| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154030619del | CA16621243 | MECP2 | c.1209del (p.Glu404SerfsTer5) c.1245del (p.Glu416SerfsTer5) c.*581del (n.*581del) c.930del (p.Glu311SerfsTer5) c.540del (p.Glu181SerfsTer5) | ClinVar dbSNP |
| X | g.154030619A= | CA2466570280 | MECP2 | c.1209T= (p.Pro403=) c.1245T= (p.Pro415=) c.*581T= (n.*581T=) c.930T= (p.Pro310=) c.540T= (p.Pro180=) | dbSNP dbSNP |