| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154030919G>C | CA170403 | MECP2 | c.909C>G (p.Ile303Met) c.945C>G (p.Ile315Met) c.83C>G c.*281C>G (n.*281C>G) c.895C>G (p.Gln299Glu) c.630C>G (p.Ile210Met) c.240C>G (p.Ile80Met) | ClinVar dbSNP COSMIC |
| X | g.154030919G= | CA2466570728 | MECP2 | c.909C= (p.Ile303=) c.945C= (p.Ile315=) c.83C= c.*281C= (n.*281C=) c.895C= (p.Gln299=) c.630C= (p.Ile210=) c.240C= (p.Ile80=) | dbSNP |