| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154032331G>A | CA16621248 | MECP2 | c.253C>T (p.Arg85Cys) c.289C>T (p.Arg97Cys) c.*307C>T (n.*307C>T) n.2601C>T c.241C>T (p.Arg81Cys) c.-27C>T (n.-27C>T) c.-308C>T (n.-308C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.154032331G= | CA2466571572 | MECP2 | c.253C= (p.Arg85=) c.289C= (p.Arg97=) c.*307C= (n.*307C=) n.2601C= c.241C= (p.Arg81=) c.-27C= (n.-27C=) c.-308C= (n.-308C=) | dbSNP |