| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154032241G>A | CA294544 | MECP2 | c.343C>T (p.Arg115Cys) c.379C>T (p.Arg127Cys) c.*397C>T (n.*397C>T) n.2691C>T c.331C>T (p.Arg111Cys) c.64C>T (p.Arg22Cys) c.-218C>T (n.-218C>T) | ClinVar dbSNP gnomAD v4 |
| X | g.154032241G= | CA2466571524 | MECP2 | c.343C= (p.Arg115=) c.379C= (p.Arg127=) c.*397C= (n.*397C=) n.2691C= c.331C= (p.Arg111=) c.64C= (p.Arg22=) c.-218C= (n.-218C=) | dbSNP |