| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.77684527G>C | CA16608993 | ATRX | c.729C>G (p.Cys243Trp) c.615C>G (p.Cys205Trp) c.*357C>G (n.*357C>G) c.564C>G (p.Cys188Trp) c.612C>G (p.Cys204Trp) c.544C>G c.726C>G (p.Cys242Trp) c.450C>G (p.Cys150Trp) n.997C>G c.609C>G (p.Cys203Trp) c.561C>G (p.Cys187Trp) c.498C>G (p.Cys166Trp) c.495C>G (p.Cys165Trp) c.447C>G (p.Cys149Trp) n.954C>G | ClinVar dbSNP |
| X | g.77684527G>A | CA517473063 | ATRX | c.729C>T (p.Cys243=) c.615C>T (p.Cys205=) c.*357C>T (n.*357C>T) c.564C>T (p.Cys188=) c.612C>T (p.Cys204=) c.544C>T c.726C>T (p.Cys242=) c.450C>T (p.Cys150=) n.997C>T c.609C>T (p.Cys203=) c.561C>T (p.Cys187=) c.498C>T (p.Cys166=) c.495C>T (p.Cys165=) c.447C>T (p.Cys149=) n.954C>T | dbSNP |