| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154032220C>T | CA270366 | MECP2 | c.364G>A (p.Val122Met) c.400G>A (p.Val134Met) c.*418G>A (n.*418G>A) n.2712G>A c.352G>A (p.Val118Met) c.85G>A (p.Val29Met) c.-197G>A (n.-197G>A) | ClinVar dbSNP |
| X | g.154032220C= | CA2466571516 | MECP2 | c.364G= (p.Val122=) c.400G= (p.Val134=) c.*418G= (n.*418G=) n.2712G= c.352G= (p.Val118=) c.85G= (p.Val29=) c.-197G= (n.-197G=) | dbSNP |