ClinVar Miner

List of variants in gene SCN1A reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1422
Download table as spreadsheet
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.2143A>C (p.Ser715Arg) rs1349978357 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.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.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.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.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.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)_(166898954_?)del
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.(?_166856213)_(166868812_?)dup
NC_000002.11:g.(?_166858962)_(166859283_?)del
NC_000002.11:g.(?_166868599)_(166900579_?)del
NC_000002.11:g.(?_166894266)_(166894662_?)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.(?_166908336)_(166920943_?)del
NC_000002.11:g.(?_166909342)_(166913030_?)del
NC_000002.11:g.(?_166909397)_(166913500_?)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_001165963.4(SCN1A):c.1001T>C (p.Leu334Pro) rs1559231284
NM_001165963.4(SCN1A):c.1003C>T (p.Leu335=) rs2105874226
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.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>T (p.Ser340Phe)
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>T rs863225030
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>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>C (p.Cys345Arg) rs794726782
NM_001165963.4(SCN1A):c.1035_1038dup (p.Glu347fs)
NM_001165963.4(SCN1A):c.1036C>T (p.Pro346Ser) rs2105868306
NM_001165963.4(SCN1A):c.1038A>G (p.Pro346=) rs1374190185
NM_001165963.4(SCN1A):c.1039G>A (p.Glu347Lys)
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.1048_1049dup (p.Met350fs)
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.1060G>C (p.Ala354Pro) rs1698022280
NM_001165963.4(SCN1A):c.1064G>T (p.Gly355Val) rs1698021918
NM_001165963.4(SCN1A):c.1065T>A (p.Gly355=)
NM_001165963.4(SCN1A):c.1076A>G (p.Asn359Ser) rs794726713
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.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.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.1109G>A (p.Trp370Ter) rs2105867367
NM_001165963.4(SCN1A):c.1110G>T (p.Trp370Cys)
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.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.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.1134A>G (p.Leu378=) rs2105867022
NM_001165963.4(SCN1A):c.1139C>T (p.Thr380Ile)
NM_001165963.4(SCN1A):c.1141C>A (p.Gln381Lys) rs1553547403
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.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.1151G>C (p.Trp384Ser) rs1553547380
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.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.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+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.1171-20T>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.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.1181C>T (p.Ala394Val) rs2105862847
NM_001165963.4(SCN1A):c.1181_1182delinsGA (p.Ala394Gly) rs1559226096
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.118G>A (p.Asp40Asn) rs1574373061
NM_001165963.4(SCN1A):c.1192dup (p.Thr398fs)
NM_001165963.4(SCN1A):c.1198A>G (p.Met400Val)
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.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.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.1220T>A (p.Ile407Asn) rs398123581
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.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.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>T (p.Ala420Val) rs794726826
NM_001165963.4(SCN1A):c.1269del (p.Met424fs) rs1559225495
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.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>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.1301dup (p.Leu434fs) rs794726810
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.1339A>G (p.Met447Val) rs777596738
NM_001165963.4(SCN1A):c.1344T>C (p.Ile448=)
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.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+20T>C rs1178022374
NM_001165963.4(SCN1A):c.1377+20_1377+21delinsAT
NM_001165963.4(SCN1A):c.1377+2T>C rs1697876590
NM_001165963.4(SCN1A):c.1377+3A>C rs1060502191
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.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.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.1422T>G (p.Ser474Arg)
NM_001165963.4(SCN1A):c.1426del (p.Ala476fs) rs1574225593
NM_001165963.4(SCN1A):c.1431C>G (p.Gly477=)
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.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.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.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.1545A>G (p.Lys515=)
NM_001165963.4(SCN1A):c.1548T>C (p.Asp516=) rs1057524611
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.1584_1588del (p.Ser528fs) rs1553545522
NM_001165963.4(SCN1A):c.1586T>C (p.Ile529Thr) rs1166000241
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.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.1662+1G>A rs794726749
NM_001165963.4(SCN1A):c.1662+1G>C 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.1663-15C>A
NM_001165963.4(SCN1A):c.1663-18G>A
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.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.1695A>T (p.Ser565=)
NM_001165963.4(SCN1A):c.1700G>A (p.Arg567Lys) 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.1745dup (p.Asp583fs) rs2105844138
NM_001165963.4(SCN1A):c.1750G>A (p.Val584Met)
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.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.1805A>G (p.Glu602Gly) rs2105843593
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.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.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>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.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.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.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.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.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.1961T>C (p.Val654Ala) rs1697427369
NM_001165963.4(SCN1A):c.1967G>T (p.Gly656Val)
NM_001165963.4(SCN1A):c.1972del (p.Ser658fs) rs2105841828
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.2015T>C (p.Ile672Thr)
NM_001165963.4(SCN1A):c.2020G>C (p.Asp674His) rs1574214734
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+7A>C
NM_001165963.4(SCN1A):c.2043T>G (p.Asn681Lys) rs754934003
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.204T>C (p.Ile68=) rs2105982539
NM_001165963.4(SCN1A):c.2051C>T (p.Thr684Ile) rs1574209746
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.2078G>A (p.Arg693Lys)
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.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.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.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.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+9C>A
NM_001165963.4(SCN1A):c.2176G>T (p.Glu726Ter)
NM_001165963.4(SCN1A):c.2177-14T>C rs2105830037
NM_001165963.4(SCN1A):c.2177-19_2177-18insTG
NM_001165963.4(SCN1A):c.2177-1G>C rs763400390
NM_001165963.4(SCN1A):c.2177-7A>T rs768129301
NM_001165963.4(SCN1A):c.2177-8dup rs747086735
NM_001165963.4(SCN1A):c.2179_2180insA (p.Leu727fs)
NM_001165963.4(SCN1A):c.2183A>G (p.Glu728Gly)
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.2213G>A (p.Trp738Ter) rs794726742
NM_001165963.4(SCN1A):c.2217T>G (p.Tyr739Ter) rs2105829215
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.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.2261G>A (p.Trp754Ter) 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.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.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.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.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.231_247del (p.Glu78fs) rs2105982105
NM_001165963.4(SCN1A):c.2322C>A (p.Ile774=) rs752067973
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>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.2349T>G (p.Leu783=) rs1553543221
NM_001165963.4(SCN1A):c.234G>A (p.Glu78=)
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.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>G (p.Asp79Gly)
NM_001165963.4(SCN1A):c.2370T>C (p.Tyr790=) rs1350896451
NM_001165963.4(SCN1A):c.2371C>G (p.Pro791Ala) rs1697132427
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_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>T (p.Asn804=) rs2105827258
NM_001165963.4(SCN1A):c.2413T>G (p.Leu805Val)
NM_001165963.4(SCN1A):c.2415+16G>A
NM_001165963.4(SCN1A):c.2415+19A>C rs2105827090
NM_001165963.4(SCN1A):c.2415+1del rs2105827235
NM_001165963.4(SCN1A):c.2415+20A>G
NM_001165963.4(SCN1A):c.2415+3_2415+24del rs1553543127
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.2416-17T>C
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>T (p.Asp81Tyr)
NM_001165963.4(SCN1A):c.2422A>C (p.Thr808Pro)
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.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.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.2474A>G (p.Tyr825Cys)
NM_001165963.4(SCN1A):c.2475C>T (p.Tyr825=) rs1696880667
NM_001165963.4(SCN1A):c.247T>G (p.Tyr83Asp) rs1362796016
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.2504T>C (p.Phe835Ser) rs796052981
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.2524C>T (p.Leu842Phe)
NM_001165963.4(SCN1A):c.2525T>G (p.Leu842Arg)
NM_001165963.4(SCN1A):c.252T>A (p.Tyr84Ter) rs2105982029
NM_001165963.4(SCN1A):c.2531T>G (p.Leu844Arg)
NM_001165963.4(SCN1A):c.253A>G (p.Ile85Val) rs1574371287
NM_001165963.4(SCN1A):c.253dup (p.Ile85fs)
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.2579C>A (p.Ser860Ter) rs1574192005
NM_001165963.4(SCN1A):c.257del (p.Asn86fs)
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>T (p.Arg862Leu) rs121918785
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+1G>T rs1057517849
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.2590-2A>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>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.2601C>A (p.Phe867Leu) rs2105808775
NM_001165963.4(SCN1A):c.2607G>A (p.Leu869=)
NM_001165963.4(SCN1A):c.2608G>A (p.Ala870Thr)
NM_001165963.4(SCN1A):c.2609C>A (p.Ala870Glu)
NM_001165963.4(SCN1A):c.2611A>G (p.Lys871Glu) rs1553541525
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>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.2630A>G (p.Asn877Ser)
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.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.265-3C>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>C (p.Gly884Arg) rs1253956567
NM_001165963.4(SCN1A):c.2651_2656del (p.Gly884_Ser886delinsAla) rs1553541493
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.2675A>G (p.Asn892Ser) rs1553541455
NM_001165963.4(SCN1A):c.267T>A (p.Thr89=)
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.2695A>G (p.Ile899Val)
NM_001165963.4(SCN1A):c.2698A>G (p.Ile900Val) rs1696655187
NM_001165963.4(SCN1A):c.2701_2706dup (p.Phe902_Ile903insValPhe)
NM_001165963.4(SCN1A):c.2703C>A (p.Val901=)
NM_001165963.4(SCN1A):c.2716G>C (p.Val906Leu) rs185760342
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>G (p.Met909Arg) rs1559200116
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.2732T>C (p.Leu911Pro)
NM_001165963.4(SCN1A):c.2733C>A (p.Leu911=) rs2105807567
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.2744G>A (p.Ser915Asn)
NM_001165963.4(SCN1A):c.2747A>G (p.Tyr916Cys) rs1559200027
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.2771C>T (p.Ala924Val) rs1696642330
NM_001165963.4(SCN1A):c.2779T>C (p.Cys927Arg) rs2105807206
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>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.2803A>T (p.Asn935Tyr) rs2105806890
NM_001165963.4(SCN1A):c.2806G>A (p.Asp936Asn) rs796052988
NM_001165963.4(SCN1A):c.2807A>C (p.Asp936Ala)
NM_001165963.4(SCN1A):c.2807A>G (p.Asp936Gly)
NM_001165963.4(SCN1A):c.280A>T (p.Asn94Tyr) rs1699367901
NM_001165963.4(SCN1A):c.2812T>A (p.Phe938Ile)
NM_001165963.4(SCN1A):c.2819C>T (p.Ser940Phe) rs1057521080
NM_001165963.4(SCN1A):c.2831T>C (p.Val944Ala) rs121917969
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>T (p.Arg946Cys) rs121918775
NM_001165963.4(SCN1A):c.2837G>A (p.Arg946His)
NM_001165963.4(SCN1A):c.2839G>A (p.Val947Met) rs796052986
NM_001165963.4(SCN1A):c.2846G>A (p.Cys949Tyr) rs1696624989
NM_001165963.4(SCN1A):c.2847T>A (p.Cys949Ter)
NM_001165963.4(SCN1A):c.2848G>A (p.Gly950Arg) rs2105806431
NM_001165963.4(SCN1A):c.2851G>A (p.Glu951Lys)
NM_001165963.4(SCN1A):c.2851del (p.Glu951fs) rs886042004
NM_001165963.4(SCN1A):c.2855G>A (p.Trp952Ter) rs2105806338
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.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>G (p.Trp957Gly) rs1696618804
NM_001165963.4(SCN1A):c.2871G>C (p.Trp957Cys) rs1553541157
NM_001165963.4(SCN1A):c.2875T>C (p.Cys959Arg) rs121918796
NM_001165963.4(SCN1A):c.2875T>G (p.Cys959Gly)
NM_001165963.4(SCN1A):c.2878A>G (p.Met960Val) rs121918750
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.2903G>A (p.Cys968Tyr) rs794726823
NM_001165963.4(SCN1A):c.2903G>C (p.Cys968Ser)
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.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.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.2929_2944del (p.Val977fs)
NM_001165963.4(SCN1A):c.2933T>C (p.Ile978Thr) rs1553541028
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.2946+10C>T rs1574179707
NM_001165963.4(SCN1A):c.2946+1G>C
NM_001165963.4(SCN1A):c.2946+1G>T rs794726772
NM_001165963.4(SCN1A):c.2946+4T>C rs1390205269
NM_001165963.4(SCN1A):c.2946+5G>A rs1057520486
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.2948T>A (p.Val983Asp) rs121918756
NM_001165963.4(SCN1A):c.294C>A (p.Ala98=)
NM_001165963.4(SCN1A):c.2950C>G (p.Leu984Val) rs2105797686
NM_001165963.4(SCN1A):c.2951T>G (p.Leu984Arg)
NM_001165963.4(SCN1A):c.2956C>T (p.Leu986Phe) rs121918625
NM_001165963.4(SCN1A):c.295A>G (p.Ile99Val)
NM_001165963.4(SCN1A):c.295_301del (p.Ile99fs) rs1574302195
NM_001165963.4(SCN1A):c.2961del (p.Leu988fs) rs1696403750
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.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.2983T>C (p.Phe995Leu) rs1696398838
NM_001165963.4(SCN1A):c.2984T>G (p.Phe995Cys) rs727504138
NM_001165963.4(SCN1A):c.298T>G (p.Phe100Val)
NM_001165963.4(SCN1A):c.2993del (p.Asp998fs)
NM_001165963.4(SCN1A):c.2994C>A (p.Asp998Glu) rs796052991
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>T (p.Thr1003Ile)
NM_001165963.4(SCN1A):c.300C>G (p.Phe100Leu) rs2105918428
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.303G>A (p.Arg101=)
NM_001165963.4(SCN1A):c.3043G>A (p.Ala1015Thr)
NM_001165963.4(SCN1A):c.3046G>A (p.Val1016Met) rs370857858
NM_001165963.4(SCN1A):c.3051T>C (p.Asp1017=)
NM_001165963.4(SCN1A):c.3058C>G (p.His1020Asp)
NM_001165963.4(SCN1A):c.305T>C (p.Phe102Ser) rs2105918357
NM_001165963.4(SCN1A):c.3066A>G (p.Gly1022=) rs1696380602
NM_001165963.4(SCN1A):c.3075T>A (p.Tyr1025Ter)
NM_001165963.4(SCN1A):c.3075T>G (p.Tyr1025Ter)
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.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.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>T (p.Pro113Leu) rs1553553462
NM_001165963.4(SCN1A):c.340T>G (p.Phe114Val)
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.353G>A (p.Arg118Lys)
NM_001165963.4(SCN1A):c.354G>A (p.Arg118=) rs121917959
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>T (p.Lys123Ter)
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.383+13A>T rs2105917631
NM_001165963.4(SCN1A):c.383+1A>G rs794726803
NM_001165963.4(SCN1A):c.383+5C>G rs1060502185
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.384-16C>T
NM_001165963.4(SCN1A):c.384-1C>T rs794726764
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.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.404T>A (p.Met135Lys)
NM_001165963.4(SCN1A):c.408C>G (p.Cys136Trp)
NM_001165963.4(SCN1A):c.409A>C (p.Thr137Pro) rs2105909854
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.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+5G>A rs1064794634
NM_001165963.4(SCN1A):c.474-10T>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.477C>A (p.Tyr159Ter) rs748508725
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.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.502G>A (p.Glu168Lys) rs1553551483
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.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.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.541G>A (p.Glu181Lys)
NM_001165963.4(SCN1A):c.541del (p.Glu181fs) rs2105902170
NM_001165963.4(SCN1A):c.542A>G (p.Glu181Gly) rs1559245947
NM_001165963.4(SCN1A):c.546T>C (p.Asp182=)
NM_001165963.4(SCN1A):c.549_558del (p.Thr184fs)
NM_001165963.4(SCN1A):c.550A>G (p.Thr184Ala)
NM_001165963.4(SCN1A):c.551C>T (p.Thr184Ile) rs1698949011
NM_001165963.4(SCN1A):c.557T>C (p.Leu186Pro) rs1559245847
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.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.592A>G (p.Ile198Val)
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+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.603G>A (p.Ala201=)
NM_001165963.4(SCN1A):c.605A>G (p.Tyr202Cys)
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>G (p.Leu209Arg)
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.640G>A (p.Ala214Thr) rs1574272597
NM_001165963.4(SCN1A):c.642A>G (p.Ala214=)
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.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.66T>C (p.Leu22=) rs2105983989
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.677C>T (p.Thr226Met) rs121917984
NM_001165963.4(SCN1A):c.680T>G (p.Ile227Ser) rs121917937
NM_001165963.4(SCN1A):c.685G>C (p.Val229Leu) rs1698732758
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+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.696C>T (p.Gly232=)
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.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.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>G (p.Ala239Gly) 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.725A>T (p.Gln242Leu) rs1574266328
NM_001165963.4(SCN1A):c.727T>C (p.Ser243Pro)
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.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>T (p.Met251Leu) rs2105890375
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>C (p.Ile252Thr) rs121918780
NM_001165963.4(SCN1A):c.760_763dup (p.Val255fs)
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.76G>T (p.Glu26Ter) rs76921794
NM_001165963.4(SCN1A):c.773T>G (p.Leu258Arg)
NM_001165963.4(SCN1A):c.774G>A (p.Leu258=)
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.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.802C>T (p.Leu268=) rs2105889931
NM_001165963.4(SCN1A):c.807C>A (p.Phe269Leu) rs2105889917
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.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>C (p.Ile278Thr) rs1559238215
NM_001165963.4(SCN1A):c.834A>G (p.Ile278Met)
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.841C>T (p.Pro281Ser) rs1553549660
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.86T>C (p.Ile29Thr) rs773935383
NM_001165963.4(SCN1A):c.871A>G (p.Ser291Gly) rs2105889285
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.901A>G (p.Asn301Asp)
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.926T>A (p.Val309Asp) rs748918170
NM_001165963.4(SCN1A):c.926_931del (p.Val309_Phe310del) rs2105888808
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.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.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.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+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.965-3C>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.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.992del (p.Phe330_Leu331insTer)
NM_001165963.4(SCN1A):c.995A>G (p.Asp332Gly) rs796052969
NM_001165963.4(SCN1A):c.997G>A (p.Ala333Thr) rs2105874284

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