| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63439624C>T | CA10654809 | KCNQ2 | c.901G>A (p.Gly301Ser) n.639G>A c.382G>A (p.Gly128Ser) c.559G>A (p.Gly187Ser) n.1027G>A c.266G>A c.45G>A c.404G>A (p.Arg135Gln) n.726G>A c.775G>A (p.Gly259Ser) c.832G>A (p.Gly278Ser) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
| 20 | g.63439624C= | CA2374791939 | KCNQ2 | c.901G= (p.Gly301=) n.639G= c.382G= (p.Gly128=) c.559G= (p.Gly187=) n.1027G= c.266G= c.45G= c.404G= (p.Arg135=) n.726G= c.775G= (p.Gly259=) c.832G= (p.Gly278=) | dbSNP |