| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51768895A>G | CA16044327 | SCN8A | c.2932A>G (p.Ser978Gly) c.779A>G c.996A>G c.2965A>G (p.Ser989Gly) | ClinVar dbSNP |
| 12 | g.51768895A= | CA2036187676 | SCN8A | c.2932A= (p.Ser978=) c.779A= c.996A= c.2965A= (p.Ser989=) | dbSNP |