| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51762666C>T | CA318256 | SCN8A | c.2534C>T (p.Ser845Phe) c.381C>T c.538C>T n.2662C>T c.2567C>T (p.Ser856Phe) | ClinVar dbSNP |
| 12 | g.51762666C= | CA2036180544 | SCN8A | c.2534C= (p.Ser845=) c.381C= c.538C= n.2662C= c.2567C= (p.Ser856=) | dbSNP |
| 12 | g.51762666C>G | CA384884778 | SCN8A | c.2534C>G (p.Ser845Cys) c.381C>G c.538C>G n.2662C>G c.2567C>G (p.Ser856Cys) | ClinVar dbSNP |