Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51769285C>A | CA384893656 | SCN8A | c.3322C>A (p.Leu1108Ile) c.1169C>A c.1386C>A c.3355C>A (p.Leu1119Ile) n.314C>A | |
12 | g.51769285C>G | CA384893657 | SCN8A | c.3322C>G (p.Leu1108Val) c.1169C>G c.1386C>G c.3355C>G (p.Leu1119Val) n.314C>G | gnomAD v4 |
12 | g.51769285C>T | CA384893658 | SCN8A | c.3322C>T (p.Leu1108Phe) c.1169C>T c.1386C>T c.3355C>T (p.Leu1119Phe) n.314C>T | |
12 | g.51769286T>A | CA384893659 | SCN8A | c.3323T>A (p.Leu1108His) c.1170T>A c.1387T>A c.3356T>A (p.Leu1119His) n.315T>A | |
12 | g.51769286T>C | CA384893662 | SCN8A | c.3323T>C (p.Leu1108Pro) c.1170T>C c.1387T>C c.3356T>C (p.Leu1119Pro) n.315T>C | |
12 | g.51769286T>G | CA384893663 | SCN8A | c.3323T>G (p.Leu1108Arg) c.1170T>G c.1387T>G c.3356T>G (p.Leu1119Arg) n.315T>G | |
12 | g.51769287C>A | CA480061445 | SCN8A | c.3324C>A (p.Leu1108=) c.1171C>A c.1388C>A c.3357C>A (p.Leu1119=) n.316C>A | |
12 | g.51769287C>G | CA480061446 | SCN8A | c.3324C>G (p.Leu1108=) c.1171C>G c.1388C>G c.3357C>G (p.Leu1119=) n.316C>G | |
12 | g.51769287C>T | CA480061448 | SCN8A | c.3324C>T (p.Leu1108=) c.1171C>T c.1388C>T c.3357C>T (p.Leu1119=) n.316C>T | gnomAD v4 |
12 | g.51769288A= | CA2036188630 | SCN8A | c.3325A= (p.Asn1109=) c.1172A= c.1389A= c.3358A= (p.Asn1120=) n.317A= | |
12 | g.51769288A>C | CA384893664 | SCN8A | c.3325A>C (p.Asn1109His) c.1172A>C c.1389A>C c.3358A>C (p.Asn1120His) n.317A>C | dbSNP |
12 | g.51769288A>G | CA384893665 | SCN8A | c.3325A>G (p.Asn1109Asp) c.1172A>G c.1389A>G c.3358A>G (p.Asn1120Asp) n.317A>G | |
12 | g.51769288A>T | CA384893672 | SCN8A | c.3325A>T (p.Asn1109Tyr) c.1172A>T c.1389A>T c.3358A>T (p.Asn1120Tyr) n.317A>T | |
12 | g.51769289A>C | CA384893682 | SCN8A | c.3326A>C (p.Asn1109Thr) c.1173A>C c.1390A>C c.3359A>C (p.Asn1120Thr) n.318A>C | |
12 | g.51769289A>G | CA384893684 | SCN8A | c.3326A>G (p.Asn1109Ser) c.1173A>G c.1390A>G c.3359A>G (p.Asn1120Ser) n.318A>G | |
12 | g.51769289A>T | CA384893676 | SCN8A | c.3326A>T (p.Asn1109Ile) c.1173A>T c.1390A>T c.3359A>T (p.Asn1120Ile) n.318A>T | |
12 | g.51769290C>A | CA384893685 | SCN8A | c.3327C>A (p.Asn1109Lys) c.1174C>A c.1391C>A c.3360C>A (p.Asn1120Lys) n.319C>A | |
12 | g.51769290C= | CA2036188635 | SCN8A | c.3327C= (p.Asn1109=) c.1174C= c.1391C= c.3360C= (p.Asn1120=) n.319C= | |
12 | g.51769290C>G | CA384893686 | SCN8A | c.3327C>G (p.Asn1109Lys) c.1174C>G c.1391C>G c.3360C>G (p.Asn1120Lys) n.319C>G | ClinVar |
12 | g.51769290C>T | CA480061450 | SCN8A | c.3327C>T (p.Asn1109=) c.1174C>T c.1391C>T c.3360C>T (p.Asn1120=) n.319C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.51769291A>C | CA384893689 | SCN8A | c.3328A>C (p.Thr1110Pro) c.1175A>C c.1392A>C c.3361A>C (p.Thr1121Pro) n.320A>C | |
12 | g.51769291A>G | CA384893692 | SCN8A | c.3328A>G (p.Thr1110Ala) c.1175A>G c.1392A>G c.3361A>G (p.Thr1121Ala) n.320A>G | gnomAD v4 |
12 | g.51769291A>T | CA384893695 | SCN8A | c.3328A>T (p.Thr1110Ser) c.1175A>T c.1392A>T c.3361A>T (p.Thr1121Ser) n.320A>T | |
12 | g.51769292C>A | CA384893704 | SCN8A | c.3329C>A (p.Thr1110Lys) c.1176C>A c.1393C>A c.3362C>A (p.Thr1121Lys) n.321C>A | |
12 | g.51769292C>G | CA384893707 | SCN8A | c.3329C>G (p.Thr1110Arg) c.1176C>G c.1393C>G c.3362C>G (p.Thr1121Arg) n.321C>G | |
12 | g.51769292C>T | CA384893711 | SCN8A | c.3329C>T (p.Thr1110Ile) c.1176C>T c.1393C>T c.3362C>T (p.Thr1121Ile) n.321C>T | |
12 | g.51769293A>C | CA480061452 | SCN8A | c.3330A>C (p.Thr1110=) c.1177A>C c.1394A>C c.3363A>C (p.Thr1121=) n.322A>C | |
12 | g.51769293A>G | CA480061453 | SCN8A | c.3330A>G (p.Thr1110=) c.1177A>G c.1394A>G c.3363A>G (p.Thr1121=) n.322A>G | ClinVar gnomAD v4 |
12 | g.51769293A>T | CA480061454 | SCN8A | c.3330A>T (p.Thr1110=) c.1177A>T c.1394A>T c.3363A>T (p.Thr1121=) n.322A>T | |
12 | g.51769294G>A | CA384893714 | SCN8A | c.3331G>A (p.Glu1111Lys) c.1178G>A c.1395G>A c.3364G>A (p.Glu1122Lys) n.323G>A | |
12 | g.51769294G>C | CA384893718 | SCN8A | c.3331G>C (p.Glu1111Gln) c.1178G>C c.1395G>C c.3364G>C (p.Glu1122Gln) n.323G>C | ClinVar |
12 | g.51769294G= | CA2036188637 | SCN8A | c.3331G= (p.Glu1111=) c.1178G= c.1395G= c.3364G= (p.Glu1122=) n.323G= | |
12 | g.51769294G>T | CA384893720 | SCN8A | c.3331G>T (p.Glu1111Ter) c.1178G>T c.1395G>T c.3364G>T (p.Glu1122Ter) n.323G>T | dbSNP |
12 | g.51769295A>C | CA384893724 | SCN8A | c.3332A>C (p.Glu1111Ala) c.1179A>C c.1396A>C c.3365A>C (p.Glu1122Ala) n.324A>C | |
12 | g.51769295A>G | CA384893725 | SCN8A | c.3332A>G (p.Glu1111Gly) c.1179A>G c.1396A>G c.3365A>G (p.Glu1122Gly) n.324A>G | |
12 | g.51769295A>T | CA384893726 | SCN8A | c.3332A>T (p.Glu1111Val) c.1179A>T c.1396A>T c.3365A>T (p.Glu1122Val) n.324A>T | |
12 | g.51769296G>A | CA480061455 | SCN8A | c.3333G>A (p.Glu1111=) c.1180G>A c.1397G>A c.3366G>A (p.Glu1122=) n.325G>A | |
12 | g.51769296G>C | CA384893728 | SCN8A | c.3333G>C (p.Glu1111Asp) c.1180G>C c.1397G>C c.3366G>C (p.Glu1122Asp) n.325G>C | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51769296G= | CA2036188640 | SCN8A | c.3333G= (p.Glu1111=) c.1180G= c.1397G= c.3366G= (p.Glu1122=) n.325G= | |
12 | g.51769296G>T | CA384893730 | SCN8A | c.3333G>T (p.Glu1111Asp) c.1180G>T c.1397G>T c.3366G>T (p.Glu1122Asp) n.325G>T | |
12 | g.51769297G>A | CA384893734 | SCN8A | c.3334G>A (p.Asp1112Asn) c.1181G>A c.1398G>A c.3367G>A (p.Asp1123Asn) n.326G>A | |
12 | g.51769297G>C | CA384893742 | SCN8A | c.3334G>C (p.Asp1112His) c.1181G>C c.1398G>C c.3367G>C (p.Asp1123His) n.326G>C | |
12 | g.51769297G>T | CA384893743 | SCN8A | c.3334G>T (p.Asp1112Tyr) c.1181G>T c.1398G>T c.3367G>T (p.Asp1123Tyr) n.326G>T | |
12 | g.51769298A= | CA2036188644 | SCN8A | c.3335A= (p.Asp1112=) c.1182A= c.1399A= c.3368A= (p.Asp1123=) n.327A= | |
12 | g.51769298A>C | CA384893746 | SCN8A | c.3335A>C (p.Asp1112Ala) c.1182A>C c.1399A>C c.3368A>C (p.Asp1123Ala) n.327A>C | |
12 | g.51769298A>G | CA6571578 | SCN8A | c.3335A>G (p.Asp1112Gly) c.1182A>G c.1399A>G c.3368A>G (p.Asp1123Gly) n.327A>G | dbSNP ExAC gnomAD v2 |
12 | g.51769298A>T | CA384893751 | SCN8A | c.3335A>T (p.Asp1112Val) c.1182A>T c.1399A>T c.3368A>T (p.Asp1123Val) n.327A>T | |
12 | g.51769299T>A | CA384893758 | SCN8A | c.3336T>A (p.Asp1112Glu) c.1183T>A c.1400T>A c.3369T>A (p.Asp1123Glu) n.328T>A | ClinVar dbSNP gnomAD v4 |
12 | g.51769299T>C | CA480061457 | SCN8A | c.3336T>C (p.Asp1112=) c.1183T>C c.1400T>C c.3369T>C (p.Asp1123=) n.328T>C | |
12 | g.51769299T>G | CA384893760 | SCN8A | c.3336T>G (p.Asp1112Glu) c.1183T>G c.1400T>G c.3369T>G (p.Asp1123Glu) n.328T>G | |
12 | g.51769299T= | CA2036188650 | SCN8A | c.3336T= (p.Asp1112=) c.1183T= c.1400T= c.3369T= (p.Asp1123=) n.328T= | |
12 | g.51769300G>A | CA384893764 | SCN8A | c.3337G>A (p.Val1113Ile) c.1184G>A c.1401G>A c.3370G>A (p.Val1124Ile) n.329G>A | |
12 | g.51769300G>C | CA384893766 | SCN8A | c.3337G>C (p.Val1113Leu) c.1184G>C c.1401G>C c.3370G>C (p.Val1124Leu) n.329G>C | |
12 | g.51769300G>T | CA384893771 | SCN8A | c.3337G>T (p.Val1113Phe) c.1184G>T c.1401G>T c.3370G>T (p.Val1124Phe) n.329G>T | |
12 | g.51769301T>A | CA384893776 | SCN8A | c.3338T>A (p.Val1113Asp) c.1185T>A c.1402T>A c.3371T>A (p.Val1124Asp) n.330T>A | |
12 | g.51769301T>C | CA384893783 | SCN8A | c.3338T>C (p.Val1113Ala) c.1185T>C c.1402T>C c.3371T>C (p.Val1124Ala) n.330T>C | |
12 | g.51769301T>G | CA384893786 | SCN8A | c.3338T>G (p.Val1113Gly) c.1185T>G c.1402T>G c.3371T>G (p.Val1124Gly) n.330T>G | |
12 | g.51769302T>A | CA480061462 | SCN8A | c.3339T>A (p.Val1113=) c.1186T>A c.1403T>A c.3372T>A (p.Val1124=) n.331T>A | |
12 | g.51769302T>C | CA480061463 | SCN8A | c.3339T>C (p.Val1113=) c.1186T>C c.1403T>C c.3372T>C (p.Val1124=) n.331T>C | ClinVar dbSNP |
12 | g.51769302T>G | CA480061464 | SCN8A | c.3339T>G (p.Val1113=) c.1186T>G c.1403T>G c.3372T>G (p.Val1124=) n.331T>G | |
12 | g.51769303A>C | CA384893795 | SCN8A | c.3340A>C (p.Ser1114Arg) c.1187A>C c.1404A>C c.3373A>C (p.Ser1125Arg) n.332A>C | |
12 | g.51769303A>G | CA384893798 | SCN8A | c.3340A>G (p.Ser1114Gly) c.1187A>G c.1404A>G c.3373A>G (p.Ser1125Gly) n.332A>G | |
12 | g.51769303A>T | CA384893790 | SCN8A | c.3340A>T (p.Ser1114Cys) c.1187A>T c.1404A>T c.3373A>T (p.Ser1125Cys) n.332A>T | |
12 | g.51769306_51769308del | CA2575160198 | SCN8A | c.3343_3345del (p.Ser1115del) c.1190_1192del c.1407_1409del c.3376_3378del (p.Ser1126del) n.335_337del | |
12 | g.51769304G>A | CA384893806 | SCN8A | c.3341G>A (p.Ser1114Asn) c.1188G>A c.1405G>A c.3374G>A (p.Ser1125Asn) n.333G>A | |
12 | g.51769304G>C | CA384893801 | SCN8A | c.3341G>C (p.Ser1114Thr) c.1188G>C c.1405G>C c.3374G>C (p.Ser1125Thr) n.333G>C | |
12 | g.51769304G>T | CA384893807 | SCN8A | c.3341G>T (p.Ser1114Ile) c.1188G>T c.1405G>T c.3374G>T (p.Ser1125Ile) n.333G>T | |
12 | g.51769305C>A | CA384893811 | SCN8A | c.3342C>A (p.Ser1114Arg) c.1189C>A c.1406C>A c.3375C>A (p.Ser1125Arg) n.334C>A | |
12 | g.51769305C>G | CA384893827 | SCN8A | c.3342C>G (p.Ser1114Arg) c.1189C>G c.1406C>G c.3375C>G (p.Ser1125Arg) n.334C>G | |
12 | g.51769305C>T | CA480061471 | SCN8A | c.3342C>T (p.Ser1114=) c.1189C>T c.1406C>T c.3375C>T (p.Ser1125=) n.334C>T | |
12 | g.51769306A= | CA2036188656 | SCN8A | c.3343A= (p.Ser1115=) c.1190A= c.1407A= c.3376A= (p.Ser1126=) n.335A= | |
12 | g.51769306A>C | CA384893831 | SCN8A | c.3343A>C (p.Ser1115Arg) c.1190A>C c.1407A>C c.3376A>C (p.Ser1126Arg) n.335A>C | |
12 | g.51769306A>G | CA384893834 | SCN8A | c.3343A>G (p.Ser1115Gly) c.1190A>G c.1407A>G c.3376A>G (p.Ser1126Gly) n.335A>G | dbSNP gnomAD v4 |
12 | g.51769306A>T | CA384893836 | SCN8A | c.3343A>T (p.Ser1115Cys) c.1190A>T c.1407A>T c.3376A>T (p.Ser1126Cys) n.335A>T | |
12 | g.51769307G>A | CA384893839 | SCN8A | c.3344G>A (p.Ser1115Asn) c.1191G>A c.1408G>A c.3377G>A (p.Ser1126Asn) n.336G>A | gnomAD v4 |
12 | g.51769307G>C | CA384893840 | SCN8A | c.3344G>C (p.Ser1115Thr) c.1191G>C c.1408G>C c.3377G>C (p.Ser1126Thr) n.336G>C | |
12 | g.51769307G>T | CA384893841 | SCN8A | c.3344G>T (p.Ser1115Ile) c.1191G>T c.1408G>T c.3377G>T (p.Ser1126Ile) n.336G>T | |
12 | g.51769308C>A | CA384893843 | SCN8A | c.3345C>A (p.Ser1115Arg) c.1192C>A c.1409C>A c.3378C>A (p.Ser1126Arg) n.337C>A | gnomAD v4 |
12 | g.51769308C= | CA2036188666 | SCN8A | c.3345C= (p.Ser1115=) c.1192C= c.1409C= c.3378C= (p.Ser1126=) n.337C= | |
12 | g.51769308C>G | CA384893845 | SCN8A | c.3345C>G (p.Ser1115Arg) c.1192C>G c.1409C>G c.3378C>G (p.Ser1126Arg) n.337C>G | |
12 | g.51769308C>T | CA6571579 | SCN8A | c.3345C>T (p.Ser1115=) c.1192C>T c.1409C>T c.3378C>T (p.Ser1126=) n.337C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51769309G>A | CA384893855 | SCN8A | c.3346G>A (p.Glu1116Lys) c.1193G>A c.1410G>A c.3379G>A (p.Glu1127Lys) n.338G>A | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
12 | g.51769309G>C | CA384893854 | SCN8A | c.3346G>C (p.Glu1116Gln) c.1193G>C c.1410G>C c.3379G>C (p.Glu1127Gln) n.338G>C | gnomAD v4 |
12 | g.51769309G= | CA2036188676 | SCN8A | c.3346G= (p.Glu1116=) c.1193G= c.1410G= c.3379G= (p.Glu1127=) n.338G= | |
12 | g.51769309G>T | CA384893853 | SCN8A | c.3346G>T (p.Glu1116Ter) c.1193G>T c.1410G>T c.3379G>T (p.Glu1127Ter) n.338G>T | dbSNP gnomAD v4 |
12 | g.51769310A>C | CA384893859 | SCN8A | c.3347A>C (p.Glu1116Ala) c.1194A>C c.1411A>C c.3380A>C (p.Glu1127Ala) n.339A>C | |
12 | g.51769310A>G | CA384893864 | SCN8A | c.3347A>G (p.Glu1116Gly) c.1194A>G c.1411A>G c.3380A>G (p.Glu1127Gly) n.339A>G | |
12 | g.51769310A>T | CA384893865 | SCN8A | c.3347A>T (p.Glu1116Val) c.1194A>T c.1411A>T c.3380A>T (p.Glu1127Val) n.339A>T | |
12 | g.51769311G>A | CA480061482 | SCN8A | c.3348G>A (p.Glu1116=) c.1195G>A c.1412G>A c.3381G>A (p.Glu1127=) n.340G>A | |
12 | g.51769311G>C | CA384893873 | SCN8A | c.3348G>C (p.Glu1116Asp) c.1195G>C c.1412G>C c.3381G>C (p.Glu1127Asp) n.340G>C | |
12 | g.51769311G>T | CA384893875 | SCN8A | c.3348G>T (p.Glu1116Asp) c.1195G>T c.1412G>T c.3381G>T (p.Glu1127Asp) n.340G>T | |
12 | g.51769312T>A | CA384893876 | SCN8A | c.3349T>A (p.Ser1117Thr) c.1196T>A c.1413T>A c.3382T>A (p.Ser1128Thr) n.341T>A | |
12 | g.51769312T>C | CA384893879 | SCN8A | c.3349T>C (p.Ser1117Pro) c.1196T>C c.1413T>C c.3382T>C (p.Ser1128Pro) n.341T>C | |
12 | g.51769312T>G | CA384893884 | SCN8A | c.3349T>G (p.Ser1117Ala) c.1196T>G c.1413T>G c.3382T>G (p.Ser1128Ala) n.341T>G | |
12 | g.51769313C>A | CA384893891 | SCN8A | c.3350C>A (p.Ser1117Ter) c.1197C>A c.1414C>A c.3383C>A (p.Ser1128Ter) n.342C>A | dbSNP gnomAD v4 |
12 | g.51769313C= | CA2036188686 | SCN8A | c.3350C= (p.Ser1117=) c.1197C= c.1414C= c.3383C= (p.Ser1128=) n.342C= | |
12 | g.51769313C>G | CA384893894 | SCN8A | c.3350C>G (p.Ser1117Trp) c.1197C>G c.1414C>G c.3383C>G (p.Ser1128Trp) n.342C>G | |
12 | g.51769313C>T | CA6571580 | SCN8A | c.3350C>T (p.Ser1117Leu) c.1197C>T c.1414C>T c.3383C>T (p.Ser1128Leu) n.342C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
12 | g.51769314G>A | CA6571581 | SCN8A | c.3351G>A (p.Ser1117=) c.1198G>A c.1415G>A c.3384G>A (p.Ser1128=) n.343G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51769314G>C | CA480061488 | SCN8A | c.3351G>C (p.Ser1117=) c.1198G>C c.1415G>C c.3384G>C (p.Ser1128=) n.343G>C | |
12 | g.51769314G= | CA2036188697 | SCN8A | c.3351G= (p.Ser1117=) c.1198G= c.1415G= c.3384G= (p.Ser1128=) n.343G= | |
12 | g.51769314G>T | CA480061489 | SCN8A | c.3351G>T (p.Ser1117=) c.1198G>T c.1415G>T c.3384G>T (p.Ser1128=) n.343G>T | COSMIC COSMIC |
12 | g.51769315G>A | CA384893906 | SCN8A | c.3352G>A (p.Asp1118Asn) c.1199G>A c.1416G>A c.3385G>A (p.Asp1129Asn) n.344G>A | |
12 | g.51769315G>C | CA384893905 | SCN8A | c.3352G>C (p.Asp1118His) c.1199G>C c.1416G>C c.3385G>C (p.Asp1129His) n.344G>C | |
12 | g.51769315G= | CA2036188701 | SCN8A | c.3352G= (p.Asp1118=) c.1199G= c.1416G= c.3385G= (p.Asp1129=) n.344G= | |
12 | g.51769315G>T | CA384893904 | SCN8A | c.3352G>T (p.Asp1118Tyr) c.1199G>T c.1416G>T c.3385G>T (p.Asp1129Tyr) n.344G>T | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
12 | g.51769316A>C | CA384893908 | SCN8A | c.3353A>C (p.Asp1118Ala) c.1200A>C c.1417A>C c.3386A>C (p.Asp1129Ala) n.345A>C | |
12 | g.51769316A>G | CA384893910 | SCN8A | c.3353A>G (p.Asp1118Gly) c.1200A>G c.1417A>G c.3386A>G (p.Asp1129Gly) n.345A>G | |
12 | g.51769316A>T | CA384893915 | SCN8A | c.3353A>T (p.Asp1118Val) c.1200A>T c.1417A>T c.3386A>T (p.Asp1129Val) n.345A>T | |
12 | g.51769317T>A | CA384893921 | SCN8A | c.3354T>A (p.Asp1118Glu) c.1201T>A c.1418T>A c.3387T>A (p.Asp1129Glu) n.346T>A | |
12 | g.51769317T>C | CA480061492 | SCN8A | c.3354T>C (p.Asp1118=) c.1201T>C c.1418T>C c.3387T>C (p.Asp1129=) n.346T>C | |
12 | g.51769317T>G | CA384893924 | SCN8A | c.3354T>G (p.Asp1118Glu) c.1201T>G c.1418T>G c.3387T>G (p.Asp1129Glu) n.346T>G | |
12 | g.51769318C>A | CA384893933 | SCN8A | c.3355C>A (p.Pro1119Thr) c.1202C>A c.1419C>A c.3388C>A (p.Pro1130Thr) n.347C>A | |
12 | g.51769318C>G | CA384893929 | SCN8A | c.3355C>G (p.Pro1119Ala) c.1202C>G c.1419C>G c.3388C>G (p.Pro1130Ala) n.347C>G | |
12 | g.51769318C>T | CA384893927 | SCN8A | c.3355C>T (p.Pro1119Ser) c.1202C>T c.1419C>T c.3388C>T (p.Pro1130Ser) n.347C>T | |
12 | g.51769319C>A | CA384893934 | SCN8A | c.3356C>A (p.Pro1119His) c.1203C>A c.1420C>A c.3389C>A (p.Pro1130His) n.348C>A | |
12 | g.51769319C= | CA2036188706 | SCN8A | c.3356C= (p.Pro1119=) c.1203C= c.1420C= c.3389C= (p.Pro1130=) n.348C= | |
12 | g.51769319C>G | CA384893936 | SCN8A | c.3356C>G (p.Pro1119Arg) c.1203C>G c.1420C>G c.3389C>G (p.Pro1130Arg) n.348C>G | |
12 | g.51769319C>T | CA318262 | SCN8A | c.3356C>T (p.Pro1119Leu) c.1203C>T c.1420C>T c.3389C>T (p.Pro1130Leu) n.348C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51769320T>A | CA480061497 | SCN8A | c.3357T>A (p.Pro1119=) c.1204T>A c.1421T>A c.3390T>A (p.Pro1130=) n.349T>A | |
12 | g.51769320T>C | CA480061498 | SCN8A | c.3357T>C (p.Pro1119=) c.1204T>C c.1421T>C c.3390T>C (p.Pro1130=) n.349T>C | |
12 | g.51769320T>G | CA480061499 | SCN8A | c.3357T>G (p.Pro1119=) c.1204T>G c.1421T>G c.3390T>G (p.Pro1130=) n.349T>G | |
12 | g.51769321G>A | CA384893940 | SCN8A | c.3358G>A (p.Glu1120Lys) c.1205G>A c.1422G>A c.3391G>A (p.Glu1131Lys) n.350G>A | gnomAD v4 |
12 | g.51769321G>C | CA384893941 | SCN8A | c.3358G>C (p.Glu1120Gln) c.1205G>C c.1422G>C c.3391G>C (p.Glu1131Gln) n.350G>C | |
12 | g.51769321G= | CA2036188712 | SCN8A | c.3358G= (p.Glu1120=) c.1205G= c.1422G= c.3391G= (p.Glu1131=) n.350G= | |
12 | g.51769321G>T | CA384893942 | SCN8A | c.3358G>T (p.Glu1120Ter) c.1205G>T c.1422G>T c.3391G>T (p.Glu1131Ter) n.350G>T | dbSNP |
12 | g.51769322A>C | CA384893943 | SCN8A | c.3359A>C (p.Glu1120Ala) c.1206A>C c.1423A>C c.3392A>C (p.Glu1131Ala) n.351A>C | |
12 | g.51769322A>G | CA384893946 | SCN8A | c.3359A>G (p.Glu1120Gly) c.1206A>G c.1423A>G c.3392A>G (p.Glu1131Gly) n.351A>G | |
12 | g.51769322A>T | CA384893945 | SCN8A | c.3359A>T (p.Glu1120Val) c.1206A>T c.1423A>T c.3392A>T (p.Glu1131Val) n.351A>T | |
12 | g.51769323A>C | CA384893947 | SCN8A | c.3360A>C (p.Glu1120Asp) c.1207A>C c.1424A>C c.3393A>C (p.Glu1131Asp) n.352A>C | |
12 | g.51769323A>G | CA480061504 | SCN8A | c.3360A>G (p.Glu1120=) c.1207A>G c.1424A>G c.3393A>G (p.Glu1131=) n.352A>G | |
12 | g.51769323A>T | CA384893950 | SCN8A | c.3360A>T (p.Glu1120Asp) c.1207A>T c.1424A>T c.3393A>T (p.Glu1131Asp) n.352A>T | |
12 | g.51769324G>A | CA384893957 | SCN8A | c.3361G>A (p.Gly1121Ser) c.1208G>A c.1425G>A c.3394G>A (p.Gly1132Ser) n.353G>A | |
12 | g.51769324G>C | CA384893958 | SCN8A | c.3361G>C (p.Gly1121Arg) c.1208G>C c.1425G>C c.3394G>C (p.Gly1132Arg) n.353G>C | |
12 | g.51769324G>T | CA384893959 | SCN8A | c.3361G>T (p.Gly1121Cys) c.1208G>T c.1425G>T c.3394G>T (p.Gly1132Cys) n.353G>T | |
12 | g.51769325G>A | CA384893962 | SCN8A | c.3362G>A (p.Gly1121Asp) c.1209G>A c.1426G>A c.3395G>A (p.Gly1132Asp) n.354G>A | |
12 | g.51769325G>C | CA384893982 | SCN8A | c.3362G>C (p.Gly1121Ala) c.1209G>C c.1426G>C c.3395G>C (p.Gly1132Ala) n.354G>C | |
12 | g.51769325G>T | CA384893985 | SCN8A | c.3362G>T (p.Gly1121Val) c.1209G>T c.1426G>T c.3395G>T (p.Gly1132Val) n.354G>T | |
12 | g.51769326C>A | CA480061510 | SCN8A | c.3363C>A (p.Gly1121=) c.1210C>A c.1427C>A c.3396C>A (p.Gly1132=) n.355C>A | gnomAD v4 |
12 | g.51769326C>G | CA480061508 | SCN8A | c.3363C>G (p.Gly1121=) c.1210C>G c.1427C>G c.3396C>G (p.Gly1132=) n.355C>G | |
12 | g.51769326C>T | CA480061509 | SCN8A | c.3363C>T (p.Gly1121=) c.1210C>T c.1427C>T c.3396C>T (p.Gly1132=) n.355C>T | gnomAD v4 |
12 | g.51769327A= | CA2036188718 | SCN8A | c.3364A= (p.Ser1122=) c.1211A= c.1428A= c.3397A= (p.Ser1133=) n.356A= | |
12 | g.51769327A>C | CA384893989 | SCN8A | c.3364A>C (p.Ser1122Arg) c.1211A>C c.1428A>C c.3397A>C (p.Ser1133Arg) n.356A>C | |
12 | g.51769327A>G | CA384893991 | SCN8A | c.3364A>G (p.Ser1122Gly) c.1211A>G c.1428A>G c.3397A>G (p.Ser1133Gly) n.356A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.51769327A>T | CA6571582 | SCN8A | c.3364A>T (p.Ser1122Cys) c.1211A>T c.1428A>T c.3397A>T (p.Ser1133Cys) n.356A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51769328G>A | CA384894000 | SCN8A | c.3365G>A (p.Ser1122Asn) c.1212G>A c.1429G>A c.3398G>A (p.Ser1133Asn) n.357G>A | gnomAD v4 |
12 | g.51769328G>C | CA384894005 | SCN8A | c.3365G>C (p.Ser1122Thr) c.1212G>C c.1429G>C c.3398G>C (p.Ser1133Thr) n.357G>C | |
12 | g.51769328G>T | CA384893998 | SCN8A | c.3365G>T (p.Ser1122Ile) c.1212G>T c.1429G>T c.3398G>T (p.Ser1133Ile) n.357G>T | |
12 | g.51769329C>A | CA384894016 | SCN8A | c.3366C>A (p.Ser1122Arg) c.1213C>A c.1430C>A c.3399C>A (p.Ser1133Arg) n.358C>A | |
12 | g.51769329C= | CA2036188725 | SCN8A | c.3366C= (p.Ser1122=) c.1213C= c.1430C= c.3399C= (p.Ser1133=) n.358C= | |
12 | g.51769329C>G | CA384894008 | SCN8A | c.3366C>G (p.Ser1122Arg) c.1213C>G c.1430C>G c.3399C>G (p.Ser1133Arg) n.358C>G | |
12 | g.51769329C>T | CA6571583 | SCN8A | c.3366C>T (p.Ser1122=) c.1213C>T c.1430C>T c.3399C>T (p.Ser1133=) n.358C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51769330A= | CA2036188728 | SCN8A | c.3367A= (p.Lys1123=) c.1214A= c.1431A= c.3400A= (p.Lys1134=) n.359A= | |
12 | g.51769330A>C | CA384894017 | SCN8A | c.3367A>C (p.Lys1123Gln) c.1214A>C c.1431A>C c.3400A>C (p.Lys1134Gln) n.359A>C | ClinVar dbSNP |
12 | g.51769330A>G | CA384894018 | SCN8A | c.3367A>G (p.Lys1123Glu) c.1214A>G c.1431A>G c.3400A>G (p.Lys1134Glu) n.359A>G | gnomAD v4 |
12 | g.51769330A>T | CA384894019 | SCN8A | c.3367A>T (p.Lys1123Ter) c.1214A>T c.1431A>T c.3400A>T (p.Lys1134Ter) n.359A>T | dbSNP |
12 | g.51769331A= | CA2036188734 | SCN8A | c.3368A= (p.Lys1123=) c.1215A= c.1432A= c.3401A= (p.Lys1134=) n.360A= | |
12 | g.51769331A>C | CA384894021 | SCN8A | c.3368A>C (p.Lys1123Thr) c.1215A>C c.1432A>C c.3401A>C (p.Lys1134Thr) n.360A>C | |
12 | g.51769331A>G | CA384894023 | SCN8A | c.3368A>G (p.Lys1123Arg) c.1215A>G c.1432A>G c.3401A>G (p.Lys1134Arg) n.360A>G | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51769331A>T | CA384894025 | SCN8A | c.3368A>T (p.Lys1123Ile) c.1215A>T c.1432A>T c.3401A>T (p.Lys1134Ile) n.360A>T | |
12 | g.51769332A>C | CA384894032 | SCN8A | c.3369A>C (p.Lys1123Asn) c.1216A>C c.1433A>C c.3402A>C (p.Lys1134Asn) n.361A>C | |
12 | g.51769332A>G | CA480061205 | SCN8A | c.3369A>G (p.Lys1123=) c.1216A>G c.1433A>G c.3402A>G (p.Lys1134=) n.361A>G | gnomAD v4 |
12 | g.51769332A>T | CA384894034 | SCN8A | c.3369A>T (p.Lys1123Asn) c.1216A>T c.1433A>T c.3402A>T (p.Lys1134Asn) n.361A>T | gnomAD v4 |
12 | g.51769333G>A | CA384894038 | SCN8A | c.3370G>A (p.Asp1124Asn) c.1217G>A c.1434G>A c.3403G>A (p.Asp1135Asn) n.362G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.51769333G>C | CA384894043 | SCN8A | c.3370G>C (p.Asp1124His) c.1217G>C c.1434G>C c.3403G>C (p.Asp1135His) n.362G>C | |
12 | g.51769333G= | CA2036188739 | SCN8A | c.3370G= (p.Asp1124=) c.1217G= c.1434G= c.3403G= (p.Asp1135=) n.362G= | |
12 | g.51769333G>T | CA384894046 | SCN8A | c.3370G>T (p.Asp1124Tyr) c.1217G>T c.1434G>T c.3403G>T (p.Asp1135Tyr) n.362G>T | |
12 | g.51769334A>C | CA384894054 | SCN8A | c.3371A>C (p.Asp1124Ala) c.1218A>C c.1435A>C c.3404A>C (p.Asp1135Ala) n.363A>C | |
12 | g.51769334A>G | CA384894062 | SCN8A | c.3371A>G (p.Asp1124Gly) c.1218A>G c.1435A>G c.3404A>G (p.Asp1135Gly) n.363A>G | |
12 | g.51769334A>T | CA384894051 | SCN8A | c.3371A>T (p.Asp1124Val) c.1218A>T c.1435A>T c.3404A>T (p.Asp1135Val) n.363A>T | |
12 | g.51769335T>A | CA384894065 | SCN8A | c.3372T>A (p.Asp1124Glu) c.1219T>A c.1436T>A c.3405T>A (p.Asp1135Glu) n.364T>A | |
12 | g.51769335T>C | CA480061206 | SCN8A | c.3372T>C (p.Asp1124=) c.1219T>C c.1436T>C c.3405T>C (p.Asp1135=) n.364T>C | |
12 | g.51769335T>G | CA6571584 | SCN8A | c.3372T>G (p.Asp1124Glu) c.1219T>G c.1436T>G c.3405T>G (p.Asp1135Glu) n.364T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51769335T= | CA2036188742 | SCN8A | c.3372T= (p.Asp1124=) c.1219T= c.1436T= c.3405T= (p.Asp1135=) n.364T= | |
12 | g.51769336G>A | CA384894077 | SCN8A | c.3372+1G>A (n.3372+1G>A) c.1219+1G>A c.1436+1G>A c.3405+1G>A (n.3405+1G>A) n.364+1G>A | |
12 | g.51769336G>C | CA384894081 | SCN8A | c.3372+1G>C (n.3372+1G>C) c.1219+1G>C c.1436+1G>C c.3405+1G>C (n.3405+1G>C) n.364+1G>C | |
12 | g.51769336G>T | CA384894084 | SCN8A | c.3372+1G>T (n.3372+1G>T) c.1219+1G>T c.1436+1G>T c.3405+1G>T (n.3405+1G>T) n.364+1G>T | |
12 | g.51769337T>A | CA384894091 | SCN8A | c.3372+2T>A (n.3372+2T>A) c.1219+2T>A c.1436+2T>A c.3405+2T>A (n.3405+2T>A) n.364+2T>A | |
12 | g.51769337T>C | CA384894087 | SCN8A | c.3372+2T>C (n.3372+2T>C) c.1219+2T>C c.1436+2T>C c.3405+2T>C (n.3405+2T>C) n.364+2T>C | |
12 | g.51769337T>G | CA384894090 | SCN8A | c.3372+2T>G (n.3372+2T>G) c.1219+2T>G c.1436+2T>G c.3405+2T>G (n.3405+2T>G) n.364+2T>G | |
12 | g.51769339A>G | CA2618840787 | SCN8A | c.3372+4A>G (n.3372+4A>G) c.1219+4A>G c.1436+4A>G c.3405+4A>G (n.3405+4A>G) n.364+4A>G | gnomAD v4 |
12 | g.51769341G>C | CA2844624892 | SCN8A | c.3372+6G>C (n.3372+6G>C) c.1219+6G>C c.1436+6G>C c.3405+6G>C (n.3405+6G>C) n.364+6G>C | |
12 | g.51769341G= | CA2036188746 | SCN8A | c.3372+6G= (n.3372+6G=) c.1219+6G= c.1436+6G= c.3405+6G= (n.3405+6G=) n.364+6G= | |
12 | g.51769341G>T | CA2036188747 | SCN8A | c.3372+6G>T (n.3372+6G>T) c.1219+6G>T c.1436+6G>T c.3405+6G>T (n.3405+6G>T) n.364+6G>T | ClinVar dbSNP gnomAD v4 |
12 | g.51769342T>C | CA2575160199 | SCN8A | c.3372+7T>C (n.3372+7T>C) c.1219+7T>C c.1436+7T>C c.3405+7T>C (n.3405+7T>C) n.364+7T>C | |
12 | g.51769343C>G | CA2618840788 | SCN8A | c.3372+8C>G (n.3372+8C>G) c.1219+8C>G c.1436+8C>G c.3405+8C>G (n.3405+8C>G) n.364+8C>G | gnomAD v4 |
12 | g.51769345del | CA2575160200 | SCN8A | c.3372+10del (n.3372+10del) c.1219+10del c.1436+10del c.3405+10del (n.3405+10del) n.364+10del | |
12 | g.51769344C>A | CA2575160201 | SCN8A | c.3372+9C>A (n.3372+9C>A) c.1219+9C>A c.1436+9C>A c.3405+9C>A (n.3405+9C>A) n.364+9C>A | gnomAD v4 |
12 | g.51769345C>A | CA2575160202 | SCN8A | c.3372+10C>A (n.3372+10C>A) c.1219+10C>A c.1436+10C>A c.3405+10C>A (n.3405+10C>A) n.364+10C>A | gnomAD v4 |
12 | g.51769347G>A | CA605238552 | SCN8A | c.3372+12G>A (n.3372+12G>A) c.1219+12G>A c.1436+12G>A c.3405+12G>A (n.3405+12G>A) n.364+12G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51769347G= | CA2036188751 | SCN8A | c.3372+12G= (n.3372+12G=) c.1219+12G= c.1436+12G= c.3405+12G= (n.3405+12G=) n.364+12G= | |
12 | g.51769347G>T | CA2618840791 | SCN8A | c.3372+12G>T (n.3372+12G>T) c.1219+12G>T c.1436+12G>T c.3405+12G>T (n.3405+12G>T) n.364+12G>T | gnomAD v4 |
12 | g.51769348C= | CA2036188754 | SCN8A | c.3372+13C= (n.3372+13C=) c.1219+13C= c.1436+13C= c.3405+13C= (n.3405+13C=) n.364+13C= | |
12 | g.51769348C>G | CA236318738 | SCN8A | c.3372+13C>G (n.3372+13C>G) c.1219+13C>G c.1436+13C>G c.3405+13C>G (n.3405+13C>G) n.364+13C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.51769348C>T | CA236318736 | SCN8A | c.3372+13C>T (n.3372+13C>T) c.1219+13C>T c.1436+13C>T c.3405+13C>T (n.3405+13C>T) n.364+13C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.51769349C>A | CA2618840800 | SCN8A | c.3372+14C>A (n.3372+14C>A) c.1219+14C>A c.1436+14C>A c.3405+14C>A (n.3405+14C>A) n.364+14C>A | gnomAD v4 |
12 | g.51769351A= | CA2036188762 | SCN8A | c.3372+16A= (n.3372+16A=) c.1219+16A= c.1436+16A= c.3405+16A= (n.3405+16A=) n.364+16A= | |
12 | g.51769351A>G | CA6571585 | SCN8A | c.3372+16A>G (n.3372+16A>G) c.1219+16A>G c.1436+16A>G c.3405+16A>G (n.3405+16A>G) n.364+16A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51769352G>A | CA605238553 | SCN8A | c.3372+17G>A (n.3372+17G>A) c.1219+17G>A c.1436+17G>A c.3405+17G>A (n.3405+17G>A) n.364+17G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51769352G>C | CA2618840804 | SCN8A | c.3372+17G>C (n.3372+17G>C) c.1219+17G>C c.1436+17G>C c.3405+17G>C (n.3405+17G>C) n.364+17G>C | gnomAD v4 |
12 | g.51769352G= | CA2036188766 | SCN8A | c.3372+17G= (n.3372+17G=) c.1219+17G= c.1436+17G= c.3405+17G= (n.3405+17G=) n.364+17G= | |
12 | g.51769356C>A | CA2618840809 | SCN8A | c.3372+21C>A (n.3372+21C>A) c.1219+21C>A c.1436+21C>A c.3405+21C>A (n.3405+21C>A) n.364+21C>A | gnomAD v4 |
12 | g.51769356C= | CA2036188769 | SCN8A | c.3372+21C= (n.3372+21C=) c.1219+21C= c.1436+21C= c.3405+21C= (n.3405+21C=) n.364+21C= | |
12 | g.51769356C>T | CA947682204 | SCN8A | c.3372+21C>T (n.3372+21C>T) c.1219+21C>T c.1436+21C>T c.3405+21C>T (n.3405+21C>T) n.364+21C>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51769357A>G | CA2618840814 | SCN8A | c.3372+22A>G (n.3372+22A>G) c.1219+22A>G c.1436+22A>G c.3405+22A>G (n.3405+22A>G) n.364+22A>G | gnomAD v4 |
12 | g.51769358G>A | CA2618840816 | SCN8A | c.3372+23G>A (n.3372+23G>A) c.1219+23G>A c.1436+23G>A c.3405+23G>A (n.3405+23G>A) n.364+23G>A | gnomAD v4 |
12 | g.51769358G>T | CA2618840817 | SCN8A | c.3372+23G>T (n.3372+23G>T) c.1219+23G>T c.1436+23G>T c.3405+23G>T (n.3405+23G>T) n.364+23G>T | gnomAD v4 |
12 | g.51769359C>A | CA2618840824 | SCN8A | c.3372+24C>A (n.3372+24C>A) c.1219+24C>A c.1436+24C>A c.3405+24C>A (n.3405+24C>A) n.364+24C>A | gnomAD v4 |
12 | g.51769359C= | CA2036188771 | SCN8A | c.3372+24C= (n.3372+24C=) c.1219+24C= c.1436+24C= c.3405+24C= (n.3405+24C=) n.364+24C= | |
12 | g.51769359C>T | CA6571586 | SCN8A | c.3372+24C>T (n.3372+24C>T) c.1219+24C>T c.1436+24C>T c.3405+24C>T (n.3405+24C>T) n.364+24C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51769360C>A | CA2618840831 | SCN8A | c.3372+25C>A (n.3372+25C>A) c.1219+25C>A c.1436+25C>A c.3405+25C>A (n.3405+25C>A) n.364+25C>A | gnomAD v4 |
12 | g.51769360C= | CA2036188775 | SCN8A | c.3372+25C= (n.3372+25C=) c.1219+25C= c.1436+25C= c.3405+25C= (n.3405+25C=) n.364+25C= | |
12 | g.51769360C>G | CA6571587 | SCN8A | c.3372+25C>G (n.3372+25C>G) c.1219+25C>G c.1436+25C>G c.3405+25C>G (n.3405+25C>G) n.364+25C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51769361T>C | CA6571588 | SCN8A | c.3372+26T>C (n.3372+26T>C) c.1219+26T>C c.1436+26T>C c.3405+26T>C (n.3405+26T>C) n.364+26T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51769361T= | CA2036188779 | SCN8A | c.3372+26T= (n.3372+26T=) c.1219+26T= c.1436+26T= c.3405+26T= (n.3405+26T=) n.364+26T= | |
12 | g.51769363del | CA2618840835 | SCN8A | c.3372+28del (n.3372+28del) c.1219+28del c.1436+28del c.3405+28del (n.3405+28del) n.364+28del | gnomAD v4 |
12 | g.51769364A= | CA2036188783 | SCN8A | c.3372+29A= (n.3372+29A=) c.1219+29A= c.1436+29A= c.3405+29A= (n.3405+29A=) n.364+29A= | |
12 | g.51769364A>G | CA605238554 | SCN8A | c.3372+29A>G (n.3372+29A>G) c.1219+29A>G c.1436+29A>G c.3405+29A>G (n.3405+29A>G) n.364+29A>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51769365T>A | CA605238555 | SCN8A | c.3372+30T>A (n.3372+30T>A) c.1219+30T>A c.1436+30T>A c.3405+30T>A (n.3405+30T>A) n.364+30T>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51769365T= | CA2036188787 | SCN8A | c.3372+30T= (n.3372+30T=) c.1219+30T= c.1436+30T= c.3405+30T= (n.3405+30T=) n.364+30T= | |
12 | g.51769366C>A | CA2575160203 | SCN8A | c.3372+31C>A (n.3372+31C>A) c.1219+31C>A c.1436+31C>A c.3405+31C>A (n.3405+31C>A) n.364+31C>A | gnomAD v4 |
12 | g.51769367C>A | CA2618840842 | SCN8A | c.3372+32C>A (n.3372+32C>A) c.1219+32C>A c.1436+32C>A c.3405+32C>A (n.3405+32C>A) n.364+32C>A | gnomAD v4 |
12 | g.51769367C>T | CA2575160204 | SCN8A | c.3372+32C>T (n.3372+32C>T) c.1219+32C>T c.1436+32C>T c.3405+32C>T (n.3405+32C>T) n.364+32C>T | |
12 | g.51769368T>C | CA689783212 | SCN8A | c.3372+33T>C (n.3372+33T>C) c.1219+33T>C c.1436+33T>C c.3405+33T>C (n.3405+33T>C) n.364+33T>C | dbSNP gnomAD v4 |
12 | g.51769368T= | CA2036188789 | SCN8A | c.3372+33T= (n.3372+33T=) c.1219+33T= c.1436+33T= c.3405+33T= (n.3405+33T=) n.364+33T= | |
12 | g.51769372_51769373del | CA2575160205 | SCN8A | c.3372+37_3372+38del (n.3372+37_3372+38del) c.1219+37_1219+38del c.1436+37_1436+38del c.3405+37_3405+38del (n.3405+37_3405+38del) n.364+37_364+38del | |
12 | g.51769369G>A | CA6571589 | SCN8A | c.3372+34G>A (n.3372+34G>A) c.1219+34G>A c.1436+34G>A c.3405+34G>A (n.3405+34G>A) n.364+34G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51769369G= | CA2036188792 | SCN8A | c.3372+34G= (n.3372+34G=) c.1219+34G= c.1436+34G= c.3405+34G= (n.3405+34G=) n.364+34G= | |
12 | g.51769370T>C | CA2726341399 | SCN8A | c.3372+35T>C (n.3372+35T>C) c.1219+35T>C c.1436+35T>C c.3405+35T>C (n.3405+35T>C) n.364+35T>C | dbSNP |
12 | g.51769371G>A | CA2618840863 | SCN8A | c.3372+36G>A (n.3372+36G>A) c.1219+36G>A c.1436+36G>A c.3405+36G>A (n.3405+36G>A) n.364+36G>A | gnomAD v4 |
12 | g.51769371G>T | CA2618840864 | SCN8A | c.3372+36G>T (n.3372+36G>T) c.1219+36G>T c.1436+36G>T c.3405+36G>T (n.3405+36G>T) n.364+36G>T | gnomAD v4 |
12 | g.51769373G>A | CA605238556 | SCN8A | c.3372+38G>A (n.3372+38G>A) c.1219+38G>A c.1436+38G>A c.3405+38G>A (n.3405+38G>A) n.364+38G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51769373G= | CA2036188795 | SCN8A | c.3372+38G= (n.3372+38G=) c.1219+38G= c.1436+38G= c.3405+38G= (n.3405+38G=) n.364+38G= | |
12 | g.51769374_51769377del | CA2618840869 | SCN8A | c.3372+39_3372+42del (n.3372+39_3372+42del) c.1219+39_1219+42del c.1436+39_1436+42del c.3405+39_3405+42del (n.3405+39_3405+42del) n.364+39_364+42del | gnomAD v4 |
12 | g.51769373_51769374insCTCTC | CA2618840874 | SCN8A | c.3372+38_3372+39insCTCTC (n.3372+38_3372+39insCTCTC) c.1219+38_1219+39insCTCTC c.1436+38_1436+39insCTCTC c.3405+38_3405+39insCTCTC (n.3405+38_3405+39insCTCTC) n.364+38_364+39insCTCTC | gnomAD v4 |
12 | g.51769374A>G | CA2618840876 | SCN8A | c.3372+39A>G (n.3372+39A>G) c.1219+39A>G c.1436+39A>G c.3405+39A>G (n.3405+39A>G) n.364+39A>G | gnomAD v4 |
12 | g.51769374_51769375insCACAG | CA2618840885 | SCN8A | c.3372+39_3372+40insCACAG (n.3372+39_3372+40insCACAG) c.1219+39_1219+40insCACAG c.1436+39_1436+40insCACAG c.3405+39_3405+40insCACAG (n.3405+39_3405+40insCACAG) n.364+39_364+40insCACAG | gnomAD v4 |
12 | g.51769375G>A | CA2575160206 | SCN8A | c.3372+40G>A (n.3372+40G>A) c.1219+40G>A c.1436+40G>A c.3405+40G>A (n.3405+40G>A) n.364+40G>A | |
12 | g.51769375G>C | CA2618840879 | SCN8A | c.3372+40G>C (n.3372+40G>C) c.1219+40G>C c.1436+40G>C c.3405+40G>C (n.3405+40G>C) n.364+40G>C | gnomAD v4 |
12 | g.51769375G>T | CA2618840881 | SCN8A | c.3372+40G>T (n.3372+40G>T) c.1219+40G>T c.1436+40G>T c.3405+40G>T (n.3405+40G>T) n.364+40G>T | gnomAD v4 |
12 | g.51769376A= | CA2036188798 | SCN8A | c.3372+41A= (n.3372+41A=) c.1219+41A= c.1436+41A= c.3405+41A= (n.3405+41A=) n.364+41A= | |
12 | g.51769376A>G | CA6571590 | SCN8A | c.3372+41A>G (n.3372+41A>G) c.1219+41A>G c.1436+41A>G c.3405+41A>G (n.3405+41A>G) n.364+41A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51769377G>A | CA2575160207 | SCN8A | c.3372+42G>A (n.3372+42G>A) c.1219+42G>A c.1436+42G>A c.3405+42G>A (n.3405+42G>A) n.364+42G>A | gnomAD v4 |
12 | g.51769377G>T | CA2618840890 | SCN8A | c.3372+42G>T (n.3372+42G>T) c.1219+42G>T c.1436+42G>T c.3405+42G>T (n.3405+42G>T) n.364+42G>T | gnomAD v4 |
12 | g.51769378C>A | CA2575160208 | SCN8A | c.3372+43C>A (n.3372+43C>A) c.1219+43C>A c.1436+43C>A c.3405+43C>A (n.3405+43C>A) n.364+43C>A | gnomAD v4 |
12 | g.51769378_51769379insTCTC | CA2618840893 | SCN8A | c.3372+43_3372+44insTCTC (n.3372+43_3372+44insTCTC) c.1219+43_1219+44insTCTC c.1436+43_1436+44insTCTC c.3405+43_3405+44insTCTC (n.3405+43_3405+44insTCTC) n.364+43_364+44insTCTC | gnomAD v4 |
12 | g.51769379A>C | CA2618840897 | SCN8A | c.3372+44A>C (n.3372+44A>C) c.1219+44A>C c.1436+44A>C c.3405+44A>C (n.3405+44A>C) n.364+44A>C | gnomAD v4 |
12 | g.51769379A>G | CA2618840901 | SCN8A | c.3372+44A>G (n.3372+44A>G) c.1219+44A>G c.1436+44A>G c.3405+44A>G (n.3405+44A>G) n.364+44A>G | gnomAD v4 |
12 | g.51769380A>C | CA2618840904 | SCN8A | c.3372+45A>C (n.3372+45A>C) c.1219+45A>C c.1436+45A>C c.3405+45A>C (n.3405+45A>C) n.364+45A>C | gnomAD v4 |
12 | g.51769382C>A | CA2618840907 | SCN8A | c.3372+47C>A (n.3372+47C>A) c.1219+47C>A c.1436+47C>A c.3405+47C>A (n.3405+47C>A) n.364+47C>A | gnomAD v4 |
12 | g.51769382C= | CA2036188804 | SCN8A | c.3372+47C= (n.3372+47C=) c.1219+47C= c.1436+47C= c.3405+47C= (n.3405+47C=) n.364+47C= | |
12 | g.51769382C>G | CA6571591 | SCN8A | c.3372+47C>G (n.3372+47C>G) c.1219+47C>G c.1436+47C>G c.3405+47C>G (n.3405+47C>G) n.364+47C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51769382C>T | CA605238557 | SCN8A | c.3372+47C>T (n.3372+47C>T) c.1219+47C>T c.1436+47C>T c.3405+47C>T (n.3405+47C>T) n.364+47C>T | gnomAD v2 gnomAD v4 |
12 | g.51769382_51769384delinsCAG | CA2036188809 | SCN8A | c.3372+47_3372+49delinsCAG (n.3372+47_3372+49delinsCAG) c.1219+47_1219+49delinsCAG c.1436+47_1436+49delinsCAG c.3405+47_3405+49delinsCAG (n.3405+47_3405+49delinsCAG) n.364+47_364+49delinsCAG | |
12 | g.51769383A>G | CA2618840912 | SCN8A | c.3372+48A>G (n.3372+48A>G) c.1219+48A>G c.1436+48A>G c.3405+48A>G (n.3405+48A>G) n.364+48A>G | gnomAD v4 |
12 | g.51769383_51769384del | CA605238558 | SCN8A | c.3372+48_3372+49del (n.3372+48_3372+49del) c.1219+48_1219+49del c.1436+48_1436+49del c.3405+48_3405+49del (n.3405+48_3405+49del) n.364+48_364+49del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51769384G>A | CA2618840915 | SCN8A | c.3372+49G>A (n.3372+49G>A) c.1219+49G>A c.1436+49G>A c.3405+49G>A (n.3405+49G>A) n.364+49G>A | gnomAD v4 |
12 | g.51769385G>T | CA2618840918 | SCN8A | c.3372+50G>T (n.3372+50G>T) c.1219+50G>T c.1436+50G>T c.3405+50G>T (n.3405+50G>T) n.364+50G>T | gnomAD v4 |