| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154030917T>C | CA170406 | MECP2 | c.911A>G (p.Lys304Arg) c.947A>G (p.Lys316Arg) c.85A>G c.*283A>G (n.*283A>G) c.897A>G (p.Gln299=) c.632A>G (p.Lys211Arg) c.242A>G (p.Lys81Arg) | ClinVar dbSNP COSMIC |
| X | g.154030917T>G | CA294658 | MECP2 | c.911A>C (p.Lys304Thr) c.947A>C (p.Lys316Thr) c.85A>C c.*283A>C (n.*283A>C) c.897A>C (p.Gln299His) c.632A>C (p.Lys211Thr) c.242A>C (p.Lys81Thr) | dbSNP |