| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63444706C>T | CA10654823 | KCNQ2 | c.643G>A (p.Gly215Arg) n.381G>A n.37G>A c.124G>A (p.Gly42Arg) c.301G>A (p.Gly101Arg) n.769G>A n.485G>A c.8G>A c.64G>A (p.Gly22Arg) n.468G>A c.574G>A (p.Gly192Arg) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 20 | g.63444706C= | CA2374795919 | KCNQ2 | c.643G= (p.Gly215=) n.381G= n.37G= c.124G= (p.Gly42=) c.301G= (p.Gly101=) n.769G= n.485G= c.8G= c.64G= (p.Gly22=) n.468G= c.574G= (p.Gly192=) | dbSNP |
| 20 | g.63444706C>A | CA409654731 | KCNQ2 | c.643G>T (p.Gly215Ter) n.381G>T n.37G>T c.124G>T (p.Gly42Ter) c.301G>T (p.Gly101Ter) n.769G>T n.485G>T c.8G>T c.64G>T (p.Gly22Ter) n.468G>T c.574G>T (p.Gly192Ter) | dbSNP gnomAD v4 |