| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154031418T>C | CA121705 | MECP2 | c.410A>G (p.Glu137Gly) c.446A>G (p.Glu149Gly) c.43A>G c.*464A>G (n.*464A>G) n.2758A>G c.398A>G (p.Glu133Gly) c.131A>G (p.Glu44Gly) c.-151A>G (n.-151A>G) | ClinVar dbSNP gnomAD v4 |
| X | g.154031418T= | CA2466571027 | MECP2 | c.410A= (p.Glu137=) c.446A= (p.Glu149=) c.43A= c.*464A= (n.*464A=) n.2758A= c.398A= (p.Glu133=) c.131A= (p.Glu44=) c.-151A= (n.-151A=) | dbSNP |