| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51806435C>T | CA318292 | SCN8A | c.4949C>T (p.Ala1650Val) c.3013C>T c.4826C>T (p.Ala1609Val) c.4982C>T (p.Ala1661Val) | ClinVar dbSNP |
| 12 | g.51806435C>A | CA384880650 | SCN8A | c.4949C>A (p.Ala1650Asp) c.3013C>A c.4826C>A (p.Ala1609Asp) c.4982C>A (p.Ala1661Asp) | ClinVar dbSNP |