| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51786554G>T | CA318272 | SCN8A | c.3955G>T (p.Ala1319Ser) c.1749G>T c.2019G>T c.3832G>T (p.Ala1278Ser) n.206G>T c.3988G>T (p.Ala1330Ser) c.*53G>T (n.*53G>T) | ClinVar dbSNP |
| 12 | g.51786554G= | CA2036202772 | SCN8A | c.3955G= (p.Ala1319=) c.1749G= c.2019G= c.3832G= (p.Ala1278=) n.206G= c.3988G= (p.Ala1330=) c.*53G= (n.*53G=) | dbSNP |