| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51782158_51786734del | CA2580086413 | SCN8A | c.3942+1387_4135del c.1736+1887_1929del c.2006+1387_2199del c.3820-4384_4012del n.193+1887_386del c.3975+1387_4168del c.*40+1887_*233del | ClinVar |
| 12 | g.51786590C>A | CA384904648 | SCN8A | c.3991C>A (p.Leu1331Met) c.1785C>A c.2055C>A c.3868C>A (p.Leu1290Met) n.242C>A c.4024C>A (p.Leu1342Met) c.*89C>A (n.*89C>A) | |
| 12 | g.51786590C= | CA2036202786 | SCN8A | c.3991C= (p.Leu1331=) c.1785C= c.2055C= c.3868C= (p.Leu1290=) n.242C= c.4024C= (p.Leu1342=) c.*89C= (n.*89C=) | |
| 12 | g.51786590C>G | CA144634 | SCN8A | c.3991C>G (p.Leu1331Val) c.1785C>G c.2055C>G c.3868C>G (p.Leu1290Val) n.242C>G c.4024C>G (p.Leu1342Val) c.*89C>G (n.*89C>G) | ClinVar dbSNP |
| 12 | g.51786590C>T | CA480061535 | SCN8A | c.3991C>T (p.Leu1331=) c.1785C>T c.2055C>T c.3868C>T (p.Leu1290=) n.242C>T c.4024C>T (p.Leu1342=) c.*89C>T (n.*89C>T) | |
| 12 | g.51786591T>A | CA384904657 | SCN8A | c.3992T>A (p.Leu1331Gln) c.1786T>A c.2056T>A c.3869T>A (p.Leu1290Gln) n.243T>A c.4025T>A (p.Leu1342Gln) c.*90T>A (n.*90T>A) | |
| 12 | g.51786591T>C | CA384904660 | SCN8A | c.3992T>C (p.Leu1331Pro) c.1786T>C c.2056T>C c.3869T>C (p.Leu1290Pro) n.243T>C c.4025T>C (p.Leu1342Pro) c.*90T>C (n.*90T>C) | |
| 12 | g.51786591T>G | CA384904654 | SCN8A | c.3992T>G (p.Leu1331Arg) c.1786T>G c.2056T>G c.3869T>G (p.Leu1290Arg) n.243T>G c.4025T>G (p.Leu1342Arg) c.*90T>G (n.*90T>G) | |
| 12 | g.51786592G>A | CA480061537 | SCN8A | c.3993G>A (p.Leu1331=) c.1787G>A c.2057G>A c.3870G>A (p.Leu1290=) n.244G>A c.4026G>A (p.Leu1342=) c.*91G>A (n.*91G>A) | gnomAD v4 |
| 12 | g.51786592G>C | CA480061538 | SCN8A | c.3993G>C (p.Leu1331=) c.1787G>C c.2057G>C c.3870G>C (p.Leu1290=) n.244G>C c.4026G>C (p.Leu1342=) c.*91G>C (n.*91G>C) | |
| 12 | g.51786592G>T | CA480061539 | SCN8A | c.3993G>T (p.Leu1331=) c.1787G>T c.2057G>T c.3870G>T (p.Leu1290=) n.244G>T c.4026G>T (p.Leu1342=) c.*91G>T (n.*91G>T) | |
| 12 | g.51786593C>A | CA384904665 | SCN8A | c.3994C>A (p.Leu1332Met) c.1788C>A c.2058C>A c.3871C>A (p.Leu1291Met) n.245C>A c.4027C>A (p.Leu1343Met) c.*92C>A (n.*92C>A) | |
| 12 | g.51786593C>G | CA384904663 | SCN8A | c.3994C>G (p.Leu1332Val) c.1788C>G c.2058C>G c.3871C>G (p.Leu1291Val) n.245C>G c.4027C>G (p.Leu1343Val) c.*92C>G (n.*92C>G) | |
| 12 | g.51786593C>T | CA480061541 | SCN8A | c.3994C>T (p.Leu1332=) c.1788C>T c.2058C>T c.3871C>T (p.Leu1291=) n.245C>T c.4027C>T (p.Leu1343=) c.*92C>T (n.*92C>T) | |
| 12 | g.51786594T>A | CA384904670 | SCN8A | c.3995T>A (p.Leu1332Gln) c.1789T>A c.2059T>A c.3872T>A (p.Leu1291Gln) n.246T>A c.4028T>A (p.Leu1343Gln) c.*93T>A (n.*93T>A) | |
| 12 | g.51786594T>C | CA384904672 | SCN8A | c.3995T>C (p.Leu1332Pro) c.1789T>C c.2059T>C c.3872T>C (p.Leu1291Pro) n.246T>C c.4028T>C (p.Leu1343Pro) c.*93T>C (n.*93T>C) | ClinVar dbSNP |
| 12 | g.51786594T>G | CA384904676 | SCN8A | c.3995T>G (p.Leu1332Arg) c.1789T>G c.2059T>G c.3872T>G (p.Leu1291Arg) n.246T>G c.4028T>G (p.Leu1343Arg) c.*93T>G (n.*93T>G) | |
| 12 | g.51786595G>A | CA480061545 | SCN8A | c.3996G>A (p.Leu1332=) c.1790G>A c.2060G>A c.3873G>A (p.Leu1291=) n.247G>A c.4029G>A (p.Leu1343=) c.*94G>A (n.*94G>A) | gnomAD v4 |
| 12 | g.51786595G>C | CA480061543 | SCN8A | c.3996G>C (p.Leu1332=) c.1790G>C c.2060G>C c.3873G>C (p.Leu1291=) n.247G>C c.4029G>C (p.Leu1343=) c.*94G>C (n.*94G>C) | ClinVar dbSNP |
| 12 | g.51786595G>T | CA480061544 | SCN8A | c.3996G>T (p.Leu1332=) c.1790G>T c.2060G>T c.3873G>T (p.Leu1291=) n.247G>T c.4029G>T (p.Leu1343=) c.*94G>T (n.*94G>T) | |
| 12 | g.51786596G>A | CA384904677 | SCN8A | c.3997G>A (p.Val1333Met) c.1791G>A c.2061G>A c.3874G>A (p.Val1292Met) n.248G>A c.4030G>A (p.Val1344Met) c.*95G>A (n.*95G>A) | |
| 12 | g.51786596G>C | CA384904678 | SCN8A | c.3997G>C (p.Val1333Leu) c.1791G>C c.2061G>C c.3874G>C (p.Val1292Leu) n.248G>C c.4030G>C (p.Val1344Leu) c.*95G>C (n.*95G>C) | |
| 12 | g.51786596G>T | CA384904681 | SCN8A | c.3997G>T (p.Val1333Leu) c.1791G>T c.2061G>T c.3874G>T (p.Val1292Leu) n.248G>T c.4030G>T (p.Val1344Leu) c.*95G>T (n.*95G>T) | |
| 12 | g.51786597T>A | CA384904693 | SCN8A | c.3998T>A (p.Val1333Glu) c.1792T>A c.2062T>A c.3875T>A (p.Val1292Glu) n.249T>A c.4031T>A (p.Val1344Glu) c.*96T>A (n.*96T>A) | |
| 12 | g.51786597T>C | CA384904700 | SCN8A | c.3998T>C (p.Val1333Ala) c.1792T>C c.2062T>C c.3875T>C (p.Val1292Ala) n.249T>C c.4031T>C (p.Val1344Ala) c.*96T>C (n.*96T>C) | |
| 12 | g.51786597T>G | CA384904696 | SCN8A | c.3998T>G (p.Val1333Gly) c.1792T>G c.2062T>G c.3875T>G (p.Val1292Gly) n.249T>G c.4031T>G (p.Val1344Gly) c.*96T>G (n.*96T>G) | |
| 12 | g.51786598G>A | CA318239 | SCN8A | c.3999G>A (p.Val1333=) c.1793G>A c.2063G>A c.3876G>A (p.Val1292=) n.250G>A c.4032G>A (p.Val1344=) c.*97G>A (n.*97G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.51786598G>C | CA480061549 | SCN8A | c.3999G>C (p.Val1333=) c.1793G>C c.2063G>C c.3876G>C (p.Val1292=) n.250G>C c.4032G>C (p.Val1344=) c.*97G>C (n.*97G>C) | COSMIC COSMIC |
| 12 | g.51786598G= | CA2036202787 | SCN8A | c.3999G= (p.Val1333=) c.1793G= c.2063G= c.3876G= (p.Val1292=) n.250G= c.4032G= (p.Val1344=) c.*97G= (n.*97G=) | |
| 12 | g.51786598G>T | CA480061550 | SCN8A | c.3999G>T (p.Val1333=) c.1793G>T c.2063G>T c.3876G>T (p.Val1292=) n.250G>T c.4032G>T (p.Val1344=) c.*97G>T (n.*97G>T) | |
| 12 | g.51786599T>A | CA384904717 | SCN8A | c.4000T>A (p.Cys1334Ser) c.1794T>A c.2064T>A c.3877T>A (p.Cys1293Ser) n.251T>A c.4033T>A (p.Cys1345Ser) c.*98T>A (n.*98T>A) | |
| 12 | g.51786599T>C | CA384904720 | SCN8A | c.4000T>C (p.Cys1334Arg) c.1794T>C c.2064T>C c.3877T>C (p.Cys1293Arg) n.251T>C c.4033T>C (p.Cys1345Arg) c.*98T>C (n.*98T>C) | ClinVar dbSNP |
| 12 | g.51786599T>G | CA384904723 | SCN8A | c.4000T>G (p.Cys1334Gly) c.1794T>G c.2064T>G c.3877T>G (p.Cys1293Gly) n.251T>G c.4033T>G (p.Cys1345Gly) c.*98T>G (n.*98T>G) | |
| 12 | g.51786600G>A | CA384904727 | SCN8A | c.4001G>A (p.Cys1334Tyr) c.1795G>A c.2065G>A c.3878G>A (p.Cys1293Tyr) n.252G>A c.4034G>A (p.Cys1345Tyr) c.*99G>A (n.*99G>A) | |
| 12 | g.51786600G>C | CA384904735 | SCN8A | c.4001G>C (p.Cys1334Ser) c.1795G>C c.2065G>C c.3878G>C (p.Cys1293Ser) n.252G>C c.4034G>C (p.Cys1345Ser) c.*99G>C (n.*99G>C) | |
| 12 | g.51786600G>T | CA384904731 | SCN8A | c.4001G>T (p.Cys1334Phe) c.1795G>T c.2065G>T c.3878G>T (p.Cys1293Phe) n.252G>T c.4034G>T (p.Cys1345Phe) c.*99G>T (n.*99G>T) | |
| 12 | g.51786601T>A | CA384904737 | SCN8A | c.4002T>A (p.Cys1334Ter) c.1796T>A c.2066T>A c.3879T>A (p.Cys1293Ter) n.253T>A c.4035T>A (p.Cys1345Ter) c.*100T>A (n.*100T>A) | dbSNP |
| 12 | g.51786601T>C | CA480061554 | SCN8A | c.4002T>C (p.Cys1334=) c.1796T>C c.2066T>C c.3879T>C (p.Cys1293=) n.253T>C c.4035T>C (p.Cys1345=) c.*100T>C (n.*100T>C) | |
| 12 | g.51786601T>G | CA384904738 | SCN8A | c.4002T>G (p.Cys1334Trp) c.1796T>G c.2066T>G c.3879T>G (p.Cys1293Trp) n.253T>G c.4035T>G (p.Cys1345Trp) c.*100T>G (n.*100T>G) | |
| 12 | g.51786601T= | CA2036202788 | SCN8A | c.4002T= (p.Cys1334=) c.1796T= c.2066T= c.3879T= (p.Cys1293=) n.253T= c.4035T= (p.Cys1345=) c.*100T= (n.*100T=) | |
| 12 | g.51786602C>A | CA384904743 | SCN8A | c.4003C>A (p.Leu1335Ile) c.1797C>A c.2067C>A c.3880C>A (p.Leu1294Ile) n.254C>A c.4036C>A (p.Leu1346Ile) c.*101C>A (n.*101C>A) | |
| 12 | g.51786602C>G | CA384904751 | SCN8A | c.4003C>G (p.Leu1335Val) c.1797C>G c.2067C>G c.3880C>G (p.Leu1294Val) n.254C>G c.4036C>G (p.Leu1346Val) c.*101C>G (n.*101C>G) | |
| 12 | g.51786602C>T | CA384904760 | SCN8A | c.4003C>T (p.Leu1335Phe) c.1797C>T c.2067C>T c.3880C>T (p.Leu1294Phe) n.254C>T c.4036C>T (p.Leu1346Phe) c.*101C>T (n.*101C>T) | COSMIC COSMIC |
| 12 | g.51786603T>A | CA384904763 | SCN8A | c.4004T>A (p.Leu1335His) c.1798T>A c.2068T>A c.3881T>A (p.Leu1294His) n.255T>A c.4037T>A (p.Leu1346His) c.*102T>A (n.*102T>A) | |
| 12 | g.51786603T>C | CA384904764 | SCN8A | c.4004T>C (p.Leu1335Pro) c.1798T>C c.2068T>C c.3881T>C (p.Leu1294Pro) n.255T>C c.4037T>C (p.Leu1346Pro) c.*102T>C (n.*102T>C) | |
| 12 | g.51786603T>G | CA384904765 | SCN8A | c.4004T>G (p.Leu1335Arg) c.1798T>G c.2068T>G c.3881T>G (p.Leu1294Arg) n.255T>G c.4037T>G (p.Leu1346Arg) c.*102T>G (n.*102T>G) | |
| 12 | g.51786604C>A | CA480061555 | SCN8A | c.4005C>A (p.Leu1335=) c.1799C>A c.2069C>A c.3882C>A (p.Leu1294=) n.256C>A c.4038C>A (p.Leu1346=) c.*103C>A (n.*103C>A) | gnomAD v4 |
| 12 | g.51786604C= | CA2036202789 | SCN8A | c.4005C= (p.Leu1335=) c.1799C= c.2069C= c.3882C= (p.Leu1294=) n.256C= c.4038C= (p.Leu1346=) c.*103C= (n.*103C=) | |
| 12 | g.51786604C>G | CA480061556 | SCN8A | c.4005C>G (p.Leu1335=) c.1799C>G c.2069C>G c.3882C>G (p.Leu1294=) n.256C>G c.4038C>G (p.Leu1346=) c.*103C>G (n.*103C>G) | |
| 12 | g.51786604C>T | CA236328224 | SCN8A | c.4005C>T (p.Leu1335=) c.1799C>T c.2069C>T c.3882C>T (p.Leu1294=) n.256C>T c.4038C>T (p.Leu1346=) c.*103C>T (n.*103C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |