ClinVar Miner

List of variants in gene SCN1A studied for not provided

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 718
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.-49-34A>T rs566839 0.98809
NM_001165963.4(SCN1A):c.2589+208A>G rs1019724 0.74828
NM_001165963.4(SCN1A):c.2416-256C>T rs1019722 0.74053
NM_001165963.4(SCN1A):c.1171-270G>T rs13421166 0.73932
NM_001165963.4(SCN1A):c.1029-68C>T rs1461193 0.73918
NM_001165963.4(SCN1A):c.2416-181A>C rs6432859 0.73910
NM_001165963.4(SCN1A):c.2043+301C>T rs7574618 0.73909
NM_001165963.4(SCN1A):c.2044-168A>T rs10167228 0.73906
NM_001165963.4(SCN1A):c.2292T>C (p.Val764=) rs6432860 0.73885
NM_001165963.4(SCN1A):c.1663-47T>G rs6753355 0.73880
NM_001165963.4(SCN1A):c.2947-41C>T rs7601520 0.73875
NM_001165963.4(SCN1A):c.2946+56A>G rs2020318 0.73869
NM_001165963.4(SCN1A):c.2590-239A>G rs6719077 0.73687
NM_001165963.4(SCN1A):c.603-106G>T rs3812719 0.67746
NM_001165963.4(SCN1A):c.964+258G>A rs6735104 0.66191
NM_001165963.4(SCN1A):c.1212A>G (p.Val404=) rs7580482 0.66162
NM_001165963.4(SCN1A):c.1378-266T>A rs992894 0.66153
NM_001165963.4(SCN1A):c.265-137G>T rs10930201 0.66082
NM_001165963.4(SCN1A):c.694+258G>A rs1841546 0.49844
NM_001165963.4(SCN1A):c.694+232_694+233insA rs367905968 0.49114
NM_001165963.4(SCN1A):c.2589+172T>C rs1019723 0.48517
NM_001165963.4(SCN1A):c.1377+52G>A rs6432861 0.48236
NM_001165963.4(SCN1A):c.965-113A>T rs1542483 0.48229
NM_001165963.4(SCN1A):c.1171-174A>G rs13383628 0.48214
NM_001165963.4(SCN1A):c.1028+21T>C rs1542484 0.48206
NM_001165963.4(SCN1A):c.1170+112C>T rs11690959 0.48005
NM_001165963.4(SCN1A):c.603-242T>C rs2217199 0.47972
NM_001165963.4(SCN1A):c.473+164G>A rs1461203 0.46950
NM_001165963.4(SCN1A):c.383+185T>C rs7564306 0.46949
NM_001165963.4(SCN1A):c.474-310A>G rs1541783 0.25870
NM_001165963.4(SCN1A):c.1170+75C>A rs11690962 0.25866
NM_001165963.4(SCN1A):c.2589+114T>C rs10168027 0.25833
NM_001165963.4(SCN1A):c.2177-38C>A rs10198801 0.25381
NM_001165963.4(SCN1A):c.965-215T>C rs6432863 0.24269
NM_001165963.4(SCN1A):c.383+66T>C rs8191987 0.18995
NM_001165963.4(SCN1A):c.2177-270A>G rs6731591 0.18963
NM_001165963.4(SCN1A):c.964+116A>T rs6750294 0.18177
NM_001165963.4(SCN1A):c.964+199T>G rs6706163 0.18121
NM_001165963.4(SCN1A):c.2590-285A>G rs79990586 0.18055
NM_001165963.4(SCN1A):c.965-310G>C rs994398 0.12911
NM_001165963.4(SCN1A):c.694+184G>A rs10497277 0.03940
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.1663-278C>T rs115015575 0.02948
NM_001165963.4(SCN1A):c.2043+107G>A rs111489104 0.02925
NM_001165963.4(SCN1A):c.1029-177C>T rs77256975 0.02834
NM_001165963.4(SCN1A):c.2946+77A>G rs116647099 0.02481
NM_001165963.4(SCN1A):c.474-333T>G rs76716692 0.02318
NM_001165963.4(SCN1A):c.383+335G>A rs79554951 0.02047
NM_001165963.4(SCN1A):c.474-113T>C rs10930200 0.02027
NM_001165963.4(SCN1A):c.964+41T>A rs74655577 0.01978
NM_001165963.4(SCN1A):c.2947-125G>T rs41265139 0.00989
NM_001165963.4(SCN1A):c.964+185T>A rs73022800 0.00872
NM_001165963.4(SCN1A):c.384-20G>C rs192956852 0.00635
NM_001165963.4(SCN1A):c.2590-227A>G rs142984238 0.00619
NM_001165963.4(SCN1A):c.2177-10C>T rs199507113 0.00579
NM_001165963.4(SCN1A):c.265-226T>C rs141977446 0.00447
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.1625G>A (p.Arg542Gln) rs121918817 0.00154
NM_001165963.4(SCN1A):c.68C>T (p.Ala23Val) rs139397227 0.00138
NM_001165963.4(SCN1A):c.2176+44C>T rs75022359 0.00113
NM_001165963.4(SCN1A):c.1029-47A>G rs201418120 0.00096
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.1171-25A>G rs199556404 0.00053
NM_001165963.4(SCN1A):c.2415+38A>G rs367846035 0.00032
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.694+10A>G rs373417440 0.00019
NM_001165963.4(SCN1A):c.1710C>T (p.Ser570=) rs770432127 0.00018
NM_001165963.4(SCN1A):c.2177-43G>A rs767120609 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.2946+19T>C rs180873219 0.00008
NM_001165963.4(SCN1A):c.1810C>T (p.Arg604Cys) rs148371904 0.00007
NM_001165963.4(SCN1A):c.1028+35T>C rs148126815 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.2177-29G>C rs763828472 0.00006
NM_001165963.4(SCN1A):c.333A>G (p.Leu111=) rs201592683 0.00006
NM_001165963.4(SCN1A):c.80G>C (p.Arg27Thr) rs121917906 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.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.3060C>A (p.His1020Gln) rs150154265 0.00005
NM_001165963.4(SCN1A):c.1604G>A (p.Arg535His) rs184524479 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.875T>C (p.Ile292Thr) rs766503699 0.00004
NM_001165963.4(SCN1A):c.1029-11C>G rs561758475 0.00003
NM_001165963.4(SCN1A):c.1220T>C (p.Ile407Thr) rs398123581 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.2201G>A (p.Cys734Tyr) rs1247949520 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.791T>C (p.Ile264Thr) rs745664511 0.00003
NM_001165963.4(SCN1A):c.854C>T (p.Ala285Val) rs755598644 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.1641G>T (p.Lys547Asn) rs550770894 0.00002
NM_001165963.4(SCN1A):c.1652C>T (p.Ser551Phe) rs1396476288 0.00002
NM_001165963.4(SCN1A):c.1882T>A (p.Ser628Thr) rs752639991 0.00002
NM_001165963.4(SCN1A):c.1980T>G (p.Pro660=) rs1379958414 0.00002
NM_001165963.4(SCN1A):c.1988C>T (p.Pro663Leu) rs370481828 0.00002
NM_001165963.4(SCN1A):c.2007A>G (p.Pro669=) rs993370830 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.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.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.3044C>T (p.Ala1015Val) rs772487501 0.00002
NM_001165963.4(SCN1A):c.384-9A>G rs371926865 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.972T>C (p.His324=) rs886042203 0.00002
NM_001165963.4(SCN1A):c.1029-12C>T rs772513720 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.1225T>C (p.Leu409=) rs770033555 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.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.1546G>A (p.Asp516Asn) rs757923791 0.00001
NM_001165963.4(SCN1A):c.1603C>T (p.Arg535Cys) rs761062389 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.1696C>T (p.Pro566Ser) rs886044645 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.1818T>C (p.Asp606=) rs727504141 0.00001
NM_001165963.4(SCN1A):c.1842C>T (p.His614=) rs370463183 0.00001
NM_001165963.4(SCN1A):c.1852C>T (p.Arg618Cys) rs750516202 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.1905T>G (p.Phe635Leu) rs1489623233 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.2006C>T (p.Pro669Leu) rs570326929 0.00001
NM_001165963.4(SCN1A):c.2018T>C (p.Ile673Thr) rs1315723631 0.00001
NM_001165963.4(SCN1A):c.201C>T (p.Asp67=) rs1331936581 0.00001
NM_001165963.4(SCN1A):c.203T>C (p.Ile68Thr) rs758871507 0.00001
NM_001165963.4(SCN1A):c.2135G>A (p.Arg712Gln) rs138799232 0.00001
NM_001165963.4(SCN1A):c.2229C>G (p.Asn743Lys) rs745738437 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.2474A>C (p.Tyr825Ser) rs780963881 0.00001
NM_001165963.4(SCN1A):c.2486A>T (p.Gln829Leu) rs1299251889 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.2576G>A (p.Arg859His) rs398123588 0.00001
NM_001165963.4(SCN1A):c.2584C>A (p.Arg862=) rs397514459 0.00001
NM_001165963.4(SCN1A):c.264A>C (p.Lys88Asn) rs1025532519 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.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.3053G>A (p.Arg1018Lys) rs745930061 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.413T>G (p.Ile138Ser) rs1553552390 0.00001
NM_001165963.4(SCN1A):c.418A>G (p.Thr140Ala) rs796052956 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.606C>T (p.Tyr202=) rs374555589 0.00001
NM_001165963.4(SCN1A):c.607G>A (p.Val203Ile) rs569880910 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.821G>A (p.Arg274Lys) rs1285055471 0.00001
NM_001165963.4(SCN1A):c.82C>T (p.Arg28Cys) rs754032480 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.879A>C (p.Glu293Asp) rs1457806589 0.00001
NM_001165963.4(SCN1A):c.90A>G (p.Ala30=) rs750748658 0.00001
GRCh37/hg19 2q24.3(chr2:166821406-166911866)x3
GRCh37/hg19 2q24.3(chr2:166821406-166939893)x3
GRCh37/hg19 2q24.3(chr2:166844240-166879265)x3
GRCh37/hg19 2q24.3(chr2:166844240-166914593)x3
GRCh37/hg19 2q24.3(chr2:166844240-166939277)x3
GRCh37/hg19 2q24.3(chr2:166845794-166917408)x3
GRCh37/hg19 2q24.3(chr2:166845794-166940301)x3
GRCh37/hg19 2q24.3(chr2:166849203-166924472)x3
GRCh37/hg19 2q24.3(chr2:166849955-166866307)x1
GRCh37/hg19 2q24.3(chr2:166851429-166869198)x3
GRCh37/hg19 2q24.3(chr2:166851429-166869446)x3
GRCh37/hg19 2q24.3(chr2:166851429-166882828)x3
GRCh37/hg19 2q24.3(chr2:166851429-166939893)x3
GRCh37/hg19 2q24.3(chr2:166851429-166940301)x3
GRCh37/hg19 2q24.3(chr2:166854158-166866307)x1
GRCh37/hg19 2q24.3(chr2:166854158-166869198)x3
GRCh37/hg19 2q24.3(chr2:166854158-166879265)x1
GRCh37/hg19 2q24.3(chr2:166899878-166920402)x1
GRCh37/hg19 2q24.3(chr2:166905375-166909104)x4
GRCh37/hg19 2q24.3(chr2:166905572-166911685)x3
GRCh37/hg19 2q24.3(chr2:166915080-166915198)x1
GRCh37/hg19 2q24.3(chr2:166999968-167000966)x1
NM_001165963.4(SCN1A):c.1006T>G (p.Cys336Gly) rs398123578
NM_001165963.4(SCN1A):c.1024G>T (p.Ala342Ser) rs794726843
NM_001165963.4(SCN1A):c.1027G>A (p.Gly343Ser) rs1553548063
NM_001165963.4(SCN1A):c.1028+112C>A rs77450394
NM_001165963.4(SCN1A):c.1028+1del rs886041980
NM_001165963.4(SCN1A):c.1028+5G>C rs1553548057
NM_001165963.4(SCN1A):c.1029-1G>C rs398123579
NM_001165963.4(SCN1A):c.1034G>A (p.Cys345Tyr) rs1057518243
NM_001165963.4(SCN1A):c.1034G>T (p.Cys345Phe) rs1057518243
NM_001165963.4(SCN1A):c.1053dup (p.Val352fs) rs796053106
NM_001165963.4(SCN1A):c.1066A>G (p.Arg356Gly) rs121917920
NM_001165963.4(SCN1A):c.1069A>T (p.Asn357Tyr) rs1057524752
NM_001165963.4(SCN1A):c.1072C>A (p.Pro358Thr) rs121917923
NM_001165963.4(SCN1A):c.1076A>G (p.Asn359Ser) rs794726713
NM_001165963.4(SCN1A):c.1076A>T (p.Asn359Ile) rs794726713
NM_001165963.4(SCN1A):c.1087A>C (p.Thr363Pro) rs1131691465
NM_001165963.4(SCN1A):c.1090A>C (p.Ser364Arg) rs1057518094
NM_001165963.4(SCN1A):c.1091G>T (p.Ser364Ile) rs752775574
NM_001165963.4(SCN1A):c.1092C>A (p.Ser364Arg) rs766332635
NM_001165963.4(SCN1A):c.1096G>C (p.Asp366His) rs750209664
NM_001165963.4(SCN1A):c.1098T>C (p.Asp366=) rs121917958
NM_001165963.4(SCN1A):c.1112C>T (p.Ala371Val) rs796052971
NM_001165963.4(SCN1A):c.1119del (p.Leu373fs) rs886041939
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>T (p.Arg377Leu)
NM_001165963.4(SCN1A):c.1133T>A (p.Leu378Gln) rs1698003832
NM_001165963.4(SCN1A):c.1139del (p.Thr380fs) rs796053047
NM_001165963.4(SCN1A):c.1141C>A (p.Gln381Lys) rs1553547403
NM_001165963.4(SCN1A):c.1141C>G (p.Gln381Glu) rs1553547403
NM_001165963.4(SCN1A):c.1150T>A (p.Trp384Arg) rs1057523858
NM_001165963.4(SCN1A):c.1151G>A (p.Trp384Ter) rs1553547380
NM_001165963.4(SCN1A):c.1162T>C (p.Tyr388His) rs121918781
NM_001165963.4(SCN1A):c.1162del (p.Tyr388fs) rs398123580
NM_001165963.4(SCN1A):c.1170+1G>A rs794726765
NM_001165963.4(SCN1A):c.1170+1G>T rs794726765
NM_001165963.4(SCN1A):c.1170+4A>G rs1697995660
NM_001165963.4(SCN1A):c.1170+5G>C rs1057524737
NM_001165963.4(SCN1A):c.1171-132del rs202157655
NM_001165963.4(SCN1A):c.1171-2A>G rs2105862987
NM_001165963.4(SCN1A):c.1171-6T>C
NM_001165963.4(SCN1A):c.1177C>T (p.Arg393Cys) rs121917929
NM_001165963.4(SCN1A):c.1177del (p.Arg393fs) rs1553546981
NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His) rs121917927
NM_001165963.4(SCN1A):c.1181C>T (p.Ala394Val) rs2105862847
NM_001165963.4(SCN1A):c.1182T>C (p.Ala394=)
NM_001165963.4(SCN1A):c.1184C>G (p.Ala395Gly)
NM_001165963.4(SCN1A):c.1191A>G (p.Lys397=)
NM_001165963.4(SCN1A):c.1192del (p.Thr398fs) rs796053055
NM_001165963.4(SCN1A):c.1195T>G (p.Tyr399Asp) rs796052974
NM_001165963.4(SCN1A):c.1201A>G (p.Ile401Val) rs1697908394
NM_001165963.4(SCN1A):c.1204T>C (p.Phe402Leu) rs796053094
NM_001165963.4(SCN1A):c.1216G>T (p.Val406Phe) rs121918768
NM_001165963.4(SCN1A):c.121A>G (p.Lys41Glu) rs764444350
NM_001165963.4(SCN1A):c.1230del (p.Ser411fs) rs1064796087
NM_001165963.4(SCN1A):c.1232C>A (p.Ser411Ter) rs2105862310
NM_001165963.4(SCN1A):c.1247_1248insGTAGA (p.Asn416delinsLysTer) rs796053056
NM_001165963.4(SCN1A):c.1253T>C (p.Ile418Thr) rs1697902111
NM_001165963.4(SCN1A):c.1259C>A (p.Ala420Asp) rs794726826
NM_001165963.4(SCN1A):c.1261G>A (p.Val421Met) rs781507889
NM_001165963.4(SCN1A):c.1262T>C (p.Val421Ala) rs796052975
NM_001165963.4(SCN1A):c.1264G>A (p.Val422Met) rs886042528
NM_001165963.4(SCN1A):c.1271T>C (p.Met424Thr) rs1574234690
NM_001165963.4(SCN1A):c.1277A>G (p.Tyr426Cys) rs796052973
NM_001165963.4(SCN1A):c.1280A>C (p.Glu427Ala) rs1697894901
NM_001165963.4(SCN1A):c.1294G>C (p.Ala432Pro) rs1697892980
NM_001165963.4(SCN1A):c.1312G>C (p.Glu438Gln)
NM_001165963.4(SCN1A):c.1313A>G (p.Glu438Gly) rs2105861457
NM_001165963.4(SCN1A):c.1323_1328del (p.Ala442_Glu443del) rs1697886499
NM_001165963.4(SCN1A):c.1325C>G (p.Ala442Gly) rs2105861318
NM_001165963.4(SCN1A):c.1339A>G (p.Met447Val) rs777596738
NM_001165963.4(SCN1A):c.1341G>A (p.Met447Ile) rs2105861173
NM_001165963.4(SCN1A):c.1344dup (p.Glu449Ter) rs1064793803
NM_001165963.4(SCN1A):c.1347del (p.Glu449fs) rs1064794147
NM_001165963.4(SCN1A):c.1348C>T (p.Gln450Ter) rs796052976
NM_001165963.4(SCN1A):c.134A>G (p.Asp45Gly) rs1559284606
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.1363C>T (p.Gln455Ter) rs1064796824
NM_001165963.4(SCN1A):c.1377+1G>C rs886043864
NM_001165963.4(SCN1A):c.1377+1del rs1057518129
NM_001165963.4(SCN1A):c.1377+92T>G rs538921
NM_001165963.4(SCN1A):c.1377G>A (p.Gln459=) rs1697877323
NM_001165963.4(SCN1A):c.1378-152del rs5836074
NM_001165963.4(SCN1A):c.1378-153_1378-152del rs5836074
NM_001165963.4(SCN1A):c.1378C>T (p.Gln460Ter) rs1559221910
NM_001165963.4(SCN1A):c.137_165del (p.Glu46fs) rs1684678839
NM_001165963.4(SCN1A):c.1396G>C (p.Ala466Pro) rs762652516
NM_001165963.4(SCN1A):c.140del (p.Asn47fs) rs796053075
NM_001165963.4(SCN1A):c.141del (p.Asn47fs) rs796053076
NM_001165963.4(SCN1A):c.1423_1424delinsCT (p.Ala475Leu) rs2105852411
NM_001165963.4(SCN1A):c.1430del (p.Gly477fs) rs796053057
NM_001165963.4(SCN1A):c.1462_1466del (p.Lys488fs) rs1553545742
NM_001165963.4(SCN1A):c.1477A>C (p.Ser493Arg) rs1574225131
NM_001165963.4(SCN1A):c.1479T>A (p.Ser493Arg) rs200545739
NM_001165963.4(SCN1A):c.1484A>G (p.Lys495Arg) rs398123582
NM_001165963.4(SCN1A):c.1487A>G (p.Glu496Gly)
NM_001165963.4(SCN1A):c.1511G>C (p.Arg504Thr)
NM_001165963.4(SCN1A):c.1511_1515del (p.Arg504fs) rs1553545660
NM_001165963.4(SCN1A):c.1518_1522del (p.Lys507fs) rs796053058
NM_001165963.4(SCN1A):c.1537dup (p.Glu513fs) rs796053059
NM_001165963.4(SCN1A):c.1539A>G (p.Glu513=) rs587781144
NM_001165963.4(SCN1A):c.1548T>C (p.Asp516=) rs1057524611
NM_001165963.4(SCN1A):c.1548T>G (p.Asp516Glu) rs1057524611
NM_001165963.4(SCN1A):c.1571A>T (p.Glu524Val) rs1406176906
NM_001165963.4(SCN1A):c.1586T>C (p.Ile529Thr) rs1166000241
NM_001165963.4(SCN1A):c.1588A>G (p.Arg530Gly)
NM_001165963.4(SCN1A):c.1598del (p.Gly533fs) rs1697640966
NM_001165963.4(SCN1A):c.1606T>G (p.Phe536Val) rs1254340060
NM_001165963.4(SCN1A):c.1622A>G (p.Asn541Ser) rs1697635871
NM_001165963.4(SCN1A):c.1624C>T (p.Arg542Ter)
NM_001165963.4(SCN1A):c.1633T>C (p.Tyr545His) rs1064794913
NM_001165963.4(SCN1A):c.1633T>G (p.Tyr545Asp) rs1064794913
NM_001165963.4(SCN1A):c.1660C>T (p.Gln554Ter) rs1064795620
NM_001165963.4(SCN1A):c.1662+1G>A rs794726749
NM_001165963.4(SCN1A):c.1662+2T>C rs1131691545
NM_001165963.4(SCN1A):c.1662+7C>G rs398123583
NM_001165963.4(SCN1A):c.1662G>A (p.Gln554=) rs796052977
NM_001165963.4(SCN1A):c.1662G>C (p.Gln554His) rs796052977
NM_001165963.4(SCN1A):c.1663-2A>C rs1085307520
NM_001165963.4(SCN1A):c.1702C>T (p.Arg568Ter) rs886039430
NM_001165963.4(SCN1A):c.1707T>G (p.Asn569Lys) rs778432457
NM_001165963.4(SCN1A):c.1709G>A (p.Ser570Asn) rs1057518703
NM_001165963.4(SCN1A):c.1712G>A (p.Arg571Lys) rs1697493699
NM_001165963.4(SCN1A):c.1714A>G (p.Thr572Ala)
NM_001165963.4(SCN1A):c.1738C>T (p.Arg580Ter) rs794726736
NM_001165963.4(SCN1A):c.1739_1742dup (p.Lys582fs) rs796053060
NM_001165963.4(SCN1A):c.1759G>A (p.Glu587Lys) rs1057524494
NM_001165963.4(SCN1A):c.1766A>T (p.Asp589Val) rs398123584
NM_001165963.4(SCN1A):c.1797G>T (p.Glu599Asp) rs145035963
NM_001165963.4(SCN1A):c.1813_1822del (p.Arg605fs) rs1697464108
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.1819del (p.Ser607fs) rs796053062
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.1849A>G (p.Arg617Gly) rs1553544701
NM_001165963.4(SCN1A):c.1850_1851del (p.Arg617fs)
NM_001165963.4(SCN1A):c.1852del (p.Arg618fs) rs796053064
NM_001165963.4(SCN1A):c.1853_1854del (p.Arg618fs) rs886041644
NM_001165963.4(SCN1A):c.185_189dup (p.Ile64fs) rs1064795078
NM_001165963.4(SCN1A):c.1867A>C (p.Ser623Arg)
NM_001165963.4(SCN1A):c.1873A>G (p.Thr625Ala) rs2105842681
NM_001165963.4(SCN1A):c.1948G>A (p.Val650Met) rs398123586
NM_001165963.4(SCN1A):c.1997A>G (p.Gln666Arg)
NM_001165963.4(SCN1A):c.200A>T (p.Asp67Val) rs2105982601
NM_001165963.4(SCN1A):c.2011del (p.Glu670_Val671insTer)
NM_001165963.4(SCN1A):c.2035G>A (p.Asp679Asn) rs796052979
NM_001165963.4(SCN1A):c.203T>G (p.Ile68Ser) rs758871507
NM_001165963.4(SCN1A):c.2043+1G>A rs751533302
NM_001165963.4(SCN1A):c.2043+6_2043+9del rs794727024
NM_001165963.4(SCN1A):c.2044-5del rs549232924
NM_001165963.4(SCN1A):c.2044-5dup rs549232924
NM_001165963.4(SCN1A):c.2051C>T (p.Thr684Ile) rs1574209746
NM_001165963.4(SCN1A):c.2057A>G (p.Glu686Gly) rs374767754
NM_001165963.4(SCN1A):c.2066T>G (p.Met689Arg)
NM_001165963.4(SCN1A):c.2078G>A (p.Arg693Lys)
NM_001165963.4(SCN1A):c.2095G>A (p.Val699Ile) rs1260934774
NM_001165963.4(SCN1A):c.2111T>C (p.Leu704Pro) rs1131691747
NM_001165963.4(SCN1A):c.2111dup (p.Glu705fs) rs1064795227
NM_001165963.4(SCN1A):c.2117A>T (p.Asp706Val) rs1574209133
NM_001165963.4(SCN1A):c.2122T>C (p.Ser708Pro) rs1271652586
NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter) rs794726730
NM_001165963.4(SCN1A):c.2145T>G (p.Ser715Arg)
NM_001165963.4(SCN1A):c.2150C>A (p.Ala717Asp) rs201021176
NM_001165963.4(SCN1A):c.2156T>A (p.Ile719Asn) rs1553543839
NM_001165963.4(SCN1A):c.2173G>T (p.Glu725Ter) rs1553543828
NM_001165963.4(SCN1A):c.2175A>C (p.Glu725Asp)
NM_001165963.4(SCN1A):c.2177-11dup rs11394960
NM_001165963.4(SCN1A):c.2177-1G>C rs763400390
NM_001165963.4(SCN1A):c.2177-1G>T rs763400390
NM_001165963.4(SCN1A):c.2177-6A>G rs1559210650
NM_001165963.4(SCN1A):c.2177-7A>T rs768129301
NM_001165963.4(SCN1A):c.2177-8dup rs747086735
NM_001165963.4(SCN1A):c.2178A>T (p.Glu726Asp) rs1697170377
NM_001165963.4(SCN1A):c.2208_2209del (p.Cys737fs) rs1697164036
NM_001165963.4(SCN1A):c.2213G>A (p.Trp738Ter) rs794726742
NM_001165963.4(SCN1A):c.2214G>A (p.Trp738Ter) rs786205214
NM_001165963.4(SCN1A):c.2219A>T (p.Lys740Ile)
NM_001165963.4(SCN1A):c.2244G>A (p.Trp748Ter) rs1553543340
NM_001165963.4(SCN1A):c.2255C>T (p.Pro752Leu) rs1553543331
NM_001165963.4(SCN1A):c.2257T>C (p.Tyr753His)
NM_001165963.4(SCN1A):c.2266A>G (p.Lys756Glu) rs1426666349
NM_001165963.4(SCN1A):c.2293G>A (p.Val765Met)
NM_001165963.4(SCN1A):c.2297T>G (p.Met766Arg) rs2105828429
NM_001165963.4(SCN1A):c.2303C>T (p.Pro768Leu) rs794726766
NM_001165963.4(SCN1A):c.2314del (p.Leu772fs) rs1064794508
NM_001165963.4(SCN1A):c.2330G>A (p.Cys777Tyr) rs2105828112
NM_001165963.4(SCN1A):c.2331del (p.Ile776_Cys777insTer) rs886041969
NM_001165963.4(SCN1A):c.2334_2335insTTCCCCTTGTATT (p.Val779fs) rs1064794503
NM_001165963.4(SCN1A):c.2336T>C (p.Val779Ala) rs1261711145
NM_001165963.4(SCN1A):c.2339_2340insTAT (p.Leu780delinsPheIle) rs796053066
NM_001165963.4(SCN1A):c.2343T>C (p.Asn781=) rs1574202373
NM_001165963.4(SCN1A):c.2345C>T (p.Thr782Ile) rs2105827881
NM_001165963.4(SCN1A):c.2354T>C (p.Met785Thr) rs796053095
NM_001165963.4(SCN1A):c.235G>A (p.Asp79Asn) rs121917982
NM_001165963.4(SCN1A):c.2360T>C (p.Met787Thr) rs773695263
NM_001165963.4(SCN1A):c.2362G>A (p.Glu788Lys) rs1057517959
NM_001165963.4(SCN1A):c.2369del (p.Tyr790fs)
NM_001165963.4(SCN1A):c.2378C>A (p.Thr793Lys) rs762038032
NM_001165963.4(SCN1A):c.237C>T (p.Asp79=) rs1276982403
NM_001165963.4(SCN1A):c.2380G>A (p.Asp794Asn) rs1360811002
NM_001165963.4(SCN1A):c.2390A>G (p.Asn797Ser)
NM_001165963.4(SCN1A):c.2395G>A (p.Val799Met)
NM_001165963.4(SCN1A):c.23C>T (p.Pro8Leu)
NM_001165963.4(SCN1A):c.2402C>T (p.Thr801Ile) rs2105827373
NM_001165963.4(SCN1A):c.2415+1G>C rs886041292
NM_001165963.4(SCN1A):c.2415+4A>G rs1553543148
NM_001165963.4(SCN1A):c.2415+8T>C rs1064797265
NM_001165963.4(SCN1A):c.2416-1G>T rs1553542421
NM_001165963.4(SCN1A):c.2420T>A (p.Phe807Tyr)
NM_001165963.4(SCN1A):c.2420dup (p.Thr808fs) rs786200989
NM_001165963.4(SCN1A):c.243C>G (p.Asp81Glu) rs796053016
NM_001165963.4(SCN1A):c.2445G>A (p.Met815Ile)
NM_001165963.4(SCN1A):c.2459T>C (p.Ile820Thr) rs886055045
NM_001165963.4(SCN1A):c.2462C>T (p.Ala821Val) rs2105817446
NM_001165963.4(SCN1A):c.2486A>G (p.Gln829Arg)
NM_001165963.4(SCN1A):c.2496G>T (p.Trp832Cys) rs1553542309
NM_001165963.4(SCN1A):c.2498dup (p.Asn833fs) rs886041937
NM_001165963.4(SCN1A):c.249C>T (p.Tyr83=)
NM_001165963.4(SCN1A):c.2504T>C (p.Phe835Ser) rs796052981
NM_001165963.4(SCN1A):c.2510G>A (p.Gly837Asp)
NM_001165963.4(SCN1A):c.2510del (p.Gly837fs) rs2105817078
NM_001165963.4(SCN1A):c.251A>G (p.Tyr84Cys) rs121917964
NM_001165963.4(SCN1A):c.252T>A (p.Tyr84Ter) rs2105982029
NM_001165963.4(SCN1A):c.2554G>A (p.Val852Met) rs1057524206
NM_001165963.4(SCN1A):c.2569G>A (p.Val857Ile) rs796052982
NM_001165963.4(SCN1A):c.2569del (p.Val857fs) rs796053065
NM_001165963.4(SCN1A):c.2573T>C (p.Leu858Pro) rs1696865258
NM_001165963.4(SCN1A):c.2575C>T (p.Arg859Cys) rs121918784
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+16_2589+19del rs3032638
NM_001165963.4(SCN1A):c.2589+17_2589+19del rs3032638
NM_001165963.4(SCN1A):c.2589+18_2589+19del rs3032638
NM_001165963.4(SCN1A):c.2589+19del rs3032638
NM_001165963.4(SCN1A):c.2589+1G>T rs1057517849
NM_001165963.4(SCN1A):c.2589+221_2589+224del rs6147014
NM_001165963.4(SCN1A):c.2589+3A>T rs794726775
NM_001165963.4(SCN1A):c.2590-2A>G rs727504140
NM_001165963.4(SCN1A):c.2590C>A (p.Leu864Met) rs140035595
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.25C>A (p.Pro9Thr)
NM_001165963.4(SCN1A):c.2606T>C (p.Leu869Ser) rs1057518110
NM_001165963.4(SCN1A):c.2615C>A (p.Ser872Tyr) rs794726786
NM_001165963.4(SCN1A):c.2624C>T (p.Thr875Met) rs121918623
NM_001165963.4(SCN1A):c.264+4A>T rs1574371074
NM_001165963.4(SCN1A):c.264+4_264+7del rs1574370981
NM_001165963.4(SCN1A):c.2644A>T (p.Ile882Phe) rs1064797019
NM_001165963.4(SCN1A):c.2648T>C (p.Ile883Thr) rs2105808409
NM_001165963.4(SCN1A):c.265-1G>A rs796052953
NM_001165963.4(SCN1A):c.265-2137C>T
NM_001165963.4(SCN1A):c.265-3C>T rs1553553614
NM_001165963.4(SCN1A):c.2665G>A (p.Ala889Thr) rs1266877537
NM_001165963.4(SCN1A):c.2667T>C (p.Ala889=) rs1206449277
NM_001165963.4(SCN1A):c.266del (p.Thr89fs) rs1064797266
NM_001165963.4(SCN1A):c.2681C>G (p.Thr894Ser) rs796052983
NM_001165963.4(SCN1A):c.2686_2694del (p.Val896_Ala898del) rs797044981
NM_001165963.4(SCN1A):c.2691G>C (p.Leu897Phe) rs1574183148
NM_001165963.4(SCN1A):c.269T>C (p.Phe90Ser) rs121918733
NM_001165963.4(SCN1A):c.2713G>A (p.Ala905Thr)
NM_001165963.4(SCN1A):c.2722G>A (p.Gly908Ser) rs796052984
NM_001165963.4(SCN1A):c.2722G>C (p.Gly908Arg) rs796052984
NM_001165963.4(SCN1A):c.2729A>G (p.Gln910Arg) rs1064795735
NM_001165963.4(SCN1A):c.2744G>A (p.Ser915Asn)
NM_001165963.4(SCN1A):c.2767A>G (p.Ile923Val) rs2105807305
NM_001165963.4(SCN1A):c.2782C>T (p.Gln928Ter) rs796052985
NM_001165963.4(SCN1A):c.278_279dup (p.Asn94Ter) rs1064796213
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.2796G>C (p.Trp932Cys) rs1553541303
NM_001165963.4(SCN1A):c.2797C>T (p.His933Tyr) rs886041716
NM_001165963.4(SCN1A):c.2799C>A (p.His933Gln) rs1064795736
NM_001165963.4(SCN1A):c.2800A>G (p.Met934Val) rs1559199628
NM_001165963.4(SCN1A):c.2806G>T (p.Asp936Tyr) rs796052988
NM_001165963.4(SCN1A):c.2815C>T (p.His939Tyr) rs121918736
NM_001165963.4(SCN1A):c.2816A>C (p.His939Pro) rs398123589
NM_001165963.4(SCN1A):c.2816A>G (p.His939Arg) rs398123589
NM_001165963.4(SCN1A):c.2817C>A (p.His939Gln) rs121918795
NM_001165963.4(SCN1A):c.2819C>T (p.Ser940Phe) rs1057521080
NM_001165963.4(SCN1A):c.2824C>T (p.Leu942=)
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.2843T>C (p.Leu948Pro) rs2105806501
NM_001165963.4(SCN1A):c.2846G>A (p.Cys949Tyr) rs1696624989
NM_001165963.4(SCN1A):c.2846G>C (p.Cys949Ser) rs1696624989
NM_001165963.4(SCN1A):c.2849G>A (p.Gly950Glu) rs121917972
NM_001165963.4(SCN1A):c.2851del (p.Glu951fs) rs886042004
NM_001165963.4(SCN1A):c.2852A>G (p.Glu951Gly) rs1574181209
NM_001165963.4(SCN1A):c.2876G>A (p.Cys959Tyr) rs794726716
NM_001165963.4(SCN1A):c.2877T>A (p.Cys959Ter) rs775214722
NM_001165963.4(SCN1A):c.2885T>C (p.Val962Ala) rs138858653
NM_001165963.4(SCN1A):c.2897_2910del (p.Ala966fs) rs1553541066
NM_001165963.4(SCN1A):c.2923G>C (p.Val975Leu) rs727504139
NM_001165963.4(SCN1A):c.2927T>C (p.Met976Thr) rs1057518325
NM_001165963.4(SCN1A):c.292del (p.Ala98fs) rs796053050
NM_001165963.4(SCN1A):c.2935G>A (p.Gly979Arg) rs121918754
NM_001165963.4(SCN1A):c.2939A>G (p.Asn980Ser) rs796052989
NM_001165963.4(SCN1A):c.293C>T (p.Ala98Val) rs2105918454
NM_001165963.4(SCN1A):c.2941C>A (p.Leu981Ile) rs1057518112
NM_001165963.4(SCN1A):c.2946+10C>T rs1574179707
NM_001165963.4(SCN1A):c.2946+112dup rs67819222
NM_001165963.4(SCN1A):c.2946+120del rs67819222
NM_001165963.4(SCN1A):c.2946+162_2946+165del rs66463257
NM_001165963.4(SCN1A):c.2946+1G>T rs794726772
NM_001165963.4(SCN1A):c.2946+1_2946+2dup rs1064793341
NM_001165963.4(SCN1A):c.2946+2T>G rs797044985
NM_001165963.4(SCN1A):c.2946+4T>C rs1390205269
NM_001165963.4(SCN1A):c.2946+5G>A rs1057520486
NM_001165963.4(SCN1A):c.2947-1G>A rs1553540508
NM_001165963.4(SCN1A):c.2947del rs1696406839
NM_001165963.4(SCN1A):c.2955T>G (p.Asn985Lys) rs2105797652
NM_001165963.4(SCN1A):c.2966C>T (p.Ala989Val) rs796052990
NM_001165963.4(SCN1A):c.2970G>T (p.Leu990Phe)
NM_001165963.4(SCN1A):c.2975dup (p.Ser993fs) rs886041852
NM_001165963.4(SCN1A):c.2979_2992del (p.Ser993fs) rs1553540464
NM_001165963.4(SCN1A):c.2981C>T (p.Ser994Leu) rs1574172286
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.2993A>G (p.Asp998Gly) rs1484321812
NM_001165963.4(SCN1A):c.2994C>A (p.Asp998Glu) rs796052991
NM_001165963.4(SCN1A):c.2994del (p.Asp998fs) rs796053067
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.301C>T (p.Arg101Trp) rs121917965
NM_001165963.4(SCN1A):c.302G>A (p.Arg101Gln) rs121917918
NM_001165963.4(SCN1A):c.302G>T (p.Arg101Leu) rs121917918
NM_001165963.4(SCN1A):c.3046G>A (p.Val1016Met) rs370857858
NM_001165963.4(SCN1A):c.305dup (p.Ser103fs) rs796053051
NM_001165963.4(SCN1A):c.3064_3065delinsAA (p.Gly1022Lys) rs2105796551
NM_001165963.4(SCN1A):c.3067_3071del (p.Val1023fs) rs2105796501
NM_001165963.4(SCN1A):c.3068del (p.Val1023fs)
NM_001165963.4(SCN1A):c.3070_3074del (p.Ala1024fs) rs2105796481
NM_001165963.4(SCN1A):c.310_312del (p.Ala104del) rs1699362921
NM_001165963.4(SCN1A):c.314C>T (p.Thr105Ile) rs796053089
NM_001165963.4(SCN1A):c.320C>T (p.Ala107Val) rs1559254819
NM_001165963.4(SCN1A):c.323dup (p.Tyr109fs) rs886041926
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.344A>G (p.Asn115Ser) rs1699357096
NM_001165963.4(SCN1A):c.350T>C (p.Leu117Pro) rs1064796384
NM_001165963.4(SCN1A):c.354G>T (p.Arg118Ser) rs121917959
NM_001165963.4(SCN1A):c.364A>G (p.Ile122Val) rs1405137253
NM_001165963.4(SCN1A):c.366T>G (p.Ile122Met) rs752918105
NM_001165963.4(SCN1A):c.368del (p.Lys123fs) rs796053052
NM_001165963.4(SCN1A):c.376G>A (p.Val126Ile) rs1699350822
NM_001165963.4(SCN1A):c.382T>G (p.Ser128Ala)
NM_001165963.4(SCN1A):c.382_383+4del
NM_001165963.4(SCN1A):c.383+5C>A rs1060502185
NM_001165963.4(SCN1A):c.384dup (p.Leu129fs) rs886041501
NM_001165963.4(SCN1A):c.386T>G (p.Leu129Ter) rs2105909995
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.427_430del (p.Val143fs) rs1699147493
NM_001165963.4(SCN1A):c.434T>A (p.Met145Lys) rs121918631
NM_001165963.4(SCN1A):c.434T>C (p.Met145Thr) rs121918631
NM_001165963.4(SCN1A):c.442del (p.Ser148fs) rs1699143102
NM_001165963.4(SCN1A):c.458G>T (p.Trp153Leu) rs2105909582
NM_001165963.4(SCN1A):c.472G>C (p.Glu158Gln) rs796053090
NM_001165963.4(SCN1A):c.473+5G>C rs1064794634
NM_001165963.4(SCN1A):c.475T>C (p.Tyr159His) rs2105902773
NM_001165963.4(SCN1A):c.476del (p.Tyr159fs) rs796053053
NM_001165963.4(SCN1A):c.485C>T (p.Thr162Ile) rs1698960532
NM_001165963.4(SCN1A):c.487G>T (p.Gly163Ter) rs1553551498
NM_001165963.4(SCN1A):c.491T>A (p.Ile164Lys) rs1574282312
NM_001165963.4(SCN1A):c.495T>C (p.Tyr165=) rs547496777
NM_001165963.4(SCN1A):c.502G>C (p.Glu168Gln)
NM_001165963.4(SCN1A):c.505T>C (p.Ser169Pro) rs796052957
NM_001165963.4(SCN1A):c.509T>C (p.Leu170Pro) rs1064793315
NM_001165963.4(SCN1A):c.512del (p.Ile171fs) rs2105902403
NM_001165963.4(SCN1A):c.514A>T (p.Lys172Ter) rs1553551463
NM_001165963.4(SCN1A):c.519T>G (p.Ile173Met) rs1283681963
NM_001165963.4(SCN1A):c.539T>G (p.Leu180Ter) rs1574281711
NM_001165963.4(SCN1A):c.53C>T (p.Thr18Ile)
NM_001165963.4(SCN1A):c.53_55del (p.Thr18del)
NM_001165963.4(SCN1A):c.544G>T (p.Asp182Tyr)
NM_001165963.4(SCN1A):c.549dup (p.Thr184fs) rs1553551425
NM_001165963.4(SCN1A):c.550A>T (p.Thr184Ser) rs368798811
NM_001165963.4(SCN1A):c.554T>C (p.Phe185Ser) rs1358421236
NM_001165963.4(SCN1A):c.559_602+6del rs1553551304
NM_001165963.4(SCN1A):c.55A>G (p.Arg19Gly) rs796053096
NM_001165963.4(SCN1A):c.563A>G (p.Asp188Gly)
NM_001165963.4(SCN1A):c.566C>T (p.Pro189Leu) rs2105901930
NM_001165963.4(SCN1A):c.580G>A (p.Asp194Asn) rs121917935
NM_001165963.4(SCN1A):c.594del (p.Thr199fs) rs1698940903
NM_001165963.4(SCN1A):c.596C>T (p.Thr199Ile) rs121917983
NM_001165963.4(SCN1A):c.600dup (p.Ala201fs) rs886041733
NM_001165963.4(SCN1A):c.602+1G>A
NM_001165963.4(SCN1A):c.602+1G>C rs794726827
NM_001165963.4(SCN1A):c.602+269CA[3] rs66512822
NM_001165963.4(SCN1A):c.602+2dup rs796053054
NM_001165963.4(SCN1A):c.602+6_602+7dup rs577627288
NM_001165963.4(SCN1A):c.603-1G>A rs796052959
NM_001165963.4(SCN1A):c.607_611del (p.Val203fs) rs1553550625
NM_001165963.4(SCN1A):c.621G>A (p.Val207=)
NM_001165963.4(SCN1A):c.626_694+31del
NM_001165963.4(SCN1A):c.632A>G (p.Asn211Ser) rs1553550618
NM_001165963.4(SCN1A):c.633T>C (p.Asn211=)
NM_001165963.4(SCN1A):c.637_650delinsCACA (p.Ser213fs) rs1064793678
NM_001165963.4(SCN1A):c.638C>G (p.Ser213Trp) rs754661378
NM_001165963.4(SCN1A):c.644T>A (p.Leu215Ter) rs886041604
NM_001165963.4(SCN1A):c.655A>G (p.Arg219Gly) rs1553550574
NM_001165963.4(SCN1A):c.656G>C (p.Arg219Thr) rs796052960
NM_001165963.4(SCN1A):c.657A>C (p.Arg219Ser) rs727504143
NM_001165963.4(SCN1A):c.657A>T (p.Arg219Ser) rs727504143
NM_001165963.4(SCN1A):c.662T>C (p.Leu221Pro) rs796052961
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter) rs121918624
NM_001165963.4(SCN1A):c.667G>C (p.Ala223Pro) rs1553550552
NM_001165963.4(SCN1A):c.671T>C (p.Leu224Ser) rs796053091
NM_001165963.4(SCN1A):c.672G>C (p.Leu224Phe)
NM_001165963.4(SCN1A):c.675G>C (p.Lys225Asn) rs794726719
NM_001165963.4(SCN1A):c.677C>G (p.Thr226Arg) rs121917984
NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met) rs121917984
NM_001165963.4(SCN1A):c.680T>C (p.Ile227Thr) rs121917937
NM_001165963.4(SCN1A):c.680T>G (p.Ile227Ser) rs121917937
NM_001165963.4(SCN1A):c.68C>A (p.Ala23Glu) rs139397227
NM_001165963.4(SCN1A):c.694+224dup rs1553550372
NM_001165963.4(SCN1A):c.694+227_694+228dup rs34747425
NM_001165963.4(SCN1A):c.694+227dup rs34747425
NM_001165963.4(SCN1A):c.694+5G>C rs727504142
NM_001165963.4(SCN1A):c.695-1G>A
NM_001165963.4(SCN1A):c.695-2_697delinsCCACAA rs1553549997
NM_001165963.4(SCN1A):c.6G>C (p.Glu2Asp) rs771003075
NM_001165963.4(SCN1A):c.6G>T (p.Glu2Asp) rs771003075
NM_001165963.4(SCN1A):c.700A>G (p.Lys234Glu) rs1553549993
NM_001165963.4(SCN1A):c.705del (p.Ile236fs) rs886041442
NM_001165963.4(SCN1A):c.707T>C (p.Ile236Thr) rs886039464
NM_001165963.4(SCN1A):c.717C>A (p.Ala239=) rs759923734
NM_001165963.4(SCN1A):c.731T>C (p.Val244Ala) rs1553549902
NM_001165963.4(SCN1A):c.739C>G (p.Leu247Val) rs796053092
NM_001165963.4(SCN1A):c.73A>T (p.Ile25Phe) rs2105983873
NM_001165963.4(SCN1A):c.746A>T (p.Asp249Val) rs762927460
NM_001165963.4(SCN1A):c.748G>A (p.Val250Ile) rs796052962
NM_001165963.4(SCN1A):c.749T>A (p.Val250Glu) rs1553549845
NM_001165963.4(SCN1A):c.755T>A (p.Ile252Asn) rs121918780
NM_001165963.4(SCN1A):c.756C>T (p.Ile252=) rs587780447
NM_001165963.4(SCN1A):c.765_766del (p.Phe256fs) rs886041961
NM_001165963.4(SCN1A):c.769T>C (p.Cys257Arg) rs794726771
NM_001165963.4(SCN1A):c.779dup (p.Phe261fs) rs1574265485
NM_001165963.4(SCN1A):c.782_788del (p.Val260_Phe261insTer) rs1698602478
NM_001165963.4(SCN1A):c.797T>C (p.Leu266Pro) rs1559238432
NM_001165963.4(SCN1A):c.800A>C (p.Gln267Pro) rs200034964
NM_001165963.4(SCN1A):c.802C>T (p.Leu268=) rs2105889931
NM_001165963.4(SCN1A):c.808A>G (p.Met270Val)
NM_001165963.4(SCN1A):c.810G>A (p.Met270Ile) rs2105889888
NM_001165963.4(SCN1A):c.811_815dup (p.Asn272fs) rs1574265144
NM_001165963.4(SCN1A):c.818T>C (p.Leu273Pro) rs1085307892
NM_001165963.4(SCN1A):c.827A>T (p.Lys276Ile) rs796052963
NM_001165963.4(SCN1A):c.830del (p.Cys277fs) rs794727786
NM_001165963.4(SCN1A):c.840G>A (p.Trp280Ter) rs1553549667
NM_001165963.4(SCN1A):c.842C>T (p.Pro281Leu) rs796052964
NM_001165963.4(SCN1A):c.852T>C (p.Asn284=) rs748747434
NM_001165963.4(SCN1A):c.85A>G (p.Ile29Val)
NM_001165963.4(SCN1A):c.861G>A (p.Leu287=) rs568461410
NM_001165963.4(SCN1A):c.862G>C (p.Glu288Gln) rs796052966
NM_001165963.4(SCN1A):c.86T>C (p.Ile29Thr) rs773935383
NM_001165963.4(SCN1A):c.873T>C (p.Ser291=) rs1007259779
NM_001165963.4(SCN1A):c.893_894del (p.Val298fs) rs1064794252
NM_001165963.4(SCN1A):c.907A>G (p.Thr303Ala) rs774358847
NM_001165963.4(SCN1A):c.916A>C (p.Asn306His) rs2105888896
NM_001165963.4(SCN1A):c.918T>G (p.Asn306Lys)
NM_001165963.4(SCN1A):c.919G>T (p.Glu307Ter) rs1275890918
NM_001165963.4(SCN1A):c.935T>G (p.Phe312Cys) rs886044441
NM_001165963.4(SCN1A):c.942del (p.Asp313_Trp314insTer) rs796053105
NM_001165963.4(SCN1A):c.949T>C (p.Tyr317His) rs1553549461
NM_001165963.4(SCN1A):c.959A>T (p.Asp320Val) rs796052967
NM_001165963.4(SCN1A):c.962C>G (p.Ser321Ter) rs2105888495
NM_001165963.4(SCN1A):c.964+104_964+110del rs200369264
NM_001165963.4(SCN1A):c.964+1G>C rs1574263047
NM_001165963.4(SCN1A):c.964+5G>A rs796052965
NM_001165963.4(SCN1A):c.964A>G (p.Arg322Gly)
NM_001165963.4(SCN1A):c.965-14_965-11del
NM_001165963.4(SCN1A):c.965-1G>A rs794726824
NM_001165963.4(SCN1A):c.965-480T>C
NM_001165963.4(SCN1A):c.971A>G (p.His324Arg) rs796053093
NM_001165963.4(SCN1A):c.971ATT[1] (p.Tyr325del) rs1553548194
NM_001165963.4(SCN1A):c.982G>A (p.Glu328Lys)
NM_001165963.4(SCN1A):c.984G>C (p.Glu328Asp) rs796052968
NM_001165963.4(SCN1A):c.985G>T (p.Gly329Cys) rs781746113
NM_001165963.4(SCN1A):c.986G>T (p.Gly329Val) rs779184118
NM_001165963.4(SCN1A):c.993A>C (p.Leu331Phe) rs1057524518
NM_001165963.4(SCN1A):c.995A>G (p.Asp332Gly) rs796052969
NM_001165963.4(SCN1A):c.995A>T (p.Asp332Val)
NM_006920.6(SCN1A):c.4795G>T (p.Val1599Leu) rs2105447473

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