| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51699632C>G | CA16619558 | SCN8A | c.769C>G (p.Leu257Val) c.*1207C>G (n.*1207C>G) n.897C>G c.319C>G (p.Leu107Val) | ClinVar dbSNP |
| 12 | g.51699632C= | CA2036163808 | SCN8A | c.769C= (p.Leu257=) c.*1207C= (n.*1207C=) n.897C= c.319C= (p.Leu107=) | dbSNP |