| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63439599G>A | CA10654807 | KCNQ2 | c.926C>T (p.Ala309Val) n.664C>T c.407C>T (p.Ala136Val) c.584C>T (p.Ala195Val) n.1052C>T c.291C>T c.70C>T c.429C>T (p.Cys143=) n.751C>T c.800C>T (p.Ala267Val) c.857C>T (p.Ala286Val) | ClinVar dbSNP |
| 20 | g.63439599G= | CA2374791924 | KCNQ2 | c.926C= (p.Ala309=) n.664C= c.407C= (p.Ala136=) c.584C= (p.Ala195=) n.1052C= c.291C= c.70C= c.429C= (p.Cys143=) n.751C= c.800C= (p.Ala267=) c.857C= (p.Ala286=) | dbSNP |