| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154032351del | CA270303 | MECP2 | c.233del (p.Ser78LeufsTer?) c.269del (p.Ser90LeufsTer?) c.*287del (n.*287del) n.2581del c.221del (p.Ser74LeufsTer?) c.-47del (n.-47del) c.-328del (n.-328del) | ClinVar dbSNP |
| X | g.154032351G= | CA3065052962 | MECP2 | c.233C= (p.Ser78=) c.269C= (p.Ser90=) c.*287C= (n.*287C=) n.2581C= c.221C= (p.Ser74=) c.-47C= (n.-47C=) c.-328C= (n.-328C=) | dbSNP dbSNP |