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 |