| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154032208T>C | CA16621247 | MECP2 | c.376A>G (p.Asn126Asp) c.412A>G (p.Asn138Asp) c.9A>G c.*430A>G (n.*430A>G) n.2724A>G c.364A>G (p.Asn122Asp) c.97A>G (p.Asn33Asp) c.-185A>G (n.-185A>G) | ClinVar dbSNP |
| X | g.154032208T= | CA2466571512 | MECP2 | c.376A= (p.Asn126=) c.412A= (p.Asn138=) c.9A= c.*430A= (n.*430A=) n.2724A= c.364A= (p.Asn122=) c.97A= (p.Asn33=) c.-185A= (n.-185A=) | dbSNP |