| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.148810355G>C | CA10588420 | EZH2 | n.3907C>G c.*1069C>G (n.*1069C>G) c.*903C>G (n.*903C>G) n.3726C>G n.2898C>G n.2323C>G n.2385C>G c.2007C>G (p.Ser669Arg) c.1875C>G (p.Ser625Arg) c.1992C>G (p.Ser664Arg) n.259C>G c.1839C>G (p.Ser613Arg) c.1965C>G (p.Ser655Arg) c.*1997C>G (n.*1997C>G) c.2016C>G (p.Ser672Arg) c.1989C>G (p.Ser663Arg) c.1863C>G (p.Ser621Arg) c.2031C>G (p.Ser677Arg) c.2004C>G (p.Ser668Arg) c.1983C>G (p.Ser661Arg) c.1980C>G (p.Ser660Arg) c.1941C>G (p.Ser647Arg) c.1914C>G (p.Ser638Arg) c.1908C>G (p.Ser636Arg) c.1905C>G (p.Ser635Arg) c.1899C>G (p.Ser633Arg) c.1890C>G (p.Ser630Arg) c.1887C>G (p.Ser629Arg) c.1773C>G (p.Ser591Arg) c.1680C>G (p.Ser560Arg) n.515+5270G>C n.722+5270G>C c.1968C>G (p.Ser656Arg) c.1665C>G (p.Ser555Arg) c.1893C>G (p.Ser631Arg) n.4381C>G n.5037C>G n.5497C>G | ClinVar dbSNP COSMIC COSMIC |
| 7 | g.148810355G>A | CA458345770 | EZH2 | n.3907C>T c.*1069C>T (n.*1069C>T) c.*903C>T (n.*903C>T) n.3726C>T n.2898C>T n.2323C>T n.2385C>T c.2007C>T (p.Ser669=) c.1875C>T (p.Ser625=) c.1992C>T (p.Ser664=) n.259C>T c.1839C>T (p.Ser613=) c.1965C>T (p.Ser655=) c.*1997C>T (n.*1997C>T) c.2016C>T (p.Ser672=) c.1989C>T (p.Ser663=) c.1863C>T (p.Ser621=) c.2031C>T (p.Ser677=) c.2004C>T (p.Ser668=) c.1983C>T (p.Ser661=) c.1980C>T (p.Ser660=) c.1941C>T (p.Ser647=) c.1914C>T (p.Ser638=) c.1908C>T (p.Ser636=) c.1905C>T (p.Ser635=) c.1899C>T (p.Ser633=) c.1890C>T (p.Ser630=) c.1887C>T (p.Ser629=) c.1773C>T (p.Ser591=) c.1680C>T (p.Ser560=) n.515+5270G>A n.722+5270G>A c.1968C>T (p.Ser656=) c.1665C>T (p.Ser555=) c.1893C>T (p.Ser631=) n.4381C>T n.5037C>T n.5497C>T | dbSNP gnomAD v4 |
| 7 | g.148810355G= | CA1751422375 | EZH2 | n.3907C= c.*1069C= (n.*1069C=) c.*903C= (n.*903C=) n.3726C= n.2898C= n.2323C= n.2385C= c.2007C= (p.Ser669=) c.1875C= (p.Ser625=) c.1992C= (p.Ser664=) n.259C= c.1839C= (p.Ser613=) c.1965C= (p.Ser655=) c.*1997C= (n.*1997C=) c.2016C= (p.Ser672=) c.1989C= (p.Ser663=) c.1863C= (p.Ser621=) c.2031C= (p.Ser677=) c.2004C= (p.Ser668=) c.1983C= (p.Ser661=) c.1980C= (p.Ser660=) c.1941C= (p.Ser647=) c.1914C= (p.Ser638=) c.1908C= (p.Ser636=) c.1905C= (p.Ser635=) c.1899C= (p.Ser633=) c.1890C= (p.Ser630=) c.1887C= (p.Ser629=) c.1773C= (p.Ser591=) c.1680C= (p.Ser560=) n.515+5270G= n.722+5270G= c.1968C= (p.Ser656=) c.1665C= (p.Ser555=) c.1893C= (p.Ser631=) n.4381C= n.5037C= n.5497C= | dbSNP |