| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.148807666T>C | CA271515 | EZH2 | n.4136A>G c.*1298A>G (n.*1298A>G) c.*1132A>G (n.*1132A>G) n.3955A>G n.4223A>G n.2552A>G n.2614A>G c.2236A>G (p.Arg746Gly) c.2104A>G (p.Arg702Gly) c.2221A>G (p.Arg741Gly) c.2068A>G (p.Arg690Gly) c.2194A>G (p.Arg732Gly) c.*2226A>G (n.*2226A>G) c.2245A>G (p.Arg749Gly) c.2218A>G (p.Arg740Gly) c.2092A>G (p.Arg698Gly) c.2260A>G (p.Arg754Gly) c.2233A>G (p.Arg745Gly) c.2212A>G (p.Arg738Gly) c.2209A>G (p.Arg737Gly) c.2170A>G (p.Arg724Gly) c.2143A>G (p.Arg715Gly) c.2137A>G (p.Arg713Gly) c.2134A>G (p.Arg712Gly) c.2128A>G (p.Arg710Gly) c.2119A>G (p.Arg707Gly) c.2116A>G (p.Arg706Gly) c.2002A>G (p.Arg668Gly) c.1909A>G (p.Arg637Gly) n.515+2581T>C n.722+2581T>C c.2197A>G (p.Arg733Gly) c.1894A>G (p.Arg632Gly) c.2122A>G (p.Arg708Gly) n.4610A>G n.5266A>G n.5726A>G | ClinVar dbSNP gnomAD v4 |
| 7 | g.148807666T= | CA1751419283 | EZH2 | n.4136A= c.*1298A= (n.*1298A=) c.*1132A= (n.*1132A=) n.3955A= n.4223A= n.2552A= n.2614A= c.2236A= (p.Arg746=) c.2104A= (p.Arg702=) c.2221A= (p.Arg741=) c.2068A= (p.Arg690=) c.2194A= (p.Arg732=) c.*2226A= (n.*2226A=) c.2245A= (p.Arg749=) c.2218A= (p.Arg740=) c.2092A= (p.Arg698=) c.2260A= (p.Arg754=) c.2233A= (p.Arg745=) c.2212A= (p.Arg738=) c.2209A= (p.Arg737=) c.2170A= (p.Arg724=) c.2143A= (p.Arg715=) c.2137A= (p.Arg713=) c.2134A= (p.Arg712=) c.2128A= (p.Arg710=) c.2119A= (p.Arg707=) c.2116A= (p.Arg706=) c.2002A= (p.Arg668=) c.1909A= (p.Arg637=) n.515+2581T= n.722+2581T= c.2197A= (p.Arg733=) c.1894A= (p.Arg632=) c.2122A= (p.Arg708=) n.4610A= n.5266A= n.5726A= | dbSNP |