| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51806399G>A | CA16619564 | SCN8A | c.4913G>A (p.Arg1638His) c.2977G>A c.4790G>A (p.Arg1597His) c.4946G>A (p.Arg1649His) | ClinVar dbSNP |
| 12 | g.51806399G= | CA2036193011 | SCN8A | c.4913G= (p.Arg1638=) c.2977G= c.4790G= (p.Arg1597=) c.4946G= (p.Arg1649=) | dbSNP |