ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A studied for not provided

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Total variants: 658
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.3551-192T>C rs568376 0.99676
NM_001165963.4(SCN1A):c.*721A>G rs4667859 0.99675
NM_001165963.4(SCN1A):c.*1739C>T rs1813502 0.70050
NM_001165963.4(SCN1A):c.3429+110T>A rs114707732 0.69761
NM_001165963.4(SCN1A):c.3550+212G>T rs577306 0.26364
NM_001165963.4(SCN1A):c.3429+212T>C rs11691603 0.26022
NM_001165963.4(SCN1A):c.4853-223dup rs34871628 0.24515
NM_001165963.4(SCN1A):c.3551-246C>G rs10207252 0.15493
NM_001165963.4(SCN1A):c.*1961C>T rs7577411 0.08473
NM_001165963.4(SCN1A):c.4853-142A>T rs6754638 0.08458
NM_001165963.4(SCN1A):c.4477-338T>A rs17791817 0.06433
NM_001165963.4(SCN1A):c.4853-271T>C rs16851338 0.06306
NM_001165963.4(SCN1A):c.3429+108T>A rs538930553 0.04901
NM_001165963.4(SCN1A):c.4284+179A>T rs72871938 0.04355
NM_001165963.4(SCN1A):c.*1693A>G rs7591522 0.03977
NM_001165963.4(SCN1A):c.3723T>C (p.Tyr1241=) rs36031496 0.03789
NM_001165963.4(SCN1A):c.*172dup rs113696479 0.03631
NM_001165963.4(SCN1A):c.4003-69T>C rs1350798 0.03624
NM_001165963.4(SCN1A):c.4582-254G>A rs919198 0.02168
NM_001165963.4(SCN1A):c.4338+74C>T rs4305294 0.02157
NM_001165963.4(SCN1A):c.4339-96dup rs142978131 0.01816
NM_001165963.4(SCN1A):c.3429+216C>G rs74440143 0.01668
NM_001165963.4(SCN1A):c.3429+109T>A rs200404199 0.01392
NM_001165963.4(SCN1A):c.3705+55C>G rs76220226 0.01372
NM_001165963.4(SCN1A):c.4284+271T>A rs149674261 0.01336
NM_001165963.4(SCN1A):c.*1653C>T rs79971813 0.01291
NM_001165963.4(SCN1A):c.3706-146C>G rs115294408 0.01136
NM_001165963.4(SCN1A):c.4853-222A>T rs56079318 0.01100
NM_001165963.4(SCN1A):c.4476+33G>A rs73969742 0.01061
NM_001165963.4(SCN1A):c.3705+33T>G rs76743139 0.00915
NM_001165963.4(SCN1A):c.3551-67G>A rs114396026 0.00881
NM_001165963.4(SCN1A):c.5864T>C (p.Ile1955Thr) rs35735053 0.00876
NM_001165963.4(SCN1A):c.5418G>A (p.Glu1806=) rs140237315 0.00855
NM_001165963.4(SCN1A):c.3705+166del rs139618094 0.00770
NM_001165963.4(SCN1A):c.4581+124C>G rs13398882 0.00690
NM_001165963.4(SCN1A):c.*1952T>C rs184794128 0.00627
NM_001165963.4(SCN1A):c.4476+202T>A rs149570962 0.00627
NM_001165963.4(SCN1A):c.4476+316C>T rs184022580 0.00625
NM_001165963.4(SCN1A):c.4477-37A>G rs182207375 0.00616
NM_001165963.4(SCN1A):c.*1750T>C rs181548655 0.00414
NM_001165963.4(SCN1A):c.*1864T>A rs150155252 0.00341
NM_001165963.4(SCN1A):c.4002+2422A>G rs185755900 0.00310
NM_001165963.4(SCN1A):c.*677G>A rs142037381 0.00181
NM_001165963.4(SCN1A):c.3705+12T>G rs147032678 0.00181
NM_001165963.4(SCN1A):c.4582-27G>A rs113927395 0.00160
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) rs121918799 0.00159
NM_001165963.4(SCN1A):c.4731T>C (p.Asn1577=) rs145296488 0.00114
NM_001165963.4(SCN1A):c.3101T>C (p.Ile1034Thr) rs121918818 0.00084
NM_001165963.4(SCN1A):c.5571G>A (p.Val1857=) rs142019382 0.00078
NM_001165963.4(SCN1A):c.5951C>A (p.Pro1984His) rs146733308 0.00074
NM_001165963.4(SCN1A):c.3948G>A (p.Arg1316=) rs149579028 0.00073
NM_001165963.4(SCN1A):c.5782C>G (p.Arg1928Gly) rs121917956 0.00073
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp) rs121917910 0.00070
NM_001165963.4(SCN1A):c.*774G>A rs570379164 0.00054
NM_001165963.4(SCN1A):c.4872G>A (p.Leu1624=) rs142910512 0.00048
NM_001165963.4(SCN1A):c.4945C>T (p.Leu1649=) rs148546224 0.00047
NM_001165963.4(SCN1A):c.5286A>G (p.Gly1762=) rs150570058 0.00040
NM_001165963.4(SCN1A):c.5568G>A (p.Met1856Ile) rs144691638 0.00038
NM_001165963.4(SCN1A):c.3749C>T (p.Thr1250Met) rs140731963 0.00025
NM_001165963.4(SCN1A):c.3899C>T (p.Thr1300Ile) rs146878122 0.00019
NM_001165963.4(SCN1A):c.4129A>G (p.Ile1377Val) rs762317674 0.00016
NM_001165963.4(SCN1A):c.5870A>G (p.Glu1957Gly) rs121918802 0.00016
NM_001165963.4(SCN1A):c.3717T>C (p.Asp1239=) rs376579606 0.00015
NM_001165963.4(SCN1A):c.3550+34T>G rs367591519 0.00014
NM_001165963.4(SCN1A):c.3591A>G (p.Glu1197=) rs371596040 0.00014
NM_001165963.4(SCN1A):c.5217C>T (p.Pro1739=) rs149315236 0.00014
NM_001165963.4(SCN1A):c.5639G>A (p.Gly1880Glu) rs201905405 0.00011
NM_001165963.4(SCN1A):c.4906C>A (p.Arg1636=) rs199727342 0.00010
NM_001165963.4(SCN1A):c.3714A>C (p.Glu1238Asp) rs121917973 0.00008
NM_001165963.4(SCN1A):c.4557G>A (p.Pro1519=) rs368785509 0.00008
NM_001165963.4(SCN1A):c.4887C>T (p.Phe1629=) rs587780445 0.00008
NM_001165963.4(SCN1A):c.3481G>A (p.Ala1161Thr) rs201079458 0.00006
NM_001165963.4(SCN1A):c.3693T>C (p.Ser1231=) rs121918746 0.00006
NM_001165963.4(SCN1A):c.3732G>A (p.Gln1244=) rs369688121 0.00006
NM_001165963.4(SCN1A):c.4570C>A (p.Pro1524Thr) rs143088184 0.00006
NM_001165963.4(SCN1A):c.4724G>A (p.Arg1575His) rs368834365 0.00006
NM_001165963.4(SCN1A):c.3166A>G (p.Asn1056Asp) rs746016312 0.00005
NM_001165963.4(SCN1A):c.4905C>T (p.Phe1635=) rs774858072 0.00005
NM_001165963.4(SCN1A):c.3585T>C (p.Asn1195=) rs138181528 0.00004
NM_001165963.4(SCN1A):c.3726T>C (p.Ile1242=) rs760181074 0.00004
NM_001165963.4(SCN1A):c.4345C>T (p.Leu1449Phe) rs768638174 0.00004
NM_001165963.4(SCN1A):c.4556C>T (p.Pro1519Leu) rs372425457 0.00004
NM_001165963.4(SCN1A):c.4612G>A (p.Val1538Ile) rs780360360 0.00004
NM_001165963.4(SCN1A):c.4791T>C (p.His1597=) rs141051370 0.00004
NM_001165963.4(SCN1A):c.3387G>A (p.Thr1129=) rs375953445 0.00003
NM_001165963.4(SCN1A):c.3752T>C (p.Met1251Thr) rs749638533 0.00003
NM_001165963.4(SCN1A):c.4162G>A (p.Glu1388Lys) rs775820803 0.00003
NM_001165963.4(SCN1A):c.4209T>C (p.Asn1403=) rs1176622466 0.00003
NM_001165963.4(SCN1A):c.4547C>T (p.Ser1516Leu) rs139300715 0.00003
NM_001165963.4(SCN1A):c.4582-3C>T rs747649993 0.00003
NM_001165963.4(SCN1A):c.4723C>T (p.Arg1575Cys) rs121918807 0.00003
NM_001165963.4(SCN1A):c.5510C>T (p.Pro1837Leu) rs149225252 0.00003
NM_001165963.4(SCN1A):c.5763T>C (p.Ile1921=) rs767698089 0.00003
NM_001165963.4(SCN1A):c.5822C>T (p.Thr1941Met) rs756845310 0.00003
NM_001165963.4(SCN1A):c.5988A>C (p.Lys1996Asn) rs371243629 0.00003
NM_001165963.4(SCN1A):c.3161T>G (p.Leu1054Arg) rs985473996 0.00002
NM_001165963.4(SCN1A):c.3220G>A (p.Asp1074Asn) rs751514645 0.00002
NM_001165963.4(SCN1A):c.3276T>G (p.Val1092=) rs895560193 0.00002
NM_001165963.4(SCN1A):c.3502G>A (p.Val1168Ile) rs146374754 0.00002
NM_001165963.4(SCN1A):c.3550+16C>T rs1000651886 0.00002
NM_001165963.4(SCN1A):c.3597C>T (p.Gly1199=) rs376901032 0.00002
NM_001165963.4(SCN1A):c.3638G>A (p.Arg1213Gln) rs566081370 0.00002
NM_001165963.4(SCN1A):c.3889G>A (p.Val1297Ile) rs1260685558 0.00002
NM_001165963.4(SCN1A):c.4095C>T (p.Gly1365=) rs372749240 0.00002
NM_001165963.4(SCN1A):c.4096G>A (p.Val1366Ile) rs121918805 0.00002
NM_001165963.4(SCN1A):c.4284+7G>A rs745918943 0.00002
NM_001165963.4(SCN1A):c.4783C>A (p.Leu1595Ile) rs756238700 0.00002
NM_001165963.4(SCN1A):c.4923T>C (p.Ala1641=) rs369650500 0.00002
NM_001165963.4(SCN1A):c.5801C>T (p.Thr1934Ile) rs1205848223 0.00002
NM_001165963.4(SCN1A):c.5809C>G (p.Gln1937Glu) rs1358776988 0.00002
NM_001165963.4(SCN1A):c.5851G>T (p.Ala1951Ser) rs376656165 0.00002
NM_001165963.4(SCN1A):c.3098T>C (p.Phe1033Ser) rs796052992 0.00001
NM_001165963.4(SCN1A):c.3118A>C (p.Arg1040=) rs370793418 0.00001
NM_001165963.4(SCN1A):c.3120G>T (p.Arg1040Ser) rs1373733895 0.00001
NM_001165963.4(SCN1A):c.3121A>G (p.Lys1041Glu) rs376649518 0.00001
NM_001165963.4(SCN1A):c.3176A>T (p.Asp1059Val) rs779306054 0.00001
NM_001165963.4(SCN1A):c.3224A>G (p.Tyr1075Cys) rs1226603266 0.00001
NM_001165963.4(SCN1A):c.3233A>C (p.Asp1078Ala) rs758221668 0.00001
NM_001165963.4(SCN1A):c.3325C>A (p.Pro1109Thr) rs753452775 0.00001
NM_001165963.4(SCN1A):c.3355G>A (p.Val1119Ile) rs774410570 0.00001
NM_001165963.4(SCN1A):c.3391G>A (p.Asp1131Asn) rs372555722 0.00001
NM_001165963.4(SCN1A):c.3407C>T (p.Ser1136Leu) rs746718015 0.00001
NM_001165963.4(SCN1A):c.3443G>A (p.Ser1148Asn) rs1213569051 0.00001
NM_001165963.4(SCN1A):c.3454T>A (p.Ser1152Thr) rs763254451 0.00001
NM_001165963.4(SCN1A):c.3500C>T (p.Pro1167Leu) rs1693179742 0.00001
NM_001165963.4(SCN1A):c.3506T>C (p.Val1169Ala) rs1380673643 0.00001
NM_001165963.4(SCN1A):c.3556G>T (p.Val1186Leu) rs780607306 0.00001
NM_001165963.4(SCN1A):c.3573T>C (p.Cys1191=) rs750943685 0.00001
NM_001165963.4(SCN1A):c.3576T>C (p.Cys1192=) rs150638891 0.00001
NM_001165963.4(SCN1A):c.3630G>A (p.Thr1210=) rs377326177 0.00001
NM_001165963.4(SCN1A):c.3719T>C (p.Ile1240Thr) rs776629634 0.00001
NM_001165963.4(SCN1A):c.3721T>C (p.Tyr1241His) rs922514173 0.00001
NM_001165963.4(SCN1A):c.3734G>A (p.Arg1245Gln) rs121917912 0.00001
NM_001165963.4(SCN1A):c.3776T>C (p.Phe1259Ser) rs398123591 0.00001
NM_001165963.4(SCN1A):c.4171A>C (p.Asn1391His) rs1295072436 0.00001
NM_001165963.4(SCN1A):c.4231G>A (p.Val1411Met) rs1691042935 0.00001
NM_001165963.4(SCN1A):c.4342G>C (p.Glu1448Gln) rs1193847815 0.00001
NM_001165963.4(SCN1A):c.4389T>C (p.Phe1463=) rs794727375 0.00001
NM_001165963.4(SCN1A):c.4495T>C (p.Phe1499Leu) rs121918632 0.00001
NM_001165963.4(SCN1A):c.4524T>C (p.Tyr1508=) rs778620898 0.00001
NM_001165963.4(SCN1A):c.4574G>A (p.Arg1525Gln) rs1559114408 0.00001
NM_001165963.4(SCN1A):c.4581A>G (p.Gly1527=) rs1470930262 0.00001
NM_001165963.4(SCN1A):c.4588T>C (p.Phe1530Leu) rs1689724218 0.00001
NM_001165963.4(SCN1A):c.4628T>C (p.Phe1543Ser) rs121917992 0.00001
NM_001165963.4(SCN1A):c.4793A>T (p.Tyr1598Phe) rs377325221 0.00001
NM_001165963.4(SCN1A):c.4848T>C (p.Ile1616=) rs1379533666 0.00001
NM_001165963.4(SCN1A):c.4853-3dup rs1553520532 0.00001
NM_001165963.4(SCN1A):c.4855A>G (p.Met1619Val) rs373967247 0.00001
NM_001165963.4(SCN1A):c.4941A>G (p.Leu1647=) rs770111331 0.00001
NM_001165963.4(SCN1A):c.4969C>T (p.Arg1657Cys) rs121918811 0.00001
NM_001165963.4(SCN1A):c.5202C>T (p.Leu1734=) rs140664455 0.00001
NM_001165963.4(SCN1A):c.5275C>T (p.Pro1759Ser) rs1064794630 0.00001
NM_001165963.4(SCN1A):c.5291T>A (p.Phe1764Tyr) rs796053037 0.00001
NM_001165963.4(SCN1A):c.5421G>A (p.Met1807Ile) rs1689220137 0.00001
NM_001165963.4(SCN1A):c.5430G>A (p.Glu1810=) rs765676433 0.00001
NM_001165963.4(SCN1A):c.5433T>C (p.Val1811=) rs762310676 0.00001
NM_001165963.4(SCN1A):c.5452G>A (p.Asp1818Asn) rs747251662 0.00001
NM_001165963.4(SCN1A):c.5502G>A (p.Ala1834=) rs754566611 0.00001
NM_001165963.4(SCN1A):c.5532A>G (p.Pro1844=) rs886043063 0.00001
NM_001165963.4(SCN1A):c.5613T>A (p.Phe1871Leu) rs1354992113 0.00001
NM_001165963.4(SCN1A):c.5620C>T (p.Arg1874Trp) rs796053043 0.00001
NM_001165963.4(SCN1A):c.5656C>A (p.Arg1886=) rs779614747 0.00001
NM_001165963.4(SCN1A):c.5735G>A (p.Arg1912Gln) rs373896263 0.00001
NM_001165963.4(SCN1A):c.5771G>A (p.Arg1924His) rs3749029 0.00001
NM_001165963.4(SCN1A):c.5852C>T (p.Ala1951Val) rs1057524816 0.00001
NM_001165963.4(SCN1A):c.5877G>T (p.Met1959Ile) rs763997333 0.00001
NM_001165963.4(SCN1A):c.5912A>G (p.Glu1971Gly) rs771936735 0.00001
NM_001165963.4(SCN1A):c.5963G>A (p.Arg1988Gln) rs769477807 0.00001
NM_001165963.4(SCN1A):c.5977A>G (p.Ile1993Val) rs751750112 0.00001
NM_001165963.4(SCN1A):c.*1872del rs878898132
NM_001165963.4(SCN1A):c.3089_3091delinsAA (p.Ile1030fs) rs2105796316
NM_001165963.4(SCN1A):c.3092A>G (p.Tyr1031Cys) rs2105796301
NM_001165963.4(SCN1A):c.3093T>A (p.Tyr1031Ter) rs1553540382
NM_001165963.4(SCN1A):c.3106C>T (p.Gln1036Ter) rs542420576
NM_001165963.4(SCN1A):c.3106_3107del (p.Gln1036fs) rs1696373154
NM_001165963.4(SCN1A):c.3110C>G (p.Ser1037Cys) rs1265022938
NM_001165963.4(SCN1A):c.3128A>T (p.Lys1043Met) rs1553540334
NM_001165963.4(SCN1A):c.3154GAT[1] (p.Asp1053del)
NM_001165963.4(SCN1A):c.3166A>C (p.Asn1056His) rs746016312
NM_001165963.4(SCN1A):c.3172A>G (p.Lys1058Glu)
NM_001165963.4(SCN1A):c.3182G>T (p.Cys1061Phe)
NM_001165963.4(SCN1A):c.3188C>T (p.Ser1063Phe) rs2105795201
NM_001165963.4(SCN1A):c.3195_3196del (p.Thr1066fs) rs1553540282
NM_001165963.4(SCN1A):c.3235G>A (p.Val1079Ile)
NM_001165963.4(SCN1A):c.3266G>A (p.Gly1089Asp) rs2105794575
NM_001165963.4(SCN1A):c.3268dup (p.Ser1090fs) rs796053070
NM_001165963.4(SCN1A):c.3278A>G (p.Glu1093Gly)
NM_001165963.4(SCN1A):c.3282del (p.Lys1094fs) rs1696338792
NM_001165963.4(SCN1A):c.3295G>T (p.Glu1099Ter) rs1553540207
NM_001165963.4(SCN1A):c.3308T>C (p.Met1103Thr) rs1559193311
NM_001165963.4(SCN1A):c.3308T>G (p.Met1103Arg)
NM_001165963.4(SCN1A):c.3329G>C (p.Ser1110Thr) rs528170959
NM_001165963.4(SCN1A):c.3347C>A (p.Pro1116Gln) rs1553540184
NM_001165963.4(SCN1A):c.3351del (p.Ile1117fs) rs1696322307
NM_001165963.4(SCN1A):c.3361G>T (p.Glu1121Ter) rs796052993
NM_001165963.4(SCN1A):c.3371_3372del (p.Asp1123_Phe1124insTer) rs1131691693
NM_001165963.4(SCN1A):c.3372T>A (p.Phe1124Leu)
NM_001165963.4(SCN1A):c.3377dup (p.Asn1126fs) rs1064796177
NM_001165963.4(SCN1A):c.3379T>G (p.Leu1127Val) rs1481310706
NM_001165963.4(SCN1A):c.3398G>T (p.Ser1133Ile) rs2105793124
NM_001165963.4(SCN1A):c.3399T>C (p.Ser1133=)
NM_001165963.4(SCN1A):c.3404A>G (p.Glu1135Gly) rs2105793043
NM_001165963.4(SCN1A):c.3405A>G (p.Glu1135=) rs796052954
NM_001165963.4(SCN1A):c.3409del (p.Asp1137fs) rs796053071
NM_001165963.4(SCN1A):c.3422G>T (p.Ser1141Ile)
NM_001165963.4(SCN1A):c.3425_3426del (p.Lys1142fs) rs886039529
NM_001165963.4(SCN1A):c.3429+109_3429+113del rs34673057
NM_001165963.4(SCN1A):c.3429+111_3429+113del rs34673057
NM_001165963.4(SCN1A):c.3429+1G>T rs1574166948
NM_001165963.4(SCN1A):c.3429G>A (p.Glu1143=) rs796052994
NM_001165963.4(SCN1A):c.3429G>C (p.Glu1143Asp) rs796052994
NM_001165963.4(SCN1A):c.3448_3451del (p.Ser1150fs) rs1064794495
NM_001165963.4(SCN1A):c.3457G>A (p.Glu1153Lys) rs1553534233
NM_001165963.4(SCN1A):c.3457G>T (p.Glu1153Ter) rs1553534233
NM_001165963.4(SCN1A):c.3480C>T (p.Gly1160=) rs369594817
NM_001165963.4(SCN1A):c.3496C>T (p.Gln1166Ter) rs368609628
NM_001165963.4(SCN1A):c.3508G>A (p.Glu1170Lys) rs1553534097
NM_001165963.4(SCN1A):c.3514G>A (p.Glu1172Lys) rs1553534085
NM_001165963.4(SCN1A):c.3530C>G (p.Pro1177Arg) rs752060724
NM_001165963.4(SCN1A):c.3538T>C (p.Cys1180Arg) rs1574069096
NM_001165963.4(SCN1A):c.3538T>G (p.Cys1180Gly) rs1574069096
NM_001165963.4(SCN1A):c.3542T>C (p.Phe1181Ser) rs2105628529
NM_001165963.4(SCN1A):c.3551-12_3551-11delinsGC rs2105612181
NM_001165963.4(SCN1A):c.3553T>C (p.Cys1185Arg) rs1553532782
NM_001165963.4(SCN1A):c.3553del (p.Cys1185fs) rs796053068
NM_001165963.4(SCN1A):c.3556G>A (p.Val1186Ile)
NM_001165963.4(SCN1A):c.3569dup (p.Cys1191fs) rs1692895957
NM_001165963.4(SCN1A):c.3607C>T (p.Gln1203Ter) rs796052995
NM_001165963.4(SCN1A):c.3610T>C (p.Trp1204Arg) rs121917930
NM_001165963.4(SCN1A):c.3618C>A (p.Asn1206Lys) rs762734890
NM_001165963.4(SCN1A):c.3620T>C (p.Leu1207Pro) rs121917963
NM_001165963.4(SCN1A):c.3622A>G (p.Arg1208Gly)
NM_001165963.4(SCN1A):c.3623G>A (p.Arg1208Lys) rs1559149025
NM_001165963.4(SCN1A):c.3627_3630del (p.Arg1209fs) rs1692878257
NM_001165963.4(SCN1A):c.3632G>A (p.Cys1211Tyr) rs1574060743
NM_001165963.4(SCN1A):c.3637C>G (p.Arg1213Gly) rs794726710
NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter) rs794726710
NM_001165963.4(SCN1A):c.3641T>C (p.Ile1214Thr) rs1692873873
NM_001165963.4(SCN1A):c.3646G>A (p.Glu1216Lys) rs398123590
NM_001165963.4(SCN1A):c.3646_3659del (p.Val1215_Glu1216insTer) rs2105610084
NM_001165963.4(SCN1A):c.3650A>G (p.His1217Arg) rs796052996
NM_001165963.4(SCN1A):c.3656G>A (p.Trp1219Ter) rs1692870117
NM_001165963.4(SCN1A):c.3658T>C (p.Phe1220Leu)
NM_001165963.4(SCN1A):c.3660del (p.Phe1220fs) rs1553532582
NM_001165963.4(SCN1A):c.3676T>G (p.Phe1226Val) rs2105609833
NM_001165963.4(SCN1A):c.3683T>G (p.Ile1228Ser) rs796052997
NM_001165963.4(SCN1A):c.3697G>A (p.Gly1233Ser)
NM_001165963.4(SCN1A):c.3698G>A (p.Gly1233Asp) rs1553532470
NM_001165963.4(SCN1A):c.3705+6T>C rs1692854443
NM_001165963.4(SCN1A):c.3710T>C (p.Phe1237Ser) rs1553531410
NM_001165963.4(SCN1A):c.3712G>A (p.Glu1238Lys) rs750364705
NM_001165963.4(SCN1A):c.3715G>C (p.Asp1239His) rs2105594076
NM_001165963.4(SCN1A):c.3717dup (p.Ile1240fs) rs1692581621
NM_001165963.4(SCN1A):c.3724_3725dup (p.Asp1243fs) rs796053072
NM_001165963.4(SCN1A):c.3733C>T (p.Arg1245Ter) rs727504136
NM_001165963.4(SCN1A):c.3740C>T (p.Thr1247Met)
NM_001165963.4(SCN1A):c.3769_3774del (p.Lys1257_Val1258del) rs2105593011
NM_001165963.4(SCN1A):c.3772G>A (p.Val1258Ile) rs796052998
NM_001165963.4(SCN1A):c.3776dup (p.Thr1260fs) rs796053073
NM_001165963.4(SCN1A):c.3778A>C (p.Thr1260Pro) rs121918739
NM_001165963.4(SCN1A):c.3783C>A (p.Tyr1261Ter) rs1043031572
NM_001165963.4(SCN1A):c.3787T>C (p.Phe1263Leu) rs1559144956
NM_001165963.4(SCN1A):c.3800T>C (p.Met1267Thr) rs1064795355
NM_001165963.4(SCN1A):c.3810A>C (p.Lys1270Asn) rs727504135
NM_001165963.4(SCN1A):c.3817G>C (p.Ala1273Pro) rs398123592
NM_001165963.4(SCN1A):c.3818C>T (p.Ala1273Val) rs794726841
NM_001165963.4(SCN1A):c.3820T>A (p.Tyr1274Asn) rs2105592343
NM_001165963.4(SCN1A):c.3821A>G (p.Tyr1274Cys) rs794726852
NM_001165963.4(SCN1A):c.3824G>A (p.Gly1275Asp) rs796053000
NM_001165963.4(SCN1A):c.3835del (p.Tyr1279fs) rs1574051206
NM_001165963.4(SCN1A):c.3850T>C (p.Trp1284Arg) rs796053001
NM_001165963.4(SCN1A):c.3852G>A (p.Trp1284Ter) rs1553531178
NM_001165963.4(SCN1A):c.3853dup (p.Cys1285fs) rs796053074
NM_001165963.4(SCN1A):c.3857G>A (p.Trp1286Ter) rs886039705
NM_001165963.4(SCN1A):c.3862G>C (p.Asp1288His) rs1553531134
NM_001165963.4(SCN1A):c.3866T>C (p.Phe1289Ser) rs794727224
NM_001165963.4(SCN1A):c.3877del (p.Asp1293fs) rs886041562
NM_001165963.4(SCN1A):c.3879+5G>A rs796052999
NM_001165963.4(SCN1A):c.3879+5G>T rs796052999
NM_001165963.4(SCN1A):c.3880-1G>A
NM_001165963.4(SCN1A):c.3880-305del rs146427393
NM_001165963.4(SCN1A):c.3880-338T>C rs72871943
NM_001165963.4(SCN1A):c.3885A>G (p.Ser1295=) rs2105571546
NM_001165963.4(SCN1A):c.3887T>C (p.Leu1296Ser) rs1553529633
NM_001165963.4(SCN1A):c.3888G>T (p.Leu1296Phe) rs998325208
NM_001165963.4(SCN1A):c.3898del (p.Thr1300fs) rs1057518229
NM_001165963.4(SCN1A):c.3908C>T (p.Ala1303Val)
NM_001165963.4(SCN1A):c.3914G>T (p.Gly1305Val) rs2105570936
NM_001165963.4(SCN1A):c.3922G>A (p.Glu1308Lys) rs1553529545
NM_001165963.4(SCN1A):c.3926T>G (p.Leu1309Arg) rs1553529527
NM_001165963.4(SCN1A):c.3929_3970del (p.Gly1310_Leu1324delinsVal) rs1064795733
NM_001165963.4(SCN1A):c.3932C>T (p.Ala1311Val) rs2105570494
NM_001165963.4(SCN1A):c.3938A>C (p.Lys1313Thr) rs1064795239
NM_001165963.4(SCN1A):c.3952_3975del (p.Leu1318_Arg1325del) rs1553529461
NM_001165963.4(SCN1A):c.3953_3956del (p.Leu1318fs) rs1064796964
NM_001165963.4(SCN1A):c.3957_3958del (p.Arg1319fs) rs1692162437
NM_001165963.4(SCN1A):c.3965G>C (p.Arg1322Thr) rs2105569996
NM_001165963.4(SCN1A):c.3966_3976del (p.Arg1322fs) rs796053107
NM_001165963.4(SCN1A):c.3968C>A (p.Pro1323His) rs1057521746
NM_001165963.4(SCN1A):c.3985C>T (p.Arg1329Ter) rs796053004
NM_001165963.4(SCN1A):c.4002+1G>T rs1692153643
NM_001165963.4(SCN1A):c.4002+2322A>G
NM_001165963.4(SCN1A):c.4002+2454G>A
NM_001165963.4(SCN1A):c.4002+2455G>C
NM_001165963.4(SCN1A):c.4002+2651dup rs560882795
NM_001165963.4(SCN1A):c.4003-168dup rs139683811
NM_001165963.4(SCN1A):c.4003-320_4003-319insAAAC rs10654011
NM_001165963.4(SCN1A):c.4003-5A>G rs1574007160
NM_001165963.4(SCN1A):c.4003-8T>G
NM_001165963.4(SCN1A):c.4006G>A (p.Val1336Ile) rs796053005
NM_001165963.4(SCN1A):c.4010T>G (p.Val1337Gly) rs794727338
NM_001165963.4(SCN1A):c.4016C>A (p.Ala1339Asp) rs794726789
NM_001165963.4(SCN1A):c.4018C>G (p.Leu1340Val) rs2105510551
NM_001165963.4(SCN1A):c.4027G>A (p.Ala1343Thr) rs796053006
NM_001165963.4(SCN1A):c.4027G>C (p.Ala1343Pro) rs796053006
NM_001165963.4(SCN1A):c.4027G>T (p.Ala1343Ser) rs796053006
NM_001165963.4(SCN1A):c.4036T>C (p.Ser1346Pro) rs1553525337
NM_001165963.4(SCN1A):c.4040T>C (p.Ile1347Thr) rs1553525325
NM_001165963.4(SCN1A):c.4044G>C (p.Met1348Ile) rs794726822
NM_001165963.4(SCN1A):c.4050G>A (p.Val1350=) rs2105510228
NM_001165963.4(SCN1A):c.4052T>C (p.Leu1351Pro) rs1553525313
NM_001165963.4(SCN1A):c.4060T>C (p.Cys1354Arg) rs1131691461
NM_001165963.4(SCN1A):c.4061G>C (p.Cys1354Ser) rs1057521537
NM_001165963.4(SCN1A):c.4074G>T (p.Trp1358Cys) rs1553525267
NM_001165963.4(SCN1A):c.4096G>T (p.Val1366Leu) rs121918805
NM_001165963.4(SCN1A):c.4107T>G (p.Phe1369Leu) rs2105509616
NM_001165963.4(SCN1A):c.4111G>C (p.Gly1371Arg) rs1064795303
NM_001165963.4(SCN1A):c.4111G>T (p.Gly1371Cys) rs1064795303
NM_001165963.4(SCN1A):c.4126T>A (p.Cys1376Ser) rs2105509369
NM_001165963.4(SCN1A):c.4133A>C (p.Asn1378Thr) rs1131691775
NM_001165963.4(SCN1A):c.4141A>G (p.Thr1381Ala)
NM_001165963.4(SCN1A):c.4141del (p.Thr1381fs) rs1553525146
NM_001165963.4(SCN1A):c.4151G>A (p.Arg1384Lys)
NM_001165963.4(SCN1A):c.4152G>A (p.Arg1384=) rs1691062261
NM_001165963.4(SCN1A):c.4156G>T (p.Asp1386Tyr) rs1691061383
NM_001165963.4(SCN1A):c.4158_4163delinsATAATCATACTGATTGCCTAAAACTAAT (p.Asp1386_Glu1388delinsGluTer) rs886039712
NM_001165963.4(SCN1A):c.4159A>G (p.Ile1387Val) rs764507532
NM_001165963.4(SCN1A):c.4160del (p.Ile1387fs) rs1064796714
NM_001165963.4(SCN1A):c.4166del (p.Asp1389fs) rs796053077
NM_001165963.4(SCN1A):c.4168G>A (p.Val1390Met) rs121917986
NM_001165963.4(SCN1A):c.4172A>G (p.Asn1391Ser) rs1553525062
NM_001165963.4(SCN1A):c.4190T>C (p.Leu1397Pro) rs2105508551
NM_001165963.4(SCN1A):c.4192A>T (p.Lys1398Ter) rs1553525023
NM_001165963.4(SCN1A):c.4200A>G (p.Ile1400Met)
NM_001165963.4(SCN1A):c.4205_4208del (p.Arg1402fs) rs1691048388
NM_001165963.4(SCN1A):c.4216dup (p.Ala1406fs) rs796053078
NM_001165963.4(SCN1A):c.4217C>A (p.Ala1406Asp) rs2105508284
NM_001165963.4(SCN1A):c.4219C>T (p.Arg1407Ter) rs398123593
NM_001165963.4(SCN1A):c.4224G>A (p.Trp1408Ter) rs794727337
NM_001165963.4(SCN1A):c.4230T>G (p.Asn1410Lys) rs1691043368
NM_001165963.4(SCN1A):c.4242C>G (p.Asn1414Lys) rs398123594
NM_001165963.4(SCN1A):c.4255G>T (p.Gly1419Ter) rs1085307893
NM_001165963.4(SCN1A):c.4262G>A (p.Gly1421Glu) rs1064795756
NM_001165963.4(SCN1A):c.4280A>T (p.Gln1427Leu) rs1057518062
NM_001165963.4(SCN1A):c.4284+2T>C rs398123595
NM_001165963.4(SCN1A):c.4284+5G>A rs1064797264
NM_001165963.4(SCN1A):c.4285-3T>C
NM_001165963.4(SCN1A):c.4285-4A>G rs796053007
NM_001165963.4(SCN1A):c.4285G>A (p.Ala1429Thr) rs796053008
NM_001165963.4(SCN1A):c.4297G>C (p.Gly1433Arg) rs121917908
NM_001165963.4(SCN1A):c.4298G>A (p.Gly1433Glu) rs121918741
NM_001165963.4(SCN1A):c.4300T>A (p.Trp1434Arg) rs121918789
NM_001165963.4(SCN1A):c.4300T>C (p.Trp1434Arg) rs121918789
NM_001165963.4(SCN1A):c.4304T>A (p.Met1435Lys) rs796053009
NM_001165963.4(SCN1A):c.4318del (p.Ala1440fs) rs796053079
NM_001165963.4(SCN1A):c.4321G>A (p.Ala1441Thr) rs121917974
NM_001165963.4(SCN1A):c.4338+1G>T rs1553523138
NM_001165963.4(SCN1A):c.4338+5G>A rs796053011
NM_001165963.4(SCN1A):c.4339-3T>A rs1467483299
NM_001165963.4(SCN1A):c.4339-5G>A rs1057522587
NM_001165963.4(SCN1A):c.4341G>A (p.Val1447=) rs1478635537
NM_001165963.4(SCN1A):c.4343A>G (p.Glu1448Gly)
NM_001165963.4(SCN1A):c.4348C>T (p.Gln1450Ter) rs121918806
NM_001165963.4(SCN1A):c.4359T>C (p.Tyr1453=) rs1573984787
NM_001165963.4(SCN1A):c.4363G>A (p.Glu1455Lys) rs1131691600
NM_001165963.4(SCN1A):c.4369C>G (p.Leu1457Val) rs796053013
NM_001165963.4(SCN1A):c.4378T>C (p.Tyr1460His) rs1573984593
NM_001165963.4(SCN1A):c.4386C>G (p.Tyr1462Ter) rs587781146
NM_001165963.4(SCN1A):c.4389T>A (p.Phe1463Leu) rs794727375
NM_001165963.4(SCN1A):c.4401C>A (p.Ile1467=) rs1690335252
NM_001165963.4(SCN1A):c.4407T>A (p.Phe1469Leu) rs794727376
NM_001165963.4(SCN1A):c.4412C>A (p.Ser1471Tyr) rs794726809
NM_001165963.4(SCN1A):c.4431G>T (p.Leu1477=)
NM_001165963.4(SCN1A):c.4433T>A (p.Phe1478Tyr) rs2105475961
NM_001165963.4(SCN1A):c.4433T>G (p.Phe1478Cys) rs2105475961
NM_001165963.4(SCN1A):c.4436T>C (p.Ile1479Thr)
NM_001165963.4(SCN1A):c.4438G>T (p.Gly1480Cys) rs796053015
NM_001165963.4(SCN1A):c.4441G>A (p.Val1481Ile) rs1085307484
NM_001165963.4(SCN1A):c.4446C>G (p.Ile1482Met) rs398123596
NM_001165963.4(SCN1A):c.4446C>T (p.Ile1482=) rs398123596
NM_001165963.4(SCN1A):c.4476+1A>G rs796053014
NM_001165963.4(SCN1A):c.4476+1A>T rs796053014
NM_001165963.4(SCN1A):c.4476+6T>G rs1057523807
NM_001165963.4(SCN1A):c.4476G>A (p.Lys1492=) rs1085307730
NM_001165963.4(SCN1A):c.4476G>C (p.Lys1492Asn)
NM_001165963.4(SCN1A):c.4477-3T>C rs1690013843
NM_001165963.4(SCN1A):c.4487A>C (p.Gln1496Pro) rs2105462677
NM_001165963.4(SCN1A):c.4493T>A (p.Ile1498Asn) rs796053017
NM_001165963.4(SCN1A):c.4497T>C (p.Phe1499=) rs2105462579
NM_001165963.4(SCN1A):c.4499T>C (p.Met1500Thr) rs745687892
NM_001165963.4(SCN1A):c.4504G>T (p.Glu1502Ter) rs1553521538
NM_001165963.4(SCN1A):c.4511A>T (p.Gln1504Leu) rs796053018
NM_001165963.4(SCN1A):c.4512G>T (p.Gln1504His) rs1559114837
NM_001165963.4(SCN1A):c.4521C>A (p.Tyr1507Ter) rs750997506
NM_001165963.4(SCN1A):c.4521C>G (p.Tyr1507Ter) rs750997506
NM_001165963.4(SCN1A):c.4521C>T (p.Tyr1507=) rs750997506
NM_001165963.4(SCN1A):c.4523A>G (p.Tyr1508Cys) rs2105462218
NM_001165963.4(SCN1A):c.4529C>T (p.Ala1510Val) rs796053019
NM_001165963.4(SCN1A):c.4532T>G (p.Met1511Arg) rs1553521507
NM_001165963.4(SCN1A):c.4543G>A (p.Gly1515Arg) rs796053020
NM_001165963.4(SCN1A):c.4547C>A (p.Ser1516Ter) rs139300715
NM_001165963.4(SCN1A):c.4548del (p.Lys1518fs) rs796053081
NM_001165963.4(SCN1A):c.4549A>T (p.Lys1517Ter) rs794726835
NM_001165963.4(SCN1A):c.4550A>G (p.Lys1517Arg) rs2105461833
NM_001165963.4(SCN1A):c.4551A>G (p.Lys1517=) rs374087499
NM_001165963.4(SCN1A):c.4554dup (p.Pro1519fs) rs794726825
NM_001165963.4(SCN1A):c.4555C>A (p.Pro1519Thr) rs796053021
NM_001165963.4(SCN1A):c.4562del (p.Lys1521fs) rs1064796343
NM_001165963.4(SCN1A):c.4573C>T (p.Arg1525Ter) rs794726752
NM_001165963.4(SCN1A):c.4577C>G (p.Pro1526Arg) rs796053022
NM_001165963.4(SCN1A):c.4580G>A (p.Gly1527Glu) rs751929295
NM_001165963.4(SCN1A):c.4581+173_4581+176del rs138116101
NM_001165963.4(SCN1A):c.4581+2T>A rs886039457
NM_001165963.4(SCN1A):c.4581+2T>C rs886039457
NM_001165963.4(SCN1A):c.4581+4A>G rs1689985134
NM_001165963.4(SCN1A):c.4582-110C>T rs75721122
NM_001165963.4(SCN1A):c.4582-11T>G
NM_001165963.4(SCN1A):c.4582-262GTTT[5] rs140431192
NM_001165963.4(SCN1A):c.4582-262GTTT[6] rs140431192
NM_001165963.4(SCN1A):c.4582-262GTTT[8] rs140431192
NM_001165963.4(SCN1A):c.4582-262GTTT[9] rs140431192
NM_001165963.4(SCN1A):c.4582-3C>A rs747649993
NM_001165963.4(SCN1A):c.4582A>G (p.Asn1528Asp) rs794727398
NM_001165963.4(SCN1A):c.4584C>A (p.Asn1528Lys) rs398123597
NM_001165963.4(SCN1A):c.4610dup (p.Val1538fs) rs886041982
NM_001165963.4(SCN1A):c.4630G>C (p.Asp1544His) rs1131691367
NM_001165963.4(SCN1A):c.4651A>T (p.Ile1551Phe) rs1553521053
NM_001165963.4(SCN1A):c.4654T>C (p.Cys1552Arg)
NM_001165963.4(SCN1A):c.4667T>A (p.Val1556Asp) rs398123598
NM_001165963.4(SCN1A):c.4667T>C (p.Val1556Ala)
NM_001165963.4(SCN1A):c.4668C>T (p.Val1556=)
NM_001165963.4(SCN1A):c.4672A>G (p.Met1558Val)
NM_001165963.4(SCN1A):c.4674G>A (p.Met1558Ile) rs796053023
NM_001165963.4(SCN1A):c.4681G>T (p.Glu1561Ter) rs796053024
NM_001165963.4(SCN1A):c.4687G>C (p.Asp1563His)
NM_001165963.4(SCN1A):c.4699G>A (p.Glu1567Lys) rs1037225738
NM_001165963.4(SCN1A):c.4701A>G (p.Glu1567=) rs796053025
NM_001165963.4(SCN1A):c.4706T>C (p.Val1569Ala) rs2105448762
NM_001165963.4(SCN1A):c.4726A>G (p.Ile1576Val) rs1689696329
NM_001165963.4(SCN1A):c.4727T>C (p.Ile1576Thr) rs2105448524
NM_001165963.4(SCN1A):c.4734G>T (p.Leu1578=)
NM_001165963.4(SCN1A):c.4744G>C (p.Val1582Leu) rs779090130
NM_001165963.4(SCN1A):c.4762T>C (p.Cys1588Arg) rs121917919
NM_001165963.4(SCN1A):c.4763G>A (p.Cys1588Tyr) rs1553520982
NM_001165963.4(SCN1A):c.4764T>A (p.Cys1588Ter) rs1553520980
NM_001165963.4(SCN1A):c.4765G>T (p.Val1589Leu) rs796053027
NM_001165963.4(SCN1A):c.4777_4778del (p.Ile1593fs) rs796053080
NM_001165963.4(SCN1A):c.4783_4784del (p.Leu1595fs) rs1689682880
NM_001165963.4(SCN1A):c.4786C>T (p.Arg1596Cys) rs121917993
NM_001165963.4(SCN1A):c.4787G>A (p.Arg1596His) rs575368466
NM_001165963.4(SCN1A):c.4794T>G (p.Tyr1598Ter) rs796053026
NM_001165963.4(SCN1A):c.4810T>C (p.Trp1604Arg) rs1573962964
NM_001165963.4(SCN1A):c.4812del (p.Gly1603_Trp1604insTer) rs886043532
NM_001165963.4(SCN1A):c.4821T>G (p.Phe1607Leu) rs1241198360
NM_001165963.4(SCN1A):c.4821del (p.Phe1607fs) rs796053083
NM_001165963.4(SCN1A):c.4830_4836delinsAGGTAATGG (p.Val1611fs) rs1573962628
NM_001165963.4(SCN1A):c.4838_4843delinsCAAAATGGTAGGTTGTCTTACCTA (p.Ile1613_Ser1615delinsThrLysTrpTer)
NM_001165963.4(SCN1A):c.4852+2T>A rs1689669178
NM_001165963.4(SCN1A):c.4853-1G>A rs1553520530
NM_001165963.4(SCN1A):c.4853-1G>C rs1553520530
NM_001165963.4(SCN1A):c.4859T>C (p.Phe1620Ser) rs1317010570
NM_001165963.4(SCN1A):c.4871T>C (p.Leu1624Pro) rs1689377026
NM_001165963.4(SCN1A):c.4896dup (p.Thr1633fs) rs796053084
NM_001165963.4(SCN1A):c.4905C>G (p.Phe1635Leu) rs774858072
NM_001165963.4(SCN1A):c.4906C>T (p.Arg1636Ter) rs199727342
NM_001165963.4(SCN1A):c.4906del (p.Arg1636fs) rs1553520483
NM_001165963.4(SCN1A):c.4907G>A (p.Arg1636Gln) rs121917995
NM_001165963.4(SCN1A):c.4910T>A (p.Val1637Glu) rs121918810
NM_001165963.4(SCN1A):c.4913T>A (p.Ile1638Asn)
NM_001165963.4(SCN1A):c.4916G>C (p.Arg1639Pro) rs796053029
NM_001165963.4(SCN1A):c.4926G>T (p.Arg1642Ser) rs1131691581
NM_001165963.4(SCN1A):c.4929T>C (p.Ile1643=) rs1573952870
NM_001165963.4(SCN1A):c.4931G>A (p.Gly1644Asp) rs796053030
NM_001165963.4(SCN1A):c.4933C>T (p.Arg1645Ter) rs794726759
NM_001165963.4(SCN1A):c.4934G>A (p.Arg1645Gln) rs121917976
NM_001165963.4(SCN1A):c.4942C>T (p.Arg1648Cys) rs121918791
NM_001165963.4(SCN1A):c.4943G>A (p.Arg1648His) rs121918622
NM_001165963.4(SCN1A):c.4943G>C (p.Arg1648Pro)
NM_001165963.4(SCN1A):c.4943G>T (p.Arg1648Leu) rs121918622
NM_001165963.4(SCN1A):c.4952A>C (p.Lys1651Thr) rs1553520446
NM_001165963.4(SCN1A):c.4953A>G (p.Lys1651=)
NM_001165963.4(SCN1A):c.4954G>T (p.Gly1652Ter) rs1553520442
NM_001165963.4(SCN1A):c.4965del (p.Ile1656fs) rs1573952473
NM_001165963.4(SCN1A):c.4972A>C (p.Thr1658Pro) rs1064794766
NM_001165963.4(SCN1A):c.4979T>C (p.Leu1660Pro) rs1131691675
NM_001165963.4(SCN1A):c.4990A>C (p.Met1664Leu) rs1689339718
NM_001165963.4(SCN1A):c.4995G>A (p.Met1665Ile) rs796053031
NM_001165963.4(SCN1A):c.4999C>T (p.Leu1667Phe) rs796053032
NM_001165963.4(SCN1A):c.5000T>C (p.Leu1667Pro) rs1131691774
NM_001165963.4(SCN1A):c.5008T>C (p.Leu1670=)
NM_001165963.4(SCN1A):c.5010_5013del (p.Phe1671fs) rs794726754
NM_001165963.4(SCN1A):c.5018T>C (p.Ile1673Thr) rs2105433516
NM_001165963.4(SCN1A):c.5018_5019delinsAG (p.Ile1673Lys) rs1553520404
NM_001165963.4(SCN1A):c.5020G>A (p.Gly1674Ser) rs121918792
NM_001165963.4(SCN1A):c.5020_5025del (p.Gly1674_Leu1675del) rs797044982
NM_001165963.4(SCN1A):c.5022C>T (p.Gly1674=) rs1689327411
NM_001165963.4(SCN1A):c.5044T>C (p.Phe1682Leu)
NM_001165963.4(SCN1A):c.5053G>C (p.Ala1685Pro) rs760249153
NM_001165963.4(SCN1A):c.5053G>T (p.Ala1685Ser) rs760249153
NM_001165963.4(SCN1A):c.5062G>A (p.Gly1688Arg) rs2105432939
NM_001165963.4(SCN1A):c.5093A>G (p.Glu1698Gly)
NM_001165963.4(SCN1A):c.5104G>T (p.Asp1702Tyr) rs748333147
NM_001165963.4(SCN1A):c.5115del (p.Phe1705fs)
NM_001165963.4(SCN1A):c.5117A>C (p.Asn1706Thr) rs1553520340
NM_001165963.4(SCN1A):c.5117A>G (p.Asn1706Ser) rs1553520340
NM_001165963.4(SCN1A):c.5119T>G (p.Phe1707Val) rs121917977
NM_001165963.4(SCN1A):c.5121T>A (p.Phe1707Leu) rs796053033
NM_001165963.4(SCN1A):c.5121T>G (p.Phe1707Leu) rs796053033
NM_001165963.4(SCN1A):c.5126C>A (p.Thr1709Asn) rs121918629
NM_001165963.4(SCN1A):c.5131G>A (p.Gly1711Ser) rs796053098
NM_001165963.4(SCN1A):c.5141T>C (p.Met1714Thr) rs121917949
NM_001165963.4(SCN1A):c.5146T>C (p.Cys1716Arg) rs121917926
NM_001165963.4(SCN1A):c.5153T>C (p.Phe1718Ser) rs1131691793
NM_001165963.4(SCN1A):c.5162C>A (p.Thr1721Lys) rs121917978
NM_001165963.4(SCN1A):c.5164A>G (p.Thr1722Ala) rs1553520321
NM_001165963.4(SCN1A):c.5168C>T (p.Ser1723Phe) rs796053099
NM_001165963.4(SCN1A):c.5182_5198del (p.Gly1728fs) rs1553520298
NM_001165963.4(SCN1A):c.5189T>C (p.Leu1730Pro) rs796053100
NM_001165963.4(SCN1A):c.5205C>T (p.Asn1735=) rs2105431102
NM_001165963.4(SCN1A):c.5209A>G (p.Lys1737Glu) rs1553520293
NM_001165963.4(SCN1A):c.5214A>T (p.Pro1738=) rs1553520290
NM_001165963.4(SCN1A):c.5218G>A (p.Asp1740Asn) rs796053035
NM_001165963.4(SCN1A):c.5218G>T (p.Asp1740Tyr) rs796053035
NM_001165963.4(SCN1A):c.5222G>A (p.Cys1741Tyr) rs794726763
NM_001165963.4(SCN1A):c.5245G>A (p.Gly1749Arg) rs1057518258
NM_001165963.4(SCN1A):c.5261G>T (p.Gly1754Val) rs796053036
NM_001165963.4(SCN1A):c.5270G>A (p.Gly1757Glu) rs1085307930
NM_001165963.4(SCN1A):c.5273_5277del (p.Asn1758fs) rs796053085
NM_001165963.4(SCN1A):c.5278T>C (p.Ser1760Pro)
NM_001165963.4(SCN1A):c.5279C>A (p.Ser1760Tyr)
NM_001165963.4(SCN1A):c.5282T>C (p.Val1761Ala) rs1057518252
NM_001165963.4(SCN1A):c.5294T>G (p.Phe1765Cys) rs1553520199
NM_001165963.4(SCN1A):c.5294_5298del (p.Phe1765fs) rs794726832
NM_001165963.4(SCN1A):c.5299del (p.Val1767fs) rs1553520197
NM_001165963.4(SCN1A):c.5303G>A (p.Ser1768Asn)
NM_001165963.4(SCN1A):c.5306A>G (p.Tyr1769Cys) rs886039460
NM_001165963.4(SCN1A):c.5326G>A (p.Val1776Ile) rs796053101
NM_001165963.4(SCN1A):c.5330T>C (p.Val1777Ala) rs1689245014
NM_001165963.4(SCN1A):c.5335A>G (p.Asn1779Asp) rs794727416
NM_001165963.4(SCN1A):c.5338A>G (p.Met1780Val) rs1085307945
NM_001165963.4(SCN1A):c.5347G>A (p.Ala1783Thr) rs121917980
NM_001165963.4(SCN1A):c.5348C>T (p.Ala1783Val) rs121917921
NM_001165963.4(SCN1A):c.5349G>C (p.Ala1783=) rs369500022
NM_001165963.4(SCN1A):c.5361G>T (p.Glu1787Asp) rs796053038
NM_001165963.4(SCN1A):c.5368A>G (p.Ser1790Gly) rs2105428797
NM_001165963.4(SCN1A):c.5375C>A (p.Ala1792Asp) rs1085307942
NM_001165963.4(SCN1A):c.5383G>C (p.Glu1795Gln) rs121918813
NM_001165963.4(SCN1A):c.5386del (p.Ser1796fs) rs1553520151
NM_001165963.4(SCN1A):c.5389G>A (p.Ala1797Thr) rs794727413
NM_001165963.4(SCN1A):c.5389G>C (p.Ala1797Pro) rs794727413
NM_001165963.4(SCN1A):c.5392G>T (p.Glu1798Ter)
NM_001165963.4(SCN1A):c.5403_5406del (p.Ser1801fs) rs1085307901
NM_001165963.4(SCN1A):c.5404G>A (p.Glu1802Lys) rs794726780
NM_001165963.4(SCN1A):c.5407G>A (p.Asp1803Asn) rs1553520143
NM_001165963.4(SCN1A):c.5416G>T (p.Glu1806Ter) rs796053039
NM_001165963.4(SCN1A):c.5422T>C (p.Phe1808Leu) rs121918757
NM_001165963.4(SCN1A):c.5426A>G (p.Tyr1809Cys) rs1260877885
NM_001165963.4(SCN1A):c.5429A>G (p.Glu1810Gly)
NM_001165963.4(SCN1A):c.5434T>G (p.Trp1812Gly) rs121918751
NM_001165963.4(SCN1A):c.5435G>A (p.Trp1812Ter) rs796053040
NM_001165963.4(SCN1A):c.5436G>C (p.Trp1812Cys) rs863225037
NM_001165963.4(SCN1A):c.5442G>C (p.Lys1814Asn)
NM_001165963.4(SCN1A):c.5452del (p.Asp1818fs) rs1131691500
NM_001165963.4(SCN1A):c.5468T>C (p.Met1823Thr) rs1559101839
NM_001165963.4(SCN1A):c.5483T>C (p.Leu1828Ser) rs1131691599
NM_001165963.4(SCN1A):c.5486del (p.Ser1829fs) rs1064796990
NM_001165963.4(SCN1A):c.5489_5490insAA (p.Phe1831fs) rs1573945872
NM_001165963.4(SCN1A):c.5492T>G (p.Phe1831Cys) rs121918748
NM_001165963.4(SCN1A):c.5495C>A (p.Ala1832Glu) rs2105427061
NM_001165963.4(SCN1A):c.5501C>T (p.Ala1834Val) rs780809852
NM_001165963.4(SCN1A):c.5504_5512del (p.Leu1835_Pro1837del) rs797044983
NM_001165963.4(SCN1A):c.5506G>T (p.Glu1836Ter) rs1064795579
NM_001165963.4(SCN1A):c.5515C>G (p.Leu1839Val) rs794726801
NM_001165963.4(SCN1A):c.5525C>T (p.Pro1842Leu)
NM_001165963.4(SCN1A):c.5536A>G (p.Lys1846Glu) rs372098964
NM_001165963.4(SCN1A):c.5536_5539del (p.Lys1846fs) rs794726726
NM_001165963.4(SCN1A):c.5539del (p.Leu1847fs) rs398123599
NM_001165963.4(SCN1A):c.5557G>C (p.Asp1853His) rs794727414
NM_001165963.4(SCN1A):c.5563C>T (p.Pro1855Ser) rs794727415
NM_001165963.4(SCN1A):c.5564C>T (p.Pro1855Leu) rs1057517958
NM_001165963.4(SCN1A):c.5567T>A (p.Met1856Lys) rs796053041
NM_001165963.4(SCN1A):c.5567T>C (p.Met1856Thr) rs796053041
NM_001165963.4(SCN1A):c.5582G>A (p.Arg1861Gln) rs796053042
NM_001165963.4(SCN1A):c.5600T>A (p.Ile1867Asn) rs1131691773
NM_001165963.4(SCN1A):c.5600T>C (p.Ile1867Thr) rs1131691773
NM_001165963.4(SCN1A):c.5606T>C (p.Phe1869Ser) rs1553520012
NM_001165963.4(SCN1A):c.5610T>A (p.Ala1870=) rs1403005079
NM_001165963.4(SCN1A):c.5615del (p.Thr1872fs) rs1553520001
NM_001165963.4(SCN1A):c.5621G>A (p.Arg1874Gln) rs1060502186
NM_001165963.4(SCN1A):c.5621G>C (p.Arg1874Pro)
NM_001165963.4(SCN1A):c.5623G>T (p.Val1875Phe) rs2105425295
NM_001165963.4(SCN1A):c.5627T>C (p.Leu1876Pro) rs796053044
NM_001165963.4(SCN1A):c.5630G>A (p.Gly1877Glu)
NM_001165963.4(SCN1A):c.5632G>C (p.Glu1878Gln) rs148703212
NM_001165963.4(SCN1A):c.5632_5634delinsAAT (p.Glu1878Asn) rs1573944260
NM_001165963.4(SCN1A):c.5634G>C (p.Glu1878Asp) rs748090629
NM_001165963.4(SCN1A):c.5635A>G (p.Ser1879Gly) rs2105425108
NM_001165963.4(SCN1A):c.5656C>T (p.Arg1886Ter) rs779614747
NM_001165963.4(SCN1A):c.5657G>A (p.Arg1886Gln) rs1559100385
NM_001165963.4(SCN1A):c.5665A>C (p.Met1889Leu)
NM_001165963.4(SCN1A):c.5670A>G (p.Glu1890=) rs1057519211
NM_001165963.4(SCN1A):c.5674C>T (p.Arg1892Ter) rs794726739
NM_001165963.4(SCN1A):c.5677T>C (p.Phe1893Leu) rs1085307686
NM_001165963.4(SCN1A):c.5681T>C (p.Met1894Thr) rs562208324
NM_001165963.4(SCN1A):c.5684C>A (p.Ala1895Asp) rs1039777371
NM_001165963.4(SCN1A):c.5691T>G (p.Asn1897Lys) rs1689157351
NM_001165963.4(SCN1A):c.5693C>T (p.Pro1898Leu) rs2105424381
NM_001165963.4(SCN1A):c.5708_5711dup (p.Pro1905fs) rs796053086
NM_001165963.4(SCN1A):c.5710C>T (p.Gln1904Ter) rs796053103
NM_001165963.4(SCN1A):c.5716A>G (p.Ile1906Val) rs1689151041
NM_001165963.4(SCN1A):c.5717T>C (p.Ile1906Thr) rs1689150507
NM_001165963.4(SCN1A):c.5719ACT[2] (p.Thr1909del) rs1553519902
NM_001165963.4(SCN1A):c.5726C>T (p.Thr1909Ile) rs121918793
NM_001165963.4(SCN1A):c.5734C>T (p.Arg1912Ter) rs77216276
NM_001165963.4(SCN1A):c.5741_5742del (p.Gln1914fs) rs1689146216
NM_001165963.4(SCN1A):c.5743G>A (p.Glu1915Lys) rs796053045
NM_001165963.4(SCN1A):c.5744_5748del (p.Glu1915fs) rs797044984
NM_001165963.4(SCN1A):c.5746G>T (p.Glu1916Ter) rs796053046
NM_001165963.4(SCN1A):c.5746del (p.Glu1916fs) rs796053087
NM_001165963.4(SCN1A):c.5753C>T (p.Ser1918Phe) rs796053048
NM_001165963.4(SCN1A):c.5755G>C (p.Ala1919Pro) rs796053104
NM_001165963.4(SCN1A):c.5765T>C (p.Ile1922Thr) rs121917981
NM_001165963.4(SCN1A):c.5773G>A (p.Ala1925Thr)
NM_001165963.4(SCN1A):c.5777A>G (p.Tyr1926Cys) rs376669368
NM_001165963.4(SCN1A):c.5778C>G (p.Tyr1926Ter) rs1064794251
NM_001165963.4(SCN1A):c.5782C>T (p.Arg1928Cys) rs121917956
NM_001165963.4(SCN1A):c.5787C>G (p.His1929Gln) rs371253263
NM_001165963.4(SCN1A):c.5788del (p.Leu1930fs) rs2105423091
NM_001165963.4(SCN1A):c.5797del (p.Arg1933fs) rs587780446
NM_001165963.4(SCN1A):c.5798G>T (p.Arg1933Leu) rs556893466
NM_001165963.4(SCN1A):c.5806A>G (p.Lys1936Glu) rs796053049
NM_001165963.4(SCN1A):c.5855_5857del (p.Asn1952_Leu1953delinsIle) rs1553519782
NM_001165963.4(SCN1A):c.5865A>G (p.Ile1955Met) rs796052952
NM_001165963.4(SCN1A):c.5876T>C (p.Met1959Thr) rs1368302993
NM_001165963.4(SCN1A):c.5877_5879del (p.Met1959del) rs2105421697
NM_001165963.4(SCN1A):c.5881A>G (p.Ile1961Val)
NM_001165963.4(SCN1A):c.5888G>C (p.Arg1963Thr)
NM_001165963.4(SCN1A):c.5896G>T (p.Glu1966Ter) rs1057524615
NM_001165963.4(SCN1A):c.5911G>C (p.Glu1971Gln) rs1553519738
NM_001165963.4(SCN1A):c.5917dup (p.Thr1973fs) rs1480668529
NM_001165963.4(SCN1A):c.5956T>C (p.Tyr1986His) rs2105421114
NM_001165963.4(SCN1A):c.5962C>T (p.Arg1988Trp) rs756519197
NM_001165963.4(SCN1A):c.5972del (p.Lys1991fs) rs1388173033
NM_001165963.4(SCN1A):c.5975C>T (p.Pro1992Leu)
NM_001165963.4(SCN1A):c.6009_6013dup (p.Lys2005fs) rs1553519690
NM_001165963.4(SCN1A):c.6019A>G (p.Lys2007Glu) rs761426364
NM_001165963.4(SCN1A):c.6021A>T (p.Lys2007Asn) rs2105420299
NM_001165963.4(SCN1A):c.6027A>G (p.Lys2009=)

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