| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154030582C>T | CA415166432 | MECP2 | c.1246G>A (p.Glu416Lys) c.1282G>A (p.Glu428Lys) c.*618G>A (n.*618G>A) c.967G>A (p.Glu323Lys) c.577G>A (p.Glu193Lys) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154030582C>A | CA16043865 | MECP2 | c.1246G>T (p.Glu416Ter) c.1282G>T (p.Glu428Ter) c.*618G>T (n.*618G>T) c.967G>T (p.Glu323Ter) c.577G>T (p.Glu193Ter) | ClinVar dbSNP |
| X | g.154030582C= | CA2466570231 | MECP2 | c.1246G= (p.Glu416=) c.1282G= (p.Glu428=) c.*618G= (n.*618G=) c.967G= (p.Glu323=) c.577G= (p.Glu193=) | dbSNP |