UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.51786584A= | CA2036202783 | SCN8A | c.3985A= (p.Asn1329=) c.1779A= c.2049A= c.3862A= (p.Asn1288=) n.236A= c.4018A= (p.Asn1340=) c.*83A= (n.*83A=) | |
| 12 | g.51786584A>C | CA384904605 | SCN8A | c.3985A>C (p.Asn1329His) c.1779A>C c.2049A>C c.3862A>C (p.Asn1288His) n.236A>C c.4018A>C (p.Asn1340His) c.*83A>C (n.*83A>C) | |
| 12 | g.51786584A>G | CA242214 | SCN8A | c.3985A>G (p.Asn1329Asp) c.1779A>G c.2049A>G c.3862A>G (p.Asn1288Asp) n.236A>G c.4018A>G (p.Asn1340Asp) c.*83A>G (n.*83A>G) | ClinVar dbSNP |
| 12 | g.51786584A>T | CA384904619 | SCN8A | c.3985A>T (p.Asn1329Tyr) c.1779A>T c.2049A>T c.3862A>T (p.Asn1288Tyr) n.236A>T c.4018A>T (p.Asn1340Tyr) c.*83A>T (n.*83A>T) | |
| 12 | g.51786585A>C | CA384904620 | SCN8A | c.3986A>C (p.Asn1329Thr) c.1780A>C c.2050A>C c.3863A>C (p.Asn1288Thr) n.237A>C c.4019A>C (p.Asn1340Thr) c.*84A>C (n.*84A>C) | |
| 12 | g.51786585A>G | CA384904626 | SCN8A | c.3986A>G (p.Asn1329Ser) c.1780A>G c.2050A>G c.3863A>G (p.Asn1288Ser) n.237A>G c.4019A>G (p.Asn1340Ser) c.*84A>G (n.*84A>G) | |
| 12 | g.51786585A>T | CA384904624 | SCN8A | c.3986A>T (p.Asn1329Ile) c.1780A>T c.2050A>T c.3863A>T (p.Asn1288Ile) n.237A>T c.4019A>T (p.Asn1340Ile) c.*84A>T (n.*84A>T) | |
| 12 | g.51786586T>A | CA384904629 | SCN8A | c.3987T>A (p.Asn1329Lys) c.1781T>A c.2051T>A c.3864T>A (p.Asn1288Lys) n.238T>A c.4020T>A (p.Asn1340Lys) c.*85T>A (n.*85T>A) | |
| 12 | g.51786586T>C | CA480061527 | SCN8A | c.3987T>C (p.Asn1329=) c.1781T>C c.2051T>C c.3864T>C (p.Asn1288=) n.238T>C c.4020T>C (p.Asn1340=) c.*85T>C (n.*85T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51786586T>G | CA384904631 | SCN8A | c.3987T>G (p.Asn1329Lys) c.1781T>G c.2051T>G c.3864T>G (p.Asn1288Lys) n.238T>G c.4020T>G (p.Asn1340Lys) c.*85T>G (n.*85T>G) | |
| 12 | g.51786586T= | CA2036202784 | SCN8A | c.3987T= (p.Asn1329=) c.1781T= c.2051T= c.3864T= (p.Asn1288=) n.238T= c.4020T= (p.Asn1340=) c.*85T= (n.*85T=) | |
| 12 | g.51786587G>A | CA384904634 | SCN8A | c.3988G>A (p.Val1330Met) c.1782G>A c.2052G>A c.3865G>A (p.Val1289Met) n.239G>A c.4021G>A (p.Val1341Met) c.*86G>A (n.*86G>A) | ClinVar |
| 12 | g.51786587G>C | CA384904637 | SCN8A | c.3988G>C (p.Val1330Leu) c.1782G>C c.2052G>C c.3865G>C (p.Val1289Leu) n.239G>C c.4021G>C (p.Val1341Leu) c.*86G>C (n.*86G>C) | |
| 12 | g.51786587G>T | CA384904639 | SCN8A | c.3988G>T (p.Val1330Leu) c.1782G>T c.2052G>T c.3865G>T (p.Val1289Leu) n.239G>T c.4021G>T (p.Val1341Leu) c.*86G>T (n.*86G>T) | |
| 12 | g.51786588T>A | CA384904642 | SCN8A | c.3989T>A (p.Val1330Glu) c.1783T>A c.2053T>A c.3866T>A (p.Val1289Glu) n.240T>A c.4022T>A (p.Val1341Glu) c.*87T>A (n.*87T>A) | |
| 12 | g.51786588T>C | CA384904644 | SCN8A | c.3989T>C (p.Val1330Ala) c.1783T>C c.2053T>C c.3866T>C (p.Val1289Ala) n.240T>C c.4022T>C (p.Val1341Ala) c.*87T>C (n.*87T>C) | |
| 12 | g.51786588T>G | CA384904646 | SCN8A | c.3989T>G (p.Val1330Gly) c.1783T>G c.2053T>G c.3866T>G (p.Val1289Gly) n.240T>G c.4022T>G (p.Val1341Gly) c.*87T>G (n.*87T>G) | |
| 12 | g.51786589G>A | CA480061532 | SCN8A | c.3990G>A (p.Val1330=) c.1784G>A c.2054G>A c.3867G>A (p.Val1289=) n.241G>A c.4023G>A (p.Val1341=) c.*88G>A (n.*88G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51786589G>C | CA480061530 | SCN8A | c.3990G>C (p.Val1330=) c.1784G>C c.2054G>C c.3867G>C (p.Val1289=) n.241G>C c.4023G>C (p.Val1341=) c.*88G>C (n.*88G>C) | |
| 12 | g.51786589G= | CA2036202785 | SCN8A | c.3990G= (p.Val1330=) c.1784G= c.2054G= c.3867G= (p.Val1289=) n.241G= c.4023G= (p.Val1341=) c.*88G= (n.*88G=) | |
| 12 | g.51786589G>T | CA480061531 | SCN8A | c.3990G>T (p.Val1330=) c.1784G>T c.2054G>T c.3867G>T (p.Val1289=) n.241G>T c.4023G>T (p.Val1341=) c.*88G>T (n.*88G>T) | gnomAD v4 |
| 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 |
| 12 | g.51786605A>C | CA384904766 | SCN8A | c.4006A>C (p.Ile1336Leu) c.1800A>C c.2070A>C c.3883A>C (p.Ile1295Leu) n.257A>C c.4039A>C (p.Ile1347Leu) c.*104A>C (n.*104A>C) | |
| 12 | g.51786605A>G | CA384904771 | SCN8A | c.4006A>G (p.Ile1336Val) c.1800A>G c.2070A>G c.3883A>G (p.Ile1295Val) n.257A>G c.4039A>G (p.Ile1347Val) c.*104A>G (n.*104A>G) | COSMIC COSMIC |
| 12 | g.51786605A>T | CA384904775 | SCN8A | c.4006A>T (p.Ile1336Phe) c.1800A>T c.2070A>T c.3883A>T (p.Ile1295Phe) n.257A>T c.4039A>T (p.Ile1347Phe) c.*104A>T (n.*104A>T) | |
| 12 | g.51786606T>A | CA384904780 | SCN8A | c.4007T>A (p.Ile1336Asn) c.1801T>A c.2071T>A c.3884T>A (p.Ile1295Asn) n.258T>A c.4040T>A (p.Ile1347Asn) c.*105T>A (n.*105T>A) | |
| 12 | g.51786606T>C | CA384904777 | SCN8A | c.4007T>C (p.Ile1336Thr) c.1801T>C c.2071T>C c.3884T>C (p.Ile1295Thr) n.258T>C c.4040T>C (p.Ile1347Thr) c.*105T>C (n.*105T>C) | ClinVar dbSNP |
| 12 | g.51786606T>G | CA384904776 | SCN8A | c.4007T>G (p.Ile1336Ser) c.1801T>G c.2071T>G c.3884T>G (p.Ile1295Ser) n.258T>G c.4040T>G (p.Ile1347Ser) c.*105T>G (n.*105T>G) | |
| 12 | g.51786606T= | CA2036202790 | SCN8A | c.4007T= (p.Ile1336=) c.1801T= c.2071T= c.3884T= (p.Ile1295=) n.258T= c.4040T= (p.Ile1347=) c.*105T= (n.*105T=) | |
| 12 | g.51786607C>A | CA480061557 | SCN8A | c.4008C>A (p.Ile1336=) c.1802C>A c.2072C>A c.3885C>A (p.Ile1295=) n.259C>A c.4041C>A (p.Ile1347=) c.*106C>A (n.*106C>A) | |
| 12 | g.51786607C>G | CA384904790 | SCN8A | c.4008C>G (p.Ile1336Met) c.1802C>G c.2072C>G c.3885C>G (p.Ile1295Met) n.259C>G c.4041C>G (p.Ile1347Met) c.*106C>G (n.*106C>G) | |
| 12 | g.51786607C>T | CA480061558 | SCN8A | c.4008C>T (p.Ile1336=) c.1802C>T c.2072C>T c.3885C>T (p.Ile1295=) n.259C>T c.4041C>T (p.Ile1347=) c.*106C>T (n.*106C>T) | |
| 12 | g.51786608T>A | CA384904800 | SCN8A | c.4009T>A (p.Phe1337Ile) c.1803T>A c.2073T>A c.3886T>A (p.Phe1296Ile) n.260T>A c.4042T>A (p.Phe1348Ile) c.*107T>A (n.*107T>A) | |
| 12 | g.51786608T>C | CA384904805 | SCN8A | c.4009T>C (p.Phe1337Leu) c.1803T>C c.2073T>C c.3886T>C (p.Phe1296Leu) n.260T>C c.4042T>C (p.Phe1348Leu) c.*107T>C (n.*107T>C) | dbSNP |
| 12 | g.51786608T>G | CA384904809 | SCN8A | c.4009T>G (p.Phe1337Val) c.1803T>G c.2073T>G c.3886T>G (p.Phe1296Val) n.260T>G c.4042T>G (p.Phe1348Val) c.*107T>G (n.*107T>G) | |
| 12 | g.51786608T= | CA2036202791 | SCN8A | c.4009T= (p.Phe1337=) c.1803T= c.2073T= c.3886T= (p.Phe1296=) n.260T= c.4042T= (p.Phe1348=) c.*107T= (n.*107T=) | |
| 12 | g.51786609T>A | CA384904824 | SCN8A | c.4010T>A (p.Phe1337Tyr) c.1804T>A c.2074T>A c.3887T>A (p.Phe1296Tyr) n.261T>A c.4043T>A (p.Phe1348Tyr) c.*108T>A (n.*108T>A) | |
| 12 | g.51786609T>C | CA384904833 | SCN8A | c.4010T>C (p.Phe1337Ser) c.1804T>C c.2074T>C c.3887T>C (p.Phe1296Ser) n.261T>C c.4043T>C (p.Phe1348Ser) c.*108T>C (n.*108T>C) | |
| 12 | g.51786609T>G | CA384904836 | SCN8A | c.4010T>G (p.Phe1337Cys) c.1804T>G c.2074T>G c.3887T>G (p.Phe1296Cys) n.261T>G c.4043T>G (p.Phe1348Cys) c.*108T>G (n.*108T>G) | |
| 12 | g.51786610C>A | CA384904840 | SCN8A | c.4011C>A (p.Phe1337Leu) c.1805C>A c.2075C>A c.3888C>A (p.Phe1296Leu) n.262C>A c.4044C>A (p.Phe1348Leu) c.*109C>A (n.*109C>A) | |
| 12 | g.51786610C>G | CA384904842 | SCN8A | c.4011C>G (p.Phe1337Leu) c.1805C>G c.2075C>G c.3888C>G (p.Phe1296Leu) n.262C>G c.4044C>G (p.Phe1348Leu) c.*109C>G (n.*109C>G) | |
| 12 | g.51786610C>T | CA480061562 | SCN8A | c.4011C>T (p.Phe1337=) c.1805C>T c.2075C>T c.3888C>T (p.Phe1296=) n.262C>T c.4044C>T (p.Phe1348=) c.*109C>T (n.*109C>T) | COSMIC COSMIC |
| 12 | g.51786611T>A | CA384904852 | SCN8A | c.4012T>A (p.Trp1338Arg) c.1806T>A c.2076T>A c.3889T>A (p.Trp1297Arg) n.263T>A c.4045T>A (p.Trp1349Arg) c.*110T>A (n.*110T>A) | |
| 12 | g.51786611T>C | CA384904854 | SCN8A | c.4012T>C (p.Trp1338Arg) c.1806T>C c.2076T>C c.3889T>C (p.Trp1297Arg) n.263T>C c.4045T>C (p.Trp1349Arg) c.*110T>C (n.*110T>C) | |
| 12 | g.51786611T>G | CA384904856 | SCN8A | c.4012T>G (p.Trp1338Gly) c.1806T>G c.2076T>G c.3889T>G (p.Trp1297Gly) n.263T>G c.4045T>G (p.Trp1349Gly) c.*110T>G (n.*110T>G) | |
| 12 | g.51786612G>A | CA384904866 | SCN8A | c.4013G>A (p.Trp1338Ter) c.1807G>A c.2077G>A c.3890G>A (p.Trp1297Ter) n.264G>A c.4046G>A (p.Trp1349Ter) c.*111G>A (n.*111G>A) | |
| 12 | g.51786612G>C | CA384904869 | SCN8A | c.4013G>C (p.Trp1338Ser) c.1807G>C c.2077G>C c.3890G>C (p.Trp1297Ser) n.264G>C c.4046G>C (p.Trp1349Ser) c.*111G>C (n.*111G>C) | |
| 12 | g.51786612G>T | CA384904859 | SCN8A | c.4013G>T (p.Trp1338Leu) c.1807G>T c.2077G>T c.3890G>T (p.Trp1297Leu) n.264G>T c.4046G>T (p.Trp1349Leu) c.*111G>T (n.*111G>T) | |
| 12 | g.51786613G>A | CA384904875 | SCN8A | c.4014G>A (p.Trp1338Ter) c.1808G>A c.2078G>A c.3891G>A (p.Trp1297Ter) n.265G>A c.4047G>A (p.Trp1349Ter) c.*112G>A (n.*112G>A) | dbSNP |
| 12 | g.51786613G>C | CA384904879 | SCN8A | c.4014G>C (p.Trp1338Cys) c.1808G>C c.2078G>C c.3891G>C (p.Trp1297Cys) n.265G>C c.4047G>C (p.Trp1349Cys) c.*112G>C (n.*112G>C) | |
| 12 | g.51786613G= | CA2036202792 | SCN8A | c.4014G= (p.Trp1338=) c.1808G= c.2078G= c.3891G= (p.Trp1297=) n.265G= c.4047G= (p.Trp1349=) c.*112G= (n.*112G=) | |
| 12 | g.51786613G>T | CA384904882 | SCN8A | c.4014G>T (p.Trp1338Cys) c.1808G>T c.2078G>T c.3891G>T (p.Trp1297Cys) n.265G>T c.4047G>T (p.Trp1349Cys) c.*112G>T (n.*112G>T) | dbSNP |
| 12 | g.51786614C>A | CA384904883 | SCN8A | c.4015C>A (p.Leu1339Met) c.1809C>A c.2079C>A c.3892C>A (p.Leu1298Met) n.266C>A c.4048C>A (p.Leu1350Met) c.*113C>A (n.*113C>A) | |
| 12 | g.51786614C>G | CA384904884 | SCN8A | c.4015C>G (p.Leu1339Val) c.1809C>G c.2079C>G c.3892C>G (p.Leu1298Val) n.266C>G c.4048C>G (p.Leu1350Val) c.*113C>G (n.*113C>G) | |
| 12 | g.51786614C>T | CA480061564 | SCN8A | c.4015C>T (p.Leu1339=) c.1809C>T c.2079C>T c.3892C>T (p.Leu1298=) n.266C>T c.4048C>T (p.Leu1350=) c.*113C>T (n.*113C>T) | |
| 12 | g.51786615T>A | CA384904902 | SCN8A | c.4016T>A (p.Leu1339Gln) c.1810T>A c.2080T>A c.3893T>A (p.Leu1298Gln) n.267T>A c.4049T>A (p.Leu1350Gln) c.*114T>A (n.*114T>A) | |
| 12 | g.51786615T>C | CA384904893 | SCN8A | c.4016T>C (p.Leu1339Pro) c.1810T>C c.2080T>C c.3893T>C (p.Leu1298Pro) n.267T>C c.4049T>C (p.Leu1350Pro) c.*114T>C (n.*114T>C) | |
| 12 | g.51786615T>G | CA384904897 | SCN8A | c.4016T>G (p.Leu1339Arg) c.1810T>G c.2080T>G c.3893T>G (p.Leu1298Arg) n.267T>G c.4049T>G (p.Leu1350Arg) c.*114T>G (n.*114T>G) | |
| 12 | g.51786616G>A | CA480061565 | SCN8A | c.4017G>A (p.Leu1339=) c.1811G>A c.2081G>A c.3894G>A (p.Leu1298=) n.268G>A c.4050G>A (p.Leu1350=) c.*115G>A (n.*115G>A) | |
| 12 | g.51786616G>C | CA480061567 | SCN8A | c.4017G>C (p.Leu1339=) c.1811G>C c.2081G>C c.3894G>C (p.Leu1298=) n.268G>C c.4050G>C (p.Leu1350=) c.*115G>C (n.*115G>C) | |
| 12 | g.51786616G>T | CA480061566 | SCN8A | c.4017G>T (p.Leu1339=) c.1811G>T c.2081G>T c.3894G>T (p.Leu1298=) n.268G>T c.4050G>T (p.Leu1350=) c.*115G>T (n.*115G>T) | |
| 12 | g.51786616dup | CA2580615197 | SCN8A | c.4017dup (p.Ile1340AspfsTer8) c.1811dup c.2081dup c.3894dup (p.Ile1299AspfsTer8) n.268dup c.4050dup (p.Ile1351AspfsTer8) c.*115dup (n.*115dup) | ClinVar |
| 12 | g.51786617A>C | CA384904906 | SCN8A | c.4018A>C (p.Ile1340Leu) c.1812A>C c.2082A>C c.3895A>C (p.Ile1299Leu) n.269A>C c.4051A>C (p.Ile1351Leu) c.*116A>C (n.*116A>C) | |
| 12 | g.51786617A>G | CA384904910 | SCN8A | c.4018A>G (p.Ile1340Val) c.1812A>G c.2082A>G c.3895A>G (p.Ile1299Val) n.269A>G c.4051A>G (p.Ile1351Val) c.*116A>G (n.*116A>G) | |
| 12 | g.51786617A>T | CA384904912 | SCN8A | c.4018A>T (p.Ile1340Phe) c.1812A>T c.2082A>T c.3895A>T (p.Ile1299Phe) n.269A>T c.4051A>T (p.Ile1351Phe) c.*116A>T (n.*116A>T) | |
| 12 | g.51786618T>A | CA384904913 | SCN8A | c.4019T>A (p.Ile1340Asn) c.1813T>A c.2083T>A c.3896T>A (p.Ile1299Asn) n.270T>A c.4052T>A (p.Ile1351Asn) c.*117T>A (n.*117T>A) | |
| 12 | g.51786618T>C | CA384904914 | SCN8A | c.4019T>C (p.Ile1340Thr) c.1813T>C c.2083T>C c.3896T>C (p.Ile1299Thr) n.270T>C c.4052T>C (p.Ile1351Thr) c.*117T>C (n.*117T>C) | |
| 12 | g.51786618T>G | CA384904915 | SCN8A | c.4019T>G (p.Ile1340Ser) c.1813T>G c.2083T>G c.3896T>G (p.Ile1299Ser) n.270T>G c.4052T>G (p.Ile1351Ser) c.*117T>G (n.*117T>G) | |
| 12 | g.51786619T>A | CA480061569 | SCN8A | c.4020T>A (p.Ile1340=) c.1814T>A c.2084T>A c.3897T>A (p.Ile1299=) n.271T>A c.4053T>A (p.Ile1351=) c.*118T>A (n.*118T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51786619T>C | CA480061570 | SCN8A | c.4020T>C (p.Ile1340=) c.1814T>C c.2084T>C c.3897T>C (p.Ile1299=) n.271T>C c.4053T>C (p.Ile1351=) c.*118T>C (n.*118T>C) | |
| 12 | g.51786619T>G | CA384904916 | SCN8A | c.4020T>G (p.Ile1340Met) c.1814T>G c.2084T>G c.3897T>G (p.Ile1299Met) n.271T>G c.4053T>G (p.Ile1351Met) c.*118T>G (n.*118T>G) | |
| 12 | g.51786619T= | CA2036202793 | SCN8A | c.4020T= (p.Ile1340=) c.1814T= c.2084T= c.3897T= (p.Ile1299=) n.271T= c.4053T= (p.Ile1351=) c.*118T= (n.*118T=) | |
| 12 | g.51786620T>A | CA384904924 | SCN8A | c.4021T>A (p.Phe1341Ile) c.1815T>A c.2085T>A c.3898T>A (p.Phe1300Ile) n.272T>A c.4054T>A (p.Phe1352Ile) c.*119T>A (n.*119T>A) | |
| 12 | g.51786620T>C | CA384904918 | SCN8A | c.4021T>C (p.Phe1341Leu) c.1815T>C c.2085T>C c.3898T>C (p.Phe1300Leu) n.272T>C c.4054T>C (p.Phe1352Leu) c.*119T>C (n.*119T>C) | |
| 12 | g.51786620T>G | CA384904929 | SCN8A | c.4021T>G (p.Phe1341Val) c.1815T>G c.2085T>G c.3898T>G (p.Phe1300Val) n.272T>G c.4054T>G (p.Phe1352Val) c.*119T>G (n.*119T>G) | |
| 12 | g.51786621T>A | CA384904934 | SCN8A | c.4022T>A (p.Phe1341Tyr) c.1816T>A c.2086T>A c.3899T>A (p.Phe1300Tyr) n.273T>A c.4055T>A (p.Phe1352Tyr) c.*120T>A (n.*120T>A) | |
| 12 | g.51786621T>C | CA384904938 | SCN8A | c.4022T>C (p.Phe1341Ser) c.1816T>C c.2086T>C c.3899T>C (p.Phe1300Ser) n.273T>C c.4055T>C (p.Phe1352Ser) c.*120T>C (n.*120T>C) | |
| 12 | g.51786621T>G | CA384904937 | SCN8A | c.4022T>G (p.Phe1341Cys) c.1816T>G c.2086T>G c.3899T>G (p.Phe1300Cys) n.273T>G c.4055T>G (p.Phe1352Cys) c.*120T>G (n.*120T>G) | |
| 12 | g.51786622C>A | CA384904939 | SCN8A | c.4023C>A (p.Phe1341Leu) c.1817C>A c.2087C>A c.3900C>A (p.Phe1300Leu) n.274C>A c.4056C>A (p.Phe1352Leu) c.*121C>A (n.*121C>A) | |
| 12 | g.51786622C>G | CA384904940 | SCN8A | c.4023C>G (p.Phe1341Leu) c.1817C>G c.2087C>G c.3900C>G (p.Phe1300Leu) n.274C>G c.4056C>G (p.Phe1352Leu) c.*121C>G (n.*121C>G) | |
| 12 | g.51786622C>T | CA480061573 | SCN8A | c.4023C>T (p.Phe1341=) c.1817C>T c.2087C>T c.3900C>T (p.Phe1300=) n.274C>T c.4056C>T (p.Phe1352=) c.*121C>T (n.*121C>T) | COSMIC COSMIC |
| 12 | g.51786623A>C | CA384904942 | SCN8A | c.4024A>C (p.Ser1342Arg) c.1818A>C c.2088A>C c.3901A>C (p.Ser1301Arg) n.275A>C c.4057A>C (p.Ser1353Arg) c.*122A>C (n.*122A>C) | |
| 12 | g.51786623A>G | CA384904955 | SCN8A | c.4024A>G (p.Ser1342Gly) c.1818A>G c.2088A>G c.3901A>G (p.Ser1301Gly) n.275A>G c.4057A>G (p.Ser1353Gly) c.*122A>G (n.*122A>G) | |
| 12 | g.51786623A>T | CA384904960 | SCN8A | c.4024A>T (p.Ser1342Cys) c.1818A>T c.2088A>T c.3901A>T (p.Ser1301Cys) n.275A>T c.4057A>T (p.Ser1353Cys) c.*122A>T (n.*122A>T) | |
| 12 | g.51786624G>A | CA384904965 | SCN8A | c.4025G>A (p.Ser1342Asn) c.1819G>A c.2089G>A c.3902G>A (p.Ser1301Asn) n.276G>A c.4058G>A (p.Ser1353Asn) c.*123G>A (n.*123G>A) | |
| 12 | g.51786624G>C | CA384904967 | SCN8A | c.4025G>C (p.Ser1342Thr) c.1819G>C c.2089G>C c.3902G>C (p.Ser1301Thr) n.276G>C c.4058G>C (p.Ser1353Thr) c.*123G>C (n.*123G>C) | |
| 12 | g.51786624G>T | CA384904969 | SCN8A | c.4025G>T (p.Ser1342Ile) c.1819G>T c.2089G>T c.3902G>T (p.Ser1301Ile) n.276G>T c.4058G>T (p.Ser1353Ile) c.*123G>T (n.*123G>T) | |
| 12 | g.51786625C>A | CA384904973 | SCN8A | c.4026C>A (p.Ser1342Arg) c.1820C>A c.2090C>A c.3903C>A (p.Ser1301Arg) n.277C>A c.4059C>A (p.Ser1353Arg) c.*124C>A (n.*124C>A) | |
| 12 | g.51786625C>G | CA384904976 | SCN8A | c.4026C>G (p.Ser1342Arg) c.1820C>G c.2090C>G c.3903C>G (p.Ser1301Arg) n.277C>G c.4059C>G (p.Ser1353Arg) c.*124C>G (n.*124C>G) | |
| 12 | g.51786625C>T | CA480061577 | SCN8A | c.4026C>T (p.Ser1342=) c.1820C>T c.2090C>T c.3903C>T (p.Ser1301=) n.277C>T c.4059C>T (p.Ser1353=) c.*124C>T (n.*124C>T) | gnomAD v4 |
| 12 | g.51786626A>C | CA384904979 | SCN8A | c.4027A>C (p.Ile1343Leu) c.1821A>C c.2091A>C c.3904A>C (p.Ile1302Leu) n.278A>C c.4060A>C (p.Ile1354Leu) c.*125A>C (n.*125A>C) | |
| 12 | g.51786626A>G | CA384904981 | SCN8A | c.4027A>G (p.Ile1343Val) c.1821A>G c.2091A>G c.3904A>G (p.Ile1302Val) n.278A>G c.4060A>G (p.Ile1354Val) c.*125A>G (n.*125A>G) | |
| 12 | g.51786626A>T | CA384904993 | SCN8A | c.4027A>T (p.Ile1343Phe) c.1821A>T c.2091A>T c.3904A>T (p.Ile1302Phe) n.278A>T c.4060A>T (p.Ile1354Phe) c.*125A>T (n.*125A>T) | |
| 12 | g.51786627T>A | CA384904999 | SCN8A | c.4028T>A (p.Ile1343Asn) c.1822T>A c.2092T>A c.3905T>A (p.Ile1302Asn) n.279T>A c.4061T>A (p.Ile1354Asn) c.*126T>A (n.*126T>A) | |
| 12 | g.51786627T>C | CA384905001 | SCN8A | c.4028T>C (p.Ile1343Thr) c.1822T>C c.2092T>C c.3905T>C (p.Ile1302Thr) n.279T>C c.4061T>C (p.Ile1354Thr) c.*126T>C (n.*126T>C) | |
| 12 | g.51786627T>G | CA384905000 | SCN8A | c.4028T>G (p.Ile1343Ser) c.1822T>G c.2092T>G c.3905T>G (p.Ile1302Ser) n.279T>G c.4061T>G (p.Ile1354Ser) c.*126T>G (n.*126T>G) | |
| 12 | g.51786628C>A | CA236328225 | SCN8A | c.4029C>A (p.Ile1343=) c.1823C>A c.2093C>A c.3906C>A (p.Ile1302=) n.280C>A c.4062C>A (p.Ile1354=) c.*127C>A (n.*127C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51786628C= | CA2036202794 | SCN8A | c.4029C= (p.Ile1343=) c.1823C= c.2093C= c.3906C= (p.Ile1302=) n.280C= c.4062C= (p.Ile1354=) c.*127C= (n.*127C=) | |
| 12 | g.51786628C>G | CA384905002 | SCN8A | c.4029C>G (p.Ile1343Met) c.1823C>G c.2093C>G c.3906C>G (p.Ile1302Met) n.280C>G c.4062C>G (p.Ile1354Met) c.*127C>G (n.*127C>G) | |
| 12 | g.51786628C>T | CA480061578 | SCN8A | c.4029C>T (p.Ile1343=) c.1823C>T c.2093C>T c.3906C>T (p.Ile1302=) n.280C>T c.4062C>T (p.Ile1354=) c.*127C>T (n.*127C>T) | |
| 12 | g.51786629A= | CA2036202795 | SCN8A | c.4030A= (p.Met1344=) c.1824A= c.2094A= c.3907A= (p.Met1303=) n.281A= c.4063A= (p.Met1355=) c.*128A= (n.*128A=) | |
| 12 | g.51786629A>C | CA384905006 | SCN8A | c.4030A>C (p.Met1344Leu) c.1824A>C c.2094A>C c.3907A>C (p.Met1303Leu) n.281A>C c.4063A>C (p.Met1355Leu) c.*128A>C (n.*128A>C) | |
| 12 | g.51786629A>G | CA6571745 | SCN8A | c.4030A>G (p.Met1344Val) c.1824A>G c.2094A>G c.3907A>G (p.Met1303Val) n.281A>G c.4063A>G (p.Met1355Val) c.*128A>G (n.*128A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 12 | g.51786629A>T | CA384905020 | SCN8A | c.4030A>T (p.Met1344Leu) c.1824A>T c.2094A>T c.3907A>T (p.Met1303Leu) n.281A>T c.4063A>T (p.Met1355Leu) c.*128A>T (n.*128A>T) | |
| 12 | g.51786630T>A | CA384905023 | SCN8A | c.4031T>A (p.Met1344Lys) c.1825T>A c.2095T>A c.3908T>A (p.Met1303Lys) n.282T>A c.4064T>A (p.Met1355Lys) c.*129T>A (n.*129T>A) | |
| 12 | g.51786630T>C | CA384905026 | SCN8A | c.4031T>C (p.Met1344Thr) c.1825T>C c.2095T>C c.3908T>C (p.Met1303Thr) n.282T>C c.4064T>C (p.Met1355Thr) c.*129T>C (n.*129T>C) | |
| 12 | g.51786630T>G | CA384905030 | SCN8A | c.4031T>G (p.Met1344Arg) c.1825T>G c.2095T>G c.3908T>G (p.Met1303Arg) n.282T>G c.4064T>G (p.Met1355Arg) c.*129T>G (n.*129T>G) | |
| 12 | g.51786631G>A | CA384905033 | SCN8A | c.4032G>A (p.Met1344Ile) c.1826G>A c.2096G>A c.3909G>A (p.Met1303Ile) n.283G>A c.4065G>A (p.Met1355Ile) c.*130G>A (n.*130G>A) | |
| 12 | g.51786631G>C | CA384905035 | SCN8A | c.4032G>C (p.Met1344Ile) c.1826G>C c.2096G>C c.3909G>C (p.Met1303Ile) n.283G>C c.4065G>C (p.Met1355Ile) c.*130G>C (n.*130G>C) | |
| 12 | g.51786631G>T | CA384905038 | SCN8A | c.4032G>T (p.Met1344Ile) c.1826G>T c.2096G>T c.3909G>T (p.Met1303Ile) n.283G>T c.4065G>T (p.Met1355Ile) c.*130G>T (n.*130G>T) | |
| 12 | g.51786632G>A | CA384905048 | SCN8A | c.4033G>A (p.Gly1345Arg) c.1827G>A c.2097G>A c.3910G>A (p.Gly1304Arg) n.284G>A c.4066G>A (p.Gly1356Arg) c.*131G>A (n.*131G>A) | |
| 12 | g.51786632G>C | CA384905046 | SCN8A | c.4033G>C (p.Gly1345Arg) c.1827G>C c.2097G>C c.3910G>C (p.Gly1304Arg) n.284G>C c.4066G>C (p.Gly1356Arg) c.*131G>C (n.*131G>C) | |
| 12 | g.51786632G= | CA2036202796 | SCN8A | c.4033G= (p.Gly1345=) c.1827G= c.2097G= c.3910G= (p.Gly1304=) n.284G= c.4066G= (p.Gly1356=) c.*131G= (n.*131G=) | |
| 12 | g.51786632G>T | CA384905043 | SCN8A | c.4033G>T (p.Gly1345Ter) c.1827G>T c.2097G>T c.3910G>T (p.Gly1304Ter) n.284G>T c.4066G>T (p.Gly1356Ter) c.*131G>T (n.*131G>T) | ClinVar dbSNP |
| 12 | g.51786633G>A | CA384905054 | SCN8A | c.4034G>A (p.Gly1345Glu) c.1828G>A c.2098G>A c.3911G>A (p.Gly1304Glu) n.285G>A c.4067G>A (p.Gly1356Glu) c.*132G>A (n.*132G>A) | |
| 12 | g.51786633G>C | CA384905059 | SCN8A | c.4034G>C (p.Gly1345Ala) c.1828G>C c.2098G>C c.3911G>C (p.Gly1304Ala) n.285G>C c.4067G>C (p.Gly1356Ala) c.*132G>C (n.*132G>C) | |
| 12 | g.51786633G>T | CA384905061 | SCN8A | c.4034G>T (p.Gly1345Val) c.1828G>T c.2098G>T c.3911G>T (p.Gly1304Val) n.285G>T c.4067G>T (p.Gly1356Val) c.*132G>T (n.*132G>T) | |
| 12 | g.51786634A>C | CA480061579 | SCN8A | c.4035A>C (p.Gly1345=) c.1829A>C c.2099A>C c.3912A>C (p.Gly1304=) n.286A>C c.4068A>C (p.Gly1356=) c.*133A>C (n.*133A>C) | |
| 12 | g.51786634A>G | CA480061581 | SCN8A | c.4035A>G (p.Gly1345=) c.1829A>G c.2099A>G c.3912A>G (p.Gly1304=) n.286A>G c.4068A>G (p.Gly1356=) c.*133A>G (n.*133A>G) | |
| 12 | g.51786634A>T | CA480061582 | SCN8A | c.4035A>T (p.Gly1345=) c.1829A>T c.2099A>T c.3912A>T (p.Gly1304=) n.286A>T c.4068A>T (p.Gly1356=) c.*133A>T (n.*133A>T) | |
| 12 | g.51786635G>A | CA6571746 | SCN8A | c.4036G>A (p.Val1346Ile) c.1830G>A c.2100G>A c.3913G>A (p.Val1305Ile) n.287G>A c.4069G>A (p.Val1357Ile) c.*134G>A (n.*134G>A) | dbSNP ExAC gnomAD v2 |
| 12 | g.51786635G>C | CA384905070 | SCN8A | c.4036G>C (p.Val1346Leu) c.1830G>C c.2100G>C c.3913G>C (p.Val1305Leu) n.287G>C c.4069G>C (p.Val1357Leu) c.*134G>C (n.*134G>C) | |
| 12 | g.51786635G= | CA2036202797 | SCN8A | c.4036G= (p.Val1346=) c.1830G= c.2100G= c.3913G= (p.Val1305=) n.287G= c.4069G= (p.Val1357=) c.*134G= (n.*134G=) | |
| 12 | g.51786635G>T | CA384905071 | SCN8A | c.4036G>T (p.Val1346Phe) c.1830G>T c.2100G>T c.3913G>T (p.Val1305Phe) n.287G>T c.4069G>T (p.Val1357Phe) c.*134G>T (n.*134G>T) | |
| 12 | g.51786636T>A | CA384905072 | SCN8A | c.4037T>A (p.Val1346Asp) c.1831T>A c.2101T>A c.3914T>A (p.Val1305Asp) n.288T>A c.4070T>A (p.Val1357Asp) c.*135T>A (n.*135T>A) | |
| 12 | g.51786636T>C | CA384905073 | SCN8A | c.4037T>C (p.Val1346Ala) c.1831T>C c.2101T>C c.3914T>C (p.Val1305Ala) n.288T>C c.4070T>C (p.Val1357Ala) c.*135T>C (n.*135T>C) | |
| 12 | g.51786636T>G | CA384905074 | SCN8A | c.4037T>G (p.Val1346Gly) c.1831T>G c.2101T>G c.3914T>G (p.Val1305Gly) n.288T>G c.4070T>G (p.Val1357Gly) c.*135T>G (n.*135T>G) | |
| 12 | g.51786637T>A | CA480061586 | SCN8A | c.4038T>A (p.Val1346=) c.1832T>A c.2102T>A c.3915T>A (p.Val1305=) n.289T>A c.4071T>A (p.Val1357=) c.*136T>A (n.*136T>A) | |
| 12 | g.51786637T>C | CA480061584 | SCN8A | c.4038T>C (p.Val1346=) c.1832T>C c.2102T>C c.3915T>C (p.Val1305=) n.289T>C c.4071T>C (p.Val1357=) c.*136T>C (n.*136T>C) | gnomAD v4 |
| 12 | g.51786637T>G | CA480061583 | SCN8A | c.4038T>G (p.Val1346=) c.1832T>G c.2102T>G c.3915T>G (p.Val1305=) n.289T>G c.4071T>G (p.Val1357=) c.*136T>G (n.*136T>G) | |
| 12 | g.51786638A>C | CA384905075 | SCN8A | c.4039A>C (p.Asn1347His) c.1833A>C c.2103A>C c.3916A>C (p.Asn1306His) n.290A>C c.4072A>C (p.Asn1358His) c.*137A>C (n.*137A>C) | |
| 12 | g.51786638A>G | CA384905076 | SCN8A | c.4039A>G (p.Asn1347Asp) c.1833A>G c.2103A>G c.3916A>G (p.Asn1306Asp) n.290A>G c.4072A>G (p.Asn1358Asp) c.*137A>G (n.*137A>G) | |
| 12 | g.51786638A>T | CA384905077 | SCN8A | c.4039A>T (p.Asn1347Tyr) c.1833A>T c.2103A>T c.3916A>T (p.Asn1306Tyr) n.290A>T c.4072A>T (p.Asn1358Tyr) c.*137A>T (n.*137A>T) | |
| 12 | g.51786639A>C | CA384905080 | SCN8A | c.4040A>C (p.Asn1347Thr) c.1834A>C c.2104A>C c.3917A>C (p.Asn1306Thr) n.291A>C c.4073A>C (p.Asn1358Thr) c.*138A>C (n.*138A>C) | |
| 12 | g.51786639A>G | CA384905079 | SCN8A | c.4040A>G (p.Asn1347Ser) c.1834A>G c.2104A>G c.3917A>G (p.Asn1306Ser) n.291A>G c.4073A>G (p.Asn1358Ser) c.*138A>G (n.*138A>G) | |
| 12 | g.51786639A>T | CA384905078 | SCN8A | c.4040A>T (p.Asn1347Ile) c.1834A>T c.2104A>T c.3917A>T (p.Asn1306Ile) n.291A>T c.4073A>T (p.Asn1358Ile) c.*138A>T (n.*138A>T) | |
| 12 | g.51786640C>A | CA384905082 | SCN8A | c.4041C>A (p.Asn1347Lys) c.1835C>A c.2105C>A c.3918C>A (p.Asn1306Lys) n.292C>A c.4074C>A (p.Asn1358Lys) c.*139C>A (n.*139C>A) | |
| 12 | g.51786640C>G | CA384905083 | SCN8A | c.4041C>G (p.Asn1347Lys) c.1835C>G c.2105C>G c.3918C>G (p.Asn1306Lys) n.292C>G c.4074C>G (p.Asn1358Lys) c.*139C>G (n.*139C>G) | |
| 12 | g.51786640C>T | CA480061587 | SCN8A | c.4041C>T (p.Asn1347=) c.1835C>T c.2105C>T c.3918C>T (p.Asn1306=) n.292C>T c.4074C>T (p.Asn1358=) c.*139C>T (n.*139C>T) | |
| 12 | g.51786641T>A | CA384905087 | SCN8A | c.4042T>A (p.Leu1348Met) c.1836T>A c.2106T>A c.3919T>A (p.Leu1307Met) n.293T>A c.4075T>A (p.Leu1359Met) c.*140T>A (n.*140T>A) | |
| 12 | g.51786641T>C | CA480061588 | SCN8A | c.4042T>C (p.Leu1348=) c.1836T>C c.2106T>C c.3919T>C (p.Leu1307=) n.293T>C c.4075T>C (p.Leu1359=) c.*140T>C (n.*140T>C) | |
| 12 | g.51786641T>G | CA384905089 | SCN8A | c.4042T>G (p.Leu1348Val) c.1836T>G c.2106T>G c.3919T>G (p.Leu1307Val) n.293T>G c.4075T>G (p.Leu1359Val) c.*140T>G (n.*140T>G) | |
| 12 | g.51786642T>A | CA384905092 | SCN8A | c.4043T>A (p.Leu1348Ter) c.1837T>A c.2107T>A c.3920T>A (p.Leu1307Ter) n.294T>A c.4076T>A (p.Leu1359Ter) c.*141T>A (n.*141T>A) | dbSNP |
| 12 | g.51786642T>C | CA384905095 | SCN8A | c.4043T>C (p.Leu1348Ser) c.1837T>C c.2107T>C c.3920T>C (p.Leu1307Ser) n.294T>C c.4076T>C (p.Leu1359Ser) c.*141T>C (n.*141T>C) | |
| 12 | g.51786642T>G | CA384905097 | SCN8A | c.4043T>G (p.Leu1348Trp) c.1837T>G c.2107T>G c.3920T>G (p.Leu1307Trp) n.294T>G c.4076T>G (p.Leu1359Trp) c.*141T>G (n.*141T>G) | |
| 12 | g.51786642T= | CA2036202798 | SCN8A | c.4043T= (p.Leu1348=) c.1837T= c.2107T= c.3920T= (p.Leu1307=) n.294T= c.4076T= (p.Leu1359=) c.*141T= (n.*141T=) | |
| 12 | g.51786643G>A | CA480061590 | SCN8A | c.4044G>A (p.Leu1348=) c.1838G>A c.2108G>A c.3921G>A (p.Leu1307=) n.295G>A c.4077G>A (p.Leu1359=) c.*142G>A (n.*142G>A) | |
| 12 | g.51786643G>C | CA384905099 | SCN8A | c.4044G>C (p.Leu1348Phe) c.1838G>C c.2108G>C c.3921G>C (p.Leu1307Phe) n.295G>C c.4077G>C (p.Leu1359Phe) c.*142G>C (n.*142G>C) | ClinVar |
| 12 | g.51786643G>T | CA384905102 | SCN8A | c.4044G>T (p.Leu1348Phe) c.1838G>T c.2108G>T c.3921G>T (p.Leu1307Phe) n.295G>T c.4077G>T (p.Leu1359Phe) c.*142G>T (n.*142G>T) | |
| 12 | g.51786644T>A | CA384905103 | SCN8A | c.4045T>A (p.Phe1349Ile) c.1839T>A c.2109T>A c.3922T>A (p.Phe1308Ile) n.296T>A c.4078T>A (p.Phe1360Ile) c.*143T>A (n.*143T>A) | |
| 12 | g.51786644T>C | CA384905104 | SCN8A | c.4045T>C (p.Phe1349Leu) c.1839T>C c.2109T>C c.3922T>C (p.Phe1308Leu) n.296T>C c.4078T>C (p.Phe1360Leu) c.*143T>C (n.*143T>C) | |
| 12 | g.51786644T>G | CA384905105 | SCN8A | c.4045T>G (p.Phe1349Val) c.1839T>G c.2109T>G c.3922T>G (p.Phe1308Val) n.296T>G c.4078T>G (p.Phe1360Val) c.*143T>G (n.*143T>G) | |
| 12 | g.51786645T>A | CA384905113 | SCN8A | c.4046T>A (p.Phe1349Tyr) c.1840T>A c.2110T>A c.3923T>A (p.Phe1308Tyr) n.297T>A c.4079T>A (p.Phe1360Tyr) c.*144T>A (n.*144T>A) | |
| 12 | g.51786645T>C | CA384905112 | SCN8A | c.4046T>C (p.Phe1349Ser) c.1840T>C c.2110T>C c.3923T>C (p.Phe1308Ser) n.297T>C c.4079T>C (p.Phe1360Ser) c.*144T>C (n.*144T>C) | |
| 12 | g.51786645T>G | CA384905110 | SCN8A | c.4046T>G (p.Phe1349Cys) c.1840T>G c.2110T>G c.3923T>G (p.Phe1308Cys) n.297T>G c.4079T>G (p.Phe1360Cys) c.*144T>G (n.*144T>G) | |
| 12 | g.51786646T>A | CA384905114 | SCN8A | c.4047T>A (p.Phe1349Leu) c.1841T>A c.2111T>A c.3924T>A (p.Phe1308Leu) n.298T>A c.4080T>A (p.Phe1360Leu) c.*145T>A (n.*145T>A) | |
| 12 | g.51786646T>C | CA480061596 | SCN8A | c.4047T>C (p.Phe1349=) c.1841T>C c.2111T>C c.3924T>C (p.Phe1308=) n.298T>C c.4080T>C (p.Phe1360=) c.*145T>C (n.*145T>C) | |
| 12 | g.51786646T>G | CA384905115 | SCN8A | c.4047T>G (p.Phe1349Leu) c.1841T>G c.2111T>G c.3924T>G (p.Phe1308Leu) n.298T>G c.4080T>G (p.Phe1360Leu) c.*145T>G (n.*145T>G) | |
| 12 | g.51786647G>A | CA384905124 | SCN8A | c.4048G>A (p.Ala1350Thr) c.1842G>A c.2112G>A c.3925G>A (p.Ala1309Thr) n.299G>A c.4081G>A (p.Ala1361Thr) c.*146G>A (n.*146G>A) | |
| 12 | g.51786647G>C | CA384905126 | SCN8A | c.4048G>C (p.Ala1350Pro) c.1842G>C c.2112G>C c.3925G>C (p.Ala1309Pro) n.299G>C c.4081G>C (p.Ala1361Pro) c.*146G>C (n.*146G>C) | |
| 12 | g.51786647G>T | CA384905127 | SCN8A | c.4048G>T (p.Ala1350Ser) c.1842G>T c.2112G>T c.3925G>T (p.Ala1309Ser) n.299G>T c.4081G>T (p.Ala1361Ser) c.*146G>T (n.*146G>T) | |
| 12 | g.51786648C>A | CA384905132 | SCN8A | c.4049C>A (p.Ala1350Glu) c.1843C>A c.2113C>A c.3926C>A (p.Ala1309Glu) n.300C>A c.4082C>A (p.Ala1361Glu) c.*147C>A (n.*147C>A) | |
| 12 | g.51786648C= | CA2036202799 | SCN8A | c.4049C= (p.Ala1350=) c.1843C= c.2113C= c.3926C= (p.Ala1309=) n.300C= c.4082C= (p.Ala1361=) c.*147C= (n.*147C=) | |
| 12 | g.51786648C>G | CA384905130 | SCN8A | c.4049C>G (p.Ala1350Gly) c.1843C>G c.2113C>G c.3926C>G (p.Ala1309Gly) n.300C>G c.4082C>G (p.Ala1361Gly) c.*147C>G (n.*147C>G) | |
| 12 | g.51786648C>T | CA384905128 | SCN8A | c.4049C>T (p.Ala1350Val) c.1843C>T c.2113C>T c.3926C>T (p.Ala1309Val) n.300C>T c.4082C>T (p.Ala1361Val) c.*147C>T (n.*147C>T) | ClinVar dbSNP |
| 12 | g.51786649G>A | CA480061600 | SCN8A | c.4050G>A (p.Ala1350=) c.1844G>A c.2114G>A c.3927G>A (p.Ala1309=) n.301G>A c.4083G>A (p.Ala1361=) c.*148G>A (n.*148G>A) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.51786649G>C | CA480061602 | SCN8A | c.4050G>C (p.Ala1350=) c.1844G>C c.2114G>C c.3927G>C (p.Ala1309=) n.301G>C c.4083G>C (p.Ala1361=) c.*148G>C (n.*148G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51786649G= | CA2036202800 | SCN8A | c.4050G= (p.Ala1350=) c.1844G= c.2114G= c.3927G= (p.Ala1309=) n.301G= c.4083G= (p.Ala1361=) c.*148G= (n.*148G=) | |
| 12 | g.51786649G>T | CA480061603 | SCN8A | c.4050G>T (p.Ala1350=) c.1844G>T c.2114G>T c.3927G>T (p.Ala1309=) n.301G>T c.4083G>T (p.Ala1361=) c.*148G>T (n.*148G>T) | |
| 12 | g.51786650G>A | CA384905133 | SCN8A | c.4051G>A (p.Gly1351Arg) c.1845G>A c.2115G>A c.3928G>A (p.Gly1310Arg) n.302G>A c.4084G>A (p.Gly1362Arg) c.*149G>A (n.*149G>A) | |
| 12 | g.51786650G>C | CA384905134 | SCN8A | c.4051G>C (p.Gly1351Arg) c.1845G>C c.2115G>C c.3928G>C (p.Gly1310Arg) n.302G>C c.4084G>C (p.Gly1362Arg) c.*149G>C (n.*149G>C) | |
| 12 | g.51786650G= | CA2036202801 | SCN8A | c.4051G= (p.Gly1351=) c.1845G= c.2115G= c.3928G= (p.Gly1310=) n.302G= c.4084G= (p.Gly1362=) c.*149G= (n.*149G=) | |
| 12 | g.51786650G>T | CA384905135 | SCN8A | c.4051G>T (p.Gly1351Ter) c.1845G>T c.2115G>T c.3928G>T (p.Gly1310Ter) n.302G>T c.4084G>T (p.Gly1362Ter) c.*149G>T (n.*149G>T) | dbSNP |
| 12 | g.51786651G>A | CA384905136 | SCN8A | c.4052G>A (p.Gly1351Glu) c.1846G>A c.2116G>A c.3929G>A (p.Gly1310Glu) n.303G>A c.4085G>A (p.Gly1362Glu) c.*150G>A (n.*150G>A) | |
| 12 | g.51786651G>C | CA384905139 | SCN8A | c.4052G>C (p.Gly1351Ala) c.1846G>C c.2116G>C c.3929G>C (p.Gly1310Ala) n.303G>C c.4085G>C (p.Gly1362Ala) c.*150G>C (n.*150G>C) | |
| 12 | g.51786651G>T | CA384905148 | SCN8A | c.4052G>T (p.Gly1351Val) c.1846G>T c.2116G>T c.3929G>T (p.Gly1310Val) n.303G>T c.4085G>T (p.Gly1362Val) c.*150G>T (n.*150G>T) | |
| 12 | g.51786652A>C | CA480061607 | SCN8A | c.4053A>C (p.Gly1351=) c.1847A>C c.2117A>C c.3930A>C (p.Gly1310=) n.304A>C c.4086A>C (p.Gly1362=) c.*151A>C (n.*151A>C) | |
| 12 | g.51786652A>G | CA480061608 | SCN8A | c.4053A>G (p.Gly1351=) c.1847A>G c.2117A>G c.3930A>G (p.Gly1310=) n.304A>G c.4086A>G (p.Gly1362=) c.*151A>G (n.*151A>G) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51786652A>T | CA480061609 | SCN8A | c.4053A>T (p.Gly1351=) c.1847A>T c.2117A>T c.3930A>T (p.Gly1310=) n.304A>T c.4086A>T (p.Gly1362=) c.*151A>T (n.*151A>T) | |
| 12 | g.51786653A= | CA2036202802 | SCN8A | c.4054A= (p.Lys1352=) c.1848A= c.2118A= c.3931A= (p.Lys1311=) n.305A= c.4087A= (p.Lys1363=) c.*152A= (n.*152A=) | |
| 12 | g.51786653A>C | CA384905157 | SCN8A | c.4054A>C (p.Lys1352Gln) c.1848A>C c.2118A>C c.3931A>C (p.Lys1311Gln) n.305A>C c.4087A>C (p.Lys1363Gln) c.*152A>C (n.*152A>C) | |
| 12 | g.51786653A>G | CA384905152 | SCN8A | c.4054A>G (p.Lys1352Glu) c.1848A>G c.2118A>G c.3931A>G (p.Lys1311Glu) n.305A>G c.4087A>G (p.Lys1363Glu) c.*152A>G (n.*152A>G) | |
| 12 | g.51786653A>T | CA384905154 | SCN8A | c.4054A>T (p.Lys1352Ter) c.1848A>T c.2118A>T c.3931A>T (p.Lys1311Ter) n.305A>T c.4087A>T (p.Lys1363Ter) c.*152A>T (n.*152A>T) | dbSNP |
| 12 | g.51786654A>C | CA384905165 | SCN8A | c.4055A>C (p.Lys1352Thr) c.1849A>C c.2119A>C c.3932A>C (p.Lys1311Thr) n.306A>C c.4088A>C (p.Lys1363Thr) c.*153A>C (n.*153A>C) | |
| 12 | g.51786654A>G | CA384905170 | SCN8A | c.4055A>G (p.Lys1352Arg) c.1849A>G c.2119A>G c.3932A>G (p.Lys1311Arg) n.306A>G c.4088A>G (p.Lys1363Arg) c.*153A>G (n.*153A>G) | |
| 12 | g.51786654A>T | CA384905187 | SCN8A | c.4055A>T (p.Lys1352Met) c.1849A>T c.2119A>T c.3932A>T (p.Lys1311Met) n.306A>T c.4088A>T (p.Lys1363Met) c.*153A>T (n.*153A>T) | |
| 12 | g.51786655G>A | CA480061612 | SCN8A | c.4056G>A (p.Lys1352=) c.1850G>A c.2120G>A c.3933G>A (p.Lys1311=) n.307G>A c.4089G>A (p.Lys1363=) c.*154G>A (n.*154G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51786655G>C | CA384905189 | SCN8A | c.4056G>C (p.Lys1352Asn) c.1850G>C c.2120G>C c.3933G>C (p.Lys1311Asn) n.307G>C c.4089G>C (p.Lys1363Asn) c.*154G>C (n.*154G>C) | |
| 12 | g.51786655G= | CA2036202803 | SCN8A | c.4056G= (p.Lys1352=) c.1850G= c.2120G= c.3933G= (p.Lys1311=) n.307G= c.4089G= (p.Lys1363=) c.*154G= (n.*154G=) | |
| 12 | g.51786655G>T | CA384905192 | SCN8A | c.4056G>T (p.Lys1352Asn) c.1850G>T c.2120G>T c.3933G>T (p.Lys1311Asn) n.307G>T c.4089G>T (p.Lys1363Asn) c.*154G>T (n.*154G>T) | |
| 12 | g.51786656T>A | CA384905212 | SCN8A | c.4057T>A (p.Tyr1353Asn) c.1851T>A c.2121T>A c.3934T>A (p.Tyr1312Asn) n.308T>A c.4090T>A (p.Tyr1364Asn) c.*155T>A (n.*155T>A) | |
| 12 | g.51786656T>C | CA384905222 | SCN8A | c.4057T>C (p.Tyr1353His) c.1851T>C c.2121T>C c.3934T>C (p.Tyr1312His) n.308T>C c.4090T>C (p.Tyr1364His) c.*155T>C (n.*155T>C) | |
| 12 | g.51786656T>G | CA384905224 | SCN8A | c.4057T>G (p.Tyr1353Asp) c.1851T>G c.2121T>G c.3934T>G (p.Tyr1312Asp) n.308T>G c.4090T>G (p.Tyr1364Asp) c.*155T>G (n.*155T>G) | COSMIC COSMIC |
| 12 | g.51786657A>C | CA384905229 | SCN8A | c.4058A>C (p.Tyr1353Ser) c.1852A>C c.2122A>C c.3935A>C (p.Tyr1312Ser) n.309A>C c.4091A>C (p.Tyr1364Ser) c.*156A>C (n.*156A>C) | |
| 12 | g.51786657A>G | CA384905240 | SCN8A | c.4058A>G (p.Tyr1353Cys) c.1852A>G c.2122A>G c.3935A>G (p.Tyr1312Cys) n.309A>G c.4091A>G (p.Tyr1364Cys) c.*156A>G (n.*156A>G) | |
| 12 | g.51786657A>T | CA384905241 | SCN8A | c.4058A>T (p.Tyr1353Phe) c.1852A>T c.2122A>T c.3935A>T (p.Tyr1312Phe) n.309A>T c.4091A>T (p.Tyr1364Phe) c.*156A>T (n.*156A>T) | |
| 12 | g.51786658C>A | CA384905244 | SCN8A | c.4059C>A (p.Tyr1353Ter) c.1853C>A c.2123C>A c.3936C>A (p.Tyr1312Ter) n.310C>A c.4092C>A (p.Tyr1364Ter) c.*157C>A (n.*157C>A) | |
| 12 | g.51786658C>G | CA384905245 | SCN8A | c.4059C>G (p.Tyr1353Ter) c.1853C>G c.2123C>G c.3936C>G (p.Tyr1312Ter) n.310C>G c.4092C>G (p.Tyr1364Ter) c.*157C>G (n.*157C>G) | |
| 12 | g.51786658C>T | CA480061619 | SCN8A | c.4059C>T (p.Tyr1353=) c.1853C>T c.2123C>T c.3936C>T (p.Tyr1312=) n.310C>T c.4092C>T (p.Tyr1364=) c.*157C>T (n.*157C>T) | |
| 12 | g.51786659C>A | CA384905247 | SCN8A | c.4060C>A (p.His1354Asn) c.1854C>A c.2124C>A c.3937C>A (p.His1313Asn) n.311C>A c.4093C>A (p.His1365Asn) c.*158C>A (n.*158C>A) | |
| 12 | g.51786659C= | CA2036202804 | SCN8A | c.4060C= (p.His1354=) c.1854C= c.2124C= c.3937C= (p.His1313=) n.311C= c.4093C= (p.His1365=) c.*158C= (n.*158C=) | |
| 12 | g.51786659C>G | CA384905252 | SCN8A | c.4060C>G (p.His1354Asp) c.1854C>G c.2124C>G c.3937C>G (p.His1313Asp) n.311C>G c.4093C>G (p.His1365Asp) c.*158C>G (n.*158C>G) | |
| 12 | g.51786659C>T | CA6571747 | SCN8A | c.4060C>T (p.His1354Tyr) c.1854C>T c.2124C>T c.3937C>T (p.His1313Tyr) n.311C>T c.4093C>T (p.His1365Tyr) c.*158C>T (n.*158C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51786660A= | CA2036202805 | SCN8A | c.4061A= (p.His1354=) c.1855A= c.2125A= c.3938A= (p.His1313=) n.312A= c.4094A= (p.His1365=) c.*159A= (n.*159A=) | |
| 12 | g.51786660A>C | CA384905256 | SCN8A | c.4061A>C (p.His1354Pro) c.1855A>C c.2125A>C c.3938A>C (p.His1313Pro) n.312A>C c.4094A>C (p.His1365Pro) c.*159A>C (n.*159A>C) | |
| 12 | g.51786660A>G | CA6571748 | SCN8A | c.4061A>G (p.His1354Arg) c.1855A>G c.2125A>G c.3938A>G (p.His1313Arg) n.312A>G c.4094A>G (p.His1365Arg) c.*159A>G (n.*159A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51786660A>T | CA384905269 | SCN8A | c.4061A>T (p.His1354Leu) c.1855A>T c.2125A>T c.3938A>T (p.His1313Leu) n.312A>T c.4094A>T (p.His1365Leu) c.*159A>T (n.*159A>T) | |
| 12 | g.51786661C>A | CA384905273 | SCN8A | c.4062C>A (p.His1354Gln) c.1856C>A c.2126C>A c.3939C>A (p.His1313Gln) n.313C>A c.4095C>A (p.His1365Gln) c.*160C>A (n.*160C>A) | gnomAD v4 |
| 12 | g.51786661C>G | CA384905276 | SCN8A | c.4062C>G (p.His1354Gln) c.1856C>G c.2126C>G c.3939C>G (p.His1313Gln) n.313C>G c.4095C>G (p.His1365Gln) c.*160C>G (n.*160C>G) | |
| 12 | g.51786661C>T | CA480061621 | SCN8A | c.4062C>T (p.His1354=) c.1856C>T c.2126C>T c.3939C>T (p.His1313=) n.313C>T c.4095C>T (p.His1365=) c.*160C>T (n.*160C>T) | |
| 12 | g.51786662T>A | CA384905281 | SCN8A | c.4063T>A (p.Tyr1355Asn) c.1857T>A c.2127T>A c.3940T>A (p.Tyr1314Asn) n.314T>A c.4096T>A (p.Tyr1366Asn) c.*161T>A (n.*161T>A) | |
| 12 | g.51786662T>C | CA384905294 | SCN8A | c.4063T>C (p.Tyr1355His) c.1857T>C c.2127T>C c.3940T>C (p.Tyr1314His) n.314T>C c.4096T>C (p.Tyr1366His) c.*161T>C (n.*161T>C) | |
| 12 | g.51786662T>G | CA384905298 | SCN8A | c.4063T>G (p.Tyr1355Asp) c.1857T>G c.2127T>G c.3940T>G (p.Tyr1314Asp) n.314T>G c.4096T>G (p.Tyr1366Asp) c.*161T>G (n.*161T>G) | |
| 12 | g.51786663del | CA2573053701 | SCN8A | c.4064del (p.Tyr1355SerfsTer?) c.1858del c.2128del c.3941del (p.Tyr1314SerfsTer?) n.315del c.4097del (p.Tyr1366SerfsTer?) c.*162del (n.*162del) | ClinVar dbSNP |
| 12 | g.51786663A= | CA2036202806 | SCN8A | c.4064A= (p.Tyr1355=) c.1858A= c.2128A= c.3941A= (p.Tyr1314=) n.315A= c.4097A= (p.Tyr1366=) c.*162A= (n.*162A=) | |
| 12 | g.51786663A>C | CA384905304 | SCN8A | c.4064A>C (p.Tyr1355Ser) c.1858A>C c.2128A>C c.3941A>C (p.Tyr1314Ser) n.315A>C c.4097A>C (p.Tyr1366Ser) c.*162A>C (n.*162A>C) | |
| 12 | g.51786663A>G | CA384905308 | SCN8A | c.4064A>G (p.Tyr1355Cys) c.1858A>G c.2128A>G c.3941A>G (p.Tyr1314Cys) n.315A>G c.4097A>G (p.Tyr1366Cys) c.*162A>G (n.*162A>G) | ClinVar dbSNP |
| 12 | g.51786663A>T | CA384905311 | SCN8A | c.4064A>T (p.Tyr1355Phe) c.1858A>T c.2128A>T c.3941A>T (p.Tyr1314Phe) n.315A>T c.4097A>T (p.Tyr1366Phe) c.*162A>T (n.*162A>T) | |
| 12 | g.51786664C>A | CA384905319 | SCN8A | c.4065C>A (p.Tyr1355Ter) c.1859C>A c.2129C>A c.3942C>A (p.Tyr1314Ter) n.316C>A c.4098C>A (p.Tyr1366Ter) c.*163C>A (n.*163C>A) | |
| 12 | g.51786664C>G | CA384905322 | SCN8A | c.4065C>G (p.Tyr1355Ter) c.1859C>G c.2129C>G c.3942C>G (p.Tyr1314Ter) n.316C>G c.4098C>G (p.Tyr1366Ter) c.*163C>G (n.*163C>G) | |
| 12 | g.51786664C>T | CA480061622 | SCN8A | c.4065C>T (p.Tyr1355=) c.1859C>T c.2129C>T c.3942C>T (p.Tyr1314=) n.316C>T c.4098C>T (p.Tyr1366=) c.*163C>T (n.*163C>T) | |
| 12 | g.51786665T>A | CA384905326 | SCN8A | c.4066T>A (p.Cys1356Ser) c.1860T>A c.2130T>A c.3943T>A (p.Cys1315Ser) n.317T>A c.4099T>A (p.Cys1367Ser) c.*164T>A (n.*164T>A) | |
| 12 | g.51786665T>C | CA384905333 | SCN8A | c.4066T>C (p.Cys1356Arg) c.1860T>C c.2130T>C c.3943T>C (p.Cys1315Arg) n.317T>C c.4099T>C (p.Cys1367Arg) c.*164T>C (n.*164T>C) | |
| 12 | g.51786665T>G | CA384905330 | SCN8A | c.4066T>G (p.Cys1356Gly) c.1860T>G c.2130T>G c.3943T>G (p.Cys1315Gly) n.317T>G c.4099T>G (p.Cys1367Gly) c.*164T>G (n.*164T>G) | |
| 12 | g.51786666G>A | CA384905336 | SCN8A | c.4067G>A (p.Cys1356Tyr) c.1861G>A c.2131G>A c.3944G>A (p.Cys1315Tyr) n.318G>A c.4100G>A (p.Cys1367Tyr) c.*165G>A (n.*165G>A) | |
| 12 | g.51786666G>C | CA384905346 | SCN8A | c.4067G>C (p.Cys1356Ser) c.1861G>C c.2131G>C c.3944G>C (p.Cys1315Ser) n.318G>C c.4100G>C (p.Cys1367Ser) c.*165G>C (n.*165G>C) | |
| 12 | g.51786666G= | CA2036202807 | SCN8A | c.4067G= (p.Cys1356=) c.1861G= c.2131G= c.3944G= (p.Cys1315=) n.318G= c.4100G= (p.Cys1367=) c.*165G= (n.*165G=) | |
| 12 | g.51786666G>T | CA384905355 | SCN8A | c.4067G>T (p.Cys1356Phe) c.1861G>T c.2131G>T c.3944G>T (p.Cys1315Phe) n.318G>T c.4100G>T (p.Cys1367Phe) c.*165G>T (n.*165G>T) | dbSNP |
| 12 | g.51786667C>A | CA384905358 | SCN8A | c.4068C>A (p.Cys1356Ter) c.1862C>A c.2132C>A c.3945C>A (p.Cys1315Ter) n.319C>A c.4101C>A (p.Cys1367Ter) c.*166C>A (n.*166C>A) | dbSNP |
| 12 | g.51786667C= | CA2036202808 | SCN8A | c.4068C= (p.Cys1356=) c.1862C= c.2132C= c.3945C= (p.Cys1315=) n.319C= c.4101C= (p.Cys1367=) c.*166C= (n.*166C=) | |
| 12 | g.51786667C>G | CA384905359 | SCN8A | c.4068C>G (p.Cys1356Trp) c.1862C>G c.2132C>G c.3945C>G (p.Cys1315Trp) n.319C>G c.4101C>G (p.Cys1367Trp) c.*166C>G (n.*166C>G) | |
| 12 | g.51786667C>T | CA480061628 | SCN8A | c.4068C>T (p.Cys1356=) c.1862C>T c.2132C>T c.3945C>T (p.Cys1315=) n.319C>T c.4101C>T (p.Cys1367=) c.*166C>T (n.*166C>T) | ClinVar dbSNP gnomAD v2 |
| 12 | g.51786668T>A | CA384905360 | SCN8A | c.4069T>A (p.Phe1357Ile) c.1863T>A c.2133T>A c.3946T>A (p.Phe1316Ile) n.320T>A c.4102T>A (p.Phe1368Ile) c.*167T>A (n.*167T>A) | |
| 12 | g.51786668T>C | CA384905361 | SCN8A | c.4069T>C (p.Phe1357Leu) c.1863T>C c.2133T>C c.3946T>C (p.Phe1316Leu) n.320T>C c.4102T>C (p.Phe1368Leu) c.*167T>C (n.*167T>C) | |
| 12 | g.51786668T>G | CA384905362 | SCN8A | c.4069T>G (p.Phe1357Val) c.1863T>G c.2133T>G c.3946T>G (p.Phe1316Val) n.320T>G c.4102T>G (p.Phe1368Val) c.*167T>G (n.*167T>G) | |
| 12 | g.51786669T>A | CA384905365 | SCN8A | c.4070T>A (p.Phe1357Tyr) c.1864T>A c.2134T>A c.3947T>A (p.Phe1316Tyr) n.321T>A c.4103T>A (p.Phe1368Tyr) c.*168T>A (n.*168T>A) | |
| 12 | g.51786669T>C | CA384905368 | SCN8A | c.4070T>C (p.Phe1357Ser) c.1864T>C c.2134T>C c.3947T>C (p.Phe1316Ser) n.321T>C c.4103T>C (p.Phe1368Ser) c.*168T>C (n.*168T>C) | |
| 12 | g.51786669T>G | CA384905372 | SCN8A | c.4070T>G (p.Phe1357Cys) c.1864T>G c.2134T>G c.3947T>G (p.Phe1316Cys) n.321T>G c.4103T>G (p.Phe1368Cys) c.*168T>G (n.*168T>G) | |
| 12 | g.51786670T>A | CA384905382 | SCN8A | c.4071T>A (p.Phe1357Leu) c.1865T>A c.2135T>A c.3948T>A (p.Phe1316Leu) n.322T>A c.4104T>A (p.Phe1368Leu) c.*169T>A (n.*169T>A) | |
| 12 | g.51786670T>C | CA480061631 | SCN8A | c.4071T>C (p.Phe1357=) c.1865T>C c.2135T>C c.3948T>C (p.Phe1316=) n.322T>C c.4104T>C (p.Phe1368=) c.*169T>C (n.*169T>C) | gnomAD v4 |
| 12 | g.51786670T>G | CA384905384 | SCN8A | c.4071T>G (p.Phe1357Leu) c.1865T>G c.2135T>G c.3948T>G (p.Phe1316Leu) n.322T>G c.4104T>G (p.Phe1368Leu) c.*169T>G (n.*169T>G) | |
| 12 | g.51786671A>C | CA384905390 | SCN8A | c.4072A>C (p.Asn1358His) c.1866A>C c.2136A>C c.3949A>C (p.Asn1317His) n.323A>C c.4105A>C (p.Asn1369His) c.*170A>C (n.*170A>C) | |
| 12 | g.51786671A>G | CA384905392 | SCN8A | c.4072A>G (p.Asn1358Asp) c.1866A>G c.2136A>G c.3949A>G (p.Asn1317Asp) n.323A>G c.4105A>G (p.Asn1369Asp) c.*170A>G (n.*170A>G) | |
| 12 | g.51786671A>T | CA384905391 | SCN8A | c.4072A>T (p.Asn1358Tyr) c.1866A>T c.2136A>T c.3949A>T (p.Asn1317Tyr) n.323A>T c.4105A>T (p.Asn1369Tyr) c.*170A>T (n.*170A>T) | |
| 12 | g.51786672A>C | CA384905395 | SCN8A | c.4073A>C (p.Asn1358Thr) c.1867A>C c.2137A>C c.3950A>C (p.Asn1317Thr) n.324A>C c.4106A>C (p.Asn1369Thr) c.*171A>C (n.*171A>C) | |
| 12 | g.51786672A>G | CA384905403 | SCN8A | c.4073A>G (p.Asn1358Ser) c.1867A>G c.2137A>G c.3950A>G (p.Asn1317Ser) n.324A>G c.4106A>G (p.Asn1369Ser) c.*171A>G (n.*171A>G) | |
| 12 | g.51786672A>T | CA384905400 | SCN8A | c.4073A>T (p.Asn1358Ile) c.1867A>T c.2137A>T c.3950A>T (p.Asn1317Ile) n.324A>T c.4106A>T (p.Asn1369Ile) c.*171A>T (n.*171A>T) | |
| 12 | g.51786673T>A | CA384905406 | SCN8A | c.4074T>A (p.Asn1358Lys) c.1868T>A c.2138T>A c.3951T>A (p.Asn1317Lys) n.325T>A c.4107T>A (p.Asn1369Lys) c.*172T>A (n.*172T>A) | |
| 12 | g.51786673T>C | CA480061635 | SCN8A | c.4074T>C (p.Asn1358=) c.1868T>C c.2138T>C c.3951T>C (p.Asn1317=) n.325T>C c.4107T>C (p.Asn1369=) c.*172T>C (n.*172T>C) | |
| 12 | g.51786673T>G | CA384905407 | SCN8A | c.4074T>G (p.Asn1358Lys) c.1868T>G c.2138T>G c.3951T>G (p.Asn1317Lys) n.325T>G c.4107T>G (p.Asn1369Lys) c.*172T>G (n.*172T>G) | |
| 12 | g.51786674G>A | CA384905411 | SCN8A | c.4075G>A (p.Glu1359Lys) c.1869G>A c.2139G>A c.3952G>A (p.Glu1318Lys) n.326G>A c.4108G>A (p.Glu1370Lys) c.*173G>A (n.*173G>A) | gnomAD v4 |
| 12 | g.51786674G>C | CA384905413 | SCN8A | c.4075G>C (p.Glu1359Gln) c.1869G>C c.2139G>C c.3952G>C (p.Glu1318Gln) n.326G>C c.4108G>C (p.Glu1370Gln) c.*173G>C (n.*173G>C) | |
| 12 | g.51786674G= | CA2036202809 | SCN8A | c.4075G= (p.Glu1359=) c.1869G= c.2139G= c.3952G= (p.Glu1318=) n.326G= c.4108G= (p.Glu1370=) c.*173G= (n.*173G=) | |
| 12 | g.51786674G>T | CA384905416 | SCN8A | c.4075G>T (p.Glu1359Ter) c.1869G>T c.2139G>T c.3952G>T (p.Glu1318Ter) n.326G>T c.4108G>T (p.Glu1370Ter) c.*173G>T (n.*173G>T) | dbSNP |
| 12 | g.51786675A>C | CA384905419 | SCN8A | c.4076A>C (p.Glu1359Ala) c.1870A>C c.2140A>C c.3953A>C (p.Glu1318Ala) n.327A>C c.4109A>C (p.Glu1370Ala) c.*174A>C (n.*174A>C) | |
| 12 | g.51786675A>G | CA384905422 | SCN8A | c.4076A>G (p.Glu1359Gly) c.1870A>G c.2140A>G c.3953A>G (p.Glu1318Gly) n.327A>G c.4109A>G (p.Glu1370Gly) c.*174A>G (n.*174A>G) | |
| 12 | g.51786675A>T | CA384905424 | SCN8A | c.4076A>T (p.Glu1359Val) c.1870A>T c.2140A>T c.3953A>T (p.Glu1318Val) n.327A>T c.4109A>T (p.Glu1370Val) c.*174A>T (n.*174A>T) | |
| 12 | g.51786676_51786737del | CA2563027883 | SCN8A | c.4077_4138del (p.Glu1359AspfsTer18) c.1871_1932del c.2141_2202del c.3954_4015del (p.Glu1318AspfsTer18) n.328_389del c.4110_4171del (p.Glu1370AspfsTer18) c.*175_*236del (n.*175_*236del) | |
| 12 | g.51786676G>A | CA480061637 | SCN8A | c.4077G>A (p.Glu1359=) c.1871G>A c.2141G>A c.3954G>A (p.Glu1318=) n.328G>A c.4110G>A (p.Glu1370=) c.*175G>A (n.*175G>A) | |
| 12 | g.51786676G>C | CA384905430 | SCN8A | c.4077G>C (p.Glu1359Asp) c.1871G>C c.2141G>C c.3954G>C (p.Glu1318Asp) n.328G>C c.4110G>C (p.Glu1370Asp) c.*175G>C (n.*175G>C) | |
| 12 | g.51786676G>T | CA384905432 | SCN8A | c.4077G>T (p.Glu1359Asp) c.1871G>T c.2141G>T c.3954G>T (p.Glu1318Asp) n.328G>T c.4110G>T (p.Glu1370Asp) c.*175G>T (n.*175G>T) | |
| 12 | g.51786677A= | CA2036202810 | SCN8A | c.4078A= (p.Thr1360=) c.1872A= c.2142A= c.3955A= (p.Thr1319=) n.329A= c.4111A= (p.Thr1371=) c.*176A= (n.*176A=) | |
| 12 | g.51786677A>C | CA384905436 | SCN8A | c.4078A>C (p.Thr1360Pro) c.1872A>C c.2142A>C c.3955A>C (p.Thr1319Pro) n.329A>C c.4111A>C (p.Thr1371Pro) c.*176A>C (n.*176A>C) | |
| 12 | g.51786677A>G | CA384905438 | SCN8A | c.4078A>G (p.Thr1360Ala) c.1872A>G c.2142A>G c.3955A>G (p.Thr1319Ala) n.329A>G c.4111A>G (p.Thr1371Ala) c.*176A>G (n.*176A>G) | |
| 12 | g.51786677A>T | CA318274 | SCN8A | c.4078A>T (p.Thr1360Ser) c.1872A>T c.2142A>T c.3955A>T (p.Thr1319Ser) n.329A>T c.4111A>T (p.Thr1371Ser) c.*176A>T (n.*176A>T) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51786678C>A | CA384905457 | SCN8A | c.4079C>A (p.Thr1360Asn) c.1873C>A c.2143C>A c.3956C>A (p.Thr1319Asn) n.330C>A c.4112C>A (p.Thr1371Asn) c.*177C>A (n.*177C>A) | ClinVar dbSNP |
| 12 | g.51786678C>G | CA384905454 | SCN8A | c.4079C>G (p.Thr1360Ser) c.1873C>G c.2143C>G c.3956C>G (p.Thr1319Ser) n.330C>G c.4112C>G (p.Thr1371Ser) c.*177C>G (n.*177C>G) | |
| 12 | g.51786678C>T | CA384905442 | SCN8A | c.4079C>T (p.Thr1360Ile) c.1873C>T c.2143C>T c.3956C>T (p.Thr1319Ile) n.330C>T c.4112C>T (p.Thr1371Ile) c.*177C>T (n.*177C>T) | |
| 12 | g.51786679T>A | CA480061638 | SCN8A | c.4080T>A (p.Thr1360=) c.1874T>A c.2144T>A c.3957T>A (p.Thr1319=) n.331T>A c.4113T>A (p.Thr1371=) c.*178T>A (n.*178T>A) | |
| 12 | g.51786679T>C | CA480061639 | SCN8A | c.4080T>C (p.Thr1360=) c.1874T>C c.2144T>C c.3957T>C (p.Thr1319=) n.331T>C c.4113T>C (p.Thr1371=) c.*178T>C (n.*178T>C) | |
| 12 | g.51786679T>G | CA480061641 | SCN8A | c.4080T>G (p.Thr1360=) c.1874T>G c.2144T>G c.3957T>G (p.Thr1319=) n.331T>G c.4113T>G (p.Thr1371=) c.*178T>G (n.*178T>G) | |
| 12 | g.51786680T>A | CA384905464 | SCN8A | c.4081T>A (p.Ser1361Thr) c.1875T>A c.2145T>A c.3958T>A (p.Ser1320Thr) n.332T>A c.4114T>A (p.Ser1372Thr) c.*179T>A (n.*179T>A) | |
| 12 | g.51786680T>C | CA384905467 | SCN8A | c.4081T>C (p.Ser1361Pro) c.1875T>C c.2145T>C c.3958T>C (p.Ser1320Pro) n.332T>C c.4114T>C (p.Ser1372Pro) c.*179T>C (n.*179T>C) | |
| 12 | g.51786680T>G | CA384905469 | SCN8A | c.4081T>G (p.Ser1361Ala) c.1875T>G c.2145T>G c.3958T>G (p.Ser1320Ala) n.332T>G c.4114T>G (p.Ser1372Ala) c.*179T>G (n.*179T>G) | |
| 12 | g.51786681C>A | CA384905475 | SCN8A | c.4082C>A (p.Ser1361Tyr) c.1876C>A c.2146C>A c.3959C>A (p.Ser1320Tyr) n.333C>A c.4115C>A (p.Ser1372Tyr) c.*180C>A (n.*180C>A) | |
| 12 | g.51786681C>G | CA384905483 | SCN8A | c.4082C>G (p.Ser1361Cys) c.1876C>G c.2146C>G c.3959C>G (p.Ser1320Cys) n.333C>G c.4115C>G (p.Ser1372Cys) c.*180C>G (n.*180C>G) | ClinVar |
| 12 | g.51786681C>T | CA384905487 | SCN8A | c.4082C>T (p.Ser1361Phe) c.1876C>T c.2146C>T c.3959C>T (p.Ser1320Phe) n.333C>T c.4115C>T (p.Ser1372Phe) c.*180C>T (n.*180C>T) | COSMIC COSMIC |
| 12 | g.51786682T>A | CA480061642 | SCN8A | c.4083T>A (p.Ser1361=) c.1877T>A c.2147T>A c.3960T>A (p.Ser1320=) n.334T>A c.4116T>A (p.Ser1372=) c.*181T>A (n.*181T>A) | |
| 12 | g.51786682T>C | CA480061643 | SCN8A | c.4083T>C (p.Ser1361=) c.1877T>C c.2147T>C c.3960T>C (p.Ser1320=) n.334T>C c.4116T>C (p.Ser1372=) c.*181T>C (n.*181T>C) | dbSNP |
| 12 | g.51786682T>G | CA480061644 | SCN8A | c.4083T>G (p.Ser1361=) c.1877T>G c.2147T>G c.3960T>G (p.Ser1320=) n.334T>G c.4116T>G (p.Ser1372=) c.*181T>G (n.*181T>G) | |
| 12 | g.51786683G>A | CA384905492 | SCN8A | c.4084G>A (p.Glu1362Lys) c.1878G>A c.2148G>A c.3961G>A (p.Glu1321Lys) n.335G>A c.4117G>A (p.Glu1373Lys) c.*182G>A (n.*182G>A) | |
| 12 | g.51786683G>C | CA384905496 | SCN8A | c.4084G>C (p.Glu1362Gln) c.1878G>C c.2148G>C c.3961G>C (p.Glu1321Gln) n.335G>C c.4117G>C (p.Glu1373Gln) c.*182G>C (n.*182G>C) | |
| 12 | g.51786683G= | CA2036202811 | SCN8A | c.4084G= (p.Glu1362=) c.1878G= c.2148G= c.3961G= (p.Glu1321=) n.335G= c.4117G= (p.Glu1373=) c.*182G= (n.*182G=) | |
| 12 | g.51786683G>T | CA384905499 | SCN8A | c.4084G>T (p.Glu1362Ter) c.1878G>T c.2148G>T c.3961G>T (p.Glu1321Ter) n.335G>T c.4117G>T (p.Glu1373Ter) c.*182G>T (n.*182G>T) | dbSNP |
| 12 | g.51786684A>C | CA384905500 | SCN8A | c.4085A>C (p.Glu1362Ala) c.1879A>C c.2149A>C c.3962A>C (p.Glu1321Ala) n.336A>C c.4118A>C (p.Glu1373Ala) c.*183A>C (n.*183A>C) | |
| 12 | g.51786684A>G | CA384905501 | SCN8A | c.4085A>G (p.Glu1362Gly) c.1879A>G c.2149A>G c.3962A>G (p.Glu1321Gly) n.336A>G c.4118A>G (p.Glu1373Gly) c.*183A>G (n.*183A>G) | |
| 12 | g.51786684A>T | CA384905505 | SCN8A | c.4085A>T (p.Glu1362Val) c.1879A>T c.2149A>T c.3962A>T (p.Glu1321Val) n.336A>T c.4118A>T (p.Glu1373Val) c.*183A>T (n.*183A>T) |