ClinVar Miner

List of variants in gene combination GH-LCR, SCN4A reported as uncertain significance for familial periodic paralysis

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 595
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HGVS dbSNP gnomAD frequency
NM_000334.4(SCN4A):c.*552A>G rs533628539 0.00124
NM_000334.4(SCN4A):c.*64G>A rs753971558 0.00080
NM_000334.4(SCN4A):c.4508A>G (p.Asn1503Ser) rs114900922 0.00070
NM_000334.4(SCN4A):c.*2085C>G rs756262968 0.00042
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.4048G>A (p.Val1350Met) rs200274258 0.00026
NM_000334.4(SCN4A):c.*755G>A rs886053243 0.00025
NM_000334.4(SCN4A):c.*873G>C rs540759411 0.00024
NM_000334.4(SCN4A):c.5366C>T (p.Ser1789Leu) rs201414160 0.00022
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_000334.4(SCN4A):c.4519G>A (p.Val1507Ile) rs140517911 0.00016
NM_000334.4(SCN4A):c.4891G>A (p.Ala1631Thr) rs201115695 0.00014
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_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.*1108C>G rs773016576 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_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.5415G>A (p.Met1805Ile) rs368984178 0.00010
NM_000334.4(SCN4A):c.*630T>C rs779847568 0.00009
NM_000334.4(SCN4A):c.2220G>A (p.Pro740=) rs368278422 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.4386C>G (p.Ile1462Met) rs763827415 0.00008
NM_000334.4(SCN4A):c.*1313G>A rs761821168 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_000334.4(SCN4A):c.*1057C>T rs886053242 0.00006
NM_000334.4(SCN4A):c.*2211C>T rs886053237 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.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.5218C>T (p.Arg1740Trp) rs373804267 0.00006
NM_000334.4(SCN4A):c.5495A>G (p.Lys1832Arg) rs778802285 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.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.4711C>T (p.Pro1571Ser) rs772552529 0.00005
NM_000334.4(SCN4A):c.*1172G>A rs540304010 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.*394A>C rs886053244 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.3386G>A (p.Arg1129Gln) rs527236149 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.4201G>A (p.Val1401Met) rs572380012 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.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.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.2861C>T (p.Pro954Leu) rs201367621 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.3004T>C (p.Trp1002Arg) rs544082594 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.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.4949C>T (p.Pro1650Leu) rs774183791 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.*1218G>A rs908902727 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.2280G>T (p.Gly760=) rs753779301 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.3058C>G (p.Leu1020Val) rs371779795 0.00001
NM_000334.4(SCN4A):c.3061C>T (p.Arg1021Cys) rs774176490 0.00001
NM_000334.4(SCN4A):c.3080T>C (p.Ile1027Thr) rs772835617 0.00001
NM_000334.4(SCN4A):c.3145-5C>A rs750109872 0.00001
NM_000334.4(SCN4A):c.3181A>G (p.Ile1061Val) rs773489142 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.3595G>A (p.Asp1199Asn) rs780268341 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.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.4827C>T (p.Ser1609=) rs376689238 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.4915C>G (p.Arg1639Gly) rs776231847 0.00001
NM_000334.4(SCN4A):c.4937C>A (p.Thr1646Asn) rs1345007864 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.5148G>A (p.Glu1716=) rs1244264430 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.5285G>A (p.Gly1762Glu) rs1328990008 0.00001
NM_000334.4(SCN4A):c.5306A>C (p.Glu1769Ala) rs768251194 0.00001
NM_000334.4(SCN4A):c.5310G>T (p.Gly1770=) rs1349039203 0.00001
NM_000334.4(SCN4A):c.5347G>A (p.Glu1783Lys) rs377673196 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.5457C>T (p.Pro1819=) rs761023866 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.*1205C>G rs886053241
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.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.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.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.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.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.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.2391C>G (p.Phe797Leu) rs1253601722
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.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.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.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>A (p.Gly871Glu) rs1908916464
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.2645C>T (p.Pro882Leu)
NM_000334.4(SCN4A):c.2647C>T (p.Pro883Ser) rs1908913430
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.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.2769G>A (p.Gln923=)
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.2900C>T (p.Thr967Ile) rs1908838389
NM_000334.4(SCN4A):c.2903C>A (p.Ala968Asp) rs757322725
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.2995G>T (p.Val999Leu)
NM_000334.4(SCN4A):c.2996T>A (p.Val999Glu)
NM_000334.4(SCN4A):c.2998C>G (p.Gln1000Glu)
NM_000334.4(SCN4A):c.3010T>A (p.Cys1004Ser)
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.3062G>A (p.Arg1021His) rs770497876
NM_000334.4(SCN4A):c.3065G>A (p.Arg1022Lys) rs1285110954
NM_000334.4(SCN4A):c.3089A>G (p.His1030Arg)
NM_000334.4(SCN4A):c.3109A>T (p.Ile1037Phe)
NM_000334.4(SCN4A):c.3144+3A>G
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.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.3210G>A (p.Lys1070=) rs749973882
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.3249A>G (p.Lys1083=) rs1597971116
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.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>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.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.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.3558C>A (p.Phe1186Leu) rs147610324
NM_000334.4(SCN4A):c.3562T>C (p.Tyr1188His)
NM_000334.4(SCN4A):c.3598A>G (p.Ile1200Val)
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.3638T>G (p.Met1213Arg)
NM_000334.4(SCN4A):c.3649C>A (p.Gln1217Lys)
NM_000334.4(SCN4A):c.3656G>A (p.Arg1219His)
NM_000334.4(SCN4A):c.3679T>C (p.Tyr1227His) rs1908682760
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.3696G>A (p.Leu1232=) rs2144779293
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.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.3772G>A (p.Glu1258Lys) rs886053246
NM_000334.4(SCN4A):c.3788C>T (p.Pro1263Leu) rs767272792
NM_000334.4(SCN4A):c.3799G>A (p.Val1267Met)
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.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.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.3955T>C (p.Tyr1319His)
NM_000334.4(SCN4A):c.3955_3956delinsAT (p.Tyr1319Ile) rs1908624669
NM_000334.4(SCN4A):c.3957_3959del (p.Tyr1320del)
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.4065C>A (p.Phe1355Leu) rs578214396
NM_000334.4(SCN4A):c.4069A>C (p.Ile1357Leu) rs1555601045
NM_000334.4(SCN4A):c.4077C>G (p.Ile1359Met) rs1908595411
NM_000334.4(SCN4A):c.4080G>T (p.Met1360Ile) rs774789710
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.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.4175T>C (p.Phe1392Ser) rs1908590856
NM_000334.4(SCN4A):c.4183A>G (p.Ile1395Val) rs1908590330
NM_000334.4(SCN4A):c.4198T>A (p.Cys1400Ser) rs2144776208
NM_000334.4(SCN4A):c.4207A>C (p.Lys1403Gln)
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.4243G>A (p.Gly1415Ser)
NM_000334.4(SCN4A):c.4258G>A (p.Asp1420Asn) rs1908587972
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.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.4352G>A (p.Arg1451His) rs748517635
NM_000334.4(SCN4A):c.4352G>T (p.Arg1451Leu)
NM_000334.4(SCN4A):c.4360C>A (p.Arg1454=) rs879253789
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.4415T>C (p.Leu1472Pro) rs1057520169
NM_000334.4(SCN4A):c.4424T>C (p.Leu1475Pro)
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.4477A>G (p.Met1493Val) rs1280474636
NM_000334.4(SCN4A):c.4485C>G (p.Ile1495Met)
NM_000334.4(SCN4A):c.4490C>A (p.Ser1497Tyr) rs2144774561
NM_000334.4(SCN4A):c.4501A>G (p.Met1501Val)
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.4618G>A (p.Gly1540Arg)
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.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.4744A>G (p.Ile1582Val)
NM_000334.4(SCN4A):c.4754C>T (p.Ser1585Phe)
NM_000334.4(SCN4A):c.4759C>T (p.Leu1587Phe) rs1567816227
NM_000334.4(SCN4A):c.4759_4761del (p.Leu1587del)
NM_000334.4(SCN4A):c.4765G>T (p.Val1589Leu)
NM_000334.4(SCN4A):c.4781T>A (p.Ile1594Asn)
NM_000334.4(SCN4A):c.4819G>A (p.Glu1607Lys)
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.4844A>G (p.Asp1615Gly) rs2144773991
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.4955G>A (p.Arg1652Lys) rs1314887157
NM_000334.4(SCN4A):c.4993G>C (p.Asp1665His) rs1567816038
NM_000334.4(SCN4A):c.5024A>G (p.His1675Arg)
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.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.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.5154C>G (p.Ile1718Met) rs2144773462
NM_000334.4(SCN4A):c.5171G>A (p.Arg1724Lys) rs539487509
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.5215C>T (p.Arg1739Cys)
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.5294C>G (p.Ala1765Gly) rs748434431
NM_000334.4(SCN4A):c.5308G>A (p.Gly1770Arg)
NM_000334.4(SCN4A):c.5334G>T (p.Lys1778Asn) rs779474162
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.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.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.5498A>T (p.Glu1833Val)

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