Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154030921T>C | CA16608767 | MECP2 | c.907A>G (p.Ile303Val) c.943A>G (p.Ile315Val) c.81A>G c.*279A>G (n.*279A>G) c.893A>G (p.His298Arg) c.628A>G (p.Ile210Val) c.238A>G (p.Ile80Val) | ClinVar dbSNP |
X | g.154030921T= | CA2466570733 | MECP2 | c.907A= (p.Ile303=) c.943A= (p.Ile315=) c.81A= c.*279A= (n.*279A=) c.893A= (p.His298=) c.628A= (p.Ile210=) c.238A= (p.Ile80=) | dbSNP |