ClinVar Miner

List of variants reported as uncertain significance for muscular channelopathy by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2155
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HGVS dbSNP gnomAD frequency
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531 0.00075
NM_000083.3(CLCN1):c.2926C>T (p.Arg976Ter) rs142539932 0.00070
NM_000334.4(SCN4A):c.52C>A (p.Arg18Ser) rs78592515 0.00054
NM_000334.4(SCN4A):c.8G>C (p.Arg3Thr) rs764134362 0.00046
NM_000334.4(SCN4A):c.199A>G (p.Ile67Val) rs200834218 0.00041
NM_000083.3(CLCN1):c.2795C>T (p.Pro932Leu) rs80356706 0.00035
NM_000069.3(CACNA1S):c.540T>C (p.Pro180=) rs138245131 0.00032
NM_000083.3(CLCN1):c.2545G>A (p.Ala849Thr) rs201861334 0.00030
NM_000334.4(SCN4A):c.218C>T (p.Pro73Leu) rs75086141 0.00029
NM_000334.4(SCN4A):c.1926G>T (p.Trp642Cys) rs781412058 0.00028
NM_000069.3(CACNA1S):c.4114-3C>T rs182873269 0.00027
NM_000334.4(SCN4A):c.4048G>A (p.Val1350Met) rs200274258 0.00026
NM_000334.4(SCN4A):c.845G>A (p.Arg282His) rs200615763 0.00025
NM_000334.4(SCN4A):c.2704G>A (p.Gly902Ser) rs200517944 0.00021
NM_000334.4(SCN4A):c.3173G>A (p.Arg1058Gln) rs760649578 0.00021
NM_000083.3(CLCN1):c.2172+3G>A rs758964825 0.00019
NM_000334.4(SCN4A):c.211C>T (p.Pro71Ser) rs187055074 0.00018
NM_000334.4(SCN4A):c.611C>T (p.Ala204Val) rs199859508 0.00018
NM_000069.3(CACNA1S):c.3609C>T (p.Asp1203=) rs374324793 0.00017
NM_000069.3(CACNA1S):c.2490+5C>T rs369813191 0.00016
NM_000069.3(CACNA1S):c.258+6A>G rs376899610 0.00016
NM_000334.4(SCN4A):c.4519G>A (p.Val1507Ile) rs140517911 0.00016
NM_000069.3(CACNA1S):c.4340G>A (p.Arg1447Gln) rs377474103 0.00014
NM_000083.3(CLCN1):c.313C>T (p.Arg105Cys) rs201509501 0.00014
NM_000334.4(SCN4A):c.4891G>A (p.Ala1631Thr) rs201115695 0.00014
NM_000069.3(CACNA1S):c.1945A>C (p.Asn649His) rs760246258 0.00013
NM_000334.4(SCN4A):c.2185T>C (p.Cys729Arg) rs200025736 0.00013
NM_000334.4(SCN4A):c.4517A>T (p.Tyr1506Phe) rs762311521 0.00013
NM_000891.3(KCNJ2):c.1244C>T (p.Pro415Leu) rs373799322 0.00013
NM_000334.4(SCN4A):c.2824G>A (p.Asp942Asn) rs761589948 0.00012
NM_000069.3(CACNA1S):c.1669C>T (p.Arg557Cys) rs756612471 0.00011
NM_000069.3(CACNA1S):c.3905G>A (p.Arg1302Gln) rs200042281 0.00011
NM_000083.3(CLCN1):c.1357C>T (p.Arg453Trp) rs376026619 0.00011
NM_000334.4(SCN4A):c.145G>A (p.Glu49Lys) rs368011562 0.00011
NM_000334.4(SCN4A):c.2563A>G (p.Met855Val) rs372019457 0.00011
NM_000334.4(SCN4A):c.4334C>T (p.Thr1445Met) rs200481981 0.00011
NM_000334.4(SCN4A):c.5410A>G (p.Thr1804Ala) rs372635510 0.00011
NM_000891.3(KCNJ2):c.616G>A (p.Gly206Ser) rs141035459 0.00011
NM_000069.3(CACNA1S):c.2658G>A (p.Glu886=) rs140924492 0.00010
NM_000334.4(SCN4A):c.5401G>A (p.Ala1801Thr) rs201192904 0.00010
NM_000334.4(SCN4A):c.5415G>A (p.Met1805Ile) rs368984178 0.00010
NM_000069.3(CACNA1S):c.1592G>A (p.Arg531His) rs748711395 0.00009
NM_000069.3(CACNA1S):c.3904C>T (p.Arg1302Trp) rs780390034 0.00009
NM_000083.3(CLCN1):c.133A>G (p.Arg45Gly) rs371715660 0.00009
NM_000083.3(CLCN1):c.2403+4A>C rs372826693 0.00009
NM_000083.3(CLCN1):c.2681G>A (p.Arg894Gln) rs145412643 0.00009
NM_000083.3(CLCN1):c.544A>G (p.Ile182Val) rs969430772 0.00009
NM_000334.4(SCN4A):c.3136G>T (p.Gly1046Trp) rs759982229 0.00009
NM_000334.4(SCN4A):c.4282A>G (p.Ile1428Val) rs368822028 0.00009
NM_000334.4(SCN4A):c.841G>A (p.Val281Met) rs370289618 0.00009
NM_000083.3(CLCN1):c.595C>T (p.Arg199Cys) rs143506735 0.00008
NM_000083.3(CLCN1):c.637G>A (p.Val213Met) rs756755417 0.00008
NM_000083.3(CLCN1):c.652G>A (p.Ala218Thr) rs189963844 0.00008
NM_000334.4(SCN4A):c.4386C>G (p.Ile1462Met) rs763827415 0.00008
NM_000083.3(CLCN1):c.1123G>A (p.Gly375Ser) rs140536210 0.00007
NM_000334.4(SCN4A):c.1139G>A (p.Arg380Gln) rs374446143 0.00007
NM_000334.4(SCN4A):c.2468A>C (p.Gln823Pro) rs753182664 0.00007
NM_000334.4(SCN4A):c.5404G>A (p.Gly1802Arg) rs267604988 0.00007
NM_000891.3(KCNJ2):c.277G>A (p.Val93Ile) rs147750704 0.00007
NM_000891.3(KCNJ2):c.973C>T (p.Arg325Cys) rs202067116 0.00007
NM_000069.3(CACNA1S):c.1885G>A (p.Gly629Arg) rs147888089 0.00006
NM_000069.3(CACNA1S):c.3026C>T (p.Thr1009Met) rs200224590 0.00006
NM_000069.3(CACNA1S):c.3256C>T (p.Arg1086Cys) rs80338782 0.00006
NM_000069.3(CACNA1S):c.5550C>A (p.Asn1850Lys) rs141556780 0.00006
NM_000083.3(CLCN1):c.1222C>G (p.Pro408Ala) rs202019723 0.00006
NM_000083.3(CLCN1):c.2822C>T (p.Ser941Phe) rs769053787 0.00006
NM_000083.3(CLCN1):c.37C>A (p.Gln13Lys) rs143025648 0.00006
NM_000334.4(SCN4A):c.1354G>A (p.Glu452Lys) rs372631097 0.00006
NM_000334.4(SCN4A):c.2054C>T (p.Thr685Met) rs140022722 0.00006
NM_000334.4(SCN4A):c.2794G>A (p.Asp932Asn) rs199656266 0.00006
NM_000334.4(SCN4A):c.2920G>A (p.Glu974Lys) rs751751228 0.00006
NM_000334.4(SCN4A):c.3221A>T (p.Tyr1074Phe) rs753318973 0.00006
NM_000334.4(SCN4A):c.365G>A (p.Arg122His) rs374529559 0.00006
NM_000334.4(SCN4A):c.367G>A (p.Gly123Arg) rs377572814 0.00006
NM_000334.4(SCN4A):c.4609G>A (p.Gly1537Ser) rs571210585 0.00006
NM_000334.4(SCN4A):c.4864G>A (p.Glu1622Lys) rs369430918 0.00006
NM_000334.4(SCN4A):c.4916G>A (p.Arg1639His) rs368186423 0.00006
NM_000334.4(SCN4A):c.5127C>A (p.Asn1709Lys) rs1045422843 0.00006
NM_000334.4(SCN4A):c.5128C>T (p.Pro1710Ser) rs762735966 0.00006
NM_000334.4(SCN4A):c.5218C>T (p.Arg1740Trp) rs373804267 0.00006
NM_000334.4(SCN4A):c.5495A>G (p.Lys1832Arg) rs778802285 0.00006
NM_000334.4(SCN4A):c.679C>T (p.Leu227Phe) rs368999500 0.00006
NM_000334.4(SCN4A):c.787G>A (p.Val263Ile) rs775418104 0.00006
NM_000069.3(CACNA1S):c.1828G>T (p.Val610Leu) rs756131999 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.542G>C (p.Ser181Thr) rs1046958622 0.00005
NM_000083.3(CLCN1):c.2024A>C (p.Gln675Pro) rs768582911 0.00005
NM_000083.3(CLCN1):c.664G>A (p.Gly222Ser) rs747078264 0.00005
NM_000334.4(SCN4A):c.1984G>A (p.Val662Ile) rs766975288 0.00005
NM_000334.4(SCN4A):c.2662A>C (p.Lys888Gln) rs202155883 0.00005
NM_000334.4(SCN4A):c.2729A>T (p.Asp910Val) rs565408498 0.00005
NM_000334.4(SCN4A):c.3093C>G (p.Asn1031Lys) rs779124566 0.00005
NM_000334.4(SCN4A):c.364C>T (p.Arg122Cys) rs150158100 0.00005
NM_000334.4(SCN4A):c.386T>C (p.Ile129Thr) rs369652972 0.00005
NM_000334.4(SCN4A):c.4711C>T (p.Pro1571Ser) rs772552529 0.00005
NM_000891.3(KCNJ2):c.1222C>G (p.Leu408Val) rs753757610 0.00005
NM_000891.3(KCNJ2):c.208G>T (p.Ala70Ser) rs375605948 0.00005
NM_000069.3(CACNA1S):c.1151G>A (p.Gly384Glu) rs201737381 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.3286C>T (p.Arg1096Cys) rs781178565 0.00004
NM_000069.3(CACNA1S):c.3416A>C (p.His1139Pro) rs756628359 0.00004
NM_000069.3(CACNA1S):c.4543+4G>A rs776190353 0.00004
NM_000069.3(CACNA1S):c.4668+6C>T rs752849401 0.00004
NM_000069.3(CACNA1S):c.5049-6T>C rs372192645 0.00004
NM_000069.3(CACNA1S):c.598G>A (p.Ala200Thr) rs527702358 0.00004
NM_000069.3(CACNA1S):c.898T>C (p.Trp300Arg) rs370325121 0.00004
NM_000083.3(CLCN1):c.1085G>C (p.Gly362Ala) rs758597490 0.00004
NM_000083.3(CLCN1):c.1358G>A (p.Arg453Gln) rs754440141 0.00004
NM_000083.3(CLCN1):c.157C>T (p.Arg53Cys) rs767366093 0.00004
NM_000083.3(CLCN1):c.1748A>G (p.Gln583Arg) rs747895358 0.00004
NM_000083.3(CLCN1):c.1807A>T (p.Ile603Phe) rs908274887 0.00004
NM_000083.3(CLCN1):c.1831C>T (p.Arg611Cys) rs146469288 0.00004
NM_000083.3(CLCN1):c.2197C>T (p.Pro733Ser) rs780173260 0.00004
NM_000083.3(CLCN1):c.2411C>T (p.Ala804Val) rs146453561 0.00004
NM_000083.3(CLCN1):c.2578G>A (p.Val860Ile) rs767209392 0.00004
NM_000083.3(CLCN1):c.2848G>A (p.Glu950Lys) rs201506176 0.00004
NM_000083.3(CLCN1):c.452C>T (p.Ala151Val) rs145280046 0.00004
NM_000083.3(CLCN1):c.616T>C (p.Tyr206His) rs963470037 0.00004
NM_000334.4(SCN4A):c.1135G>A (p.Gly379Arg) rs201429528 0.00004
NM_000334.4(SCN4A):c.113G>A (p.Arg38Gln) rs772546656 0.00004
NM_000334.4(SCN4A):c.121C>T (p.Arg41Trp) rs558855276 0.00004
NM_000334.4(SCN4A):c.1583G>T (p.Ser528Ile) rs906634749 0.00004
NM_000334.4(SCN4A):c.1606+3G>T rs377617612 0.00004
NM_000334.4(SCN4A):c.1808C>G (p.Thr603Arg) rs767603831 0.00004
NM_000334.4(SCN4A):c.1917G>T (p.Gln639His) rs375403086 0.00004
NM_000334.4(SCN4A):c.205G>A (p.Gly69Arg) rs886053249 0.00004
NM_000334.4(SCN4A):c.2419G>A (p.Ala807Thr) rs770694096 0.00004
NM_000334.4(SCN4A):c.2452G>A (p.Glu818Lys) rs541785064 0.00004
NM_000334.4(SCN4A):c.2626G>A (p.Glu876Lys) rs886053247 0.00004
NM_000334.4(SCN4A):c.2956G>A (p.Glu986Lys) rs369128679 0.00004
NM_000334.4(SCN4A):c.3185G>A (p.Arg1062His) rs769704334 0.00004
NM_000334.4(SCN4A):c.3835A>G (p.Ile1279Val) rs367610608 0.00004
NM_000334.4(SCN4A):c.3871A>G (p.Ile1291Val) rs777298727 0.00004
NM_000334.4(SCN4A):c.4034T>C (p.Met1345Thr) rs543985308 0.00004
NM_000334.4(SCN4A):c.4288+6C>T rs148187651 0.00004
NM_000334.4(SCN4A):c.4648C>T (p.Pro1550Ser) rs957397485 0.00004
NM_000334.4(SCN4A):c.5126A>G (p.Asn1709Ser) rs766365683 0.00004
NM_000334.4(SCN4A):c.5205G>C (p.Gln1735His) rs199944673 0.00004
NM_000334.4(SCN4A):c.5233C>T (p.Arg1745Cys) rs749841448 0.00004
NM_000334.4(SCN4A):c.5264G>A (p.Arg1755His) rs373278632 0.00004
NM_000334.4(SCN4A):c.574C>T (p.Pro192Ser) rs751749964 0.00004
NM_000334.4(SCN4A):c.614A>G (p.Tyr205Cys) rs1021505320 0.00004
NM_000334.4(SCN4A):c.713C>T (p.Thr238Met) rs201661188 0.00004
NM_000334.4(SCN4A):c.857C>T (p.Pro286Leu) rs760518441 0.00004
NM_000334.4(SCN4A):c.865G>A (p.Asp289Asn) rs376680315 0.00004
NM_000891.3(KCNJ2):c.1199C>T (p.Thr400Met) rs144022753 0.00004
NM_000891.3(KCNJ2):c.119G>A (p.Arg40Gln) rs766143485 0.00004
NM_000891.3(KCNJ2):c.511A>G (p.Ile171Val) rs150326473 0.00004
NM_000069.3(CACNA1S):c.1384C>T (p.Arg462Cys) rs747376751 0.00003
NM_000069.3(CACNA1S):c.2157G>A (p.Lys719=) rs889659456 0.00003
NM_000069.3(CACNA1S):c.325G>A (p.Gly109Ser) rs764602257 0.00003
NM_000069.3(CACNA1S):c.3677A>G (p.Glu1226Gly) rs150164738 0.00003
NM_000069.3(CACNA1S):c.3983T>G (p.Ile1328Ser) rs142144624 0.00003
NM_000069.3(CACNA1S):c.5526G>A (p.Met1842Ile) rs374294701 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_000083.3(CLCN1):c.1060A>G (p.Ile354Val) rs563864511 0.00003
NM_000083.3(CLCN1):c.1099T>A (p.Tyr367Asn) rs1031445351 0.00003
NM_000083.3(CLCN1):c.1541A>G (p.Asp514Gly) rs1441046956 0.00003
NM_000083.3(CLCN1):c.2012T>G (p.Leu671Arg) rs772516304 0.00003
NM_000083.3(CLCN1):c.2047G>C (p.Glu683Gln) rs760351874 0.00003
NM_000083.3(CLCN1):c.2437C>A (p.Pro813Thr) rs139881658 0.00003
NM_000083.3(CLCN1):c.2443T>C (p.Cys815Arg) rs752494680 0.00003
NM_000083.3(CLCN1):c.2864A>T (p.Glu955Val) rs150796358 0.00003
NM_000083.3(CLCN1):c.286T>C (p.Tyr96His) rs1320351683 0.00003
NM_000083.3(CLCN1):c.635T>C (p.Phe212Ser) rs201113768 0.00003
NM_000334.4(SCN4A):c.1425C>G (p.Phe475Leu) rs371725584 0.00003
NM_000334.4(SCN4A):c.1606G>A (p.Glu536Lys) rs746256985 0.00003
NM_000334.4(SCN4A):c.2149G>A (p.Val717Met) rs770283788 0.00003
NM_000334.4(SCN4A):c.2260G>A (p.Val754Ile) rs747401713 0.00003
NM_000334.4(SCN4A):c.2564T>C (p.Met855Thr) rs1346442665 0.00003
NM_000334.4(SCN4A):c.2711C>G (p.Pro904Arg) rs867372759 0.00003
NM_000334.4(SCN4A):c.3176G>A (p.Arg1059Gln) rs749433088 0.00003
NM_000334.4(SCN4A):c.3371C>A (p.Pro1124His) rs924313348 0.00003
NM_000334.4(SCN4A):c.3721-14C>G rs761700338 0.00003
NM_000334.4(SCN4A):c.4010G>A (p.Arg1337Gln) rs779953580 0.00003
NM_000334.4(SCN4A):c.4240G>A (p.Val1414Ile) rs369929462 0.00003
NM_000334.4(SCN4A):c.4303G>C (p.Asp1435His) rs776355318 0.00003
NM_000334.4(SCN4A):c.4378C>T (p.Arg1460Trp) rs368256039 0.00003
NM_000334.4(SCN4A):c.4540G>A (p.Asp1514Asn) rs374278037 0.00003
NM_000334.4(SCN4A):c.4705G>A (p.Gly1569Ser) rs774821803 0.00003
NM_000334.4(SCN4A):c.5239A>G (p.Met1747Val) rs748599327 0.00003
NM_000334.4(SCN4A):c.5275G>A (p.Asp1759Asn) rs1015807829 0.00003
NM_000334.4(SCN4A):c.5482C>T (p.Arg1828Cys) rs758511540 0.00003
NM_000334.4(SCN4A):c.553G>A (p.Asp185Asn) rs778661227 0.00003
NM_000334.4(SCN4A):c.568C>T (p.Arg190Trp) rs763866848 0.00003
NM_000334.4(SCN4A):c.64C>T (p.Arg22Trp) rs865873054 0.00003
NM_000334.4(SCN4A):c.878C>T (p.Thr293Met) rs747481717 0.00003
NM_000334.4(SCN4A):c.964G>A (p.Asp322Asn) rs777516201 0.00003
NM_000891.3(KCNJ2):c.1205C>T (p.Thr402Met) rs759070406 0.00003
NM_000891.3(KCNJ2):c.23G>A (p.Arg8His) rs140090605 0.00003
NM_000891.3(KCNJ2):c.359A>C (p.Lys120Thr) rs375646186 0.00003
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.1996G>A (p.Glu666Lys) rs377082783 0.00002
NM_000069.3(CACNA1S):c.2273C>T (p.Pro758Leu) rs759887262 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.2853+6C>T rs376299130 0.00002
NM_000069.3(CACNA1S):c.3322C>G (p.Gln1108Glu) rs765685405 0.00002
NM_000069.3(CACNA1S):c.3745C>T (p.Arg1249Trp) rs762394267 0.00002
NM_000069.3(CACNA1S):c.4051A>G (p.Thr1351Ala) rs1251857483 0.00002
NM_000069.3(CACNA1S):c.4441+3G>A rs886045795 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.5237T>C (p.Val1746Ala) rs1187716461 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_000083.3(CLCN1):c.1342G>A (p.Val448Met) rs200371691 0.00002
NM_000083.3(CLCN1):c.1393G>A (p.Val465Ile) rs139158852 0.00002
NM_000083.3(CLCN1):c.1723C>T (p.Pro575Ser) rs766432255 0.00002
NM_000083.3(CLCN1):c.1781G>T (p.Gly594Val) rs746346988 0.00002
NM_000083.3(CLCN1):c.1892C>T (p.Thr631Ile) rs749762818 0.00002
NM_000083.3(CLCN1):c.1922A>G (p.Asp641Gly) rs760693424 0.00002
NM_000083.3(CLCN1):c.1955T>C (p.Val652Ala) rs1803209631 0.00002
NM_000083.3(CLCN1):c.2026G>C (p.Glu676Gln) rs750187204 0.00002
NM_000083.3(CLCN1):c.2087G>A (p.Gly696Glu) rs1243583996 0.00002
NM_000083.3(CLCN1):c.2108G>C (p.Gly703Ala) rs1428234081 0.00002
NM_000083.3(CLCN1):c.2287C>A (p.Gln763Lys) rs754581538 0.00002
NM_000083.3(CLCN1):c.2647C>A (p.Pro883Thr) rs764347321 0.00002
NM_000083.3(CLCN1):c.2786C>T (p.Thr929Ile) rs777708543 0.00002
NM_000083.3(CLCN1):c.392T>C (p.Val131Ala) rs769391461 0.00002
NM_000083.3(CLCN1):c.517C>T (p.Leu173Phe) rs1554434802 0.00002
NM_000083.3(CLCN1):c.898C>T (p.Arg300Trp) rs368280521 0.00002
NM_000334.4(SCN4A):c.1009G>C (p.Asp337His) rs776665275 0.00002
NM_000334.4(SCN4A):c.1064A>G (p.Asn355Ser) rs374835121 0.00002
NM_000334.4(SCN4A):c.1378G>A (p.Glu460Lys) rs540596321 0.00002
NM_000334.4(SCN4A):c.1387G>C (p.Glu463Gln) rs766046044 0.00002
NM_000334.4(SCN4A):c.164G>A (p.Arg55Gln) rs376523210 0.00002
NM_000334.4(SCN4A):c.181G>A (p.Gly61Ser) rs759771825 0.00002
NM_000334.4(SCN4A):c.2096C>T (p.Ala699Val) rs1395381249 0.00002
NM_000334.4(SCN4A):c.2146G>A (p.Val716Met) rs773527089 0.00002
NM_000334.4(SCN4A):c.2198T>C (p.Ile733Thr) rs753865616 0.00002
NM_000334.4(SCN4A):c.2207A>G (p.Asp736Gly) rs1397719163 0.00002
NM_000334.4(SCN4A):c.229G>A (p.Gly77Ser) rs369547459 0.00002
NM_000334.4(SCN4A):c.2356A>G (p.Met786Val) rs778729831 0.00002
NM_000334.4(SCN4A):c.2420C>T (p.Ala807Val) rs749013806 0.00002
NM_000334.4(SCN4A):c.2449G>A (p.Gly817Ser) rs746797094 0.00002
NM_000334.4(SCN4A):c.2479G>A (p.Gly827Arg) rs1028907866 0.00002
NM_000334.4(SCN4A):c.2483G>A (p.Arg828His) rs556099012 0.00002
NM_000334.4(SCN4A):c.2500G>A (p.Gly834Ser) rs899627353 0.00002
NM_000334.4(SCN4A):c.2650G>A (p.Glu884Lys) rs780708338 0.00002
NM_000334.4(SCN4A):c.2747A>G (p.Asn916Ser) rs767053007 0.00002
NM_000334.4(SCN4A):c.2802G>C (p.Glu934Asp) rs371920760 0.00002
NM_000334.4(SCN4A):c.2809A>C (p.Thr937Pro) rs752396330 0.00002
NM_000334.4(SCN4A):c.2885C>T (p.Ser962Leu) rs746676885 0.00002
NM_000334.4(SCN4A):c.3002G>A (p.Arg1001His) rs770588235 0.00002
NM_000334.4(SCN4A):c.3205G>A (p.Asp1069Asn) rs373150395 0.00002
NM_000334.4(SCN4A):c.3272T>C (p.Val1091Ala) rs1470875535 0.00002
NM_000334.4(SCN4A):c.3318+6T>C rs981437343 0.00002
NM_000334.4(SCN4A):c.3385C>T (p.Arg1129Trp) rs772071113 0.00002
NM_000334.4(SCN4A):c.3622G>C (p.Glu1208Gln) rs754401226 0.00002
NM_000334.4(SCN4A):c.3688G>A (p.Val1230Met) rs778820577 0.00002
NM_000334.4(SCN4A):c.4052C>T (p.Thr1351Met) rs545724550 0.00002
NM_000334.4(SCN4A):c.419C>T (p.Thr140Ile) rs967530693 0.00002
NM_000334.4(SCN4A):c.4216G>A (p.Ala1406Thr) rs774364108 0.00002
NM_000334.4(SCN4A):c.4236C>A (p.Phe1412Leu) rs747252041 0.00002
NM_000334.4(SCN4A):c.4264G>A (p.Val1422Met) rs567183255 0.00002
NM_000334.4(SCN4A):c.4547T>C (p.Met1516Thr) rs369886445 0.00002
NM_000334.4(SCN4A):c.4805A>G (p.Asn1602Ser) rs756174308 0.00002
NM_000334.4(SCN4A):c.4994A>C (p.Asp1665Ala) rs758866720 0.00002
NM_000334.4(SCN4A):c.5020A>G (p.Ile1674Val) rs752187063 0.00002
NM_000334.4(SCN4A):c.5086G>A (p.Ala1696Thr) rs769365503 0.00002
NM_000334.4(SCN4A):c.5234G>A (p.Arg1745His) rs376526108 0.00002
NM_000334.4(SCN4A):c.5375C>T (p.Pro1792Leu) rs750560473 0.00002
NM_000334.4(SCN4A):c.53G>A (p.Arg18His) rs557359808 0.00002
NM_000334.4(SCN4A):c.739G>C (p.Val247Leu) rs755321637 0.00002
NM_000334.4(SCN4A):c.757G>A (p.Val253Met) rs772899378 0.00002
NM_000334.4(SCN4A):c.766C>T (p.Leu256Phe) rs764694733 0.00002
NM_000334.4(SCN4A):c.82A>C (p.Ile28Leu) rs886053250 0.00002
NM_000334.4(SCN4A):c.863A>G (p.Asn288Ser) rs771965654 0.00002
NM_000891.3(KCNJ2):c.1165G>A (p.Asp389Asn) rs140053197 0.00002
NM_000891.3(KCNJ2):c.128G>A (p.Cys43Tyr) rs774424161 0.00002
NM_000891.3(KCNJ2):c.236T>C (p.Ile79Thr) rs786205813 0.00002
NM_000069.3(CACNA1S):c.1001G>C (p.Ser334Thr) rs1019448884 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.1132G>A (p.Val378Ile) rs577240103 0.00001
NM_000069.3(CACNA1S):c.1151-3C>T rs1661980696 0.00001
NM_000069.3(CACNA1S):c.1370C>T (p.Pro457Leu) rs1450678337 0.00001
NM_000069.3(CACNA1S):c.1502G>T (p.Cys501Phe) rs767628675 0.00001
NM_000069.3(CACNA1S):c.1526T>C (p.Leu509Pro) rs369852385 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.1723C>T (p.Leu575Phe) rs772213240 0.00001
NM_000069.3(CACNA1S):c.1787A>G (p.Asn596Ser) rs376841055 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.1A>G (p.Met1Val) rs201803122 0.00001
NM_000069.3(CACNA1S):c.2000C>T (p.Ala667Val) rs753183910 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.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.2361-3C>T rs774194599 0.00001
NM_000069.3(CACNA1S):c.2365C>T (p.Arg789Cys) rs148895719 0.00001
NM_000069.3(CACNA1S):c.2674G>A (p.Val892Met) rs146823170 0.00001
NM_000069.3(CACNA1S):c.272A>T (p.Tyr91Phe) rs1013152799 0.00001
NM_000069.3(CACNA1S):c.2763G>T (p.Met921Ile) rs965862537 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.2921T>A (p.Val974Glu) rs974247677 0.00001
NM_000069.3(CACNA1S):c.2994C>A (p.Asp998Glu) rs886045798 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.3173A>G (p.Asn1058Ser) rs777876303 0.00001
NM_000069.3(CACNA1S):c.3195T>G (p.Ile1065Met) rs767698922 0.00001
NM_000069.3(CACNA1S):c.323A>G (p.Tyr108Cys) rs768322856 0.00001
NM_000069.3(CACNA1S):c.3398T>C (p.Ile1133Thr) rs1558061864 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.3463G>A (p.Val1155Met) rs1362149806 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.3609+6T>C rs1369529387 0.00001
NM_000069.3(CACNA1S):c.3678G>C (p.Glu1226Asp) rs769524894 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.3754G>A (p.Gly1252Arg) rs768780512 0.00001
NM_000069.3(CACNA1S):c.3953+4C>T rs763936268 0.00001
NM_000069.3(CACNA1S):c.3992C>T (p.Ala1331Val) rs1207041561 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.4165C>T (p.Arg1389Trp) rs376052781 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.4348G>A (p.Gly1450Ser) rs753557812 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.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.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.4717A>T (p.Thr1573Ser) rs147007610 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.4984A>T (p.Asn1662Tyr) rs200772623 0.00001
NM_000069.3(CACNA1S):c.503G>A (p.Arg168Gln) rs777920946 0.00001
NM_000069.3(CACNA1S):c.5135-3C>T rs1311822511 0.00001
NM_000069.3(CACNA1S):c.5150C>G (p.Pro1717Arg) rs758722244 0.00001
NM_000069.3(CACNA1S):c.5315C>G (p.Thr1772Ser) rs751225635 0.00001
NM_000069.3(CACNA1S):c.5370+6C>A rs769074038 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.5557T>C (p.Ser1853Pro) rs1660060487 0.00001
NM_000069.3(CACNA1S):c.5614A>G (p.Arg1872Gly) rs143345409 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.736G>A (p.Ala246Thr) rs779799849 0.00001
NM_000069.3(CACNA1S):c.806A>G (p.Asn269Ser) rs1028599438 0.00001
NM_000069.3(CACNA1S):c.868A>G (p.Thr290Ala) rs749324671 0.00001
NM_000069.3(CACNA1S):c.896A>T (p.Tyr299Phe) rs980556708 0.00001
NM_000069.3(CACNA1S):c.947C>G (p.Thr316Ser) rs1339416724 0.00001
NM_000083.3(CLCN1):c.100G>A (p.Gly34Arg) rs200889399 0.00001
NM_000083.3(CLCN1):c.1061T>G (p.Ile354Ser) rs1682810737 0.00001
NM_000083.3(CLCN1):c.1064G>A (p.Gly355Glu) rs1282349760 0.00001
NM_000083.3(CLCN1):c.1102C>A (p.Leu368Met) rs1198219818 0.00001
NM_000083.3(CLCN1):c.1149C>A (p.Ser383Arg) rs376144544 0.00001
NM_000083.3(CLCN1):c.1168C>T (p.Arg390Cys) rs547603982 0.00001
NM_000083.3(CLCN1):c.1241T>C (p.Met414Thr) rs368276618 0.00001
NM_000083.3(CLCN1):c.1250A>G (p.Glu417Gly) rs1288398919 0.00001
NM_000083.3(CLCN1):c.1366G>A (p.Val456Ile) rs922819878 0.00001
NM_000083.3(CLCN1):c.1388T>G (p.Phe463Cys) rs1064796557 0.00001
NM_000083.3(CLCN1):c.13C>T (p.Arg5Trp) rs1322496244 0.00001
NM_000083.3(CLCN1):c.1414A>G (p.Ile472Val) rs767231116 0.00001
NM_000083.3(CLCN1):c.1448G>A (p.Gly483Asp) rs1336878695 0.00001
NM_000083.3(CLCN1):c.1459G>A (p.Val487Met) rs749370790 0.00001
NM_000083.3(CLCN1):c.166G>A (p.Val56Ile) rs202120426 0.00001
NM_000083.3(CLCN1):c.1726T>G (p.Ser576Ala) rs1161052414 0.00001
NM_000083.3(CLCN1):c.1814T>C (p.Val605Ala) rs773422802 0.00001
NM_000083.3(CLCN1):c.1832G>A (p.Arg611His) rs763850295 0.00001
NM_000083.3(CLCN1):c.1903A>G (p.Lys635Glu) rs772430525 0.00001
NM_000083.3(CLCN1):c.1976C>T (p.Ala659Val) rs1336908700 0.00001
NM_000083.3(CLCN1):c.1988G>A (p.Arg663His) rs1212604561 0.00001
NM_000083.3(CLCN1):c.2000C>T (p.Pro667Leu) rs1424224517 0.00001
NM_000083.3(CLCN1):c.2015G>C (p.Arg672Pro) rs777888721 0.00001
NM_000083.3(CLCN1):c.2056T>G (p.Tyr686Asp) rs1359747708 0.00001
NM_000083.3(CLCN1):c.209C>T (p.Ser70Leu) rs769312894 0.00001
NM_000083.3(CLCN1):c.215G>C (p.Arg72Thr) rs886062033 0.00001
NM_000083.3(CLCN1):c.2233A>G (p.Asn745Asp) rs745586869 0.00001
NM_000083.3(CLCN1):c.2239C>T (p.Pro747Ser) rs373850192 0.00001
NM_000083.3(CLCN1):c.2243T>G (p.Leu748Arg) rs768009397 0.00001
NM_000083.3(CLCN1):c.2253C>G (p.His751Gln) rs767926364 0.00001
NM_000083.3(CLCN1):c.2284+3G>A rs755127390 0.00001
NM_000083.3(CLCN1):c.2365-3T>C rs770158484 0.00001
NM_000083.3(CLCN1):c.2390T>C (p.Met797Thr) rs368445765 0.00001
NM_000083.3(CLCN1):c.2497A>G (p.Thr833Ala) rs112068131 0.00001
NM_000083.3(CLCN1):c.2533G>C (p.Gly845Arg) rs755433272 0.00001
NM_000083.3(CLCN1):c.2641C>T (p.Arg881Cys) rs1473430259 0.00001
NM_000083.3(CLCN1):c.2663G>A (p.Arg888Gln) rs771890096 0.00001
NM_000083.3(CLCN1):c.266A>G (p.Asp89Gly) rs948634525 0.00001
NM_000083.3(CLCN1):c.2724C>G (p.Asn908Lys) rs139117651 0.00001
NM_000083.3(CLCN1):c.2800C>T (p.Pro934Ser) rs1168501752 0.00001
NM_000083.3(CLCN1):c.289T>C (p.Ser97Pro) rs201591839 0.00001
NM_000083.3(CLCN1):c.2944G>A (p.Asp982Asn) rs1803424950 0.00001
NM_000083.3(CLCN1):c.299A>G (p.Gln100Arg) rs1586483209 0.00001
NM_000083.3(CLCN1):c.432G>A (p.Gln144=) rs921731349 0.00001
NM_000083.3(CLCN1):c.451G>A (p.Ala151Thr) rs140726900 0.00001
NM_000083.3(CLCN1):c.496A>T (p.Thr166Ser) rs1418010822 0.00001
NM_000083.3(CLCN1):c.523A>G (p.Ser175Gly) rs555680428 0.00001
NM_000083.3(CLCN1):c.547T>C (p.Ser183Pro) rs1554434814 0.00001
NM_000083.3(CLCN1):c.551C>T (p.Pro184Leu) rs1397098562 0.00001
NM_000083.3(CLCN1):c.554A>G (p.Gln185Arg) rs1802432204 0.00001
NM_000083.3(CLCN1):c.572T>C (p.Ile191Thr) rs756669568 0.00001
NM_000083.3(CLCN1):c.601G>A (p.Val201Ile) rs769612798 0.00001
NM_000083.3(CLCN1):c.632C>T (p.Ala211Val) rs761511512 0.00001
NM_000083.3(CLCN1):c.662C>T (p.Ala221Val) rs748415883 0.00001
NM_000083.3(CLCN1):c.719G>A (p.Ser240Asn) rs758767069 0.00001
NM_000083.3(CLCN1):c.823G>A (p.Val275Ile) rs759703560 0.00001
NM_000083.3(CLCN1):c.895G>C (p.Val299Leu) rs202179484 0.00001
NM_000083.3(CLCN1):c.91A>G (p.Thr31Ala) rs756977743 0.00001
NM_000083.3(CLCN1):c.922G>C (p.Ala308Pro) rs1330549395 0.00001
NM_000334.4(SCN4A):c.1000G>A (p.Asp334Asn) rs766055241 0.00001
NM_000334.4(SCN4A):c.1172C>A (p.Thr391Asn) rs1321029357 0.00001
NM_000334.4(SCN4A):c.1192G>A (p.Ala398Thr) rs1174261819 0.00001
NM_000334.4(SCN4A):c.1201C>T (p.Arg401Cys) rs1188070167 0.00001
NM_000334.4(SCN4A):c.1207A>G (p.Met403Val) rs566340596 0.00001
NM_000334.4(SCN4A):c.1299G>A (p.Leu433=) rs759176062 0.00001
NM_000334.4(SCN4A):c.1478G>A (p.Gly493Asp) rs760478847 0.00001
NM_000334.4(SCN4A):c.147G>C (p.Glu49Asp) rs781147290 0.00001
NM_000334.4(SCN4A):c.151G>A (p.Glu51Lys) rs751390409 0.00001
NM_000334.4(SCN4A):c.1559C>T (p.Pro520Leu) rs753391449 0.00001
NM_000334.4(SCN4A):c.155G>A (p.Arg52Gln) rs1240011068 0.00001
NM_000334.4(SCN4A):c.1594G>A (p.Asp532Asn) rs747479565 0.00001
NM_000334.4(SCN4A):c.1597G>A (p.Ala533Thr) rs776005101 0.00001
NM_000334.4(SCN4A):c.1598C>T (p.Ala533Val) rs1249706169 0.00001
NM_000334.4(SCN4A):c.1629G>T (p.Lys543Asn) rs1197528149 0.00001
NM_000334.4(SCN4A):c.1654G>A (p.Ala552Thr) rs552714913 0.00001
NM_000334.4(SCN4A):c.1698G>T (p.Lys566Asn) rs1415316385 0.00001
NM_000334.4(SCN4A):c.1753A>G (p.Thr585Ala) rs1289461335 0.00001
NM_000334.4(SCN4A):c.1813C>T (p.His605Tyr) rs370438278 0.00001
NM_000334.4(SCN4A):c.1845+4G>A rs1909240035 0.00001
NM_000334.4(SCN4A):c.1874T>C (p.Met625Thr) rs372436021 0.00001
NM_000334.4(SCN4A):c.1895T>C (p.Met632Thr) rs1307476014 0.00001
NM_000334.4(SCN4A):c.2045C>G (p.Ser682Trp) rs751368967 0.00001
NM_000334.4(SCN4A):c.2083A>G (p.Asn695Asp) rs1327920743 0.00001
NM_000334.4(SCN4A):c.2099T>A (p.Leu700Gln) rs1909105453 0.00001
NM_000334.4(SCN4A):c.2221C>T (p.Arg741Cys) rs1472308847 0.00001
NM_000334.4(SCN4A):c.2234A>G (p.His745Arg) rs762279435 0.00001
NM_000334.4(SCN4A):c.2267G>A (p.Arg756His) rs1343607212 0.00001
NM_000334.4(SCN4A):c.2290G>A (p.Glu764Lys) rs1403270355 0.00001
NM_000334.4(SCN4A):c.2320G>A (p.Gly774Ser) rs761212631 0.00001
NM_000334.4(SCN4A):c.2346C>A (p.Phe782Leu) rs745492332 0.00001
NM_000334.4(SCN4A):c.2362A>G (p.Ile788Val) rs748811517 0.00001
NM_000334.4(SCN4A):c.2587G>A (p.Gly863Arg) rs752706137 0.00001
NM_000334.4(SCN4A):c.2609C>T (p.Ala870Val) rs764806517 0.00001
NM_000334.4(SCN4A):c.2693G>A (p.Gly898Asp) rs760713282 0.00001
NM_000334.4(SCN4A):c.2713T>A (p.Ser905Thr) rs779100982 0.00001
NM_000334.4(SCN4A):c.2731C>T (p.His911Tyr) rs752200039 0.00001
NM_000334.4(SCN4A):c.2779G>A (p.Ala927Thr) rs1439097461 0.00001
NM_000334.4(SCN4A):c.2812G>A (p.Glu938Lys) rs374673348 0.00001
NM_000334.4(SCN4A):c.2961G>T (p.Gly987=) rs1447182115 0.00001
NM_000334.4(SCN4A):c.2990C>T (p.Ala997Val) rs760962949 0.00001
NM_000334.4(SCN4A):c.3019G>A (p.Val1007Met) rs781028684 0.00001
NM_000334.4(SCN4A):c.3033G>C (p.Gln1011His) rs369874235 0.00001
NM_000334.4(SCN4A):c.3038G>A (p.Arg1013His) rs578232775 0.00001
NM_000334.4(SCN4A):c.3061C>T (p.Arg1021Cys) rs774176490 0.00001
NM_000334.4(SCN4A):c.307T>G (p.Phe103Val) rs554349260 0.00001
NM_000334.4(SCN4A):c.3080T>C (p.Ile1027Thr) rs772835617 0.00001
NM_000334.4(SCN4A):c.3238A>G (p.Met1080Val) rs201152347 0.00001
NM_000334.4(SCN4A):c.3248A>G (p.Lys1083Arg) rs774069214 0.00001
NM_000334.4(SCN4A):c.3336G>T (p.Leu1112Phe) rs764409572 0.00001
NM_000334.4(SCN4A):c.3358T>C (p.Ser1120Pro) rs1391865078 0.00001
NM_000334.4(SCN4A):c.3441+4G>A rs765176007 0.00001
NM_000334.4(SCN4A):c.3443T>C (p.Val1148Ala) rs1908692504 0.00001
NM_000334.4(SCN4A):c.3604G>A (p.Glu1202Lys) rs201916531 0.00001
NM_000334.4(SCN4A):c.3639G>A (p.Met1213Ile) rs1267107348 0.00001
NM_000334.4(SCN4A):c.3749T>C (p.Met1250Thr) rs1488191937 0.00001
NM_000334.4(SCN4A):c.3760G>A (p.Val1254Met) rs763136642 0.00001
NM_000334.4(SCN4A):c.3796G>A (p.Glu1266Lys) rs1398605254 0.00001
NM_000334.4(SCN4A):c.3829A>T (p.Ile1277Phe) rs776750130 0.00001
NM_000334.4(SCN4A):c.3904A>C (p.Lys1302Gln) rs1555601285 0.00001
NM_000334.4(SCN4A):c.3936G>C (p.Met1312Ile) rs1567817375 0.00001
NM_000334.4(SCN4A):c.4009C>T (p.Arg1337Trp) rs779717594 0.00001
NM_000334.4(SCN4A):c.4066G>A (p.Asp1356Asn) rs772704244 0.00001
NM_000334.4(SCN4A):c.4080G>C (p.Met1360Ile) rs774789710 0.00001
NM_000334.4(SCN4A):c.4106C>A (p.Thr1369Asn) rs748313755 0.00001
NM_000334.4(SCN4A):c.4168A>T (p.Met1390Leu) rs754311975 0.00001
NM_000334.4(SCN4A):c.4180A>G (p.Ile1394Val) rs981021623 0.00001
NM_000334.4(SCN4A):c.4208A>G (p.Lys1403Arg) rs1480233641 0.00001
NM_000334.4(SCN4A):c.4267G>A (p.Val1423Ile) rs943905262 0.00001
NM_000334.4(SCN4A):c.4270G>A (p.Val1424Ile) rs375844960 0.00001
NM_000334.4(SCN4A):c.4324G>A (p.Val1442Met) rs774452124 0.00001
NM_000334.4(SCN4A):c.4358C>T (p.Ala1453Val) rs779470034 0.00001
NM_000334.4(SCN4A):c.4360C>T (p.Arg1454Trp) rs879253789 0.00001
NM_000334.4(SCN4A):c.4370G>A (p.Arg1457His) rs863225046 0.00001
NM_000334.4(SCN4A):c.4390G>A (p.Gly1464Arg) rs150423825 0.00001
NM_000334.4(SCN4A):c.4393G>T (p.Ala1465Ser) rs770398125 0.00001
NM_000334.4(SCN4A):c.4402A>G (p.Ile1468Val) rs748620733 0.00001
NM_000334.4(SCN4A):c.4406G>A (p.Arg1469Gln) rs962610601 0.00001
NM_000334.4(SCN4A):c.4420G>A (p.Ala1474Thr) rs778417596 0.00001
NM_000334.4(SCN4A):c.4429A>G (p.Met1477Val) rs1465376529 0.00001
NM_000334.4(SCN4A):c.4503G>A (p.Met1501Ile) rs1467904959 0.00001
NM_000334.4(SCN4A):c.4567G>A (p.Gly1523Ser) rs549771520 0.00001
NM_000334.4(SCN4A):c.458C>T (p.Pro153Leu) rs781033413 0.00001
NM_000334.4(SCN4A):c.4601C>T (p.Thr1534Met) rs939785324 0.00001
NM_000334.4(SCN4A):c.4633A>G (p.Ile1545Val) rs527928131 0.00001
NM_000334.4(SCN4A):c.4639A>C (p.Asn1547His) rs748718886 0.00001
NM_000334.4(SCN4A):c.4667A>G (p.Asn1556Ser) rs751454852 0.00001
NM_000334.4(SCN4A):c.4670T>C (p.Leu1557Pro) rs1237471647 0.00001
NM_000334.4(SCN4A):c.4679C>T (p.Pro1560Leu) rs753838641 0.00001
NM_000334.4(SCN4A):c.4699G>A (p.Asp1567Asn) rs768071512 0.00001
NM_000334.4(SCN4A):c.4706G>T (p.Gly1569Val) rs373017435 0.00001
NM_000334.4(SCN4A):c.4709A>G (p.Asn1570Ser) rs531658524 0.00001
NM_000334.4(SCN4A):c.4742A>G (p.Tyr1581Cys) rs912147252 0.00001
NM_000334.4(SCN4A):c.4783G>A (p.Ala1595Thr) rs761947899 0.00001
NM_000334.4(SCN4A):c.4804A>C (p.Asn1602His) rs1189124411 0.00001
NM_000334.4(SCN4A):c.4814C>T (p.Thr1605Ile) rs1480989482 0.00001
NM_000334.4(SCN4A):c.4882G>A (p.Asp1628Asn) rs1004398583 0.00001
NM_000334.4(SCN4A):c.4888G>A (p.Asp1630Asn) rs540950122 0.00001
NM_000334.4(SCN4A):c.4915C>G (p.Arg1639Gly) rs776231847 0.00001
NM_000334.4(SCN4A):c.5000C>T (p.Pro1667Leu) rs765721076 0.00001
NM_000334.4(SCN4A):c.5023C>T (p.His1675Tyr) rs767464961 0.00001
NM_000334.4(SCN4A):c.5033A>G (p.Asp1678Gly) rs1245539617 0.00001
NM_000334.4(SCN4A):c.5216G>A (p.Arg1739His) rs1388841552 0.00001
NM_000334.4(SCN4A):c.5237C>T (p.Ser1746Phe) rs770063781 0.00001
NM_000334.4(SCN4A):c.5278G>A (p.Gly1760Ser) rs774530569 0.00001
NM_000334.4(SCN4A):c.5306A>C (p.Glu1769Ala) rs768251194 0.00001
NM_000334.4(SCN4A):c.5347G>A (p.Glu1783Lys) rs377673196 0.00001
NM_000334.4(SCN4A):c.536G>A (p.Arg179Gln) rs777130479 0.00001
NM_000334.4(SCN4A):c.5389G>A (p.Glu1797Lys) rs1398520652 0.00001
NM_000334.4(SCN4A):c.5405G>A (p.Gly1802Glu) rs749251685 0.00001
NM_000334.4(SCN4A):c.5465C>A (p.Pro1822His) rs773666497 0.00001
NM_000334.4(SCN4A):c.5467C>A (p.Pro1823Thr) rs963907287 0.00001
NM_000334.4(SCN4A):c.5492T>A (p.Val1831Asp) rs1300925199 0.00001
NM_000334.4(SCN4A):c.5506G>A (p.Val1836Ile) rs554836244 0.00001
NM_000334.4(SCN4A):c.554A>C (p.Asp185Ala) rs1597987427 0.00001
NM_000334.4(SCN4A):c.673C>T (p.Arg225Trp) rs764718003 0.00001
NM_000334.4(SCN4A):c.674G>A (p.Arg225Gln) rs547866546 0.00001
NM_000334.4(SCN4A):c.67G>A (p.Glu23Lys) rs756692670 0.00001
NM_000334.4(SCN4A):c.703+6G>A rs748828476 0.00001
NM_000334.4(SCN4A):c.707T>C (p.Leu236Pro) rs1909519703 0.00001
NM_000334.4(SCN4A):c.718G>A (p.Val240Met) rs746216167 0.00001
NM_000334.4(SCN4A):c.752C>T (p.Ser251Leu) rs751884584 0.00001
NM_000334.4(SCN4A):c.904G>A (p.Gly302Ser) rs756852107 0.00001
NM_000334.4(SCN4A):c.91C>T (p.Arg31Trp) rs756059775 0.00001
NM_000891.3(KCNJ2):c.102G>C (p.Lys34Asn) rs1476737505 0.00001
NM_000891.3(KCNJ2):c.1115A>G (p.Asn372Ser) rs1279418065 0.00001
NM_000891.3(KCNJ2):c.1207C>A (p.Pro403Thr) rs752406680 0.00001
NM_000891.3(KCNJ2):c.1268G>A (p.Arg423Gln) rs745372216 0.00001
NM_000891.3(KCNJ2):c.14G>A (p.Arg5Gln) rs764311511 0.00001
NM_000891.3(KCNJ2):c.179A>G (p.Asn60Ser) rs1484750176 0.00001
NM_000891.3(KCNJ2):c.22C>T (p.Arg8Cys) rs529080615 0.00001
NM_000891.3(KCNJ2):c.302G>T (p.Cys101Phe) rs750630010 0.00001
NM_000891.3(KCNJ2):c.322C>G (p.Leu108Val) rs371331394 0.00001
NM_000891.3(KCNJ2):c.389C>T (p.Thr130Met) rs151168735 0.00001
NM_000891.3(KCNJ2):c.466A>G (p.Ile156Val) rs767934529 0.00001
NM_000891.3(KCNJ2):c.476T>C (p.Phe159Ser) rs1236228202 0.00001
NM_000891.3(KCNJ2):c.499G>A (p.Val167Met) rs140147979 0.00001
NM_000891.3(KCNJ2):c.532G>A (p.Ala178Thr) rs771965504 0.00001
NM_000891.3(KCNJ2):c.5_6insAAGTGTGCGAACCAACCGCTA (p.Val4_Ser10dup) rs2074383942 0.00001
NM_000891.3(KCNJ2):c.604G>A (p.Ala202Thr) rs759793133 0.00001
NM_000891.3(KCNJ2):c.694C>T (p.Leu232Phe) rs779856198 0.00001
NM_000891.3(KCNJ2):c.752A>G (p.Asn251Ser) rs1261477163 0.00001
NM_000891.3(KCNJ2):c.781A>G (p.Ile261Val) rs774461588 0.00001
NM_000891.3(KCNJ2):c.845T>G (p.Leu282Trp) rs758092571 0.00001
NM_000891.3(KCNJ2):c.859A>C (p.Ile287Leu) rs758054840 0.00001
NM_000891.3(KCNJ2):c.868G>A (p.Ala290Thr) rs895505794 0.00001
NM_000891.3(KCNJ2):c.883G>A (p.Val295Met) rs2074389817 0.00001
NM_000891.3(KCNJ2):c.953A>G (p.Asn318Ser) rs367560052 0.00001
NC_000001.10:g.(?_200522516)_(208391267_?)dup
NC_000001.10:g.(?_201008959)_(201013604_?)dup
NC_000001.10:g.(?_201013436)_(201013604_?)del
NC_000007.13:g.(?_143013306)_(143049058_?)dup
NC_000007.13:g.(?_143047445)_(143049078_?)dup
NC_000017.10:g.(?_62006586)_(62050201_?)dup
NC_000017.10:g.(?_62018111)_(62987152_?)dup
NC_000017.10:g.(?_62034502)_(62034898_?)del
NC_000017.10:g.(?_62048502)_(62050201_?)dup
NC_000017.10:g.(?_68171181)_(68172464_?)del
NC_000017.10:g.(?_68171181)_(68172464_?)dup
NM_000069.3(CACNA1S):c.100C>G (p.Leu34Val)
NM_000069.3(CACNA1S):c.1021C>G (p.Arg341Gly)
NM_000069.3(CACNA1S):c.1021C>T (p.Arg341Trp)
NM_000069.3(CACNA1S):c.103A>C (p.Thr35Pro)
NM_000069.3(CACNA1S):c.103A>G (p.Thr35Ala) rs1663150760
NM_000069.3(CACNA1S):c.1046C>G (p.Thr349Ser)
NM_000069.3(CACNA1S):c.1084G>A (p.Asp362Asn)
NM_000069.3(CACNA1S):c.1087C>T (p.Leu363Phe)
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>T (p.Gly373=)
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+3T>C rs770379814
NM_000069.3(CACNA1S):c.1150+6G>T
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.1188G>C (p.Glu396Asp)
NM_000069.3(CACNA1S):c.1218A>T (p.Lys406Asn)
NM_000069.3(CACNA1S):c.1228T>C (p.Phe410Leu)
NM_000069.3(CACNA1S):c.1235G>A (p.Arg412Gln)
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.1255C>T (p.Arg419Cys)
NM_000069.3(CACNA1S):c.1264C>T (p.Arg422Cys)
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.1285G>T (p.Val429Leu)
NM_000069.3(CACNA1S):c.1298TCT[1] (p.Phe434del)
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.133A>G (p.Ile45Val)
NM_000069.3(CACNA1S):c.1356G>T (p.Glu452Asp)
NM_000069.3(CACNA1S):c.136A>C (p.Ser46Arg)
NM_000069.3(CACNA1S):c.1403A>G (p.Asn468Ser)
NM_000069.3(CACNA1S):c.1406G>T (p.Arg469Leu)
NM_000069.3(CACNA1S):c.1413G>C (p.Leu471=)
NM_000069.3(CACNA1S):c.1430C>A (p.Thr477Asn)
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.1453G>A (p.Gly485Arg)
NM_000069.3(CACNA1S):c.1459G>A (p.Gly487Ser)
NM_000069.3(CACNA1S):c.1478T>C (p.Met493Thr) rs1411108885
NM_000069.3(CACNA1S):c.1481C>T (p.Ser494Phe)
NM_000069.3(CACNA1S):c.148T>C (p.Trp50Arg)
NM_000069.3(CACNA1S):c.1492C>A (p.Arg498Ser)
NM_000069.3(CACNA1S):c.1493G>A (p.Arg498His) 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.1508T>C (p.Val503Ala) rs763510310
NM_000069.3(CACNA1S):c.150G>C (p.Trp50Cys)
NM_000069.3(CACNA1S):c.1511T>G (p.Val504Gly)
NM_000069.3(CACNA1S):c.153-8G>A rs1663050022
NM_000069.3(CACNA1S):c.153G>A (p.Lys51=)
NM_000069.3(CACNA1S):c.1547C>G (p.Ser516Trp) 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.1564C>G (p.Leu522Val) rs4915476
NM_000069.3(CACNA1S):c.1567G>A (p.Gly523Ser)
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.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.1612A>C (p.Ile538Leu)
NM_000069.3(CACNA1S):c.1624T>A (p.Trp542Arg) rs2102142703
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.1660A>G (p.Asn554Asp) rs1661653168
NM_000069.3(CACNA1S):c.169A>G (p.Ile57Val) rs1663048287
NM_000069.3(CACNA1S):c.1721C>T (p.Ala574Val) rs1004513123
NM_000069.3(CACNA1S):c.1724T>C (p.Leu575Pro)
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.1745G>A (p.Gly582Glu)
NM_000069.3(CACNA1S):c.1758C>A (p.Asp586Glu)
NM_000069.3(CACNA1S):c.1768A>G (p.Thr590Ala) rs1661646302
NM_000069.3(CACNA1S):c.1781G>A (p.Arg594His) 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.1813A>T (p.Ile605Phe) rs550246898
NM_000069.3(CACNA1S):c.1828-16_1828-4del rs1661585121
NM_000069.3(CACNA1S):c.1828-3C>A
NM_000069.3(CACNA1S):c.1829T>C (p.Val610Ala)
NM_000069.3(CACNA1S):c.1842A>C (p.Glu614Asp)
NM_000069.3(CACNA1S):c.1846T>C (p.Trp616Arg)
NM_000069.3(CACNA1S):c.1898C>G (p.Pro633Arg)
NM_000069.3(CACNA1S):c.1905G>A (p.Met635Ile) rs754126882
NM_000069.3(CACNA1S):c.1926C>G (p.Ile642Met) rs1294275087
NM_000069.3(CACNA1S):c.1928T>C (p.Ile643Thr)
NM_000069.3(CACNA1S):c.1936G>T (p.Val646Phe)
NM_000069.3(CACNA1S):c.1939T>C (p.Cys647Arg) rs1160159381
NM_000069.3(CACNA1S):c.1951A>G (p.Ile651Val)
NM_000069.3(CACNA1S):c.197T>C (p.Val66Ala) rs1663046954
NM_000069.3(CACNA1S):c.1981G>A (p.Val661Met) rs764736462
NM_000069.3(CACNA1S):c.1984G>A (p.Asp662Asn)
NM_000069.3(CACNA1S):c.1989C>A (p.Asn663Lys)
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.2057T>C (p.Met686Thr) rs1661536110
NM_000069.3(CACNA1S):c.2063+4A>C
NM_000069.3(CACNA1S):c.2063+4A>T
NM_000069.3(CACNA1S):c.2064-5C>T
NM_000069.3(CACNA1S):c.2065G>A (p.Gly689Ser)
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.2080T>C (p.Ser694Pro)
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.2103G>A (p.Met701Ile) rs1553251197
NM_000069.3(CACNA1S):c.2105C>T (p.Ala702Val) rs1661497048
NM_000069.3(CACNA1S):c.2157+3G>A rs2102136981
NM_000069.3(CACNA1S):c.2161A>C (p.Lys721Gln)
NM_000069.3(CACNA1S):c.2167G>A (p.Asp723Asn)
NM_000069.3(CACNA1S):c.2170G>A (p.Glu724Lys)
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.2222T>C (p.Phe741Ser)
NM_000069.3(CACNA1S):c.2227+3G>A
NM_000069.3(CACNA1S):c.2264G>T (p.Ser755Ile)
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>T (p.Val771Leu)
NM_000069.3(CACNA1S):c.2321C>T (p.Pro774Leu)
NM_000069.3(CACNA1S):c.2342T>G (p.Ile781Ser) rs780079690
NM_000069.3(CACNA1S):c.2343C>G (p.Ile781Met)
NM_000069.3(CACNA1S):c.2350C>T (p.Pro784Ser)
NM_000069.3(CACNA1S):c.2360A>T (p.Lys787Met)
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.2419C>T (p.Leu807Phe) rs773958053
NM_000069.3(CACNA1S):c.2434A>G (p.Ser812Gly)
NM_000069.3(CACNA1S):c.2447T>C (p.Leu816Pro)
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.2503T>G (p.Phe835Val)
NM_000069.3(CACNA1S):c.2507A>G (p.Asp836Gly) rs1558067263
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.258+4A>G rs2102190508
NM_000069.3(CACNA1S):c.258+6A>T
NM_000069.3(CACNA1S):c.2581G>A (p.Gly861Ser)
NM_000069.3(CACNA1S):c.2582G>A (p.Gly861Asp)
NM_000069.3(CACNA1S):c.2597A>G (p.Asn866Ser)
NM_000069.3(CACNA1S):c.2612T>C (p.Leu871Pro) rs2102126857
NM_000069.3(CACNA1S):c.2629G>A (p.Ala877Thr)
NM_000069.3(CACNA1S):c.2657+9C>A
NM_000069.3(CACNA1S):c.2658G>T (p.Glu886Asp)
NM_000069.3(CACNA1S):c.2668A>G (p.Ile890Val)
NM_000069.3(CACNA1S):c.2688GAGGGTGCT[1] (p.898VLR[1])
NM_000069.3(CACNA1S):c.2689A>G (p.Arg897Gly) rs1572039465
NM_000069.3(CACNA1S):c.2698A>G (p.Arg900Gly) rs1661234855
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+5G>A
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.2821A>C (p.Met941Leu)
NM_000069.3(CACNA1S):c.2828C>T (p.Ala943Val)
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.2864T>C (p.Phe955Ser) rs1661089298
NM_000069.3(CACNA1S):c.2888T>C (p.Met963Thr) rs895181258
NM_000069.3(CACNA1S):c.2906+5A>G
NM_000069.3(CACNA1S):c.2907-3C>T
NM_000069.3(CACNA1S):c.2907-7G>C
NM_000069.3(CACNA1S):c.2915A>G (p.Tyr972Cys)
NM_000069.3(CACNA1S):c.2917T>C (p.Tyr973His)
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.2968T>G (p.Trp990Gly) rs1661068374
NM_000069.3(CACNA1S):c.296T>A (p.Ile99Asn) rs374127575
NM_000069.3(CACNA1S):c.2977A>G (p.Ser993Gly) rs2102575798
NM_000069.3(CACNA1S):c.2987A>T (p.His996Leu)
NM_000069.3(CACNA1S):c.2996A>G (p.Asn999Ser)
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.3040G>A (p.Glu1014Lys)
NM_000069.3(CACNA1S):c.3040G>C (p.Glu1014Gln) rs776712220
NM_000069.3(CACNA1S):c.3044G>A (p.Gly1015Glu)
NM_000069.3(CACNA1S):c.304G>T (p.Ala102Ser)
NM_000069.3(CACNA1S):c.3070A>G (p.Ile1024Val)
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.3107A>G (p.Asn1036Ser)
NM_000069.3(CACNA1S):c.3113G>T (p.Arg1038Leu) rs774884290
NM_000069.3(CACNA1S):c.3123G>A (p.Met1041Ile)
NM_000069.3(CACNA1S):c.3140T>A (p.Ile1047Asn)
NM_000069.3(CACNA1S):c.3140T>C (p.Ile1047Thr)
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.3167T>C (p.Met1056Thr)
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.3220A>G (p.Thr1074Ala)
NM_000069.3(CACNA1S):c.3221C>T (p.Thr1074Ile)
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+20G>A
NM_000069.3(CACNA1S):c.3255G>T (p.Gln1085His)
NM_000069.3(CACNA1S):c.3256C>G (p.Arg1086Gly) rs80338782
NM_000069.3(CACNA1S):c.3262T>C (p.Cys1088Arg) rs1661020544
NM_000069.3(CACNA1S):c.3270G>T (p.Gln1090His)
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.3287G>T (p.Arg1096Leu) rs142102094
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.3386T>C (p.Met1129Thr)
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+2dup rs1661012107
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.3442C>T (p.His1148Tyr) rs1553249775
NM_000069.3(CACNA1S):c.3462T>A (p.Asn1154Lys)
NM_000069.3(CACNA1S):c.3467C>A (p.Ala1156Asp)
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.3520G>A (p.Ala1174Thr)
NM_000069.3(CACNA1S):c.3521C>T (p.Ala1174Val)
NM_000069.3(CACNA1S):c.3533T>A (p.Phe1178Tyr)
NM_000069.3(CACNA1S):c.3542C>T (p.Pro1181Leu)
NM_000069.3(CACNA1S):c.355C>T (p.Arg119Cys)
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.358A>G (p.Ser120Gly)
NM_000069.3(CACNA1S):c.3607G>A (p.Asp1203Asn)
NM_000069.3(CACNA1S):c.3623C>T (p.Ser1208Phe)
NM_000069.3(CACNA1S):c.3631G>A (p.Gly1211Arg)
NM_000069.3(CACNA1S):c.3632G>A (p.Gly1211Glu)
NM_000069.3(CACNA1S):c.3669C>G (p.Asp1223Glu) rs2102562430
NM_000069.3(CACNA1S):c.3674A>G (p.Asp1225Gly) rs1660734688
NM_000069.3(CACNA1S):c.3676G>A (p.Glu1226Lys)
NM_000069.3(CACNA1S):c.3697G>A (p.Ala1233Thr)
NM_000069.3(CACNA1S):c.3700T>A (p.Phe1234Ile) rs1660733125
NM_000069.3(CACNA1S):c.3707G>A (p.Arg1236His)
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.3760C>G (p.Arg1254Gly) rs200034567
NM_000069.3(CACNA1S):c.3763A>G (p.Thr1255Ala) rs1660729628
NM_000069.3(CACNA1S):c.3766C>T (p.Leu1256Phe)
NM_000069.3(CACNA1S):c.3772T>C (p.Trp1258Arg) rs1660729396
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+4C>T
NM_000069.3(CACNA1S):c.3796-3del
NM_000069.3(CACNA1S):c.3796G>A (p.Ala1266Thr) rs2102561728
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.3853G>A (p.Gly1285Ser)
NM_000069.3(CACNA1S):c.3854G>A (p.Gly1285Asp)
NM_000069.3(CACNA1S):c.3857T>C (p.Met1286Thr)
NM_000069.3(CACNA1S):c.3861+5G>A
NM_000069.3(CACNA1S):c.3864G>A (p.Met1288Ile)
NM_000069.3(CACNA1S):c.3873G>T (p.Lys1291Asn) rs1660695433
NM_000069.3(CACNA1S):c.3908A>G (p.Asn1303Ser)
NM_000069.3(CACNA1S):c.3934G>A (p.Ala1312Thr) rs2102560671
NM_000069.3(CACNA1S):c.3953+5G>A rs752722907
NM_000069.3(CACNA1S):c.3953+5G>T
NM_000069.3(CACNA1S):c.3954G>A (p.Arg1318=)
NM_000069.3(CACNA1S):c.3962C>A (p.Thr1321Lys)
NM_000069.3(CACNA1S):c.3970G>A (p.Ala1324Thr) rs886045797
NM_000069.3(CACNA1S):c.398+6A>G rs1187491805
NM_000069.3(CACNA1S):c.3998G>A (p.Ser1333Asn) rs1030338556
NM_000069.3(CACNA1S):c.4039G>C (p.Gly1347Arg) rs2102558476
NM_000069.3(CACNA1S):c.403T>C (p.Phe135Leu)
NM_000069.3(CACNA1S):c.4043A>T (p.Glu1348Val)
NM_000069.3(CACNA1S):c.404T>C (p.Phe135Ser) rs1553252778
NM_000069.3(CACNA1S):c.4052C>T (p.Thr1351Ile)
NM_000069.3(CACNA1S):c.4060A>C (p.Thr1354Pro)
NM_000069.3(CACNA1S):c.4063A>G (p.Asn1355Asp)
NM_000069.3(CACNA1S):c.4078T>C (p.Tyr1360His)
NM_000069.3(CACNA1S):c.4079A>G (p.Tyr1360Cys)
NM_000069.3(CACNA1S):c.4081T>A (p.Phe1361Ile)
NM_000069.3(CACNA1S):c.4094A>G (p.Tyr1365Cys)
NM_000069.3(CACNA1S):c.4109T>A (p.Phe1370Tyr)
NM_000069.3(CACNA1S):c.4113+5G>C
NM_000069.3(CACNA1S):c.4114G>T (p.Val1372Phe) rs1660614160
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.4171T>A (p.Trp1391Arg) rs200062688
NM_000069.3(CACNA1S):c.4177A>G (p.Ile1393Val) rs2102557535
NM_000069.3(CACNA1S):c.4191T>A (p.His1397Gln)
NM_000069.3(CACNA1S):c.4219G>T (p.Ala1407Ser)
NM_000069.3(CACNA1S):c.4242G>A (p.Lys1414=) rs769933784
NM_000069.3(CACNA1S):c.4250T>C (p.Ile1417Thr) rs372383822
NM_000069.3(CACNA1S):c.4263C>A (p.Asp1421Glu)
NM_000069.3(CACNA1S):c.4280G>A (p.Arg1427Lys)
NM_000069.3(CACNA1S):c.4295C>T (p.Pro1432Leu) rs1660566248
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.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.4353G>A (p.Met1451Ile) rs773780364
NM_000069.3(CACNA1S):c.437A>G (p.Gln146Arg)
NM_000069.3(CACNA1S):c.4405G>T (p.Ala1469Ser)
NM_000069.3(CACNA1S):c.4415G>T (p.Arg1472Leu)
NM_000069.3(CACNA1S):c.4418C>T (p.Thr1473Met)
NM_000069.3(CACNA1S):c.4420G>A (p.Ala1474Thr)
NM_000069.3(CACNA1S):c.4442G>A (p.Gly1481Asp)
NM_000069.3(CACNA1S):c.4456G>A (p.Ala1486Thr)
NM_000069.3(CACNA1S):c.4460A>G (p.Asn1487Ser)
NM_000069.3(CACNA1S):c.4461C>A (p.Asn1487Lys) rs149668892
NM_000069.3(CACNA1S):c.4472G>A (p.Arg1491Lys) rs2102553652
NM_000069.3(CACNA1S):c.4484AGA[1] (p.Lys1496del)
NM_000069.3(CACNA1S):c.4517T>G (p.Leu1506Trp)
NM_000069.3(CACNA1S):c.4523A>G (p.Gln1508Arg)
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.458G>A (p.Ser153Asn)
NM_000069.3(CACNA1S):c.4618C>G (p.Gln1540Glu) rs1351956022
NM_000069.3(CACNA1S):c.461G>A (p.Ser154Asn) rs1662254411
NM_000069.3(CACNA1S):c.4621G>A (p.Glu1541Lys)
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.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.466G>A (p.Gly156Arg)
NM_000069.3(CACNA1S):c.4672G>A (p.Gly1558Arg)
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.4775C>G (p.Ala1592Gly)
NM_000069.3(CACNA1S):c.4778T>C (p.Met1593Thr) rs781500916
NM_000069.3(CACNA1S):c.4810C>A (p.Leu1604Met) rs144059385
NM_000069.3(CACNA1S):c.4832_4849dup (p.Asn1616_Ser1617insPheLeuGluArgThrAsn)
NM_000069.3(CACNA1S):c.4835T>C (p.Leu1612Pro)
NM_000069.3(CACNA1S):c.4847A>G (p.Asn1616Ser)
NM_000069.3(CACNA1S):c.4885C>G (p.Gln1629Glu)
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.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.494G>A (p.Arg165Lys) rs2102164633
NM_000069.3(CACNA1S):c.4955G>A (p.Arg1652His)
NM_000069.3(CACNA1S):c.4957A>G (p.Thr1653Ala) rs1660353768
NM_000069.3(CACNA1S):c.4962C>A (p.Asn1654Lys)
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.4973G>T (p.Arg1658Leu)
NM_000069.3(CACNA1S):c.4979A>G (p.Asn1660Ser)
NM_000069.3(CACNA1S):c.497C>T (p.Ala166Val)
NM_000069.3(CACNA1S):c.5000A>G (p.Asn1667Ser)
NM_000069.3(CACNA1S):c.5012G>A (p.Gly1671Asp)
NM_000069.3(CACNA1S):c.5016C>A (p.Asn1672Lys)
NM_000069.3(CACNA1S):c.5020_5034dup (p.Ser1678_His1679insAsnHisSerAsnSer)
NM_000069.3(CACNA1S):c.5045C>T (p.Ser1682Phe)
NM_000069.3(CACNA1S):c.5049-6T>A
NM_000069.3(CACNA1S):c.5077G>A (p.Glu1693Lys)
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.5125A>G (p.Arg1709Gly) rs1660201407
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.517C>T (p.Leu173Phe)
NM_000069.3(CACNA1S):c.5197A>G (p.Arg1733Gly)
NM_000069.3(CACNA1S):c.5209_5226+3dup rs1660129870
NM_000069.3(CACNA1S):c.5215G>T (p.Ala1739Ser)
NM_000069.3(CACNA1S):c.5216C>G (p.Ala1739Gly)
NM_000069.3(CACNA1S):c.5219C>T (p.Pro1740Leu)
NM_000069.3(CACNA1S):c.5222G>T (p.Cys1741Phe)
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.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.5290GAG[1] (p.Glu1765del)
NM_000069.3(CACNA1S):c.5293_5294delinsAG (p.Glu1765Arg)
NM_000069.3(CACNA1S):c.5300C>G (p.Pro1767Arg)
NM_000069.3(CACNA1S):c.5302C>T (p.His1768Tyr)
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.5335T>G (p.Cys1779Gly) rs370520150
NM_000069.3(CACNA1S):c.5337C>A (p.Cys1779Ter)
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.535G>T (p.Val179Leu)
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.541+3G>A rs1662249692
NM_000069.3(CACNA1S):c.5424G>A (p.Met1808Ile)
NM_000069.3(CACNA1S):c.5435A>T (p.Gln1812Leu)
NM_000069.3(CACNA1S):c.5448T>A (p.Asp1816Glu)
NM_000069.3(CACNA1S):c.5462A>G (p.Glu1821Gly) rs1057524423
NM_000069.3(CACNA1S):c.5473G>A (p.Val1825Met)
NM_000069.3(CACNA1S):c.5480T>A (p.Ile1827Asn) rs373693197
NM_000069.3(CACNA1S):c.5483T>C (p.Met1828Thr)
NM_000069.3(CACNA1S):c.5506C>T (p.Arg1836Ter)
NM_000069.3(CACNA1S):c.5531G>A (p.Ser1844Asn) rs145195149
NM_000069.3(CACNA1S):c.5534C>T (p.Ser1845Phe) rs2102535354
NM_000069.3(CACNA1S):c.5543G>A (p.Cys1848Tyr)
NM_000069.3(CACNA1S):c.5558C>T (p.Ser1853Phe)
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.565A>T (p.Ile189Phe)
NM_000069.3(CACNA1S):c.579G>T (p.Met193Ile)
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.610C>G (p.Leu204Val) rs753823016
NM_000069.3(CACNA1S):c.618G>A (p.Met206Ile)
NM_000069.3(CACNA1S):c.632C>T (p.Ala211Val) rs763260505
NM_000069.3(CACNA1S):c.663G>C (p.Lys221Asn) rs1662237951
NM_000069.3(CACNA1S):c.671A>G (p.Lys224Arg)
NM_000069.3(CACNA1S):c.67A>G (p.Ile23Val)
NM_000069.3(CACNA1S):c.685A>G (p.Ile229Val) rs1662236680
NM_000069.3(CACNA1S):c.689G>A (p.Gly230Asp)
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.756_758dup (p.Arg253_Cys254insArg)
NM_000069.3(CACNA1S):c.770A>G (p.Asn257Ser)
NM_000069.3(CACNA1S):c.787G>A (p.Gly263Ser)
NM_000069.3(CACNA1S):c.818C>T (p.Thr273Ile) rs2102160364
NM_000069.3(CACNA1S):c.82C>A (p.Pro28Thr) rs1297380219
NM_000069.3(CACNA1S):c.836G>A (p.Gly279Asp) rs868243518
NM_000069.3(CACNA1S):c.844A>G (p.Met282Val)
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.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.900+5G>A
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.982C>A (p.Leu328Met) rs1558078309
NM_000069.3(CACNA1S):c.983T>C (p.Leu328Pro)
NM_000083.3(CLCN1):c.1003A>G (p.Thr335Ala) rs2116852900
NM_000083.3(CLCN1):c.1004C>T (p.Thr335Ile)
NM_000083.3(CLCN1):c.1006A>G (p.Asn336Asp) rs2116852905
NM_000083.3(CLCN1):c.1007A>G (p.Asn336Ser)
NM_000083.3(CLCN1):c.1016T>C (p.Met339Thr)
NM_000083.3(CLCN1):c.1027T>C (p.Phe343Leu) rs1554436510
NM_000083.3(CLCN1):c.1031A>G (p.Asp344Gly)
NM_000083.3(CLCN1):c.1046C>G (p.Pro349Arg)
NM_000083.3(CLCN1):c.1064+6del rs1482886131
NM_000083.3(CLCN1):c.1065-12T>C
NM_000083.3(CLCN1):c.1079T>G (p.Leu360Arg)
NM_000083.3(CLCN1):c.107C>T (p.Pro36Leu)
NM_000083.3(CLCN1):c.1090G>A (p.Val364Ile)
NM_000083.3(CLCN1):c.1096G>C (p.Val366Leu) rs1554436573
NM_000083.3(CLCN1):c.1096G>T (p.Val366Leu) rs1554436573
NM_000083.3(CLCN1):c.1108C>T (p.Arg370Cys)
NM_000083.3(CLCN1):c.1109G>A (p.Arg370His)
NM_000083.3(CLCN1):c.1114G>A (p.Val372Ile)
NM_000083.3(CLCN1):c.1130G>A (p.Arg377Gln)
NM_000083.3(CLCN1):c.1147A>G (p.Ser383Gly)
NM_000083.3(CLCN1):c.1149C>T (p.Ser383=)
NM_000083.3(CLCN1):c.1166+5G>A rs1586497958
NM_000083.3(CLCN1):c.1167-9C>A rs770515905
NM_000083.3(CLCN1):c.1169G>A (p.Arg390His)
NM_000083.3(CLCN1):c.1169G>T (p.Arg390Leu)
NM_000083.3(CLCN1):c.1190T>A (p.Val397Asp) rs368958317
NM_000083.3(CLCN1):c.1192A>G (p.Thr398Ala)
NM_000083.3(CLCN1):c.1195T>C (p.Phe399Leu)
NM_000083.3(CLCN1):c.1208C>T (p.Ser403Leu)
NM_000083.3(CLCN1):c.1226G>A (p.Gly409Glu) rs1802752292
NM_000083.3(CLCN1):c.1227A>T (p.Gly409=)
NM_000083.3(CLCN1):c.1228A>G (p.Met410Val)
NM_000083.3(CLCN1):c.1230G>A (p.Met410Ile)
NM_000083.3(CLCN1):c.1243G>A (p.Ala415Thr) rs1023099235
NM_000083.3(CLCN1):c.1251+5G>A rs1802753836
NM_000083.3(CLCN1):c.1254G>T (p.Leu418Phe)
NM_000083.3(CLCN1):c.1276A>C (p.Thr426Pro) rs749846585
NM_000083.3(CLCN1):c.1286A>G (p.Asp429Gly) rs1001314584
NM_000083.3(CLCN1):c.128A>C (p.Gln43Pro) rs868831424
NM_000083.3(CLCN1):c.1327C>G (p.Leu443Val)
NM_000083.3(CLCN1):c.1334A>G (p.Gln445Arg)
NM_000083.3(CLCN1):c.1342G>C (p.Val448Leu)
NM_000083.3(CLCN1):c.1348A>T (p.Ile450Phe) rs2116855321
NM_000083.3(CLCN1):c.1353C>A (p.His451Gln)
NM_000083.3(CLCN1):c.1354C>T (p.Pro452Ser) rs1416813045
NM_000083.3(CLCN1):c.1396A>C (p.Met466Leu) rs776848644
NM_000083.3(CLCN1):c.1400A>G (p.Lys467Arg)
NM_000083.3(CLCN1):c.1401G>A (p.Lys467=) rs2116855428
NM_000083.3(CLCN1):c.1409T>A (p.Met470Lys)
NM_000083.3(CLCN1):c.140G>A (p.Arg47Gln)
NM_000083.3(CLCN1):c.1417G>A (p.Val473Met)
NM_000083.3(CLCN1):c.1424C>T (p.Thr475Ile)
NM_000083.3(CLCN1):c.1426A>G (p.Thr476Ala)
NM_000083.3(CLCN1):c.1433C>T (p.Pro478Leu)
NM_000083.3(CLCN1):c.1435A>T (p.Ile479Leu)
NM_000083.3(CLCN1):c.1436T>C (p.Ile479Thr) rs1803011827
NM_000083.3(CLCN1):c.1447G>A (p.Gly483Ser)
NM_000083.3(CLCN1):c.1471G>C (p.Gly491Arg)
NM_000083.3(CLCN1):c.1490T>G (p.Leu497Arg) rs1586507943
NM_000083.3(CLCN1):c.1496G>A (p.Gly499Glu) rs1803022284
NM_000083.3(CLCN1):c.149C>G (p.Ala50Gly)
NM_000083.3(CLCN1):c.14G>A (p.Arg5Gln)
NM_000083.3(CLCN1):c.1506G>T (p.Met502Ile)
NM_000083.3(CLCN1):c.1510A>G (p.Met504Val) rs1803022969
NM_000083.3(CLCN1):c.1517T>G (p.Phe506Cys) rs1271778777
NM_000083.3(CLCN1):c.151G>A (p.Gly51Ser)
NM_000083.3(CLCN1):c.1525G>A (p.Gly509Ser)
NM_000083.3(CLCN1):c.1540G>A (p.Asp514Asn) rs756490905
NM_000083.3(CLCN1):c.154C>G (p.Pro52Ala) rs1802292476
NM_000083.3(CLCN1):c.1550A>T (p.Tyr517Phe)
NM_000083.3(CLCN1):c.1575A>G (p.Ala525=) rs1332372122
NM_000083.3(CLCN1):c.1580T>C (p.Ile527Thr) rs1319653705
NM_000083.3(CLCN1):c.1583-13T>A
NM_000083.3(CLCN1):c.1588G>A (p.Ala530Thr)
NM_000083.3(CLCN1):c.158G>A (p.Arg53His)
NM_000083.3(CLCN1):c.158G>T (p.Arg53Leu)
NM_000083.3(CLCN1):c.1604C>T (p.Ala535Val) rs752814433
NM_000083.3(CLCN1):c.1621T>G (p.Ser541Ala) rs1563084569
NM_000083.3(CLCN1):c.1627_1628delinsAT (p.Ala543Ile) rs2116372748
NM_000083.3(CLCN1):c.1630G>A (p.Val544Met) rs1554438433
NM_000083.3(CLCN1):c.1652G>C (p.Gly551Ala)
NM_000083.3(CLCN1):c.166G>T (p.Val56Phe)
NM_000083.3(CLCN1):c.1691T>C (p.Ile564Thr)
NM_000083.3(CLCN1):c.1701C>A (p.Asn567Lys) rs779726850
NM_000083.3(CLCN1):c.1727C>G (p.Ser576Cys)
NM_000083.3(CLCN1):c.1727C>T (p.Ser576Phe) rs143825889
NM_000083.3(CLCN1):c.1741A>C (p.Ile581Leu) rs1803094547
NM_000083.3(CLCN1):c.1751T>A (p.Val584Asp)
NM_000083.3(CLCN1):c.1775A>G (p.Asp592Gly)
NM_000083.3(CLCN1):c.180+4A>G rs2116829759
NM_000083.3(CLCN1):c.1805C>A (p.Thr602Asn)
NM_000083.3(CLCN1):c.181A>C (p.Ile61Leu)
NM_000083.3(CLCN1):c.1825A>C (p.Met609Leu)
NM_000083.3(CLCN1):c.1827G>T (p.Met609Ile)
NM_000083.3(CLCN1):c.1868G>C (p.Gly623Ala)
NM_000083.3(CLCN1):c.1870G>A (p.Glu624Lys)
NM_000083.3(CLCN1):c.1873_1882delinsG (p.Leu625_Leu628delinsVal)
NM_000083.3(CLCN1):c.1877G>A (p.Arg626Gln)
NM_000083.3(CLCN1):c.187G>A (p.Gly63Ser)
NM_000083.3(CLCN1):c.1883T>C (p.Leu628Pro)
NM_000083.3(CLCN1):c.1897A>G (p.Thr633Ala)
NM_000083.3(CLCN1):c.1898C>T (p.Thr633Ile)
NM_000083.3(CLCN1):c.1907C>A (p.Thr636Asn) rs1803111177
NM_000083.3(CLCN1):c.1919T>G (p.Val640Gly) rs1803111906
NM_000083.3(CLCN1):c.1931A>G (p.Asp644Gly)
NM_000083.3(CLCN1):c.1936A>G (p.Met646Val)
NM_000083.3(CLCN1):c.1936A>T (p.Met646Leu) rs1156766492
NM_000083.3(CLCN1):c.1937T>C (p.Met646Thr)
NM_000083.3(CLCN1):c.193C>G (p.His65Asp)
NM_000083.3(CLCN1):c.1948G>A (p.Gly650Ser) rs1181586555
NM_000083.3(CLCN1):c.1955_1966del (p.Val652_Ser655del) rs1803209334
NM_000083.3(CLCN1):c.1961G>T (p.Arg654Leu) rs1322769496
NM_000083.3(CLCN1):c.1966G>A (p.Glu656Lys) rs1224200077
NM_000083.3(CLCN1):c.1978C>A (p.Leu660Ile) rs1803210699
NM_000083.3(CLCN1):c.1981C>T (p.Leu661=)
NM_000083.3(CLCN1):c.1983G>T (p.Leu661=)
NM_000083.3(CLCN1):c.2005C>T (p.Arg669Cys)
NM_000083.3(CLCN1):c.2029A>G (p.Met677Val)
NM_000083.3(CLCN1):c.2048A>C (p.Glu683Ala)
NM_000083.3(CLCN1):c.2050_2051delinsGG (p.Leu684Gly) rs1803216360
NM_000083.3(CLCN1):c.2059G>C (p.Asp687His)
NM_000083.3(CLCN1):c.2061C>A (p.Asp687Glu)
NM_000083.3(CLCN1):c.2083G>C (p.Glu695Gln)
NM_000083.3(CLCN1):c.2089C>A (p.Leu697Ile) rs2116384407
NM_000083.3(CLCN1):c.2099C>A (p.Ala700Glu)
NM_000083.3(CLCN1):c.2111G>A (p.Arg704Gln) rs984151770
NM_000083.3(CLCN1):c.2114C>T (p.Pro705Leu)
NM_000083.3(CLCN1):c.2124C>A (p.Phe708Leu)
NM_000083.3(CLCN1):c.2131G>C (p.Val711Leu) rs2116384678
NM_000083.3(CLCN1):c.2136TGAGGA[3] (p.713ED[4]) rs776429032
NM_000083.3(CLCN1):c.2149G>A (p.Glu717Lys)
NM_000083.3(CLCN1):c.214A>G (p.Arg72Gly) rs1219415384
NM_000083.3(CLCN1):c.2155C>G (p.Leu719Val)
NM_000083.3(CLCN1):c.2161G>A (p.Gly721Ser) rs1300665013
NM_000083.3(CLCN1):c.2172+6C>G
NM_000083.3(CLCN1):c.2173-3C>G rs1169171168
NM_000083.3(CLCN1):c.2173-5T>G
NM_000083.3(CLCN1):c.2192T>G (p.Leu731Arg)
NM_000083.3(CLCN1):c.2203A>G (p.Thr735Ala) rs539404339
NM_000083.3(CLCN1):c.2204C>T (p.Thr735Ile) rs1803237753
NM_000083.3(CLCN1):c.2221C>G (p.Pro741Ala)
NM_000083.3(CLCN1):c.224A>T (p.Asp75Val) rs1586483060
NM_000083.3(CLCN1):c.2255A>G (p.Lys752Arg) rs2116386398
NM_000083.3(CLCN1):c.2264C>T (p.Pro755Leu) rs1803241372
NM_000083.3(CLCN1):c.2279C>A (p.Pro760His)
NM_000083.3(CLCN1):c.2282C>A (p.Ala761Glu)
NM_000083.3(CLCN1):c.2284+6G>A
NM_000083.3(CLCN1):c.2300T>G (p.Ile767Ser)
NM_000083.3(CLCN1):c.2329G>C (p.Gly777Arg) rs2116387531
NM_000083.3(CLCN1):c.2330G>T (p.Gly777Val) rs1803256620
NM_000083.3(CLCN1):c.2339G>T (p.Arg780Leu) rs529481237
NM_000083.3(CLCN1):c.235C>T (p.Pro79Ser)
NM_000083.3(CLCN1):c.2376T>A (p.Asp792Glu) rs1803265479
NM_000083.3(CLCN1):c.2403+3G>A
NM_000083.3(CLCN1):c.2403+4A>G
NM_000083.3(CLCN1):c.2404-9G>A
NM_000083.3(CLCN1):c.2431A>C (p.Ser811Arg) rs2116396688
NM_000083.3(CLCN1):c.2437C>T (p.Pro813Ser)
NM_000083.3(CLCN1):c.2453C>A (p.Ser818Tyr)
NM_000083.3(CLCN1):c.245C>T (p.Thr82Ile) rs2116834657
NM_000083.3(CLCN1):c.2461A>C (p.Ile821Leu)
NM_000083.3(CLCN1):c.2462T>C (p.Ile821Thr)
NM_000083.3(CLCN1):c.2464G>A (p.Asp822Asn)
NM_000083.3(CLCN1):c.2464G>C (p.Asp822His) rs143146088
NM_000083.3(CLCN1):c.2471C>A (p.Ser824Tyr) rs1803362038
NM_000083.3(CLCN1):c.2491C>G (p.Gln831Glu)
NM_000083.3(CLCN1):c.2498C>T (p.Thr833Ile)
NM_000083.3(CLCN1):c.2503C>T (p.His835Tyr) rs2116397081
NM_000083.3(CLCN1):c.2505C>G (p.His835Gln)
NM_000083.3(CLCN1):c.2508+5G>A rs1401007697
NM_000083.3(CLCN1):c.2518C>A (p.Leu840Met)
NM_000083.3(CLCN1):c.2519T>G (p.Leu840Arg)
NM_000083.3(CLCN1):c.2531T>C (p.Leu844Pro) rs2116397538
NM_000083.3(CLCN1):c.253A>G (p.Ser85Gly) rs1193157349
NM_000083.3(CLCN1):c.2542C>G (p.Leu848Val)
NM_000083.3(CLCN1):c.2564G>A (p.Gly855Glu) rs1554439879
NM_000083.3(CLCN1):c.2595+10A>G
NM_000083.3(CLCN1):c.2595G>A (p.Glu865=) rs2116397852
NM_000083.3(CLCN1):c.2596-11C>G rs2116400965
NM_000083.3(CLCN1):c.259A>T (p.Thr87Ser)
NM_000083.3(CLCN1):c.25C>A (p.Arg9Ser) rs745344072
NM_000083.3(CLCN1):c.2609T>C (p.Ile870Thr) rs1319094688
NM_000083.3(CLCN1):c.260C>T (p.Thr87Ile)
NM_000083.3(CLCN1):c.2617C>T (p.His873Tyr) rs2116401119
NM_000083.3(CLCN1):c.2621C>G (p.Thr874Ser)
NM_000083.3(CLCN1):c.2623A>G (p.Lys875Glu)
NM_000083.3(CLCN1):c.2636A>G (p.Gln879Arg)
NM_000083.3(CLCN1):c.2653G>T (p.Ala885Ser) rs1803409136
NM_000083.3(CLCN1):c.2657G>C (p.Ser886Thr)
NM_000083.3(CLCN1):c.2662C>T (p.Arg888Trp)
NM_000083.3(CLCN1):c.2669C>T (p.Thr890Met) rs756135571
NM_000083.3(CLCN1):c.2692G>A (p.Gly898Arg)
NM_000083.3(CLCN1):c.2695G>A (p.Ala899Thr)
NM_000083.3(CLCN1):c.26G>C (p.Arg9Pro)
NM_000083.3(CLCN1):c.2704T>C (p.Ser902Pro) rs1803412320
NM_000083.3(CLCN1):c.2749A>G (p.Thr917Ala) rs1803414359
NM_000083.3(CLCN1):c.2778C>A (p.Ser926=)
NM_000083.3(CLCN1):c.277G>A (p.Glu93Lys)
NM_000083.3(CLCN1):c.2798C>A (p.Ser933Tyr) rs1448219970
NM_000083.3(CLCN1):c.2803T>C (p.Ser935Pro) rs1803417569
NM_000083.3(CLCN1):c.2804C>A (p.Ser935Tyr)
NM_000083.3(CLCN1):c.2811G>T (p.Glu937Asp)
NM_000083.3(CLCN1):c.2812C>T (p.Pro938Ser)
NM_000083.3(CLCN1):c.2815C>G (p.Pro939Ala) rs574104250
NM_000083.3(CLCN1):c.281A>T (p.Asp94Val) rs1586483178
NM_000083.3(CLCN1):c.2831C>T (p.Pro944Leu) rs1226179201
NM_000083.3(CLCN1):c.2839G>A (p.Val947Ile)
NM_000083.3(CLCN1):c.2860C>G (p.Leu954Val)
NM_000083.3(CLCN1):c.2869G>A (p.Val957Met)
NM_000083.3(CLCN1):c.2872G>T (p.Glu958Ter)
NM_000083.3(CLCN1):c.2882G>A (p.Gly961Glu) rs1803422217
NM_000083.3(CLCN1):c.2896C>G (p.Leu966Val) rs138115069
NM_000083.3(CLCN1):c.2902G>C (p.Asp968His) rs748630375
NM_000083.3(CLCN1):c.2909T>A (p.Leu970Ter)
NM_000083.3(CLCN1):c.2937C>A (p.Asp979Glu)
NM_000083.3(CLCN1):c.2938G>A (p.Glu980Lys)
NM_000083.3(CLCN1):c.2941G>A (p.Glu981Lys) rs1586524391
NM_000083.3(CLCN1):c.2945A>C (p.Asp982Ala)
NM_000083.3(CLCN1):c.2947G>A (p.Glu983Lys)
NM_000083.3(CLCN1):c.294A>C (p.Lys98Asn)
NM_000083.3(CLCN1):c.2960T>A (p.Ile987Asn)
NM_000083.3(CLCN1):c.2962C>G (p.Leu988Val)
NM_000083.3(CLCN1):c.2962del (p.Leu988fs) rs748329158
NM_000083.3(CLCN1):c.301G>A (p.Asp101Asn) rs1204927357
NM_000083.3(CLCN1):c.311A>G (p.His104Arg)
NM_000083.3(CLCN1):c.32G>C (p.Gly11Ala) rs1563071875
NM_000083.3(CLCN1):c.338A>C (p.Lys113Thr)
NM_000083.3(CLCN1):c.343G>A (p.Gly115Arg) rs1802406028
NM_000083.3(CLCN1):c.355A>G (p.Ile119Val)
NM_000083.3(CLCN1):c.364G>A (p.Val122Met)
NM_000083.3(CLCN1):c.365T>A (p.Val122Glu) rs2116836338
NM_000083.3(CLCN1):c.374G>A (p.Gly125Glu) rs1802406774
NM_000083.3(CLCN1):c.392T>G (p.Val131Gly) rs769391461
NM_000083.3(CLCN1):c.404T>C (p.Met135Thr)
NM_000083.3(CLCN1):c.407A>C (p.Asp136Ala)
NM_000083.3(CLCN1):c.409T>C (p.Tyr137His) rs748639603
NM_000083.3(CLCN1):c.414C>G (p.Val138=)
NM_000083.3(CLCN1):c.416G>A (p.Ser139Asn)
NM_000083.3(CLCN1):c.419C>A (p.Ala140Asp) rs1435631505
NM_000083.3(CLCN1):c.430C>G (p.Gln144Glu)
NM_000083.3(CLCN1):c.431A>C (p.Gln144Pro)
NM_000083.3(CLCN1):c.431A>G (p.Gln144Arg)
NM_000083.3(CLCN1):c.433+4G>C
NM_000083.3(CLCN1):c.433+4G>T
NM_000083.3(CLCN1):c.433G>T (p.Ala145Ser) rs1475533366
NM_000083.3(CLCN1):c.434-17G>C
NM_000083.3(CLCN1):c.439A>C (p.Lys147Gln)
NM_000083.3(CLCN1):c.43T>C (p.Trp15Arg)
NM_000083.3(CLCN1):c.442T>C (p.Trp148Arg) rs1409574232
NM_000083.3(CLCN1):c.468C>A (p.Ser156Arg)
NM_000083.3(CLCN1):c.487G>A (p.Val163Ile) rs763587236
NM_000083.3(CLCN1):c.497C>G (p.Thr166Ser) rs759966057
NM_000083.3(CLCN1):c.511C>T (p.Leu171Phe)
NM_000083.3(CLCN1):c.514A>T (p.Ile172Phe) rs992335710
NM_000083.3(CLCN1):c.518T>A (p.Leu173His)
NM_000083.3(CLCN1):c.527C>A (p.Ala176Asp) rs574259784
NM_000083.3(CLCN1):c.529C>G (p.Leu177Val) rs766286036
NM_000083.3(CLCN1):c.532T>C (p.Phe178Leu)
NM_000083.3(CLCN1):c.53G>T (p.Ser18Ile)
NM_000083.3(CLCN1):c.542T>C (p.Leu181Pro) rs2116837812
NM_000083.3(CLCN1):c.546C>G (p.Ile182Met) rs980845093
NM_000083.3(CLCN1):c.562G>A (p.Gly188Ser)
NM_000083.3(CLCN1):c.563-9C>A rs201404573
NM_000083.3(CLCN1):c.563G>A (p.Gly188Asp) rs1554434857
NM_000083.3(CLCN1):c.563G>T (p.Gly188Val) rs1554434857
NM_000083.3(CLCN1):c.596G>A (p.Arg199His)
NM_000083.3(CLCN1):c.596G>C (p.Arg199Pro)
NM_000083.3(CLCN1):c.604G>T (p.Val202Phe)
NM_000083.3(CLCN1):c.619C>T (p.Leu207Phe)
NM_000083.3(CLCN1):c.626T>G (p.Met209Arg) rs1802444087
NM_000083.3(CLCN1):c.629A>G (p.Lys210Arg)
NM_000083.3(CLCN1):c.635T>G (p.Phe212Cys) rs201113768
NM_000083.3(CLCN1):c.677G>A (p.Gly226Asp)
NM_000083.3(CLCN1):c.680T>A (p.Ile227Asn) rs1802446540
NM_000083.3(CLCN1):c.696+5G>A rs865899737
NM_000083.3(CLCN1):c.696G>A (p.Glu232=) rs923380712
NM_000083.3(CLCN1):c.696G>T (p.Glu232Asp) rs923380712
NM_000083.3(CLCN1):c.697G>A (p.Gly233Ser) rs139039122
NM_000083.3(CLCN1):c.698G>T (p.Gly233Val)
NM_000083.3(CLCN1):c.69G>C (p.Gln23His) rs760729130
NM_000083.3(CLCN1):c.707T>C (p.Val236Ala) rs1064794643
NM_000083.3(CLCN1):c.710A>G (p.His237Arg) rs542648820
NM_000083.3(CLCN1):c.712A>G (p.Ile238Val) rs765718767
NM_000083.3(CLCN1):c.712A>T (p.Ile238Phe)
NM_000083.3(CLCN1):c.715G>C (p.Ala239Pro) rs1454438376
NM_000083.3(CLCN1):c.749T>C (p.Met250Thr) rs1586487813
NM_000083.3(CLCN1):c.750G>A (p.Met250Ile) rs754934082
NM_000083.3(CLCN1):c.750G>T (p.Met250Ile) rs754934082
NM_000083.3(CLCN1):c.759C>G (p.Phe253Leu)
NM_000083.3(CLCN1):c.791C>T (p.Ser264Phe) rs2116842824
NM_000083.3(CLCN1):c.812G>C (p.Cys271Ser)
NM_000083.3(CLCN1):c.814_815delinsAA (p.Ala272Asn)
NM_000083.3(CLCN1):c.815C>G (p.Ala272Gly) rs1563075892
NM_000083.3(CLCN1):c.815C>T (p.Ala272Val) rs1563075892
NM_000083.3(CLCN1):c.81T>A (p.Phe27Leu)
NM_000083.3(CLCN1):c.826G>T (p.Gly276Cys) rs765181341
NM_000083.3(CLCN1):c.838G>A (p.Gly280Arg) rs80190110
NM_000083.3(CLCN1):c.844C>G (p.Pro282Ala) rs1586489432
NM_000083.3(CLCN1):c.845C>G (p.Pro282Arg)
NM_000083.3(CLCN1):c.852A>G (p.Gly284=) rs1417532624
NM_000083.3(CLCN1):c.854-3C>A
NM_000083.3(CLCN1):c.857T>C (p.Val286Ala) rs80356689
NM_000083.3(CLCN1):c.878C>T (p.Thr293Ile) rs762943928
NM_000083.3(CLCN1):c.889T>G (p.Phe297Val) rs2116852202
NM_000083.3(CLCN1):c.907T>G (p.Trp303Gly) rs1554436427
NM_000083.3(CLCN1):c.911G>A (p.Arg304Lys)
NM_000083.3(CLCN1):c.923C>T (p.Ala308Val) rs1406554534
NM_000083.3(CLCN1):c.932T>G (p.Phe311Cys) rs1586496817
NM_000083.3(CLCN1):c.944T>C (p.Val315Ala)
NM_000083.3(CLCN1):c.949C>A (p.Arg317=) rs1337473924
NM_000083.3(CLCN1):c.952G>A (p.Val318Met)
NM_000083.3(CLCN1):c.966G>C (p.Trp322Cys)
NM_000083.3(CLCN1):c.972G>C (p.Lys324Asn)
NM_000083.3(CLCN1):c.980-12T>C
NM_000083.3(CLCN1):c.980-3C>G rs1802714707
NM_000083.3(CLCN1):c.983C>T (p.Thr328Ile) rs780421370
NM_000083.3(CLCN1):c.984C>T (p.Thr328=)
NM_000083.3(CLCN1):c.984_989del (p.Ile329_Thr330del)
NM_000083.3(CLCN1):c.991_992delinsCT (p.Ala331Leu) rs2116852875
NM_000083.3(CLCN1):c.992C>G (p.Ala331Gly)
NM_000334.4(SCN4A):c.1015G>A (p.Asp339Asn) rs760680437
NM_000334.4(SCN4A):c.1018G>T (p.Ala340Ser) rs147936148
NM_000334.4(SCN4A):c.101AGG[2] (p.Glu36del)
NM_000334.4(SCN4A):c.1066G>A (p.Asp356Asn)
NM_000334.4(SCN4A):c.1070C>T (p.Ala357Val)
NM_000334.4(SCN4A):c.1088G>C (p.Ser363Thr)
NM_000334.4(SCN4A):c.1094A>G (p.Asp365Gly) rs2144807923
NM_000334.4(SCN4A):c.1100+3G>A rs1288881000
NM_000334.4(SCN4A):c.1114G>A (p.Gly372Ser)
NM_000334.4(SCN4A):c.1121A>G (p.Glu374Gly)
NM_000334.4(SCN4A):c.112C>T (p.Arg38Trp)
NM_000334.4(SCN4A):c.1130A>G (p.Lys377Arg)
NM_000334.4(SCN4A):c.1132A>G (p.Thr378Ala) rs2144807432
NM_000334.4(SCN4A):c.1207A>T (p.Met403Leu)
NM_000334.4(SCN4A):c.1213C>G (p.Gln405Glu)
NM_000334.4(SCN4A):c.1270A>G (p.Met424Val)
NM_000334.4(SCN4A):c.1271T>C (p.Met424Thr) rs1597982747
NM_000334.4(SCN4A):c.1276TTC[1] (p.Phe427del)
NM_000334.4(SCN4A):c.1282G>A (p.Val428Met) rs532921435
NM_000334.4(SCN4A):c.1282G>T (p.Val428Leu) rs532921435
NM_000334.4(SCN4A):c.1288A>T (p.Ile430Phe)
NM_000334.4(SCN4A):c.1291A>T (p.Ile431Phe) rs1555604164
NM_000334.4(SCN4A):c.1306T>C (p.Phe436Leu)
NM_000334.4(SCN4A):c.1312C>T (p.Leu438Phe)
NM_000334.4(SCN4A):c.1317C>G (p.Ile439Met) rs1597982684
NM_000334.4(SCN4A):c.131A>G (p.Gln44Arg) rs2143027631
NM_000334.4(SCN4A):c.1328T>C (p.Leu443Pro) rs1555604153
NM_000334.4(SCN4A):c.1342A>G (p.Met448Val)
NM_000334.4(SCN4A):c.1343T>A (p.Met448Lys) rs768617159
NM_000334.4(SCN4A):c.1344G>A (p.Met448Ile)
NM_000334.4(SCN4A):c.1345G>A (p.Ala449Thr)
NM_000334.4(SCN4A):c.1356G>C (p.Glu452Asp) rs749394640
NM_000334.4(SCN4A):c.1364A>C (p.Glu455Ala)
NM_000334.4(SCN4A):c.1370C>A (p.Thr457Asn) rs1567826131
NM_000334.4(SCN4A):c.1376C>A (p.Ala459Asp)
NM_000334.4(SCN4A):c.137A>G (p.Glu46Gly) rs1909654912
NM_000334.4(SCN4A):c.1393GAG[2] (p.Glu467del)
NM_000334.4(SCN4A):c.1406A>G (p.Gln469Arg)
NM_000334.4(SCN4A):c.1414C>A (p.Leu472Ile)
NM_000334.4(SCN4A):c.1414C>T (p.Leu472Phe)
NM_000334.4(SCN4A):c.1426A>G (p.Lys476Glu)
NM_000334.4(SCN4A):c.1441_1442delinsTT (p.Glu481Leu) rs1555604122
NM_000334.4(SCN4A):c.1514A>G (p.Asp505Gly)
NM_000334.4(SCN4A):c.1517G>C (p.Cys506Ser)
NM_000334.4(SCN4A):c.1523G>C (p.Gly508Ala)
NM_000334.4(SCN4A):c.1538C>T (p.Ser513Leu) rs1227159244
NM_000334.4(SCN4A):c.1543G>A (p.Gly515Arg) rs1003243368
NM_000334.4(SCN4A):c.1543G>T (p.Gly515Trp)
NM_000334.4(SCN4A):c.1553G>A (p.Gly518Glu) rs778649637
NM_000334.4(SCN4A):c.1556C>T (p.Ala519Val) rs756661894
NM_000334.4(SCN4A):c.1558C>T (p.Pro520Ser) rs1909342706
NM_000334.4(SCN4A):c.1559C>G (p.Pro520Arg) rs753391449
NM_000334.4(SCN4A):c.1569_1570inv (p.Ser524Gly)
NM_000334.4(SCN4A):c.1570_1584del (p.Ser524_Ser528del)
NM_000334.4(SCN4A):c.1585G>A (p.Gly529Ser) rs143457794
NM_000334.4(SCN4A):c.1588A>G (p.Ile530Val)
NM_000334.4(SCN4A):c.1595A>G (p.Asp532Gly) rs1909340315
NM_000334.4(SCN4A):c.1609C>A (p.Leu537Met)
NM_000334.4(SCN4A):c.1612G>C (p.Glu538Gln) rs1450925196
NM_000334.4(SCN4A):c.1657C>G (p.His553Asp)
NM_000334.4(SCN4A):c.1659C>G (p.His553Gln)
NM_000334.4(SCN4A):c.1661A>C (p.Lys554Thr)
NM_000334.4(SCN4A):c.1688C>A (p.Pro563Gln)
NM_000334.4(SCN4A):c.1688C>T (p.Pro563Leu)
NM_000334.4(SCN4A):c.1693C>G (p.Leu565Val) rs1597980227
NM_000334.4(SCN4A):c.1699T>C (p.Phe567Leu) rs1909247142
NM_000334.4(SCN4A):c.1701C>G (p.Phe567Leu) rs1909246959
NM_000334.4(SCN4A):c.1709T>A (p.Ile570Asn)
NM_000334.4(SCN4A):c.1711A>G (p.Ile571Val) rs1703227330
NM_000334.4(SCN4A):c.171C>A (p.Asp57Glu)
NM_000334.4(SCN4A):c.1721T>C (p.Ile574Thr)
NM_000334.4(SCN4A):c.1723G>A (p.Val575Ile) rs1162227213
NM_000334.4(SCN4A):c.1726A>C (p.Met576Leu) rs949909845
NM_000334.4(SCN4A):c.1728G>A (p.Met576Ile)
NM_000334.4(SCN4A):c.1733C>T (p.Pro578Leu) rs1370498653
NM_000334.4(SCN4A):c.1757T>C (p.Ile586Thr)
NM_000334.4(SCN4A):c.1757T>G (p.Ile586Ser)
NM_000334.4(SCN4A):c.1758C>G (p.Ile586Met)
NM_000334.4(SCN4A):c.1759T>G (p.Cys587Gly)
NM_000334.4(SCN4A):c.1762A>G (p.Ile588Val) rs2144798704
NM_000334.4(SCN4A):c.1775C>T (p.Thr592Ile) rs2144798676
NM_000334.4(SCN4A):c.1781T>C (p.Phe594Ser) rs2144798663
NM_000334.4(SCN4A):c.1790T>C (p.Met597Thr) rs2144798645
NM_000334.4(SCN4A):c.1791G>A (p.Met597Ile) rs1909243373
NM_000334.4(SCN4A):c.17T>C (p.Leu6Pro)
NM_000334.4(SCN4A):c.1811A>T (p.Glu604Val) rs1909242012
NM_000334.4(SCN4A):c.1814A>C (p.His605Pro)
NM_000334.4(SCN4A):c.1814A>G (p.His605Arg) rs2144798572
NM_000334.4(SCN4A):c.1824C>T (p.Asn608=)
NM_000334.4(SCN4A):c.1825G>T (p.Val609Leu)
NM_000334.4(SCN4A):c.1832C>T (p.Thr611Ile) rs1597980105
NM_000334.4(SCN4A):c.1835T>C (p.Val612Ala)
NM_000334.4(SCN4A):c.1836G>A (p.Val612=)
NM_000334.4(SCN4A):c.1843C>A (p.Leu615Met) rs763346049
NM_000334.4(SCN4A):c.1843C>G (p.Leu615Val)
NM_000334.4(SCN4A):c.1856G>A (p.Gly619Asp)
NM_000334.4(SCN4A):c.1862T>A (p.Phe621Tyr)
NM_000334.4(SCN4A):c.1868C>T (p.Ala623Val)
NM_000334.4(SCN4A):c.1873A>C (p.Met625Leu) rs2144795716
NM_000334.4(SCN4A):c.1876G>T (p.Val626Phe) rs774848873
NM_000334.4(SCN4A):c.1894A>G (p.Met632Val) rs2144795683
NM_000334.4(SCN4A):c.1897G>A (p.Asp633Asn)
NM_000334.4(SCN4A):c.1900C>G (p.Pro634Ala)
NM_000334.4(SCN4A):c.1903T>G (p.Tyr635Asp)
NM_000334.4(SCN4A):c.1906G>A (p.Glu636Lys)
NM_000334.4(SCN4A):c.190C>G (p.Leu64Val) rs1480788895
NM_000334.4(SCN4A):c.1922G>A (p.Gly641Asp) rs778197344
NM_000334.4(SCN4A):c.1943T>C (p.Ile648Thr)
NM_000334.4(SCN4A):c.1945A>G (p.Ile649Val) rs1909172837
NM_000334.4(SCN4A):c.1974C>T (p.Gly658=) rs1597978666
NM_000334.4(SCN4A):c.1981A>G (p.Asn661Asp) rs1597978662
NM_000334.4(SCN4A):c.1983C>A (p.Asn661Lys)
NM_000334.4(SCN4A):c.1999G>A (p.Val667Met) rs1487941051
NM_000334.4(SCN4A):c.2008_2009delinsAG (p.Ser670=)
NM_000334.4(SCN4A):c.2019+5A>G rs1555603359
NM_000334.4(SCN4A):c.2026G>A (p.Val676Ile)
NM_000334.4(SCN4A):c.2053A>G (p.Thr685Ala) rs1909108173
NM_000334.4(SCN4A):c.2092G>T (p.Gly698Trp) rs1909106013
NM_000334.4(SCN4A):c.2101G>C (p.Gly701Arg) rs1909105377
NM_000334.4(SCN4A):c.2110A>T (p.Thr704Ser) rs1909105230
NM_000334.4(SCN4A):c.211C>A (p.Pro71Thr)
NM_000334.4(SCN4A):c.2122G>C (p.Ala708Pro) rs1909104833
NM_000334.4(SCN4A):c.2135T>A (p.Phe712Tyr)
NM_000334.4(SCN4A):c.2137A>G (p.Ile713Val)
NM_000334.4(SCN4A):c.2155A>G (p.Met719Val)
NM_000334.4(SCN4A):c.215C>T (p.Pro72Leu) rs1303471186
NM_000334.4(SCN4A):c.2170A>G (p.Lys724Glu)
NM_000334.4(SCN4A):c.2174G>A (p.Ser725Asn)
NM_000334.4(SCN4A):c.2180A>G (p.Lys727Arg)
NM_000334.4(SCN4A):c.2182G>C (p.Glu728Gln)
NM_000334.4(SCN4A):c.2184G>C (p.Glu728Asp) rs779766143
NM_000334.4(SCN4A):c.2186G>T (p.Cys729Phe)
NM_000334.4(SCN4A):c.2209T>C (p.Cys737Arg)
NM_000334.4(SCN4A):c.2212A>T (p.Asn738Tyr)
NM_000334.4(SCN4A):c.2219C>T (p.Pro740Leu)
NM_000334.4(SCN4A):c.2230A>G (p.Met744Val)
NM_000334.4(SCN4A):c.223G>T (p.Val75Phe) rs1909649961
NM_000334.4(SCN4A):c.2241C>G (p.Phe747Leu)
NM_000334.4(SCN4A):c.2278G>A (p.Gly760Arg) rs991008969
NM_000334.4(SCN4A):c.2297T>C (p.Met766Thr)
NM_000334.4(SCN4A):c.2335C>G (p.Leu779Val)
NM_000334.4(SCN4A):c.2359G>A (p.Val787Ile) rs532827016
NM_000334.4(SCN4A):c.2359G>T (p.Val787Phe) rs532827016
NM_000334.4(SCN4A):c.235C>A (p.Pro79Thr) rs376505442
NM_000334.4(SCN4A):c.2365G>A (p.Gly789Ser) rs1172083418
NM_000334.4(SCN4A):c.2375T>C (p.Val792Ala)
NM_000334.4(SCN4A):c.2375T>G (p.Val792Gly) rs1357236962
NM_000334.4(SCN4A):c.2377G>C (p.Val793Leu)
NM_000334.4(SCN4A):c.2377G>T (p.Val793Phe)
NM_000334.4(SCN4A):c.2384A>C (p.Asn795Thr)
NM_000334.4(SCN4A):c.2391C>G (p.Phe797Leu) rs1253601722
NM_000334.4(SCN4A):c.2398CTG[2] (p.Leu802del)
NM_000334.4(SCN4A):c.2426G>T (p.Ser809Ile) rs1463760993
NM_000334.4(SCN4A):c.2438C>G (p.Ser813Trp) rs748067563
NM_000334.4(SCN4A):c.2454G>C (p.Glu818Asp) rs1908924564
NM_000334.4(SCN4A):c.2471T>C (p.Ile824Thr)
NM_000334.4(SCN4A):c.2473G>A (p.Ala825Thr)
NM_000334.4(SCN4A):c.2479G>T (p.Gly827Trp) rs1028907866
NM_000334.4(SCN4A):c.2482C>A (p.Arg828Ser)
NM_000334.4(SCN4A):c.2482C>T (p.Arg828Cys)
NM_000334.4(SCN4A):c.2486T>C (p.Ile829Thr)
NM_000334.4(SCN4A):c.2513C>A (p.Ala838Asp)
NM_000334.4(SCN4A):c.2522T>C (p.Leu841Pro) rs1908921340
NM_000334.4(SCN4A):c.2552C>T (p.Pro851Leu) rs1908920258
NM_000334.4(SCN4A):c.2562C>G (p.Ile854Met) rs1288151722
NM_000334.4(SCN4A):c.2567_2568delinsCT (p.Leu856Pro)
NM_000334.4(SCN4A):c.256TAC[1] (p.Tyr87del)
NM_000334.4(SCN4A):c.2572C>A (p.Leu858Ile)
NM_000334.4(SCN4A):c.2575G>A (p.Gly859Arg)
NM_000334.4(SCN4A):c.2575G>C (p.Gly859Arg) rs749473147
NM_000334.4(SCN4A):c.2578G>A (p.Glu860Lys) rs1346024466
NM_000334.4(SCN4A):c.257A>G (p.Tyr86Cys)
NM_000334.4(SCN4A):c.2585_2602del (p.Asp862_Ala867del) rs776181227
NM_000334.4(SCN4A):c.2593G>A (p.Gly865Arg) rs752159625
NM_000334.4(SCN4A):c.2593G>C (p.Gly865Arg) rs752159625
NM_000334.4(SCN4A):c.2596G>A (p.Glu866Lys)
NM_000334.4(SCN4A):c.2599_2616del (p.864AGE[1])
NM_000334.4(SCN4A):c.2599_2616dup (p.864_866AGE[5]) rs768289095
NM_000334.4(SCN4A):c.2608G>A (p.Ala870Thr) rs2144786989
NM_000334.4(SCN4A):c.2612G>T (p.Gly871Val)
NM_000334.4(SCN4A):c.2623C>G (p.Pro875Ala) rs201148948
NM_000334.4(SCN4A):c.2631T>A (p.Asp877Glu)
NM_000334.4(SCN4A):c.2635AAG[1] (p.Lys880del) rs760403755
NM_000334.4(SCN4A):c.2644C>A (p.Pro882Thr)
NM_000334.4(SCN4A):c.2645C>T (p.Pro882Leu)
NM_000334.4(SCN4A):c.2647C>T (p.Pro883Ser) rs1908913430
NM_000334.4(SCN4A):c.2656G>A (p.Asp886Asn)
NM_000334.4(SCN4A):c.2662AAG[1] (p.Lys889del) rs775415120
NM_000334.4(SCN4A):c.2675A>G (p.His892Arg) rs1597973637
NM_000334.4(SCN4A):c.2686C>T (p.His896Tyr)
NM_000334.4(SCN4A):c.2689A>G (p.Met897Val)
NM_000334.4(SCN4A):c.2690T>A (p.Met897Lys) rs370879135
NM_000334.4(SCN4A):c.2690T>C (p.Met897Thr) rs370879135
NM_000334.4(SCN4A):c.2692G>T (p.Gly898Cys) rs1908911247
NM_000334.4(SCN4A):c.2699C>G (p.Ala900Gly) rs2144786776
NM_000334.4(SCN4A):c.2711C>A (p.Pro904Gln) rs867372759
NM_000334.4(SCN4A):c.2732A>G (p.His911Arg) rs1908907908
NM_000334.4(SCN4A):c.2773C>T (p.Pro925Ser) rs1567820767
NM_000334.4(SCN4A):c.2774C>G (p.Pro925Arg)
NM_000334.4(SCN4A):c.2780C>T (p.Ala927Val)
NM_000334.4(SCN4A):c.2794G>T (p.Asp932Tyr)
NM_000334.4(SCN4A):c.2795A>C (p.Asp932Ala) rs1597973465
NM_000334.4(SCN4A):c.2801A>T (p.Glu934Val)
NM_000334.4(SCN4A):c.2805G>A (p.Met935Ile)
NM_000334.4(SCN4A):c.2825A>G (p.Asp942Gly) rs1908902761
NM_000334.4(SCN4A):c.2849G>C (p.Ser950Thr)
NM_000334.4(SCN4A):c.2854-3C>T
NM_000334.4(SCN4A):c.2854-9C>T
NM_000334.4(SCN4A):c.2863C>A (p.Gln955Lys) rs1185395150
NM_000334.4(SCN4A):c.2869C>T (p.Leu957Phe)
NM_000334.4(SCN4A):c.289A>G (p.Asn97Asp)
NM_000334.4(SCN4A):c.2900C>T (p.Thr967Ile) rs1908838389
NM_000334.4(SCN4A):c.2905G>A (p.Asp969Asn) rs2144784455
NM_000334.4(SCN4A):c.2914C>T (p.Pro972Ser)
NM_000334.4(SCN4A):c.2930C>T (p.Pro977Leu)
NM_000334.4(SCN4A):c.2932G>C (p.Glu978Gln) rs1555601999
NM_000334.4(SCN4A):c.2944G>A (p.Glu982Lys)
NM_000334.4(SCN4A):c.2947G>A (p.Glu983Lys) rs1555601991
NM_000334.4(SCN4A):c.2952C>A (p.Asn984Lys)
NM_000334.4(SCN4A):c.2953C>T (p.Pro985Ser) rs1322343855
NM_000334.4(SCN4A):c.2959G>A (p.Gly987Arg)
NM_000334.4(SCN4A):c.2962G>A (p.Glu988Lys)
NM_000334.4(SCN4A):c.2968C>A (p.Pro990Thr)
NM_000334.4(SCN4A):c.2974G>A (p.Glu992Lys)
NM_000334.4(SCN4A):c.2989G>A (p.Ala997Thr)
NM_000334.4(SCN4A):c.2992T>C (p.Cys998Arg) rs1555601897
NM_000334.4(SCN4A):c.2996T>A (p.Val999Glu)
NM_000334.4(SCN4A):c.2998C>G (p.Gln1000Glu)
NM_000334.4(SCN4A):c.3006G>C (p.Trp1002Cys)
NM_000334.4(SCN4A):c.3010T>A (p.Cys1004Ser)
NM_000334.4(SCN4A):c.3035G>A (p.Gly1012Asp)
NM_000334.4(SCN4A):c.3037C>T (p.Arg1013Cys) rs1351279439
NM_000334.4(SCN4A):c.3038G>T (p.Arg1013Leu)
NM_000334.4(SCN4A):c.3050G>C (p.Trp1017Ser)
NM_000334.4(SCN4A):c.305T>C (p.Ile102Thr)
NM_000334.4(SCN4A):c.3062G>A (p.Arg1021His) rs770497876
NM_000334.4(SCN4A):c.3064A>G (p.Arg1022Gly)
NM_000334.4(SCN4A):c.3065G>A (p.Arg1022Lys) rs1285110954
NM_000334.4(SCN4A):c.3089A>G (p.His1030Arg)
NM_000334.4(SCN4A):c.3095G>C (p.Trp1032Ser)
NM_000334.4(SCN4A):c.3100G>A (p.Glu1034Lys)
NM_000334.4(SCN4A):c.3109A>T (p.Ile1037Phe)
NM_000334.4(SCN4A):c.310C>T (p.Arg104Cys)
NM_000334.4(SCN4A):c.3118A>G (p.Met1040Val)
NM_000334.4(SCN4A):c.3144+3A>G
NM_000334.4(SCN4A):c.314T>C (p.Phe105Ser) rs1347004471
NM_000334.4(SCN4A):c.3151G>A (p.Glu1051Lys) rs1555601786
NM_000334.4(SCN4A):c.3157A>G (p.Ile1053Val)
NM_000334.4(SCN4A):c.3159C>G (p.Ile1053Met) rs1302161849
NM_000334.4(SCN4A):c.315C>A (p.Phe105Leu)
NM_000334.4(SCN4A):c.3160T>C (p.Tyr1054His)
NM_000334.4(SCN4A):c.3164T>A (p.Ile1055Asn)
NM_000334.4(SCN4A):c.3172C>T (p.Arg1058Trp)
NM_000334.4(SCN4A):c.3184C>T (p.Arg1062Cys)
NM_000334.4(SCN4A):c.3185G>C (p.Arg1062Pro) rs769704334
NM_000334.4(SCN4A):c.3188C>T (p.Thr1063Ile)
NM_000334.4(SCN4A):c.319G>A (p.Ala107Thr)
NM_000334.4(SCN4A):c.3218C>A (p.Thr1073Asn)
NM_000334.4(SCN4A):c.3229A>G (p.Ile1077Val)
NM_000334.4(SCN4A):c.3233T>C (p.Met1078Thr)
NM_000334.4(SCN4A):c.3240G>T (p.Met1080Ile)
NM_000334.4(SCN4A):c.3262G>A (p.Gly1088Ser) rs1282585219
NM_000334.4(SCN4A):c.3271G>A (p.Val1091Met)
NM_000334.4(SCN4A):c.3293G>T (p.Cys1098Phe) rs1050182641
NM_000334.4(SCN4A):c.3301G>A (p.Asp1101Asn)
NM_000334.4(SCN4A):c.3303C>G (p.Asp1101Glu) rs1908777669
NM_000334.4(SCN4A):c.3312C>G (p.Ile1104Met) rs779189351
NM_000334.4(SCN4A):c.3313G>A (p.Val1105Met) rs756884948
NM_000334.4(SCN4A):c.3313G>T (p.Val1105Leu)
NM_000334.4(SCN4A):c.3322T>A (p.Ser1108Thr)
NM_000334.4(SCN4A):c.3325A>C (p.Ile1109Leu)
NM_000334.4(SCN4A):c.3328A>G (p.Ile1110Val)
NM_000334.4(SCN4A):c.3340G>T (p.Ala1114Ser)
NM_000334.4(SCN4A):c.3359C>G (p.Ser1120Trp)
NM_000334.4(SCN4A):c.3359C>T (p.Ser1120Leu) rs1314399622
NM_000334.4(SCN4A):c.3368G>A (p.Gly1123Glu)
NM_000334.4(SCN4A):c.3377A>G (p.Lys1126Arg)
NM_000334.4(SCN4A):c.3386G>C (p.Arg1129Pro) rs527236149
NM_000334.4(SCN4A):c.3436A>G (p.Met1146Val)
NM_000334.4(SCN4A):c.3440G>C (p.Arg1147Thr) rs1908747679
NM_000334.4(SCN4A):c.3442-3C>T rs2144779639
NM_000334.4(SCN4A):c.3445G>T (p.Val1149Leu) rs1908692348
NM_000334.4(SCN4A):c.3454G>A (p.Ala1152Thr)
NM_000334.4(SCN4A):c.345C>A (p.Ser115Arg)
NM_000334.4(SCN4A):c.3466G>T (p.Ala1156Ser) rs80338958
NM_000334.4(SCN4A):c.3491T>C (p.Leu1164Pro) rs1444949985
NM_000334.4(SCN4A):c.3506T>C (p.Ile1169Thr)
NM_000334.4(SCN4A):c.3532G>A (p.Gly1178Ser)
NM_000334.4(SCN4A):c.3535G>A (p.Val1179Ile)
NM_000334.4(SCN4A):c.3539A>G (p.Asn1180Ser) rs1908688683
NM_000334.4(SCN4A):c.3539A>T (p.Asn1180Ile) rs1908688683
NM_000334.4(SCN4A):c.3562T>C (p.Tyr1188His)
NM_000334.4(SCN4A):c.358G>A (p.Val120Ile)
NM_000334.4(SCN4A):c.3598A>G (p.Ile1200Val)
NM_000334.4(SCN4A):c.3604G>C (p.Glu1202Gln)
NM_000334.4(SCN4A):c.3615C>G (p.Asn1205Lys) rs1181083611
NM_000334.4(SCN4A):c.3624G>C (p.Glu1208Asp)
NM_000334.4(SCN4A):c.3628G>A (p.Glu1210Lys)
NM_000334.4(SCN4A):c.3633C>A (p.Ser1211Arg)
NM_000334.4(SCN4A):c.3638T>G (p.Met1213Arg)
NM_000334.4(SCN4A):c.3649C>A (p.Gln1217Lys)
NM_000334.4(SCN4A):c.3652G>T (p.Val1218Phe)
NM_000334.4(SCN4A):c.3656G>A (p.Arg1219His)
NM_000334.4(SCN4A):c.365G>T (p.Arg122Leu) rs374529559
NM_000334.4(SCN4A):c.3682G>A (p.Asp1228Asn)
NM_000334.4(SCN4A):c.3685A>G (p.Asn1229Asp)
NM_000334.4(SCN4A):c.3686A>G (p.Asn1229Ser) rs900270228
NM_000334.4(SCN4A):c.3720+6T>C
NM_000334.4(SCN4A):c.3720G>A (p.Val1240=) rs1567818014
NM_000334.4(SCN4A):c.3722C>G (p.Ala1241Gly)
NM_000334.4(SCN4A):c.373A>G (p.Ile125Val)
NM_000334.4(SCN4A):c.3740T>C (p.Met1247Thr)
NM_000334.4(SCN4A):c.3748A>G (p.Met1250Val)
NM_000334.4(SCN4A):c.3754G>A (p.Ala1252Thr)
NM_000334.4(SCN4A):c.3770G>A (p.Arg1257Gln)
NM_000334.4(SCN4A):c.377A>G (p.Lys126Arg) rs1909639891
NM_000334.4(SCN4A):c.3788C>T (p.Pro1263Leu) rs767272792
NM_000334.4(SCN4A):c.3799G>A (p.Val1267Met)
NM_000334.4(SCN4A):c.379G>A (p.Val127Met)
NM_000334.4(SCN4A):c.3811A>G (p.Met1271Val) rs2144778458
NM_000334.4(SCN4A):c.3829A>G (p.Ile1277Val) rs776750130
NM_000334.4(SCN4A):c.3853T>C (p.Phe1285Leu) rs373730802
NM_000334.4(SCN4A):c.3853T>G (p.Phe1285Val) rs373730802
NM_000334.4(SCN4A):c.3868T>C (p.Phe1290Leu)
NM_000334.4(SCN4A):c.3872T>C (p.Ile1291Thr)
NM_000334.4(SCN4A):c.3890A>G (p.Asn1297Ser)
NM_000334.4(SCN4A):c.3893T>G (p.Phe1298Cys) rs886043595
NM_000334.4(SCN4A):c.3896A>T (p.Asn1299Ile) rs2144778363
NM_000334.4(SCN4A):c.3898C>G (p.Gln1300Glu) rs1357732381
NM_000334.4(SCN4A):c.3898CAG[1] (p.Gln1301del) rs752135284
NM_000334.4(SCN4A):c.389A>T (p.His130Leu)
NM_000334.4(SCN4A):c.3904A>G (p.Lys1302Glu) rs1555601285
NM_000334.4(SCN4A):c.3906G>C (p.Lys1302Asn)
NM_000334.4(SCN4A):c.3908A>G (p.Lys1303Arg)
NM_000334.4(SCN4A):c.3910_3912del rs1326940129
NM_000334.4(SCN4A):c.3912+10A>C
NM_000334.4(SCN4A):c.3912+3G>A
NM_000334.4(SCN4A):c.3912+6_3912+15del
NM_000334.4(SCN4A):c.3913T>G (p.Leu1305Val)
NM_000334.4(SCN4A):c.3921G>T (p.Gly1307=) rs1908625994
NM_000334.4(SCN4A):c.3925G>C (p.Asp1309His)
NM_000334.4(SCN4A):c.3926A>G (p.Asp1309Gly)
NM_000334.4(SCN4A):c.392C>A (p.Ala131Glu)
NM_000334.4(SCN4A):c.3955_3956delinsAT (p.Tyr1319Ile) rs1908624669
NM_000334.4(SCN4A):c.3957_3959del (p.Tyr1320del)
NM_000334.4(SCN4A):c.3958T>C (p.Tyr1320His)
NM_000334.4(SCN4A):c.395T>G (p.Leu132Arg)
NM_000334.4(SCN4A):c.3964G>A (p.Ala1322Thr)
NM_000334.4(SCN4A):c.3965C>T (p.Ala1322Val) rs1567817350
NM_000334.4(SCN4A):c.3967A>G (p.Met1323Val) rs1908623807
NM_000334.4(SCN4A):c.3986A>G (p.Lys1329Arg)
NM_000334.4(SCN4A):c.3987G>C (p.Lys1329Asn)
NM_000334.4(SCN4A):c.4017+5A>G
NM_000334.4(SCN4A):c.4018-3C>T
NM_000334.4(SCN4A):c.4044C>A (p.Asp1348Glu)
NM_000334.4(SCN4A):c.4045C>T (p.Leu1349Phe) rs994344058
NM_000334.4(SCN4A):c.4060G>A (p.Ala1354Thr) rs2144776414
NM_000334.4(SCN4A):c.4063T>G (p.Phe1355Val)
NM_000334.4(SCN4A):c.4069A>C (p.Ile1357Leu) rs1555601045
NM_000334.4(SCN4A):c.4069A>G (p.Ile1357Val)
NM_000334.4(SCN4A):c.4075A>C (p.Ile1359Leu)
NM_000334.4(SCN4A):c.4077C>G (p.Ile1359Met) rs1908595411
NM_000334.4(SCN4A):c.4086_4087delinsAT (p.Ile1363Phe) rs1598405727
NM_000334.4(SCN4A):c.4099A>G (p.Met1367Val)
NM_000334.4(SCN4A):c.4117G>C (p.Glu1373Gln) rs1555601036
NM_000334.4(SCN4A):c.4127A>C (p.Asn1376Thr)
NM_000334.4(SCN4A):c.4128C>A (p.Asn1376Lys)
NM_000334.4(SCN4A):c.412A>C (p.Met138Leu) rs749604225
NM_000334.4(SCN4A):c.4144G>A (p.Val1382Met)
NM_000334.4(SCN4A):c.4167C>A (p.Asn1389Lys) rs1908591302
NM_000334.4(SCN4A):c.4168A>G (p.Met1390Val) rs754311975
NM_000334.4(SCN4A):c.4171A>G (p.Ile1391Val)
NM_000334.4(SCN4A):c.4177A>G (p.Ile1393Val)
NM_000334.4(SCN4A):c.4183A>G (p.Ile1395Val) rs1908590330
NM_000334.4(SCN4A):c.418A>G (p.Thr140Ala)
NM_000334.4(SCN4A):c.4198T>A (p.Cys1400Ser) rs2144776208
NM_000334.4(SCN4A):c.4207A>C (p.Lys1403Gln)
NM_000334.4(SCN4A):c.4210A>G (p.Met1404Val)
NM_000334.4(SCN4A):c.4222C>A (p.Arg1408Ser) rs118047588
NM_000334.4(SCN4A):c.4222C>T (p.Arg1408Cys) rs118047588
NM_000334.4(SCN4A):c.4223G>A (p.Arg1408His)
NM_000334.4(SCN4A):c.4229A>G (p.Tyr1410Cys) rs2144776160
NM_000334.4(SCN4A):c.4234T>C (p.Phe1412Leu)
NM_000334.4(SCN4A):c.4238C>T (p.Thr1413Ile)
NM_000334.4(SCN4A):c.4274T>C (p.Ile1425Thr)
NM_000334.4(SCN4A):c.4280C>T (p.Ser1427Phe) rs1908586568
NM_000334.4(SCN4A):c.4286T>C (p.Val1429Ala) rs1267823304
NM_000334.4(SCN4A):c.4288+3G>A
NM_000334.4(SCN4A):c.4294G>C (p.Ala1432Pro) rs1383238269
NM_000334.4(SCN4A):c.4297C>T (p.Leu1433Phe)
NM_000334.4(SCN4A):c.4301C>A (p.Ser1434Tyr) rs1908553663
NM_000334.4(SCN4A):c.4345G>A (p.Val1449Met) rs1908551755
NM_000334.4(SCN4A):c.4351C>T (p.Arg1451Cys)
NM_000334.4(SCN4A):c.4361G>A (p.Arg1454Gln) rs374074988
NM_000334.4(SCN4A):c.4367G>T (p.Gly1456Val)
NM_000334.4(SCN4A):c.4369C>T (p.Arg1457Cys) rs1473372899
NM_000334.4(SCN4A):c.4382T>C (p.Leu1461Pro)
NM_000334.4(SCN4A):c.4387C>T (p.Arg1463Cys)
NM_000334.4(SCN4A):c.4390G>C (p.Gly1464Arg) rs150423825
NM_000334.4(SCN4A):c.4390G>T (p.Gly1464Trp)
NM_000334.4(SCN4A):c.4396A>G (p.Lys1466Glu)
NM_000334.4(SCN4A):c.4405C>T (p.Arg1469Trp)
NM_000334.4(SCN4A):c.4415T>C (p.Leu1472Pro) rs1057520169
NM_000334.4(SCN4A):c.4424T>C (p.Leu1475Pro)
NM_000334.4(SCN4A):c.4426A>C (p.Met1476Leu)
NM_000334.4(SCN4A):c.4433C>T (p.Ser1478Leu)
NM_000334.4(SCN4A):c.4456G>A (p.Gly1486Ser)
NM_000334.4(SCN4A):c.4457G>T (p.Gly1486Val) rs1567816424
NM_000334.4(SCN4A):c.4459C>T (p.Leu1487Phe) rs1908545064
NM_000334.4(SCN4A):c.4474G>A (p.Val1492Ile)
NM_000334.4(SCN4A):c.4477A>G (p.Met1493Val) rs1280474636
NM_000334.4(SCN4A):c.4485C>G (p.Ile1495Met)
NM_000334.4(SCN4A):c.448A>G (p.Met150Val)
NM_000334.4(SCN4A):c.4490C>A (p.Ser1497Tyr) rs2144774561
NM_000334.4(SCN4A):c.449T>A (p.Met150Lys) rs1009083383
NM_000334.4(SCN4A):c.449T>C (p.Met150Thr)
NM_000334.4(SCN4A):c.4507A>G (p.Asn1503Asp)
NM_000334.4(SCN4A):c.4522A>G (p.Lys1508Glu) rs1555600752
NM_000334.4(SCN4A):c.4541A>C (p.Asp1514Ala)
NM_000334.4(SCN4A):c.4544A>G (p.Asp1515Gly)
NM_000334.4(SCN4A):c.4555T>A (p.Phe1519Ile)
NM_000334.4(SCN4A):c.4557C>A (p.Phe1519Leu) rs931435454
NM_000334.4(SCN4A):c.4558G>A (p.Glu1520Lys) rs898253712
NM_000334.4(SCN4A):c.4564T>G (p.Phe1522Val)
NM_000334.4(SCN4A):c.4568G>A (p.Gly1523Asp) rs1285419994
NM_000334.4(SCN4A):c.4591G>A (p.Glu1531Lys) rs1555600732
NM_000334.4(SCN4A):c.4601C>A (p.Thr1534Lys) rs939785324
NM_000334.4(SCN4A):c.4610G>C (p.Gly1537Ala)
NM_000334.4(SCN4A):c.4615G>A (p.Asp1539Asn)
NM_000334.4(SCN4A):c.4615G>C (p.Asp1539His)
NM_000334.4(SCN4A):c.4618G>A (p.Gly1540Arg)
NM_000334.4(SCN4A):c.461C>T (p.Pro154Leu) rs2144814296
NM_000334.4(SCN4A):c.4642A>G (p.Ser1548Gly) rs1567816311
NM_000334.4(SCN4A):c.4645G>A (p.Gly1549Arg) rs748122664
NM_000334.4(SCN4A):c.4646G>A (p.Gly1549Glu)
NM_000334.4(SCN4A):c.4648C>A (p.Pro1550Thr)
NM_000334.4(SCN4A):c.4660G>T (p.Asp1554Tyr)
NM_000334.4(SCN4A):c.4678C>A (p.Pro1560Thr)
NM_000334.4(SCN4A):c.4693A>G (p.Lys1565Glu) rs1432251380
NM_000334.4(SCN4A):c.4696G>A (p.Gly1566Ser) rs1908533993
NM_000334.4(SCN4A):c.4717A>G (p.Ile1573Val)
NM_000334.4(SCN4A):c.472A>G (p.Lys158Glu) rs1555604989
NM_000334.4(SCN4A):c.4730T>A (p.Phe1577Tyr)
NM_000334.4(SCN4A):c.4744A>G (p.Ile1582Val)
NM_000334.4(SCN4A):c.4754C>T (p.Ser1585Phe)
NM_000334.4(SCN4A):c.4759_4761del (p.Leu1587del)
NM_000334.4(SCN4A):c.4781T>A (p.Ile1594Asn)
NM_000334.4(SCN4A):c.4783G>T (p.Ala1595Ser) rs761947899
NM_000334.4(SCN4A):c.479T>G (p.Val160Gly) rs2144814286
NM_000334.4(SCN4A):c.4819G>A (p.Glu1607Lys)
NM_000334.4(SCN4A):c.482+3A>G
NM_000334.4(SCN4A):c.4823G>C (p.Ser1608Thr) rs1908528535
NM_000334.4(SCN4A):c.4825A>C (p.Ser1609Arg) rs1555600678
NM_000334.4(SCN4A):c.4827C>G (p.Ser1609Arg)
NM_000334.4(SCN4A):c.483-2dup rs1909619860
NM_000334.4(SCN4A):c.483-3C>A rs759754258
NM_000334.4(SCN4A):c.483-3C>G rs759754258
NM_000334.4(SCN4A):c.483-3C>T rs759754258
NM_000334.4(SCN4A):c.483-6C>G
NM_000334.4(SCN4A):c.4831C>A (p.Pro1611Thr)
NM_000334.4(SCN4A):c.4837G>C (p.Gly1613Arg)
NM_000334.4(SCN4A):c.4844A>G (p.Asp1615Gly) rs2144773991
NM_000334.4(SCN4A):c.4868_4869inv (p.Thr1623Met)
NM_000334.4(SCN4A):c.4884C>A (p.Asp1628Glu)
NM_000334.4(SCN4A):c.4894A>T (p.Thr1632Ser)
NM_000334.4(SCN4A):c.4906G>A (p.Ala1636Thr)
NM_000334.4(SCN4A):c.4907C>T (p.Ala1636Val) rs770647690
NM_000334.4(SCN4A):c.4915C>T (p.Arg1639Cys) rs776231847
NM_000334.4(SCN4A):c.4930G>A (p.Val1644Met) rs775486265
NM_000334.4(SCN4A):c.4945G>A (p.Glu1649Lys)
NM_000334.4(SCN4A):c.494C>T (p.Thr165Ile) rs1322561669
NM_000334.4(SCN4A):c.4955G>A (p.Arg1652Lys) rs1314887157
NM_000334.4(SCN4A):c.4993G>C (p.Asp1665His) rs1567816038
NM_000334.4(SCN4A):c.499A>T (p.Ile167Phe)
NM_000334.4(SCN4A):c.5008C>T (p.Pro1670Ser)
NM_000334.4(SCN4A):c.5024A>G (p.His1675Arg)
NM_000334.4(SCN4A):c.5025C>A (p.His1675Gln)
NM_000334.4(SCN4A):c.5027G>C (p.Cys1676Ser)
NM_000334.4(SCN4A):c.5036T>C (p.Ile1679Thr) rs2144773647
NM_000334.4(SCN4A):c.5048T>A (p.Leu1683Gln)
NM_000334.4(SCN4A):c.5051C>T (p.Thr1684Ile) rs541964442
NM_000334.4(SCN4A):c.5056G>A (p.Glu1686Lys)
NM_000334.4(SCN4A):c.506C>A (p.Thr169Asn)
NM_000334.4(SCN4A):c.5075G>C (p.Gly1692Ala)
NM_000334.4(SCN4A):c.5102T>C (p.Met1701Thr) rs2144773551
NM_000334.4(SCN4A):c.5104GAG[1] (p.Glu1703del) rs1464481652
NM_000334.4(SCN4A):c.5105A>T (p.Glu1702Val) rs1555600604
NM_000334.4(SCN4A):c.5106G>C (p.Glu1702Asp)
NM_000334.4(SCN4A):c.5110_5112del (p.Lys1704del) rs1598404848
NM_000334.4(SCN4A):c.5115C>A (p.Phe1705Leu) rs1908515104
NM_000334.4(SCN4A):c.5120C>T (p.Ala1707Val)
NM_000334.4(SCN4A):c.5146G>A (p.Glu1716Lys)
NM_000334.4(SCN4A):c.514T>G (p.Ser172Ala)
NM_000334.4(SCN4A):c.5154C>G (p.Ile1718Met) rs2144773462
NM_000334.4(SCN4A):c.5156C>G (p.Thr1719Ser)
NM_000334.4(SCN4A):c.5162C>T (p.Thr1721Ile) rs1172419975
NM_000334.4(SCN4A):c.5179G>A (p.Glu1727Lys)
NM_000334.4(SCN4A):c.5185G>A (p.Val1729Met)
NM_000334.4(SCN4A):c.5192C>T (p.Ala1731Val)
NM_000334.4(SCN4A):c.5219G>A (p.Arg1740Gln)
NM_000334.4(SCN4A):c.5221C>A (p.His1741Asn)
NM_000334.4(SCN4A):c.5240T>C (p.Met1747Thr)
NM_000334.4(SCN4A):c.5243A>G (p.Lys1748Arg)
NM_000334.4(SCN4A):c.5248G>A (p.Ala1750Thr)
NM_000334.4(SCN4A):c.5254T>C (p.Tyr1752His)
NM_000334.4(SCN4A):c.5258T>C (p.Met1753Thr) rs1908507017
NM_000334.4(SCN4A):c.5263C>T (p.Arg1755Cys) rs758293600
NM_000334.4(SCN4A):c.5264G>T (p.Arg1755Leu)
NM_000334.4(SCN4A):c.5277C>G (p.Asp1759Glu) rs548333586
NM_000334.4(SCN4A):c.5282G>A (p.Ser1761Asn)
NM_000334.4(SCN4A):c.5284G>A (p.Gly1762Arg) rs763493738
NM_000334.4(SCN4A):c.5290G>A (p.Asp1764Asn) rs2144773136
NM_000334.4(SCN4A):c.5291A>G (p.Asp1764Gly) rs1567815771
NM_000334.4(SCN4A):c.5294C>A (p.Ala1765Asp)
NM_000334.4(SCN4A):c.5308G>A (p.Gly1770Arg)
NM_000334.4(SCN4A):c.532G>A (p.Ala178Thr)
NM_000334.4(SCN4A):c.5334G>T (p.Lys1778Asn) rs779474162
NM_000334.4(SCN4A):c.5337G>A (p.Met1779Ile)
NM_000334.4(SCN4A):c.5359A>C (p.Ser1787Arg) rs751841516
NM_000334.4(SCN4A):c.5359A>G (p.Ser1787Gly)
NM_000334.4(SCN4A):c.5363G>A (p.Ser1788Asn)
NM_000334.4(SCN4A):c.5377GAG[1] (p.Glu1794del) rs1908499632
NM_000334.4(SCN4A):c.5386G>A (p.Gly1796Ser) rs2144772958
NM_000334.4(SCN4A):c.5387G>A (p.Gly1796Asp)
NM_000334.4(SCN4A):c.5398G>A (p.Asp1800Asn)
NM_000334.4(SCN4A):c.5409dup (p.Thr1804fs)
NM_000334.4(SCN4A):c.5413A>G (p.Met1805Val)
NM_000334.4(SCN4A):c.5417G>A (p.Gly1806Glu) rs2144772881
NM_000334.4(SCN4A):c.5420_5425del6 rs781515976
NM_000334.4(SCN4A):c.5429T>C (p.Ile1810Thr)
NM_000334.4(SCN4A):c.5435C>A (p.Pro1812His)
NM_000334.4(SCN4A):c.5438C>A (p.Ser1813Ter) rs2144772835
NM_000334.4(SCN4A):c.5451G>A (p.Trp1817Ter)
NM_000334.4(SCN4A):c.5453C>T (p.Pro1818Leu)
NM_000334.4(SCN4A):c.5458G>A (p.Ala1820Thr)
NM_000334.4(SCN4A):c.5477_5478delinsTG (p.Thr1826Met) rs1567815577
NM_000334.4(SCN4A):c.5479G>A (p.Val1827Met)
NM_000334.4(SCN4A):c.5482C>A (p.Arg1828Ser)
NM_000334.4(SCN4A):c.548T>G (p.Val183Gly)
NM_000334.4(SCN4A):c.5498A>T (p.Glu1833Val)
NM_000334.4(SCN4A):c.550G>A (p.Asp184Asn)
NM_000334.4(SCN4A):c.554A>T (p.Asp185Val)
NM_000334.4(SCN4A):c.55C>T (p.Pro19Ser) rs772628295
NM_000334.4(SCN4A):c.569G>A (p.Arg190Gln)
NM_000334.4(SCN4A):c.575C>G (p.Pro192Arg)
NM_000334.4(SCN4A):c.592T>C (p.Phe198Leu) rs1438145853
NM_000334.4(SCN4A):c.596G>T (p.Ser199Ile)
NM_000334.4(SCN4A):c.598G>A (p.Val200Ile) rs2144813782
NM_000334.4(SCN4A):c.5C>T (p.Ala2Val)
NM_000334.4(SCN4A):c.604A>G (p.Met202Val)
NM_000334.4(SCN4A):c.605T>C (p.Met202Thr)
NM_000334.4(SCN4A):c.605T>G (p.Met202Arg)
NM_000334.4(SCN4A):c.606G>T (p.Met202Ile) rs769107760
NM_000334.4(SCN4A):c.611+3_611+7delinsAACC
NM_000334.4(SCN4A):c.619A>G (p.Thr207Ala) rs1567829142
NM_000334.4(SCN4A):c.628G>A (p.Val210Met) rs1389274007
NM_000334.4(SCN4A):c.64C>G (p.Arg22Gly)
NM_000334.4(SCN4A):c.65G>A (p.Arg22Gln) rs1413223155
NM_000334.4(SCN4A):c.685A>G (p.Thr229Ala) rs2144813124
NM_000334.4(SCN4A):c.688A>G (p.Ile230Val) rs2144813120
NM_000334.4(SCN4A):c.703+3A>T
NM_000334.4(SCN4A):c.704-6G>A
NM_000334.4(SCN4A):c.713C>A (p.Thr238Lys) rs201661188
NM_000334.4(SCN4A):c.724G>T (p.Ala242Ser)
NM_000334.4(SCN4A):c.733C>A (p.Gln245Lys) rs2144810270
NM_000334.4(SCN4A):c.735G>T (p.Gln245His)
NM_000334.4(SCN4A):c.737C>T (p.Ser246Leu) rs80338951
NM_000334.4(SCN4A):c.748C>A (p.Leu250Met)
NM_000334.4(SCN4A):c.754G>A (p.Asp252Asn)
NM_000334.4(SCN4A):c.760A>G (p.Met254Val)
NM_000334.4(SCN4A):c.794C>A (p.Ala265Glu) rs749502925
NM_000334.4(SCN4A):c.803G>C (p.Gly268Ala)
NM_000334.4(SCN4A):c.811C>T (p.Leu271Phe)
NM_000334.4(SCN4A):c.830G>A (p.Arg277Lys)
NM_000334.4(SCN4A):c.844C>T (p.Arg282Cys)
NM_000334.4(SCN4A):c.854C>T (p.Pro285Leu)
NM_000334.4(SCN4A):c.872A>G (p.Asn291Ser) rs781129876
NM_000334.4(SCN4A):c.883T>A (p.Tyr295Asn)
NM_000334.4(SCN4A):c.886_903dup (p.Ser296_Tyr301dup) rs769414184
NM_000334.4(SCN4A):c.897_914del (p.298DTWYGN[1])
NM_000334.4(SCN4A):c.908A>G (p.Asn303Ser)
NM_000334.4(SCN4A):c.909T>A (p.Asn303Lys)
NM_000334.4(SCN4A):c.90G>T (p.Gln30His)
NM_000334.4(SCN4A):c.912_929del (p.298_303DTWYGN[1]) rs1597985318
NM_000334.4(SCN4A):c.916T>C (p.Trp306Arg)
NM_000334.4(SCN4A):c.916T>G (p.Trp306Gly)
NM_000334.4(SCN4A):c.922G>A (p.Gly308Ser)
NM_000334.4(SCN4A):c.923_958del (p.Gly308_Tyr319del) rs776326538
NM_000334.4(SCN4A):c.92G>A (p.Arg31Gln)
NM_000334.4(SCN4A):c.938A>G (p.Tyr313Cys)
NM_000334.4(SCN4A):c.940G>A (p.Gly314Ser)
NM_000334.4(SCN4A):c.943A>C (p.Asn315His)
NM_000334.4(SCN4A):c.954G>T (p.Trp318Cys) rs779130822
NM_000334.4(SCN4A):c.956A>G (p.Tyr319Cys)
NM_000334.4(SCN4A):c.95C>A (p.Ala32Glu) rs765525226
NM_000334.4(SCN4A):c.95C>T (p.Ala32Val)
NM_000334.4(SCN4A):c.985A>G (p.Ser329Gly)
NM_000334.4(SCN4A):c.992C>T (p.Ala331Val)
NM_000891.3(KCNJ2):c.1007A>G (p.Tyr336Cys)
NM_000891.3(KCNJ2):c.1010A>G (p.Tyr337Cys)
NM_000891.3(KCNJ2):c.1015G>C (p.Val339Leu)
NM_000891.3(KCNJ2):c.101A>G (p.Lys34Arg) rs772815957
NM_000891.3(KCNJ2):c.1025C>G (p.Ser342Cys)
NM_000891.3(KCNJ2):c.1043A>G (p.Tyr348Cys) rs2144377812
NM_000891.3(KCNJ2):c.1063C>T (p.Leu355Phe) rs1411366891
NM_000891.3(KCNJ2):c.1067G>T (p.Cys356Phe) rs368406938
NM_000891.3(KCNJ2):c.106A>G (p.Lys36Glu)
NM_000891.3(KCNJ2):c.1085C>A (p.Ala362Glu)
NM_000891.3(KCNJ2):c.1088A>T (p.Glu363Val) rs2074391294
NM_000891.3(KCNJ2):c.1091A>G (p.Lys364Arg) rs1060500054
NM_000891.3(KCNJ2):c.1096T>A (p.Tyr366Asn) rs2144377919
NM_000891.3(KCNJ2):c.1103T>A (p.Leu368His) rs2144377937
NM_000891.3(KCNJ2):c.1109A>G (p.Asn370Ser) rs2144377959
NM_000891.3(KCNJ2):c.1112C>A (p.Ala371Glu) rs780233256
NM_000891.3(KCNJ2):c.1116T>G (p.Asn372Lys) rs2144377969
NM_000891.3(KCNJ2):c.1127A>G (p.Tyr376Cys)
NM_000891.3(KCNJ2):c.1141G>A (p.Ala381Thr)
NM_000891.3(KCNJ2):c.1148C>G (p.Thr383Arg)
NM_000891.3(KCNJ2):c.1151G>A (p.Ser384Asn)
NM_000891.3(KCNJ2):c.1169G>T (p.Ser390Ile)
NM_000891.3(KCNJ2):c.1181T>C (p.Val394Ala)
NM_000891.3(KCNJ2):c.1190G>A (p.Ser397Asn) rs1567823283
NM_000891.3(KCNJ2):c.1193C>A (p.Thr398Asn)
NM_000891.3(KCNJ2):c.1196G>A (p.Ser399Asn) rs1598211624
NM_000891.3(KCNJ2):c.1196G>C (p.Ser399Thr) rs1598211624
NM_000891.3(KCNJ2):c.1198A>G (p.Thr400Ala)
NM_000891.3(KCNJ2):c.119G>C (p.Arg40Pro) rs766143485
NM_000891.3(KCNJ2):c.119G>T (p.Arg40Leu)
NM_000891.3(KCNJ2):c.1202A>G (p.Asp401Gly)
NM_000891.3(KCNJ2):c.1212del (p.Asp405fs) rs2074392185
NM_000891.3(KCNJ2):c.1215C>A (p.Asp405Glu) rs863224374
NM_000891.3(KCNJ2):c.1222C>T (p.Leu408Phe) rs753757610
NM_000891.3(KCNJ2):c.1235C>T (p.Ala412Val)
NM_000891.3(KCNJ2):c.1237A>T (p.Ser413Cys) rs910587867
NM_000891.3(KCNJ2):c.1238G>T (p.Ser413Ile) rs779960704
NM_000891.3(KCNJ2):c.1244C>A (p.Pro415His)
NM_000891.3(KCNJ2):c.1264C>T (p.Arg422Trp) rs1478741381
NM_000891.3(KCNJ2):c.1265G>A (p.Arg422Gln)
NM_000891.3(KCNJ2):c.1265G>T (p.Arg422Leu) rs199473390
NM_000891.3(KCNJ2):c.1274C>T (p.Ser425Leu)
NM_000891.3(KCNJ2):c.1276G>A (p.Glu426Lys)
NM_000891.3(KCNJ2):c.1284A>G (p.Ter428Trp)
NM_000891.3(KCNJ2):c.131G>A (p.Arg44Lys) rs2144376473
NM_000891.3(KCNJ2):c.136C>G (p.Arg46Gly) rs2074385043
NM_000891.3(KCNJ2):c.136C>T (p.Arg46Cys) rs2074385043
NM_000891.3(KCNJ2):c.137G>A (p.Arg46His)
NM_000891.3(KCNJ2):c.13C>G (p.Arg5Gly)
NM_000891.3(KCNJ2):c.142G>A (p.Val48Met)
NM_000891.3(KCNJ2):c.149A>G (p.Lys50Arg) rs2144376499
NM_000891.3(KCNJ2):c.158A>G (p.His53Arg) rs1598211051
NM_000891.3(KCNJ2):c.160T>G (p.Cys54Gly) rs2144376507
NM_000891.3(KCNJ2):c.191A>G (p.Lys64Arg) rs2144376559
NM_000891.3(KCNJ2):c.205C>T (p.Leu69Phe)
NM_000891.3(KCNJ2):c.208G>A (p.Ala70Thr) rs375605948
NM_000891.3(KCNJ2):c.211G>C (p.Asp71His) rs199473369
NM_000891.3(KCNJ2):c.214A>G (p.Ile72Val)
NM_000891.3(KCNJ2):c.215T>C (p.Ile72Thr)
NM_000891.3(KCNJ2):c.224C>A (p.Thr75Lys)
NM_000891.3(KCNJ2):c.226T>G (p.Cys76Gly) rs786205812
NM_000891.3(KCNJ2):c.232G>C (p.Asp78His) rs199473372
NM_000891.3(KCNJ2):c.238C>T (p.Arg80Cys) rs2074385891
NM_000891.3(KCNJ2):c.239G>A (p.Arg80His) rs2144376668
NM_000891.3(KCNJ2):c.251T>C (p.Met84Thr)
NM_000891.3(KCNJ2):c.252G>A (p.Met84Ile)
NM_000891.3(KCNJ2):c.256G>T (p.Val86Phe) rs786205814
NM_000891.3(KCNJ2):c.259A>G (p.Ile87Val) rs748958117
NM_000891.3(KCNJ2):c.261C>G (p.Ile87Met)
NM_000891.3(KCNJ2):c.265T>C (p.Cys89Arg)
NM_000891.3(KCNJ2):c.271G>A (p.Ala91Thr) rs2144376712
NM_000891.3(KCNJ2):c.272C>T (p.Ala91Val)
NM_000891.3(KCNJ2):c.290T>C (p.Leu97Pro) rs2144376751
NM_000891.3(KCNJ2):c.291_293del (p.Phe99del) rs2074386225
NM_000891.3(KCNJ2):c.299G>T (p.Gly100Val) rs1598211153
NM_000891.3(KCNJ2):c.29G>A (p.Ser10Asn)
NM_000891.3(KCNJ2):c.317T>C (p.Ile106Thr)
NM_000891.3(KCNJ2):c.31A>G (p.Ile11Val)
NM_000891.3(KCNJ2):c.326T>A (p.Leu109His)
NM_000891.3(KCNJ2):c.326T>C (p.Leu109Pro) rs1567822991
NM_000891.3(KCNJ2):c.341A>G (p.Asp114Gly) rs2074386589
NM_000891.3(KCNJ2):c.371C>G (p.Ser124Cys) rs2144376873
NM_000891.3(KCNJ2):c.373G>A (p.Glu125Lys) rs2074386756
NM_000891.3(KCNJ2):c.381C>G (p.Asn127Lys)
NM_000891.3(KCNJ2):c.394G>A (p.Ala132Thr) rs2074386902
NM_000891.3(KCNJ2):c.410T>A (p.Ile137Asn) rs772055408
NM_000891.3(KCNJ2):c.410T>C (p.Ile137Thr)
NM_000891.3(KCNJ2):c.416C>T (p.Thr139Ile) rs1060500052
NM_000891.3(KCNJ2):c.42AGA[2] (p.Glu16del)
NM_000891.3(KCNJ2):c.431G>T (p.Gly144Val)
NM_000891.3(KCNJ2):c.437G>A (p.Gly146Asp) rs199473379
NM_000891.3(KCNJ2):c.452C>T (p.Thr151Met)
NM_000891.3(KCNJ2):c.459A>C (p.Glu153Asp)
NM_000891.3(KCNJ2):c.460T>C (p.Cys154Arg)
NM_000891.3(KCNJ2):c.460T>G (p.Cys154Gly) rs2144376982
NM_000891.3(KCNJ2):c.461G>A (p.Cys154Tyr) rs199473380
NM_000891.3(KCNJ2):c.46G>C (p.Glu16Gln)
NM_000891.3(KCNJ2):c.478A>G (p.Met160Val)
NM_000891.3(KCNJ2):c.481G>A (p.Val161Met) rs2074387480
NM_000891.3(KCNJ2):c.496A>G (p.Ile166Val)
NM_000891.3(KCNJ2):c.499G>T (p.Val167Leu) rs140147979
NM_000891.3(KCNJ2):c.4G>C (p.Gly2Arg)
NM_000891.3(KCNJ2):c.500_514dup (p.Val167_Ile171dup) rs2144377032
NM_000891.3(KCNJ2):c.50A>G (p.Asp17Gly)
NM_000891.3(KCNJ2):c.517G>T (p.Ala173Ser) rs778699148
NM_000891.3(KCNJ2):c.523A>C (p.Ile175Leu) rs761209037
NM_000891.3(KCNJ2):c.52G>A (p.Gly18Ser) rs947488726
NM_000891.3(KCNJ2):c.52G>C (p.Gly18Arg)
NM_000891.3(KCNJ2):c.553A>G (p.Lys185Glu)
NM_000891.3(KCNJ2):c.556C>A (p.Pro186Thr)
NM_000891.3(KCNJ2):c.55A>T (p.Met19Leu)
NM_000891.3(KCNJ2):c.566G>C (p.Arg189Thr) rs199473381
NM_000891.3(KCNJ2):c.569A>T (p.Asn190Ile) rs1598211282
NM_000891.3(KCNJ2):c.578T>A (p.Leu193His) rs1555603955
NM_000891.3(KCNJ2):c.578T>G (p.Leu193Arg)
NM_000891.3(KCNJ2):c.580G>T (p.Val194Phe)
NM_000891.3(KCNJ2):c.586A>C (p.Ser196Arg)
NM_000891.3(KCNJ2):c.591C>G (p.His197Gln)
NM_000891.3(KCNJ2):c.617G>A (p.Gly206Asp)
NM_000891.3(KCNJ2):c.633G>A (p.Met211Ile)
NM_000891.3(KCNJ2):c.638G>A (p.Arg213Gln)
NM_000891.3(KCNJ2):c.643G>T (p.Gly215Cys)
NM_000891.3(KCNJ2):c.647A>T (p.Asn216Ile) rs2074388429
NM_000891.3(KCNJ2):c.64G>A (p.Ala22Thr)
NM_000891.3(KCNJ2):c.653G>T (p.Arg218Leu) rs199473384
NM_000891.3(KCNJ2):c.659G>A (p.Ser220Asn) rs2074388522
NM_000891.3(KCNJ2):c.668T>G (p.Val223Gly) rs1555603969
NM_000891.3(KCNJ2):c.673G>A (p.Ala225Thr)
NM_000891.3(KCNJ2):c.683G>A (p.Arg228Gln) rs1234083049
NM_000891.3(KCNJ2):c.706A>C (p.Ile236Leu)
NM_000891.3(KCNJ2):c.70A>G (p.Met24Val)
NM_000891.3(KCNJ2):c.721G>A (p.Glu241Lys)
NM_000891.3(KCNJ2):c.743T>C (p.Ile248Thr)
NM_000891.3(KCNJ2):c.744A>G (p.Ile248Met)
NM_000891.3(KCNJ2):c.763G>C (p.Asp255His)
NM_000891.3(KCNJ2):c.784T>G (p.Phe262Val) rs2074389312
NM_000891.3(KCNJ2):c.79G>A (p.Ala27Thr)
NM_000891.3(KCNJ2):c.867C>A (p.Asn289Lys)
NM_000891.3(KCNJ2):c.877G>C (p.Glu293Gln) rs2144377579
NM_000891.3(KCNJ2):c.89T>C (p.Phe30Ser)
NM_000891.3(KCNJ2):c.901A>C (p.Met301Leu) rs786205818
NM_000891.3(KCNJ2):c.901A>G (p.Met301Val) rs786205818
NM_000891.3(KCNJ2):c.922A>T (p.Thr308Ser) rs2144377666
NM_000891.3(KCNJ2):c.923C>T (p.Thr308Met)
NM_000891.3(KCNJ2):c.929A>G (p.Gln310Arg) rs1598211487
NM_000891.3(KCNJ2):c.954T>G (p.Asn318Lys)
NM_000891.3(KCNJ2):c.96C>G (p.Asn32Lys)
NM_000891.3(KCNJ2):c.979G>A (p.Glu327Lys)
NM_000891.3(KCNJ2):c.97G>A (p.Gly33Arg) rs375727662
NM_000891.3(KCNJ2):c.97G>C (p.Gly33Arg) rs375727662
NM_000891.3(KCNJ2):c.981G>T (p.Glu327Asp)
NM_000891.3(KCNJ2):c.985G>C (p.Val329Leu)

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