| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 | gnomAD v4 |
| 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= | 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= | |
| 7 | g.148810355G>T | CA369712569 | EZH2 | n.3907C>A c.*1069C>A (n.*1069C>A) c.*903C>A (n.*903C>A) n.3726C>A n.2898C>A n.2323C>A n.2385C>A c.2007C>A (p.Ser669Arg) c.1875C>A (p.Ser625Arg) c.1992C>A (p.Ser664Arg) n.259C>A c.1839C>A (p.Ser613Arg) c.1965C>A (p.Ser655Arg) c.*1997C>A (n.*1997C>A) c.2016C>A (p.Ser672Arg) c.1989C>A (p.Ser663Arg) c.1863C>A (p.Ser621Arg) c.2031C>A (p.Ser677Arg) c.2004C>A (p.Ser668Arg) c.1983C>A (p.Ser661Arg) c.1980C>A (p.Ser660Arg) c.1941C>A (p.Ser647Arg) c.1914C>A (p.Ser638Arg) c.1908C>A (p.Ser636Arg) c.1905C>A (p.Ser635Arg) c.1899C>A (p.Ser633Arg) c.1890C>A (p.Ser630Arg) c.1887C>A (p.Ser629Arg) c.1773C>A (p.Ser591Arg) c.1680C>A (p.Ser560Arg) n.515+5270G>T n.722+5270G>T c.1968C>A (p.Ser656Arg) c.1665C>A (p.Ser555Arg) c.1893C>A (p.Ser631Arg) n.4381C>A n.5037C>A n.5497C>A | |
| 7 | g.148810356C>A | CA369712571 | EZH2 | n.3906G>T c.*1068G>T (n.*1068G>T) c.*902G>T (n.*902G>T) n.3725G>T n.2897G>T n.2322G>T n.2384G>T c.2006G>T (p.Ser669Ile) c.1874G>T (p.Ser625Ile) c.1991G>T (p.Ser664Ile) n.258G>T c.1838G>T (p.Ser613Ile) c.1964G>T (p.Ser655Ile) c.*1996G>T (n.*1996G>T) c.2015G>T (p.Ser672Ile) c.1988G>T (p.Ser663Ile) c.1862G>T (p.Ser621Ile) c.2030G>T (p.Ser677Ile) c.2003G>T (p.Ser668Ile) c.1982G>T (p.Ser661Ile) c.1979G>T (p.Ser660Ile) c.1940G>T (p.Ser647Ile) c.1913G>T (p.Ser638Ile) c.1907G>T (p.Ser636Ile) c.1904G>T (p.Ser635Ile) c.1898G>T (p.Ser633Ile) c.1889G>T (p.Ser630Ile) c.1886G>T (p.Ser629Ile) c.1772G>T (p.Ser591Ile) c.1679G>T (p.Ser560Ile) n.515+5271C>A n.722+5271C>A c.1967G>T (p.Ser656Ile) c.1664G>T (p.Ser555Ile) c.1892G>T (p.Ser631Ile) n.4380G>T n.5036G>T n.5496G>T | |
| 7 | g.148810356C>G | CA369712572 | EZH2 | n.3906G>C c.*1068G>C (n.*1068G>C) c.*902G>C (n.*902G>C) n.3725G>C n.2897G>C n.2322G>C n.2384G>C c.2006G>C (p.Ser669Thr) c.1874G>C (p.Ser625Thr) c.1991G>C (p.Ser664Thr) n.258G>C c.1838G>C (p.Ser613Thr) c.1964G>C (p.Ser655Thr) c.*1996G>C (n.*1996G>C) c.2015G>C (p.Ser672Thr) c.1988G>C (p.Ser663Thr) c.1862G>C (p.Ser621Thr) c.2030G>C (p.Ser677Thr) c.2003G>C (p.Ser668Thr) c.1982G>C (p.Ser661Thr) c.1979G>C (p.Ser660Thr) c.1940G>C (p.Ser647Thr) c.1913G>C (p.Ser638Thr) c.1907G>C (p.Ser636Thr) c.1904G>C (p.Ser635Thr) c.1898G>C (p.Ser633Thr) c.1889G>C (p.Ser630Thr) c.1886G>C (p.Ser629Thr) c.1772G>C (p.Ser591Thr) c.1679G>C (p.Ser560Thr) n.515+5271C>G n.722+5271C>G c.1967G>C (p.Ser656Thr) c.1664G>C (p.Ser555Thr) c.1892G>C (p.Ser631Thr) n.4380G>C n.5036G>C n.5496G>C | |
| 7 | g.148810356C>T | CA369712574 | EZH2 | n.3906G>A c.*1068G>A (n.*1068G>A) c.*902G>A (n.*902G>A) n.3725G>A n.2897G>A n.2322G>A n.2384G>A c.2006G>A (p.Ser669Asn) c.1874G>A (p.Ser625Asn) c.1991G>A (p.Ser664Asn) n.258G>A c.1838G>A (p.Ser613Asn) c.1964G>A (p.Ser655Asn) c.*1996G>A (n.*1996G>A) c.2015G>A (p.Ser672Asn) c.1988G>A (p.Ser663Asn) c.1862G>A (p.Ser621Asn) c.2030G>A (p.Ser677Asn) c.2003G>A (p.Ser668Asn) c.1982G>A (p.Ser661Asn) c.1979G>A (p.Ser660Asn) c.1940G>A (p.Ser647Asn) c.1913G>A (p.Ser638Asn) c.1907G>A (p.Ser636Asn) c.1904G>A (p.Ser635Asn) c.1898G>A (p.Ser633Asn) c.1889G>A (p.Ser630Asn) c.1886G>A (p.Ser629Asn) c.1772G>A (p.Ser591Asn) c.1679G>A (p.Ser560Asn) n.515+5271C>T n.722+5271C>T c.1967G>A (p.Ser656Asn) c.1664G>A (p.Ser555Asn) c.1892G>A (p.Ser631Asn) n.4380G>A n.5036G>A n.5496G>A | ClinVar dbSNP COSMIC |
| 7 | g.148810357T>A | CA369712575 | EZH2 | n.3905A>T c.*1067A>T (n.*1067A>T) c.*901A>T (n.*901A>T) n.3724A>T n.2896A>T n.2321A>T n.2383A>T c.2005A>T (p.Ser669Cys) c.1873A>T (p.Ser625Cys) c.1990A>T (p.Ser664Cys) n.257A>T c.1837A>T (p.Ser613Cys) c.1963A>T (p.Ser655Cys) c.*1995A>T (n.*1995A>T) c.2014A>T (p.Ser672Cys) c.1987A>T (p.Ser663Cys) c.1861A>T (p.Ser621Cys) c.2029A>T (p.Ser677Cys) c.2002A>T (p.Ser668Cys) c.1981A>T (p.Ser661Cys) c.1978A>T (p.Ser660Cys) c.1939A>T (p.Ser647Cys) c.1912A>T (p.Ser638Cys) c.1906A>T (p.Ser636Cys) c.1903A>T (p.Ser635Cys) c.1897A>T (p.Ser633Cys) c.1888A>T (p.Ser630Cys) c.1885A>T (p.Ser629Cys) c.1771A>T (p.Ser591Cys) c.1678A>T (p.Ser560Cys) n.515+5272T>A n.722+5272T>A c.1966A>T (p.Ser656Cys) c.1663A>T (p.Ser555Cys) c.1891A>T (p.Ser631Cys) n.4379A>T n.5035A>T n.5495A>T | |
| 7 | g.148810357T>C | CA369712577 | EZH2 | n.3905A>G c.*1067A>G (n.*1067A>G) c.*901A>G (n.*901A>G) n.3724A>G n.2896A>G n.2321A>G n.2383A>G c.2005A>G (p.Ser669Gly) c.1873A>G (p.Ser625Gly) c.1990A>G (p.Ser664Gly) n.257A>G c.1837A>G (p.Ser613Gly) c.1963A>G (p.Ser655Gly) c.*1995A>G (n.*1995A>G) c.2014A>G (p.Ser672Gly) c.1987A>G (p.Ser663Gly) c.1861A>G (p.Ser621Gly) c.2029A>G (p.Ser677Gly) c.2002A>G (p.Ser668Gly) c.1981A>G (p.Ser661Gly) c.1978A>G (p.Ser660Gly) c.1939A>G (p.Ser647Gly) c.1912A>G (p.Ser638Gly) c.1906A>G (p.Ser636Gly) c.1903A>G (p.Ser635Gly) c.1897A>G (p.Ser633Gly) c.1888A>G (p.Ser630Gly) c.1885A>G (p.Ser629Gly) c.1771A>G (p.Ser591Gly) c.1678A>G (p.Ser560Gly) n.515+5272T>C n.722+5272T>C c.1966A>G (p.Ser656Gly) c.1663A>G (p.Ser555Gly) c.1891A>G (p.Ser631Gly) n.4379A>G n.5035A>G n.5495A>G | gnomAD v4 COSMIC COSMIC |
| 7 | g.148810357T>G | CA369712579 | EZH2 | n.3905A>C c.*1067A>C (n.*1067A>C) c.*901A>C (n.*901A>C) n.3724A>C n.2896A>C n.2321A>C n.2383A>C c.2005A>C (p.Ser669Arg) c.1873A>C (p.Ser625Arg) c.1990A>C (p.Ser664Arg) n.257A>C c.1837A>C (p.Ser613Arg) c.1963A>C (p.Ser655Arg) c.*1995A>C (n.*1995A>C) c.2014A>C (p.Ser672Arg) c.1987A>C (p.Ser663Arg) c.1861A>C (p.Ser621Arg) c.2029A>C (p.Ser677Arg) c.2002A>C (p.Ser668Arg) c.1981A>C (p.Ser661Arg) c.1978A>C (p.Ser660Arg) c.1939A>C (p.Ser647Arg) c.1912A>C (p.Ser638Arg) c.1906A>C (p.Ser636Arg) c.1903A>C (p.Ser635Arg) c.1897A>C (p.Ser633Arg) c.1888A>C (p.Ser630Arg) c.1885A>C (p.Ser629Arg) c.1771A>C (p.Ser591Arg) c.1678A>C (p.Ser560Arg) n.515+5272T>G n.722+5272T>G c.1966A>C (p.Ser656Arg) c.1663A>C (p.Ser555Arg) c.1891A>C (p.Ser631Arg) n.4379A>C n.5035A>C n.5495A>C | |
| 7 | g.148810357T= | CA1751422380 | EZH2 | n.3905A= c.*1067A= (n.*1067A=) c.*901A= (n.*901A=) n.3724A= n.2896A= n.2321A= n.2383A= c.2005A= (p.Ser669=) c.1873A= (p.Ser625=) c.1990A= (p.Ser664=) n.257A= c.1837A= (p.Ser613=) c.1963A= (p.Ser655=) c.*1995A= (n.*1995A=) c.2014A= (p.Ser672=) c.1987A= (p.Ser663=) c.1861A= (p.Ser621=) c.2029A= (p.Ser677=) c.2002A= (p.Ser668=) c.1981A= (p.Ser661=) c.1978A= (p.Ser660=) c.1939A= (p.Ser647=) c.1912A= (p.Ser638=) c.1906A= (p.Ser636=) c.1903A= (p.Ser635=) c.1897A= (p.Ser633=) c.1888A= (p.Ser630=) c.1885A= (p.Ser629=) c.1771A= (p.Ser591=) c.1678A= (p.Ser560=) n.515+5272T= n.722+5272T= c.1966A= (p.Ser656=) c.1663A= (p.Ser555=) c.1891A= (p.Ser631=) n.4379A= n.5035A= n.5495A= | |
| 7 | g.148810358G>A | CA458345771 | EZH2 | n.3904C>T c.*1066C>T (n.*1066C>T) c.*900C>T (n.*900C>T) n.3723C>T n.2895C>T n.2320C>T n.2382C>T c.2004C>T (p.Cys668=) c.1872C>T (p.Cys624=) c.1989C>T (p.Cys663=) n.256C>T c.1836C>T (p.Cys612=) c.1962C>T (p.Cys654=) c.*1994C>T (n.*1994C>T) c.2013C>T (p.Cys671=) c.1986C>T (p.Cys662=) c.1860C>T (p.Cys620=) c.2028C>T (p.Cys676=) c.2001C>T (p.Cys667=) c.1980C>T (p.Cys660=) c.1977C>T (p.Cys659=) c.1938C>T (p.Cys646=) c.1911C>T (p.Cys637=) c.1905C>T (p.Cys635=) c.1902C>T (p.Cys634=) c.1896C>T (p.Cys632=) c.1887C>T (p.Cys629=) c.1884C>T (p.Cys628=) c.1770C>T (p.Cys590=) c.1677C>T (p.Cys559=) n.515+5273G>A n.722+5273G>A c.1965C>T (p.Cys655=) c.1662C>T (p.Cys554=) c.1890C>T (p.Cys630=) n.4378C>T n.5034C>T n.5494C>T | COSMIC COSMIC |
| 7 | g.148810358G>C | CA369712580 | EZH2 | n.3904C>G c.*1066C>G (n.*1066C>G) c.*900C>G (n.*900C>G) n.3723C>G n.2895C>G n.2320C>G n.2382C>G c.2004C>G (p.Cys668Trp) c.1872C>G (p.Cys624Trp) c.1989C>G (p.Cys663Trp) n.256C>G c.1836C>G (p.Cys612Trp) c.1962C>G (p.Cys654Trp) c.*1994C>G (n.*1994C>G) c.2013C>G (p.Cys671Trp) c.1986C>G (p.Cys662Trp) c.1860C>G (p.Cys620Trp) c.2028C>G (p.Cys676Trp) c.2001C>G (p.Cys667Trp) c.1980C>G (p.Cys660Trp) c.1977C>G (p.Cys659Trp) c.1938C>G (p.Cys646Trp) c.1911C>G (p.Cys637Trp) c.1905C>G (p.Cys635Trp) c.1902C>G (p.Cys634Trp) c.1896C>G (p.Cys632Trp) c.1887C>G (p.Cys629Trp) c.1884C>G (p.Cys628Trp) c.1770C>G (p.Cys590Trp) c.1677C>G (p.Cys559Trp) n.515+5273G>C n.722+5273G>C c.1965C>G (p.Cys655Trp) c.1662C>G (p.Cys554Trp) c.1890C>G (p.Cys630Trp) n.4378C>G n.5034C>G n.5494C>G | |
| 7 | g.148810358G>T | CA369712581 | EZH2 | n.3904C>A c.*1066C>A (n.*1066C>A) c.*900C>A (n.*900C>A) n.3723C>A n.2895C>A n.2320C>A n.2382C>A c.2004C>A (p.Cys668Ter) c.1872C>A (p.Cys624Ter) c.1989C>A (p.Cys663Ter) n.256C>A c.1836C>A (p.Cys612Ter) c.1962C>A (p.Cys654Ter) c.*1994C>A (n.*1994C>A) c.2013C>A (p.Cys671Ter) c.1986C>A (p.Cys662Ter) c.1860C>A (p.Cys620Ter) c.2028C>A (p.Cys676Ter) c.2001C>A (p.Cys667Ter) c.1980C>A (p.Cys660Ter) c.1977C>A (p.Cys659Ter) c.1938C>A (p.Cys646Ter) c.1911C>A (p.Cys637Ter) c.1905C>A (p.Cys635Ter) c.1902C>A (p.Cys634Ter) c.1896C>A (p.Cys632Ter) c.1887C>A (p.Cys629Ter) c.1884C>A (p.Cys628Ter) c.1770C>A (p.Cys590Ter) c.1677C>A (p.Cys559Ter) n.515+5273G>T n.722+5273G>T c.1965C>A (p.Cys655Ter) c.1662C>A (p.Cys554Ter) c.1890C>A (p.Cys630Ter) n.4378C>A n.5034C>A n.5494C>A | |
| 7 | g.148810358_148810359insGG | CA1751422382 | EZH2 | n.3904_3905insCC c.*1066_*1067insCC (n.*1066_*1067insCC) c.*900_*901insCC (n.*900_*901insCC) n.3723_3724insCC n.2895_2896insCC n.2320_2321insCC n.2382_2383insCC c.2004_2005insCC (p.Ser669ProfsTer7) c.1872_1873insCC (p.Ser625ProfsTer7) c.1989_1990insCC (p.Ser664ProfsTer7) n.256_257insCC c.1836_1837insCC (p.Ser613ProfsTer7) c.1962_1963insCC (p.Ser655ProfsTer7) c.*1994_*1995insCC (n.*1994_*1995insCC) c.2013_2014insCC (p.Ser672ProfsTer7) c.1986_1987insCC (p.Ser663ProfsTer7) c.1860_1861insCC (p.Ser621ProfsTer7) c.2028_2029insCC (p.Ser677ProfsTer7) c.2001_2002insCC (p.Ser668ProfsTer7) c.1980_1981insCC (p.Ser661ProfsTer7) c.1977_1978insCC (p.Ser660ProfsTer7) c.1938_1939insCC (p.Ser647ProfsTer7) c.1911_1912insCC (p.Ser638ProfsTer7) c.1905_1906insCC (p.Ser636ProfsTer7) c.1902_1903insCC (p.Ser635ProfsTer7) c.1896_1897insCC (p.Ser633ProfsTer7) c.1887_1888insCC (p.Ser630ProfsTer7) c.1884_1885insCC (p.Ser629ProfsTer7) c.1770_1771insCC (p.Ser591ProfsTer7) c.1677_1678insCC (p.Ser560ProfsTer7) n.515+5273_515+5274insGG n.722+5273_722+5274insGG c.1965_1966insCC (p.Ser656ProfsTer7) c.1662_1663insCC (p.Ser555ProfsTer7) c.1890_1891insCC (p.Ser631ProfsTer7) n.4378_4379insCC n.5034_5035insCC n.5494_5495insCC | dbSNP |
| 7 | g.148810358_148810359delinsCT | CA2740098421 | EZH2 | n.3903_3904delinsAG c.*1065_*1066delinsAG (n.*1065_*1066delinsAG) c.*899_*900delinsAG (n.*899_*900delinsAG) n.3722_3723delinsAG n.2894_2895delinsAG n.2319_2320delinsAG n.2381_2382delinsAG c.2003_2004delinsAG (p.Cys668Ter) c.1871_1872delinsAG (p.Cys624Ter) c.1988_1989delinsAG (p.Cys663Ter) n.255_256delinsAG c.1835_1836delinsAG (p.Cys612Ter) c.1961_1962delinsAG (p.Cys654Ter) c.*1993_*1994delinsAG (n.*1993_*1994delinsAG) c.2012_2013delinsAG (p.Cys671Ter) c.1985_1986delinsAG (p.Cys662Ter) c.1859_1860delinsAG (p.Cys620Ter) c.2027_2028delinsAG (p.Cys676Ter) c.2000_2001delinsAG (p.Cys667Ter) c.1979_1980delinsAG (p.Cys660Ter) c.1976_1977delinsAG (p.Cys659Ter) c.1937_1938delinsAG (p.Cys646Ter) c.1910_1911delinsAG (p.Cys637Ter) c.1904_1905delinsAG (p.Cys635Ter) c.1901_1902delinsAG (p.Cys634Ter) c.1895_1896delinsAG (p.Cys632Ter) c.1886_1887delinsAG (p.Cys629Ter) c.1883_1884delinsAG (p.Cys628Ter) c.1769_1770delinsAG (p.Cys590Ter) c.1676_1677delinsAG (p.Cys559Ter) n.515+5273_515+5274delinsCT n.722+5273_722+5274delinsCT c.1964_1965delinsAG (p.Cys655Ter) c.1661_1662delinsAG (p.Cys554Ter) c.1889_1890delinsAG (p.Cys630Ter) n.4377_4378delinsAG n.5033_5034delinsAG n.5493_5494delinsAG | |
| 7 | g.148810359C>A | CA369712585 | EZH2 | n.3903G>T c.*1065G>T (n.*1065G>T) c.*899G>T (n.*899G>T) n.3722G>T n.2894G>T n.2319G>T n.2381G>T c.2003G>T (p.Cys668Phe) c.1871G>T (p.Cys624Phe) c.1988G>T (p.Cys663Phe) n.255G>T c.1835G>T (p.Cys612Phe) c.1961G>T (p.Cys654Phe) c.*1993G>T (n.*1993G>T) c.2012G>T (p.Cys671Phe) c.1985G>T (p.Cys662Phe) c.1859G>T (p.Cys620Phe) c.2027G>T (p.Cys676Phe) c.2000G>T (p.Cys667Phe) c.1979G>T (p.Cys660Phe) c.1976G>T (p.Cys659Phe) c.1937G>T (p.Cys646Phe) c.1910G>T (p.Cys637Phe) c.1904G>T (p.Cys635Phe) c.1901G>T (p.Cys634Phe) c.1895G>T (p.Cys632Phe) c.1886G>T (p.Cys629Phe) c.1883G>T (p.Cys628Phe) c.1769G>T (p.Cys590Phe) c.1676G>T (p.Cys559Phe) n.515+5274C>A n.722+5274C>A c.1964G>T (p.Cys655Phe) c.1661G>T (p.Cys554Phe) c.1889G>T (p.Cys630Phe) n.4377G>T n.5033G>T n.5493G>T | |
| 7 | g.148810359C>G | CA369712583 | EZH2 | n.3903G>C c.*1065G>C (n.*1065G>C) c.*899G>C (n.*899G>C) n.3722G>C n.2894G>C n.2319G>C n.2381G>C c.2003G>C (p.Cys668Ser) c.1871G>C (p.Cys624Ser) c.1988G>C (p.Cys663Ser) n.255G>C c.1835G>C (p.Cys612Ser) c.1961G>C (p.Cys654Ser) c.*1993G>C (n.*1993G>C) c.2012G>C (p.Cys671Ser) c.1985G>C (p.Cys662Ser) c.1859G>C (p.Cys620Ser) c.2027G>C (p.Cys676Ser) c.2000G>C (p.Cys667Ser) c.1979G>C (p.Cys660Ser) c.1976G>C (p.Cys659Ser) c.1937G>C (p.Cys646Ser) c.1910G>C (p.Cys637Ser) c.1904G>C (p.Cys635Ser) c.1901G>C (p.Cys634Ser) c.1895G>C (p.Cys632Ser) c.1886G>C (p.Cys629Ser) c.1883G>C (p.Cys628Ser) c.1769G>C (p.Cys590Ser) c.1676G>C (p.Cys559Ser) n.515+5274C>G n.722+5274C>G c.1964G>C (p.Cys655Ser) c.1661G>C (p.Cys554Ser) c.1889G>C (p.Cys630Ser) n.4377G>C n.5033G>C n.5493G>C | |
| 7 | g.148810359C>T | CA369712584 | EZH2 | n.3903G>A c.*1065G>A (n.*1065G>A) c.*899G>A (n.*899G>A) n.3722G>A n.2894G>A n.2319G>A n.2381G>A c.2003G>A (p.Cys668Tyr) c.1871G>A (p.Cys624Tyr) c.1988G>A (p.Cys663Tyr) n.255G>A c.1835G>A (p.Cys612Tyr) c.1961G>A (p.Cys654Tyr) c.*1993G>A (n.*1993G>A) c.2012G>A (p.Cys671Tyr) c.1985G>A (p.Cys662Tyr) c.1859G>A (p.Cys620Tyr) c.2027G>A (p.Cys676Tyr) c.2000G>A (p.Cys667Tyr) c.1979G>A (p.Cys660Tyr) c.1976G>A (p.Cys659Tyr) c.1937G>A (p.Cys646Tyr) c.1910G>A (p.Cys637Tyr) c.1904G>A (p.Cys635Tyr) c.1901G>A (p.Cys634Tyr) c.1895G>A (p.Cys632Tyr) c.1886G>A (p.Cys629Tyr) c.1883G>A (p.Cys628Tyr) c.1769G>A (p.Cys590Tyr) c.1676G>A (p.Cys559Tyr) n.515+5274C>T n.722+5274C>T c.1964G>A (p.Cys655Tyr) c.1661G>A (p.Cys554Tyr) c.1889G>A (p.Cys630Tyr) n.4377G>A n.5033G>A n.5493G>A | gnomAD v4 |
| 7 | g.148810360A>C | CA369712587 | EZH2 | n.3902T>G c.*1064T>G (n.*1064T>G) c.*898T>G (n.*898T>G) n.3721T>G n.2893T>G n.2318T>G n.2380T>G c.2002T>G (p.Cys668Gly) c.1870T>G (p.Cys624Gly) c.1987T>G (p.Cys663Gly) n.254T>G c.1834T>G (p.Cys612Gly) c.1960T>G (p.Cys654Gly) c.*1992T>G (n.*1992T>G) c.2011T>G (p.Cys671Gly) c.1984T>G (p.Cys662Gly) c.1858T>G (p.Cys620Gly) c.2026T>G (p.Cys676Gly) c.1999T>G (p.Cys667Gly) c.1978T>G (p.Cys660Gly) c.1975T>G (p.Cys659Gly) c.1936T>G (p.Cys646Gly) c.1909T>G (p.Cys637Gly) c.1903T>G (p.Cys635Gly) c.1900T>G (p.Cys634Gly) c.1894T>G (p.Cys632Gly) c.1885T>G (p.Cys629Gly) c.1882T>G (p.Cys628Gly) c.1768T>G (p.Cys590Gly) c.1675T>G (p.Cys559Gly) n.515+5275A>C n.722+5275A>C c.1963T>G (p.Cys655Gly) c.1660T>G (p.Cys554Gly) c.1888T>G (p.Cys630Gly) n.4376T>G n.5032T>G n.5492T>G | |
| 7 | g.148810360A>G | CA369712588 | EZH2 | n.3902T>C c.*1064T>C (n.*1064T>C) c.*898T>C (n.*898T>C) n.3721T>C n.2893T>C n.2318T>C n.2380T>C c.2002T>C (p.Cys668Arg) c.1870T>C (p.Cys624Arg) c.1987T>C (p.Cys663Arg) n.254T>C c.1834T>C (p.Cys612Arg) c.1960T>C (p.Cys654Arg) c.*1992T>C (n.*1992T>C) c.2011T>C (p.Cys671Arg) c.1984T>C (p.Cys662Arg) c.1858T>C (p.Cys620Arg) c.2026T>C (p.Cys676Arg) c.1999T>C (p.Cys667Arg) c.1978T>C (p.Cys660Arg) c.1975T>C (p.Cys659Arg) c.1936T>C (p.Cys646Arg) c.1909T>C (p.Cys637Arg) c.1903T>C (p.Cys635Arg) c.1900T>C (p.Cys634Arg) c.1894T>C (p.Cys632Arg) c.1885T>C (p.Cys629Arg) c.1882T>C (p.Cys628Arg) c.1768T>C (p.Cys590Arg) c.1675T>C (p.Cys559Arg) n.515+5275A>G n.722+5275A>G c.1963T>C (p.Cys655Arg) c.1660T>C (p.Cys554Arg) c.1888T>C (p.Cys630Arg) n.4376T>C n.5032T>C n.5492T>C | |
| 7 | g.148810360A>T | CA369712590 | EZH2 | n.3902T>A c.*1064T>A (n.*1064T>A) c.*898T>A (n.*898T>A) n.3721T>A n.2893T>A n.2318T>A n.2380T>A c.2002T>A (p.Cys668Ser) c.1870T>A (p.Cys624Ser) c.1987T>A (p.Cys663Ser) n.254T>A c.1834T>A (p.Cys612Ser) c.1960T>A (p.Cys654Ser) c.*1992T>A (n.*1992T>A) c.2011T>A (p.Cys671Ser) c.1984T>A (p.Cys662Ser) c.1858T>A (p.Cys620Ser) c.2026T>A (p.Cys676Ser) c.1999T>A (p.Cys667Ser) c.1978T>A (p.Cys660Ser) c.1975T>A (p.Cys659Ser) c.1936T>A (p.Cys646Ser) c.1909T>A (p.Cys637Ser) c.1903T>A (p.Cys635Ser) c.1900T>A (p.Cys634Ser) c.1894T>A (p.Cys632Ser) c.1885T>A (p.Cys629Ser) c.1882T>A (p.Cys628Ser) c.1768T>A (p.Cys590Ser) c.1675T>A (p.Cys559Ser) n.515+5275A>T n.722+5275A>T c.1963T>A (p.Cys655Ser) c.1660T>A (p.Cys554Ser) c.1888T>A (p.Cys630Ser) n.4376T>A n.5032T>A n.5492T>A | |
| 7 | g.148810361C>A | CA369712591 | EZH2 | n.3901G>T c.*1063G>T (n.*1063G>T) c.*897G>T (n.*897G>T) n.3720G>T n.2892G>T n.2317G>T n.2379G>T c.2001G>T (p.Met667Ile) c.1869G>T (p.Met623Ile) c.1986G>T (p.Met662Ile) n.253G>T c.1833G>T (p.Met611Ile) c.1959G>T (p.Met653Ile) c.*1991G>T (n.*1991G>T) c.2010G>T (p.Met670Ile) c.1983G>T (p.Met661Ile) c.1857G>T (p.Met619Ile) c.2025G>T (p.Met675Ile) c.1998G>T (p.Met666Ile) c.1977G>T (p.Met659Ile) c.1974G>T (p.Met658Ile) c.1935G>T (p.Met645Ile) c.1908G>T (p.Met636Ile) c.1902G>T (p.Met634Ile) c.1899G>T (p.Met633Ile) c.1893G>T (p.Met631Ile) c.1884G>T (p.Met628Ile) c.1881G>T (p.Met627Ile) c.1767G>T (p.Met589Ile) c.1674G>T (p.Met558Ile) n.515+5276C>A n.722+5276C>A c.1962G>T (p.Met654Ile) c.1659G>T (p.Met553Ile) c.1887G>T (p.Met629Ile) n.4375G>T n.5031G>T n.5491G>T | |
| 7 | g.148810361C>G | CA369712592 | EZH2 | n.3901G>C c.*1063G>C (n.*1063G>C) c.*897G>C (n.*897G>C) n.3720G>C n.2892G>C n.2317G>C n.2379G>C c.2001G>C (p.Met667Ile) c.1869G>C (p.Met623Ile) c.1986G>C (p.Met662Ile) n.253G>C c.1833G>C (p.Met611Ile) c.1959G>C (p.Met653Ile) c.*1991G>C (n.*1991G>C) c.2010G>C (p.Met670Ile) c.1983G>C (p.Met661Ile) c.1857G>C (p.Met619Ile) c.2025G>C (p.Met675Ile) c.1998G>C (p.Met666Ile) c.1977G>C (p.Met659Ile) c.1974G>C (p.Met658Ile) c.1935G>C (p.Met645Ile) c.1908G>C (p.Met636Ile) c.1902G>C (p.Met634Ile) c.1899G>C (p.Met633Ile) c.1893G>C (p.Met631Ile) c.1884G>C (p.Met628Ile) c.1881G>C (p.Met627Ile) c.1767G>C (p.Met589Ile) c.1674G>C (p.Met558Ile) n.515+5276C>G n.722+5276C>G c.1962G>C (p.Met654Ile) c.1659G>C (p.Met553Ile) c.1887G>C (p.Met629Ile) n.4375G>C n.5031G>C n.5491G>C | |
| 7 | g.148810361C>T | CA369712594 | EZH2 | n.3901G>A c.*1063G>A (n.*1063G>A) c.*897G>A (n.*897G>A) n.3720G>A n.2892G>A n.2317G>A n.2379G>A c.2001G>A (p.Met667Ile) c.1869G>A (p.Met623Ile) c.1986G>A (p.Met662Ile) n.253G>A c.1833G>A (p.Met611Ile) c.1959G>A (p.Met653Ile) c.*1991G>A (n.*1991G>A) c.2010G>A (p.Met670Ile) c.1983G>A (p.Met661Ile) c.1857G>A (p.Met619Ile) c.2025G>A (p.Met675Ile) c.1998G>A (p.Met666Ile) c.1977G>A (p.Met659Ile) c.1974G>A (p.Met658Ile) c.1935G>A (p.Met645Ile) c.1908G>A (p.Met636Ile) c.1902G>A (p.Met634Ile) c.1899G>A (p.Met633Ile) c.1893G>A (p.Met631Ile) c.1884G>A (p.Met628Ile) c.1881G>A (p.Met627Ile) c.1767G>A (p.Met589Ile) c.1674G>A (p.Met558Ile) n.515+5276C>T n.722+5276C>T c.1962G>A (p.Met654Ile) c.1659G>A (p.Met553Ile) c.1887G>A (p.Met629Ile) n.4375G>A n.5031G>A n.5491G>A | |
| 7 | g.148810362A= | CA1751422385 | EZH2 | n.3900T= c.*1062T= (n.*1062T=) c.*896T= (n.*896T=) n.3719T= n.2891T= n.2316T= n.2378T= c.2000T= (p.Met667=) c.1868T= (p.Met623=) c.1985T= (p.Met662=) n.252T= c.1832T= (p.Met611=) c.1958T= (p.Met653=) c.*1990T= (n.*1990T=) c.2009T= (p.Met670=) c.1982T= (p.Met661=) c.1856T= (p.Met619=) c.2024T= (p.Met675=) c.1997T= (p.Met666=) c.1976T= (p.Met659=) c.1973T= (p.Met658=) c.1934T= (p.Met645=) c.1907T= (p.Met636=) c.1901T= (p.Met634=) c.1898T= (p.Met633=) c.1892T= (p.Met631=) c.1883T= (p.Met628=) c.1880T= (p.Met627=) c.1766T= (p.Met589=) c.1673T= (p.Met558=) n.515+5277A= n.722+5277A= c.1961T= (p.Met654=) c.1658T= (p.Met553=) c.1886T= (p.Met629=) n.4374T= n.5030T= n.5490T= | |
| 7 | g.148810362A>C | CA369712595 | EZH2 | n.3900T>G c.*1062T>G (n.*1062T>G) c.*896T>G (n.*896T>G) n.3719T>G n.2891T>G n.2316T>G n.2378T>G c.2000T>G (p.Met667Arg) c.1868T>G (p.Met623Arg) c.1985T>G (p.Met662Arg) n.252T>G c.1832T>G (p.Met611Arg) c.1958T>G (p.Met653Arg) c.*1990T>G (n.*1990T>G) c.2009T>G (p.Met670Arg) c.1982T>G (p.Met661Arg) c.1856T>G (p.Met619Arg) c.2024T>G (p.Met675Arg) c.1997T>G (p.Met666Arg) c.1976T>G (p.Met659Arg) c.1973T>G (p.Met658Arg) c.1934T>G (p.Met645Arg) c.1907T>G (p.Met636Arg) c.1901T>G (p.Met634Arg) c.1898T>G (p.Met633Arg) c.1892T>G (p.Met631Arg) c.1883T>G (p.Met628Arg) c.1880T>G (p.Met627Arg) c.1766T>G (p.Met589Arg) c.1673T>G (p.Met558Arg) n.515+5277A>C n.722+5277A>C c.1961T>G (p.Met654Arg) c.1658T>G (p.Met553Arg) c.1886T>G (p.Met629Arg) n.4374T>G n.5030T>G n.5490T>G | |
| 7 | g.148810362A>G | CA369712596 | EZH2 | n.3900T>C c.*1062T>C (n.*1062T>C) c.*896T>C (n.*896T>C) n.3719T>C n.2891T>C n.2316T>C n.2378T>C c.2000T>C (p.Met667Thr) c.1868T>C (p.Met623Thr) c.1985T>C (p.Met662Thr) n.252T>C c.1832T>C (p.Met611Thr) c.1958T>C (p.Met653Thr) c.*1990T>C (n.*1990T>C) c.2009T>C (p.Met670Thr) c.1982T>C (p.Met661Thr) c.1856T>C (p.Met619Thr) c.2024T>C (p.Met675Thr) c.1997T>C (p.Met666Thr) c.1976T>C (p.Met659Thr) c.1973T>C (p.Met658Thr) c.1934T>C (p.Met645Thr) c.1907T>C (p.Met636Thr) c.1901T>C (p.Met634Thr) c.1898T>C (p.Met633Thr) c.1892T>C (p.Met631Thr) c.1883T>C (p.Met628Thr) c.1880T>C (p.Met627Thr) c.1766T>C (p.Met589Thr) c.1673T>C (p.Met558Thr) n.515+5277A>G n.722+5277A>G c.1961T>C (p.Met654Thr) c.1658T>C (p.Met553Thr) c.1886T>C (p.Met629Thr) n.4374T>C n.5030T>C n.5490T>C | ClinVar dbSNP COSMIC COSMIC |
| 7 | g.148810362A>T | CA369712597 | EZH2 | n.3900T>A c.*1062T>A (n.*1062T>A) c.*896T>A (n.*896T>A) n.3719T>A n.2891T>A n.2316T>A n.2378T>A c.2000T>A (p.Met667Lys) c.1868T>A (p.Met623Lys) c.1985T>A (p.Met662Lys) n.252T>A c.1832T>A (p.Met611Lys) c.1958T>A (p.Met653Lys) c.*1990T>A (n.*1990T>A) c.2009T>A (p.Met670Lys) c.1982T>A (p.Met661Lys) c.1856T>A (p.Met619Lys) c.2024T>A (p.Met675Lys) c.1997T>A (p.Met666Lys) c.1976T>A (p.Met659Lys) c.1973T>A (p.Met658Lys) c.1934T>A (p.Met645Lys) c.1907T>A (p.Met636Lys) c.1901T>A (p.Met634Lys) c.1898T>A (p.Met633Lys) c.1892T>A (p.Met631Lys) c.1883T>A (p.Met628Lys) c.1880T>A (p.Met627Lys) c.1766T>A (p.Met589Lys) c.1673T>A (p.Met558Lys) n.515+5277A>T n.722+5277A>T c.1961T>A (p.Met654Lys) c.1658T>A (p.Met553Lys) c.1886T>A (p.Met629Lys) n.4374T>A n.5030T>A n.5490T>A | |
| 7 | g.148810363T>A | CA369712598 | EZH2 | n.3899A>T c.*1061A>T (n.*1061A>T) c.*895A>T (n.*895A>T) n.3718A>T n.2890A>T n.2315A>T n.2377A>T c.1999A>T (p.Met667Leu) c.1867A>T (p.Met623Leu) c.1984A>T (p.Met662Leu) n.251A>T c.1831A>T (p.Met611Leu) c.1957A>T (p.Met653Leu) c.*1989A>T (n.*1989A>T) c.2008A>T (p.Met670Leu) c.1981A>T (p.Met661Leu) c.1855A>T (p.Met619Leu) c.2023A>T (p.Met675Leu) c.1996A>T (p.Met666Leu) c.1975A>T (p.Met659Leu) c.1972A>T (p.Met658Leu) c.1933A>T (p.Met645Leu) c.1906A>T (p.Met636Leu) c.1900A>T (p.Met634Leu) c.1897A>T (p.Met633Leu) c.1891A>T (p.Met631Leu) c.1882A>T (p.Met628Leu) c.1879A>T (p.Met627Leu) c.1765A>T (p.Met589Leu) c.1672A>T (p.Met558Leu) n.515+5278T>A n.722+5278T>A c.1960A>T (p.Met654Leu) c.1657A>T (p.Met553Leu) c.1885A>T (p.Met629Leu) n.4373A>T n.5029A>T n.5489A>T | |
| 7 | g.148810363T>C | CA369712599 | EZH2 | n.3899A>G c.*1061A>G (n.*1061A>G) c.*895A>G (n.*895A>G) n.3718A>G n.2890A>G n.2315A>G n.2377A>G c.1999A>G (p.Met667Val) c.1867A>G (p.Met623Val) c.1984A>G (p.Met662Val) n.251A>G c.1831A>G (p.Met611Val) c.1957A>G (p.Met653Val) c.*1989A>G (n.*1989A>G) c.2008A>G (p.Met670Val) c.1981A>G (p.Met661Val) c.1855A>G (p.Met619Val) c.2023A>G (p.Met675Val) c.1996A>G (p.Met666Val) c.1975A>G (p.Met659Val) c.1972A>G (p.Met658Val) c.1933A>G (p.Met645Val) c.1906A>G (p.Met636Val) c.1900A>G (p.Met634Val) c.1897A>G (p.Met633Val) c.1891A>G (p.Met631Val) c.1882A>G (p.Met628Val) c.1879A>G (p.Met627Val) c.1765A>G (p.Met589Val) c.1672A>G (p.Met558Val) n.515+5278T>C n.722+5278T>C c.1960A>G (p.Met654Val) c.1657A>G (p.Met553Val) c.1885A>G (p.Met629Val) n.4373A>G n.5029A>G n.5489A>G | gnomAD v4 |
| 7 | g.148810363T>G | CA369712600 | EZH2 | n.3899A>C c.*1061A>C (n.*1061A>C) c.*895A>C (n.*895A>C) n.3718A>C n.2890A>C n.2315A>C n.2377A>C c.1999A>C (p.Met667Leu) c.1867A>C (p.Met623Leu) c.1984A>C (p.Met662Leu) n.251A>C c.1831A>C (p.Met611Leu) c.1957A>C (p.Met653Leu) c.*1989A>C (n.*1989A>C) c.2008A>C (p.Met670Leu) c.1981A>C (p.Met661Leu) c.1855A>C (p.Met619Leu) c.2023A>C (p.Met675Leu) c.1996A>C (p.Met666Leu) c.1975A>C (p.Met659Leu) c.1972A>C (p.Met658Leu) c.1933A>C (p.Met645Leu) c.1906A>C (p.Met636Leu) c.1900A>C (p.Met634Leu) c.1897A>C (p.Met633Leu) c.1891A>C (p.Met631Leu) c.1882A>C (p.Met628Leu) c.1879A>C (p.Met627Leu) c.1765A>C (p.Met589Leu) c.1672A>C (p.Met558Leu) n.515+5278T>G n.722+5278T>G c.1960A>C (p.Met654Leu) c.1657A>C (p.Met553Leu) c.1885A>C (p.Met629Leu) n.4373A>C n.5029A>C n.5489A>C | |
| 7 | g.148810364G>A | CA458345772 | EZH2 | n.3898C>T c.*1060C>T (n.*1060C>T) c.*894C>T (n.*894C>T) n.3717C>T n.2889C>T n.2314C>T n.2376C>T c.1998C>T (p.Tyr666=) c.1866C>T (p.Tyr622=) c.1983C>T (p.Tyr661=) n.250C>T c.1830C>T (p.Tyr610=) c.1956C>T (p.Tyr652=) c.*1988C>T (n.*1988C>T) c.2007C>T (p.Tyr669=) c.1980C>T (p.Tyr660=) c.1854C>T (p.Tyr618=) c.2022C>T (p.Tyr674=) c.1995C>T (p.Tyr665=) c.1974C>T (p.Tyr658=) c.1971C>T (p.Tyr657=) c.1932C>T (p.Tyr644=) c.1905C>T (p.Tyr635=) c.1899C>T (p.Tyr633=) c.1896C>T (p.Tyr632=) c.1890C>T (p.Tyr630=) c.1881C>T (p.Tyr627=) c.1878C>T (p.Tyr626=) c.1764C>T (p.Tyr588=) c.1671C>T (p.Tyr557=) n.515+5279G>A n.722+5279G>A c.1959C>T (p.Tyr653=) c.1656C>T (p.Tyr552=) c.1884C>T (p.Tyr628=) n.4372C>T n.5028C>T n.5488C>T | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.148810364G>C | CA369712604 | EZH2 | n.3898C>G c.*1060C>G (n.*1060C>G) c.*894C>G (n.*894C>G) n.3717C>G n.2889C>G n.2314C>G n.2376C>G c.1998C>G (p.Tyr666Ter) c.1866C>G (p.Tyr622Ter) c.1983C>G (p.Tyr661Ter) n.250C>G c.1830C>G (p.Tyr610Ter) c.1956C>G (p.Tyr652Ter) c.*1988C>G (n.*1988C>G) c.2007C>G (p.Tyr669Ter) c.1980C>G (p.Tyr660Ter) c.1854C>G (p.Tyr618Ter) c.2022C>G (p.Tyr674Ter) c.1995C>G (p.Tyr665Ter) c.1974C>G (p.Tyr658Ter) c.1971C>G (p.Tyr657Ter) c.1932C>G (p.Tyr644Ter) c.1905C>G (p.Tyr635Ter) c.1899C>G (p.Tyr633Ter) c.1896C>G (p.Tyr632Ter) c.1890C>G (p.Tyr630Ter) c.1881C>G (p.Tyr627Ter) c.1878C>G (p.Tyr626Ter) c.1764C>G (p.Tyr588Ter) c.1671C>G (p.Tyr557Ter) n.515+5279G>C n.722+5279G>C c.1959C>G (p.Tyr653Ter) c.1656C>G (p.Tyr552Ter) c.1884C>G (p.Tyr628Ter) n.4372C>G n.5028C>G n.5488C>G | |
| 7 | g.148810364G= | CA1751422388 | EZH2 | n.3898C= c.*1060C= (n.*1060C=) c.*894C= (n.*894C=) n.3717C= n.2889C= n.2314C= n.2376C= c.1998C= (p.Tyr666=) c.1866C= (p.Tyr622=) c.1983C= (p.Tyr661=) n.250C= c.1830C= (p.Tyr610=) c.1956C= (p.Tyr652=) c.*1988C= (n.*1988C=) c.2007C= (p.Tyr669=) c.1980C= (p.Tyr660=) c.1854C= (p.Tyr618=) c.2022C= (p.Tyr674=) c.1995C= (p.Tyr665=) c.1974C= (p.Tyr658=) c.1971C= (p.Tyr657=) c.1932C= (p.Tyr644=) c.1905C= (p.Tyr635=) c.1899C= (p.Tyr633=) c.1896C= (p.Tyr632=) c.1890C= (p.Tyr630=) c.1881C= (p.Tyr627=) c.1878C= (p.Tyr626=) c.1764C= (p.Tyr588=) c.1671C= (p.Tyr557=) n.515+5279G= n.722+5279G= c.1959C= (p.Tyr653=) c.1656C= (p.Tyr552=) c.1884C= (p.Tyr628=) n.4372C= n.5028C= n.5488C= | |
| 7 | g.148810364G>T | CA369712602 | EZH2 | n.3898C>A c.*1060C>A (n.*1060C>A) c.*894C>A (n.*894C>A) n.3717C>A n.2889C>A n.2314C>A n.2376C>A c.1998C>A (p.Tyr666Ter) c.1866C>A (p.Tyr622Ter) c.1983C>A (p.Tyr661Ter) n.250C>A c.1830C>A (p.Tyr610Ter) c.1956C>A (p.Tyr652Ter) c.*1988C>A (n.*1988C>A) c.2007C>A (p.Tyr669Ter) c.1980C>A (p.Tyr660Ter) c.1854C>A (p.Tyr618Ter) c.2022C>A (p.Tyr674Ter) c.1995C>A (p.Tyr665Ter) c.1974C>A (p.Tyr658Ter) c.1971C>A (p.Tyr657Ter) c.1932C>A (p.Tyr644Ter) c.1905C>A (p.Tyr635Ter) c.1899C>A (p.Tyr633Ter) c.1896C>A (p.Tyr632Ter) c.1890C>A (p.Tyr630Ter) c.1881C>A (p.Tyr627Ter) c.1878C>A (p.Tyr626Ter) c.1764C>A (p.Tyr588Ter) c.1671C>A (p.Tyr557Ter) n.515+5279G>T n.722+5279G>T c.1959C>A (p.Tyr653Ter) c.1656C>A (p.Tyr552Ter) c.1884C>A (p.Tyr628Ter) n.4372C>A n.5028C>A n.5488C>A | COSMIC COSMIC |
| 7 | g.148810365T>A | CA369712606 | EZH2 | n.3897A>T c.*1059A>T (n.*1059A>T) c.*893A>T (n.*893A>T) n.3716A>T n.2888A>T n.2313A>T n.2375A>T c.1997A>T (p.Tyr666Phe) c.1865A>T (p.Tyr622Phe) c.1982A>T (p.Tyr661Phe) n.249A>T c.1829A>T (p.Tyr610Phe) c.1955A>T (p.Tyr652Phe) c.*1987A>T (n.*1987A>T) c.2006A>T (p.Tyr669Phe) c.1979A>T (p.Tyr660Phe) c.1853A>T (p.Tyr618Phe) c.2021A>T (p.Tyr674Phe) c.1994A>T (p.Tyr665Phe) c.1973A>T (p.Tyr658Phe) c.1970A>T (p.Tyr657Phe) c.1931A>T (p.Tyr644Phe) c.1904A>T (p.Tyr635Phe) c.1898A>T (p.Tyr633Phe) c.1895A>T (p.Tyr632Phe) c.1889A>T (p.Tyr630Phe) c.1880A>T (p.Tyr627Phe) c.1877A>T (p.Tyr626Phe) c.1763A>T (p.Tyr588Phe) c.1670A>T (p.Tyr557Phe) n.515+5280T>A n.722+5280T>A c.1958A>T (p.Tyr653Phe) c.1655A>T (p.Tyr552Phe) c.1883A>T (p.Tyr628Phe) n.4371A>T n.5027A>T n.5487A>T | |
| 7 | g.148810365T>C | CA369712609 | EZH2 | n.3897A>G c.*1059A>G (n.*1059A>G) c.*893A>G (n.*893A>G) n.3716A>G n.2888A>G n.2313A>G n.2375A>G c.1997A>G (p.Tyr666Cys) c.1865A>G (p.Tyr622Cys) c.1982A>G (p.Tyr661Cys) n.249A>G c.1829A>G (p.Tyr610Cys) c.1955A>G (p.Tyr652Cys) c.*1987A>G (n.*1987A>G) c.2006A>G (p.Tyr669Cys) c.1979A>G (p.Tyr660Cys) c.1853A>G (p.Tyr618Cys) c.2021A>G (p.Tyr674Cys) c.1994A>G (p.Tyr665Cys) c.1973A>G (p.Tyr658Cys) c.1970A>G (p.Tyr657Cys) c.1931A>G (p.Tyr644Cys) c.1904A>G (p.Tyr635Cys) c.1898A>G (p.Tyr633Cys) c.1895A>G (p.Tyr632Cys) c.1889A>G (p.Tyr630Cys) c.1880A>G (p.Tyr627Cys) c.1877A>G (p.Tyr626Cys) c.1763A>G (p.Tyr588Cys) c.1670A>G (p.Tyr557Cys) n.515+5280T>C n.722+5280T>C c.1958A>G (p.Tyr653Cys) c.1655A>G (p.Tyr552Cys) c.1883A>G (p.Tyr628Cys) n.4371A>G n.5027A>G n.5487A>G | |
| 7 | g.148810365T>G | CA369712607 | EZH2 | n.3897A>C c.*1059A>C (n.*1059A>C) c.*893A>C (n.*893A>C) n.3716A>C n.2888A>C n.2313A>C n.2375A>C c.1997A>C (p.Tyr666Ser) c.1865A>C (p.Tyr622Ser) c.1982A>C (p.Tyr661Ser) n.249A>C c.1829A>C (p.Tyr610Ser) c.1955A>C (p.Tyr652Ser) c.*1987A>C (n.*1987A>C) c.2006A>C (p.Tyr669Ser) c.1979A>C (p.Tyr660Ser) c.1853A>C (p.Tyr618Ser) c.2021A>C (p.Tyr674Ser) c.1994A>C (p.Tyr665Ser) c.1973A>C (p.Tyr658Ser) c.1970A>C (p.Tyr657Ser) c.1931A>C (p.Tyr644Ser) c.1904A>C (p.Tyr635Ser) c.1898A>C (p.Tyr633Ser) c.1895A>C (p.Tyr632Ser) c.1889A>C (p.Tyr630Ser) c.1880A>C (p.Tyr627Ser) c.1877A>C (p.Tyr626Ser) c.1763A>C (p.Tyr588Ser) c.1670A>C (p.Tyr557Ser) n.515+5280T>G n.722+5280T>G c.1958A>C (p.Tyr653Ser) c.1655A>C (p.Tyr552Ser) c.1883A>C (p.Tyr628Ser) n.4371A>C n.5027A>C n.5487A>C | |
| 7 | g.148810366_148810371del | CA645563943 | EZH2 | n.3892_3897del c.*1054_*1059del (n.*1054_*1059del) c.*888_*893del (n.*888_*893del) n.3711_3716del n.2883_2888del n.2308_2313del n.2370_2375del c.1992_1997del (p.Lys665_Tyr666del) c.1860_1865del (p.Lys621_Tyr622del) c.1977_1982del (p.Lys660_Tyr661del) n.244_249del c.1824_1829del (p.Lys609_Tyr610del) c.1950_1955del (p.Lys651_Tyr652del) c.*1982_*1987del (n.*1982_*1987del) c.2001_2006del (p.Lys668_Tyr669del) c.1974_1979del (p.Lys659_Tyr660del) c.1848_1853del (p.Lys617_Tyr618del) c.2016_2021del (p.Lys673_Tyr674del) c.1989_1994del (p.Lys664_Tyr665del) c.1968_1973del (p.Lys657_Tyr658del) c.1965_1970del (p.Lys656_Tyr657del) c.1926_1931del (p.Lys643_Tyr644del) c.1899_1904del (p.Lys634_Tyr635del) c.1893_1898del (p.Lys632_Tyr633del) c.1890_1895del (p.Lys631_Tyr632del) c.1884_1889del (p.Lys629_Tyr630del) c.1875_1880del (p.Lys626_Tyr627del) c.1872_1877del (p.Lys625_Tyr626del) c.1758_1763del (p.Lys587_Tyr588del) c.1665_1670del (p.Lys556_Tyr557del) n.515+5281_515+5286del n.722+5281_722+5286del c.1953_1958del (p.Lys652_Tyr653del) c.1650_1655del (p.Lys551_Tyr552del) c.1878_1883del (p.Lys627_Tyr628del) n.4366_4371del n.5022_5027del n.5482_5487del | COSMIC |
| 7 | g.148810366A>C | CA369712610 | EZH2 | n.3896T>G c.*1058T>G (n.*1058T>G) c.*892T>G (n.*892T>G) n.3715T>G n.2887T>G n.2312T>G n.2374T>G c.1996T>G (p.Tyr666Asp) c.1864T>G (p.Tyr622Asp) c.1981T>G (p.Tyr661Asp) n.248T>G c.1828T>G (p.Tyr610Asp) c.1954T>G (p.Tyr652Asp) c.*1986T>G (n.*1986T>G) c.2005T>G (p.Tyr669Asp) c.1978T>G (p.Tyr660Asp) c.1852T>G (p.Tyr618Asp) c.2020T>G (p.Tyr674Asp) c.1993T>G (p.Tyr665Asp) c.1972T>G (p.Tyr658Asp) c.1969T>G (p.Tyr657Asp) c.1930T>G (p.Tyr644Asp) c.1903T>G (p.Tyr635Asp) c.1897T>G (p.Tyr633Asp) c.1894T>G (p.Tyr632Asp) c.1888T>G (p.Tyr630Asp) c.1879T>G (p.Tyr627Asp) c.1876T>G (p.Tyr626Asp) c.1762T>G (p.Tyr588Asp) c.1669T>G (p.Tyr557Asp) n.515+5281A>C n.722+5281A>C c.1957T>G (p.Tyr653Asp) c.1654T>G (p.Tyr552Asp) c.1882T>G (p.Tyr628Asp) n.4370T>G n.5026T>G n.5486T>G | |
| 7 | g.148810366A>G | CA369712612 | EZH2 | n.3896T>C c.*1058T>C (n.*1058T>C) c.*892T>C (n.*892T>C) n.3715T>C n.2887T>C n.2312T>C n.2374T>C c.1996T>C (p.Tyr666His) c.1864T>C (p.Tyr622His) c.1981T>C (p.Tyr661His) n.248T>C c.1828T>C (p.Tyr610His) c.1954T>C (p.Tyr652His) c.*1986T>C (n.*1986T>C) c.2005T>C (p.Tyr669His) c.1978T>C (p.Tyr660His) c.1852T>C (p.Tyr618His) c.2020T>C (p.Tyr674His) c.1993T>C (p.Tyr665His) c.1972T>C (p.Tyr658His) c.1969T>C (p.Tyr657His) c.1930T>C (p.Tyr644His) c.1903T>C (p.Tyr635His) c.1897T>C (p.Tyr633His) c.1894T>C (p.Tyr632His) c.1888T>C (p.Tyr630His) c.1879T>C (p.Tyr627His) c.1876T>C (p.Tyr626His) c.1762T>C (p.Tyr588His) c.1669T>C (p.Tyr557His) n.515+5281A>G n.722+5281A>G c.1957T>C (p.Tyr653His) c.1654T>C (p.Tyr552His) c.1882T>C (p.Tyr628His) n.4370T>C n.5026T>C n.5486T>C | |
| 7 | g.148810366A>T | CA369712613 | EZH2 | n.3896T>A c.*1058T>A (n.*1058T>A) c.*892T>A (n.*892T>A) n.3715T>A n.2887T>A n.2312T>A n.2374T>A c.1996T>A (p.Tyr666Asn) c.1864T>A (p.Tyr622Asn) c.1981T>A (p.Tyr661Asn) n.248T>A c.1828T>A (p.Tyr610Asn) c.1954T>A (p.Tyr652Asn) c.*1986T>A (n.*1986T>A) c.2005T>A (p.Tyr669Asn) c.1978T>A (p.Tyr660Asn) c.1852T>A (p.Tyr618Asn) c.2020T>A (p.Tyr674Asn) c.1993T>A (p.Tyr665Asn) c.1972T>A (p.Tyr658Asn) c.1969T>A (p.Tyr657Asn) c.1930T>A (p.Tyr644Asn) c.1903T>A (p.Tyr635Asn) c.1897T>A (p.Tyr633Asn) c.1894T>A (p.Tyr632Asn) c.1888T>A (p.Tyr630Asn) c.1879T>A (p.Tyr627Asn) c.1876T>A (p.Tyr626Asn) c.1762T>A (p.Tyr588Asn) c.1669T>A (p.Tyr557Asn) n.515+5281A>T n.722+5281A>T c.1957T>A (p.Tyr653Asn) c.1654T>A (p.Tyr552Asn) c.1882T>A (p.Tyr628Asn) n.4370T>A n.5026T>A n.5486T>A | COSMIC |
| 7 | g.148810367T>A | CA369712614 | EZH2 | n.3895A>T c.*1057A>T (n.*1057A>T) c.*891A>T (n.*891A>T) n.3714A>T n.2886A>T n.2311A>T n.2373A>T c.1995A>T (p.Lys665Asn) c.1863A>T (p.Lys621Asn) c.1980A>T (p.Lys660Asn) n.247A>T c.1827A>T (p.Lys609Asn) c.1953A>T (p.Lys651Asn) c.*1985A>T (n.*1985A>T) c.2004A>T (p.Lys668Asn) c.1977A>T (p.Lys659Asn) c.1851A>T (p.Lys617Asn) c.2019A>T (p.Lys673Asn) c.1992A>T (p.Lys664Asn) c.1971A>T (p.Lys657Asn) c.1968A>T (p.Lys656Asn) c.1929A>T (p.Lys643Asn) c.1902A>T (p.Lys634Asn) c.1896A>T (p.Lys632Asn) c.1893A>T (p.Lys631Asn) c.1887A>T (p.Lys629Asn) c.1878A>T (p.Lys626Asn) c.1875A>T (p.Lys625Asn) c.1761A>T (p.Lys587Asn) c.1668A>T (p.Lys556Asn) n.515+5282T>A n.722+5282T>A c.1956A>T (p.Lys652Asn) c.1653A>T (p.Lys551Asn) c.1881A>T (p.Lys627Asn) n.4369A>T n.5025A>T n.5485A>T | |
| 7 | g.148810367T>C | CA4547736 | EZH2 | n.3895A>G c.*1057A>G (n.*1057A>G) c.*891A>G (n.*891A>G) n.3714A>G n.2886A>G n.2311A>G n.2373A>G c.1995A>G (p.Lys665=) c.1863A>G (p.Lys621=) c.1980A>G (p.Lys660=) n.247A>G c.1827A>G (p.Lys609=) c.1953A>G (p.Lys651=) c.*1985A>G (n.*1985A>G) c.2004A>G (p.Lys668=) c.1977A>G (p.Lys659=) c.1851A>G (p.Lys617=) c.2019A>G (p.Lys673=) c.1992A>G (p.Lys664=) c.1971A>G (p.Lys657=) c.1968A>G (p.Lys656=) c.1929A>G (p.Lys643=) c.1902A>G (p.Lys634=) c.1896A>G (p.Lys632=) c.1893A>G (p.Lys631=) c.1887A>G (p.Lys629=) c.1878A>G (p.Lys626=) c.1875A>G (p.Lys625=) c.1761A>G (p.Lys587=) c.1668A>G (p.Lys556=) n.515+5282T>C n.722+5282T>C c.1956A>G (p.Lys652=) c.1653A>G (p.Lys551=) c.1881A>G (p.Lys627=) n.4369A>G n.5025A>G n.5485A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.148810367T>G | CA369712616 | EZH2 | n.3895A>C c.*1057A>C (n.*1057A>C) c.*891A>C (n.*891A>C) n.3714A>C n.2886A>C n.2311A>C n.2373A>C c.1995A>C (p.Lys665Asn) c.1863A>C (p.Lys621Asn) c.1980A>C (p.Lys660Asn) n.247A>C c.1827A>C (p.Lys609Asn) c.1953A>C (p.Lys651Asn) c.*1985A>C (n.*1985A>C) c.2004A>C (p.Lys668Asn) c.1977A>C (p.Lys659Asn) c.1851A>C (p.Lys617Asn) c.2019A>C (p.Lys673Asn) c.1992A>C (p.Lys664Asn) c.1971A>C (p.Lys657Asn) c.1968A>C (p.Lys656Asn) c.1929A>C (p.Lys643Asn) c.1902A>C (p.Lys634Asn) c.1896A>C (p.Lys632Asn) c.1893A>C (p.Lys631Asn) c.1887A>C (p.Lys629Asn) c.1878A>C (p.Lys626Asn) c.1875A>C (p.Lys625Asn) c.1761A>C (p.Lys587Asn) c.1668A>C (p.Lys556Asn) n.515+5282T>G n.722+5282T>G c.1956A>C (p.Lys652Asn) c.1653A>C (p.Lys551Asn) c.1881A>C (p.Lys627Asn) n.4369A>C n.5025A>C n.5485A>C | |
| 7 | g.148810367T= | CA1751422392 | EZH2 | n.3895A= c.*1057A= (n.*1057A=) c.*891A= (n.*891A=) n.3714A= n.2886A= n.2311A= n.2373A= c.1995A= (p.Lys665=) c.1863A= (p.Lys621=) c.1980A= (p.Lys660=) n.247A= c.1827A= (p.Lys609=) c.1953A= (p.Lys651=) c.*1985A= (n.*1985A=) c.2004A= (p.Lys668=) c.1977A= (p.Lys659=) c.1851A= (p.Lys617=) c.2019A= (p.Lys673=) c.1992A= (p.Lys664=) c.1971A= (p.Lys657=) c.1968A= (p.Lys656=) c.1929A= (p.Lys643=) c.1902A= (p.Lys634=) c.1896A= (p.Lys632=) c.1893A= (p.Lys631=) c.1887A= (p.Lys629=) c.1878A= (p.Lys626=) c.1875A= (p.Lys625=) c.1761A= (p.Lys587=) c.1668A= (p.Lys556=) n.515+5282T= n.722+5282T= c.1956A= (p.Lys652=) c.1653A= (p.Lys551=) c.1881A= (p.Lys627=) n.4369A= n.5025A= n.5485A= | |
| 7 | g.148810369dup | CA891842042 | EZH2 | n.3895dup c.*1057dup (n.*1057dup) c.*891dup (n.*891dup) n.3714dup n.2886dup n.2311dup n.2373dup c.1995dup (p.Tyr666IlefsTer12) c.1863dup (p.Tyr622IlefsTer12) c.1980dup (p.Tyr661IlefsTer12) n.247dup c.1827dup (p.Tyr610IlefsTer12) c.1953dup (p.Tyr652IlefsTer12) c.*1985dup (n.*1985dup) c.2004dup (p.Tyr669IlefsTer12) c.1977dup (p.Tyr660IlefsTer12) c.1851dup (p.Tyr618IlefsTer12) c.2019dup (p.Tyr674IlefsTer12) c.1992dup (p.Tyr665IlefsTer12) c.1971dup (p.Tyr658IlefsTer12) c.1968dup (p.Tyr657IlefsTer12) c.1929dup (p.Tyr644IlefsTer12) c.1902dup (p.Tyr635IlefsTer12) c.1896dup (p.Tyr633IlefsTer12) c.1893dup (p.Tyr632IlefsTer12) c.1887dup (p.Tyr630IlefsTer12) c.1878dup (p.Tyr627IlefsTer12) c.1875dup (p.Tyr626IlefsTer12) c.1761dup (p.Tyr588IlefsTer12) c.1668dup (p.Tyr557IlefsTer12) n.515+5284dup n.722+5284dup c.1956dup (p.Tyr653IlefsTer12) c.1653dup (p.Tyr552IlefsTer12) c.1881dup (p.Tyr628IlefsTer12) n.4369dup n.5025dup n.5485dup | |
| 7 | g.148810368T>A | CA369712618 | EZH2 | n.3894A>T c.*1056A>T (n.*1056A>T) c.*890A>T (n.*890A>T) n.3713A>T n.2885A>T n.2310A>T n.2372A>T c.1994A>T (p.Lys665Ile) c.1862A>T (p.Lys621Ile) c.1979A>T (p.Lys660Ile) n.246A>T c.1826A>T (p.Lys609Ile) c.1952A>T (p.Lys651Ile) c.*1984A>T (n.*1984A>T) c.2003A>T (p.Lys668Ile) c.1976A>T (p.Lys659Ile) c.1850A>T (p.Lys617Ile) c.2018A>T (p.Lys673Ile) c.1991A>T (p.Lys664Ile) c.1970A>T (p.Lys657Ile) c.1967A>T (p.Lys656Ile) c.1928A>T (p.Lys643Ile) c.1901A>T (p.Lys634Ile) c.1895A>T (p.Lys632Ile) c.1892A>T (p.Lys631Ile) c.1886A>T (p.Lys629Ile) c.1877A>T (p.Lys626Ile) c.1874A>T (p.Lys625Ile) c.1760A>T (p.Lys587Ile) c.1667A>T (p.Lys556Ile) n.515+5283T>A n.722+5283T>A c.1955A>T (p.Lys652Ile) c.1652A>T (p.Lys551Ile) c.1880A>T (p.Lys627Ile) n.4368A>T n.5024A>T n.5484A>T | |
| 7 | g.148810368T>C | CA369712619 | EZH2 | n.3894A>G c.*1056A>G (n.*1056A>G) c.*890A>G (n.*890A>G) n.3713A>G n.2885A>G n.2310A>G n.2372A>G c.1994A>G (p.Lys665Arg) c.1862A>G (p.Lys621Arg) c.1979A>G (p.Lys660Arg) n.246A>G c.1826A>G (p.Lys609Arg) c.1952A>G (p.Lys651Arg) c.*1984A>G (n.*1984A>G) c.2003A>G (p.Lys668Arg) c.1976A>G (p.Lys659Arg) c.1850A>G (p.Lys617Arg) c.2018A>G (p.Lys673Arg) c.1991A>G (p.Lys664Arg) c.1970A>G (p.Lys657Arg) c.1967A>G (p.Lys656Arg) c.1928A>G (p.Lys643Arg) c.1901A>G (p.Lys634Arg) c.1895A>G (p.Lys632Arg) c.1892A>G (p.Lys631Arg) c.1886A>G (p.Lys629Arg) c.1877A>G (p.Lys626Arg) c.1874A>G (p.Lys625Arg) c.1760A>G (p.Lys587Arg) c.1667A>G (p.Lys556Arg) n.515+5283T>C n.722+5283T>C c.1955A>G (p.Lys652Arg) c.1652A>G (p.Lys551Arg) c.1880A>G (p.Lys627Arg) n.4368A>G n.5024A>G n.5484A>G | gnomAD v4 |