| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154030864G>C | CA274540 | MECP2 | c.964C>G (p.Pro322Ala) c.1000C>G (p.Pro334Ala) c.138C>G c.*336C>G (n.*336C>G) c.950C>G (p.Ala317Gly) c.685C>G (p.Pro229Ala) c.295C>G (p.Pro99Ala) | ClinVar dbSNP |
| X | g.154030864G>A | CA121715 | MECP2 | c.964C>T (p.Pro322Ser) c.1000C>T (p.Pro334Ser) c.138C>T c.*336C>T (n.*336C>T) c.950C>T (p.Ala317Val) c.685C>T (p.Pro229Ser) c.295C>T (p.Pro99Ser) | ClinVar dbSNP |