| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154031425T>C | CA270401 | MECP2 | c.403A>G (p.Lys135Glu) c.439A>G (p.Lys147Glu) c.36A>G c.*457A>G (n.*457A>G) n.2751A>G c.391A>G (p.Lys131Glu) c.124A>G (p.Lys42Glu) c.-158A>G (n.-158A>G) | ClinVar dbSNP |
| X | g.154031425T= | CA2466571029 | MECP2 | c.403A= (p.Lys135=) c.439A= (p.Lys147=) c.36A= c.*457A= (n.*457A=) n.2751A= c.391A= (p.Lys131=) c.124A= (p.Lys42=) c.-158A= (n.-158A=) | dbSNP |