| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.148811636A= | CA1751424144 | EZH2 | n.3836T= c.*998T= (n.*998T=) c.*832T= (n.*832T=) n.3655T= n.2827T= n.2252T= n.2314T= c.1936T= (p.Tyr646=) c.1804T= (p.Tyr602=) c.1921T= (p.Tyr641=) n.188T= c.1768T= (p.Tyr590=) c.1894T= (p.Tyr632=) c.*1926T= (n.*1926T=) c.1945T= (p.Tyr649=) c.1918T= (p.Tyr640=) c.1792T= (p.Tyr598=) c.1960T= (p.Tyr654=) c.1933T= (p.Tyr645=) c.1912T= (p.Tyr638=) c.1909T= (p.Tyr637=) c.1870T= (p.Tyr624=) c.1843T= (p.Tyr615=) c.1837T= (p.Tyr613=) c.1834T= (p.Tyr612=) c.1828T= (p.Tyr610=) c.1819T= (p.Tyr607=) c.1816T= (p.Tyr606=) c.1702T= (p.Tyr568=) c.1609T= (p.Tyr537=) n.515+6551A= n.722+6551A= c.1897T= (p.Tyr633=) c.1594T= (p.Tyr532=) c.1822T= (p.Tyr608=) n.4310T= n.4966T= n.5426T= | |
| 7 | g.148811636A>C | CA369713036 | EZH2 | n.3836T>G c.*998T>G (n.*998T>G) c.*832T>G (n.*832T>G) n.3655T>G n.2827T>G n.2252T>G n.2314T>G c.1936T>G (p.Tyr646Asp) c.1804T>G (p.Tyr602Asp) c.1921T>G (p.Tyr641Asp) n.188T>G c.1768T>G (p.Tyr590Asp) c.1894T>G (p.Tyr632Asp) c.*1926T>G (n.*1926T>G) c.1945T>G (p.Tyr649Asp) c.1918T>G (p.Tyr640Asp) c.1792T>G (p.Tyr598Asp) c.1960T>G (p.Tyr654Asp) c.1933T>G (p.Tyr645Asp) c.1912T>G (p.Tyr638Asp) c.1909T>G (p.Tyr637Asp) c.1870T>G (p.Tyr624Asp) c.1843T>G (p.Tyr615Asp) c.1837T>G (p.Tyr613Asp) c.1834T>G (p.Tyr612Asp) c.1828T>G (p.Tyr610Asp) c.1819T>G (p.Tyr607Asp) c.1816T>G (p.Tyr606Asp) c.1702T>G (p.Tyr568Asp) c.1609T>G (p.Tyr537Asp) n.515+6551A>C n.722+6551A>C c.1897T>G (p.Tyr633Asp) c.1594T>G (p.Tyr532Asp) c.1822T>G (p.Tyr608Asp) n.4310T>G n.4966T>G n.5426T>G | dbSNP COSMIC |
| 7 | g.148811636A>G | CA16602260 | EZH2 | n.3836T>C c.*998T>C (n.*998T>C) c.*832T>C (n.*832T>C) n.3655T>C n.2827T>C n.2252T>C n.2314T>C c.1936T>C (p.Tyr646His) c.1804T>C (p.Tyr602His) c.1921T>C (p.Tyr641His) n.188T>C c.1768T>C (p.Tyr590His) c.1894T>C (p.Tyr632His) c.*1926T>C (n.*1926T>C) c.1945T>C (p.Tyr649His) c.1918T>C (p.Tyr640His) c.1792T>C (p.Tyr598His) c.1960T>C (p.Tyr654His) c.1933T>C (p.Tyr645His) c.1912T>C (p.Tyr638His) c.1909T>C (p.Tyr637His) c.1870T>C (p.Tyr624His) c.1843T>C (p.Tyr615His) c.1837T>C (p.Tyr613His) c.1834T>C (p.Tyr612His) c.1828T>C (p.Tyr610His) c.1819T>C (p.Tyr607His) c.1816T>C (p.Tyr606His) c.1702T>C (p.Tyr568His) c.1609T>C (p.Tyr537His) n.515+6551A>G n.722+6551A>G c.1897T>C (p.Tyr633His) c.1594T>C (p.Tyr532His) c.1822T>C (p.Tyr608His) n.4310T>C n.4966T>C n.5426T>C | ClinVar dbSNP COSMIC COSMIC |
| 7 | g.148811636A>T | CA16602670 | EZH2 | n.3836T>A c.*998T>A (n.*998T>A) c.*832T>A (n.*832T>A) n.3655T>A n.2827T>A n.2252T>A n.2314T>A c.1936T>A (p.Tyr646Asn) c.1804T>A (p.Tyr602Asn) c.1921T>A (p.Tyr641Asn) n.188T>A c.1768T>A (p.Tyr590Asn) c.1894T>A (p.Tyr632Asn) c.*1926T>A (n.*1926T>A) c.1945T>A (p.Tyr649Asn) c.1918T>A (p.Tyr640Asn) c.1792T>A (p.Tyr598Asn) c.1960T>A (p.Tyr654Asn) c.1933T>A (p.Tyr645Asn) c.1912T>A (p.Tyr638Asn) c.1909T>A (p.Tyr637Asn) c.1870T>A (p.Tyr624Asn) c.1843T>A (p.Tyr615Asn) c.1837T>A (p.Tyr613Asn) c.1834T>A (p.Tyr612Asn) c.1828T>A (p.Tyr610Asn) c.1819T>A (p.Tyr607Asn) c.1816T>A (p.Tyr606Asn) c.1702T>A (p.Tyr568Asn) c.1609T>A (p.Tyr537Asn) n.515+6551A>T n.722+6551A>T c.1897T>A (p.Tyr633Asn) c.1594T>A (p.Tyr532Asn) c.1822T>A (p.Tyr608Asn) n.4310T>A n.4966T>A n.5426T>A | ClinVar dbSNP COSMIC COSMIC |
| 7 | g.148811637T>A | CA369713037 | EZH2 | n.3835A>T c.*997A>T (n.*997A>T) c.*831A>T (n.*831A>T) n.3654A>T n.2826A>T n.2251A>T n.2313A>T c.1935A>T (p.Glu645Asp) c.1803A>T (p.Glu601Asp) c.1920A>T (p.Glu640Asp) n.187A>T c.1767A>T (p.Glu589Asp) c.1893A>T (p.Glu631Asp) c.*1925A>T (n.*1925A>T) c.1944A>T (p.Glu648Asp) c.1917A>T (p.Glu639Asp) c.1791A>T (p.Glu597Asp) c.1959A>T (p.Glu653Asp) c.1932A>T (p.Glu644Asp) c.1911A>T (p.Glu637Asp) c.1908A>T (p.Glu636Asp) c.1869A>T (p.Glu623Asp) c.1842A>T (p.Glu614Asp) c.1836A>T (p.Glu612Asp) c.1833A>T (p.Glu611Asp) c.1827A>T (p.Glu609Asp) c.1818A>T (p.Glu606Asp) c.1815A>T (p.Glu605Asp) c.1701A>T (p.Glu567Asp) c.1608A>T (p.Glu536Asp) n.515+6552T>A n.722+6552T>A c.1896A>T (p.Glu632Asp) c.1593A>T (p.Glu531Asp) c.1821A>T (p.Glu607Asp) n.4309A>T n.4965A>T n.5425A>T | |
| 7 | g.148811637T>C | CA458345808 | EZH2 | n.3835A>G c.*997A>G (n.*997A>G) c.*831A>G (n.*831A>G) n.3654A>G n.2826A>G n.2251A>G n.2313A>G c.1935A>G (p.Glu645=) c.1803A>G (p.Glu601=) c.1920A>G (p.Glu640=) n.187A>G c.1767A>G (p.Glu589=) c.1893A>G (p.Glu631=) c.*1925A>G (n.*1925A>G) c.1944A>G (p.Glu648=) c.1917A>G (p.Glu639=) c.1791A>G (p.Glu597=) c.1959A>G (p.Glu653=) c.1932A>G (p.Glu644=) c.1911A>G (p.Glu637=) c.1908A>G (p.Glu636=) c.1869A>G (p.Glu623=) c.1842A>G (p.Glu614=) c.1836A>G (p.Glu612=) c.1833A>G (p.Glu611=) c.1827A>G (p.Glu609=) c.1818A>G (p.Glu606=) c.1815A>G (p.Glu605=) c.1701A>G (p.Glu567=) c.1608A>G (p.Glu536=) n.515+6552T>C n.722+6552T>C c.1896A>G (p.Glu632=) c.1593A>G (p.Glu531=) c.1821A>G (p.Glu607=) n.4309A>G n.4965A>G n.5425A>G | dbSNP COSMIC COSMIC |
| 7 | g.148811637T>G | CA369713038 | EZH2 | n.3835A>C c.*997A>C (n.*997A>C) c.*831A>C (n.*831A>C) n.3654A>C n.2826A>C n.2251A>C n.2313A>C c.1935A>C (p.Glu645Asp) c.1803A>C (p.Glu601Asp) c.1920A>C (p.Glu640Asp) n.187A>C c.1767A>C (p.Glu589Asp) c.1893A>C (p.Glu631Asp) c.*1925A>C (n.*1925A>C) c.1944A>C (p.Glu648Asp) c.1917A>C (p.Glu639Asp) c.1791A>C (p.Glu597Asp) c.1959A>C (p.Glu653Asp) c.1932A>C (p.Glu644Asp) c.1911A>C (p.Glu637Asp) c.1908A>C (p.Glu636Asp) c.1869A>C (p.Glu623Asp) c.1842A>C (p.Glu614Asp) c.1836A>C (p.Glu612Asp) c.1833A>C (p.Glu611Asp) c.1827A>C (p.Glu609Asp) c.1818A>C (p.Glu606Asp) c.1815A>C (p.Glu605Asp) c.1701A>C (p.Glu567Asp) c.1608A>C (p.Glu536Asp) n.515+6552T>G n.722+6552T>G c.1896A>C (p.Glu632Asp) c.1593A>C (p.Glu531Asp) c.1821A>C (p.Glu607Asp) n.4309A>C n.4965A>C n.5425A>C | |
| 7 | g.148811638T>A | CA369713039 | EZH2 | n.3834A>T c.*996A>T (n.*996A>T) c.*830A>T (n.*830A>T) n.3653A>T n.2825A>T n.2250A>T n.2312A>T c.1934A>T (p.Glu645Val) c.1802A>T (p.Glu601Val) c.1919A>T (p.Glu640Val) n.186A>T c.1766A>T (p.Glu589Val) c.1892A>T (p.Glu631Val) c.*1924A>T (n.*1924A>T) c.1943A>T (p.Glu648Val) c.1916A>T (p.Glu639Val) c.1790A>T (p.Glu597Val) c.1958A>T (p.Glu653Val) c.1931A>T (p.Glu644Val) c.1910A>T (p.Glu637Val) c.1907A>T (p.Glu636Val) c.1868A>T (p.Glu623Val) c.1841A>T (p.Glu614Val) c.1835A>T (p.Glu612Val) c.1832A>T (p.Glu611Val) c.1826A>T (p.Glu609Val) c.1817A>T (p.Glu606Val) c.1814A>T (p.Glu605Val) c.1700A>T (p.Glu567Val) c.1607A>T (p.Glu536Val) n.515+6553T>A n.722+6553T>A c.1895A>T (p.Glu632Val) c.1592A>T (p.Glu531Val) c.1820A>T (p.Glu607Val) n.4308A>T n.4964A>T n.5424A>T | |
| 7 | g.148811638T>C | CA369713040 | EZH2 | n.3834A>G c.*996A>G (n.*996A>G) c.*830A>G (n.*830A>G) n.3653A>G n.2825A>G n.2250A>G n.2312A>G c.1934A>G (p.Glu645Gly) c.1802A>G (p.Glu601Gly) c.1919A>G (p.Glu640Gly) n.186A>G c.1766A>G (p.Glu589Gly) c.1892A>G (p.Glu631Gly) c.*1924A>G (n.*1924A>G) c.1943A>G (p.Glu648Gly) c.1916A>G (p.Glu639Gly) c.1790A>G (p.Glu597Gly) c.1958A>G (p.Glu653Gly) c.1931A>G (p.Glu644Gly) c.1910A>G (p.Glu637Gly) c.1907A>G (p.Glu636Gly) c.1868A>G (p.Glu623Gly) c.1841A>G (p.Glu614Gly) c.1835A>G (p.Glu612Gly) c.1832A>G (p.Glu611Gly) c.1826A>G (p.Glu609Gly) c.1817A>G (p.Glu606Gly) c.1814A>G (p.Glu605Gly) c.1700A>G (p.Glu567Gly) c.1607A>G (p.Glu536Gly) n.515+6553T>C n.722+6553T>C c.1895A>G (p.Glu632Gly) c.1592A>G (p.Glu531Gly) c.1820A>G (p.Glu607Gly) n.4308A>G n.4964A>G n.5424A>G | |
| 7 | g.148811638T>G | CA369713041 | EZH2 | n.3834A>C c.*996A>C (n.*996A>C) c.*830A>C (n.*830A>C) n.3653A>C n.2825A>C n.2250A>C n.2312A>C c.1934A>C (p.Glu645Ala) c.1802A>C (p.Glu601Ala) c.1919A>C (p.Glu640Ala) n.186A>C c.1766A>C (p.Glu589Ala) c.1892A>C (p.Glu631Ala) c.*1924A>C (n.*1924A>C) c.1943A>C (p.Glu648Ala) c.1916A>C (p.Glu639Ala) c.1790A>C (p.Glu597Ala) c.1958A>C (p.Glu653Ala) c.1931A>C (p.Glu644Ala) c.1910A>C (p.Glu637Ala) c.1907A>C (p.Glu636Ala) c.1868A>C (p.Glu623Ala) c.1841A>C (p.Glu614Ala) c.1835A>C (p.Glu612Ala) c.1832A>C (p.Glu611Ala) c.1826A>C (p.Glu609Ala) c.1817A>C (p.Glu606Ala) c.1814A>C (p.Glu605Ala) c.1700A>C (p.Glu567Ala) c.1607A>C (p.Glu536Ala) n.515+6553T>G n.722+6553T>G c.1895A>C (p.Glu632Ala) c.1592A>C (p.Glu531Ala) c.1820A>C (p.Glu607Ala) n.4308A>C n.4964A>C n.5424A>C | dbSNP |
| 7 | g.148811639C>A | CA369713042 | EZH2 | n.3833G>T c.*995G>T (n.*995G>T) c.*829G>T (n.*829G>T) n.3652G>T n.2824G>T n.2249G>T n.2311G>T c.1933G>T (p.Glu645Ter) c.1801G>T (p.Glu601Ter) c.1918G>T (p.Glu640Ter) n.185G>T c.1765G>T (p.Glu589Ter) c.1891G>T (p.Glu631Ter) c.*1923G>T (n.*1923G>T) c.1942G>T (p.Glu648Ter) c.1915G>T (p.Glu639Ter) c.1789G>T (p.Glu597Ter) c.1957G>T (p.Glu653Ter) c.1930G>T (p.Glu644Ter) c.1909G>T (p.Glu637Ter) c.1906G>T (p.Glu636Ter) c.1867G>T (p.Glu623Ter) c.1840G>T (p.Glu614Ter) c.1834G>T (p.Glu612Ter) c.1831G>T (p.Glu611Ter) c.1825G>T (p.Glu609Ter) c.1816G>T (p.Glu606Ter) c.1813G>T (p.Glu605Ter) c.1699G>T (p.Glu567Ter) c.1606G>T (p.Glu536Ter) n.515+6554C>A n.722+6554C>A c.1894G>T (p.Glu632Ter) c.1591G>T (p.Glu531Ter) c.1819G>T (p.Glu607Ter) n.4307G>T n.4963G>T n.5423G>T | dbSNP |
| 7 | g.148811639C>G | CA369713043 | EZH2 | n.3833G>C c.*995G>C (n.*995G>C) c.*829G>C (n.*829G>C) n.3652G>C n.2824G>C n.2249G>C n.2311G>C c.1933G>C (p.Glu645Gln) c.1801G>C (p.Glu601Gln) c.1918G>C (p.Glu640Gln) n.185G>C c.1765G>C (p.Glu589Gln) c.1891G>C (p.Glu631Gln) c.*1923G>C (n.*1923G>C) c.1942G>C (p.Glu648Gln) c.1915G>C (p.Glu639Gln) c.1789G>C (p.Glu597Gln) c.1957G>C (p.Glu653Gln) c.1930G>C (p.Glu644Gln) c.1909G>C (p.Glu637Gln) c.1906G>C (p.Glu636Gln) c.1867G>C (p.Glu623Gln) c.1840G>C (p.Glu614Gln) c.1834G>C (p.Glu612Gln) c.1831G>C (p.Glu611Gln) c.1825G>C (p.Glu609Gln) c.1816G>C (p.Glu606Gln) c.1813G>C (p.Glu605Gln) c.1699G>C (p.Glu567Gln) c.1606G>C (p.Glu536Gln) n.515+6554C>G n.722+6554C>G c.1894G>C (p.Glu632Gln) c.1591G>C (p.Glu531Gln) c.1819G>C (p.Glu607Gln) n.4307G>C n.4963G>C n.5423G>C | dbSNP |
| 7 | g.148811639C>T | CA369713044 | EZH2 | n.3833G>A c.*995G>A (n.*995G>A) c.*829G>A (n.*829G>A) n.3652G>A n.2824G>A n.2249G>A n.2311G>A c.1933G>A (p.Glu645Lys) c.1801G>A (p.Glu601Lys) c.1918G>A (p.Glu640Lys) n.185G>A c.1765G>A (p.Glu589Lys) c.1891G>A (p.Glu631Lys) c.*1923G>A (n.*1923G>A) c.1942G>A (p.Glu648Lys) c.1915G>A (p.Glu639Lys) c.1789G>A (p.Glu597Lys) c.1957G>A (p.Glu653Lys) c.1930G>A (p.Glu644Lys) c.1909G>A (p.Glu637Lys) c.1906G>A (p.Glu636Lys) c.1867G>A (p.Glu623Lys) c.1840G>A (p.Glu614Lys) c.1834G>A (p.Glu612Lys) c.1831G>A (p.Glu611Lys) c.1825G>A (p.Glu609Lys) c.1816G>A (p.Glu606Lys) c.1813G>A (p.Glu605Lys) c.1699G>A (p.Glu567Lys) c.1606G>A (p.Glu536Lys) n.515+6554C>T n.722+6554C>T c.1894G>A (p.Glu632Lys) c.1591G>A (p.Glu531Lys) c.1819G>A (p.Glu607Lys) n.4307G>A n.4963G>A n.5423G>A | dbSNP COSMIC |
| 7 | g.148811640T>A | CA458345809 | EZH2 | n.3832A>T c.*994A>T (n.*994A>T) c.*828A>T (n.*828A>T) n.3651A>T n.2823A>T n.2248A>T n.2310A>T c.1932A>T (p.Ser644=) c.1800A>T (p.Ser600=) c.1917A>T (p.Ser639=) n.184A>T c.1764A>T (p.Ser588=) c.1890A>T (p.Ser630=) c.*1922A>T (n.*1922A>T) c.1941A>T (p.Ser647=) c.1914A>T (p.Ser638=) c.1788A>T (p.Ser596=) c.1956A>T (p.Ser652=) c.1929A>T (p.Ser643=) c.1908A>T (p.Ser636=) c.1905A>T (p.Ser635=) c.1866A>T (p.Ser622=) c.1839A>T (p.Ser613=) c.1833A>T (p.Ser611=) c.1830A>T (p.Ser610=) c.1824A>T (p.Ser608=) c.1815A>T (p.Ser605=) c.1812A>T (p.Ser604=) c.1698A>T (p.Ser566=) c.1605A>T (p.Ser535=) n.515+6555T>A n.722+6555T>A c.1893A>T (p.Ser631=) c.1590A>T (p.Ser530=) c.1818A>T (p.Ser606=) n.4306A>T n.4962A>T n.5422A>T | |
| 7 | g.148811640T>C | CA458345810 | EZH2 | n.3832A>G c.*994A>G (n.*994A>G) c.*828A>G (n.*828A>G) n.3651A>G n.2823A>G n.2248A>G n.2310A>G c.1932A>G (p.Ser644=) c.1800A>G (p.Ser600=) c.1917A>G (p.Ser639=) n.184A>G c.1764A>G (p.Ser588=) c.1890A>G (p.Ser630=) c.*1922A>G (n.*1922A>G) c.1941A>G (p.Ser647=) c.1914A>G (p.Ser638=) c.1788A>G (p.Ser596=) c.1956A>G (p.Ser652=) c.1929A>G (p.Ser643=) c.1908A>G (p.Ser636=) c.1905A>G (p.Ser635=) c.1866A>G (p.Ser622=) c.1839A>G (p.Ser613=) c.1833A>G (p.Ser611=) c.1830A>G (p.Ser610=) c.1824A>G (p.Ser608=) c.1815A>G (p.Ser605=) c.1812A>G (p.Ser604=) c.1698A>G (p.Ser566=) c.1605A>G (p.Ser535=) n.515+6555T>C n.722+6555T>C c.1893A>G (p.Ser631=) c.1590A>G (p.Ser530=) c.1818A>G (p.Ser606=) n.4306A>G n.4962A>G n.5422A>G | |
| 7 | g.148811640T>G | CA458345811 | EZH2 | n.3832A>C c.*994A>C (n.*994A>C) c.*828A>C (n.*828A>C) n.3651A>C n.2823A>C n.2248A>C n.2310A>C c.1932A>C (p.Ser644=) c.1800A>C (p.Ser600=) c.1917A>C (p.Ser639=) n.184A>C c.1764A>C (p.Ser588=) c.1890A>C (p.Ser630=) c.*1922A>C (n.*1922A>C) c.1941A>C (p.Ser647=) c.1914A>C (p.Ser638=) c.1788A>C (p.Ser596=) c.1956A>C (p.Ser652=) c.1929A>C (p.Ser643=) c.1908A>C (p.Ser636=) c.1905A>C (p.Ser635=) c.1866A>C (p.Ser622=) c.1839A>C (p.Ser613=) c.1833A>C (p.Ser611=) c.1830A>C (p.Ser610=) c.1824A>C (p.Ser608=) c.1815A>C (p.Ser605=) c.1812A>C (p.Ser604=) c.1698A>C (p.Ser566=) c.1605A>C (p.Ser535=) n.515+6555T>G n.722+6555T>G c.1893A>C (p.Ser631=) c.1590A>C (p.Ser530=) c.1818A>C (p.Ser606=) n.4306A>C n.4962A>C n.5422A>C | |
| 7 | g.148811641G>A | CA369713045 | EZH2 | n.3831C>T c.*993C>T (n.*993C>T) c.*827C>T (n.*827C>T) n.3650C>T n.2822C>T n.2247C>T n.2309C>T c.1931C>T (p.Ser644Leu) c.1799C>T (p.Ser600Leu) c.1916C>T (p.Ser639Leu) n.183C>T c.1763C>T (p.Ser588Leu) c.1889C>T (p.Ser630Leu) c.*1921C>T (n.*1921C>T) c.1940C>T (p.Ser647Leu) c.1913C>T (p.Ser638Leu) c.1787C>T (p.Ser596Leu) c.1955C>T (p.Ser652Leu) c.1928C>T (p.Ser643Leu) c.1907C>T (p.Ser636Leu) c.1904C>T (p.Ser635Leu) c.1865C>T (p.Ser622Leu) c.1838C>T (p.Ser613Leu) c.1832C>T (p.Ser611Leu) c.1829C>T (p.Ser610Leu) c.1823C>T (p.Ser608Leu) c.1814C>T (p.Ser605Leu) c.1811C>T (p.Ser604Leu) c.1697C>T (p.Ser566Leu) c.1604C>T (p.Ser535Leu) n.515+6556G>A n.722+6556G>A c.1892C>T (p.Ser631Leu) c.1589C>T (p.Ser530Leu) c.1817C>T (p.Ser606Leu) n.4305C>T n.4961C>T n.5421C>T | dbSNP |
| 7 | g.148811641G>C | CA369713046 | EZH2 | n.3831C>G c.*993C>G (n.*993C>G) c.*827C>G (n.*827C>G) n.3650C>G n.2822C>G n.2247C>G n.2309C>G c.1931C>G (p.Ser644Ter) c.1799C>G (p.Ser600Ter) c.1916C>G (p.Ser639Ter) n.183C>G c.1763C>G (p.Ser588Ter) c.1889C>G (p.Ser630Ter) c.*1921C>G (n.*1921C>G) c.1940C>G (p.Ser647Ter) c.1913C>G (p.Ser638Ter) c.1787C>G (p.Ser596Ter) c.1955C>G (p.Ser652Ter) c.1928C>G (p.Ser643Ter) c.1907C>G (p.Ser636Ter) c.1904C>G (p.Ser635Ter) c.1865C>G (p.Ser622Ter) c.1838C>G (p.Ser613Ter) c.1832C>G (p.Ser611Ter) c.1829C>G (p.Ser610Ter) c.1823C>G (p.Ser608Ter) c.1814C>G (p.Ser605Ter) c.1811C>G (p.Ser604Ter) c.1697C>G (p.Ser566Ter) c.1604C>G (p.Ser535Ter) n.515+6556G>C n.722+6556G>C c.1892C>G (p.Ser631Ter) c.1589C>G (p.Ser530Ter) c.1817C>G (p.Ser606Ter) n.4305C>G n.4961C>G n.5421C>G | dbSNP COSMIC COSMIC |
| 7 | g.148811641G>T | CA369713047 | EZH2 | n.3831C>A c.*993C>A (n.*993C>A) c.*827C>A (n.*827C>A) n.3650C>A n.2822C>A n.2247C>A n.2309C>A c.1931C>A (p.Ser644Ter) c.1799C>A (p.Ser600Ter) c.1916C>A (p.Ser639Ter) n.183C>A c.1763C>A (p.Ser588Ter) c.1889C>A (p.Ser630Ter) c.*1921C>A (n.*1921C>A) c.1940C>A (p.Ser647Ter) c.1913C>A (p.Ser638Ter) c.1787C>A (p.Ser596Ter) c.1955C>A (p.Ser652Ter) c.1928C>A (p.Ser643Ter) c.1907C>A (p.Ser636Ter) c.1904C>A (p.Ser635Ter) c.1865C>A (p.Ser622Ter) c.1838C>A (p.Ser613Ter) c.1832C>A (p.Ser611Ter) c.1829C>A (p.Ser610Ter) c.1823C>A (p.Ser608Ter) c.1814C>A (p.Ser605Ter) c.1811C>A (p.Ser604Ter) c.1697C>A (p.Ser566Ter) c.1604C>A (p.Ser535Ter) n.515+6556G>T n.722+6556G>T c.1892C>A (p.Ser631Ter) c.1589C>A (p.Ser530Ter) c.1817C>A (p.Ser606Ter) n.4305C>A n.4961C>A n.5421C>A | |
| 7 | g.148811642A>C | CA369713049 | EZH2 | n.3830T>G c.*992T>G (n.*992T>G) c.*826T>G (n.*826T>G) n.3649T>G n.2821T>G n.2246T>G n.2308T>G c.1930T>G (p.Ser644Ala) c.1798T>G (p.Ser600Ala) c.1915T>G (p.Ser639Ala) n.182T>G c.1762T>G (p.Ser588Ala) c.1888T>G (p.Ser630Ala) c.*1920T>G (n.*1920T>G) c.1939T>G (p.Ser647Ala) c.1912T>G (p.Ser638Ala) c.1786T>G (p.Ser596Ala) c.1954T>G (p.Ser652Ala) c.1927T>G (p.Ser643Ala) c.1906T>G (p.Ser636Ala) c.1903T>G (p.Ser635Ala) c.1864T>G (p.Ser622Ala) c.1837T>G (p.Ser613Ala) c.1831T>G (p.Ser611Ala) c.1828T>G (p.Ser610Ala) c.1822T>G (p.Ser608Ala) c.1813T>G (p.Ser605Ala) c.1810T>G (p.Ser604Ala) c.1696T>G (p.Ser566Ala) c.1603T>G (p.Ser535Ala) n.515+6557A>C n.722+6557A>C c.1891T>G (p.Ser631Ala) c.1588T>G (p.Ser530Ala) c.1816T>G (p.Ser606Ala) n.4304T>G n.4960T>G n.5420T>G | |
| 7 | g.148811642A>G | CA369713050 | EZH2 | n.3830T>C c.*992T>C (n.*992T>C) c.*826T>C (n.*826T>C) n.3649T>C n.2821T>C n.2246T>C n.2308T>C c.1930T>C (p.Ser644Pro) c.1798T>C (p.Ser600Pro) c.1915T>C (p.Ser639Pro) n.182T>C c.1762T>C (p.Ser588Pro) c.1888T>C (p.Ser630Pro) c.*1920T>C (n.*1920T>C) c.1939T>C (p.Ser647Pro) c.1912T>C (p.Ser638Pro) c.1786T>C (p.Ser596Pro) c.1954T>C (p.Ser652Pro) c.1927T>C (p.Ser643Pro) c.1906T>C (p.Ser636Pro) c.1903T>C (p.Ser635Pro) c.1864T>C (p.Ser622Pro) c.1837T>C (p.Ser613Pro) c.1831T>C (p.Ser611Pro) c.1828T>C (p.Ser610Pro) c.1822T>C (p.Ser608Pro) c.1813T>C (p.Ser605Pro) c.1810T>C (p.Ser604Pro) c.1696T>C (p.Ser566Pro) c.1603T>C (p.Ser535Pro) n.515+6557A>G n.722+6557A>G c.1891T>C (p.Ser631Pro) c.1588T>C (p.Ser530Pro) c.1816T>C (p.Ser606Pro) n.4304T>C n.4960T>C n.5420T>C | dbSNP |
| 7 | g.148811642A>T | CA369713048 | EZH2 | n.3830T>A c.*992T>A (n.*992T>A) c.*826T>A (n.*826T>A) n.3649T>A n.2821T>A n.2246T>A n.2308T>A c.1930T>A (p.Ser644Thr) c.1798T>A (p.Ser600Thr) c.1915T>A (p.Ser639Thr) n.182T>A c.1762T>A (p.Ser588Thr) c.1888T>A (p.Ser630Thr) c.*1920T>A (n.*1920T>A) c.1939T>A (p.Ser647Thr) c.1912T>A (p.Ser638Thr) c.1786T>A (p.Ser596Thr) c.1954T>A (p.Ser652Thr) c.1927T>A (p.Ser643Thr) c.1906T>A (p.Ser636Thr) c.1903T>A (p.Ser635Thr) c.1864T>A (p.Ser622Thr) c.1837T>A (p.Ser613Thr) c.1831T>A (p.Ser611Thr) c.1828T>A (p.Ser610Thr) c.1822T>A (p.Ser608Thr) c.1813T>A (p.Ser605Thr) c.1810T>A (p.Ser604Thr) c.1696T>A (p.Ser566Thr) c.1603T>A (p.Ser535Thr) n.515+6557A>T n.722+6557A>T c.1891T>A (p.Ser631Thr) c.1588T>A (p.Ser530Thr) c.1816T>A (p.Ser606Thr) n.4304T>A n.4960T>A n.5420T>A | dbSNP |
| 7 | g.148811643G>A | CA458345812 | EZH2 | n.3829C>T c.*991C>T (n.*991C>T) c.*825C>T (n.*825C>T) n.3648C>T n.2820C>T n.2245C>T n.2307C>T c.1929C>T (p.Ile643=) c.1797C>T (p.Ile599=) c.1914C>T (p.Ile638=) n.181C>T c.1761C>T (p.Ile587=) c.1887C>T (p.Ile629=) c.*1919C>T (n.*1919C>T) c.1938C>T (p.Ile646=) c.1911C>T (p.Ile637=) c.1785C>T (p.Ile595=) c.1953C>T (p.Ile651=) c.1926C>T (p.Ile642=) c.1905C>T (p.Ile635=) c.1902C>T (p.Ile634=) c.1863C>T (p.Ile621=) c.1836C>T (p.Ile612=) c.1830C>T (p.Ile610=) c.1827C>T (p.Ile609=) c.1821C>T (p.Ile607=) c.1812C>T (p.Ile604=) c.1809C>T (p.Ile603=) c.1695C>T (p.Ile565=) c.1602C>T (p.Ile534=) n.515+6558G>A n.722+6558G>A c.1890C>T (p.Ile630=) c.1587C>T (p.Ile529=) c.1815C>T (p.Ile605=) n.4303C>T n.4959C>T n.5419C>T | dbSNP |
| 7 | g.148811643G>C | CA369713051 | EZH2 | n.3829C>G c.*991C>G (n.*991C>G) c.*825C>G (n.*825C>G) n.3648C>G n.2820C>G n.2245C>G n.2307C>G c.1929C>G (p.Ile643Met) c.1797C>G (p.Ile599Met) c.1914C>G (p.Ile638Met) n.181C>G c.1761C>G (p.Ile587Met) c.1887C>G (p.Ile629Met) c.*1919C>G (n.*1919C>G) c.1938C>G (p.Ile646Met) c.1911C>G (p.Ile637Met) c.1785C>G (p.Ile595Met) c.1953C>G (p.Ile651Met) c.1926C>G (p.Ile642Met) c.1905C>G (p.Ile635Met) c.1902C>G (p.Ile634Met) c.1863C>G (p.Ile621Met) c.1836C>G (p.Ile612Met) c.1830C>G (p.Ile610Met) c.1827C>G (p.Ile609Met) c.1821C>G (p.Ile607Met) c.1812C>G (p.Ile604Met) c.1809C>G (p.Ile603Met) c.1695C>G (p.Ile565Met) c.1602C>G (p.Ile534Met) n.515+6558G>C n.722+6558G>C c.1890C>G (p.Ile630Met) c.1587C>G (p.Ile529Met) c.1815C>G (p.Ile605Met) n.4303C>G n.4959C>G n.5419C>G | dbSNP |
| 7 | g.148811643G>T | CA458345813 | EZH2 | n.3829C>A c.*991C>A (n.*991C>A) c.*825C>A (n.*825C>A) n.3648C>A n.2820C>A n.2245C>A n.2307C>A c.1929C>A (p.Ile643=) c.1797C>A (p.Ile599=) c.1914C>A (p.Ile638=) n.181C>A c.1761C>A (p.Ile587=) c.1887C>A (p.Ile629=) c.*1919C>A (n.*1919C>A) c.1938C>A (p.Ile646=) c.1911C>A (p.Ile637=) c.1785C>A (p.Ile595=) c.1953C>A (p.Ile651=) c.1926C>A (p.Ile642=) c.1905C>A (p.Ile635=) c.1902C>A (p.Ile634=) c.1863C>A (p.Ile621=) c.1836C>A (p.Ile612=) c.1830C>A (p.Ile610=) c.1827C>A (p.Ile609=) c.1821C>A (p.Ile607=) c.1812C>A (p.Ile604=) c.1809C>A (p.Ile603=) c.1695C>A (p.Ile565=) c.1602C>A (p.Ile534=) n.515+6558G>T n.722+6558G>T c.1890C>A (p.Ile630=) c.1587C>A (p.Ile529=) c.1815C>A (p.Ile605=) n.4303C>A n.4959C>A n.5419C>A | |
| 7 | g.148811644A>C | CA369713052 | EZH2 | n.3828T>G c.*990T>G (n.*990T>G) c.*824T>G (n.*824T>G) n.3647T>G n.2819T>G n.2244T>G n.2306T>G c.1928T>G (p.Ile643Ser) c.1796T>G (p.Ile599Ser) c.1913T>G (p.Ile638Ser) n.180T>G c.1760T>G (p.Ile587Ser) c.1886T>G (p.Ile629Ser) c.*1918T>G (n.*1918T>G) c.1937T>G (p.Ile646Ser) c.1910T>G (p.Ile637Ser) c.1784T>G (p.Ile595Ser) c.1952T>G (p.Ile651Ser) c.1925T>G (p.Ile642Ser) c.1904T>G (p.Ile635Ser) c.1901T>G (p.Ile634Ser) c.1862T>G (p.Ile621Ser) c.1835T>G (p.Ile612Ser) c.1829T>G (p.Ile610Ser) c.1826T>G (p.Ile609Ser) c.1820T>G (p.Ile607Ser) c.1811T>G (p.Ile604Ser) c.1808T>G (p.Ile603Ser) c.1694T>G (p.Ile565Ser) c.1601T>G (p.Ile534Ser) n.515+6559A>C n.722+6559A>C c.1889T>G (p.Ile630Ser) c.1586T>G (p.Ile529Ser) c.1814T>G (p.Ile605Ser) n.4302T>G n.4958T>G n.5418T>G | |
| 7 | g.148811644A>G | CA369713053 | EZH2 | n.3828T>C c.*990T>C (n.*990T>C) c.*824T>C (n.*824T>C) n.3647T>C n.2819T>C n.2244T>C n.2306T>C c.1928T>C (p.Ile643Thr) c.1796T>C (p.Ile599Thr) c.1913T>C (p.Ile638Thr) n.180T>C c.1760T>C (p.Ile587Thr) c.1886T>C (p.Ile629Thr) c.*1918T>C (n.*1918T>C) c.1937T>C (p.Ile646Thr) c.1910T>C (p.Ile637Thr) c.1784T>C (p.Ile595Thr) c.1952T>C (p.Ile651Thr) c.1925T>C (p.Ile642Thr) c.1904T>C (p.Ile635Thr) c.1901T>C (p.Ile634Thr) c.1862T>C (p.Ile621Thr) c.1835T>C (p.Ile612Thr) c.1829T>C (p.Ile610Thr) c.1826T>C (p.Ile609Thr) c.1820T>C (p.Ile607Thr) c.1811T>C (p.Ile604Thr) c.1808T>C (p.Ile603Thr) c.1694T>C (p.Ile565Thr) c.1601T>C (p.Ile534Thr) n.515+6559A>G n.722+6559A>G c.1889T>C (p.Ile630Thr) c.1586T>C (p.Ile529Thr) c.1814T>C (p.Ile605Thr) n.4302T>C n.4958T>C n.5418T>C | |
| 7 | g.148811644A>T | CA369713054 | EZH2 | n.3828T>A c.*990T>A (n.*990T>A) c.*824T>A (n.*824T>A) n.3647T>A n.2819T>A n.2244T>A n.2306T>A c.1928T>A (p.Ile643Asn) c.1796T>A (p.Ile599Asn) c.1913T>A (p.Ile638Asn) n.180T>A c.1760T>A (p.Ile587Asn) c.1886T>A (p.Ile629Asn) c.*1918T>A (n.*1918T>A) c.1937T>A (p.Ile646Asn) c.1910T>A (p.Ile637Asn) c.1784T>A (p.Ile595Asn) c.1952T>A (p.Ile651Asn) c.1925T>A (p.Ile642Asn) c.1904T>A (p.Ile635Asn) c.1901T>A (p.Ile634Asn) c.1862T>A (p.Ile621Asn) c.1835T>A (p.Ile612Asn) c.1829T>A (p.Ile610Asn) c.1826T>A (p.Ile609Asn) c.1820T>A (p.Ile607Asn) c.1811T>A (p.Ile604Asn) c.1808T>A (p.Ile603Asn) c.1694T>A (p.Ile565Asn) c.1601T>A (p.Ile534Asn) n.515+6559A>T n.722+6559A>T c.1889T>A (p.Ile630Asn) c.1586T>A (p.Ile529Asn) c.1814T>A (p.Ile605Asn) n.4302T>A n.4958T>A n.5418T>A | dbSNP |
| 7 | g.148811645T>A | CA369713055 | EZH2 | n.3827A>T c.*989A>T (n.*989A>T) c.*823A>T (n.*823A>T) n.3646A>T n.2818A>T n.2243A>T n.2305A>T c.1927A>T (p.Ile643Phe) c.1795A>T (p.Ile599Phe) c.1912A>T (p.Ile638Phe) n.179A>T c.1759A>T (p.Ile587Phe) c.1885A>T (p.Ile629Phe) c.*1917A>T (n.*1917A>T) c.1936A>T (p.Ile646Phe) c.1909A>T (p.Ile637Phe) c.1783A>T (p.Ile595Phe) c.1951A>T (p.Ile651Phe) c.1924A>T (p.Ile642Phe) c.1903A>T (p.Ile635Phe) c.1900A>T (p.Ile634Phe) c.1861A>T (p.Ile621Phe) c.1834A>T (p.Ile612Phe) c.1828A>T (p.Ile610Phe) c.1825A>T (p.Ile609Phe) c.1819A>T (p.Ile607Phe) c.1810A>T (p.Ile604Phe) c.1807A>T (p.Ile603Phe) c.1693A>T (p.Ile565Phe) c.1600A>T (p.Ile534Phe) n.515+6560T>A n.722+6560T>A c.1888A>T (p.Ile630Phe) c.1585A>T (p.Ile529Phe) c.1813A>T (p.Ile605Phe) n.4301A>T n.4957A>T n.5417A>T | dbSNP |
| 7 | g.148811645T>C | CA369713056 | EZH2 | n.3827A>G c.*989A>G (n.*989A>G) c.*823A>G (n.*823A>G) n.3646A>G n.2818A>G n.2243A>G n.2305A>G c.1927A>G (p.Ile643Val) c.1795A>G (p.Ile599Val) c.1912A>G (p.Ile638Val) n.179A>G c.1759A>G (p.Ile587Val) c.1885A>G (p.Ile629Val) c.*1917A>G (n.*1917A>G) c.1936A>G (p.Ile646Val) c.1909A>G (p.Ile637Val) c.1783A>G (p.Ile595Val) c.1951A>G (p.Ile651Val) c.1924A>G (p.Ile642Val) c.1903A>G (p.Ile635Val) c.1900A>G (p.Ile634Val) c.1861A>G (p.Ile621Val) c.1834A>G (p.Ile612Val) c.1828A>G (p.Ile610Val) c.1825A>G (p.Ile609Val) c.1819A>G (p.Ile607Val) c.1810A>G (p.Ile604Val) c.1807A>G (p.Ile603Val) c.1693A>G (p.Ile565Val) c.1600A>G (p.Ile534Val) n.515+6560T>C n.722+6560T>C c.1888A>G (p.Ile630Val) c.1585A>G (p.Ile529Val) c.1813A>G (p.Ile605Val) n.4301A>G n.4957A>G n.5417A>G | |
| 7 | g.148811645T>G | CA369713057 | EZH2 | n.3827A>C c.*989A>C (n.*989A>C) c.*823A>C (n.*823A>C) n.3646A>C n.2818A>C n.2243A>C n.2305A>C c.1927A>C (p.Ile643Leu) c.1795A>C (p.Ile599Leu) c.1912A>C (p.Ile638Leu) n.179A>C c.1759A>C (p.Ile587Leu) c.1885A>C (p.Ile629Leu) c.*1917A>C (n.*1917A>C) c.1936A>C (p.Ile646Leu) c.1909A>C (p.Ile637Leu) c.1783A>C (p.Ile595Leu) c.1951A>C (p.Ile651Leu) c.1924A>C (p.Ile642Leu) c.1903A>C (p.Ile635Leu) c.1900A>C (p.Ile634Leu) c.1861A>C (p.Ile621Leu) c.1834A>C (p.Ile612Leu) c.1828A>C (p.Ile610Leu) c.1825A>C (p.Ile609Leu) c.1819A>C (p.Ile607Leu) c.1810A>C (p.Ile604Leu) c.1807A>C (p.Ile603Leu) c.1693A>C (p.Ile565Leu) c.1600A>C (p.Ile534Leu) n.515+6560T>G n.722+6560T>G c.1888A>C (p.Ile630Leu) c.1585A>C (p.Ile529Leu) c.1813A>C (p.Ile605Leu) n.4301A>C n.4957A>C n.5417A>C | ClinVar |
| 7 | g.148811646G>A | CA458345814 | EZH2 | n.3826C>T c.*988C>T (n.*988C>T) c.*822C>T (n.*822C>T) n.3645C>T n.2817C>T n.2242C>T n.2304C>T c.1926C>T (p.Phe642=) c.1794C>T (p.Phe598=) c.1911C>T (p.Phe637=) n.178C>T c.1758C>T (p.Phe586=) c.1884C>T (p.Phe628=) c.*1916C>T (n.*1916C>T) c.1935C>T (p.Phe645=) c.1908C>T (p.Phe636=) c.1782C>T (p.Phe594=) c.1950C>T (p.Phe650=) c.1923C>T (p.Phe641=) c.1902C>T (p.Phe634=) c.1899C>T (p.Phe633=) c.1860C>T (p.Phe620=) c.1833C>T (p.Phe611=) c.1827C>T (p.Phe609=) c.1824C>T (p.Phe608=) c.1818C>T (p.Phe606=) c.1809C>T (p.Phe603=) c.1806C>T (p.Phe602=) c.1692C>T (p.Phe564=) c.1599C>T (p.Phe533=) n.515+6561G>A n.722+6561G>A c.1887C>T (p.Phe629=) c.1584C>T (p.Phe528=) c.1812C>T (p.Phe604=) n.4300C>T n.4956C>T n.5416C>T | dbSNP |
| 7 | g.148811646G>C | CA369713058 | EZH2 | n.3826C>G c.*988C>G (n.*988C>G) c.*822C>G (n.*822C>G) n.3645C>G n.2817C>G n.2242C>G n.2304C>G c.1926C>G (p.Phe642Leu) c.1794C>G (p.Phe598Leu) c.1911C>G (p.Phe637Leu) n.178C>G c.1758C>G (p.Phe586Leu) c.1884C>G (p.Phe628Leu) c.*1916C>G (n.*1916C>G) c.1935C>G (p.Phe645Leu) c.1908C>G (p.Phe636Leu) c.1782C>G (p.Phe594Leu) c.1950C>G (p.Phe650Leu) c.1923C>G (p.Phe641Leu) c.1902C>G (p.Phe634Leu) c.1899C>G (p.Phe633Leu) c.1860C>G (p.Phe620Leu) c.1833C>G (p.Phe611Leu) c.1827C>G (p.Phe609Leu) c.1824C>G (p.Phe608Leu) c.1818C>G (p.Phe606Leu) c.1809C>G (p.Phe603Leu) c.1806C>G (p.Phe602Leu) c.1692C>G (p.Phe564Leu) c.1599C>G (p.Phe533Leu) n.515+6561G>C n.722+6561G>C c.1887C>G (p.Phe629Leu) c.1584C>G (p.Phe528Leu) c.1812C>G (p.Phe604Leu) n.4300C>G n.4956C>G n.5416C>G | dbSNP |
| 7 | g.148811646G>T | CA369713059 | EZH2 | n.3826C>A c.*988C>A (n.*988C>A) c.*822C>A (n.*822C>A) n.3645C>A n.2817C>A n.2242C>A n.2304C>A c.1926C>A (p.Phe642Leu) c.1794C>A (p.Phe598Leu) c.1911C>A (p.Phe637Leu) n.178C>A c.1758C>A (p.Phe586Leu) c.1884C>A (p.Phe628Leu) c.*1916C>A (n.*1916C>A) c.1935C>A (p.Phe645Leu) c.1908C>A (p.Phe636Leu) c.1782C>A (p.Phe594Leu) c.1950C>A (p.Phe650Leu) c.1923C>A (p.Phe641Leu) c.1902C>A (p.Phe634Leu) c.1899C>A (p.Phe633Leu) c.1860C>A (p.Phe620Leu) c.1833C>A (p.Phe611Leu) c.1827C>A (p.Phe609Leu) c.1824C>A (p.Phe608Leu) c.1818C>A (p.Phe606Leu) c.1809C>A (p.Phe603Leu) c.1806C>A (p.Phe602Leu) c.1692C>A (p.Phe564Leu) c.1599C>A (p.Phe533Leu) n.515+6561G>T n.722+6561G>T c.1887C>A (p.Phe629Leu) c.1584C>A (p.Phe528Leu) c.1812C>A (p.Phe604Leu) n.4300C>A n.4956C>A n.5416C>A | dbSNP gnomAD v4 |
| 7 | g.148811647A>C | CA369713060 | EZH2 | n.3825T>G c.*987T>G (n.*987T>G) c.*821T>G (n.*821T>G) n.3644T>G n.2816T>G n.2241T>G n.2303T>G c.1925T>G (p.Phe642Cys) c.1793T>G (p.Phe598Cys) c.1910T>G (p.Phe637Cys) n.177T>G c.1757T>G (p.Phe586Cys) c.1883T>G (p.Phe628Cys) c.*1915T>G (n.*1915T>G) c.1934T>G (p.Phe645Cys) c.1907T>G (p.Phe636Cys) c.1781T>G (p.Phe594Cys) c.1949T>G (p.Phe650Cys) c.1922T>G (p.Phe641Cys) c.1901T>G (p.Phe634Cys) c.1898T>G (p.Phe633Cys) c.1859T>G (p.Phe620Cys) c.1832T>G (p.Phe611Cys) c.1826T>G (p.Phe609Cys) c.1823T>G (p.Phe608Cys) c.1817T>G (p.Phe606Cys) c.1808T>G (p.Phe603Cys) c.1805T>G (p.Phe602Cys) c.1691T>G (p.Phe564Cys) c.1598T>G (p.Phe533Cys) n.515+6562A>C n.722+6562A>C c.1886T>G (p.Phe629Cys) c.1583T>G (p.Phe528Cys) c.1811T>G (p.Phe604Cys) n.4299T>G n.4955T>G n.5415T>G | dbSNP |
| 7 | g.148811647A>G | CA369713061 | EZH2 | n.3825T>C c.*987T>C (n.*987T>C) c.*821T>C (n.*821T>C) n.3644T>C n.2816T>C n.2241T>C n.2303T>C c.1925T>C (p.Phe642Ser) c.1793T>C (p.Phe598Ser) c.1910T>C (p.Phe637Ser) n.177T>C c.1757T>C (p.Phe586Ser) c.1883T>C (p.Phe628Ser) c.*1915T>C (n.*1915T>C) c.1934T>C (p.Phe645Ser) c.1907T>C (p.Phe636Ser) c.1781T>C (p.Phe594Ser) c.1949T>C (p.Phe650Ser) c.1922T>C (p.Phe641Ser) c.1901T>C (p.Phe634Ser) c.1898T>C (p.Phe633Ser) c.1859T>C (p.Phe620Ser) c.1832T>C (p.Phe611Ser) c.1826T>C (p.Phe609Ser) c.1823T>C (p.Phe608Ser) c.1817T>C (p.Phe606Ser) c.1808T>C (p.Phe603Ser) c.1805T>C (p.Phe602Ser) c.1691T>C (p.Phe564Ser) c.1598T>C (p.Phe533Ser) n.515+6562A>G n.722+6562A>G c.1886T>C (p.Phe629Ser) c.1583T>C (p.Phe528Ser) c.1811T>C (p.Phe604Ser) n.4299T>C n.4955T>C n.5415T>C | |
| 7 | g.148811647A>T | CA369713062 | EZH2 | n.3825T>A c.*987T>A (n.*987T>A) c.*821T>A (n.*821T>A) n.3644T>A n.2816T>A n.2241T>A n.2303T>A c.1925T>A (p.Phe642Tyr) c.1793T>A (p.Phe598Tyr) c.1910T>A (p.Phe637Tyr) n.177T>A c.1757T>A (p.Phe586Tyr) c.1883T>A (p.Phe628Tyr) c.*1915T>A (n.*1915T>A) c.1934T>A (p.Phe645Tyr) c.1907T>A (p.Phe636Tyr) c.1781T>A (p.Phe594Tyr) c.1949T>A (p.Phe650Tyr) c.1922T>A (p.Phe641Tyr) c.1901T>A (p.Phe634Tyr) c.1898T>A (p.Phe633Tyr) c.1859T>A (p.Phe620Tyr) c.1832T>A (p.Phe611Tyr) c.1826T>A (p.Phe609Tyr) c.1823T>A (p.Phe608Tyr) c.1817T>A (p.Phe606Tyr) c.1808T>A (p.Phe603Tyr) c.1805T>A (p.Phe602Tyr) c.1691T>A (p.Phe564Tyr) c.1598T>A (p.Phe533Tyr) n.515+6562A>T n.722+6562A>T c.1886T>A (p.Phe629Tyr) c.1583T>A (p.Phe528Tyr) c.1811T>A (p.Phe604Tyr) n.4299T>A n.4955T>A n.5415T>A | dbSNP |
| 7 | g.148811648A= | CA1751424145 | EZH2 | n.3824T= c.*986T= (n.*986T=) c.*820T= (n.*820T=) n.3643T= n.2815T= n.2240T= n.2302T= c.1924T= (p.Phe642=) c.1792T= (p.Phe598=) c.1909T= (p.Phe637=) n.176T= c.1756T= (p.Phe586=) c.1882T= (p.Phe628=) c.*1914T= (n.*1914T=) c.1933T= (p.Phe645=) c.1906T= (p.Phe636=) c.1780T= (p.Phe594=) c.1948T= (p.Phe650=) c.1921T= (p.Phe641=) c.1900T= (p.Phe634=) c.1897T= (p.Phe633=) c.1858T= (p.Phe620=) c.1831T= (p.Phe611=) c.1825T= (p.Phe609=) c.1822T= (p.Phe608=) c.1816T= (p.Phe606=) c.1807T= (p.Phe603=) c.1804T= (p.Phe602=) c.1690T= (p.Phe564=) c.1597T= (p.Phe533=) n.515+6563A= n.722+6563A= c.1885T= (p.Phe629=) c.1582T= (p.Phe528=) c.1810T= (p.Phe604=) n.4298T= n.4954T= n.5414T= | |
| 7 | g.148811648A>C | CA369713065 | EZH2 | n.3824T>G c.*986T>G (n.*986T>G) c.*820T>G (n.*820T>G) n.3643T>G n.2815T>G n.2240T>G n.2302T>G c.1924T>G (p.Phe642Val) c.1792T>G (p.Phe598Val) c.1909T>G (p.Phe637Val) n.176T>G c.1756T>G (p.Phe586Val) c.1882T>G (p.Phe628Val) c.*1914T>G (n.*1914T>G) c.1933T>G (p.Phe645Val) c.1906T>G (p.Phe636Val) c.1780T>G (p.Phe594Val) c.1948T>G (p.Phe650Val) c.1921T>G (p.Phe641Val) c.1900T>G (p.Phe634Val) c.1897T>G (p.Phe633Val) c.1858T>G (p.Phe620Val) c.1831T>G (p.Phe611Val) c.1825T>G (p.Phe609Val) c.1822T>G (p.Phe608Val) c.1816T>G (p.Phe606Val) c.1807T>G (p.Phe603Val) c.1804T>G (p.Phe602Val) c.1690T>G (p.Phe564Val) c.1597T>G (p.Phe533Val) n.515+6563A>C n.722+6563A>C c.1885T>G (p.Phe629Val) c.1582T>G (p.Phe528Val) c.1810T>G (p.Phe604Val) n.4298T>G n.4954T>G n.5414T>G | |
| 7 | g.148811648A>G | CA369713064 | EZH2 | n.3824T>C c.*986T>C (n.*986T>C) c.*820T>C (n.*820T>C) n.3643T>C n.2815T>C n.2240T>C n.2302T>C c.1924T>C (p.Phe642Leu) c.1792T>C (p.Phe598Leu) c.1909T>C (p.Phe637Leu) n.176T>C c.1756T>C (p.Phe586Leu) c.1882T>C (p.Phe628Leu) c.*1914T>C (n.*1914T>C) c.1933T>C (p.Phe645Leu) c.1906T>C (p.Phe636Leu) c.1780T>C (p.Phe594Leu) c.1948T>C (p.Phe650Leu) c.1921T>C (p.Phe641Leu) c.1900T>C (p.Phe634Leu) c.1897T>C (p.Phe633Leu) c.1858T>C (p.Phe620Leu) c.1831T>C (p.Phe611Leu) c.1825T>C (p.Phe609Leu) c.1822T>C (p.Phe608Leu) c.1816T>C (p.Phe606Leu) c.1807T>C (p.Phe603Leu) c.1804T>C (p.Phe602Leu) c.1690T>C (p.Phe564Leu) c.1597T>C (p.Phe533Leu) n.515+6563A>G n.722+6563A>G c.1885T>C (p.Phe629Leu) c.1582T>C (p.Phe528Leu) c.1810T>C (p.Phe604Leu) n.4298T>C n.4954T>C n.5414T>C | |
| 7 | g.148811648A>T | CA369713063 | EZH2 | n.3824T>A c.*986T>A (n.*986T>A) c.*820T>A (n.*820T>A) n.3643T>A n.2815T>A n.2240T>A n.2302T>A c.1924T>A (p.Phe642Ile) c.1792T>A (p.Phe598Ile) c.1909T>A (p.Phe637Ile) n.176T>A c.1756T>A (p.Phe586Ile) c.1882T>A (p.Phe628Ile) c.*1914T>A (n.*1914T>A) c.1933T>A (p.Phe645Ile) c.1906T>A (p.Phe636Ile) c.1780T>A (p.Phe594Ile) c.1948T>A (p.Phe650Ile) c.1921T>A (p.Phe641Ile) c.1900T>A (p.Phe634Ile) c.1897T>A (p.Phe633Ile) c.1858T>A (p.Phe620Ile) c.1831T>A (p.Phe611Ile) c.1825T>A (p.Phe609Ile) c.1822T>A (p.Phe608Ile) c.1816T>A (p.Phe606Ile) c.1807T>A (p.Phe603Ile) c.1804T>A (p.Phe602Ile) c.1690T>A (p.Phe564Ile) c.1597T>A (p.Phe533Ile) n.515+6563A>T n.722+6563A>T c.1885T>A (p.Phe629Ile) c.1582T>A (p.Phe528Ile) c.1810T>A (p.Phe604Ile) n.4298T>A n.4954T>A n.5414T>A | dbSNP |
| 7 | g.148811649T>A | CA369713066 | EZH2 | n.3823A>T c.*985A>T (n.*985A>T) c.*819A>T (n.*819A>T) n.3642A>T n.2814A>T n.2239A>T n.2301A>T c.1923A>T (p.Glu641Asp) c.1791A>T (p.Glu597Asp) c.1908A>T (p.Glu636Asp) n.175A>T c.1755A>T (p.Glu585Asp) c.1881A>T (p.Glu627Asp) c.*1913A>T (n.*1913A>T) c.1932A>T (p.Glu644Asp) c.1905A>T (p.Glu635Asp) c.1779A>T (p.Glu593Asp) c.1947A>T (p.Glu649Asp) c.1920A>T (p.Glu640Asp) c.1899A>T (p.Glu633Asp) c.1896A>T (p.Glu632Asp) c.1857A>T (p.Glu619Asp) c.1830A>T (p.Glu610Asp) c.1824A>T (p.Glu608Asp) c.1821A>T (p.Glu607Asp) c.1815A>T (p.Glu605Asp) c.1806A>T (p.Glu602Asp) c.1803A>T (p.Glu601Asp) c.1689A>T (p.Glu563Asp) c.1596A>T (p.Glu532Asp) n.515+6564T>A n.722+6564T>A c.1884A>T (p.Glu628Asp) c.1581A>T (p.Glu527Asp) c.1809A>T (p.Glu603Asp) n.4297A>T n.4953A>T n.5413A>T | dbSNP |
| 7 | g.148811649T>C | CA458345815 | EZH2 | n.3823A>G c.*985A>G (n.*985A>G) c.*819A>G (n.*819A>G) n.3642A>G n.2814A>G n.2239A>G n.2301A>G c.1923A>G (p.Glu641=) c.1791A>G (p.Glu597=) c.1908A>G (p.Glu636=) n.175A>G c.1755A>G (p.Glu585=) c.1881A>G (p.Glu627=) c.*1913A>G (n.*1913A>G) c.1932A>G (p.Glu644=) c.1905A>G (p.Glu635=) c.1779A>G (p.Glu593=) c.1947A>G (p.Glu649=) c.1920A>G (p.Glu640=) c.1899A>G (p.Glu633=) c.1896A>G (p.Glu632=) c.1857A>G (p.Glu619=) c.1830A>G (p.Glu610=) c.1824A>G (p.Glu608=) c.1821A>G (p.Glu607=) c.1815A>G (p.Glu605=) c.1806A>G (p.Glu602=) c.1803A>G (p.Glu601=) c.1689A>G (p.Glu563=) c.1596A>G (p.Glu532=) n.515+6564T>C n.722+6564T>C c.1884A>G (p.Glu628=) c.1581A>G (p.Glu527=) c.1809A>G (p.Glu603=) n.4297A>G n.4953A>G n.5413A>G | gnomAD v4 |
| 7 | g.148811649T>G | CA369713067 | EZH2 | n.3823A>C c.*985A>C (n.*985A>C) c.*819A>C (n.*819A>C) n.3642A>C n.2814A>C n.2239A>C n.2301A>C c.1923A>C (p.Glu641Asp) c.1791A>C (p.Glu597Asp) c.1908A>C (p.Glu636Asp) n.175A>C c.1755A>C (p.Glu585Asp) c.1881A>C (p.Glu627Asp) c.*1913A>C (n.*1913A>C) c.1932A>C (p.Glu644Asp) c.1905A>C (p.Glu635Asp) c.1779A>C (p.Glu593Asp) c.1947A>C (p.Glu649Asp) c.1920A>C (p.Glu640Asp) c.1899A>C (p.Glu633Asp) c.1896A>C (p.Glu632Asp) c.1857A>C (p.Glu619Asp) c.1830A>C (p.Glu610Asp) c.1824A>C (p.Glu608Asp) c.1821A>C (p.Glu607Asp) c.1815A>C (p.Glu605Asp) c.1806A>C (p.Glu602Asp) c.1803A>C (p.Glu601Asp) c.1689A>C (p.Glu563Asp) c.1596A>C (p.Glu532Asp) n.515+6564T>G n.722+6564T>G c.1884A>C (p.Glu628Asp) c.1581A>C (p.Glu527Asp) c.1809A>C (p.Glu603Asp) n.4297A>C n.4953A>C n.5413A>C | dbSNP |
| 7 | g.148811651_148811671dup | CA1751424146 | EZH2 | n.3803_3823dup c.*965_*985dup (n.*965_*985dup) c.*799_*819dup (n.*799_*819dup) n.3622_3642dup n.2794_2814dup n.2219_2239dup n.2281_2301dup c.1903_1923dup (p.Glu641_Phe642insAspProValGlnLysAsnGlu) c.1771_1791dup (p.Glu597_Phe598insAspProValGlnLysAsnGlu) c.1888_1908dup (p.Glu636_Phe637insAspProValGlnLysAsnGlu) n.155_175dup c.1735_1755dup (p.Glu585_Phe586insAspProValGlnLysAsnGlu) c.1861_1881dup (p.Glu627_Phe628insAspProValGlnLysAsnGlu) c.*1893_*1913dup (n.*1893_*1913dup) c.1912_1932dup (p.Glu644_Phe645insAspProValGlnLysAsnGlu) c.1885_1905dup (p.Glu635_Phe636insAspProValGlnLysAsnGlu) c.1759_1779dup (p.Glu593_Phe594insAspProValGlnLysAsnGlu) c.1927_1947dup (p.Glu649_Phe650insAspProValGlnLysAsnGlu) c.1900_1920dup (p.Glu640_Phe641insAspProValGlnLysAsnGlu) c.1879_1899dup (p.Glu633_Phe634insAspProValGlnLysAsnGlu) c.1876_1896dup (p.Glu632_Phe633insAspProValGlnLysAsnGlu) c.1837_1857dup (p.Glu619_Phe620insAspProValGlnLysAsnGlu) c.1810_1830dup (p.Glu610_Phe611insAspProValGlnLysAsnGlu) c.1804_1824dup (p.Glu608_Phe609insAspProValGlnLysAsnGlu) c.1801_1821dup (p.Glu607_Phe608insAspProValGlnLysAsnGlu) c.1795_1815dup (p.Glu605_Phe606insAspProValGlnLysAsnGlu) c.1786_1806dup (p.Glu602_Phe603insAspProValGlnLysAsnGlu) c.1783_1803dup (p.Glu601_Phe602insAspProValGlnLysAsnGlu) c.1669_1689dup (p.Glu563_Phe564insAspProValGlnLysAsnGlu) c.1576_1596dup (p.Glu532_Phe533insAspProValGlnLysAsnGlu) n.515+6566_515+6586dup n.722+6566_722+6586dup c.1864_1884dup (p.Glu628_Phe629insAspProValGlnLysAsnGlu) c.1561_1581dup (p.Glu527_Phe528insAspProValGlnLysAsnGlu) c.1789_1809dup (p.Glu603_Phe604insAspProValGlnLysAsnGlu) n.4277_4297dup n.4933_4953dup n.5393_5413dup | dbSNP |
| 7 | g.148811650T>A | CA16602849 | EZH2 | n.3822A>T c.*984A>T (n.*984A>T) c.*818A>T (n.*818A>T) n.3641A>T n.2813A>T n.2238A>T n.2300A>T c.1922A>T (p.Glu641Val) c.1790A>T (p.Glu597Val) c.1907A>T (p.Glu636Val) n.174A>T c.1754A>T (p.Glu585Val) c.1880A>T (p.Glu627Val) c.*1912A>T (n.*1912A>T) c.1931A>T (p.Glu644Val) c.1904A>T (p.Glu635Val) c.1778A>T (p.Glu593Val) c.1946A>T (p.Glu649Val) c.1919A>T (p.Glu640Val) c.1898A>T (p.Glu633Val) c.1895A>T (p.Glu632Val) c.1856A>T (p.Glu619Val) c.1829A>T (p.Glu610Val) c.1823A>T (p.Glu608Val) c.1820A>T (p.Glu607Val) c.1814A>T (p.Glu605Val) c.1805A>T (p.Glu602Val) c.1802A>T (p.Glu601Val) c.1688A>T (p.Glu563Val) c.1595A>T (p.Glu532Val) n.515+6565T>A n.722+6565T>A c.1883A>T (p.Glu628Val) c.1580A>T (p.Glu527Val) c.1808A>T (p.Glu603Val) n.4296A>T n.4952A>T n.5412A>T | ClinVar dbSNP COSMIC |
| 7 | g.148811650T>C | CA369713068 | EZH2 | n.3822A>G c.*984A>G (n.*984A>G) c.*818A>G (n.*818A>G) n.3641A>G n.2813A>G n.2238A>G n.2300A>G c.1922A>G (p.Glu641Gly) c.1790A>G (p.Glu597Gly) c.1907A>G (p.Glu636Gly) n.174A>G c.1754A>G (p.Glu585Gly) c.1880A>G (p.Glu627Gly) c.*1912A>G (n.*1912A>G) c.1931A>G (p.Glu644Gly) c.1904A>G (p.Glu635Gly) c.1778A>G (p.Glu593Gly) c.1946A>G (p.Glu649Gly) c.1919A>G (p.Glu640Gly) c.1898A>G (p.Glu633Gly) c.1895A>G (p.Glu632Gly) c.1856A>G (p.Glu619Gly) c.1829A>G (p.Glu610Gly) c.1823A>G (p.Glu608Gly) c.1820A>G (p.Glu607Gly) c.1814A>G (p.Glu605Gly) c.1805A>G (p.Glu602Gly) c.1802A>G (p.Glu601Gly) c.1688A>G (p.Glu563Gly) c.1595A>G (p.Glu532Gly) n.515+6565T>C n.722+6565T>C c.1883A>G (p.Glu628Gly) c.1580A>G (p.Glu527Gly) c.1808A>G (p.Glu603Gly) n.4296A>G n.4952A>G n.5412A>G | |
| 7 | g.148811650T>G | CA16602850 | EZH2 | n.3822A>C c.*984A>C (n.*984A>C) c.*818A>C (n.*818A>C) n.3641A>C n.2813A>C n.2238A>C n.2300A>C c.1922A>C (p.Glu641Ala) c.1790A>C (p.Glu597Ala) c.1907A>C (p.Glu636Ala) n.174A>C c.1754A>C (p.Glu585Ala) c.1880A>C (p.Glu627Ala) c.*1912A>C (n.*1912A>C) c.1931A>C (p.Glu644Ala) c.1904A>C (p.Glu635Ala) c.1778A>C (p.Glu593Ala) c.1946A>C (p.Glu649Ala) c.1919A>C (p.Glu640Ala) c.1898A>C (p.Glu633Ala) c.1895A>C (p.Glu632Ala) c.1856A>C (p.Glu619Ala) c.1829A>C (p.Glu610Ala) c.1823A>C (p.Glu608Ala) c.1820A>C (p.Glu607Ala) c.1814A>C (p.Glu605Ala) c.1805A>C (p.Glu602Ala) c.1802A>C (p.Glu601Ala) c.1688A>C (p.Glu563Ala) c.1595A>C (p.Glu532Ala) n.515+6565T>G n.722+6565T>G c.1883A>C (p.Glu628Ala) c.1580A>C (p.Glu527Ala) c.1808A>C (p.Glu603Ala) n.4296A>C n.4952A>C n.5412A>C | ClinVar dbSNP |
| 7 | g.148811650T= | CA1751424147 | EZH2 | n.3822A= c.*984A= (n.*984A=) c.*818A= (n.*818A=) n.3641A= n.2813A= n.2238A= n.2300A= c.1922A= (p.Glu641=) c.1790A= (p.Glu597=) c.1907A= (p.Glu636=) n.174A= c.1754A= (p.Glu585=) c.1880A= (p.Glu627=) c.*1912A= (n.*1912A=) c.1931A= (p.Glu644=) c.1904A= (p.Glu635=) c.1778A= (p.Glu593=) c.1946A= (p.Glu649=) c.1919A= (p.Glu640=) c.1898A= (p.Glu633=) c.1895A= (p.Glu632=) c.1856A= (p.Glu619=) c.1829A= (p.Glu610=) c.1823A= (p.Glu608=) c.1820A= (p.Glu607=) c.1814A= (p.Glu605=) c.1805A= (p.Glu602=) c.1802A= (p.Glu601=) c.1688A= (p.Glu563=) c.1595A= (p.Glu532=) n.515+6565T= n.722+6565T= c.1883A= (p.Glu628=) c.1580A= (p.Glu527=) c.1808A= (p.Glu603=) n.4296A= n.4952A= n.5412A= | |
| 7 | g.148811651del | CA2685465191 | EZH2 | n.3821del c.*983del (n.*983del) c.*817del (n.*817del) n.3640del n.2812del n.2237del n.2299del c.1921del (p.Glu641AsnfsTer?) c.1789del (p.Glu597AsnfsTer?) c.1906del (p.Glu636AsnfsTer?) n.173del c.1753del (p.Glu585AsnfsTer?) c.1879del (p.Glu627AsnfsTer?) c.*1911del (n.*1911del) c.1930del (p.Glu644AsnfsTer?) c.1903del (p.Glu635AsnfsTer?) c.1777del (p.Glu593AsnfsTer?) c.1945del (p.Glu649AsnfsTer?) c.1918del (p.Glu640AsnfsTer?) c.1897del (p.Glu633AsnfsTer?) c.1894del (p.Glu632AsnfsTer?) c.1855del (p.Glu619AsnfsTer?) c.1828del (p.Glu610AsnfsTer?) c.1822del (p.Glu608AsnfsTer?) c.1819del (p.Glu607AsnfsTer?) c.1813del (p.Glu605AsnfsTer?) c.1804del (p.Glu602AsnfsTer?) c.1801del (p.Glu601AsnfsTer?) c.1687del (p.Glu563AsnfsTer?) c.1594del (p.Glu532AsnfsTer?) n.515+6566del n.722+6566del c.1882del (p.Glu628AsnfsTer?) c.1579del (p.Glu527AsnfsTer?) c.1807del (p.Glu603AsnfsTer?) n.4295del n.4951del n.5411del | gnomAD v4 |