| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51687102C>T | CA16606307 | SCN8A | n.726C>T c.497C>T (p.Thr166Ile) n.625C>T c.47C>T (p.Thr16Ile) | ClinVar dbSNP |
| 12 | g.51687102C= | CA2036158823 | SCN8A | n.726C= c.497C= (p.Thr166=) n.625C= c.47C= (p.Thr16=) | dbSNP |