| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51762657T>A | CA384884736 | SCN8A | c.2525T>A (p.Val842Glu) c.372T>A c.529T>A n.2653T>A c.2558T>A (p.Val853Glu) | ClinVar dbSNP |
| 12 | g.51762657T= | CA2036180494 | SCN8A | c.2525T= (p.Val842=) c.372T= c.529T= n.2653T= c.2558T= (p.Val853=) | dbSNP |