ClinVar Miner

List of variants in gene SCN4A studied for Hyperkalemic periodic paralysis

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Gene type:
ClinVar version:
Total variants: 595
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HGVS dbSNP gnomAD frequency
NM_000334.4(SCN4A):c.1570A>G (p.Ser524Gly) rs6504191 0.91477
NM_000334.4(SCN4A):c.1845+12C>G rs776175702 0.15279
NM_000334.4(SCN4A):c.864C>T (p.Asn288=) rs7218917 0.06188
NM_000334.4(SCN4A):c.366C>T (p.Arg122=) rs41280108 0.04121
NM_000334.4(SCN4A):c.1167T>C (p.Tyr389=) rs16947296 0.03818
NM_000334.4(SCN4A):c.726C>T (p.Ala242=) rs73326368 0.01791
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met) rs80338952 0.01562
NM_000334.4(SCN4A):c.489C>G (p.Thr163=) rs146590697 0.00848
NM_000334.4(SCN4A):c.1606+20G>A rs73326363 0.00787
NM_000334.4(SCN4A):c.241G>C (p.Glu81Gln) rs111926172 0.00509
NM_000334.4(SCN4A):c.92G>T (p.Arg31Leu) rs112142736 0.00506
NM_000334.4(SCN4A):c.404T>C (p.Met135Thr) rs115304957 0.00467
NM_000334.4(SCN4A):c.1796A>G (p.His599Arg) rs187401185 0.00343
NM_000334.4(SCN4A):c.154C>T (p.Arg52Trp) rs201379704 0.00258
NM_000334.4(SCN4A):c.355G>A (p.Val119Ile) rs41280110 0.00232
NM_000334.4(SCN4A):c.612-18C>A rs377510393 0.00232
NM_000334.4(SCN4A):c.1100+7G>A rs200770684 0.00212
NM_000334.4(SCN4A):c.1453-4A>G rs111818485 0.00209
NM_000334.4(SCN4A):c.248T>C (p.Leu83Pro) rs147352060 0.00141
NM_000334.4(SCN4A):c.1011T>C (p.Asp337=) rs372791798 0.00112
NM_000334.4(SCN4A):c.318C>T (p.Ser106=) rs138670794 0.00089
NM_000334.4(SCN4A):c.1576G>A (p.Gly526Arg) rs181292216 0.00069
NM_000334.4(SCN4A):c.235C>T (p.Pro79Ser) rs376505442 0.00062
NM_000334.4(SCN4A):c.1462G>A (p.Ala488Thr) rs185941768 0.00059
NM_000334.4(SCN4A):c.952T>C (p.Trp318Arg) rs199676994 0.00059
NM_000334.4(SCN4A):c.999C>T (p.Asn333=) rs149726115 0.00056
NM_000334.4(SCN4A):c.52C>A (p.Arg18Ser) rs78592515 0.00054
NM_000334.4(SCN4A):c.1520A>G (p.Asn507Ser) rs201793080 0.00053
NM_000334.4(SCN4A):c.8G>C (p.Arg3Thr) rs764134362 0.00046
NM_000334.4(SCN4A):c.951A>G (p.Ser317=) rs185246154 0.00044
NM_000334.4(SCN4A):c.403A>C (p.Met135Leu) rs148028364 0.00042
NM_000334.4(SCN4A):c.199A>G (p.Ile67Val) rs200834218 0.00041
NM_000334.4(SCN4A):c.1607-17T>C rs202103551 0.00032
NM_000334.4(SCN4A):c.218C>T (p.Pro73Leu) rs75086141 0.00029
NM_000334.4(SCN4A):c.1845+7A>C rs141021600 0.00028
NM_000334.4(SCN4A):c.1926G>T (p.Trp642Cys) rs781412058 0.00028
NM_000334.4(SCN4A):c.1623C>G (p.His541Gln) rs538390338 0.00027
NM_000334.4(SCN4A):c.436G>A (p.Val146Ile) rs367988986 0.00027
NM_000334.4(SCN4A):c.1242+15A>C rs750532418 0.00026
NM_000334.4(SCN4A):c.1653C>T (p.Cys551=) rs201199086 0.00026
NM_000334.4(SCN4A):c.845G>A (p.Arg282His) rs200615763 0.00025
NM_000334.4(SCN4A):c.1101-16C>T rs376459843 0.00024
NM_000334.4(SCN4A):c.1430A>G (p.Lys477Arg) rs182691342 0.00021
NM_000334.4(SCN4A):c.1281C>T (p.Phe427=) rs369445518 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_000334.4(SCN4A):c.963C>T (p.Asn321=) rs748863960 0.00016
NM_000334.4(SCN4A):c.552C>T (p.Asp184=) rs370730079 0.00014
NM_000334.4(SCN4A):c.1018G>A (p.Ala340Thr) rs147936148 0.00011
NM_000334.4(SCN4A):c.1288A>G (p.Ile430Val) rs149907018 0.00011
NM_000334.4(SCN4A):c.145G>A (p.Glu49Lys) rs368011562 0.00011
NM_000334.4(SCN4A):c.-33C>T rs575313119 0.00010
NM_000334.4(SCN4A):c.1100+15G>A rs533321924 0.00010
NM_000334.4(SCN4A):c.1607-20T>C rs374159735 0.00010
NM_000334.4(SCN4A):c.1120G>A (p.Glu374Lys) rs766463226 0.00009
NM_000334.4(SCN4A):c.1935C>T (p.Phe645=) rs181494727 0.00009
NM_000334.4(SCN4A):c.841G>A (p.Val281Met) rs370289618 0.00009
NM_000334.4(SCN4A):c.1845+12del rs756462178 0.00008
NM_000334.4(SCN4A):c.1139G>A (p.Arg380Gln) rs374446143 0.00007
NM_000334.4(SCN4A):c.238C>T (p.Leu80=) rs768080216 0.00007
NM_000334.4(SCN4A):c.483-8C>T rs566047339 0.00007
NM_000334.4(SCN4A):c.-4G>A rs565414568 0.00006
NM_000334.4(SCN4A):c.1173C>T (p.Thr391=) rs376062556 0.00006
NM_000334.4(SCN4A):c.1354G>A (p.Glu452Lys) rs372631097 0.00006
NM_000334.4(SCN4A):c.1902C>T (p.Pro634=) rs368811155 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.45G>A (p.Glu15=) rs763166498 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.1461C>T (p.Ala487=) rs541858248 0.00005
NM_000334.4(SCN4A):c.1710C>T (p.Ile570=) rs760067411 0.00005
NM_000334.4(SCN4A):c.1984G>A (p.Val662Ile) rs766975288 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.459G>A (p.Pro153=) rs201227173 0.00005
NM_000334.4(SCN4A):c.704-8G>A rs762393514 0.00005
NM_000334.4(SCN4A):c.-74G>A rs546675124 0.00004
NM_000334.4(SCN4A):c.1017C>T (p.Asp339=) rs375655445 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.1221T>C (p.Tyr407=) rs1450986503 0.00004
NM_000334.4(SCN4A):c.1353C>T (p.Ala451=) rs779308374 0.00004
NM_000334.4(SCN4A):c.1413G>A (p.Met471Ile) rs527384137 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.204C>T (p.Tyr68=) rs80266947 0.00004
NM_000334.4(SCN4A):c.205G>A (p.Gly69Arg) rs886053249 0.00004
NM_000334.4(SCN4A):c.574C>T (p.Pro192Ser) rs751749964 0.00004
NM_000334.4(SCN4A):c.611+9G>A rs541455106 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.738G>A (p.Ser246=) rs753221621 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.903C>T (p.Tyr301=) rs201411232 0.00004
NM_000334.4(SCN4A):c.939C>T (p.Tyr313=) rs761930114 0.00004
NM_000334.4(SCN4A):c.1425C>G (p.Phe475Leu) rs371725584 0.00003
NM_000334.4(SCN4A):c.1539G>A (p.Ser513=) rs758833537 0.00003
NM_000334.4(SCN4A):c.1593C>T (p.Ser531=) rs139988178 0.00003
NM_000334.4(SCN4A):c.1606G>A (p.Glu536Lys) rs746256985 0.00003
NM_000334.4(SCN4A):c.1947C>T (p.Ile649=) rs564134251 0.00003
NM_000334.4(SCN4A):c.1995G>T (p.Leu665=) rs189925781 0.00003
NM_000334.4(SCN4A):c.237C>T (p.Pro79=) rs374261960 0.00003
NM_000334.4(SCN4A):c.354C>T (p.Ser118=) rs753453769 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.855G>A (p.Pro285=) rs763725074 0.00003
NM_000334.4(SCN4A):c.878C>T (p.Thr293Met) rs747481717 0.00003
NM_000334.4(SCN4A):c.879G>A (p.Thr293=) rs780568994 0.00003
NM_000334.4(SCN4A):c.964G>A (p.Asp322Asn) rs777516201 0.00003
NM_000334.4(SCN4A):c.96G>A (p.Ala32=) rs575515777 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.1036+20C>T rs755836242 0.00002
NM_000334.4(SCN4A):c.1064A>G (p.Asn355Ser) rs374835121 0.00002
NM_000334.4(SCN4A):c.1293C>T (p.Ile431=) rs753010557 0.00002
NM_000334.4(SCN4A):c.1332C>T (p.Ala444=) rs761874460 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.150C>T (p.Pro50=) rs374359880 0.00002
NM_000334.4(SCN4A):c.164G>A (p.Arg55Gln) rs376523210 0.00002
NM_000334.4(SCN4A):c.1800C>T (p.Tyr600=) rs778746718 0.00002
NM_000334.4(SCN4A):c.181G>A (p.Gly61Ser) rs759771825 0.00002
NM_000334.4(SCN4A):c.1845+11G>T rs761523703 0.00002
NM_000334.4(SCN4A):c.1983C>T (p.Asn661=) rs370216331 0.00002
NM_000334.4(SCN4A):c.229G>A (p.Gly77Ser) rs369547459 0.00002
NM_000334.4(SCN4A):c.419C>T (p.Thr140Ile) rs967530693 0.00002
NM_000334.4(SCN4A):c.483-7C>T rs780933125 0.00002
NM_000334.4(SCN4A):c.53G>A (p.Arg18His) rs557359808 0.00002
NM_000334.4(SCN4A):c.608T>A (p.Met203Lys) rs933258893 0.00002
NM_000334.4(SCN4A):c.703+9G>A rs374667853 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_000334.4(SCN4A):c.897G>A (p.Thr299=) rs553636410 0.00002
NM_000334.4(SCN4A):c.969G>A (p.Thr323=) rs1429424012 0.00002
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.1243-5C>A rs374257387 0.00001
NM_000334.4(SCN4A):c.1249C>T (p.Arg417Ter) rs943370469 0.00001
NM_000334.4(SCN4A):c.1275C>A (p.Ile425=) rs1392358857 0.00001
NM_000334.4(SCN4A):c.1299G>A (p.Leu433=) rs759176062 0.00001
NM_000334.4(SCN4A):c.1333G>C (p.Val445Leu) rs121908552 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.1527C>T (p.Ser509=) rs577453030 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.1560G>A (p.Pro520=) rs373819078 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.1596C>T (p.Asp532=) rs911873120 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.1606+8C>A rs575279008 0.00001
NM_000334.4(SCN4A):c.1607-9C>G rs1388937963 0.00001
NM_000334.4(SCN4A):c.1629G>T (p.Lys543Asn) rs1197528149 0.00001
NM_000334.4(SCN4A):c.1647C>T (p.Tyr549=) rs368996214 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.1755C>T (p.Thr585=) rs1208231013 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.1905C>T (p.Tyr635=) rs774304336 0.00001
NM_000334.4(SCN4A):c.1923T>C (p.Gly641=) rs543151915 0.00001
NM_000334.4(SCN4A):c.1975C>T (p.Leu659=) rs764575691 0.00001
NM_000334.4(SCN4A):c.2005C>T (p.Arg669Cys) rs897448432 0.00001
NM_000334.4(SCN4A):c.2006G>A (p.Arg669His) rs80338784 0.00001
NM_000334.4(SCN4A):c.2010C>T (p.Ser670=) rs763017199 0.00001
NM_000334.4(SCN4A):c.216G>A (p.Pro72=) rs768591136 0.00001
NM_000334.4(SCN4A):c.219G>A (p.Pro73=) rs779890709 0.00001
NM_000334.4(SCN4A):c.228C>T (p.Ile76=) rs1189122757 0.00001
NM_000334.4(SCN4A):c.240G>A (p.Leu80=) rs760094343 0.00001
NM_000334.4(SCN4A):c.273+19T>G rs756421900 0.00001
NM_000334.4(SCN4A):c.273+7G>A rs369039376 0.00001
NM_000334.4(SCN4A):c.282C>T (p.Ile94=) rs563602704 0.00001
NM_000334.4(SCN4A):c.291C>T (p.Asn97=) rs770919076 0.00001
NM_000334.4(SCN4A):c.307T>G (p.Phe103Val) rs554349260 0.00001
NM_000334.4(SCN4A):c.337C>T (p.Leu113=) rs553234696 0.00001
NM_000334.4(SCN4A):c.345C>T (p.Ser115=) rs1909641231 0.00001
NM_000334.4(SCN4A):c.393-1C>T rs1199378574 0.00001
NM_000334.4(SCN4A):c.393-4C>A rs958817327 0.00001
NM_000334.4(SCN4A):c.415A>T (p.Ile139Phe) rs1433506611 0.00001
NM_000334.4(SCN4A):c.458C>T (p.Pro153Leu) rs781033413 0.00001
NM_000334.4(SCN4A):c.483-20G>A rs771069029 0.00001
NM_000334.4(SCN4A):c.48C>T (p.Cys16=) rs765207978 0.00001
NM_000334.4(SCN4A):c.536G>A (p.Arg179Gln) rs777130479 0.00001
NM_000334.4(SCN4A):c.54C>T (p.Arg18=) rs775998468 0.00001
NM_000334.4(SCN4A):c.554A>C (p.Asp185Ala) rs1597987427 0.00001
NM_000334.4(SCN4A):c.584G>A (p.Trp195Ter) rs1331907655 0.00001
NM_000334.4(SCN4A):c.611+19A>G rs771766927 0.00001
NM_000334.4(SCN4A):c.612-17C>T rs1445520678 0.00001
NM_000334.4(SCN4A):c.664C>T (p.Arg222Trp) rs527236148 0.00001
NM_000334.4(SCN4A):c.665G>A (p.Arg222Gln) rs865887222 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+18G>A rs561981114 0.00001
NM_000334.4(SCN4A):c.703+6G>A rs748828476 0.00001
NM_000334.4(SCN4A):c.704-10C>T rs1909520562 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.786C>T (p.Ser262=) rs746749167 0.00001
NM_000334.4(SCN4A):c.810G>A (p.Gln270=) rs755446880 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.918G>A (p.Trp306Ter) rs759347899 0.00001
NM_000334.4(SCN4A):c.91C>T (p.Arg31Trp) rs756059775 0.00001
NC_000017.10:g.(?_62024385)_(62034898_?)del
NC_000017.10:g.(?_62034502)_(62034898_?)del
NC_000017.10:g.(?_62048502)_(62050201_?)dup
NM_000334.4(SCN4A):c.-67G>A rs191783461
NM_000334.4(SCN4A):c.1008T>C (p.Phe336=) rs2144809793
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.1023C>T (p.Tyr341=) rs2144809750
NM_000334.4(SCN4A):c.1032T>C (p.Asp344=)
NM_000334.4(SCN4A):c.1036+11G>A
NM_000334.4(SCN4A):c.1036+12_1036+23del
NM_000334.4(SCN4A):c.1036+13A>G
NM_000334.4(SCN4A):c.1036+16G>A
NM_000334.4(SCN4A):c.1036+8T>C
NM_000334.4(SCN4A):c.1037-17G>A
NM_000334.4(SCN4A):c.1037-1G>A
NM_000334.4(SCN4A):c.1037-6C>T
NM_000334.4(SCN4A):c.1038G>C (p.Gly346=)
NM_000334.4(SCN4A):c.1049_1053del (p.Tyr349_Phe350insTer)
NM_000334.4(SCN4A):c.1065C>T (p.Asn355=)
NM_000334.4(SCN4A):c.1066G>A (p.Asp356Asn)
NM_000334.4(SCN4A):c.1070C>T (p.Ala357Val)
NM_000334.4(SCN4A):c.1080T>C (p.Cys360=) rs757081435
NM_000334.4(SCN4A):c.1088G>C (p.Ser363Thr)
NM_000334.4(SCN4A):c.1094A>G (p.Asp365Gly) rs2144807923
NM_000334.4(SCN4A):c.109G>A (p.Ala37Thr)
NM_000334.4(SCN4A):c.1100+10del
NM_000334.4(SCN4A):c.1100+15G>C rs533321924
NM_000334.4(SCN4A):c.1100+3G>A rs1288881000
NM_000334.4(SCN4A):c.1101-13G>C
NM_000334.4(SCN4A):c.1113G>A (p.Glu371=)
NM_000334.4(SCN4A):c.111C>A (p.Ala37=)
NM_000334.4(SCN4A):c.1125C>A (p.Cys375Ter)
NM_000334.4(SCN4A):c.1125C>T (p.Cys375=)
NM_000334.4(SCN4A):c.112C>A (p.Arg38=) rs776201356
NM_000334.4(SCN4A):c.112C>T (p.Arg38Trp)
NM_000334.4(SCN4A):c.1132A>G (p.Thr378Ala) rs2144807432
NM_000334.4(SCN4A):c.1134C>T (p.Thr378=) rs762198335
NM_000334.4(SCN4A):c.1158C>T (p.Tyr386=) rs745394242
NM_000334.4(SCN4A):c.1170C>T (p.Asp390=)
NM_000334.4(SCN4A):c.1173del (p.Phe392fs) rs1235665641
NM_000334.4(SCN4A):c.1242+20G>A
NM_000334.4(SCN4A):c.1242+7_1242+18del rs1909434763
NM_000334.4(SCN4A):c.1243-10C>A
NM_000334.4(SCN4A):c.1243-17_1243-3del rs771943636
NM_000334.4(SCN4A):c.1243-17_1243-3dup rs771943636
NM_000334.4(SCN4A):c.1243-7C>T
NM_000334.4(SCN4A):c.1243-9C>T
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.1278C>T (p.Phe426=)
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.1291A>T (p.Ile431Phe) rs1555604164
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.1320T>G (p.Asn440Lys) rs864622785
NM_000334.4(SCN4A):c.1323G>C (p.Leu441=)
NM_000334.4(SCN4A):c.1326C>A (p.Ile442=)
NM_000334.4(SCN4A):c.1328T>C (p.Leu443Pro) rs1555604153
NM_000334.4(SCN4A):c.1331C>A (p.Ala444Asp)
NM_000334.4(SCN4A):c.1333G>A (p.Val445Met) rs121908552
NM_000334.4(SCN4A):c.1333G>T (p.Val445Leu) rs121908552
NM_000334.4(SCN4A):c.1338G>A (p.Val446=) rs796737034
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.1377C>A (p.Ala459=) rs781392555
NM_000334.4(SCN4A):c.137A>G (p.Glu46Gly) rs1909654912
NM_000334.4(SCN4A):c.1406A>G (p.Gln469Arg)
NM_000334.4(SCN4A):c.1414C>T (p.Leu472Phe)
NM_000334.4(SCN4A):c.1425C>T (p.Phe475=)
NM_000334.4(SCN4A):c.1426A>G (p.Lys476Glu)
NM_000334.4(SCN4A):c.1441_1442delinsTT (p.Glu481Leu) rs1555604122
NM_000334.4(SCN4A):c.1452+19G>A
NM_000334.4(SCN4A):c.1453-8G>T rs1909349500
NM_000334.4(SCN4A):c.1495del (p.Asp499fs)
NM_000334.4(SCN4A):c.1500A>G (p.Pro500=)
NM_000334.4(SCN4A):c.1506T>C (p.His502=)
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.1536A>C (p.Thr512=)
NM_000334.4(SCN4A):c.1538C>T (p.Ser513Leu) rs1227159244
NM_000334.4(SCN4A):c.1539G>C (p.Ser513=) rs758833537
NM_000334.4(SCN4A):c.1539G>T (p.Ser513=) rs758833537
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.1560G>C (p.Pro520=) rs373819078
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.1585G>T (p.Gly529Cys) rs143457794
NM_000334.4(SCN4A):c.1588A>G (p.Ile530Val)
NM_000334.4(SCN4A):c.1590C>T (p.Ile530=)
NM_000334.4(SCN4A):c.1595A>G (p.Asp532Gly) rs1909340315
NM_000334.4(SCN4A):c.1606+10T>C rs924271388
NM_000334.4(SCN4A):c.1606+10_1606+94del rs1909334869
NM_000334.4(SCN4A):c.1606+15C>T
NM_000334.4(SCN4A):c.1606+16C>A
NM_000334.4(SCN4A):c.1606+16C>T
NM_000334.4(SCN4A):c.1606+17C>G
NM_000334.4(SCN4A):c.1606+1G>C
NM_000334.4(SCN4A):c.1606+20G>T rs73326363
NM_000334.4(SCN4A):c.1607-19G>A
NM_000334.4(SCN4A):c.1612G>C (p.Glu538Gln) rs1450925196
NM_000334.4(SCN4A):c.1635A>G (p.Pro545=)
NM_000334.4(SCN4A):c.163C>A (p.Arg55=) rs754070476
NM_000334.4(SCN4A):c.1641G>A (p.Trp547Ter)
NM_000334.4(SCN4A):c.1659C>G (p.His553Gln)
NM_000334.4(SCN4A):c.1683C>T (p.Cys561=)
NM_000334.4(SCN4A):c.1688C>T (p.Pro563Leu)
NM_000334.4(SCN4A):c.1693C>G (p.Leu565Val) rs1597980227
NM_000334.4(SCN4A):c.1693C>T (p.Leu565=)
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>T (p.Asp57=) rs1415923721
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.1734G>A (p.Pro578=) rs1216814077
NM_000334.4(SCN4A):c.1734G>C (p.Pro578=)
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.1800C>G (p.Tyr600Ter) rs778746718
NM_000334.4(SCN4A):c.1809G>A (p.Thr603=)
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.183C>G (p.Gly61=) rs2143027485
NM_000334.4(SCN4A):c.1843C>A (p.Leu615Met) rs763346049
NM_000334.4(SCN4A):c.1843C>G (p.Leu615Val)
NM_000334.4(SCN4A):c.1845+14G>A
NM_000334.4(SCN4A):c.1845+16G>A
NM_000334.4(SCN4A):c.1845+17G>A
NM_000334.4(SCN4A):c.1845+18A>C rs775429476
NM_000334.4(SCN4A):c.1845+18A>G rs775429476
NM_000334.4(SCN4A):c.1845+18A>T rs775429476
NM_000334.4(SCN4A):c.1846-19G>T
NM_000334.4(SCN4A):c.1846-6C>A rs190853310
NM_000334.4(SCN4A):c.1848C>A (p.Val616=)
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.1905C>A (p.Tyr635Ter)
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.1925G>A (p.Trp642Ter)
NM_000334.4(SCN4A):c.1929T>C (p.Asn643=) rs2144795628
NM_000334.4(SCN4A):c.1945A>G (p.Ile649Val) rs1909172837
NM_000334.4(SCN4A):c.1947C>A (p.Ile649=) rs564134251
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.1986A>C (p.Val662=)
NM_000334.4(SCN4A):c.1995G>A (p.Leu665=)
NM_000334.4(SCN4A):c.1999G>A (p.Val667Met) rs1487941051
NM_000334.4(SCN4A):c.2001G>A (p.Val667=)
NM_000334.4(SCN4A):c.2008_2009delinsAG (p.Ser670=)
NM_000334.4(SCN4A):c.2010C>A (p.Ser670=)
NM_000334.4(SCN4A):c.2012T>G (p.Phe671Cys) rs772873287
NM_000334.4(SCN4A):c.2014C>A (p.Arg672Ser) rs80338785
NM_000334.4(SCN4A):c.2014C>G (p.Arg672Gly) rs80338785
NM_000334.4(SCN4A):c.2014C>T (p.Arg672Cys) rs80338785
NM_000334.4(SCN4A):c.2015G>A (p.Arg672His) rs80338788
NM_000334.4(SCN4A):c.2016T>C (p.Arg672=) rs988857421
NM_000334.4(SCN4A):c.2019+10del rs1386474833
NM_000334.4(SCN4A):c.2019+13C>T rs772218988
NM_000334.4(SCN4A):c.2019+5A>G rs1555603359
NM_000334.4(SCN4A):c.2019+8A>G rs1597978601
NM_000334.4(SCN4A):c.213C>T (p.Pro71=) rs2143027400
NM_000334.4(SCN4A):c.215C>T (p.Pro72Leu) rs1303471186
NM_000334.4(SCN4A):c.215dup (p.Pro73fs) rs1909650741
NM_000334.4(SCN4A):c.223G>T (p.Val75Phe) rs1909649961
NM_000334.4(SCN4A):c.225C>T (p.Val75=)
NM_000334.4(SCN4A):c.235C>A (p.Pro79Thr) rs376505442
NM_000334.4(SCN4A):c.257A>G (p.Tyr86Cys)
NM_000334.4(SCN4A):c.273+17G>A
NM_000334.4(SCN4A):c.273+17G>C rs375940672
NM_000334.4(SCN4A):c.273+8C>A rs1167045006
NM_000334.4(SCN4A):c.289A>G (p.Asn97Asp)
NM_000334.4(SCN4A):c.305T>C (p.Ile102Thr)
NM_000334.4(SCN4A):c.314T>C (p.Phe105Ser) rs1347004471
NM_000334.4(SCN4A):c.315C>A (p.Phe105Leu)
NM_000334.4(SCN4A):c.319G>A (p.Ala107Thr)
NM_000334.4(SCN4A):c.336C>G (p.Tyr112Ter)
NM_000334.4(SCN4A):c.358G>A (p.Val120Ile)
NM_000334.4(SCN4A):c.365G>T (p.Arg122Leu) rs374529559
NM_000334.4(SCN4A):c.373A>G (p.Ile125Val)
NM_000334.4(SCN4A):c.379G>A (p.Val127Met)
NM_000334.4(SCN4A):c.387C>G (p.Ile129Met) rs377620351
NM_000334.4(SCN4A):c.389A>T (p.His130Leu)
NM_000334.4(SCN4A):c.392+17G>A
NM_000334.4(SCN4A):c.392C>A (p.Ala131Glu)
NM_000334.4(SCN4A):c.393-6C>A rs373185863
NM_000334.4(SCN4A):c.393-6C>T
NM_000334.4(SCN4A):c.395T>G (p.Leu132Arg)
NM_000334.4(SCN4A):c.39C>A (p.Gly13=) rs367551440
NM_000334.4(SCN4A):c.39C>T (p.Gly13=) rs367551440
NM_000334.4(SCN4A):c.412A>C (p.Met138Leu) rs749604225
NM_000334.4(SCN4A):c.428C>A (p.Thr143Asn) rs1909633732
NM_000334.4(SCN4A):c.435C>T (p.Cys145=)
NM_000334.4(SCN4A):c.448A>C (p.Met150Leu) rs543502873
NM_000334.4(SCN4A):c.449T>A (p.Met150Lys) rs1009083383
NM_000334.4(SCN4A):c.449T>C (p.Met150Thr)
NM_000334.4(SCN4A):c.456C>T (p.Asp152=)
NM_000334.4(SCN4A):c.461C>T (p.Pro154Leu) rs2144814296
NM_000334.4(SCN4A):c.46T>A (p.Cys16Ser) rs773541890
NM_000334.4(SCN4A):c.472A>G (p.Lys158Glu) rs1555604989
NM_000334.4(SCN4A):c.479T>G (p.Val160Gly) rs2144814286
NM_000334.4(SCN4A):c.482+10C>T rs1597987667
NM_000334.4(SCN4A):c.482+3A>G
NM_000334.4(SCN4A):c.483-16G>A rs1597987551
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.483-3del rs753162147
NM_000334.4(SCN4A):c.483-3dup rs753162147
NM_000334.4(SCN4A):c.483-4C>G rs200062384
NM_000334.4(SCN4A):c.483-5C>A rs191547933
NM_000334.4(SCN4A):c.483-5C>G rs191547933
NM_000334.4(SCN4A):c.483-5C>T rs191547933
NM_000334.4(SCN4A):c.483-6C>G
NM_000334.4(SCN4A):c.483-9C>A rs201552497
NM_000334.4(SCN4A):c.483-9C>T rs201552497
NM_000334.4(SCN4A):c.494C>T (p.Thr165Ile) rs1322561669
NM_000334.4(SCN4A):c.498G>A (p.Gly166=) rs2144813932
NM_000334.4(SCN4A):c.499A>T (p.Ile167Phe)
NM_000334.4(SCN4A):c.506C>A (p.Thr169Asn)
NM_000334.4(SCN4A):c.514T>G (p.Ser172Ala)
NM_000334.4(SCN4A):c.522C>T (p.Ile174=)
NM_000334.4(SCN4A):c.527T>C (p.Ile176Thr) rs1909617747
NM_000334.4(SCN4A):c.529C>T (p.Leu177=)
NM_000334.4(SCN4A):c.52C>T (p.Arg18Cys) rs78592515
NM_000334.4(SCN4A):c.532G>A (p.Ala178Thr)
NM_000334.4(SCN4A):c.548T>G (p.Val183Gly)
NM_000334.4(SCN4A):c.550G>A (p.Asp184Asn)
NM_000334.4(SCN4A):c.554A>T (p.Asp185Val)
NM_000334.4(SCN4A):c.55C>G (p.Pro19Ala) rs772628295
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.598G>A (p.Val200Ile) rs2144813782
NM_000334.4(SCN4A):c.5C>T (p.Ala2Val)
NM_000334.4(SCN4A):c.600C>A (p.Val200=)
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+11del
NM_000334.4(SCN4A):c.611+12C>T
NM_000334.4(SCN4A):c.611+15C>T
NM_000334.4(SCN4A):c.611+16_611+24del
NM_000334.4(SCN4A):c.611+1G>A
NM_000334.4(SCN4A):c.611+3_611+7delinsAACC
NM_000334.4(SCN4A):c.612-11C>T
NM_000334.4(SCN4A):c.612-15C>A
NM_000334.4(SCN4A):c.612-17del rs542836462
NM_000334.4(SCN4A):c.612-18C>G
NM_000334.4(SCN4A):c.612-18C>T
NM_000334.4(SCN4A):c.612-19C>G rs550132900
NM_000334.4(SCN4A):c.612-20C>T
NM_000334.4(SCN4A):c.612-5C>A rs1289035327
NM_000334.4(SCN4A):c.612-8C>T rs1909599791
NM_000334.4(SCN4A):c.612-9C>G
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.633C>T (p.Asp211=)
NM_000334.4(SCN4A):c.644T>C (p.Ile215Thr) rs1555604867
NM_000334.4(SCN4A):c.64C>G (p.Arg22Gly)
NM_000334.4(SCN4A):c.652C>T (p.Leu218=)
NM_000334.4(SCN4A):c.65G>A (p.Arg22Gln) rs1413223155
NM_000334.4(SCN4A):c.678C>T (p.Ala226=)
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+1G>T rs1909596551
NM_000334.4(SCN4A):c.703+3A>T
NM_000334.4(SCN4A):c.703+8G>A
NM_000334.4(SCN4A):c.704-12C>G
NM_000334.4(SCN4A):c.704-6G>A
NM_000334.4(SCN4A):c.704-6G>C rs368225907
NM_000334.4(SCN4A):c.704-7C>T
NM_000334.4(SCN4A):c.706C>T (p.Leu236=) rs1253475807
NM_000334.4(SCN4A):c.713C>A (p.Thr238Lys) rs201661188
NM_000334.4(SCN4A):c.714G>A (p.Thr238=)
NM_000334.4(SCN4A):c.715A>G (p.Ile239Val) rs1909519361
NM_000334.4(SCN4A):c.717C>T (p.Ile239=) rs568242866
NM_000334.4(SCN4A):c.723G>A (p.Gly241=)
NM_000334.4(SCN4A):c.724G>T (p.Ala242Ser)
NM_000334.4(SCN4A):c.733C>A (p.Gln245Lys) rs2144810270
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.73C>T (p.Leu25=) rs1597988304
NM_000334.4(SCN4A):c.748C>A (p.Leu250Met)
NM_000334.4(SCN4A):c.749T>C (p.Leu250Pro) rs1057521065
NM_000334.4(SCN4A):c.749T>G (p.Leu250Arg) rs1057521065
NM_000334.4(SCN4A):c.753G>A (p.Ser251=)
NM_000334.4(SCN4A):c.754G>A (p.Asp252Asn)
NM_000334.4(SCN4A):c.760A>G (p.Met254Val)
NM_000334.4(SCN4A):c.768C>G (p.Leu256=) rs1597985505
NM_000334.4(SCN4A):c.789C>T (p.Val263=)
NM_000334.4(SCN4A):c.791T>C (p.Phe264Ser)
NM_000334.4(SCN4A):c.792T>C (p.Phe264=)
NM_000334.4(SCN4A):c.795G>A (p.Ala265=)
NM_000334.4(SCN4A):c.803G>C (p.Gly268Ala)
NM_000334.4(SCN4A):c.808C>A (p.Gln270Lys) rs1597985462
NM_000334.4(SCN4A):c.808C>G (p.Gln270Glu)
NM_000334.4(SCN4A):c.811C>T (p.Leu271Phe)
NM_000334.4(SCN4A):c.830G>A (p.Arg277Lys)
NM_000334.4(SCN4A):c.834G>A (p.Gln278=)
NM_000334.4(SCN4A):c.840T>C (p.Cys280=) rs1555604611
NM_000334.4(SCN4A):c.844C>T (p.Arg282Cys)
NM_000334.4(SCN4A):c.872A>G (p.Asn291Ser) rs781129876
NM_000334.4(SCN4A):c.87A>G (p.Glu29=) rs2143027796
NM_000334.4(SCN4A):c.886_903dup (p.Ser296_Tyr301dup) rs769414184
NM_000334.4(SCN4A):c.888C>T (p.Ser296=)
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.915A>T (p.Thr305=)
NM_000334.4(SCN4A):c.916T>C (p.Trp306Arg)
NM_000334.4(SCN4A):c.916T>G (p.Trp306Gly)
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.975C>T (p.Asn325=)
NM_000334.4(SCN4A):c.985A>G (p.Ser329Gly)
NM_000334.4(SCN4A):c.992C>T (p.Ala331Val)

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