| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51765746G>A | CA384887219 | SCN8A | c.2620G>A (p.Ala874Thr) c.467G>A c.624G>A n.2748G>A c.2653G>A (p.Ala885Thr) | ClinVar dbSNP |
| 12 | g.51765746G>T | CA16607341 | SCN8A | c.2620G>T (p.Ala874Ser) c.467G>T c.624G>T n.2748G>T c.2653G>T (p.Ala885Ser) | ClinVar dbSNP |