| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51766016G>C | CA16607342 | SCN8A | c.2890G>C (p.Gly964Arg) c.737G>C c.894G>C n.3018G>C c.2923G>C (p.Gly975Arg) | ClinVar dbSNP |
| 12 | g.51766016G= | CA2036184348 | SCN8A | c.2890G= (p.Gly964=) c.737G= c.894G= n.3018G= c.2923G= (p.Gly975=) | dbSNP |