ClinVar Miner

List of variants reported as uncertain significance for Familial hyperkalemic periodic paralysis

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 944
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HGVS dbSNP gnomAD frequency
NM_000334.4(SCN4A):c.*552A>G rs533628539 0.00113
NM_000334.4(SCN4A):c.*64G>A rs753971558 0.00080
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.*2085C>G rs756262968 0.00043
NM_000334.4(SCN4A):c.199A>G (p.Ile67Val) rs200834218 0.00041
NM_000334.4(SCN4A):c.*1069G>A rs368616841 0.00035
NM_000334.4(SCN4A):c.*780G>T rs562146322 0.00034
NM_000334.4(SCN4A):c.218C>T (p.Pro73Leu) rs75086141 0.00029
NM_000334.4(SCN4A):c.1926G>T (p.Trp642Cys) rs781412058 0.00027
NM_000334.4(SCN4A):c.*755G>A rs886053243 0.00025
NM_000334.4(SCN4A):c.845G>A (p.Arg282His) rs200615763 0.00025
NM_000334.4(SCN4A):c.*873G>C rs540759411 0.00024
NM_000334.4(SCN4A):c.4048G>A (p.Val1350Met) rs200274258 0.00024
NM_000334.4(SCN4A):c.3173G>A (p.Arg1058Gln) rs760649578 0.00021
NM_000334.4(SCN4A):c.2704G>A (p.Gly902Ser) rs200517944 0.00020
NM_000334.4(SCN4A):c.611C>T (p.Ala204Val) rs199859508 0.00018
NM_000334.4(SCN4A):c.211C>T (p.Pro71Ser) rs187055074 0.00017
NM_000334.4(SCN4A):c.4519G>A (p.Val1507Ile) rs140517911 0.00017
NM_000334.4(SCN4A):c.*1887A>G rs749866237 0.00012
NM_000334.4(SCN4A):c.2824G>A (p.Asp942Asn) rs761589948 0.00012
NM_000334.4(SCN4A):c.4891G>A (p.Ala1631Thr) rs201115695 0.00012
NM_000334.4(SCN4A):c.*1108C>G rs773016576 0.00011
NM_000334.4(SCN4A):c.145G>A (p.Glu49Lys) rs368011562 0.00011
NM_000334.4(SCN4A):c.2185T>C (p.Cys729Arg) rs200025736 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.4517A>T (p.Tyr1506Phe) rs762311521 0.00011
NM_000334.4(SCN4A):c.*1253G>A rs886053240 0.00010
NM_000334.4(SCN4A):c.5401G>A (p.Ala1801Thr) rs201192904 0.00010
NM_000334.4(SCN4A):c.5410A>G (p.Thr1804Ala) rs372635510 0.00010
NM_000334.4(SCN4A):c.5415G>A (p.Met1805Ile) rs368984178 0.00010
NM_000334.4(SCN4A):c.*630T>C rs779847568 0.00009
NM_000334.4(SCN4A):c.3136G>T (p.Gly1046Trp) rs759982229 0.00009
NM_000334.4(SCN4A):c.-67G>A rs191783461 0.00008
NM_000334.4(SCN4A):c.2220G>A (p.Pro740=) rs368278422 0.00008
NM_000334.4(SCN4A):c.*1313G>A rs761821168 0.00007
NM_000334.4(SCN4A):c.2054C>T (p.Thr685Met) rs140022722 0.00007
NM_000334.4(SCN4A):c.2468A>C (p.Gln823Pro) rs753182664 0.00007
NM_000334.4(SCN4A):c.4282A>G (p.Ile1428Val) rs368822028 0.00007
NM_000334.4(SCN4A):c.5404G>A (p.Gly1802Arg) rs267604988 0.00007
NM_000334.4(SCN4A):c.841G>A (p.Val281Met) rs370289618 0.00007
NM_000334.4(SCN4A):c.*1057C>T rs886053242 0.00006
NM_000334.4(SCN4A):c.*1172G>A rs540304010 0.00006
NM_000334.4(SCN4A):c.*2211C>T rs886053237 0.00006
NM_000334.4(SCN4A):c.112C>T (p.Arg38Trp) rs776201356 0.00006
NM_000334.4(SCN4A):c.1354G>A (p.Glu452Lys) rs372631097 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.364C>T (p.Arg122Cys) rs150158100 0.00006
NM_000334.4(SCN4A):c.365G>A (p.Arg122His) rs374529559 0.00006
NM_000334.4(SCN4A):c.4125C>T (p.Asp1375=) rs375607705 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.679C>T (p.Leu227Phe) rs368999500 0.00006
NM_000334.4(SCN4A):c.787G>A (p.Val263Ile) rs775418104 0.00006
NM_000334.4(SCN4A):c.*1572T>G rs771871843 0.00005
NM_000334.4(SCN4A):c.*754T>C rs574113483 0.00005
NM_000334.4(SCN4A):c.1139G>A (p.Arg380Gln) rs374446143 0.00005
NM_000334.4(SCN4A):c.1758C>G (p.Ile586Met) rs200779848 0.00005
NM_000334.4(SCN4A):c.1984G>A (p.Val662Ile) rs766975288 0.00005
NM_000334.4(SCN4A):c.2419G>A (p.Ala807Thr) rs770694096 0.00005
NM_000334.4(SCN4A):c.2662A>C (p.Lys888Gln) rs202155883 0.00005
NM_000334.4(SCN4A):c.307T>G (p.Phe103Val) rs554349260 0.00005
NM_000334.4(SCN4A):c.3185G>A (p.Arg1062His) rs769704334 0.00005
NM_000334.4(SCN4A):c.367G>A (p.Gly123Arg) rs377572814 0.00005
NM_000334.4(SCN4A):c.386T>C (p.Ile129Thr) rs369652972 0.00005
NM_000334.4(SCN4A):c.4288+6C>T rs148187651 0.00005
NM_000334.4(SCN4A):c.4711C>T (p.Pro1571Ser) rs772552529 0.00005
NM_000334.4(SCN4A):c.5218C>T (p.Arg1740Trp) rs373804267 0.00005
NM_000334.4(SCN4A):c.803G>C (p.Gly268Ala) rs748199549 0.00005
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.1606+3G>T rs377617612 0.00004
NM_000334.4(SCN4A):c.1790T>C (p.Met597Thr) rs2144798645 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.2626G>A (p.Glu876Lys) rs886053247 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.4648C>T (p.Pro1550Ser) rs957397485 0.00004
NM_000334.4(SCN4A):c.4906G>A (p.Ala1636Thr) rs764949354 0.00004
NM_000334.4(SCN4A):c.499A>T (p.Ile167Phe) rs763133221 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.5264G>A (p.Arg1755His) rs373278632 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_000334.4(SCN4A):c.91C>T (p.Arg31Trp) rs756059775 0.00004
NM_000334.4(SCN4A):c.*394A>C rs886053244 0.00003
NM_000334.4(SCN4A):c.1135G>A (p.Gly379Arg) rs201429528 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.1659C>G (p.His553Gln) rs2509311069 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.257A>G (p.Tyr86Cys) rs372641442 0.00003
NM_000334.4(SCN4A):c.2711C>G (p.Pro904Arg) rs867372759 0.00003
NM_000334.4(SCN4A):c.2956G>A (p.Glu986Lys) rs369128679 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.3386G>A (p.Arg1129Gln) rs527236149 0.00003
NM_000334.4(SCN4A):c.354C>T (p.Ser118=) rs753453769 0.00003
NM_000334.4(SCN4A):c.3622G>C (p.Glu1208Gln) rs754401226 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.4351C>T (p.Arg1451Cys) rs367960721 0.00003
NM_000334.4(SCN4A):c.4378C>T (p.Arg1460Trp) rs368256039 0.00003
NM_000334.4(SCN4A):c.4386C>G (p.Ile1462Met) rs763827415 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.4742A>G (p.Tyr1581Cys) rs912147252 0.00003
NM_000334.4(SCN4A):c.5179G>A (p.Glu1727Lys) rs747666894 0.00003
NM_000334.4(SCN4A):c.5239A>G (p.Met1747Val) rs748599327 0.00003
NM_000334.4(SCN4A):c.5240T>C (p.Met1747Thr) rs780708769 0.00003
NM_000334.4(SCN4A):c.5275G>A (p.Asp1759Asn) rs1015807829 0.00003
NM_000334.4(SCN4A):c.53G>A (p.Arg18His) rs557359808 0.00003
NM_000334.4(SCN4A):c.5453C>T (p.Pro1818Leu) rs556334853 0.00003
NM_000334.4(SCN4A):c.5482C>T (p.Arg1828Cys) rs758511540 0.00003
NM_000334.4(SCN4A):c.5506G>A (p.Val1836Ile) rs554836244 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_000334.4(SCN4A):c.-23G>T rs747406998 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.1299G>A (p.Leu433=) rs759176062 0.00002
NM_000334.4(SCN4A):c.1344G>A (p.Met448Ile) rs746055152 0.00002
NM_000334.4(SCN4A):c.1364A>C (p.Glu455Ala) rs1217352544 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.1583G>T (p.Ser528Ile) rs906634749 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.2182G>C (p.Glu728Gln) rs1555603141 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.2219C>T (p.Pro740Leu) rs371933998 0.00002
NM_000334.4(SCN4A):c.229G>A (p.Gly77Ser) rs369547459 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.2596G>A (p.Glu866Lys) rs766798755 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.2809A>C (p.Thr937Pro) rs752396330 0.00002
NM_000334.4(SCN4A):c.2914C>T (p.Pro972Ser) rs763835761 0.00002
NM_000334.4(SCN4A):c.3002G>A (p.Arg1001His) rs770588235 0.00002
NM_000334.4(SCN4A):c.3157A>G (p.Ile1053Val) rs776179378 0.00002
NM_000334.4(SCN4A):c.3205G>A (p.Asp1069Asn) rs373150395 0.00002
NM_000334.4(SCN4A):c.3238A>G (p.Met1080Val) rs201152347 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.3604G>A (p.Glu1202Lys) rs201916531 0.00002
NM_000334.4(SCN4A):c.3628G>A (p.Glu1210Lys) rs761135349 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.4390G>A (p.Gly1464Arg) rs150423825 0.00002
NM_000334.4(SCN4A):c.4433C>T (p.Ser1478Leu) rs201911612 0.00002
NM_000334.4(SCN4A):c.4547T>C (p.Met1516Thr) rs369886445 0.00002
NM_000334.4(SCN4A):c.4618G>A (p.Gly1540Arg) rs745467587 0.00002
NM_000334.4(SCN4A):c.4717A>G (p.Ile1573Val) rs750898250 0.00002
NM_000334.4(SCN4A):c.4805A>G (p.Asn1602Ser) rs756174308 0.00002
NM_000334.4(SCN4A):c.4884C>A (p.Asp1628Glu) rs369860177 0.00002
NM_000334.4(SCN4A):c.4907C>T (p.Ala1636Val) rs770647690 0.00002
NM_000334.4(SCN4A):c.4994A>C (p.Asp1665Ala) rs758866720 0.00002
NM_000334.4(SCN4A):c.5086G>A (p.Ala1696Thr) rs769365503 0.00002
NM_000334.4(SCN4A):c.5233C>T (p.Arg1745Cys) rs749841448 0.00002
NM_000334.4(SCN4A):c.5234G>A (p.Arg1745His) rs376526108 0.00002
NM_000334.4(SCN4A):c.5282G>A (p.Ser1761Asn) rs1238260829 0.00002
NM_000334.4(SCN4A):c.536G>A (p.Arg179Gln) rs777130479 0.00002
NM_000334.4(SCN4A):c.553G>A (p.Asp185Asn) rs778661227 0.00002
NM_000334.4(SCN4A):c.574C>T (p.Pro192Ser) rs751749964 0.00002
NM_000334.4(SCN4A):c.5C>T (p.Ala2Val) rs573062322 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.82A>C (p.Ile28Leu) rs886053250 0.00002
NM_000334.4(SCN4A):c.863A>G (p.Asn288Ser) rs771965654 0.00002
NM_000334.4(SCN4A):c.*1205C>G rs886053241 0.00001
NM_000334.4(SCN4A):c.*1218G>A rs908902727 0.00001
NM_000334.4(SCN4A):c.1000G>A (p.Asp334Asn) rs766055241 0.00001
NM_000334.4(SCN4A):c.1066G>A (p.Asp356Asn) rs750384234 0.00001
NM_000334.4(SCN4A):c.1088G>C (p.Ser363Thr) rs1265535231 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.1270A>G (p.Met424Val) rs1157823120 0.00001
NM_000334.4(SCN4A):c.1345G>A (p.Ala449Thr) rs972262577 0.00001
NM_000334.4(SCN4A):c.1356G>C (p.Glu452Asp) rs749394640 0.00001
NM_000334.4(SCN4A):c.1376C>A (p.Ala459Asp) rs1362538504 0.00001
NM_000334.4(SCN4A):c.1426A>G (p.Lys476Glu) rs1465194534 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.1517G>C (p.Cys506Ser) rs773527637 0.00001
NM_000334.4(SCN4A):c.151G>A (p.Glu51Lys) rs751390409 0.00001
NM_000334.4(SCN4A):c.1523G>C (p.Gly508Ala) rs2509314238 0.00001
NM_000334.4(SCN4A):c.1538C>T (p.Ser513Leu) rs1227159244 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.1575C>T (p.Ser525=) rs376538198 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.1791G>A (p.Met597Ile) rs1909243373 0.00001
NM_000334.4(SCN4A):c.1813C>T (p.His605Tyr) rs370438278 0.00001
NM_000334.4(SCN4A):c.1843C>A (p.Leu615Met) rs763346049 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.1906G>A (p.Glu636Lys) rs1428915702 0.00001
NM_000334.4(SCN4A):c.190C>G (p.Leu64Val) rs1480788895 0.00001
NM_000334.4(SCN4A):c.1943T>C (p.Ile648Thr) rs1204694543 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.2137A>G (p.Ile713Val) rs759800733 0.00001
NM_000334.4(SCN4A):c.2180A>G (p.Lys727Arg) rs1909102730 0.00001
NM_000334.4(SCN4A):c.219G>A (p.Pro73=) rs779890709 0.00001
NM_000334.4(SCN4A):c.2212A>T (p.Asn738Tyr) rs375026081 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.2241C>G (p.Phe747Leu) rs1188601087 0.00001
NM_000334.4(SCN4A):c.2267G>A (p.Arg756His) rs1343607212 0.00001
NM_000334.4(SCN4A):c.2280G>T (p.Gly760=) rs753779301 0.00001
NM_000334.4(SCN4A):c.2290G>A (p.Glu764Lys) rs1403270355 0.00001
NM_000334.4(SCN4A):c.2297T>C (p.Met766Thr) rs531287816 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.2356A>G (p.Met786Val) rs778729831 0.00001
NM_000334.4(SCN4A):c.2362A>G (p.Ile788Val) rs748811517 0.00001
NM_000334.4(SCN4A):c.2375T>C (p.Val792Ala) rs1357236962 0.00001
NM_000334.4(SCN4A):c.2420C>T (p.Ala807Val) rs749013806 0.00001
NM_000334.4(SCN4A):c.2452G>A (p.Glu818Lys) rs541785064 0.00001
NM_000334.4(SCN4A):c.2473G>A (p.Ala825Thr) rs1425177807 0.00001
NM_000334.4(SCN4A):c.2482C>T (p.Arg828Cys) rs760147196 0.00001
NM_000334.4(SCN4A):c.2575G>A (p.Gly859Arg) rs749473147 0.00001
NM_000334.4(SCN4A):c.2587G>A (p.Gly863Arg) rs752706137 0.00001
NM_000334.4(SCN4A):c.2608G>A (p.Ala870Thr) rs2144786989 0.00001
NM_000334.4(SCN4A):c.2609C>T (p.Ala870Val) rs764806517 0.00001
NM_000334.4(SCN4A):c.2689A>G (p.Met897Val) rs375067766 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.2729A>T (p.Asp910Val) rs565408498 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.2780C>T (p.Ala927Val) rs2144786597 0.00001
NM_000334.4(SCN4A):c.2802G>C (p.Glu934Asp) rs371920760 0.00001
NM_000334.4(SCN4A):c.2812G>A (p.Glu938Lys) rs374673348 0.00001
NM_000334.4(SCN4A):c.2849G>C (p.Ser950Thr) rs371425914 0.00001
NM_000334.4(SCN4A):c.2885C>T (p.Ser962Leu) rs746676885 0.00001
NM_000334.4(SCN4A):c.289A>G (p.Asn97Asp) rs774293481 0.00001
NM_000334.4(SCN4A):c.2947G>A (p.Glu983Lys) rs1555601991 0.00001
NM_000334.4(SCN4A):c.2952C>A (p.Asn984Lys) rs929800145 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.3050G>C (p.Trp1017Ser) rs1355795979 0.00001
NM_000334.4(SCN4A):c.3061C>T (p.Arg1021Cys) rs774176490 0.00001
NM_000334.4(SCN4A):c.3065G>A (p.Arg1022Lys) rs1285110954 0.00001
NM_000334.4(SCN4A):c.3080T>C (p.Ile1027Thr) rs772835617 0.00001
NM_000334.4(SCN4A):c.3093C>G (p.Asn1031Lys) rs779124566 0.00001
NM_000334.4(SCN4A):c.3172C>T (p.Arg1058Trp) rs764018183 0.00001
NM_000334.4(SCN4A):c.319G>A (p.Ala107Thr) rs538978403 0.00001
NM_000334.4(SCN4A):c.3248A>G (p.Lys1083Arg) rs774069214 0.00001
NM_000334.4(SCN4A):c.3271G>A (p.Val1091Met) rs1445626632 0.00001
NM_000334.4(SCN4A):c.3272T>C (p.Val1091Ala) rs1470875535 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.3359C>T (p.Ser1120Leu) rs1314399622 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.3535G>A (p.Val1179Ile) rs1190836399 0.00001
NM_000334.4(SCN4A):c.3562T>C (p.Tyr1188His) rs759107875 0.00001
NM_000334.4(SCN4A):c.3595G>A (p.Asp1199Asn) rs780268341 0.00001
NM_000334.4(SCN4A):c.3598A>G (p.Ile1200Val) rs868832929 0.00001
NM_000334.4(SCN4A):c.3639G>A (p.Met1213Ile) rs1267107348 0.00001
NM_000334.4(SCN4A):c.3656G>A (p.Arg1219His) rs1199448030 0.00001
NM_000334.4(SCN4A):c.3682G>A (p.Asp1228Asn) rs772250087 0.00001
NM_000334.4(SCN4A):c.3685A>G (p.Asn1229Asp) rs746126027 0.00001
NM_000334.4(SCN4A):c.373A>G (p.Ile125Val) rs774487720 0.00001
NM_000334.4(SCN4A):c.3760G>A (p.Val1254Met) rs763136642 0.00001
NM_000334.4(SCN4A):c.3770G>A (p.Arg1257Gln) rs1215570894 0.00001
NM_000334.4(SCN4A):c.3796G>A (p.Glu1266Lys) rs1398605254 0.00001
NM_000334.4(SCN4A):c.3811A>G (p.Met1271Val) rs2144778458 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.3964G>A (p.Ala1322Thr) rs1343277176 0.00001
NM_000334.4(SCN4A):c.3986A>G (p.Lys1329Arg) rs754942929 0.00001
NM_000334.4(SCN4A):c.4009C>T (p.Arg1337Trp) rs779717594 0.00001
NM_000334.4(SCN4A):c.4018-3C>T rs1039601897 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.4099A>G (p.Met1367Val) rs770769288 0.00001
NM_000334.4(SCN4A):c.4106C>A (p.Thr1369Asn) rs748313755 0.00001
NM_000334.4(SCN4A):c.415A>T (p.Ile139Phe) rs1433506611 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.4223G>A (p.Arg1408His) rs1214960715 0.00001
NM_000334.4(SCN4A):c.4238C>T (p.Thr1413Ile) rs1312318691 0.00001
NM_000334.4(SCN4A):c.4264G>A (p.Val1422Met) rs567183255 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.4288+3G>A rs1256372516 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.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.449T>C (p.Met150Thr) rs1009083383 0.00001
NM_000334.4(SCN4A):c.4503G>A (p.Met1501Ile) rs1467904959 0.00001
NM_000334.4(SCN4A):c.4558G>A (p.Glu1520Lys) rs898253712 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.4615G>A (p.Asp1539Asn) rs775792587 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.4744A>G (p.Ile1582Val) rs1908531869 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.4819G>A (p.Glu1607Lys) rs760087727 0.00001
NM_000334.4(SCN4A):c.4863C>T (p.Tyr1621=) rs769625349 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.4894A>T (p.Thr1632Ser) rs1377336175 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.5020A>G (p.Ile1674Val) rs752187063 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.5056G>A (p.Glu1686Lys) rs576168635 0.00001
NM_000334.4(SCN4A):c.5148G>A (p.Glu1716=) rs1244264430 0.00001
NM_000334.4(SCN4A):c.5162C>T (p.Thr1721Ile) rs1172419975 0.00001
NM_000334.4(SCN4A):c.5185G>A (p.Val1729Met) rs749647150 0.00001
NM_000334.4(SCN4A):c.5192C>T (p.Ala1731Val) rs944490990 0.00001
NM_000334.4(SCN4A):c.5216G>A (p.Arg1739His) rs1388841552 0.00001
NM_000334.4(SCN4A):c.5219G>A (p.Arg1740Gln) rs1450130627 0.00001
NM_000334.4(SCN4A):c.5237C>T (p.Ser1746Phe) rs770063781 0.00001
NM_000334.4(SCN4A):c.5243A>G (p.Lys1748Arg) rs1908507689 0.00001
NM_000334.4(SCN4A):c.5277C>G (p.Asp1759Glu) rs548333586 0.00001
NM_000334.4(SCN4A):c.5278G>A (p.Gly1760Ser) rs774530569 0.00001
NM_000334.4(SCN4A):c.5284G>A (p.Gly1762Arg) rs763493738 0.00001
NM_000334.4(SCN4A):c.5285G>A (p.Gly1762Glu) rs1328990008 0.00001
NM_000334.4(SCN4A):c.5290G>A (p.Asp1764Asn) rs2144773136 0.00001
NM_000334.4(SCN4A):c.5306A>C (p.Glu1769Ala) rs768251194 0.00001
NM_000334.4(SCN4A):c.5334G>T (p.Lys1778Asn) rs779474162 0.00001
NM_000334.4(SCN4A):c.5347G>A (p.Glu1783Lys) rs377673196 0.00001
NM_000334.4(SCN4A):c.5363G>A (p.Ser1788Asn) rs1374689731 0.00001
NM_000334.4(SCN4A):c.5375C>T (p.Pro1792Leu) rs750560473 0.00001
NM_000334.4(SCN4A):c.5387G>A (p.Gly1796Asp) rs762407587 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.5435C>A (p.Pro1812His) rs1290985727 0.00001
NM_000334.4(SCN4A):c.5457C>T (p.Pro1819=) rs761023866 0.00001
NM_000334.4(SCN4A):c.5458G>A (p.Ala1820Thr) rs775880707 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.5479G>A (p.Val1827Met) rs1272338162 0.00001
NM_000334.4(SCN4A):c.5492T>A (p.Val1831Asp) rs1300925199 0.00001
NM_000334.4(SCN4A):c.5495A>G (p.Lys1832Arg) rs778802285 0.00001
NM_000334.4(SCN4A):c.550G>A (p.Asp184Asn) rs1046930065 0.00001
NM_000334.4(SCN4A):c.554A>C (p.Asp185Ala) rs1597987427 0.00001
NM_000334.4(SCN4A):c.569G>A (p.Arg190Gln) rs755953358 0.00001
NM_000334.4(SCN4A):c.592T>C (p.Phe198Leu) rs1438145853 0.00001
NM_000334.4(SCN4A):c.628G>A (p.Val210Met) rs1389274007 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.754G>A (p.Asp252Asn) rs762578758 0.00001
NM_000334.4(SCN4A):c.760A>G (p.Met254Val) rs2509320801 0.00001
NM_000334.4(SCN4A):c.766C>T (p.Leu256Phe) rs764694733 0.00001
NM_000334.4(SCN4A):c.844C>T (p.Arg282Cys) rs1909513788 0.00001
NM_000334.4(SCN4A):c.858G>A (p.Pro286=) rs560230431 0.00001
NM_000334.4(SCN4A):c.904G>A (p.Gly302Ser) rs756852107 0.00001
NM_000334.4(SCN4A):c.916T>G (p.Trp306Gly) rs377602871 0.00001
NM_000334.4(SCN4A):c.943A>C (p.Asn315His) rs1247421815 0.00001
NM_000334.4(SCN4A):c.992C>T (p.Ala331Val) rs368831487 0.00001
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
NM_000083.3(CLCN1):c.2639_2641del (p.Leu880del) rs2485448195
NM_000334.4(SCN4A):c.*1345A>G rs1908450197
NM_000334.4(SCN4A):c.*1497C>T rs1908443762
NM_000334.4(SCN4A):c.*1505G>T rs1908443410
NM_000334.4(SCN4A):c.*1599A>G rs1908440330
NM_000334.4(SCN4A):c.*1875A>G rs886053239
NM_000334.4(SCN4A):c.*1890C>A rs886053238
NM_000334.4(SCN4A):c.*203T>G rs1908484940
NM_000334.4(SCN4A):c.*315C>T rs886053245
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) rs865837934
NM_000334.4(SCN4A):c.1070C>T (p.Ala357Val) rs1479638245
NM_000334.4(SCN4A):c.1094A>G (p.Asp365Gly) rs2144807923
NM_000334.4(SCN4A):c.109G>A (p.Ala37Thr) rs761255954
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.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.1271T>C (p.Met424Thr) rs1597982747
NM_000334.4(SCN4A):c.1276TTC[1] (p.Phe427del) rs2509315854
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) rs765847714
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) rs2509315681
NM_000334.4(SCN4A):c.1343T>A (p.Met448Lys) rs768617159
NM_000334.4(SCN4A):c.1370C>A (p.Thr457Asn) rs1567826131
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) rs2509315523
NM_000334.4(SCN4A):c.1414C>A (p.Leu472Ile)
NM_000334.4(SCN4A):c.1414C>T (p.Leu472Phe) rs746109162
NM_000334.4(SCN4A):c.1441_1442delinsTT (p.Glu481Leu) rs1555604122
NM_000334.4(SCN4A):c.1514A>G (p.Asp505Gly) rs1909345706
NM_000334.4(SCN4A):c.1543G>A (p.Gly515Arg) rs1003243368
NM_000334.4(SCN4A):c.1543G>T (p.Gly515Trp) rs1003243368
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.1560G>C (p.Pro520=) rs373819078
NM_000334.4(SCN4A):c.1569_1570inv (p.Ser524Gly)
NM_000334.4(SCN4A):c.1570_1584del (p.Ser524_Ser528del) rs757293710
NM_000334.4(SCN4A):c.1585G>A (p.Gly529Ser) rs143457794
NM_000334.4(SCN4A):c.1588A>G (p.Ile530Val) rs2509314028
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) rs2509311075
NM_000334.4(SCN4A):c.1661A>C (p.Lys554Thr)
NM_000334.4(SCN4A):c.1688C>A (p.Pro563Gln) rs371523329
NM_000334.4(SCN4A):c.1688C>T (p.Pro563Leu) rs371523329
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) rs767551056
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) rs2509310947
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) rs2509310923
NM_000334.4(SCN4A):c.1733C>T (p.Pro578Leu) rs1370498653
NM_000334.4(SCN4A):c.1757T>C (p.Ile586Thr) rs772943973
NM_000334.4(SCN4A):c.1757T>G (p.Ile586Ser) rs772943973
NM_000334.4(SCN4A):c.1759T>G (p.Cys587Gly) rs2509310864
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.17T>C (p.Leu6Pro) rs2509325890
NM_000334.4(SCN4A):c.1811A>T (p.Glu604Val) rs1909242012
NM_000334.4(SCN4A):c.1814A>C (p.His605Pro) rs2144798572
NM_000334.4(SCN4A):c.1814A>G (p.His605Arg) rs2144798572
NM_000334.4(SCN4A):c.1824C>T (p.Asn608=) rs755046466
NM_000334.4(SCN4A):c.1825G>T (p.Val609Leu) rs752056845
NM_000334.4(SCN4A):c.1832C>T (p.Thr611Ile) rs1597980105
NM_000334.4(SCN4A):c.1835T>C (p.Val612Ala) rs926617193
NM_000334.4(SCN4A):c.1836G>A (p.Val612=) rs1909241083
NM_000334.4(SCN4A):c.1843C>G (p.Leu615Val) rs763346049
NM_000334.4(SCN4A):c.1856G>A (p.Gly619Asp)
NM_000334.4(SCN4A):c.1862T>A (p.Phe621Tyr) rs2509308214
NM_000334.4(SCN4A):c.1868C>T (p.Ala623Val) rs2509308203
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) rs1404940431
NM_000334.4(SCN4A):c.1900C>G (p.Pro634Ala) rs2509308138
NM_000334.4(SCN4A):c.1903T>G (p.Tyr635Asp) rs2509308121
NM_000334.4(SCN4A):c.1922G>A (p.Gly641Asp) rs778197344
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) rs370216331
NM_000334.4(SCN4A):c.1999G>A (p.Val667Met) rs1487941051
NM_000334.4(SCN4A):c.2008_2009delinsAG (p.Ser670=) rs2509307703
NM_000334.4(SCN4A):c.2019+5A>G rs1555603359
NM_000334.4(SCN4A):c.2026G>A (p.Val676Ile) rs774271405
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) rs2509305404
NM_000334.4(SCN4A):c.2155A>G (p.Met719Val) rs2509305378
NM_000334.4(SCN4A):c.215C>T (p.Pro72Leu) rs1303471186
NM_000334.4(SCN4A):c.2170A>G (p.Lys724Glu) rs1555603150
NM_000334.4(SCN4A):c.2174G>A (p.Ser725Asn) rs755379305
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) rs1297668639
NM_000334.4(SCN4A):c.2230A>G (p.Met744Val) rs2509305264
NM_000334.4(SCN4A):c.223G>T (p.Val75Phe) rs1909649961
NM_000334.4(SCN4A):c.2278G>A (p.Gly760Arg) rs991008969
NM_000334.4(SCN4A):c.2335C>G (p.Leu779Val) rs1186398938
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>G (p.Val792Gly) rs1357236962
NM_000334.4(SCN4A):c.2377G>C (p.Val793Leu) rs1487423681
NM_000334.4(SCN4A):c.2377G>T (p.Val793Phe) rs1487423681
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) rs2509300700
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) rs1375823252
NM_000334.4(SCN4A):c.2479G>T (p.Gly827Trp) rs1028907866
NM_000334.4(SCN4A):c.2482C>A (p.Arg828Ser) rs760147196
NM_000334.4(SCN4A):c.2486T>C (p.Ile829Thr) rs766889749
NM_000334.4(SCN4A):c.2513C>A (p.Ala838Asp) rs1485947061
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) rs2509300325
NM_000334.4(SCN4A):c.256TAC[1] (p.Tyr87del)
NM_000334.4(SCN4A):c.2572C>A (p.Leu858Ile) rs746992482
NM_000334.4(SCN4A):c.2575G>C (p.Gly859Arg) rs749473147
NM_000334.4(SCN4A):c.2576G>A (p.Gly859Glu) rs886053248
NM_000334.4(SCN4A):c.2578G>A (p.Glu860Lys) rs1346024466
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.2599_2616del (p.864AGE[1]) rs768289095
NM_000334.4(SCN4A):c.2599_2616dup (p.864_866AGE[5]) rs768289095
NM_000334.4(SCN4A):c.2612G>A (p.Gly871Glu) rs1908916464
NM_000334.4(SCN4A):c.2612G>T (p.Gly871Val) rs1908916464
NM_000334.4(SCN4A):c.2623C>G (p.Pro875Ala) rs201148948
NM_000334.4(SCN4A):c.2631T>A (p.Asp877Glu) rs79893125
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) rs111858905
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) rs1164765942
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) rs768982823
NM_000334.4(SCN4A):c.2794G>T (p.Asp932Tyr) rs199656266
NM_000334.4(SCN4A):c.2795A>C (p.Asp932Ala) rs1597973465
NM_000334.4(SCN4A):c.2801A>T (p.Glu934Val) rs2509299754
NM_000334.4(SCN4A):c.2805G>A (p.Met935Ile) rs1168767843
NM_000334.4(SCN4A):c.2806C>G (p.Pro936Ala)
NM_000334.4(SCN4A):c.2825A>G (p.Asp942Gly) rs1908902761
NM_000334.4(SCN4A):c.2854-3C>T rs1334597538
NM_000334.4(SCN4A):c.2854-9C>T rs529927463
NM_000334.4(SCN4A):c.2863C>A (p.Gln955Lys) rs1185395150
NM_000334.4(SCN4A):c.2869C>T (p.Leu957Phe) rs2509297287
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.2930C>T (p.Pro977Leu) rs2509297098
NM_000334.4(SCN4A):c.2932G>C (p.Glu978Gln) rs1555601999
NM_000334.4(SCN4A):c.2944G>A (p.Glu982Lys) rs1555601993
NM_000334.4(SCN4A):c.2953C>T (p.Pro985Ser) rs1322343855
NM_000334.4(SCN4A):c.2959G>A (p.Gly987Arg) rs1908834254
NM_000334.4(SCN4A):c.2962G>A (p.Glu988Lys) rs1370194200
NM_000334.4(SCN4A):c.2968C>A (p.Pro990Thr) rs746636914
NM_000334.4(SCN4A):c.2974G>A (p.Glu992Lys) rs1398571695
NM_000334.4(SCN4A):c.2989G>A (p.Ala997Thr) rs1454058216
NM_000334.4(SCN4A):c.2992T>C (p.Cys998Arg) rs1555601897
NM_000334.4(SCN4A):c.2995G>T (p.Val999Leu) rs377277110
NM_000334.4(SCN4A):c.2996T>A (p.Val999Glu) rs745558206
NM_000334.4(SCN4A):c.2998C>G (p.Gln1000Glu) rs1908810990
NM_000334.4(SCN4A):c.3006G>C (p.Trp1002Cys)
NM_000334.4(SCN4A):c.3010T>A (p.Cys1004Ser) rs2509295956
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) rs578232775
NM_000334.4(SCN4A):c.305T>C (p.Ile102Thr) rs1909642770
NM_000334.4(SCN4A):c.3062G>A (p.Arg1021His) rs770497876
NM_000334.4(SCN4A):c.3064A>G (p.Arg1022Gly)
NM_000334.4(SCN4A):c.3089A>G (p.His1030Arg) rs2509295763
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) rs1258580608
NM_000334.4(SCN4A):c.310C>T (p.Arg104Cys)
NM_000334.4(SCN4A):c.3118A>G (p.Met1040Val) rs1266898562
NM_000334.4(SCN4A):c.3144+3A>G rs2509295638
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.3159C>G (p.Ile1053Met) rs1302161849
NM_000334.4(SCN4A):c.315C>A (p.Phe105Leu) rs1382911738
NM_000334.4(SCN4A):c.3160T>C (p.Tyr1054His)
NM_000334.4(SCN4A):c.3164T>A (p.Ile1055Asn) rs893049769
NM_000334.4(SCN4A):c.3184C>T (p.Arg1062Cys) rs1908782432
NM_000334.4(SCN4A):c.3185G>C (p.Arg1062Pro) rs769704334
NM_000334.4(SCN4A):c.3188C>T (p.Thr1063Ile) rs1333298605
NM_000334.4(SCN4A):c.3210G>A (p.Lys1070=) rs749973882
NM_000334.4(SCN4A):c.3218C>A (p.Thr1073Asn) rs756973068
NM_000334.4(SCN4A):c.3229A>G (p.Ile1077Val) rs1210921363
NM_000334.4(SCN4A):c.3233T>C (p.Met1078Thr) rs763646335
NM_000334.4(SCN4A):c.3240G>T (p.Met1080Ile) rs2144782622
NM_000334.4(SCN4A):c.3249A>G (p.Lys1083=) rs1597971116
NM_000334.4(SCN4A):c.3262G>A (p.Gly1088Ser) rs1282585219
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) rs756884948
NM_000334.4(SCN4A):c.3322T>A (p.Ser1108Thr) rs1908752324
NM_000334.4(SCN4A):c.3325A>C (p.Ile1109Leu) rs1336954197
NM_000334.4(SCN4A):c.3328A>G (p.Ile1110Val) rs1285493044
NM_000334.4(SCN4A):c.3340G>T (p.Ala1114Ser) rs1351210489
NM_000334.4(SCN4A):c.3359C>G (p.Ser1120Trp)
NM_000334.4(SCN4A):c.3368G>A (p.Gly1123Glu) rs2509293232
NM_000334.4(SCN4A):c.336C>G (p.Tyr112Ter) rs959073798
NM_000334.4(SCN4A):c.3377A>G (p.Lys1126Arg) rs1157662598
NM_000334.4(SCN4A):c.3386G>C (p.Arg1129Pro) rs527236149
NM_000334.4(SCN4A):c.3430G>A (p.Glu1144Lys) rs751443439
NM_000334.4(SCN4A):c.3436A>G (p.Met1146Val) rs758465889
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) rs2509291043
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) rs2509290957
NM_000334.4(SCN4A):c.3532G>A (p.Gly1178Ser)
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.358G>A (p.Val120Ile) rs2509325140
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) rs1352041698
NM_000334.4(SCN4A):c.3633C>A (p.Ser1211Arg)
NM_000334.4(SCN4A):c.3638T>G (p.Met1213Arg) rs759305208
NM_000334.4(SCN4A):c.3649C>A (p.Gln1217Lys) rs770493707
NM_000334.4(SCN4A):c.3652G>T (p.Val1218Phe)
NM_000334.4(SCN4A):c.365G>T (p.Arg122Leu) rs374529559
NM_000334.4(SCN4A):c.3679T>C (p.Tyr1227His) rs1908682760
NM_000334.4(SCN4A):c.3686A>G (p.Asn1229Ser) rs900270228
NM_000334.4(SCN4A):c.3720+6T>C rs1446953942
NM_000334.4(SCN4A):c.3720G>A (p.Val1240=) rs1567818014
NM_000334.4(SCN4A):c.3722C>G (p.Ala1241Gly) rs2509289797
NM_000334.4(SCN4A):c.3740T>C (p.Met1247Thr)
NM_000334.4(SCN4A):c.3748A>G (p.Met1250Val) rs2509289746
NM_000334.4(SCN4A):c.3749T>C (p.Met1250Thr) rs1488191937
NM_000334.4(SCN4A):c.3754G>A (p.Ala1252Thr) rs2509289735
NM_000334.4(SCN4A):c.3772G>A (p.Glu1258Lys) rs886053246
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) rs2509289227
NM_000334.4(SCN4A):c.379G>A (p.Val127Met) rs369830835
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) rs2509289127
NM_000334.4(SCN4A):c.3872T>C (p.Ile1291Thr) rs755586645
NM_000334.4(SCN4A):c.387C>G (p.Ile129Met) rs377620351
NM_000334.4(SCN4A):c.3890A>G (p.Asn1297Ser) rs2509289090
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) rs2509325072
NM_000334.4(SCN4A):c.3904A>G (p.Lys1302Glu) rs1555601285
NM_000334.4(SCN4A):c.3906G>C (p.Lys1302Asn) rs267604990
NM_000334.4(SCN4A):c.3908A>G (p.Lys1303Arg) rs2509289049
NM_000334.4(SCN4A):c.3910_3912del rs1326940129
NM_000334.4(SCN4A):c.3912+10A>C rs1482444015
NM_000334.4(SCN4A):c.3912+3G>A rs1280884843
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) rs2509287989
NM_000334.4(SCN4A):c.3926A>G (p.Asp1309Gly) rs1180189206
NM_000334.4(SCN4A):c.392C>A (p.Ala131Glu) rs2509325059
NM_000334.4(SCN4A):c.3955_3956delinsAT (p.Tyr1319Ile) rs1908624669
NM_000334.4(SCN4A):c.3957_3959del (p.Tyr1320del) rs753334243
NM_000334.4(SCN4A):c.3958T>C (p.Tyr1320His)
NM_000334.4(SCN4A):c.395T>G (p.Leu132Arg) rs1909634734
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.3987G>C (p.Lys1329Asn) rs2509287910
NM_000334.4(SCN4A):c.4017+5A>G rs2509287868
NM_000334.4(SCN4A):c.4044C>A (p.Asp1348Glu) rs888315300
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) rs2509287012
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.4117G>C (p.Glu1373Gln) rs1555601036
NM_000334.4(SCN4A):c.4127A>C (p.Asn1376Thr) rs112473871
NM_000334.4(SCN4A):c.4128C>A (p.Asn1376Lys) rs1567817005
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) rs866459001
NM_000334.4(SCN4A):c.4175T>C (p.Phe1392Ser) rs1908590856
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) rs1555601021
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.4229A>G (p.Tyr1410Cys) rs2144776160
NM_000334.4(SCN4A):c.4234T>C (p.Phe1412Leu) rs2509286695
NM_000334.4(SCN4A):c.4258G>A (p.Asp1420Asn) rs1908587972
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.428C>A (p.Thr143Asn) rs1909633732
NM_000334.4(SCN4A):c.4294G>C (p.Ala1432Pro) rs1383238269
NM_000334.4(SCN4A):c.4297C>T (p.Leu1433Phe) rs2509285435
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.4352G>A (p.Arg1451His) rs748517635
NM_000334.4(SCN4A):c.4361G>A (p.Arg1454Gln) rs374074988
NM_000334.4(SCN4A):c.4367G>T (p.Gly1456Val) rs121908554
NM_000334.4(SCN4A):c.4369C>T (p.Arg1457Cys) rs1473372899
NM_000334.4(SCN4A):c.4382T>C (p.Leu1461Pro) rs2144774799
NM_000334.4(SCN4A):c.4387C>T (p.Arg1463Cys) rs774453167
NM_000334.4(SCN4A):c.4390G>C (p.Gly1464Arg) rs150423825
NM_000334.4(SCN4A):c.4390G>T (p.Gly1464Trp) rs150423825
NM_000334.4(SCN4A):c.4396A>G (p.Lys1466Glu) rs1387315746
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) rs2509285170
NM_000334.4(SCN4A):c.4426A>C (p.Met1476Leu)
NM_000334.4(SCN4A):c.4456G>A (p.Gly1486Ser) rs2509285089
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) rs1237627376
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.4507A>G (p.Asn1503Asp) rs2509284931
NM_000334.4(SCN4A):c.4522A>G (p.Lys1508Glu) rs1555600752
NM_000334.4(SCN4A):c.4541A>C (p.Asp1514Ala) rs2509284859
NM_000334.4(SCN4A):c.4544A>G (p.Asp1515Gly) rs2509284852
NM_000334.4(SCN4A):c.4555T>A (p.Phe1519Ile) rs2509284825
NM_000334.4(SCN4A):c.4557C>A (p.Phe1519Leu) rs931435454
NM_000334.4(SCN4A):c.4564T>G (p.Phe1522Val) rs1908540361
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) rs2509284699
NM_000334.4(SCN4A):c.4615G>C (p.Asp1539His)
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) rs2509284637
NM_000334.4(SCN4A):c.4648C>A (p.Pro1550Thr)
NM_000334.4(SCN4A):c.4660G>T (p.Asp1554Tyr) rs2509284607
NM_000334.4(SCN4A):c.4678C>A (p.Pro1560Thr) rs757538531
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.472A>G (p.Lys158Glu) rs1555604989
NM_000334.4(SCN4A):c.4730T>A (p.Phe1577Tyr)
NM_000334.4(SCN4A):c.4754C>T (p.Ser1585Phe) rs1414517272
NM_000334.4(SCN4A):c.4759C>T (p.Leu1587Phe) rs1567816227
NM_000334.4(SCN4A):c.4759_4761del (p.Leu1587del) rs2509284341
NM_000334.4(SCN4A):c.4781T>A (p.Ile1594Asn) rs2509284282
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.482+3A>G rs2509324652
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) rs376689238
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 rs746724521
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.4915C>T (p.Arg1639Cys) rs776231847
NM_000334.4(SCN4A):c.4930G>A (p.Val1644Met) rs775486265
NM_000334.4(SCN4A):c.4945G>A (p.Glu1649Lys) rs1555600645
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.5008C>T (p.Pro1670Ser)
NM_000334.4(SCN4A):c.5024A>G (p.His1675Arg) rs2509283651
NM_000334.4(SCN4A):c.5025C>A (p.His1675Gln)
NM_000334.4(SCN4A):c.5027G>C (p.Cys1676Ser) rs2509283650
NM_000334.4(SCN4A):c.5036T>C (p.Ile1679Thr) rs2144773647
NM_000334.4(SCN4A):c.5048T>A (p.Leu1683Gln) rs2509283607
NM_000334.4(SCN4A):c.5051C>T (p.Thr1684Ile) rs541964442
NM_000334.4(SCN4A):c.506C>A (p.Thr169Asn) rs1405112136
NM_000334.4(SCN4A):c.5075G>C (p.Gly1692Ala) rs754320381
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) rs2509283472
NM_000334.4(SCN4A):c.5146G>A (p.Glu1716Lys)
NM_000334.4(SCN4A):c.514T>G (p.Ser172Ala) rs1440117823
NM_000334.4(SCN4A):c.5154C>G (p.Ile1718Met) rs2144773462
NM_000334.4(SCN4A):c.5156C>G (p.Thr1719Ser)
NM_000334.4(SCN4A):c.5221C>A (p.His1741Asn) rs759656708
NM_000334.4(SCN4A):c.5248G>A (p.Ala1750Thr) rs1908507507
NM_000334.4(SCN4A):c.5254T>C (p.Tyr1752His) rs2509283069
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) rs373278632
NM_000334.4(SCN4A):c.527T>C (p.Ile176Thr) rs1909617747
NM_000334.4(SCN4A):c.5291A>G (p.Asp1764Gly) rs1567815771
NM_000334.4(SCN4A):c.5294C>A (p.Ala1765Asp) rs748434431
NM_000334.4(SCN4A):c.5294C>G (p.Ala1765Gly) rs748434431
NM_000334.4(SCN4A):c.5308G>A (p.Gly1770Arg) rs1908503761
NM_000334.4(SCN4A):c.532G>A (p.Ala178Thr) rs1293103875
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) rs751841516
NM_000334.4(SCN4A):c.5372G>T (p.Ser1791Ile) rs1908500124
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.5398G>A (p.Asp1800Asn) rs769014245
NM_000334.4(SCN4A):c.5409dup (p.Thr1804fs) rs1567815634
NM_000334.4(SCN4A):c.5413A>G (p.Met1805Val) rs1187323335
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) rs1372284167
NM_000334.4(SCN4A):c.5438C>A (p.Ser1813Ter) rs2144772835
NM_000334.4(SCN4A):c.5451G>A (p.Trp1817Ter) rs1555600494
NM_000334.4(SCN4A):c.5477_5478delinsTG (p.Thr1826Met) rs1567815577
NM_000334.4(SCN4A):c.5482C>A (p.Arg1828Ser)
NM_000334.4(SCN4A):c.548T>G (p.Val183Gly) rs1252451675
NM_000334.4(SCN4A):c.5498A>T (p.Glu1833Val) rs2144772729
NM_000334.4(SCN4A):c.554A>T (p.Asp185Val) rs1597987427
NM_000334.4(SCN4A):c.55C>T (p.Pro19Ser) rs772628295
NM_000334.4(SCN4A):c.575C>G (p.Pro192Arg) rs1909615922
NM_000334.4(SCN4A):c.596G>T (p.Ser199Ile)
NM_000334.4(SCN4A):c.598G>A (p.Val200Ile) rs2144813782
NM_000334.4(SCN4A):c.604A>G (p.Met202Val) rs533296078
NM_000334.4(SCN4A):c.605T>C (p.Met202Thr) rs777326524
NM_000334.4(SCN4A):c.605T>G (p.Met202Arg) rs777326524
NM_000334.4(SCN4A):c.606G>T (p.Met202Ile) rs769107760
NM_000334.4(SCN4A):c.611+3_611+7delinsAACC rs2509323963
NM_000334.4(SCN4A):c.619A>G (p.Thr207Ala) rs1567829142
NM_000334.4(SCN4A):c.64C>G (p.Arg22Gly) rs865873054
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 rs2509323262
NM_000334.4(SCN4A):c.704-6G>A rs368225907
NM_000334.4(SCN4A):c.713C>A (p.Thr238Lys) rs201661188
NM_000334.4(SCN4A):c.724G>T (p.Ala242Ser) rs1459693919
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.739G>A (p.Val247Met) rs755321637
NM_000334.4(SCN4A):c.748C>A (p.Leu250Met) rs2509320827
NM_000334.4(SCN4A):c.791T>C (p.Phe264Ser) rs2509320737
NM_000334.4(SCN4A):c.794C>A (p.Ala265Glu) rs749502925
NM_000334.4(SCN4A):c.808C>G (p.Gln270Glu)
NM_000334.4(SCN4A):c.811C>T (p.Leu271Phe) rs2509320697
NM_000334.4(SCN4A):c.830G>A (p.Arg277Lys) rs1340676381
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) rs753582543
NM_000334.4(SCN4A):c.909T>A (p.Asn303Lys) rs1366904045
NM_000334.4(SCN4A):c.90G>T (p.Gln30His) rs945475945
NM_000334.4(SCN4A):c.912_929del (p.298_303DTWYGN[1]) rs1597985318
NM_000334.4(SCN4A):c.916T>C (p.Trp306Arg) rs377602871
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) rs112142736
NM_000334.4(SCN4A):c.938A>G (p.Tyr313Cys) rs1428958459
NM_000334.4(SCN4A):c.940G>A (p.Gly314Ser) rs575390627
NM_000334.4(SCN4A):c.954G>T (p.Trp318Cys) rs779130822
NM_000334.4(SCN4A):c.956A>G (p.Tyr319Cys) rs757691952
NM_000334.4(SCN4A):c.95C>A (p.Ala32Glu) rs765525226
NM_000334.4(SCN4A):c.95C>T (p.Ala32Val) rs765525226
NM_000334.4(SCN4A):c.985A>G (p.Ser329Gly) rs2509320229

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