UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.148810366_148810371del | CA645563943 | EZH2 | n.3892_3897del c.*1054_*1059del (n.*1054_*1059del) c.*888_*893del (n.*888_*893del) n.3711_3716del n.2883_2888del n.2308_2313del n.2370_2375del c.1992_1997del (p.Lys665_Tyr666del) c.1860_1865del (p.Lys621_Tyr622del) c.1977_1982del (p.Lys660_Tyr661del) n.244_249del c.1824_1829del (p.Lys609_Tyr610del) c.1950_1955del (p.Lys651_Tyr652del) c.*1982_*1987del (n.*1982_*1987del) c.2001_2006del (p.Lys668_Tyr669del) c.1974_1979del (p.Lys659_Tyr660del) c.1848_1853del (p.Lys617_Tyr618del) c.2016_2021del (p.Lys673_Tyr674del) c.1989_1994del (p.Lys664_Tyr665del) c.1968_1973del (p.Lys657_Tyr658del) c.1965_1970del (p.Lys656_Tyr657del) c.1926_1931del (p.Lys643_Tyr644del) c.1899_1904del (p.Lys634_Tyr635del) c.1893_1898del (p.Lys632_Tyr633del) c.1890_1895del (p.Lys631_Tyr632del) c.1884_1889del (p.Lys629_Tyr630del) c.1875_1880del (p.Lys626_Tyr627del) c.1872_1877del (p.Lys625_Tyr626del) c.1758_1763del (p.Lys587_Tyr588del) c.1665_1670del (p.Lys556_Tyr557del) n.515+5281_515+5286del n.722+5281_722+5286del c.1953_1958del (p.Lys652_Tyr653del) c.1650_1655del (p.Lys551_Tyr552del) c.1878_1883del (p.Lys627_Tyr628del) n.4366_4371del n.5022_5027del n.5482_5487del | COSMIC |
| 7 | g.148810367T>A | CA369712614 | EZH2 | n.3895A>T c.*1057A>T (n.*1057A>T) c.*891A>T (n.*891A>T) n.3714A>T n.2886A>T n.2311A>T n.2373A>T c.1995A>T (p.Lys665Asn) c.1863A>T (p.Lys621Asn) c.1980A>T (p.Lys660Asn) n.247A>T c.1827A>T (p.Lys609Asn) c.1953A>T (p.Lys651Asn) c.*1985A>T (n.*1985A>T) c.2004A>T (p.Lys668Asn) c.1977A>T (p.Lys659Asn) c.1851A>T (p.Lys617Asn) c.2019A>T (p.Lys673Asn) c.1992A>T (p.Lys664Asn) c.1971A>T (p.Lys657Asn) c.1968A>T (p.Lys656Asn) c.1929A>T (p.Lys643Asn) c.1902A>T (p.Lys634Asn) c.1896A>T (p.Lys632Asn) c.1893A>T (p.Lys631Asn) c.1887A>T (p.Lys629Asn) c.1878A>T (p.Lys626Asn) c.1875A>T (p.Lys625Asn) c.1761A>T (p.Lys587Asn) c.1668A>T (p.Lys556Asn) n.515+5282T>A n.722+5282T>A c.1956A>T (p.Lys652Asn) c.1653A>T (p.Lys551Asn) c.1881A>T (p.Lys627Asn) n.4369A>T n.5025A>T n.5485A>T | |
| 7 | g.148810367T>C | CA4547736 | EZH2 | n.3895A>G c.*1057A>G (n.*1057A>G) c.*891A>G (n.*891A>G) n.3714A>G n.2886A>G n.2311A>G n.2373A>G c.1995A>G (p.Lys665=) c.1863A>G (p.Lys621=) c.1980A>G (p.Lys660=) n.247A>G c.1827A>G (p.Lys609=) c.1953A>G (p.Lys651=) c.*1985A>G (n.*1985A>G) c.2004A>G (p.Lys668=) c.1977A>G (p.Lys659=) c.1851A>G (p.Lys617=) c.2019A>G (p.Lys673=) c.1992A>G (p.Lys664=) c.1971A>G (p.Lys657=) c.1968A>G (p.Lys656=) c.1929A>G (p.Lys643=) c.1902A>G (p.Lys634=) c.1896A>G (p.Lys632=) c.1893A>G (p.Lys631=) c.1887A>G (p.Lys629=) c.1878A>G (p.Lys626=) c.1875A>G (p.Lys625=) c.1761A>G (p.Lys587=) c.1668A>G (p.Lys556=) n.515+5282T>C n.722+5282T>C c.1956A>G (p.Lys652=) c.1653A>G (p.Lys551=) c.1881A>G (p.Lys627=) n.4369A>G n.5025A>G n.5485A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.148810367T>G | CA369712616 | EZH2 | n.3895A>C c.*1057A>C (n.*1057A>C) c.*891A>C (n.*891A>C) n.3714A>C n.2886A>C n.2311A>C n.2373A>C c.1995A>C (p.Lys665Asn) c.1863A>C (p.Lys621Asn) c.1980A>C (p.Lys660Asn) n.247A>C c.1827A>C (p.Lys609Asn) c.1953A>C (p.Lys651Asn) c.*1985A>C (n.*1985A>C) c.2004A>C (p.Lys668Asn) c.1977A>C (p.Lys659Asn) c.1851A>C (p.Lys617Asn) c.2019A>C (p.Lys673Asn) c.1992A>C (p.Lys664Asn) c.1971A>C (p.Lys657Asn) c.1968A>C (p.Lys656Asn) c.1929A>C (p.Lys643Asn) c.1902A>C (p.Lys634Asn) c.1896A>C (p.Lys632Asn) c.1893A>C (p.Lys631Asn) c.1887A>C (p.Lys629Asn) c.1878A>C (p.Lys626Asn) c.1875A>C (p.Lys625Asn) c.1761A>C (p.Lys587Asn) c.1668A>C (p.Lys556Asn) n.515+5282T>G n.722+5282T>G c.1956A>C (p.Lys652Asn) c.1653A>C (p.Lys551Asn) c.1881A>C (p.Lys627Asn) n.4369A>C n.5025A>C n.5485A>C | |
| 7 | g.148810367T= | CA1751422392 | EZH2 | n.3895A= c.*1057A= (n.*1057A=) c.*891A= (n.*891A=) n.3714A= n.2886A= n.2311A= n.2373A= c.1995A= (p.Lys665=) c.1863A= (p.Lys621=) c.1980A= (p.Lys660=) n.247A= c.1827A= (p.Lys609=) c.1953A= (p.Lys651=) c.*1985A= (n.*1985A=) c.2004A= (p.Lys668=) c.1977A= (p.Lys659=) c.1851A= (p.Lys617=) c.2019A= (p.Lys673=) c.1992A= (p.Lys664=) c.1971A= (p.Lys657=) c.1968A= (p.Lys656=) c.1929A= (p.Lys643=) c.1902A= (p.Lys634=) c.1896A= (p.Lys632=) c.1893A= (p.Lys631=) c.1887A= (p.Lys629=) c.1878A= (p.Lys626=) c.1875A= (p.Lys625=) c.1761A= (p.Lys587=) c.1668A= (p.Lys556=) n.515+5282T= n.722+5282T= c.1956A= (p.Lys652=) c.1653A= (p.Lys551=) c.1881A= (p.Lys627=) n.4369A= n.5025A= n.5485A= | |
| 7 | g.148810369dup | CA891842042 | EZH2 | n.3895dup c.*1057dup (n.*1057dup) c.*891dup (n.*891dup) n.3714dup n.2886dup n.2311dup n.2373dup c.1995dup (p.Tyr666IlefsTer12) c.1863dup (p.Tyr622IlefsTer12) c.1980dup (p.Tyr661IlefsTer12) n.247dup c.1827dup (p.Tyr610IlefsTer12) c.1953dup (p.Tyr652IlefsTer12) c.*1985dup (n.*1985dup) c.2004dup (p.Tyr669IlefsTer12) c.1977dup (p.Tyr660IlefsTer12) c.1851dup (p.Tyr618IlefsTer12) c.2019dup (p.Tyr674IlefsTer12) c.1992dup (p.Tyr665IlefsTer12) c.1971dup (p.Tyr658IlefsTer12) c.1968dup (p.Tyr657IlefsTer12) c.1929dup (p.Tyr644IlefsTer12) c.1902dup (p.Tyr635IlefsTer12) c.1896dup (p.Tyr633IlefsTer12) c.1893dup (p.Tyr632IlefsTer12) c.1887dup (p.Tyr630IlefsTer12) c.1878dup (p.Tyr627IlefsTer12) c.1875dup (p.Tyr626IlefsTer12) c.1761dup (p.Tyr588IlefsTer12) c.1668dup (p.Tyr557IlefsTer12) n.515+5284dup n.722+5284dup c.1956dup (p.Tyr653IlefsTer12) c.1653dup (p.Tyr552IlefsTer12) c.1881dup (p.Tyr628IlefsTer12) n.4369dup n.5025dup n.5485dup | |
| 7 | g.148810368T>A | CA369712618 | EZH2 | n.3894A>T c.*1056A>T (n.*1056A>T) c.*890A>T (n.*890A>T) n.3713A>T n.2885A>T n.2310A>T n.2372A>T c.1994A>T (p.Lys665Ile) c.1862A>T (p.Lys621Ile) c.1979A>T (p.Lys660Ile) n.246A>T c.1826A>T (p.Lys609Ile) c.1952A>T (p.Lys651Ile) c.*1984A>T (n.*1984A>T) c.2003A>T (p.Lys668Ile) c.1976A>T (p.Lys659Ile) c.1850A>T (p.Lys617Ile) c.2018A>T (p.Lys673Ile) c.1991A>T (p.Lys664Ile) c.1970A>T (p.Lys657Ile) c.1967A>T (p.Lys656Ile) c.1928A>T (p.Lys643Ile) c.1901A>T (p.Lys634Ile) c.1895A>T (p.Lys632Ile) c.1892A>T (p.Lys631Ile) c.1886A>T (p.Lys629Ile) c.1877A>T (p.Lys626Ile) c.1874A>T (p.Lys625Ile) c.1760A>T (p.Lys587Ile) c.1667A>T (p.Lys556Ile) n.515+5283T>A n.722+5283T>A c.1955A>T (p.Lys652Ile) c.1652A>T (p.Lys551Ile) c.1880A>T (p.Lys627Ile) n.4368A>T n.5024A>T n.5484A>T | |
| 7 | g.148810368T>C | CA369712619 | EZH2 | n.3894A>G c.*1056A>G (n.*1056A>G) c.*890A>G (n.*890A>G) n.3713A>G n.2885A>G n.2310A>G n.2372A>G c.1994A>G (p.Lys665Arg) c.1862A>G (p.Lys621Arg) c.1979A>G (p.Lys660Arg) n.246A>G c.1826A>G (p.Lys609Arg) c.1952A>G (p.Lys651Arg) c.*1984A>G (n.*1984A>G) c.2003A>G (p.Lys668Arg) c.1976A>G (p.Lys659Arg) c.1850A>G (p.Lys617Arg) c.2018A>G (p.Lys673Arg) c.1991A>G (p.Lys664Arg) c.1970A>G (p.Lys657Arg) c.1967A>G (p.Lys656Arg) c.1928A>G (p.Lys643Arg) c.1901A>G (p.Lys634Arg) c.1895A>G (p.Lys632Arg) c.1892A>G (p.Lys631Arg) c.1886A>G (p.Lys629Arg) c.1877A>G (p.Lys626Arg) c.1874A>G (p.Lys625Arg) c.1760A>G (p.Lys587Arg) c.1667A>G (p.Lys556Arg) n.515+5283T>C n.722+5283T>C c.1955A>G (p.Lys652Arg) c.1652A>G (p.Lys551Arg) c.1880A>G (p.Lys627Arg) n.4368A>G n.5024A>G n.5484A>G | gnomAD v4 |
| 7 | g.148810368T>G | CA369712621 | EZH2 | n.3894A>C c.*1056A>C (n.*1056A>C) c.*890A>C (n.*890A>C) n.3713A>C n.2885A>C n.2310A>C n.2372A>C c.1994A>C (p.Lys665Thr) c.1862A>C (p.Lys621Thr) c.1979A>C (p.Lys660Thr) n.246A>C c.1826A>C (p.Lys609Thr) c.1952A>C (p.Lys651Thr) c.*1984A>C (n.*1984A>C) c.2003A>C (p.Lys668Thr) c.1976A>C (p.Lys659Thr) c.1850A>C (p.Lys617Thr) c.2018A>C (p.Lys673Thr) c.1991A>C (p.Lys664Thr) c.1970A>C (p.Lys657Thr) c.1967A>C (p.Lys656Thr) c.1928A>C (p.Lys643Thr) c.1901A>C (p.Lys634Thr) c.1895A>C (p.Lys632Thr) c.1892A>C (p.Lys631Thr) c.1886A>C (p.Lys629Thr) c.1877A>C (p.Lys626Thr) c.1874A>C (p.Lys625Thr) c.1760A>C (p.Lys587Thr) c.1667A>C (p.Lys556Thr) n.515+5283T>G n.722+5283T>G c.1955A>C (p.Lys652Thr) c.1652A>C (p.Lys551Thr) c.1880A>C (p.Lys627Thr) n.4368A>C n.5024A>C n.5484A>C | |
| 7 | g.148810369T>A | CA369712622 | EZH2 | n.3893A>T c.*1055A>T (n.*1055A>T) c.*889A>T (n.*889A>T) n.3712A>T n.2884A>T n.2309A>T n.2371A>T c.1993A>T (p.Lys665Ter) c.1861A>T (p.Lys621Ter) c.1978A>T (p.Lys660Ter) n.245A>T c.1825A>T (p.Lys609Ter) c.1951A>T (p.Lys651Ter) c.*1983A>T (n.*1983A>T) c.2002A>T (p.Lys668Ter) c.1975A>T (p.Lys659Ter) c.1849A>T (p.Lys617Ter) c.2017A>T (p.Lys673Ter) c.1990A>T (p.Lys664Ter) c.1969A>T (p.Lys657Ter) c.1966A>T (p.Lys656Ter) c.1927A>T (p.Lys643Ter) c.1900A>T (p.Lys634Ter) c.1894A>T (p.Lys632Ter) c.1891A>T (p.Lys631Ter) c.1885A>T (p.Lys629Ter) c.1876A>T (p.Lys626Ter) c.1873A>T (p.Lys625Ter) c.1759A>T (p.Lys587Ter) c.1666A>T (p.Lys556Ter) n.515+5284T>A n.722+5284T>A c.1954A>T (p.Lys652Ter) c.1651A>T (p.Lys551Ter) c.1879A>T (p.Lys627Ter) n.4367A>T n.5023A>T n.5483A>T | |
| 7 | g.148810369T>C | CA369712624 | EZH2 | n.3893A>G c.*1055A>G (n.*1055A>G) c.*889A>G (n.*889A>G) n.3712A>G n.2884A>G n.2309A>G n.2371A>G c.1993A>G (p.Lys665Glu) c.1861A>G (p.Lys621Glu) c.1978A>G (p.Lys660Glu) n.245A>G c.1825A>G (p.Lys609Glu) c.1951A>G (p.Lys651Glu) c.*1983A>G (n.*1983A>G) c.2002A>G (p.Lys668Glu) c.1975A>G (p.Lys659Glu) c.1849A>G (p.Lys617Glu) c.2017A>G (p.Lys673Glu) c.1990A>G (p.Lys664Glu) c.1969A>G (p.Lys657Glu) c.1966A>G (p.Lys656Glu) c.1927A>G (p.Lys643Glu) c.1900A>G (p.Lys634Glu) c.1894A>G (p.Lys632Glu) c.1891A>G (p.Lys631Glu) c.1885A>G (p.Lys629Glu) c.1876A>G (p.Lys626Glu) c.1873A>G (p.Lys625Glu) c.1759A>G (p.Lys587Glu) c.1666A>G (p.Lys556Glu) n.515+5284T>C n.722+5284T>C c.1954A>G (p.Lys652Glu) c.1651A>G (p.Lys551Glu) c.1879A>G (p.Lys627Glu) n.4367A>G n.5023A>G n.5483A>G | |
| 7 | g.148810369T>G | CA369712626 | EZH2 | n.3893A>C c.*1055A>C (n.*1055A>C) c.*889A>C (n.*889A>C) n.3712A>C n.2884A>C n.2309A>C n.2371A>C c.1993A>C (p.Lys665Gln) c.1861A>C (p.Lys621Gln) c.1978A>C (p.Lys660Gln) n.245A>C c.1825A>C (p.Lys609Gln) c.1951A>C (p.Lys651Gln) c.*1983A>C (n.*1983A>C) c.2002A>C (p.Lys668Gln) c.1975A>C (p.Lys659Gln) c.1849A>C (p.Lys617Gln) c.2017A>C (p.Lys673Gln) c.1990A>C (p.Lys664Gln) c.1969A>C (p.Lys657Gln) c.1966A>C (p.Lys656Gln) c.1927A>C (p.Lys643Gln) c.1900A>C (p.Lys634Gln) c.1894A>C (p.Lys632Gln) c.1891A>C (p.Lys631Gln) c.1885A>C (p.Lys629Gln) c.1876A>C (p.Lys626Gln) c.1873A>C (p.Lys625Gln) c.1759A>C (p.Lys587Gln) c.1666A>C (p.Lys556Gln) n.515+5284T>G n.722+5284T>G c.1954A>C (p.Lys652Gln) c.1651A>C (p.Lys551Gln) c.1879A>C (p.Lys627Gln) n.4367A>C n.5023A>C n.5483A>C | |
| 7 | g.148810370A>C | CA369712629 | EZH2 | n.3892T>G c.*1054T>G (n.*1054T>G) c.*888T>G (n.*888T>G) n.3711T>G n.2883T>G n.2308T>G n.2370T>G c.1992T>G (p.Asp664Glu) c.1860T>G (p.Asp620Glu) c.1977T>G (p.Asp659Glu) n.244T>G c.1824T>G (p.Asp608Glu) c.1950T>G (p.Asp650Glu) c.*1982T>G (n.*1982T>G) c.2001T>G (p.Asp667Glu) c.1974T>G (p.Asp658Glu) c.1848T>G (p.Asp616Glu) c.2016T>G (p.Asp672Glu) c.1989T>G (p.Asp663Glu) c.1968T>G (p.Asp656Glu) c.1965T>G (p.Asp655Glu) c.1926T>G (p.Asp642Glu) c.1899T>G (p.Asp633Glu) c.1893T>G (p.Asp631Glu) c.1890T>G (p.Asp630Glu) c.1884T>G (p.Asp628Glu) c.1875T>G (p.Asp625Glu) c.1872T>G (p.Asp624Glu) c.1758T>G (p.Asp586Glu) c.1665T>G (p.Asp555Glu) n.515+5285A>C n.722+5285A>C c.1953T>G (p.Asp651Glu) c.1650T>G (p.Asp550Glu) c.1878T>G (p.Asp626Glu) n.4366T>G n.5022T>G n.5482T>G | COSMIC |
| 7 | g.148810370A>G | CA458345774 | EZH2 | n.3892T>C c.*1054T>C (n.*1054T>C) c.*888T>C (n.*888T>C) n.3711T>C n.2883T>C n.2308T>C n.2370T>C c.1992T>C (p.Asp664=) c.1860T>C (p.Asp620=) c.1977T>C (p.Asp659=) n.244T>C c.1824T>C (p.Asp608=) c.1950T>C (p.Asp650=) c.*1982T>C (n.*1982T>C) c.2001T>C (p.Asp667=) c.1974T>C (p.Asp658=) c.1848T>C (p.Asp616=) c.2016T>C (p.Asp672=) c.1989T>C (p.Asp663=) c.1968T>C (p.Asp656=) c.1965T>C (p.Asp655=) c.1926T>C (p.Asp642=) c.1899T>C (p.Asp633=) c.1893T>C (p.Asp631=) c.1890T>C (p.Asp630=) c.1884T>C (p.Asp628=) c.1875T>C (p.Asp625=) c.1872T>C (p.Asp624=) c.1758T>C (p.Asp586=) c.1665T>C (p.Asp555=) n.515+5285A>G n.722+5285A>G c.1953T>C (p.Asp651=) c.1650T>C (p.Asp550=) c.1878T>C (p.Asp626=) n.4366T>C n.5022T>C n.5482T>C | |
| 7 | g.148810370A>T | CA369712628 | EZH2 | n.3892T>A c.*1054T>A (n.*1054T>A) c.*888T>A (n.*888T>A) n.3711T>A n.2883T>A n.2308T>A n.2370T>A c.1992T>A (p.Asp664Glu) c.1860T>A (p.Asp620Glu) c.1977T>A (p.Asp659Glu) n.244T>A c.1824T>A (p.Asp608Glu) c.1950T>A (p.Asp650Glu) c.*1982T>A (n.*1982T>A) c.2001T>A (p.Asp667Glu) c.1974T>A (p.Asp658Glu) c.1848T>A (p.Asp616Glu) c.2016T>A (p.Asp672Glu) c.1989T>A (p.Asp663Glu) c.1968T>A (p.Asp656Glu) c.1965T>A (p.Asp655Glu) c.1926T>A (p.Asp642Glu) c.1899T>A (p.Asp633Glu) c.1893T>A (p.Asp631Glu) c.1890T>A (p.Asp630Glu) c.1884T>A (p.Asp628Glu) c.1875T>A (p.Asp625Glu) c.1872T>A (p.Asp624Glu) c.1758T>A (p.Asp586Glu) c.1665T>A (p.Asp555Glu) n.515+5285A>T n.722+5285A>T c.1953T>A (p.Asp651Glu) c.1650T>A (p.Asp550Glu) c.1878T>A (p.Asp626Glu) n.4366T>A n.5022T>A n.5482T>A | gnomAD v4 COSMIC |
| 7 | g.148810371T>A | CA369712630 | EZH2 | n.3891A>T c.*1053A>T (n.*1053A>T) c.*887A>T (n.*887A>T) n.3710A>T n.2882A>T n.2307A>T n.2369A>T c.1991A>T (p.Asp664Val) c.1859A>T (p.Asp620Val) c.1976A>T (p.Asp659Val) n.243A>T c.1823A>T (p.Asp608Val) c.1949A>T (p.Asp650Val) c.*1981A>T (n.*1981A>T) c.2000A>T (p.Asp667Val) c.1973A>T (p.Asp658Val) c.1847A>T (p.Asp616Val) c.2015A>T (p.Asp672Val) c.1988A>T (p.Asp663Val) c.1967A>T (p.Asp656Val) c.1964A>T (p.Asp655Val) c.1925A>T (p.Asp642Val) c.1898A>T (p.Asp633Val) c.1892A>T (p.Asp631Val) c.1889A>T (p.Asp630Val) c.1883A>T (p.Asp628Val) c.1874A>T (p.Asp625Val) c.1871A>T (p.Asp624Val) c.1757A>T (p.Asp586Val) c.1664A>T (p.Asp555Val) n.515+5286T>A n.722+5286T>A c.1952A>T (p.Asp651Val) c.1649A>T (p.Asp550Val) c.1877A>T (p.Asp626Val) n.4365A>T n.5021A>T n.5481A>T | COSMIC |
| 7 | g.148810371T>C | CA4547737 | EZH2 | n.3891A>G c.*1053A>G (n.*1053A>G) c.*887A>G (n.*887A>G) n.3710A>G n.2882A>G n.2307A>G n.2369A>G c.1991A>G (p.Asp664Gly) c.1859A>G (p.Asp620Gly) c.1976A>G (p.Asp659Gly) n.243A>G c.1823A>G (p.Asp608Gly) c.1949A>G (p.Asp650Gly) c.*1981A>G (n.*1981A>G) c.2000A>G (p.Asp667Gly) c.1973A>G (p.Asp658Gly) c.1847A>G (p.Asp616Gly) c.2015A>G (p.Asp672Gly) c.1988A>G (p.Asp663Gly) c.1967A>G (p.Asp656Gly) c.1964A>G (p.Asp655Gly) c.1925A>G (p.Asp642Gly) c.1898A>G (p.Asp633Gly) c.1892A>G (p.Asp631Gly) c.1889A>G (p.Asp630Gly) c.1883A>G (p.Asp628Gly) c.1874A>G (p.Asp625Gly) c.1871A>G (p.Asp624Gly) c.1757A>G (p.Asp586Gly) c.1664A>G (p.Asp555Gly) n.515+5286T>C n.722+5286T>C c.1952A>G (p.Asp651Gly) c.1649A>G (p.Asp550Gly) c.1877A>G (p.Asp626Gly) n.4365A>G n.5021A>G n.5481A>G | dbSNP ExAC gnomAD v2 COSMIC COSMIC |
| 7 | g.148810371T>G | CA369712631 | EZH2 | n.3891A>C c.*1053A>C (n.*1053A>C) c.*887A>C (n.*887A>C) n.3710A>C n.2882A>C n.2307A>C n.2369A>C c.1991A>C (p.Asp664Ala) c.1859A>C (p.Asp620Ala) c.1976A>C (p.Asp659Ala) n.243A>C c.1823A>C (p.Asp608Ala) c.1949A>C (p.Asp650Ala) c.*1981A>C (n.*1981A>C) c.2000A>C (p.Asp667Ala) c.1973A>C (p.Asp658Ala) c.1847A>C (p.Asp616Ala) c.2015A>C (p.Asp672Ala) c.1988A>C (p.Asp663Ala) c.1967A>C (p.Asp656Ala) c.1964A>C (p.Asp655Ala) c.1925A>C (p.Asp642Ala) c.1898A>C (p.Asp633Ala) c.1892A>C (p.Asp631Ala) c.1889A>C (p.Asp630Ala) c.1883A>C (p.Asp628Ala) c.1874A>C (p.Asp625Ala) c.1871A>C (p.Asp624Ala) c.1757A>C (p.Asp586Ala) c.1664A>C (p.Asp555Ala) n.515+5286T>G n.722+5286T>G c.1952A>C (p.Asp651Ala) c.1649A>C (p.Asp550Ala) c.1877A>C (p.Asp626Ala) n.4365A>C n.5021A>C n.5481A>C | COSMIC |
| 7 | g.148810371T= | CA1751422395 | EZH2 | n.3891A= c.*1053A= (n.*1053A=) c.*887A= (n.*887A=) n.3710A= n.2882A= n.2307A= n.2369A= c.1991A= (p.Asp664=) c.1859A= (p.Asp620=) c.1976A= (p.Asp659=) n.243A= c.1823A= (p.Asp608=) c.1949A= (p.Asp650=) c.*1981A= (n.*1981A=) c.2000A= (p.Asp667=) c.1973A= (p.Asp658=) c.1847A= (p.Asp616=) c.2015A= (p.Asp672=) c.1988A= (p.Asp663=) c.1967A= (p.Asp656=) c.1964A= (p.Asp655=) c.1925A= (p.Asp642=) c.1898A= (p.Asp633=) c.1892A= (p.Asp631=) c.1889A= (p.Asp630=) c.1883A= (p.Asp628=) c.1874A= (p.Asp625=) c.1871A= (p.Asp624=) c.1757A= (p.Asp586=) c.1664A= (p.Asp555=) n.515+5286T= n.722+5286T= c.1952A= (p.Asp651=) c.1649A= (p.Asp550=) c.1877A= (p.Asp626=) n.4365A= n.5021A= n.5481A= | |
| 7 | g.148810372C>A | CA16612185 | EZH2 | n.3890G>T c.*1052G>T (n.*1052G>T) c.*886G>T (n.*886G>T) n.3709G>T n.2881G>T n.2306G>T n.2368G>T c.1990G>T (p.Asp664Tyr) c.1858G>T (p.Asp620Tyr) c.1975G>T (p.Asp659Tyr) n.242G>T c.1822G>T (p.Asp608Tyr) c.1948G>T (p.Asp650Tyr) c.*1980G>T (n.*1980G>T) c.1999G>T (p.Asp667Tyr) c.1972G>T (p.Asp658Tyr) c.1846G>T (p.Asp616Tyr) c.2014G>T (p.Asp672Tyr) c.1987G>T (p.Asp663Tyr) c.1966G>T (p.Asp656Tyr) c.1963G>T (p.Asp655Tyr) c.1924G>T (p.Asp642Tyr) c.1897G>T (p.Asp633Tyr) c.1891G>T (p.Asp631Tyr) c.1888G>T (p.Asp630Tyr) c.1882G>T (p.Asp628Tyr) c.1873G>T (p.Asp625Tyr) c.1870G>T (p.Asp624Tyr) c.1756G>T (p.Asp586Tyr) c.1663G>T (p.Asp555Tyr) n.515+5287C>A n.722+5287C>A c.1951G>T (p.Asp651Tyr) c.1648G>T (p.Asp550Tyr) c.1876G>T (p.Asp626Tyr) n.4364G>T n.5020G>T n.5480G>T | ClinVar dbSNP |
| 7 | g.148810372C= | CA1751422398 | EZH2 | n.3890G= c.*1052G= (n.*1052G=) c.*886G= (n.*886G=) n.3709G= n.2881G= n.2306G= n.2368G= c.1990G= (p.Asp664=) c.1858G= (p.Asp620=) c.1975G= (p.Asp659=) n.242G= c.1822G= (p.Asp608=) c.1948G= (p.Asp650=) c.*1980G= (n.*1980G=) c.1999G= (p.Asp667=) c.1972G= (p.Asp658=) c.1846G= (p.Asp616=) c.2014G= (p.Asp672=) c.1987G= (p.Asp663=) c.1966G= (p.Asp656=) c.1963G= (p.Asp655=) c.1924G= (p.Asp642=) c.1897G= (p.Asp633=) c.1891G= (p.Asp631=) c.1888G= (p.Asp630=) c.1882G= (p.Asp628=) c.1873G= (p.Asp625=) c.1870G= (p.Asp624=) c.1756G= (p.Asp586=) c.1663G= (p.Asp555=) n.515+5287C= n.722+5287C= c.1951G= (p.Asp651=) c.1648G= (p.Asp550=) c.1876G= (p.Asp626=) n.4364G= n.5020G= n.5480G= | |
| 7 | g.148810372C>G | CA369712632 | EZH2 | n.3890G>C c.*1052G>C (n.*1052G>C) c.*886G>C (n.*886G>C) n.3709G>C n.2881G>C n.2306G>C n.2368G>C c.1990G>C (p.Asp664His) c.1858G>C (p.Asp620His) c.1975G>C (p.Asp659His) n.242G>C c.1822G>C (p.Asp608His) c.1948G>C (p.Asp650His) c.*1980G>C (n.*1980G>C) c.1999G>C (p.Asp667His) c.1972G>C (p.Asp658His) c.1846G>C (p.Asp616His) c.2014G>C (p.Asp672His) c.1987G>C (p.Asp663His) c.1966G>C (p.Asp656His) c.1963G>C (p.Asp655His) c.1924G>C (p.Asp642His) c.1897G>C (p.Asp633His) c.1891G>C (p.Asp631His) c.1888G>C (p.Asp630His) c.1882G>C (p.Asp628His) c.1873G>C (p.Asp625His) c.1870G>C (p.Asp624His) c.1756G>C (p.Asp586His) c.1663G>C (p.Asp555His) n.515+5287C>G n.722+5287C>G c.1951G>C (p.Asp651His) c.1648G>C (p.Asp550His) c.1876G>C (p.Asp626His) n.4364G>C n.5020G>C n.5480G>C | |
| 7 | g.148810372C>T | CA369712634 | EZH2 | n.3890G>A c.*1052G>A (n.*1052G>A) c.*886G>A (n.*886G>A) n.3709G>A n.2881G>A n.2306G>A n.2368G>A c.1990G>A (p.Asp664Asn) c.1858G>A (p.Asp620Asn) c.1975G>A (p.Asp659Asn) n.242G>A c.1822G>A (p.Asp608Asn) c.1948G>A (p.Asp650Asn) c.*1980G>A (n.*1980G>A) c.1999G>A (p.Asp667Asn) c.1972G>A (p.Asp658Asn) c.1846G>A (p.Asp616Asn) c.2014G>A (p.Asp672Asn) c.1987G>A (p.Asp663Asn) c.1966G>A (p.Asp656Asn) c.1963G>A (p.Asp655Asn) c.1924G>A (p.Asp642Asn) c.1897G>A (p.Asp633Asn) c.1891G>A (p.Asp631Asn) c.1888G>A (p.Asp630Asn) c.1882G>A (p.Asp628Asn) c.1873G>A (p.Asp625Asn) c.1870G>A (p.Asp624Asn) c.1756G>A (p.Asp586Asn) c.1663G>A (p.Asp555Asn) n.515+5287C>T n.722+5287C>T c.1951G>A (p.Asp651Asn) c.1648G>A (p.Asp550Asn) c.1876G>A (p.Asp626Asn) n.4364G>A n.5020G>A n.5480G>A | |
| 7 | g.148810373A>C | CA369712638 | EZH2 | n.3889T>G c.*1051T>G (n.*1051T>G) c.*885T>G (n.*885T>G) n.3708T>G n.2880T>G n.2305T>G n.2367T>G c.1989T>G (p.Tyr663Ter) c.1857T>G (p.Tyr619Ter) c.1974T>G (p.Tyr658Ter) n.241T>G c.1821T>G (p.Tyr607Ter) c.1947T>G (p.Tyr649Ter) c.*1979T>G (n.*1979T>G) c.1998T>G (p.Tyr666Ter) c.1971T>G (p.Tyr657Ter) c.1845T>G (p.Tyr615Ter) c.2013T>G (p.Tyr671Ter) c.1986T>G (p.Tyr662Ter) c.1965T>G (p.Tyr655Ter) c.1962T>G (p.Tyr654Ter) c.1923T>G (p.Tyr641Ter) c.1896T>G (p.Tyr632Ter) c.1890T>G (p.Tyr630Ter) c.1887T>G (p.Tyr629Ter) c.1881T>G (p.Tyr627Ter) c.1872T>G (p.Tyr624Ter) c.1869T>G (p.Tyr623Ter) c.1755T>G (p.Tyr585Ter) c.1662T>G (p.Tyr554Ter) n.515+5288A>C n.722+5288A>C c.1950T>G (p.Tyr650Ter) c.1647T>G (p.Tyr549Ter) c.1875T>G (p.Tyr625Ter) n.4363T>G n.5019T>G n.5479T>G | |
| 7 | g.148810373A>G | CA458345775 | EZH2 | n.3889T>C c.*1051T>C (n.*1051T>C) c.*885T>C (n.*885T>C) n.3708T>C n.2880T>C n.2305T>C n.2367T>C c.1989T>C (p.Tyr663=) c.1857T>C (p.Tyr619=) c.1974T>C (p.Tyr658=) n.241T>C c.1821T>C (p.Tyr607=) c.1947T>C (p.Tyr649=) c.*1979T>C (n.*1979T>C) c.1998T>C (p.Tyr666=) c.1971T>C (p.Tyr657=) c.1845T>C (p.Tyr615=) c.2013T>C (p.Tyr671=) c.1986T>C (p.Tyr662=) c.1965T>C (p.Tyr655=) c.1962T>C (p.Tyr654=) c.1923T>C (p.Tyr641=) c.1896T>C (p.Tyr632=) c.1890T>C (p.Tyr630=) c.1887T>C (p.Tyr629=) c.1881T>C (p.Tyr627=) c.1872T>C (p.Tyr624=) c.1869T>C (p.Tyr623=) c.1755T>C (p.Tyr585=) c.1662T>C (p.Tyr554=) n.515+5288A>G n.722+5288A>G c.1950T>C (p.Tyr650=) c.1647T>C (p.Tyr549=) c.1875T>C (p.Tyr625=) n.4363T>C n.5019T>C n.5479T>C | gnomAD v4 |
| 7 | g.148810373A>T | CA369712636 | EZH2 | n.3889T>A c.*1051T>A (n.*1051T>A) c.*885T>A (n.*885T>A) n.3708T>A n.2880T>A n.2305T>A n.2367T>A c.1989T>A (p.Tyr663Ter) c.1857T>A (p.Tyr619Ter) c.1974T>A (p.Tyr658Ter) n.241T>A c.1821T>A (p.Tyr607Ter) c.1947T>A (p.Tyr649Ter) c.*1979T>A (n.*1979T>A) c.1998T>A (p.Tyr666Ter) c.1971T>A (p.Tyr657Ter) c.1845T>A (p.Tyr615Ter) c.2013T>A (p.Tyr671Ter) c.1986T>A (p.Tyr662Ter) c.1965T>A (p.Tyr655Ter) c.1962T>A (p.Tyr654Ter) c.1923T>A (p.Tyr641Ter) c.1896T>A (p.Tyr632Ter) c.1890T>A (p.Tyr630Ter) c.1887T>A (p.Tyr629Ter) c.1881T>A (p.Tyr627Ter) c.1872T>A (p.Tyr624Ter) c.1869T>A (p.Tyr623Ter) c.1755T>A (p.Tyr585Ter) c.1662T>A (p.Tyr554Ter) n.515+5288A>T n.722+5288A>T c.1950T>A (p.Tyr650Ter) c.1647T>A (p.Tyr549Ter) c.1875T>A (p.Tyr625Ter) n.4363T>A n.5019T>A n.5479T>A | |
| 7 | g.148810374T>A | CA369712639 | EZH2 | n.3888A>T c.*1050A>T (n.*1050A>T) c.*884A>T (n.*884A>T) n.3707A>T n.2879A>T n.2304A>T n.2366A>T c.1988A>T (p.Tyr663Phe) c.1856A>T (p.Tyr619Phe) c.1973A>T (p.Tyr658Phe) n.240A>T c.1820A>T (p.Tyr607Phe) c.1946A>T (p.Tyr649Phe) c.*1978A>T (n.*1978A>T) c.1997A>T (p.Tyr666Phe) c.1970A>T (p.Tyr657Phe) c.1844A>T (p.Tyr615Phe) c.2012A>T (p.Tyr671Phe) c.1985A>T (p.Tyr662Phe) c.1964A>T (p.Tyr655Phe) c.1961A>T (p.Tyr654Phe) c.1922A>T (p.Tyr641Phe) c.1895A>T (p.Tyr632Phe) c.1889A>T (p.Tyr630Phe) c.1886A>T (p.Tyr629Phe) c.1880A>T (p.Tyr627Phe) c.1871A>T (p.Tyr624Phe) c.1868A>T (p.Tyr623Phe) c.1754A>T (p.Tyr585Phe) c.1661A>T (p.Tyr554Phe) n.515+5289T>A n.722+5289T>A c.1949A>T (p.Tyr650Phe) c.1646A>T (p.Tyr549Phe) c.1874A>T (p.Tyr625Phe) n.4362A>T n.5018A>T n.5478A>T | |
| 7 | g.148810374T>C | CA369712641 | EZH2 | n.3888A>G c.*1050A>G (n.*1050A>G) c.*884A>G (n.*884A>G) n.3707A>G n.2879A>G n.2304A>G n.2366A>G c.1988A>G (p.Tyr663Cys) c.1856A>G (p.Tyr619Cys) c.1973A>G (p.Tyr658Cys) n.240A>G c.1820A>G (p.Tyr607Cys) c.1946A>G (p.Tyr649Cys) c.*1978A>G (n.*1978A>G) c.1997A>G (p.Tyr666Cys) c.1970A>G (p.Tyr657Cys) c.1844A>G (p.Tyr615Cys) c.2012A>G (p.Tyr671Cys) c.1985A>G (p.Tyr662Cys) c.1964A>G (p.Tyr655Cys) c.1961A>G (p.Tyr654Cys) c.1922A>G (p.Tyr641Cys) c.1895A>G (p.Tyr632Cys) c.1889A>G (p.Tyr630Cys) c.1886A>G (p.Tyr629Cys) c.1880A>G (p.Tyr627Cys) c.1871A>G (p.Tyr624Cys) c.1868A>G (p.Tyr623Cys) c.1754A>G (p.Tyr585Cys) c.1661A>G (p.Tyr554Cys) n.515+5289T>C n.722+5289T>C c.1949A>G (p.Tyr650Cys) c.1646A>G (p.Tyr549Cys) c.1874A>G (p.Tyr625Cys) n.4362A>G n.5018A>G n.5478A>G | COSMIC COSMIC |
| 7 | g.148810374T>G | CA369712643 | EZH2 | n.3888A>C c.*1050A>C (n.*1050A>C) c.*884A>C (n.*884A>C) n.3707A>C n.2879A>C n.2304A>C n.2366A>C c.1988A>C (p.Tyr663Ser) c.1856A>C (p.Tyr619Ser) c.1973A>C (p.Tyr658Ser) n.240A>C c.1820A>C (p.Tyr607Ser) c.1946A>C (p.Tyr649Ser) c.*1978A>C (n.*1978A>C) c.1997A>C (p.Tyr666Ser) c.1970A>C (p.Tyr657Ser) c.1844A>C (p.Tyr615Ser) c.2012A>C (p.Tyr671Ser) c.1985A>C (p.Tyr662Ser) c.1964A>C (p.Tyr655Ser) c.1961A>C (p.Tyr654Ser) c.1922A>C (p.Tyr641Ser) c.1895A>C (p.Tyr632Ser) c.1889A>C (p.Tyr630Ser) c.1886A>C (p.Tyr629Ser) c.1880A>C (p.Tyr627Ser) c.1871A>C (p.Tyr624Ser) c.1868A>C (p.Tyr623Ser) c.1754A>C (p.Tyr585Ser) c.1661A>C (p.Tyr554Ser) n.515+5289T>G n.722+5289T>G c.1949A>C (p.Tyr650Ser) c.1646A>C (p.Tyr549Ser) c.1874A>C (p.Tyr625Ser) n.4362A>C n.5018A>C n.5478A>C | |
| 7 | g.148810375A>C | CA369712645 | EZH2 | n.3887T>G c.*1049T>G (n.*1049T>G) c.*883T>G (n.*883T>G) n.3706T>G n.2878T>G n.2303T>G n.2365T>G c.1987T>G (p.Tyr663Asp) c.1855T>G (p.Tyr619Asp) c.1972T>G (p.Tyr658Asp) n.239T>G c.1819T>G (p.Tyr607Asp) c.1945T>G (p.Tyr649Asp) c.*1977T>G (n.*1977T>G) c.1996T>G (p.Tyr666Asp) c.1969T>G (p.Tyr657Asp) c.1843T>G (p.Tyr615Asp) c.2011T>G (p.Tyr671Asp) c.1984T>G (p.Tyr662Asp) c.1963T>G (p.Tyr655Asp) c.1960T>G (p.Tyr654Asp) c.1921T>G (p.Tyr641Asp) c.1894T>G (p.Tyr632Asp) c.1888T>G (p.Tyr630Asp) c.1885T>G (p.Tyr629Asp) c.1879T>G (p.Tyr627Asp) c.1870T>G (p.Tyr624Asp) c.1867T>G (p.Tyr623Asp) c.1753T>G (p.Tyr585Asp) c.1660T>G (p.Tyr554Asp) n.515+5290A>C n.722+5290A>C c.1948T>G (p.Tyr650Asp) c.1645T>G (p.Tyr549Asp) c.1873T>G (p.Tyr625Asp) n.4361T>G n.5017T>G n.5477T>G | |
| 7 | g.148810375A>G | CA369712646 | EZH2 | n.3887T>C c.*1049T>C (n.*1049T>C) c.*883T>C (n.*883T>C) n.3706T>C n.2878T>C n.2303T>C n.2365T>C c.1987T>C (p.Tyr663His) c.1855T>C (p.Tyr619His) c.1972T>C (p.Tyr658His) n.239T>C c.1819T>C (p.Tyr607His) c.1945T>C (p.Tyr649His) c.*1977T>C (n.*1977T>C) c.1996T>C (p.Tyr666His) c.1969T>C (p.Tyr657His) c.1843T>C (p.Tyr615His) c.2011T>C (p.Tyr671His) c.1984T>C (p.Tyr662His) c.1963T>C (p.Tyr655His) c.1960T>C (p.Tyr654His) c.1921T>C (p.Tyr641His) c.1894T>C (p.Tyr632His) c.1888T>C (p.Tyr630His) c.1885T>C (p.Tyr629His) c.1879T>C (p.Tyr627His) c.1870T>C (p.Tyr624His) c.1867T>C (p.Tyr623His) c.1753T>C (p.Tyr585His) c.1660T>C (p.Tyr554His) n.515+5290A>G n.722+5290A>G c.1948T>C (p.Tyr650His) c.1645T>C (p.Tyr549His) c.1873T>C (p.Tyr625His) n.4361T>C n.5017T>C n.5477T>C | |
| 7 | g.148810375A>T | CA369712648 | EZH2 | n.3887T>A c.*1049T>A (n.*1049T>A) c.*883T>A (n.*883T>A) n.3706T>A n.2878T>A n.2303T>A n.2365T>A c.1987T>A (p.Tyr663Asn) c.1855T>A (p.Tyr619Asn) c.1972T>A (p.Tyr658Asn) n.239T>A c.1819T>A (p.Tyr607Asn) c.1945T>A (p.Tyr649Asn) c.*1977T>A (n.*1977T>A) c.1996T>A (p.Tyr666Asn) c.1969T>A (p.Tyr657Asn) c.1843T>A (p.Tyr615Asn) c.2011T>A (p.Tyr671Asn) c.1984T>A (p.Tyr662Asn) c.1963T>A (p.Tyr655Asn) c.1960T>A (p.Tyr654Asn) c.1921T>A (p.Tyr641Asn) c.1894T>A (p.Tyr632Asn) c.1888T>A (p.Tyr630Asn) c.1885T>A (p.Tyr629Asn) c.1879T>A (p.Tyr627Asn) c.1870T>A (p.Tyr624Asn) c.1867T>A (p.Tyr623Asn) c.1753T>A (p.Tyr585Asn) c.1660T>A (p.Tyr554Asn) n.515+5290A>T n.722+5290A>T c.1948T>A (p.Tyr650Asn) c.1645T>A (p.Tyr549Asn) c.1873T>A (p.Tyr625Asn) n.4361T>A n.5017T>A n.5477T>A | |
| 7 | g.148810376C>A | CA458345776 | EZH2 | n.3886G>T c.*1048G>T (n.*1048G>T) c.*882G>T (n.*882G>T) n.3705G>T n.2877G>T n.2302G>T n.2364G>T c.1986G>T (p.Val662=) c.1854G>T (p.Val618=) c.1971G>T (p.Val657=) n.238G>T c.1818G>T (p.Val606=) c.1944G>T (p.Val648=) c.*1976G>T (n.*1976G>T) c.1995G>T (p.Val665=) c.1968G>T (p.Val656=) c.1842G>T (p.Val614=) c.2010G>T (p.Val670=) c.1983G>T (p.Val661=) c.1962G>T (p.Val654=) c.1959G>T (p.Val653=) c.1920G>T (p.Val640=) c.1893G>T (p.Val631=) c.1887G>T (p.Val629=) c.1884G>T (p.Val628=) c.1878G>T (p.Val626=) c.1869G>T (p.Val623=) c.1866G>T (p.Val622=) c.1752G>T (p.Val584=) c.1659G>T (p.Val553=) n.515+5291C>A n.722+5291C>A c.1947G>T (p.Val649=) c.1644G>T (p.Val548=) c.1872G>T (p.Val624=) n.4360G>T n.5016G>T n.5476G>T | dbSNP |
| 7 | g.148810376C= | CA1751422401 | EZH2 | n.3886G= c.*1048G= (n.*1048G=) c.*882G= (n.*882G=) n.3705G= n.2877G= n.2302G= n.2364G= c.1986G= (p.Val662=) c.1854G= (p.Val618=) c.1971G= (p.Val657=) n.238G= c.1818G= (p.Val606=) c.1944G= (p.Val648=) c.*1976G= (n.*1976G=) c.1995G= (p.Val665=) c.1968G= (p.Val656=) c.1842G= (p.Val614=) c.2010G= (p.Val670=) c.1983G= (p.Val661=) c.1962G= (p.Val654=) c.1959G= (p.Val653=) c.1920G= (p.Val640=) c.1893G= (p.Val631=) c.1887G= (p.Val629=) c.1884G= (p.Val628=) c.1878G= (p.Val626=) c.1869G= (p.Val623=) c.1866G= (p.Val622=) c.1752G= (p.Val584=) c.1659G= (p.Val553=) n.515+5291C= n.722+5291C= c.1947G= (p.Val649=) c.1644G= (p.Val548=) c.1872G= (p.Val624=) n.4360G= n.5016G= n.5476G= | |
| 7 | g.148810376C>G | CA458345777 | EZH2 | n.3886G>C c.*1048G>C (n.*1048G>C) c.*882G>C (n.*882G>C) n.3705G>C n.2877G>C n.2302G>C n.2364G>C c.1986G>C (p.Val662=) c.1854G>C (p.Val618=) c.1971G>C (p.Val657=) n.238G>C c.1818G>C (p.Val606=) c.1944G>C (p.Val648=) c.*1976G>C (n.*1976G>C) c.1995G>C (p.Val665=) c.1968G>C (p.Val656=) c.1842G>C (p.Val614=) c.2010G>C (p.Val670=) c.1983G>C (p.Val661=) c.1962G>C (p.Val654=) c.1959G>C (p.Val653=) c.1920G>C (p.Val640=) c.1893G>C (p.Val631=) c.1887G>C (p.Val629=) c.1884G>C (p.Val628=) c.1878G>C (p.Val626=) c.1869G>C (p.Val623=) c.1866G>C (p.Val622=) c.1752G>C (p.Val584=) c.1659G>C (p.Val553=) n.515+5291C>G n.722+5291C>G c.1947G>C (p.Val649=) c.1644G>C (p.Val548=) c.1872G>C (p.Val624=) n.4360G>C n.5016G>C n.5476G>C | |
| 7 | g.148810376C>T | CA458345778 | EZH2 | n.3886G>A c.*1048G>A (n.*1048G>A) c.*882G>A (n.*882G>A) n.3705G>A n.2877G>A n.2302G>A n.2364G>A c.1986G>A (p.Val662=) c.1854G>A (p.Val618=) c.1971G>A (p.Val657=) n.238G>A c.1818G>A (p.Val606=) c.1944G>A (p.Val648=) c.*1976G>A (n.*1976G>A) c.1995G>A (p.Val665=) c.1968G>A (p.Val656=) c.1842G>A (p.Val614=) c.2010G>A (p.Val670=) c.1983G>A (p.Val661=) c.1962G>A (p.Val654=) c.1959G>A (p.Val653=) c.1920G>A (p.Val640=) c.1893G>A (p.Val631=) c.1887G>A (p.Val629=) c.1884G>A (p.Val628=) c.1878G>A (p.Val626=) c.1869G>A (p.Val623=) c.1866G>A (p.Val622=) c.1752G>A (p.Val584=) c.1659G>A (p.Val553=) n.515+5291C>T n.722+5291C>T c.1947G>A (p.Val649=) c.1644G>A (p.Val548=) c.1872G>A (p.Val624=) n.4360G>A n.5016G>A n.5476G>A | |
| 7 | g.148810377A>C | CA369712650 | EZH2 | n.3885T>G c.*1047T>G (n.*1047T>G) c.*881T>G (n.*881T>G) n.3704T>G n.2876T>G n.2301T>G n.2363T>G c.1985T>G (p.Val662Gly) c.1853T>G (p.Val618Gly) c.1970T>G (p.Val657Gly) n.237T>G c.1817T>G (p.Val606Gly) c.1943T>G (p.Val648Gly) c.*1975T>G (n.*1975T>G) c.1994T>G (p.Val665Gly) c.1967T>G (p.Val656Gly) c.1841T>G (p.Val614Gly) c.2009T>G (p.Val670Gly) c.1982T>G (p.Val661Gly) c.1961T>G (p.Val654Gly) c.1958T>G (p.Val653Gly) c.1919T>G (p.Val640Gly) c.1892T>G (p.Val631Gly) c.1886T>G (p.Val629Gly) c.1883T>G (p.Val628Gly) c.1877T>G (p.Val626Gly) c.1868T>G (p.Val623Gly) c.1865T>G (p.Val622Gly) c.1751T>G (p.Val584Gly) c.1658T>G (p.Val553Gly) n.515+5292A>C n.722+5292A>C c.1946T>G (p.Val649Gly) c.1643T>G (p.Val548Gly) c.1871T>G (p.Val624Gly) n.4359T>G n.5015T>G n.5475T>G | |
| 7 | g.148810377A>G | CA369712653 | EZH2 | n.3885T>C c.*1047T>C (n.*1047T>C) c.*881T>C (n.*881T>C) n.3704T>C n.2876T>C n.2301T>C n.2363T>C c.1985T>C (p.Val662Ala) c.1853T>C (p.Val618Ala) c.1970T>C (p.Val657Ala) n.237T>C c.1817T>C (p.Val606Ala) c.1943T>C (p.Val648Ala) c.*1975T>C (n.*1975T>C) c.1994T>C (p.Val665Ala) c.1967T>C (p.Val656Ala) c.1841T>C (p.Val614Ala) c.2009T>C (p.Val670Ala) c.1982T>C (p.Val661Ala) c.1961T>C (p.Val654Ala) c.1958T>C (p.Val653Ala) c.1919T>C (p.Val640Ala) c.1892T>C (p.Val631Ala) c.1886T>C (p.Val629Ala) c.1883T>C (p.Val628Ala) c.1877T>C (p.Val626Ala) c.1868T>C (p.Val623Ala) c.1865T>C (p.Val622Ala) c.1751T>C (p.Val584Ala) c.1658T>C (p.Val553Ala) n.515+5292A>G n.722+5292A>G c.1946T>C (p.Val649Ala) c.1643T>C (p.Val548Ala) c.1871T>C (p.Val624Ala) n.4359T>C n.5015T>C n.5475T>C | |
| 7 | g.148810377A>T | CA369712651 | EZH2 | n.3885T>A c.*1047T>A (n.*1047T>A) c.*881T>A (n.*881T>A) n.3704T>A n.2876T>A n.2301T>A n.2363T>A c.1985T>A (p.Val662Glu) c.1853T>A (p.Val618Glu) c.1970T>A (p.Val657Glu) n.237T>A c.1817T>A (p.Val606Glu) c.1943T>A (p.Val648Glu) c.*1975T>A (n.*1975T>A) c.1994T>A (p.Val665Glu) c.1967T>A (p.Val656Glu) c.1841T>A (p.Val614Glu) c.2009T>A (p.Val670Glu) c.1982T>A (p.Val661Glu) c.1961T>A (p.Val654Glu) c.1958T>A (p.Val653Glu) c.1919T>A (p.Val640Glu) c.1892T>A (p.Val631Glu) c.1886T>A (p.Val629Glu) c.1883T>A (p.Val628Glu) c.1877T>A (p.Val626Glu) c.1868T>A (p.Val623Glu) c.1865T>A (p.Val622Glu) c.1751T>A (p.Val584Glu) c.1658T>A (p.Val553Glu) n.515+5292A>T n.722+5292A>T c.1946T>A (p.Val649Glu) c.1643T>A (p.Val548Glu) c.1871T>A (p.Val624Glu) n.4359T>A n.5015T>A n.5475T>A | |
| 7 | g.148810378C>A | CA369712654 | EZH2 | n.3884G>T c.*1046G>T (n.*1046G>T) c.*880G>T (n.*880G>T) n.3703G>T n.2875G>T n.2300G>T n.2362G>T c.1984G>T (p.Val662Leu) c.1852G>T (p.Val618Leu) c.1969G>T (p.Val657Leu) n.236G>T c.1816G>T (p.Val606Leu) c.1942G>T (p.Val648Leu) c.*1974G>T (n.*1974G>T) c.1993G>T (p.Val665Leu) c.1966G>T (p.Val656Leu) c.1840G>T (p.Val614Leu) c.2008G>T (p.Val670Leu) c.1981G>T (p.Val661Leu) c.1960G>T (p.Val654Leu) c.1957G>T (p.Val653Leu) c.1918G>T (p.Val640Leu) c.1891G>T (p.Val631Leu) c.1885G>T (p.Val629Leu) c.1882G>T (p.Val628Leu) c.1876G>T (p.Val626Leu) c.1867G>T (p.Val623Leu) c.1864G>T (p.Val622Leu) c.1750G>T (p.Val584Leu) c.1657G>T (p.Val553Leu) n.515+5293C>A n.722+5293C>A c.1945G>T (p.Val649Leu) c.1642G>T (p.Val548Leu) c.1870G>T (p.Val624Leu) n.4358G>T n.5014G>T n.5474G>T | |
| 7 | g.148810378C>G | CA369712656 | EZH2 | n.3884G>C c.*1046G>C (n.*1046G>C) c.*880G>C (n.*880G>C) n.3703G>C n.2875G>C n.2300G>C n.2362G>C c.1984G>C (p.Val662Leu) c.1852G>C (p.Val618Leu) c.1969G>C (p.Val657Leu) n.236G>C c.1816G>C (p.Val606Leu) c.1942G>C (p.Val648Leu) c.*1974G>C (n.*1974G>C) c.1993G>C (p.Val665Leu) c.1966G>C (p.Val656Leu) c.1840G>C (p.Val614Leu) c.2008G>C (p.Val670Leu) c.1981G>C (p.Val661Leu) c.1960G>C (p.Val654Leu) c.1957G>C (p.Val653Leu) c.1918G>C (p.Val640Leu) c.1891G>C (p.Val631Leu) c.1885G>C (p.Val629Leu) c.1882G>C (p.Val628Leu) c.1876G>C (p.Val626Leu) c.1867G>C (p.Val623Leu) c.1864G>C (p.Val622Leu) c.1750G>C (p.Val584Leu) c.1657G>C (p.Val553Leu) n.515+5293C>G n.722+5293C>G c.1945G>C (p.Val649Leu) c.1642G>C (p.Val548Leu) c.1870G>C (p.Val624Leu) n.4358G>C n.5014G>C n.5474G>C | |
| 7 | g.148810378C>T | CA369712658 | EZH2 | n.3884G>A c.*1046G>A (n.*1046G>A) c.*880G>A (n.*880G>A) n.3703G>A n.2875G>A n.2300G>A n.2362G>A c.1984G>A (p.Val662Met) c.1852G>A (p.Val618Met) c.1969G>A (p.Val657Met) n.236G>A c.1816G>A (p.Val606Met) c.1942G>A (p.Val648Met) c.*1974G>A (n.*1974G>A) c.1993G>A (p.Val665Met) c.1966G>A (p.Val656Met) c.1840G>A (p.Val614Met) c.2008G>A (p.Val670Met) c.1981G>A (p.Val661Met) c.1960G>A (p.Val654Met) c.1957G>A (p.Val653Met) c.1918G>A (p.Val640Met) c.1891G>A (p.Val631Met) c.1885G>A (p.Val629Met) c.1882G>A (p.Val628Met) c.1876G>A (p.Val626Met) c.1867G>A (p.Val623Met) c.1864G>A (p.Val622Met) c.1750G>A (p.Val584Met) c.1657G>A (p.Val553Met) n.515+5293C>T n.722+5293C>T c.1945G>A (p.Val649Met) c.1642G>A (p.Val548Met) c.1870G>A (p.Val624Met) n.4358G>A n.5014G>A n.5474G>A | |
| 7 | g.148810379T>A | CA369712660 | EZH2 | n.3883A>T c.*1045A>T (n.*1045A>T) c.*879A>T (n.*879A>T) n.3702A>T n.2874A>T n.2299A>T n.2361A>T c.1983A>T (p.Lys661Asn) c.1851A>T (p.Lys617Asn) c.1968A>T (p.Lys656Asn) n.235A>T c.1815A>T (p.Lys605Asn) c.1941A>T (p.Lys647Asn) c.*1973A>T (n.*1973A>T) c.1992A>T (p.Lys664Asn) c.1965A>T (p.Lys655Asn) c.1839A>T (p.Lys613Asn) c.2007A>T (p.Lys669Asn) c.1980A>T (p.Lys660Asn) c.1959A>T (p.Lys653Asn) c.1956A>T (p.Lys652Asn) c.1917A>T (p.Lys639Asn) c.1890A>T (p.Lys630Asn) c.1884A>T (p.Lys628Asn) c.1881A>T (p.Lys627Asn) c.1875A>T (p.Lys625Asn) c.1866A>T (p.Lys622Asn) c.1863A>T (p.Lys621Asn) c.1749A>T (p.Lys583Asn) c.1656A>T (p.Lys552Asn) n.515+5294T>A n.722+5294T>A c.1944A>T (p.Lys648Asn) c.1641A>T (p.Lys547Asn) c.1869A>T (p.Lys623Asn) n.4357A>T n.5013A>T n.5473A>T | |
| 7 | g.148810379T>C | CA4547738 | EZH2 | n.3883A>G c.*1045A>G (n.*1045A>G) c.*879A>G (n.*879A>G) n.3702A>G n.2874A>G n.2299A>G n.2361A>G c.1983A>G (p.Lys661=) c.1851A>G (p.Lys617=) c.1968A>G (p.Lys656=) n.235A>G c.1815A>G (p.Lys605=) c.1941A>G (p.Lys647=) c.*1973A>G (n.*1973A>G) c.1992A>G (p.Lys664=) c.1965A>G (p.Lys655=) c.1839A>G (p.Lys613=) c.2007A>G (p.Lys669=) c.1980A>G (p.Lys660=) c.1959A>G (p.Lys653=) c.1956A>G (p.Lys652=) c.1917A>G (p.Lys639=) c.1890A>G (p.Lys630=) c.1884A>G (p.Lys628=) c.1881A>G (p.Lys627=) c.1875A>G (p.Lys625=) c.1866A>G (p.Lys622=) c.1863A>G (p.Lys621=) c.1749A>G (p.Lys583=) c.1656A>G (p.Lys552=) n.515+5294T>C n.722+5294T>C c.1944A>G (p.Lys648=) c.1641A>G (p.Lys547=) c.1869A>G (p.Lys623=) n.4357A>G n.5013A>G n.5473A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.148810379T>G | CA369712662 | EZH2 | n.3883A>C c.*1045A>C (n.*1045A>C) c.*879A>C (n.*879A>C) n.3702A>C n.2874A>C n.2299A>C n.2361A>C c.1983A>C (p.Lys661Asn) c.1851A>C (p.Lys617Asn) c.1968A>C (p.Lys656Asn) n.235A>C c.1815A>C (p.Lys605Asn) c.1941A>C (p.Lys647Asn) c.*1973A>C (n.*1973A>C) c.1992A>C (p.Lys664Asn) c.1965A>C (p.Lys655Asn) c.1839A>C (p.Lys613Asn) c.2007A>C (p.Lys669Asn) c.1980A>C (p.Lys660Asn) c.1959A>C (p.Lys653Asn) c.1956A>C (p.Lys652Asn) c.1917A>C (p.Lys639Asn) c.1890A>C (p.Lys630Asn) c.1884A>C (p.Lys628Asn) c.1881A>C (p.Lys627Asn) c.1875A>C (p.Lys625Asn) c.1866A>C (p.Lys622Asn) c.1863A>C (p.Lys621Asn) c.1749A>C (p.Lys583Asn) c.1656A>C (p.Lys552Asn) n.515+5294T>G n.722+5294T>G c.1944A>C (p.Lys648Asn) c.1641A>C (p.Lys547Asn) c.1869A>C (p.Lys623Asn) n.4357A>C n.5013A>C n.5473A>C | COSMIC |
| 7 | g.148810379T= | CA1751422406 | EZH2 | n.3883A= c.*1045A= (n.*1045A=) c.*879A= (n.*879A=) n.3702A= n.2874A= n.2299A= n.2361A= c.1983A= (p.Lys661=) c.1851A= (p.Lys617=) c.1968A= (p.Lys656=) n.235A= c.1815A= (p.Lys605=) c.1941A= (p.Lys647=) c.*1973A= (n.*1973A=) c.1992A= (p.Lys664=) c.1965A= (p.Lys655=) c.1839A= (p.Lys613=) c.2007A= (p.Lys669=) c.1980A= (p.Lys660=) c.1959A= (p.Lys653=) c.1956A= (p.Lys652=) c.1917A= (p.Lys639=) c.1890A= (p.Lys630=) c.1884A= (p.Lys628=) c.1881A= (p.Lys627=) c.1875A= (p.Lys625=) c.1866A= (p.Lys622=) c.1863A= (p.Lys621=) c.1749A= (p.Lys583=) c.1656A= (p.Lys552=) n.515+5294T= n.722+5294T= c.1944A= (p.Lys648=) c.1641A= (p.Lys547=) c.1869A= (p.Lys623=) n.4357A= n.5013A= n.5473A= | |
| 7 | g.148810381del | CA458345779 | EZH2 | n.3883del c.*1045del (n.*1045del) c.*879del (n.*879del) n.3702del n.2874del n.2299del n.2361del c.1983del (p.Val662CysfsTer13) c.1851del (p.Val618CysfsTer13) c.1968del (p.Val657CysfsTer13) n.235del c.1815del (p.Val606CysfsTer13) c.1941del (p.Val648CysfsTer13) c.*1973del (n.*1973del) c.1992del (p.Val665CysfsTer13) c.1965del (p.Val656CysfsTer13) c.1839del (p.Val614CysfsTer13) c.2007del (p.Val670CysfsTer13) c.1980del (p.Val661CysfsTer13) c.1959del (p.Val654CysfsTer13) c.1956del (p.Val653CysfsTer13) c.1917del (p.Val640CysfsTer13) c.1890del (p.Val631CysfsTer13) c.1884del (p.Val629CysfsTer13) c.1881del (p.Val628CysfsTer13) c.1875del (p.Val626CysfsTer13) c.1866del (p.Val623CysfsTer13) c.1863del (p.Val622CysfsTer13) c.1749del (p.Val584CysfsTer13) c.1656del (p.Val553CysfsTer13) n.515+5296del n.722+5296del c.1944del (p.Val649CysfsTer13) c.1641del (p.Val548CysfsTer13) c.1869del (p.Val624CysfsTer13) n.4357del n.5013del n.5473del | COSMIC |
| 7 | g.148810380T>A | CA369712663 | EZH2 | n.3882A>T c.*1044A>T (n.*1044A>T) c.*878A>T (n.*878A>T) n.3701A>T n.2873A>T n.2298A>T n.2360A>T c.1982A>T (p.Lys661Ile) c.1850A>T (p.Lys617Ile) c.1967A>T (p.Lys656Ile) n.234A>T c.1814A>T (p.Lys605Ile) c.1940A>T (p.Lys647Ile) c.*1972A>T (n.*1972A>T) c.1991A>T (p.Lys664Ile) c.1964A>T (p.Lys655Ile) c.1838A>T (p.Lys613Ile) c.2006A>T (p.Lys669Ile) c.1979A>T (p.Lys660Ile) c.1958A>T (p.Lys653Ile) c.1955A>T (p.Lys652Ile) c.1916A>T (p.Lys639Ile) c.1889A>T (p.Lys630Ile) c.1883A>T (p.Lys628Ile) c.1880A>T (p.Lys627Ile) c.1874A>T (p.Lys625Ile) c.1865A>T (p.Lys622Ile) c.1862A>T (p.Lys621Ile) c.1748A>T (p.Lys583Ile) c.1655A>T (p.Lys552Ile) n.515+5295T>A n.722+5295T>A c.1943A>T (p.Lys648Ile) c.1640A>T (p.Lys547Ile) c.1868A>T (p.Lys623Ile) n.4356A>T n.5012A>T n.5472A>T | |
| 7 | g.148810380T>C | CA369712664 | EZH2 | n.3882A>G c.*1044A>G (n.*1044A>G) c.*878A>G (n.*878A>G) n.3701A>G n.2873A>G n.2298A>G n.2360A>G c.1982A>G (p.Lys661Arg) c.1850A>G (p.Lys617Arg) c.1967A>G (p.Lys656Arg) n.234A>G c.1814A>G (p.Lys605Arg) c.1940A>G (p.Lys647Arg) c.*1972A>G (n.*1972A>G) c.1991A>G (p.Lys664Arg) c.1964A>G (p.Lys655Arg) c.1838A>G (p.Lys613Arg) c.2006A>G (p.Lys669Arg) c.1979A>G (p.Lys660Arg) c.1958A>G (p.Lys653Arg) c.1955A>G (p.Lys652Arg) c.1916A>G (p.Lys639Arg) c.1889A>G (p.Lys630Arg) c.1883A>G (p.Lys628Arg) c.1880A>G (p.Lys627Arg) c.1874A>G (p.Lys625Arg) c.1865A>G (p.Lys622Arg) c.1862A>G (p.Lys621Arg) c.1748A>G (p.Lys583Arg) c.1655A>G (p.Lys552Arg) n.515+5295T>C n.722+5295T>C c.1943A>G (p.Lys648Arg) c.1640A>G (p.Lys547Arg) c.1868A>G (p.Lys623Arg) n.4356A>G n.5012A>G n.5472A>G | |
| 7 | g.148810380T>G | CA369712666 | EZH2 | n.3882A>C c.*1044A>C (n.*1044A>C) c.*878A>C (n.*878A>C) n.3701A>C n.2873A>C n.2298A>C n.2360A>C c.1982A>C (p.Lys661Thr) c.1850A>C (p.Lys617Thr) c.1967A>C (p.Lys656Thr) n.234A>C c.1814A>C (p.Lys605Thr) c.1940A>C (p.Lys647Thr) c.*1972A>C (n.*1972A>C) c.1991A>C (p.Lys664Thr) c.1964A>C (p.Lys655Thr) c.1838A>C (p.Lys613Thr) c.2006A>C (p.Lys669Thr) c.1979A>C (p.Lys660Thr) c.1958A>C (p.Lys653Thr) c.1955A>C (p.Lys652Thr) c.1916A>C (p.Lys639Thr) c.1889A>C (p.Lys630Thr) c.1883A>C (p.Lys628Thr) c.1880A>C (p.Lys627Thr) c.1874A>C (p.Lys625Thr) c.1865A>C (p.Lys622Thr) c.1862A>C (p.Lys621Thr) c.1748A>C (p.Lys583Thr) c.1655A>C (p.Lys552Thr) n.515+5295T>G n.722+5295T>G c.1943A>C (p.Lys648Thr) c.1640A>C (p.Lys547Thr) c.1868A>C (p.Lys623Thr) n.4356A>C n.5012A>C n.5472A>C |