| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51790401G>T | CA384909008 | SCN8A | c.4423G>T (p.Gly1475Ter) c.2487G>T c.4300G>T (p.Gly1434Ter) c.4456G>T (p.Gly1486Ter) | dbSNP |
| 12 | g.51790401G>C | CA384909007 | SCN8A | c.4423G>C (p.Gly1475Arg) c.2487G>C c.4300G>C (p.Gly1434Arg) c.4456G>C (p.Gly1486Arg) | ClinVar dbSNP |
| 12 | g.51790401G>A | CA318276 | SCN8A | c.4423G>A (p.Gly1475Arg) c.2487G>A c.4300G>A (p.Gly1434Arg) c.4456G>A (p.Gly1486Arg) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |