| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51790479C>A | CA16603287 | SCN8A | c.4501C>A (p.Gln1501Lys) c.2565C>A c.4378C>A (p.Gln1460Lys) c.4534C>A (p.Gln1512Lys) | ClinVar dbSNP |
| 12 | g.51790479C>T | CA384909186 | SCN8A | c.4501C>T (p.Gln1501Ter) c.2565C>T c.4378C>T (p.Gln1460Ter) c.4534C>T (p.Gln1512Ter) | ClinVar dbSNP |