| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51806336G>A | CA170757 | SCN8A | c.4850G>A (p.Arg1617Gln) c.2914G>A c.4727G>A (p.Arg1576Gln) c.4883G>A (p.Arg1628Gln) | ClinVar dbSNP |
| 12 | g.51806336G>T | CA384880375 | SCN8A | c.4850G>T (p.Arg1617Leu) c.2914G>T c.4727G>T (p.Arg1576Leu) c.4883G>T (p.Arg1628Leu) | ClinVar dbSNP |
| 12 | g.51806336G= | CA2036192779 | SCN8A | c.4850G= (p.Arg1617=) c.2914G= c.4727G= (p.Arg1576=) c.4883G= (p.Arg1628=) | dbSNP |