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 |
7 | g.148811651C>A | CA369713069 | EZH2 | n.3821G>T c.*983G>T (n.*983G>T) c.*817G>T (n.*817G>T) n.3640G>T n.2812G>T n.2237G>T n.2299G>T c.1921G>T (p.Glu641Ter) c.1789G>T (p.Glu597Ter) c.1906G>T (p.Glu636Ter) n.173G>T c.1753G>T (p.Glu585Ter) c.1879G>T (p.Glu627Ter) c.*1911G>T (n.*1911G>T) c.1930G>T (p.Glu644Ter) c.1903G>T (p.Glu635Ter) c.1777G>T (p.Glu593Ter) c.1945G>T (p.Glu649Ter) c.1918G>T (p.Glu640Ter) c.1897G>T (p.Glu633Ter) c.1894G>T (p.Glu632Ter) c.1855G>T (p.Glu619Ter) c.1828G>T (p.Glu610Ter) c.1822G>T (p.Glu608Ter) c.1819G>T (p.Glu607Ter) c.1813G>T (p.Glu605Ter) c.1804G>T (p.Glu602Ter) c.1801G>T (p.Glu601Ter) c.1687G>T (p.Glu563Ter) c.1594G>T (p.Glu532Ter) n.515+6566C>A n.722+6566C>A c.1882G>T (p.Glu628Ter) c.1579G>T (p.Glu527Ter) c.1807G>T (p.Glu603Ter) n.4295G>T n.4951G>T n.5411G>T | |
7 | g.148811651C= | CA1751424148 | EZH2 | n.3821G= c.*983G= (n.*983G=) c.*817G= (n.*817G=) n.3640G= n.2812G= n.2237G= n.2299G= c.1921G= (p.Glu641=) c.1789G= (p.Glu597=) c.1906G= (p.Glu636=) n.173G= c.1753G= (p.Glu585=) c.1879G= (p.Glu627=) c.*1911G= (n.*1911G=) c.1930G= (p.Glu644=) c.1903G= (p.Glu635=) c.1777G= (p.Glu593=) c.1945G= (p.Glu649=) c.1918G= (p.Glu640=) c.1897G= (p.Glu633=) c.1894G= (p.Glu632=) c.1855G= (p.Glu619=) c.1828G= (p.Glu610=) c.1822G= (p.Glu608=) c.1819G= (p.Glu607=) c.1813G= (p.Glu605=) c.1804G= (p.Glu602=) c.1801G= (p.Glu601=) c.1687G= (p.Glu563=) c.1594G= (p.Glu532=) n.515+6566C= n.722+6566C= c.1882G= (p.Glu628=) c.1579G= (p.Glu527=) c.1807G= (p.Glu603=) n.4295G= n.4951G= n.5411G= | |
7 | g.148811651C>G | CA4547762 | EZH2 | n.3821G>C c.*983G>C (n.*983G>C) c.*817G>C (n.*817G>C) n.3640G>C n.2812G>C n.2237G>C n.2299G>C c.1921G>C (p.Glu641Gln) c.1789G>C (p.Glu597Gln) c.1906G>C (p.Glu636Gln) n.173G>C c.1753G>C (p.Glu585Gln) c.1879G>C (p.Glu627Gln) c.*1911G>C (n.*1911G>C) c.1930G>C (p.Glu644Gln) c.1903G>C (p.Glu635Gln) c.1777G>C (p.Glu593Gln) c.1945G>C (p.Glu649Gln) c.1918G>C (p.Glu640Gln) c.1897G>C (p.Glu633Gln) c.1894G>C (p.Glu632Gln) c.1855G>C (p.Glu619Gln) c.1828G>C (p.Glu610Gln) c.1822G>C (p.Glu608Gln) c.1819G>C (p.Glu607Gln) c.1813G>C (p.Glu605Gln) c.1804G>C (p.Glu602Gln) c.1801G>C (p.Glu601Gln) c.1687G>C (p.Glu563Gln) c.1594G>C (p.Glu532Gln) n.515+6566C>G n.722+6566C>G c.1882G>C (p.Glu628Gln) c.1579G>C (p.Glu527Gln) c.1807G>C (p.Glu603Gln) n.4295G>C n.4951G>C n.5411G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.148811651C>T | CA369713070 | EZH2 | n.3821G>A c.*983G>A (n.*983G>A) c.*817G>A (n.*817G>A) n.3640G>A n.2812G>A n.2237G>A n.2299G>A c.1921G>A (p.Glu641Lys) c.1789G>A (p.Glu597Lys) c.1906G>A (p.Glu636Lys) n.173G>A c.1753G>A (p.Glu585Lys) c.1879G>A (p.Glu627Lys) c.*1911G>A (n.*1911G>A) c.1930G>A (p.Glu644Lys) c.1903G>A (p.Glu635Lys) c.1777G>A (p.Glu593Lys) c.1945G>A (p.Glu649Lys) c.1918G>A (p.Glu640Lys) c.1897G>A (p.Glu633Lys) c.1894G>A (p.Glu632Lys) c.1855G>A (p.Glu619Lys) c.1828G>A (p.Glu610Lys) c.1822G>A (p.Glu608Lys) c.1819G>A (p.Glu607Lys) c.1813G>A (p.Glu605Lys) c.1804G>A (p.Glu602Lys) c.1801G>A (p.Glu601Lys) c.1687G>A (p.Glu563Lys) c.1594G>A (p.Glu532Lys) n.515+6566C>T n.722+6566C>T c.1882G>A (p.Glu628Lys) c.1579G>A (p.Glu527Lys) c.1807G>A (p.Glu603Lys) n.4295G>A n.4951G>A n.5411G>A | dbSNP |
7 | g.148811652A>C | CA369713071 | EZH2 | n.3820T>G c.*982T>G (n.*982T>G) c.*816T>G (n.*816T>G) n.3639T>G n.2811T>G n.2236T>G n.2298T>G c.1920T>G (p.Asn640Lys) c.1788T>G (p.Asn596Lys) c.1905T>G (p.Asn635Lys) n.172T>G c.1752T>G (p.Asn584Lys) c.1878T>G (p.Asn626Lys) c.*1910T>G (n.*1910T>G) c.1929T>G (p.Asn643Lys) c.1902T>G (p.Asn634Lys) c.1776T>G (p.Asn592Lys) c.1944T>G (p.Asn648Lys) c.1917T>G (p.Asn639Lys) c.1896T>G (p.Asn632Lys) c.1893T>G (p.Asn631Lys) c.1854T>G (p.Asn618Lys) c.1827T>G (p.Asn609Lys) c.1821T>G (p.Asn607Lys) c.1818T>G (p.Asn606Lys) c.1812T>G (p.Asn604Lys) c.1803T>G (p.Asn601Lys) c.1800T>G (p.Asn600Lys) c.1686T>G (p.Asn562Lys) c.1593T>G (p.Asn531Lys) n.515+6567A>C n.722+6567A>C c.1881T>G (p.Asn627Lys) c.1578T>G (p.Asn526Lys) c.1806T>G (p.Asn602Lys) n.4294T>G n.4950T>G n.5410T>G | gnomAD v4 |
7 | g.148811652A>G | CA458345816 | EZH2 | n.3820T>C c.*982T>C (n.*982T>C) c.*816T>C (n.*816T>C) n.3639T>C n.2811T>C n.2236T>C n.2298T>C c.1920T>C (p.Asn640=) c.1788T>C (p.Asn596=) c.1905T>C (p.Asn635=) n.172T>C c.1752T>C (p.Asn584=) c.1878T>C (p.Asn626=) c.*1910T>C (n.*1910T>C) c.1929T>C (p.Asn643=) c.1902T>C (p.Asn634=) c.1776T>C (p.Asn592=) c.1944T>C (p.Asn648=) c.1917T>C (p.Asn639=) c.1896T>C (p.Asn632=) c.1893T>C (p.Asn631=) c.1854T>C (p.Asn618=) c.1827T>C (p.Asn609=) c.1821T>C (p.Asn607=) c.1818T>C (p.Asn606=) c.1812T>C (p.Asn604=) c.1803T>C (p.Asn601=) c.1800T>C (p.Asn600=) c.1686T>C (p.Asn562=) c.1593T>C (p.Asn531=) n.515+6567A>G n.722+6567A>G c.1881T>C (p.Asn627=) c.1578T>C (p.Asn526=) c.1806T>C (p.Asn602=) n.4294T>C n.4950T>C n.5410T>C | |
7 | g.148811652A>T | CA369713072 | EZH2 | n.3820T>A c.*982T>A (n.*982T>A) c.*816T>A (n.*816T>A) n.3639T>A n.2811T>A n.2236T>A n.2298T>A c.1920T>A (p.Asn640Lys) c.1788T>A (p.Asn596Lys) c.1905T>A (p.Asn635Lys) n.172T>A c.1752T>A (p.Asn584Lys) c.1878T>A (p.Asn626Lys) c.*1910T>A (n.*1910T>A) c.1929T>A (p.Asn643Lys) c.1902T>A (p.Asn634Lys) c.1776T>A (p.Asn592Lys) c.1944T>A (p.Asn648Lys) c.1917T>A (p.Asn639Lys) c.1896T>A (p.Asn632Lys) c.1893T>A (p.Asn631Lys) c.1854T>A (p.Asn618Lys) c.1827T>A (p.Asn609Lys) c.1821T>A (p.Asn607Lys) c.1818T>A (p.Asn606Lys) c.1812T>A (p.Asn604Lys) c.1803T>A (p.Asn601Lys) c.1800T>A (p.Asn600Lys) c.1686T>A (p.Asn562Lys) c.1593T>A (p.Asn531Lys) n.515+6567A>T n.722+6567A>T c.1881T>A (p.Asn627Lys) c.1578T>A (p.Asn526Lys) c.1806T>A (p.Asn602Lys) n.4294T>A n.4950T>A n.5410T>A | COSMIC |
7 | g.148811653T>A | CA369713073 | EZH2 | n.3819A>T c.*981A>T (n.*981A>T) c.*815A>T (n.*815A>T) n.3638A>T n.2810A>T n.2235A>T n.2297A>T c.1919A>T (p.Asn640Ile) c.1787A>T (p.Asn596Ile) c.1904A>T (p.Asn635Ile) n.171A>T c.1751A>T (p.Asn584Ile) c.1877A>T (p.Asn626Ile) c.*1909A>T (n.*1909A>T) c.1928A>T (p.Asn643Ile) c.1901A>T (p.Asn634Ile) c.1775A>T (p.Asn592Ile) c.1943A>T (p.Asn648Ile) c.1916A>T (p.Asn639Ile) c.1895A>T (p.Asn632Ile) c.1892A>T (p.Asn631Ile) c.1853A>T (p.Asn618Ile) c.1826A>T (p.Asn609Ile) c.1820A>T (p.Asn607Ile) c.1817A>T (p.Asn606Ile) c.1811A>T (p.Asn604Ile) c.1802A>T (p.Asn601Ile) c.1799A>T (p.Asn600Ile) c.1685A>T (p.Asn562Ile) c.1592A>T (p.Asn531Ile) n.515+6568T>A n.722+6568T>A c.1880A>T (p.Asn627Ile) c.1577A>T (p.Asn526Ile) c.1805A>T (p.Asn602Ile) n.4293A>T n.4949A>T n.5409A>T | |
7 | g.148811653T>C | CA369713074 | EZH2 | n.3819A>G c.*981A>G (n.*981A>G) c.*815A>G (n.*815A>G) n.3638A>G n.2810A>G n.2235A>G n.2297A>G c.1919A>G (p.Asn640Ser) c.1787A>G (p.Asn596Ser) c.1904A>G (p.Asn635Ser) n.171A>G c.1751A>G (p.Asn584Ser) c.1877A>G (p.Asn626Ser) c.*1909A>G (n.*1909A>G) c.1928A>G (p.Asn643Ser) c.1901A>G (p.Asn634Ser) c.1775A>G (p.Asn592Ser) c.1943A>G (p.Asn648Ser) c.1916A>G (p.Asn639Ser) c.1895A>G (p.Asn632Ser) c.1892A>G (p.Asn631Ser) c.1853A>G (p.Asn618Ser) c.1826A>G (p.Asn609Ser) c.1820A>G (p.Asn607Ser) c.1817A>G (p.Asn606Ser) c.1811A>G (p.Asn604Ser) c.1802A>G (p.Asn601Ser) c.1799A>G (p.Asn600Ser) c.1685A>G (p.Asn562Ser) c.1592A>G (p.Asn531Ser) n.515+6568T>C n.722+6568T>C c.1880A>G (p.Asn627Ser) c.1577A>G (p.Asn526Ser) c.1805A>G (p.Asn602Ser) n.4293A>G n.4949A>G n.5409A>G | |
7 | g.148811653T>G | CA369713075 | EZH2 | n.3819A>C c.*981A>C (n.*981A>C) c.*815A>C (n.*815A>C) n.3638A>C n.2810A>C n.2235A>C n.2297A>C c.1919A>C (p.Asn640Thr) c.1787A>C (p.Asn596Thr) c.1904A>C (p.Asn635Thr) n.171A>C c.1751A>C (p.Asn584Thr) c.1877A>C (p.Asn626Thr) c.*1909A>C (n.*1909A>C) c.1928A>C (p.Asn643Thr) c.1901A>C (p.Asn634Thr) c.1775A>C (p.Asn592Thr) c.1943A>C (p.Asn648Thr) c.1916A>C (p.Asn639Thr) c.1895A>C (p.Asn632Thr) c.1892A>C (p.Asn631Thr) c.1853A>C (p.Asn618Thr) c.1826A>C (p.Asn609Thr) c.1820A>C (p.Asn607Thr) c.1817A>C (p.Asn606Thr) c.1811A>C (p.Asn604Thr) c.1802A>C (p.Asn601Thr) c.1799A>C (p.Asn600Thr) c.1685A>C (p.Asn562Thr) c.1592A>C (p.Asn531Thr) n.515+6568T>G n.722+6568T>G c.1880A>C (p.Asn627Thr) c.1577A>C (p.Asn526Thr) c.1805A>C (p.Asn602Thr) n.4293A>C n.4949A>C n.5409A>C | dbSNP |
7 | g.148811657dup | CA2716261356 | EZH2 | n.3819dup c.*981dup (n.*981dup) c.*815dup (n.*815dup) n.3638dup n.2810dup n.2235dup n.2297dup c.1919dup (p.Asn640LysfsTer2) c.1787dup (p.Asn596LysfsTer2) c.1904dup (p.Asn635LysfsTer2) n.171dup c.1751dup (p.Asn584LysfsTer2) c.1877dup (p.Asn626LysfsTer2) c.*1909dup (n.*1909dup) c.1928dup (p.Asn643LysfsTer2) c.1901dup (p.Asn634LysfsTer2) c.1775dup (p.Asn592LysfsTer2) c.1943dup (p.Asn648LysfsTer2) c.1916dup (p.Asn639LysfsTer2) c.1895dup (p.Asn632LysfsTer2) c.1892dup (p.Asn631LysfsTer2) c.1853dup (p.Asn618LysfsTer2) c.1826dup (p.Asn609LysfsTer2) c.1820dup (p.Asn607LysfsTer2) c.1817dup (p.Asn606LysfsTer2) c.1811dup (p.Asn604LysfsTer2) c.1802dup (p.Asn601LysfsTer2) c.1799dup (p.Asn600LysfsTer2) c.1685dup (p.Asn562LysfsTer2) c.1592dup (p.Asn531LysfsTer2) n.515+6572dup n.722+6572dup c.1880dup (p.Asn627LysfsTer2) c.1577dup (p.Asn526LysfsTer2) c.1805dup (p.Asn602LysfsTer2) n.4293dup n.4949dup n.5409dup | dbSNP |
7 | g.148811657del | CA645563947 | EZH2 | n.3819del c.*981del (n.*981del) c.*815del (n.*815del) n.3638del n.2810del n.2235del n.2297del c.1919del (p.Asn640MetfsTer?) c.1787del (p.Asn596MetfsTer?) c.1904del (p.Asn635MetfsTer?) n.171del c.1751del (p.Asn584MetfsTer?) c.1877del (p.Asn626MetfsTer?) c.*1909del (n.*1909del) c.1928del (p.Asn643MetfsTer?) c.1901del (p.Asn634MetfsTer?) c.1775del (p.Asn592MetfsTer?) c.1943del (p.Asn648MetfsTer?) c.1916del (p.Asn639MetfsTer?) c.1895del (p.Asn632MetfsTer?) c.1892del (p.Asn631MetfsTer?) c.1853del (p.Asn618MetfsTer?) c.1826del (p.Asn609MetfsTer?) c.1820del (p.Asn607MetfsTer?) c.1817del (p.Asn606MetfsTer?) c.1811del (p.Asn604MetfsTer?) c.1802del (p.Asn601MetfsTer?) c.1799del (p.Asn600MetfsTer?) c.1685del (p.Asn562MetfsTer?) c.1592del (p.Asn531MetfsTer?) n.515+6572del n.722+6572del c.1880del (p.Asn627MetfsTer?) c.1577del (p.Asn526MetfsTer?) c.1805del (p.Asn602MetfsTer?) n.4293del n.4949del n.5409del | COSMIC COSMIC |
7 | g.148811654T>A | CA369713077 | EZH2 | n.3818A>T c.*980A>T (n.*980A>T) c.*814A>T (n.*814A>T) n.3637A>T n.2809A>T n.2234A>T n.2296A>T c.1918A>T (p.Asn640Tyr) c.1786A>T (p.Asn596Tyr) c.1903A>T (p.Asn635Tyr) n.170A>T c.1750A>T (p.Asn584Tyr) c.1876A>T (p.Asn626Tyr) c.*1908A>T (n.*1908A>T) c.1927A>T (p.Asn643Tyr) c.1900A>T (p.Asn634Tyr) c.1774A>T (p.Asn592Tyr) c.1942A>T (p.Asn648Tyr) c.1915A>T (p.Asn639Tyr) c.1894A>T (p.Asn632Tyr) c.1891A>T (p.Asn631Tyr) c.1852A>T (p.Asn618Tyr) c.1825A>T (p.Asn609Tyr) c.1819A>T (p.Asn607Tyr) c.1816A>T (p.Asn606Tyr) c.1810A>T (p.Asn604Tyr) c.1801A>T (p.Asn601Tyr) c.1798A>T (p.Asn600Tyr) c.1684A>T (p.Asn562Tyr) c.1591A>T (p.Asn531Tyr) n.515+6569T>A n.722+6569T>A c.1879A>T (p.Asn627Tyr) c.1576A>T (p.Asn526Tyr) c.1804A>T (p.Asn602Tyr) n.4292A>T n.4948A>T n.5408A>T | |
7 | g.148811654T>C | CA369713078 | EZH2 | n.3818A>G c.*980A>G (n.*980A>G) c.*814A>G (n.*814A>G) n.3637A>G n.2809A>G n.2234A>G n.2296A>G c.1918A>G (p.Asn640Asp) c.1786A>G (p.Asn596Asp) c.1903A>G (p.Asn635Asp) n.170A>G c.1750A>G (p.Asn584Asp) c.1876A>G (p.Asn626Asp) c.*1908A>G (n.*1908A>G) c.1927A>G (p.Asn643Asp) c.1900A>G (p.Asn634Asp) c.1774A>G (p.Asn592Asp) c.1942A>G (p.Asn648Asp) c.1915A>G (p.Asn639Asp) c.1894A>G (p.Asn632Asp) c.1891A>G (p.Asn631Asp) c.1852A>G (p.Asn618Asp) c.1825A>G (p.Asn609Asp) c.1819A>G (p.Asn607Asp) c.1816A>G (p.Asn606Asp) c.1810A>G (p.Asn604Asp) c.1801A>G (p.Asn601Asp) c.1798A>G (p.Asn600Asp) c.1684A>G (p.Asn562Asp) c.1591A>G (p.Asn531Asp) n.515+6569T>C n.722+6569T>C c.1879A>G (p.Asn627Asp) c.1576A>G (p.Asn526Asp) c.1804A>G (p.Asn602Asp) n.4292A>G n.4948A>G n.5408A>G | ClinVar |
7 | g.148811654T>G | CA369713076 | EZH2 | n.3818A>C c.*980A>C (n.*980A>C) c.*814A>C (n.*814A>C) n.3637A>C n.2809A>C n.2234A>C n.2296A>C c.1918A>C (p.Asn640His) c.1786A>C (p.Asn596His) c.1903A>C (p.Asn635His) n.170A>C c.1750A>C (p.Asn584His) c.1876A>C (p.Asn626His) c.*1908A>C (n.*1908A>C) c.1927A>C (p.Asn643His) c.1900A>C (p.Asn634His) c.1774A>C (p.Asn592His) c.1942A>C (p.Asn648His) c.1915A>C (p.Asn639His) c.1894A>C (p.Asn632His) c.1891A>C (p.Asn631His) c.1852A>C (p.Asn618His) c.1825A>C (p.Asn609His) c.1819A>C (p.Asn607His) c.1816A>C (p.Asn606His) c.1810A>C (p.Asn604His) c.1801A>C (p.Asn601His) c.1798A>C (p.Asn600His) c.1684A>C (p.Asn562His) c.1591A>C (p.Asn531His) n.515+6569T>G n.722+6569T>G c.1879A>C (p.Asn627His) c.1576A>C (p.Asn526His) c.1804A>C (p.Asn602His) n.4292A>C n.4948A>C n.5408A>C | |
7 | g.148811655T>A | CA369713080 | EZH2 | n.3817A>T c.*979A>T (n.*979A>T) c.*813A>T (n.*813A>T) n.3636A>T n.2808A>T n.2233A>T n.2295A>T c.1917A>T (p.Lys639Asn) c.1785A>T (p.Lys595Asn) c.1902A>T (p.Lys634Asn) n.169A>T c.1749A>T (p.Lys583Asn) c.1875A>T (p.Lys625Asn) c.*1907A>T (n.*1907A>T) c.1926A>T (p.Lys642Asn) c.1899A>T (p.Lys633Asn) c.1773A>T (p.Lys591Asn) c.1941A>T (p.Lys647Asn) c.1914A>T (p.Lys638Asn) c.1893A>T (p.Lys631Asn) c.1890A>T (p.Lys630Asn) c.1851A>T (p.Lys617Asn) c.1824A>T (p.Lys608Asn) c.1818A>T (p.Lys606Asn) c.1815A>T (p.Lys605Asn) c.1809A>T (p.Lys603Asn) c.1800A>T (p.Lys600Asn) c.1797A>T (p.Lys599Asn) c.1683A>T (p.Lys561Asn) c.1590A>T (p.Lys530Asn) n.515+6570T>A n.722+6570T>A c.1878A>T (p.Lys626Asn) c.1575A>T (p.Lys525Asn) c.1803A>T (p.Lys601Asn) n.4291A>T n.4947A>T n.5407A>T | dbSNP |
7 | g.148811655T>C | CA458345817 | EZH2 | n.3817A>G c.*979A>G (n.*979A>G) c.*813A>G (n.*813A>G) n.3636A>G n.2808A>G n.2233A>G n.2295A>G c.1917A>G (p.Lys639=) c.1785A>G (p.Lys595=) c.1902A>G (p.Lys634=) n.169A>G c.1749A>G (p.Lys583=) c.1875A>G (p.Lys625=) c.*1907A>G (n.*1907A>G) c.1926A>G (p.Lys642=) c.1899A>G (p.Lys633=) c.1773A>G (p.Lys591=) c.1941A>G (p.Lys647=) c.1914A>G (p.Lys638=) c.1893A>G (p.Lys631=) c.1890A>G (p.Lys630=) c.1851A>G (p.Lys617=) c.1824A>G (p.Lys608=) c.1818A>G (p.Lys606=) c.1815A>G (p.Lys605=) c.1809A>G (p.Lys603=) c.1800A>G (p.Lys600=) c.1797A>G (p.Lys599=) c.1683A>G (p.Lys561=) c.1590A>G (p.Lys530=) n.515+6570T>C n.722+6570T>C c.1878A>G (p.Lys626=) c.1575A>G (p.Lys525=) c.1803A>G (p.Lys601=) n.4291A>G n.4947A>G n.5407A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.148811655T>G | CA369713079 | EZH2 | n.3817A>C c.*979A>C (n.*979A>C) c.*813A>C (n.*813A>C) n.3636A>C n.2808A>C n.2233A>C n.2295A>C c.1917A>C (p.Lys639Asn) c.1785A>C (p.Lys595Asn) c.1902A>C (p.Lys634Asn) n.169A>C c.1749A>C (p.Lys583Asn) c.1875A>C (p.Lys625Asn) c.*1907A>C (n.*1907A>C) c.1926A>C (p.Lys642Asn) c.1899A>C (p.Lys633Asn) c.1773A>C (p.Lys591Asn) c.1941A>C (p.Lys647Asn) c.1914A>C (p.Lys638Asn) c.1893A>C (p.Lys631Asn) c.1890A>C (p.Lys630Asn) c.1851A>C (p.Lys617Asn) c.1824A>C (p.Lys608Asn) c.1818A>C (p.Lys606Asn) c.1815A>C (p.Lys605Asn) c.1809A>C (p.Lys603Asn) c.1800A>C (p.Lys600Asn) c.1797A>C (p.Lys599Asn) c.1683A>C (p.Lys561Asn) c.1590A>C (p.Lys530Asn) n.515+6570T>G n.722+6570T>G c.1878A>C (p.Lys626Asn) c.1575A>C (p.Lys525Asn) c.1803A>C (p.Lys601Asn) n.4291A>C n.4947A>C n.5407A>C | |
7 | g.148811655T= | CA1751424149 | EZH2 | n.3817A= c.*979A= (n.*979A=) c.*813A= (n.*813A=) n.3636A= n.2808A= n.2233A= n.2295A= c.1917A= (p.Lys639=) c.1785A= (p.Lys595=) c.1902A= (p.Lys634=) n.169A= c.1749A= (p.Lys583=) c.1875A= (p.Lys625=) c.*1907A= (n.*1907A=) c.1926A= (p.Lys642=) c.1899A= (p.Lys633=) c.1773A= (p.Lys591=) c.1941A= (p.Lys647=) c.1914A= (p.Lys638=) c.1893A= (p.Lys631=) c.1890A= (p.Lys630=) c.1851A= (p.Lys617=) c.1824A= (p.Lys608=) c.1818A= (p.Lys606=) c.1815A= (p.Lys605=) c.1809A= (p.Lys603=) c.1800A= (p.Lys600=) c.1797A= (p.Lys599=) c.1683A= (p.Lys561=) c.1590A= (p.Lys530=) n.515+6570T= n.722+6570T= c.1878A= (p.Lys626=) c.1575A= (p.Lys525=) c.1803A= (p.Lys601=) n.4291A= n.4947A= n.5407A= | |
7 | g.148811656T>A | CA369713082 | EZH2 | n.3816A>T c.*978A>T (n.*978A>T) c.*812A>T (n.*812A>T) n.3635A>T n.2807A>T n.2232A>T n.2294A>T c.1916A>T (p.Lys639Ile) c.1784A>T (p.Lys595Ile) c.1901A>T (p.Lys634Ile) n.168A>T c.1748A>T (p.Lys583Ile) c.1874A>T (p.Lys625Ile) c.*1906A>T (n.*1906A>T) c.1925A>T (p.Lys642Ile) c.1898A>T (p.Lys633Ile) c.1772A>T (p.Lys591Ile) c.1940A>T (p.Lys647Ile) c.1913A>T (p.Lys638Ile) c.1892A>T (p.Lys631Ile) c.1889A>T (p.Lys630Ile) c.1850A>T (p.Lys617Ile) c.1823A>T (p.Lys608Ile) c.1817A>T (p.Lys606Ile) c.1814A>T (p.Lys605Ile) c.1808A>T (p.Lys603Ile) c.1799A>T (p.Lys600Ile) c.1796A>T (p.Lys599Ile) c.1682A>T (p.Lys561Ile) c.1589A>T (p.Lys530Ile) n.515+6571T>A n.722+6571T>A c.1877A>T (p.Lys626Ile) c.1574A>T (p.Lys525Ile) c.1802A>T (p.Lys601Ile) n.4290A>T n.4946A>T n.5406A>T | |
7 | g.148811656T>C | CA369713081 | EZH2 | n.3816A>G c.*978A>G (n.*978A>G) c.*812A>G (n.*812A>G) n.3635A>G n.2807A>G n.2232A>G n.2294A>G c.1916A>G (p.Lys639Arg) c.1784A>G (p.Lys595Arg) c.1901A>G (p.Lys634Arg) n.168A>G c.1748A>G (p.Lys583Arg) c.1874A>G (p.Lys625Arg) c.*1906A>G (n.*1906A>G) c.1925A>G (p.Lys642Arg) c.1898A>G (p.Lys633Arg) c.1772A>G (p.Lys591Arg) c.1940A>G (p.Lys647Arg) c.1913A>G (p.Lys638Arg) c.1892A>G (p.Lys631Arg) c.1889A>G (p.Lys630Arg) c.1850A>G (p.Lys617Arg) c.1823A>G (p.Lys608Arg) c.1817A>G (p.Lys606Arg) c.1814A>G (p.Lys605Arg) c.1808A>G (p.Lys603Arg) c.1799A>G (p.Lys600Arg) c.1796A>G (p.Lys599Arg) c.1682A>G (p.Lys561Arg) c.1589A>G (p.Lys530Arg) n.515+6571T>C n.722+6571T>C c.1877A>G (p.Lys626Arg) c.1574A>G (p.Lys525Arg) c.1802A>G (p.Lys601Arg) n.4290A>G n.4946A>G n.5406A>G | dbSNP |
7 | g.148811656T>G | CA369713083 | EZH2 | n.3816A>C c.*978A>C (n.*978A>C) c.*812A>C (n.*812A>C) n.3635A>C n.2807A>C n.2232A>C n.2294A>C c.1916A>C (p.Lys639Thr) c.1784A>C (p.Lys595Thr) c.1901A>C (p.Lys634Thr) n.168A>C c.1748A>C (p.Lys583Thr) c.1874A>C (p.Lys625Thr) c.*1906A>C (n.*1906A>C) c.1925A>C (p.Lys642Thr) c.1898A>C (p.Lys633Thr) c.1772A>C (p.Lys591Thr) c.1940A>C (p.Lys647Thr) c.1913A>C (p.Lys638Thr) c.1892A>C (p.Lys631Thr) c.1889A>C (p.Lys630Thr) c.1850A>C (p.Lys617Thr) c.1823A>C (p.Lys608Thr) c.1817A>C (p.Lys606Thr) c.1814A>C (p.Lys605Thr) c.1808A>C (p.Lys603Thr) c.1799A>C (p.Lys600Thr) c.1796A>C (p.Lys599Thr) c.1682A>C (p.Lys561Thr) c.1589A>C (p.Lys530Thr) n.515+6571T>G n.722+6571T>G c.1877A>C (p.Lys626Thr) c.1574A>C (p.Lys525Thr) c.1802A>C (p.Lys601Thr) n.4290A>C n.4946A>C n.5406A>C | |
7 | g.148811657T>A | CA369713084 | EZH2 | n.3815A>T c.*977A>T (n.*977A>T) c.*811A>T (n.*811A>T) n.3634A>T n.2806A>T n.2231A>T n.2293A>T c.1915A>T (p.Lys639Ter) c.1783A>T (p.Lys595Ter) c.1900A>T (p.Lys634Ter) n.167A>T c.1747A>T (p.Lys583Ter) c.1873A>T (p.Lys625Ter) c.*1905A>T (n.*1905A>T) c.1924A>T (p.Lys642Ter) c.1897A>T (p.Lys633Ter) c.1771A>T (p.Lys591Ter) c.1939A>T (p.Lys647Ter) c.1912A>T (p.Lys638Ter) c.1891A>T (p.Lys631Ter) c.1888A>T (p.Lys630Ter) c.1849A>T (p.Lys617Ter) c.1822A>T (p.Lys608Ter) c.1816A>T (p.Lys606Ter) c.1813A>T (p.Lys605Ter) c.1807A>T (p.Lys603Ter) c.1798A>T (p.Lys600Ter) c.1795A>T (p.Lys599Ter) c.1681A>T (p.Lys561Ter) c.1588A>T (p.Lys530Ter) n.515+6572T>A n.722+6572T>A c.1876A>T (p.Lys626Ter) c.1573A>T (p.Lys525Ter) c.1801A>T (p.Lys601Ter) n.4289A>T n.4945A>T n.5405A>T | |
7 | g.148811657T>C | CA369713086 | EZH2 | n.3815A>G c.*977A>G (n.*977A>G) c.*811A>G (n.*811A>G) n.3634A>G n.2806A>G n.2231A>G n.2293A>G c.1915A>G (p.Lys639Glu) c.1783A>G (p.Lys595Glu) c.1900A>G (p.Lys634Glu) n.167A>G c.1747A>G (p.Lys583Glu) c.1873A>G (p.Lys625Glu) c.*1905A>G (n.*1905A>G) c.1924A>G (p.Lys642Glu) c.1897A>G (p.Lys633Glu) c.1771A>G (p.Lys591Glu) c.1939A>G (p.Lys647Glu) c.1912A>G (p.Lys638Glu) c.1891A>G (p.Lys631Glu) c.1888A>G (p.Lys630Glu) c.1849A>G (p.Lys617Glu) c.1822A>G (p.Lys608Glu) c.1816A>G (p.Lys606Glu) c.1813A>G (p.Lys605Glu) c.1807A>G (p.Lys603Glu) c.1798A>G (p.Lys600Glu) c.1795A>G (p.Lys599Glu) c.1681A>G (p.Lys561Glu) c.1588A>G (p.Lys530Glu) n.515+6572T>C n.722+6572T>C c.1876A>G (p.Lys626Glu) c.1573A>G (p.Lys525Glu) c.1801A>G (p.Lys601Glu) n.4289A>G n.4945A>G n.5405A>G | |
7 | g.148811657T>G | CA369713085 | EZH2 | n.3815A>C c.*977A>C (n.*977A>C) c.*811A>C (n.*811A>C) n.3634A>C n.2806A>C n.2231A>C n.2293A>C c.1915A>C (p.Lys639Gln) c.1783A>C (p.Lys595Gln) c.1900A>C (p.Lys634Gln) n.167A>C c.1747A>C (p.Lys583Gln) c.1873A>C (p.Lys625Gln) c.*1905A>C (n.*1905A>C) c.1924A>C (p.Lys642Gln) c.1897A>C (p.Lys633Gln) c.1771A>C (p.Lys591Gln) c.1939A>C (p.Lys647Gln) c.1912A>C (p.Lys638Gln) c.1891A>C (p.Lys631Gln) c.1888A>C (p.Lys630Gln) c.1849A>C (p.Lys617Gln) c.1822A>C (p.Lys608Gln) c.1816A>C (p.Lys606Gln) c.1813A>C (p.Lys605Gln) c.1807A>C (p.Lys603Gln) c.1798A>C (p.Lys600Gln) c.1795A>C (p.Lys599Gln) c.1681A>C (p.Lys561Gln) c.1588A>C (p.Lys530Gln) n.515+6572T>G n.722+6572T>G c.1876A>C (p.Lys626Gln) c.1573A>C (p.Lys525Gln) c.1801A>C (p.Lys601Gln) n.4289A>C n.4945A>C n.5405A>C | |
7 | g.148811658C>A | CA369713087 | EZH2 | n.3814G>T c.*976G>T (n.*976G>T) c.*810G>T (n.*810G>T) n.3633G>T n.2805G>T n.2230G>T n.2292G>T c.1914G>T (p.Gln638His) c.1782G>T (p.Gln594His) c.1899G>T (p.Gln633His) n.166G>T c.1746G>T (p.Gln582His) c.1872G>T (p.Gln624His) c.*1904G>T (n.*1904G>T) c.1923G>T (p.Gln641His) c.1896G>T (p.Gln632His) c.1770G>T (p.Gln590His) c.1938G>T (p.Gln646His) c.1911G>T (p.Gln637His) c.1890G>T (p.Gln630His) c.1887G>T (p.Gln629His) c.1848G>T (p.Gln616His) c.1821G>T (p.Gln607His) c.1815G>T (p.Gln605His) c.1812G>T (p.Gln604His) c.1806G>T (p.Gln602His) c.1797G>T (p.Gln599His) c.1794G>T (p.Gln598His) c.1680G>T (p.Gln560His) c.1587G>T (p.Gln529His) n.515+6573C>A n.722+6573C>A c.1875G>T (p.Gln625His) c.1572G>T (p.Gln524His) c.1800G>T (p.Gln600His) n.4288G>T n.4944G>T n.5404G>T | dbSNP |
7 | g.148811658C>G | CA369713088 | EZH2 | n.3814G>C c.*976G>C (n.*976G>C) c.*810G>C (n.*810G>C) n.3633G>C n.2805G>C n.2230G>C n.2292G>C c.1914G>C (p.Gln638His) c.1782G>C (p.Gln594His) c.1899G>C (p.Gln633His) n.166G>C c.1746G>C (p.Gln582His) c.1872G>C (p.Gln624His) c.*1904G>C (n.*1904G>C) c.1923G>C (p.Gln641His) c.1896G>C (p.Gln632His) c.1770G>C (p.Gln590His) c.1938G>C (p.Gln646His) c.1911G>C (p.Gln637His) c.1890G>C (p.Gln630His) c.1887G>C (p.Gln629His) c.1848G>C (p.Gln616His) c.1821G>C (p.Gln607His) c.1815G>C (p.Gln605His) c.1812G>C (p.Gln604His) c.1806G>C (p.Gln602His) c.1797G>C (p.Gln599His) c.1794G>C (p.Gln598His) c.1680G>C (p.Gln560His) c.1587G>C (p.Gln529His) n.515+6573C>G n.722+6573C>G c.1875G>C (p.Gln625His) c.1572G>C (p.Gln524His) c.1800G>C (p.Gln600His) n.4288G>C n.4944G>C n.5404G>C | dbSNP |
7 | g.148811658C>T | CA458345818 | EZH2 | n.3814G>A c.*976G>A (n.*976G>A) c.*810G>A (n.*810G>A) n.3633G>A n.2805G>A n.2230G>A n.2292G>A c.1914G>A (p.Gln638=) c.1782G>A (p.Gln594=) c.1899G>A (p.Gln633=) n.166G>A c.1746G>A (p.Gln582=) c.1872G>A (p.Gln624=) c.*1904G>A (n.*1904G>A) c.1923G>A (p.Gln641=) c.1896G>A (p.Gln632=) c.1770G>A (p.Gln590=) c.1938G>A (p.Gln646=) c.1911G>A (p.Gln637=) c.1890G>A (p.Gln630=) c.1887G>A (p.Gln629=) c.1848G>A (p.Gln616=) c.1821G>A (p.Gln607=) c.1815G>A (p.Gln605=) c.1812G>A (p.Gln604=) c.1806G>A (p.Gln602=) c.1797G>A (p.Gln599=) c.1794G>A (p.Gln598=) c.1680G>A (p.Gln560=) c.1587G>A (p.Gln529=) n.515+6573C>T n.722+6573C>T c.1875G>A (p.Gln625=) c.1572G>A (p.Gln524=) c.1800G>A (p.Gln600=) n.4288G>A n.4944G>A n.5404G>A | dbSNP |
7 | g.148811659T>A | CA369713089 | EZH2 | n.3813A>T c.*975A>T (n.*975A>T) c.*809A>T (n.*809A>T) n.3632A>T n.2804A>T n.2229A>T n.2291A>T c.1913A>T (p.Gln638Leu) c.1781A>T (p.Gln594Leu) c.1898A>T (p.Gln633Leu) n.165A>T c.1745A>T (p.Gln582Leu) c.1871A>T (p.Gln624Leu) c.*1903A>T (n.*1903A>T) c.1922A>T (p.Gln641Leu) c.1895A>T (p.Gln632Leu) c.1769A>T (p.Gln590Leu) c.1937A>T (p.Gln646Leu) c.1910A>T (p.Gln637Leu) c.1889A>T (p.Gln630Leu) c.1886A>T (p.Gln629Leu) c.1847A>T (p.Gln616Leu) c.1820A>T (p.Gln607Leu) c.1814A>T (p.Gln605Leu) c.1811A>T (p.Gln604Leu) c.1805A>T (p.Gln602Leu) c.1796A>T (p.Gln599Leu) c.1793A>T (p.Gln598Leu) c.1679A>T (p.Gln560Leu) c.1586A>T (p.Gln529Leu) n.515+6574T>A n.722+6574T>A c.1874A>T (p.Gln625Leu) c.1571A>T (p.Gln524Leu) c.1799A>T (p.Gln600Leu) n.4287A>T n.4943A>T n.5403A>T | |
7 | g.148811659T>C | CA369713090 | EZH2 | n.3813A>G c.*975A>G (n.*975A>G) c.*809A>G (n.*809A>G) n.3632A>G n.2804A>G n.2229A>G n.2291A>G c.1913A>G (p.Gln638Arg) c.1781A>G (p.Gln594Arg) c.1898A>G (p.Gln633Arg) n.165A>G c.1745A>G (p.Gln582Arg) c.1871A>G (p.Gln624Arg) c.*1903A>G (n.*1903A>G) c.1922A>G (p.Gln641Arg) c.1895A>G (p.Gln632Arg) c.1769A>G (p.Gln590Arg) c.1937A>G (p.Gln646Arg) c.1910A>G (p.Gln637Arg) c.1889A>G (p.Gln630Arg) c.1886A>G (p.Gln629Arg) c.1847A>G (p.Gln616Arg) c.1820A>G (p.Gln607Arg) c.1814A>G (p.Gln605Arg) c.1811A>G (p.Gln604Arg) c.1805A>G (p.Gln602Arg) c.1796A>G (p.Gln599Arg) c.1793A>G (p.Gln598Arg) c.1679A>G (p.Gln560Arg) c.1586A>G (p.Gln529Arg) n.515+6574T>C n.722+6574T>C c.1874A>G (p.Gln625Arg) c.1571A>G (p.Gln524Arg) c.1799A>G (p.Gln600Arg) n.4287A>G n.4943A>G n.5403A>G | dbSNP gnomAD v4 |
7 | g.148811659T>G | CA369713091 | EZH2 | n.3813A>C c.*975A>C (n.*975A>C) c.*809A>C (n.*809A>C) n.3632A>C n.2804A>C n.2229A>C n.2291A>C c.1913A>C (p.Gln638Pro) c.1781A>C (p.Gln594Pro) c.1898A>C (p.Gln633Pro) n.165A>C c.1745A>C (p.Gln582Pro) c.1871A>C (p.Gln624Pro) c.*1903A>C (n.*1903A>C) c.1922A>C (p.Gln641Pro) c.1895A>C (p.Gln632Pro) c.1769A>C (p.Gln590Pro) c.1937A>C (p.Gln646Pro) c.1910A>C (p.Gln637Pro) c.1889A>C (p.Gln630Pro) c.1886A>C (p.Gln629Pro) c.1847A>C (p.Gln616Pro) c.1820A>C (p.Gln607Pro) c.1814A>C (p.Gln605Pro) c.1811A>C (p.Gln604Pro) c.1805A>C (p.Gln602Pro) c.1796A>C (p.Gln599Pro) c.1793A>C (p.Gln598Pro) c.1679A>C (p.Gln560Pro) c.1586A>C (p.Gln529Pro) n.515+6574T>G n.722+6574T>G c.1874A>C (p.Gln625Pro) c.1571A>C (p.Gln524Pro) c.1799A>C (p.Gln600Pro) n.4287A>C n.4943A>C n.5403A>C | dbSNP |
7 | g.148811660G>A | CA369713092 | EZH2 | n.3812C>T c.*974C>T (n.*974C>T) c.*808C>T (n.*808C>T) n.3631C>T n.2803C>T n.2228C>T n.2290C>T c.1912C>T (p.Gln638Ter) c.1780C>T (p.Gln594Ter) c.1897C>T (p.Gln633Ter) n.164C>T c.1744C>T (p.Gln582Ter) c.1870C>T (p.Gln624Ter) c.*1902C>T (n.*1902C>T) c.1921C>T (p.Gln641Ter) c.1894C>T (p.Gln632Ter) c.1768C>T (p.Gln590Ter) c.1936C>T (p.Gln646Ter) c.1909C>T (p.Gln637Ter) c.1888C>T (p.Gln630Ter) c.1885C>T (p.Gln629Ter) c.1846C>T (p.Gln616Ter) c.1819C>T (p.Gln607Ter) c.1813C>T (p.Gln605Ter) c.1810C>T (p.Gln604Ter) c.1804C>T (p.Gln602Ter) c.1795C>T (p.Gln599Ter) c.1792C>T (p.Gln598Ter) c.1678C>T (p.Gln560Ter) c.1585C>T (p.Gln529Ter) n.515+6575G>A n.722+6575G>A c.1873C>T (p.Gln625Ter) c.1570C>T (p.Gln524Ter) c.1798C>T (p.Gln600Ter) n.4286C>T n.4942C>T n.5402C>T | dbSNP |
7 | g.148811660G>C | CA369713093 | EZH2 | n.3812C>G c.*974C>G (n.*974C>G) c.*808C>G (n.*808C>G) n.3631C>G n.2803C>G n.2228C>G n.2290C>G c.1912C>G (p.Gln638Glu) c.1780C>G (p.Gln594Glu) c.1897C>G (p.Gln633Glu) n.164C>G c.1744C>G (p.Gln582Glu) c.1870C>G (p.Gln624Glu) c.*1902C>G (n.*1902C>G) c.1921C>G (p.Gln641Glu) c.1894C>G (p.Gln632Glu) c.1768C>G (p.Gln590Glu) c.1936C>G (p.Gln646Glu) c.1909C>G (p.Gln637Glu) c.1888C>G (p.Gln630Glu) c.1885C>G (p.Gln629Glu) c.1846C>G (p.Gln616Glu) c.1819C>G (p.Gln607Glu) c.1813C>G (p.Gln605Glu) c.1810C>G (p.Gln604Glu) c.1804C>G (p.Gln602Glu) c.1795C>G (p.Gln599Glu) c.1792C>G (p.Gln598Glu) c.1678C>G (p.Gln560Glu) c.1585C>G (p.Gln529Glu) n.515+6575G>C n.722+6575G>C c.1873C>G (p.Gln625Glu) c.1570C>G (p.Gln524Glu) c.1798C>G (p.Gln600Glu) n.4286C>G n.4942C>G n.5402C>G | dbSNP |
7 | g.148811660G>T | CA369713094 | EZH2 | n.3812C>A c.*974C>A (n.*974C>A) c.*808C>A (n.*808C>A) n.3631C>A n.2803C>A n.2228C>A n.2290C>A c.1912C>A (p.Gln638Lys) c.1780C>A (p.Gln594Lys) c.1897C>A (p.Gln633Lys) n.164C>A c.1744C>A (p.Gln582Lys) c.1870C>A (p.Gln624Lys) c.*1902C>A (n.*1902C>A) c.1921C>A (p.Gln641Lys) c.1894C>A (p.Gln632Lys) c.1768C>A (p.Gln590Lys) c.1936C>A (p.Gln646Lys) c.1909C>A (p.Gln637Lys) c.1888C>A (p.Gln630Lys) c.1885C>A (p.Gln629Lys) c.1846C>A (p.Gln616Lys) c.1819C>A (p.Gln607Lys) c.1813C>A (p.Gln605Lys) c.1810C>A (p.Gln604Lys) c.1804C>A (p.Gln602Lys) c.1795C>A (p.Gln599Lys) c.1792C>A (p.Gln598Lys) c.1678C>A (p.Gln560Lys) c.1585C>A (p.Gln529Lys) n.515+6575G>T n.722+6575G>T c.1873C>A (p.Gln625Lys) c.1570C>A (p.Gln524Lys) c.1798C>A (p.Gln600Lys) n.4286C>A n.4942C>A n.5402C>A | dbSNP |
7 | g.148811661C>A | CA458345819 | EZH2 | n.3811G>T c.*973G>T (n.*973G>T) c.*807G>T (n.*807G>T) n.3630G>T n.2802G>T n.2227G>T n.2289G>T c.1911G>T (p.Val637=) c.1779G>T (p.Val593=) c.1896G>T (p.Val632=) n.163G>T c.1743G>T (p.Val581=) c.1869G>T (p.Val623=) c.*1901G>T (n.*1901G>T) c.1920G>T (p.Val640=) c.1893G>T (p.Val631=) c.1767G>T (p.Val589=) c.1935G>T (p.Val645=) c.1908G>T (p.Val636=) c.1887G>T (p.Val629=) c.1884G>T (p.Val628=) c.1845G>T (p.Val615=) c.1818G>T (p.Val606=) c.1812G>T (p.Val604=) c.1809G>T (p.Val603=) c.1803G>T (p.Val601=) c.1794G>T (p.Val598=) c.1791G>T (p.Val597=) c.1677G>T (p.Val559=) c.1584G>T (p.Val528=) n.515+6576C>A n.722+6576C>A c.1872G>T (p.Val624=) c.1569G>T (p.Val523=) c.1797G>T (p.Val599=) n.4285G>T n.4941G>T n.5401G>T | dbSNP gnomAD v3 gnomAD v4 |
7 | g.148811661C= | CA1751424150 | EZH2 | n.3811G= c.*973G= (n.*973G=) c.*807G= (n.*807G=) n.3630G= n.2802G= n.2227G= n.2289G= c.1911G= (p.Val637=) c.1779G= (p.Val593=) c.1896G= (p.Val632=) n.163G= c.1743G= (p.Val581=) c.1869G= (p.Val623=) c.*1901G= (n.*1901G=) c.1920G= (p.Val640=) c.1893G= (p.Val631=) c.1767G= (p.Val589=) c.1935G= (p.Val645=) c.1908G= (p.Val636=) c.1887G= (p.Val629=) c.1884G= (p.Val628=) c.1845G= (p.Val615=) c.1818G= (p.Val606=) c.1812G= (p.Val604=) c.1809G= (p.Val603=) c.1803G= (p.Val601=) c.1794G= (p.Val598=) c.1791G= (p.Val597=) c.1677G= (p.Val559=) c.1584G= (p.Val528=) n.515+6576C= n.722+6576C= c.1872G= (p.Val624=) c.1569G= (p.Val523=) c.1797G= (p.Val599=) n.4285G= n.4941G= n.5401G= | |
7 | g.148811661C>G | CA458345821 | EZH2 | n.3811G>C c.*973G>C (n.*973G>C) c.*807G>C (n.*807G>C) n.3630G>C n.2802G>C n.2227G>C n.2289G>C c.1911G>C (p.Val637=) c.1779G>C (p.Val593=) c.1896G>C (p.Val632=) n.163G>C c.1743G>C (p.Val581=) c.1869G>C (p.Val623=) c.*1901G>C (n.*1901G>C) c.1920G>C (p.Val640=) c.1893G>C (p.Val631=) c.1767G>C (p.Val589=) c.1935G>C (p.Val645=) c.1908G>C (p.Val636=) c.1887G>C (p.Val629=) c.1884G>C (p.Val628=) c.1845G>C (p.Val615=) c.1818G>C (p.Val606=) c.1812G>C (p.Val604=) c.1809G>C (p.Val603=) c.1803G>C (p.Val601=) c.1794G>C (p.Val598=) c.1791G>C (p.Val597=) c.1677G>C (p.Val559=) c.1584G>C (p.Val528=) n.515+6576C>G n.722+6576C>G c.1872G>C (p.Val624=) c.1569G>C (p.Val523=) c.1797G>C (p.Val599=) n.4285G>C n.4941G>C n.5401G>C | dbSNP |
7 | g.148811661C>T | CA458345820 | EZH2 | n.3811G>A c.*973G>A (n.*973G>A) c.*807G>A (n.*807G>A) n.3630G>A n.2802G>A n.2227G>A n.2289G>A c.1911G>A (p.Val637=) c.1779G>A (p.Val593=) c.1896G>A (p.Val632=) n.163G>A c.1743G>A (p.Val581=) c.1869G>A (p.Val623=) c.*1901G>A (n.*1901G>A) c.1920G>A (p.Val640=) c.1893G>A (p.Val631=) c.1767G>A (p.Val589=) c.1935G>A (p.Val645=) c.1908G>A (p.Val636=) c.1887G>A (p.Val629=) c.1884G>A (p.Val628=) c.1845G>A (p.Val615=) c.1818G>A (p.Val606=) c.1812G>A (p.Val604=) c.1809G>A (p.Val603=) c.1803G>A (p.Val601=) c.1794G>A (p.Val598=) c.1791G>A (p.Val597=) c.1677G>A (p.Val559=) c.1584G>A (p.Val528=) n.515+6576C>T n.722+6576C>T c.1872G>A (p.Val624=) c.1569G>A (p.Val523=) c.1797G>A (p.Val599=) n.4285G>A n.4941G>A n.5401G>A | dbSNP gnomAD v4 COSMIC COSMIC |
7 | g.148811662A>C | CA369713095 | EZH2 | n.3810T>G c.*972T>G (n.*972T>G) c.*806T>G (n.*806T>G) n.3629T>G n.2801T>G n.2226T>G n.2288T>G c.1910T>G (p.Val637Gly) c.1778T>G (p.Val593Gly) c.1895T>G (p.Val632Gly) n.162T>G c.1742T>G (p.Val581Gly) c.1868T>G (p.Val623Gly) c.*1900T>G (n.*1900T>G) c.1919T>G (p.Val640Gly) c.1892T>G (p.Val631Gly) c.1766T>G (p.Val589Gly) c.1934T>G (p.Val645Gly) c.1907T>G (p.Val636Gly) c.1886T>G (p.Val629Gly) c.1883T>G (p.Val628Gly) c.1844T>G (p.Val615Gly) c.1817T>G (p.Val606Gly) c.1811T>G (p.Val604Gly) c.1808T>G (p.Val603Gly) c.1802T>G (p.Val601Gly) c.1793T>G (p.Val598Gly) c.1790T>G (p.Val597Gly) c.1676T>G (p.Val559Gly) c.1583T>G (p.Val528Gly) n.515+6577A>C n.722+6577A>C c.1871T>G (p.Val624Gly) c.1568T>G (p.Val523Gly) c.1796T>G (p.Val599Gly) n.4284T>G n.4940T>G n.5400T>G | |
7 | g.148811662A>G | CA369713096 | EZH2 | n.3810T>C c.*972T>C (n.*972T>C) c.*806T>C (n.*806T>C) n.3629T>C n.2801T>C n.2226T>C n.2288T>C c.1910T>C (p.Val637Ala) c.1778T>C (p.Val593Ala) c.1895T>C (p.Val632Ala) n.162T>C c.1742T>C (p.Val581Ala) c.1868T>C (p.Val623Ala) c.*1900T>C (n.*1900T>C) c.1919T>C (p.Val640Ala) c.1892T>C (p.Val631Ala) c.1766T>C (p.Val589Ala) c.1934T>C (p.Val645Ala) c.1907T>C (p.Val636Ala) c.1886T>C (p.Val629Ala) c.1883T>C (p.Val628Ala) c.1844T>C (p.Val615Ala) c.1817T>C (p.Val606Ala) c.1811T>C (p.Val604Ala) c.1808T>C (p.Val603Ala) c.1802T>C (p.Val601Ala) c.1793T>C (p.Val598Ala) c.1790T>C (p.Val597Ala) c.1676T>C (p.Val559Ala) c.1583T>C (p.Val528Ala) n.515+6577A>G n.722+6577A>G c.1871T>C (p.Val624Ala) c.1568T>C (p.Val523Ala) c.1796T>C (p.Val599Ala) n.4284T>C n.4940T>C n.5400T>C | |
7 | g.148811662A>T | CA369713097 | EZH2 | n.3810T>A c.*972T>A (n.*972T>A) c.*806T>A (n.*806T>A) n.3629T>A n.2801T>A n.2226T>A n.2288T>A c.1910T>A (p.Val637Glu) c.1778T>A (p.Val593Glu) c.1895T>A (p.Val632Glu) n.162T>A c.1742T>A (p.Val581Glu) c.1868T>A (p.Val623Glu) c.*1900T>A (n.*1900T>A) c.1919T>A (p.Val640Glu) c.1892T>A (p.Val631Glu) c.1766T>A (p.Val589Glu) c.1934T>A (p.Val645Glu) c.1907T>A (p.Val636Glu) c.1886T>A (p.Val629Glu) c.1883T>A (p.Val628Glu) c.1844T>A (p.Val615Glu) c.1817T>A (p.Val606Glu) c.1811T>A (p.Val604Glu) c.1808T>A (p.Val603Glu) c.1802T>A (p.Val601Glu) c.1793T>A (p.Val598Glu) c.1790T>A (p.Val597Glu) c.1676T>A (p.Val559Glu) c.1583T>A (p.Val528Glu) n.515+6577A>T n.722+6577A>T c.1871T>A (p.Val624Glu) c.1568T>A (p.Val523Glu) c.1796T>A (p.Val599Glu) n.4284T>A n.4940T>A n.5400T>A | dbSNP |
7 | g.148811663C>A | CA369713100 | EZH2 | n.3809G>T c.*971G>T (n.*971G>T) c.*805G>T (n.*805G>T) n.3628G>T n.2800G>T n.2225G>T n.2287G>T c.1909G>T (p.Val637Leu) c.1777G>T (p.Val593Leu) c.1894G>T (p.Val632Leu) n.161G>T c.1741G>T (p.Val581Leu) c.1867G>T (p.Val623Leu) c.*1899G>T (n.*1899G>T) c.1918G>T (p.Val640Leu) c.1891G>T (p.Val631Leu) c.1765G>T (p.Val589Leu) c.1933G>T (p.Val645Leu) c.1906G>T (p.Val636Leu) c.1885G>T (p.Val629Leu) c.1882G>T (p.Val628Leu) c.1843G>T (p.Val615Leu) c.1816G>T (p.Val606Leu) c.1810G>T (p.Val604Leu) c.1807G>T (p.Val603Leu) c.1801G>T (p.Val601Leu) c.1792G>T (p.Val598Leu) c.1789G>T (p.Val597Leu) c.1675G>T (p.Val559Leu) c.1582G>T (p.Val528Leu) n.515+6578C>A n.722+6578C>A c.1870G>T (p.Val624Leu) c.1567G>T (p.Val523Leu) c.1795G>T (p.Val599Leu) n.4283G>T n.4939G>T n.5399G>T | |
7 | g.148811663C>G | CA369713098 | EZH2 | n.3809G>C c.*971G>C (n.*971G>C) c.*805G>C (n.*805G>C) n.3628G>C n.2800G>C n.2225G>C n.2287G>C c.1909G>C (p.Val637Leu) c.1777G>C (p.Val593Leu) c.1894G>C (p.Val632Leu) n.161G>C c.1741G>C (p.Val581Leu) c.1867G>C (p.Val623Leu) c.*1899G>C (n.*1899G>C) c.1918G>C (p.Val640Leu) c.1891G>C (p.Val631Leu) c.1765G>C (p.Val589Leu) c.1933G>C (p.Val645Leu) c.1906G>C (p.Val636Leu) c.1885G>C (p.Val629Leu) c.1882G>C (p.Val628Leu) c.1843G>C (p.Val615Leu) c.1816G>C (p.Val606Leu) c.1810G>C (p.Val604Leu) c.1807G>C (p.Val603Leu) c.1801G>C (p.Val601Leu) c.1792G>C (p.Val598Leu) c.1789G>C (p.Val597Leu) c.1675G>C (p.Val559Leu) c.1582G>C (p.Val528Leu) n.515+6578C>G n.722+6578C>G c.1870G>C (p.Val624Leu) c.1567G>C (p.Val523Leu) c.1795G>C (p.Val599Leu) n.4283G>C n.4939G>C n.5399G>C | dbSNP gnomAD v4 |
7 | g.148811663C>T | CA369713099 | EZH2 | n.3809G>A c.*971G>A (n.*971G>A) c.*805G>A (n.*805G>A) n.3628G>A n.2800G>A n.2225G>A n.2287G>A c.1909G>A (p.Val637Met) c.1777G>A (p.Val593Met) c.1894G>A (p.Val632Met) n.161G>A c.1741G>A (p.Val581Met) c.1867G>A (p.Val623Met) c.*1899G>A (n.*1899G>A) c.1918G>A (p.Val640Met) c.1891G>A (p.Val631Met) c.1765G>A (p.Val589Met) c.1933G>A (p.Val645Met) c.1906G>A (p.Val636Met) c.1885G>A (p.Val629Met) c.1882G>A (p.Val628Met) c.1843G>A (p.Val615Met) c.1816G>A (p.Val606Met) c.1810G>A (p.Val604Met) c.1807G>A (p.Val603Met) c.1801G>A (p.Val601Met) c.1792G>A (p.Val598Met) c.1789G>A (p.Val597Met) c.1675G>A (p.Val559Met) c.1582G>A (p.Val528Met) n.515+6578C>T n.722+6578C>T c.1870G>A (p.Val624Met) c.1567G>A (p.Val523Met) c.1795G>A (p.Val599Met) n.4283G>A n.4939G>A n.5399G>A | dbSNP gnomAD v4 |
7 | g.148811664A= | CA1751424151 | EZH2 | n.3808T= c.*970T= (n.*970T=) c.*804T= (n.*804T=) n.3627T= n.2799T= n.2224T= n.2286T= c.1908T= (p.Pro636=) c.1776T= (p.Pro592=) c.1893T= (p.Pro631=) n.160T= c.1740T= (p.Pro580=) c.1866T= (p.Pro622=) c.*1898T= (n.*1898T=) c.1917T= (p.Pro639=) c.1890T= (p.Pro630=) c.1764T= (p.Pro588=) c.1932T= (p.Pro644=) c.1905T= (p.Pro635=) c.1884T= (p.Pro628=) c.1881T= (p.Pro627=) c.1842T= (p.Pro614=) c.1815T= (p.Pro605=) c.1809T= (p.Pro603=) c.1806T= (p.Pro602=) c.1800T= (p.Pro600=) c.1791T= (p.Pro597=) c.1788T= (p.Pro596=) c.1674T= (p.Pro558=) c.1581T= (p.Pro527=) n.515+6579A= n.722+6579A= c.1869T= (p.Pro623=) c.1566T= (p.Pro522=) c.1794T= (p.Pro598=) n.4282T= n.4938T= n.5398T= | |
7 | g.148811664A>C | CA458345822 | EZH2 | n.3808T>G c.*970T>G (n.*970T>G) c.*804T>G (n.*804T>G) n.3627T>G n.2799T>G n.2224T>G n.2286T>G c.1908T>G (p.Pro636=) c.1776T>G (p.Pro592=) c.1893T>G (p.Pro631=) n.160T>G c.1740T>G (p.Pro580=) c.1866T>G (p.Pro622=) c.*1898T>G (n.*1898T>G) c.1917T>G (p.Pro639=) c.1890T>G (p.Pro630=) c.1764T>G (p.Pro588=) c.1932T>G (p.Pro644=) c.1905T>G (p.Pro635=) c.1884T>G (p.Pro628=) c.1881T>G (p.Pro627=) c.1842T>G (p.Pro614=) c.1815T>G (p.Pro605=) c.1809T>G (p.Pro603=) c.1806T>G (p.Pro602=) c.1800T>G (p.Pro600=) c.1791T>G (p.Pro597=) c.1788T>G (p.Pro596=) c.1674T>G (p.Pro558=) c.1581T>G (p.Pro527=) n.515+6579A>C n.722+6579A>C c.1869T>G (p.Pro623=) c.1566T>G (p.Pro522=) c.1794T>G (p.Pro598=) n.4282T>G n.4938T>G n.5398T>G | dbSNP gnomAD v2 gnomAD v4 |
7 | g.148811664A>G | CA4547763 | EZH2 | n.3808T>C c.*970T>C (n.*970T>C) c.*804T>C (n.*804T>C) n.3627T>C n.2799T>C n.2224T>C n.2286T>C c.1908T>C (p.Pro636=) c.1776T>C (p.Pro592=) c.1893T>C (p.Pro631=) n.160T>C c.1740T>C (p.Pro580=) c.1866T>C (p.Pro622=) c.*1898T>C (n.*1898T>C) c.1917T>C (p.Pro639=) c.1890T>C (p.Pro630=) c.1764T>C (p.Pro588=) c.1932T>C (p.Pro644=) c.1905T>C (p.Pro635=) c.1884T>C (p.Pro628=) c.1881T>C (p.Pro627=) c.1842T>C (p.Pro614=) c.1815T>C (p.Pro605=) c.1809T>C (p.Pro603=) c.1806T>C (p.Pro602=) c.1800T>C (p.Pro600=) c.1791T>C (p.Pro597=) c.1788T>C (p.Pro596=) c.1674T>C (p.Pro558=) c.1581T>C (p.Pro527=) n.515+6579A>G n.722+6579A>G c.1869T>C (p.Pro623=) c.1566T>C (p.Pro522=) c.1794T>C (p.Pro598=) n.4282T>C n.4938T>C n.5398T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.148811664A>T | CA458345823 | EZH2 | n.3808T>A c.*970T>A (n.*970T>A) c.*804T>A (n.*804T>A) n.3627T>A n.2799T>A n.2224T>A n.2286T>A c.1908T>A (p.Pro636=) c.1776T>A (p.Pro592=) c.1893T>A (p.Pro631=) n.160T>A c.1740T>A (p.Pro580=) c.1866T>A (p.Pro622=) c.*1898T>A (n.*1898T>A) c.1917T>A (p.Pro639=) c.1890T>A (p.Pro630=) c.1764T>A (p.Pro588=) c.1932T>A (p.Pro644=) c.1905T>A (p.Pro635=) c.1884T>A (p.Pro628=) c.1881T>A (p.Pro627=) c.1842T>A (p.Pro614=) c.1815T>A (p.Pro605=) c.1809T>A (p.Pro603=) c.1806T>A (p.Pro602=) c.1800T>A (p.Pro600=) c.1791T>A (p.Pro597=) c.1788T>A (p.Pro596=) c.1674T>A (p.Pro558=) c.1581T>A (p.Pro527=) n.515+6579A>T n.722+6579A>T c.1869T>A (p.Pro623=) c.1566T>A (p.Pro522=) c.1794T>A (p.Pro598=) n.4282T>A n.4938T>A n.5398T>A | |
7 | g.148811665G>A | CA369713101 | EZH2 | n.3807C>T c.*969C>T (n.*969C>T) c.*803C>T (n.*803C>T) n.3626C>T n.2798C>T n.2223C>T n.2285C>T c.1907C>T (p.Pro636Leu) c.1775C>T (p.Pro592Leu) c.1892C>T (p.Pro631Leu) n.159C>T c.1739C>T (p.Pro580Leu) c.1865C>T (p.Pro622Leu) c.*1897C>T (n.*1897C>T) c.1916C>T (p.Pro639Leu) c.1889C>T (p.Pro630Leu) c.1763C>T (p.Pro588Leu) c.1931C>T (p.Pro644Leu) c.1904C>T (p.Pro635Leu) c.1883C>T (p.Pro628Leu) c.1880C>T (p.Pro627Leu) c.1841C>T (p.Pro614Leu) c.1814C>T (p.Pro605Leu) c.1808C>T (p.Pro603Leu) c.1805C>T (p.Pro602Leu) c.1799C>T (p.Pro600Leu) c.1790C>T (p.Pro597Leu) c.1787C>T (p.Pro596Leu) c.1673C>T (p.Pro558Leu) c.1580C>T (p.Pro527Leu) n.515+6580G>A n.722+6580G>A c.1868C>T (p.Pro623Leu) c.1565C>T (p.Pro522Leu) c.1793C>T (p.Pro598Leu) n.4281C>T n.4937C>T n.5397C>T | COSMIC |
7 | g.148811665G>C | CA369713102 | EZH2 | n.3807C>G c.*969C>G (n.*969C>G) c.*803C>G (n.*803C>G) n.3626C>G n.2798C>G n.2223C>G n.2285C>G c.1907C>G (p.Pro636Arg) c.1775C>G (p.Pro592Arg) c.1892C>G (p.Pro631Arg) n.159C>G c.1739C>G (p.Pro580Arg) c.1865C>G (p.Pro622Arg) c.*1897C>G (n.*1897C>G) c.1916C>G (p.Pro639Arg) c.1889C>G (p.Pro630Arg) c.1763C>G (p.Pro588Arg) c.1931C>G (p.Pro644Arg) c.1904C>G (p.Pro635Arg) c.1883C>G (p.Pro628Arg) c.1880C>G (p.Pro627Arg) c.1841C>G (p.Pro614Arg) c.1814C>G (p.Pro605Arg) c.1808C>G (p.Pro603Arg) c.1805C>G (p.Pro602Arg) c.1799C>G (p.Pro600Arg) c.1790C>G (p.Pro597Arg) c.1787C>G (p.Pro596Arg) c.1673C>G (p.Pro558Arg) c.1580C>G (p.Pro527Arg) n.515+6580G>C n.722+6580G>C c.1868C>G (p.Pro623Arg) c.1565C>G (p.Pro522Arg) c.1793C>G (p.Pro598Arg) n.4281C>G n.4937C>G n.5397C>G | |
7 | g.148811665G>T | CA369713103 | EZH2 | n.3807C>A c.*969C>A (n.*969C>A) c.*803C>A (n.*803C>A) n.3626C>A n.2798C>A n.2223C>A n.2285C>A c.1907C>A (p.Pro636His) c.1775C>A (p.Pro592His) c.1892C>A (p.Pro631His) n.159C>A c.1739C>A (p.Pro580His) c.1865C>A (p.Pro622His) c.*1897C>A (n.*1897C>A) c.1916C>A (p.Pro639His) c.1889C>A (p.Pro630His) c.1763C>A (p.Pro588His) c.1931C>A (p.Pro644His) c.1904C>A (p.Pro635His) c.1883C>A (p.Pro628His) c.1880C>A (p.Pro627His) c.1841C>A (p.Pro614His) c.1814C>A (p.Pro605His) c.1808C>A (p.Pro603His) c.1805C>A (p.Pro602His) c.1799C>A (p.Pro600His) c.1790C>A (p.Pro597His) c.1787C>A (p.Pro596His) c.1673C>A (p.Pro558His) c.1580C>A (p.Pro527His) n.515+6580G>T n.722+6580G>T c.1868C>A (p.Pro623His) c.1565C>A (p.Pro522His) c.1793C>A (p.Pro598His) n.4281C>A n.4937C>A n.5397C>A | |
7 | g.148811666G>A | CA369713104 | EZH2 | n.3806C>T c.*968C>T (n.*968C>T) c.*802C>T (n.*802C>T) n.3625C>T n.2797C>T n.2222C>T n.2284C>T c.1906C>T (p.Pro636Ser) c.1774C>T (p.Pro592Ser) c.1891C>T (p.Pro631Ser) n.158C>T c.1738C>T (p.Pro580Ser) c.1864C>T (p.Pro622Ser) c.*1896C>T (n.*1896C>T) c.1915C>T (p.Pro639Ser) c.1888C>T (p.Pro630Ser) c.1762C>T (p.Pro588Ser) c.1930C>T (p.Pro644Ser) c.1903C>T (p.Pro635Ser) c.1882C>T (p.Pro628Ser) c.1879C>T (p.Pro627Ser) c.1840C>T (p.Pro614Ser) c.1813C>T (p.Pro605Ser) c.1807C>T (p.Pro603Ser) c.1804C>T (p.Pro602Ser) c.1798C>T (p.Pro600Ser) c.1789C>T (p.Pro597Ser) c.1786C>T (p.Pro596Ser) c.1672C>T (p.Pro558Ser) c.1579C>T (p.Pro527Ser) n.515+6581G>A n.722+6581G>A c.1867C>T (p.Pro623Ser) c.1564C>T (p.Pro522Ser) c.1792C>T (p.Pro598Ser) n.4280C>T n.4936C>T n.5396C>T | dbSNP |
7 | g.148811666G>C | CA369713105 | EZH2 | n.3806C>G c.*968C>G (n.*968C>G) c.*802C>G (n.*802C>G) n.3625C>G n.2797C>G n.2222C>G n.2284C>G c.1906C>G (p.Pro636Ala) c.1774C>G (p.Pro592Ala) c.1891C>G (p.Pro631Ala) n.158C>G c.1738C>G (p.Pro580Ala) c.1864C>G (p.Pro622Ala) c.*1896C>G (n.*1896C>G) c.1915C>G (p.Pro639Ala) c.1888C>G (p.Pro630Ala) c.1762C>G (p.Pro588Ala) c.1930C>G (p.Pro644Ala) c.1903C>G (p.Pro635Ala) c.1882C>G (p.Pro628Ala) c.1879C>G (p.Pro627Ala) c.1840C>G (p.Pro614Ala) c.1813C>G (p.Pro605Ala) c.1807C>G (p.Pro603Ala) c.1804C>G (p.Pro602Ala) c.1798C>G (p.Pro600Ala) c.1789C>G (p.Pro597Ala) c.1786C>G (p.Pro596Ala) c.1672C>G (p.Pro558Ala) c.1579C>G (p.Pro527Ala) n.515+6581G>C n.722+6581G>C c.1867C>G (p.Pro623Ala) c.1564C>G (p.Pro522Ala) c.1792C>G (p.Pro598Ala) n.4280C>G n.4936C>G n.5396C>G | dbSNP |
7 | g.148811666G>T | CA369713106 | EZH2 | n.3806C>A c.*968C>A (n.*968C>A) c.*802C>A (n.*802C>A) n.3625C>A n.2797C>A n.2222C>A n.2284C>A c.1906C>A (p.Pro636Thr) c.1774C>A (p.Pro592Thr) c.1891C>A (p.Pro631Thr) n.158C>A c.1738C>A (p.Pro580Thr) c.1864C>A (p.Pro622Thr) c.*1896C>A (n.*1896C>A) c.1915C>A (p.Pro639Thr) c.1888C>A (p.Pro630Thr) c.1762C>A (p.Pro588Thr) c.1930C>A (p.Pro644Thr) c.1903C>A (p.Pro635Thr) c.1882C>A (p.Pro628Thr) c.1879C>A (p.Pro627Thr) c.1840C>A (p.Pro614Thr) c.1813C>A (p.Pro605Thr) c.1807C>A (p.Pro603Thr) c.1804C>A (p.Pro602Thr) c.1798C>A (p.Pro600Thr) c.1789C>A (p.Pro597Thr) c.1786C>A (p.Pro596Thr) c.1672C>A (p.Pro558Thr) c.1579C>A (p.Pro527Thr) n.515+6581G>T n.722+6581G>T c.1867C>A (p.Pro623Thr) c.1564C>A (p.Pro522Thr) c.1792C>A (p.Pro598Thr) n.4280C>A n.4936C>A n.5396C>A | dbSNP |
7 | g.148811667A= | CA1751424152 | EZH2 | n.3805T= c.*967T= (n.*967T=) c.*801T= (n.*801T=) n.3624T= n.2796T= n.2221T= n.2283T= c.1905T= (p.Asp635=) c.1773T= (p.Asp591=) c.1890T= (p.Asp630=) n.157T= c.1737T= (p.Asp579=) c.1863T= (p.Asp621=) c.*1895T= (n.*1895T=) c.1914T= (p.Asp638=) c.1887T= (p.Asp629=) c.1761T= (p.Asp587=) c.1929T= (p.Asp643=) c.1902T= (p.Asp634=) c.1881T= (p.Asp627=) c.1878T= (p.Asp626=) c.1839T= (p.Asp613=) c.1812T= (p.Asp604=) c.1806T= (p.Asp602=) c.1803T= (p.Asp601=) c.1797T= (p.Asp599=) c.1788T= (p.Asp596=) c.1785T= (p.Asp595=) c.1671T= (p.Asp557=) c.1578T= (p.Asp526=) n.515+6582A= n.722+6582A= c.1866T= (p.Asp622=) c.1563T= (p.Asp521=) c.1791T= (p.Asp597=) n.4279T= n.4935T= n.5395T= | |
7 | g.148811667A>C | CA369713107 | EZH2 | n.3805T>G c.*967T>G (n.*967T>G) c.*801T>G (n.*801T>G) n.3624T>G n.2796T>G n.2221T>G n.2283T>G c.1905T>G (p.Asp635Glu) c.1773T>G (p.Asp591Glu) c.1890T>G (p.Asp630Glu) n.157T>G c.1737T>G (p.Asp579Glu) c.1863T>G (p.Asp621Glu) c.*1895T>G (n.*1895T>G) c.1914T>G (p.Asp638Glu) c.1887T>G (p.Asp629Glu) c.1761T>G (p.Asp587Glu) c.1929T>G (p.Asp643Glu) c.1902T>G (p.Asp634Glu) c.1881T>G (p.Asp627Glu) c.1878T>G (p.Asp626Glu) c.1839T>G (p.Asp613Glu) c.1812T>G (p.Asp604Glu) c.1806T>G (p.Asp602Glu) c.1803T>G (p.Asp601Glu) c.1797T>G (p.Asp599Glu) c.1788T>G (p.Asp596Glu) c.1785T>G (p.Asp595Glu) c.1671T>G (p.Asp557Glu) c.1578T>G (p.Asp526Glu) n.515+6582A>C n.722+6582A>C c.1866T>G (p.Asp622Glu) c.1563T>G (p.Asp521Glu) c.1791T>G (p.Asp597Glu) n.4279T>G n.4935T>G n.5395T>G | |
7 | g.148811667A>G | CA4547764 | EZH2 | n.3805T>C c.*967T>C (n.*967T>C) c.*801T>C (n.*801T>C) n.3624T>C n.2796T>C n.2221T>C n.2283T>C c.1905T>C (p.Asp635=) c.1773T>C (p.Asp591=) c.1890T>C (p.Asp630=) n.157T>C c.1737T>C (p.Asp579=) c.1863T>C (p.Asp621=) c.*1895T>C (n.*1895T>C) c.1914T>C (p.Asp638=) c.1887T>C (p.Asp629=) c.1761T>C (p.Asp587=) c.1929T>C (p.Asp643=) c.1902T>C (p.Asp634=) c.1881T>C (p.Asp627=) c.1878T>C (p.Asp626=) c.1839T>C (p.Asp613=) c.1812T>C (p.Asp604=) c.1806T>C (p.Asp602=) c.1803T>C (p.Asp601=) c.1797T>C (p.Asp599=) c.1788T>C (p.Asp596=) c.1785T>C (p.Asp595=) c.1671T>C (p.Asp557=) c.1578T>C (p.Asp526=) n.515+6582A>G n.722+6582A>G c.1866T>C (p.Asp622=) c.1563T>C (p.Asp521=) c.1791T>C (p.Asp597=) n.4279T>C n.4935T>C n.5395T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.148811667A>T | CA369713108 | EZH2 | n.3805T>A c.*967T>A (n.*967T>A) c.*801T>A (n.*801T>A) n.3624T>A n.2796T>A n.2221T>A n.2283T>A c.1905T>A (p.Asp635Glu) c.1773T>A (p.Asp591Glu) c.1890T>A (p.Asp630Glu) n.157T>A c.1737T>A (p.Asp579Glu) c.1863T>A (p.Asp621Glu) c.*1895T>A (n.*1895T>A) c.1914T>A (p.Asp638Glu) c.1887T>A (p.Asp629Glu) c.1761T>A (p.Asp587Glu) c.1929T>A (p.Asp643Glu) c.1902T>A (p.Asp634Glu) c.1881T>A (p.Asp627Glu) c.1878T>A (p.Asp626Glu) c.1839T>A (p.Asp613Glu) c.1812T>A (p.Asp604Glu) c.1806T>A (p.Asp602Glu) c.1803T>A (p.Asp601Glu) c.1797T>A (p.Asp599Glu) c.1788T>A (p.Asp596Glu) c.1785T>A (p.Asp595Glu) c.1671T>A (p.Asp557Glu) c.1578T>A (p.Asp526Glu) n.515+6582A>T n.722+6582A>T c.1866T>A (p.Asp622Glu) c.1563T>A (p.Asp521Glu) c.1791T>A (p.Asp597Glu) n.4279T>A n.4935T>A n.5395T>A | dbSNP |
7 | g.148811668T>A | CA369713111 | EZH2 | n.3804A>T c.*966A>T (n.*966A>T) c.*800A>T (n.*800A>T) n.3623A>T n.2795A>T n.2220A>T n.2282A>T c.1904A>T (p.Asp635Val) c.1772A>T (p.Asp591Val) c.1889A>T (p.Asp630Val) n.156A>T c.1736A>T (p.Asp579Val) c.1862A>T (p.Asp621Val) c.*1894A>T (n.*1894A>T) c.1913A>T (p.Asp638Val) c.1886A>T (p.Asp629Val) c.1760A>T (p.Asp587Val) c.1928A>T (p.Asp643Val) c.1901A>T (p.Asp634Val) c.1880A>T (p.Asp627Val) c.1877A>T (p.Asp626Val) c.1838A>T (p.Asp613Val) c.1811A>T (p.Asp604Val) c.1805A>T (p.Asp602Val) c.1802A>T (p.Asp601Val) c.1796A>T (p.Asp599Val) c.1787A>T (p.Asp596Val) c.1784A>T (p.Asp595Val) c.1670A>T (p.Asp557Val) c.1577A>T (p.Asp526Val) n.515+6583T>A n.722+6583T>A c.1865A>T (p.Asp622Val) c.1562A>T (p.Asp521Val) c.1790A>T (p.Asp597Val) n.4278A>T n.4934A>T n.5394A>T | |
7 | g.148811668T>C | CA369713110 | EZH2 | n.3804A>G c.*966A>G (n.*966A>G) c.*800A>G (n.*800A>G) n.3623A>G n.2795A>G n.2220A>G n.2282A>G c.1904A>G (p.Asp635Gly) c.1772A>G (p.Asp591Gly) c.1889A>G (p.Asp630Gly) n.156A>G c.1736A>G (p.Asp579Gly) c.1862A>G (p.Asp621Gly) c.*1894A>G (n.*1894A>G) c.1913A>G (p.Asp638Gly) c.1886A>G (p.Asp629Gly) c.1760A>G (p.Asp587Gly) c.1928A>G (p.Asp643Gly) c.1901A>G (p.Asp634Gly) c.1880A>G (p.Asp627Gly) c.1877A>G (p.Asp626Gly) c.1838A>G (p.Asp613Gly) c.1811A>G (p.Asp604Gly) c.1805A>G (p.Asp602Gly) c.1802A>G (p.Asp601Gly) c.1796A>G (p.Asp599Gly) c.1787A>G (p.Asp596Gly) c.1784A>G (p.Asp595Gly) c.1670A>G (p.Asp557Gly) c.1577A>G (p.Asp526Gly) n.515+6583T>C n.722+6583T>C c.1865A>G (p.Asp622Gly) c.1562A>G (p.Asp521Gly) c.1790A>G (p.Asp597Gly) n.4278A>G n.4934A>G n.5394A>G | |
7 | g.148811668T>G | CA369713109 | EZH2 | n.3804A>C c.*966A>C (n.*966A>C) c.*800A>C (n.*800A>C) n.3623A>C n.2795A>C n.2220A>C n.2282A>C c.1904A>C (p.Asp635Ala) c.1772A>C (p.Asp591Ala) c.1889A>C (p.Asp630Ala) n.156A>C c.1736A>C (p.Asp579Ala) c.1862A>C (p.Asp621Ala) c.*1894A>C (n.*1894A>C) c.1913A>C (p.Asp638Ala) c.1886A>C (p.Asp629Ala) c.1760A>C (p.Asp587Ala) c.1928A>C (p.Asp643Ala) c.1901A>C (p.Asp634Ala) c.1880A>C (p.Asp627Ala) c.1877A>C (p.Asp626Ala) c.1838A>C (p.Asp613Ala) c.1811A>C (p.Asp604Ala) c.1805A>C (p.Asp602Ala) c.1802A>C (p.Asp601Ala) c.1796A>C (p.Asp599Ala) c.1787A>C (p.Asp596Ala) c.1784A>C (p.Asp595Ala) c.1670A>C (p.Asp557Ala) c.1577A>C (p.Asp526Ala) n.515+6583T>G n.722+6583T>G c.1865A>C (p.Asp622Ala) c.1562A>C (p.Asp521Ala) c.1790A>C (p.Asp597Ala) n.4278A>C n.4934A>C n.5394A>C | |
7 | g.148811669C>A | CA369713112 | EZH2 | n.3803G>T c.*965G>T (n.*965G>T) c.*799G>T (n.*799G>T) n.3622G>T n.2794G>T n.2219G>T n.2281G>T c.1903G>T (p.Asp635Tyr) c.1771G>T (p.Asp591Tyr) c.1888G>T (p.Asp630Tyr) n.155G>T c.1735G>T (p.Asp579Tyr) c.1861G>T (p.Asp621Tyr) c.*1893G>T (n.*1893G>T) c.1912G>T (p.Asp638Tyr) c.1885G>T (p.Asp629Tyr) c.1759G>T (p.Asp587Tyr) c.1927G>T (p.Asp643Tyr) c.1900G>T (p.Asp634Tyr) c.1879G>T (p.Asp627Tyr) c.1876G>T (p.Asp626Tyr) c.1837G>T (p.Asp613Tyr) c.1810G>T (p.Asp604Tyr) c.1804G>T (p.Asp602Tyr) c.1801G>T (p.Asp601Tyr) c.1795G>T (p.Asp599Tyr) c.1786G>T (p.Asp596Tyr) c.1783G>T (p.Asp595Tyr) c.1669G>T (p.Asp557Tyr) c.1576G>T (p.Asp526Tyr) n.515+6584C>A n.722+6584C>A c.1864G>T (p.Asp622Tyr) c.1561G>T (p.Asp521Tyr) c.1789G>T (p.Asp597Tyr) n.4277G>T n.4933G>T n.5393G>T | |
7 | g.148811669C>G | CA369713113 | EZH2 | n.3803G>C c.*965G>C (n.*965G>C) c.*799G>C (n.*799G>C) n.3622G>C n.2794G>C n.2219G>C n.2281G>C c.1903G>C (p.Asp635His) c.1771G>C (p.Asp591His) c.1888G>C (p.Asp630His) n.155G>C c.1735G>C (p.Asp579His) c.1861G>C (p.Asp621His) c.*1893G>C (n.*1893G>C) c.1912G>C (p.Asp638His) c.1885G>C (p.Asp629His) c.1759G>C (p.Asp587His) c.1927G>C (p.Asp643His) c.1900G>C (p.Asp634His) c.1879G>C (p.Asp627His) c.1876G>C (p.Asp626His) c.1837G>C (p.Asp613His) c.1810G>C (p.Asp604His) c.1804G>C (p.Asp602His) c.1801G>C (p.Asp601His) c.1795G>C (p.Asp599His) c.1786G>C (p.Asp596His) c.1783G>C (p.Asp595His) c.1669G>C (p.Asp557His) c.1576G>C (p.Asp526His) n.515+6584C>G n.722+6584C>G c.1864G>C (p.Asp622His) c.1561G>C (p.Asp521His) c.1789G>C (p.Asp597His) n.4277G>C n.4933G>C n.5393G>C | |
7 | g.148811669C>T | CA369713114 | EZH2 | n.3803G>A c.*965G>A (n.*965G>A) c.*799G>A (n.*799G>A) n.3622G>A n.2794G>A n.2219G>A n.2281G>A c.1903G>A (p.Asp635Asn) c.1771G>A (p.Asp591Asn) c.1888G>A (p.Asp630Asn) n.155G>A c.1735G>A (p.Asp579Asn) c.1861G>A (p.Asp621Asn) c.*1893G>A (n.*1893G>A) c.1912G>A (p.Asp638Asn) c.1885G>A (p.Asp629Asn) c.1759G>A (p.Asp587Asn) c.1927G>A (p.Asp643Asn) c.1900G>A (p.Asp634Asn) c.1879G>A (p.Asp627Asn) c.1876G>A (p.Asp626Asn) c.1837G>A (p.Asp613Asn) c.1810G>A (p.Asp604Asn) c.1804G>A (p.Asp602Asn) c.1801G>A (p.Asp601Asn) c.1795G>A (p.Asp599Asn) c.1786G>A (p.Asp596Asn) c.1783G>A (p.Asp595Asn) c.1669G>A (p.Asp557Asn) c.1576G>A (p.Asp526Asn) n.515+6584C>T n.722+6584C>T c.1864G>A (p.Asp622Asn) c.1561G>A (p.Asp521Asn) c.1789G>A (p.Asp597Asn) n.4277G>A n.4933G>A n.5393G>A | |
7 | g.148811670T>A | CA369713115 | EZH2 | n.3802A>T c.*964A>T (n.*964A>T) c.*798A>T (n.*798A>T) n.3621A>T n.2793A>T n.2218A>T n.2280A>T c.1902A>T (p.Lys634Asn) c.1770A>T (p.Lys590Asn) c.1887A>T (p.Lys629Asn) n.154A>T c.1734A>T (p.Lys578Asn) c.1860A>T (p.Lys620Asn) c.*1892A>T (n.*1892A>T) c.1911A>T (p.Lys637Asn) c.1884A>T (p.Lys628Asn) c.1758A>T (p.Lys586Asn) c.1926A>T (p.Lys642Asn) c.1899A>T (p.Lys633Asn) c.1878A>T (p.Lys626Asn) c.1875A>T (p.Lys625Asn) c.1836A>T (p.Lys612Asn) c.1809A>T (p.Lys603Asn) c.1803A>T (p.Lys601Asn) c.1800A>T (p.Lys600Asn) c.1794A>T (p.Lys598Asn) c.1785A>T (p.Lys595Asn) c.1782A>T (p.Lys594Asn) c.1668A>T (p.Lys556Asn) c.1575A>T (p.Lys525Asn) n.515+6585T>A n.722+6585T>A c.1863A>T (p.Lys621Asn) c.1560A>T (p.Lys520Asn) c.1788A>T (p.Lys596Asn) n.4276A>T n.4932A>T n.5392A>T | dbSNP gnomAD v4 |
7 | g.148811670T>C | CA458345824 | EZH2 | n.3802A>G c.*964A>G (n.*964A>G) c.*798A>G (n.*798A>G) n.3621A>G n.2793A>G n.2218A>G n.2280A>G c.1902A>G (p.Lys634=) c.1770A>G (p.Lys590=) c.1887A>G (p.Lys629=) n.154A>G c.1734A>G (p.Lys578=) c.1860A>G (p.Lys620=) c.*1892A>G (n.*1892A>G) c.1911A>G (p.Lys637=) c.1884A>G (p.Lys628=) c.1758A>G (p.Lys586=) c.1926A>G (p.Lys642=) c.1899A>G (p.Lys633=) c.1878A>G (p.Lys626=) c.1875A>G (p.Lys625=) c.1836A>G (p.Lys612=) c.1809A>G (p.Lys603=) c.1803A>G (p.Lys601=) c.1800A>G (p.Lys600=) c.1794A>G (p.Lys598=) c.1785A>G (p.Lys595=) c.1782A>G (p.Lys594=) c.1668A>G (p.Lys556=) c.1575A>G (p.Lys525=) n.515+6585T>C n.722+6585T>C c.1863A>G (p.Lys621=) c.1560A>G (p.Lys520=) c.1788A>G (p.Lys596=) n.4276A>G n.4932A>G n.5392A>G | dbSNP |
7 | g.148811670T>G | CA369713116 | EZH2 | n.3802A>C c.*964A>C (n.*964A>C) c.*798A>C (n.*798A>C) n.3621A>C n.2793A>C n.2218A>C n.2280A>C c.1902A>C (p.Lys634Asn) c.1770A>C (p.Lys590Asn) c.1887A>C (p.Lys629Asn) n.154A>C c.1734A>C (p.Lys578Asn) c.1860A>C (p.Lys620Asn) c.*1892A>C (n.*1892A>C) c.1911A>C (p.Lys637Asn) c.1884A>C (p.Lys628Asn) c.1758A>C (p.Lys586Asn) c.1926A>C (p.Lys642Asn) c.1899A>C (p.Lys633Asn) c.1878A>C (p.Lys626Asn) c.1875A>C (p.Lys625Asn) c.1836A>C (p.Lys612Asn) c.1809A>C (p.Lys603Asn) c.1803A>C (p.Lys601Asn) c.1800A>C (p.Lys600Asn) c.1794A>C (p.Lys598Asn) c.1785A>C (p.Lys595Asn) c.1782A>C (p.Lys594Asn) c.1668A>C (p.Lys556Asn) c.1575A>C (p.Lys525Asn) n.515+6585T>G n.722+6585T>G c.1863A>C (p.Lys621Asn) c.1560A>C (p.Lys520Asn) c.1788A>C (p.Lys596Asn) n.4276A>C n.4932A>C n.5392A>C | |
7 | g.148811671T>A | CA369713117 | EZH2 | n.3801A>T c.*963A>T (n.*963A>T) c.*797A>T (n.*797A>T) n.3620A>T n.2792A>T n.2217A>T n.2279A>T c.1901A>T (p.Lys634Ile) c.1769A>T (p.Lys590Ile) c.1886A>T (p.Lys629Ile) n.153A>T c.1733A>T (p.Lys578Ile) c.1859A>T (p.Lys620Ile) c.*1891A>T (n.*1891A>T) c.1910A>T (p.Lys637Ile) c.1883A>T (p.Lys628Ile) c.1757A>T (p.Lys586Ile) c.1925A>T (p.Lys642Ile) c.1898A>T (p.Lys633Ile) c.1877A>T (p.Lys626Ile) c.1874A>T (p.Lys625Ile) c.1835A>T (p.Lys612Ile) c.1808A>T (p.Lys603Ile) c.1802A>T (p.Lys601Ile) c.1799A>T (p.Lys600Ile) c.1793A>T (p.Lys598Ile) c.1784A>T (p.Lys595Ile) c.1781A>T (p.Lys594Ile) c.1667A>T (p.Lys556Ile) c.1574A>T (p.Lys525Ile) n.515+6586T>A n.722+6586T>A c.1862A>T (p.Lys621Ile) c.1559A>T (p.Lys520Ile) c.1787A>T (p.Lys596Ile) n.4275A>T n.4931A>T n.5391A>T | |
7 | g.148811671T>C | CA369713118 | EZH2 | n.3801A>G c.*963A>G (n.*963A>G) c.*797A>G (n.*797A>G) n.3620A>G n.2792A>G n.2217A>G n.2279A>G c.1901A>G (p.Lys634Arg) c.1769A>G (p.Lys590Arg) c.1886A>G (p.Lys629Arg) n.153A>G c.1733A>G (p.Lys578Arg) c.1859A>G (p.Lys620Arg) c.*1891A>G (n.*1891A>G) c.1910A>G (p.Lys637Arg) c.1883A>G (p.Lys628Arg) c.1757A>G (p.Lys586Arg) c.1925A>G (p.Lys642Arg) c.1898A>G (p.Lys633Arg) c.1877A>G (p.Lys626Arg) c.1874A>G (p.Lys625Arg) c.1835A>G (p.Lys612Arg) c.1808A>G (p.Lys603Arg) c.1802A>G (p.Lys601Arg) c.1799A>G (p.Lys600Arg) c.1793A>G (p.Lys598Arg) c.1784A>G (p.Lys595Arg) c.1781A>G (p.Lys594Arg) c.1667A>G (p.Lys556Arg) c.1574A>G (p.Lys525Arg) n.515+6586T>C n.722+6586T>C c.1862A>G (p.Lys621Arg) c.1559A>G (p.Lys520Arg) c.1787A>G (p.Lys596Arg) n.4275A>G n.4931A>G n.5391A>G | dbSNP |
7 | g.148811671T>G | CA369713119 | EZH2 | n.3801A>C c.*963A>C (n.*963A>C) c.*797A>C (n.*797A>C) n.3620A>C n.2792A>C n.2217A>C n.2279A>C c.1901A>C (p.Lys634Thr) c.1769A>C (p.Lys590Thr) c.1886A>C (p.Lys629Thr) n.153A>C c.1733A>C (p.Lys578Thr) c.1859A>C (p.Lys620Thr) c.*1891A>C (n.*1891A>C) c.1910A>C (p.Lys637Thr) c.1883A>C (p.Lys628Thr) c.1757A>C (p.Lys586Thr) c.1925A>C (p.Lys642Thr) c.1898A>C (p.Lys633Thr) c.1877A>C (p.Lys626Thr) c.1874A>C (p.Lys625Thr) c.1835A>C (p.Lys612Thr) c.1808A>C (p.Lys603Thr) c.1802A>C (p.Lys601Thr) c.1799A>C (p.Lys600Thr) c.1793A>C (p.Lys598Thr) c.1784A>C (p.Lys595Thr) c.1781A>C (p.Lys594Thr) c.1667A>C (p.Lys556Thr) c.1574A>C (p.Lys525Thr) n.515+6586T>G n.722+6586T>G c.1862A>C (p.Lys621Thr) c.1559A>C (p.Lys520Thr) c.1787A>C (p.Lys596Thr) n.4275A>C n.4931A>C n.5391A>C | |
7 | g.148811671T= | CA1751424153 | EZH2 | n.3801A= c.*963A= (n.*963A=) c.*797A= (n.*797A=) n.3620A= n.2792A= n.2217A= n.2279A= c.1901A= (p.Lys634=) c.1769A= (p.Lys590=) c.1886A= (p.Lys629=) n.153A= c.1733A= (p.Lys578=) c.1859A= (p.Lys620=) c.*1891A= (n.*1891A=) c.1910A= (p.Lys637=) c.1883A= (p.Lys628=) c.1757A= (p.Lys586=) c.1925A= (p.Lys642=) c.1898A= (p.Lys633=) c.1877A= (p.Lys626=) c.1874A= (p.Lys625=) c.1835A= (p.Lys612=) c.1808A= (p.Lys603=) c.1802A= (p.Lys601=) c.1799A= (p.Lys600=) c.1793A= (p.Lys598=) c.1784A= (p.Lys595=) c.1781A= (p.Lys594=) c.1667A= (p.Lys556=) c.1574A= (p.Lys525=) n.515+6586T= n.722+6586T= c.1862A= (p.Lys621=) c.1559A= (p.Lys520=) c.1787A= (p.Lys596=) n.4275A= n.4931A= n.5391A= | |
7 | g.148811672T>A | CA369713120 | EZH2 | n.3800A>T c.*962A>T (n.*962A>T) c.*796A>T (n.*796A>T) n.3619A>T n.2791A>T n.2216A>T n.2278A>T c.1900A>T (p.Lys634Ter) c.1768A>T (p.Lys590Ter) c.1885A>T (p.Lys629Ter) n.152A>T c.1732A>T (p.Lys578Ter) c.1858A>T (p.Lys620Ter) c.*1890A>T (n.*1890A>T) c.1909A>T (p.Lys637Ter) c.1882A>T (p.Lys628Ter) c.1756A>T (p.Lys586Ter) c.1924A>T (p.Lys642Ter) c.1897A>T (p.Lys633Ter) c.1876A>T (p.Lys626Ter) c.1873A>T (p.Lys625Ter) c.1834A>T (p.Lys612Ter) c.1807A>T (p.Lys603Ter) c.1801A>T (p.Lys601Ter) c.1798A>T (p.Lys600Ter) c.1792A>T (p.Lys598Ter) c.1783A>T (p.Lys595Ter) c.1780A>T (p.Lys594Ter) c.1666A>T (p.Lys556Ter) c.1573A>T (p.Lys525Ter) n.515+6587T>A n.722+6587T>A c.1861A>T (p.Lys621Ter) c.1558A>T (p.Lys520Ter) c.1786A>T (p.Lys596Ter) n.4274A>T n.4930A>T n.5390A>T | |
7 | g.148811672T>C | CA369713121 | EZH2 | n.3800A>G c.*962A>G (n.*962A>G) c.*796A>G (n.*796A>G) n.3619A>G n.2791A>G n.2216A>G n.2278A>G c.1900A>G (p.Lys634Glu) c.1768A>G (p.Lys590Glu) c.1885A>G (p.Lys629Glu) n.152A>G c.1732A>G (p.Lys578Glu) c.1858A>G (p.Lys620Glu) c.*1890A>G (n.*1890A>G) c.1909A>G (p.Lys637Glu) c.1882A>G (p.Lys628Glu) c.1756A>G (p.Lys586Glu) c.1924A>G (p.Lys642Glu) c.1897A>G (p.Lys633Glu) c.1876A>G (p.Lys626Glu) c.1873A>G (p.Lys625Glu) c.1834A>G (p.Lys612Glu) c.1807A>G (p.Lys603Glu) c.1801A>G (p.Lys601Glu) c.1798A>G (p.Lys600Glu) c.1792A>G (p.Lys598Glu) c.1783A>G (p.Lys595Glu) c.1780A>G (p.Lys594Glu) c.1666A>G (p.Lys556Glu) c.1573A>G (p.Lys525Glu) n.515+6587T>C n.722+6587T>C c.1861A>G (p.Lys621Glu) c.1558A>G (p.Lys520Glu) c.1786A>G (p.Lys596Glu) n.4274A>G n.4930A>G n.5390A>G | dbSNP |
7 | g.148811672T>G | CA369713122 | EZH2 | n.3800A>C c.*962A>C (n.*962A>C) c.*796A>C (n.*796A>C) n.3619A>C n.2791A>C n.2216A>C n.2278A>C c.1900A>C (p.Lys634Gln) c.1768A>C (p.Lys590Gln) c.1885A>C (p.Lys629Gln) n.152A>C c.1732A>C (p.Lys578Gln) c.1858A>C (p.Lys620Gln) c.*1890A>C (n.*1890A>C) c.1909A>C (p.Lys637Gln) c.1882A>C (p.Lys628Gln) c.1756A>C (p.Lys586Gln) c.1924A>C (p.Lys642Gln) c.1897A>C (p.Lys633Gln) c.1876A>C (p.Lys626Gln) c.1873A>C (p.Lys625Gln) c.1834A>C (p.Lys612Gln) c.1807A>C (p.Lys603Gln) c.1801A>C (p.Lys601Gln) c.1798A>C (p.Lys600Gln) c.1792A>C (p.Lys598Gln) c.1783A>C (p.Lys595Gln) c.1780A>C (p.Lys594Gln) c.1666A>C (p.Lys556Gln) c.1573A>C (p.Lys525Gln) n.515+6587T>G n.722+6587T>G c.1861A>C (p.Lys621Gln) c.1558A>C (p.Lys520Gln) c.1786A>C (p.Lys596Gln) n.4274A>C n.4930A>C n.5390A>C | |
7 | g.148811673G>A | CA458345825 | EZH2 | n.3799C>T c.*961C>T (n.*961C>T) c.*795C>T (n.*795C>T) n.3618C>T n.2790C>T n.2215C>T n.2277C>T c.1899C>T (p.Ile633=) c.1767C>T (p.Ile589=) c.1884C>T (p.Ile628=) n.151C>T c.1731C>T (p.Ile577=) c.1857C>T (p.Ile619=) c.*1889C>T (n.*1889C>T) c.1908C>T (p.Ile636=) c.1881C>T (p.Ile627=) c.1755C>T (p.Ile585=) c.1923C>T (p.Ile641=) c.1896C>T (p.Ile632=) c.1875C>T (p.Ile625=) c.1872C>T (p.Ile624=) c.1833C>T (p.Ile611=) c.1806C>T (p.Ile602=) c.1800C>T (p.Ile600=) c.1797C>T (p.Ile599=) c.1791C>T (p.Ile597=) c.1782C>T (p.Ile594=) c.1779C>T (p.Ile593=) c.1665C>T (p.Ile555=) c.1572C>T (p.Ile524=) n.515+6588G>A n.722+6588G>A c.1860C>T (p.Ile620=) c.1557C>T (p.Ile519=) c.1785C>T (p.Ile595=) n.4273C>T n.4929C>T n.5389C>T | dbSNP |
7 | g.148811673G>C | CA4547765 | EZH2 | n.3799C>G c.*961C>G (n.*961C>G) c.*795C>G (n.*795C>G) n.3618C>G n.2790C>G n.2215C>G n.2277C>G c.1899C>G (p.Ile633Met) c.1767C>G (p.Ile589Met) c.1884C>G (p.Ile628Met) n.151C>G c.1731C>G (p.Ile577Met) c.1857C>G (p.Ile619Met) c.*1889C>G (n.*1889C>G) c.1908C>G (p.Ile636Met) c.1881C>G (p.Ile627Met) c.1755C>G (p.Ile585Met) c.1923C>G (p.Ile641Met) c.1896C>G (p.Ile632Met) c.1875C>G (p.Ile625Met) c.1872C>G (p.Ile624Met) c.1833C>G (p.Ile611Met) c.1806C>G (p.Ile602Met) c.1800C>G (p.Ile600Met) c.1797C>G (p.Ile599Met) c.1791C>G (p.Ile597Met) c.1782C>G (p.Ile594Met) c.1779C>G (p.Ile593Met) c.1665C>G (p.Ile555Met) c.1572C>G (p.Ile524Met) n.515+6588G>C n.722+6588G>C c.1860C>G (p.Ile620Met) c.1557C>G (p.Ile519Met) c.1785C>G (p.Ile595Met) n.4273C>G n.4929C>G n.5389C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.148811673G= | CA1751424154 | EZH2 | n.3799C= c.*961C= (n.*961C=) c.*795C= (n.*795C=) n.3618C= n.2790C= n.2215C= n.2277C= c.1899C= (p.Ile633=) c.1767C= (p.Ile589=) c.1884C= (p.Ile628=) n.151C= c.1731C= (p.Ile577=) c.1857C= (p.Ile619=) c.*1889C= (n.*1889C=) c.1908C= (p.Ile636=) c.1881C= (p.Ile627=) c.1755C= (p.Ile585=) c.1923C= (p.Ile641=) c.1896C= (p.Ile632=) c.1875C= (p.Ile625=) c.1872C= (p.Ile624=) c.1833C= (p.Ile611=) c.1806C= (p.Ile602=) c.1800C= (p.Ile600=) c.1797C= (p.Ile599=) c.1791C= (p.Ile597=) c.1782C= (p.Ile594=) c.1779C= (p.Ile593=) c.1665C= (p.Ile555=) c.1572C= (p.Ile524=) n.515+6588G= n.722+6588G= c.1860C= (p.Ile620=) c.1557C= (p.Ile519=) c.1785C= (p.Ile595=) n.4273C= n.4929C= n.5389C= | |
7 | g.148811673G>T | CA458345826 | EZH2 | n.3799C>A c.*961C>A (n.*961C>A) c.*795C>A (n.*795C>A) n.3618C>A n.2790C>A n.2215C>A n.2277C>A c.1899C>A (p.Ile633=) c.1767C>A (p.Ile589=) c.1884C>A (p.Ile628=) n.151C>A c.1731C>A (p.Ile577=) c.1857C>A (p.Ile619=) c.*1889C>A (n.*1889C>A) c.1908C>A (p.Ile636=) c.1881C>A (p.Ile627=) c.1755C>A (p.Ile585=) c.1923C>A (p.Ile641=) c.1896C>A (p.Ile632=) c.1875C>A (p.Ile625=) c.1872C>A (p.Ile624=) c.1833C>A (p.Ile611=) c.1806C>A (p.Ile602=) c.1800C>A (p.Ile600=) c.1797C>A (p.Ile599=) c.1791C>A (p.Ile597=) c.1782C>A (p.Ile594=) c.1779C>A (p.Ile593=) c.1665C>A (p.Ile555=) c.1572C>A (p.Ile524=) n.515+6588G>T n.722+6588G>T c.1860C>A (p.Ile620=) c.1557C>A (p.Ile519=) c.1785C>A (p.Ile595=) n.4273C>A n.4929C>A n.5389C>A | ClinVar dbSNP |
7 | g.148811674A>C | CA369713125 | EZH2 | n.3798T>G c.*960T>G (n.*960T>G) c.*794T>G (n.*794T>G) n.3617T>G n.2789T>G n.2214T>G n.2276T>G c.1898T>G (p.Ile633Ser) c.1766T>G (p.Ile589Ser) c.1883T>G (p.Ile628Ser) n.150T>G c.1730T>G (p.Ile577Ser) c.1856T>G (p.Ile619Ser) c.*1888T>G (n.*1888T>G) c.1907T>G (p.Ile636Ser) c.1880T>G (p.Ile627Ser) c.1754T>G (p.Ile585Ser) c.1922T>G (p.Ile641Ser) c.1895T>G (p.Ile632Ser) c.1874T>G (p.Ile625Ser) c.1871T>G (p.Ile624Ser) c.1832T>G (p.Ile611Ser) c.1805T>G (p.Ile602Ser) c.1799T>G (p.Ile600Ser) c.1796T>G (p.Ile599Ser) c.1790T>G (p.Ile597Ser) c.1781T>G (p.Ile594Ser) c.1778T>G (p.Ile593Ser) c.1664T>G (p.Ile555Ser) c.1571T>G (p.Ile524Ser) n.515+6589A>C n.722+6589A>C c.1859T>G (p.Ile620Ser) c.1556T>G (p.Ile519Ser) c.1784T>G (p.Ile595Ser) n.4272T>G n.4928T>G n.5388T>G | |
7 | g.148811674A>G | CA369713123 | EZH2 | n.3798T>C c.*960T>C (n.*960T>C) c.*794T>C (n.*794T>C) n.3617T>C n.2789T>C n.2214T>C n.2276T>C c.1898T>C (p.Ile633Thr) c.1766T>C (p.Ile589Thr) c.1883T>C (p.Ile628Thr) n.150T>C c.1730T>C (p.Ile577Thr) c.1856T>C (p.Ile619Thr) c.*1888T>C (n.*1888T>C) c.1907T>C (p.Ile636Thr) c.1880T>C (p.Ile627Thr) c.1754T>C (p.Ile585Thr) c.1922T>C (p.Ile641Thr) c.1895T>C (p.Ile632Thr) c.1874T>C (p.Ile625Thr) c.1871T>C (p.Ile624Thr) c.1832T>C (p.Ile611Thr) c.1805T>C (p.Ile602Thr) c.1799T>C (p.Ile600Thr) c.1796T>C (p.Ile599Thr) c.1790T>C (p.Ile597Thr) c.1781T>C (p.Ile594Thr) c.1778T>C (p.Ile593Thr) c.1664T>C (p.Ile555Thr) c.1571T>C (p.Ile524Thr) n.515+6589A>G n.722+6589A>G c.1859T>C (p.Ile620Thr) c.1556T>C (p.Ile519Thr) c.1784T>C (p.Ile595Thr) n.4272T>C n.4928T>C n.5388T>C | dbSNP |
7 | g.148811674A>T | CA369713124 | EZH2 | n.3798T>A c.*960T>A (n.*960T>A) c.*794T>A (n.*794T>A) n.3617T>A n.2789T>A n.2214T>A n.2276T>A c.1898T>A (p.Ile633Asn) c.1766T>A (p.Ile589Asn) c.1883T>A (p.Ile628Asn) n.150T>A c.1730T>A (p.Ile577Asn) c.1856T>A (p.Ile619Asn) c.*1888T>A (n.*1888T>A) c.1907T>A (p.Ile636Asn) c.1880T>A (p.Ile627Asn) c.1754T>A (p.Ile585Asn) c.1922T>A (p.Ile641Asn) c.1895T>A (p.Ile632Asn) c.1874T>A (p.Ile625Asn) c.1871T>A (p.Ile624Asn) c.1832T>A (p.Ile611Asn) c.1805T>A (p.Ile602Asn) c.1799T>A (p.Ile600Asn) c.1796T>A (p.Ile599Asn) c.1790T>A (p.Ile597Asn) c.1781T>A (p.Ile594Asn) c.1778T>A (p.Ile593Asn) c.1664T>A (p.Ile555Asn) c.1571T>A (p.Ile524Asn) n.515+6589A>T n.722+6589A>T c.1859T>A (p.Ile620Asn) c.1556T>A (p.Ile519Asn) c.1784T>A (p.Ile595Asn) n.4272T>A n.4928T>A n.5388T>A | dbSNP |
7 | g.148811675T>A | CA4547766 | EZH2 | n.3797A>T c.*959A>T (n.*959A>T) c.*793A>T (n.*793A>T) n.3616A>T n.2788A>T n.2213A>T n.2275A>T c.1897A>T (p.Ile633Phe) c.1765A>T (p.Ile589Phe) c.1882A>T (p.Ile628Phe) n.149A>T c.1729A>T (p.Ile577Phe) c.1855A>T (p.Ile619Phe) c.*1887A>T (n.*1887A>T) c.1906A>T (p.Ile636Phe) c.1879A>T (p.Ile627Phe) c.1753A>T (p.Ile585Phe) c.1921A>T (p.Ile641Phe) c.1894A>T (p.Ile632Phe) c.1873A>T (p.Ile625Phe) c.1870A>T (p.Ile624Phe) c.1831A>T (p.Ile611Phe) c.1804A>T (p.Ile602Phe) c.1798A>T (p.Ile600Phe) c.1795A>T (p.Ile599Phe) c.1789A>T (p.Ile597Phe) c.1780A>T (p.Ile594Phe) c.1777A>T (p.Ile593Phe) c.1663A>T (p.Ile555Phe) c.1570A>T (p.Ile524Phe) n.515+6590T>A n.722+6590T>A c.1858A>T (p.Ile620Phe) c.1555A>T (p.Ile519Phe) c.1783A>T (p.Ile595Phe) n.4271A>T n.4927A>T n.5387A>T | dbSNP ExAC gnomAD v2 |
7 | g.148811675T>C | CA369713126 | EZH2 | n.3797A>G c.*959A>G (n.*959A>G) c.*793A>G (n.*793A>G) n.3616A>G n.2788A>G n.2213A>G n.2275A>G c.1897A>G (p.Ile633Val) c.1765A>G (p.Ile589Val) c.1882A>G (p.Ile628Val) n.149A>G c.1729A>G (p.Ile577Val) c.1855A>G (p.Ile619Val) c.*1887A>G (n.*1887A>G) c.1906A>G (p.Ile636Val) c.1879A>G (p.Ile627Val) c.1753A>G (p.Ile585Val) c.1921A>G (p.Ile641Val) c.1894A>G (p.Ile632Val) c.1873A>G (p.Ile625Val) c.1870A>G (p.Ile624Val) c.1831A>G (p.Ile611Val) c.1804A>G (p.Ile602Val) c.1798A>G (p.Ile600Val) c.1795A>G (p.Ile599Val) c.1789A>G (p.Ile597Val) c.1780A>G (p.Ile594Val) c.1777A>G (p.Ile593Val) c.1663A>G (p.Ile555Val) c.1570A>G (p.Ile524Val) n.515+6590T>C n.722+6590T>C c.1858A>G (p.Ile620Val) c.1555A>G (p.Ile519Val) c.1783A>G (p.Ile595Val) n.4271A>G n.4927A>G n.5387A>G | |
7 | g.148811675T>G | CA369713127 | EZH2 | n.3797A>C c.*959A>C (n.*959A>C) c.*793A>C (n.*793A>C) n.3616A>C n.2788A>C n.2213A>C n.2275A>C c.1897A>C (p.Ile633Leu) c.1765A>C (p.Ile589Leu) c.1882A>C (p.Ile628Leu) n.149A>C c.1729A>C (p.Ile577Leu) c.1855A>C (p.Ile619Leu) c.*1887A>C (n.*1887A>C) c.1906A>C (p.Ile636Leu) c.1879A>C (p.Ile627Leu) c.1753A>C (p.Ile585Leu) c.1921A>C (p.Ile641Leu) c.1894A>C (p.Ile632Leu) c.1873A>C (p.Ile625Leu) c.1870A>C (p.Ile624Leu) c.1831A>C (p.Ile611Leu) c.1804A>C (p.Ile602Leu) c.1798A>C (p.Ile600Leu) c.1795A>C (p.Ile599Leu) c.1789A>C (p.Ile597Leu) c.1780A>C (p.Ile594Leu) c.1777A>C (p.Ile593Leu) c.1663A>C (p.Ile555Leu) c.1570A>C (p.Ile524Leu) n.515+6590T>G n.722+6590T>G c.1858A>C (p.Ile620Leu) c.1555A>C (p.Ile519Leu) c.1783A>C (p.Ile595Leu) n.4271A>C n.4927A>C n.5387A>C | |
7 | g.148811675T= | CA1751424155 | EZH2 | n.3797A= c.*959A= (n.*959A=) c.*793A= (n.*793A=) n.3616A= n.2788A= n.2213A= n.2275A= c.1897A= (p.Ile633=) c.1765A= (p.Ile589=) c.1882A= (p.Ile628=) n.149A= c.1729A= (p.Ile577=) c.1855A= (p.Ile619=) c.*1887A= (n.*1887A=) c.1906A= (p.Ile636=) c.1879A= (p.Ile627=) c.1753A= (p.Ile585=) c.1921A= (p.Ile641=) c.1894A= (p.Ile632=) c.1873A= (p.Ile625=) c.1870A= (p.Ile624=) c.1831A= (p.Ile611=) c.1804A= (p.Ile602=) c.1798A= (p.Ile600=) c.1795A= (p.Ile599=) c.1789A= (p.Ile597=) c.1780A= (p.Ile594=) c.1777A= (p.Ile593=) c.1663A= (p.Ile555=) c.1570A= (p.Ile524=) n.515+6590T= n.722+6590T= c.1858A= (p.Ile620=) c.1555A= (p.Ile519=) c.1783A= (p.Ile595=) n.4271A= n.4927A= n.5387A= | |
7 | g.148811676A= | CA1751424156 | EZH2 | n.3796T= c.*958T= (n.*958T=) c.*792T= (n.*792T=) n.3615T= n.2787T= n.2212T= n.2274T= c.1896T= (p.Phe632=) c.1764T= (p.Phe588=) c.1881T= (p.Phe627=) n.148T= c.1728T= (p.Phe576=) c.1854T= (p.Phe618=) c.*1886T= (n.*1886T=) c.1905T= (p.Phe635=) c.1878T= (p.Phe626=) c.1752T= (p.Phe584=) c.1920T= (p.Phe640=) c.1893T= (p.Phe631=) c.1872T= (p.Phe624=) c.1869T= (p.Phe623=) c.1830T= (p.Phe610=) c.1803T= (p.Phe601=) c.1797T= (p.Phe599=) c.1794T= (p.Phe598=) c.1788T= (p.Phe596=) c.1779T= (p.Phe593=) c.1776T= (p.Phe592=) c.1662T= (p.Phe554=) c.1569T= (p.Phe523=) n.515+6591A= n.722+6591A= c.1857T= (p.Phe619=) c.1554T= (p.Phe518=) c.1782T= (p.Phe594=) n.4270T= n.4926T= n.5386T= | |
7 | g.148811676A>C | CA369713128 | EZH2 | n.3796T>G c.*958T>G (n.*958T>G) c.*792T>G (n.*792T>G) n.3615T>G n.2787T>G n.2212T>G n.2274T>G c.1896T>G (p.Phe632Leu) c.1764T>G (p.Phe588Leu) c.1881T>G (p.Phe627Leu) n.148T>G c.1728T>G (p.Phe576Leu) c.1854T>G (p.Phe618Leu) c.*1886T>G (n.*1886T>G) c.1905T>G (p.Phe635Leu) c.1878T>G (p.Phe626Leu) c.1752T>G (p.Phe584Leu) c.1920T>G (p.Phe640Leu) c.1893T>G (p.Phe631Leu) c.1872T>G (p.Phe624Leu) c.1869T>G (p.Phe623Leu) c.1830T>G (p.Phe610Leu) c.1803T>G (p.Phe601Leu) c.1797T>G (p.Phe599Leu) c.1794T>G (p.Phe598Leu) c.1788T>G (p.Phe596Leu) c.1779T>G (p.Phe593Leu) c.1776T>G (p.Phe592Leu) c.1662T>G (p.Phe554Leu) c.1569T>G (p.Phe523Leu) n.515+6591A>C n.722+6591A>C c.1857T>G (p.Phe619Leu) c.1554T>G (p.Phe518Leu) c.1782T>G (p.Phe594Leu) n.4270T>G n.4926T>G n.5386T>G | |
7 | g.148811676A>G | CA458345827 | EZH2 | n.3796T>C c.*958T>C (n.*958T>C) c.*792T>C (n.*792T>C) n.3615T>C n.2787T>C n.2212T>C n.2274T>C c.1896T>C (p.Phe632=) c.1764T>C (p.Phe588=) c.1881T>C (p.Phe627=) n.148T>C c.1728T>C (p.Phe576=) c.1854T>C (p.Phe618=) c.*1886T>C (n.*1886T>C) c.1905T>C (p.Phe635=) c.1878T>C (p.Phe626=) c.1752T>C (p.Phe584=) c.1920T>C (p.Phe640=) c.1893T>C (p.Phe631=) c.1872T>C (p.Phe624=) c.1869T>C (p.Phe623=) c.1830T>C (p.Phe610=) c.1803T>C (p.Phe601=) c.1797T>C (p.Phe599=) c.1794T>C (p.Phe598=) c.1788T>C (p.Phe596=) c.1779T>C (p.Phe593=) c.1776T>C (p.Phe592=) c.1662T>C (p.Phe554=) c.1569T>C (p.Phe523=) n.515+6591A>G n.722+6591A>G c.1857T>C (p.Phe619=) c.1554T>C (p.Phe518=) c.1782T>C (p.Phe594=) n.4270T>C n.4926T>C n.5386T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.148811676A>T | CA369713129 | EZH2 | n.3796T>A c.*958T>A (n.*958T>A) c.*792T>A (n.*792T>A) n.3615T>A n.2787T>A n.2212T>A n.2274T>A c.1896T>A (p.Phe632Leu) c.1764T>A (p.Phe588Leu) c.1881T>A (p.Phe627Leu) n.148T>A c.1728T>A (p.Phe576Leu) c.1854T>A (p.Phe618Leu) c.*1886T>A (n.*1886T>A) c.1905T>A (p.Phe635Leu) c.1878T>A (p.Phe626Leu) c.1752T>A (p.Phe584Leu) c.1920T>A (p.Phe640Leu) c.1893T>A (p.Phe631Leu) c.1872T>A (p.Phe624Leu) c.1869T>A (p.Phe623Leu) c.1830T>A (p.Phe610Leu) c.1803T>A (p.Phe601Leu) c.1797T>A (p.Phe599Leu) c.1794T>A (p.Phe598Leu) c.1788T>A (p.Phe596Leu) c.1779T>A (p.Phe593Leu) c.1776T>A (p.Phe592Leu) c.1662T>A (p.Phe554Leu) c.1569T>A (p.Phe523Leu) n.515+6591A>T n.722+6591A>T c.1857T>A (p.Phe619Leu) c.1554T>A (p.Phe518Leu) c.1782T>A (p.Phe594Leu) n.4270T>A n.4926T>A n.5386T>A | |
7 | g.148811677A>C | CA369713130 | EZH2 | n.3795T>G c.*957T>G (n.*957T>G) c.*791T>G (n.*791T>G) n.3614T>G n.2786T>G n.2211T>G n.2273T>G c.1895T>G (p.Phe632Cys) c.1763T>G (p.Phe588Cys) c.1880T>G (p.Phe627Cys) n.147T>G c.1727T>G (p.Phe576Cys) c.1853T>G (p.Phe618Cys) c.*1885T>G (n.*1885T>G) c.1904T>G (p.Phe635Cys) c.1877T>G (p.Phe626Cys) c.1751T>G (p.Phe584Cys) c.1919T>G (p.Phe640Cys) c.1892T>G (p.Phe631Cys) c.1871T>G (p.Phe624Cys) c.1868T>G (p.Phe623Cys) c.1829T>G (p.Phe610Cys) c.1802T>G (p.Phe601Cys) c.1796T>G (p.Phe599Cys) c.1793T>G (p.Phe598Cys) c.1787T>G (p.Phe596Cys) c.1778T>G (p.Phe593Cys) c.1775T>G (p.Phe592Cys) c.1661T>G (p.Phe554Cys) c.1568T>G (p.Phe523Cys) n.515+6592A>C n.722+6592A>C c.1856T>G (p.Phe619Cys) c.1553T>G (p.Phe518Cys) c.1781T>G (p.Phe594Cys) n.4269T>G n.4925T>G n.5385T>G | |
7 | g.148811677A>G | CA369713131 | EZH2 | n.3795T>C c.*957T>C (n.*957T>C) c.*791T>C (n.*791T>C) n.3614T>C n.2786T>C n.2211T>C n.2273T>C c.1895T>C (p.Phe632Ser) c.1763T>C (p.Phe588Ser) c.1880T>C (p.Phe627Ser) n.147T>C c.1727T>C (p.Phe576Ser) c.1853T>C (p.Phe618Ser) c.*1885T>C (n.*1885T>C) c.1904T>C (p.Phe635Ser) c.1877T>C (p.Phe626Ser) c.1751T>C (p.Phe584Ser) c.1919T>C (p.Phe640Ser) c.1892T>C (p.Phe631Ser) c.1871T>C (p.Phe624Ser) c.1868T>C (p.Phe623Ser) c.1829T>C (p.Phe610Ser) c.1802T>C (p.Phe601Ser) c.1796T>C (p.Phe599Ser) c.1793T>C (p.Phe598Ser) c.1787T>C (p.Phe596Ser) c.1778T>C (p.Phe593Ser) c.1775T>C (p.Phe592Ser) c.1661T>C (p.Phe554Ser) c.1568T>C (p.Phe523Ser) n.515+6592A>G n.722+6592A>G c.1856T>C (p.Phe619Ser) c.1553T>C (p.Phe518Ser) c.1781T>C (p.Phe594Ser) n.4269T>C n.4925T>C n.5385T>C | |
7 | g.148811677A>T | CA369713132 | EZH2 | n.3795T>A c.*957T>A (n.*957T>A) c.*791T>A (n.*791T>A) n.3614T>A n.2786T>A n.2211T>A n.2273T>A c.1895T>A (p.Phe632Tyr) c.1763T>A (p.Phe588Tyr) c.1880T>A (p.Phe627Tyr) n.147T>A c.1727T>A (p.Phe576Tyr) c.1853T>A (p.Phe618Tyr) c.*1885T>A (n.*1885T>A) c.1904T>A (p.Phe635Tyr) c.1877T>A (p.Phe626Tyr) c.1751T>A (p.Phe584Tyr) c.1919T>A (p.Phe640Tyr) c.1892T>A (p.Phe631Tyr) c.1871T>A (p.Phe624Tyr) c.1868T>A (p.Phe623Tyr) c.1829T>A (p.Phe610Tyr) c.1802T>A (p.Phe601Tyr) c.1796T>A (p.Phe599Tyr) c.1793T>A (p.Phe598Tyr) c.1787T>A (p.Phe596Tyr) c.1778T>A (p.Phe593Tyr) c.1775T>A (p.Phe592Tyr) c.1661T>A (p.Phe554Tyr) c.1568T>A (p.Phe523Tyr) n.515+6592A>T n.722+6592A>T c.1856T>A (p.Phe619Tyr) c.1553T>A (p.Phe518Tyr) c.1781T>A (p.Phe594Tyr) n.4269T>A n.4925T>A n.5385T>A | dbSNP |
7 | g.148811678A>C | CA369713133 | EZH2 | n.3794T>G c.*956T>G (n.*956T>G) c.*790T>G (n.*790T>G) n.3613T>G n.2785T>G n.2210T>G n.2272T>G c.1894T>G (p.Phe632Val) c.1762T>G (p.Phe588Val) c.1879T>G (p.Phe627Val) n.146T>G c.1726T>G (p.Phe576Val) c.1852T>G (p.Phe618Val) c.*1884T>G (n.*1884T>G) c.1903T>G (p.Phe635Val) c.1876T>G (p.Phe626Val) c.1750T>G (p.Phe584Val) c.1918T>G (p.Phe640Val) c.1891T>G (p.Phe631Val) c.1870T>G (p.Phe624Val) c.1867T>G (p.Phe623Val) c.1828T>G (p.Phe610Val) c.1801T>G (p.Phe601Val) c.1795T>G (p.Phe599Val) c.1792T>G (p.Phe598Val) c.1786T>G (p.Phe596Val) c.1777T>G (p.Phe593Val) c.1774T>G (p.Phe592Val) c.1660T>G (p.Phe554Val) c.1567T>G (p.Phe523Val) n.515+6593A>C n.722+6593A>C c.1855T>G (p.Phe619Val) c.1552T>G (p.Phe518Val) c.1780T>G (p.Phe594Val) n.4268T>G n.4924T>G n.5384T>G | |
7 | g.148811678A>G | CA369713134 | EZH2 | n.3794T>C c.*956T>C (n.*956T>C) c.*790T>C (n.*790T>C) n.3613T>C n.2785T>C n.2210T>C n.2272T>C c.1894T>C (p.Phe632Leu) c.1762T>C (p.Phe588Leu) c.1879T>C (p.Phe627Leu) n.146T>C c.1726T>C (p.Phe576Leu) c.1852T>C (p.Phe618Leu) c.*1884T>C (n.*1884T>C) c.1903T>C (p.Phe635Leu) c.1876T>C (p.Phe626Leu) c.1750T>C (p.Phe584Leu) c.1918T>C (p.Phe640Leu) c.1891T>C (p.Phe631Leu) c.1870T>C (p.Phe624Leu) c.1867T>C (p.Phe623Leu) c.1828T>C (p.Phe610Leu) c.1801T>C (p.Phe601Leu) c.1795T>C (p.Phe599Leu) c.1792T>C (p.Phe598Leu) c.1786T>C (p.Phe596Leu) c.1777T>C (p.Phe593Leu) c.1774T>C (p.Phe592Leu) c.1660T>C (p.Phe554Leu) c.1567T>C (p.Phe523Leu) n.515+6593A>G n.722+6593A>G c.1855T>C (p.Phe619Leu) c.1552T>C (p.Phe518Leu) c.1780T>C (p.Phe594Leu) n.4268T>C n.4924T>C n.5384T>C | |
7 | g.148811678A>T | CA369713135 | EZH2 | n.3794T>A c.*956T>A (n.*956T>A) c.*790T>A (n.*790T>A) n.3613T>A n.2785T>A n.2210T>A n.2272T>A c.1894T>A (p.Phe632Ile) c.1762T>A (p.Phe588Ile) c.1879T>A (p.Phe627Ile) n.146T>A c.1726T>A (p.Phe576Ile) c.1852T>A (p.Phe618Ile) c.*1884T>A (n.*1884T>A) c.1903T>A (p.Phe635Ile) c.1876T>A (p.Phe626Ile) c.1750T>A (p.Phe584Ile) c.1918T>A (p.Phe640Ile) c.1891T>A (p.Phe631Ile) c.1870T>A (p.Phe624Ile) c.1867T>A (p.Phe623Ile) c.1828T>A (p.Phe610Ile) c.1801T>A (p.Phe601Ile) c.1795T>A (p.Phe599Ile) c.1792T>A (p.Phe598Ile) c.1786T>A (p.Phe596Ile) c.1777T>A (p.Phe593Ile) c.1774T>A (p.Phe592Ile) c.1660T>A (p.Phe554Ile) c.1567T>A (p.Phe523Ile) n.515+6593A>T n.722+6593A>T c.1855T>A (p.Phe619Ile) c.1552T>A (p.Phe518Ile) c.1780T>A (p.Phe594Ile) n.4268T>A n.4924T>A n.5384T>A | |
7 | g.148811679A>C | CA369713136 | EZH2 | n.3793T>G c.*955T>G (n.*955T>G) c.*789T>G (n.*789T>G) n.3612T>G n.2784T>G n.2209T>G n.2271T>G c.1893T>G (p.Ile631Met) c.1761T>G (p.Ile587Met) c.1878T>G (p.Ile626Met) n.145T>G c.1725T>G (p.Ile575Met) c.1851T>G (p.Ile617Met) c.*1883T>G (n.*1883T>G) c.1902T>G (p.Ile634Met) c.1875T>G (p.Ile625Met) c.1749T>G (p.Ile583Met) c.1917T>G (p.Ile639Met) c.1890T>G (p.Ile630Met) c.1869T>G (p.Ile623Met) c.1866T>G (p.Ile622Met) c.1827T>G (p.Ile609Met) c.1800T>G (p.Ile600Met) c.1794T>G (p.Ile598Met) c.1791T>G (p.Ile597Met) c.1785T>G (p.Ile595Met) c.1776T>G (p.Ile592Met) c.1773T>G (p.Ile591Met) c.1659T>G (p.Ile553Met) c.1566T>G (p.Ile522Met) n.515+6594A>C n.722+6594A>C c.1854T>G (p.Ile618Met) c.1551T>G (p.Ile517Met) c.1779T>G (p.Ile593Met) n.4267T>G n.4923T>G n.5383T>G | |
7 | g.148811679A>G | CA458345830 | EZH2 | n.3793T>C c.*955T>C (n.*955T>C) c.*789T>C (n.*789T>C) n.3612T>C n.2784T>C n.2209T>C n.2271T>C c.1893T>C (p.Ile631=) c.1761T>C (p.Ile587=) c.1878T>C (p.Ile626=) n.145T>C c.1725T>C (p.Ile575=) c.1851T>C (p.Ile617=) c.*1883T>C (n.*1883T>C) c.1902T>C (p.Ile634=) c.1875T>C (p.Ile625=) c.1749T>C (p.Ile583=) c.1917T>C (p.Ile639=) c.1890T>C (p.Ile630=) c.1869T>C (p.Ile623=) c.1866T>C (p.Ile622=) c.1827T>C (p.Ile609=) c.1800T>C (p.Ile600=) c.1794T>C (p.Ile598=) c.1791T>C (p.Ile597=) c.1785T>C (p.Ile595=) c.1776T>C (p.Ile592=) c.1773T>C (p.Ile591=) c.1659T>C (p.Ile553=) c.1566T>C (p.Ile522=) n.515+6594A>G n.722+6594A>G c.1854T>C (p.Ile618=) c.1551T>C (p.Ile517=) c.1779T>C (p.Ile593=) n.4267T>C n.4923T>C n.5383T>C | dbSNP |
7 | g.148811679A>T | CA458345829 | EZH2 | n.3793T>A c.*955T>A (n.*955T>A) c.*789T>A (n.*789T>A) n.3612T>A n.2784T>A n.2209T>A n.2271T>A c.1893T>A (p.Ile631=) c.1761T>A (p.Ile587=) c.1878T>A (p.Ile626=) n.145T>A c.1725T>A (p.Ile575=) c.1851T>A (p.Ile617=) c.*1883T>A (n.*1883T>A) c.1902T>A (p.Ile634=) c.1875T>A (p.Ile625=) c.1749T>A (p.Ile583=) c.1917T>A (p.Ile639=) c.1890T>A (p.Ile630=) c.1869T>A (p.Ile623=) c.1866T>A (p.Ile622=) c.1827T>A (p.Ile609=) c.1800T>A (p.Ile600=) c.1794T>A (p.Ile598=) c.1791T>A (p.Ile597=) c.1785T>A (p.Ile595=) c.1776T>A (p.Ile592=) c.1773T>A (p.Ile591=) c.1659T>A (p.Ile553=) c.1566T>A (p.Ile522=) n.515+6594A>T n.722+6594A>T c.1854T>A (p.Ile618=) c.1551T>A (p.Ile517=) c.1779T>A (p.Ile593=) n.4267T>A n.4923T>A n.5383T>A | dbSNP |
7 | g.148811680A>C | CA369713138 | EZH2 | n.3792T>G c.*954T>G (n.*954T>G) c.*788T>G (n.*788T>G) n.3611T>G n.2783T>G n.2208T>G n.2270T>G c.1892T>G (p.Ile631Ser) c.1760T>G (p.Ile587Ser) c.1877T>G (p.Ile626Ser) n.144T>G c.1724T>G (p.Ile575Ser) c.1850T>G (p.Ile617Ser) c.*1882T>G (n.*1882T>G) c.1901T>G (p.Ile634Ser) c.1874T>G (p.Ile625Ser) c.1748T>G (p.Ile583Ser) c.1916T>G (p.Ile639Ser) c.1889T>G (p.Ile630Ser) c.1868T>G (p.Ile623Ser) c.1865T>G (p.Ile622Ser) c.1826T>G (p.Ile609Ser) c.1799T>G (p.Ile600Ser) c.1793T>G (p.Ile598Ser) c.1790T>G (p.Ile597Ser) c.1784T>G (p.Ile595Ser) c.1775T>G (p.Ile592Ser) c.1772T>G (p.Ile591Ser) c.1658T>G (p.Ile553Ser) c.1565T>G (p.Ile522Ser) n.515+6595A>C n.722+6595A>C c.1853T>G (p.Ile618Ser) c.1550T>G (p.Ile517Ser) c.1778T>G (p.Ile593Ser) n.4266T>G n.4922T>G n.5382T>G | dbSNP |
7 | g.148811680A>G | CA369713139 | EZH2 | n.3792T>C c.*954T>C (n.*954T>C) c.*788T>C (n.*788T>C) n.3611T>C n.2783T>C n.2208T>C n.2270T>C c.1892T>C (p.Ile631Thr) c.1760T>C (p.Ile587Thr) c.1877T>C (p.Ile626Thr) n.144T>C c.1724T>C (p.Ile575Thr) c.1850T>C (p.Ile617Thr) c.*1882T>C (n.*1882T>C) c.1901T>C (p.Ile634Thr) c.1874T>C (p.Ile625Thr) c.1748T>C (p.Ile583Thr) c.1916T>C (p.Ile639Thr) c.1889T>C (p.Ile630Thr) c.1868T>C (p.Ile623Thr) c.1865T>C (p.Ile622Thr) c.1826T>C (p.Ile609Thr) c.1799T>C (p.Ile600Thr) c.1793T>C (p.Ile598Thr) c.1790T>C (p.Ile597Thr) c.1784T>C (p.Ile595Thr) c.1775T>C (p.Ile592Thr) c.1772T>C (p.Ile591Thr) c.1658T>C (p.Ile553Thr) c.1565T>C (p.Ile522Thr) n.515+6595A>G n.722+6595A>G c.1853T>C (p.Ile618Thr) c.1550T>C (p.Ile517Thr) c.1778T>C (p.Ile593Thr) n.4266T>C n.4922T>C n.5382T>C | dbSNP |
7 | g.148811680A>T | CA369713137 | EZH2 | n.3792T>A c.*954T>A (n.*954T>A) c.*788T>A (n.*788T>A) n.3611T>A n.2783T>A n.2208T>A n.2270T>A c.1892T>A (p.Ile631Asn) c.1760T>A (p.Ile587Asn) c.1877T>A (p.Ile626Asn) n.144T>A c.1724T>A (p.Ile575Asn) c.1850T>A (p.Ile617Asn) c.*1882T>A (n.*1882T>A) c.1901T>A (p.Ile634Asn) c.1874T>A (p.Ile625Asn) c.1748T>A (p.Ile583Asn) c.1916T>A (p.Ile639Asn) c.1889T>A (p.Ile630Asn) c.1868T>A (p.Ile623Asn) c.1865T>A (p.Ile622Asn) c.1826T>A (p.Ile609Asn) c.1799T>A (p.Ile600Asn) c.1793T>A (p.Ile598Asn) c.1790T>A (p.Ile597Asn) c.1784T>A (p.Ile595Asn) c.1775T>A (p.Ile592Asn) c.1772T>A (p.Ile591Asn) c.1658T>A (p.Ile553Asn) c.1565T>A (p.Ile522Asn) n.515+6595A>T n.722+6595A>T c.1853T>A (p.Ile618Asn) c.1550T>A (p.Ile517Asn) c.1778T>A (p.Ile593Asn) n.4266T>A n.4922T>A n.5382T>A | |
7 | g.148811681del | CA2580617727 | EZH2 | n.3791del c.*953del (n.*953del) c.*787del (n.*787del) n.3610del n.2782del n.2207del n.2269del c.1891del (p.Ile631PhefsTer?) c.1759del (p.Ile587PhefsTer?) c.1876del (p.Ile626PhefsTer?) n.143del c.1723del (p.Ile575PhefsTer?) c.1849del (p.Ile617PhefsTer?) c.*1881del (n.*1881del) c.1900del (p.Ile634PhefsTer?) c.1873del (p.Ile625PhefsTer?) c.1747del (p.Ile583PhefsTer?) c.1915del (p.Ile639PhefsTer?) c.1888del (p.Ile630PhefsTer?) c.1867del (p.Ile623PhefsTer?) c.1864del (p.Ile622PhefsTer?) c.1825del (p.Ile609PhefsTer?) c.1798del (p.Ile600PhefsTer?) c.1792del (p.Ile598PhefsTer?) c.1789del (p.Ile597PhefsTer?) c.1783del (p.Ile595PhefsTer?) c.1774del (p.Ile592PhefsTer?) c.1771del (p.Ile591PhefsTer?) c.1657del (p.Ile553PhefsTer?) c.1564del (p.Ile522PhefsTer?) n.515+6596del n.722+6596del c.1852del (p.Ile618PhefsTer?) c.1549del (p.Ile517PhefsTer?) c.1777del (p.Ile593PhefsTer?) n.4265del n.4921del n.5381del | ClinVar |
7 | g.148811681T>A | CA369713141 | EZH2 | n.3791A>T c.*953A>T (n.*953A>T) c.*787A>T (n.*787A>T) n.3610A>T n.2782A>T n.2207A>T n.2269A>T c.1891A>T (p.Ile631Phe) c.1759A>T (p.Ile587Phe) c.1876A>T (p.Ile626Phe) n.143A>T c.1723A>T (p.Ile575Phe) c.1849A>T (p.Ile617Phe) c.*1881A>T (n.*1881A>T) c.1900A>T (p.Ile634Phe) c.1873A>T (p.Ile625Phe) c.1747A>T (p.Ile583Phe) c.1915A>T (p.Ile639Phe) c.1888A>T (p.Ile630Phe) c.1867A>T (p.Ile623Phe) c.1864A>T (p.Ile622Phe) c.1825A>T (p.Ile609Phe) c.1798A>T (p.Ile600Phe) c.1792A>T (p.Ile598Phe) c.1789A>T (p.Ile597Phe) c.1783A>T (p.Ile595Phe) c.1774A>T (p.Ile592Phe) c.1771A>T (p.Ile591Phe) c.1657A>T (p.Ile553Phe) c.1564A>T (p.Ile522Phe) n.515+6596T>A n.722+6596T>A c.1852A>T (p.Ile618Phe) c.1549A>T (p.Ile517Phe) c.1777A>T (p.Ile593Phe) n.4265A>T n.4921A>T n.5381A>T | |
7 | g.148811681T>C | CA4547767 | EZH2 | n.3791A>G c.*953A>G (n.*953A>G) c.*787A>G (n.*787A>G) n.3610A>G n.2782A>G n.2207A>G n.2269A>G c.1891A>G (p.Ile631Val) c.1759A>G (p.Ile587Val) c.1876A>G (p.Ile626Val) n.143A>G c.1723A>G (p.Ile575Val) c.1849A>G (p.Ile617Val) c.*1881A>G (n.*1881A>G) c.1900A>G (p.Ile634Val) c.1873A>G (p.Ile625Val) c.1747A>G (p.Ile583Val) c.1915A>G (p.Ile639Val) c.1888A>G (p.Ile630Val) c.1867A>G (p.Ile623Val) c.1864A>G (p.Ile622Val) c.1825A>G (p.Ile609Val) c.1798A>G (p.Ile600Val) c.1792A>G (p.Ile598Val) c.1789A>G (p.Ile597Val) c.1783A>G (p.Ile595Val) c.1774A>G (p.Ile592Val) c.1771A>G (p.Ile591Val) c.1657A>G (p.Ile553Val) c.1564A>G (p.Ile522Val) n.515+6596T>C n.722+6596T>C c.1852A>G (p.Ile618Val) c.1549A>G (p.Ile517Val) c.1777A>G (p.Ile593Val) n.4265A>G n.4921A>G n.5381A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.148811681T>G | CA369713140 | EZH2 | n.3791A>C c.*953A>C (n.*953A>C) c.*787A>C (n.*787A>C) n.3610A>C n.2782A>C n.2207A>C n.2269A>C c.1891A>C (p.Ile631Leu) c.1759A>C (p.Ile587Leu) c.1876A>C (p.Ile626Leu) n.143A>C c.1723A>C (p.Ile575Leu) c.1849A>C (p.Ile617Leu) c.*1881A>C (n.*1881A>C) c.1900A>C (p.Ile634Leu) c.1873A>C (p.Ile625Leu) c.1747A>C (p.Ile583Leu) c.1915A>C (p.Ile639Leu) c.1888A>C (p.Ile630Leu) c.1867A>C (p.Ile623Leu) c.1864A>C (p.Ile622Leu) c.1825A>C (p.Ile609Leu) c.1798A>C (p.Ile600Leu) c.1792A>C (p.Ile598Leu) c.1789A>C (p.Ile597Leu) c.1783A>C (p.Ile595Leu) c.1774A>C (p.Ile592Leu) c.1771A>C (p.Ile591Leu) c.1657A>C (p.Ile553Leu) c.1564A>C (p.Ile522Leu) n.515+6596T>G n.722+6596T>G c.1852A>C (p.Ile618Leu) c.1549A>C (p.Ile517Leu) c.1777A>C (p.Ile593Leu) n.4265A>C n.4921A>C n.5381A>C | |
7 | g.148811681T= | CA1751424157 | EZH2 | n.3791A= c.*953A= (n.*953A=) c.*787A= (n.*787A=) n.3610A= n.2782A= n.2207A= n.2269A= c.1891A= (p.Ile631=) c.1759A= (p.Ile587=) c.1876A= (p.Ile626=) n.143A= c.1723A= (p.Ile575=) c.1849A= (p.Ile617=) c.*1881A= (n.*1881A=) c.1900A= (p.Ile634=) c.1873A= (p.Ile625=) c.1747A= (p.Ile583=) c.1915A= (p.Ile639=) c.1888A= (p.Ile630=) c.1867A= (p.Ile623=) c.1864A= (p.Ile622=) c.1825A= (p.Ile609=) c.1798A= (p.Ile600=) c.1792A= (p.Ile598=) c.1789A= (p.Ile597=) c.1783A= (p.Ile595=) c.1774A= (p.Ile592=) c.1771A= (p.Ile591=) c.1657A= (p.Ile553=) c.1564A= (p.Ile522=) n.515+6596T= n.722+6596T= c.1852A= (p.Ile618=) c.1549A= (p.Ile517=) c.1777A= (p.Ile593=) n.4265A= n.4921A= n.5381A= | |
7 | g.148811682C>A | CA458345835 | EZH2 | n.3790G>T c.*952G>T (n.*952G>T) c.*786G>T (n.*786G>T) n.3609G>T n.2781G>T n.2206G>T n.2268G>T c.1890G>T (p.Gly630=) c.1758G>T (p.Gly586=) c.1875G>T (p.Gly625=) n.142G>T c.1722G>T (p.Gly574=) c.1848G>T (p.Gly616=) c.*1880G>T (n.*1880G>T) c.1899G>T (p.Gly633=) c.1872G>T (p.Gly624=) c.1746G>T (p.Gly582=) c.1914G>T (p.Gly638=) c.1887G>T (p.Gly629=) c.1866G>T (p.Gly622=) c.1863G>T (p.Gly621=) c.1824G>T (p.Gly608=) c.1797G>T (p.Gly599=) c.1791G>T (p.Gly597=) c.1788G>T (p.Gly596=) c.1782G>T (p.Gly594=) c.1773G>T (p.Gly591=) c.1770G>T (p.Gly590=) c.1656G>T (p.Gly552=) c.1563G>T (p.Gly521=) n.515+6597C>A n.722+6597C>A c.1851G>T (p.Gly617=) c.1548G>T (p.Gly516=) c.1776G>T (p.Gly592=) n.4264G>T n.4920G>T n.5380G>T | gnomAD v4 |
7 | g.148811682C= | CA1751424158 | EZH2 | n.3790G= c.*952G= (n.*952G=) c.*786G= (n.*786G=) n.3609G= n.2781G= n.2206G= n.2268G= c.1890G= (p.Gly630=) c.1758G= (p.Gly586=) c.1875G= (p.Gly625=) n.142G= c.1722G= (p.Gly574=) c.1848G= (p.Gly616=) c.*1880G= (n.*1880G=) c.1899G= (p.Gly633=) c.1872G= (p.Gly624=) c.1746G= (p.Gly582=) c.1914G= (p.Gly638=) c.1887G= (p.Gly629=) c.1866G= (p.Gly622=) c.1863G= (p.Gly621=) c.1824G= (p.Gly608=) c.1797G= (p.Gly599=) c.1791G= (p.Gly597=) c.1788G= (p.Gly596=) c.1782G= (p.Gly594=) c.1773G= (p.Gly591=) c.1770G= (p.Gly590=) c.1656G= (p.Gly552=) c.1563G= (p.Gly521=) n.515+6597C= n.722+6597C= c.1851G= (p.Gly617=) c.1548G= (p.Gly516=) c.1776G= (p.Gly592=) n.4264G= n.4920G= n.5380G= | |
7 | g.148811682C>G | CA458345834 | EZH2 | n.3790G>C c.*952G>C (n.*952G>C) c.*786G>C (n.*786G>C) n.3609G>C n.2781G>C n.2206G>C n.2268G>C c.1890G>C (p.Gly630=) c.1758G>C (p.Gly586=) c.1875G>C (p.Gly625=) n.142G>C c.1722G>C (p.Gly574=) c.1848G>C (p.Gly616=) c.*1880G>C (n.*1880G>C) c.1899G>C (p.Gly633=) c.1872G>C (p.Gly624=) c.1746G>C (p.Gly582=) c.1914G>C (p.Gly638=) c.1887G>C (p.Gly629=) c.1866G>C (p.Gly622=) c.1863G>C (p.Gly621=) c.1824G>C (p.Gly608=) c.1797G>C (p.Gly599=) c.1791G>C (p.Gly597=) c.1788G>C (p.Gly596=) c.1782G>C (p.Gly594=) c.1773G>C (p.Gly591=) c.1770G>C (p.Gly590=) c.1656G>C (p.Gly552=) c.1563G>C (p.Gly521=) n.515+6597C>G n.722+6597C>G c.1851G>C (p.Gly617=) c.1548G>C (p.Gly516=) c.1776G>C (p.Gly592=) n.4264G>C n.4920G>C n.5380G>C | dbSNP |
7 | g.148811682C>T | CA4547768 | EZH2 | n.3790G>A c.*952G>A (n.*952G>A) c.*786G>A (n.*786G>A) n.3609G>A n.2781G>A n.2206G>A n.2268G>A c.1890G>A (p.Gly630=) c.1758G>A (p.Gly586=) c.1875G>A (p.Gly625=) n.142G>A c.1722G>A (p.Gly574=) c.1848G>A (p.Gly616=) c.*1880G>A (n.*1880G>A) c.1899G>A (p.Gly633=) c.1872G>A (p.Gly624=) c.1746G>A (p.Gly582=) c.1914G>A (p.Gly638=) c.1887G>A (p.Gly629=) c.1866G>A (p.Gly622=) c.1863G>A (p.Gly621=) c.1824G>A (p.Gly608=) c.1797G>A (p.Gly599=) c.1791G>A (p.Gly597=) c.1788G>A (p.Gly596=) c.1782G>A (p.Gly594=) c.1773G>A (p.Gly591=) c.1770G>A (p.Gly590=) c.1656G>A (p.Gly552=) c.1563G>A (p.Gly521=) n.515+6597C>T n.722+6597C>T c.1851G>A (p.Gly617=) c.1548G>A (p.Gly516=) c.1776G>A (p.Gly592=) n.4264G>A n.4920G>A n.5380G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.148811686del | CA2685465192 | EZH2 | n.3790del c.*952del (n.*952del) c.*786del (n.*786del) n.3609del n.2781del n.2206del n.2268del c.1890del (p.Ile631PhefsTer?) c.1758del (p.Ile587PhefsTer?) c.1875del (p.Ile626PhefsTer?) n.142del c.1722del (p.Ile575PhefsTer?) c.1848del (p.Ile617PhefsTer?) c.*1880del (n.*1880del) c.1899del (p.Ile634PhefsTer?) c.1872del (p.Ile625PhefsTer?) c.1746del (p.Ile583PhefsTer?) c.1914del (p.Ile639PhefsTer?) c.1887del (p.Ile630PhefsTer?) c.1866del (p.Ile623PhefsTer?) c.1863del (p.Ile622PhefsTer?) c.1824del (p.Ile609PhefsTer?) c.1797del (p.Ile600PhefsTer?) c.1791del (p.Ile598PhefsTer?) c.1788del (p.Ile597PhefsTer?) c.1782del (p.Ile595PhefsTer?) c.1773del (p.Ile592PhefsTer?) c.1770del (p.Ile591PhefsTer?) c.1656del (p.Ile553PhefsTer?) c.1563del (p.Ile522PhefsTer?) n.515+6601del n.722+6601del c.1851del (p.Ile618PhefsTer?) c.1548del (p.Ile517PhefsTer?) c.1776del (p.Ile593PhefsTer?) n.4264del n.4920del n.5380del | gnomAD v4 |
7 | g.148811683C>A | CA369713142 | EZH2 | n.3789G>T c.*951G>T (n.*951G>T) c.*785G>T (n.*785G>T) n.3608G>T n.2780G>T n.2205G>T n.2267G>T c.1889G>T (p.Gly630Val) c.1757G>T (p.Gly586Val) c.1874G>T (p.Gly625Val) n.141G>T c.1721G>T (p.Gly574Val) c.1847G>T (p.Gly616Val) c.*1879G>T (n.*1879G>T) c.1898G>T (p.Gly633Val) c.1871G>T (p.Gly624Val) c.1745G>T (p.Gly582Val) c.1913G>T (p.Gly638Val) c.1886G>T (p.Gly629Val) c.1865G>T (p.Gly622Val) c.1862G>T (p.Gly621Val) c.1823G>T (p.Gly608Val) c.1796G>T (p.Gly599Val) c.1790G>T (p.Gly597Val) c.1787G>T (p.Gly596Val) c.1781G>T (p.Gly594Val) c.1772G>T (p.Gly591Val) c.1769G>T (p.Gly590Val) c.1655G>T (p.Gly552Val) c.1562G>T (p.Gly521Val) n.515+6598C>A n.722+6598C>A c.1850G>T (p.Gly617Val) c.1547G>T (p.Gly516Val) c.1775G>T (p.Gly592Val) n.4263G>T n.4919G>T n.5379G>T | |
7 | g.148811683C>G | CA369713143 | EZH2 | n.3789G>C c.*951G>C (n.*951G>C) c.*785G>C (n.*785G>C) n.3608G>C n.2780G>C n.2205G>C n.2267G>C c.1889G>C (p.Gly630Ala) c.1757G>C (p.Gly586Ala) c.1874G>C (p.Gly625Ala) n.141G>C c.1721G>C (p.Gly574Ala) c.1847G>C (p.Gly616Ala) c.*1879G>C (n.*1879G>C) c.1898G>C (p.Gly633Ala) c.1871G>C (p.Gly624Ala) c.1745G>C (p.Gly582Ala) c.1913G>C (p.Gly638Ala) c.1886G>C (p.Gly629Ala) c.1865G>C (p.Gly622Ala) c.1862G>C (p.Gly621Ala) c.1823G>C (p.Gly608Ala) c.1796G>C (p.Gly599Ala) c.1790G>C (p.Gly597Ala) c.1787G>C (p.Gly596Ala) c.1781G>C (p.Gly594Ala) c.1772G>C (p.Gly591Ala) c.1769G>C (p.Gly590Ala) c.1655G>C (p.Gly552Ala) c.1562G>C (p.Gly521Ala) n.515+6598C>G n.722+6598C>G c.1850G>C (p.Gly617Ala) c.1547G>C (p.Gly516Ala) c.1775G>C (p.Gly592Ala) n.4263G>C n.4919G>C n.5379G>C | |
7 | g.148811683C>T | CA369713144 | EZH2 | n.3789G>A c.*951G>A (n.*951G>A) c.*785G>A (n.*785G>A) n.3608G>A n.2780G>A n.2205G>A n.2267G>A c.1889G>A (p.Gly630Glu) c.1757G>A (p.Gly586Glu) c.1874G>A (p.Gly625Glu) n.141G>A c.1721G>A (p.Gly574Glu) c.1847G>A (p.Gly616Glu) c.*1879G>A (n.*1879G>A) c.1898G>A (p.Gly633Glu) c.1871G>A (p.Gly624Glu) c.1745G>A (p.Gly582Glu) c.1913G>A (p.Gly638Glu) c.1886G>A (p.Gly629Glu) c.1865G>A (p.Gly622Glu) c.1862G>A (p.Gly621Glu) c.1823G>A (p.Gly608Glu) c.1796G>A (p.Gly599Glu) c.1790G>A (p.Gly597Glu) c.1787G>A (p.Gly596Glu) c.1781G>A (p.Gly594Glu) c.1772G>A (p.Gly591Glu) c.1769G>A (p.Gly590Glu) c.1655G>A (p.Gly552Glu) c.1562G>A (p.Gly521Glu) n.515+6598C>T n.722+6598C>T c.1850G>A (p.Gly617Glu) c.1547G>A (p.Gly516Glu) c.1775G>A (p.Gly592Glu) n.4263G>A n.4919G>A n.5379G>A | |
7 | g.148811684C>A | CA369713145 | EZH2 | n.3788G>T c.*950G>T (n.*950G>T) c.*784G>T (n.*784G>T) n.3607G>T n.2779G>T n.2204G>T n.2266G>T c.1888G>T (p.Gly630Trp) c.1756G>T (p.Gly586Trp) c.1873G>T (p.Gly625Trp) n.140G>T c.1720G>T (p.Gly574Trp) c.1846G>T (p.Gly616Trp) c.*1878G>T (n.*1878G>T) c.1897G>T (p.Gly633Trp) c.1870G>T (p.Gly624Trp) c.1744G>T (p.Gly582Trp) c.1912G>T (p.Gly638Trp) c.1885G>T (p.Gly629Trp) c.1864G>T (p.Gly622Trp) c.1861G>T (p.Gly621Trp) c.1822G>T (p.Gly608Trp) c.1795G>T (p.Gly599Trp) c.1789G>T (p.Gly597Trp) c.1786G>T (p.Gly596Trp) c.1780G>T (p.Gly594Trp) c.1771G>T (p.Gly591Trp) c.1768G>T (p.Gly590Trp) c.1654G>T (p.Gly552Trp) c.1561G>T (p.Gly521Trp) n.515+6599C>A n.722+6599C>A c.1849G>T (p.Gly617Trp) c.1546G>T (p.Gly516Trp) c.1774G>T (p.Gly592Trp) n.4262G>T n.4918G>T n.5378G>T | |
7 | g.148811684C>G | CA369713146 | EZH2 | n.3788G>C c.*950G>C (n.*950G>C) c.*784G>C (n.*784G>C) n.3607G>C n.2779G>C n.2204G>C n.2266G>C c.1888G>C (p.Gly630Arg) c.1756G>C (p.Gly586Arg) c.1873G>C (p.Gly625Arg) n.140G>C c.1720G>C (p.Gly574Arg) c.1846G>C (p.Gly616Arg) c.*1878G>C (n.*1878G>C) c.1897G>C (p.Gly633Arg) c.1870G>C (p.Gly624Arg) c.1744G>C (p.Gly582Arg) c.1912G>C (p.Gly638Arg) c.1885G>C (p.Gly629Arg) c.1864G>C (p.Gly622Arg) c.1861G>C (p.Gly621Arg) c.1822G>C (p.Gly608Arg) c.1795G>C (p.Gly599Arg) c.1789G>C (p.Gly597Arg) c.1786G>C (p.Gly596Arg) c.1780G>C (p.Gly594Arg) c.1771G>C (p.Gly591Arg) c.1768G>C (p.Gly590Arg) c.1654G>C (p.Gly552Arg) c.1561G>C (p.Gly521Arg) n.515+6599C>G n.722+6599C>G c.1849G>C (p.Gly617Arg) c.1546G>C (p.Gly516Arg) c.1774G>C (p.Gly592Arg) n.4262G>C n.4918G>C n.5378G>C | dbSNP |
7 | g.148811684C>T | CA369713147 | EZH2 | n.3788G>A c.*950G>A (n.*950G>A) c.*784G>A (n.*784G>A) n.3607G>A n.2779G>A n.2204G>A n.2266G>A c.1888G>A (p.Gly630Arg) c.1756G>A (p.Gly586Arg) c.1873G>A (p.Gly625Arg) n.140G>A c.1720G>A (p.Gly574Arg) c.1846G>A (p.Gly616Arg) c.*1878G>A (n.*1878G>A) c.1897G>A (p.Gly633Arg) c.1870G>A (p.Gly624Arg) c.1744G>A (p.Gly582Arg) c.1912G>A (p.Gly638Arg) c.1885G>A (p.Gly629Arg) c.1864G>A (p.Gly622Arg) c.1861G>A (p.Gly621Arg) c.1822G>A (p.Gly608Arg) c.1795G>A (p.Gly599Arg) c.1789G>A (p.Gly597Arg) c.1786G>A (p.Gly596Arg) c.1780G>A (p.Gly594Arg) c.1771G>A (p.Gly591Arg) c.1768G>A (p.Gly590Arg) c.1654G>A (p.Gly552Arg) c.1561G>A (p.Gly521Arg) n.515+6599C>T n.722+6599C>T c.1849G>A (p.Gly617Arg) c.1546G>A (p.Gly516Arg) c.1774G>A (p.Gly592Arg) n.4262G>A n.4918G>A n.5378G>A | dbSNP |
7 | g.148811685C>A | CA369713148 | EZH2 | n.3787G>T c.*949G>T (n.*949G>T) c.*783G>T (n.*783G>T) n.3606G>T n.2778G>T n.2203G>T n.2265G>T c.1887G>T (p.Trp629Cys) c.1755G>T (p.Trp585Cys) c.1872G>T (p.Trp624Cys) n.139G>T c.1719G>T (p.Trp573Cys) c.1845G>T (p.Trp615Cys) c.*1877G>T (n.*1877G>T) c.1896G>T (p.Trp632Cys) c.1869G>T (p.Trp623Cys) c.1743G>T (p.Trp581Cys) c.1911G>T (p.Trp637Cys) c.1884G>T (p.Trp628Cys) c.1863G>T (p.Trp621Cys) c.1860G>T (p.Trp620Cys) c.1821G>T (p.Trp607Cys) c.1794G>T (p.Trp598Cys) c.1788G>T (p.Trp596Cys) c.1785G>T (p.Trp595Cys) c.1779G>T (p.Trp593Cys) c.1770G>T (p.Trp590Cys) c.1767G>T (p.Trp589Cys) c.1653G>T (p.Trp551Cys) c.1560G>T (p.Trp520Cys) n.515+6600C>A n.722+6600C>A c.1848G>T (p.Trp616Cys) c.1545G>T (p.Trp515Cys) c.1773G>T (p.Trp591Cys) n.4261G>T n.4917G>T n.5377G>T | dbSNP gnomAD v4 |
7 | g.148811685C>G | CA369713149 | EZH2 | n.3787G>C c.*949G>C (n.*949G>C) c.*783G>C (n.*783G>C) n.3606G>C n.2778G>C n.2203G>C n.2265G>C c.1887G>C (p.Trp629Cys) c.1755G>C (p.Trp585Cys) c.1872G>C (p.Trp624Cys) n.139G>C c.1719G>C (p.Trp573Cys) c.1845G>C (p.Trp615Cys) c.*1877G>C (n.*1877G>C) c.1896G>C (p.Trp632Cys) c.1869G>C (p.Trp623Cys) c.1743G>C (p.Trp581Cys) c.1911G>C (p.Trp637Cys) c.1884G>C (p.Trp628Cys) c.1863G>C (p.Trp621Cys) c.1860G>C (p.Trp620Cys) c.1821G>C (p.Trp607Cys) c.1794G>C (p.Trp598Cys) c.1788G>C (p.Trp596Cys) c.1785G>C (p.Trp595Cys) c.1779G>C (p.Trp593Cys) c.1770G>C (p.Trp590Cys) c.1767G>C (p.Trp589Cys) c.1653G>C (p.Trp551Cys) c.1560G>C (p.Trp520Cys) n.515+6600C>G n.722+6600C>G c.1848G>C (p.Trp616Cys) c.1545G>C (p.Trp515Cys) c.1773G>C (p.Trp591Cys) n.4261G>C n.4917G>C n.5377G>C | dbSNP |
7 | g.148811685C>T | CA369713150 | EZH2 | n.3787G>A c.*949G>A (n.*949G>A) c.*783G>A (n.*783G>A) n.3606G>A n.2778G>A n.2203G>A n.2265G>A c.1887G>A (p.Trp629Ter) c.1755G>A (p.Trp585Ter) c.1872G>A (p.Trp624Ter) n.139G>A c.1719G>A (p.Trp573Ter) c.1845G>A (p.Trp615Ter) c.*1877G>A (n.*1877G>A) c.1896G>A (p.Trp632Ter) c.1869G>A (p.Trp623Ter) c.1743G>A (p.Trp581Ter) c.1911G>A (p.Trp637Ter) c.1884G>A (p.Trp628Ter) c.1863G>A (p.Trp621Ter) c.1860G>A (p.Trp620Ter) c.1821G>A (p.Trp607Ter) c.1794G>A (p.Trp598Ter) c.1788G>A (p.Trp596Ter) c.1785G>A (p.Trp595Ter) c.1779G>A (p.Trp593Ter) c.1770G>A (p.Trp590Ter) c.1767G>A (p.Trp589Ter) c.1653G>A (p.Trp551Ter) c.1560G>A (p.Trp520Ter) n.515+6600C>T n.722+6600C>T c.1848G>A (p.Trp616Ter) c.1545G>A (p.Trp515Ter) c.1773G>A (p.Trp591Ter) n.4261G>A n.4917G>A n.5377G>A | dbSNP |
7 | g.148811686C>A | CA369713153 | EZH2 | n.3786G>T c.*948G>T (n.*948G>T) c.*782G>T (n.*782G>T) n.3605G>T n.2777G>T n.2202G>T n.2264G>T c.1886G>T (p.Trp629Leu) c.1754G>T (p.Trp585Leu) c.1871G>T (p.Trp624Leu) n.138G>T c.1718G>T (p.Trp573Leu) c.1844G>T (p.Trp615Leu) c.*1876G>T (n.*1876G>T) c.1895G>T (p.Trp632Leu) c.1868G>T (p.Trp623Leu) c.1742G>T (p.Trp581Leu) c.1910G>T (p.Trp637Leu) c.1883G>T (p.Trp628Leu) c.1862G>T (p.Trp621Leu) c.1859G>T (p.Trp620Leu) c.1820G>T (p.Trp607Leu) c.1793G>T (p.Trp598Leu) c.1787G>T (p.Trp596Leu) c.1784G>T (p.Trp595Leu) c.1778G>T (p.Trp593Leu) c.1769G>T (p.Trp590Leu) c.1766G>T (p.Trp589Leu) c.1652G>T (p.Trp551Leu) c.1559G>T (p.Trp520Leu) n.515+6601C>A n.722+6601C>A c.1847G>T (p.Trp616Leu) c.1544G>T (p.Trp515Leu) c.1772G>T (p.Trp591Leu) n.4260G>T n.4916G>T n.5376G>T | dbSNP |
7 | g.148811686C>G | CA369713151 | EZH2 | n.3786G>C c.*948G>C (n.*948G>C) c.*782G>C (n.*782G>C) n.3605G>C n.2777G>C n.2202G>C n.2264G>C c.1886G>C (p.Trp629Ser) c.1754G>C (p.Trp585Ser) c.1871G>C (p.Trp624Ser) n.138G>C c.1718G>C (p.Trp573Ser) c.1844G>C (p.Trp615Ser) c.*1876G>C (n.*1876G>C) c.1895G>C (p.Trp632Ser) c.1868G>C (p.Trp623Ser) c.1742G>C (p.Trp581Ser) c.1910G>C (p.Trp637Ser) c.1883G>C (p.Trp628Ser) c.1862G>C (p.Trp621Ser) c.1859G>C (p.Trp620Ser) c.1820G>C (p.Trp607Ser) c.1793G>C (p.Trp598Ser) c.1787G>C (p.Trp596Ser) c.1784G>C (p.Trp595Ser) c.1778G>C (p.Trp593Ser) c.1769G>C (p.Trp590Ser) c.1766G>C (p.Trp589Ser) c.1652G>C (p.Trp551Ser) c.1559G>C (p.Trp520Ser) n.515+6601C>G n.722+6601C>G c.1847G>C (p.Trp616Ser) c.1544G>C (p.Trp515Ser) c.1772G>C (p.Trp591Ser) n.4260G>C n.4916G>C n.5376G>C | |
7 | g.148811686C>T | CA369713152 | EZH2 | n.3786G>A c.*948G>A (n.*948G>A) c.*782G>A (n.*782G>A) n.3605G>A n.2777G>A n.2202G>A n.2264G>A c.1886G>A (p.Trp629Ter) c.1754G>A (p.Trp585Ter) c.1871G>A (p.Trp624Ter) n.138G>A c.1718G>A (p.Trp573Ter) c.1844G>A (p.Trp615Ter) c.*1876G>A (n.*1876G>A) c.1895G>A (p.Trp632Ter) c.1868G>A (p.Trp623Ter) c.1742G>A (p.Trp581Ter) c.1910G>A (p.Trp637Ter) c.1883G>A (p.Trp628Ter) c.1862G>A (p.Trp621Ter) c.1859G>A (p.Trp620Ter) c.1820G>A (p.Trp607Ter) c.1793G>A (p.Trp598Ter) c.1787G>A (p.Trp596Ter) c.1784G>A (p.Trp595Ter) c.1778G>A (p.Trp593Ter) c.1769G>A (p.Trp590Ter) c.1766G>A (p.Trp589Ter) c.1652G>A (p.Trp551Ter) c.1559G>A (p.Trp520Ter) n.515+6601C>T n.722+6601C>T c.1847G>A (p.Trp616Ter) c.1544G>A (p.Trp515Ter) c.1772G>A (p.Trp591Ter) n.4260G>A n.4916G>A n.5376G>A | dbSNP |
7 | g.148811687A>C | CA369713154 | EZH2 | n.3785T>G c.*947T>G (n.*947T>G) c.*781T>G (n.*781T>G) n.3604T>G n.2776T>G n.2201T>G n.2263T>G c.1885T>G (p.Trp629Gly) c.1753T>G (p.Trp585Gly) c.1870T>G (p.Trp624Gly) n.137T>G c.1717T>G (p.Trp573Gly) c.1843T>G (p.Trp615Gly) c.*1875T>G (n.*1875T>G) c.1894T>G (p.Trp632Gly) c.1867T>G (p.Trp623Gly) c.1741T>G (p.Trp581Gly) c.1909T>G (p.Trp637Gly) c.1882T>G (p.Trp628Gly) c.1861T>G (p.Trp621Gly) c.1858T>G (p.Trp620Gly) c.1819T>G (p.Trp607Gly) c.1792T>G (p.Trp598Gly) c.1786T>G (p.Trp596Gly) c.1783T>G (p.Trp595Gly) c.1777T>G (p.Trp593Gly) c.1768T>G (p.Trp590Gly) c.1765T>G (p.Trp589Gly) c.1651T>G (p.Trp551Gly) c.1558T>G (p.Trp520Gly) n.515+6602A>C n.722+6602A>C c.1846T>G (p.Trp616Gly) c.1543T>G (p.Trp515Gly) c.1771T>G (p.Trp591Gly) n.4259T>G n.4915T>G n.5375T>G | |
7 | g.148811687A>G | CA369713155 | EZH2 | n.3785T>C c.*947T>C (n.*947T>C) c.*781T>C (n.*781T>C) n.3604T>C n.2776T>C n.2201T>C n.2263T>C c.1885T>C (p.Trp629Arg) c.1753T>C (p.Trp585Arg) c.1870T>C (p.Trp624Arg) n.137T>C c.1717T>C (p.Trp573Arg) c.1843T>C (p.Trp615Arg) c.*1875T>C (n.*1875T>C) c.1894T>C (p.Trp632Arg) c.1867T>C (p.Trp623Arg) c.1741T>C (p.Trp581Arg) c.1909T>C (p.Trp637Arg) c.1882T>C (p.Trp628Arg) c.1861T>C (p.Trp621Arg) c.1858T>C (p.Trp620Arg) c.1819T>C (p.Trp607Arg) c.1792T>C (p.Trp598Arg) c.1786T>C (p.Trp596Arg) c.1783T>C (p.Trp595Arg) c.1777T>C (p.Trp593Arg) c.1768T>C (p.Trp590Arg) c.1765T>C (p.Trp589Arg) c.1651T>C (p.Trp551Arg) c.1558T>C (p.Trp520Arg) n.515+6602A>G n.722+6602A>G c.1846T>C (p.Trp616Arg) c.1543T>C (p.Trp515Arg) c.1771T>C (p.Trp591Arg) n.4259T>C n.4915T>C n.5375T>C | COSMIC COSMIC |
7 | g.148811687A>T | CA369713156 | EZH2 | n.3785T>A c.*947T>A (n.*947T>A) c.*781T>A (n.*781T>A) n.3604T>A n.2776T>A n.2201T>A n.2263T>A c.1885T>A (p.Trp629Arg) c.1753T>A (p.Trp585Arg) c.1870T>A (p.Trp624Arg) n.137T>A c.1717T>A (p.Trp573Arg) c.1843T>A (p.Trp615Arg) c.*1875T>A (n.*1875T>A) c.1894T>A (p.Trp632Arg) c.1867T>A (p.Trp623Arg) c.1741T>A (p.Trp581Arg) c.1909T>A (p.Trp637Arg) c.1882T>A (p.Trp628Arg) c.1861T>A (p.Trp621Arg) c.1858T>A (p.Trp620Arg) c.1819T>A (p.Trp607Arg) c.1792T>A (p.Trp598Arg) c.1786T>A (p.Trp596Arg) c.1783T>A (p.Trp595Arg) c.1777T>A (p.Trp593Arg) c.1768T>A (p.Trp590Arg) c.1765T>A (p.Trp589Arg) c.1651T>A (p.Trp551Arg) c.1558T>A (p.Trp520Arg) n.515+6602A>T n.722+6602A>T c.1846T>A (p.Trp616Arg) c.1543T>A (p.Trp515Arg) c.1771T>A (p.Trp591Arg) n.4259T>A n.4915T>A n.5375T>A | dbSNP |
7 | g.148811688G>A | CA4547769 | EZH2 | n.3784C>T c.*946C>T (n.*946C>T) c.*780C>T (n.*780C>T) n.3603C>T n.2775C>T n.2200C>T n.2262C>T c.1884C>T (p.Gly628=) c.1752C>T (p.Gly584=) c.1869C>T (p.Gly623=) n.136C>T c.1716C>T (p.Gly572=) c.1842C>T (p.Gly614=) c.*1874C>T (n.*1874C>T) c.1893C>T (p.Gly631=) c.1866C>T (p.Gly622=) c.1740C>T (p.Gly580=) c.1908C>T (p.Gly636=) c.1881C>T (p.Gly627=) c.1860C>T (p.Gly620=) c.1857C>T (p.Gly619=) c.1818C>T (p.Gly606=) c.1791C>T (p.Gly597=) c.1785C>T (p.Gly595=) c.1782C>T (p.Gly594=) c.1776C>T (p.Gly592=) c.1767C>T (p.Gly589=) c.1764C>T (p.Gly588=) c.1650C>T (p.Gly550=) c.1557C>T (p.Gly519=) n.515+6603G>A n.722+6603G>A c.1845C>T (p.Gly615=) c.1542C>T (p.Gly514=) c.1770C>T (p.Gly590=) n.4258C>T n.4914C>T n.5374C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.148811688G>C | CA271509 | EZH2 | n.3784C>G c.*946C>G (n.*946C>G) c.*780C>G (n.*780C>G) n.3603C>G n.2775C>G n.2200C>G n.2262C>G c.1884C>G (p.Gly628=) c.1752C>G (p.Gly584=) c.1869C>G (p.Gly623=) n.136C>G c.1716C>G (p.Gly572=) c.1842C>G (p.Gly614=) c.*1874C>G (n.*1874C>G) c.1893C>G (p.Gly631=) c.1866C>G (p.Gly622=) c.1740C>G (p.Gly580=) c.1908C>G (p.Gly636=) c.1881C>G (p.Gly627=) c.1860C>G (p.Gly620=) c.1857C>G (p.Gly619=) c.1818C>G (p.Gly606=) c.1791C>G (p.Gly597=) c.1785C>G (p.Gly595=) c.1782C>G (p.Gly594=) c.1776C>G (p.Gly592=) c.1767C>G (p.Gly589=) c.1764C>G (p.Gly588=) c.1650C>G (p.Gly550=) c.1557C>G (p.Gly519=) n.515+6603G>C n.722+6603G>C c.1845C>G (p.Gly615=) c.1542C>G (p.Gly514=) c.1770C>G (p.Gly590=) n.4258C>G n.4914C>G n.5374C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.148811688G= | CA1751424159 | EZH2 | n.3784C= c.*946C= (n.*946C=) c.*780C= (n.*780C=) n.3603C= n.2775C= n.2200C= n.2262C= c.1884C= (p.Gly628=) c.1752C= (p.Gly584=) c.1869C= (p.Gly623=) n.136C= c.1716C= (p.Gly572=) c.1842C= (p.Gly614=) c.*1874C= (n.*1874C=) c.1893C= (p.Gly631=) c.1866C= (p.Gly622=) c.1740C= (p.Gly580=) c.1908C= (p.Gly636=) c.1881C= (p.Gly627=) c.1860C= (p.Gly620=) c.1857C= (p.Gly619=) c.1818C= (p.Gly606=) c.1791C= (p.Gly597=) c.1785C= (p.Gly595=) c.1782C= (p.Gly594=) c.1776C= (p.Gly592=) c.1767C= (p.Gly589=) c.1764C= (p.Gly588=) c.1650C= (p.Gly550=) c.1557C= (p.Gly519=) n.515+6603G= n.722+6603G= c.1845C= (p.Gly615=) c.1542C= (p.Gly514=) c.1770C= (p.Gly590=) n.4258C= n.4914C= n.5374C= | |
7 | g.148811688G>T | CA458345837 | EZH2 | n.3784C>A c.*946C>A (n.*946C>A) c.*780C>A (n.*780C>A) n.3603C>A n.2775C>A n.2200C>A n.2262C>A c.1884C>A (p.Gly628=) c.1752C>A (p.Gly584=) c.1869C>A (p.Gly623=) n.136C>A c.1716C>A (p.Gly572=) c.1842C>A (p.Gly614=) c.*1874C>A (n.*1874C>A) c.1893C>A (p.Gly631=) c.1866C>A (p.Gly622=) c.1740C>A (p.Gly580=) c.1908C>A (p.Gly636=) c.1881C>A (p.Gly627=) c.1860C>A (p.Gly620=) c.1857C>A (p.Gly619=) c.1818C>A (p.Gly606=) c.1791C>A (p.Gly597=) c.1785C>A (p.Gly595=) c.1782C>A (p.Gly594=) c.1776C>A (p.Gly592=) c.1767C>A (p.Gly589=) c.1764C>A (p.Gly588=) c.1650C>A (p.Gly550=) c.1557C>A (p.Gly519=) n.515+6603G>T n.722+6603G>T c.1845C>A (p.Gly615=) c.1542C>A (p.Gly514=) c.1770C>A (p.Gly590=) n.4258C>A n.4914C>A n.5374C>A | |
7 | g.148811689C>A | CA369713157 | EZH2 | n.3783G>T c.*945G>T (n.*945G>T) c.*779G>T (n.*779G>T) n.3602G>T n.2774G>T n.2199G>T n.2261G>T c.1883G>T (p.Gly628Val) c.1751G>T (p.Gly584Val) c.1868G>T (p.Gly623Val) n.135G>T c.1715G>T (p.Gly572Val) c.1841G>T (p.Gly614Val) c.*1873G>T (n.*1873G>T) c.1892G>T (p.Gly631Val) c.1865G>T (p.Gly622Val) c.1739G>T (p.Gly580Val) c.1907G>T (p.Gly636Val) c.1880G>T (p.Gly627Val) c.1859G>T (p.Gly620Val) c.1856G>T (p.Gly619Val) c.1817G>T (p.Gly606Val) c.1790G>T (p.Gly597Val) c.1784G>T (p.Gly595Val) c.1781G>T (p.Gly594Val) c.1775G>T (p.Gly592Val) c.1766G>T (p.Gly589Val) c.1763G>T (p.Gly588Val) c.1649G>T (p.Gly550Val) c.1556G>T (p.Gly519Val) n.515+6604C>A n.722+6604C>A c.1844G>T (p.Gly615Val) c.1541G>T (p.Gly514Val) c.1769G>T (p.Gly590Val) n.4257G>T n.4913G>T n.5373G>T | dbSNP COSMIC |
7 | g.148811689C= | CA1751424160 | EZH2 | n.3783G= c.*945G= (n.*945G=) c.*779G= (n.*779G=) n.3602G= n.2774G= n.2199G= n.2261G= c.1883G= (p.Gly628=) c.1751G= (p.Gly584=) c.1868G= (p.Gly623=) n.135G= c.1715G= (p.Gly572=) c.1841G= (p.Gly614=) c.*1873G= (n.*1873G=) c.1892G= (p.Gly631=) c.1865G= (p.Gly622=) c.1739G= (p.Gly580=) c.1907G= (p.Gly636=) c.1880G= (p.Gly627=) c.1859G= (p.Gly620=) c.1856G= (p.Gly619=) c.1817G= (p.Gly606=) c.1790G= (p.Gly597=) c.1784G= (p.Gly595=) c.1781G= (p.Gly594=) c.1775G= (p.Gly592=) c.1766G= (p.Gly589=) c.1763G= (p.Gly588=) c.1649G= (p.Gly550=) c.1556G= (p.Gly519=) n.515+6604C= n.722+6604C= c.1844G= (p.Gly615=) c.1541G= (p.Gly514=) c.1769G= (p.Gly590=) n.4257G= n.4913G= n.5373G= | |
7 | g.148811689C>G | CA369713158 | EZH2 | n.3783G>C c.*945G>C (n.*945G>C) c.*779G>C (n.*779G>C) n.3602G>C n.2774G>C n.2199G>C n.2261G>C c.1883G>C (p.Gly628Ala) c.1751G>C (p.Gly584Ala) c.1868G>C (p.Gly623Ala) n.135G>C c.1715G>C (p.Gly572Ala) c.1841G>C (p.Gly614Ala) c.*1873G>C (n.*1873G>C) c.1892G>C (p.Gly631Ala) c.1865G>C (p.Gly622Ala) c.1739G>C (p.Gly580Ala) c.1907G>C (p.Gly636Ala) c.1880G>C (p.Gly627Ala) c.1859G>C (p.Gly620Ala) c.1856G>C (p.Gly619Ala) c.1817G>C (p.Gly606Ala) c.1790G>C (p.Gly597Ala) c.1784G>C (p.Gly595Ala) c.1781G>C (p.Gly594Ala) c.1775G>C (p.Gly592Ala) c.1766G>C (p.Gly589Ala) c.1763G>C (p.Gly588Ala) c.1649G>C (p.Gly550Ala) c.1556G>C (p.Gly519Ala) n.515+6604C>G n.722+6604C>G c.1844G>C (p.Gly615Ala) c.1541G>C (p.Gly514Ala) c.1769G>C (p.Gly590Ala) n.4257G>C n.4913G>C n.5373G>C | dbSNP |
7 | g.148811689C>T | CA369713159 | EZH2 | n.3783G>A c.*945G>A (n.*945G>A) c.*779G>A (n.*779G>A) n.3602G>A n.2774G>A n.2199G>A n.2261G>A c.1883G>A (p.Gly628Asp) c.1751G>A (p.Gly584Asp) c.1868G>A (p.Gly623Asp) n.135G>A c.1715G>A (p.Gly572Asp) c.1841G>A (p.Gly614Asp) c.*1873G>A (n.*1873G>A) c.1892G>A (p.Gly631Asp) c.1865G>A (p.Gly622Asp) c.1739G>A (p.Gly580Asp) c.1907G>A (p.Gly636Asp) c.1880G>A (p.Gly627Asp) c.1859G>A (p.Gly620Asp) c.1856G>A (p.Gly619Asp) c.1817G>A (p.Gly606Asp) c.1790G>A (p.Gly597Asp) c.1784G>A (p.Gly595Asp) c.1781G>A (p.Gly594Asp) c.1775G>A (p.Gly592Asp) c.1766G>A (p.Gly589Asp) c.1763G>A (p.Gly588Asp) c.1649G>A (p.Gly550Asp) c.1556G>A (p.Gly519Asp) n.515+6604C>T n.722+6604C>T c.1844G>A (p.Gly615Asp) c.1541G>A (p.Gly514Asp) c.1769G>A (p.Gly590Asp) n.4257G>A n.4913G>A n.5373G>A | dbSNP |
7 | g.148811690C>A | CA369713160 | EZH2 | n.3782G>T c.*944G>T (n.*944G>T) c.*778G>T (n.*778G>T) n.3601G>T n.2773G>T n.2198G>T n.2260G>T c.1882G>T (p.Gly628Cys) c.1750G>T (p.Gly584Cys) c.1867G>T (p.Gly623Cys) n.134G>T c.1714G>T (p.Gly572Cys) c.1840G>T (p.Gly614Cys) c.*1872G>T (n.*1872G>T) c.1891G>T (p.Gly631Cys) c.1864G>T (p.Gly622Cys) c.1738G>T (p.Gly580Cys) c.1906G>T (p.Gly636Cys) c.1879G>T (p.Gly627Cys) c.1858G>T (p.Gly620Cys) c.1855G>T (p.Gly619Cys) c.1816G>T (p.Gly606Cys) c.1789G>T (p.Gly597Cys) c.1783G>T (p.Gly595Cys) c.1780G>T (p.Gly594Cys) c.1774G>T (p.Gly592Cys) c.1765G>T (p.Gly589Cys) c.1762G>T (p.Gly588Cys) c.1648G>T (p.Gly550Cys) c.1555G>T (p.Gly519Cys) n.515+6605C>A n.722+6605C>A c.1843G>T (p.Gly615Cys) c.1540G>T (p.Gly514Cys) c.1768G>T (p.Gly590Cys) n.4256G>T n.4912G>T n.5372G>T | |
7 | g.148811690C>G | CA369713161 | EZH2 | n.3782G>C c.*944G>C (n.*944G>C) c.*778G>C (n.*778G>C) n.3601G>C n.2773G>C n.2198G>C n.2260G>C c.1882G>C (p.Gly628Arg) c.1750G>C (p.Gly584Arg) c.1867G>C (p.Gly623Arg) n.134G>C c.1714G>C (p.Gly572Arg) c.1840G>C (p.Gly614Arg) c.*1872G>C (n.*1872G>C) c.1891G>C (p.Gly631Arg) c.1864G>C (p.Gly622Arg) c.1738G>C (p.Gly580Arg) c.1906G>C (p.Gly636Arg) c.1879G>C (p.Gly627Arg) c.1858G>C (p.Gly620Arg) c.1855G>C (p.Gly619Arg) c.1816G>C (p.Gly606Arg) c.1789G>C (p.Gly597Arg) c.1783G>C (p.Gly595Arg) c.1780G>C (p.Gly594Arg) c.1774G>C (p.Gly592Arg) c.1765G>C (p.Gly589Arg) c.1762G>C (p.Gly588Arg) c.1648G>C (p.Gly550Arg) c.1555G>C (p.Gly519Arg) n.515+6605C>G n.722+6605C>G c.1843G>C (p.Gly615Arg) c.1540G>C (p.Gly514Arg) c.1768G>C (p.Gly590Arg) n.4256G>C n.4912G>C n.5372G>C | |
7 | g.148811690C>T | CA369713162 | EZH2 | n.3782G>A c.*944G>A (n.*944G>A) c.*778G>A (n.*778G>A) n.3601G>A n.2773G>A n.2198G>A n.2260G>A c.1882G>A (p.Gly628Ser) c.1750G>A (p.Gly584Ser) c.1867G>A (p.Gly623Ser) n.134G>A c.1714G>A (p.Gly572Ser) c.1840G>A (p.Gly614Ser) c.*1872G>A (n.*1872G>A) c.1891G>A (p.Gly631Ser) c.1864G>A (p.Gly622Ser) c.1738G>A (p.Gly580Ser) c.1906G>A (p.Gly636Ser) c.1879G>A (p.Gly627Ser) c.1858G>A (p.Gly620Ser) c.1855G>A (p.Gly619Ser) c.1816G>A (p.Gly606Ser) c.1789G>A (p.Gly597Ser) c.1783G>A (p.Gly595Ser) c.1780G>A (p.Gly594Ser) c.1774G>A (p.Gly592Ser) c.1765G>A (p.Gly589Ser) c.1762G>A (p.Gly588Ser) c.1648G>A (p.Gly550Ser) c.1555G>A (p.Gly519Ser) n.515+6605C>T n.722+6605C>T c.1843G>A (p.Gly615Ser) c.1540G>A (p.Gly514Ser) c.1768G>A (p.Gly590Ser) n.4256G>A n.4912G>A n.5372G>A | ClinVar dbSNP |
7 | g.148811691T>A | CA458345839 | EZH2 | n.3781A>T c.*943A>T (n.*943A>T) c.*777A>T (n.*777A>T) n.3600A>T n.2772A>T n.2197A>T n.2259A>T c.1881A>T (p.Ala627=) c.1749A>T (p.Ala583=) c.1866A>T (p.Ala622=) n.133A>T c.1713A>T (p.Ala571=) c.1839A>T (p.Ala613=) c.*1871A>T (n.*1871A>T) c.1890A>T (p.Ala630=) c.1863A>T (p.Ala621=) c.1737A>T (p.Ala579=) c.1905A>T (p.Ala635=) c.1878A>T (p.Ala626=) c.1857A>T (p.Ala619=) c.1854A>T (p.Ala618=) c.1815A>T (p.Ala605=) c.1788A>T (p.Ala596=) c.1782A>T (p.Ala594=) c.1779A>T (p.Ala593=) c.1773A>T (p.Ala591=) c.1764A>T (p.Ala588=) c.1761A>T (p.Ala587=) c.1647A>T (p.Ala549=) c.1554A>T (p.Ala518=) n.515+6606T>A n.722+6606T>A c.1842A>T (p.Ala614=) c.1539A>T (p.Ala513=) c.1767A>T (p.Ala589=) n.4255A>T n.4911A>T n.5371A>T | dbSNP |
7 | g.148811691T>C | CA458345840 | EZH2 | n.3781A>G c.*943A>G (n.*943A>G) c.*777A>G (n.*777A>G) n.3600A>G n.2772A>G n.2197A>G n.2259A>G c.1881A>G (p.Ala627=) c.1749A>G (p.Ala583=) c.1866A>G (p.Ala622=) n.133A>G c.1713A>G (p.Ala571=) c.1839A>G (p.Ala613=) c.*1871A>G (n.*1871A>G) c.1890A>G (p.Ala630=) c.1863A>G (p.Ala621=) c.1737A>G (p.Ala579=) c.1905A>G (p.Ala635=) c.1878A>G (p.Ala626=) c.1857A>G (p.Ala619=) c.1854A>G (p.Ala618=) c.1815A>G (p.Ala605=) c.1788A>G (p.Ala596=) c.1782A>G (p.Ala594=) c.1779A>G (p.Ala593=) c.1773A>G (p.Ala591=) c.1764A>G (p.Ala588=) c.1761A>G (p.Ala587=) c.1647A>G (p.Ala549=) c.1554A>G (p.Ala518=) n.515+6606T>C n.722+6606T>C c.1842A>G (p.Ala614=) c.1539A>G (p.Ala513=) c.1767A>G (p.Ala589=) n.4255A>G n.4911A>G n.5371A>G | |
7 | g.148811691T>G | CA458345841 | EZH2 | n.3781A>C c.*943A>C (n.*943A>C) c.*777A>C (n.*777A>C) n.3600A>C n.2772A>C n.2197A>C n.2259A>C c.1881A>C (p.Ala627=) c.1749A>C (p.Ala583=) c.1866A>C (p.Ala622=) n.133A>C c.1713A>C (p.Ala571=) c.1839A>C (p.Ala613=) c.*1871A>C (n.*1871A>C) c.1890A>C (p.Ala630=) c.1863A>C (p.Ala621=) c.1737A>C (p.Ala579=) c.1905A>C (p.Ala635=) c.1878A>C (p.Ala626=) c.1857A>C (p.Ala619=) c.1854A>C (p.Ala618=) c.1815A>C (p.Ala605=) c.1788A>C (p.Ala596=) c.1782A>C (p.Ala594=) c.1779A>C (p.Ala593=) c.1773A>C (p.Ala591=) c.1764A>C (p.Ala588=) c.1761A>C (p.Ala587=) c.1647A>C (p.Ala549=) c.1554A>C (p.Ala518=) n.515+6606T>G n.722+6606T>G c.1842A>C (p.Ala614=) c.1539A>C (p.Ala513=) c.1767A>C (p.Ala589=) n.4255A>C n.4911A>C n.5371A>C | |
7 | g.148811692G>A | CA369713164 | EZH2 | n.3780C>T c.*942C>T (n.*942C>T) c.*776C>T (n.*776C>T) n.3599C>T n.2771C>T n.2196C>T n.2258C>T c.1880C>T (p.Ala627Val) c.1748C>T (p.Ala583Val) c.1865C>T (p.Ala622Val) n.132C>T c.1712C>T (p.Ala571Val) c.1838C>T (p.Ala613Val) c.*1870C>T (n.*1870C>T) c.1889C>T (p.Ala630Val) c.1862C>T (p.Ala621Val) c.1736C>T (p.Ala579Val) c.1904C>T (p.Ala635Val) c.1877C>T (p.Ala626Val) c.1856C>T (p.Ala619Val) c.1853C>T (p.Ala618Val) c.1814C>T (p.Ala605Val) c.1787C>T (p.Ala596Val) c.1781C>T (p.Ala594Val) c.1778C>T (p.Ala593Val) c.1772C>T (p.Ala591Val) c.1763C>T (p.Ala588Val) c.1760C>T (p.Ala587Val) c.1646C>T (p.Ala549Val) c.1553C>T (p.Ala518Val) n.515+6607G>A n.722+6607G>A c.1841C>T (p.Ala614Val) c.1538C>T (p.Ala513Val) c.1766C>T (p.Ala589Val) n.4254C>T n.4910C>T n.5370C>T | |
7 | g.148811692G>C | CA369713165 | EZH2 | n.3780C>G c.*942C>G (n.*942C>G) c.*776C>G (n.*776C>G) n.3599C>G n.2771C>G n.2196C>G n.2258C>G c.1880C>G (p.Ala627Gly) c.1748C>G (p.Ala583Gly) c.1865C>G (p.Ala622Gly) n.132C>G c.1712C>G (p.Ala571Gly) c.1838C>G (p.Ala613Gly) c.*1870C>G (n.*1870C>G) c.1889C>G (p.Ala630Gly) c.1862C>G (p.Ala621Gly) c.1736C>G (p.Ala579Gly) c.1904C>G (p.Ala635Gly) c.1877C>G (p.Ala626Gly) c.1856C>G (p.Ala619Gly) c.1853C>G (p.Ala618Gly) c.1814C>G (p.Ala605Gly) c.1787C>G (p.Ala596Gly) c.1781C>G (p.Ala594Gly) c.1778C>G (p.Ala593Gly) c.1772C>G (p.Ala591Gly) c.1763C>G (p.Ala588Gly) c.1760C>G (p.Ala587Gly) c.1646C>G (p.Ala549Gly) c.1553C>G (p.Ala518Gly) n.515+6607G>C n.722+6607G>C c.1841C>G (p.Ala614Gly) c.1538C>G (p.Ala513Gly) c.1766C>G (p.Ala589Gly) n.4254C>G n.4910C>G n.5370C>G | dbSNP |
7 | g.148811692G>T | CA369713163 | EZH2 | n.3780C>A c.*942C>A (n.*942C>A) c.*776C>A (n.*776C>A) n.3599C>A n.2771C>A n.2196C>A n.2258C>A c.1880C>A (p.Ala627Glu) c.1748C>A (p.Ala583Glu) c.1865C>A (p.Ala622Glu) n.132C>A c.1712C>A (p.Ala571Glu) c.1838C>A (p.Ala613Glu) c.*1870C>A (n.*1870C>A) c.1889C>A (p.Ala630Glu) c.1862C>A (p.Ala621Glu) c.1736C>A (p.Ala579Glu) c.1904C>A (p.Ala635Glu) c.1877C>A (p.Ala626Glu) c.1856C>A (p.Ala619Glu) c.1853C>A (p.Ala618Glu) c.1814C>A (p.Ala605Glu) c.1787C>A (p.Ala596Glu) c.1781C>A (p.Ala594Glu) c.1778C>A (p.Ala593Glu) c.1772C>A (p.Ala591Glu) c.1763C>A (p.Ala588Glu) c.1760C>A (p.Ala587Glu) c.1646C>A (p.Ala549Glu) c.1553C>A (p.Ala518Glu) n.515+6607G>T n.722+6607G>T c.1841C>A (p.Ala614Glu) c.1538C>A (p.Ala513Glu) c.1766C>A (p.Ala589Glu) n.4254C>A n.4910C>A n.5370C>A | COSMIC COSMIC |
7 | g.148811693C>A | CA369713166 | EZH2 | n.3779G>T c.*941G>T (n.*941G>T) c.*775G>T (n.*775G>T) n.3598G>T n.2770G>T n.2195G>T n.2257G>T c.1879G>T (p.Ala627Ser) c.1747G>T (p.Ala583Ser) c.1864G>T (p.Ala622Ser) n.131G>T c.1711G>T (p.Ala571Ser) c.1837G>T (p.Ala613Ser) c.*1869G>T (n.*1869G>T) c.1888G>T (p.Ala630Ser) c.1861G>T (p.Ala621Ser) c.1735G>T (p.Ala579Ser) c.1903G>T (p.Ala635Ser) c.1876G>T (p.Ala626Ser) c.1855G>T (p.Ala619Ser) c.1852G>T (p.Ala618Ser) c.1813G>T (p.Ala605Ser) c.1786G>T (p.Ala596Ser) c.1780G>T (p.Ala594Ser) c.1777G>T (p.Ala593Ser) c.1771G>T (p.Ala591Ser) c.1762G>T (p.Ala588Ser) c.1759G>T (p.Ala587Ser) c.1645G>T (p.Ala549Ser) c.1552G>T (p.Ala518Ser) n.515+6608C>A n.722+6608C>A c.1840G>T (p.Ala614Ser) c.1537G>T (p.Ala513Ser) c.1765G>T (p.Ala589Ser) n.4253G>T n.4909G>T n.5369G>T | ClinVar dbSNP |
7 | g.148811693C>G | CA369713167 | EZH2 | n.3779G>C c.*941G>C (n.*941G>C) c.*775G>C (n.*775G>C) n.3598G>C n.2770G>C n.2195G>C n.2257G>C c.1879G>C (p.Ala627Pro) c.1747G>C (p.Ala583Pro) c.1864G>C (p.Ala622Pro) n.131G>C c.1711G>C (p.Ala571Pro) c.1837G>C (p.Ala613Pro) c.*1869G>C (n.*1869G>C) c.1888G>C (p.Ala630Pro) c.1861G>C (p.Ala621Pro) c.1735G>C (p.Ala579Pro) c.1903G>C (p.Ala635Pro) c.1876G>C (p.Ala626Pro) c.1855G>C (p.Ala619Pro) c.1852G>C (p.Ala618Pro) c.1813G>C (p.Ala605Pro) c.1786G>C (p.Ala596Pro) c.1780G>C (p.Ala594Pro) c.1777G>C (p.Ala593Pro) c.1771G>C (p.Ala591Pro) c.1762G>C (p.Ala588Pro) c.1759G>C (p.Ala587Pro) c.1645G>C (p.Ala549Pro) c.1552G>C (p.Ala518Pro) n.515+6608C>G n.722+6608C>G c.1840G>C (p.Ala614Pro) c.1537G>C (p.Ala513Pro) c.1765G>C (p.Ala589Pro) n.4253G>C n.4909G>C n.5369G>C | dbSNP |
7 | g.148811693C>T | CA369713168 | EZH2 | n.3779G>A c.*941G>A (n.*941G>A) c.*775G>A (n.*775G>A) n.3598G>A n.2770G>A n.2195G>A n.2257G>A c.1879G>A (p.Ala627Thr) c.1747G>A (p.Ala583Thr) c.1864G>A (p.Ala622Thr) n.131G>A c.1711G>A (p.Ala571Thr) c.1837G>A (p.Ala613Thr) c.*1869G>A (n.*1869G>A) c.1888G>A (p.Ala630Thr) c.1861G>A (p.Ala621Thr) c.1735G>A (p.Ala579Thr) c.1903G>A (p.Ala635Thr) c.1876G>A (p.Ala626Thr) c.1855G>A (p.Ala619Thr) c.1852G>A (p.Ala618Thr) c.1813G>A (p.Ala605Thr) c.1786G>A (p.Ala596Thr) c.1780G>A (p.Ala594Thr) c.1777G>A (p.Ala593Thr) c.1771G>A (p.Ala591Thr) c.1762G>A (p.Ala588Thr) c.1759G>A (p.Ala587Thr) c.1645G>A (p.Ala549Thr) c.1552G>A (p.Ala518Thr) n.515+6608C>T n.722+6608C>T c.1840G>A (p.Ala614Thr) c.1537G>A (p.Ala513Thr) c.1765G>A (p.Ala589Thr) n.4253G>A n.4909G>A n.5369G>A | dbSNP |
7 | g.148811694C>A | CA458345843 | EZH2 | n.3778G>T c.*940G>T (n.*940G>T) c.*774G>T (n.*774G>T) n.3597G>T n.2769G>T n.2194G>T n.2256G>T c.1878G>T (p.Val626=) c.1746G>T (p.Val582=) c.1863G>T (p.Val621=) n.130G>T c.1710G>T (p.Val570=) c.1836G>T (p.Val612=) c.*1868G>T (n.*1868G>T) c.1887G>T (p.Val629=) c.1860G>T (p.Val620=) c.1734G>T (p.Val578=) c.1902G>T (p.Val634=) c.1875G>T (p.Val625=) c.1854G>T (p.Val618=) c.1851G>T (p.Val617=) c.1812G>T (p.Val604=) c.1785G>T (p.Val595=) c.1779G>T (p.Val593=) c.1776G>T (p.Val592=) c.1770G>T (p.Val590=) c.1761G>T (p.Val587=) c.1758G>T (p.Val586=) c.1644G>T (p.Val548=) c.1551G>T (p.Val517=) n.515+6609C>A n.722+6609C>A c.1839G>T (p.Val613=) c.1536G>T (p.Val512=) c.1764G>T (p.Val588=) n.4252G>T n.4908G>T n.5368G>T | dbSNP |
7 | g.148811694C= | CA1751424161 | EZH2 | n.3778G= c.*940G= (n.*940G=) c.*774G= (n.*774G=) n.3597G= n.2769G= n.2194G= n.2256G= c.1878G= (p.Val626=) c.1746G= (p.Val582=) c.1863G= (p.Val621=) n.130G= c.1710G= (p.Val570=) c.1836G= (p.Val612=) c.*1868G= (n.*1868G=) c.1887G= (p.Val629=) c.1860G= (p.Val620=) c.1734G= (p.Val578=) c.1902G= (p.Val634=) c.1875G= (p.Val625=) c.1854G= (p.Val618=) c.1851G= (p.Val617=) c.1812G= (p.Val604=) c.1785G= (p.Val595=) c.1779G= (p.Val593=) c.1776G= (p.Val592=) c.1770G= (p.Val590=) c.1761G= (p.Val587=) c.1758G= (p.Val586=) c.1644G= (p.Val548=) c.1551G= (p.Val517=) n.515+6609C= n.722+6609C= c.1839G= (p.Val613=) c.1536G= (p.Val512=) c.1764G= (p.Val588=) n.4252G= n.4908G= n.5368G= | |
7 | g.148811694C>G | CA458345844 | EZH2 | n.3778G>C c.*940G>C (n.*940G>C) c.*774G>C (n.*774G>C) n.3597G>C n.2769G>C n.2194G>C n.2256G>C c.1878G>C (p.Val626=) c.1746G>C (p.Val582=) c.1863G>C (p.Val621=) n.130G>C c.1710G>C (p.Val570=) c.1836G>C (p.Val612=) c.*1868G>C (n.*1868G>C) c.1887G>C (p.Val629=) c.1860G>C (p.Val620=) c.1734G>C (p.Val578=) c.1902G>C (p.Val634=) c.1875G>C (p.Val625=) c.1854G>C (p.Val618=) c.1851G>C (p.Val617=) c.1812G>C (p.Val604=) c.1785G>C (p.Val595=) c.1779G>C (p.Val593=) c.1776G>C (p.Val592=) c.1770G>C (p.Val590=) c.1761G>C (p.Val587=) c.1758G>C (p.Val586=) c.1644G>C (p.Val548=) c.1551G>C (p.Val517=) n.515+6609C>G n.722+6609C>G c.1839G>C (p.Val613=) c.1536G>C (p.Val512=) c.1764G>C (p.Val588=) n.4252G>C n.4908G>C n.5368G>C | dbSNP gnomAD v4 |
7 | g.148811694C>T | CA458345845 | EZH2 | n.3778G>A c.*940G>A (n.*940G>A) c.*774G>A (n.*774G>A) n.3597G>A n.2769G>A n.2194G>A n.2256G>A c.1878G>A (p.Val626=) c.1746G>A (p.Val582=) c.1863G>A (p.Val621=) n.130G>A c.1710G>A (p.Val570=) c.1836G>A (p.Val612=) c.*1868G>A (n.*1868G>A) c.1887G>A (p.Val629=) c.1860G>A (p.Val620=) c.1734G>A (p.Val578=) c.1902G>A (p.Val634=) c.1875G>A (p.Val625=) c.1854G>A (p.Val618=) c.1851G>A (p.Val617=) c.1812G>A (p.Val604=) c.1785G>A (p.Val595=) c.1779G>A (p.Val593=) c.1776G>A (p.Val592=) c.1770G>A (p.Val590=) c.1761G>A (p.Val587=) c.1758G>A (p.Val586=) c.1644G>A (p.Val548=) c.1551G>A (p.Val517=) n.515+6609C>T n.722+6609C>T c.1839G>A (p.Val613=) c.1536G>A (p.Val512=) c.1764G>A (p.Val588=) n.4252G>A n.4908G>A n.5368G>A | gnomAD v4 |
7 | g.148811695A>C | CA369713169 | EZH2 | n.3777T>G c.*939T>G (n.*939T>G) c.*773T>G (n.*773T>G) n.3596T>G n.2768T>G n.2193T>G n.2255T>G c.1877T>G (p.Val626Gly) c.1745T>G (p.Val582Gly) c.1862T>G (p.Val621Gly) n.129T>G c.1709T>G (p.Val570Gly) c.1835T>G (p.Val612Gly) c.*1867T>G (n.*1867T>G) c.1886T>G (p.Val629Gly) c.1859T>G (p.Val620Gly) c.1733T>G (p.Val578Gly) c.1901T>G (p.Val634Gly) c.1874T>G (p.Val625Gly) c.1853T>G (p.Val618Gly) c.1850T>G (p.Val617Gly) c.1811T>G (p.Val604Gly) c.1784T>G (p.Val595Gly) c.1778T>G (p.Val593Gly) c.1775T>G (p.Val592Gly) c.1769T>G (p.Val590Gly) c.1760T>G (p.Val587Gly) c.1757T>G (p.Val586Gly) c.1643T>G (p.Val548Gly) c.1550T>G (p.Val517Gly) n.515+6610A>C n.722+6610A>C c.1838T>G (p.Val613Gly) c.1535T>G (p.Val512Gly) c.1763T>G (p.Val588Gly) n.4251T>G n.4907T>G n.5367T>G | dbSNP |
7 | g.148811695A>G | CA369713170 | EZH2 | n.3777T>C c.*939T>C (n.*939T>C) c.*773T>C (n.*773T>C) n.3596T>C n.2768T>C n.2193T>C n.2255T>C c.1877T>C (p.Val626Ala) c.1745T>C (p.Val582Ala) c.1862T>C (p.Val621Ala) n.129T>C c.1709T>C (p.Val570Ala) c.1835T>C (p.Val612Ala) c.*1867T>C (n.*1867T>C) c.1886T>C (p.Val629Ala) c.1859T>C (p.Val620Ala) c.1733T>C (p.Val578Ala) c.1901T>C (p.Val634Ala) c.1874T>C (p.Val625Ala) c.1853T>C (p.Val618Ala) c.1850T>C (p.Val617Ala) c.1811T>C (p.Val604Ala) c.1784T>C (p.Val595Ala) c.1778T>C (p.Val593Ala) c.1775T>C (p.Val592Ala) c.1769T>C (p.Val590Ala) c.1760T>C (p.Val587Ala) c.1757T>C (p.Val586Ala) c.1643T>C (p.Val548Ala) c.1550T>C (p.Val517Ala) n.515+6610A>G n.722+6610A>G c.1838T>C (p.Val613Ala) c.1535T>C (p.Val512Ala) c.1763T>C (p.Val588Ala) n.4251T>C n.4907T>C n.5367T>C | COSMIC COSMIC |
7 | g.148811695A>T | CA369713171 | EZH2 | n.3777T>A c.*939T>A (n.*939T>A) c.*773T>A (n.*773T>A) n.3596T>A n.2768T>A n.2193T>A n.2255T>A c.1877T>A (p.Val626Glu) c.1745T>A (p.Val582Glu) c.1862T>A (p.Val621Glu) n.129T>A c.1709T>A (p.Val570Glu) c.1835T>A (p.Val612Glu) c.*1867T>A (n.*1867T>A) c.1886T>A (p.Val629Glu) c.1859T>A (p.Val620Glu) c.1733T>A (p.Val578Glu) c.1901T>A (p.Val634Glu) c.1874T>A (p.Val625Glu) c.1853T>A (p.Val618Glu) c.1850T>A (p.Val617Glu) c.1811T>A (p.Val604Glu) c.1784T>A (p.Val595Glu) c.1778T>A (p.Val593Glu) c.1775T>A (p.Val592Glu) c.1769T>A (p.Val590Glu) c.1760T>A (p.Val587Glu) c.1757T>A (p.Val586Glu) c.1643T>A (p.Val548Glu) c.1550T>A (p.Val517Glu) n.515+6610A>T n.722+6610A>T c.1838T>A (p.Val613Glu) c.1535T>A (p.Val512Glu) c.1763T>A (p.Val588Glu) n.4251T>A n.4907T>A n.5367T>A | dbSNP |
7 | g.148811696C>A | CA369713172 | EZH2 | n.3776G>T c.*938G>T (n.*938G>T) c.*772G>T (n.*772G>T) n.3595G>T n.2767G>T n.2192G>T n.2254G>T c.1876G>T (p.Val626Leu) c.1744G>T (p.Val582Leu) c.1861G>T (p.Val621Leu) n.128G>T c.1708G>T (p.Val570Leu) c.1834G>T (p.Val612Leu) c.*1866G>T (n.*1866G>T) c.1885G>T (p.Val629Leu) c.1858G>T (p.Val620Leu) c.1732G>T (p.Val578Leu) c.1900G>T (p.Val634Leu) c.1873G>T (p.Val625Leu) c.1852G>T (p.Val618Leu) c.1849G>T (p.Val617Leu) c.1810G>T (p.Val604Leu) c.1783G>T (p.Val595Leu) c.1777G>T (p.Val593Leu) c.1774G>T (p.Val592Leu) c.1768G>T (p.Val590Leu) c.1759G>T (p.Val587Leu) c.1756G>T (p.Val586Leu) c.1642G>T (p.Val548Leu) c.1549G>T (p.Val517Leu) n.515+6611C>A n.722+6611C>A c.1837G>T (p.Val613Leu) c.1534G>T (p.Val512Leu) c.1762G>T (p.Val588Leu) n.4250G>T n.4906G>T n.5366G>T | dbSNP |
7 | g.148811696C= | CA1751424162 | EZH2 | n.3776G= c.*938G= (n.*938G=) c.*772G= (n.*772G=) n.3595G= n.2767G= n.2192G= n.2254G= c.1876G= (p.Val626=) c.1744G= (p.Val582=) c.1861G= (p.Val621=) n.128G= c.1708G= (p.Val570=) c.1834G= (p.Val612=) c.*1866G= (n.*1866G=) c.1885G= (p.Val629=) c.1858G= (p.Val620=) c.1732G= (p.Val578=) c.1900G= (p.Val634=) c.1873G= (p.Val625=) c.1852G= (p.Val618=) c.1849G= (p.Val617=) c.1810G= (p.Val604=) c.1783G= (p.Val595=) c.1777G= (p.Val593=) c.1774G= (p.Val592=) c.1768G= (p.Val590=) c.1759G= (p.Val587=) c.1756G= (p.Val586=) c.1642G= (p.Val548=) c.1549G= (p.Val517=) n.515+6611C= n.722+6611C= c.1837G= (p.Val613=) c.1534G= (p.Val512=) c.1762G= (p.Val588=) n.4250G= n.4906G= n.5366G= | |
7 | g.148811696C>G | CA369713173 | EZH2 | n.3776G>C c.*938G>C (n.*938G>C) c.*772G>C (n.*772G>C) n.3595G>C n.2767G>C n.2192G>C n.2254G>C c.1876G>C (p.Val626Leu) c.1744G>C (p.Val582Leu) c.1861G>C (p.Val621Leu) n.128G>C c.1708G>C (p.Val570Leu) c.1834G>C (p.Val612Leu) c.*1866G>C (n.*1866G>C) c.1885G>C (p.Val629Leu) c.1858G>C (p.Val620Leu) c.1732G>C (p.Val578Leu) c.1900G>C (p.Val634Leu) c.1873G>C (p.Val625Leu) c.1852G>C (p.Val618Leu) c.1849G>C (p.Val617Leu) c.1810G>C (p.Val604Leu) c.1783G>C (p.Val595Leu) c.1777G>C (p.Val593Leu) c.1774G>C (p.Val592Leu) c.1768G>C (p.Val590Leu) c.1759G>C (p.Val587Leu) c.1756G>C (p.Val586Leu) c.1642G>C (p.Val548Leu) c.1549G>C (p.Val517Leu) n.515+6611C>G n.722+6611C>G c.1837G>C (p.Val613Leu) c.1534G>C (p.Val512Leu) c.1762G>C (p.Val588Leu) n.4250G>C n.4906G>C n.5366G>C | dbSNP gnomAD v4 |
7 | g.148811696C>T | CA271506 | EZH2 | n.3776G>A c.*938G>A (n.*938G>A) c.*772G>A (n.*772G>A) n.3595G>A n.2767G>A n.2192G>A n.2254G>A c.1876G>A (p.Val626Met) c.1744G>A (p.Val582Met) c.1861G>A (p.Val621Met) n.128G>A c.1708G>A (p.Val570Met) c.1834G>A (p.Val612Met) c.*1866G>A (n.*1866G>A) c.1885G>A (p.Val629Met) c.1858G>A (p.Val620Met) c.1732G>A (p.Val578Met) c.1900G>A (p.Val634Met) c.1873G>A (p.Val625Met) c.1852G>A (p.Val618Met) c.1849G>A (p.Val617Met) c.1810G>A (p.Val604Met) c.1783G>A (p.Val595Met) c.1777G>A (p.Val593Met) c.1774G>A (p.Val592Met) c.1768G>A (p.Val590Met) c.1759G>A (p.Val587Met) c.1756G>A (p.Val586Met) c.1642G>A (p.Val548Met) c.1549G>A (p.Val517Met) n.515+6611C>T n.722+6611C>T c.1837G>A (p.Val613Met) c.1534G>A (p.Val512Met) c.1762G>A (p.Val588Met) n.4250G>A n.4906G>A n.5366G>A | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
7 | g.148811697G>A | CA4547770 | EZH2 | n.3775C>T c.*937C>T (n.*937C>T) c.*771C>T (n.*771C>T) n.3594C>T n.2766C>T n.2191C>T n.2253C>T c.1875C>T (p.Asp625=) c.1743C>T (p.Asp581=) c.1860C>T (p.Asp620=) n.127C>T c.1707C>T (p.Asp569=) c.1833C>T (p.Asp611=) c.*1865C>T (n.*1865C>T) c.1884C>T (p.Asp628=) c.1857C>T (p.Asp619=) c.1731C>T (p.Asp577=) c.1899C>T (p.Asp633=) c.1872C>T (p.Asp624=) c.1851C>T (p.Asp617=) c.1848C>T (p.Asp616=) c.1809C>T (p.Asp603=) c.1782C>T (p.Asp594=) c.1776C>T (p.Asp592=) c.1773C>T (p.Asp591=) c.1767C>T (p.Asp589=) c.1758C>T (p.Asp586=) c.1755C>T (p.Asp585=) c.1641C>T (p.Asp547=) c.1548C>T (p.Asp516=) n.515+6612G>A n.722+6612G>A c.1836C>T (p.Asp612=) c.1533C>T (p.Asp511=) c.1761C>T (p.Asp587=) n.4249C>T n.4905C>T n.5365C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.148811697G>C | CA369713174 | EZH2 | n.3775C>G c.*937C>G (n.*937C>G) c.*771C>G (n.*771C>G) n.3594C>G n.2766C>G n.2191C>G n.2253C>G c.1875C>G (p.Asp625Glu) c.1743C>G (p.Asp581Glu) c.1860C>G (p.Asp620Glu) n.127C>G c.1707C>G (p.Asp569Glu) c.1833C>G (p.Asp611Glu) c.*1865C>G (n.*1865C>G) c.1884C>G (p.Asp628Glu) c.1857C>G (p.Asp619Glu) c.1731C>G (p.Asp577Glu) c.1899C>G (p.Asp633Glu) c.1872C>G (p.Asp624Glu) c.1851C>G (p.Asp617Glu) c.1848C>G (p.Asp616Glu) c.1809C>G (p.Asp603Glu) c.1782C>G (p.Asp594Glu) c.1776C>G (p.Asp592Glu) c.1773C>G (p.Asp591Glu) c.1767C>G (p.Asp589Glu) c.1758C>G (p.Asp586Glu) c.1755C>G (p.Asp585Glu) c.1641C>G (p.Asp547Glu) c.1548C>G (p.Asp516Glu) n.515+6612G>C n.722+6612G>C c.1836C>G (p.Asp612Glu) c.1533C>G (p.Asp511Glu) c.1761C>G (p.Asp587Glu) n.4249C>G n.4905C>G n.5365C>G | dbSNP gnomAD v2 |
7 | g.148811697G= | CA1751424163 | EZH2 | n.3775C= c.*937C= (n.*937C=) c.*771C= (n.*771C=) n.3594C= n.2766C= n.2191C= n.2253C= c.1875C= (p.Asp625=) c.1743C= (p.Asp581=) c.1860C= (p.Asp620=) n.127C= c.1707C= (p.Asp569=) c.1833C= (p.Asp611=) c.*1865C= (n.*1865C=) c.1884C= (p.Asp628=) c.1857C= (p.Asp619=) c.1731C= (p.Asp577=) c.1899C= (p.Asp633=) c.1872C= (p.Asp624=) c.1851C= (p.Asp617=) c.1848C= (p.Asp616=) c.1809C= (p.Asp603=) c.1782C= (p.Asp594=) c.1776C= (p.Asp592=) c.1773C= (p.Asp591=) c.1767C= (p.Asp589=) c.1758C= (p.Asp586=) c.1755C= (p.Asp585=) c.1641C= (p.Asp547=) c.1548C= (p.Asp516=) n.515+6612G= n.722+6612G= c.1836C= (p.Asp612=) c.1533C= (p.Asp511=) c.1761C= (p.Asp587=) n.4249C= n.4905C= n.5365C= | |
7 | g.148811697G>T | CA369713175 | EZH2 | n.3775C>A c.*937C>A (n.*937C>A) c.*771C>A (n.*771C>A) n.3594C>A n.2766C>A n.2191C>A n.2253C>A c.1875C>A (p.Asp625Glu) c.1743C>A (p.Asp581Glu) c.1860C>A (p.Asp620Glu) n.127C>A c.1707C>A (p.Asp569Glu) c.1833C>A (p.Asp611Glu) c.*1865C>A (n.*1865C>A) c.1884C>A (p.Asp628Glu) c.1857C>A (p.Asp619Glu) c.1731C>A (p.Asp577Glu) c.1899C>A (p.Asp633Glu) c.1872C>A (p.Asp624Glu) c.1851C>A (p.Asp617Glu) c.1848C>A (p.Asp616Glu) c.1809C>A (p.Asp603Glu) c.1782C>A (p.Asp594Glu) c.1776C>A (p.Asp592Glu) c.1773C>A (p.Asp591Glu) c.1767C>A (p.Asp589Glu) c.1758C>A (p.Asp586Glu) c.1755C>A (p.Asp585Glu) c.1641C>A (p.Asp547Glu) c.1548C>A (p.Asp516Glu) n.515+6612G>T n.722+6612G>T c.1836C>A (p.Asp612Glu) c.1533C>A (p.Asp511Glu) c.1761C>A (p.Asp587Glu) n.4249C>A n.4905C>A n.5365C>A | |
7 | g.148811698T>A | CA369713177 | EZH2 | n.3774A>T c.*936A>T (n.*936A>T) c.*770A>T (n.*770A>T) n.3593A>T n.2765A>T n.2190A>T n.2252A>T c.1874A>T (p.Asp625Val) c.1742A>T (p.Asp581Val) c.1859A>T (p.Asp620Val) n.126A>T c.1706A>T (p.Asp569Val) c.1832A>T (p.Asp611Val) c.*1864A>T (n.*1864A>T) c.1883A>T (p.Asp628Val) c.1856A>T (p.Asp619Val) c.1730A>T (p.Asp577Val) c.1898A>T (p.Asp633Val) c.1871A>T (p.Asp624Val) c.1850A>T (p.Asp617Val) c.1847A>T (p.Asp616Val) c.1808A>T (p.Asp603Val) c.1781A>T (p.Asp594Val) c.1775A>T (p.Asp592Val) c.1772A>T (p.Asp591Val) c.1766A>T (p.Asp589Val) c.1757A>T (p.Asp586Val) c.1754A>T (p.Asp585Val) c.1640A>T (p.Asp547Val) c.1547A>T (p.Asp516Val) n.515+6613T>A n.722+6613T>A c.1835A>T (p.Asp612Val) c.1532A>T (p.Asp511Val) c.1760A>T (p.Asp587Val) n.4248A>T n.4904A>T n.5364A>T | dbSNP |
7 | g.148811698T>C | CA369713178 | EZH2 | n.3774A>G c.*936A>G (n.*936A>G) c.*770A>G (n.*770A>G) n.3593A>G n.2765A>G n.2190A>G n.2252A>G c.1874A>G (p.Asp625Gly) c.1742A>G (p.Asp581Gly) c.1859A>G (p.Asp620Gly) n.126A>G c.1706A>G (p.Asp569Gly) c.1832A>G (p.Asp611Gly) c.*1864A>G (n.*1864A>G) c.1883A>G (p.Asp628Gly) c.1856A>G (p.Asp619Gly) c.1730A>G (p.Asp577Gly) c.1898A>G (p.Asp633Gly) c.1871A>G (p.Asp624Gly) c.1850A>G (p.Asp617Gly) c.1847A>G (p.Asp616Gly) c.1808A>G (p.Asp603Gly) c.1781A>G (p.Asp594Gly) c.1775A>G (p.Asp592Gly) c.1772A>G (p.Asp591Gly) c.1766A>G (p.Asp589Gly) c.1757A>G (p.Asp586Gly) c.1754A>G (p.Asp585Gly) c.1640A>G (p.Asp547Gly) c.1547A>G (p.Asp516Gly) n.515+6613T>C n.722+6613T>C c.1835A>G (p.Asp612Gly) c.1532A>G (p.Asp511Gly) c.1760A>G (p.Asp587Gly) n.4248A>G n.4904A>G n.5364A>G | dbSNP |
7 | g.148811698T>G | CA369713176 | EZH2 | n.3774A>C c.*936A>C (n.*936A>C) c.*770A>C (n.*770A>C) n.3593A>C n.2765A>C n.2190A>C n.2252A>C c.1874A>C (p.Asp625Ala) c.1742A>C (p.Asp581Ala) c.1859A>C (p.Asp620Ala) n.126A>C c.1706A>C (p.Asp569Ala) c.1832A>C (p.Asp611Ala) c.*1864A>C (n.*1864A>C) c.1883A>C (p.Asp628Ala) c.1856A>C (p.Asp619Ala) c.1730A>C (p.Asp577Ala) c.1898A>C (p.Asp633Ala) c.1871A>C (p.Asp624Ala) c.1850A>C (p.Asp617Ala) c.1847A>C (p.Asp616Ala) c.1808A>C (p.Asp603Ala) c.1781A>C (p.Asp594Ala) c.1775A>C (p.Asp592Ala) c.1772A>C (p.Asp591Ala) c.1766A>C (p.Asp589Ala) c.1757A>C (p.Asp586Ala) c.1754A>C (p.Asp585Ala) c.1640A>C (p.Asp547Ala) c.1547A>C (p.Asp516Ala) n.515+6613T>G n.722+6613T>G c.1835A>C (p.Asp612Ala) c.1532A>C (p.Asp511Ala) c.1760A>C (p.Asp587Ala) n.4248A>C n.4904A>C n.5364A>C | dbSNP |
7 | g.148811699C>A | CA369713179 | EZH2 | n.3773G>T c.*935G>T (n.*935G>T) c.*769G>T (n.*769G>T) n.3592G>T n.2764G>T n.2189G>T n.2251G>T c.1873G>T (p.Asp625Tyr) c.1741G>T (p.Asp581Tyr) c.1858G>T (p.Asp620Tyr) n.125G>T c.1705G>T (p.Asp569Tyr) c.1831G>T (p.Asp611Tyr) c.*1863G>T (n.*1863G>T) c.1882G>T (p.Asp628Tyr) c.1855G>T (p.Asp619Tyr) c.1729G>T (p.Asp577Tyr) c.1897G>T (p.Asp633Tyr) c.1870G>T (p.Asp624Tyr) c.1849G>T (p.Asp617Tyr) c.1846G>T (p.Asp616Tyr) c.1807G>T (p.Asp603Tyr) c.1780G>T (p.Asp594Tyr) c.1774G>T (p.Asp592Tyr) c.1771G>T (p.Asp591Tyr) c.1765G>T (p.Asp589Tyr) c.1756G>T (p.Asp586Tyr) c.1753G>T (p.Asp585Tyr) c.1639G>T (p.Asp547Tyr) c.1546G>T (p.Asp516Tyr) n.515+6614C>A n.722+6614C>A c.1834G>T (p.Asp612Tyr) c.1531G>T (p.Asp511Tyr) c.1759G>T (p.Asp587Tyr) n.4247G>T n.4903G>T n.5363G>T | |
7 | g.148811699C>G | CA369713180 | EZH2 | n.3773G>C c.*935G>C (n.*935G>C) c.*769G>C (n.*769G>C) n.3592G>C n.2764G>C n.2189G>C n.2251G>C c.1873G>C (p.Asp625His) c.1741G>C (p.Asp581His) c.1858G>C (p.Asp620His) n.125G>C c.1705G>C (p.Asp569His) c.1831G>C (p.Asp611His) c.*1863G>C (n.*1863G>C) c.1882G>C (p.Asp628His) c.1855G>C (p.Asp619His) c.1729G>C (p.Asp577His) c.1897G>C (p.Asp633His) c.1870G>C (p.Asp624His) c.1849G>C (p.Asp617His) c.1846G>C (p.Asp616His) c.1807G>C (p.Asp603His) c.1780G>C (p.Asp594His) c.1774G>C (p.Asp592His) c.1771G>C (p.Asp591His) c.1765G>C (p.Asp589His) c.1756G>C (p.Asp586His) c.1753G>C (p.Asp585His) c.1639G>C (p.Asp547His) c.1546G>C (p.Asp516His) n.515+6614C>G n.722+6614C>G c.1834G>C (p.Asp612His) c.1531G>C (p.Asp511His) c.1759G>C (p.Asp587His) n.4247G>C n.4903G>C n.5363G>C | dbSNP |
7 | g.148811699C>T | CA369713181 | EZH2 | n.3773G>A c.*935G>A (n.*935G>A) c.*769G>A (n.*769G>A) n.3592G>A n.2764G>A n.2189G>A n.2251G>A c.1873G>A (p.Asp625Asn) c.1741G>A (p.Asp581Asn) c.1858G>A (p.Asp620Asn) n.125G>A c.1705G>A (p.Asp569Asn) c.1831G>A (p.Asp611Asn) c.*1863G>A (n.*1863G>A) c.1882G>A (p.Asp628Asn) c.1855G>A (p.Asp619Asn) c.1729G>A (p.Asp577Asn) c.1897G>A (p.Asp633Asn) c.1870G>A (p.Asp624Asn) c.1849G>A (p.Asp617Asn) c.1846G>A (p.Asp616Asn) c.1807G>A (p.Asp603Asn) c.1780G>A (p.Asp594Asn) c.1774G>A (p.Asp592Asn) c.1771G>A (p.Asp591Asn) c.1765G>A (p.Asp589Asn) c.1756G>A (p.Asp586Asn) c.1753G>A (p.Asp585Asn) c.1639G>A (p.Asp547Asn) c.1546G>A (p.Asp516Asn) n.515+6614C>T n.722+6614C>T c.1834G>A (p.Asp612Asn) c.1531G>A (p.Asp511Asn) c.1759G>A (p.Asp587Asn) n.4247G>A n.4903G>A n.5363G>A | dbSNP |
7 | g.148811700A= | CA1751424164 | EZH2 | n.3772T= c.*934T= (n.*934T=) c.*768T= (n.*768T=) n.3591T= n.2763T= n.2188T= n.2250T= c.1872T= (p.Ser624=) c.1740T= (p.Ser580=) c.1857T= (p.Ser619=) n.124T= c.1704T= (p.Ser568=) c.1830T= (p.Ser610=) c.*1862T= (n.*1862T=) c.1881T= (p.Ser627=) c.1854T= (p.Ser618=) c.1728T= (p.Ser576=) c.1896T= (p.Ser632=) c.1869T= (p.Ser623=) c.1848T= (p.Ser616=) c.1845T= (p.Ser615=) c.1806T= (p.Ser602=) c.1779T= (p.Ser593=) c.1773T= (p.Ser591=) c.1770T= (p.Ser590=) c.1764T= (p.Ser588=) c.1755T= (p.Ser585=) c.1752T= (p.Ser584=) c.1638T= (p.Ser546=) c.1545T= (p.Ser515=) n.515+6615A= n.722+6615A= c.1833T= (p.Ser611=) c.1530T= (p.Ser510=) c.1758T= (p.Ser586=) n.4246T= n.4902T= n.5362T= | |
7 | g.148811700A>C | CA458345850 | EZH2 | n.3772T>G c.*934T>G (n.*934T>G) c.*768T>G (n.*768T>G) n.3591T>G n.2763T>G n.2188T>G n.2250T>G c.1872T>G (p.Ser624=) c.1740T>G (p.Ser580=) c.1857T>G (p.Ser619=) n.124T>G c.1704T>G (p.Ser568=) c.1830T>G (p.Ser610=) c.*1862T>G (n.*1862T>G) c.1881T>G (p.Ser627=) c.1854T>G (p.Ser618=) c.1728T>G (p.Ser576=) c.1896T>G (p.Ser632=) c.1869T>G (p.Ser623=) c.1848T>G (p.Ser616=) c.1845T>G (p.Ser615=) c.1806T>G (p.Ser602=) c.1779T>G (p.Ser593=) c.1773T>G (p.Ser591=) c.1770T>G (p.Ser590=) c.1764T>G (p.Ser588=) c.1755T>G (p.Ser585=) c.1752T>G (p.Ser584=) c.1638T>G (p.Ser546=) c.1545T>G (p.Ser515=) n.515+6615A>C n.722+6615A>C c.1833T>G (p.Ser611=) c.1530T>G (p.Ser510=) c.1758T>G (p.Ser586=) n.4246T>G n.4902T>G n.5362T>G | |
7 | g.148811700A>G | CA458345852 | EZH2 | n.3772T>C c.*934T>C (n.*934T>C) c.*768T>C (n.*768T>C) n.3591T>C n.2763T>C n.2188T>C n.2250T>C c.1872T>C (p.Ser624=) c.1740T>C (p.Ser580=) c.1857T>C (p.Ser619=) n.124T>C c.1704T>C (p.Ser568=) c.1830T>C (p.Ser610=) c.*1862T>C (n.*1862T>C) c.1881T>C (p.Ser627=) c.1854T>C (p.Ser618=) c.1728T>C (p.Ser576=) c.1896T>C (p.Ser632=) c.1869T>C (p.Ser623=) c.1848T>C (p.Ser616=) c.1845T>C (p.Ser615=) c.1806T>C (p.Ser602=) c.1779T>C (p.Ser593=) c.1773T>C (p.Ser591=) c.1770T>C (p.Ser590=) c.1764T>C (p.Ser588=) c.1755T>C (p.Ser585=) c.1752T>C (p.Ser584=) c.1638T>C (p.Ser546=) c.1545T>C (p.Ser515=) n.515+6615A>G n.722+6615A>G c.1833T>C (p.Ser611=) c.1530T>C (p.Ser510=) c.1758T>C (p.Ser586=) n.4246T>C n.4902T>C n.5362T>C | dbSNP |
7 | g.148811700A>T | CA458345854 | EZH2 | n.3772T>A c.*934T>A (n.*934T>A) c.*768T>A (n.*768T>A) n.3591T>A n.2763T>A n.2188T>A n.2250T>A c.1872T>A (p.Ser624=) c.1740T>A (p.Ser580=) c.1857T>A (p.Ser619=) n.124T>A c.1704T>A (p.Ser568=) c.1830T>A (p.Ser610=) c.*1862T>A (n.*1862T>A) c.1881T>A (p.Ser627=) c.1854T>A (p.Ser618=) c.1728T>A (p.Ser576=) c.1896T>A (p.Ser632=) c.1869T>A (p.Ser623=) c.1848T>A (p.Ser616=) c.1845T>A (p.Ser615=) c.1806T>A (p.Ser602=) c.1779T>A (p.Ser593=) c.1773T>A (p.Ser591=) c.1770T>A (p.Ser590=) c.1764T>A (p.Ser588=) c.1755T>A (p.Ser585=) c.1752T>A (p.Ser584=) c.1638T>A (p.Ser546=) c.1545T>A (p.Ser515=) n.515+6615A>T n.722+6615A>T c.1833T>A (p.Ser611=) c.1530T>A (p.Ser510=) c.1758T>A (p.Ser586=) n.4246T>A n.4902T>A n.5362T>A | dbSNP gnomAD v2 gnomAD v4 |
7 | g.148811701G>A | CA369713182 | EZH2 | n.3771C>T c.*933C>T (n.*933C>T) c.*767C>T (n.*767C>T) n.3590C>T n.2762C>T n.2187C>T n.2249C>T c.1871C>T (p.Ser624Phe) c.1739C>T (p.Ser580Phe) c.1856C>T (p.Ser619Phe) n.123C>T c.1703C>T (p.Ser568Phe) c.1829C>T (p.Ser610Phe) c.*1861C>T (n.*1861C>T) c.1880C>T (p.Ser627Phe) c.1853C>T (p.Ser618Phe) c.1727C>T (p.Ser576Phe) c.1895C>T (p.Ser632Phe) c.1868C>T (p.Ser623Phe) c.1847C>T (p.Ser616Phe) c.1844C>T (p.Ser615Phe) c.1805C>T (p.Ser602Phe) c.1778C>T (p.Ser593Phe) c.1772C>T (p.Ser591Phe) c.1769C>T (p.Ser590Phe) c.1763C>T (p.Ser588Phe) c.1754C>T (p.Ser585Phe) c.1751C>T (p.Ser584Phe) c.1637C>T (p.Ser546Phe) c.1544C>T (p.Ser515Phe) n.515+6616G>A n.722+6616G>A c.1832C>T (p.Ser611Phe) c.1529C>T (p.Ser510Phe) c.1757C>T (p.Ser586Phe) n.4245C>T n.4901C>T n.5361C>T | dbSNP |
7 | g.148811701G>C | CA369713183 | EZH2 | n.3771C>G c.*933C>G (n.*933C>G) c.*767C>G (n.*767C>G) n.3590C>G n.2762C>G n.2187C>G n.2249C>G c.1871C>G (p.Ser624Cys) c.1739C>G (p.Ser580Cys) c.1856C>G (p.Ser619Cys) n.123C>G c.1703C>G (p.Ser568Cys) c.1829C>G (p.Ser610Cys) c.*1861C>G (n.*1861C>G) c.1880C>G (p.Ser627Cys) c.1853C>G (p.Ser618Cys) c.1727C>G (p.Ser576Cys) c.1895C>G (p.Ser632Cys) c.1868C>G (p.Ser623Cys) c.1847C>G (p.Ser616Cys) c.1844C>G (p.Ser615Cys) c.1805C>G (p.Ser602Cys) c.1778C>G (p.Ser593Cys) c.1772C>G (p.Ser591Cys) c.1769C>G (p.Ser590Cys) c.1763C>G (p.Ser588Cys) c.1754C>G (p.Ser585Cys) c.1751C>G (p.Ser584Cys) c.1637C>G (p.Ser546Cys) c.1544C>G (p.Ser515Cys) n.515+6616G>C n.722+6616G>C c.1832C>G (p.Ser611Cys) c.1529C>G (p.Ser510Cys) c.1757C>G (p.Ser586Cys) n.4245C>G n.4901C>G n.5361C>G | dbSNP |
7 | g.148811701G>T | CA369713184 | EZH2 | n.3771C>A c.*933C>A (n.*933C>A) c.*767C>A (n.*767C>A) n.3590C>A n.2762C>A n.2187C>A n.2249C>A c.1871C>A (p.Ser624Tyr) c.1739C>A (p.Ser580Tyr) c.1856C>A (p.Ser619Tyr) n.123C>A c.1703C>A (p.Ser568Tyr) c.1829C>A (p.Ser610Tyr) c.*1861C>A (n.*1861C>A) c.1880C>A (p.Ser627Tyr) c.1853C>A (p.Ser618Tyr) c.1727C>A (p.Ser576Tyr) c.1895C>A (p.Ser632Tyr) c.1868C>A (p.Ser623Tyr) c.1847C>A (p.Ser616Tyr) c.1844C>A (p.Ser615Tyr) c.1805C>A (p.Ser602Tyr) c.1778C>A (p.Ser593Tyr) c.1772C>A (p.Ser591Tyr) c.1769C>A (p.Ser590Tyr) c.1763C>A (p.Ser588Tyr) c.1754C>A (p.Ser585Tyr) c.1751C>A (p.Ser584Tyr) c.1637C>A (p.Ser546Tyr) c.1544C>A (p.Ser515Tyr) n.515+6616G>T n.722+6616G>T c.1832C>A (p.Ser611Tyr) c.1529C>A (p.Ser510Tyr) c.1757C>A (p.Ser586Tyr) n.4245C>A n.4901C>A n.5361C>A | gnomAD v4 |
7 | g.148811702A>C | CA369713187 | EZH2 | n.3770T>G c.*932T>G (n.*932T>G) c.*766T>G (n.*766T>G) n.3589T>G n.2761T>G n.2186T>G n.2248T>G c.1870T>G (p.Ser624Ala) c.1738T>G (p.Ser580Ala) c.1855T>G (p.Ser619Ala) n.122T>G c.1702T>G (p.Ser568Ala) c.1828T>G (p.Ser610Ala) c.*1860T>G (n.*1860T>G) c.1879T>G (p.Ser627Ala) c.1852T>G (p.Ser618Ala) c.1726T>G (p.Ser576Ala) c.1894T>G (p.Ser632Ala) c.1867T>G (p.Ser623Ala) c.1846T>G (p.Ser616Ala) c.1843T>G (p.Ser615Ala) c.1804T>G (p.Ser602Ala) c.1777T>G (p.Ser593Ala) c.1771T>G (p.Ser591Ala) c.1768T>G (p.Ser590Ala) c.1762T>G (p.Ser588Ala) c.1753T>G (p.Ser585Ala) c.1750T>G (p.Ser584Ala) c.1636T>G (p.Ser546Ala) c.1543T>G (p.Ser515Ala) n.515+6617A>C n.722+6617A>C c.1831T>G (p.Ser611Ala) c.1528T>G (p.Ser510Ala) c.1756T>G (p.Ser586Ala) n.4244T>G n.4900T>G n.5360T>G | |
7 | g.148811702A>G | CA369713185 | EZH2 | n.3770T>C c.*932T>C (n.*932T>C) c.*766T>C (n.*766T>C) n.3589T>C n.2761T>C n.2186T>C n.2248T>C c.1870T>C (p.Ser624Pro) c.1738T>C (p.Ser580Pro) c.1855T>C (p.Ser619Pro) n.122T>C c.1702T>C (p.Ser568Pro) c.1828T>C (p.Ser610Pro) c.*1860T>C (n.*1860T>C) c.1879T>C (p.Ser627Pro) c.1852T>C (p.Ser618Pro) c.1726T>C (p.Ser576Pro) c.1894T>C (p.Ser632Pro) c.1867T>C (p.Ser623Pro) c.1846T>C (p.Ser616Pro) c.1843T>C (p.Ser615Pro) c.1804T>C (p.Ser602Pro) c.1777T>C (p.Ser593Pro) c.1771T>C (p.Ser591Pro) c.1768T>C (p.Ser590Pro) c.1762T>C (p.Ser588Pro) c.1753T>C (p.Ser585Pro) c.1750T>C (p.Ser584Pro) c.1636T>C (p.Ser546Pro) c.1543T>C (p.Ser515Pro) n.515+6617A>G n.722+6617A>G c.1831T>C (p.Ser611Pro) c.1528T>C (p.Ser510Pro) c.1756T>C (p.Ser586Pro) n.4244T>C n.4900T>C n.5360T>C | |
7 | g.148811702A>T | CA369713186 | EZH2 | n.3770T>A c.*932T>A (n.*932T>A) c.*766T>A (n.*766T>A) n.3589T>A n.2761T>A n.2186T>A n.2248T>A c.1870T>A (p.Ser624Thr) c.1738T>A (p.Ser580Thr) c.1855T>A (p.Ser619Thr) n.122T>A c.1702T>A (p.Ser568Thr) c.1828T>A (p.Ser610Thr) c.*1860T>A (n.*1860T>A) c.1879T>A (p.Ser627Thr) c.1852T>A (p.Ser618Thr) c.1726T>A (p.Ser576Thr) c.1894T>A (p.Ser632Thr) c.1867T>A (p.Ser623Thr) c.1846T>A (p.Ser616Thr) c.1843T>A (p.Ser615Thr) c.1804T>A (p.Ser602Thr) c.1777T>A (p.Ser593Thr) c.1771T>A (p.Ser591Thr) c.1768T>A (p.Ser590Thr) c.1762T>A (p.Ser588Thr) c.1753T>A (p.Ser585Thr) c.1750T>A (p.Ser584Thr) c.1636T>A (p.Ser546Thr) c.1543T>A (p.Ser515Thr) n.515+6617A>T n.722+6617A>T c.1831T>A (p.Ser611Thr) c.1528T>A (p.Ser510Thr) c.1756T>A (p.Ser586Thr) n.4244T>A n.4900T>A n.5360T>A | |
7 | g.148811703T>A | CA458345856 | EZH2 | n.3769A>T c.*931A>T (n.*931A>T) c.*765A>T (n.*765A>T) n.3588A>T n.2760A>T n.2185A>T n.2247A>T c.1869A>T (p.Pro623=) c.1737A>T (p.Pro579=) c.1854A>T (p.Pro618=) n.121A>T c.1701A>T (p.Pro567=) c.1827A>T (p.Pro609=) c.*1859A>T (n.*1859A>T) c.1878A>T (p.Pro626=) c.1851A>T (p.Pro617=) c.1725A>T (p.Pro575=) c.1893A>T (p.Pro631=) c.1866A>T (p.Pro622=) c.1845A>T (p.Pro615=) c.1842A>T (p.Pro614=) c.1803A>T (p.Pro601=) c.1776A>T (p.Pro592=) c.1770A>T (p.Pro590=) c.1767A>T (p.Pro589=) c.1761A>T (p.Pro587=) c.1752A>T (p.Pro584=) c.1749A>T (p.Pro583=) c.1635A>T (p.Pro545=) c.1542A>T (p.Pro514=) n.515+6618T>A n.722+6618T>A c.1830A>T (p.Pro610=) c.1527A>T (p.Pro509=) c.1755A>T (p.Pro585=) n.4243A>T n.4899A>T n.5359A>T | |
7 | g.148811703T>C | CA458345857 | EZH2 | n.3769A>G c.*931A>G (n.*931A>G) c.*765A>G (n.*765A>G) n.3588A>G n.2760A>G n.2185A>G n.2247A>G c.1869A>G (p.Pro623=) c.1737A>G (p.Pro579=) c.1854A>G (p.Pro618=) n.121A>G c.1701A>G (p.Pro567=) c.1827A>G (p.Pro609=) c.*1859A>G (n.*1859A>G) c.1878A>G (p.Pro626=) c.1851A>G (p.Pro617=) c.1725A>G (p.Pro575=) c.1893A>G (p.Pro631=) c.1866A>G (p.Pro622=) c.1845A>G (p.Pro615=) c.1842A>G (p.Pro614=) c.1803A>G (p.Pro601=) c.1776A>G (p.Pro592=) c.1770A>G (p.Pro590=) c.1767A>G (p.Pro589=) c.1761A>G (p.Pro587=) c.1752A>G (p.Pro584=) c.1749A>G (p.Pro583=) c.1635A>G (p.Pro545=) c.1542A>G (p.Pro514=) n.515+6618T>C n.722+6618T>C c.1830A>G (p.Pro610=) c.1527A>G (p.Pro509=) c.1755A>G (p.Pro585=) n.4243A>G n.4899A>G n.5359A>G | gnomAD v4 |
7 | g.148811703T>G | CA458345858 | EZH2 | n.3769A>C c.*931A>C (n.*931A>C) c.*765A>C (n.*765A>C) n.3588A>C n.2760A>C n.2185A>C n.2247A>C c.1869A>C (p.Pro623=) c.1737A>C (p.Pro579=) c.1854A>C (p.Pro618=) n.121A>C c.1701A>C (p.Pro567=) c.1827A>C (p.Pro609=) c.*1859A>C (n.*1859A>C) c.1878A>C (p.Pro626=) c.1851A>C (p.Pro617=) c.1725A>C (p.Pro575=) c.1893A>C (p.Pro631=) c.1866A>C (p.Pro622=) c.1845A>C (p.Pro615=) c.1842A>C (p.Pro614=) c.1803A>C (p.Pro601=) c.1776A>C (p.Pro592=) c.1770A>C (p.Pro590=) c.1767A>C (p.Pro589=) c.1761A>C (p.Pro587=) c.1752A>C (p.Pro584=) c.1749A>C (p.Pro583=) c.1635A>C (p.Pro545=) c.1542A>C (p.Pro514=) n.515+6618T>G n.722+6618T>G c.1830A>C (p.Pro610=) c.1527A>C (p.Pro509=) c.1755A>C (p.Pro585=) n.4243A>C n.4899A>C n.5359A>C | |
7 | g.148811704G>A | CA369713188 | EZH2 | n.3768C>T c.*930C>T (n.*930C>T) c.*764C>T (n.*764C>T) n.3587C>T n.2759C>T n.2184C>T n.2246C>T c.1868C>T (p.Pro623Leu) c.1736C>T (p.Pro579Leu) c.1853C>T (p.Pro618Leu) n.120C>T c.1700C>T (p.Pro567Leu) c.1826C>T (p.Pro609Leu) c.*1858C>T (n.*1858C>T) c.1877C>T (p.Pro626Leu) c.1850C>T (p.Pro617Leu) c.1724C>T (p.Pro575Leu) c.1892C>T (p.Pro631Leu) c.1865C>T (p.Pro622Leu) c.1844C>T (p.Pro615Leu) c.1841C>T (p.Pro614Leu) c.1802C>T (p.Pro601Leu) c.1775C>T (p.Pro592Leu) c.1769C>T (p.Pro590Leu) c.1766C>T (p.Pro589Leu) c.1760C>T (p.Pro587Leu) c.1751C>T (p.Pro584Leu) c.1748C>T (p.Pro583Leu) c.1634C>T (p.Pro545Leu) c.1541C>T (p.Pro514Leu) n.515+6619G>A n.722+6619G>A c.1829C>T (p.Pro610Leu) c.1526C>T (p.Pro509Leu) c.1754C>T (p.Pro585Leu) n.4242C>T n.4898C>T n.5358C>T | dbSNP |
7 | g.148811704G>C | CA369713189 | EZH2 | n.3768C>G c.*930C>G (n.*930C>G) c.*764C>G (n.*764C>G) n.3587C>G n.2759C>G n.2184C>G n.2246C>G c.1868C>G (p.Pro623Arg) c.1736C>G (p.Pro579Arg) c.1853C>G (p.Pro618Arg) n.120C>G c.1700C>G (p.Pro567Arg) c.1826C>G (p.Pro609Arg) c.*1858C>G (n.*1858C>G) c.1877C>G (p.Pro626Arg) c.1850C>G (p.Pro617Arg) c.1724C>G (p.Pro575Arg) c.1892C>G (p.Pro631Arg) c.1865C>G (p.Pro622Arg) c.1844C>G (p.Pro615Arg) c.1841C>G (p.Pro614Arg) c.1802C>G (p.Pro601Arg) c.1775C>G (p.Pro592Arg) c.1769C>G (p.Pro590Arg) c.1766C>G (p.Pro589Arg) c.1760C>G (p.Pro587Arg) c.1751C>G (p.Pro584Arg) c.1748C>G (p.Pro583Arg) c.1634C>G (p.Pro545Arg) c.1541C>G (p.Pro514Arg) n.515+6619G>C n.722+6619G>C c.1829C>G (p.Pro610Arg) c.1526C>G (p.Pro509Arg) c.1754C>G (p.Pro585Arg) n.4242C>G n.4898C>G n.5358C>G | dbSNP |
7 | g.148811704G>T | CA369713190 | EZH2 | n.3768C>A c.*930C>A (n.*930C>A) c.*764C>A (n.*764C>A) n.3587C>A n.2759C>A n.2184C>A n.2246C>A c.1868C>A (p.Pro623Gln) c.1736C>A (p.Pro579Gln) c.1853C>A (p.Pro618Gln) n.120C>A c.1700C>A (p.Pro567Gln) c.1826C>A (p.Pro609Gln) c.*1858C>A (n.*1858C>A) c.1877C>A (p.Pro626Gln) c.1850C>A (p.Pro617Gln) c.1724C>A (p.Pro575Gln) c.1892C>A (p.Pro631Gln) c.1865C>A (p.Pro622Gln) c.1844C>A (p.Pro615Gln) c.1841C>A (p.Pro614Gln) c.1802C>A (p.Pro601Gln) c.1775C>A (p.Pro592Gln) c.1769C>A (p.Pro590Gln) c.1766C>A (p.Pro589Gln) c.1760C>A (p.Pro587Gln) c.1751C>A (p.Pro584Gln) c.1748C>A (p.Pro583Gln) c.1634C>A (p.Pro545Gln) c.1541C>A (p.Pro514Gln) n.515+6619G>T n.722+6619G>T c.1829C>A (p.Pro610Gln) c.1526C>A (p.Pro509Gln) c.1754C>A (p.Pro585Gln) n.4242C>A n.4898C>A n.5358C>A | |
7 | g.148811705G>A | CA369713191 | EZH2 | n.3767C>T c.*929C>T (n.*929C>T) c.*763C>T (n.*763C>T) n.3586C>T n.2758C>T n.2183C>T n.2245C>T c.1867C>T (p.Pro623Ser) c.1735C>T (p.Pro579Ser) c.1852C>T (p.Pro618Ser) n.119C>T c.1699C>T (p.Pro567Ser) c.1825C>T (p.Pro609Ser) c.*1857C>T (n.*1857C>T) c.1876C>T (p.Pro626Ser) c.1849C>T (p.Pro617Ser) c.1723C>T (p.Pro575Ser) c.1891C>T (p.Pro631Ser) c.1864C>T (p.Pro622Ser) c.1843C>T (p.Pro615Ser) c.1840C>T (p.Pro614Ser) c.1801C>T (p.Pro601Ser) c.1774C>T (p.Pro592Ser) c.1768C>T (p.Pro590Ser) c.1765C>T (p.Pro589Ser) c.1759C>T (p.Pro587Ser) c.1750C>T (p.Pro584Ser) c.1747C>T (p.Pro583Ser) c.1633C>T (p.Pro545Ser) c.1540C>T (p.Pro514Ser) n.515+6620G>A n.722+6620G>A c.1828C>T (p.Pro610Ser) c.1525C>T (p.Pro509Ser) c.1753C>T (p.Pro585Ser) n.4241C>T n.4897C>T n.5357C>T | dbSNP gnomAD v4 |
7 | g.148811705G>C | CA369713192 | EZH2 | n.3767C>G c.*929C>G (n.*929C>G) c.*763C>G (n.*763C>G) n.3586C>G n.2758C>G n.2183C>G n.2245C>G c.1867C>G (p.Pro623Ala) c.1735C>G (p.Pro579Ala) c.1852C>G (p.Pro618Ala) n.119C>G c.1699C>G (p.Pro567Ala) c.1825C>G (p.Pro609Ala) c.*1857C>G (n.*1857C>G) c.1876C>G (p.Pro626Ala) c.1849C>G (p.Pro617Ala) c.1723C>G (p.Pro575Ala) c.1891C>G (p.Pro631Ala) c.1864C>G (p.Pro622Ala) c.1843C>G (p.Pro615Ala) c.1840C>G (p.Pro614Ala) c.1801C>G (p.Pro601Ala) c.1774C>G (p.Pro592Ala) c.1768C>G (p.Pro590Ala) c.1765C>G (p.Pro589Ala) c.1759C>G (p.Pro587Ala) c.1750C>G (p.Pro584Ala) c.1747C>G (p.Pro583Ala) c.1633C>G (p.Pro545Ala) c.1540C>G (p.Pro514Ala) n.515+6620G>C n.722+6620G>C c.1828C>G (p.Pro610Ala) c.1525C>G (p.Pro509Ala) c.1753C>G (p.Pro585Ala) n.4241C>G n.4897C>G n.5357C>G | dbSNP |
7 | g.148811705G>T | CA369713193 | EZH2 | n.3767C>A c.*929C>A (n.*929C>A) c.*763C>A (n.*763C>A) n.3586C>A n.2758C>A n.2183C>A n.2245C>A c.1867C>A (p.Pro623Thr) c.1735C>A (p.Pro579Thr) c.1852C>A (p.Pro618Thr) n.119C>A c.1699C>A (p.Pro567Thr) c.1825C>A (p.Pro609Thr) c.*1857C>A (n.*1857C>A) c.1876C>A (p.Pro626Thr) c.1849C>A (p.Pro617Thr) c.1723C>A (p.Pro575Thr) c.1891C>A (p.Pro631Thr) c.1864C>A (p.Pro622Thr) c.1843C>A (p.Pro615Thr) c.1840C>A (p.Pro614Thr) c.1801C>A (p.Pro601Thr) c.1774C>A (p.Pro592Thr) c.1768C>A (p.Pro590Thr) c.1765C>A (p.Pro589Thr) c.1759C>A (p.Pro587Thr) c.1750C>A (p.Pro584Thr) c.1747C>A (p.Pro583Thr) c.1633C>A (p.Pro545Thr) c.1540C>A (p.Pro514Thr) n.515+6620G>T n.722+6620G>T c.1828C>A (p.Pro610Thr) c.1525C>A (p.Pro509Thr) c.1753C>A (p.Pro585Thr) n.4241C>A n.4897C>A n.5357C>A | |
7 | g.148811706T>A | CA458345861 | EZH2 | n.3766A>T c.*928A>T (n.*928A>T) c.*762A>T (n.*762A>T) n.3585A>T n.2757A>T n.2182A>T n.2244A>T c.1866A>T (p.Ala622=) c.1734A>T (p.Ala578=) c.1851A>T (p.Ala617=) n.118A>T c.1698A>T (p.Ala566=) c.1824A>T (p.Ala608=) c.*1856A>T (n.*1856A>T) c.1875A>T (p.Ala625=) c.1848A>T (p.Ala616=) c.1722A>T (p.Ala574=) c.1890A>T (p.Ala630=) c.1863A>T (p.Ala621=) c.1842A>T (p.Ala614=) c.1839A>T (p.Ala613=) c.1800A>T (p.Ala600=) c.1773A>T (p.Ala591=) c.1767A>T (p.Ala589=) c.1764A>T (p.Ala588=) c.1758A>T (p.Ala586=) c.1749A>T (p.Ala583=) c.1746A>T (p.Ala582=) c.1632A>T (p.Ala544=) c.1539A>T (p.Ala513=) n.515+6621T>A n.722+6621T>A c.1827A>T (p.Ala609=) c.1524A>T (p.Ala508=) c.1752A>T (p.Ala584=) n.4240A>T n.4896A>T n.5356A>T | dbSNP |
7 | g.148811706T>C | CA458345862 | EZH2 | n.3766A>G c.*928A>G (n.*928A>G) c.*762A>G (n.*762A>G) n.3585A>G n.2757A>G n.2182A>G n.2244A>G c.1866A>G (p.Ala622=) c.1734A>G (p.Ala578=) c.1851A>G (p.Ala617=) n.118A>G c.1698A>G (p.Ala566=) c.1824A>G (p.Ala608=) c.*1856A>G (n.*1856A>G) c.1875A>G (p.Ala625=) c.1848A>G (p.Ala616=) c.1722A>G (p.Ala574=) c.1890A>G (p.Ala630=) c.1863A>G (p.Ala621=) c.1842A>G (p.Ala614=) c.1839A>G (p.Ala613=) c.1800A>G (p.Ala600=) c.1773A>G (p.Ala591=) c.1767A>G (p.Ala589=) c.1764A>G (p.Ala588=) c.1758A>G (p.Ala586=) c.1749A>G (p.Ala583=) c.1746A>G (p.Ala582=) c.1632A>G (p.Ala544=) c.1539A>G (p.Ala513=) n.515+6621T>C n.722+6621T>C c.1827A>G (p.Ala609=) c.1524A>G (p.Ala508=) c.1752A>G (p.Ala584=) n.4240A>G n.4896A>G n.5356A>G | |
7 | g.148811706T>G | CA458345863 | EZH2 | n.3766A>C c.*928A>C (n.*928A>C) c.*762A>C (n.*762A>C) n.3585A>C n.2757A>C n.2182A>C n.2244A>C c.1866A>C (p.Ala622=) c.1734A>C (p.Ala578=) c.1851A>C (p.Ala617=) n.118A>C c.1698A>C (p.Ala566=) c.1824A>C (p.Ala608=) c.*1856A>C (n.*1856A>C) c.1875A>C (p.Ala625=) c.1848A>C (p.Ala616=) c.1722A>C (p.Ala574=) c.1890A>C (p.Ala630=) c.1863A>C (p.Ala621=) c.1842A>C (p.Ala614=) c.1839A>C (p.Ala613=) c.1800A>C (p.Ala600=) c.1773A>C (p.Ala591=) c.1767A>C (p.Ala589=) c.1764A>C (p.Ala588=) c.1758A>C (p.Ala586=) c.1749A>C (p.Ala583=) c.1746A>C (p.Ala582=) c.1632A>C (p.Ala544=) c.1539A>C (p.Ala513=) n.515+6621T>G n.722+6621T>G c.1827A>C (p.Ala609=) c.1524A>C (p.Ala508=) c.1752A>C (p.Ala584=) n.4240A>C n.4896A>C n.5356A>C | |
7 | g.148811707G>A | CA369713195 | EZH2 | n.3765C>T c.*927C>T (n.*927C>T) c.*761C>T (n.*761C>T) n.3584C>T n.2756C>T n.2181C>T n.2243C>T c.1865C>T (p.Ala622Val) c.1733C>T (p.Ala578Val) c.1850C>T (p.Ala617Val) n.117C>T c.1697C>T (p.Ala566Val) c.1823C>T (p.Ala608Val) c.*1855C>T (n.*1855C>T) c.1874C>T (p.Ala625Val) c.1847C>T (p.Ala616Val) c.1721C>T (p.Ala574Val) c.1889C>T (p.Ala630Val) c.1862C>T (p.Ala621Val) c.1841C>T (p.Ala614Val) c.1838C>T (p.Ala613Val) c.1799C>T (p.Ala600Val) c.1772C>T (p.Ala591Val) c.1766C>T (p.Ala589Val) c.1763C>T (p.Ala588Val) c.1757C>T (p.Ala586Val) c.1748C>T (p.Ala583Val) c.1745C>T (p.Ala582Val) c.1631C>T (p.Ala544Val) c.1538C>T (p.Ala513Val) n.515+6622G>A n.722+6622G>A c.1826C>T (p.Ala609Val) c.1523C>T (p.Ala508Val) c.1751C>T (p.Ala584Val) n.4239C>T n.4895C>T n.5355C>T | gnomAD v4 |
7 | g.148811707G>C | CA369713196 | EZH2 | n.3765C>G c.*927C>G (n.*927C>G) c.*761C>G (n.*761C>G) n.3584C>G n.2756C>G n.2181C>G n.2243C>G c.1865C>G (p.Ala622Gly) c.1733C>G (p.Ala578Gly) c.1850C>G (p.Ala617Gly) n.117C>G c.1697C>G (p.Ala566Gly) c.1823C>G (p.Ala608Gly) c.*1855C>G (n.*1855C>G) c.1874C>G (p.Ala625Gly) c.1847C>G (p.Ala616Gly) c.1721C>G (p.Ala574Gly) c.1889C>G (p.Ala630Gly) c.1862C>G (p.Ala621Gly) c.1841C>G (p.Ala614Gly) c.1838C>G (p.Ala613Gly) c.1799C>G (p.Ala600Gly) c.1772C>G (p.Ala591Gly) c.1766C>G (p.Ala589Gly) c.1763C>G (p.Ala588Gly) c.1757C>G (p.Ala586Gly) c.1748C>G (p.Ala583Gly) c.1745C>G (p.Ala582Gly) c.1631C>G (p.Ala544Gly) c.1538C>G (p.Ala513Gly) n.515+6622G>C n.722+6622G>C c.1826C>G (p.Ala609Gly) c.1523C>G (p.Ala508Gly) c.1751C>G (p.Ala584Gly) n.4239C>G n.4895C>G n.5355C>G | |
7 | g.148811707G>T | CA369713194 | EZH2 | n.3765C>A c.*927C>A (n.*927C>A) c.*761C>A (n.*761C>A) n.3584C>A n.2756C>A n.2181C>A n.2243C>A c.1865C>A (p.Ala622Glu) c.1733C>A (p.Ala578Glu) c.1850C>A (p.Ala617Glu) n.117C>A c.1697C>A (p.Ala566Glu) c.1823C>A (p.Ala608Glu) c.*1855C>A (n.*1855C>A) c.1874C>A (p.Ala625Glu) c.1847C>A (p.Ala616Glu) c.1721C>A (p.Ala574Glu) c.1889C>A (p.Ala630Glu) c.1862C>A (p.Ala621Glu) c.1841C>A (p.Ala614Glu) c.1838C>A (p.Ala613Glu) c.1799C>A (p.Ala600Glu) c.1772C>A (p.Ala591Glu) c.1766C>A (p.Ala589Glu) c.1763C>A (p.Ala588Glu) c.1757C>A (p.Ala586Glu) c.1748C>A (p.Ala583Glu) c.1745C>A (p.Ala582Glu) c.1631C>A (p.Ala544Glu) c.1538C>A (p.Ala513Glu) n.515+6622G>T n.722+6622G>T c.1826C>A (p.Ala609Glu) c.1523C>A (p.Ala508Glu) c.1751C>A (p.Ala584Glu) n.4239C>A n.4895C>A n.5355C>A | gnomAD v4 |
7 | g.148811708C>A | CA369713199 | EZH2 | n.3764G>T c.*926G>T (n.*926G>T) c.*760G>T (n.*760G>T) n.3583G>T n.2755G>T n.2180G>T n.2242G>T c.1864G>T (p.Ala622Ser) c.1732G>T (p.Ala578Ser) c.1849G>T (p.Ala617Ser) n.116G>T c.1696G>T (p.Ala566Ser) c.1822G>T (p.Ala608Ser) c.*1854G>T (n.*1854G>T) c.1873G>T (p.Ala625Ser) c.1846G>T (p.Ala616Ser) c.1720G>T (p.Ala574Ser) c.1888G>T (p.Ala630Ser) c.1861G>T (p.Ala621Ser) c.1840G>T (p.Ala614Ser) c.1837G>T (p.Ala613Ser) c.1798G>T (p.Ala600Ser) c.1771G>T (p.Ala591Ser) c.1765G>T (p.Ala589Ser) c.1762G>T (p.Ala588Ser) c.1756G>T (p.Ala586Ser) c.1747G>T (p.Ala583Ser) c.1744G>T (p.Ala582Ser) c.1630G>T (p.Ala544Ser) c.1537G>T (p.Ala513Ser) n.515+6623C>A n.722+6623C>A c.1825G>T (p.Ala609Ser) c.1522G>T (p.Ala508Ser) c.1750G>T (p.Ala584Ser) n.4238G>T n.4894G>T n.5354G>T | dbSNP |
7 | g.148811708C>G | CA369713197 | EZH2 | n.3764G>C c.*926G>C (n.*926G>C) c.*760G>C (n.*760G>C) n.3583G>C n.2755G>C n.2180G>C n.2242G>C c.1864G>C (p.Ala622Pro) c.1732G>C (p.Ala578Pro) c.1849G>C (p.Ala617Pro) n.116G>C c.1696G>C (p.Ala566Pro) c.1822G>C (p.Ala608Pro) c.*1854G>C (n.*1854G>C) c.1873G>C (p.Ala625Pro) c.1846G>C (p.Ala616Pro) c.1720G>C (p.Ala574Pro) c.1888G>C (p.Ala630Pro) c.1861G>C (p.Ala621Pro) c.1840G>C (p.Ala614Pro) c.1837G>C (p.Ala613Pro) c.1798G>C (p.Ala600Pro) c.1771G>C (p.Ala591Pro) c.1765G>C (p.Ala589Pro) c.1762G>C (p.Ala588Pro) c.1756G>C (p.Ala586Pro) c.1747G>C (p.Ala583Pro) c.1744G>C (p.Ala582Pro) c.1630G>C (p.Ala544Pro) c.1537G>C (p.Ala513Pro) n.515+6623C>G n.722+6623C>G c.1825G>C (p.Ala609Pro) c.1522G>C (p.Ala508Pro) c.1750G>C (p.Ala584Pro) n.4238G>C n.4894G>C n.5354G>C | dbSNP |
7 | g.148811708C>T | CA369713198 | EZH2 | n.3764G>A c.*926G>A (n.*926G>A) c.*760G>A (n.*760G>A) n.3583G>A n.2755G>A n.2180G>A n.2242G>A c.1864G>A (p.Ala622Thr) c.1732G>A (p.Ala578Thr) c.1849G>A (p.Ala617Thr) n.116G>A c.1696G>A (p.Ala566Thr) c.1822G>A (p.Ala608Thr) c.*1854G>A (n.*1854G>A) c.1873G>A (p.Ala625Thr) c.1846G>A (p.Ala616Thr) c.1720G>A (p.Ala574Thr) c.1888G>A (p.Ala630Thr) c.1861G>A (p.Ala621Thr) c.1840G>A (p.Ala614Thr) c.1837G>A (p.Ala613Thr) c.1798G>A (p.Ala600Thr) c.1771G>A (p.Ala591Thr) c.1765G>A (p.Ala589Thr) c.1762G>A (p.Ala588Thr) c.1756G>A (p.Ala586Thr) c.1747G>A (p.Ala583Thr) c.1744G>A (p.Ala582Thr) c.1630G>A (p.Ala544Thr) c.1537G>A (p.Ala513Thr) n.515+6623C>T n.722+6623C>T c.1825G>A (p.Ala609Thr) c.1522G>A (p.Ala508Thr) c.1750G>A (p.Ala584Thr) n.4238G>A n.4894G>A n.5354G>A | dbSNP gnomAD v4 |
7 | g.148811709C>A | CA458345864 | EZH2 | n.3763G>T c.*925G>T (n.*925G>T) c.*759G>T (n.*759G>T) n.3582G>T n.2754G>T n.2179G>T n.2241G>T c.1863G>T (p.Leu621=) c.1731G>T (p.Leu577=) c.1848G>T (p.Leu616=) n.115G>T c.1695G>T (p.Leu565=) c.1821G>T (p.Leu607=) c.*1853G>T (n.*1853G>T) c.1872G>T (p.Leu624=) c.1845G>T (p.Leu615=) c.1719G>T (p.Leu573=) c.1887G>T (p.Leu629=) c.1860G>T (p.Leu620=) c.1839G>T (p.Leu613=) c.1836G>T (p.Leu612=) c.1797G>T (p.Leu599=) c.1770G>T (p.Leu590=) c.1764G>T (p.Leu588=) c.1761G>T (p.Leu587=) c.1755G>T (p.Leu585=) c.1746G>T (p.Leu582=) c.1743G>T (p.Leu581=) c.1629G>T (p.Leu543=) c.1536G>T (p.Leu512=) n.515+6624C>A n.722+6624C>A c.1824G>T (p.Leu608=) c.1521G>T (p.Leu507=) c.1749G>T (p.Leu583=) n.4237G>T n.4893G>T n.5353G>T | gnomAD v4 |
7 | g.148811709C>G | CA458345865 | EZH2 | n.3763G>C c.*925G>C (n.*925G>C) c.*759G>C (n.*759G>C) n.3582G>C n.2754G>C n.2179G>C n.2241G>C c.1863G>C (p.Leu621=) c.1731G>C (p.Leu577=) c.1848G>C (p.Leu616=) n.115G>C c.1695G>C (p.Leu565=) c.1821G>C (p.Leu607=) c.*1853G>C (n.*1853G>C) c.1872G>C (p.Leu624=) c.1845G>C (p.Leu615=) c.1719G>C (p.Leu573=) c.1887G>C (p.Leu629=) c.1860G>C (p.Leu620=) c.1839G>C (p.Leu613=) c.1836G>C (p.Leu612=) c.1797G>C (p.Leu599=) c.1770G>C (p.Leu590=) c.1764G>C (p.Leu588=) c.1761G>C (p.Leu587=) c.1755G>C (p.Leu585=) c.1746G>C (p.Leu582=) c.1743G>C (p.Leu581=) c.1629G>C (p.Leu543=) c.1536G>C (p.Leu512=) n.515+6624C>G n.722+6624C>G c.1824G>C (p.Leu608=) c.1521G>C (p.Leu507=) c.1749G>C (p.Leu583=) n.4237G>C n.4893G>C n.5353G>C | dbSNP gnomAD v4 |
7 | g.148811709C>T | CA458345867 | EZH2 | n.3763G>A c.*925G>A (n.*925G>A) c.*759G>A (n.*759G>A) n.3582G>A n.2754G>A n.2179G>A n.2241G>A c.1863G>A (p.Leu621=) c.1731G>A (p.Leu577=) c.1848G>A (p.Leu616=) n.115G>A c.1695G>A (p.Leu565=) c.1821G>A (p.Leu607=) c.*1853G>A (n.*1853G>A) c.1872G>A (p.Leu624=) c.1845G>A (p.Leu615=) c.1719G>A (p.Leu573=) c.1887G>A (p.Leu629=) c.1860G>A (p.Leu620=) c.1839G>A (p.Leu613=) c.1836G>A (p.Leu612=) c.1797G>A (p.Leu599=) c.1770G>A (p.Leu590=) c.1764G>A (p.Leu588=) c.1761G>A (p.Leu587=) c.1755G>A (p.Leu585=) c.1746G>A (p.Leu582=) c.1743G>A (p.Leu581=) c.1629G>A (p.Leu543=) c.1536G>A (p.Leu512=) n.515+6624C>T n.722+6624C>T c.1824G>A (p.Leu608=) c.1521G>A (p.Leu507=) c.1749G>A (p.Leu583=) n.4237G>A n.4893G>A n.5353G>A | gnomAD v4 |
7 | g.148811710A>C | CA369713200 | EZH2 | n.3762T>G c.*924T>G (n.*924T>G) c.*758T>G (n.*758T>G) n.3581T>G n.2753T>G n.2178T>G n.2240T>G c.1862T>G (p.Leu621Arg) c.1730T>G (p.Leu577Arg) c.1847T>G (p.Leu616Arg) n.114T>G c.1694T>G (p.Leu565Arg) c.1820T>G (p.Leu607Arg) c.*1852T>G (n.*1852T>G) c.1871T>G (p.Leu624Arg) c.1844T>G (p.Leu615Arg) c.1718T>G (p.Leu573Arg) c.1886T>G (p.Leu629Arg) c.1859T>G (p.Leu620Arg) c.1838T>G (p.Leu613Arg) c.1835T>G (p.Leu612Arg) c.1796T>G (p.Leu599Arg) c.1769T>G (p.Leu590Arg) c.1763T>G (p.Leu588Arg) c.1760T>G (p.Leu587Arg) c.1754T>G (p.Leu585Arg) c.1745T>G (p.Leu582Arg) c.1742T>G (p.Leu581Arg) c.1628T>G (p.Leu543Arg) c.1535T>G (p.Leu512Arg) n.515+6625A>C n.722+6625A>C c.1823T>G (p.Leu608Arg) c.1520T>G (p.Leu507Arg) c.1748T>G (p.Leu583Arg) n.4236T>G n.4892T>G n.5352T>G | |
7 | g.148811710A>G | CA369713201 | EZH2 | n.3762T>C c.*924T>C (n.*924T>C) c.*758T>C (n.*758T>C) n.3581T>C n.2753T>C n.2178T>C n.2240T>C c.1862T>C (p.Leu621Pro) c.1730T>C (p.Leu577Pro) c.1847T>C (p.Leu616Pro) n.114T>C c.1694T>C (p.Leu565Pro) c.1820T>C (p.Leu607Pro) c.*1852T>C (n.*1852T>C) c.1871T>C (p.Leu624Pro) c.1844T>C (p.Leu615Pro) c.1718T>C (p.Leu573Pro) c.1886T>C (p.Leu629Pro) c.1859T>C (p.Leu620Pro) c.1838T>C (p.Leu613Pro) c.1835T>C (p.Leu612Pro) c.1796T>C (p.Leu599Pro) c.1769T>C (p.Leu590Pro) c.1763T>C (p.Leu588Pro) c.1760T>C (p.Leu587Pro) c.1754T>C (p.Leu585Pro) c.1745T>C (p.Leu582Pro) c.1742T>C (p.Leu581Pro) c.1628T>C (p.Leu543Pro) c.1535T>C (p.Leu512Pro) n.515+6625A>G n.722+6625A>G c.1823T>C (p.Leu608Pro) c.1520T>C (p.Leu507Pro) c.1748T>C (p.Leu583Pro) n.4236T>C n.4892T>C n.5352T>C | |
7 | g.148811710A>T | CA369713202 | EZH2 | n.3762T>A c.*924T>A (n.*924T>A) c.*758T>A (n.*758T>A) n.3581T>A n.2753T>A n.2178T>A n.2240T>A c.1862T>A (p.Leu621Gln) c.1730T>A (p.Leu577Gln) c.1847T>A (p.Leu616Gln) n.114T>A c.1694T>A (p.Leu565Gln) c.1820T>A (p.Leu607Gln) c.*1852T>A (n.*1852T>A) c.1871T>A (p.Leu624Gln) c.1844T>A (p.Leu615Gln) c.1718T>A (p.Leu573Gln) c.1886T>A (p.Leu629Gln) c.1859T>A (p.Leu620Gln) c.1838T>A (p.Leu613Gln) c.1835T>A (p.Leu612Gln) c.1796T>A (p.Leu599Gln) c.1769T>A (p.Leu590Gln) c.1763T>A (p.Leu588Gln) c.1760T>A (p.Leu587Gln) c.1754T>A (p.Leu585Gln) c.1745T>A (p.Leu582Gln) c.1742T>A (p.Leu581Gln) c.1628T>A (p.Leu543Gln) c.1535T>A (p.Leu512Gln) n.515+6625A>T n.722+6625A>T c.1823T>A (p.Leu608Gln) c.1520T>A (p.Leu507Gln) c.1748T>A (p.Leu583Gln) n.4236T>A n.4892T>A n.5352T>A | |
7 | g.148811711G>A | CA458345868 | EZH2 | n.3761C>T c.*923C>T (n.*923C>T) c.*757C>T (n.*757C>T) n.3580C>T n.2752C>T n.2177C>T n.2239C>T c.1861C>T (p.Leu621=) c.1729C>T (p.Leu577=) c.1846C>T (p.Leu616=) n.113C>T c.1693C>T (p.Leu565=) c.1819C>T (p.Leu607=) c.*1851C>T (n.*1851C>T) c.1870C>T (p.Leu624=) c.1843C>T (p.Leu615=) c.1717C>T (p.Leu573=) c.1885C>T (p.Leu629=) c.1858C>T (p.Leu620=) c.1837C>T (p.Leu613=) c.1834C>T (p.Leu612=) c.1795C>T (p.Leu599=) c.1768C>T (p.Leu590=) c.1762C>T (p.Leu588=) c.1759C>T (p.Leu587=) c.1753C>T (p.Leu585=) c.1744C>T (p.Leu582=) c.1741C>T (p.Leu581=) c.1627C>T (p.Leu543=) c.1534C>T (p.Leu512=) n.515+6626G>A n.722+6626G>A c.1822C>T (p.Leu608=) c.1519C>T (p.Leu507=) c.1747C>T (p.Leu583=) n.4235C>T n.4891C>T n.5351C>T | gnomAD v4 |
7 | g.148811711G>C | CA369713203 | EZH2 | n.3761C>G c.*923C>G (n.*923C>G) c.*757C>G (n.*757C>G) n.3580C>G n.2752C>G n.2177C>G n.2239C>G c.1861C>G (p.Leu621Val) c.1729C>G (p.Leu577Val) c.1846C>G (p.Leu616Val) n.113C>G c.1693C>G (p.Leu565Val) c.1819C>G (p.Leu607Val) c.*1851C>G (n.*1851C>G) c.1870C>G (p.Leu624Val) c.1843C>G (p.Leu615Val) c.1717C>G (p.Leu573Val) c.1885C>G (p.Leu629Val) c.1858C>G (p.Leu620Val) c.1837C>G (p.Leu613Val) c.1834C>G (p.Leu612Val) c.1795C>G (p.Leu599Val) c.1768C>G (p.Leu590Val) c.1762C>G (p.Leu588Val) c.1759C>G (p.Leu587Val) c.1753C>G (p.Leu585Val) c.1744C>G (p.Leu582Val) c.1741C>G (p.Leu581Val) c.1627C>G (p.Leu543Val) c.1534C>G (p.Leu512Val) n.515+6626G>C n.722+6626G>C c.1822C>G (p.Leu608Val) c.1519C>G (p.Leu507Val) c.1747C>G (p.Leu583Val) n.4235C>G n.4891C>G n.5351C>G | |
7 | g.148811711G>T | CA369713204 | EZH2 | n.3761C>A c.*923C>A (n.*923C>A) c.*757C>A (n.*757C>A) n.3580C>A n.2752C>A n.2177C>A n.2239C>A c.1861C>A (p.Leu621Met) c.1729C>A (p.Leu577Met) c.1846C>A (p.Leu616Met) n.113C>A c.1693C>A (p.Leu565Met) c.1819C>A (p.Leu607Met) c.*1851C>A (n.*1851C>A) c.1870C>A (p.Leu624Met) c.1843C>A (p.Leu615Met) c.1717C>A (p.Leu573Met) c.1885C>A (p.Leu629Met) c.1858C>A (p.Leu620Met) c.1837C>A (p.Leu613Met) c.1834C>A (p.Leu612Met) c.1795C>A (p.Leu599Met) c.1768C>A (p.Leu590Met) c.1762C>A (p.Leu588Met) c.1759C>A (p.Leu587Met) c.1753C>A (p.Leu585Met) c.1744C>A (p.Leu582Met) c.1741C>A (p.Leu581Met) c.1627C>A (p.Leu543Met) c.1534C>A (p.Leu512Met) n.515+6626G>T n.722+6626G>T c.1822C>A (p.Leu608Met) c.1519C>A (p.Leu507Met) c.1747C>A (p.Leu583Met) n.4235C>A n.4891C>A n.5351C>A | gnomAD v4 |
7 | g.148811712C>A | CA369713205 | EZH2 | n.3760G>T c.*922G>T (n.*922G>T) c.*756G>T (n.*756G>T) n.3579G>T n.2751G>T n.2176G>T n.2238G>T c.1860G>T (p.Leu620Phe) c.1728G>T (p.Leu576Phe) c.1845G>T (p.Leu615Phe) n.112G>T c.1692G>T (p.Leu564Phe) c.1818G>T (p.Leu606Phe) c.*1850G>T (n.*1850G>T) c.1869G>T (p.Leu623Phe) c.1842G>T (p.Leu614Phe) c.1716G>T (p.Leu572Phe) c.1884G>T (p.Leu628Phe) c.1857G>T (p.Leu619Phe) c.1836G>T (p.Leu612Phe) c.1833G>T (p.Leu611Phe) c.1794G>T (p.Leu598Phe) c.1767G>T (p.Leu589Phe) c.1761G>T (p.Leu587Phe) c.1758G>T (p.Leu586Phe) c.1752G>T (p.Leu584Phe) c.1743G>T (p.Leu581Phe) c.1740G>T (p.Leu580Phe) c.1626G>T (p.Leu542Phe) c.1533G>T (p.Leu511Phe) n.515+6627C>A n.722+6627C>A c.1821G>T (p.Leu607Phe) c.1518G>T (p.Leu506Phe) c.1746G>T (p.Leu582Phe) n.4234G>T n.4890G>T n.5350G>T | dbSNP |
7 | g.148811712C= | CA1751424165 | EZH2 | n.3760G= c.*922G= (n.*922G=) c.*756G= (n.*756G=) n.3579G= n.2751G= n.2176G= n.2238G= c.1860G= (p.Leu620=) c.1728G= (p.Leu576=) c.1845G= (p.Leu615=) n.112G= c.1692G= (p.Leu564=) c.1818G= (p.Leu606=) c.*1850G= (n.*1850G=) c.1869G= (p.Leu623=) c.1842G= (p.Leu614=) c.1716G= (p.Leu572=) c.1884G= (p.Leu628=) c.1857G= (p.Leu619=) c.1836G= (p.Leu612=) c.1833G= (p.Leu611=) c.1794G= (p.Leu598=) c.1767G= (p.Leu589=) c.1761G= (p.Leu587=) c.1758G= (p.Leu586=) c.1752G= (p.Leu584=) c.1743G= (p.Leu581=) c.1740G= (p.Leu580=) c.1626G= (p.Leu542=) c.1533G= (p.Leu511=) n.515+6627C= n.722+6627C= c.1821G= (p.Leu607=) c.1518G= (p.Leu506=) c.1746G= (p.Leu582=) n.4234G= n.4890G= n.5350G= | |
7 | g.148811712C>G | CA369713206 | EZH2 | n.3760G>C c.*922G>C (n.*922G>C) c.*756G>C (n.*756G>C) n.3579G>C n.2751G>C n.2176G>C n.2238G>C c.1860G>C (p.Leu620Phe) c.1728G>C (p.Leu576Phe) c.1845G>C (p.Leu615Phe) n.112G>C c.1692G>C (p.Leu564Phe) c.1818G>C (p.Leu606Phe) c.*1850G>C (n.*1850G>C) c.1869G>C (p.Leu623Phe) c.1842G>C (p.Leu614Phe) c.1716G>C (p.Leu572Phe) c.1884G>C (p.Leu628Phe) c.1857G>C (p.Leu619Phe) c.1836G>C (p.Leu612Phe) c.1833G>C (p.Leu611Phe) c.1794G>C (p.Leu598Phe) c.1767G>C (p.Leu589Phe) c.1761G>C (p.Leu587Phe) c.1758G>C (p.Leu586Phe) c.1752G>C (p.Leu584Phe) c.1743G>C (p.Leu581Phe) c.1740G>C (p.Leu580Phe) c.1626G>C (p.Leu542Phe) c.1533G>C (p.Leu511Phe) n.515+6627C>G n.722+6627C>G c.1821G>C (p.Leu607Phe) c.1518G>C (p.Leu506Phe) c.1746G>C (p.Leu582Phe) n.4234G>C n.4890G>C n.5350G>C | dbSNP |
7 | g.148811712C>T | CA458345870 | EZH2 | n.3760G>A c.*922G>A (n.*922G>A) c.*756G>A (n.*756G>A) n.3579G>A n.2751G>A n.2176G>A n.2238G>A c.1860G>A (p.Leu620=) c.1728G>A (p.Leu576=) c.1845G>A (p.Leu615=) n.112G>A c.1692G>A (p.Leu564=) c.1818G>A (p.Leu606=) c.*1850G>A (n.*1850G>A) c.1869G>A (p.Leu623=) c.1842G>A (p.Leu614=) c.1716G>A (p.Leu572=) c.1884G>A (p.Leu628=) c.1857G>A (p.Leu619=) c.1836G>A (p.Leu612=) c.1833G>A (p.Leu611=) c.1794G>A (p.Leu598=) c.1767G>A (p.Leu589=) c.1761G>A (p.Leu587=) c.1758G>A (p.Leu586=) c.1752G>A (p.Leu584=) c.1743G>A (p.Leu581=) c.1740G>A (p.Leu580=) c.1626G>A (p.Leu542=) c.1533G>A (p.Leu511=) n.515+6627C>T n.722+6627C>T c.1821G>A (p.Leu607=) c.1518G>A (p.Leu506=) c.1746G>A (p.Leu582=) n.4234G>A n.4890G>A n.5350G>A | dbSNP |
7 | g.148811713A>C | CA369713207 | EZH2 | n.3759T>G c.*921T>G (n.*921T>G) c.*755T>G (n.*755T>G) n.3578T>G n.2750T>G n.2175T>G n.2237T>G c.1859T>G (p.Leu620Trp) c.1727T>G (p.Leu576Trp) c.1844T>G (p.Leu615Trp) n.111T>G c.1691T>G (p.Leu564Trp) c.1817T>G (p.Leu606Trp) c.*1849T>G (n.*1849T>G) c.1868T>G (p.Leu623Trp) c.1841T>G (p.Leu614Trp) c.1715T>G (p.Leu572Trp) c.1883T>G (p.Leu628Trp) c.1856T>G (p.Leu619Trp) c.1835T>G (p.Leu612Trp) c.1832T>G (p.Leu611Trp) c.1793T>G (p.Leu598Trp) c.1766T>G (p.Leu589Trp) c.1760T>G (p.Leu587Trp) c.1757T>G (p.Leu586Trp) c.1751T>G (p.Leu584Trp) c.1742T>G (p.Leu581Trp) c.1739T>G (p.Leu580Trp) c.1625T>G (p.Leu542Trp) c.1532T>G (p.Leu511Trp) n.515+6628A>C n.722+6628A>C c.1820T>G (p.Leu607Trp) c.1517T>G (p.Leu506Trp) c.1745T>G (p.Leu582Trp) n.4233T>G n.4889T>G n.5349T>G | |
7 | g.148811713A>G | CA369713208 | EZH2 | n.3759T>C c.*921T>C (n.*921T>C) c.*755T>C (n.*755T>C) n.3578T>C n.2750T>C n.2175T>C n.2237T>C c.1859T>C (p.Leu620Ser) c.1727T>C (p.Leu576Ser) c.1844T>C (p.Leu615Ser) n.111T>C c.1691T>C (p.Leu564Ser) c.1817T>C (p.Leu606Ser) c.*1849T>C (n.*1849T>C) c.1868T>C (p.Leu623Ser) c.1841T>C (p.Leu614Ser) c.1715T>C (p.Leu572Ser) c.1883T>C (p.Leu628Ser) c.1856T>C (p.Leu619Ser) c.1835T>C (p.Leu612Ser) c.1832T>C (p.Leu611Ser) c.1793T>C (p.Leu598Ser) c.1766T>C (p.Leu589Ser) c.1760T>C (p.Leu587Ser) c.1757T>C (p.Leu586Ser) c.1751T>C (p.Leu584Ser) c.1742T>C (p.Leu581Ser) c.1739T>C (p.Leu580Ser) c.1625T>C (p.Leu542Ser) c.1532T>C (p.Leu511Ser) n.515+6628A>G n.722+6628A>G c.1820T>C (p.Leu607Ser) c.1517T>C (p.Leu506Ser) c.1745T>C (p.Leu582Ser) n.4233T>C n.4889T>C n.5349T>C | |
7 | g.148811713A>T | CA369713209 | EZH2 | n.3759T>A c.*921T>A (n.*921T>A) c.*755T>A (n.*755T>A) n.3578T>A n.2750T>A n.2175T>A n.2237T>A c.1859T>A (p.Leu620Ter) c.1727T>A (p.Leu576Ter) c.1844T>A (p.Leu615Ter) n.111T>A c.1691T>A (p.Leu564Ter) c.1817T>A (p.Leu606Ter) c.*1849T>A (n.*1849T>A) c.1868T>A (p.Leu623Ter) c.1841T>A (p.Leu614Ter) c.1715T>A (p.Leu572Ter) c.1883T>A (p.Leu628Ter) c.1856T>A (p.Leu619Ter) c.1835T>A (p.Leu612Ter) c.1832T>A (p.Leu611Ter) c.1793T>A (p.Leu598Ter) c.1766T>A (p.Leu589Ter) c.1760T>A (p.Leu587Ter) c.1757T>A (p.Leu586Ter) c.1751T>A (p.Leu584Ter) c.1742T>A (p.Leu581Ter) c.1739T>A (p.Leu580Ter) c.1625T>A (p.Leu542Ter) c.1532T>A (p.Leu511Ter) n.515+6628A>T n.722+6628A>T c.1820T>A (p.Leu607Ter) c.1517T>A (p.Leu506Ter) c.1745T>A (p.Leu582Ter) n.4233T>A n.4889T>A n.5349T>A | dbSNP |
7 | g.148811714A>C | CA369713210 | EZH2 | n.3758T>G c.*920T>G (n.*920T>G) c.*754T>G (n.*754T>G) n.3577T>G n.2749T>G n.2174T>G n.2236T>G c.1858T>G (p.Leu620Val) c.1726T>G (p.Leu576Val) c.1843T>G (p.Leu615Val) n.110T>G c.1690T>G (p.Leu564Val) c.1816T>G (p.Leu606Val) c.*1848T>G (n.*1848T>G) c.1867T>G (p.Leu623Val) c.1840T>G (p.Leu614Val) c.1714T>G (p.Leu572Val) c.1882T>G (p.Leu628Val) c.1855T>G (p.Leu619Val) c.1834T>G (p.Leu612Val) c.1831T>G (p.Leu611Val) c.1792T>G (p.Leu598Val) c.1765T>G (p.Leu589Val) c.1759T>G (p.Leu587Val) c.1756T>G (p.Leu586Val) c.1750T>G (p.Leu584Val) c.1741T>G (p.Leu581Val) c.1738T>G (p.Leu580Val) c.1624T>G (p.Leu542Val) c.1531T>G (p.Leu511Val) n.515+6629A>C n.722+6629A>C c.1819T>G (p.Leu607Val) c.1516T>G (p.Leu506Val) c.1744T>G (p.Leu582Val) n.4232T>G n.4888T>G n.5348T>G | |
7 | g.148811714A>G | CA458345873 | EZH2 | n.3758T>C c.*920T>C (n.*920T>C) c.*754T>C (n.*754T>C) n.3577T>C n.2749T>C n.2174T>C n.2236T>C c.1858T>C (p.Leu620=) c.1726T>C (p.Leu576=) c.1843T>C (p.Leu615=) n.110T>C c.1690T>C (p.Leu564=) c.1816T>C (p.Leu606=) c.*1848T>C (n.*1848T>C) c.1867T>C (p.Leu623=) c.1840T>C (p.Leu614=) c.1714T>C (p.Leu572=) c.1882T>C (p.Leu628=) c.1855T>C (p.Leu619=) c.1834T>C (p.Leu612=) c.1831T>C (p.Leu611=) c.1792T>C (p.Leu598=) c.1765T>C (p.Leu589=) c.1759T>C (p.Leu587=) c.1756T>C (p.Leu586=) c.1750T>C (p.Leu584=) c.1741T>C (p.Leu581=) c.1738T>C (p.Leu580=) c.1624T>C (p.Leu542=) c.1531T>C (p.Leu511=) n.515+6629A>G n.722+6629A>G c.1819T>C (p.Leu607=) c.1516T>C (p.Leu506=) c.1744T>C (p.Leu582=) n.4232T>C n.4888T>C n.5348T>C | |
7 | g.148811714A>T | CA369713211 | EZH2 | n.3758T>A c.*920T>A (n.*920T>A) c.*754T>A (n.*754T>A) n.3577T>A n.2749T>A n.2174T>A n.2236T>A c.1858T>A (p.Leu620Met) c.1726T>A (p.Leu576Met) c.1843T>A (p.Leu615Met) n.110T>A c.1690T>A (p.Leu564Met) c.1816T>A (p.Leu606Met) c.*1848T>A (n.*1848T>A) c.1867T>A (p.Leu623Met) c.1840T>A (p.Leu614Met) c.1714T>A (p.Leu572Met) c.1882T>A (p.Leu628Met) c.1855T>A (p.Leu619Met) c.1834T>A (p.Leu612Met) c.1831T>A (p.Leu611Met) c.1792T>A (p.Leu598Met) c.1765T>A (p.Leu589Met) c.1759T>A (p.Leu587Met) c.1756T>A (p.Leu586Met) c.1750T>A (p.Leu584Met) c.1741T>A (p.Leu581Met) c.1738T>A (p.Leu580Met) c.1624T>A (p.Leu542Met) c.1531T>A (p.Leu511Met) n.515+6629A>T n.722+6629A>T c.1819T>A (p.Leu607Met) c.1516T>A (p.Leu506Met) c.1744T>A (p.Leu582Met) n.4232T>A n.4888T>A n.5348T>A | |
7 | g.148811715T>A | CA458345874 | EZH2 | n.3757A>T c.*919A>T (n.*919A>T) c.*753A>T (n.*753A>T) n.3576A>T n.2748A>T n.2173A>T n.2235A>T c.1857A>T (p.Leu619=) c.1725A>T (p.Leu575=) c.1842A>T (p.Leu614=) n.109A>T c.1689A>T (p.Leu563=) c.1815A>T (p.Leu605=) c.*1847A>T (n.*1847A>T) c.1866A>T (p.Leu622=) c.1839A>T (p.Leu613=) c.1713A>T (p.Leu571=) c.1881A>T (p.Leu627=) c.1854A>T (p.Leu618=) c.1833A>T (p.Leu611=) c.1830A>T (p.Leu610=) c.1791A>T (p.Leu597=) c.1764A>T (p.Leu588=) c.1758A>T (p.Leu586=) c.1755A>T (p.Leu585=) c.1749A>T (p.Leu583=) c.1740A>T (p.Leu580=) c.1737A>T (p.Leu579=) c.1623A>T (p.Leu541=) c.1530A>T (p.Leu510=) n.515+6630T>A n.722+6630T>A c.1818A>T (p.Leu606=) c.1515A>T (p.Leu505=) c.1743A>T (p.Leu581=) n.4231A>T n.4887A>T n.5347A>T | dbSNP |
7 | g.148811715T>C | CA168910213 | EZH2 | n.3757A>G c.*919A>G (n.*919A>G) c.*753A>G (n.*753A>G) n.3576A>G n.2748A>G n.2173A>G n.2235A>G c.1857A>G (p.Leu619=) c.1725A>G (p.Leu575=) c.1842A>G (p.Leu614=) n.109A>G c.1689A>G (p.Leu563=) c.1815A>G (p.Leu605=) c.*1847A>G (n.*1847A>G) c.1866A>G (p.Leu622=) c.1839A>G (p.Leu613=) c.1713A>G (p.Leu571=) c.1881A>G (p.Leu627=) c.1854A>G (p.Leu618=) c.1833A>G (p.Leu611=) c.1830A>G (p.Leu610=) c.1791A>G (p.Leu597=) c.1764A>G (p.Leu588=) c.1758A>G (p.Leu586=) c.1755A>G (p.Leu585=) c.1749A>G (p.Leu583=) c.1740A>G (p.Leu580=) c.1737A>G (p.Leu579=) c.1623A>G (p.Leu541=) c.1530A>G (p.Leu510=) n.515+6630T>C n.722+6630T>C c.1818A>G (p.Leu606=) c.1515A>G (p.Leu505=) c.1743A>G (p.Leu581=) n.4231A>G n.4887A>G n.5347A>G | dbSNP gnomAD v2 gnomAD v4 |
7 | g.148811715T>G | CA458345875 | EZH2 | n.3757A>C c.*919A>C (n.*919A>C) c.*753A>C (n.*753A>C) n.3576A>C n.2748A>C n.2173A>C n.2235A>C c.1857A>C (p.Leu619=) c.1725A>C (p.Leu575=) c.1842A>C (p.Leu614=) n.109A>C c.1689A>C (p.Leu563=) c.1815A>C (p.Leu605=) c.*1847A>C (n.*1847A>C) c.1866A>C (p.Leu622=) c.1839A>C (p.Leu613=) c.1713A>C (p.Leu571=) c.1881A>C (p.Leu627=) c.1854A>C (p.Leu618=) c.1833A>C (p.Leu611=) c.1830A>C (p.Leu610=) c.1791A>C (p.Leu597=) c.1764A>C (p.Leu588=) c.1758A>C (p.Leu586=) c.1755A>C (p.Leu585=) c.1749A>C (p.Leu583=) c.1740A>C (p.Leu580=) c.1737A>C (p.Leu579=) c.1623A>C (p.Leu541=) c.1530A>C (p.Leu510=) n.515+6630T>G n.722+6630T>G c.1818A>C (p.Leu606=) c.1515A>C (p.Leu505=) c.1743A>C (p.Leu581=) n.4231A>C n.4887A>C n.5347A>C | dbSNP |
7 | g.148811715T= | CA1751424166 | EZH2 | n.3757A= c.*919A= (n.*919A=) c.*753A= (n.*753A=) n.3576A= n.2748A= n.2173A= n.2235A= c.1857A= (p.Leu619=) c.1725A= (p.Leu575=) c.1842A= (p.Leu614=) n.109A= c.1689A= (p.Leu563=) c.1815A= (p.Leu605=) c.*1847A= (n.*1847A=) c.1866A= (p.Leu622=) c.1839A= (p.Leu613=) c.1713A= (p.Leu571=) c.1881A= (p.Leu627=) c.1854A= (p.Leu618=) c.1833A= (p.Leu611=) c.1830A= (p.Leu610=) c.1791A= (p.Leu597=) c.1764A= (p.Leu588=) c.1758A= (p.Leu586=) c.1755A= (p.Leu585=) c.1749A= (p.Leu583=) c.1740A= (p.Leu580=) c.1737A= (p.Leu579=) c.1623A= (p.Leu541=) c.1530A= (p.Leu510=) n.515+6630T= n.722+6630T= c.1818A= (p.Leu606=) c.1515A= (p.Leu505=) c.1743A= (p.Leu581=) n.4231A= n.4887A= n.5347A= | |
7 | g.148811716A>C | CA369713214 | EZH2 | n.3756T>G c.*918T>G (n.*918T>G) c.*752T>G (n.*752T>G) n.3575T>G n.2747T>G n.2172T>G n.2234T>G c.1856T>G (p.Leu619Arg) c.1724T>G (p.Leu575Arg) c.1841T>G (p.Leu614Arg) n.108T>G c.1688T>G (p.Leu563Arg) c.1814T>G (p.Leu605Arg) c.*1846T>G (n.*1846T>G) c.1865T>G (p.Leu622Arg) c.1838T>G (p.Leu613Arg) c.1712T>G (p.Leu571Arg) c.1880T>G (p.Leu627Arg) c.1853T>G (p.Leu618Arg) c.1832T>G (p.Leu611Arg) c.1829T>G (p.Leu610Arg) c.1790T>G (p.Leu597Arg) c.1763T>G (p.Leu588Arg) c.1757T>G (p.Leu586Arg) c.1754T>G (p.Leu585Arg) c.1748T>G (p.Leu583Arg) c.1739T>G (p.Leu580Arg) c.1736T>G (p.Leu579Arg) c.1622T>G (p.Leu541Arg) c.1529T>G (p.Leu510Arg) n.515+6631A>C n.722+6631A>C c.1817T>G (p.Leu606Arg) c.1514T>G (p.Leu505Arg) c.1742T>G (p.Leu581Arg) n.4230T>G n.4886T>G n.5346T>G | |
7 | g.148811716A>G | CA369713212 | EZH2 | n.3756T>C c.*918T>C (n.*918T>C) c.*752T>C (n.*752T>C) n.3575T>C n.2747T>C n.2172T>C n.2234T>C c.1856T>C (p.Leu619Pro) c.1724T>C (p.Leu575Pro) c.1841T>C (p.Leu614Pro) n.108T>C c.1688T>C (p.Leu563Pro) c.1814T>C (p.Leu605Pro) c.*1846T>C (n.*1846T>C) c.1865T>C (p.Leu622Pro) c.1838T>C (p.Leu613Pro) c.1712T>C (p.Leu571Pro) c.1880T>C (p.Leu627Pro) c.1853T>C (p.Leu618Pro) c.1832T>C (p.Leu611Pro) c.1829T>C (p.Leu610Pro) c.1790T>C (p.Leu597Pro) c.1763T>C (p.Leu588Pro) c.1757T>C (p.Leu586Pro) c.1754T>C (p.Leu585Pro) c.1748T>C (p.Leu583Pro) c.1739T>C (p.Leu580Pro) c.1736T>C (p.Leu579Pro) c.1622T>C (p.Leu541Pro) c.1529T>C (p.Leu510Pro) n.515+6631A>G n.722+6631A>G c.1817T>C (p.Leu606Pro) c.1514T>C (p.Leu505Pro) c.1742T>C (p.Leu581Pro) n.4230T>C n.4886T>C n.5346T>C | dbSNP |
7 | g.148811716A>T | CA369713213 | EZH2 | n.3756T>A c.*918T>A (n.*918T>A) c.*752T>A (n.*752T>A) n.3575T>A n.2747T>A n.2172T>A n.2234T>A c.1856T>A (p.Leu619Gln) c.1724T>A (p.Leu575Gln) c.1841T>A (p.Leu614Gln) n.108T>A c.1688T>A (p.Leu563Gln) c.1814T>A (p.Leu605Gln) c.*1846T>A (n.*1846T>A) c.1865T>A (p.Leu622Gln) c.1838T>A (p.Leu613Gln) c.1712T>A (p.Leu571Gln) c.1880T>A (p.Leu627Gln) c.1853T>A (p.Leu618Gln) c.1832T>A (p.Leu611Gln) c.1829T>A (p.Leu610Gln) c.1790T>A (p.Leu597Gln) c.1763T>A (p.Leu588Gln) c.1757T>A (p.Leu586Gln) c.1754T>A (p.Leu585Gln) c.1748T>A (p.Leu583Gln) c.1739T>A (p.Leu580Gln) c.1736T>A (p.Leu579Gln) c.1622T>A (p.Leu541Gln) c.1529T>A (p.Leu510Gln) n.515+6631A>T n.722+6631A>T c.1817T>A (p.Leu606Gln) c.1514T>A (p.Leu505Gln) c.1742T>A (p.Leu581Gln) n.4230T>A n.4886T>A n.5346T>A | |
7 | g.148811717G>A | CA458345879 | EZH2 | n.3755C>T c.*917C>T (n.*917C>T) c.*751C>T (n.*751C>T) n.3574C>T n.2746C>T n.2171C>T n.2233C>T c.1855C>T (p.Leu619=) c.1723C>T (p.Leu575=) c.1840C>T (p.Leu614=) n.107C>T c.1687C>T (p.Leu563=) c.1813C>T (p.Leu605=) c.*1845C>T (n.*1845C>T) c.1864C>T (p.Leu622=) c.1837C>T (p.Leu613=) c.1711C>T (p.Leu571=) c.1879C>T (p.Leu627=) c.1852C>T (p.Leu618=) c.1831C>T (p.Leu611=) c.1828C>T (p.Leu610=) c.1789C>T (p.Leu597=) c.1762C>T (p.Leu588=) c.1756C>T (p.Leu586=) c.1753C>T (p.Leu585=) c.1747C>T (p.Leu583=) c.1738C>T (p.Leu580=) c.1735C>T (p.Leu579=) c.1621C>T (p.Leu541=) c.1528C>T (p.Leu510=) n.515+6632G>A n.722+6632G>A c.1816C>T (p.Leu606=) c.1513C>T (p.Leu505=) c.1741C>T (p.Leu581=) n.4229C>T n.4885C>T n.5345C>T | dbSNP |
7 | g.148811717G>C | CA369713215 | EZH2 | n.3755C>G c.*917C>G (n.*917C>G) c.*751C>G (n.*751C>G) n.3574C>G n.2746C>G n.2171C>G n.2233C>G c.1855C>G (p.Leu619Val) c.1723C>G (p.Leu575Val) c.1840C>G (p.Leu614Val) n.107C>G c.1687C>G (p.Leu563Val) c.1813C>G (p.Leu605Val) c.*1845C>G (n.*1845C>G) c.1864C>G (p.Leu622Val) c.1837C>G (p.Leu613Val) c.1711C>G (p.Leu571Val) c.1879C>G (p.Leu627Val) c.1852C>G (p.Leu618Val) c.1831C>G (p.Leu611Val) c.1828C>G (p.Leu610Val) c.1789C>G (p.Leu597Val) c.1762C>G (p.Leu588Val) c.1756C>G (p.Leu586Val) c.1753C>G (p.Leu585Val) c.1747C>G (p.Leu583Val) c.1738C>G (p.Leu580Val) c.1735C>G (p.Leu579Val) c.1621C>G (p.Leu541Val) c.1528C>G (p.Leu510Val) n.515+6632G>C n.722+6632G>C c.1816C>G (p.Leu606Val) c.1513C>G (p.Leu505Val) c.1741C>G (p.Leu581Val) n.4229C>G n.4885C>G n.5345C>G | dbSNP |
7 | g.148811717G>T | CA369713216 | EZH2 | n.3755C>A c.*917C>A (n.*917C>A) c.*751C>A (n.*751C>A) n.3574C>A n.2746C>A n.2171C>A n.2233C>A c.1855C>A (p.Leu619Ile) c.1723C>A (p.Leu575Ile) c.1840C>A (p.Leu614Ile) n.107C>A c.1687C>A (p.Leu563Ile) c.1813C>A (p.Leu605Ile) c.*1845C>A (n.*1845C>A) c.1864C>A (p.Leu622Ile) c.1837C>A (p.Leu613Ile) c.1711C>A (p.Leu571Ile) c.1879C>A (p.Leu627Ile) c.1852C>A (p.Leu618Ile) c.1831C>A (p.Leu611Ile) c.1828C>A (p.Leu610Ile) c.1789C>A (p.Leu597Ile) c.1762C>A (p.Leu588Ile) c.1756C>A (p.Leu586Ile) c.1753C>A (p.Leu585Ile) c.1747C>A (p.Leu583Ile) c.1738C>A (p.Leu580Ile) c.1735C>A (p.Leu579Ile) c.1621C>A (p.Leu541Ile) c.1528C>A (p.Leu510Ile) n.515+6632G>T n.722+6632G>T c.1816C>A (p.Leu606Ile) c.1513C>A (p.Leu505Ile) c.1741C>A (p.Leu581Ile) n.4229C>A n.4885C>A n.5345C>A | gnomAD v4 |
7 | g.148811718A>C | CA369713217 | EZH2 | n.3754T>G c.*916T>G (n.*916T>G) c.*750T>G (n.*750T>G) n.3573T>G n.2745T>G n.2170T>G n.2232T>G c.1854T>G (p.His618Gln) c.1722T>G (p.His574Gln) c.1839T>G (p.His613Gln) n.106T>G c.1686T>G (p.His562Gln) c.1812T>G (p.His604Gln) c.*1844T>G (n.*1844T>G) c.1863T>G (p.His621Gln) c.1836T>G (p.His612Gln) c.1710T>G (p.His570Gln) c.1878T>G (p.His626Gln) c.1851T>G (p.His617Gln) c.1830T>G (p.His610Gln) c.1827T>G (p.His609Gln) c.1788T>G (p.His596Gln) c.1761T>G (p.His587Gln) c.1755T>G (p.His585Gln) c.1752T>G (p.His584Gln) c.1746T>G (p.His582Gln) c.1737T>G (p.His579Gln) c.1734T>G (p.His578Gln) c.1620T>G (p.His540Gln) c.1527T>G (p.His509Gln) n.515+6633A>C n.722+6633A>C c.1815T>G (p.His605Gln) c.1512T>G (p.His504Gln) c.1740T>G (p.His580Gln) n.4228T>G n.4884T>G n.5344T>G | |
7 | g.148811718A>G | CA458345880 | EZH2 | n.3754T>C c.*916T>C (n.*916T>C) c.*750T>C (n.*750T>C) n.3573T>C n.2745T>C n.2170T>C n.2232T>C c.1854T>C (p.His618=) c.1722T>C (p.His574=) c.1839T>C (p.His613=) n.106T>C c.1686T>C (p.His562=) c.1812T>C (p.His604=) c.*1844T>C (n.*1844T>C) c.1863T>C (p.His621=) c.1836T>C (p.His612=) c.1710T>C (p.His570=) c.1878T>C (p.His626=) c.1851T>C (p.His617=) c.1830T>C (p.His610=) c.1827T>C (p.His609=) c.1788T>C (p.His596=) c.1761T>C (p.His587=) c.1755T>C (p.His585=) c.1752T>C (p.His584=) c.1746T>C (p.His582=) c.1737T>C (p.His579=) c.1734T>C (p.His578=) c.1620T>C (p.His540=) c.1527T>C (p.His509=) n.515+6633A>G n.722+6633A>G c.1815T>C (p.His605=) c.1512T>C (p.His504=) c.1740T>C (p.His580=) n.4228T>C n.4884T>C n.5344T>C | |
7 | g.148811718A>T | CA369713218 | EZH2 | n.3754T>A c.*916T>A (n.*916T>A) c.*750T>A (n.*750T>A) n.3573T>A n.2745T>A n.2170T>A n.2232T>A c.1854T>A (p.His618Gln) c.1722T>A (p.His574Gln) c.1839T>A (p.His613Gln) n.106T>A c.1686T>A (p.His562Gln) c.1812T>A (p.His604Gln) c.*1844T>A (n.*1844T>A) c.1863T>A (p.His621Gln) c.1836T>A (p.His612Gln) c.1710T>A (p.His570Gln) c.1878T>A (p.His626Gln) c.1851T>A (p.His617Gln) c.1830T>A (p.His610Gln) c.1827T>A (p.His609Gln) c.1788T>A (p.His596Gln) c.1761T>A (p.His587Gln) c.1755T>A (p.His585Gln) c.1752T>A (p.His584Gln) c.1746T>A (p.His582Gln) c.1737T>A (p.His579Gln) c.1734T>A (p.His578Gln) c.1620T>A (p.His540Gln) c.1527T>A (p.His509Gln) n.515+6633A>T n.722+6633A>T c.1815T>A (p.His605Gln) c.1512T>A (p.His504Gln) c.1740T>A (p.His580Gln) n.4228T>A n.4884T>A n.5344T>A | |
7 | g.148811719T>A | CA369713219 | EZH2 | n.3753A>T c.*915A>T (n.*915A>T) c.*749A>T (n.*749A>T) n.3572A>T n.2744A>T n.2169A>T n.2231A>T c.1853A>T (p.His618Leu) c.1721A>T (p.His574Leu) c.1838A>T (p.His613Leu) n.105A>T c.1685A>T (p.His562Leu) c.1811A>T (p.His604Leu) c.*1843A>T (n.*1843A>T) c.1862A>T (p.His621Leu) c.1835A>T (p.His612Leu) c.1709A>T (p.His570Leu) c.1877A>T (p.His626Leu) c.1850A>T (p.His617Leu) c.1829A>T (p.His610Leu) c.1826A>T (p.His609Leu) c.1787A>T (p.His596Leu) c.1760A>T (p.His587Leu) c.1754A>T (p.His585Leu) c.1751A>T (p.His584Leu) c.1745A>T (p.His582Leu) c.1736A>T (p.His579Leu) c.1733A>T (p.His578Leu) c.1619A>T (p.His540Leu) c.1526A>T (p.His509Leu) n.515+6634T>A n.722+6634T>A c.1814A>T (p.His605Leu) c.1511A>T (p.His504Leu) c.1739A>T (p.His580Leu) n.4227A>T n.4883A>T n.5343A>T | dbSNP |
7 | g.148811719T>C | CA369713220 | EZH2 | n.3753A>G c.*915A>G (n.*915A>G) c.*749A>G (n.*749A>G) n.3572A>G n.2744A>G n.2169A>G n.2231A>G c.1853A>G (p.His618Arg) c.1721A>G (p.His574Arg) c.1838A>G (p.His613Arg) n.105A>G c.1685A>G (p.His562Arg) c.1811A>G (p.His604Arg) c.*1843A>G (n.*1843A>G) c.1862A>G (p.His621Arg) c.1835A>G (p.His612Arg) c.1709A>G (p.His570Arg) c.1877A>G (p.His626Arg) c.1850A>G (p.His617Arg) c.1829A>G (p.His610Arg) c.1826A>G (p.His609Arg) c.1787A>G (p.His596Arg) c.1760A>G (p.His587Arg) c.1754A>G (p.His585Arg) c.1751A>G (p.His584Arg) c.1745A>G (p.His582Arg) c.1736A>G (p.His579Arg) c.1733A>G (p.His578Arg) c.1619A>G (p.His540Arg) c.1526A>G (p.His509Arg) n.515+6634T>C n.722+6634T>C c.1814A>G (p.His605Arg) c.1511A>G (p.His504Arg) c.1739A>G (p.His580Arg) n.4227A>G n.4883A>G n.5343A>G | dbSNP |
7 | g.148811719T>G | CA369713221 | EZH2 | n.3753A>C c.*915A>C (n.*915A>C) c.*749A>C (n.*749A>C) n.3572A>C n.2744A>C n.2169A>C n.2231A>C c.1853A>C (p.His618Pro) c.1721A>C (p.His574Pro) c.1838A>C (p.His613Pro) n.105A>C c.1685A>C (p.His562Pro) c.1811A>C (p.His604Pro) c.*1843A>C (n.*1843A>C) c.1862A>C (p.His621Pro) c.1835A>C (p.His612Pro) c.1709A>C (p.His570Pro) c.1877A>C (p.His626Pro) c.1850A>C (p.His617Pro) c.1829A>C (p.His610Pro) c.1826A>C (p.His609Pro) c.1787A>C (p.His596Pro) c.1760A>C (p.His587Pro) c.1754A>C (p.His585Pro) c.1751A>C (p.His584Pro) c.1745A>C (p.His582Pro) c.1736A>C (p.His579Pro) c.1733A>C (p.His578Pro) c.1619A>C (p.His540Pro) c.1526A>C (p.His509Pro) n.515+6634T>G n.722+6634T>G c.1814A>C (p.His605Pro) c.1511A>C (p.His504Pro) c.1739A>C (p.His580Pro) n.4227A>C n.4883A>C n.5343A>C | dbSNP |
7 | g.148811720G>A | CA369713222 | EZH2 | n.3752C>T c.*914C>T (n.*914C>T) c.*748C>T (n.*748C>T) n.3571C>T n.2743C>T n.2168C>T n.2230C>T c.1852C>T (p.His618Tyr) c.1720C>T (p.His574Tyr) c.1837C>T (p.His613Tyr) n.104C>T c.1684C>T (p.His562Tyr) c.1810C>T (p.His604Tyr) c.*1842C>T (n.*1842C>T) c.1861C>T (p.His621Tyr) c.1834C>T (p.His612Tyr) c.1708C>T (p.His570Tyr) c.1876C>T (p.His626Tyr) c.1849C>T (p.His617Tyr) c.1828C>T (p.His610Tyr) c.1825C>T (p.His609Tyr) c.1786C>T (p.His596Tyr) c.1759C>T (p.His587Tyr) c.1753C>T (p.His585Tyr) c.1750C>T (p.His584Tyr) c.1744C>T (p.His582Tyr) c.1735C>T (p.His579Tyr) c.1732C>T (p.His578Tyr) c.1618C>T (p.His540Tyr) c.1525C>T (p.His509Tyr) n.515+6635G>A n.722+6635G>A c.1813C>T (p.His605Tyr) c.1510C>T (p.His504Tyr) c.1738C>T (p.His580Tyr) n.4226C>T n.4882C>T n.5342C>T | |
7 | g.148811720G>C | CA369713223 | EZH2 | n.3752C>G c.*914C>G (n.*914C>G) c.*748C>G (n.*748C>G) n.3571C>G n.2743C>G n.2168C>G n.2230C>G c.1852C>G (p.His618Asp) c.1720C>G (p.His574Asp) c.1837C>G (p.His613Asp) n.104C>G c.1684C>G (p.His562Asp) c.1810C>G (p.His604Asp) c.*1842C>G (n.*1842C>G) c.1861C>G (p.His621Asp) c.1834C>G (p.His612Asp) c.1708C>G (p.His570Asp) c.1876C>G (p.His626Asp) c.1849C>G (p.His617Asp) c.1828C>G (p.His610Asp) c.1825C>G (p.His609Asp) c.1786C>G (p.His596Asp) c.1759C>G (p.His587Asp) c.1753C>G (p.His585Asp) c.1750C>G (p.His584Asp) c.1744C>G (p.His582Asp) c.1735C>G (p.His579Asp) c.1732C>G (p.His578Asp) c.1618C>G (p.His540Asp) c.1525C>G (p.His509Asp) n.515+6635G>C n.722+6635G>C c.1813C>G (p.His605Asp) c.1510C>G (p.His504Asp) c.1738C>G (p.His580Asp) n.4226C>G n.4882C>G n.5342C>G | dbSNP |
7 | g.148811720G>T | CA369713224 | EZH2 | n.3752C>A c.*914C>A (n.*914C>A) c.*748C>A (n.*748C>A) n.3571C>A n.2743C>A n.2168C>A n.2230C>A c.1852C>A (p.His618Asn) c.1720C>A (p.His574Asn) c.1837C>A (p.His613Asn) n.104C>A c.1684C>A (p.His562Asn) c.1810C>A (p.His604Asn) c.*1842C>A (n.*1842C>A) c.1861C>A (p.His621Asn) c.1834C>A (p.His612Asn) c.1708C>A (p.His570Asn) c.1876C>A (p.His626Asn) c.1849C>A (p.His617Asn) c.1828C>A (p.His610Asn) c.1825C>A (p.His609Asn) c.1786C>A (p.His596Asn) c.1759C>A (p.His587Asn) c.1753C>A (p.His585Asn) c.1750C>A (p.His584Asn) c.1744C>A (p.His582Asn) c.1735C>A (p.His579Asn) c.1732C>A (p.His578Asn) c.1618C>A (p.His540Asn) c.1525C>A (p.His509Asn) n.515+6635G>T n.722+6635G>T c.1813C>A (p.His605Asn) c.1510C>A (p.His504Asn) c.1738C>A (p.His580Asn) n.4226C>A n.4882C>A n.5342C>A | |
7 | g.148811721C>A | CA369713225 | EZH2 | n.3752-1G>T c.*914-1G>T (n.*914-1G>T) c.*748-1G>T (n.*748-1G>T) n.3571-1G>T n.2743-1G>T n.2168-1G>T n.2230-1G>T c.1852-1G>T (n.1852-1G>T) c.1720-1G>T (n.1720-1G>T) c.1837-1G>T (n.1837-1G>T) n.103G>T c.1684-1G>T (n.1684-1G>T) c.1810-1G>T (n.1810-1G>T) c.*1842-1G>T (n.*1842-1G>T) c.1861-1G>T (n.1861-1G>T) c.1834-1G>T (n.1834-1G>T) c.1708-1G>T (n.1708-1G>T) c.1876-1G>T (n.1876-1G>T) c.1849-1G>T (n.1849-1G>T) c.1828-1G>T (n.1828-1G>T) c.1825-1G>T (n.1825-1G>T) c.1786-1G>T (n.1786-1G>T) c.1759-1G>T (n.1759-1G>T) c.1753-1G>T (n.1753-1G>T) c.1750-1G>T (n.1750-1G>T) c.1744-1G>T (n.1744-1G>T) c.1735-1G>T (n.1735-1G>T) c.1732-1G>T (n.1732-1G>T) c.1618-1G>T (n.1618-1G>T) c.1525-1G>T (n.1525-1G>T) n.515+6636C>A n.722+6636C>A c.1813-1G>T (n.1813-1G>T) c.1510-1G>T (n.1510-1G>T) c.1738-1G>T (n.1738-1G>T) n.4226-1G>T n.4882-1G>T n.5342-1G>T | dbSNP gnomAD v4 |
7 | g.148811721C>G | CA369713226 | EZH2 | n.3752-1G>C c.*914-1G>C (n.*914-1G>C) c.*748-1G>C (n.*748-1G>C) n.3571-1G>C n.2743-1G>C n.2168-1G>C n.2230-1G>C c.1852-1G>C (n.1852-1G>C) c.1720-1G>C (n.1720-1G>C) c.1837-1G>C (n.1837-1G>C) n.103G>C c.1684-1G>C (n.1684-1G>C) c.1810-1G>C (n.1810-1G>C) c.*1842-1G>C (n.*1842-1G>C) c.1861-1G>C (n.1861-1G>C) c.1834-1G>C (n.1834-1G>C) c.1708-1G>C (n.1708-1G>C) c.1876-1G>C (n.1876-1G>C) c.1849-1G>C (n.1849-1G>C) c.1828-1G>C (n.1828-1G>C) c.1825-1G>C (n.1825-1G>C) c.1786-1G>C (n.1786-1G>C) c.1759-1G>C (n.1759-1G>C) c.1753-1G>C (n.1753-1G>C) c.1750-1G>C (n.1750-1G>C) c.1744-1G>C (n.1744-1G>C) c.1735-1G>C (n.1735-1G>C) c.1732-1G>C (n.1732-1G>C) c.1618-1G>C (n.1618-1G>C) c.1525-1G>C (n.1525-1G>C) n.515+6636C>G n.722+6636C>G c.1813-1G>C (n.1813-1G>C) c.1510-1G>C (n.1510-1G>C) c.1738-1G>C (n.1738-1G>C) n.4226-1G>C n.4882-1G>C n.5342-1G>C | dbSNP |
7 | g.148811721C>T | CA369713227 | EZH2 | n.3752-1G>A c.*914-1G>A (n.*914-1G>A) c.*748-1G>A (n.*748-1G>A) n.3571-1G>A n.2743-1G>A n.2168-1G>A n.2230-1G>A c.1852-1G>A (n.1852-1G>A) c.1720-1G>A (n.1720-1G>A) c.1837-1G>A (n.1837-1G>A) n.103G>A c.1684-1G>A (n.1684-1G>A) c.1810-1G>A (n.1810-1G>A) c.*1842-1G>A (n.*1842-1G>A) c.1861-1G>A (n.1861-1G>A) c.1834-1G>A (n.1834-1G>A) c.1708-1G>A (n.1708-1G>A) c.1876-1G>A (n.1876-1G>A) c.1849-1G>A (n.1849-1G>A) c.1828-1G>A (n.1828-1G>A) c.1825-1G>A (n.1825-1G>A) c.1786-1G>A (n.1786-1G>A) c.1759-1G>A (n.1759-1G>A) c.1753-1G>A (n.1753-1G>A) c.1750-1G>A (n.1750-1G>A) c.1744-1G>A (n.1744-1G>A) c.1735-1G>A (n.1735-1G>A) c.1732-1G>A (n.1732-1G>A) c.1618-1G>A (n.1618-1G>A) c.1525-1G>A (n.1525-1G>A) n.515+6636C>T n.722+6636C>T c.1813-1G>A (n.1813-1G>A) c.1510-1G>A (n.1510-1G>A) c.1738-1G>A (n.1738-1G>A) n.4226-1G>A n.4882-1G>A n.5342-1G>A | dbSNP gnomAD v4 |
7 | g.148811722T>A | CA369713228 | EZH2 | n.3752-2A>T c.*914-2A>T (n.*914-2A>T) c.*748-2A>T (n.*748-2A>T) n.3571-2A>T n.2743-2A>T n.2168-2A>T n.2230-2A>T c.1852-2A>T (n.1852-2A>T) c.1720-2A>T (n.1720-2A>T) c.1837-2A>T (n.1837-2A>T) n.102A>T c.1684-2A>T (n.1684-2A>T) c.1810-2A>T (n.1810-2A>T) c.*1842-2A>T (n.*1842-2A>T) c.1861-2A>T (n.1861-2A>T) c.1834-2A>T (n.1834-2A>T) c.1708-2A>T (n.1708-2A>T) c.1876-2A>T (n.1876-2A>T) c.1849-2A>T (n.1849-2A>T) c.1828-2A>T (n.1828-2A>T) c.1825-2A>T (n.1825-2A>T) c.1786-2A>T (n.1786-2A>T) c.1759-2A>T (n.1759-2A>T) c.1753-2A>T (n.1753-2A>T) c.1750-2A>T (n.1750-2A>T) c.1744-2A>T (n.1744-2A>T) c.1735-2A>T (n.1735-2A>T) c.1732-2A>T (n.1732-2A>T) c.1618-2A>T (n.1618-2A>T) c.1525-2A>T (n.1525-2A>T) n.515+6637T>A n.722+6637T>A c.1813-2A>T (n.1813-2A>T) c.1510-2A>T (n.1510-2A>T) c.1738-2A>T (n.1738-2A>T) n.4226-2A>T n.4882-2A>T n.5342-2A>T | dbSNP |
7 | g.148811722T>C | CA369713230 | EZH2 | n.3752-2A>G c.*914-2A>G (n.*914-2A>G) c.*748-2A>G (n.*748-2A>G) n.3571-2A>G n.2743-2A>G n.2168-2A>G n.2230-2A>G c.1852-2A>G (n.1852-2A>G) c.1720-2A>G (n.1720-2A>G) c.1837-2A>G (n.1837-2A>G) n.102A>G c.1684-2A>G (n.1684-2A>G) c.1810-2A>G (n.1810-2A>G) c.*1842-2A>G (n.*1842-2A>G) c.1861-2A>G (n.1861-2A>G) c.1834-2A>G (n.1834-2A>G) c.1708-2A>G (n.1708-2A>G) c.1876-2A>G (n.1876-2A>G) c.1849-2A>G (n.1849-2A>G) c.1828-2A>G (n.1828-2A>G) c.1825-2A>G (n.1825-2A>G) c.1786-2A>G (n.1786-2A>G) c.1759-2A>G (n.1759-2A>G) c.1753-2A>G (n.1753-2A>G) c.1750-2A>G (n.1750-2A>G) c.1744-2A>G (n.1744-2A>G) c.1735-2A>G (n.1735-2A>G) c.1732-2A>G (n.1732-2A>G) c.1618-2A>G (n.1618-2A>G) c.1525-2A>G (n.1525-2A>G) n.515+6637T>C n.722+6637T>C c.1813-2A>G (n.1813-2A>G) c.1510-2A>G (n.1510-2A>G) c.1738-2A>G (n.1738-2A>G) n.4226-2A>G n.4882-2A>G n.5342-2A>G | COSMIC COSMIC |
7 | g.148811722T>G | CA369713229 | EZH2 | n.3752-2A>C c.*914-2A>C (n.*914-2A>C) c.*748-2A>C (n.*748-2A>C) n.3571-2A>C n.2743-2A>C n.2168-2A>C n.2230-2A>C c.1852-2A>C (n.1852-2A>C) c.1720-2A>C (n.1720-2A>C) c.1837-2A>C (n.1837-2A>C) n.102A>C c.1684-2A>C (n.1684-2A>C) c.1810-2A>C (n.1810-2A>C) c.*1842-2A>C (n.*1842-2A>C) c.1861-2A>C (n.1861-2A>C) c.1834-2A>C (n.1834-2A>C) c.1708-2A>C (n.1708-2A>C) c.1876-2A>C (n.1876-2A>C) c.1849-2A>C (n.1849-2A>C) c.1828-2A>C (n.1828-2A>C) c.1825-2A>C (n.1825-2A>C) c.1786-2A>C (n.1786-2A>C) c.1759-2A>C (n.1759-2A>C) c.1753-2A>C (n.1753-2A>C) c.1750-2A>C (n.1750-2A>C) c.1744-2A>C (n.1744-2A>C) c.1735-2A>C (n.1735-2A>C) c.1732-2A>C (n.1732-2A>C) c.1618-2A>C (n.1618-2A>C) c.1525-2A>C (n.1525-2A>C) n.515+6637T>G n.722+6637T>G c.1813-2A>C (n.1813-2A>C) c.1510-2A>C (n.1510-2A>C) c.1738-2A>C (n.1738-2A>C) n.4226-2A>C n.4882-2A>C n.5342-2A>C | |
7 | g.148811723A= | CA1751424167 | EZH2 | n.3752-3T= c.*914-3T= (n.*914-3T=) c.*748-3T= (n.*748-3T=) n.3571-3T= n.2743-3T= n.2168-3T= n.2230-3T= c.1852-3T= (n.1852-3T=) c.1720-3T= (n.1720-3T=) c.1837-3T= (n.1837-3T=) n.101T= c.1684-3T= (n.1684-3T=) c.1810-3T= (n.1810-3T=) c.*1842-3T= (n.*1842-3T=) c.1861-3T= (n.1861-3T=) c.1834-3T= (n.1834-3T=) c.1708-3T= (n.1708-3T=) c.1876-3T= (n.1876-3T=) c.1849-3T= (n.1849-3T=) c.1828-3T= (n.1828-3T=) c.1825-3T= (n.1825-3T=) c.1786-3T= (n.1786-3T=) c.1759-3T= (n.1759-3T=) c.1753-3T= (n.1753-3T=) c.1750-3T= (n.1750-3T=) c.1744-3T= (n.1744-3T=) c.1735-3T= (n.1735-3T=) c.1732-3T= (n.1732-3T=) c.1618-3T= (n.1618-3T=) c.1525-3T= (n.1525-3T=) n.515+6638A= n.722+6638A= c.1813-3T= (n.1813-3T=) c.1510-3T= (n.1510-3T=) c.1738-3T= (n.1738-3T=) n.4226-3T= n.4882-3T= n.5342-3T= | |
7 | g.148811723A>G | CA1751424168 | EZH2 | n.3752-3T>C c.*914-3T>C (n.*914-3T>C) c.*748-3T>C (n.*748-3T>C) n.3571-3T>C n.2743-3T>C n.2168-3T>C n.2230-3T>C c.1852-3T>C (n.1852-3T>C) c.1720-3T>C (n.1720-3T>C) c.1837-3T>C (n.1837-3T>C) n.101T>C c.1684-3T>C (n.1684-3T>C) c.1810-3T>C (n.1810-3T>C) c.*1842-3T>C (n.*1842-3T>C) c.1861-3T>C (n.1861-3T>C) c.1834-3T>C (n.1834-3T>C) c.1708-3T>C (n.1708-3T>C) c.1876-3T>C (n.1876-3T>C) c.1849-3T>C (n.1849-3T>C) c.1828-3T>C (n.1828-3T>C) c.1825-3T>C (n.1825-3T>C) c.1786-3T>C (n.1786-3T>C) c.1759-3T>C (n.1759-3T>C) c.1753-3T>C (n.1753-3T>C) c.1750-3T>C (n.1750-3T>C) c.1744-3T>C (n.1744-3T>C) c.1735-3T>C (n.1735-3T>C) c.1732-3T>C (n.1732-3T>C) c.1618-3T>C (n.1618-3T>C) c.1525-3T>C (n.1525-3T>C) n.515+6638A>G n.722+6638A>G c.1813-3T>C (n.1813-3T>C) c.1510-3T>C (n.1510-3T>C) c.1738-3T>C (n.1738-3T>C) n.4226-3T>C n.4882-3T>C n.5342-3T>C | dbSNP gnomAD v4 |
7 | g.148811724G>A | CA2716263234 | EZH2 | n.3752-4C>T c.*914-4C>T (n.*914-4C>T) c.*748-4C>T (n.*748-4C>T) n.3571-4C>T n.2743-4C>T n.2168-4C>T n.2230-4C>T c.1852-4C>T (n.1852-4C>T) c.1720-4C>T (n.1720-4C>T) c.1837-4C>T (n.1837-4C>T) n.100C>T c.1684-4C>T (n.1684-4C>T) c.1810-4C>T (n.1810-4C>T) c.*1842-4C>T (n.*1842-4C>T) c.1861-4C>T (n.1861-4C>T) c.1834-4C>T (n.1834-4C>T) c.1708-4C>T (n.1708-4C>T) c.1876-4C>T (n.1876-4C>T) c.1849-4C>T (n.1849-4C>T) c.1828-4C>T (n.1828-4C>T) c.1825-4C>T (n.1825-4C>T) c.1786-4C>T (n.1786-4C>T) c.1759-4C>T (n.1759-4C>T) c.1753-4C>T (n.1753-4C>T) c.1750-4C>T (n.1750-4C>T) c.1744-4C>T (n.1744-4C>T) c.1735-4C>T (n.1735-4C>T) c.1732-4C>T (n.1732-4C>T) c.1618-4C>T (n.1618-4C>T) c.1525-4C>T (n.1525-4C>T) n.515+6639G>A n.722+6639G>A c.1813-4C>T (n.1813-4C>T) c.1510-4C>T (n.1510-4C>T) c.1738-4C>T (n.1738-4C>T) n.4226-4C>T n.4882-4C>T n.5342-4C>T | dbSNP |
7 | g.148811724G>C | CA2579086421 | EZH2 | n.3752-4C>G c.*914-4C>G (n.*914-4C>G) c.*748-4C>G (n.*748-4C>G) n.3571-4C>G n.2743-4C>G n.2168-4C>G n.2230-4C>G c.1852-4C>G (n.1852-4C>G) c.1720-4C>G (n.1720-4C>G) c.1837-4C>G (n.1837-4C>G) n.100C>G c.1684-4C>G (n.1684-4C>G) c.1810-4C>G (n.1810-4C>G) c.*1842-4C>G (n.*1842-4C>G) c.1861-4C>G (n.1861-4C>G) c.1834-4C>G (n.1834-4C>G) c.1708-4C>G (n.1708-4C>G) c.1876-4C>G (n.1876-4C>G) c.1849-4C>G (n.1849-4C>G) c.1828-4C>G (n.1828-4C>G) c.1825-4C>G (n.1825-4C>G) c.1786-4C>G (n.1786-4C>G) c.1759-4C>G (n.1759-4C>G) c.1753-4C>G (n.1753-4C>G) c.1750-4C>G (n.1750-4C>G) c.1744-4C>G (n.1744-4C>G) c.1735-4C>G (n.1735-4C>G) c.1732-4C>G (n.1732-4C>G) c.1618-4C>G (n.1618-4C>G) c.1525-4C>G (n.1525-4C>G) n.515+6639G>C n.722+6639G>C c.1813-4C>G (n.1813-4C>G) c.1510-4C>G (n.1510-4C>G) c.1738-4C>G (n.1738-4C>G) n.4226-4C>G n.4882-4C>G n.5342-4C>G | ClinVar gnomAD v4 |
7 | g.148811724G>T | CA2685465193 | EZH2 | n.3752-4C>A c.*914-4C>A (n.*914-4C>A) c.*748-4C>A (n.*748-4C>A) n.3571-4C>A n.2743-4C>A n.2168-4C>A n.2230-4C>A c.1852-4C>A (n.1852-4C>A) c.1720-4C>A (n.1720-4C>A) c.1837-4C>A (n.1837-4C>A) n.100C>A c.1684-4C>A (n.1684-4C>A) c.1810-4C>A (n.1810-4C>A) c.*1842-4C>A (n.*1842-4C>A) c.1861-4C>A (n.1861-4C>A) c.1834-4C>A (n.1834-4C>A) c.1708-4C>A (n.1708-4C>A) c.1876-4C>A (n.1876-4C>A) c.1849-4C>A (n.1849-4C>A) c.1828-4C>A (n.1828-4C>A) c.1825-4C>A (n.1825-4C>A) c.1786-4C>A (n.1786-4C>A) c.1759-4C>A (n.1759-4C>A) c.1753-4C>A (n.1753-4C>A) c.1750-4C>A (n.1750-4C>A) c.1744-4C>A (n.1744-4C>A) c.1735-4C>A (n.1735-4C>A) c.1732-4C>A (n.1732-4C>A) c.1618-4C>A (n.1618-4C>A) c.1525-4C>A (n.1525-4C>A) n.515+6639G>T n.722+6639G>T c.1813-4C>A (n.1813-4C>A) c.1510-4C>A (n.1510-4C>A) c.1738-4C>A (n.1738-4C>A) n.4226-4C>A n.4882-4C>A n.5342-4C>A | gnomAD v4 |
7 | g.148811725A= | CA1751424169 | EZH2 | n.3752-5T= c.*914-5T= (n.*914-5T=) c.*748-5T= (n.*748-5T=) n.3571-5T= n.2743-5T= n.2168-5T= n.2230-5T= c.1852-5T= (n.1852-5T=) c.1720-5T= (n.1720-5T=) c.1837-5T= (n.1837-5T=) n.99T= c.1684-5T= (n.1684-5T=) c.1810-5T= (n.1810-5T=) c.*1842-5T= (n.*1842-5T=) c.1861-5T= (n.1861-5T=) c.1834-5T= (n.1834-5T=) c.1708-5T= (n.1708-5T=) c.1876-5T= (n.1876-5T=) c.1849-5T= (n.1849-5T=) c.1828-5T= (n.1828-5T=) c.1825-5T= (n.1825-5T=) c.1786-5T= (n.1786-5T=) c.1759-5T= (n.1759-5T=) c.1753-5T= (n.1753-5T=) c.1750-5T= (n.1750-5T=) c.1744-5T= (n.1744-5T=) c.1735-5T= (n.1735-5T=) c.1732-5T= (n.1732-5T=) c.1618-5T= (n.1618-5T=) c.1525-5T= (n.1525-5T=) n.515+6640A= n.722+6640A= c.1813-5T= (n.1813-5T=) c.1510-5T= (n.1510-5T=) c.1738-5T= (n.1738-5T=) n.4226-5T= n.4882-5T= n.5342-5T= | |
7 | g.148811725A>C | CA1139532483 | EZH2 | n.3752-5T>G c.*914-5T>G (n.*914-5T>G) c.*748-5T>G (n.*748-5T>G) n.3571-5T>G n.2743-5T>G n.2168-5T>G n.2230-5T>G c.1852-5T>G (n.1852-5T>G) c.1720-5T>G (n.1720-5T>G) c.1837-5T>G (n.1837-5T>G) n.99T>G c.1684-5T>G (n.1684-5T>G) c.1810-5T>G (n.1810-5T>G) c.*1842-5T>G (n.*1842-5T>G) c.1861-5T>G (n.1861-5T>G) c.1834-5T>G (n.1834-5T>G) c.1708-5T>G (n.1708-5T>G) c.1876-5T>G (n.1876-5T>G) c.1849-5T>G (n.1849-5T>G) c.1828-5T>G (n.1828-5T>G) c.1825-5T>G (n.1825-5T>G) c.1786-5T>G (n.1786-5T>G) c.1759-5T>G (n.1759-5T>G) c.1753-5T>G (n.1753-5T>G) c.1750-5T>G (n.1750-5T>G) c.1744-5T>G (n.1744-5T>G) c.1735-5T>G (n.1735-5T>G) c.1732-5T>G (n.1732-5T>G) c.1618-5T>G (n.1618-5T>G) c.1525-5T>G (n.1525-5T>G) n.515+6640A>C n.722+6640A>C c.1813-5T>G (n.1813-5T>G) c.1510-5T>G (n.1510-5T>G) c.1738-5T>G (n.1738-5T>G) n.4226-5T>G n.4882-5T>G n.5342-5T>G | gnomAD v4 |
7 | g.148811725A>G | CA4547771 | EZH2 | n.3752-5T>C c.*914-5T>C (n.*914-5T>C) c.*748-5T>C (n.*748-5T>C) n.3571-5T>C n.2743-5T>C n.2168-5T>C n.2230-5T>C c.1852-5T>C (n.1852-5T>C) c.1720-5T>C (n.1720-5T>C) c.1837-5T>C (n.1837-5T>C) n.99T>C c.1684-5T>C (n.1684-5T>C) c.1810-5T>C (n.1810-5T>C) c.*1842-5T>C (n.*1842-5T>C) c.1861-5T>C (n.1861-5T>C) c.1834-5T>C (n.1834-5T>C) c.1708-5T>C (n.1708-5T>C) c.1876-5T>C (n.1876-5T>C) c.1849-5T>C (n.1849-5T>C) c.1828-5T>C (n.1828-5T>C) c.1825-5T>C (n.1825-5T>C) c.1786-5T>C (n.1786-5T>C) c.1759-5T>C (n.1759-5T>C) c.1753-5T>C (n.1753-5T>C) c.1750-5T>C (n.1750-5T>C) c.1744-5T>C (n.1744-5T>C) c.1735-5T>C (n.1735-5T>C) c.1732-5T>C (n.1732-5T>C) c.1618-5T>C (n.1618-5T>C) c.1525-5T>C (n.1525-5T>C) n.515+6640A>G n.722+6640A>G c.1813-5T>C (n.1813-5T>C) c.1510-5T>C (n.1510-5T>C) c.1738-5T>C (n.1738-5T>C) n.4226-5T>C n.4882-5T>C n.5342-5T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.148811726G>A | CA172167 | EZH2 | n.3752-6C>T c.*914-6C>T (n.*914-6C>T) c.*748-6C>T (n.*748-6C>T) n.3571-6C>T n.2743-6C>T n.2168-6C>T n.2230-6C>T c.1852-6C>T (n.1852-6C>T) c.1720-6C>T (n.1720-6C>T) c.1837-6C>T (n.1837-6C>T) n.98C>T c.1684-6C>T (n.1684-6C>T) c.1810-6C>T (n.1810-6C>T) c.*1842-6C>T (n.*1842-6C>T) c.1861-6C>T (n.1861-6C>T) c.1834-6C>T (n.1834-6C>T) c.1708-6C>T (n.1708-6C>T) c.1876-6C>T (n.1876-6C>T) c.1849-6C>T (n.1849-6C>T) c.1828-6C>T (n.1828-6C>T) c.1825-6C>T (n.1825-6C>T) c.1786-6C>T (n.1786-6C>T) c.1759-6C>T (n.1759-6C>T) c.1753-6C>T (n.1753-6C>T) c.1750-6C>T (n.1750-6C>T) c.1744-6C>T (n.1744-6C>T) c.1735-6C>T (n.1735-6C>T) c.1732-6C>T (n.1732-6C>T) c.1618-6C>T (n.1618-6C>T) c.1525-6C>T (n.1525-6C>T) n.515+6641G>A n.722+6641G>A c.1813-6C>T (n.1813-6C>T) c.1510-6C>T (n.1510-6C>T) c.1738-6C>T (n.1738-6C>T) n.4226-6C>T n.4882-6C>T n.5342-6C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.148811726G>C | CA2685465194 | EZH2 | n.3752-6C>G c.*914-6C>G (n.*914-6C>G) c.*748-6C>G (n.*748-6C>G) n.3571-6C>G n.2743-6C>G n.2168-6C>G n.2230-6C>G c.1852-6C>G (n.1852-6C>G) c.1720-6C>G (n.1720-6C>G) c.1837-6C>G (n.1837-6C>G) n.98C>G c.1684-6C>G (n.1684-6C>G) c.1810-6C>G (n.1810-6C>G) c.*1842-6C>G (n.*1842-6C>G) c.1861-6C>G (n.1861-6C>G) c.1834-6C>G (n.1834-6C>G) c.1708-6C>G (n.1708-6C>G) c.1876-6C>G (n.1876-6C>G) c.1849-6C>G (n.1849-6C>G) c.1828-6C>G (n.1828-6C>G) c.1825-6C>G (n.1825-6C>G) c.1786-6C>G (n.1786-6C>G) c.1759-6C>G (n.1759-6C>G) c.1753-6C>G (n.1753-6C>G) c.1750-6C>G (n.1750-6C>G) c.1744-6C>G (n.1744-6C>G) c.1735-6C>G (n.1735-6C>G) c.1732-6C>G (n.1732-6C>G) c.1618-6C>G (n.1618-6C>G) c.1525-6C>G (n.1525-6C>G) n.515+6641G>C n.722+6641G>C c.1813-6C>G (n.1813-6C>G) c.1510-6C>G (n.1510-6C>G) c.1738-6C>G (n.1738-6C>G) n.4226-6C>G n.4882-6C>G n.5342-6C>G | dbSNP gnomAD v4 |
7 | g.148811726G= | CA1751424170 | EZH2 | n.3752-6C= c.*914-6C= (n.*914-6C=) c.*748-6C= (n.*748-6C=) n.3571-6C= n.2743-6C= n.2168-6C= n.2230-6C= c.1852-6C= (n.1852-6C=) c.1720-6C= (n.1720-6C=) c.1837-6C= (n.1837-6C=) n.98C= c.1684-6C= (n.1684-6C=) c.1810-6C= (n.1810-6C=) c.*1842-6C= (n.*1842-6C=) c.1861-6C= (n.1861-6C=) c.1834-6C= (n.1834-6C=) c.1708-6C= (n.1708-6C=) c.1876-6C= (n.1876-6C=) c.1849-6C= (n.1849-6C=) c.1828-6C= (n.1828-6C=) c.1825-6C= (n.1825-6C=) c.1786-6C= (n.1786-6C=) c.1759-6C= (n.1759-6C=) c.1753-6C= (n.1753-6C=) c.1750-6C= (n.1750-6C=) c.1744-6C= (n.1744-6C=) c.1735-6C= (n.1735-6C=) c.1732-6C= (n.1732-6C=) c.1618-6C= (n.1618-6C=) c.1525-6C= (n.1525-6C=) n.515+6641G= n.722+6641G= c.1813-6C= (n.1813-6C=) c.1510-6C= (n.1510-6C=) c.1738-6C= (n.1738-6C=) n.4226-6C= n.4882-6C= n.5342-6C= | |
7 | g.148811726G>T | CA2685465195 | EZH2 | n.3752-6C>A c.*914-6C>A (n.*914-6C>A) c.*748-6C>A (n.*748-6C>A) n.3571-6C>A n.2743-6C>A n.2168-6C>A n.2230-6C>A c.1852-6C>A (n.1852-6C>A) c.1720-6C>A (n.1720-6C>A) c.1837-6C>A (n.1837-6C>A) n.98C>A c.1684-6C>A (n.1684-6C>A) c.1810-6C>A (n.1810-6C>A) c.*1842-6C>A (n.*1842-6C>A) c.1861-6C>A (n.1861-6C>A) c.1834-6C>A (n.1834-6C>A) c.1708-6C>A (n.1708-6C>A) c.1876-6C>A (n.1876-6C>A) c.1849-6C>A (n.1849-6C>A) c.1828-6C>A (n.1828-6C>A) c.1825-6C>A (n.1825-6C>A) c.1786-6C>A (n.1786-6C>A) c.1759-6C>A (n.1759-6C>A) c.1753-6C>A (n.1753-6C>A) c.1750-6C>A (n.1750-6C>A) c.1744-6C>A (n.1744-6C>A) c.1735-6C>A (n.1735-6C>A) c.1732-6C>A (n.1732-6C>A) c.1618-6C>A (n.1618-6C>A) c.1525-6C>A (n.1525-6C>A) n.515+6641G>T n.722+6641G>T c.1813-6C>A (n.1813-6C>A) c.1510-6C>A (n.1510-6C>A) c.1738-6C>A (n.1738-6C>A) n.4226-6C>A n.4882-6C>A n.5342-6C>A | gnomAD v4 |
7 | g.148811727A= | CA1751424171 | EZH2 | n.3752-7T= c.*914-7T= (n.*914-7T=) c.*748-7T= (n.*748-7T=) n.3571-7T= n.2743-7T= n.2168-7T= n.2230-7T= c.1852-7T= (n.1852-7T=) c.1720-7T= (n.1720-7T=) c.1837-7T= (n.1837-7T=) n.97T= c.1684-7T= (n.1684-7T=) c.1810-7T= (n.1810-7T=) c.*1842-7T= (n.*1842-7T=) c.1861-7T= (n.1861-7T=) c.1834-7T= (n.1834-7T=) c.1708-7T= (n.1708-7T=) c.1876-7T= (n.1876-7T=) c.1849-7T= (n.1849-7T=) c.1828-7T= (n.1828-7T=) c.1825-7T= (n.1825-7T=) c.1786-7T= (n.1786-7T=) c.1759-7T= (n.1759-7T=) c.1753-7T= (n.1753-7T=) c.1750-7T= (n.1750-7T=) c.1744-7T= (n.1744-7T=) c.1735-7T= (n.1735-7T=) c.1732-7T= (n.1732-7T=) c.1618-7T= (n.1618-7T=) c.1525-7T= (n.1525-7T=) n.515+6642A= n.722+6642A= c.1813-7T= (n.1813-7T=) c.1510-7T= (n.1510-7T=) c.1738-7T= (n.1738-7T=) n.4226-7T= n.4882-7T= n.5342-7T= | |
7 | g.148811727A>G | CA578647565 | EZH2 | n.3752-7T>C c.*914-7T>C (n.*914-7T>C) c.*748-7T>C (n.*748-7T>C) n.3571-7T>C n.2743-7T>C n.2168-7T>C n.2230-7T>C c.1852-7T>C (n.1852-7T>C) c.1720-7T>C (n.1720-7T>C) c.1837-7T>C (n.1837-7T>C) n.97T>C c.1684-7T>C (n.1684-7T>C) c.1810-7T>C (n.1810-7T>C) c.*1842-7T>C (n.*1842-7T>C) c.1861-7T>C (n.1861-7T>C) c.1834-7T>C (n.1834-7T>C) c.1708-7T>C (n.1708-7T>C) c.1876-7T>C (n.1876-7T>C) c.1849-7T>C (n.1849-7T>C) c.1828-7T>C (n.1828-7T>C) c.1825-7T>C (n.1825-7T>C) c.1786-7T>C (n.1786-7T>C) c.1759-7T>C (n.1759-7T>C) c.1753-7T>C (n.1753-7T>C) c.1750-7T>C (n.1750-7T>C) c.1744-7T>C (n.1744-7T>C) c.1735-7T>C (n.1735-7T>C) c.1732-7T>C (n.1732-7T>C) c.1618-7T>C (n.1618-7T>C) c.1525-7T>C (n.1525-7T>C) n.515+6642A>G n.722+6642A>G c.1813-7T>C (n.1813-7T>C) c.1510-7T>C (n.1510-7T>C) c.1738-7T>C (n.1738-7T>C) n.4226-7T>C n.4882-7T>C n.5342-7T>C | dbSNP gnomAD v2 gnomAD v4 |
7 | g.148811728A= | CA1751424172 | EZH2 | n.3752-8T= c.*914-8T= (n.*914-8T=) c.*748-8T= (n.*748-8T=) n.3571-8T= n.2743-8T= n.2168-8T= n.2230-8T= c.1852-8T= (n.1852-8T=) c.1720-8T= (n.1720-8T=) c.1837-8T= (n.1837-8T=) n.96T= c.1684-8T= (n.1684-8T=) c.1810-8T= (n.1810-8T=) c.*1842-8T= (n.*1842-8T=) c.1861-8T= (n.1861-8T=) c.1834-8T= (n.1834-8T=) c.1708-8T= (n.1708-8T=) c.1876-8T= (n.1876-8T=) c.1849-8T= (n.1849-8T=) c.1828-8T= (n.1828-8T=) c.1825-8T= (n.1825-8T=) c.1786-8T= (n.1786-8T=) c.1759-8T= (n.1759-8T=) c.1753-8T= (n.1753-8T=) c.1750-8T= (n.1750-8T=) c.1744-8T= (n.1744-8T=) c.1735-8T= (n.1735-8T=) c.1732-8T= (n.1732-8T=) c.1618-8T= (n.1618-8T=) c.1525-8T= (n.1525-8T=) n.515+6643A= n.722+6643A= c.1813-8T= (n.1813-8T=) c.1510-8T= (n.1510-8T=) c.1738-8T= (n.1738-8T=) n.4226-8T= n.4882-8T= n.5342-8T= | |
7 | g.148811728A>C | CA915940459 | EZH2 | n.3752-8T>G c.*914-8T>G (n.*914-8T>G) c.*748-8T>G (n.*748-8T>G) n.3571-8T>G n.2743-8T>G n.2168-8T>G n.2230-8T>G c.1852-8T>G (n.1852-8T>G) c.1720-8T>G (n.1720-8T>G) c.1837-8T>G (n.1837-8T>G) n.96T>G c.1684-8T>G (n.1684-8T>G) c.1810-8T>G (n.1810-8T>G) c.*1842-8T>G (n.*1842-8T>G) c.1861-8T>G (n.1861-8T>G) c.1834-8T>G (n.1834-8T>G) c.1708-8T>G (n.1708-8T>G) c.1876-8T>G (n.1876-8T>G) c.1849-8T>G (n.1849-8T>G) c.1828-8T>G (n.1828-8T>G) c.1825-8T>G (n.1825-8T>G) c.1786-8T>G (n.1786-8T>G) c.1759-8T>G (n.1759-8T>G) c.1753-8T>G (n.1753-8T>G) c.1750-8T>G (n.1750-8T>G) c.1744-8T>G (n.1744-8T>G) c.1735-8T>G (n.1735-8T>G) c.1732-8T>G (n.1732-8T>G) c.1618-8T>G (n.1618-8T>G) c.1525-8T>G (n.1525-8T>G) n.515+6643A>C n.722+6643A>C c.1813-8T>G (n.1813-8T>G) c.1510-8T>G (n.1510-8T>G) c.1738-8T>G (n.1738-8T>G) n.4226-8T>G n.4882-8T>G n.5342-8T>G | |
7 | g.148811728A>G | CA578647566 | EZH2 | n.3752-8T>C c.*914-8T>C (n.*914-8T>C) c.*748-8T>C (n.*748-8T>C) n.3571-8T>C n.2743-8T>C n.2168-8T>C n.2230-8T>C c.1852-8T>C (n.1852-8T>C) c.1720-8T>C (n.1720-8T>C) c.1837-8T>C (n.1837-8T>C) n.96T>C c.1684-8T>C (n.1684-8T>C) c.1810-8T>C (n.1810-8T>C) c.*1842-8T>C (n.*1842-8T>C) c.1861-8T>C (n.1861-8T>C) c.1834-8T>C (n.1834-8T>C) c.1708-8T>C (n.1708-8T>C) c.1876-8T>C (n.1876-8T>C) c.1849-8T>C (n.1849-8T>C) c.1828-8T>C (n.1828-8T>C) c.1825-8T>C (n.1825-8T>C) c.1786-8T>C (n.1786-8T>C) c.1759-8T>C (n.1759-8T>C) c.1753-8T>C (n.1753-8T>C) c.1750-8T>C (n.1750-8T>C) c.1744-8T>C (n.1744-8T>C) c.1735-8T>C (n.1735-8T>C) c.1732-8T>C (n.1732-8T>C) c.1618-8T>C (n.1618-8T>C) c.1525-8T>C (n.1525-8T>C) n.515+6643A>G n.722+6643A>G c.1813-8T>C (n.1813-8T>C) c.1510-8T>C (n.1510-8T>C) c.1738-8T>C (n.1738-8T>C) n.4226-8T>C n.4882-8T>C n.5342-8T>C | dbSNP gnomAD v2 gnomAD v4 |
7 | g.148811729T>A | CA578647569 | EZH2 | n.3752-9A>T c.*914-9A>T (n.*914-9A>T) c.*748-9A>T (n.*748-9A>T) n.3571-9A>T n.2743-9A>T n.2168-9A>T n.2230-9A>T c.1852-9A>T (n.1852-9A>T) c.1720-9A>T (n.1720-9A>T) c.1837-9A>T (n.1837-9A>T) n.95A>T c.1684-9A>T (n.1684-9A>T) c.1810-9A>T (n.1810-9A>T) c.*1842-9A>T (n.*1842-9A>T) c.1861-9A>T (n.1861-9A>T) c.1834-9A>T (n.1834-9A>T) c.1708-9A>T (n.1708-9A>T) c.1876-9A>T (n.1876-9A>T) c.1849-9A>T (n.1849-9A>T) c.1828-9A>T (n.1828-9A>T) c.1825-9A>T (n.1825-9A>T) c.1786-9A>T (n.1786-9A>T) c.1759-9A>T (n.1759-9A>T) c.1753-9A>T (n.1753-9A>T) c.1750-9A>T (n.1750-9A>T) c.1744-9A>T (n.1744-9A>T) c.1735-9A>T (n.1735-9A>T) c.1732-9A>T (n.1732-9A>T) c.1618-9A>T (n.1618-9A>T) c.1525-9A>T (n.1525-9A>T) n.515+6644T>A n.722+6644T>A c.1813-9A>T (n.1813-9A>T) c.1510-9A>T (n.1510-9A>T) c.1738-9A>T (n.1738-9A>T) n.4226-9A>T n.4882-9A>T n.5342-9A>T | dbSNP gnomAD v2 gnomAD v4 |
7 | g.148811729T>C | CA4547772 | EZH2 | n.3752-9A>G c.*914-9A>G (n.*914-9A>G) c.*748-9A>G (n.*748-9A>G) n.3571-9A>G n.2743-9A>G n.2168-9A>G n.2230-9A>G c.1852-9A>G (n.1852-9A>G) c.1720-9A>G (n.1720-9A>G) c.1837-9A>G (n.1837-9A>G) n.95A>G c.1684-9A>G (n.1684-9A>G) c.1810-9A>G (n.1810-9A>G) c.*1842-9A>G (n.*1842-9A>G) c.1861-9A>G (n.1861-9A>G) c.1834-9A>G (n.1834-9A>G) c.1708-9A>G (n.1708-9A>G) c.1876-9A>G (n.1876-9A>G) c.1849-9A>G (n.1849-9A>G) c.1828-9A>G (n.1828-9A>G) c.1825-9A>G (n.1825-9A>G) c.1786-9A>G (n.1786-9A>G) c.1759-9A>G (n.1759-9A>G) c.1753-9A>G (n.1753-9A>G) c.1750-9A>G (n.1750-9A>G) c.1744-9A>G (n.1744-9A>G) c.1735-9A>G (n.1735-9A>G) c.1732-9A>G (n.1732-9A>G) c.1618-9A>G (n.1618-9A>G) c.1525-9A>G (n.1525-9A>G) n.515+6644T>C n.722+6644T>C c.1813-9A>G (n.1813-9A>G) c.1510-9A>G (n.1510-9A>G) c.1738-9A>G (n.1738-9A>G) n.4226-9A>G n.4882-9A>G n.5342-9A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.148811729T>G | CA4547773 | EZH2 | n.3752-9A>C c.*914-9A>C (n.*914-9A>C) c.*748-9A>C (n.*748-9A>C) n.3571-9A>C n.2743-9A>C n.2168-9A>C n.2230-9A>C c.1852-9A>C (n.1852-9A>C) c.1720-9A>C (n.1720-9A>C) c.1837-9A>C (n.1837-9A>C) n.95A>C c.1684-9A>C (n.1684-9A>C) c.1810-9A>C (n.1810-9A>C) c.*1842-9A>C (n.*1842-9A>C) c.1861-9A>C (n.1861-9A>C) c.1834-9A>C (n.1834-9A>C) c.1708-9A>C (n.1708-9A>C) c.1876-9A>C (n.1876-9A>C) c.1849-9A>C (n.1849-9A>C) c.1828-9A>C (n.1828-9A>C) c.1825-9A>C (n.1825-9A>C) c.1786-9A>C (n.1786-9A>C) c.1759-9A>C (n.1759-9A>C) c.1753-9A>C (n.1753-9A>C) c.1750-9A>C (n.1750-9A>C) c.1744-9A>C (n.1744-9A>C) c.1735-9A>C (n.1735-9A>C) c.1732-9A>C (n.1732-9A>C) c.1618-9A>C (n.1618-9A>C) c.1525-9A>C (n.1525-9A>C) n.515+6644T>G n.722+6644T>G c.1813-9A>C (n.1813-9A>C) c.1510-9A>C (n.1510-9A>C) c.1738-9A>C (n.1738-9A>C) n.4226-9A>C n.4882-9A>C n.5342-9A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.148811729T= | CA1751424173 | EZH2 | n.3752-9A= c.*914-9A= (n.*914-9A=) c.*748-9A= (n.*748-9A=) n.3571-9A= n.2743-9A= n.2168-9A= n.2230-9A= c.1852-9A= (n.1852-9A=) c.1720-9A= (n.1720-9A=) c.1837-9A= (n.1837-9A=) n.95A= c.1684-9A= (n.1684-9A=) c.1810-9A= (n.1810-9A=) c.*1842-9A= (n.*1842-9A=) c.1861-9A= (n.1861-9A=) c.1834-9A= (n.1834-9A=) c.1708-9A= (n.1708-9A=) c.1876-9A= (n.1876-9A=) c.1849-9A= (n.1849-9A=) c.1828-9A= (n.1828-9A=) c.1825-9A= (n.1825-9A=) c.1786-9A= (n.1786-9A=) c.1759-9A= (n.1759-9A=) c.1753-9A= (n.1753-9A=) c.1750-9A= (n.1750-9A=) c.1744-9A= (n.1744-9A=) c.1735-9A= (n.1735-9A=) c.1732-9A= (n.1732-9A=) c.1618-9A= (n.1618-9A=) c.1525-9A= (n.1525-9A=) n.515+6644T= n.722+6644T= c.1813-9A= (n.1813-9A=) c.1510-9A= (n.1510-9A=) c.1738-9A= (n.1738-9A=) n.4226-9A= n.4882-9A= n.5342-9A= | |
7 | g.148811733del | CA2579086422 | EZH2 | n.3752-10del c.*914-10del (n.*914-10del) c.*748-10del (n.*748-10del) n.3571-10del n.2743-10del n.2168-10del n.2230-10del c.1852-10del (n.1852-10del) c.1720-10del (n.1720-10del) c.1837-10del (n.1837-10del) n.94del c.1684-10del (n.1684-10del) c.1810-10del (n.1810-10del) c.*1842-10del (n.*1842-10del) c.1861-10del (n.1861-10del) c.1834-10del (n.1834-10del) c.1708-10del (n.1708-10del) c.1876-10del (n.1876-10del) c.1849-10del (n.1849-10del) c.1828-10del (n.1828-10del) c.1825-10del (n.1825-10del) c.1786-10del (n.1786-10del) c.1759-10del (n.1759-10del) c.1753-10del (n.1753-10del) c.1750-10del (n.1750-10del) c.1744-10del (n.1744-10del) c.1735-10del (n.1735-10del) c.1732-10del (n.1732-10del) c.1618-10del (n.1618-10del) c.1525-10del (n.1525-10del) n.515+6648del n.722+6648del c.1813-10del (n.1813-10del) c.1510-10del (n.1510-10del) c.1738-10del (n.1738-10del) n.4226-10del n.4882-10del n.5342-10del | gnomAD v4 |
7 | g.148811731A>G | CA2685465196 | EZH2 | n.3752-11T>C c.*914-11T>C (n.*914-11T>C) c.*748-11T>C (n.*748-11T>C) n.3571-11T>C n.2743-11T>C n.2168-11T>C n.2230-11T>C c.1852-11T>C (n.1852-11T>C) c.1720-11T>C (n.1720-11T>C) c.1837-11T>C (n.1837-11T>C) n.93T>C c.1684-11T>C (n.1684-11T>C) c.1810-11T>C (n.1810-11T>C) c.*1842-11T>C (n.*1842-11T>C) c.1861-11T>C (n.1861-11T>C) c.1834-11T>C (n.1834-11T>C) c.1708-11T>C (n.1708-11T>C) c.1876-11T>C (n.1876-11T>C) c.1849-11T>C (n.1849-11T>C) c.1828-11T>C (n.1828-11T>C) c.1825-11T>C (n.1825-11T>C) c.1786-11T>C (n.1786-11T>C) c.1759-11T>C (n.1759-11T>C) c.1753-11T>C (n.1753-11T>C) c.1750-11T>C (n.1750-11T>C) c.1744-11T>C (n.1744-11T>C) c.1735-11T>C (n.1735-11T>C) c.1732-11T>C (n.1732-11T>C) c.1618-11T>C (n.1618-11T>C) c.1525-11T>C (n.1525-11T>C) n.515+6646A>G n.722+6646A>G c.1813-11T>C (n.1813-11T>C) c.1510-11T>C (n.1510-11T>C) c.1738-11T>C (n.1738-11T>C) n.4226-11T>C n.4882-11T>C n.5342-11T>C | gnomAD v4 |
7 | g.148811732_148811734delinsAAC | CA1751424174 | EZH2 | n.3752-14_3752-12delinsGTT c.*914-14_*914-12delinsGTT (n.*914-14_*914-12delinsGTT) c.*748-14_*748-12delinsGTT (n.*748-14_*748-12delinsGTT) n.3571-14_3571-12delinsGTT n.2743-14_2743-12delinsGTT n.2168-14_2168-12delinsGTT n.2230-14_2230-12delinsGTT c.1852-14_1852-12delinsGTT (n.1852-14_1852-12delinsGTT) c.1720-14_1720-12delinsGTT (n.1720-14_1720-12delinsGTT) c.1837-14_1837-12delinsGTT (n.1837-14_1837-12delinsGTT) n.90_92delinsGTT c.1684-14_1684-12delinsGTT (n.1684-14_1684-12delinsGTT) c.1810-14_1810-12delinsGTT (n.1810-14_1810-12delinsGTT) c.*1842-14_*1842-12delinsGTT (n.*1842-14_*1842-12delinsGTT) c.1861-14_1861-12delinsGTT (n.1861-14_1861-12delinsGTT) c.1834-14_1834-12delinsGTT (n.1834-14_1834-12delinsGTT) c.1708-14_1708-12delinsGTT (n.1708-14_1708-12delinsGTT) c.1876-14_1876-12delinsGTT (n.1876-14_1876-12delinsGTT) c.1849-14_1849-12delinsGTT (n.1849-14_1849-12delinsGTT) c.1828-14_1828-12delinsGTT (n.1828-14_1828-12delinsGTT) c.1825-14_1825-12delinsGTT (n.1825-14_1825-12delinsGTT) c.1786-14_1786-12delinsGTT (n.1786-14_1786-12delinsGTT) c.1759-14_1759-12delinsGTT (n.1759-14_1759-12delinsGTT) c.1753-14_1753-12delinsGTT (n.1753-14_1753-12delinsGTT) c.1750-14_1750-12delinsGTT (n.1750-14_1750-12delinsGTT) c.1744-14_1744-12delinsGTT (n.1744-14_1744-12delinsGTT) c.1735-14_1735-12delinsGTT (n.1735-14_1735-12delinsGTT) c.1732-14_1732-12delinsGTT (n.1732-14_1732-12delinsGTT) c.1618-14_1618-12delinsGTT (n.1618-14_1618-12delinsGTT) c.1525-14_1525-12delinsGTT (n.1525-14_1525-12delinsGTT) n.515+6647_515+6649delinsAAC n.722+6647_722+6649delinsAAC c.1813-14_1813-12delinsGTT (n.1813-14_1813-12delinsGTT) c.1510-14_1510-12delinsGTT (n.1510-14_1510-12delinsGTT) c.1738-14_1738-12delinsGTT (n.1738-14_1738-12delinsGTT) n.4226-14_4226-12delinsGTT n.4882-14_4882-12delinsGTT n.5342-14_5342-12delinsGTT | |
7 | g.148811736_148811737del | CA168910246 | EZH2 | n.3752-14_3752-13del c.*914-14_*914-13del (n.*914-14_*914-13del) c.*748-14_*748-13del (n.*748-14_*748-13del) n.3571-14_3571-13del n.2743-14_2743-13del n.2168-14_2168-13del n.2230-14_2230-13del c.1852-14_1852-13del (n.1852-14_1852-13del) c.1720-14_1720-13del (n.1720-14_1720-13del) c.1837-14_1837-13del (n.1837-14_1837-13del) n.90_91del c.1684-14_1684-13del (n.1684-14_1684-13del) c.1810-14_1810-13del (n.1810-14_1810-13del) c.*1842-14_*1842-13del (n.*1842-14_*1842-13del) c.1861-14_1861-13del (n.1861-14_1861-13del) c.1834-14_1834-13del (n.1834-14_1834-13del) c.1708-14_1708-13del (n.1708-14_1708-13del) c.1876-14_1876-13del (n.1876-14_1876-13del) c.1849-14_1849-13del (n.1849-14_1849-13del) c.1828-14_1828-13del (n.1828-14_1828-13del) c.1825-14_1825-13del (n.1825-14_1825-13del) c.1786-14_1786-13del (n.1786-14_1786-13del) c.1759-14_1759-13del (n.1759-14_1759-13del) c.1753-14_1753-13del (n.1753-14_1753-13del) c.1750-14_1750-13del (n.1750-14_1750-13del) c.1744-14_1744-13del (n.1744-14_1744-13del) c.1735-14_1735-13del (n.1735-14_1735-13del) c.1732-14_1732-13del (n.1732-14_1732-13del) c.1618-14_1618-13del (n.1618-14_1618-13del) c.1525-14_1525-13del (n.1525-14_1525-13del) n.515+6651_515+6652del n.722+6651_722+6652del c.1813-14_1813-13del (n.1813-14_1813-13del) c.1510-14_1510-13del (n.1510-14_1510-13del) c.1738-14_1738-13del (n.1738-14_1738-13del) n.4226-14_4226-13del n.4882-14_4882-13del n.5342-14_5342-13del | dbSNP gnomAD v4 |
7 | g.148811734C>A | CA2716263243 | EZH2 | n.3752-14G>T c.*914-14G>T (n.*914-14G>T) c.*748-14G>T (n.*748-14G>T) n.3571-14G>T n.2743-14G>T n.2168-14G>T n.2230-14G>T c.1852-14G>T (n.1852-14G>T) c.1720-14G>T (n.1720-14G>T) c.1837-14G>T (n.1837-14G>T) n.90G>T c.1684-14G>T (n.1684-14G>T) c.1810-14G>T (n.1810-14G>T) c.*1842-14G>T (n.*1842-14G>T) c.1861-14G>T (n.1861-14G>T) c.1834-14G>T (n.1834-14G>T) c.1708-14G>T (n.1708-14G>T) c.1876-14G>T (n.1876-14G>T) c.1849-14G>T (n.1849-14G>T) c.1828-14G>T (n.1828-14G>T) c.1825-14G>T (n.1825-14G>T) c.1786-14G>T (n.1786-14G>T) c.1759-14G>T (n.1759-14G>T) c.1753-14G>T (n.1753-14G>T) c.1750-14G>T (n.1750-14G>T) c.1744-14G>T (n.1744-14G>T) c.1735-14G>T (n.1735-14G>T) c.1732-14G>T (n.1732-14G>T) c.1618-14G>T (n.1618-14G>T) c.1525-14G>T (n.1525-14G>T) n.515+6649C>A n.722+6649C>A c.1813-14G>T (n.1813-14G>T) c.1510-14G>T (n.1510-14G>T) c.1738-14G>T (n.1738-14G>T) n.4226-14G>T n.4882-14G>T n.5342-14G>T | dbSNP |
7 | g.148811734C>G | CA2716263239 | EZH2 | n.3752-14G>C c.*914-14G>C (n.*914-14G>C) c.*748-14G>C (n.*748-14G>C) n.3571-14G>C n.2743-14G>C n.2168-14G>C n.2230-14G>C c.1852-14G>C (n.1852-14G>C) c.1720-14G>C (n.1720-14G>C) c.1837-14G>C (n.1837-14G>C) n.90G>C c.1684-14G>C (n.1684-14G>C) c.1810-14G>C (n.1810-14G>C) c.*1842-14G>C (n.*1842-14G>C) c.1861-14G>C (n.1861-14G>C) c.1834-14G>C (n.1834-14G>C) c.1708-14G>C (n.1708-14G>C) c.1876-14G>C (n.1876-14G>C) c.1849-14G>C (n.1849-14G>C) c.1828-14G>C (n.1828-14G>C) c.1825-14G>C (n.1825-14G>C) c.1786-14G>C (n.1786-14G>C) c.1759-14G>C (n.1759-14G>C) c.1753-14G>C (n.1753-14G>C) c.1750-14G>C (n.1750-14G>C) c.1744-14G>C (n.1744-14G>C) c.1735-14G>C (n.1735-14G>C) c.1732-14G>C (n.1732-14G>C) c.1618-14G>C (n.1618-14G>C) c.1525-14G>C (n.1525-14G>C) n.515+6649C>G n.722+6649C>G c.1813-14G>C (n.1813-14G>C) c.1510-14G>C (n.1510-14G>C) c.1738-14G>C (n.1738-14G>C) n.4226-14G>C n.4882-14G>C n.5342-14G>C | dbSNP |
7 | g.148811736C>A | CA2685465197 | EZH2 | n.3752-16G>T c.*914-16G>T (n.*914-16G>T) c.*748-16G>T (n.*748-16G>T) n.3571-16G>T n.2743-16G>T n.2168-16G>T n.2230-16G>T c.1852-16G>T (n.1852-16G>T) c.1720-16G>T (n.1720-16G>T) c.1837-16G>T (n.1837-16G>T) n.88G>T c.1684-16G>T (n.1684-16G>T) c.1810-16G>T (n.1810-16G>T) c.*1842-16G>T (n.*1842-16G>T) c.1861-16G>T (n.1861-16G>T) c.1834-16G>T (n.1834-16G>T) c.1708-16G>T (n.1708-16G>T) c.1876-16G>T (n.1876-16G>T) c.1849-16G>T (n.1849-16G>T) c.1828-16G>T (n.1828-16G>T) c.1825-16G>T (n.1825-16G>T) c.1786-16G>T (n.1786-16G>T) c.1759-16G>T (n.1759-16G>T) c.1753-16G>T (n.1753-16G>T) c.1750-16G>T (n.1750-16G>T) c.1744-16G>T (n.1744-16G>T) c.1735-16G>T (n.1735-16G>T) c.1732-16G>T (n.1732-16G>T) c.1618-16G>T (n.1618-16G>T) c.1525-16G>T (n.1525-16G>T) n.515+6651C>A n.722+6651C>A c.1813-16G>T (n.1813-16G>T) c.1510-16G>T (n.1510-16G>T) c.1738-16G>T (n.1738-16G>T) n.4226-16G>T n.4882-16G>T n.5342-16G>T | dbSNP gnomAD v4 |
7 | g.148811736C>G | CA2685465198 | EZH2 | n.3752-16G>C c.*914-16G>C (n.*914-16G>C) c.*748-16G>C (n.*748-16G>C) n.3571-16G>C n.2743-16G>C n.2168-16G>C n.2230-16G>C c.1852-16G>C (n.1852-16G>C) c.1720-16G>C (n.1720-16G>C) c.1837-16G>C (n.1837-16G>C) n.88G>C c.1684-16G>C (n.1684-16G>C) c.1810-16G>C (n.1810-16G>C) c.*1842-16G>C (n.*1842-16G>C) c.1861-16G>C (n.1861-16G>C) c.1834-16G>C (n.1834-16G>C) c.1708-16G>C (n.1708-16G>C) c.1876-16G>C (n.1876-16G>C) c.1849-16G>C (n.1849-16G>C) c.1828-16G>C (n.1828-16G>C) c.1825-16G>C (n.1825-16G>C) c.1786-16G>C (n.1786-16G>C) c.1759-16G>C (n.1759-16G>C) c.1753-16G>C (n.1753-16G>C) c.1750-16G>C (n.1750-16G>C) c.1744-16G>C (n.1744-16G>C) c.1735-16G>C (n.1735-16G>C) c.1732-16G>C (n.1732-16G>C) c.1618-16G>C (n.1618-16G>C) c.1525-16G>C (n.1525-16G>C) n.515+6651C>G n.722+6651C>G c.1813-16G>C (n.1813-16G>C) c.1510-16G>C (n.1510-16G>C) c.1738-16G>C (n.1738-16G>C) n.4226-16G>C n.4882-16G>C n.5342-16G>C | gnomAD v4 |
7 | g.148811736C>T | CA2685465199 | EZH2 | n.3752-16G>A c.*914-16G>A (n.*914-16G>A) c.*748-16G>A (n.*748-16G>A) n.3571-16G>A n.2743-16G>A n.2168-16G>A n.2230-16G>A c.1852-16G>A (n.1852-16G>A) c.1720-16G>A (n.1720-16G>A) c.1837-16G>A (n.1837-16G>A) n.88G>A c.1684-16G>A (n.1684-16G>A) c.1810-16G>A (n.1810-16G>A) c.*1842-16G>A (n.*1842-16G>A) c.1861-16G>A (n.1861-16G>A) c.1834-16G>A (n.1834-16G>A) c.1708-16G>A (n.1708-16G>A) c.1876-16G>A (n.1876-16G>A) c.1849-16G>A (n.1849-16G>A) c.1828-16G>A (n.1828-16G>A) c.1825-16G>A (n.1825-16G>A) c.1786-16G>A (n.1786-16G>A) c.1759-16G>A (n.1759-16G>A) c.1753-16G>A (n.1753-16G>A) c.1750-16G>A (n.1750-16G>A) c.1744-16G>A (n.1744-16G>A) c.1735-16G>A (n.1735-16G>A) c.1732-16G>A (n.1732-16G>A) c.1618-16G>A (n.1618-16G>A) c.1525-16G>A (n.1525-16G>A) n.515+6651C>T n.722+6651C>T c.1813-16G>A (n.1813-16G>A) c.1510-16G>A (n.1510-16G>A) c.1738-16G>A (n.1738-16G>A) n.4226-16G>A n.4882-16G>A n.5342-16G>A | gnomAD v4 |