| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154030677G>A | CA199482 | MECP2 | c.1151C>T (p.Pro384Leu) c.1187C>T (p.Pro396Leu) c.*523C>T (n.*523C>T) c.872C>T (p.Pro291Leu) c.482C>T (p.Pro161Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154030677G= | CA2466570533 | MECP2 | c.1151C= (p.Pro384=) c.1187C= (p.Pro396=) c.*523C= (n.*523C=) c.872C= (p.Pro291=) c.482C= (p.Pro161=) | dbSNP |