ClinVar Miner

List of variants in gene SCN1A studied for epilepsy

Included ClinVar conditions (438):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1905
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.2292T>C (p.Val764=) rs6432860 0.73885
NM_001165963.4(SCN1A):c.1212A>G (p.Val404=) rs7580482 0.66162
NM_001165963.4(SCN1A):c.603-91G>A rs3812718 0.47979
NM_001165963.4(SCN1A):c.2176+17A>G rs59251406 0.03846
NM_001165963.4(SCN1A):c.345T>C (p.Asn115=) rs61741123 0.03029
NM_001165963.4(SCN1A):c.1662+9C>A rs7559148 0.02030
NM_001165963.4(SCN1A):c.384-20G>C rs192956852 0.00635
NM_001165963.4(SCN1A):c.2177-10C>T rs199507113 0.00579
NM_001165963.4(SCN1A):c.1131A>C (p.Arg377=) rs114137271 0.00322
NM_001165963.4(SCN1A):c.2889T>C (p.Ala963=) rs144679294 0.00321
NM_001165963.4(SCN1A):c.1377+10C>T rs56112036 0.00248
NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln) rs121918817 0.00154
NM_001165963.4(SCN1A):c.68C>T (p.Ala23Val) rs139397227 0.00138
NM_001165963.4(SCN1A):c.1811G>A (p.Arg604His) rs121918769 0.00087
NM_001165963.4(SCN1A):c.2421C>T (p.Phe807=) rs145101180 0.00062
NM_001165963.4(SCN1A):c.1000C>G (p.Leu334Val) rs201870762 0.00030
NM_001165963.4(SCN1A):c.384-21T>A rs373168416 0.00026
NM_001165963.4(SCN1A):c.270T>C (p.Phe90=) rs1424456870 0.00020
NM_001165963.4(SCN1A):c.694+10A>G rs373417440 0.00019
NM_001165963.4(SCN1A):c.1710C>T (p.Ser570=) rs770432127 0.00018
NM_001165963.4(SCN1A):c.1378-3T>C rs150964803 0.00016
NM_001165963.4(SCN1A):c.1797G>A (p.Glu599=) rs145035963 0.00016
NM_001165963.4(SCN1A):c.1889G>A (p.Arg630Gln) rs145670933 0.00016
NM_001165963.4(SCN1A):c.1410C>T (p.Ser470=) rs142571794 0.00015
NM_001165963.4(SCN1A):c.1790C>A (p.Thr597Asn) rs149715258 0.00014
NM_001165963.4(SCN1A):c.2770G>A (p.Ala924Thr) rs141950573 0.00014
NM_001165963.4(SCN1A):c.579C>T (p.Leu193=) rs116478064 0.00014
NM_001165963.4(SCN1A):c.1080T>C (p.Tyr360=) rs371270088 0.00013
NM_001165963.4(SCN1A):c.1680T>C (p.Arg560=) rs145662732 0.00011
NM_001165963.4(SCN1A):c.1739G>A (p.Arg580Gln) rs544692790 0.00011
NM_001165963.4(SCN1A):c.379C>G (p.His127Asp) rs148442069 0.00011
NM_001165963.4(SCN1A):c.2811C>T (p.Phe937=) rs558678383 0.00010
NM_001165963.4(SCN1A):c.597A>G (p.Thr199=) rs398123600 0.00010
NM_001165963.4(SCN1A):c.1814G>C (p.Arg605Thr) rs374501252 0.00009
NM_001165963.4(SCN1A):c.1624C>A (p.Arg542=) rs138877187 0.00008
NM_001165963.4(SCN1A):c.2649C>T (p.Ile883=) rs543436497 0.00008
NM_001165963.4(SCN1A):c.2946+19T>C rs180873219 0.00008
NM_001165963.4(SCN1A):c.1810C>T (p.Arg604Cys) rs148371904 0.00007
NM_001165963.4(SCN1A):c.1170+16C>T rs377618565 0.00006
NM_001165963.4(SCN1A):c.1582A>T (p.Ser528Cys) rs372372558 0.00006
NM_001165963.4(SCN1A):c.1803C>T (p.Asn601=) rs139403702 0.00006
NM_001165963.4(SCN1A):c.2176+11A>C rs201604887 0.00006
NM_001165963.4(SCN1A):c.333A>G (p.Leu111=) rs201592683 0.00006
NM_001165963.4(SCN1A):c.695-18T>C rs199610378 0.00006
NM_001165963.4(SCN1A):c.80G>C (p.Arg27Thr) rs121917906 0.00006
NM_001165963.4(SCN1A):c.964+11T>C rs201531417 0.00006
NM_001165963.4(SCN1A):c.1343T>C (p.Ile448Thr) rs755962326 0.00005
NM_001165963.4(SCN1A):c.1440A>C (p.Ser480=) rs201383347 0.00005
NM_001165963.4(SCN1A):c.1457C>G (p.Ala486Gly) rs777120925 0.00005
NM_001165963.4(SCN1A):c.1499G>A (p.Arg500Gln) rs200176684 0.00005
NM_001165963.4(SCN1A):c.2057A>C (p.Glu686Ala) rs374767754 0.00005
NM_001165963.4(SCN1A):c.2094C>T (p.His698=) rs372260058 0.00005
NM_001165963.4(SCN1A):c.2125C>G (p.Gln709Glu) rs370037455 0.00005
NM_001165963.4(SCN1A):c.3060C>A (p.His1020Gln) rs150154265 0.00005
NM_001165963.4(SCN1A):c.69G>A (p.Ala23=) rs780729477 0.00005
NM_001165963.4(SCN1A):c.72T>C (p.Ala24=) rs922097254 0.00005
NM_001165963.4(SCN1A):c.132C>T (p.Asp44=) rs372758956 0.00004
NM_001165963.4(SCN1A):c.1604G>A (p.Arg535His) rs184524479 0.00004
NM_001165963.4(SCN1A):c.1770C>T (p.Phe590=) rs146520391 0.00004
NM_001165963.4(SCN1A):c.2590C>T (p.Leu864=) rs140035595 0.00004
NM_001165963.4(SCN1A):c.2926A>C (p.Met976Leu) rs773681556 0.00004
NM_001165963.4(SCN1A):c.2947-12G>A rs371041932 0.00004
NM_001165963.4(SCN1A):c.429G>A (p.Val143=) rs1050330603 0.00004
NM_001165963.4(SCN1A):c.720G>C (p.Leu240=) rs774487780 0.00004
NM_001165963.4(SCN1A):c.875T>C (p.Ile292Thr) rs766503699 0.00004
NM_001165963.4(SCN1A):c.1029-11C>G rs561758475 0.00003
NM_001165963.4(SCN1A):c.1065T>C (p.Gly355=) rs757535449 0.00003
NM_001165963.4(SCN1A):c.1220T>C (p.Ile407Thr) rs398123581 0.00003
NM_001165963.4(SCN1A):c.135C>G (p.Asp45Glu) rs201985242 0.00003
NM_001165963.4(SCN1A):c.136G>A (p.Glu46Lys) rs769582667 0.00003
NM_001165963.4(SCN1A):c.1388C>T (p.Thr463Met) rs752591998 0.00003
NM_001165963.4(SCN1A):c.144C>T (p.Gly48=) rs886043534 0.00003
NM_001165963.4(SCN1A):c.1663-17C>T rs753105591 0.00003
NM_001165963.4(SCN1A):c.1888C>T (p.Arg630Trp) rs565855062 0.00003
NM_001165963.4(SCN1A):c.2201G>A (p.Cys734Tyr) rs1247949520 0.00003
NM_001165963.4(SCN1A):c.2559A>C (p.Glu853Asp) rs764292628 0.00003
NM_001165963.4(SCN1A):c.2658C>T (p.Ser886=) rs776714907 0.00003
NM_001165963.4(SCN1A):c.3039A>G (p.Gln1013=) rs780391343 0.00003
NM_001165963.4(SCN1A):c.638C>T (p.Ser213Leu) rs754661378 0.00003
NM_001165963.4(SCN1A):c.717C>G (p.Ala239=) rs759923734 0.00003
NM_001165963.4(SCN1A):c.778G>A (p.Val260Ile) rs775591652 0.00003
NM_001165963.4(SCN1A):c.791T>C (p.Ile264Thr) rs745664511 0.00003
NM_001165963.4(SCN1A):c.859T>G (p.Leu287Val) rs138357595 0.00003
NM_001165963.4(SCN1A):c.890C>T (p.Thr297Ile) rs121918771 0.00003
NM_001165963.4(SCN1A):c.965-20G>A rs369517865 0.00003
NM_001165963.4(SCN1A):c.115C>A (p.Pro39Thr) rs968754992 0.00002
NM_001165963.4(SCN1A):c.1278C>T (p.Tyr426=) rs146515561 0.00002
NM_001165963.4(SCN1A):c.1389G>A (p.Thr463=) rs766100236 0.00002
NM_001165963.4(SCN1A):c.1641G>T (p.Lys547Asn) rs550770894 0.00002
NM_001165963.4(SCN1A):c.1652C>T (p.Ser551Phe) rs1396476288 0.00002
NM_001165963.4(SCN1A):c.1663-7C>T rs759815616 0.00002
NM_001165963.4(SCN1A):c.1882T>A (p.Ser628Thr) rs752639991 0.00002
NM_001165963.4(SCN1A):c.1911G>A (p.Ala637=) rs192102141 0.00002
NM_001165963.4(SCN1A):c.1980T>G (p.Pro660=) rs1379958414 0.00002
NM_001165963.4(SCN1A):c.2007A>G (p.Pro669=) rs993370830 0.00002
NM_001165963.4(SCN1A):c.2043+9G>A rs1389330683 0.00002
NM_001165963.4(SCN1A):c.2078G>T (p.Arg693Met) rs750260160 0.00002
NM_001165963.4(SCN1A):c.2085T>G (p.Ser695Arg) rs764865083 0.00002
NM_001165963.4(SCN1A):c.2177-15_2177-14insC rs762175641 0.00002
NM_001165963.4(SCN1A):c.2234T>G (p.Phe745Cys) rs778852888 0.00002
NM_001165963.4(SCN1A):c.2378C>T (p.Thr793Met) rs762038032 0.00002
NM_001165963.4(SCN1A):c.2552A>G (p.Asn851Ser) rs561912072 0.00002
NM_001165963.4(SCN1A):c.2577T>C (p.Arg859=) rs569598595 0.00002
NM_001165963.4(SCN1A):c.2587T>C (p.Leu863=) rs542026944 0.00002
NM_001165963.4(SCN1A):c.2715C>T (p.Ala905=) rs778280690 0.00002
NM_001165963.4(SCN1A):c.2716G>A (p.Val906Met) rs185760342 0.00002
NM_001165963.4(SCN1A):c.2838C>T (p.Arg946=) rs764174474 0.00002
NM_001165963.4(SCN1A):c.2947-7T>G rs913084871 0.00002
NM_001165963.4(SCN1A):c.3012T>C (p.Asp1004=) rs748537030 0.00002
NM_001165963.4(SCN1A):c.3044C>T (p.Ala1015Val) rs772487501 0.00002
NM_001165963.4(SCN1A):c.384-9A>G rs371926865 0.00002
NM_001165963.4(SCN1A):c.473+14A>G rs376301638 0.00002
NM_001165963.4(SCN1A):c.670T>C (p.Leu224=) rs764891727 0.00002
NM_001165963.4(SCN1A):c.765G>A (p.Val255=) rs377331238 0.00002
NM_001165963.4(SCN1A):c.777C>T (p.Ser259=) rs121918735 0.00002
NM_001165963.4(SCN1A):c.886A>G (p.Ile296Val) rs373772491 0.00002
NM_001165963.4(SCN1A):c.919G>A (p.Glu307Lys) rs1275890918 0.00002
NM_001165963.4(SCN1A):c.981G>A (p.Leu327=) rs758723150 0.00002
NM_001165963.4(SCN1A):c.1029-12C>T rs772513720 0.00001
NM_001165963.4(SCN1A):c.1032A>G (p.Gln344=) rs999958974 0.00001
NM_001165963.4(SCN1A):c.1040A>G (p.Glu347Gly) rs904247739 0.00001
NM_001165963.4(SCN1A):c.1049T>C (p.Met350Thr) rs1283627130 0.00001
NM_001165963.4(SCN1A):c.1054G>A (p.Val352Met) rs779188944 0.00001
NM_001165963.4(SCN1A):c.1107T>C (p.Ser369=) rs760220733 0.00001
NM_001165963.4(SCN1A):c.1170+3G>A rs1289808926 0.00001
NM_001165963.4(SCN1A):c.1171-19C>A rs929127955 0.00001
NM_001165963.4(SCN1A):c.1173A>G (p.Thr391=) rs766892870 0.00001
NM_001165963.4(SCN1A):c.1184C>T (p.Ala395Val) rs759121197 0.00001
NM_001165963.4(SCN1A):c.1193C>T (p.Thr398Met) rs774937055 0.00001
NM_001165963.4(SCN1A):c.1194G>A (p.Thr398=) rs753890879 0.00001
NM_001165963.4(SCN1A):c.1195T>C (p.Tyr399His) rs796052974 0.00001
NM_001165963.4(SCN1A):c.1225T>C (p.Leu409=) rs770033555 0.00001
NM_001165963.4(SCN1A):c.1248T>C (p.Asn416=) rs748267258 0.00001
NM_001165963.4(SCN1A):c.125A>C (p.Lys42Thr) rs760777182 0.00001
NM_001165963.4(SCN1A):c.1326C>T (p.Ala442=) rs753601387 0.00001
NM_001165963.4(SCN1A):c.1327G>A (p.Glu443Lys) rs1300925640 0.00001
NM_001165963.4(SCN1A):c.1360C>A (p.Gln454Lys) rs1465196014 0.00001
NM_001165963.4(SCN1A):c.1366G>C (p.Glu456Gln) rs1375242070 0.00001
NM_001165963.4(SCN1A):c.1377+16C>T rs1252711576 0.00001
NM_001165963.4(SCN1A):c.1378-10T>C rs777800447 0.00001
NM_001165963.4(SCN1A):c.1378-18C>A rs1434521938 0.00001
NM_001165963.4(SCN1A):c.1396G>A (p.Ala466Thr) rs762652516 0.00001
NM_001165963.4(SCN1A):c.1485G>T (p.Lys495Asn) rs201362569 0.00001
NM_001165963.4(SCN1A):c.1498C>T (p.Arg500Trp) rs141188608 0.00001
NM_001165963.4(SCN1A):c.1527G>A (p.Gln509=) rs147149558 0.00001
NM_001165963.4(SCN1A):c.1546G>A (p.Asp516Asn) rs757923791 0.00001
NM_001165963.4(SCN1A):c.1579G>A (p.Asp527Asn) rs1191091069 0.00001
NM_001165963.4(SCN1A):c.1603C>T (p.Arg535Cys) rs761062389 0.00001
NM_001165963.4(SCN1A):c.1620G>C (p.Gly540=) rs1417472613 0.00001
NM_001165963.4(SCN1A):c.1627T>C (p.Leu543=) rs200951734 0.00001
NM_001165963.4(SCN1A):c.1663-3T>C rs766418091 0.00001
NM_001165963.4(SCN1A):c.1668G>T (p.Leu556Phe) rs762975379 0.00001
NM_001165963.4(SCN1A):c.1678C>T (p.Arg560Cys) rs768764142 0.00001
NM_001165963.4(SCN1A):c.1679G>A (p.Arg560His) rs746769373 0.00001
NM_001165963.4(SCN1A):c.1703G>A (p.Arg568Gln) rs794727025 0.00001
NM_001165963.4(SCN1A):c.1706A>G (p.Asn569Ser) rs796052978 0.00001
NM_001165963.4(SCN1A):c.1753G>C (p.Gly585Arg) rs753050564 0.00001
NM_001165963.4(SCN1A):c.1757C>T (p.Ser586Phe) rs1697487602 0.00001
NM_001165963.4(SCN1A):c.1767C>T (p.Asp589=) rs367613290 0.00001
NM_001165963.4(SCN1A):c.1779T>G (p.Asp593Glu) rs1201949487 0.00001
NM_001165963.4(SCN1A):c.1818T>C (p.Asp606=) rs727504141 0.00001
NM_001165963.4(SCN1A):c.1827T>C (p.Phe609=) rs769310645 0.00001
NM_001165963.4(SCN1A):c.1835G>A (p.Arg612Gln) rs1060502184 0.00001
NM_001165963.4(SCN1A):c.1842C>T (p.His614=) rs370463183 0.00001
NM_001165963.4(SCN1A):c.1845A>G (p.Gly615=) rs758615134 0.00001
NM_001165963.4(SCN1A):c.1852C>T (p.Arg618Cys) rs750516202 0.00001
NM_001165963.4(SCN1A):c.1872G>A (p.Gln624=) rs1256209754 0.00001
NM_001165963.4(SCN1A):c.1875C>T (p.Thr625=) rs1423227098 0.00001
NM_001165963.4(SCN1A):c.187T>C (p.Phe63Leu) rs121917907 0.00001
NM_001165963.4(SCN1A):c.1881G>A (p.Arg627=) rs376049002 0.00001
NM_001165963.4(SCN1A):c.1891A>G (p.Met631Val) rs1336507340 0.00001
NM_001165963.4(SCN1A):c.1895T>A (p.Leu632Gln) rs201987598 0.00001
NM_001165963.4(SCN1A):c.18T>G (p.Leu6=) rs1553561004 0.00001
NM_001165963.4(SCN1A):c.1910C>T (p.Ala637Val) rs1266240114 0.00001
NM_001165963.4(SCN1A):c.1928G>A (p.Ser643Asn) rs369178649 0.00001
NM_001165963.4(SCN1A):c.1932T>C (p.Thr644=) rs769257218 0.00001
NM_001165963.4(SCN1A):c.1933G>T (p.Val645Leu) rs747681959 0.00001
NM_001165963.4(SCN1A):c.1969C>A (p.Pro657Thr) rs747395931 0.00001
NM_001165963.4(SCN1A):c.1982C>T (p.Thr661Ile) rs780340848 0.00001
NM_001165963.4(SCN1A):c.2006C>T (p.Pro669Leu) rs570326929 0.00001
NM_001165963.4(SCN1A):c.2018T>C (p.Ile673Thr) rs1315723631 0.00001
NM_001165963.4(SCN1A):c.203T>C (p.Ile68Thr) rs758871507 0.00001
NM_001165963.4(SCN1A):c.2043+20T>A rs760034595 0.00001
NM_001165963.4(SCN1A):c.2043T>C (p.Asn681=) rs754934003 0.00001
NM_001165963.4(SCN1A):c.2044-20A>G rs777660738 0.00001
NM_001165963.4(SCN1A):c.2102T>G (p.Met701Arg) rs763445773 0.00001
NM_001165963.4(SCN1A):c.2135G>A (p.Arg712Gln) rs138799232 0.00001
NM_001165963.4(SCN1A):c.2143A>C (p.Ser715Arg) rs1349978357 0.00001
NM_001165963.4(SCN1A):c.2145T>C (p.Ser715=) rs772751252 0.00001
NM_001165963.4(SCN1A):c.2177-10dup rs774232184 0.00001
NM_001165963.4(SCN1A):c.2202C>T (p.Cys734=) rs1454284939 0.00001
NM_001165963.4(SCN1A):c.2215T>C (p.Tyr739His) rs768736409 0.00001
NM_001165963.4(SCN1A):c.2236T>C (p.Leu746=) rs753714341 0.00001
NM_001165963.4(SCN1A):c.2240T>C (p.Ile747Thr) rs980156920 0.00001
NM_001165963.4(SCN1A):c.228C>G (p.Pro76=) rs1173774565 0.00001
NM_001165963.4(SCN1A):c.2294T>C (p.Val765Ala) rs1302724105 0.00001
NM_001165963.4(SCN1A):c.2353A>T (p.Met785Leu) rs767045134 0.00001
NM_001165963.4(SCN1A):c.2369A>T (p.Tyr790Phe) rs121918782 0.00001
NM_001165963.4(SCN1A):c.2379G>A (p.Thr793=) rs776842943 0.00001
NM_001165963.4(SCN1A):c.2416-10T>G rs1696892038 0.00001
NM_001165963.4(SCN1A):c.2451G>C (p.Leu817=) rs1304400552 0.00001
NM_001165963.4(SCN1A):c.2468A>G (p.Asp823Gly) rs1035633632 0.00001
NM_001165963.4(SCN1A):c.2474A>C (p.Tyr825Ser) rs780963881 0.00001
NM_001165963.4(SCN1A):c.2477A>G (p.Tyr826Cys) rs1422284356 0.00001
NM_001165963.4(SCN1A):c.2486A>T (p.Gln829Leu) rs1299251889 0.00001
NM_001165963.4(SCN1A):c.2508C>T (p.Asp836=) rs575554223 0.00001
NM_001165963.4(SCN1A):c.2509G>A (p.Gly837Ser) rs779561135 0.00001
NM_001165963.4(SCN1A):c.2520G>T (p.Val840=) rs757851017 0.00001
NM_001165963.4(SCN1A):c.2522C>T (p.Thr841Met) rs750901301 0.00001
NM_001165963.4(SCN1A):c.2523G>A (p.Thr841=) rs1165918262 0.00001
NM_001165963.4(SCN1A):c.2547C>T (p.Leu849=) rs147360576 0.00001
NM_001165963.4(SCN1A):c.2551A>G (p.Asn851Asp) rs1450206187 0.00001
NM_001165963.4(SCN1A):c.2576G>A (p.Arg859His) rs398123588 0.00001
NM_001165963.4(SCN1A):c.257A>G (p.Asn86Ser) rs1004366186 0.00001
NM_001165963.4(SCN1A):c.2589+12_2589+13insC rs779108974 0.00001
NM_001165963.4(SCN1A):c.2593C>A (p.Arg865=) rs794726697 0.00001
NM_001165963.4(SCN1A):c.25C>G (p.Pro9Ala) rs757688309 0.00001
NM_001165963.4(SCN1A):c.264+20C>T rs1254193559 0.00001
NM_001165963.4(SCN1A):c.264+8T>G rs1433805634 0.00001
NM_001165963.4(SCN1A):c.264A>C (p.Lys88Asn) rs1025532519 0.00001
NM_001165963.4(SCN1A):c.265-14T>C rs765088995 0.00001
NM_001165963.4(SCN1A):c.265-4A>G rs776470979 0.00001
NM_001165963.4(SCN1A):c.2655T>C (p.Asn885=) rs1696668881 0.00001
NM_001165963.4(SCN1A):c.2659G>A (p.Val887Met) rs368663649 0.00001
NM_001165963.4(SCN1A):c.2686G>A (p.Val896Ile) rs745378416 0.00001
NM_001165963.4(SCN1A):c.2701G>A (p.Val901Ile) rs12617205 0.00001
NM_001165963.4(SCN1A):c.2721C>T (p.Val907=) rs748504238 0.00001
NM_001165963.4(SCN1A):c.2784A>C (p.Gln928His) rs138376436 0.00001
NM_001165963.4(SCN1A):c.2841G>A (p.Val947=) rs760484751 0.00001
NM_001165963.4(SCN1A):c.2877T>C (p.Cys959=) rs775214722 0.00001
NM_001165963.4(SCN1A):c.2898C>T (p.Ala966=) rs774054004 0.00001
NM_001165963.4(SCN1A):c.2911G>A (p.Val971Ile) rs748816300 0.00001
NM_001165963.4(SCN1A):c.3018T>G (p.Asp1006Glu) rs375909896 0.00001
NM_001165963.4(SCN1A):c.3074A>T (p.Tyr1025Phe) rs752532497 0.00001
NM_001165963.4(SCN1A):c.32C>A (p.Pro11His) rs1350460260 0.00001
NM_001165963.4(SCN1A):c.366T>C (p.Ile122=) rs752918105 0.00001
NM_001165963.4(SCN1A):c.384-15T>C rs1172183466 0.00001
NM_001165963.4(SCN1A):c.384-19T>C rs1467239671 0.00001
NM_001165963.4(SCN1A):c.384-3T>C rs368381487 0.00001
NM_001165963.4(SCN1A):c.413T>G (p.Ile138Ser) rs1553552390 0.00001
NM_001165963.4(SCN1A):c.418A>G (p.Thr140Ala) rs796052956 0.00001
NM_001165963.4(SCN1A):c.452C>T (p.Pro151Leu) rs1699141193 0.00001
NM_001165963.4(SCN1A):c.473+9A>C rs571963052 0.00001
NM_001165963.4(SCN1A):c.558T>C (p.Leu186=) rs539168834 0.00001
NM_001165963.4(SCN1A):c.559C>T (p.Arg187Trp) rs1419611654 0.00001
NM_001165963.4(SCN1A):c.560G>A (p.Arg187Gln) rs777631884 0.00001
NM_001165963.4(SCN1A):c.603-6T>C rs376845691 0.00001
NM_001165963.4(SCN1A):c.606C>T (p.Tyr202=) rs374555589 0.00001
NM_001165963.4(SCN1A):c.607G>A (p.Val203Ile) rs569880910 0.00001
NM_001165963.4(SCN1A):c.639G>A (p.Ser213=) rs200975276 0.00001
NM_001165963.4(SCN1A):c.643T>C (p.Leu215=) rs779837260 0.00001
NM_001165963.4(SCN1A):c.652T>C (p.Phe218Leu) rs970867558 0.00001
NM_001165963.4(SCN1A):c.661C>G (p.Leu221Val) rs886039456 0.00001
NM_001165963.4(SCN1A):c.678G>A (p.Thr226=) rs571355844 0.00001
NM_001165963.4(SCN1A):c.694+9A>G rs754260524 0.00001
NM_001165963.4(SCN1A):c.746A>G (p.Asp249Gly) rs762927460 0.00001
NM_001165963.4(SCN1A):c.821G>A (p.Arg274Lys) rs1285055471 0.00001
NM_001165963.4(SCN1A):c.82C>T (p.Arg28Cys) rs754032480 0.00001
NM_001165963.4(SCN1A):c.837A>G (p.Gln279=) rs778654049 0.00001
NM_001165963.4(SCN1A):c.83G>A (p.Arg28His) rs398123601 0.00001
NM_001165963.4(SCN1A):c.846C>A (p.Pro282=) rs1352832546 0.00001
NM_001165963.4(SCN1A):c.853G>T (p.Ala285Ser) rs777386001 0.00001
NM_001165963.4(SCN1A):c.870T>C (p.His290=) rs755274788 0.00001
NM_001165963.4(SCN1A):c.879A>C (p.Glu293Asp) rs1457806589 0.00001
NM_001165963.4(SCN1A):c.892G>A (p.Val298Met) rs772149865 0.00001
NM_001165963.4(SCN1A):c.90A>G (p.Ala30=) rs750748658 0.00001
NM_001165963.4(SCN1A):c.97A>G (p.Lys33Glu) rs375913842 0.00001
NC_000002.11:g.(?_166847735)_(166852647_?)del
NC_000002.11:g.(?_166847755)_(166872257_?)del
NC_000002.11:g.(?_166847755)_(166872257_?)dup
NC_000002.11:g.(?_166847755)_(166898954_?)del
NC_000002.11:g.(?_166847755)_(166930131_?)dup
NC_000002.11:g.(?_166847793)_(166847921_?)dup
NC_000002.11:g.(?_166847976)_(166851014_?)del
NC_000002.11:g.(?_166852503)_(166856306_?)del
NC_000002.11:g.(?_166852724)_(166856279_?)del
NC_000002.11:g.(?_166854528)_(166854705_?)del
NC_000002.11:g.(?_166856213)_(166868812_?)dup
NC_000002.11:g.(?_166858962)_(166859283_?)del
NC_000002.11:g.(?_166859045)_(166864276_?)del
NC_000002.11:g.(?_166868599)_(166900579_?)del
NC_000002.11:g.(?_166894266)_(166894662_?)del
NC_000002.11:g.(?_166897721)_(166897999_?)del
NC_000002.11:g.(?_166897758)_(166901790_?)del
NC_000002.11:g.(?_166900200)_166907805del
NC_000002.11:g.(?_166905376)_(166905479_?)del
NC_000002.11:g.(?_166907827)_(166909401_?)del
NC_000002.11:g.(?_166908209)_(166909544_?)del
NC_000002.11:g.(?_166908336)_(166920943_?)del
NC_000002.11:g.(?_166909342)_(166913030_?)del
NC_000002.11:g.(?_166909397)_(166913500_?)del
NC_000002.11:g.(?_166915060)_(166915218_?)del
NC_000002.12:g.(?_165991225)_(166041489_?)del
NC_000002.12:g.(?_165991225)_(166048969_?)del
NC_000002.12:g.(?_165991225)_(166073641_?)del
NC_000002.12:g.(?_165995993)_(165998195_?)del
NC_000002.12:g.(?_165995993)_(166073641_?)del
NC_000002.12:g.(?_166009699)_(166015748_?)del
NC_000002.12:g.(?_166036028)_(166039616_?)dup
NC_000002.12:g.(?_166042272)_(166044069_?)del
NC_000002.12:g.(?_166052832)_(166053034_?)del
NC_000002.12:g.(?_166073338)_(166073641_?)del
NM_001165963.1(SCN1A):c.384_964del
NM_001165963.1(SCN1A):c.4285_4476del
NM_001165963.1:c.(3429+1_3430-1)_(4002+1_4003-1)del
NM_001165963.4(SCN1A):c.-142G>A rs2106003538
NM_001165963.4(SCN1A):c.1001T>C (p.Leu334Pro) rs1559231284
NM_001165963.4(SCN1A):c.1003C>T (p.Leu335=) rs2105874226
NM_001165963.4(SCN1A):c.1005del (p.Cys336fs)
NM_001165963.4(SCN1A):c.1006T>C (p.Cys336Arg)
NM_001165963.4(SCN1A):c.1007G>A (p.Cys336Tyr) rs794726798
NM_001165963.4(SCN1A):c.1008T>A (p.Cys336Ter) rs1553548096
NM_001165963.4(SCN1A):c.1008T>G (p.Cys336Trp) rs1553548096
NM_001165963.4(SCN1A):c.100G>A (p.Ala34Thr)
NM_001165963.4(SCN1A):c.1010G>C (p.Gly337Ala) rs1698176171
NM_001165963.4(SCN1A):c.1012A>T (p.Asn338Tyr)
NM_001165963.4(SCN1A):c.1018T>C (p.Ser340Pro) rs2105874088
NM_001165963.4(SCN1A):c.1019C>A (p.Ser340Tyr) rs2105874070
NM_001165963.4(SCN1A):c.1019C>T (p.Ser340Phe)
NM_001165963.4(SCN1A):c.1024G>T (p.Ala342Ser) rs794726843
NM_001165963.4(SCN1A):c.1025C>A (p.Ala342Glu) rs794726797
NM_001165963.4(SCN1A):c.1025C>T (p.Ala342Val) rs794726797
NM_001165963.4(SCN1A):c.1027G>A (p.Gly343Ser) rs1553548063
NM_001165963.4(SCN1A):c.1028+13T>A
NM_001165963.4(SCN1A):c.1028+1G>A rs863225030
NM_001165963.4(SCN1A):c.1028+1G>T rs863225030
NM_001165963.4(SCN1A):c.1028+1del rs886041980
NM_001165963.4(SCN1A):c.1028+2T>C rs1698170849
NM_001165963.4(SCN1A):c.1028+6T>C rs1277925945
NM_001165963.4(SCN1A):c.1028G>A (p.Gly343Asp) rs121918753
NM_001165963.4(SCN1A):c.1028G>C (p.Gly343Ala) rs121918753
NM_001165963.4(SCN1A):c.1029-15T>C rs2105868517
NM_001165963.4(SCN1A):c.1029-3C>T
NM_001165963.4(SCN1A):c.1029-4G>A
NM_001165963.4(SCN1A):c.1029-4G>T rs1225581069
NM_001165963.4(SCN1A):c.1029-5T>G rs2105868433
NM_001165963.4(SCN1A):c.1029-7C>A rs1698033637
NM_001165963.4(SCN1A):c.1029-7C>G
NM_001165963.4(SCN1A):c.1029C>G (p.Gly343=) rs1698032277
NM_001165963.4(SCN1A):c.102A>G (p.Ala34=)
NM_001165963.4(SCN1A):c.1030C>T (p.Gln344Ter)
NM_001165963.4(SCN1A):c.1033T>A (p.Cys345Ser)
NM_001165963.4(SCN1A):c.1033T>C (p.Cys345Arg) rs794726782
NM_001165963.4(SCN1A):c.1034G>C (p.Cys345Ser)
NM_001165963.4(SCN1A):c.1034G>T (p.Cys345Phe) rs1057518243
NM_001165963.4(SCN1A):c.1035_1038dup (p.Glu347fs)
NM_001165963.4(SCN1A):c.1036C>T (p.Pro346Ser) rs2105868306
NM_001165963.4(SCN1A):c.1037C>A (p.Pro346Gln)
NM_001165963.4(SCN1A):c.1037C>T (p.Pro346Leu) rs2105868295
NM_001165963.4(SCN1A):c.1038A>G (p.Pro346=) rs1374190185
NM_001165963.4(SCN1A):c.1039G>A (p.Glu347Lys)
NM_001165963.4(SCN1A):c.1042G>A (p.Gly348Arg)
NM_001165963.4(SCN1A):c.1042G>C (p.Gly348Arg)
NM_001165963.4(SCN1A):c.1042G>T (p.Gly348Ter)
NM_001165963.4(SCN1A):c.1043G>C (p.Gly348Ala)
NM_001165963.4(SCN1A):c.1043G>T (p.Gly348Val) rs2105868181
NM_001165963.4(SCN1A):c.1044A>T (p.Gly348=)
NM_001165963.4(SCN1A):c.1046A>G (p.Tyr349Cys) rs794726844
NM_001165963.4(SCN1A):c.1047T>A (p.Tyr349Ter)
NM_001165963.4(SCN1A):c.1047T>C (p.Tyr349=)
NM_001165963.4(SCN1A):c.1047T>G (p.Tyr349Ter) rs1369404945
NM_001165963.4(SCN1A):c.1047dup (p.Met350fs)
NM_001165963.4(SCN1A):c.1048A>G (p.Met350Val) rs794726768
NM_001165963.4(SCN1A):c.1048_1049dup (p.Met350fs)
NM_001165963.4(SCN1A):c.1048_1051del (p.Met350fs) rs2105868028
NM_001165963.4(SCN1A):c.1049T>A (p.Met350Lys) rs1283627130
NM_001165963.4(SCN1A):c.1051T>A (p.Cys351Ser) rs2105868016
NM_001165963.4(SCN1A):c.1051T>G (p.Cys351Gly)
NM_001165963.4(SCN1A):c.1052G>C (p.Cys351Ser) rs2105867993
NM_001165963.4(SCN1A):c.1055_1056del (p.Val352fs) rs794726767
NM_001165963.4(SCN1A):c.1060G>C (p.Ala354Pro) rs1698022280
NM_001165963.4(SCN1A):c.1064G>A (p.Gly355Asp)
NM_001165963.4(SCN1A):c.1064G>T (p.Gly355Val) rs1698021918
NM_001165963.4(SCN1A):c.1065T>A (p.Gly355=)
NM_001165963.4(SCN1A):c.1066A>G (p.Arg356Gly) rs121917920
NM_001165963.4(SCN1A):c.1072C>A (p.Pro358Thr) rs121917923
NM_001165963.4(SCN1A):c.1072C>G (p.Pro358Ala) rs121917923
NM_001165963.4(SCN1A):c.1072C>T (p.Pro358Ser) rs121917923
NM_001165963.4(SCN1A):c.1076A>G (p.Asn359Ser) rs794726713
NM_001165963.4(SCN1A):c.1077T>A (p.Asn359Lys) rs1574240716
NM_001165963.4(SCN1A):c.1081G>A (p.Gly361Ser)
NM_001165963.4(SCN1A):c.1081G>T (p.Gly361Cys)
NM_001165963.4(SCN1A):c.1082G>A (p.Gly361Asp) rs1553547528
NM_001165963.4(SCN1A):c.1082_1092del (p.Gly361fs) rs2105867534
NM_001165963.4(SCN1A):c.1085A>G (p.Tyr362Cys)
NM_001165963.4(SCN1A):c.1087A>C (p.Thr363Pro) rs1131691465
NM_001165963.4(SCN1A):c.1088C>A (p.Thr363Lys)
NM_001165963.4(SCN1A):c.1091G>A (p.Ser364Asn)
NM_001165963.4(SCN1A):c.1091G>C (p.Ser364Thr) rs752775574
NM_001165963.4(SCN1A):c.1094T>C (p.Phe365Ser) rs1553547493
NM_001165963.4(SCN1A):c.1095T>C (p.Phe365=)
NM_001165963.4(SCN1A):c.1096G>C (p.Asp366His) rs750209664
NM_001165963.4(SCN1A):c.1096_1115del (p.Asp366fs) rs794726792
NM_001165963.4(SCN1A):c.1098T>A (p.Asp366Glu) rs121917958
NM_001165963.4(SCN1A):c.109C>A (p.Pro37Thr) rs1468825512
NM_001165963.4(SCN1A):c.1100C>T (p.Thr367Ile) rs1698011519
NM_001165963.4(SCN1A):c.1101C>T (p.Thr367=)
NM_001165963.4(SCN1A):c.1108T>A (p.Trp370Arg)
NM_001165963.4(SCN1A):c.1109G>A (p.Trp370Ter) rs2105867367
NM_001165963.4(SCN1A):c.110C>A (p.Pro37His)
NM_001165963.4(SCN1A):c.1110G>T (p.Trp370Cys)
NM_001165963.4(SCN1A):c.1111G>C (p.Ala371Pro) rs1698009615
NM_001165963.4(SCN1A):c.1117T>G (p.Leu373Val) rs1698008539
NM_001165963.4(SCN1A):c.1118T>C (p.Leu373Ser) rs1553547448
NM_001165963.4(SCN1A):c.1118del (p.Leu373fs) rs794726695
NM_001165963.4(SCN1A):c.1118dup (p.Leu373fs) rs794726695
NM_001165963.4(SCN1A):c.1120T>C (p.Ser374Pro)
NM_001165963.4(SCN1A):c.1121C>A (p.Ser374Tyr) rs1698007004
NM_001165963.4(SCN1A):c.1129C>T (p.Arg377Ter) rs794726799
NM_001165963.4(SCN1A):c.1130G>A (p.Arg377Gln) rs121917957
NM_001165963.4(SCN1A):c.1130G>C (p.Arg377Pro)
NM_001165963.4(SCN1A):c.1130_1131delinsAC (p.Arg377His)
NM_001165963.4(SCN1A):c.1132C>T (p.Leu378=)
NM_001165963.4(SCN1A):c.1133T>A (p.Leu378Gln) rs1698003832
NM_001165963.4(SCN1A):c.1133T>C (p.Leu378Pro) rs1698003832
NM_001165963.4(SCN1A):c.1133del (p.Leu378fs) rs1698004184
NM_001165963.4(SCN1A):c.1134A>G (p.Leu378=) rs2105867022
NM_001165963.4(SCN1A):c.1134_1136del (p.Met379del) rs2105867004
NM_001165963.4(SCN1A):c.1134_1140del (p.Met379fs)
NM_001165963.4(SCN1A):c.1136T>A (p.Met379Lys) rs794726732
NM_001165963.4(SCN1A):c.1139C>T (p.Thr380Ile)
NM_001165963.4(SCN1A):c.1141C>A (p.Gln381Lys) rs1553547403
NM_001165963.4(SCN1A):c.1142A>G (p.Gln381Arg)
NM_001165963.4(SCN1A):c.1144G>A (p.Asp382Asn) rs1698002491
NM_001165963.4(SCN1A):c.1146C>A (p.Asp382Glu) rs794726753
NM_001165963.4(SCN1A):c.1149C>A (p.Phe383Leu) rs121917939
NM_001165963.4(SCN1A):c.1149C>G (p.Phe383Leu) rs121917939
NM_001165963.4(SCN1A):c.114A>G (p.Lys38=)
NM_001165963.4(SCN1A):c.1150T>A (p.Trp384Arg) rs1057523858
NM_001165963.4(SCN1A):c.1150T>C (p.Trp384Arg)
NM_001165963.4(SCN1A):c.1150T>G (p.Trp384Gly)
NM_001165963.4(SCN1A):c.1151G>C (p.Trp384Ser) rs1553547380
NM_001165963.4(SCN1A):c.1152G>A (p.Trp384Ter)
NM_001165963.4(SCN1A):c.1153G>A (p.Glu385Lys) rs796052972
NM_001165963.4(SCN1A):c.1153G>C (p.Glu385Gln) rs796052972
NM_001165963.4(SCN1A):c.1154A>C (p.Glu385Ala) rs1697999557
NM_001165963.4(SCN1A):c.1158T>G (p.Asn386Lys)
NM_001165963.4(SCN1A):c.1160T>C (p.Leu387Pro) rs1697998959
NM_001165963.4(SCN1A):c.1162T>C (p.Tyr388His) rs121918781
NM_001165963.4(SCN1A):c.1163A>G (p.Tyr388Cys) rs1697998080
NM_001165963.4(SCN1A):c.1164T>A (p.Tyr388Ter) rs2105866649
NM_001165963.4(SCN1A):c.1164delinsGG (p.Tyr388Ter) rs1697997770
NM_001165963.4(SCN1A):c.1166A>C (p.Gln389Pro) rs2105866610
NM_001165963.4(SCN1A):c.1167A>G (p.Gln389=)
NM_001165963.4(SCN1A):c.1169T>C (p.Leu390Pro) rs746413385
NM_001165963.4(SCN1A):c.1170+1G>A rs794726765
NM_001165963.4(SCN1A):c.1170+1G>C rs794726765
NM_001165963.4(SCN1A):c.1170+1G>T rs794726765
NM_001165963.4(SCN1A):c.1170+3_1170+4delinsTT rs2105866527
NM_001165963.4(SCN1A):c.1170+5G>A rs1057524737
NM_001165963.4(SCN1A):c.1170+5G>C rs1057524737
NM_001165963.4(SCN1A):c.1170+5G>T rs1057524737
NM_001165963.4(SCN1A):c.1170+9T>C rs2105866448
NM_001165963.4(SCN1A):c.1170G>A (p.Leu390=) rs1697996396
NM_001165963.4(SCN1A):c.1171-10_1171-9del rs372840031
NM_001165963.4(SCN1A):c.1171-18T>A
NM_001165963.4(SCN1A):c.1171-1G>A
NM_001165963.4(SCN1A):c.1171-20T>C
NM_001165963.4(SCN1A):c.1171-20T>G
NM_001165963.4(SCN1A):c.1171-3C>T
NM_001165963.4(SCN1A):c.1171-4G>A
NM_001165963.4(SCN1A):c.1171-6T>C
NM_001165963.4(SCN1A):c.1171-8G>C
NM_001165963.4(SCN1A):c.1171A>T (p.Thr391Ser) rs1697917375
NM_001165963.4(SCN1A):c.1175T>C (p.Leu392Ser) rs2105862926
NM_001165963.4(SCN1A):c.1175T>G (p.Leu392Ter)
NM_001165963.4(SCN1A):c.1177C>A (p.Arg393Ser) rs121917929
NM_001165963.4(SCN1A):c.1177C>G (p.Arg393Gly)
NM_001165963.4(SCN1A):c.1177C>T (p.Arg393Cys) rs121917929
NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His) rs121917927
NM_001165963.4(SCN1A):c.1178G>C (p.Arg393Pro) rs121917927
NM_001165963.4(SCN1A):c.1178delinsTTAC (p.Arg393delinsLeuThr)
NM_001165963.4(SCN1A):c.117A>T (p.Pro39=)
NM_001165963.4(SCN1A):c.1181C>T (p.Ala394Val) rs2105862847
NM_001165963.4(SCN1A):c.1181_1182delinsGA (p.Ala394Gly) rs1559226096
NM_001165963.4(SCN1A):c.1182_1183insA (p.Ala395fs) rs794726777
NM_001165963.4(SCN1A):c.1183G>C (p.Ala395Pro) rs121917988
NM_001165963.4(SCN1A):c.1183_1184del (p.Ala395fs) rs794726776
NM_001165963.4(SCN1A):c.1184C>A (p.Ala395Asp)
NM_001165963.4(SCN1A):c.1184C>G (p.Ala395Gly)
NM_001165963.4(SCN1A):c.1186G>A (p.Gly396Arg)
NM_001165963.4(SCN1A):c.1187G>A (p.Gly396Glu)
NM_001165963.4(SCN1A):c.1189A>G (p.Lys397Glu)
NM_001165963.4(SCN1A):c.118G>A (p.Asp40Asn) rs1574373061
NM_001165963.4(SCN1A):c.1192dup (p.Thr398fs)
NM_001165963.4(SCN1A):c.1197_1198del (p.Met400fs) rs794726818
NM_001165963.4(SCN1A):c.1198A>G (p.Met400Val)
NM_001165963.4(SCN1A):c.1199T>A (p.Met400Lys) rs794726725
NM_001165963.4(SCN1A):c.1199T>C (p.Met400Thr) rs794726725
NM_001165963.4(SCN1A):c.1199dup (p.Met400fs) rs2105862581
NM_001165963.4(SCN1A):c.119A>G (p.Asp40Gly) rs1684688433
NM_001165963.4(SCN1A):c.11C>T (p.Thr4Ile)
NM_001165963.4(SCN1A):c.1201A>G (p.Ile401Val) rs1697908394
NM_001165963.4(SCN1A):c.1203_1205del (p.Phe403del) rs2105862483
NM_001165963.4(SCN1A):c.1204T>A (p.Phe402Ile) rs796053094
NM_001165963.4(SCN1A):c.1205T>G (p.Phe402Cys)
NM_001165963.4(SCN1A):c.1206T>A (p.Phe402Leu)
NM_001165963.4(SCN1A):c.1207T>C (p.Phe403Leu) rs121917966
NM_001165963.4(SCN1A):c.1210del (p.Val404fs)
NM_001165963.4(SCN1A):c.1216G>T (p.Val406Phe) rs121918768
NM_001165963.4(SCN1A):c.1216_1217insGC (p.Val406fs)
NM_001165963.4(SCN1A):c.1217T>C (p.Val406Ala)
NM_001165963.4(SCN1A):c.121A>T (p.Lys41Ter) rs764444350
NM_001165963.4(SCN1A):c.1220T>A (p.Ile407Asn) rs398123581
NM_001165963.4(SCN1A):c.1223del (p.Phe408fs)
NM_001165963.4(SCN1A):c.1228G>C (p.Gly410Arg) rs1574235136
NM_001165963.4(SCN1A):c.1229G>T (p.Gly410Val) rs1697904829
NM_001165963.4(SCN1A):c.1229del (p.Gly410fs)
NM_001165963.4(SCN1A):c.1230C>A (p.Gly410=) rs2105862320
NM_001165963.4(SCN1A):c.1232C>T (p.Ser411Leu)
NM_001165963.4(SCN1A):c.1234T>C (p.Phe412Leu)
NM_001165963.4(SCN1A):c.1234T>G (p.Phe412Val)
NM_001165963.4(SCN1A):c.1237T>A (p.Tyr413Asn) rs121917967
NM_001165963.4(SCN1A):c.1239C>A (p.Tyr413Ter)
NM_001165963.4(SCN1A):c.1240C>T (p.Leu414=) rs1330025518
NM_001165963.4(SCN1A):c.1244T>A (p.Ile415Lys)
NM_001165963.4(SCN1A):c.1244T>C (p.Ile415Thr)
NM_001165963.4(SCN1A):c.1247A>G (p.Asn416Ser) rs2105862220
NM_001165963.4(SCN1A):c.1248T>A (p.Asn416Lys) rs748267258
NM_001165963.4(SCN1A):c.1253T>C (p.Ile418Thr) rs1697902111
NM_001165963.4(SCN1A):c.1255C>T (p.Leu419=)
NM_001165963.4(SCN1A):c.1258G>C (p.Ala420Pro) rs2105862170
NM_001165963.4(SCN1A):c.1259C>A (p.Ala420Asp) rs794726826
NM_001165963.4(SCN1A):c.1259C>T (p.Ala420Val) rs794726826
NM_001165963.4(SCN1A):c.1261G>A (p.Val421Met) rs781507889
NM_001165963.4(SCN1A):c.1264G>A (p.Val422Met) rs886042528
NM_001165963.4(SCN1A):c.1264G>T (p.Val422Leu) rs886042528
NM_001165963.4(SCN1A):c.1265T>A (p.Val422Glu) rs121917989
NM_001165963.4(SCN1A):c.1265T>C (p.Val422Ala) rs121917989
NM_001165963.4(SCN1A):c.1269del (p.Met424fs) rs1559225495
NM_001165963.4(SCN1A):c.126_128delinsCC (p.Lys42fs) rs2105983330
NM_001165963.4(SCN1A):c.126del (p.Asp43fs) rs1553560831
NM_001165963.4(SCN1A):c.126dup (p.Asp43fs) rs1553560831
NM_001165963.4(SCN1A):c.1271T>C (p.Met424Thr) rs1574234690
NM_001165963.4(SCN1A):c.1272G>A (p.Met424Ile) rs1697897988
NM_001165963.4(SCN1A):c.1274C>T (p.Ala425Val) rs1697897304
NM_001165963.4(SCN1A):c.1276T>A (p.Tyr426Asn) rs121917940
NM_001165963.4(SCN1A):c.1276T>C (p.Tyr426His)
NM_001165963.4(SCN1A):c.1277A>G (p.Tyr426Cys) rs796052973
NM_001165963.4(SCN1A):c.1278C>A (p.Tyr426Ter) rs146515561
NM_001165963.4(SCN1A):c.1278C>G (p.Tyr426Ter) rs146515561
NM_001165963.4(SCN1A):c.1278_1279delinsAA (p.Tyr426_Glu427delinsTer)
NM_001165963.4(SCN1A):c.127G>C (p.Asp43His)
NM_001165963.4(SCN1A):c.1285C>A (p.Gln429Lys)
NM_001165963.4(SCN1A):c.1285C>T (p.Gln429Ter) rs1455927233
NM_001165963.4(SCN1A):c.1294G>C (p.Ala432Pro) rs1697892980
NM_001165963.4(SCN1A):c.1296del (p.Thr433fs) rs1553546789
NM_001165963.4(SCN1A):c.1301del (p.Leu434fs) rs794726810
NM_001165963.4(SCN1A):c.1301dup (p.Leu434fs) rs794726810
NM_001165963.4(SCN1A):c.1303del (p.Glu435fs) rs2105861548
NM_001165963.4(SCN1A):c.1306G>T (p.Glu436Ter) rs1553546763
NM_001165963.4(SCN1A):c.1313A>G (p.Glu438Gly) rs2105861457
NM_001165963.4(SCN1A):c.1314A>G (p.Glu438=) rs2105861442
NM_001165963.4(SCN1A):c.1317G>A (p.Gln439=)
NM_001165963.4(SCN1A):c.1323_1328del (p.Ala442_Glu443del) rs1697886499
NM_001165963.4(SCN1A):c.1324del (p.Ala442fs) rs2105861331
NM_001165963.4(SCN1A):c.1327G>C (p.Glu443Gln) rs1300925640
NM_001165963.4(SCN1A):c.1327G>T (p.Glu443Ter)
NM_001165963.4(SCN1A):c.1329A>G (p.Glu443=) rs1553546728
NM_001165963.4(SCN1A):c.1337del (p.Gln446fs)
NM_001165963.4(SCN1A):c.1339A>G (p.Met447Val) rs777596738
NM_001165963.4(SCN1A):c.1344T>C (p.Ile448=)
NM_001165963.4(SCN1A):c.1345G>T (p.Glu449Ter) rs794726807
NM_001165963.4(SCN1A):c.1348C>T (p.Gln450Ter) rs796052976
NM_001165963.4(SCN1A):c.1349del (p.Gln450fs) rs2105861043
NM_001165963.4(SCN1A):c.134A>G (p.Asp45Gly) rs1559284606
NM_001165963.4(SCN1A):c.1350G>A (p.Gln450=) rs1574233590
NM_001165963.4(SCN1A):c.1351C>T (p.Leu451Phe)
NM_001165963.4(SCN1A):c.1353_1354dup (p.Lys452fs)
NM_001165963.4(SCN1A):c.1354A>T (p.Lys452Ter) rs1553546668
NM_001165963.4(SCN1A):c.135C>T (p.Asp45=) rs201985242
NM_001165963.4(SCN1A):c.1369del (p.Ala457fs)
NM_001165963.4(SCN1A):c.1376A>G (p.Gln459Arg) rs2105860766
NM_001165963.4(SCN1A):c.1377+12C>T
NM_001165963.4(SCN1A):c.1377+1G>A
NM_001165963.4(SCN1A):c.1377+20T>C rs1178022374
NM_001165963.4(SCN1A):c.1377+20_1377+21delinsAT
NM_001165963.4(SCN1A):c.1377+2T>A
NM_001165963.4(SCN1A):c.1377+2T>C rs1697876590
NM_001165963.4(SCN1A):c.1377+3A>C rs1060502191
NM_001165963.4(SCN1A):c.1377+3A>G
NM_001165963.4(SCN1A):c.1377+6G>T rs1574233195
NM_001165963.4(SCN1A):c.1377+9G>T
NM_001165963.4(SCN1A):c.1378-12_1378-8del
NM_001165963.4(SCN1A):c.1378-3T>G
NM_001165963.4(SCN1A):c.1378-4dup
NM_001165963.4(SCN1A):c.1378-7A>T
NM_001165963.4(SCN1A):c.1381G>A (p.Ala461Thr)
NM_001165963.4(SCN1A):c.1389G>T (p.Thr463=)
NM_001165963.4(SCN1A):c.1390G>C (p.Ala464Pro)
NM_001165963.4(SCN1A):c.1393A>G (p.Thr465Ala) rs2105852658
NM_001165963.4(SCN1A):c.1401A>G (p.Ser467=)
NM_001165963.4(SCN1A):c.1404A>C (p.Glu468Asp) rs747528512
NM_001165963.4(SCN1A):c.140A>G (p.Asn47Ser)
NM_001165963.4(SCN1A):c.1411A>G (p.Arg471Gly) rs1553545793
NM_001165963.4(SCN1A):c.141T>C (p.Asn47=) rs377274282
NM_001165963.4(SCN1A):c.141del (p.Asn47fs) rs796053076
NM_001165963.4(SCN1A):c.1422T>G (p.Ser474Arg)
NM_001165963.4(SCN1A):c.1423_1424delinsCT (p.Ala475Leu) rs2105852411
NM_001165963.4(SCN1A):c.1426G>A (p.Ala476Thr)
NM_001165963.4(SCN1A):c.1426del (p.Ala476fs) rs1574225593
NM_001165963.4(SCN1A):c.1431C>G (p.Gly477=)
NM_001165963.4(SCN1A):c.1432_1435del (p.Arg478fs)
NM_001165963.4(SCN1A):c.1435C>A (p.Leu479Ile) rs1553545770
NM_001165963.4(SCN1A):c.1436T>C (p.Leu479Pro) rs1697679015
NM_001165963.4(SCN1A):c.1439C>A (p.Ser480Ter) rs2105852267
NM_001165963.4(SCN1A):c.1442_1445del (p.Asp481fs) rs794726829
NM_001165963.4(SCN1A):c.1448C>A (p.Ser483Ter)
NM_001165963.4(SCN1A):c.144C>A (p.Gly48=) rs886043534
NM_001165963.4(SCN1A):c.1458C>T (p.Ala486=)
NM_001165963.4(SCN1A):c.1463del (p.Lys488fs) rs1697674296
NM_001165963.4(SCN1A):c.1465_1480del (p.Ser490fs) rs2105851922
NM_001165963.4(SCN1A):c.1466T>A (p.Leu489Ter) rs1553545740
NM_001165963.4(SCN1A):c.1468A>C (p.Ser490Arg) rs2105852041
NM_001165963.4(SCN1A):c.1476G>A (p.Lys492=)
NM_001165963.4(SCN1A):c.1478G>C (p.Ser493Thr) rs1697671710
NM_001165963.4(SCN1A):c.1479T>A (p.Ser493Arg) rs200545739
NM_001165963.4(SCN1A):c.1485G>A (p.Lys495=)
NM_001165963.4(SCN1A):c.1486del (p.Glu496fs) rs2105851829
NM_001165963.4(SCN1A):c.1487A>G (p.Glu496Gly)
NM_001165963.4(SCN1A):c.1489del (p.Arg497fs) rs1697667767
NM_001165963.4(SCN1A):c.1493G>C (p.Arg498Thr) rs1448731908
NM_001165963.4(SCN1A):c.149_151del (p.Lys50_Pro51delinsThr) rs1684680680
NM_001165963.4(SCN1A):c.1500G>C (p.Arg500=) rs2105851628
NM_001165963.4(SCN1A):c.1501A>C (p.Arg501=)
NM_001165963.4(SCN1A):c.1508A>G (p.Lys503Arg)
NM_001165963.4(SCN1A):c.1509A>G (p.Lys503=)
NM_001165963.4(SCN1A):c.1511G>T (p.Arg504Ile) rs2105851522
NM_001165963.4(SCN1A):c.1511_1515del (p.Arg504fs) rs1553545660
NM_001165963.4(SCN1A):c.1512A>C (p.Arg504Ser) rs1233541206
NM_001165963.4(SCN1A):c.1512A>G (p.Arg504=) rs1233541206
NM_001165963.4(SCN1A):c.1516C>T (p.Gln506Ter) rs794726790
NM_001165963.4(SCN1A):c.1517del (p.Gln506fs) rs2105851438
NM_001165963.4(SCN1A):c.1518_1519del (p.Lys507fs) rs1559220874
NM_001165963.4(SCN1A):c.1522G>C (p.Glu508Gln) rs781087488
NM_001165963.4(SCN1A):c.1525C>T (p.Gln509Ter) rs2105851315
NM_001165963.4(SCN1A):c.1531G>C (p.Gly511Arg) rs1559220753
NM_001165963.4(SCN1A):c.1536G>A (p.Gly512=)
NM_001165963.4(SCN1A):c.1538A>G (p.Glu513Gly) rs1553545586
NM_001165963.4(SCN1A):c.1539A>G (p.Glu513=) rs587781144
NM_001165963.4(SCN1A):c.1539del (p.Glu514fs) rs1574224274
NM_001165963.4(SCN1A):c.153A>G (p.Pro51=)
NM_001165963.4(SCN1A):c.1543A>T (p.Lys515Ter) rs1553545567
NM_001165963.4(SCN1A):c.1545A>G (p.Lys515=)
NM_001165963.4(SCN1A):c.1548T>C (p.Asp516=) rs1057524611
NM_001165963.4(SCN1A):c.1549G>A (p.Glu517Lys)
NM_001165963.4(SCN1A):c.1549G>T (p.Glu517Ter) rs1392398456
NM_001165963.4(SCN1A):c.1550A>G (p.Glu517Gly)
NM_001165963.4(SCN1A):c.1554T>G (p.Asp518Glu)
NM_001165963.4(SCN1A):c.1556A>G (p.Glu519Gly)
NM_001165963.4(SCN1A):c.1561C>T (p.Gln521Ter)
NM_001165963.4(SCN1A):c.1566dup (p.Ser523fs) rs1574223964
NM_001165963.4(SCN1A):c.1567T>C (p.Ser523Pro)
NM_001165963.4(SCN1A):c.1573T>A (p.Ser525Thr) rs2105850864
NM_001165963.4(SCN1A):c.1573T>C (p.Ser525Pro)
NM_001165963.4(SCN1A):c.1574C>T (p.Ser525Phe) rs1697647054
NM_001165963.4(SCN1A):c.1575_1581del (p.Glu526fs) rs1697645789
NM_001165963.4(SCN1A):c.1584_1588del (p.Ser528fs) rs1553545522
NM_001165963.4(SCN1A):c.1586T>C (p.Ile529Thr) rs1166000241
NM_001165963.4(SCN1A):c.1587C>T (p.Ile529=)
NM_001165963.4(SCN1A):c.1589G>T (p.Arg530Met)
NM_001165963.4(SCN1A):c.1594A>G (p.Lys532Glu)
NM_001165963.4(SCN1A):c.1604G>C (p.Arg535Pro) rs184524479
NM_001165963.4(SCN1A):c.1608C>T (p.Phe536=)
NM_001165963.4(SCN1A):c.1613T>C (p.Ile538Thr) rs903052740
NM_001165963.4(SCN1A):c.1620del (p.Asn541fs) rs2105850381
NM_001165963.4(SCN1A):c.1622A>G (p.Asn541Ser) rs1697635871
NM_001165963.4(SCN1A):c.1624C>T (p.Arg542Ter)
NM_001165963.4(SCN1A):c.1632A>G (p.Thr544=)
NM_001165963.4(SCN1A):c.1634_1635del (p.Thr544_Tyr545insTer) rs1697632671
NM_001165963.4(SCN1A):c.1635T>G (p.Tyr545Ter)
NM_001165963.4(SCN1A):c.1639_1640del (p.Lys547fs) rs2105850165
NM_001165963.4(SCN1A):c.163T>A (p.Leu55Met)
NM_001165963.4(SCN1A):c.1648TCC[1] (p.Ser551del) rs1391693620
NM_001165963.4(SCN1A):c.1657C>T (p.His553Tyr) rs1697628486
NM_001165963.4(SCN1A):c.1659C>A (p.His553Gln)
NM_001165963.4(SCN1A):c.1659_1660insT (p.Gln554fs) rs2105849998
NM_001165963.4(SCN1A):c.1660dup (p.Gln554fs) rs794726717
NM_001165963.4(SCN1A):c.1662+1G>A rs794726749
NM_001165963.4(SCN1A):c.1662+1G>C rs794726749
NM_001165963.4(SCN1A):c.1662+1G>T rs794726749
NM_001165963.4(SCN1A):c.1662+3A>G rs794726773
NM_001165963.4(SCN1A):c.1662G>A (p.Gln554=) rs796052977
NM_001165963.4(SCN1A):c.1663-12del
NM_001165963.4(SCN1A):c.1663-15C>A
NM_001165963.4(SCN1A):c.1663-18G>A
NM_001165963.4(SCN1A):c.1663-19_1663-5del
NM_001165963.4(SCN1A):c.1663-1G>A
NM_001165963.4(SCN1A):c.1663-2A>G rs1085307520
NM_001165963.4(SCN1A):c.1663-3_1663-2del
NM_001165963.4(SCN1A):c.1663-4C>G
NM_001165963.4(SCN1A):c.1663_2176del (p.Ser555Asnfs*21)
NM_001165963.4(SCN1A):c.1667del (p.Leu556fs) rs794726704
NM_001165963.4(SCN1A):c.1668G>A (p.Leu556=) rs762975379
NM_001165963.4(SCN1A):c.1678C>G (p.Arg560Gly)
NM_001165963.4(SCN1A):c.1678del (p.Arg560fs)
NM_001165963.4(SCN1A):c.1683C>T (p.Gly561=)
NM_001165963.4(SCN1A):c.1685_1688del (p.Ser562fs)
NM_001165963.4(SCN1A):c.1694C>T (p.Ser565Leu)
NM_001165963.4(SCN1A):c.1695A>T (p.Ser565=)
NM_001165963.4(SCN1A):c.1700G>A (p.Arg567Lys) rs1176739172
NM_001165963.4(SCN1A):c.1700G>C (p.Arg567Thr) rs1176739172
NM_001165963.4(SCN1A):c.1702C>T (p.Arg568Ter) rs886039430
NM_001165963.4(SCN1A):c.1708A>T (p.Ser570Cys) rs2105844454
NM_001165963.4(SCN1A):c.1709G>A (p.Ser570Asn) rs1057518703
NM_001165963.4(SCN1A):c.1709del (p.Ser570fs) rs2105844439
NM_001165963.4(SCN1A):c.1712G>A (p.Arg571Lys) rs1697493699
NM_001165963.4(SCN1A):c.1719C>A (p.Ser573Arg)
NM_001165963.4(SCN1A):c.1719C>G (p.Ser573Arg) rs748767737
NM_001165963.4(SCN1A):c.1724del (p.Phe575fs) rs2105844323
NM_001165963.4(SCN1A):c.1727G>A (p.Ser576Asn) rs1697492585
NM_001165963.4(SCN1A):c.172G>A (p.Gly58Arg) rs1553560785
NM_001165963.4(SCN1A):c.172_183del (p.Gly58_Leu61del) rs1553560760
NM_001165963.4(SCN1A):c.1738C>A (p.Arg580=) rs794726736
NM_001165963.4(SCN1A):c.1738C>T (p.Arg580Ter) rs794726736
NM_001165963.4(SCN1A):c.1738dup (p.Arg580fs) rs1559217391
NM_001165963.4(SCN1A):c.1739G>T (p.Arg580Leu)
NM_001165963.4(SCN1A):c.173G>T (p.Gly58Val)
NM_001165963.4(SCN1A):c.1745dup (p.Asp583fs) rs2105844138
NM_001165963.4(SCN1A):c.1750G>A (p.Val584Met)
NM_001165963.4(SCN1A):c.1751_1752dup (p.Gly585fs) rs2105844086
NM_001165963.4(SCN1A):c.1755A>G (p.Gly585=)
NM_001165963.4(SCN1A):c.1764C>T (p.Asn588=) rs1026954517
NM_001165963.4(SCN1A):c.1765G>A (p.Asp589Asn) rs781481818
NM_001165963.4(SCN1A):c.1770C>A (p.Phe590Leu)
NM_001165963.4(SCN1A):c.1771G>A (p.Ala591Thr) rs1437209028
NM_001165963.4(SCN1A):c.1773A>C (p.Ala591=)
NM_001165963.4(SCN1A):c.1777dup (p.Asp593fs)
NM_001165963.4(SCN1A):c.1780G>A (p.Glu594Lys)
NM_001165963.4(SCN1A):c.1786A>G (p.Ser596Gly) rs1697479557
NM_001165963.4(SCN1A):c.1787_1789del (p.Ser596del) rs796053061
NM_001165963.4(SCN1A):c.1795G>T (p.Glu599Ter) rs1553544821
NM_001165963.4(SCN1A):c.1796_1803dup (p.Glu602fs) rs1697473667
NM_001165963.4(SCN1A):c.1800dup (p.Asn601Ter)
NM_001165963.4(SCN1A):c.1801A>G (p.Asn601Asp) rs1697474227
NM_001165963.4(SCN1A):c.1804G>T (p.Glu602Ter) rs794726834
NM_001165963.4(SCN1A):c.1805A>G (p.Glu602Gly) rs2105843593
NM_001165963.4(SCN1A):c.1806G>A (p.Glu602=)
NM_001165963.4(SCN1A):c.1807_1808del (p.Ser603fs) rs2105843552
NM_001165963.4(SCN1A):c.1808G>A (p.Ser603Asn) rs1697471204
NM_001165963.4(SCN1A):c.1809C>A (p.Ser603Arg)
NM_001165963.4(SCN1A):c.180C>T (p.Asn60=) rs746510690
NM_001165963.4(SCN1A):c.1810C>A (p.Arg604Ser)
NM_001165963.4(SCN1A):c.1810dup (p.Arg604fs) rs1574217232
NM_001165963.4(SCN1A):c.1815A>G (p.Arg605=)
NM_001165963.4(SCN1A):c.1817A>G (p.Asp606Gly)
NM_001165963.4(SCN1A):c.1817A>T (p.Asp606Val) rs748797259
NM_001165963.4(SCN1A):c.1819T>A (p.Ser607Thr) rs967989950
NM_001165963.4(SCN1A):c.181C>T (p.Leu61Phe) rs2105982797
NM_001165963.4(SCN1A):c.181del (p.Leu61fs) rs2105982815
NM_001165963.4(SCN1A):c.1821C>G (p.Ser607=) rs1574217006
NM_001165963.4(SCN1A):c.1821C>T (p.Ser607=)
NM_001165963.4(SCN1A):c.1822T>A (p.Leu608Met)
NM_001165963.4(SCN1A):c.1825T>C (p.Phe609Leu) rs2105843262
NM_001165963.4(SCN1A):c.1828G>A (p.Val610Met)
NM_001165963.4(SCN1A):c.1834C>T (p.Arg612Ter) rs794726778
NM_001165963.4(SCN1A):c.1834del (p.Arg612fs)
NM_001165963.4(SCN1A):c.1834dup (p.Arg612fs) rs2105843194
NM_001165963.4(SCN1A):c.1837C>A (p.Arg613=)
NM_001165963.4(SCN1A):c.1837C>T (p.Arg613Ter) rs398123585
NM_001165963.4(SCN1A):c.1838G>A (p.Arg613Gln) rs755323236
NM_001165963.4(SCN1A):c.1839del (p.His614fs) rs1697458345
NM_001165963.4(SCN1A):c.1840C>T (p.His614Tyr)
NM_001165963.4(SCN1A):c.1840_1852delinsGATTCCTTGTTTGTGCACTCAGGT (p.His614fs) rs1574216450
NM_001165963.4(SCN1A):c.1842C>G (p.His614Gln)
NM_001165963.4(SCN1A):c.1843G>A (p.Gly615Arg)
NM_001165963.4(SCN1A):c.1847A>C (p.Glu616Ala)
NM_001165963.4(SCN1A):c.1849A>G (p.Arg617Gly) rs1553544701
NM_001165963.4(SCN1A):c.184_187del (p.Pro62fs) rs1684673339
NM_001165963.4(SCN1A):c.1850G>A (p.Arg617Lys)
NM_001165963.4(SCN1A):c.1850_1851dup (p.Arg618fs) rs1559216338
NM_001165963.4(SCN1A):c.1852C>A (p.Arg618Ser)
NM_001165963.4(SCN1A):c.1852del (p.Arg618fs) rs796053064
NM_001165963.4(SCN1A):c.1854dup (p.Asn619fs)
NM_001165963.4(SCN1A):c.1857C>T (p.Asn619=)
NM_001165963.4(SCN1A):c.1858A>T (p.Ser620Cys)
NM_001165963.4(SCN1A):c.185del (p.Pro62fs) rs35595680
NM_001165963.4(SCN1A):c.1865T>G (p.Leu622Arg)
NM_001165963.4(SCN1A):c.1867A>C (p.Ser623Arg)
NM_001165963.4(SCN1A):c.1869T>C (p.Ser623=)
NM_001165963.4(SCN1A):c.1875C>A (p.Thr625=) rs1423227098
NM_001165963.4(SCN1A):c.1876A>G (p.Ser626Gly) rs121917990
NM_001165963.4(SCN1A):c.1879dup (p.Arg627fs) rs1697441834
NM_001165963.4(SCN1A):c.1883C>A (p.Ser628Ter) rs1697440060
NM_001165963.4(SCN1A):c.1888dup (p.Arg630fs) rs1697439746
NM_001165963.4(SCN1A):c.1889G>C (p.Arg630Pro) rs145670933
NM_001165963.4(SCN1A):c.1892T>C (p.Met631Thr)
NM_001165963.4(SCN1A):c.1895del (p.Leu632fs)
NM_001165963.4(SCN1A):c.1898C>T (p.Ala633Val) rs1574215846
NM_001165963.4(SCN1A):c.1900del (p.Val634fs) rs2105842394
NM_001165963.4(SCN1A):c.1903T>C (p.Phe635Leu)
NM_001165963.4(SCN1A):c.1908A>G (p.Pro636=)
NM_001165963.4(SCN1A):c.1915G>A (p.Gly639Arg)
NM_001165963.4(SCN1A):c.1919del (p.Lys640fs)
NM_001165963.4(SCN1A):c.1920G>T (p.Lys640Asn) rs1697434336
NM_001165963.4(SCN1A):c.1923G>A (p.Met641Ile) rs2105842235
NM_001165963.4(SCN1A):c.1931_1939delinsA (p.Thr644fs) rs1553544579
NM_001165963.4(SCN1A):c.1936G>A (p.Asp646Asn) rs1553544581
NM_001165963.4(SCN1A):c.1948G>A (p.Val650Met) rs398123586
NM_001165963.4(SCN1A):c.1950G>A (p.Val650=)
NM_001165963.4(SCN1A):c.1958T>A (p.Leu653Ter) rs1553544559
NM_001165963.4(SCN1A):c.1959G>A (p.Leu653=)
NM_001165963.4(SCN1A):c.1959G>C (p.Leu653Phe) rs1697427696
NM_001165963.4(SCN1A):c.195T>G (p.Tyr65Ter) rs1684672231
NM_001165963.4(SCN1A):c.1961T>C (p.Val654Ala) rs1697427369
NM_001165963.4(SCN1A):c.1967G>T (p.Gly656Val)
NM_001165963.4(SCN1A):c.1969_1975del (p.Pro657fs) rs2105841790
NM_001165963.4(SCN1A):c.1970C>T (p.Pro657Leu) rs794726838
NM_001165963.4(SCN1A):c.1972del (p.Ser658fs) rs2105841828
NM_001165963.4(SCN1A):c.1973C>T (p.Ser658Leu)
NM_001165963.4(SCN1A):c.1975G>A (p.Val659Ile) rs1559215483
NM_001165963.4(SCN1A):c.1975G>C (p.Val659Leu) rs1559215483
NM_001165963.4(SCN1A):c.1976T>C (p.Val659Ala)
NM_001165963.4(SCN1A):c.1978C>A (p.Pro660Thr)
NM_001165963.4(SCN1A):c.1985C>T (p.Ser662Leu)
NM_001165963.4(SCN1A):c.1986G>C (p.Ser662=)
NM_001165963.4(SCN1A):c.2011G>T (p.Val671Leu)
NM_001165963.4(SCN1A):c.2012T>C (p.Val671Ala) rs1574214843
NM_001165963.4(SCN1A):c.2015T>C (p.Ile672Thr)
NM_001165963.4(SCN1A):c.2020G>C (p.Asp674His) rs1574214734
NM_001165963.4(SCN1A):c.2020_2023del (p.Asp674fs) rs1553544470
NM_001165963.4(SCN1A):c.2037T>C (p.Asp679=)
NM_001165963.4(SCN1A):c.203T>G (p.Ile68Ser) rs758871507
NM_001165963.4(SCN1A):c.2043+16_2043+21del
NM_001165963.4(SCN1A):c.2043+1G>A rs751533302
NM_001165963.4(SCN1A):c.2043+7A>C
NM_001165963.4(SCN1A):c.2043T>G (p.Asn681Lys) rs754934003
NM_001165963.4(SCN1A):c.2044-14A>T rs537722606
NM_001165963.4(SCN1A):c.2044-1G>A rs1697297091
NM_001165963.4(SCN1A):c.2044-20_2051dup rs1288412817
NM_001165963.4(SCN1A):c.2044-2del
NM_001165963.4(SCN1A):c.2044-4A>T rs2105835899
NM_001165963.4(SCN1A):c.2044-4dup
NM_001165963.4(SCN1A):c.2044-5del rs549232924
NM_001165963.4(SCN1A):c.2044-5dup rs549232924
NM_001165963.4(SCN1A):c.2044-6_2044-5dup
NM_001165963.4(SCN1A):c.2044G>A (p.Gly682Arg) rs1398374184
NM_001165963.4(SCN1A):c.2044G>T (p.Gly682Ter) rs1398374184
NM_001165963.4(SCN1A):c.2044_6030del
NM_001165963.4(SCN1A):c.2048C>A (p.Thr683Lys)
NM_001165963.4(SCN1A):c.204T>C (p.Ile68=) rs2105982539
NM_001165963.4(SCN1A):c.2051C>T (p.Thr684Ile) rs1574209746
NM_001165963.4(SCN1A):c.205C>T (p.Pro69Ser)
NM_001165963.4(SCN1A):c.2061_2062del (p.Glu688fs) rs2105835707
NM_001165963.4(SCN1A):c.2062G>A (p.Glu688Lys)
NM_001165963.4(SCN1A):c.2066T>C (p.Met689Thr) rs1559213016
NM_001165963.4(SCN1A):c.2068A>G (p.Arg690Gly) rs939867202
NM_001165963.4(SCN1A):c.2071A>T (p.Lys691Ter) rs794726747
NM_001165963.4(SCN1A):c.2078G>A (p.Arg693Lys)
NM_001165963.4(SCN1A):c.207del (p.Pro70fs) rs1574371902
NM_001165963.4(SCN1A):c.208C>A (p.Pro70Thr) rs2105982466
NM_001165963.4(SCN1A):c.2094del (p.His698fs)
NM_001165963.4(SCN1A):c.2095G>A (p.Val699Ile) rs1260934774
NM_001165963.4(SCN1A):c.2100del (p.Met701fs) rs794726806
NM_001165963.4(SCN1A):c.2110C>G (p.Leu704Val) rs2105835263
NM_001165963.4(SCN1A):c.2111T>C (p.Leu704Pro) rs1131691747
NM_001165963.4(SCN1A):c.2119C>T (p.Pro707Ser)
NM_001165963.4(SCN1A):c.2120C>T (p.Pro707Leu)
NM_001165963.4(SCN1A):c.2123C>T (p.Ser708Phe)
NM_001165963.4(SCN1A):c.2127A>G (p.Gln709=)
NM_001165963.4(SCN1A):c.2131C>T (p.Gln711Ter) rs1574209023
NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter) rs794726730
NM_001165963.4(SCN1A):c.2137G>A (p.Ala713Thr)
NM_001165963.4(SCN1A):c.2140A>G (p.Met714Val) rs1697282256
NM_001165963.4(SCN1A):c.2141T>C (p.Met714Thr)
NM_001165963.4(SCN1A):c.2142G>A (p.Met714Ile)
NM_001165963.4(SCN1A):c.2147_2150del (p.Ile716fs) rs1574208760
NM_001165963.4(SCN1A):c.214_216dup (p.Met72dup) rs1553560740
NM_001165963.4(SCN1A):c.2156T>A (p.Ile719Asn) rs1553543839
NM_001165963.4(SCN1A):c.215T>C (p.Met72Thr)
NM_001165963.4(SCN1A):c.2160A>G (p.Leu720=) rs2105834784
NM_001165963.4(SCN1A):c.2162C>T (p.Thr721Ile)
NM_001165963.4(SCN1A):c.2164A>C (p.Asn722His) rs1341631584
NM_001165963.4(SCN1A):c.2164A>G (p.Asn722Asp) rs1341631584
NM_001165963.4(SCN1A):c.2166T>C (p.Asn722=) rs1574208553
NM_001165963.4(SCN1A):c.2167_2176+13dup
NM_001165963.4(SCN1A):c.2167del (p.Thr723fs)
NM_001165963.4(SCN1A):c.2168C>T (p.Thr723Ile)
NM_001165963.4(SCN1A):c.2170G>A (p.Val724Ile) rs771260698
NM_001165963.4(SCN1A):c.2170G>C (p.Val724Leu) rs771260698
NM_001165963.4(SCN1A):c.2172del (p.Glu725fs) rs1697277384
NM_001165963.4(SCN1A):c.2173G>T (p.Glu725Ter) rs1553543828
NM_001165963.4(SCN1A):c.2176+1G>A
NM_001165963.4(SCN1A):c.2176+1G>T rs2105834651
NM_001165963.4(SCN1A):c.2176+2T>C
NM_001165963.4(SCN1A):c.2176+3T>A rs794726795
NM_001165963.4(SCN1A):c.2176+9C>A
NM_001165963.4(SCN1A):c.2176G>T (p.Glu726Ter)
NM_001165963.4(SCN1A):c.2177-11dup rs11394960
NM_001165963.4(SCN1A):c.2177-12_2177-11insTC
NM_001165963.4(SCN1A):c.2177-14T>C rs2105830037
NM_001165963.4(SCN1A):c.2177-14_2177-13insC
NM_001165963.4(SCN1A):c.2177-19_2177-18insTG
NM_001165963.4(SCN1A):c.2177-1G>C rs763400390
NM_001165963.4(SCN1A):c.2177-2A>T rs1436792531
NM_001165963.4(SCN1A):c.2177-8dup rs747086735
NM_001165963.4(SCN1A):c.2179_2180insA (p.Leu727fs)
NM_001165963.4(SCN1A):c.217G>C (p.Val73Leu)
NM_001165963.4(SCN1A):c.2183A>G (p.Glu728Gly)
NM_001165963.4(SCN1A):c.2185G>A (p.Glu729Lys)
NM_001165963.4(SCN1A):c.218T>C (p.Val73Ala)
NM_001165963.4(SCN1A):c.2191A>G (p.Arg731Gly) rs2105829492
NM_001165963.4(SCN1A):c.2192G>T (p.Arg731Met)
NM_001165963.4(SCN1A):c.2194C>T (p.Gln732Ter)
NM_001165963.4(SCN1A):c.2203C>G (p.Pro735Ala)
NM_001165963.4(SCN1A):c.2208C>T (p.Pro736=)
NM_001165963.4(SCN1A):c.220T>C (p.Ser74Pro) rs121917931
NM_001165963.4(SCN1A):c.2213G>A (p.Trp738Ter) rs794726742
NM_001165963.4(SCN1A):c.2213G>T (p.Trp738Leu) rs794726742
NM_001165963.4(SCN1A):c.2214G>A (p.Trp738Ter) rs786205214
NM_001165963.4(SCN1A):c.2217T>G (p.Tyr739Ter) rs2105829215
NM_001165963.4(SCN1A):c.2219A>T (p.Lys740Ile)
NM_001165963.4(SCN1A):c.2230A>G (p.Ile744Val) rs2105829122
NM_001165963.4(SCN1A):c.2232_2233del (p.Phe745fs) rs1697160366
NM_001165963.4(SCN1A):c.2238A>T (p.Leu746Phe)
NM_001165963.4(SCN1A):c.2243G>A (p.Trp748Ter) rs1697157422
NM_001165963.4(SCN1A):c.2244G>A (p.Trp748Ter) rs1553543340
NM_001165963.4(SCN1A):c.2245G>T (p.Asp749Tyr) rs1697156587
NM_001165963.4(SCN1A):c.2247C>G (p.Asp749Glu) rs1697155906
NM_001165963.4(SCN1A):c.2248T>A (p.Cys750Ser)
NM_001165963.4(SCN1A):c.2248T>G (p.Cys750Gly)
NM_001165963.4(SCN1A):c.2252C>T (p.Ser751Phe) rs2105828879
NM_001165963.4(SCN1A):c.2253del (p.Pro752fs)
NM_001165963.4(SCN1A):c.2257T>C (p.Tyr753His)
NM_001165963.4(SCN1A):c.2259T>G (p.Tyr753Ter)
NM_001165963.4(SCN1A):c.2260T>C (p.Trp754Arg)
NM_001165963.4(SCN1A):c.2261G>A (p.Trp754Ter) rs794726743
NM_001165963.4(SCN1A):c.2261G>T (p.Trp754Leu) rs794726743
NM_001165963.4(SCN1A):c.2262G>C (p.Trp754Cys) rs1553543323
NM_001165963.4(SCN1A):c.2264T>G (p.Leu755Ter)
NM_001165963.4(SCN1A):c.2266A>G (p.Lys756Glu) rs1426666349
NM_001165963.4(SCN1A):c.2266A>T (p.Lys756Ter) rs1426666349
NM_001165963.4(SCN1A):c.2267_2268del (p.Lys756fs)
NM_001165963.4(SCN1A):c.2268del (p.Lys756_Val757insTer) rs1559210063
NM_001165963.4(SCN1A):c.2269G>A (p.Val757Met) rs1697152393
NM_001165963.4(SCN1A):c.226C>A (p.Pro76Thr)
NM_001165963.4(SCN1A):c.226C>T (p.Pro76Ser) rs1574371737
NM_001165963.4(SCN1A):c.2272A>C (p.Lys758Gln) rs1553543316
NM_001165963.4(SCN1A):c.2273A>C (p.Lys758Thr)
NM_001165963.4(SCN1A):c.2276_2277del (p.His759fs)
NM_001165963.4(SCN1A):c.2278G>A (p.Val760Ile) rs1574203036
NM_001165963.4(SCN1A):c.2278G>C (p.Val760Leu) rs1574203036
NM_001165963.4(SCN1A):c.2278G>T (p.Val760Phe) rs1574203036
NM_001165963.4(SCN1A):c.227C>T (p.Pro76Leu)
NM_001165963.4(SCN1A):c.2284A>C (p.Asn762His) rs2105828579
NM_001165963.4(SCN1A):c.2284A>G (p.Asn762Asp) rs2105828579
NM_001165963.4(SCN1A):c.2287C>A (p.Leu763Met)
NM_001165963.4(SCN1A):c.2287del (p.Leu763fs) rs2105828550
NM_001165963.4(SCN1A):c.2288T>C (p.Leu763Pro)
NM_001165963.4(SCN1A):c.2289G>A (p.Leu763=) rs1697149654
NM_001165963.4(SCN1A):c.2292T>A (p.Val764=) rs6432860
NM_001165963.4(SCN1A):c.2292_2293inv (p.Val765Met)
NM_001165963.4(SCN1A):c.2295del (p.Met766fs)
NM_001165963.4(SCN1A):c.2297T>G (p.Met766Arg) rs2105828429
NM_001165963.4(SCN1A):c.2299_2302dup (p.Pro768fs) rs794726750
NM_001165963.4(SCN1A):c.229del (p.Leu77fs)
NM_001165963.4(SCN1A):c.2300A>G (p.Asp767Gly)
NM_001165963.4(SCN1A):c.2302C>G (p.Pro768Ala)
NM_001165963.4(SCN1A):c.2303C>T (p.Pro768Leu) rs794726766
NM_001165963.4(SCN1A):c.230T>C (p.Leu77Pro) rs2105982276
NM_001165963.4(SCN1A):c.2310T>A (p.Val770=) rs1697144683
NM_001165963.4(SCN1A):c.2311G>A (p.Asp771Asn)
NM_001165963.4(SCN1A):c.2314C>T (p.Leu772=)
NM_001165963.4(SCN1A):c.2318_2319insT (p.Ile774fs) rs794726820
NM_001165963.4(SCN1A):c.231_247del (p.Glu78fs) rs2105982105
NM_001165963.4(SCN1A):c.2322C>A (p.Ile774=) rs752067973
NM_001165963.4(SCN1A):c.2327T>A (p.Ile776Asn)
NM_001165963.4(SCN1A):c.232G>A (p.Glu78Lys)
NM_001165963.4(SCN1A):c.2330G>A (p.Cys777Tyr) rs2105828112
NM_001165963.4(SCN1A):c.2332A>G (p.Ile778Val) rs2105828062
NM_001165963.4(SCN1A):c.2341_2344del (p.Asn781fs) rs2105827941
NM_001165963.4(SCN1A):c.2343T>C (p.Asn781=) rs1574202373
NM_001165963.4(SCN1A):c.2344A>C (p.Thr782Pro)
NM_001165963.4(SCN1A):c.2344A>T (p.Thr782Ser) rs1574202324
NM_001165963.4(SCN1A):c.2344_2385del (p.Thr782_His795del)
NM_001165963.4(SCN1A):c.2346T>C (p.Thr782=) rs1441123414
NM_001165963.4(SCN1A):c.2348T>C (p.Leu783Pro) rs121917968
NM_001165963.4(SCN1A):c.2349T>G (p.Leu783=) rs1553543221
NM_001165963.4(SCN1A):c.234G>A (p.Glu78=)
NM_001165963.4(SCN1A):c.234G>C (p.Glu78Asp)
NM_001165963.4(SCN1A):c.234G>T (p.Glu78Asp) rs121917933
NM_001165963.4(SCN1A):c.2350_2351del (p.Phe784fs) rs1553543215
NM_001165963.4(SCN1A):c.2353A>G (p.Met785Val) rs767045134
NM_001165963.4(SCN1A):c.2354T>G (p.Met785Arg) rs796053095
NM_001165963.4(SCN1A):c.2355G>A (p.Met785Ile) rs2105827770
NM_001165963.4(SCN1A):c.2357C>T (p.Ala786Val)
NM_001165963.4(SCN1A):c.235G>C (p.Asp79His) rs121917982
NM_001165963.4(SCN1A):c.2360T>A (p.Met787Lys)
NM_001165963.4(SCN1A):c.2362G>A (p.Glu788Lys) rs1057517959
NM_001165963.4(SCN1A):c.2363A>T (p.Glu788Val) rs1697134047
NM_001165963.4(SCN1A):c.2364G>A (p.Glu788=) rs1574201998
NM_001165963.4(SCN1A):c.2366A>T (p.His789Leu)
NM_001165963.4(SCN1A):c.2368T>A (p.Tyr790Asn)
NM_001165963.4(SCN1A):c.2369A>G (p.Tyr790Cys) rs121918782
NM_001165963.4(SCN1A):c.236A>C (p.Asp79Ala)
NM_001165963.4(SCN1A):c.236A>G (p.Asp79Gly)
NM_001165963.4(SCN1A):c.2370T>C (p.Tyr790=) rs1350896451
NM_001165963.4(SCN1A):c.2370T>G (p.Tyr790Ter)
NM_001165963.4(SCN1A):c.2371C>G (p.Pro791Ala) rs1697132427
NM_001165963.4(SCN1A):c.2371C>T (p.Pro791Ser)
NM_001165963.4(SCN1A):c.2372C>A (p.Pro791Gln)
NM_001165963.4(SCN1A):c.2372C>T (p.Pro791Leu) rs1697132063
NM_001165963.4(SCN1A):c.2374A>G (p.Met792Val)
NM_001165963.4(SCN1A):c.2374del (p.Pro791_Met792insTer)
NM_001165963.4(SCN1A):c.237C>G (p.Asp79Glu)
NM_001165963.4(SCN1A):c.2380G>A (p.Asp794Asn) rs1360811002
NM_001165963.4(SCN1A):c.2380G>C (p.Asp794His)
NM_001165963.4(SCN1A):c.2385T>C (p.His795=)
NM_001165963.4(SCN1A):c.2385T>G (p.His795Gln) rs1334303970
NM_001165963.4(SCN1A):c.2389A>G (p.Asn797Asp)
NM_001165963.4(SCN1A):c.238C>G (p.Leu80Val) rs2105982158
NM_001165963.4(SCN1A):c.238dup (p.Leu80fs) rs1684663586
NM_001165963.4(SCN1A):c.2391T>C (p.Asn797=)
NM_001165963.4(SCN1A):c.2393_2404del (p.Asn798_Val802delinsIle) rs1697127484
NM_001165963.4(SCN1A):c.2393_2411del (p.Asn798fs) rs1574201591
NM_001165963.4(SCN1A):c.2399T>C (p.Leu800Pro) rs2105827389
NM_001165963.4(SCN1A):c.239_243del (p.Leu80fs)
NM_001165963.4(SCN1A):c.2402_2403insT (p.Val802fs) rs2105827355
NM_001165963.4(SCN1A):c.2403A>G (p.Thr801=)
NM_001165963.4(SCN1A):c.2404G>A (p.Val802Ile) rs1057518467
NM_001165963.4(SCN1A):c.2412C>G (p.Asn804Lys)
NM_001165963.4(SCN1A):c.2412C>T (p.Asn804=) rs2105827258
NM_001165963.4(SCN1A):c.2413T>G (p.Leu805Val)
NM_001165963.4(SCN1A):c.2415+11T>C
NM_001165963.4(SCN1A):c.2415+16G>A
NM_001165963.4(SCN1A):c.2415+19A>C rs2105827090
NM_001165963.4(SCN1A):c.2415+1G>A rs886041292
NM_001165963.4(SCN1A):c.2415+1G>T
NM_001165963.4(SCN1A):c.2415+1del rs2105827235
NM_001165963.4(SCN1A):c.2415+20A>C
NM_001165963.4(SCN1A):c.2415+20A>G
NM_001165963.4(SCN1A):c.2415+2T>C rs1574201555
NM_001165963.4(SCN1A):c.2415+3A>G
NM_001165963.4(SCN1A):c.2415+3_2415+24del rs1553543127
NM_001165963.4(SCN1A):c.2415+5G>A
NM_001165963.4(SCN1A):c.2415+8T>C rs1064797265
NM_001165963.4(SCN1A):c.2415+9A>G rs2105827142
NM_001165963.4(SCN1A):c.2415G>T (p.Leu805Phe) rs1697125571
NM_001165963.4(SCN1A):c.2416-12T>C
NM_001165963.4(SCN1A):c.2416-17T>C
NM_001165963.4(SCN1A):c.2416-1G>A rs1553542421
NM_001165963.4(SCN1A):c.2416-35_2419dup rs1696890186
NM_001165963.4(SCN1A):c.2416-4T>G rs398123587
NM_001165963.4(SCN1A):c.2416-6T>G rs2105817829
NM_001165963.4(SCN1A):c.2418T>A (p.Val806=)
NM_001165963.4(SCN1A):c.241G>A (p.Asp81Asn)
NM_001165963.4(SCN1A):c.241G>T (p.Asp81Tyr)
NM_001165963.4(SCN1A):c.2422A>C (p.Thr808Pro)
NM_001165963.4(SCN1A):c.2422A>T (p.Thr808Ser) rs121918758
NM_001165963.4(SCN1A):c.2423C>G (p.Thr808Ser)
NM_001165963.4(SCN1A):c.2427G>A (p.Gly809=)
NM_001165963.4(SCN1A):c.2429T>A (p.Ile810Asn) rs1696888691
NM_001165963.4(SCN1A):c.242A>G (p.Asp81Gly) rs1684663181
NM_001165963.4(SCN1A):c.242A>T (p.Asp81Val)
NM_001165963.4(SCN1A):c.2431T>C (p.Phe811Leu)
NM_001165963.4(SCN1A):c.2431T>G (p.Phe811Val)
NM_001165963.4(SCN1A):c.2432T>C (p.Phe811Ser)
NM_001165963.4(SCN1A):c.2433T>C (p.Phe811=)
NM_001165963.4(SCN1A):c.2434A>C (p.Thr812Pro)
NM_001165963.4(SCN1A):c.2435C>G (p.Thr812Arg) rs121917941
NM_001165963.4(SCN1A):c.2437G>A (p.Ala813Thr)
NM_001165963.4(SCN1A):c.2437del (p.Ala813fs)
NM_001165963.4(SCN1A):c.243C>A (p.Asp81Glu) rs796053016
NM_001165963.4(SCN1A):c.2440G>T (p.Glu814Ter) rs1553542378
NM_001165963.4(SCN1A):c.2443_2445del (p.Met815del) rs1696886277
NM_001165963.4(SCN1A):c.2449C>T (p.Leu817=)
NM_001165963.4(SCN1A):c.244C>T (p.Pro82Ser)
NM_001165963.4(SCN1A):c.2459T>C (p.Ile820Thr) rs886055045
NM_001165963.4(SCN1A):c.245C>T (p.Pro82Leu) rs2105982111
NM_001165963.4(SCN1A):c.2460dup (p.Ala821fs) rs1696883051
NM_001165963.4(SCN1A):c.2470C>A (p.Pro824Thr)
NM_001165963.4(SCN1A):c.2473dup (p.Tyr825fs)
NM_001165963.4(SCN1A):c.2474A>G (p.Tyr825Cys)
NM_001165963.4(SCN1A):c.2475C>A (p.Tyr825Ter) rs1696880667
NM_001165963.4(SCN1A):c.2475C>T (p.Tyr825=) rs1696880667
NM_001165963.4(SCN1A):c.2479T>C (p.Tyr827His)
NM_001165963.4(SCN1A):c.2479T>G (p.Tyr827Asp) rs794726805
NM_001165963.4(SCN1A):c.247T>G (p.Tyr83Asp) rs1362796016
NM_001165963.4(SCN1A):c.2483_2484del (p.Phe828fs)
NM_001165963.4(SCN1A):c.2486A>G (p.Gln829Arg)
NM_001165963.4(SCN1A):c.248A>G (p.Tyr83Cys) rs1574371399
NM_001165963.4(SCN1A):c.2495G>A (p.Trp832Ter) rs1574192998
NM_001165963.4(SCN1A):c.2496G>A (p.Trp832Ter) rs1553542309
NM_001165963.4(SCN1A):c.2499T>C (p.Asn833=) rs1574192902
NM_001165963.4(SCN1A):c.2499del (p.Asn833fs) rs2105817176
NM_001165963.4(SCN1A):c.249C>A (p.Tyr83Ter) rs863225031
NM_001165963.4(SCN1A):c.249C>G (p.Tyr83Ter)
NM_001165963.4(SCN1A):c.2500A>G (p.Ile834Val)
NM_001165963.4(SCN1A):c.2504T>C (p.Phe835Ser) rs796052981
NM_001165963.4(SCN1A):c.2508C>A (p.Asp836Glu)
NM_001165963.4(SCN1A):c.2508C>G (p.Asp836Glu)
NM_001165963.4(SCN1A):c.2511T>C (p.Gly837=)
NM_001165963.4(SCN1A):c.2513_2514del (p.Phe838fs) rs2105817065
NM_001165963.4(SCN1A):c.2515_2517del (p.Ile839del) rs2105817035
NM_001165963.4(SCN1A):c.2516T>C (p.Ile839Thr) rs2105817051
NM_001165963.4(SCN1A):c.2518G>A (p.Val840Met) rs1574192730
NM_001165963.4(SCN1A):c.251A>G (p.Tyr84Cys) rs121917964
NM_001165963.4(SCN1A):c.2522C>G (p.Thr841Arg) rs750901301
NM_001165963.4(SCN1A):c.2523_2524del (p.Thr841_Leu842insTer) rs794726738
NM_001165963.4(SCN1A):c.2524C>T (p.Leu842Phe)
NM_001165963.4(SCN1A):c.2525T>G (p.Leu842Arg)
NM_001165963.4(SCN1A):c.2528del (p.Ser843fs) rs2105816922
NM_001165963.4(SCN1A):c.252T>A (p.Tyr84Ter) rs2105982029
NM_001165963.4(SCN1A):c.2531T>G (p.Leu844Arg)
NM_001165963.4(SCN1A):c.2536G>A (p.Glu846Lys) rs121917942
NM_001165963.4(SCN1A):c.2537A>G (p.Glu846Gly) rs794726794
NM_001165963.4(SCN1A):c.253A>G (p.Ile85Val) rs1574371287
NM_001165963.4(SCN1A):c.253dup (p.Ile85fs)
NM_001165963.4(SCN1A):c.2542G>T (p.Gly848Ter) rs1553542262
NM_001165963.4(SCN1A):c.2548G>A (p.Ala850Thr)
NM_001165963.4(SCN1A):c.2552A>T (p.Asn851Ile) rs561912072
NM_001165963.4(SCN1A):c.2557G>A (p.Glu853Lys)
NM_001165963.4(SCN1A):c.2561G>A (p.Gly854Glu)
NM_001165963.4(SCN1A):c.2565_2568dup (p.Val857fs) rs1553542199
NM_001165963.4(SCN1A):c.2569del (p.Val857fs) rs796053065
NM_001165963.4(SCN1A):c.256A>C (p.Asn86His)
NM_001165963.4(SCN1A):c.2570T>C (p.Val857Ala)
NM_001165963.4(SCN1A):c.2575C>T (p.Arg859Cys) rs121918784
NM_001165963.4(SCN1A):c.2576G>T (p.Arg859Leu)
NM_001165963.4(SCN1A):c.2579C>A (p.Ser860Ter) rs1574192005
NM_001165963.4(SCN1A):c.257del (p.Asn86fs)
NM_001165963.4(SCN1A):c.2584C>G (p.Arg862Gly) rs397514459
NM_001165963.4(SCN1A):c.2584C>T (p.Arg862Ter) rs397514459
NM_001165963.4(SCN1A):c.2585G>A (p.Arg862Gln) rs121918785
NM_001165963.4(SCN1A):c.2585G>C (p.Arg862Pro)
NM_001165963.4(SCN1A):c.2585G>T (p.Arg862Leu) rs121918785
NM_001165963.4(SCN1A):c.2588T>G (p.Leu863Trp) rs794726712
NM_001165963.4(SCN1A):c.2589+17A>C rs1696857207
NM_001165963.4(SCN1A):c.2589+17_2589+18insAAC rs2105816129
NM_001165963.4(SCN1A):c.2589+18_2589+20del rs766413788
NM_001165963.4(SCN1A):c.2589+19_2589+20del
NM_001165963.4(SCN1A):c.2589+1G>C
NM_001165963.4(SCN1A):c.2589+1G>T rs1057517849
NM_001165963.4(SCN1A):c.2589+2dup
NM_001165963.4(SCN1A):c.2589+3A>G rs794726775
NM_001165963.4(SCN1A):c.2589+3A>T rs794726775
NM_001165963.4(SCN1A):c.2589+7A>G
NM_001165963.4(SCN1A):c.2589+9A>G
NM_001165963.4(SCN1A):c.258dup (p.Lys87Ter)
NM_001165963.4(SCN1A):c.2590-1G>A rs2105808993
NM_001165963.4(SCN1A):c.2590-1G>T
NM_001165963.4(SCN1A):c.2590-24_2590-19del rs1406361677
NM_001165963.4(SCN1A):c.2590-26AT[3]
NM_001165963.4(SCN1A):c.2590-2A>G rs727504140
NM_001165963.4(SCN1A):c.2590-3_2601del
NM_001165963.4(SCN1A):c.2590C>A (p.Leu864Met) rs140035595
NM_001165963.4(SCN1A):c.2591T>A (p.Leu864Gln)
NM_001165963.4(SCN1A):c.2593C>G (p.Arg865Gly)
NM_001165963.4(SCN1A):c.2593C>T (p.Arg865Ter) rs794726697
NM_001165963.4(SCN1A):c.2594G>A (p.Arg865Gln) rs1057517862
NM_001165963.4(SCN1A):c.2595del (p.Val866fs) rs2105808860
NM_001165963.4(SCN1A):c.2596G>C (p.Val866Leu) rs2105808820
NM_001165963.4(SCN1A):c.2599T>C (p.Phe867Leu)
NM_001165963.4(SCN1A):c.2601C>A (p.Phe867Leu) rs2105808775
NM_001165963.4(SCN1A):c.2603del (p.Lys868fs) rs794726787
NM_001165963.4(SCN1A):c.2605T>C (p.Leu869=)
NM_001165963.4(SCN1A):c.2607G>A (p.Leu869=)
NM_001165963.4(SCN1A):c.2608G>A (p.Ala870Thr)
NM_001165963.4(SCN1A):c.2608G>C (p.Ala870Pro)
NM_001165963.4(SCN1A):c.2609C>A (p.Ala870Glu)
NM_001165963.4(SCN1A):c.2611A>G (p.Lys871Glu) rs1553541525
NM_001165963.4(SCN1A):c.2615C>A (p.Ser872Tyr) rs794726786
NM_001165963.4(SCN1A):c.2618G>A (p.Trp873Ter) rs2105808640
NM_001165963.4(SCN1A):c.2618G>C (p.Trp873Ser)
NM_001165963.4(SCN1A):c.2619G>T (p.Trp873Cys) rs1553541517
NM_001165963.4(SCN1A):c.2624C>A (p.Thr875Lys) rs121918623
NM_001165963.4(SCN1A):c.2624C>G (p.Thr875Arg) rs121918623
NM_001165963.4(SCN1A):c.2624C>T (p.Thr875Met) rs121918623
NM_001165963.4(SCN1A):c.2627T>G (p.Leu876Ter) rs1696673743
NM_001165963.4(SCN1A):c.262_264+1del rs1574371141
NM_001165963.4(SCN1A):c.2630A>G (p.Asn877Ser)
NM_001165963.4(SCN1A):c.2636T>C (p.Leu879Pro) rs1559200901
NM_001165963.4(SCN1A):c.2636T>G (p.Leu879Arg) rs1559200901
NM_001165963.4(SCN1A):c.2637A>G (p.Leu879=)
NM_001165963.4(SCN1A):c.264+12T>C
NM_001165963.4(SCN1A):c.264+13dup
NM_001165963.4(SCN1A):c.264+1G>A
NM_001165963.4(SCN1A):c.264+1G>C rs1553560677
NM_001165963.4(SCN1A):c.264+3G>A
NM_001165963.4(SCN1A):c.264+3G>C rs746440689
NM_001165963.4(SCN1A):c.264+4_264+7del rs1574370981
NM_001165963.4(SCN1A):c.264+5G>A rs794726762
NM_001165963.4(SCN1A):c.264+5G>C rs794726762
NM_001165963.4(SCN1A):c.2641A>G (p.Lys881Glu) rs1553541502
NM_001165963.4(SCN1A):c.2644del (p.Ile882fs) rs2105808458
NM_001165963.4(SCN1A):c.2648T>C (p.Ile883Thr) rs2105808409
NM_001165963.4(SCN1A):c.264_264+5delinsTGCC rs1553560676
NM_001165963.4(SCN1A):c.265-1G>A rs796052953
NM_001165963.4(SCN1A):c.265-1G>C
NM_001165963.4(SCN1A):c.265-20G>T
NM_001165963.4(SCN1A):c.265-2143G>A rs1574312497
NM_001165963.4(SCN1A):c.265-3C>G rs1553553614
NM_001165963.4(SCN1A):c.265-3C>T rs1553553614
NM_001165963.4(SCN1A):c.265-6_265-5insTG rs2105918730
NM_001165963.4(SCN1A):c.265-7C>T rs761608983
NM_001165963.4(SCN1A):c.265-9G>A
NM_001165963.4(SCN1A):c.2650G>A (p.Gly884Ser)
NM_001165963.4(SCN1A):c.2650G>C (p.Gly884Arg) rs1253956567
NM_001165963.4(SCN1A):c.2651_2656del (p.Gly884_Ser886delinsAla) rs1553541493
NM_001165963.4(SCN1A):c.265del (p.Thr89fs) rs2105918665
NM_001165963.4(SCN1A):c.2660T>A (p.Val887Glu)
NM_001165963.4(SCN1A):c.2661G>C (p.Val887=)
NM_001165963.4(SCN1A):c.2665G>A (p.Ala889Thr) rs1266877537
NM_001165963.4(SCN1A):c.2665del (p.Ala889fs) rs1559200672
NM_001165963.4(SCN1A):c.2667T>G (p.Ala889=)
NM_001165963.4(SCN1A):c.2669T>C (p.Leu890Pro) rs1553541473
NM_001165963.4(SCN1A):c.266C>T (p.Thr89Ile) rs1574302474
NM_001165963.4(SCN1A):c.2670G>A (p.Leu890=)
NM_001165963.4(SCN1A):c.2670G>C (p.Leu890=) rs760568616
NM_001165963.4(SCN1A):c.2671G>A (p.Gly891Arg)
NM_001165963.4(SCN1A):c.2672G>A (p.Gly891Glu)
NM_001165963.4(SCN1A):c.2675A>G (p.Asn892Ser) rs1553541455
NM_001165963.4(SCN1A):c.2678T>A (p.Leu893Ter) rs794726815
NM_001165963.4(SCN1A):c.267T>A (p.Thr89=)
NM_001165963.4(SCN1A):c.2680dup (p.Thr894fs) rs1696660743
NM_001165963.4(SCN1A):c.2681C>A (p.Thr894Asn) rs796052983
NM_001165963.4(SCN1A):c.2684T>C (p.Leu895Pro) rs2105807979
NM_001165963.4(SCN1A):c.2690T>C (p.Leu897Ser) rs794726761
NM_001165963.4(SCN1A):c.2691G>A (p.Leu897=) rs1574183148
NM_001165963.4(SCN1A):c.2691G>T (p.Leu897Phe) rs1574183148
NM_001165963.4(SCN1A):c.2695A>G (p.Ile899Val)
NM_001165963.4(SCN1A):c.2696T>A (p.Ile899Asn)
NM_001165963.4(SCN1A):c.2698A>G (p.Ile900Val) rs1696655187
NM_001165963.4(SCN1A):c.269T>C (p.Phe90Ser) rs121918733
NM_001165963.4(SCN1A):c.2701_2706dup (p.Phe902_Ile903insValPhe)
NM_001165963.4(SCN1A):c.2703C>A (p.Val901=)
NM_001165963.4(SCN1A):c.2705T>G (p.Phe902Cys) rs121918787
NM_001165963.4(SCN1A):c.2710T>G (p.Phe904Val) rs1696653174
NM_001165963.4(SCN1A):c.2716G>C (p.Val906Leu) rs185760342
NM_001165963.4(SCN1A):c.2720T>C (p.Val907Ala)
NM_001165963.4(SCN1A):c.2720T>G (p.Val907Gly)
NM_001165963.4(SCN1A):c.2722G>A (p.Gly908Ser) rs796052984
NM_001165963.4(SCN1A):c.2725A>G (p.Met909Val)
NM_001165963.4(SCN1A):c.2726T>A (p.Met909Lys)
NM_001165963.4(SCN1A):c.2726T>G (p.Met909Arg) rs1559200116
NM_001165963.4(SCN1A):c.2728C>A (p.Gln910Lys) rs794726721
NM_001165963.4(SCN1A):c.2728C>T (p.Gln910Ter) rs794726721
NM_001165963.4(SCN1A):c.2729A>G (p.Gln910Arg) rs1064795735
NM_001165963.4(SCN1A):c.2729A>T (p.Gln910Leu) rs1064795735
NM_001165963.4(SCN1A):c.272T>C (p.Ile91Thr) rs121918734
NM_001165963.4(SCN1A):c.2730G>A (p.Gln910=)
NM_001165963.4(SCN1A):c.2732T>C (p.Leu911Pro)
NM_001165963.4(SCN1A):c.2733C>A (p.Leu911=) rs2105807567
NM_001165963.4(SCN1A):c.2734T>C (p.Phe912Leu)
NM_001165963.4(SCN1A):c.2736del (p.Phe912fs) rs2105807547
NM_001165963.4(SCN1A):c.2737G>C (p.Gly913Arg) rs1696648191
NM_001165963.4(SCN1A):c.2738G>T (p.Gly913Val)
NM_001165963.4(SCN1A):c.2739T>C (p.Gly913=)
NM_001165963.4(SCN1A):c.2744G>A (p.Ser915Asn)
NM_001165963.4(SCN1A):c.2747A>G (p.Tyr916Cys) rs1559200027
NM_001165963.4(SCN1A):c.2748C>A (p.Tyr916Ter)
NM_001165963.4(SCN1A):c.2751del (p.Asp918fs)
NM_001165963.4(SCN1A):c.2754T>C (p.Asp918=) rs2105807413
NM_001165963.4(SCN1A):c.2757T>C (p.Cys919=) rs1553541344
NM_001165963.4(SCN1A):c.2758_2759del (p.Val920fs) rs1574182550
NM_001165963.4(SCN1A):c.2767A>G (p.Ile923Val) rs2105807305
NM_001165963.4(SCN1A):c.2771C>T (p.Ala924Val) rs1696642330
NM_001165963.4(SCN1A):c.2779T>C (p.Cys927Arg) rs2105807206
NM_001165963.4(SCN1A):c.2780G>T (p.Cys927Phe) rs794726811
NM_001165963.4(SCN1A):c.2782C>T (p.Gln928Ter) rs796052985
NM_001165963.4(SCN1A):c.2783A>C (p.Gln928Pro) rs1060502192
NM_001165963.4(SCN1A):c.2787_2794del (p.Pro930fs) rs2105807030
NM_001165963.4(SCN1A):c.278T>C (p.Leu93Ser)
NM_001165963.4(SCN1A):c.278_279dup (p.Asn94Ter) rs1064796213
NM_001165963.4(SCN1A):c.2791C>A (p.Arg931Ser) rs121918788
NM_001165963.4(SCN1A):c.2791C>G (p.Arg931Gly) rs121918788
NM_001165963.4(SCN1A):c.2791C>T (p.Arg931Cys) rs121918788
NM_001165963.4(SCN1A):c.2792G>A (p.Arg931His) rs794726718
NM_001165963.4(SCN1A):c.2792G>C (p.Arg931Pro) rs794726718
NM_001165963.4(SCN1A):c.2792G>T (p.Arg931Leu) rs794726718
NM_001165963.4(SCN1A):c.2796G>A (p.Trp932Ter) rs1553541303
NM_001165963.4(SCN1A):c.2796G>T (p.Trp932Cys) rs1553541303
NM_001165963.4(SCN1A):c.2797C>T (p.His933Tyr) rs886041716
NM_001165963.4(SCN1A):c.2798A>T (p.His933Leu) rs1696637467
NM_001165963.4(SCN1A):c.2800A>C (p.Met934Leu)
NM_001165963.4(SCN1A):c.2800A>G (p.Met934Val) rs1559199628
NM_001165963.4(SCN1A):c.2801T>G (p.Met934Arg) rs796052987
NM_001165963.4(SCN1A):c.2802G>A (p.Met934Ile) rs121918774
NM_001165963.4(SCN1A):c.2802G>C (p.Met934Ile) rs121918774
NM_001165963.4(SCN1A):c.2803A>T (p.Asn935Tyr) rs2105806890
NM_001165963.4(SCN1A):c.2806G>A (p.Asp936Asn) rs796052988
NM_001165963.4(SCN1A):c.2806G>C (p.Asp936His) rs796052988
NM_001165963.4(SCN1A):c.2806G>T (p.Asp936Tyr) rs796052988
NM_001165963.4(SCN1A):c.2807A>C (p.Asp936Ala)
NM_001165963.4(SCN1A):c.2807A>G (p.Asp936Gly)
NM_001165963.4(SCN1A):c.2808C>G (p.Asp936Glu)
NM_001165963.4(SCN1A):c.280A>T (p.Asn94Tyr) rs1699367901
NM_001165963.4(SCN1A):c.2812T>A (p.Phe938Ile)
NM_001165963.4(SCN1A):c.2815C>T (p.His939Tyr) rs121918736
NM_001165963.4(SCN1A):c.2815del (p.His939fs)
NM_001165963.4(SCN1A):c.2817C>A (p.His939Gln) rs121918795
NM_001165963.4(SCN1A):c.2817C>G (p.His939Gln) rs121918795
NM_001165963.4(SCN1A):c.2819C>A (p.Ser940Tyr)
NM_001165963.4(SCN1A):c.2819C>T (p.Ser940Phe) rs1057521080
NM_001165963.4(SCN1A):c.2825T>C (p.Leu942Pro) rs121917943
NM_001165963.4(SCN1A):c.2830G>A (p.Val944Met)
NM_001165963.4(SCN1A):c.2831T>C (p.Val944Ala) rs121917969
NM_001165963.4(SCN1A):c.2833T>C (p.Phe945Leu) rs121917970
NM_001165963.4(SCN1A):c.2835C>G (p.Phe945Leu) rs1696628056
NM_001165963.4(SCN1A):c.2835C>T (p.Phe945=) rs1696628056
NM_001165963.4(SCN1A):c.2836C>A (p.Arg946Ser) rs121918775
NM_001165963.4(SCN1A):c.2836C>T (p.Arg946Cys) rs121918775
NM_001165963.4(SCN1A):c.2837G>A (p.Arg946His)
NM_001165963.4(SCN1A):c.2837G>C (p.Arg946Pro) rs121917971
NM_001165963.4(SCN1A):c.2837G>T (p.Arg946Leu)
NM_001165963.4(SCN1A):c.2839G>A (p.Val947Met) rs796052986
NM_001165963.4(SCN1A):c.2839G>C (p.Val947Leu) rs796052986
NM_001165963.4(SCN1A):c.2846G>A (p.Cys949Tyr) rs1696624989
NM_001165963.4(SCN1A):c.2846G>T (p.Cys949Phe)
NM_001165963.4(SCN1A):c.2847T>A (p.Cys949Ter)
NM_001165963.4(SCN1A):c.2847del (p.Cys949fs)
NM_001165963.4(SCN1A):c.2848G>A (p.Gly950Arg) rs2105806431
NM_001165963.4(SCN1A):c.2849G>A (p.Gly950Glu) rs121917972
NM_001165963.4(SCN1A):c.2851G>A (p.Glu951Lys)
NM_001165963.4(SCN1A):c.2851del (p.Glu951fs) rs886042004
NM_001165963.4(SCN1A):c.2854T>G (p.Trp952Gly) rs121918737
NM_001165963.4(SCN1A):c.2855G>A (p.Trp952Ter) rs2105806338
NM_001165963.4(SCN1A):c.2855G>T (p.Trp952Leu)
NM_001165963.4(SCN1A):c.2856G>A (p.Trp952Ter) rs1553541193
NM_001165963.4(SCN1A):c.2856G>C (p.Trp952Cys) rs1553541193
NM_001165963.4(SCN1A):c.2858T>C (p.Ile953Thr) rs1696621654
NM_001165963.4(SCN1A):c.2859A>G (p.Ile953Met)
NM_001165963.4(SCN1A):c.2860G>A (p.Glu954Lys) rs121918786
NM_001165963.4(SCN1A):c.2860G>C (p.Glu954Gln) rs121918786
NM_001165963.4(SCN1A):c.2861A>G (p.Glu954Gly)
NM_001165963.4(SCN1A):c.2861A>T (p.Glu954Val) rs878854262
NM_001165963.4(SCN1A):c.2862G>C (p.Glu954Asp) rs1041924436
NM_001165963.4(SCN1A):c.2862G>T (p.Glu954Asp) rs1041924436
NM_001165963.4(SCN1A):c.2862_2863dup (p.Thr955fs)
NM_001165963.4(SCN1A):c.2863A>T (p.Thr955Ser) rs2105806212
NM_001165963.4(SCN1A):c.2864C>T (p.Thr955Ile)
NM_001165963.4(SCN1A):c.2867T>C (p.Met956Thr) rs1696619508
NM_001165963.4(SCN1A):c.2868G>A (p.Met956Ile) rs1553541172
NM_001165963.4(SCN1A):c.2869T>C (p.Trp957Arg)
NM_001165963.4(SCN1A):c.2869T>G (p.Trp957Gly) rs1696618804
NM_001165963.4(SCN1A):c.2870G>T (p.Trp957Leu) rs121917917
NM_001165963.4(SCN1A):c.2871G>C (p.Trp957Cys) rs1553541157
NM_001165963.4(SCN1A):c.2872_2881del (p.Asp958fs) rs794726808
NM_001165963.4(SCN1A):c.2875T>C (p.Cys959Arg) rs121918796
NM_001165963.4(SCN1A):c.2875T>G (p.Cys959Gly)
NM_001165963.4(SCN1A):c.2876G>A (p.Cys959Tyr) rs794726716
NM_001165963.4(SCN1A):c.2878A>G (p.Met960Val) rs121918750
NM_001165963.4(SCN1A):c.2879T>A (p.Met960Lys)
NM_001165963.4(SCN1A):c.2879T>C (p.Met960Thr)
NM_001165963.4(SCN1A):c.2879T>G (p.Met960Arg) rs794726708
NM_001165963.4(SCN1A):c.2879dup (p.Met960fs)
NM_001165963.4(SCN1A):c.2883G>A (p.Glu961=)
NM_001165963.4(SCN1A):c.2883_2892del (p.Glu961fs) rs1696611932
NM_001165963.4(SCN1A):c.2887del (p.Ala963fs) rs2105805934
NM_001165963.4(SCN1A):c.2891G>C (p.Gly964Ala)
NM_001165963.4(SCN1A):c.2891G>T (p.Gly964Val)
NM_001165963.4(SCN1A):c.2893C>T (p.Gln965Ter) rs1312664315
NM_001165963.4(SCN1A):c.2899A>G (p.Met967Val)
NM_001165963.4(SCN1A):c.289_290insT (p.Lys97fs)
NM_001165963.4(SCN1A):c.289_292del (p.Lys97fs) rs794726796
NM_001165963.4(SCN1A):c.2903G>A (p.Cys968Tyr) rs794726823
NM_001165963.4(SCN1A):c.2903G>C (p.Cys968Ser)
NM_001165963.4(SCN1A):c.2903G>T (p.Cys968Phe) rs794726823
NM_001165963.4(SCN1A):c.2904C>A (p.Cys968Ter) rs922757507
NM_001165963.4(SCN1A):c.2904C>G (p.Cys968Trp) rs922757507
NM_001165963.4(SCN1A):c.2911_2913del (p.Val971del) rs2105805638
NM_001165963.4(SCN1A):c.2915T>G (p.Phe972Cys) rs2105805621
NM_001165963.4(SCN1A):c.2917A>G (p.Met973Val) rs121917991
NM_001165963.4(SCN1A):c.2921T>G (p.Met974Arg)
NM_001165963.4(SCN1A):c.2923_2931del (p.Val975_Val977del)
NM_001165963.4(SCN1A):c.2926A>G (p.Met976Val)
NM_001165963.4(SCN1A):c.2927T>C (p.Met976Thr) rs1057518325
NM_001165963.4(SCN1A):c.2928G>A (p.Met976Ile) rs1696602585
NM_001165963.4(SCN1A):c.2928G>C (p.Met976Ile) rs1696602585
NM_001165963.4(SCN1A):c.2929G>A (p.Val977Met) rs794726828
NM_001165963.4(SCN1A):c.2929_2944del (p.Val977fs)
NM_001165963.4(SCN1A):c.2931G>A (p.Val977=)
NM_001165963.4(SCN1A):c.2933T>C (p.Ile978Thr) rs1553541028
NM_001165963.4(SCN1A):c.2935G>A (p.Gly979Arg) rs121918754
NM_001165963.4(SCN1A):c.2936G>A (p.Gly979Glu) rs794726842
NM_001165963.4(SCN1A):c.293C>T (p.Ala98Val) rs2105918454
NM_001165963.4(SCN1A):c.2940C>A (p.Asn980Lys) rs2105805349
NM_001165963.4(SCN1A):c.2942T>C (p.Leu981Pro)
NM_001165963.4(SCN1A):c.2944G>A (p.Val982Met)
NM_001165963.4(SCN1A):c.2945T>C (p.Val982Ala)
NM_001165963.4(SCN1A):c.2946+1G>C
NM_001165963.4(SCN1A):c.2946+1G>T rs794726772
NM_001165963.4(SCN1A):c.2946+1_2946+2del rs794726714
NM_001165963.4(SCN1A):c.2946+4T>C rs1390205269
NM_001165963.4(SCN1A):c.2946+5G>A rs1057520486
NM_001165963.4(SCN1A):c.2946+9C>G
NM_001165963.4(SCN1A):c.2947-10T>A rs1696409431
NM_001165963.4(SCN1A):c.2947-12del
NM_001165963.4(SCN1A):c.2947-20A>C rs374476805
NM_001165963.4(SCN1A):c.2947-4del
NM_001165963.4(SCN1A):c.2947G>A (p.Val983Ile) rs1553540503
NM_001165963.4(SCN1A):c.2947G>T (p.Val983Phe) rs1553540503
NM_001165963.4(SCN1A):c.2947del rs1696406839
NM_001165963.4(SCN1A):c.2948T>A (p.Val983Asp) rs121918756
NM_001165963.4(SCN1A):c.2948T>C (p.Val983Ala) rs121918756
NM_001165963.4(SCN1A):c.2948T>G (p.Val983Gly) rs121918756
NM_001165963.4(SCN1A):c.294C>A (p.Ala98=)
NM_001165963.4(SCN1A):c.294C>T (p.Ala98=)
NM_001165963.4(SCN1A):c.2950C>G (p.Leu984Val) rs2105797686
NM_001165963.4(SCN1A):c.2951T>C (p.Leu984Pro) rs2105797671
NM_001165963.4(SCN1A):c.2951T>G (p.Leu984Arg)
NM_001165963.4(SCN1A):c.2954A>T (p.Asn985Ile) rs121918747
NM_001165963.4(SCN1A):c.2955T>A (p.Asn985Lys)
NM_001165963.4(SCN1A):c.2956C>T (p.Leu986Phe) rs121918625
NM_001165963.4(SCN1A):c.2958_2959del (p.Phe987fs) rs794729207
NM_001165963.4(SCN1A):c.295A>G (p.Ile99Val)
NM_001165963.4(SCN1A):c.295_301del (p.Ile99fs) rs1574302195
NM_001165963.4(SCN1A):c.2961T>A (p.Phe987Leu)
NM_001165963.4(SCN1A):c.2961del (p.Leu988fs) rs1696403750
NM_001165963.4(SCN1A):c.2963T>G (p.Leu988Arg) rs1696403356
NM_001165963.4(SCN1A):c.2964G>A (p.Leu988=)
NM_001165963.4(SCN1A):c.2966C>T (p.Ala989Val) rs796052990
NM_001165963.4(SCN1A):c.2970G>A (p.Leu990=) rs897883046
NM_001165963.4(SCN1A):c.2970G>C (p.Leu990Phe) rs897883046
NM_001165963.4(SCN1A):c.2971C>T (p.Leu991Phe) rs1696401617
NM_001165963.4(SCN1A):c.2974C>A (p.Leu992Met)
NM_001165963.4(SCN1A):c.2975T>C (p.Leu992Pro) rs1696400496
NM_001165963.4(SCN1A):c.2976G>A (p.Leu992=)
NM_001165963.4(SCN1A):c.2976G>T (p.Leu992=) rs1251469901
NM_001165963.4(SCN1A):c.2977A>G (p.Ser993Gly)
NM_001165963.4(SCN1A):c.297C>T (p.Ile99=)
NM_001165963.4(SCN1A):c.2980_2981del (p.Ser994fs) rs794726830
NM_001165963.4(SCN1A):c.2983T>C (p.Phe995Leu) rs1696398838
NM_001165963.4(SCN1A):c.2984T>G (p.Phe995Cys) rs727504138
NM_001165963.4(SCN1A):c.2985T>G (p.Phe995Leu) rs794726746
NM_001165963.4(SCN1A):c.298T>G (p.Phe100Val)
NM_001165963.4(SCN1A):c.2990C>T (p.Ala997Val)
NM_001165963.4(SCN1A):c.2993A>G (p.Asp998Gly) rs1484321812
NM_001165963.4(SCN1A):c.2993del (p.Asp998fs)
NM_001165963.4(SCN1A):c.2994C>A (p.Asp998Glu) rs796052991
NM_001165963.4(SCN1A):c.2994del (p.Asp998fs) rs796053067
NM_001165963.4(SCN1A):c.2997C>A (p.Asn999Lys)
NM_001165963.4(SCN1A):c.2997C>G (p.Asn999Lys) rs1559195296
NM_001165963.4(SCN1A):c.29G>C (p.Gly10Ala)
NM_001165963.4(SCN1A):c.2T>C (p.Met1Thr) rs1553561023
NM_001165963.4(SCN1A):c.3008C>G (p.Thr1003Ser) rs1343188948
NM_001165963.4(SCN1A):c.3008C>T (p.Thr1003Ile)
NM_001165963.4(SCN1A):c.300C>A (p.Phe100Leu)
NM_001165963.4(SCN1A):c.300C>G (p.Phe100Leu) rs2105918428
NM_001165963.4(SCN1A):c.3016del (p.Asp1006fs) rs1696391291
NM_001165963.4(SCN1A):c.3017del (p.Asp1006fs) rs794726813
NM_001165963.4(SCN1A):c.3018T>C (p.Asp1006=) rs375909896
NM_001165963.4(SCN1A):c.3019A>G (p.Asn1007Asp) rs1696389624
NM_001165963.4(SCN1A):c.301C>T (p.Arg101Trp) rs121917965
NM_001165963.4(SCN1A):c.302G>A (p.Arg101Gln) rs121917918
NM_001165963.4(SCN1A):c.3032A>T (p.Asn1011Ile) rs121918759
NM_001165963.4(SCN1A):c.3035T>C (p.Leu1012Pro)
NM_001165963.4(SCN1A):c.3038_3044del (p.Gln1013fs)
NM_001165963.4(SCN1A):c.303G>A (p.Arg101=)
NM_001165963.4(SCN1A):c.3043G>A (p.Ala1015Thr)
NM_001165963.4(SCN1A):c.3045T>C (p.Ala1015=)
NM_001165963.4(SCN1A):c.3046G>A (p.Val1016Met) rs370857858
NM_001165963.4(SCN1A):c.3051T>C (p.Asp1017=)
NM_001165963.4(SCN1A):c.3054G>A (p.Arg1018=)
NM_001165963.4(SCN1A):c.3058C>G (p.His1020Asp)
NM_001165963.4(SCN1A):c.305T>C (p.Phe102Ser) rs2105918357
NM_001165963.4(SCN1A):c.3062_3066del (p.Lys1021fs) rs794726756
NM_001165963.4(SCN1A):c.3066A>G (p.Gly1022=) rs1696380602
NM_001165963.4(SCN1A):c.3069A>T (p.Val1023=)
NM_001165963.4(SCN1A):c.3075T>A (p.Tyr1025Ter)
NM_001165963.4(SCN1A):c.3075T>G (p.Tyr1025Ter)
NM_001165963.4(SCN1A):c.3076del (p.Tyr1025_Val1026insTer)
NM_001165963.4(SCN1A):c.307A>G (p.Ser103Gly) rs121918743
NM_001165963.4(SCN1A):c.308G>T (p.Ser103Ile) rs760361423
NM_001165963.4(SCN1A):c.309T>C (p.Ser103=)
NM_001165963.4(SCN1A):c.311C>A (p.Ala104Asp) rs1553553527
NM_001165963.4(SCN1A):c.312C>A (p.Ala104=) rs771566556
NM_001165963.4(SCN1A):c.312C>T (p.Ala104=)
NM_001165963.4(SCN1A):c.312del (p.Thr105fs) rs1060502187
NM_001165963.4(SCN1A):c.313A>T (p.Thr105Ser)
NM_001165963.4(SCN1A):c.314C>A (p.Thr105Asn)
NM_001165963.4(SCN1A):c.316del (p.Ser106fs)
NM_001165963.4(SCN1A):c.318T>C (p.Ser106=)
NM_001165963.4(SCN1A):c.319G>T (p.Ala107Ser) rs745404213
NM_001165963.4(SCN1A):c.31C>T (p.Pro11Ser) rs1684706255
NM_001165963.4(SCN1A):c.322C>G (p.Leu108Val)
NM_001165963.4(SCN1A):c.323T>A (p.Leu108Gln) rs794726793
NM_001165963.4(SCN1A):c.323T>C (p.Leu108Pro) rs794726793
NM_001165963.4(SCN1A):c.326A>T (p.Tyr109Phe)
NM_001165963.4(SCN1A):c.329T>A (p.Ile110Asn)
NM_001165963.4(SCN1A):c.332_333insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGCCCTGTACATTTT (p.Leu111delinsPhePhePhePhePhePhePheXaaXaaXaaXaaLeuValIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer)
NM_001165963.4(SCN1A):c.335C>T (p.Thr112Ile) rs121918745
NM_001165963.4(SCN1A):c.337C>A (p.Pro113Thr) rs794726711
NM_001165963.4(SCN1A):c.337C>T (p.Pro113Ser) rs794726711
NM_001165963.4(SCN1A):c.338C>G (p.Pro113Arg) rs1553553462
NM_001165963.4(SCN1A):c.338C>T (p.Pro113Leu) rs1553553462
NM_001165963.4(SCN1A):c.340T>G (p.Phe114Val)
NM_001165963.4(SCN1A):c.3430-1552_3481del
NM_001165963.4(SCN1A):c.344A>G (p.Asn115Ser) rs1699357096
NM_001165963.4(SCN1A):c.345T>A (p.Asn115Lys) rs61741123
NM_001165963.4(SCN1A):c.350T>C (p.Leu117Pro) rs1064796384
NM_001165963.4(SCN1A):c.352A>G (p.Arg118Gly) rs2105917940
NM_001165963.4(SCN1A):c.353G>A (p.Arg118Lys)
NM_001165963.4(SCN1A):c.354G>A (p.Arg118=) rs121917959
NM_001165963.4(SCN1A):c.354G>C (p.Arg118Ser) rs121917959
NM_001165963.4(SCN1A):c.354G>T (p.Arg118Ser) rs121917959
NM_001165963.4(SCN1A):c.361G>C (p.Ala121Pro) rs1699353976
NM_001165963.4(SCN1A):c.362C>G (p.Ala121Gly)
NM_001165963.4(SCN1A):c.364A>G (p.Ile122Val) rs1405137253
NM_001165963.4(SCN1A):c.367A>G (p.Lys123Glu)
NM_001165963.4(SCN1A):c.367A>T (p.Lys123Ter)
NM_001165963.4(SCN1A):c.36del (p.Asp12fs) rs1684704927
NM_001165963.4(SCN1A):c.371T>A (p.Ile124Asn) rs121918761
NM_001165963.4(SCN1A):c.371T>G (p.Ile124Ser) rs121918761
NM_001165963.4(SCN1A):c.373T>G (p.Leu125Val)
NM_001165963.4(SCN1A):c.376G>A (p.Val126Ile) rs1699350822
NM_001165963.4(SCN1A):c.377T>A (p.Val126Glu)
NM_001165963.4(SCN1A):c.377T>C (p.Val126Ala) rs1699350522
NM_001165963.4(SCN1A):c.377T>G (p.Val126Gly)
NM_001165963.4(SCN1A):c.379C>T (p.His127Tyr) rs148442069
NM_001165963.4(SCN1A):c.380A>T (p.His127Leu) rs794726831
NM_001165963.4(SCN1A):c.383+13A>T rs2105917631
NM_001165963.4(SCN1A):c.383+1A>G rs794726803
NM_001165963.4(SCN1A):c.383+2T>C
NM_001165963.4(SCN1A):c.383+5C>G rs1060502185
NM_001165963.4(SCN1A):c.383+6C>T
NM_001165963.4(SCN1A):c.383+7T>C rs1553553397
NM_001165963.4(SCN1A):c.383C>A (p.Ser128Ter) rs2105917674
NM_001165963.4(SCN1A):c.384-10_384-5del rs1574291168
NM_001165963.4(SCN1A):c.384-12A>C rs1574291210
NM_001165963.4(SCN1A):c.384-16C>T
NM_001165963.4(SCN1A):c.384-1C>G rs794726764
NM_001165963.4(SCN1A):c.384-1C>T rs794726764
NM_001165963.4(SCN1A):c.384-2A>G
NM_001165963.4(SCN1A):c.384-3T>G
NM_001165963.4(SCN1A):c.384-5C>A
NM_001165963.4(SCN1A):c.384-5C>T rs781505393
NM_001165963.4(SCN1A):c.384-8T>A rs2105910106
NM_001165963.4(SCN1A):c.384_1662dup
NM_001165963.4(SCN1A):c.38G>T (p.Ser13Ile) rs1684704155
NM_001165963.4(SCN1A):c.392G>A (p.Ser131Asn) rs1699154477
NM_001165963.4(SCN1A):c.393C>G (p.Ser131Arg) rs1574290971
NM_001165963.4(SCN1A):c.396G>T (p.Met132Ile) rs1699153534
NM_001165963.4(SCN1A):c.397C>A (p.Leu133Ile)
NM_001165963.4(SCN1A):c.397C>G (p.Leu133Val) rs1553552411
NM_001165963.4(SCN1A):c.398T>C (p.Leu133Pro)
NM_001165963.4(SCN1A):c.398T>G (p.Leu133Arg) rs1131691440
NM_001165963.4(SCN1A):c.3G>A (p.Met1Ile) rs1553561016
NM_001165963.4(SCN1A):c.402T>A (p.Ile134=)
NM_001165963.4(SCN1A):c.404T>A (p.Met135Lys)
NM_001165963.4(SCN1A):c.404T>C (p.Met135Thr) rs1574290850
NM_001165963.4(SCN1A):c.408C>G (p.Cys136Trp)
NM_001165963.4(SCN1A):c.409A>C (p.Thr137Pro) rs2105909854
NM_001165963.4(SCN1A):c.412A>G (p.Ile138Val)
NM_001165963.4(SCN1A):c.416T>G (p.Leu139Trp) rs1553552378
NM_001165963.4(SCN1A):c.417G>C (p.Leu139Phe) rs1699149959
NM_001165963.4(SCN1A):c.423C>A (p.Asn141Lys) rs1559249734
NM_001165963.4(SCN1A):c.424T>C (p.Cys142Arg)
NM_001165963.4(SCN1A):c.427_430del (p.Val143fs) rs1699147493
NM_001165963.4(SCN1A):c.429_430del (p.Phe144fs) rs1699147493
NM_001165963.4(SCN1A):c.4338_6030del (p.Asn1446_Gly2008del)
NM_001165963.4(SCN1A):c.433A>G (p.Met145Val) rs794726849
NM_001165963.4(SCN1A):c.434T>C (p.Met145Thr) rs121918631
NM_001165963.4(SCN1A):c.434T>G (p.Met145Arg) rs121918631
NM_001165963.4(SCN1A):c.437C>A (p.Thr146Lys)
NM_001165963.4(SCN1A):c.437C>G (p.Thr146Arg)
NM_001165963.4(SCN1A):c.441G>A (p.Met147Ile)
NM_001165963.4(SCN1A):c.447C>A (p.Asn149Lys) rs1484003948
NM_001165963.4(SCN1A):c.447C>T (p.Asn149=) rs1484003948
NM_001165963.4(SCN1A):c.449dup (p.Pro151fs)
NM_001165963.4(SCN1A):c.452C>A (p.Pro151His)
NM_001165963.4(SCN1A):c.454dup (p.Asp152fs) rs1553552319
NM_001165963.4(SCN1A):c.456T>C (p.Asp152=) rs2105909589
NM_001165963.4(SCN1A):c.459G>A (p.Trp153Ter) rs1553552310
NM_001165963.4(SCN1A):c.460A>G (p.Thr154Ala) rs1317965295
NM_001165963.4(SCN1A):c.468T>A (p.Asn156Lys)
NM_001165963.4(SCN1A):c.468T>G (p.Asn156Lys) rs1250844959
NM_001165963.4(SCN1A):c.46TTC[1] (p.Phe17del) rs2105984083
NM_001165963.4(SCN1A):c.471_473+6del
NM_001165963.4(SCN1A):c.472G>C (p.Glu158Gln) rs796053090
NM_001165963.4(SCN1A):c.473+11C>T rs764054718
NM_001165963.4(SCN1A):c.473+17T>C
NM_001165963.4(SCN1A):c.473+1G>A rs794726840
NM_001165963.4(SCN1A):c.473+1G>C rs794726840
NM_001165963.4(SCN1A):c.473+5G>A rs1064794634
NM_001165963.4(SCN1A):c.473+5G>C rs1064794634
NM_001165963.4(SCN1A):c.474-10T>C
NM_001165963.4(SCN1A):c.474-15G>C
NM_001165963.4(SCN1A):c.474-15G>T rs2105902861
NM_001165963.4(SCN1A):c.474-16G>C
NM_001165963.4(SCN1A):c.474-17del
NM_001165963.4(SCN1A):c.474-1G>A rs1698962501
NM_001165963.4(SCN1A):c.474-2A>G
NM_001165963.4(SCN1A):c.474_602del (p.Thr160_Tyr202del) rs1553551314
NM_001165963.4(SCN1A):c.476dup (p.Tyr159Ter)
NM_001165963.4(SCN1A):c.477C>A (p.Tyr159Ter) rs748508725
NM_001165963.4(SCN1A):c.478A>T (p.Thr160Ser)
NM_001165963.4(SCN1A):c.478del (p.Thr160fs) rs2105902725
NM_001165963.4(SCN1A):c.479C>A (p.Thr160Asn) rs1698961617
NM_001165963.4(SCN1A):c.480del (p.Phe161fs) rs2105902701
NM_001165963.4(SCN1A):c.484A>C (p.Thr162Pro) rs121917934
NM_001165963.4(SCN1A):c.485C>T (p.Thr162Ile) rs1698960532
NM_001165963.4(SCN1A):c.487_496del (p.Gly163fs) rs1698958802
NM_001165963.4(SCN1A):c.488G>A (p.Gly163Glu) rs1698959938
NM_001165963.4(SCN1A):c.493T>C (p.Tyr165His) rs1553551493
NM_001165963.4(SCN1A):c.494A>G (p.Tyr165Cys)
NM_001165963.4(SCN1A):c.495T>A (p.Tyr165Ter)
NM_001165963.4(SCN1A):c.495_496del (p.Thr166fs) rs1698958540
NM_001165963.4(SCN1A):c.49T>A (p.Phe17Ile)
NM_001165963.4(SCN1A):c.502G>A (p.Glu168Lys) rs1553551483
NM_001165963.4(SCN1A):c.505T>C (p.Ser169Pro) rs796052957
NM_001165963.4(SCN1A):c.506C>G (p.Ser169Ter) rs2105902476
NM_001165963.4(SCN1A):c.509T>A (p.Leu170His)
NM_001165963.4(SCN1A):c.509_510del (p.Leu170fs) rs2105902424
NM_001165963.4(SCN1A):c.512T>A (p.Ile171Lys) rs121918766
NM_001165963.4(SCN1A):c.517A>T (p.Ile173Phe)
NM_001165963.4(SCN1A):c.517dup (p.Ile173fs) rs2105902354
NM_001165963.4(SCN1A):c.518T>A (p.Ile173Asn)
NM_001165963.4(SCN1A):c.519T>G (p.Ile173Met) rs1283681963
NM_001165963.4(SCN1A):c.522T>C (p.Ile174=)
NM_001165963.4(SCN1A):c.523G>A (p.Ala175Thr) rs121918767
NM_001165963.4(SCN1A):c.524C>T (p.Ala175Val)
NM_001165963.4(SCN1A):c.530G>A (p.Gly177Glu) rs121918770
NM_001165963.4(SCN1A):c.530G>C (p.Gly177Ala)
NM_001165963.4(SCN1A):c.530G>T (p.Gly177Val) rs121918770
NM_001165963.4(SCN1A):c.530_531insTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCNNNNNNNNNNAAAAAAAAAAAAAAATTATTGCAAGGGG (p.Phe178fs)
NM_001165963.4(SCN1A):c.531A>T (p.Gly177=)
NM_001165963.4(SCN1A):c.532T>C (p.Phe178Leu)
NM_001165963.4(SCN1A):c.533T>C (p.Phe178Ser) rs1698951764
NM_001165963.4(SCN1A):c.539T>A (p.Leu180Ter) rs1574281711
NM_001165963.4(SCN1A):c.539T>G (p.Leu180Ter) rs1574281711
NM_001165963.4(SCN1A):c.539del (p.Cys179_Leu180insTer)
NM_001165963.4(SCN1A):c.540AGA[1] (p.Glu181del)
NM_001165963.4(SCN1A):c.541G>A (p.Glu181Lys)
NM_001165963.4(SCN1A):c.541G>T (p.Glu181Ter)
NM_001165963.4(SCN1A):c.541del (p.Glu181fs) rs2105902170
NM_001165963.4(SCN1A):c.542A>G (p.Glu181Gly) rs1559245947
NM_001165963.4(SCN1A):c.544G>C (p.Asp182His)
NM_001165963.4(SCN1A):c.546T>C (p.Asp182=)
NM_001165963.4(SCN1A):c.549_558del (p.Thr184fs)
NM_001165963.4(SCN1A):c.549dup (p.Thr184fs) rs1553551425
NM_001165963.4(SCN1A):c.54C>T (p.Thr18=)
NM_001165963.4(SCN1A):c.550A>G (p.Thr184Ala)
NM_001165963.4(SCN1A):c.550A>T (p.Thr184Ser) rs368798811
NM_001165963.4(SCN1A):c.551C>T (p.Thr184Ile) rs1698949011
NM_001165963.4(SCN1A):c.5573G>T (p.Ser1858Ile)
NM_001165963.4(SCN1A):c.557T>C (p.Leu186Pro) rs1559245847
NM_001165963.4(SCN1A):c.560G>C (p.Arg187Pro)
NM_001165963.4(SCN1A):c.563A>T (p.Asp188Val) rs121917953
NM_001165963.4(SCN1A):c.564_571del (p.Asp188fs)
NM_001165963.4(SCN1A):c.565C>G (p.Pro189Ala) rs886055046
NM_001165963.4(SCN1A):c.566del (p.Pro189fs) rs1553551385
NM_001165963.4(SCN1A):c.568T>C (p.Trp190Arg) rs121918773
NM_001165963.4(SCN1A):c.56G>A (p.Arg19Lys) rs1479913332
NM_001165963.4(SCN1A):c.571A>T (p.Asn191Tyr) rs121918762
NM_001165963.4(SCN1A):c.573C>G (p.Asn191Lys)
NM_001165963.4(SCN1A):c.574T>C (p.Trp192Arg)
NM_001165963.4(SCN1A):c.575G>A (p.Trp192Ter) rs1698943949
NM_001165963.4(SCN1A):c.576G>A (p.Trp192Ter) rs1553551361
NM_001165963.4(SCN1A):c.580G>A (p.Asp194Asn) rs121917935
NM_001165963.4(SCN1A):c.580G>T (p.Asp194Tyr) rs121917935
NM_001165963.4(SCN1A):c.591del (p.Ile198fs) rs1698941202
NM_001165963.4(SCN1A):c.592A>G (p.Ile198Val)
NM_001165963.4(SCN1A):c.596C>G (p.Thr199Arg) rs121917983
NM_001165963.4(SCN1A):c.596C>T (p.Thr199Ile) rs121917983
NM_001165963.4(SCN1A):c.596del (p.Thr199fs) rs2105901754
NM_001165963.4(SCN1A):c.602+1G>A
NM_001165963.4(SCN1A):c.602+1G>C rs794726827
NM_001165963.4(SCN1A):c.602+1G>T rs794726827
NM_001165963.4(SCN1A):c.602+1del rs2105901693
NM_001165963.4(SCN1A):c.602+2dup rs796053054
NM_001165963.4(SCN1A):c.602+3A>C rs794726833
NM_001165963.4(SCN1A):c.602+5G>A
NM_001165963.4(SCN1A):c.602+5G>C
NM_001165963.4(SCN1A):c.602+6_602+7dup rs577627288
NM_001165963.4(SCN1A):c.602C>A (p.Ala201Glu) rs1553551312
NM_001165963.4(SCN1A):c.602C>T (p.Ala201Val) rs1553551312
NM_001165963.4(SCN1A):c.603-12T>G
NM_001165963.4(SCN1A):c.603-12_603-11insTA
NM_001165963.4(SCN1A):c.603-17_603-12delinsACGTA
NM_001165963.4(SCN1A):c.603-1G>A rs796052959
NM_001165963.4(SCN1A):c.603-23TG[3] rs2105895518
NM_001165963.4(SCN1A):c.603-2A>C
NM_001165963.4(SCN1A):c.603-2A>G rs1057519531
NM_001165963.4(SCN1A):c.603-3C>A
NM_001165963.4(SCN1A):c.603-3C>G
NM_001165963.4(SCN1A):c.603-8T>C
NM_001165963.4(SCN1A):c.603G>A (p.Ala201=)
NM_001165963.4(SCN1A):c.605A>G (p.Tyr202Cys)
NM_001165963.4(SCN1A):c.606C>A (p.Tyr202Ter) rs374555589
NM_001165963.4(SCN1A):c.612A>G (p.Thr204=) rs2105895390
NM_001165963.4(SCN1A):c.613G>T (p.Glu205Ter)
NM_001165963.4(SCN1A):c.622G>A (p.Asp208Asn) rs1698748633
NM_001165963.4(SCN1A):c.626T>C (p.Leu209Pro)
NM_001165963.4(SCN1A):c.626T>G (p.Leu209Arg)
NM_001165963.4(SCN1A):c.629G>A (p.Gly210Asp) rs1698747852
NM_001165963.4(SCN1A):c.632A>C (p.Asn211Thr) rs1553550618
NM_001165963.4(SCN1A):c.632A>G (p.Asn211Ser) rs1553550618
NM_001165963.4(SCN1A):c.632del (p.Asn211fs)
NM_001165963.4(SCN1A):c.635T>C (p.Val212Ala) rs551068385
NM_001165963.4(SCN1A):c.640G>A (p.Ala214Thr) rs1574272597
NM_001165963.4(SCN1A):c.642A>G (p.Ala214=)
NM_001165963.4(SCN1A):c.647G>C (p.Arg216Thr)
NM_001165963.4(SCN1A):c.648A>G (p.Arg216=) rs2105895159
NM_001165963.4(SCN1A):c.64_65del (p.Leu22fs)
NM_001165963.4(SCN1A):c.650C>A (p.Thr217Lys) rs121917936
NM_001165963.4(SCN1A):c.650C>T (p.Thr217Ile)
NM_001165963.4(SCN1A):c.655A>G (p.Arg219Gly) rs1553550574
NM_001165963.4(SCN1A):c.655_964+402del
NM_001165963.4(SCN1A):c.656G>C (p.Arg219Thr) rs796052960
NM_001165963.4(SCN1A):c.657_658del (p.Arg219fs) rs1574272192
NM_001165963.4(SCN1A):c.659_662del (p.Val220fs) rs794726724
NM_001165963.4(SCN1A):c.662T>C (p.Leu221Pro) rs796052961
NM_001165963.4(SCN1A):c.662_663delinsAT (p.Leu221His)
NM_001165963.4(SCN1A):c.664C>G (p.Arg222Gly)
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter) rs121918624
NM_001165963.4(SCN1A):c.665G>A (p.Arg222Gln)
NM_001165963.4(SCN1A):c.66T>C (p.Leu22=) rs2105983989
NM_001165963.4(SCN1A):c.671T>C (p.Leu224Ser) rs796053091
NM_001165963.4(SCN1A):c.673A>G (p.Lys225Glu) rs1574271827
NM_001165963.4(SCN1A):c.675G>A (p.Lys225=) rs794726719
NM_001165963.4(SCN1A):c.675G>C (p.Lys225Asn) rs794726719
NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met) rs121917984
NM_001165963.4(SCN1A):c.680T>G (p.Ile227Ser) rs121917937
NM_001165963.4(SCN1A):c.682T>C (p.Ser228Pro) rs1057519530
NM_001165963.4(SCN1A):c.683C>T (p.Ser228Leu) rs1574271644
NM_001165963.4(SCN1A):c.684del (p.Val229fs) rs1574271602
NM_001165963.4(SCN1A):c.685G>C (p.Val229Leu) rs1698732758
NM_001165963.4(SCN1A):c.689_690insG (p.Ile230fs) rs1698732089
NM_001165963.4(SCN1A):c.68C>A (p.Ala23Glu) rs139397227
NM_001165963.4(SCN1A):c.692C>T (p.Pro231Leu) rs1574271532
NM_001165963.4(SCN1A):c.693A>G (p.Pro231=)
NM_001165963.4(SCN1A):c.693A>T (p.Pro231=)
NM_001165963.4(SCN1A):c.694+16G>C
NM_001165963.4(SCN1A):c.694+17A>G
NM_001165963.4(SCN1A):c.694+18T>C rs2105894631
NM_001165963.4(SCN1A):c.694+1G>A
NM_001165963.4(SCN1A):c.694+3G>A
NM_001165963.4(SCN1A):c.694+5G>A rs727504142
NM_001165963.4(SCN1A):c.694+5G>C rs727504142
NM_001165963.4(SCN1A):c.694+7G>A
NM_001165963.4(SCN1A):c.695-2A>G rs2105890879
NM_001165963.4(SCN1A):c.695G>A (p.Gly232Asp)
NM_001165963.4(SCN1A):c.695_696delinsCG (p.Gly232Ala)
NM_001165963.4(SCN1A):c.696C>T (p.Gly232=)
NM_001165963.4(SCN1A):c.6G>A (p.Glu2=)
NM_001165963.4(SCN1A):c.700A>G (p.Lys234Glu) rs1553549993
NM_001165963.4(SCN1A):c.703A>G (p.Thr235Ala)
NM_001165963.4(SCN1A):c.703del (p.Thr235fs)
NM_001165963.4(SCN1A):c.706A>G (p.Ile236Val)
NM_001165963.4(SCN1A):c.707T>C (p.Ile236Thr) rs886039464
NM_001165963.4(SCN1A):c.708del (p.Ile236fs)
NM_001165963.4(SCN1A):c.709G>A (p.Val237Met)
NM_001165963.4(SCN1A):c.709G>C (p.Val237Leu)
NM_001165963.4(SCN1A):c.70G>A (p.Ala24Thr) rs794726848
NM_001165963.4(SCN1A):c.713G>T (p.Gly238Val) rs1574266490
NM_001165963.4(SCN1A):c.715G>A (p.Ala239Thr) rs121917985
NM_001165963.4(SCN1A):c.715_823del (p.Ala239fs) rs1698596974
NM_001165963.4(SCN1A):c.716C>A (p.Ala239Asp) rs121917909
NM_001165963.4(SCN1A):c.716C>G (p.Ala239Gly) rs121917909
NM_001165963.4(SCN1A):c.716C>T (p.Ala239Val) rs121917909
NM_001165963.4(SCN1A):c.717C>A (p.Ala239=) rs759923734
NM_001165963.4(SCN1A):c.71C>G (p.Ala24Gly) rs1489662325
NM_001165963.4(SCN1A):c.720_740del (p.Ile241_Leu247del)
NM_001165963.4(SCN1A):c.722T>A (p.Ile241Asn)
NM_001165963.4(SCN1A):c.725A>G (p.Gln242Arg) rs1574266328
NM_001165963.4(SCN1A):c.725A>T (p.Gln242Leu) rs1574266328
NM_001165963.4(SCN1A):c.727T>C (p.Ser243Pro)
NM_001165963.4(SCN1A):c.728C>A (p.Ser243Tyr) rs794726755
NM_001165963.4(SCN1A):c.733AAG[1] (p.Lys246del)
NM_001165963.4(SCN1A):c.740T>C (p.Leu247Pro) rs2105890490
NM_001165963.4(SCN1A):c.747T>C (p.Asp249=)
NM_001165963.4(SCN1A):c.747T>G (p.Asp249Glu) rs773407463
NM_001165963.4(SCN1A):c.749T>C (p.Val250Ala)
NM_001165963.4(SCN1A):c.74_264+41del rs2105981661
NM_001165963.4(SCN1A):c.750A>G (p.Val250=)
NM_001165963.4(SCN1A):c.751A>G (p.Met251Val) rs2105890375
NM_001165963.4(SCN1A):c.751A>T (p.Met251Leu) rs2105890375
NM_001165963.4(SCN1A):c.751del (p.Val250_Met251insTer) rs794726751
NM_001165963.4(SCN1A):c.752T>G (p.Met251Arg) rs1553549834
NM_001165963.4(SCN1A):c.754A>C (p.Ile252Leu)
NM_001165963.4(SCN1A):c.755T>A (p.Ile252Asn) rs121918780
NM_001165963.4(SCN1A):c.755T>C (p.Ile252Thr) rs121918780
NM_001165963.4(SCN1A):c.758T>C (p.Leu253Pro) rs2105890296
NM_001165963.4(SCN1A):c.760_763dup (p.Val255fs)
NM_001165963.4(SCN1A):c.761C>T (p.Thr254Ile)
NM_001165963.4(SCN1A):c.762T>C (p.Thr254=) rs1158359748
NM_001165963.4(SCN1A):c.765_766del (p.Phe256fs) rs886041961
NM_001165963.4(SCN1A):c.768C>T (p.Phe256=)
NM_001165963.4(SCN1A):c.769T>C (p.Cys257Arg) rs794726771
NM_001165963.4(SCN1A):c.76G>T (p.Glu26Ter) rs76921794
NM_001165963.4(SCN1A):c.772C>A (p.Leu258Met)
NM_001165963.4(SCN1A):c.773T>C (p.Leu258Pro)
NM_001165963.4(SCN1A):c.773T>G (p.Leu258Arg)
NM_001165963.4(SCN1A):c.774G>A (p.Leu258=)
NM_001165963.4(SCN1A):c.777C>A (p.Ser259Arg) rs121918735
NM_001165963.4(SCN1A):c.777C>G (p.Ser259Arg)
NM_001165963.4(SCN1A):c.780A>G (p.Val260=)
NM_001165963.4(SCN1A):c.787C>G (p.Leu263Val) rs2105890052
NM_001165963.4(SCN1A):c.788T>C (p.Leu263Pro) rs1698602170
NM_001165963.4(SCN1A):c.793G>C (p.Gly265Arg)
NM_001165963.4(SCN1A):c.793G>T (p.Gly265Trp) rs121918749
NM_001165963.4(SCN1A):c.795G>T (p.Gly265=)
NM_001165963.4(SCN1A):c.797T>C (p.Leu266Pro) rs1559238432
NM_001165963.4(SCN1A):c.799C>T (p.Gln267Ter)
NM_001165963.4(SCN1A):c.7C>A (p.Gln3Lys) rs924198007
NM_001165963.4(SCN1A):c.7C>T (p.Gln3Ter)
NM_001165963.4(SCN1A):c.801del (p.Gln267fs)
NM_001165963.4(SCN1A):c.802C>T (p.Leu268=) rs2105889931
NM_001165963.4(SCN1A):c.807C>A (p.Phe269Leu) rs2105889917
NM_001165963.4(SCN1A):c.808A>G (p.Met270Val)
NM_001165963.4(SCN1A):c.809T>C (p.Met270Thr) rs1444023925
NM_001165963.4(SCN1A):c.810G>A (p.Met270Ile) rs2105889888
NM_001165963.4(SCN1A):c.811G>A (p.Gly271Ser) rs2105889878
NM_001165963.4(SCN1A):c.811_815dup (p.Asn272fs) rs1574265144
NM_001165963.4(SCN1A):c.812G>T (p.Gly271Val) rs2105889854
NM_001165963.4(SCN1A):c.816C>T (p.Asn272=) rs1553549713
NM_001165963.4(SCN1A):c.825T>A (p.Asn275Lys) rs2105889740
NM_001165963.4(SCN1A):c.825_826insGTATA (p.Lys276delinsValTer) rs794726812
NM_001165963.4(SCN1A):c.826A>C (p.Lys276Gln) rs794726847
NM_001165963.4(SCN1A):c.829T>C (p.Cys277Arg)
NM_001165963.4(SCN1A):c.830G>A (p.Cys277Tyr) rs1574264920
NM_001165963.4(SCN1A):c.831T>C (p.Cys277=) rs1553549683
NM_001165963.4(SCN1A):c.833T>A (p.Ile278Lys) rs1559238215
NM_001165963.4(SCN1A):c.833T>C (p.Ile278Thr) rs1559238215
NM_001165963.4(SCN1A):c.834A>G (p.Ile278Met)
NM_001165963.4(SCN1A):c.835C>T (p.Gln279Ter)
NM_001165963.4(SCN1A):c.836A>G (p.Gln279Arg)
NM_001165963.4(SCN1A):c.838T>C (p.Trp280Arg) rs121917938
NM_001165963.4(SCN1A):c.839G>A (p.Trp280Ter) rs1698593264
NM_001165963.4(SCN1A):c.83G>T (p.Arg28Leu)
NM_001165963.4(SCN1A):c.840G>A (p.Trp280Ter) rs1553549667
NM_001165963.4(SCN1A):c.841C>T (p.Pro281Ser) rs1553549660
NM_001165963.4(SCN1A):c.842C>G (p.Pro281Arg) rs796052964
NM_001165963.4(SCN1A):c.845C>A (p.Pro282His) rs1698591690
NM_001165963.4(SCN1A):c.852T>C (p.Asn284=) rs748747434
NM_001165963.4(SCN1A):c.861G>A (p.Leu287=) rs568461410
NM_001165963.4(SCN1A):c.861G>C (p.Leu287Phe) rs568461410
NM_001165963.4(SCN1A):c.866A>T (p.Glu289Val) rs2105889320
NM_001165963.4(SCN1A):c.869A>G (p.His290Arg)
NM_001165963.4(SCN1A):c.86T>C (p.Ile29Thr) rs773935383
NM_001165963.4(SCN1A):c.871A>G (p.Ser291Gly) rs2105889285
NM_001165963.4(SCN1A):c.874A>G (p.Ile292Val)
NM_001165963.4(SCN1A):c.87T>G (p.Ile29Met)
NM_001165963.4(SCN1A):c.882G>T (p.Lys294Asn) rs2105889139
NM_001165963.4(SCN1A):c.895A>G (p.Asn299Asp) rs1262121352
NM_001165963.4(SCN1A):c.896_905del (p.Asn299fs) rs794726788
NM_001165963.4(SCN1A):c.901A>G (p.Asn301Asp)
NM_001165963.4(SCN1A):c.903T>C (p.Asn301=)
NM_001165963.4(SCN1A):c.905G>T (p.Gly302Val)
NM_001165963.4(SCN1A):c.905del (p.Gly302fs) rs1574263819
NM_001165963.4(SCN1A):c.907A>T (p.Thr303Ser) rs774358847
NM_001165963.4(SCN1A):c.909A>G (p.Thr303=) rs1559237625
NM_001165963.4(SCN1A):c.911_912del (p.Leu304fs) rs2105888928
NM_001165963.4(SCN1A):c.914T>C (p.Ile305Thr)
NM_001165963.4(SCN1A):c.918T>G (p.Asn306Lys)
NM_001165963.4(SCN1A):c.925G>A (p.Val309Ile)
NM_001165963.4(SCN1A):c.926T>A (p.Val309Asp) rs748918170
NM_001165963.4(SCN1A):c.926_931del (p.Val309_Phe310del) rs2105888808
NM_001165963.4(SCN1A):c.929_930del (p.Val309_Phe310insTer) rs2105888823
NM_001165963.4(SCN1A):c.930_931dup (p.Glu311fs) rs794726846
NM_001165963.4(SCN1A):c.931G>T (p.Glu311Ter)
NM_001165963.4(SCN1A):c.932A>G (p.Glu311Gly) rs1574263480
NM_001165963.4(SCN1A):c.935T>C (p.Phe312Ser) rs886044441
NM_001165963.4(SCN1A):c.938_941del (p.Asp313fs) rs1553549483
NM_001165963.4(SCN1A):c.939del (p.Trp314fs)
NM_001165963.4(SCN1A):c.940T>C (p.Trp314Arg) rs2105888708
NM_001165963.4(SCN1A):c.942G>A (p.Trp314Ter) rs1553549471
NM_001165963.4(SCN1A):c.942G>C (p.Trp314Cys) rs1553549471
NM_001165963.4(SCN1A):c.942G>T (p.Trp314Cys) rs1553549471
NM_001165963.4(SCN1A):c.945G>A (p.Lys315=) rs2105888618
NM_001165963.4(SCN1A):c.947C>A (p.Ser316Ter)
NM_001165963.4(SCN1A):c.947_952dup (p.Tyr317_Ile318insThrTyr)
NM_001165963.4(SCN1A):c.949T>C (p.Tyr317His) rs1553549461
NM_001165963.4(SCN1A):c.94G>A (p.Glu32Lys)
NM_001165963.4(SCN1A):c.955C>T (p.Gln319Ter)
NM_001165963.4(SCN1A):c.956A>G (p.Gln319Arg) rs2105888544
NM_001165963.4(SCN1A):c.958G>T (p.Asp320Tyr) rs777317949
NM_001165963.4(SCN1A):c.964+10_964+12del
NM_001165963.4(SCN1A):c.964+14T>G rs794726837
NM_001165963.4(SCN1A):c.964+1G>A rs1574263047
NM_001165963.4(SCN1A):c.964+2_964+3insAAGATTCAAGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCNNNNNAAAAAAAAAAAAAAAAAAAA
NM_001165963.4(SCN1A):c.964+424_2022del
NM_001165963.4(SCN1A):c.964+4A>T
NM_001165963.4(SCN1A):c.964+4_964+5insAAGATTCAAGTAAAAAAANNNNNGGCCGGGCGCGGTGGCTCACGCCTGTAA
NM_001165963.4(SCN1A):c.965-12T>G rs1396858729
NM_001165963.4(SCN1A):c.965-14_965-11del
NM_001165963.4(SCN1A):c.965-15T>C
NM_001165963.4(SCN1A):c.965-1G>A rs794726824
NM_001165963.4(SCN1A):c.965-2A>G
NM_001165963.4(SCN1A):c.965-3C>A rs1698197579
NM_001165963.4(SCN1A):c.965-5A>G rs1698198046
NM_001165963.4(SCN1A):c.965G>T (p.Arg322Ile) rs121917928
NM_001165963.4(SCN1A):c.967T>A (p.Tyr323Asn) rs2105874638
NM_001165963.4(SCN1A):c.969T>G (p.Tyr323Ter)
NM_001165963.4(SCN1A):c.970C>A (p.His324Asn)
NM_001165963.4(SCN1A):c.971A>G (p.His324Arg) rs796053093
NM_001165963.4(SCN1A):c.974A>G (p.Tyr325Cys) rs1698192456
NM_001165963.4(SCN1A):c.982G>T (p.Glu328Ter)
NM_001165963.4(SCN1A):c.982del (p.Glu328fs) rs2105874493
NM_001165963.4(SCN1A):c.984G>A (p.Glu328=)
NM_001165963.4(SCN1A):c.984_986del (p.Glu328_Gly329delinsAsp) rs2105874408
NM_001165963.4(SCN1A):c.985G>A (p.Gly329Ser) rs781746113
NM_001165963.4(SCN1A):c.985G>T (p.Gly329Cys) rs781746113
NM_001165963.4(SCN1A):c.986G>A (p.Gly329Asp) rs779184118
NM_001165963.4(SCN1A):c.986G>C (p.Gly329Ala) rs779184118
NM_001165963.4(SCN1A):c.986G>T (p.Gly329Val) rs779184118
NM_001165963.4(SCN1A):c.986del (p.Gly329fs) rs1698186316
NM_001165963.4(SCN1A):c.992del (p.Phe330_Leu331insTer)
NM_001165963.4(SCN1A):c.992dup (p.Leu331fs) rs863225038
NM_001165963.4(SCN1A):c.995A>G (p.Asp332Gly) rs796052969
NM_001165963.4(SCN1A):c.997G>A (p.Ala333Thr) rs2105874284
NM_001353961.2(SCN1A):c.-1731del rs1574266816
NM_006920.4(SCN1A):c.384_473del (p.Leu129_Glu158del)
Single allele

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