| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154030912G>A | CA212529 | MECP2 | c.916C>T (p.Arg306Cys) c.952C>T (p.Arg318Cys) c.90C>T c.*288C>T (n.*288C>T) c.902C>T (p.Ala301Val) c.637C>T (p.Arg213Cys) c.247C>T (p.Arg83Cys) | ClinVar dbSNP |
| X | g.154030912G= | CA2466570721 | MECP2 | c.916C= (p.Arg306=) c.952C= (p.Arg318=) c.90C= c.*288C= (n.*288C=) c.902C= (p.Ala301=) c.637C= (p.Arg213=) c.247C= (p.Arg83=) | dbSNP |