| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63445276C>A | CA409655208 | KCNQ2 | c.476G>T (p.Gly159Val) n.214G>T c.-44G>T (n.-44G>T) c.134G>T (p.Gly45Val) n.602G>T n.318G>T n.301G>T c.407G>T (p.Gly136Val) | ClinVar dbSNP |
| 20 | g.63445276C>T | CA10654830 | KCNQ2 | c.476G>A (p.Gly159Glu) n.214G>A c.-44G>A (n.-44G>A) c.134G>A (p.Gly45Glu) n.602G>A n.318G>A n.301G>A c.407G>A (p.Gly136Glu) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |