ClinVar Miner

List of variants studied for Hyperkalemic periodic paralysis

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1661
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000334.4(SCN4A):c.1570A>G (p.Ser524Gly) rs6504191 0.91477
NM_000334.4(SCN4A):c.*710T>C rs2532111 0.67728
NM_000334.4(SCN4A):c.4126A>G (p.Asn1376Asp) rs2058194 0.59717
NM_000334.4(SCN4A):c.4869A>G (p.Thr1623=) rs2070720 0.43390
NM_000334.4(SCN4A):c.3318+12C>A rs13341114 0.26769
NM_000334.4(SCN4A):c.*1427T>C rs2727278 0.18159
NM_000334.4(SCN4A):c.*1271T>A rs2727277 0.18122
NM_000334.4(SCN4A):c.*22A>G rs2228995 0.17899
NM_000334.4(SCN4A):c.4539C>A (p.Ile1513=) rs56342400 0.16783
NM_000334.4(SCN4A):c.5478T>G (p.Thr1826=) rs2227906 0.15916
NM_000334.4(SCN4A):c.1845+12C>G rs776175702 0.15279
NM_000334.4(SCN4A):c.5403C>T (p.Ala1801=) rs2227907 0.12581
NM_000334.4(SCN4A):c.*563G>A rs2532112 0.08626
NM_000334.4(SCN4A):c.2631T>C (p.Asp877=) rs79893125 0.08466
NM_000334.4(SCN4A):c.*1737A>G rs16947276 0.06978
NM_000334.4(SCN4A):c.864C>T (p.Asn288=) rs7218917 0.06188
NM_000334.4(SCN4A):c.*1357A>G rs113012761 0.05971
NM_000334.4(SCN4A):c.*122G>A rs2228997 0.05774
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.2919C>T (p.Pro973=) rs73992419 0.03148
NM_000334.4(SCN4A):c.4288+10G>T rs114059193 0.03137
NM_000334.4(SCN4A):c.3720+10A>G rs111679484 0.02281
NM_000334.4(SCN4A):c.*1611A>G rs16947280 0.02126
NM_000334.4(SCN4A):c.2989+5G>A rs115695396 0.02066
NM_000334.4(SCN4A):c.3759C>T (p.Ala1253=) rs72851170 0.01961
NM_000334.4(SCN4A):c.726C>T (p.Ala242=) rs73326368 0.01791
NM_000334.4(SCN4A):c.4017+15G>T rs77844100 0.01755
NM_000334.4(SCN4A):c.*1368G>C rs113385942 0.01686
NM_000334.4(SCN4A):c.*1677_*1678insAT rs397797581 0.01652
NM_000334.4(SCN4A):c.4905C>T (p.Ile1635=) rs59081944 0.01571
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met) rs80338952 0.01562
NM_000334.4(SCN4A):c.*332C>T rs77962116 0.01507
NM_000334.4(SCN4A):c.2289C>T (p.Ile763=) rs76894284 0.01359
NM_000334.4(SCN4A):c.2717G>C (p.Ser906Thr) rs41280102 0.01003
NM_000334.4(SCN4A):c.*1989C>T rs77615646 0.00968
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) rs62070884 0.00873
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.3720+9G>T rs9303466 0.00769
NM_000334.4(SCN4A):c.*1088A>G rs77725962 0.00759
NM_000334.4(SCN4A):c.3441+7G>A rs142270113 0.00738
NM_000334.4(SCN4A):c.5499G>A (p.Glu1833=) rs116469710 0.00716
NM_000334.4(SCN4A):c.*1215G>A rs112758825 0.00696
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.*129G>T rs140026321 0.00401
NM_000334.4(SCN4A):c.2645C>A (p.Pro882Gln) rs111858905 0.00367
NM_000334.4(SCN4A):c.5190C>T (p.Cys1730=) rs113277954 0.00347
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.*1324T>C rs544883913 0.00256
NM_000334.4(SCN4A):c.2748C>G (p.Asn916Lys) rs115379510 0.00253
NM_000334.4(SCN4A):c.*1828A>G rs79003915 0.00233
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.2722G>A (p.Glu908Lys) rs117664682 0.00186
NM_000334.4(SCN4A):c.4215C>T (p.Leu1405=) rs141215137 0.00153
NM_000334.4(SCN4A):c.3774+7C>T rs199659791 0.00149
NM_000334.4(SCN4A):c.248T>C (p.Leu83Pro) rs147352060 0.00141
NM_000334.4(SCN4A):c.2623C>T (p.Pro875Ser) rs201148948 0.00134
NM_000334.4(SCN4A):c.2854-5C>T rs374039266 0.00133
NM_000334.4(SCN4A):c.*552A>G rs533628539 0.00124
NM_000334.4(SCN4A):c.2890G>A (p.Val964Ile) rs200947169 0.00117
NM_000334.4(SCN4A):c.1011T>C (p.Asp337=) rs372791798 0.00112
NM_000334.4(SCN4A):c.*2170G>A rs569759069 0.00108
NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile) rs202106192 0.00108
NM_000334.4(SCN4A):c.*2150C>A rs182791237 0.00105
NM_000334.4(SCN4A):c.2478C>T (p.Ile826=) rs371914255 0.00105
NM_000334.4(SCN4A):c.*2072G>A rs192346663 0.00099
NM_000334.4(SCN4A):c.318C>T (p.Ser106=) rs138670794 0.00089
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.1576G>A (p.Gly526Arg) rs181292216 0.00069
NM_000334.4(SCN4A):c.3774+8G>A rs374806849 0.00064
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.2188G>A (p.Val730Met) rs113462659 0.00058
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.5274C>T (p.His1758=) rs113418988 0.00051
NM_000334.4(SCN4A):c.3001C>T (p.Arg1001Cys) rs199713025 0.00048
NM_000334.4(SCN4A):c.8G>C (p.Arg3Thr) rs764134362 0.00046
NM_000334.4(SCN4A):c.2697G>A (p.Leu899=) rs199827271 0.00044
NM_000334.4(SCN4A):c.951A>G (p.Ser317=) rs185246154 0.00044
NM_000334.4(SCN4A):c.*2085C>G rs756262968 0.00042
NM_000334.4(SCN4A):c.403A>C (p.Met135Leu) rs148028364 0.00042
NM_000334.4(SCN4A):c.5424G>A (p.Met1808Ile) rs201375413 0.00042
NM_000334.4(SCN4A):c.199A>G (p.Ile67Val) rs200834218 0.00041
NM_000334.4(SCN4A):c.3429C>T (p.Phe1143=) rs373597946 0.00038
NM_000334.4(SCN4A):c.2592C>T (p.Ala864=) rs200354336 0.00036
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.1607-17T>C rs202103551 0.00032
NM_000334.4(SCN4A):c.2200G>T (p.Ala734Ser) rs199651516 0.00030
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.5181G>A (p.Glu1727=) rs368263333 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.2955C>T (p.Pro985=) rs375621334 0.00026
NM_000334.4(SCN4A):c.2995G>A (p.Val999Met) rs377277110 0.00026
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.845G>A (p.Arg282His) rs200615763 0.00025
NM_000334.4(SCN4A):c.*873G>C rs540759411 0.00024
NM_000334.4(SCN4A):c.1101-16C>T rs376459843 0.00024
NM_000334.4(SCN4A):c.5366C>T (p.Ser1789Leu) rs201414160 0.00022
NM_000334.4(SCN4A):c.1430A>G (p.Lys477Arg) rs182691342 0.00021
NM_000334.4(SCN4A):c.2649C>T (p.Pro883=) rs368024629 0.00021
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.1281C>T (p.Phe427=) rs369445518 0.00019
NM_000334.4(SCN4A):c.5037C>T (p.Ile1679=) rs372002602 0.00019
NM_000334.4(SCN4A):c.211C>T (p.Pro71Ser) rs187055074 0.00018
NM_000334.4(SCN4A):c.3285C>T (p.Asn1095=) rs371401377 0.00018
NM_000334.4(SCN4A):c.611C>T (p.Ala204Val) rs199859508 0.00018
NM_000334.4(SCN4A):c.*304G>A rs545908155 0.00017
NM_000334.4(SCN4A):c.*86G>T rs566876110 0.00017
NM_000334.4(SCN4A):c.3318+20C>G rs368263593 0.00017
NM_000334.4(SCN4A):c.3360G>A (p.Ser1120=) rs377187913 0.00017
NM_000334.4(SCN4A):c.4519G>A (p.Val1507Ile) rs140517911 0.00016
NM_000334.4(SCN4A):c.963C>T (p.Asn321=) rs748863960 0.00016
NM_000334.4(SCN4A):c.5472G>A (p.Gly1824=) rs576801452 0.00015
NM_000334.4(SCN4A):c.4891G>A (p.Ala1631Thr) rs201115695 0.00014
NM_000334.4(SCN4A):c.552C>T (p.Asp184=) rs370730079 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.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.2563A>G (p.Met855Val) rs372019457 0.00011
NM_000334.4(SCN4A):c.3774+20A>G rs377552760 0.00011
NM_000334.4(SCN4A):c.4083C>A (p.Ile1361=) rs374480468 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.-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.4410G>A (p.Thr1470=) rs534861830 0.00010
NM_000334.4(SCN4A):c.4644C>T (p.Ser1548=) rs751973449 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.5468C>G (p.Pro1823Arg) rs376833596 0.00010
NM_000334.4(SCN4A):c.*1916C>T rs139537251 0.00009
NM_000334.4(SCN4A):c.*630T>C rs779847568 0.00009
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.2130C>T (p.Ile710=) rs776552053 0.00009
NM_000334.4(SCN4A):c.2220G>A (p.Pro740=) rs368278422 0.00009
NM_000334.4(SCN4A):c.2340C>T (p.Thr780=) rs375349902 0.00009
NM_000334.4(SCN4A):c.2421C>T (p.Ala807=) rs540328974 0.00009
NM_000334.4(SCN4A):c.2646G>A (p.Pro882=) rs538173069 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.4886C>T (p.Pro1629Leu) rs202102815 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.2685C>T (p.Asn895=) rs760183656 0.00008
NM_000334.4(SCN4A):c.2862G>A (p.Pro954=) rs375375167 0.00008
NM_000334.4(SCN4A):c.3084C>A (p.Val1028=) rs377273244 0.00008
NM_000334.4(SCN4A):c.4386C>G (p.Ile1462Met) rs763827415 0.00008
NM_000334.4(SCN4A):c.4602G>A (p.Thr1534=) rs186181122 0.00008
NM_000334.4(SCN4A):c.*1313G>A rs761821168 0.00007
NM_000334.4(SCN4A):c.1139G>A (p.Arg380Gln) rs374446143 0.00007
NM_000334.4(SCN4A):c.2295C>A (p.Thr765=) rs370434474 0.00007
NM_000334.4(SCN4A):c.238C>T (p.Leu80=) rs768080216 0.00007
NM_000334.4(SCN4A):c.2468A>C (p.Gln823Pro) rs753182664 0.00007
NM_000334.4(SCN4A):c.2793C>T (p.Ser931=) rs201036204 0.00007
NM_000334.4(SCN4A):c.483-8C>T rs566047339 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.-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.2054C>T (p.Thr685Met) rs140022722 0.00006
NM_000334.4(SCN4A):c.2448T>C (p.Asp816=) rs150307926 0.00006
NM_000334.4(SCN4A):c.2610G>A (p.Ala870=) rs375918619 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.3018C>T (p.Tyr1006=) rs755880799 0.00006
NM_000334.4(SCN4A):c.3027C>T (p.Ile1009=) rs750690287 0.00006
NM_000334.4(SCN4A):c.3221A>T (p.Tyr1074Phe) rs753318973 0.00006
NM_000334.4(SCN4A):c.365G>A (p.Arg122His) rs374529559 0.00006
NM_000334.4(SCN4A):c.367G>A (p.Gly123Arg) rs377572814 0.00006
NM_000334.4(SCN4A):c.4125C>T (p.Asp1375=) rs375607705 0.00006
NM_000334.4(SCN4A):c.45G>A (p.Glu15=) rs763166498 0.00006
NM_000334.4(SCN4A):c.4609G>A (p.Gly1537Ser) rs571210585 0.00006
NM_000334.4(SCN4A):c.4680G>A (p.Pro1560=) rs370207597 0.00006
NM_000334.4(SCN4A):c.4719C>T (p.Ile1573=) rs562551941 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.5436C>A (p.Pro1812=) rs377620682 0.00006
NM_000334.4(SCN4A):c.5495A>G (p.Lys1832Arg) rs778802285 0.00006
NM_000334.4(SCN4A):c.679C>T (p.Leu227Phe) rs368999500 0.00006
NM_000334.4(SCN4A):c.787G>A (p.Val263Ile) rs775418104 0.00006
NM_000334.4(SCN4A):c.*1572T>G rs771871843 0.00005
NM_000334.4(SCN4A):c.*754T>C rs574113483 0.00005
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.2662A>C (p.Lys888Gln) rs202155883 0.00005
NM_000334.4(SCN4A):c.2721C>T (p.Leu907=) rs376432808 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.3516G>A (p.Leu1172=) rs200061238 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.4626C>T (p.Leu1542=) rs773864470 0.00005
NM_000334.4(SCN4A):c.4711C>T (p.Pro1571Ser) rs772552529 0.00005
NM_000334.4(SCN4A):c.4881C>T (p.Phe1627=) rs771914246 0.00005
NM_000334.4(SCN4A):c.5085C>T (p.Asp1695=) rs755769915 0.00005
NM_000334.4(SCN4A):c.5292C>T (p.Asp1764=) rs773576176 0.00005
NM_000334.4(SCN4A):c.5343C>T (p.Gly1781=) rs745441690 0.00005
NM_000334.4(SCN4A):c.704-8G>A rs762393514 0.00005
NM_000334.4(SCN4A):c.*1172G>A rs540304010 0.00004
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.2112G>A (p.Thr704=) rs374119331 0.00004
NM_000334.4(SCN4A):c.2235T>C (p.His745=) rs777157991 0.00004
NM_000334.4(SCN4A):c.2256C>T (p.Leu752=) rs375596512 0.00004
NM_000334.4(SCN4A):c.2376+10G>A rs1194053149 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.2853+8G>A rs377221069 0.00004
NM_000334.4(SCN4A):c.2886G>A (p.Ser962=) rs779571330 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.3442-18G>T rs377676692 0.00004
NM_000334.4(SCN4A):c.3594C>T (p.Phe1198=) rs201346556 0.00004
NM_000334.4(SCN4A):c.3721-20C>T rs758053088 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.3939G>A (p.Thr1313=) rs769542012 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.4289-4G>A rs750364111 0.00004
NM_000334.4(SCN4A):c.4566C>T (p.Phe1522=) rs538968877 0.00004
NM_000334.4(SCN4A):c.4581C>A (p.Ile1527=) rs752523459 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.5145C>T (p.Tyr1715=) rs768902509 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.5367G>A (p.Ser1789=) rs189230866 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.*394A>C rs886053244 0.00003
NM_000334.4(SCN4A):c.*670T>G rs148552329 0.00003
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.2149G>A (p.Val717Met) rs770283788 0.00003
NM_000334.4(SCN4A):c.2163G>A (p.Leu721=) rs371312493 0.00003
NM_000334.4(SCN4A):c.2260G>A (p.Val754Ile) rs747401713 0.00003
NM_000334.4(SCN4A):c.237C>T (p.Pro79=) rs374261960 0.00003
NM_000334.4(SCN4A):c.2564T>C (p.Met855Thr) rs1346442665 0.00003
NM_000334.4(SCN4A):c.2574C>T (p.Leu858=) rs184107335 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.3318+15G>A rs371928013 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.3466G>A (p.Ala1156Thr) rs80338958 0.00003
NM_000334.4(SCN4A):c.354C>T (p.Ser118=) rs753453769 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.4116G>A (p.Val1372=) rs755256694 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.4263C>T (p.Phe1421=) rs267604989 0.00003
NM_000334.4(SCN4A):c.4288+7G>C rs773803283 0.00003
NM_000334.4(SCN4A):c.4303G>C (p.Asp1435His) rs776355318 0.00003
NM_000334.4(SCN4A):c.4323C>T (p.Phe1441=) rs372442108 0.00003
NM_000334.4(SCN4A):c.4378C>T (p.Arg1460Trp) rs368256039 0.00003
NM_000334.4(SCN4A):c.4387C>A (p.Arg1463Ser) rs774453167 0.00003
NM_000334.4(SCN4A):c.4540G>A (p.Asp1514Asn) rs374278037 0.00003
NM_000334.4(SCN4A):c.4545T>C (p.Asp1515=) rs924795809 0.00003
NM_000334.4(SCN4A):c.4704C>T (p.Cys1568=) rs548305586 0.00003
NM_000334.4(SCN4A):c.4705G>A (p.Gly1569Ser) rs774821803 0.00003
NM_000334.4(SCN4A):c.5029C>T (p.Leu1677=) rs774089795 0.00003
NM_000334.4(SCN4A):c.5191G>A (p.Ala1731Thr) rs371104286 0.00003
NM_000334.4(SCN4A):c.5239A>G (p.Met1747Val) rs748599327 0.00003
NM_000334.4(SCN4A):c.5275G>A (p.Asp1759Asn) rs1015807829 0.00003
NM_000334.4(SCN4A):c.5482C>T (p.Arg1828Cys) rs758511540 0.00003
NM_000334.4(SCN4A):c.553G>A (p.Asp185Asn) rs778661227 0.00003
NM_000334.4(SCN4A):c.568C>T (p.Arg190Trp) rs763866848 0.00003
NM_000334.4(SCN4A):c.64C>T (p.Arg22Trp) rs865873054 0.00003
NM_000334.4(SCN4A):c.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.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.2262C>T (p.Val754=) rs372634288 0.00002
NM_000334.4(SCN4A):c.229G>A (p.Gly77Ser) rs369547459 0.00002
NM_000334.4(SCN4A):c.2356A>G (p.Met786Val) rs778729831 0.00002
NM_000334.4(SCN4A):c.2420C>T (p.Ala807Val) rs749013806 0.00002
NM_000334.4(SCN4A):c.2439G>A (p.Ser813=) rs137890985 0.00002
NM_000334.4(SCN4A):c.2449G>A (p.Gly817Ser) rs746797094 0.00002
NM_000334.4(SCN4A):c.2469G>A (p.Gln823=) rs1020010363 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.2778C>T (p.Ile926=) rs769634298 0.00002
NM_000334.4(SCN4A):c.2784C>T (p.Ser928=) rs775693710 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.2989+7G>A rs558907834 0.00002
NM_000334.4(SCN4A):c.2990-8C>T rs369430465 0.00002
NM_000334.4(SCN4A):c.2994C>T (p.Cys998=) rs185803223 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.3039T>C (p.Arg1013=) rs1319435457 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+17T>C rs766325793 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.3394C>T (p.Arg1132Trp) rs778176181 0.00002
NM_000334.4(SCN4A):c.3402G>T (p.Leu1134=) rs769404443 0.00002
NM_000334.4(SCN4A):c.3442-15C>A rs763401184 0.00002
NM_000334.4(SCN4A):c.3525C>T (p.Ser1175=) rs750868036 0.00002
NM_000334.4(SCN4A):c.3622G>C (p.Glu1208Gln) rs754401226 0.00002
NM_000334.4(SCN4A):c.3681C>T (p.Tyr1227=) rs368851367 0.00002
NM_000334.4(SCN4A):c.3688G>A (p.Val1230Met) rs778820577 0.00002
NM_000334.4(SCN4A):c.3876C>T (p.Gly1292=) rs1461420199 0.00002
NM_000334.4(SCN4A):c.4052C>T (p.Thr1351Met) rs545724550 0.00002
NM_000334.4(SCN4A):c.419C>T (p.Thr140Ile) rs967530693 0.00002
NM_000334.4(SCN4A):c.4216G>A (p.Ala1406Thr) rs774364108 0.00002
NM_000334.4(SCN4A):c.4236C>A (p.Phe1412Leu) rs747252041 0.00002
NM_000334.4(SCN4A):c.4264G>A (p.Val1422Met) rs567183255 0.00002
NM_000334.4(SCN4A):c.4359G>A (p.Ala1453=) rs757915411 0.00002
NM_000334.4(SCN4A):c.4364T>C (p.Ile1455Thr) rs377176361 0.00002
NM_000334.4(SCN4A):c.4419C>T (p.Phe1473=) rs374319193 0.00002
NM_000334.4(SCN4A):c.4434G>A (p.Ser1478=) rs753725579 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.483-7C>T rs780933125 0.00002
NM_000334.4(SCN4A):c.4878G>A (p.Lys1626=) rs374337084 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.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.*1218G>A rs908902727 0.00001
NM_000334.4(SCN4A):c.1000G>A (p.Asp334Asn) rs766055241 0.00001
NM_000334.4(SCN4A):c.1172C>A (p.Thr391Asn) rs1321029357 0.00001
NM_000334.4(SCN4A):c.1192G>A (p.Ala398Thr) rs1174261819 0.00001
NM_000334.4(SCN4A):c.1201C>T (p.Arg401Cys) rs1188070167 0.00001
NM_000334.4(SCN4A):c.1207A>G (p.Met403Val) rs566340596 0.00001
NM_000334.4(SCN4A):c.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.2023C>T (p.Arg675Trp) rs121908556 0.00001
NM_000334.4(SCN4A):c.2024G>A (p.Arg675Gln) rs121908557 0.00001
NM_000334.4(SCN4A):c.2083A>G (p.Asn695Asp) rs1327920743 0.00001
NM_000334.4(SCN4A):c.2097G>A (p.Ala699=) rs765222494 0.00001
NM_000334.4(SCN4A):c.2099T>A (p.Leu700Gln) rs1909105453 0.00001
NM_000334.4(SCN4A):c.2145C>T (p.Ala715=) rs1909103840 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.2208C>T (p.Asp736=) rs751675273 0.00001
NM_000334.4(SCN4A):c.2221C>T (p.Arg741Cys) rs1472308847 0.00001
NM_000334.4(SCN4A):c.2223C>T (p.Arg741=) rs1041781133 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.2274G>C (p.Leu758=) rs368537002 0.00001
NM_000334.4(SCN4A):c.2280G>T (p.Gly760=) rs753779301 0.00001
NM_000334.4(SCN4A):c.228C>T (p.Ile76=) rs1189122757 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.2328C>T (p.Ala776=) rs367936207 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.2364C>T (p.Ile788=) rs768158707 0.00001
NM_000334.4(SCN4A):c.2386C>T (p.Leu796=) rs750053946 0.00001
NM_000334.4(SCN4A):c.240G>A (p.Leu80=) rs760094343 0.00001
NM_000334.4(SCN4A):c.2586C>T (p.Asp862=) rs756161095 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.2625C>T (p.Pro875=) rs533858326 0.00001
NM_000334.4(SCN4A):c.2628G>A (p.Glu876=) rs368479778 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.2715C>T (p.Ser905=) rs1597973581 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.2731C>T (p.His911Tyr) rs752200039 0.00001
NM_000334.4(SCN4A):c.2760G>A (p.Leu920=) rs762808534 0.00001
NM_000334.4(SCN4A):c.2779G>A (p.Ala927Thr) rs1439097461 0.00001
NM_000334.4(SCN4A):c.2797C>G (p.Leu933Val) rs757508857 0.00001
NM_000334.4(SCN4A):c.2812G>A (p.Glu938Lys) rs374673348 0.00001
NM_000334.4(SCN4A):c.2826C>T (p.Asp942=) rs1183710096 0.00001
NM_000334.4(SCN4A):c.282C>T (p.Ile94=) rs563602704 0.00001
NM_000334.4(SCN4A):c.2853+7C>T rs760934874 0.00001
NM_000334.4(SCN4A):c.2854-19G>A rs1280578508 0.00001
NM_000334.4(SCN4A):c.291C>T (p.Asn97=) rs770919076 0.00001
NM_000334.4(SCN4A):c.2958G>A (p.Glu986=) rs372555830 0.00001
NM_000334.4(SCN4A):c.2961G>T (p.Gly987=) rs1447182115 0.00001
NM_000334.4(SCN4A):c.2990-4T>A rs1346938988 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.307T>G (p.Phe103Val) rs554349260 0.00001
NM_000334.4(SCN4A):c.3080T>C (p.Ile1027Thr) rs772835617 0.00001
NM_000334.4(SCN4A):c.3099C>T (p.Phe1033=) rs753862870 0.00001
NM_000334.4(SCN4A):c.3129C>T (p.Leu1043=) rs747471262 0.00001
NM_000334.4(SCN4A):c.3145-5C>A rs750109872 0.00001
NM_000334.4(SCN4A):c.3204C>T (p.Ala1068=) rs780229549 0.00001
NM_000334.4(SCN4A):c.3228C>T (p.Phe1076=) rs939978015 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.3261C>T (p.Tyr1087=) rs534552884 0.00001
NM_000334.4(SCN4A):c.3318+14C>T rs199864927 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.337C>T (p.Leu113=) rs553234696 0.00001
NM_000334.4(SCN4A):c.3390A>G (p.Thr1130=) rs774845449 0.00001
NM_000334.4(SCN4A):c.3395G>A (p.Arg1132Gln) rs80338789 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.3453C>T (p.Asn1151=) rs768187283 0.00001
NM_000334.4(SCN4A):c.345C>T (p.Ser115=) rs1909641231 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.3618G>A (p.Lys1206=) rs757658622 0.00001
NM_000334.4(SCN4A):c.3639G>A (p.Met1213Ile) rs1267107348 0.00001
NM_000334.4(SCN4A):c.3642C>T (p.His1214=) rs577108088 0.00001
NM_000334.4(SCN4A):c.3678C>T (p.Asn1226=) rs1218404418 0.00001
NM_000334.4(SCN4A):c.3720+20C>A rs1187897404 0.00001
NM_000334.4(SCN4A):c.3720+7G>A rs553870552 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.3775-12T>C rs1191297022 0.00001
NM_000334.4(SCN4A):c.3775-5C>T rs777201502 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.3858C>T (p.Thr1286=) rs538933926 0.00001
NM_000334.4(SCN4A):c.3877G>A (p.Val1293Ile) rs121908551 0.00001
NM_000334.4(SCN4A):c.3904A>C (p.Lys1302Gln) rs1555601285 0.00001
NM_000334.4(SCN4A):c.3917G>C (p.Gly1306Ala) rs80338792 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.3936G>C (p.Met1312Ile) rs1567817375 0.00001
NM_000334.4(SCN4A):c.3963C>T (p.Asn1321=) rs747602881 0.00001
NM_000334.4(SCN4A):c.4009C>T (p.Arg1337Trp) rs779717594 0.00001
NM_000334.4(SCN4A):c.4017+8C>T rs201269475 0.00001
NM_000334.4(SCN4A):c.4053G>A (p.Thr1351=) rs376395544 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.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.4200C>T (p.Cys1400=) rs760454638 0.00001
NM_000334.4(SCN4A):c.4208A>G (p.Lys1403Arg) rs1480233641 0.00001
NM_000334.4(SCN4A):c.4218C>G (p.Ala1406=) rs770836153 0.00001
NM_000334.4(SCN4A):c.4239C>T (p.Thr1413=) rs779956632 0.00001
NM_000334.4(SCN4A):c.4266G>A (p.Val1422=) rs1908587559 0.00001
NM_000334.4(SCN4A):c.4267G>A (p.Val1423Ile) rs943905262 0.00001
NM_000334.4(SCN4A):c.4269C>T (p.Val1423=) rs757880810 0.00001
NM_000334.4(SCN4A):c.4270G>A (p.Val1424Ile) rs375844960 0.00001
NM_000334.4(SCN4A):c.4288+15C>A rs1006841428 0.00001
NM_000334.4(SCN4A):c.4289-5C>T rs1396119458 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.4388G>A (p.Arg1463His) rs771340029 0.00001
NM_000334.4(SCN4A):c.4389C>T (p.Arg1463=) rs763124097 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.4398G>A (p.Lys1466=) rs1384075799 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.4416G>A (p.Leu1472=) rs758113478 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.4484T>C (p.Ile1495Thr) rs1318966106 0.00001
NM_000334.4(SCN4A):c.4497C>T (p.Phe1499=) rs572237501 0.00001
NM_000334.4(SCN4A):c.4503G>A (p.Met1501Ile) rs1467904959 0.00001
NM_000334.4(SCN4A):c.4567G>A (p.Gly1523Ser) rs549771520 0.00001
NM_000334.4(SCN4A):c.458C>T (p.Pro153Leu) rs781033413 0.00001
NM_000334.4(SCN4A):c.4590C>T (p.Phe1530=) rs199824534 0.00001
NM_000334.4(SCN4A):c.4601C>T (p.Thr1534Met) rs939785324 0.00001
NM_000334.4(SCN4A):c.4608C>T (p.Ala1536=) rs764476134 0.00001
NM_000334.4(SCN4A):c.4617C>T (p.Asp1539=) rs772431686 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.4782C>T (p.Ile1594=) rs190975011 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.483-20G>A rs771069029 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.4887C>T (p.Pro1629=) rs756370516 0.00001
NM_000334.4(SCN4A):c.4888G>A (p.Asp1630Asn) rs540950122 0.00001
NM_000334.4(SCN4A):c.4890C>T (p.Asp1630=) rs781276397 0.00001
NM_000334.4(SCN4A):c.48C>T (p.Cys16=) rs765207978 0.00001
NM_000334.4(SCN4A):c.4915C>G (p.Arg1639Gly) rs776231847 0.00001
NM_000334.4(SCN4A):c.4950G>A (p.Pro1650=) rs375995481 0.00001
NM_000334.4(SCN4A):c.4971C>T (p.Asn1657=) rs1307196671 0.00001
NM_000334.4(SCN4A):c.4983C>T (p.Leu1661=) rs1908520604 0.00001
NM_000334.4(SCN4A):c.4995C>T (p.Asp1665=) rs750776495 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.5283C>T (p.Ser1761=) rs766569872 0.00001
NM_000334.4(SCN4A):c.5285G>A (p.Gly1762Glu) rs1328990008 0.00001
NM_000334.4(SCN4A):c.5293G>A (p.Ala1765Thr) rs531694454 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.5346C>T (p.His1782=) rs1567815713 0.00001
NM_000334.4(SCN4A):c.5347G>A (p.Glu1783Lys) rs377673196 0.00001
NM_000334.4(SCN4A):c.5352T>C (p.Asn1784=) rs374079457 0.00001
NM_000334.4(SCN4A):c.536G>A (p.Arg179Gln) rs777130479 0.00001
NM_000334.4(SCN4A):c.5376G>A (p.Pro1792=) rs765644422 0.00001
NM_000334.4(SCN4A):c.5389G>A (p.Glu1797Lys) rs1398520652 0.00001
NM_000334.4(SCN4A):c.5394A>G (p.Ala1798=) rs916993526 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.54C>T (p.Arg18=) rs775998468 0.00001
NM_000334.4(SCN4A):c.5506G>A (p.Val1836Ile) rs554836244 0.00001
NM_000334.4(SCN4A):c.554A>C (p.Asp185Ala) rs1597987427 0.00001
NM_000334.4(SCN4A):c.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.(?_62006586)_(62050201_?)dup
NC_000017.10:g.(?_62018111)_(62987152_?)dup
NC_000017.10:g.(?_62024385)_(62034898_?)del
NC_000017.10:g.(?_62034502)_(62034898_?)del
NC_000017.10:g.(?_62048502)_(62050201_?)dup
NM_000083.3(CLCN1):c.2015G>A (p.Arg672His)
NM_000083.3(CLCN1):c.2639_2641del (p.Leu880del)
NM_000334.4(SCN4A):c.*1205C>G rs886053241
NM_000334.4(SCN4A):c.*1345A>G rs1908450197
NM_000334.4(SCN4A):c.*1384ATATATGTGT[3] rs112489358
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.*1679TG[7] rs66908473
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.*2169C>G rs191754378
NM_000334.4(SCN4A):c.*315C>T rs886053245
NM_000334.4(SCN4A):c.*981G>A rs144800677
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.2020-18G>A
NM_000334.4(SCN4A):c.2020-4G>T
NM_000334.4(SCN4A):c.2023C>G (p.Arg675Gly) rs121908556
NM_000334.4(SCN4A):c.2026G>A (p.Val676Ile)
NM_000334.4(SCN4A):c.2053A>G (p.Thr685Ala) rs1909108173
NM_000334.4(SCN4A):c.2061C>T (p.Asn687=) rs1482355253
NM_000334.4(SCN4A):c.2065C>A (p.Leu689Ile) rs80338955
NM_000334.4(SCN4A):c.2067C>A (p.Leu689=)
NM_000334.4(SCN4A):c.2076C>G (p.Ile692Met) rs1224997537
NM_000334.4(SCN4A):c.2078T>C (p.Ile693Thr) rs80338956
NM_000334.4(SCN4A):c.2078T>G (p.Ile693Ser)
NM_000334.4(SCN4A):c.2092G>T (p.Gly698Trp) rs1909106013
NM_000334.4(SCN4A):c.2095G>A (p.Ala699Thr) rs1057518865
NM_000334.4(SCN4A):c.2101G>C (p.Gly701Arg) rs1909105377
NM_000334.4(SCN4A):c.2107C>T (p.Leu703=)
NM_000334.4(SCN4A):c.2110A>T (p.Thr704Ser) rs1909105230
NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met) rs80338957
NM_000334.4(SCN4A):c.2112G>C (p.Thr704=)
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.213C>T (p.Pro71=) rs2143027400
NM_000334.4(SCN4A):c.2143G>A (p.Ala715Thr) rs749400108
NM_000334.4(SCN4A):c.2143G>C (p.Ala715Pro) rs749400108
NM_000334.4(SCN4A):c.2150T>C (p.Val717Ala) rs1567823095
NM_000334.4(SCN4A):c.2155A>G (p.Met719Val)
NM_000334.4(SCN4A):c.215C>T (p.Pro72Leu) rs1303471186
NM_000334.4(SCN4A):c.215dup (p.Pro73fs) rs1909650741
NM_000334.4(SCN4A):c.2163G>C (p.Leu721=) rs371312493
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>A (p.Glu728=) rs779766143
NM_000334.4(SCN4A):c.2184G>C (p.Glu728Asp) rs779766143
NM_000334.4(SCN4A):c.2187C>T (p.Cys729=) rs749942058
NM_000334.4(SCN4A):c.2209T>C (p.Cys737Arg)
NM_000334.4(SCN4A):c.2212A>T (p.Asn738Tyr)
NM_000334.4(SCN4A):c.2219C>T (p.Pro740Leu)
NM_000334.4(SCN4A):c.2230A>G (p.Met744Val)
NM_000334.4(SCN4A):c.223G>T (p.Val75Phe) rs1909649961
NM_000334.4(SCN4A):c.2241C>G (p.Phe747Leu)
NM_000334.4(SCN4A):c.2241C>T (p.Phe747=) rs1188601087
NM_000334.4(SCN4A):c.2259C>T (p.Ile753=)
NM_000334.4(SCN4A):c.225C>T (p.Val75=)
NM_000334.4(SCN4A):c.2277C>T (p.Cys759=)
NM_000334.4(SCN4A):c.2278G>A (p.Gly760Arg) rs991008969
NM_000334.4(SCN4A):c.2292G>A (p.Glu764=) rs1555603112
NM_000334.4(SCN4A):c.2295C>T (p.Thr765=)
NM_000334.4(SCN4A):c.2297T>C (p.Met766Thr)
NM_000334.4(SCN4A):c.2335C>G (p.Leu779Val)
NM_000334.4(SCN4A):c.2359G>A (p.Val787Ile) rs532827016
NM_000334.4(SCN4A):c.2359G>T (p.Val787Phe) rs532827016
NM_000334.4(SCN4A):c.235C>A (p.Pro79Thr) rs376505442
NM_000334.4(SCN4A):c.2365G>A (p.Gly789Ser) rs1172083418
NM_000334.4(SCN4A):c.2375T>C (p.Val792Ala)
NM_000334.4(SCN4A):c.2375T>G (p.Val792Gly) rs1357236962
NM_000334.4(SCN4A):c.2376+14G>A
NM_000334.4(SCN4A):c.2377-17del rs761358378
NM_000334.4(SCN4A):c.2377G>C (p.Val793Leu)
NM_000334.4(SCN4A):c.2377G>T (p.Val793Phe)
NM_000334.4(SCN4A):c.2379C>T (p.Val793=)
NM_000334.4(SCN4A):c.2385C>T (p.Asn795=)
NM_000334.4(SCN4A):c.2386C>G (p.Leu796Val) rs750053946
NM_000334.4(SCN4A):c.2391C>G (p.Phe797Leu) rs1253601722
NM_000334.4(SCN4A):c.2401C>T (p.Leu801=)
NM_000334.4(SCN4A):c.2411C>T (p.Ser804Phe) rs121908546
NM_000334.4(SCN4A):c.2418C>T (p.Ser806=)
NM_000334.4(SCN4A):c.2426G>T (p.Ser809Ile) rs1463760993
NM_000334.4(SCN4A):c.2436C>T (p.Ala812=)
NM_000334.4(SCN4A):c.2438C>G (p.Ser813Trp) rs748067563
NM_000334.4(SCN4A):c.2451C>A (p.Gly817=) rs754110462
NM_000334.4(SCN4A):c.2454G>C (p.Glu818Asp) rs1908924564
NM_000334.4(SCN4A):c.2460C>T (p.Asn820=)
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.2490G>A (p.Lys830=)
NM_000334.4(SCN4A):c.2513C>A (p.Ala838Asp)
NM_000334.4(SCN4A):c.2522T>C (p.Leu841Pro) rs1908921340
NM_000334.4(SCN4A):c.2523G>A (p.Leu841=)
NM_000334.4(SCN4A):c.2523G>C (p.Leu841=)
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.2568C>T (p.Leu856=)
NM_000334.4(SCN4A):c.2571C>T (p.Ser857=)
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.257A>G (p.Tyr86Cys)
NM_000334.4(SCN4A):c.2585_2602del (p.Asp862_Ala867del) rs776181227
NM_000334.4(SCN4A):c.2593G>A (p.Gly865Arg) rs752159625
NM_000334.4(SCN4A):c.2593G>C (p.Gly865Arg) rs752159625
NM_000334.4(SCN4A):c.2596G>A (p.Glu866Lys)
NM_000334.4(SCN4A):c.2599_2616del (p.864AGE[1])
NM_000334.4(SCN4A):c.2599_2616dup (p.864_866AGE[5]) rs768289095
NM_000334.4(SCN4A):c.2608G>A (p.Ala870Thr) rs2144786989
NM_000334.4(SCN4A):c.2612G>A (p.Gly871Glu) rs1908916464
NM_000334.4(SCN4A):c.2612G>T (p.Gly871Val)
NM_000334.4(SCN4A):c.2614dup (p.Glu872fs) rs1908916380
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.2667G>A (p.Lys889=)
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.2700T>C (p.Ala900=) rs1193886090
NM_000334.4(SCN4A):c.2711C>A (p.Pro904Gln) rs867372759
NM_000334.4(SCN4A):c.2718C>T (p.Ser906=)
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.2732A>G (p.His911Arg) rs1908907908
NM_000334.4(SCN4A):c.2739C>T (p.Asn913=)
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.2806C>G (p.Pro936Ala)
NM_000334.4(SCN4A):c.2814G>A (p.Glu938=)
NM_000334.4(SCN4A):c.2823C>T (p.Thr941=)
NM_000334.4(SCN4A):c.2825A>G (p.Asp942Gly) rs1908902761
NM_000334.4(SCN4A):c.2829T>C (p.Thr943=) rs2144786514
NM_000334.4(SCN4A):c.2830_2831del (p.Phe944fs) rs2144786506
NM_000334.4(SCN4A):c.2832C>T (p.Phe944=) rs2144786504
NM_000334.4(SCN4A):c.2849G>C (p.Ser950Thr)
NM_000334.4(SCN4A):c.2853+10G>A rs771981248
NM_000334.4(SCN4A):c.2853+18C>G
NM_000334.4(SCN4A):c.2854-3C>T
NM_000334.4(SCN4A):c.2854-4G>A
NM_000334.4(SCN4A):c.2854-6C>T rs1311365592
NM_000334.4(SCN4A):c.2854-9C>T
NM_000334.4(SCN4A):c.2859G>A (p.Pro953=)
NM_000334.4(SCN4A):c.2863C>A (p.Gln955Lys) rs1185395150
NM_000334.4(SCN4A):c.2869C>T (p.Leu957Phe)
NM_000334.4(SCN4A):c.2889C>A (p.Ser963=) rs757881584
NM_000334.4(SCN4A):c.2889C>T (p.Ser963=) rs757881584
NM_000334.4(SCN4A):c.289A>G (p.Asn97Asp)
NM_000334.4(SCN4A):c.2900C>T (p.Thr967Ile) rs1908838389
NM_000334.4(SCN4A):c.2905G>A (p.Asp969Asn) rs2144784455
NM_000334.4(SCN4A):c.2913G>A (p.Lys971=) rs530640921
NM_000334.4(SCN4A):c.2914C>T (p.Pro972Ser)
NM_000334.4(SCN4A):c.2916C>T (p.Pro972=)
NM_000334.4(SCN4A):c.2919del (p.Glu974fs) rs1567819905
NM_000334.4(SCN4A):c.2930C>T (p.Pro977Leu)
NM_000334.4(SCN4A):c.2932G>C (p.Glu978Gln) rs1555601999
NM_000334.4(SCN4A):c.2937G>A (p.Glu979=)
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.2952C>T (p.Asn984=)
NM_000334.4(SCN4A):c.2953C>T (p.Pro985Ser) rs1322343855
NM_000334.4(SCN4A):c.2959G>A (p.Gly987Arg)
NM_000334.4(SCN4A):c.2961G>A (p.Gly987=) rs1447182115
NM_000334.4(SCN4A):c.2962G>A (p.Glu988Lys)
NM_000334.4(SCN4A):c.2968C>A (p.Pro990Thr)
NM_000334.4(SCN4A):c.2973G>A (p.Glu991=)
NM_000334.4(SCN4A):c.2974G>A (p.Glu992Lys)
NM_000334.4(SCN4A):c.2989+15C>T
NM_000334.4(SCN4A):c.2989+18C>G rs2144784248
NM_000334.4(SCN4A):c.2989G>A (p.Ala997Thr)
NM_000334.4(SCN4A):c.2990-18C>T
NM_000334.4(SCN4A):c.2990-20G>T
NM_000334.4(SCN4A):c.2990-8C>G
NM_000334.4(SCN4A):c.2990-9C>A
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.3030C>T (p.Ser1010=)
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.3058C>T (p.Leu1020=)
NM_000334.4(SCN4A):c.305T>C (p.Ile102Thr)
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.3066G>A (p.Arg1022=)
NM_000334.4(SCN4A):c.3084C>T (p.Val1028=)
NM_000334.4(SCN4A):c.3089A>G (p.His1030Arg)
NM_000334.4(SCN4A):c.3109A>T (p.Ile1037Phe)
NM_000334.4(SCN4A):c.3123C>A (p.Ile1041=)
NM_000334.4(SCN4A):c.3144+11C>T
NM_000334.4(SCN4A):c.3144+3A>G
NM_000334.4(SCN4A):c.3145-3del
NM_000334.4(SCN4A):c.3145-7C>T
NM_000334.4(SCN4A):c.3147C>T (p.Ala1049=)
NM_000334.4(SCN4A):c.314T>C (p.Phe105Ser) rs1347004471
NM_000334.4(SCN4A):c.3150C>T (p.Phe1050=)
NM_000334.4(SCN4A):c.3151G>A (p.Glu1051Lys) rs1555601786
NM_000334.4(SCN4A):c.3157A>G (p.Ile1053Val)
NM_000334.4(SCN4A):c.3159C>G (p.Ile1053Met) rs1302161849
NM_000334.4(SCN4A):c.315C>A (p.Phe105Leu)
NM_000334.4(SCN4A):c.3164T>A (p.Ile1055Asn)
NM_000334.4(SCN4A):c.3172C>T (p.Arg1058Trp)
NM_000334.4(SCN4A):c.3175C>T (p.Arg1059Ter)
NM_000334.4(SCN4A):c.3184C>T (p.Arg1062Cys)
NM_000334.4(SCN4A):c.3185G>C (p.Arg1062Pro) rs769704334
NM_000334.4(SCN4A):c.3188C>T (p.Thr1063Ile)
NM_000334.4(SCN4A):c.319G>A (p.Ala107Thr)
NM_000334.4(SCN4A):c.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.3263dup (p.Phe1089fs) rs2144782598
NM_000334.4(SCN4A):c.3271G>A (p.Val1091Met)
NM_000334.4(SCN4A):c.3293G>T (p.Cys1098Phe) rs1050182641
NM_000334.4(SCN4A):c.3300C>T (p.Leu1100=)
NM_000334.4(SCN4A):c.3303C>G (p.Asp1101Glu) rs1908777669
NM_000334.4(SCN4A):c.3309C>T (p.Leu1103=)
NM_000334.4(SCN4A):c.3312C>G (p.Ile1104Met) rs779189351
NM_000334.4(SCN4A):c.3312C>T (p.Ile1104=) 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.3318+18G>A
NM_000334.4(SCN4A):c.3318+20C>T rs368263593
NM_000334.4(SCN4A):c.3318+7C>T
NM_000334.4(SCN4A):c.3318+9C>T
NM_000334.4(SCN4A):c.3319-12C>T rs766233648
NM_000334.4(SCN4A):c.3319-4G>A
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.3357C>T (p.Tyr1119=) rs903219930
NM_000334.4(SCN4A):c.3359C>T (p.Ser1120Leu) rs1314399622
NM_000334.4(SCN4A):c.3368G>A (p.Gly1123Glu)
NM_000334.4(SCN4A):c.336C>G (p.Tyr112Ter)
NM_000334.4(SCN4A):c.3377A>G (p.Lys1126Arg)
NM_000334.4(SCN4A):c.3386G>C (p.Arg1129Pro) rs527236149
NM_000334.4(SCN4A):c.3394C>A (p.Arg1132=) rs778176181
NM_000334.4(SCN4A):c.3394C>G (p.Arg1132Gly) rs778176181
NM_000334.4(SCN4A):c.3397del (p.Ala1133fs)
NM_000334.4(SCN4A):c.3402G>A (p.Leu1134=)
NM_000334.4(SCN4A):c.3403C>T (p.Arg1135Cys)
NM_000334.4(SCN4A):c.3404G>A (p.Arg1135His) rs527236150
NM_000334.4(SCN4A):c.3425G>A (p.Arg1142Gln) rs780703403
NM_000334.4(SCN4A):c.3436A>G (p.Met1146Val)
NM_000334.4(SCN4A):c.3440G>C (p.Arg1147Thr) rs1908747679
NM_000334.4(SCN4A):c.3442-12C>G rs538428104
NM_000334.4(SCN4A):c.3442-12C>T rs538428104
NM_000334.4(SCN4A):c.3442-17G>C
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.3455C>A (p.Ala1152Asp)
NM_000334.4(SCN4A):c.3466G>T (p.Ala1156Ser) rs80338958
NM_000334.4(SCN4A):c.3472C>T (p.Pro1158Ser) rs121908555
NM_000334.4(SCN4A):c.3473C>T (p.Pro1158Leu) rs1555601448
NM_000334.4(SCN4A):c.3478A>G (p.Ile1160Val) rs121908549
NM_000334.4(SCN4A):c.3491T>C (p.Leu1164Pro) rs1444949985
NM_000334.4(SCN4A):c.3506T>C (p.Ile1169Thr)
NM_000334.4(SCN4A):c.3510C>T (p.Phe1170=)
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.3546T>C (p.Phe1182=)
NM_000334.4(SCN4A):c.3549C>T (p.Ala1183=)
NM_000334.4(SCN4A):c.3562T>C (p.Tyr1188His)
NM_000334.4(SCN4A):c.358G>A (p.Val120Ile)
NM_000334.4(SCN4A):c.3591G>A (p.Arg1197=)
NM_000334.4(SCN4A):c.3598A>G (p.Ile1200Val)
NM_000334.4(SCN4A):c.3603C>T (p.Ser1201=)
NM_000334.4(SCN4A):c.3607del (p.Val1203fs)
NM_000334.4(SCN4A):c.3609C>T (p.Val1203=)
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.3630G>A (p.Glu1210=)
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.365G>T (p.Arg122Leu) rs374529559
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.3687C>T (p.Asn1229=)
NM_000334.4(SCN4A):c.3696G>A (p.Leu1232=) rs2144779293
NM_000334.4(SCN4A):c.3720+19C>T
NM_000334.4(SCN4A):c.3720+6T>C
NM_000334.4(SCN4A):c.3720G>A (p.Val1240=) rs1567818014
NM_000334.4(SCN4A):c.3722C>G (p.Ala1241Gly)
NM_000334.4(SCN4A):c.373A>G (p.Ile125Val)
NM_000334.4(SCN4A):c.3747C>T (p.Ile1249=)
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.3774+11G>A
NM_000334.4(SCN4A):c.3774+12T>G
NM_000334.4(SCN4A):c.3774+14G>A
NM_000334.4(SCN4A):c.3774+19G>A
NM_000334.4(SCN4A):c.3774+19G>C
NM_000334.4(SCN4A):c.3775-13G>A rs1423251716
NM_000334.4(SCN4A):c.3775-15C>A
NM_000334.4(SCN4A):c.3788C>T (p.Pro1263Leu) rs767272792
NM_000334.4(SCN4A):c.3789G>T (p.Pro1263=) rs574892874
NM_000334.4(SCN4A):c.3795C>T (p.Tyr1265=)
NM_000334.4(SCN4A):c.3799G>A (p.Val1267Met)
NM_000334.4(SCN4A):c.379G>A (p.Val127Met)
NM_000334.4(SCN4A):c.3811A>G (p.Met1271Val) rs2144778458
NM_000334.4(SCN4A):c.3816C>T (p.Tyr1272=)
NM_000334.4(SCN4A):c.3829A>G (p.Ile1277Val) rs776750130
NM_000334.4(SCN4A):c.3831C>A (p.Ile1277=)
NM_000334.4(SCN4A):c.3831C>T (p.Ile1277=)
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.3870C>T (p.Phe1290=)
NM_000334.4(SCN4A):c.3872T>C (p.Ile1291Thr)
NM_000334.4(SCN4A):c.3877G>C (p.Val1293Leu)
NM_000334.4(SCN4A):c.387C>G (p.Ile129Met) rs377620351
NM_000334.4(SCN4A):c.3888C>T (p.Asp1296=)
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.3897C>T (p.Asn1299=)
NM_000334.4(SCN4A):c.3898C>G (p.Gln1300Glu) rs1357732381
NM_000334.4(SCN4A):c.3898CAG[1] (p.Gln1301del) rs752135284
NM_000334.4(SCN4A):c.389A>T (p.His130Leu)
NM_000334.4(SCN4A):c.3904A>G (p.Lys1302Glu) rs1555601285
NM_000334.4(SCN4A):c.3906G>C (p.Lys1302Asn)
NM_000334.4(SCN4A):c.3908A>G (p.Lys1303Arg)
NM_000334.4(SCN4A):c.3910_3912del rs1326940129
NM_000334.4(SCN4A):c.3912+10A>C
NM_000334.4(SCN4A):c.3912+20C>T
NM_000334.4(SCN4A):c.3912+3G>A
NM_000334.4(SCN4A):c.3913-14C>A
NM_000334.4(SCN4A):c.3913-8C>T
NM_000334.4(SCN4A):c.3917G>A (p.Gly1306Glu) rs80338792
NM_000334.4(SCN4A):c.3917G>T (p.Gly1306Val) rs80338792
NM_000334.4(SCN4A):c.392+17G>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.3929T>A (p.Ile1310Asn) rs1567817380
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.3930C>T (p.Ile1310=)
NM_000334.4(SCN4A):c.3937A>G (p.Thr1313Ala)
NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met) rs121908547
NM_000334.4(SCN4A):c.3955_3956delinsAT (p.Tyr1319Ile) rs1908624669
NM_000334.4(SCN4A):c.3957_3959del (p.Tyr1320del)
NM_000334.4(SCN4A):c.395T>G (p.Leu132Arg)
NM_000334.4(SCN4A):c.3964G>A (p.Ala1322Thr)
NM_000334.4(SCN4A):c.3965C>T (p.Ala1322Val) rs1567817350
NM_000334.4(SCN4A):c.3967A>G (p.Met1323Val) rs1908623807
NM_000334.4(SCN4A):c.3986A>G (p.Lys1329Arg)
NM_000334.4(SCN4A):c.3987G>C (p.Lys1329Asn)
NM_000334.4(SCN4A):c.39C>A (p.Gly13=) rs367551440
NM_000334.4(SCN4A):c.39C>T (p.Gly13=) rs367551440
NM_000334.4(SCN4A):c.4017+13G>C
NM_000334.4(SCN4A):c.4017+16C>A
NM_000334.4(SCN4A):c.4017+20C>T rs537558051
NM_000334.4(SCN4A):c.4017+5A>G
NM_000334.4(SCN4A):c.4018-16C>G
NM_000334.4(SCN4A):c.4018-3C>T
NM_000334.4(SCN4A):c.4018-4G>T
NM_000334.4(SCN4A):c.4032C>A (p.Gly1344=) rs1908598072
NM_000334.4(SCN4A):c.4038G>C (p.Val1346=)
NM_000334.4(SCN4A):c.4044C>A (p.Asp1348Glu)
NM_000334.4(SCN4A):c.4045C>T (p.Leu1349Phe) rs994344058
NM_000334.4(SCN4A):c.4056G>A (p.Lys1352=)
NM_000334.4(SCN4A):c.4060G>A (p.Ala1354Thr) rs2144776414
NM_000334.4(SCN4A):c.4063T>G (p.Phe1355Val)
NM_000334.4(SCN4A):c.4069A>C (p.Ile1357Leu) rs1555601045
NM_000334.4(SCN4A):c.4077C>G (p.Ile1359Met) rs1908595411
NM_000334.4(SCN4A):c.4078A>G (p.Met1360Val) rs80338959
NM_000334.4(SCN4A):c.4086_4087delinsAT (p.Ile1363Phe) rs1598405727
NM_000334.4(SCN4A):c.4089C>T (p.Ile1363=)
NM_000334.4(SCN4A):c.4092C>T (p.Cys1364=)
NM_000334.4(SCN4A):c.4098C>A (p.Asn1366Lys) rs1908594231
NM_000334.4(SCN4A):c.4099A>G (p.Met1367Val)
NM_000334.4(SCN4A):c.4108A>G (p.Met1370Val) rs80338960
NM_000334.4(SCN4A):c.4109T>C (p.Met1370Thr) rs1908593639
NM_000334.4(SCN4A):c.4117G>C (p.Glu1373Gln) rs1555601036
NM_000334.4(SCN4A):c.4125_4126inv (p.Asn1376Asp)
NM_000334.4(SCN4A):c.4127A>C (p.Asn1376Thr)
NM_000334.4(SCN4A):c.4128C>A (p.Asn1376Lys)
NM_000334.4(SCN4A):c.4128C>T (p.Asn1376=)
NM_000334.4(SCN4A):c.412A>C (p.Met138Leu) rs749604225
NM_000334.4(SCN4A):c.4149C>T (p.Asp1383=)
NM_000334.4(SCN4A):c.4167C>A (p.Asn1389Lys) rs1908591302
NM_000334.4(SCN4A):c.4167C>T (p.Asn1389=) 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.4194G>A (p.Gly1398=)
NM_000334.4(SCN4A):c.4198T>A (p.Cys1400Ser) rs2144776208
NM_000334.4(SCN4A):c.4204C>T (p.Leu1402Phe)
NM_000334.4(SCN4A):c.4207A>C (p.Lys1403Gln)
NM_000334.4(SCN4A):c.4215C>A (p.Leu1405=)
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.4258G>A (p.Asp1420Asn) rs1908587972
NM_000334.4(SCN4A):c.4278G>A (p.Leu1426=)
NM_000334.4(SCN4A):c.4278G>T (p.Leu1426=) rs1427540247
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+14G>C
NM_000334.4(SCN4A):c.4288+16T>C
NM_000334.4(SCN4A):c.4288+3G>A
NM_000334.4(SCN4A):c.4288+7G>A rs773803283
NM_000334.4(SCN4A):c.4288+8G>A
NM_000334.4(SCN4A):c.4289-7C>G
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.4296C>T (p.Ala1432=) rs1189085197
NM_000334.4(SCN4A):c.4300T>C (p.Ser1434Pro) rs1567816549
NM_000334.4(SCN4A):c.4301C>A (p.Ser1434Tyr) rs1908553663
NM_000334.4(SCN4A):c.4307T>C (p.Leu1436Pro) rs1598405334
NM_000334.4(SCN4A):c.4335G>A (p.Thr1445=)
NM_000334.4(SCN4A):c.4341C>T (p.Phe1447=) rs1908552142
NM_000334.4(SCN4A):c.4342C>A (p.Arg1448Ser) rs121908544
NM_000334.4(SCN4A):c.4342C>G (p.Arg1448Gly) rs121908544
NM_000334.4(SCN4A):c.4342C>T (p.Arg1448Cys) rs121908544
NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His) rs121908545
NM_000334.4(SCN4A):c.4343G>C (p.Arg1448Pro) rs121908545
NM_000334.4(SCN4A):c.4343G>T (p.Arg1448Leu) rs121908545
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.4354_4369del (p.Leu1452fs)
NM_000334.4(SCN4A):c.4356G>A (p.Leu1452=) rs754606856
NM_000334.4(SCN4A):c.435C>T (p.Cys145=)
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.4362G>A (p.Arg1454=) rs371698958
NM_000334.4(SCN4A):c.4367G>T (p.Gly1456Val)
NM_000334.4(SCN4A):c.4369C>T (p.Arg1457Cys) rs1473372899
NM_000334.4(SCN4A):c.4371T>C (p.Arg1457=) rs2144774823
NM_000334.4(SCN4A):c.4372G>T (p.Val1458Phe) rs1199222144
NM_000334.4(SCN4A):c.4382T>C (p.Leu1461Pro)
NM_000334.4(SCN4A):c.4383G>A (p.Leu1461=)
NM_000334.4(SCN4A):c.4387C>T (p.Arg1463Cys)
NM_000334.4(SCN4A):c.4388G>T (p.Arg1463Leu) rs771340029
NM_000334.4(SCN4A):c.4389C>A (p.Arg1463=) rs763124097
NM_000334.4(SCN4A):c.4390G>C (p.Gly1464Arg) rs150423825
NM_000334.4(SCN4A):c.4390G>T (p.Gly1464Trp)
NM_000334.4(SCN4A):c.4395C>T (p.Ala1465=) rs2144774757
NM_000334.4(SCN4A):c.4396A>G (p.Lys1466Glu)
NM_000334.4(SCN4A):c.4401C>T (p.Gly1467=)
NM_000334.4(SCN4A):c.4415T>C (p.Leu1472Pro) rs1057520169
NM_000334.4(SCN4A):c.4424T>C (p.Leu1475Pro)
NM_000334.4(SCN4A):c.4426A>G (p.Met1476Val) rs1567816461
NM_000334.4(SCN4A):c.4427T>C (p.Met1476Thr) rs1064795409
NM_000334.4(SCN4A):c.4428G>A (p.Met1476Ile) rs121908559
NM_000334.4(SCN4A):c.4433C>T (p.Ser1478Leu)
NM_000334.4(SCN4A):c.4434G>C (p.Ser1478=) rs753725579
NM_000334.4(SCN4A):c.4442C>A (p.Ala1481Asp) rs763893717
NM_000334.4(SCN4A):c.4456G>A (p.Gly1486Ser)
NM_000334.4(SCN4A):c.4457G>T (p.Gly1486Val) rs1567816424
NM_000334.4(SCN4A):c.4458C>T (p.Gly1486=)
NM_000334.4(SCN4A):c.4459C>T (p.Leu1487Phe) rs1908545064
NM_000334.4(SCN4A):c.4464C>T (p.Leu1488=) rs377064207
NM_000334.4(SCN4A):c.4472del (p.Leu1491fs)
NM_000334.4(SCN4A):c.4477A>G (p.Met1493Val) rs1280474636
NM_000334.4(SCN4A):c.4485C>G (p.Ile1495Met)
NM_000334.4(SCN4A):c.4488C>T (p.Tyr1496=)
NM_000334.4(SCN4A):c.448A>C (p.Met150Leu) rs543502873
NM_000334.4(SCN4A):c.4490C>A (p.Ser1497Tyr) rs2144774561
NM_000334.4(SCN4A):c.449T>A (p.Met150Lys) rs1009083383
NM_000334.4(SCN4A):c.449T>C (p.Met150Thr)
NM_000334.4(SCN4A):c.4507A>G (p.Asn1503Asp)
NM_000334.4(SCN4A):c.4518C>T (p.Tyr1506=)
NM_000334.4(SCN4A):c.4522A>G (p.Lys1508Glu) rs1555600752
NM_000334.4(SCN4A):c.4524G>A (p.Lys1508=)
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.4563C>G (p.Thr1521=)
NM_000334.4(SCN4A):c.4564T>G (p.Phe1522Val)
NM_000334.4(SCN4A):c.4568G>A (p.Gly1523Asp) rs1285419994
NM_000334.4(SCN4A):c.456C>T (p.Asp152=)
NM_000334.4(SCN4A):c.4585C>T (p.Leu1529=)
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.4605G>A (p.Ser1535=) rs182438287
NM_000334.4(SCN4A):c.4605G>C (p.Ser1535=) rs182438287
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.461C>T (p.Pro154Leu) rs2144814296
NM_000334.4(SCN4A):c.4642A>G (p.Ser1548Gly) rs1567816311
NM_000334.4(SCN4A):c.4645G>A (p.Gly1549Arg) rs748122664
NM_000334.4(SCN4A):c.4646G>A (p.Gly1549Glu)
NM_000334.4(SCN4A):c.4653A>T (p.Pro1551=)
NM_000334.4(SCN4A):c.4660G>T (p.Asp1554Tyr)
NM_000334.4(SCN4A):c.4678C>A (p.Pro1560Thr)
NM_000334.4(SCN4A):c.4692C>T (p.Val1564=)
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.46T>A (p.Cys16Ser) rs773541890
NM_000334.4(SCN4A):c.4713C>G (p.Pro1571=)
NM_000334.4(SCN4A):c.4716C>T (p.Ser1572=) rs903281617
NM_000334.4(SCN4A):c.4717A>G (p.Ile1573Val)
NM_000334.4(SCN4A):c.4719C>A (p.Ile1573=) rs562551941
NM_000334.4(SCN4A):c.472A>G (p.Lys158Glu) rs1555604989
NM_000334.4(SCN4A):c.4743T>C (p.Tyr1581=)
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>A (p.Val1589Met) rs121908548
NM_000334.4(SCN4A):c.4774A>G (p.Met1592Val) rs80338962
NM_000334.4(SCN4A):c.4776G>A (p.Met1592Ile) rs886041805
NM_000334.4(SCN4A):c.4781T>A (p.Ile1594Asn)
NM_000334.4(SCN4A):c.479T>G (p.Val160Gly) rs2144814286
NM_000334.4(SCN4A):c.4815A>T (p.Thr1605=)
NM_000334.4(SCN4A):c.4819G>A (p.Glu1607Lys)
NM_000334.4(SCN4A):c.482+10C>T rs1597987667
NM_000334.4(SCN4A):c.482+3A>G
NM_000334.4(SCN4A):c.4823G>C (p.Ser1608Thr) rs1908528535
NM_000334.4(SCN4A):c.4825A>C (p.Ser1609Arg) rs1555600678
NM_000334.4(SCN4A):c.4827C>G (p.Ser1609Arg)
NM_000334.4(SCN4A):c.483-16G>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.4833C>G (p.Pro1611=)
NM_000334.4(SCN4A):c.4836T>A (p.Leu1612=) rs1393932690
NM_000334.4(SCN4A):c.4844A>G (p.Asp1615Gly) rs2144773991
NM_000334.4(SCN4A):c.4884C>A (p.Asp1628Glu)
NM_000334.4(SCN4A):c.4893C>T (p.Ala1631=)
NM_000334.4(SCN4A):c.4894A>T (p.Thr1632Ser)
NM_000334.4(SCN4A):c.4897C>G (p.Gln1633Glu) rs2144773878
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.4938C>G (p.Thr1646=)
NM_000334.4(SCN4A):c.4945G>A (p.Glu1649Lys)
NM_000334.4(SCN4A):c.494C>T (p.Thr165Ile) rs1322561669
NM_000334.4(SCN4A):c.4955G>A (p.Arg1652Lys) rs1314887157
NM_000334.4(SCN4A):c.498G>A (p.Gly166=) rs2144813932
NM_000334.4(SCN4A):c.4993G>C (p.Asp1665His) rs1567816038
NM_000334.4(SCN4A):c.499A>T (p.Ile167Phe)
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.5061C>T (p.Val1687=) rs1598404879
NM_000334.4(SCN4A):c.506C>A (p.Thr169Asn)
NM_000334.4(SCN4A):c.5075G>C (p.Gly1692Ala)
NM_000334.4(SCN4A):c.5102T>C (p.Met1701Thr) rs2144773551
NM_000334.4(SCN4A):c.5104G>A (p.Glu1702Lys) rs1555600605
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.5113T>A (p.Phe1705Ile) rs1064794243
NM_000334.4(SCN4A):c.5115C>A (p.Phe1705Leu) rs1908515104
NM_000334.4(SCN4A):c.5120C>T (p.Ala1707Val)
NM_000334.4(SCN4A):c.5124C>T (p.Ala1708=) rs1555600600
NM_000334.4(SCN4A):c.5130C>T (p.Pro1710=)
NM_000334.4(SCN4A):c.5142C>T (p.Ser1714=) rs2144773471
NM_000334.4(SCN4A):c.514T>G (p.Ser172Ala)
NM_000334.4(SCN4A):c.5154C>G (p.Ile1718Met) rs2144773462
NM_000334.4(SCN4A):c.5160C>T (p.Thr1720=)
NM_000334.4(SCN4A):c.5169G>A (p.Lys1723=) rs1477243382
NM_000334.4(SCN4A):c.5171G>A (p.Arg1724Lys) rs539487509
NM_000334.4(SCN4A):c.5172G>A (p.Arg1724=)
NM_000334.4(SCN4A):c.5178C>T (p.His1726=)
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.5208G>A (p.Arg1736=)
NM_000334.4(SCN4A):c.5214C>T (p.Tyr1738=) rs760885982
NM_000334.4(SCN4A):c.5218C>A (p.Arg1740=) rs373804267
NM_000334.4(SCN4A):c.5219G>A (p.Arg1740Gln)
NM_000334.4(SCN4A):c.5220G>A (p.Arg1740=) rs767847345
NM_000334.4(SCN4A):c.5221C>A (p.His1741Asn)
NM_000334.4(SCN4A):c.5229A>G (p.Leu1743=) rs1908508905
NM_000334.4(SCN4A):c.522C>T (p.Ile174=)
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.527T>C (p.Ile176Thr) rs1909617747
NM_000334.4(SCN4A):c.5282G>A (p.Ser1761Asn)
NM_000334.4(SCN4A):c.5284G>A (p.Gly1762Arg) rs763493738
NM_000334.4(SCN4A):c.5286G>C (p.Gly1762=) rs1249593659
NM_000334.4(SCN4A):c.5286G>T (p.Gly1762=)
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.5298T>C (p.Pro1766=)
NM_000334.4(SCN4A):c.529C>T (p.Leu177=)
NM_000334.4(SCN4A):c.52C>T (p.Arg18Cys) rs78592515
NM_000334.4(SCN4A):c.5308G>A (p.Gly1770Arg)
NM_000334.4(SCN4A):c.5316T>C (p.Leu1772=) rs1908503239
NM_000334.4(SCN4A):c.5319C>T (p.Ala1773=) rs746696835
NM_000334.4(SCN4A):c.532G>A (p.Ala178Thr)
NM_000334.4(SCN4A):c.5334G>T (p.Lys1778Asn) rs779474162
NM_000334.4(SCN4A):c.5340T>C (p.Tyr1780=) rs1038392410
NM_000334.4(SCN4A):c.5359A>C (p.Ser1787Arg) rs751841516
NM_000334.4(SCN4A):c.5359A>G (p.Ser1787Gly)
NM_000334.4(SCN4A):c.5361C>T (p.Ser1787=)
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.5403C>A (p.Ala1801=)
NM_000334.4(SCN4A):c.5409C>T (p.Pro1803=)
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.5442C>T (p.Asp1814=) rs2144772830
NM_000334.4(SCN4A):c.5448C>G (p.Ala1816=) rs754357879
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.5478T>A (p.Thr1826=) rs2227906
NM_000334.4(SCN4A):c.5479G>A (p.Val1827Met)
NM_000334.4(SCN4A):c.548T>G (p.Val183Gly)
NM_000334.4(SCN4A):c.5498A>T (p.Glu1833Val)
NM_000334.4(SCN4A):c.550G>A (p.Asp184Asn)
NM_000334.4(SCN4A):c.554A>T (p.Asp185Val)
NM_000334.4(SCN4A):c.55C>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)
NM_000334.4(SCN4A):c.[4468T>C;4479G>A]

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.