| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154030896G>A | CA170409 | MECP2 | c.932C>T (p.Thr311Met) c.968C>T (p.Thr323Met) c.106C>T c.*304C>T (n.*304C>T) c.918C>T (p.Asp306=) c.653C>T (p.Thr218Met) c.263C>T (p.Thr88Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.154030896G= | CA2466570711 | MECP2 | c.932C= (p.Thr311=) c.968C= (p.Thr323=) c.106C= c.*304C= (n.*304C=) c.918C= (p.Asp306=) c.653C= (p.Thr218=) c.263C= (p.Thr88=) | dbSNP |