| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51790413A>C | CA384909033 | SCN8A | c.4435A>C (p.Ile1479Leu) c.2499A>C c.4312A>C (p.Ile1438Leu) c.4468A>C (p.Ile1490Leu) | ClinVar dbSNP |
| 12 | g.51790413A>G | CA318278 | SCN8A | c.4435A>G (p.Ile1479Val) c.2499A>G c.4312A>G (p.Ile1438Val) c.4468A>G (p.Ile1490Val) | ClinVar dbSNP |