| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154032286G>C | CA198822 | MECP2 | c.298C>G (p.Leu100Val) c.334C>G (p.Leu112Val) c.*352C>G (n.*352C>G) n.2646C>G c.286C>G (p.Leu96Val) c.19C>G (p.Leu7Val) c.-263C>G (n.-263C>G) | ClinVar dbSNP |
| X | g.154032286G= | CA2466571549 | MECP2 | c.298C= (p.Leu100=) c.334C= (p.Leu112=) c.*352C= (n.*352C=) n.2646C= c.286C= (p.Leu96=) c.19C= (p.Leu7=) c.-263C= (n.-263C=) | dbSNP |