| 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 |
| X | g.154031355G>C | CA415174482 | MECP2 | c.473C>G (p.Thr158Arg) c.509C>G (p.Thr170Arg) c.65+41C>G c.468+41C>G (n.468+41C>G) n.2821C>G c.461C>G (p.Thr154Arg) c.432+41C>G (n.432+41C>G) c.194C>G (p.Thr65Arg) c.-129+41C>G (n.-129+41C>G) | ClinVar dbSNP |
| X | g.154031355G= | CA2466570988 | MECP2 | c.473C= (p.Thr158=) c.509C= (p.Thr170=) c.65+41C= c.468+41C= (n.468+41C=) n.2821C= c.461C= (p.Thr154=) c.432+41C= (n.432+41C=) c.194C= (p.Thr65=) c.-129+41C= (n.-129+41C=) | dbSNP |