| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154032209del | CA270372 | MECP2 | c.375del (p.Asn126IlefsTer13) c.411del (p.Asn138IlefsTer13) c.8del c.*429del (n.*429del) n.2723del c.363del (p.Asn122IlefsTer13) c.96del (p.Asn33IlefsTer13) c.-186del (n.-186del) | ClinVar dbSNP |
| X | g.154032209G= | CA2466571513 | MECP2 | c.375C= (p.Ile125=) c.411C= (p.Ile137=) c.8C= c.*429C= (n.*429C=) n.2723C= c.363C= (p.Ile121=) c.96C= (p.Ile32=) c.-186C= (n.-186C=) | dbSNP dbSNP |