| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154031138del | CA16621246 | MECP2 | c.690del (p.Gly232AlafsTer16) c.726del (p.Gly244AlafsTer16) c.66-202del c.*62del (n.*62del) c.678del (p.Gly228AlafsTer16) c.411del (p.Gly139AlafsTer16) c.21del (p.Gly9AlafsTer16) | ClinVar dbSNP |
| X | g.154031138T= | CA2466570837 | MECP2 | c.690A= (p.Pro230=) c.726A= (p.Pro242=) c.66-202A= c.*62A= (n.*62A=) c.678A= (p.Pro226=) c.411A= (p.Pro137=) c.21A= (p.Pro7=) | dbSNP dbSNP |