| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51751510A>G | CA240328 | SCN8A | c.2287A>G (p.Ile763Val) c.134A>G c.291A>G n.2415A>G c.2320A>G (p.Ile774Val) | ClinVar dbSNP |
| 12 | g.51751510A= | CA2036196286 | SCN8A | c.2287A= (p.Ile763=) c.134A= c.291A= n.2415A= c.2320A= (p.Ile774=) | dbSNP |