255Ala) rs1660729628
NM_000069.3(CACNA1S):c.3766C>T (p.Leu1256Phe)
NM_000069.3(CACNA1S):c.3771G>A (p.Leu1257=) rs2102562124
NM_000069.3(CACNA1S):c.3772T>C (p.Trp1258Arg) rs1660729396
NM_000069.3(CACNA1S):c.3773G>A (p.Trp1258Ter) rs1660729290
NM_000069.3(CACNA1S):c.3774G>C (p.Trp1258Cys) rs1660729185
NM_000069.3(CACNA1S):c.3776C>T (p.Thr1259Met) rs376326495
NM_000069.3(CACNA1S):c.3794A>G (p.Gln1265Arg)
NM_000069.3(CACNA1S):c.3795+15C>G
NM_000069.3(CACNA1S):c.3795+4C>T
NM_000069.3(CACNA1S):c.3795+9G>C rs2102562042
NM_000069.3(CACNA1S):c.3796-10C>G
NM_000069.3(CACNA1S):c.3796-18C>G
NM_000069.3(CACNA1S):c.3796-3del
NM_000069.3(CACNA1S):c.3796-9G>C
NM_000069.3(CACNA1S):c.3796G>A (p.Ala1266Thr) rs2102561728
NM_000069.3(CACNA1S):c.3801A>G (p.Leu1267=) rs1257331415
NM_000069.3(CACNA1S):c.3802C>T (p.Pro1268Ser) rs921262693
NM_000069.3(CACNA1S):c.3806A>G (p.Tyr1269Cys)
NM_000069.3(CACNA1S):c.3808G>A (p.Val1270Met)
NM_000069.3(CACNA1S):c.3832T>G (p.Phe1278Val)
NM_000069.3(CACNA1S):c.3844G>T (p.Ala1282Ser) rs774300377
NM_000069.3(CACNA1S):c.3854G>A (p.Gly1285Asp)
NM_000069.3(CACNA1S):c.3857T>C (p.Met1286Thr)
NM_000069.3(CACNA1S):c.3861+13C>G
NM_000069.3(CACNA1S):c.3861+13C>T
NM_000069.3(CACNA1S):c.3861+14G>A rs200654730
NM_000069.3(CACNA1S):c.3861+14G>T rs200654730
NM_000069.3(CACNA1S):c.3861+15G>A
NM_000069.3(CACNA1S):c.3861+5G>A
NM_000069.3(CACNA1S):c.3861+8G>A
NM_000069.3(CACNA1S):c.3862-13T>C
NM_000069.3(CACNA1S):c.3862-17C>A
NM_000069.3(CACNA1S):c.3862-18G>A rs2102560860
NM_000069.3(CACNA1S):c.3864G>A (p.Met1288Ile)
NM_000069.3(CACNA1S):c.3873G>T (p.Lys1291Asn) rs1660695433
NM_000069.3(CACNA1S):c.3877G>A (p.Ala1293Thr)
NM_000069.3(CACNA1S):c.3885G>A (p.Val1295=) rs1660694623
NM_000069.3(CACNA1S):c.3908A>G (p.Asn1303Ser)
NM_000069.3(CACNA1S):c.390C>T (p.Val130=)
NM_000069.3(CACNA1S):c.3933A>G (p.Gln1311=)
NM_000069.3(CACNA1S):c.3934G>A (p.Ala1312Thr) rs2102560671
NM_000069.3(CACNA1S):c.394C>A (p.Leu132Met) rs377030324
NM_000069.3(CACNA1S):c.3953+11C>T
NM_000069.3(CACNA1S):c.3953+13C>T rs767630424
NM_000069.3(CACNA1S):c.3953+14G>A rs201077181
NM_000069.3(CACNA1S):c.3953+14G>T
NM_000069.3(CACNA1S):c.3953+19C>T
NM_000069.3(CACNA1S):c.3953+5G>A rs752722907
NM_000069.3(CACNA1S):c.3953+5G>T
NM_000069.3(CACNA1S):c.3954-16C>T
NM_000069.3(CACNA1S):c.3954-18G>A
NM_000069.3(CACNA1S):c.3954G>A (p.Arg1318=)
NM_000069.3(CACNA1S):c.3962C>A (p.Thr1321Lys)
NM_000069.3(CACNA1S):c.3975G>A (p.Trp1325Ter)
NM_000069.3(CACNA1S):c.398+6A>G rs1187491805
NM_000069.3(CACNA1S):c.399-16C>G
NM_000069.3(CACNA1S):c.399-16C>T
NM_000069.3(CACNA1S):c.399-17C>T
NM_000069.3(CACNA1S):c.399-20C>A
NM_000069.3(CACNA1S):c.399-20C>G
NM_000069.3(CACNA1S):c.399-5_399-3del
NM_000069.3(CACNA1S):c.399-5del
NM_000069.3(CACNA1S):c.3998G>A (p.Ser1333Asn) rs1030338556
NM_000069.3(CACNA1S):c.4001A>G (p.Tyr1334Cys)
NM_000069.3(CACNA1S):c.4011G>A (p.Leu1337=) rs1185048911
NM_000069.3(CACNA1S):c.4025C>A (p.Ser1342Ter) rs563795648
NM_000069.3(CACNA1S):c.4039G>C (p.Gly1347Arg) rs2102558476
NM_000069.3(CACNA1S):c.4040G>T (p.Gly1347Val)
NM_000069.3(CACNA1S):c.4043A>T (p.Glu1348Val)
NM_000069.3(CACNA1S):c.4047G>A (p.Glu1349=) rs765572810
NM_000069.3(CACNA1S):c.404T>C (p.Phe135Ser) rs1553252778
NM_000069.3(CACNA1S):c.4052C>T (p.Thr1351Ile)
NM_000069.3(CACNA1S):c.4059C>T (p.Gly1353=)
NM_000069.3(CACNA1S):c.4060A>C (p.Thr1354Pro)
NM_000069.3(CACNA1S):c.4079A>G (p.Tyr1360Cys)
NM_000069.3(CACNA1S):c.4094A>G (p.Tyr1365Cys)
NM_000069.3(CACNA1S):c.4109T>A (p.Phe1370Tyr)
NM_000069.3(CACNA1S):c.4113+19G>C rs2102558285
NM_000069.3(CACNA1S):c.4113+1G>A rs1558056376
NM_000069.3(CACNA1S):c.4113+1G>C rs1558056376
NM_000069.3(CACNA1S):c.4113+20C>T
NM_000069.3(CACNA1S):c.4113+5G>C
NM_000069.3(CACNA1S):c.4113+7_4113+8inv
NM_000069.3(CACNA1S):c.4114-10T>G
NM_000069.3(CACNA1S):c.4114-5T>A rs1421023094
NM_000069.3(CACNA1S):c.4114-7C>T
NM_000069.3(CACNA1S):c.4114G>T (p.Val1372Phe) rs1660614160
NM_000069.3(CACNA1S):c.4128T>C (p.Phe1376=) rs1572025819
NM_000069.3(CACNA1S):c.4132G>T (p.Ala1378Ser) rs1272205273
NM_000069.3(CACNA1S):c.4148A>G (p.Asn1383Ser)
NM_000069.3(CACNA1S):c.4154A>G (p.Asp1385Gly) rs1660612036
NM_000069.3(CACNA1S):c.4158C>T (p.Tyr1386=)
NM_000069.3(CACNA1S):c.4171T>A (p.Trp1391Arg) rs200062688
NM_000069.3(CACNA1S):c.4172G>A (p.Trp1391Ter)
NM_000069.3(CACNA1S):c.4173G>A (p.Trp1391Ter) rs761239255
NM_000069.3(CACNA1S):c.4176C>A (p.Ser1392=)
NM_000069.3(CACNA1S):c.4177A>G (p.Ile1393Val) rs2102557535
NM_000069.3(CACNA1S):c.4182G>A (p.Leu1394=)
NM_000069.3(CACNA1S):c.4182G>C (p.Leu1394=)
NM_000069.3(CACNA1S):c.4184del (p.Gly1395fs)
NM_000069.3(CACNA1S):c.4185C>T (p.Gly1395=)
NM_000069.3(CACNA1S):c.4189C>T (p.His1397Tyr) rs1184865188
NM_000069.3(CACNA1S):c.4191T>C (p.His1397=)
NM_000069.3(CACNA1S):c.4197G>A (p.Leu1399=)
NM_000069.3(CACNA1S):c.4197G>T (p.Leu1399=) rs961175031
NM_000069.3(CACNA1S):c.4210del (p.Ala1404fs) rs2102557481
NM_000069.3(CACNA1S):c.4219G>T (p.Ala1407Ser)
NM_000069.3(CACNA1S):c.4236G>A (p.Glu1412=)
NM_000069.3(CACNA1S):c.4241+9A>T rs1558056014
NM_000069.3(CACNA1S):c.4242-10C>T
NM_000069.3(CACNA1S):c.4242-14G>C
NM_000069.3(CACNA1S):c.4242-19T>A
NM_000069.3(CACNA1S):c.4242-20G>A
NM_000069.3(CACNA1S):c.4242-4G>T
NM_000069.3(CACNA1S):c.4242-7C>T
NM_000069.3(CACNA1S):c.4242G>A (p.Lys1414=) rs769933784
NM_000069.3(CACNA1S):c.4248A>G (p.Arg1416=) rs2102555712
NM_000069.3(CACNA1S):c.4250T>C (p.Ile1417Thr) rs372383822
NM_000069.3(CACNA1S):c.4263C>A (p.Asp1421Glu)
NM_000069.3(CACNA1S):c.4266G>A (p.Val1422=) rs2102555682
NM_000069.3(CACNA1S):c.4269G>C (p.Val1423=)
NM_000069.3(CACNA1S):c.4275G>A (p.Leu1425=) rs2102555664
NM_000069.3(CACNA1S):c.4276C>T (p.Leu1426=) rs1572024632
NM_000069.3(CACNA1S):c.4280G>A (p.Arg1427Lys)
NM_000069.3(CACNA1S):c.4295C>T (p.Pro1432Leu) rs1660566248
NM_000069.3(CACNA1S):c.429C>T (p.Asn143=) rs553580116
NM_000069.3(CACNA1S):c.4308G>A (p.Gly1436=)
NM_000069.3(CACNA1S):c.4308G>T (p.Gly1436=) rs758009532
NM_000069.3(CACNA1S):c.4309A>C (p.Lys1437Gln) rs752196801
NM_000069.3(CACNA1S):c.4312T>C (p.Phe1438Leu)
NM_000069.3(CACNA1S):c.4316G>A (p.Cys1439Tyr)
NM_000069.3(CACNA1S):c.4322A>G (p.His1441Arg)
NM_000069.3(CACNA1S):c.4325G>A (p.Arg1442Gln)
NM_000069.3(CACNA1S):c.4331C>T (p.Ala1444Val)
NM_000069.3(CACNA1S):c.4338+8G>C
NM_000069.3(CACNA1S):c.4339-10C>A
NM_000069.3(CACNA1S):c.4339C>A (p.Arg1447=)
NM_000069.3(CACNA1S):c.4339C>T (p.Arg1447Trp)
NM_000069.3(CACNA1S):c.4349G>A (p.Gly1450Asp)
NM_000069.3(CACNA1S):c.4350C>A (p.Gly1450=) rs761794209
NM_000069.3(CACNA1S):c.4353G>A (p.Met1451Ile) rs773780364
NM_000069.3(CACNA1S):c.435C>T (p.Ile145=)
NM_000069.3(CACNA1S):c.4362C>G (p.Pro1454=)
NM_000069.3(CACNA1S):c.436del (p.Gln146fs) rs2102164740
NM_000069.3(CACNA1S):c.4371C>T (p.Ser1457=)
NM_000069.3(CACNA1S):c.437A>G (p.Gln146Arg)
NM_000069.3(CACNA1S):c.4405G>T (p.Ala1469Ser)
NM_000069.3(CACNA1S):c.4410G>A (p.Leu1470=)
NM_000069.3(CACNA1S):c.4410G>C (p.Leu1470=)
NM_000069.3(CACNA1S):c.4413C>T (p.Val1471=) rs2102554924
NM_000069.3(CACNA1S):c.4415G>T (p.Arg1472Leu)
NM_000069.3(CACNA1S):c.4416C>T (p.Arg1472=)
NM_000069.3(CACNA1S):c.4418C>T (p.Thr1473Met)
NM_000069.3(CACNA1S):c.4419G>A (p.Thr1473=) rs540448406
NM_000069.3(CACNA1S):c.4419G>C (p.Thr1473=) rs540448406
NM_000069.3(CACNA1S):c.4420G>A (p.Ala1474Thr)
NM_000069.3(CACNA1S):c.4425C>T (p.Leu1475=) rs1553248697
NM_000069.3(CACNA1S):c.443A>T (p.His148Leu)
NM_000069.3(CACNA1S):c.4441+13del
NM_000069.3(CACNA1S):c.4441+15C>A
NM_000069.3(CACNA1S):c.4441+17A>G
NM_000069.3(CACNA1S):c.4441+9G>A rs1222596828
NM_000069.3(CACNA1S):c.4442-13T>G
NM_000069.3(CACNA1S):c.4442-2A>G rs2102553716
NM_000069.3(CACNA1S):c.4442G>A (p.Gly1481Asp)
NM_000069.3(CACNA1S):c.4449T>C (p.Phe1483=) rs2102553704
NM_000069.3(CACNA1S):c.4452G>A (p.Glu1484=) rs2102553700
NM_000069.3(CACNA1S):c.4455G>A (p.Gln1485=)
NM_000069.3(CACNA1S):c.4456G>A (p.Ala1486Thr)
NM_000069.3(CACNA1S):c.4458C>T (p.Ala1486=) rs2102553688
NM_000069.3(CACNA1S):c.4460A>G (p.Asn1487Ser)
NM_000069.3(CACNA1S):c.4461C>A (p.Asn1487Lys) rs149668892
NM_000069.3(CACNA1S):c.4467G>A (p.Glu1489=) rs1293597531
NM_000069.3(CACNA1S):c.4472G>A (p.Arg1491Lys) rs2102553652
NM_000069.3(CACNA1S):c.4504A>G (p.Ser1502Gly)
NM_000069.3(CACNA1S):c.4506C>T (p.Ser1502=)
NM_000069.3(CACNA1S):c.4509G>A (p.Met1503Ile)
NM_000069.3(CACNA1S):c.4517T>G (p.Leu1506Trp)
NM_000069.3(CACNA1S):c.4543+18G>A
NM_000069.3(CACNA1S):c.4543+19G>A
NM_000069.3(CACNA1S):c.4543+2T>C rs1572023336
NM_000069.3(CACNA1S):c.4544-16G>A
NM_000069.3(CACNA1S):c.4551G>A (p.Glu1517=)
NM_000069.3(CACNA1S):c.4565A>G (p.Lys1522Arg)
NM_000069.3(CACNA1S):c.4569C>G (p.Phe1523Leu) rs995172326
NM_000069.3(CACNA1S):c.4573G>A (p.Ala1525Thr) rs760097708
NM_000069.3(CACNA1S):c.4596C>T (p.His1532=)
NM_000069.3(CACNA1S):c.460A>G (p.Ser154Gly) rs761768992
NM_000069.3(CACNA1S):c.4610T>C (p.Met1537Thr)
NM_000069.3(CACNA1S):c.4616G>A (p.Arg1539His) rs774256022
NM_000069.3(CACNA1S):c.4617C>T (p.Arg1539=) rs1572023003
NM_000069.3(CACNA1S):c.4618C>G (p.Gln1540Glu) rs1351956022
NM_000069.3(CACNA1S):c.4618C>T (p.Gln1540Ter)
NM_000069.3(CACNA1S):c.461G>A (p.Ser154Asn) rs1662254411
NM_000069.3(CACNA1S):c.4620A>G (p.Gln1540=) rs1300838444
NM_000069.3(CACNA1S):c.462C>G (p.Ser154Arg)
NM_000069.3(CACNA1S):c.4633G>A (p.Gly1545Ser)
NM_000069.3(CACNA1S):c.4634G>T (p.Gly1545Val)
NM_000069.3(CACNA1S):c.4637A>G (p.Tyr1546Cys)
NM_000069.3(CACNA1S):c.4640G>A (p.Arg1547Gln)
NM_000069.3(CACNA1S):c.4641G>T (p.Arg1547=)
NM_000069.3(CACNA1S):c.4647G>C (p.Lys1549Asn)
NM_000069.3(CACNA1S):c.4650G>C (p.Lys1550Asn)
NM_000069.3(CACNA1S):c.4654A>G (p.Ile1552Val)
NM_000069.3(CACNA1S):c.4660C>A (p.Gln1554Lys) rs1660496585
NM_000069.3(CACNA1S):c.4668+14A>G
NM_000069.3(CACNA1S):c.4668+20del
NM_000069.3(CACNA1S):c.4669-12C>T
NM_000069.3(CACNA1S):c.4669-6C>T
NM_000069.3(CACNA1S):c.466G>A (p.Gly156Arg)
NM_000069.3(CACNA1S):c.4672G>A (p.Gly1558Arg)
NM_000069.3(CACNA1S):c.4674G>C (p.Gly1558=) rs2102549438
NM_000069.3(CACNA1S):c.4692A>G (p.Glu1564=)
NM_000069.3(CACNA1S):c.470C>G (p.Ala157Gly) rs1662254049
NM_000069.3(CACNA1S):c.4714C>T (p.Arg1572Cys)
NM_000069.3(CACNA1S):c.4731C>A (p.Asp1577Glu) rs202120583
NM_000069.3(CACNA1S):c.4737T>C (p.Ala1579=) rs2102549285
NM_000069.3(CACNA1S):c.4740T>A (p.Ala1580=)
NM_000069.3(CACNA1S):c.474C>T (p.Gly158=)
NM_000069.3(CACNA1S):c.4760C>A (p.Ala1587Asp) rs749495704
NM_000069.3(CACNA1S):c.4767G>A (p.Val1589=) rs2102549218
NM_000069.3(CACNA1S):c.4775C>G (p.Ala1592Gly)
NM_000069.3(CACNA1S):c.4778T>C (p.Met1593Thr) rs781500916
NM_000069.3(CACNA1S):c.4794C>G (p.Phe1598Leu)
NM_000069.3(CACNA1S):c.4797+10A>G
NM_000069.3(CACNA1S):c.4797+1G>A rs1323823133
NM_000069.3(CACNA1S):c.4798-2A>G rs1428157373
NM_000069.3(CACNA1S):c.4798-5C>G
NM_000069.3(CACNA1S):c.4798-5C>T rs375500585
NM_000069.3(CACNA1S):c.4798-7C>T rs753513483
NM_000069.3(CACNA1S):c.47C>T (p.Pro16Leu)
NM_000069.3(CACNA1S):c.4803T>C (p.Thr1601=)
NM_000069.3(CACNA1S):c.4810C>A (p.Leu1604Met) rs144059385
NM_000069.3(CACNA1S):c.4810C>T (p.Leu1604=)
NM_000069.3(CACNA1S):c.4819C>T (p.Gln1607Ter)
NM_000069.3(CACNA1S):c.4827C>T (p.Asp1609=) rs746100808
NM_000069.3(CACNA1S):c.4832_4849dup (p.Asn1616_Ser1617insPheLeuGluArgThrAsn)
NM_000069.3(CACNA1S):c.4834del (p.Leu1612fs) rs2102547896
NM_000069.3(CACNA1S):c.4835T>C (p.Leu1612Pro)
NM_000069.3(CACNA1S):c.4836G>A (p.Leu1612=)
NM_000069.3(CACNA1S):c.4836G>C (p.Leu1612=)
NM_000069.3(CACNA1S):c.4847A>G (p.Asn1616Ser)
NM_000069.3(CACNA1S):c.4850C>A (p.Ser1617Tyr)
NM_000069.3(CACNA1S):c.4857C>G (p.Pro1619=) rs2102547833
NM_000069.3(CACNA1S):c.4860dup (p.Val1621fs) rs761214441
NM_000069.3(CACNA1S):c.4871_4874del (p.Asn1624fs) rs1572019465
NM_000069.3(CACNA1S):c.4872T>C (p.Asn1624=) rs2102547760
NM_000069.3(CACNA1S):c.4881C>A (p.Pro1627=) rs919423482
NM_000069.3(CACNA1S):c.4885C>G (p.Gln1629Glu)
NM_000069.3(CACNA1S):c.4893T>G (p.Ala1631=) rs1572019425
NM_000069.3(CACNA1S):c.4908A>G (p.Glu1636=) rs1460660235
NM_000069.3(CACNA1S):c.4915G>A (p.Glu1639Lys) rs758332515
NM_000069.3(CACNA1S):c.4915G>C (p.Glu1639Gln) rs758332515
NM_000069.3(CACNA1S):c.4924G>A (p.Val1642Ile)
NM_000069.3(CACNA1S):c.493A>G (p.Arg165Gly)
NM_000069.3(CACNA1S):c.4940T>C (p.Phe1647Ser) rs2102547613
NM_000069.3(CACNA1S):c.4941C>A (p.Phe1647Leu)
NM_000069.3(CACNA1S):c.4947del (p.Asp1650fs) rs772130841
NM_000069.3(CACNA1S):c.494G>A (p.Arg165Lys) rs2102164633
NM_000069.3(CACNA1S):c.4955G>A (p.Arg1652His)
NM_000069.3(CACNA1S):c.4956C>T (p.Arg1652=) rs775497469
NM_000069.3(CACNA1S):c.4957A>G (p.Thr1653Ala) rs1660353768
NM_000069.3(CACNA1S):c.4966C>T (p.Leu1656=)
NM_000069.3(CACNA1S):c.4967del (p.Leu1656fs)
NM_000069.3(CACNA1S):c.4972C>G (p.Arg1658Gly) rs147392278
NM_000069.3(CACNA1S):c.4972_4973delinsTA (p.Arg1658Tyr) rs1553248123
NM_000069.3(CACNA1S):c.497C>T (p.Ala166Val)
NM_000069.3(CACNA1S):c.4998C>T (p.Ala1666=) rs929593930
NM_000069.3(CACNA1S):c.5001T>C (p.Asn1667=)
NM_000069.3(CACNA1S):c.5004C>G (p.Val1668=)
NM_000069.3(CACNA1S):c.5005G>A (p.Ala1669Thr) rs199989324
NM_000069.3(CACNA1S):c.5010T>C (p.Tyr1670=)
NM_000069.3(CACNA1S):c.5016C>T (p.Asn1672=) rs1660347602
NM_000069.3(CACNA1S):c.5020_5034dup (p.Ser1678_His1679insAsnHisSerAsnSer)
NM_000069.3(CACNA1S):c.5025T>C (p.His1675=)
NM_000069.3(CACNA1S):c.5045C>T (p.Ser1682Phe)
NM_000069.3(CACNA1S):c.5048+13A>G
NM_000069.3(CACNA1S):c.5048+18C>T
NM_000069.3(CACNA1S):c.5049-12C>G
NM_000069.3(CACNA1S):c.5049-17C>G
NM_000069.3(CACNA1S):c.5049-6T>A
NM_000069.3(CACNA1S):c.5049-7A>C
NM_000069.3(CACNA1S):c.5064G>A (p.Arg1688=)
NM_000069.3(CACNA1S):c.5077G>A (p.Glu1693Lys)
NM_000069.3(CACNA1S):c.5081C>G (p.Thr1694Arg)
NM_000069.3(CACNA1S):c.5082A>G (p.Thr1694=) rs2102541709
NM_000069.3(CACNA1S):c.5088G>A (p.Thr1696=)
NM_000069.3(CACNA1S):c.5091T>A (p.Pro1697=) rs1027512934
NM_000069.3(CACNA1S):c.5094T>C (p.Ala1698=) rs2102541589
NM_000069.3(CACNA1S):c.5101G>A (p.Gly1701Arg) rs1660204682
NM_000069.3(CACNA1S):c.5102G>C (p.Gly1701Ala) rs2102541566
NM_000069.3(CACNA1S):c.5104C>T (p.Arg1702Ter) rs550371466
NM_000069.3(CACNA1S):c.5105G>A (p.Arg1702Gln) rs201310235
NM_000069.3(CACNA1S):c.5105G>C (p.Arg1702Pro) rs201310235
NM_000069.3(CACNA1S):c.5118A>G (p.Gln1706=) rs2102541479
NM_000069.3(CACNA1S):c.5120C>T (p.Pro1707Leu)
NM_000069.3(CACNA1S):c.5125A>G (p.Arg1709Gly) rs1660201407
NM_000069.3(CACNA1S):c.5127G>C (p.Arg1709Ser)
NM_000069.3(CACNA1S):c.5129T>C (p.Val1710Ala) rs1189622818
NM_000069.3(CACNA1S):c.5134+10T>G rs1572014824
NM_000069.3(CACNA1S):c.5134+14G>A
NM_000069.3(CACNA1S):c.5134+15T>C
NM_000069.3(CACNA1S):c.5134+7C>T
NM_000069.3(CACNA1S):c.5135-12T>G
NM_000069.3(CACNA1S):c.5135-17C>T
NM_000069.3(CACNA1S):c.5135-6A>G rs1572012951
NM_000069.3(CACNA1S):c.5139C>T (p.Pro1713=)
NM_000069.3(CACNA1S):c.5142C>A (p.His1714Gln) rs1558048972
NM_000069.3(CACNA1S):c.514C>A (p.Pro172Thr) rs370041629
NM_000069.3(CACNA1S):c.514C>T (p.Pro172Ser)
NM_000069.3(CACNA1S):c.5169G>A (p.Lys1723=)
NM_000069.3(CACNA1S):c.5178G>T (p.Leu1726=)
NM_000069.3(CACNA1S):c.517C>T (p.Leu173Phe)
NM_000069.3(CACNA1S):c.5199A>C (p.Arg1733Ser)
NM_000069.3(CACNA1S):c.5199A>G (p.Arg1733=) rs1490186766
NM_000069.3(CACNA1S):c.5207C>T (p.Ala1736Val)
NM_000069.3(CACNA1S):c.5209_5226+3dup rs1660129870
NM_000069.3(CACNA1S):c.5215G>A (p.Ala1739Thr)
NM_000069.3(CACNA1S):c.5215G>T (p.Ala1739Ser)
NM_000069.3(CACNA1S):c.5219C>T (p.Pro1740Leu)
NM_000069.3(CACNA1S):c.5222G>T (p.Cys1741Phe)
NM_000069.3(CACNA1S):c.5223C>A (p.Cys1741Ter)
NM_000069.3(CACNA1S):c.5226+1G>A
NM_000069.3(CACNA1S):c.5227-16T>C
NM_000069.3(CACNA1S):c.5227-2del rs1660108555
NM_000069.3(CACNA1S):c.5227-6G>A
NM_000069.3(CACNA1S):c.5227-8T>C
NM_000069.3(CACNA1S):c.5229C>A (p.Cys1743Ter) rs1434902604
NM_000069.3(CACNA1S):c.5229C>T (p.Cys1743=)
NM_000069.3(CACNA1S):c.5233A>C (p.Arg1745=)
NM_000069.3(CACNA1S):c.523C>A (p.Leu175Met)
NM_000069.3(CACNA1S):c.5248A>C (p.Met1750Leu) rs771065920
NM_000069.3(CACNA1S):c.5251C>T (p.Pro1751Ser)
NM_000069.3(CACNA1S):c.5254G>A (p.Glu1752Lys)
NM_000069.3(CACNA1S):c.525G>T (p.Leu175=) rs1452693805
NM_000069.3(CACNA1S):c.5267G>A (p.Ser1756Asn) rs777977731
NM_000069.3(CACNA1S):c.526G>C (p.Val176Leu) rs571114435
NM_000069.3(CACNA1S):c.5278G>T (p.Gly1760Trp)
NM_000069.3(CACNA1S):c.5279G>C (p.Gly1760Ala) rs554208789
NM_000069.3(CACNA1S):c.5280G>A (p.Gly1760=)
NM_000069.3(CACNA1S):c.5280G>T (p.Gly1760=)
NM_000069.3(CACNA1S):c.5290GAG[1] (p.Glu1765del)
NM_000069.3(CACNA1S):c.5292G>A (p.Glu1764=)
NM_000069.3(CACNA1S):c.5293_5294delinsAG (p.Glu1765Arg)
NM_000069.3(CACNA1S):c.5299C>T (p.Pro1767Ser) rs200434921
NM_000069.3(CACNA1S):c.5300C>G (p.Pro1767Arg)
NM_000069.3(CACNA1S):c.5301C>A (p.Pro1767=)
NM_000069.3(CACNA1S):c.5303A>G (p.His1768Arg) rs1255660415
NM_000069.3(CACNA1S):c.5309G>A (p.Arg1770Lys) rs1558048332
NM_000069.3(CACNA1S):c.5312G>A (p.Ser1771Asn)
NM_000069.3(CACNA1S):c.5322G>A (p.Glu1774=) rs377099101
NM_000069.3(CACNA1S):c.5335T>G (p.Cys1779Gly) rs370520150
NM_000069.3(CACNA1S):c.5340A>C (p.Ser1780=)
NM_000069.3(CACNA1S):c.5341G>C (p.Ala1781Pro)
NM_000069.3(CACNA1S):c.5344C>G (p.Pro1782Ala)
NM_000069.3(CACNA1S):c.5345C>A (p.Pro1782Gln)
NM_000069.3(CACNA1S):c.5356C>T (p.Leu1786=) rs371876697
NM_000069.3(CACNA1S):c.535G>T (p.Val179Leu)
NM_000069.3(CACNA1S):c.5370+16G>C
NM_000069.3(CACNA1S):c.5370+5G>A rs762200667
NM_000069.3(CACNA1S):c.5371-3C>T
NM_000069.3(CACNA1S):c.5380C>T (p.Arg1794Ter)
NM_000069.3(CACNA1S):c.5388C>T (p.Gly1796=) rs1553247345
NM_000069.3(CACNA1S):c.5394C>A (p.Gly1798=) rs1558047794
NM_000069.3(CACNA1S):c.5394C>G (p.Gly1798=)
NM_000069.3(CACNA1S):c.5399_5400inv (p.Leu1800Ser)
NM_000069.3(CACNA1S):c.5400G>A (p.Leu1800=)
NM_000069.3(CACNA1S):c.541+10A>G rs1235748457
NM_000069.3(CACNA1S):c.541+16C>A
NM_000069.3(CACNA1S):c.541+17C>T
NM_000069.3(CACNA1S):c.541+19G>A
NM_000069.3(CACNA1S):c.541+3G>A rs1662249692
NM_000069.3(CACNA1S):c.541+9C>T rs375541532
NM_000069.3(CACNA1S):c.5415C>T (p.Asn1805=) rs1572010898
NM_000069.3(CACNA1S):c.542-4G>A rs2102164152
NM_000069.3(CACNA1S):c.542-9C>T rs767627454
NM_000069.3(CACNA1S):c.5421C>T (p.Ile1807=)
NM_000069.3(CACNA1S):c.543C>T (p.Ser181=) rs1188781560
NM_000069.3(CACNA1S):c.5448T>A (p.Asp1816Glu)
NM_000069.3(CACNA1S):c.544C>T (p.Leu182=)
NM_000069.3(CACNA1S):c.5462A>G (p.Glu1821Gly) rs1057524423
NM_000069.3(CACNA1S):c.5469G>A (p.Glu1823=)
NM_000069.3(CACNA1S):c.5473G>A (p.Val1825Met)
NM_000069.3(CACNA1S):c.5480T>A (p.Ile1827Asn) rs373693197
NM_000069.3(CACNA1S):c.5490_5497del (p.Leu1832fs) rs554596425
NM_000069.3(CACNA1S):c.5493G>A (p.Glu1831=)
NM_000069.3(CACNA1S):c.54G>A (p.Lys18=) rs369253685
NM_000069.3(CACNA1S):c.5506C>A (p.Arg1836=) rs926000507
NM_000069.3(CACNA1S):c.5506C>T (p.Arg1836Ter)
NM_000069.3(CACNA1S):c.5507G>A (p.Arg1836Gln) rs368214163
NM_000069.3(CACNA1S):c.5510A>G (p.Glu1837Gly) rs200765341
NM_000069.3(CACNA1S):c.5514C>T (p.Ala1838=)
NM_000069.3(CACNA1S):c.5520G>A (p.Glu1840=) rs1042379
NM_000069.3(CACNA1S):c.5531G>A (p.Ser1844Asn) rs145195149
NM_000069.3(CACNA1S):c.5531G>C (p.Ser1844Thr)
NM_000069.3(CACNA1S):c.5534C>T (p.Ser1845Phe) rs2102535354
NM_000069.3(CACNA1S):c.5543G>A (p.Cys1848Tyr)
NM_000069.3(CACNA1S):c.5550C>T (p.Asn1850=)
NM_000069.3(CACNA1S):c.5553C>T (p.Leu1851=)
NM_000069.3(CACNA1S):c.5563C>T (p.Leu1855=)
NM_000069.3(CACNA1S):c.5565G>A (p.Leu1855=)
NM_000069.3(CACNA1S):c.5574C>T (p.Leu1858=) rs756090938
NM_000069.3(CACNA1S):c.5576A>G (p.Asp1859Gly) rs1057524424
NM_000069.3(CACNA1S):c.5583C>G (p.His1861Gln) rs764110964
NM_000069.3(CACNA1S):c.5587G>A (p.Gly1863Ser)
NM_000069.3(CACNA1S):c.5593del (p.Gln1865fs) rs139276856
NM_000069.3(CACNA1S):c.5595_5600del (p.Gln1865_Thr1867delinsHis)
NM_000069.3(CACNA1S):c.5606T>C (p.Ile1869Thr) rs1660054479
NM_000069.3(CACNA1S):c.5611C>T (p.Pro1871Ser)
NM_000069.3(CACNA1S):c.5612C>T (p.Pro1871Leu) rs1553247246
NM_000069.3(CACNA1S):c.5621G>T (p.Ter1874Leu) rs1453298040
NM_000069.3(CACNA1S):c.564del (p.Ile189fs) rs1553252746
NM_000069.3(CACNA1S):c.574_575del (p.Ala192fs)
NM_000069.3(CACNA1S):c.579G>T (p.Met193Ile)
NM_000069.3(CACNA1S):c.57A>C (p.Pro19=)
NM_000069.3(CACNA1S):c.582C>T (p.Leu194=) rs1333426227
NM_000069.3(CACNA1S):c.586C>T (p.Leu196Phe) rs1402361054
NM_000069.3(CACNA1S):c.58G>A (p.Val20Ile)
NM_000069.3(CACNA1S):c.599C>A (p.Ala200Asp)
NM_000069.3(CACNA1S):c.600C>T (p.Ala200=)
NM_000069.3(CACNA1S):c.606G>C (p.Leu202=)
NM_000069.3(CACNA1S):c.609C>G (p.Val203=)
NM_000069.3(CACNA1S):c.609C>T (p.Val203=) rs1477834243
NM_000069.3(CACNA1S):c.60T>A (p.Val20=) rs2102194007
NM_000069.3(CACNA1S):c.610C>G (p.Leu204Val) rs753823016
NM_000069.3(CACNA1S):c.618G>A (p.Met206Ile)
NM_000069.3(CACNA1S):c.629dup (p.Tyr210Ter)
NM_000069.3(CACNA1S):c.630T>C (p.Tyr210=)
NM_000069.3(CACNA1S):c.632C>T (p.Ala211Val) rs763260505
NM_000069.3(CACNA1S):c.639C>T (p.Ile213=) rs1229722414
NM_000069.3(CACNA1S):c.642G>C (p.Gly214=)
NM_000069.3(CACNA1S):c.648G>A (p.Glu216=) rs200633947
NM_000069.3(CACNA1S):c.663G>A (p.Lys221=)
NM_000069.3(CACNA1S):c.663G>C (p.Lys221Asn) rs1662237951
NM_000069.3(CACNA1S):c.671A>G (p.Lys224Arg)
NM_000069.3(CACNA1S):c.685A>G (p.Ile229Val) rs1662236680
NM_000069.3(CACNA1S):c.694+10del rs2102163766
NM_000069.3(CACNA1S):c.694+8C>A
NM_000069.3(CACNA1S):c.695-12T>C
NM_000069.3(CACNA1S):c.695-13C>A rs1434711051
NM_000069.3(CACNA1S):c.695-14C>T rs1262968798
NM_000069.3(CACNA1S):c.695-6del rs748832613
NM_000069.3(CACNA1S):c.699C>A (p.Ile233=) rs756008578
NM_000069.3(CACNA1S):c.705C>G (p.Ala235=)
NM_000069.3(CACNA1S):c.708G>A (p.Thr236=)
NM_000069.3(CACNA1S):c.718G>A (p.Glu240Lys)
NM_000069.3(CACNA1S):c.728C>T (p.Ser243Leu)
NM_000069.3(CACNA1S):c.730C>T (p.Pro244Ser) rs2102160639
NM_000069.3(CACNA1S):c.732del (p.Cys245fs) rs1558079311
NM_000069.3(CACNA1S):c.738C>G (p.Ala246=)
NM_000069.3(CACNA1S):c.744G>A (p.Thr248=)
NM_000069.3(CACNA1S):c.744G>C (p.Thr248=) rs373609219
NM_000069.3(CACNA1S):c.754C>T (p.Arg252Cys)
NM_000069.3(CACNA1S):c.756C>T (p.Arg252=)
NM_000069.3(CACNA1S):c.756_758dup (p.Arg253_Cys254insArg)
NM_000069.3(CACNA1S):c.762C>T (p.Cys254=) rs1232779475
NM_000069.3(CACNA1S):c.768C>T (p.Ile256=) rs2102160511
NM_000069.3(CACNA1S):c.770A>G (p.Asn257Ser)
NM_000069.3(CACNA1S):c.773G>A (p.Gly258Asp) rs35534614
NM_000069.3(CACNA1S):c.773G>T (p.Gly258Val) rs35534614
NM_000069.3(CACNA1S):c.774C>T (p.Gly258=) rs2102160480
NM_000069.3(CACNA1S):c.786G>C (p.Arg262=)
NM_000069.3(CACNA1S):c.787G>A (p.Gly263Ser)
NM_000069.3(CACNA1S):c.789C>T (p.Gly263=) rs368173398
NM_000069.3(CACNA1S):c.78G>A (p.Arg26=) rs1663154229
NM_000069.3(CACNA1S):c.78del (p.Arg26fs) rs2102193989
NM_000069.3(CACNA1S):c.790G>A (p.Gly264Ser)
NM_000069.3(CACNA1S):c.794G>A (p.Trp265Ter)
NM_000069.3(CACNA1S):c.818C>T (p.Thr273Ile) rs2102160364
NM_000069.3(CACNA1S):c.819C>T (p.Thr273=) rs2102160359
NM_000069.3(CACNA1S):c.81A>G (p.Pro27=)
NM_000069.3(CACNA1S):c.81A>T (p.Pro27=)
NM_000069.3(CACNA1S):c.825C>T (p.Phe275=)
NM_000069.3(CACNA1S):c.82C>A (p.Pro28Thr) rs1297380219
NM_000069.3(CACNA1S):c.831C>T (p.Asn277=) rs2102160322
NM_000069.3(CACNA1S):c.836G>A (p.Gly279Asp) rs868243518
NM_000069.3(CACNA1S):c.853G>A (p.Val285Met)
NM_000069.3(CACNA1S):c.853G>C (p.Val285Leu)
NM_000069.3(CACNA1S):c.858_860dup (p.Tyr286_Gln287insHis) rs2102160234
NM_000069.3(CACNA1S):c.85C>G (p.Arg29Gly) rs577022740
NM_000069.3(CACNA1S):c.85del (p.Arg29fs) rs2102193959
NM_000069.3(CACNA1S):c.867T>C (p.Ile289=) rs1572059982
NM_000069.3(CACNA1S):c.871A>G (p.Met291Val)
NM_000069.3(CACNA1S):c.877G>A (p.Gly293Arg)
NM_000069.3(CACNA1S):c.884C>A (p.Thr295Asn) rs2102160120
NM_000069.3(CACNA1S):c.897C>G (p.Tyr299Ter) rs1572059904
NM_000069.3(CACNA1S):c.900+11G>A
NM_000069.3(CACNA1S):c.900+15G>A
NM_000069.3(CACNA1S):c.900+9G>T
NM_000069.3(CACNA1S):c.901-10T>C rs2102158289
NM_000069.3(CACNA1S):c.901-15T>C
NM_000069.3(CACNA1S):c.901-16C>T
NM_000069.3(CACNA1S):c.901-19A>C
NM_000069.3(CACNA1S):c.911C>G (p.Ala304Gly)
NM_000069.3(CACNA1S):c.916G>A (p.Gly306Arg)
NM_000069.3(CACNA1S):c.916G>T (p.Gly306Trp) rs1484525295
NM_000069.3(CACNA1S):c.91T>C (p.Leu31=) rs2102193927
NM_000069.3(CACNA1S):c.930C>T (p.Pro310=) rs1662091024
NM_000069.3(CACNA1S):c.945C>T (p.Val315=)
NM_000069.3(CACNA1S):c.948C>T (p.Thr316=)
NM_000069.3(CACNA1S):c.951C>A (p.Leu317=) rs773209639
NM_000069.3(CACNA1S):c.955T>C (p.Leu319=)
NM_000069.3(CACNA1S):c.975C>T (p.Ile325=) rs1572058858
NM_000069.3(CACNA1S):c.978C>T (p.Leu326=) rs2102158094
NM_000069.3(CACNA1S):c.982C>A (p.Leu328Met) rs1558078309
NM_000069.3(CACNA1S):c.983T>C (p.Leu328Pro)
NM_000069.3(CACNA1S):c.9A>T (p.Pro3=) rs765855755

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