| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154031364A>C | CA232969 | MECP2 | c.464T>G (p.Phe155Cys) c.500T>G (p.Phe167Cys) c.65+32T>G c.468+32T>G (n.468+32T>G) n.2812T>G c.452T>G (p.Phe151Cys) c.432+32T>G (n.432+32T>G) c.185T>G (p.Phe62Cys) c.-129+32T>G (n.-129+32T>G) | ClinVar dbSNP |
| X | g.154031364A>G | CA256087 | MECP2 | c.464T>C (p.Phe155Ser) c.500T>C (p.Phe167Ser) c.65+32T>C c.468+32T>C (n.468+32T>C) n.2812T>C c.452T>C (p.Phe151Ser) c.432+32T>C (n.432+32T>C) c.185T>C (p.Phe62Ser) c.-129+32T>C (n.-129+32T>C) | ClinVar dbSNP |