| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63439683C>T | CA16620971 | KCNQ2 | c.842G>A (p.Gly281Glu) n.580G>A c.323G>A (p.Gly108Glu) c.500G>A (p.Gly167Glu) n.968G>A c.207G>A c.345G>A (p.Arg115=) n.667G>A c.716G>A (p.Gly239Glu) c.773G>A (p.Gly258Glu) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
| 20 | g.63439683C= | CA2374791976 | KCNQ2 | c.842G= (p.Gly281=) n.580G= c.323G= (p.Gly108=) c.500G= (p.Gly167=) n.968G= c.207G= c.345G= (p.Arg115=) n.667G= c.716G= (p.Gly239=) c.773G= (p.Gly258=) | dbSNP |