| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51786590C>G | CA144634 | SCN8A | c.3991C>G (p.Leu1331Val) c.1785C>G c.2055C>G c.3868C>G (p.Leu1290Val) n.242C>G c.4024C>G (p.Leu1342Val) c.*89C>G (n.*89C>G) | ClinVar dbSNP |
| 12 | g.51786590C= | CA2036202786 | SCN8A | c.3991C= (p.Leu1331=) c.1785C= c.2055C= c.3868C= (p.Leu1290=) n.242C= c.4024C= (p.Leu1342=) c.*89C= (n.*89C=) | dbSNP |