| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154031409G>A | CA121703 | MECP2 | c.419C>T (p.Ala140Val) c.455C>T (p.Ala152Val) c.52C>T c.*473C>T (n.*473C>T) n.2767C>T c.407C>T (p.Ala136Val) c.140C>T (p.Ala47Val) c.-142C>T (n.-142C>T) | ClinVar dbSNP gnomAD v4 COSMIC |
| X | g.154031409G>T | CA10558610 | MECP2 | c.419C>A (p.Ala140Glu) c.455C>A (p.Ala152Glu) c.52C>A c.*473C>A (n.*473C>A) n.2767C>A c.407C>A (p.Ala136Glu) c.140C>A (p.Ala47Glu) c.-142C>A (n.-142C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |