| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63439690C>A | CA10654814 | KCNQ2 | c.835G>T (p.Gly279Cys) n.573G>T c.316G>T (p.Gly106Cys) c.493G>T (p.Gly165Cys) n.961G>T c.200G>T c.338G>T (p.Trp113Leu) n.660G>T c.709G>T (p.Gly237Cys) c.766G>T (p.Gly256Cys) | ClinVar dbSNP |
| 20 | g.63439690C= | CA2374791981 | KCNQ2 | c.835G= (p.Gly279=) n.573G= c.316G= (p.Gly106=) c.493G= (p.Gly165=) n.961G= c.200G= c.338G= (p.Trp113=) n.660G= c.709G= (p.Gly237=) c.766G= (p.Gly256=) | dbSNP |
| 20 | g.63439690C>T | CA409652718 | KCNQ2 | c.835G>A (p.Gly279Ser) n.573G>A c.316G>A (p.Gly106Ser) c.493G>A (p.Gly165Ser) n.961G>A c.200G>A c.338G>A (p.Trp113Ter) n.660G>A c.709G>A (p.Gly237Ser) c.766G>A (p.Gly256Ser) | ClinVar dbSNP COSMIC |