ClinVar Miner

List of variants studied for Thyrotoxic periodic paralysis, susceptibility to, 1

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ClinVar version:
Total variants: 342
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HGVS dbSNP gnomAD frequency
NM_000069.2(CACNA1S):c.-476G>A rs2281845 0.50680
NM_000069.3(CACNA1S):c.258+57G>A rs1325310 0.28632
NM_000069.2(CACNA1S):c.-231A>G rs4506487 0.28191
NM_000069.3(CACNA1S):c.5399T>C (p.Leu1800Ser) rs12139527 0.24484
NM_000069.3(CACNA1S):c.1564C>T (p.Leu522=) rs4915476 0.23047
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.-83C>T rs116071603 0.01915
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.-68T>C rs140748567 0.00558
NM_000069.3(CACNA1S):c.252C>T (p.Leu84=) rs112868209 0.00555
NM_000069.3(CACNA1S):c.*310A>T rs190783634 0.00503
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.-60A>G rs145803564 0.00349
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.4686T>C (p.Ile1562=) rs138423302 0.00170
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.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.3796-11C>T rs369565379 0.00061
NM_000069.3(CACNA1S):c.1948+10C>G rs201173419 0.00059
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.4339-14G>A rs200570483 0.00051
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.1948+18G>A rs113175669 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.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.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.258+6A>G rs376899610 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.4377C>T (p.Gly1459=) rs138189035 0.00015
NM_000069.3(CACNA1S):c.4340G>A (p.Arg1447Gln) rs377474103 0.00014
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.1256G>A (p.Arg419His) rs370861322 0.00011
NM_000069.3(CACNA1S):c.1669C>T (p.Arg557Cys) rs756612471 0.00011
NM_000069.3(CACNA1S):c.2296C>A (p.Leu766Met) rs771865391 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.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.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.4718C>T (p.Thr1573Met) rs183195890 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.1881C>T (p.Tyr627=) rs145689664 0.00009
NM_000069.3(CACNA1S):c.1935C>T (p.Phe645=) rs550584336 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.2361-10G>A rs533238983 0.00008
NM_000069.3(CACNA1S):c.2628G>T (p.Val876=) rs200898535 0.00008
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.3429G>A (p.Ser1143=) rs373033092 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.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.2001G>A (p.Ala667=) rs61734612 0.00006
NM_000069.3(CACNA1S):c.2376T>C (p.Cys792=) rs528604695 0.00006
NM_000069.3(CACNA1S):c.2491-20C>T rs200340608 0.00006
NM_000069.3(CACNA1S):c.3026C>T (p.Thr1009Met) rs200224590 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.3606C>T (p.Ile1202=) rs189797100 0.00006
NM_000069.3(CACNA1S):c.3796-13G>A rs374572342 0.00006
NM_000069.3(CACNA1S):c.3953+16C>T rs201874906 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.1828G>T (p.Val610Leu) rs756131999 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.336C>G (p.Phe112Leu) rs374324813 0.00005
NM_000069.3(CACNA1S):c.4572C>T (p.Tyr1524=) rs765581827 0.00005
NM_000069.3(CACNA1S):c.852C>T (p.Thr284=) rs372633174 0.00005
NM_000069.3(CACNA1S):c.1151G>A (p.Gly384Glu) rs201737381 0.00004
NM_000069.3(CACNA1S):c.2148C>T (p.Thr716=) rs747075757 0.00004
NM_000069.3(CACNA1S):c.2667C>T (p.Ala889=) rs188071541 0.00004
NM_000069.3(CACNA1S):c.2822T>C (p.Met941Thr) rs575247457 0.00004
NM_000069.3(CACNA1S):c.2839G>A (p.Val947Ile) rs76460090 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.3796-19G>A rs369787862 0.00004
NM_000069.3(CACNA1S):c.4543+4G>A rs776190353 0.00004
NM_000069.3(CACNA1S):c.5370+7C>T rs571061537 0.00004
NM_000069.3(CACNA1S):c.784C>T (p.Arg262Trp) rs186538122 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.1290G>A (p.Lys430=) rs1241905770 0.00003
NM_000069.3(CACNA1S):c.1383C>G (p.Thr461=) rs144920422 0.00003
NM_000069.3(CACNA1S):c.1393+11A>T rs753604199 0.00003
NM_000069.3(CACNA1S):c.1552G>A (p.Ala518Thr) rs776209588 0.00003
NM_000069.3(CACNA1S):c.1845C>T (p.Asp615=) rs200091030 0.00003
NM_000069.3(CACNA1S):c.2157G>A (p.Lys719=) rs889659456 0.00003
NM_000069.3(CACNA1S):c.225G>A (p.Pro75=) rs143816534 0.00003
NM_000069.3(CACNA1S):c.2919C>T (p.Tyr973=) rs751043315 0.00003
NM_000069.3(CACNA1S):c.3129C>A (p.Ile1043=) rs774801845 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.3983T>G (p.Ile1328Ser) rs142144624 0.00003
NM_000069.3(CACNA1S):c.4032T>C (p.Tyr1344=) rs138167275 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.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.865A>G (p.Ile289Val) rs139920212 0.00003
NM_000069.3(CACNA1S):c.915C>T (p.Ile305=) rs376517944 0.00003
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.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.1996G>A (p.Glu666Lys) rs377082783 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.2539A>G (p.Ile847Val) rs764821044 0.00002
NM_000069.3(CACNA1S):c.259-14G>A rs762197754 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+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.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.3610-18C>T rs747616430 0.00002
NM_000069.3(CACNA1S):c.3745C>T (p.Arg1249Trp) rs762394267 0.00002
NM_000069.3(CACNA1S):c.4242-5C>T rs749316339 0.00002
NM_000069.3(CACNA1S):c.4441+3G>A rs886045795 0.00002
NM_000069.3(CACNA1S):c.4796G>A (p.Arg1599Gln) rs946904077 0.00002
NM_000069.3(CACNA1S):c.5135-4A>G rs1388042700 0.00002
NM_000069.3(CACNA1S):c.5237T>C (p.Val1746Ala) rs1187716461 0.00002
NM_000069.3(CACNA1S):c.702G>T (p.Val234=) rs752724350 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.772G>A (p.Gly258Ser) rs886045801 0.00002
NM_000069.3(CACNA1S):c.862T>G (p.Cys288Gly) rs201585867 0.00002
NM_000069.3(CACNA1S):c.1045A>G (p.Thr349Ala) rs752737494 0.00001
NM_000069.3(CACNA1S):c.1370C>T (p.Pro457Leu) rs1450678337 0.00001
NM_000069.3(CACNA1S):c.1507G>A (p.Val503Met) rs140246559 0.00001
NM_000069.3(CACNA1S):c.1611G>A (p.Lys537=) rs765888271 0.00001
NM_000069.3(CACNA1S):c.1632G>A (p.Ser544=) rs774899299 0.00001
NM_000069.3(CACNA1S):c.1723C>T (p.Leu575Phe) rs772213240 0.00001
NM_000069.3(CACNA1S):c.1827+6C>T rs202244301 0.00001
NM_000069.3(CACNA1S):c.1882G>A (p.Gly628Ser) rs768445692 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.2164A>G (p.Ile722Val) rs774585202 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.2361-3C>T rs774194599 0.00001
NM_000069.3(CACNA1S):c.2365C>T (p.Arg789Cys) rs148895719 0.00001
NM_000069.3(CACNA1S):c.2366G>A (p.Arg789His) rs1157720606 0.00001
NM_000069.3(CACNA1S):c.2658-10C>T rs760659248 0.00001
NM_000069.3(CACNA1S):c.272A>T (p.Tyr91Phe) rs1013152799 0.00001
NM_000069.3(CACNA1S):c.2766C>T (p.Phe922=) rs376393159 0.00001
NM_000069.3(CACNA1S):c.2836G>A (p.Gly946Ser) rs569324688 0.00001
NM_000069.3(CACNA1S):c.2854-6C>T rs1033462438 0.00001
NM_000069.3(CACNA1S):c.2907-16G>A rs756591873 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.2994C>A (p.Asp998Glu) rs886045798 0.00001
NM_000069.3(CACNA1S):c.3137T>A (p.Ile1046Asn) rs749706205 0.00001
NM_000069.3(CACNA1S):c.331T>C (p.Leu111=) rs1453821550 0.00001
NM_000069.3(CACNA1S):c.340C>A (p.Gln114Lys) rs776320792 0.00001
NM_000069.3(CACNA1S):c.3437T>A (p.Met1146Lys) rs763707356 0.00001
NM_000069.3(CACNA1S):c.356G>C (p.Arg119Pro) rs749588662 0.00001
NM_000069.3(CACNA1S):c.3609+6T>C rs1369529387 0.00001
NM_000069.3(CACNA1S):c.3636G>A (p.Leu1212=) rs774191804 0.00001
NM_000069.3(CACNA1S):c.3663C>T (p.Asn1221=) rs773738696 0.00001
NM_000069.3(CACNA1S):c.3667-4G>A rs762497596 0.00001
NM_000069.3(CACNA1S):c.3722T>C (p.Met1241Thr) rs756259956 0.00001
NM_000069.3(CACNA1S):c.3754G>A (p.Gly1252Arg) rs768780512 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.4025C>T (p.Ser1342Leu) rs563795648 0.00001
NM_000069.3(CACNA1S):c.4061C>T (p.Thr1354Ile) rs200487546 0.00001
NM_000069.3(CACNA1S):c.4145A>G (p.Asp1382Gly) rs1007920084 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.4374C>T (p.Asp1458=) rs757017761 0.00001
NM_000069.3(CACNA1S):c.445A>G (p.Thr149Ala) rs74642988 0.00001
NM_000069.3(CACNA1S):c.4490T>C (p.Ile1497Thr) rs752620158 0.00001
NM_000069.3(CACNA1S):c.4650G>T (p.Lys1550Asn) rs1413666626 0.00001
NM_000069.3(CACNA1S):c.4717A>T (p.Thr1573Ser) rs147007610 0.00001
NM_000069.3(CACNA1S):c.4984A>T (p.Asn1662Tyr) rs200772623 0.00001
NM_000069.3(CACNA1S):c.5048+8C>T rs759622507 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.5248A>G (p.Met1750Val) rs771065920 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.550G>A (p.Val184Met) rs1662243070 0.00001
NM_000069.3(CACNA1S):c.656A>G (p.Lys219Arg) rs771569004 0.00001
NM_000069.3(CACNA1S):c.736G>A (p.Ala246Thr) rs779799849 0.00001
NM_000069.3(CACNA1S):c.806A>G (p.Asn269Ser) rs1028599438 0.00001
NM_000069.3(CACNA1S):c.870C>T (p.Thr290=) rs780305979 0.00001
NM_000069.3(CACNA1S):c.1047C>T (p.Thr349=) rs542505383
NM_000069.3(CACNA1S):c.1092G>C (p.Arg364=) rs763965450
NM_000069.3(CACNA1S):c.1123G>T (p.Val375Phe) rs1174671318
NM_000069.3(CACNA1S):c.1277A>G (p.His426Arg) rs749572656
NM_000069.3(CACNA1S):c.1430C>T (p.Thr477Ile) rs1235626524
NM_000069.3(CACNA1S):c.143T>C (p.Val48Ala) rs977298165
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.14C>T (p.Ser5Leu) rs772738139
NM_000069.3(CACNA1S):c.152+17G>A rs113558244
NM_000069.3(CACNA1S):c.152+17G>C rs113558244
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.1563C>A (p.Pro521=) rs775975526
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.1660A>G (p.Asn554Asp) rs1661653168
NM_000069.3(CACNA1S):c.1744G>T (p.Gly582Trp)
NM_000069.3(CACNA1S):c.1813A>G (p.Ile605Val) rs550246898
NM_000069.3(CACNA1S):c.1884C>G (p.Gly628=) rs200743095
NM_000069.3(CACNA1S):c.1948+10C>T rs201173419
NM_000069.3(CACNA1S):c.1981G>A (p.Val661Met) rs764736462
NM_000069.3(CACNA1S):c.2047C>T (p.Arg683Cys) rs35708442
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.2505T>C (p.Phe835=) rs1057524226
NM_000069.3(CACNA1S):c.2613G>T (p.Leu871=) rs770064983
NM_000069.3(CACNA1S):c.2647A>C (p.Met883Leu) rs553593355
NM_000069.3(CACNA1S):c.2746-16G>A rs531717137
NM_000069.3(CACNA1S):c.2854-33CCTC[6] rs747117832
NM_000069.3(CACNA1S):c.2979C>A (p.Ser993Arg) rs146497999
NM_000069.3(CACNA1S):c.2979C>T (p.Ser993=) rs146497999
NM_000069.3(CACNA1S):c.3256C>G (p.Arg1086Gly) rs80338782
NM_000069.3(CACNA1S):c.3261A>G (p.Gln1087=) rs34515088
NM_000069.3(CACNA1S):c.3287G>T (p.Arg1096Leu) rs142102094
NM_000069.3(CACNA1S):c.3407G>A (p.Gly1136Asp) rs375919164
NM_000069.3(CACNA1S):c.3414+67A>G rs28986463
NM_000069.3(CACNA1S):c.3607G>A (p.Asp1203Asn)
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.3760C>G (p.Arg1254Gly) rs200034567
NM_000069.3(CACNA1S):c.3802C>T (p.Pro1268Ser) rs921262693
NM_000069.3(CACNA1S):c.3861+14G>T rs200654730
NM_000069.3(CACNA1S):c.3873G>T (p.Lys1291Asn) rs1660695433
NM_000069.3(CACNA1S):c.394C>A (p.Leu132Met) rs377030324
NM_000069.3(CACNA1S):c.3953+14G>A rs201077181
NM_000069.3(CACNA1S):c.3953+5G>A rs752722907
NM_000069.3(CACNA1S):c.3998G>A (p.Ser1333Asn) rs1030338556
NM_000069.3(CACNA1S):c.4113+7_4113+8inv
NM_000069.3(CACNA1S):c.4242G>A (p.Lys1414=) rs769933784
NM_000069.3(CACNA1S):c.429C>T (p.Asn143=) rs553580116
NM_000069.3(CACNA1S):c.4339C>T (p.Arg1447Trp)
NM_000069.3(CACNA1S):c.4350C>A (p.Gly1450=) rs761794209
NM_000069.3(CACNA1S):c.4419G>A (p.Thr1473=) rs540448406
NM_000069.3(CACNA1S):c.4425C>T (p.Leu1475=) rs1553248697
NM_000069.3(CACNA1S):c.4569C>G (p.Phe1523Leu) rs995172326
NM_000069.3(CACNA1S):c.4616G>T (p.Arg1539Leu) rs774256022
NM_000069.3(CACNA1S):c.4669-6C>T
NM_000069.3(CACNA1S):c.4915G>A (p.Glu1639Lys) rs758332515
NM_000069.3(CACNA1S):c.4972_4973delinsTA (p.Arg1658Tyr) rs1553248123
NM_000069.3(CACNA1S):c.5020A>C (p.Asn1674His) rs886045794
NM_000069.3(CACNA1S):c.5077G>A (p.Glu1693Lys)
NM_000069.3(CACNA1S):c.5101G>A (p.Gly1701Arg) rs1660204682
NM_000069.3(CACNA1S):c.5125A>G (p.Arg1709Gly) rs1660201407
NM_000069.3(CACNA1S):c.5267G>A (p.Ser1756Asn) rs777977731
NM_000069.3(CACNA1S):c.5299C>T (p.Pro1767Ser) rs200434921
NM_000069.3(CACNA1S):c.5303A>G (p.His1768Arg) rs1255660415
NM_000069.3(CACNA1S):c.5394C>A (p.Gly1798=) rs1558047794
NM_000069.3(CACNA1S):c.541+9C>T rs375541532
NM_000069.3(CACNA1S):c.542-9C>T rs767627454
NM_000069.3(CACNA1S):c.5462A>G (p.Glu1821Gly) rs1057524423
NM_000069.3(CACNA1S):c.5490_5497del (p.Leu1832fs) rs554596425
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.728C>T (p.Ser243Leu)
NM_000069.3(CACNA1S):c.773G>A (p.Gly258Asp) rs35534614
NM_000069.3(CACNA1S):c.853G>A (p.Val285Met)
NM_000069.3(CACNA1S):c.982C>A (p.Leu328Met) rs1558078309

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