Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.148811636A=CA1751424144EZH2n.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=
7g.148811636A>CCA369713036EZH2n.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
7g.148811636A>GCA16602260EZH2n.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
7g.148811636A>TCA16602670EZH2n.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
7g.148811637T>ACA369713037EZH2n.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
7g.148811637T>CCA458345808EZH2n.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
7g.148811637T>GCA369713038EZH2n.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
7g.148811638T>ACA369713039EZH2n.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
7g.148811638T>CCA369713040EZH2n.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
7g.148811638T>GCA369713041EZH2n.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
7g.148811639C>ACA369713042EZH2n.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
7g.148811639C>GCA369713043EZH2n.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
7g.148811639C>TCA369713044EZH2n.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
7g.148811640T>ACA458345809EZH2n.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
7g.148811640T>CCA458345810EZH2n.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
7g.148811640T>GCA458345811EZH2n.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
7g.148811641G>ACA369713045EZH2n.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
7g.148811641G>CCA369713046EZH2n.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
7g.148811641G>TCA369713047EZH2n.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
7g.148811642A>CCA369713049EZH2n.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
7g.148811642A>GCA369713050EZH2n.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
7g.148811642A>TCA369713048EZH2n.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
7g.148811643G>ACA458345812EZH2n.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
7g.148811643G>CCA369713051EZH2n.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
7g.148811643G>TCA458345813EZH2n.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
7g.148811644A>CCA369713052EZH2n.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
7g.148811644A>GCA369713053EZH2n.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
7g.148811644A>TCA369713054EZH2n.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
7g.148811645T>ACA369713055EZH2n.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
7g.148811645T>CCA369713056EZH2n.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
7g.148811645T>GCA369713057EZH2n.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
7g.148811646G>ACA458345814EZH2n.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
7g.148811646G>CCA369713058EZH2n.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
7g.148811646G>TCA369713059EZH2n.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
7g.148811647A>CCA369713060EZH2n.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
7g.148811647A>GCA369713061EZH2n.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
7g.148811647A>TCA369713062EZH2n.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
7g.148811648A=CA1751424145EZH2n.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=
7g.148811648A>CCA369713065EZH2n.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
7g.148811648A>GCA369713064EZH2n.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
7g.148811648A>TCA369713063EZH2n.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
7g.148811649T>ACA369713066EZH2n.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
7g.148811649T>CCA458345815EZH2n.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
7g.148811649T>GCA369713067EZH2n.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
7g.148811651_148811671dupCA1751424146EZH2n.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
7g.148811650T>ACA16602849EZH2n.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
7g.148811650T>CCA369713068EZH2n.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
7g.148811650T>GCA16602850EZH2n.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
7g.148811650T=CA1751424147EZH2n.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=
7g.148811651delCA2685465191EZH2n.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
7g.148811651C>ACA369713069EZH2n.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
7g.148811651C=CA1751424148EZH2n.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=
7g.148811651C>GCA4547762EZH2n.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
7g.148811651C>TCA369713070EZH2n.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
7g.148811652A>CCA369713071EZH2n.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
7g.148811652A>GCA458345816EZH2n.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
7g.148811652A>TCA369713072EZH2n.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
7g.148811653T>ACA369713073EZH2n.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
7g.148811653T>CCA369713074EZH2n.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
7g.148811653T>GCA369713075EZH2n.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
7g.148811657dupCA2716261356EZH2n.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
7g.148811657delCA645563947EZH2n.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
7g.148811654T>ACA369713077EZH2n.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
7g.148811654T>CCA369713078EZH2n.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
7g.148811654T>GCA369713076EZH2n.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
7g.148811655T>ACA369713080EZH2n.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
7g.148811655T>CCA458345817EZH2n.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
7g.148811655T>GCA369713079EZH2n.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
7g.148811655T=CA1751424149EZH2n.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=
7g.148811656T>ACA369713082EZH2n.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
7g.148811656T>CCA369713081EZH2n.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
7g.148811656T>GCA369713083EZH2n.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
7g.148811657T>ACA369713084EZH2n.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
7g.148811657T>CCA369713086EZH2n.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
7g.148811657T>GCA369713085EZH2n.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
7g.148811658C>ACA369713087EZH2n.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
7g.148811658C>GCA369713088EZH2n.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
7g.148811658C>TCA458345818EZH2n.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
7g.148811659T>ACA369713089EZH2n.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
7g.148811659T>CCA369713090EZH2n.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
7g.148811659T>GCA369713091EZH2n.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
7g.148811660G>ACA369713092EZH2n.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
7g.148811660G>CCA369713093EZH2n.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
7g.148811660G>TCA369713094EZH2n.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
7g.148811661C>ACA458345819EZH2n.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
7g.148811661C=CA1751424150EZH2n.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=
7g.148811661C>GCA458345821EZH2n.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
7g.148811661C>TCA458345820EZH2n.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
7g.148811662A>CCA369713095EZH2n.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
7g.148811662A>GCA369713096EZH2n.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
7g.148811662A>TCA369713097EZH2n.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
7g.148811663C>ACA369713100EZH2n.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
7g.148811663C>GCA369713098EZH2n.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
7g.148811663C>TCA369713099EZH2n.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
7g.148811664A=CA1751424151EZH2n.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=
7g.148811664A>CCA458345822EZH2n.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
7g.148811664A>GCA4547763EZH2n.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
7g.148811664A>TCA458345823EZH2n.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
7g.148811665G>ACA369713101EZH2n.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
7g.148811665G>CCA369713102EZH2n.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
7g.148811665G>TCA369713103EZH2n.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
7g.148811666G>ACA369713104EZH2n.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
7g.148811666G>CCA369713105EZH2n.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
7g.148811666G>TCA369713106EZH2n.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
7g.148811667A=CA1751424152EZH2n.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=
7g.148811667A>CCA369713107EZH2n.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
7g.148811667A>GCA4547764EZH2n.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
7g.148811667A>TCA369713108EZH2n.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
7g.148811668T>ACA369713111EZH2n.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
7g.148811668T>CCA369713110EZH2n.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
7g.148811668T>GCA369713109EZH2n.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
7g.148811669C>ACA369713112EZH2n.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
7g.148811669C>GCA369713113EZH2n.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
7g.148811669C>TCA369713114EZH2n.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
7g.148811670T>ACA369713115EZH2n.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
7g.148811670T>CCA458345824EZH2n.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
7g.148811670T>GCA369713116EZH2n.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
7g.148811671T>ACA369713117EZH2n.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
7g.148811671T>CCA369713118EZH2n.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
7g.148811671T>GCA369713119EZH2n.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
7g.148811671T=CA1751424153EZH2n.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=
7g.148811672T>ACA369713120EZH2n.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
7g.148811672T>CCA369713121EZH2n.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
7g.148811672T>GCA369713122EZH2n.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
7g.148811673G>ACA458345825EZH2n.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
7g.148811673G>CCA4547765EZH2n.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
7g.148811673G=CA1751424154EZH2n.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=
7g.148811673G>TCA458345826EZH2n.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
7g.148811674A>CCA369713125EZH2n.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
7g.148811674A>GCA369713123EZH2n.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
7g.148811674A>TCA369713124EZH2n.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
7g.148811675T>ACA4547766EZH2n.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
7g.148811675T>CCA369713126EZH2n.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
7g.148811675T>GCA369713127EZH2n.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
7g.148811675T=CA1751424155EZH2n.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=
7g.148811676A=CA1751424156EZH2n.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=
7g.148811676A>CCA369713128EZH2n.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
7g.148811676A>GCA458345827EZH2n.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
7g.148811676A>TCA369713129EZH2n.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
7g.148811677A>CCA369713130EZH2n.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
7g.148811677A>GCA369713131EZH2n.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
7g.148811677A>TCA369713132EZH2n.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
7g.148811678A>CCA369713133EZH2n.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
7g.148811678A>GCA369713134EZH2n.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
7g.148811678A>TCA369713135EZH2n.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
7g.148811679A>CCA369713136EZH2n.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
7g.148811679A>GCA458345830EZH2n.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
7g.148811679A>TCA458345829EZH2n.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
7g.148811680A>CCA369713138EZH2n.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
7g.148811680A>GCA369713139EZH2n.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
7g.148811680A>TCA369713137EZH2n.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
7g.148811681delCA2580617727EZH2n.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
7g.148811681T>ACA369713141EZH2n.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
7g.148811681T>CCA4547767EZH2n.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
7g.148811681T>GCA369713140EZH2n.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
7g.148811681T=CA1751424157EZH2n.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=
7g.148811682C>ACA458345835EZH2n.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
7g.148811682C=CA1751424158EZH2n.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=
7g.148811682C>GCA458345834EZH2n.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
7g.148811682C>TCA4547768EZH2n.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
7g.148811686delCA2685465192EZH2n.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
7g.148811683C>ACA369713142EZH2n.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
7g.148811683C>GCA369713143EZH2n.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
7g.148811683C>TCA369713144EZH2n.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
7g.148811684C>ACA369713145EZH2n.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
7g.148811684C>GCA369713146EZH2n.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
7g.148811684C>TCA369713147EZH2n.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
7g.148811685C>ACA369713148EZH2n.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
7g.148811685C>GCA369713149EZH2n.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
7g.148811685C>TCA369713150EZH2n.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
7g.148811686C>ACA369713153EZH2n.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
7g.148811686C>GCA369713151EZH2n.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
7g.148811686C>TCA369713152EZH2n.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
7g.148811687A>CCA369713154EZH2n.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
7g.148811687A>GCA369713155EZH2n.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
7g.148811687A>TCA369713156EZH2n.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
7g.148811688G>ACA4547769EZH2n.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
7g.148811688G>CCA271509EZH2n.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
7g.148811688G=CA1751424159EZH2n.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=
7g.148811688G>TCA458345837EZH2n.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
7g.148811689C>ACA369713157EZH2n.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
7g.148811689C=CA1751424160EZH2n.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=
7g.148811689C>GCA369713158EZH2n.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
7g.148811689C>TCA369713159EZH2n.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
7g.148811690C>ACA369713160EZH2n.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
7g.148811690C>GCA369713161EZH2n.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
7g.148811690C>TCA369713162EZH2n.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
7g.148811691T>ACA458345839EZH2n.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
7g.148811691T>CCA458345840EZH2n.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
7g.148811691T>GCA458345841EZH2n.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
7g.148811692G>ACA369713164EZH2n.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
7g.148811692G>CCA369713165EZH2n.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
7g.148811692G>TCA369713163EZH2n.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
7g.148811693C>ACA369713166EZH2n.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
7g.148811693C>GCA369713167EZH2n.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
7g.148811693C>TCA369713168EZH2n.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
7g.148811694C>ACA458345843EZH2n.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
7g.148811694C=CA1751424161EZH2n.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=
7g.148811694C>GCA458345844EZH2n.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
7g.148811694C>TCA458345845EZH2n.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
7g.148811695A>CCA369713169EZH2n.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
7g.148811695A>GCA369713170EZH2n.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
7g.148811695A>TCA369713171EZH2n.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
7g.148811696C>ACA369713172EZH2n.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
7g.148811696C=CA1751424162EZH2n.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=
7g.148811696C>GCA369713173EZH2n.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
7g.148811696C>TCA271506EZH2n.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
7g.148811697G>ACA4547770EZH2n.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
7g.148811697G>CCA369713174EZH2n.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
7g.148811697G=CA1751424163EZH2n.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=
7g.148811697G>TCA369713175EZH2n.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
7g.148811698T>ACA369713177EZH2n.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
7g.148811698T>CCA369713178EZH2n.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
7g.148811698T>GCA369713176EZH2n.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
7g.148811699C>ACA369713179EZH2n.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
7g.148811699C>GCA369713180EZH2n.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
7g.148811699C>TCA369713181EZH2n.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
7g.148811700A=CA1751424164EZH2n.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=
7g.148811700A>CCA458345850EZH2n.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
7g.148811700A>GCA458345852EZH2n.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
7g.148811700A>TCA458345854EZH2n.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
7g.148811701G>ACA369713182EZH2n.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
7g.148811701G>CCA369713183EZH2n.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
7g.148811701G>TCA369713184EZH2n.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
7g.148811702A>CCA369713187EZH2n.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
7g.148811702A>GCA369713185EZH2n.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
7g.148811702A>TCA369713186EZH2n.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
7g.148811703T>ACA458345856EZH2n.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
7g.148811703T>CCA458345857EZH2n.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
7g.148811703T>GCA458345858EZH2n.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
7g.148811704G>ACA369713188EZH2n.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
7g.148811704G>CCA369713189EZH2n.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
7g.148811704G>TCA369713190EZH2n.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
7g.148811705G>ACA369713191EZH2n.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
7g.148811705G>CCA369713192EZH2n.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
7g.148811705G>TCA369713193EZH2n.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
7g.148811706T>ACA458345861EZH2n.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
7g.148811706T>CCA458345862EZH2n.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
7g.148811706T>GCA458345863EZH2n.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
7g.148811707G>ACA369713195EZH2n.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
7g.148811707G>CCA369713196EZH2n.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
7g.148811707G>TCA369713194EZH2n.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
7g.148811708C>ACA369713199EZH2n.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
7g.148811708C>GCA369713197EZH2n.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
7g.148811708C>TCA369713198EZH2n.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
7g.148811709C>ACA458345864EZH2n.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
7g.148811709C>GCA458345865EZH2n.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
7g.148811709C>TCA458345867EZH2n.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
7g.148811710A>CCA369713200EZH2n.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
7g.148811710A>GCA369713201EZH2n.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
7g.148811710A>TCA369713202EZH2n.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
7g.148811711G>ACA458345868EZH2n.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
7g.148811711G>CCA369713203EZH2n.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
7g.148811711G>TCA369713204EZH2n.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
7g.148811712C>ACA369713205EZH2n.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
7g.148811712C=CA1751424165EZH2n.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=
7g.148811712C>GCA369713206EZH2n.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
7g.148811712C>TCA458345870EZH2n.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
7g.148811713A>CCA369713207EZH2n.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
7g.148811713A>GCA369713208EZH2n.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
7g.148811713A>TCA369713209EZH2n.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
7g.148811714A>CCA369713210EZH2n.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
7g.148811714A>GCA458345873EZH2n.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
7g.148811714A>TCA369713211EZH2n.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
7g.148811715T>ACA458345874EZH2n.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
7g.148811715T>CCA168910213EZH2n.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
7g.148811715T>GCA458345875EZH2n.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
7g.148811715T=CA1751424166EZH2n.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=
7g.148811716A>CCA369713214EZH2n.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
7g.148811716A>GCA369713212EZH2n.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
7g.148811716A>TCA369713213EZH2n.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
7g.148811717G>ACA458345879EZH2n.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
7g.148811717G>CCA369713215EZH2n.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
7g.148811717G>TCA369713216EZH2n.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
7g.148811718A>CCA369713217EZH2n.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
7g.148811718A>GCA458345880EZH2n.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
7g.148811718A>TCA369713218EZH2n.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
7g.148811719T>ACA369713219EZH2n.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
7g.148811719T>CCA369713220EZH2n.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
7g.148811719T>GCA369713221EZH2n.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
7g.148811720G>ACA369713222EZH2n.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
7g.148811720G>CCA369713223EZH2n.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
7g.148811720G>TCA369713224EZH2n.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
7g.148811721C>ACA369713225EZH2n.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
7g.148811721C>GCA369713226EZH2n.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
7g.148811721C>TCA369713227EZH2n.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
7g.148811722T>ACA369713228EZH2n.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
7g.148811722T>CCA369713230EZH2n.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
7g.148811722T>GCA369713229EZH2n.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
7g.148811723A=CA1751424167EZH2n.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=
7g.148811723A>GCA1751424168EZH2n.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
7g.148811724G>ACA2716263234EZH2n.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
7g.148811724G>CCA2579086421EZH2n.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
7g.148811724G>TCA2685465193EZH2n.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
7g.148811725A=CA1751424169EZH2n.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=
7g.148811725A>CCA1139532483EZH2n.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
7g.148811725A>GCA4547771EZH2n.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
7g.148811726G>ACA172167EZH2n.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
7g.148811726G>CCA2685465194EZH2n.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
7g.148811726G=CA1751424170EZH2n.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=
7g.148811726G>TCA2685465195EZH2n.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
7g.148811727A=CA1751424171EZH2n.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=
7g.148811727A>GCA578647565EZH2n.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
7g.148811728A=CA1751424172EZH2n.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=
7g.148811728A>CCA915940459EZH2n.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
7g.148811728A>GCA578647566EZH2n.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
7g.148811729T>ACA578647569EZH2n.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
7g.148811729T>CCA4547772EZH2n.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
7g.148811729T>GCA4547773EZH2n.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
7g.148811729T=CA1751424173EZH2n.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=
7g.148811733delCA2579086422EZH2n.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
7g.148811731A>GCA2685465196EZH2n.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
7g.148811732_148811734delinsAACCA1751424174EZH2n.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
7g.148811736_148811737delCA168910246EZH2n.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
7g.148811734C>ACA2716263243EZH2n.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
7g.148811734C>GCA2716263239EZH2n.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
7g.148811736C>ACA2685465197EZH2n.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
7g.148811736C>GCA2685465198EZH2n.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
7g.148811736C>TCA2685465199EZH2n.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

Number of alleles fetched