| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51789410A>T | CA384908604 | SCN8A | c.4411A>T (p.Lys1471Ter) c.2475A>T c.4288A>T (p.Lys1430Ter) c.4444A>T (p.Lys1482Ter) | dbSNP |
| 12 | g.51789410A>C | CA16606653 | SCN8A | c.4411A>C (p.Lys1471Gln) c.2475A>C c.4288A>C (p.Lys1430Gln) c.4444A>C (p.Lys1482Gln) | ClinVar dbSNP |