| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154030465C>A | CA232941 | MECP2 | c.1363G>T (p.Glu455Ter) c.1399G>T (p.Glu467Ter) c.*735G>T (n.*735G>T) c.1084G>T (p.Glu362Ter) c.694G>T (p.Glu232Ter) | ClinVar dbSNP |
| X | g.154030465C= | CA2466570138 | MECP2 | c.1363G= (p.Glu455=) c.1399G= (p.Glu467=) c.*735G= (n.*735G=) c.1084G= (p.Glu362=) c.694G= (p.Glu232=) | dbSNP |