| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154031217G>C | CA202772 | MECP2 | c.611C>G (p.Ser204Ter) c.647C>G (p.Ser216Ter) c.65+179C>G c.538C>G (p.Gln180Glu) c.599C>G (p.Ser200Ter) c.502C>G (p.Gln168Glu) c.332C>G (p.Ser111Ter) c.-59C>G (n.-59C>G) | ClinVar dbSNP |
| X | g.154031217G>A | CA415173045 | MECP2 | c.611C>T (p.Ser204Leu) c.647C>T (p.Ser216Leu) c.65+179C>T c.538C>T (p.Gln180Ter) c.599C>T (p.Ser200Leu) c.502C>T (p.Gln168Ter) c.332C>T (p.Ser111Leu) c.-59C>T (n.-59C>T) | dbSNP gnomAD v2 gnomAD v4 |