| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51806422A>T | CA318290 | SCN8A | c.4936A>T (p.Met1646Leu) c.3000A>T c.4813A>T (p.Met1605Leu) c.4969A>T (p.Met1657Leu) | ClinVar dbSNP |
| 12 | g.51806422A= | CA2036193043 | SCN8A | c.4936A= (p.Met1646=) c.3000A= c.4813A= (p.Met1605=) c.4969A= (p.Met1657=) | dbSNP |