| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154031355G>T | CA415174497 | MECP2 | c.473C>A (p.Thr158Lys) c.509C>A (p.Thr170Lys) c.65+41C>A c.468+41C>A (n.468+41C>A) n.2821C>A c.461C>A (p.Thr154Lys) c.432+41C>A (n.432+41C>A) c.194C>A (p.Thr65Lys) c.-129+41C>A (n.-129+41C>A) | ClinVar dbSNP |
| X | g.154031355G>A | CA211252 | MECP2 | c.473C>T (p.Thr158Met) c.509C>T (p.Thr170Met) c.65+41C>T c.468+41C>T (n.468+41C>T) n.2821C>T c.461C>T (p.Thr154Met) c.432+41C>T (n.432+41C>T) c.194C>T (p.Thr65Met) c.-129+41C>T (n.-129+41C>T) | ClinVar dbSNP COSMIC |