| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154030913C>A | CA16044336 | MECP2 | c.915G>T (p.Lys305Asn) c.951G>T (p.Lys317Asn) c.89G>T c.*287G>T (n.*287G>T) c.901G>T (p.Ala301Ser) c.636G>T (p.Lys212Asn) c.246G>T (p.Lys82Asn) | ClinVar dbSNP |
| X | g.154030913C= | CA2466570722 | MECP2 | c.915G= (p.Lys305=) c.951G= (p.Lys317=) c.89G= c.*287G= (n.*287G=) c.901G= (p.Ala301=) c.636G= (p.Lys212=) c.246G= (p.Lys82=) | dbSNP |