| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63439644G>C | CA342537 | KCNQ2 | c.881C>G (p.Ala294Gly) n.619C>G c.362C>G (p.Ala121Gly) c.539C>G (p.Ala180Gly) n.1007C>G c.246C>G c.25C>G c.384C>G (p.Cys128Trp) n.706C>G c.755C>G (p.Ala252Gly) c.812C>G (p.Ala271Gly) | ClinVar dbSNP |
| 20 | g.63439644G>A | CA278571 | KCNQ2 | c.881C>T (p.Ala294Val) n.619C>T c.362C>T (p.Ala121Val) c.539C>T (p.Ala180Val) n.1007C>T c.246C>T c.25C>T c.384C>T (p.Cys128=) n.706C>T c.755C>T (p.Ala252Val) c.812C>T (p.Ala271Val) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
| 20 | g.63439644G>T | CA409652580 | KCNQ2 | c.881C>A (p.Ala294Glu) n.619C>A c.362C>A (p.Ala121Glu) c.539C>A (p.Ala180Glu) n.1007C>A c.246C>A c.25C>A c.384C>A (p.Cys128Ter) n.706C>A c.755C>A (p.Ala252Glu) c.812C>A (p.Ala271Glu) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
| 20 | g.63439644G= | CA2374791948 | KCNQ2 | c.881C= (p.Ala294=) n.619C= c.362C= (p.Ala121=) c.539C= (p.Ala180=) n.1007C= c.246C= c.25C= c.384C= (p.Cys128=) n.706C= c.755C= (p.Ala252=) c.812C= (p.Ala271=) | dbSNP |