WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.148809361_148809378del | CA2685464611 | EZH2 | n.3943_3960del c.*1105_*1122del (n.*1105_*1122del) c.*939_*956del (n.*939_*956del) n.3762_3779del n.3876_3893del n.2359_2376del n.2421_2438del c.2043_2060del (p.Ala682_Asn687del) c.1911_1928del (p.Ala638_Asn643del) c.2028_2045del (p.Ala677_Asn682del) c.1875_1892del (p.Ala626_Asn631del) c.2001_2018del (p.Ala668_Asn673del) c.*2033_*2050del (n.*2033_*2050del) c.2052_2069del (p.Ala685_Asn690del) c.2025_2042del (p.Ala676_Asn681del) c.1899_1916del (p.Ala634_Asn639del) c.2067_2084del (p.Ala690_Asn695del) c.2040_2057del (p.Ala681_Asn686del) c.2019_2036del (p.Ala674_Asn679del) c.2016_2033del (p.Ala673_Asn678del) c.1977_1994del (p.Ala660_Asn665del) c.1950_1967del (p.Ala651_Asn656del) c.1944_1961del (p.Ala649_Asn654del) c.1941_1958del (p.Ala648_Asn653del) c.1935_1952del (p.Ala646_Asn651del) c.1926_1943del (p.Ala643_Asn648del) c.1923_1940del (p.Ala642_Asn647del) c.1809_1826del (p.Ala604_Asn609del) c.1716_1733del (p.Ala573_Asn578del) n.515+4276_515+4293del n.722+4276_722+4293del c.2004_2021del (p.Ala669_Asn674del) c.1701_1718del (p.Ala568_Asn573del) c.1929_1946del (p.Ala644_Asn649del) n.4417_4434del n.5073_5090del n.5533_5550del | gnomAD v4 |
| 7 | g.148809376C>A | CA369712353 | EZH2 | n.3944G>T c.*1106G>T (n.*1106G>T) c.*940G>T (n.*940G>T) n.3763G>T n.3877G>T n.2360G>T n.2422G>T c.2044G>T (p.Ala682Ser) c.1912G>T (p.Ala638Ser) c.2029G>T (p.Ala677Ser) c.1876G>T (p.Ala626Ser) c.2002G>T (p.Ala668Ser) c.*2034G>T (n.*2034G>T) c.2053G>T (p.Ala685Ser) c.2026G>T (p.Ala676Ser) c.1900G>T (p.Ala634Ser) c.2068G>T (p.Ala690Ser) c.2041G>T (p.Ala681Ser) c.2020G>T (p.Ala674Ser) c.2017G>T (p.Ala673Ser) c.1978G>T (p.Ala660Ser) c.1951G>T (p.Ala651Ser) c.1945G>T (p.Ala649Ser) c.1942G>T (p.Ala648Ser) c.1936G>T (p.Ala646Ser) c.1927G>T (p.Ala643Ser) c.1924G>T (p.Ala642Ser) c.1810G>T (p.Ala604Ser) c.1717G>T (p.Ala573Ser) n.515+4291C>A n.722+4291C>A c.2005G>T (p.Ala669Ser) c.1702G>T (p.Ala568Ser) c.1930G>T (p.Ala644Ser) n.4418G>T n.5074G>T n.5534G>T | |
| 7 | g.148809376C= | CA1751421491 | EZH2 | n.3944G= c.*1106G= (n.*1106G=) c.*940G= (n.*940G=) n.3763G= n.3877G= n.2360G= n.2422G= c.2044G= (p.Ala682=) c.1912G= (p.Ala638=) c.2029G= (p.Ala677=) c.1876G= (p.Ala626=) c.2002G= (p.Ala668=) c.*2034G= (n.*2034G=) c.2053G= (p.Ala685=) c.2026G= (p.Ala676=) c.1900G= (p.Ala634=) c.2068G= (p.Ala690=) c.2041G= (p.Ala681=) c.2020G= (p.Ala674=) c.2017G= (p.Ala673=) c.1978G= (p.Ala660=) c.1951G= (p.Ala651=) c.1945G= (p.Ala649=) c.1942G= (p.Ala648=) c.1936G= (p.Ala646=) c.1927G= (p.Ala643=) c.1924G= (p.Ala642=) c.1810G= (p.Ala604=) c.1717G= (p.Ala573=) n.515+4291C= n.722+4291C= c.2005G= (p.Ala669=) c.1702G= (p.Ala568=) c.1930G= (p.Ala644=) n.4418G= n.5074G= n.5534G= | |
| 7 | g.148809376C>G | CA369712355 | EZH2 | n.3944G>C c.*1106G>C (n.*1106G>C) c.*940G>C (n.*940G>C) n.3763G>C n.3877G>C n.2360G>C n.2422G>C c.2044G>C (p.Ala682Pro) c.1912G>C (p.Ala638Pro) c.2029G>C (p.Ala677Pro) c.1876G>C (p.Ala626Pro) c.2002G>C (p.Ala668Pro) c.*2034G>C (n.*2034G>C) c.2053G>C (p.Ala685Pro) c.2026G>C (p.Ala676Pro) c.1900G>C (p.Ala634Pro) c.2068G>C (p.Ala690Pro) c.2041G>C (p.Ala681Pro) c.2020G>C (p.Ala674Pro) c.2017G>C (p.Ala673Pro) c.1978G>C (p.Ala660Pro) c.1951G>C (p.Ala651Pro) c.1945G>C (p.Ala649Pro) c.1942G>C (p.Ala648Pro) c.1936G>C (p.Ala646Pro) c.1927G>C (p.Ala643Pro) c.1924G>C (p.Ala642Pro) c.1810G>C (p.Ala604Pro) c.1717G>C (p.Ala573Pro) n.515+4291C>G n.722+4291C>G c.2005G>C (p.Ala669Pro) c.1702G>C (p.Ala568Pro) c.1930G>C (p.Ala644Pro) n.4418G>C n.5074G>C n.5534G>C | |
| 7 | g.148809376C>T | CA345005 | EZH2 | n.3944G>A c.*1106G>A (n.*1106G>A) c.*940G>A (n.*940G>A) n.3763G>A n.3877G>A n.2360G>A n.2422G>A c.2044G>A (p.Ala682Thr) c.1912G>A (p.Ala638Thr) c.2029G>A (p.Ala677Thr) c.1876G>A (p.Ala626Thr) c.2002G>A (p.Ala668Thr) c.*2034G>A (n.*2034G>A) c.2053G>A (p.Ala685Thr) c.2026G>A (p.Ala676Thr) c.1900G>A (p.Ala634Thr) c.2068G>A (p.Ala690Thr) c.2041G>A (p.Ala681Thr) c.2020G>A (p.Ala674Thr) c.2017G>A (p.Ala673Thr) c.1978G>A (p.Ala660Thr) c.1951G>A (p.Ala651Thr) c.1945G>A (p.Ala649Thr) c.1942G>A (p.Ala648Thr) c.1936G>A (p.Ala646Thr) c.1927G>A (p.Ala643Thr) c.1924G>A (p.Ala642Thr) c.1810G>A (p.Ala604Thr) c.1717G>A (p.Ala573Thr) n.515+4291C>T n.722+4291C>T c.2005G>A (p.Ala669Thr) c.1702G>A (p.Ala568Thr) c.1930G>A (p.Ala644Thr) n.4418G>A n.5074G>A n.5534G>A | ClinVar dbSNP gnomAD v4 |
| 7 | g.148809377A>C | CA369712359 | EZH2 | n.3943T>G c.*1105T>G (n.*1105T>G) c.*939T>G (n.*939T>G) n.3762T>G n.3876T>G n.2359T>G n.2421T>G c.2043T>G (p.Asp681Glu) c.1911T>G (p.Asp637Glu) c.2028T>G (p.Asp676Glu) c.1875T>G (p.Asp625Glu) c.2001T>G (p.Asp667Glu) c.*2033T>G (n.*2033T>G) c.2052T>G (p.Asp684Glu) c.2025T>G (p.Asp675Glu) c.1899T>G (p.Asp633Glu) c.2067T>G (p.Asp689Glu) c.2040T>G (p.Asp680Glu) c.2019T>G (p.Asp673Glu) c.2016T>G (p.Asp672Glu) c.1977T>G (p.Asp659Glu) c.1950T>G (p.Asp650Glu) c.1944T>G (p.Asp648Glu) c.1941T>G (p.Asp647Glu) c.1935T>G (p.Asp645Glu) c.1926T>G (p.Asp642Glu) c.1923T>G (p.Asp641Glu) c.1809T>G (p.Asp603Glu) c.1716T>G (p.Asp572Glu) n.515+4292A>C n.722+4292A>C c.2004T>G (p.Asp668Glu) c.1701T>G (p.Asp567Glu) c.1929T>G (p.Asp643Glu) n.4417T>G n.5073T>G n.5533T>G | |
| 7 | g.148809377A>G | CA458345745 | EZH2 | n.3943T>C c.*1105T>C (n.*1105T>C) c.*939T>C (n.*939T>C) n.3762T>C n.3876T>C n.2359T>C n.2421T>C c.2043T>C (p.Asp681=) c.1911T>C (p.Asp637=) c.2028T>C (p.Asp676=) c.1875T>C (p.Asp625=) c.2001T>C (p.Asp667=) c.*2033T>C (n.*2033T>C) c.2052T>C (p.Asp684=) c.2025T>C (p.Asp675=) c.1899T>C (p.Asp633=) c.2067T>C (p.Asp689=) c.2040T>C (p.Asp680=) c.2019T>C (p.Asp673=) c.2016T>C (p.Asp672=) c.1977T>C (p.Asp659=) c.1950T>C (p.Asp650=) c.1944T>C (p.Asp648=) c.1941T>C (p.Asp647=) c.1935T>C (p.Asp645=) c.1926T>C (p.Asp642=) c.1923T>C (p.Asp641=) c.1809T>C (p.Asp603=) c.1716T>C (p.Asp572=) n.515+4292A>G n.722+4292A>G c.2004T>C (p.Asp668=) c.1701T>C (p.Asp567=) c.1929T>C (p.Asp643=) n.4417T>C n.5073T>C n.5533T>C | |
| 7 | g.148809377A>T | CA369712357 | EZH2 | n.3943T>A c.*1105T>A (n.*1105T>A) c.*939T>A (n.*939T>A) n.3762T>A n.3876T>A n.2359T>A n.2421T>A c.2043T>A (p.Asp681Glu) c.1911T>A (p.Asp637Glu) c.2028T>A (p.Asp676Glu) c.1875T>A (p.Asp625Glu) c.2001T>A (p.Asp667Glu) c.*2033T>A (n.*2033T>A) c.2052T>A (p.Asp684Glu) c.2025T>A (p.Asp675Glu) c.1899T>A (p.Asp633Glu) c.2067T>A (p.Asp689Glu) c.2040T>A (p.Asp680Glu) c.2019T>A (p.Asp673Glu) c.2016T>A (p.Asp672Glu) c.1977T>A (p.Asp659Glu) c.1950T>A (p.Asp650Glu) c.1944T>A (p.Asp648Glu) c.1941T>A (p.Asp647Glu) c.1935T>A (p.Asp645Glu) c.1926T>A (p.Asp642Glu) c.1923T>A (p.Asp641Glu) c.1809T>A (p.Asp603Glu) c.1716T>A (p.Asp572Glu) n.515+4292A>T n.722+4292A>T c.2004T>A (p.Asp668Glu) c.1701T>A (p.Asp567Glu) c.1929T>A (p.Asp643Glu) n.4417T>A n.5073T>A n.5533T>A | |
| 7 | g.148809378T>A | CA369712361 | EZH2 | n.3942A>T c.*1104A>T (n.*1104A>T) c.*938A>T (n.*938A>T) n.3761A>T n.3875A>T n.2358A>T n.2420A>T c.2042A>T (p.Asp681Val) c.1910A>T (p.Asp637Val) c.2027A>T (p.Asp676Val) c.1874A>T (p.Asp625Val) c.2000A>T (p.Asp667Val) c.*2032A>T (n.*2032A>T) c.2051A>T (p.Asp684Val) c.2024A>T (p.Asp675Val) c.1898A>T (p.Asp633Val) c.2066A>T (p.Asp689Val) c.2039A>T (p.Asp680Val) c.2018A>T (p.Asp673Val) c.2015A>T (p.Asp672Val) c.1976A>T (p.Asp659Val) c.1949A>T (p.Asp650Val) c.1943A>T (p.Asp648Val) c.1940A>T (p.Asp647Val) c.1934A>T (p.Asp645Val) c.1925A>T (p.Asp642Val) c.1922A>T (p.Asp641Val) c.1808A>T (p.Asp603Val) c.1715A>T (p.Asp572Val) n.515+4293T>A n.722+4293T>A c.2003A>T (p.Asp668Val) c.1700A>T (p.Asp567Val) c.1928A>T (p.Asp643Val) n.4416A>T n.5072A>T n.5532A>T | |
| 7 | g.148809378T>C | CA369712362 | EZH2 | n.3942A>G c.*1104A>G (n.*1104A>G) c.*938A>G (n.*938A>G) n.3761A>G n.3875A>G n.2358A>G n.2420A>G c.2042A>G (p.Asp681Gly) c.1910A>G (p.Asp637Gly) c.2027A>G (p.Asp676Gly) c.1874A>G (p.Asp625Gly) c.2000A>G (p.Asp667Gly) c.*2032A>G (n.*2032A>G) c.2051A>G (p.Asp684Gly) c.2024A>G (p.Asp675Gly) c.1898A>G (p.Asp633Gly) c.2066A>G (p.Asp689Gly) c.2039A>G (p.Asp680Gly) c.2018A>G (p.Asp673Gly) c.2015A>G (p.Asp672Gly) c.1976A>G (p.Asp659Gly) c.1949A>G (p.Asp650Gly) c.1943A>G (p.Asp648Gly) c.1940A>G (p.Asp647Gly) c.1934A>G (p.Asp645Gly) c.1925A>G (p.Asp642Gly) c.1922A>G (p.Asp641Gly) c.1808A>G (p.Asp603Gly) c.1715A>G (p.Asp572Gly) n.515+4293T>C n.722+4293T>C c.2003A>G (p.Asp668Gly) c.1700A>G (p.Asp567Gly) c.1928A>G (p.Asp643Gly) n.4416A>G n.5072A>G n.5532A>G | |
| 7 | g.148809378T>G | CA369712363 | EZH2 | n.3942A>C c.*1104A>C (n.*1104A>C) c.*938A>C (n.*938A>C) n.3761A>C n.3875A>C n.2358A>C n.2420A>C c.2042A>C (p.Asp681Ala) c.1910A>C (p.Asp637Ala) c.2027A>C (p.Asp676Ala) c.1874A>C (p.Asp625Ala) c.2000A>C (p.Asp667Ala) c.*2032A>C (n.*2032A>C) c.2051A>C (p.Asp684Ala) c.2024A>C (p.Asp675Ala) c.1898A>C (p.Asp633Ala) c.2066A>C (p.Asp689Ala) c.2039A>C (p.Asp680Ala) c.2018A>C (p.Asp673Ala) c.2015A>C (p.Asp672Ala) c.1976A>C (p.Asp659Ala) c.1949A>C (p.Asp650Ala) c.1943A>C (p.Asp648Ala) c.1940A>C (p.Asp647Ala) c.1934A>C (p.Asp645Ala) c.1925A>C (p.Asp642Ala) c.1922A>C (p.Asp641Ala) c.1808A>C (p.Asp603Ala) c.1715A>C (p.Asp572Ala) n.515+4293T>G n.722+4293T>G c.2003A>C (p.Asp668Ala) c.1700A>C (p.Asp567Ala) c.1928A>C (p.Asp643Ala) n.4416A>C n.5072A>C n.5532A>C | |
| 7 | g.148809379C>A | CA369712365 | EZH2 | n.3941G>T c.*1103G>T (n.*1103G>T) c.*937G>T (n.*937G>T) n.3760G>T n.3874G>T n.2357G>T n.2419G>T c.2041G>T (p.Asp681Tyr) c.1909G>T (p.Asp637Tyr) c.2026G>T (p.Asp676Tyr) c.1873G>T (p.Asp625Tyr) c.1999G>T (p.Asp667Tyr) c.*2031G>T (n.*2031G>T) c.2050G>T (p.Asp684Tyr) c.2023G>T (p.Asp675Tyr) c.1897G>T (p.Asp633Tyr) c.2065G>T (p.Asp689Tyr) c.2038G>T (p.Asp680Tyr) c.2017G>T (p.Asp673Tyr) c.2014G>T (p.Asp672Tyr) c.1975G>T (p.Asp659Tyr) c.1948G>T (p.Asp650Tyr) c.1942G>T (p.Asp648Tyr) c.1939G>T (p.Asp647Tyr) c.1933G>T (p.Asp645Tyr) c.1924G>T (p.Asp642Tyr) c.1921G>T (p.Asp641Tyr) c.1807G>T (p.Asp603Tyr) c.1714G>T (p.Asp572Tyr) n.515+4294C>A n.722+4294C>A c.2002G>T (p.Asp668Tyr) c.1699G>T (p.Asp567Tyr) c.1927G>T (p.Asp643Tyr) n.4415G>T n.5071G>T n.5531G>T | |
| 7 | g.148809379C>G | CA369712366 | EZH2 | n.3941G>C c.*1103G>C (n.*1103G>C) c.*937G>C (n.*937G>C) n.3760G>C n.3874G>C n.2357G>C n.2419G>C c.2041G>C (p.Asp681His) c.1909G>C (p.Asp637His) c.2026G>C (p.Asp676His) c.1873G>C (p.Asp625His) c.1999G>C (p.Asp667His) c.*2031G>C (n.*2031G>C) c.2050G>C (p.Asp684His) c.2023G>C (p.Asp675His) c.1897G>C (p.Asp633His) c.2065G>C (p.Asp689His) c.2038G>C (p.Asp680His) c.2017G>C (p.Asp673His) c.2014G>C (p.Asp672His) c.1975G>C (p.Asp659His) c.1948G>C (p.Asp650His) c.1942G>C (p.Asp648His) c.1939G>C (p.Asp647His) c.1933G>C (p.Asp645His) c.1924G>C (p.Asp642His) c.1921G>C (p.Asp641His) c.1807G>C (p.Asp603His) c.1714G>C (p.Asp572His) n.515+4294C>G n.722+4294C>G c.2002G>C (p.Asp668His) c.1699G>C (p.Asp567His) c.1927G>C (p.Asp643His) n.4415G>C n.5071G>C n.5531G>C | |
| 7 | g.148809379C>T | CA369712368 | EZH2 | n.3941G>A c.*1103G>A (n.*1103G>A) c.*937G>A (n.*937G>A) n.3760G>A n.3874G>A n.2357G>A n.2419G>A c.2041G>A (p.Asp681Asn) c.1909G>A (p.Asp637Asn) c.2026G>A (p.Asp676Asn) c.1873G>A (p.Asp625Asn) c.1999G>A (p.Asp667Asn) c.*2031G>A (n.*2031G>A) c.2050G>A (p.Asp684Asn) c.2023G>A (p.Asp675Asn) c.1897G>A (p.Asp633Asn) c.2065G>A (p.Asp689Asn) c.2038G>A (p.Asp680Asn) c.2017G>A (p.Asp673Asn) c.2014G>A (p.Asp672Asn) c.1975G>A (p.Asp659Asn) c.1948G>A (p.Asp650Asn) c.1942G>A (p.Asp648Asn) c.1939G>A (p.Asp647Asn) c.1933G>A (p.Asp645Asn) c.1924G>A (p.Asp642Asn) c.1921G>A (p.Asp641Asn) c.1807G>A (p.Asp603Asn) c.1714G>A (p.Asp572Asn) n.515+4294C>T n.722+4294C>T c.2002G>A (p.Asp668Asn) c.1699G>A (p.Asp567Asn) c.1927G>A (p.Asp643Asn) n.4415G>A n.5071G>A n.5531G>A | |
| 7 | g.148809380C>A | CA458345746 | EZH2 | n.3940G>T c.*1102G>T (n.*1102G>T) c.*936G>T (n.*936G>T) n.3759G>T n.3873G>T n.2356G>T n.2418G>T c.2040G>T (p.Val680=) c.1908G>T (p.Val636=) c.2025G>T (p.Val675=) c.1872G>T (p.Val624=) c.1998G>T (p.Val666=) c.*2030G>T (n.*2030G>T) c.2049G>T (p.Val683=) c.2022G>T (p.Val674=) c.1896G>T (p.Val632=) c.2064G>T (p.Val688=) c.2037G>T (p.Val679=) c.2016G>T (p.Val672=) c.2013G>T (p.Val671=) c.1974G>T (p.Val658=) c.1947G>T (p.Val649=) c.1941G>T (p.Val647=) c.1938G>T (p.Val646=) c.1932G>T (p.Val644=) c.1923G>T (p.Val641=) c.1920G>T (p.Val640=) c.1806G>T (p.Val602=) c.1713G>T (p.Val571=) n.515+4295C>A n.722+4295C>A c.2001G>T (p.Val667=) c.1698G>T (p.Val566=) c.1926G>T (p.Val642=) n.4414G>T n.5070G>T n.5530G>T | |
| 7 | g.148809380C= | CA1751421497 | EZH2 | n.3940G= c.*1102G= (n.*1102G=) c.*936G= (n.*936G=) n.3759G= n.3873G= n.2356G= n.2418G= c.2040G= (p.Val680=) c.1908G= (p.Val636=) c.2025G= (p.Val675=) c.1872G= (p.Val624=) c.1998G= (p.Val666=) c.*2030G= (n.*2030G=) c.2049G= (p.Val683=) c.2022G= (p.Val674=) c.1896G= (p.Val632=) c.2064G= (p.Val688=) c.2037G= (p.Val679=) c.2016G= (p.Val672=) c.2013G= (p.Val671=) c.1974G= (p.Val658=) c.1947G= (p.Val649=) c.1941G= (p.Val647=) c.1938G= (p.Val646=) c.1932G= (p.Val644=) c.1923G= (p.Val641=) c.1920G= (p.Val640=) c.1806G= (p.Val602=) c.1713G= (p.Val571=) n.515+4295C= n.722+4295C= c.2001G= (p.Val667=) c.1698G= (p.Val566=) c.1926G= (p.Val642=) n.4414G= n.5070G= n.5530G= | |
| 7 | g.148809380C>G | CA458345747 | EZH2 | n.3940G>C c.*1102G>C (n.*1102G>C) c.*936G>C (n.*936G>C) n.3759G>C n.3873G>C n.2356G>C n.2418G>C c.2040G>C (p.Val680=) c.1908G>C (p.Val636=) c.2025G>C (p.Val675=) c.1872G>C (p.Val624=) c.1998G>C (p.Val666=) c.*2030G>C (n.*2030G>C) c.2049G>C (p.Val683=) c.2022G>C (p.Val674=) c.1896G>C (p.Val632=) c.2064G>C (p.Val688=) c.2037G>C (p.Val679=) c.2016G>C (p.Val672=) c.2013G>C (p.Val671=) c.1974G>C (p.Val658=) c.1947G>C (p.Val649=) c.1941G>C (p.Val647=) c.1938G>C (p.Val646=) c.1932G>C (p.Val644=) c.1923G>C (p.Val641=) c.1920G>C (p.Val640=) c.1806G>C (p.Val602=) c.1713G>C (p.Val571=) n.515+4295C>G n.722+4295C>G c.2001G>C (p.Val667=) c.1698G>C (p.Val566=) c.1926G>C (p.Val642=) n.4414G>C n.5070G>C n.5530G>C | |
| 7 | g.148809380C>T | CA4547714 | EZH2 | n.3940G>A c.*1102G>A (n.*1102G>A) c.*936G>A (n.*936G>A) n.3759G>A n.3873G>A n.2356G>A n.2418G>A c.2040G>A (p.Val680=) c.1908G>A (p.Val636=) c.2025G>A (p.Val675=) c.1872G>A (p.Val624=) c.1998G>A (p.Val666=) c.*2030G>A (n.*2030G>A) c.2049G>A (p.Val683=) c.2022G>A (p.Val674=) c.1896G>A (p.Val632=) c.2064G>A (p.Val688=) c.2037G>A (p.Val679=) c.2016G>A (p.Val672=) c.2013G>A (p.Val671=) c.1974G>A (p.Val658=) c.1947G>A (p.Val649=) c.1941G>A (p.Val647=) c.1938G>A (p.Val646=) c.1932G>A (p.Val644=) c.1923G>A (p.Val641=) c.1920G>A (p.Val640=) c.1806G>A (p.Val602=) c.1713G>A (p.Val571=) n.515+4295C>T n.722+4295C>T c.2001G>A (p.Val667=) c.1698G>A (p.Val566=) c.1926G>A (p.Val642=) n.4414G>A n.5070G>A n.5530G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.148809381A>C | CA369712371 | EZH2 | n.3939T>G c.*1101T>G (n.*1101T>G) c.*935T>G (n.*935T>G) n.3758T>G n.3872T>G n.2355T>G n.2417T>G c.2039T>G (p.Val680Gly) c.1907T>G (p.Val636Gly) c.2024T>G (p.Val675Gly) c.1871T>G (p.Val624Gly) c.1997T>G (p.Val666Gly) c.*2029T>G (n.*2029T>G) c.2048T>G (p.Val683Gly) c.2021T>G (p.Val674Gly) c.1895T>G (p.Val632Gly) c.2063T>G (p.Val688Gly) c.2036T>G (p.Val679Gly) c.2015T>G (p.Val672Gly) c.2012T>G (p.Val671Gly) c.1973T>G (p.Val658Gly) c.1946T>G (p.Val649Gly) c.1940T>G (p.Val647Gly) c.1937T>G (p.Val646Gly) c.1931T>G (p.Val644Gly) c.1922T>G (p.Val641Gly) c.1919T>G (p.Val640Gly) c.1805T>G (p.Val602Gly) c.1712T>G (p.Val571Gly) n.515+4296A>C n.722+4296A>C c.2000T>G (p.Val667Gly) c.1697T>G (p.Val566Gly) c.1925T>G (p.Val642Gly) n.4413T>G n.5069T>G n.5529T>G | |
| 7 | g.148809381A>G | CA369712373 | EZH2 | n.3939T>C c.*1101T>C (n.*1101T>C) c.*935T>C (n.*935T>C) n.3758T>C n.3872T>C n.2355T>C n.2417T>C c.2039T>C (p.Val680Ala) c.1907T>C (p.Val636Ala) c.2024T>C (p.Val675Ala) c.1871T>C (p.Val624Ala) c.1997T>C (p.Val666Ala) c.*2029T>C (n.*2029T>C) c.2048T>C (p.Val683Ala) c.2021T>C (p.Val674Ala) c.1895T>C (p.Val632Ala) c.2063T>C (p.Val688Ala) c.2036T>C (p.Val679Ala) c.2015T>C (p.Val672Ala) c.2012T>C (p.Val671Ala) c.1973T>C (p.Val658Ala) c.1946T>C (p.Val649Ala) c.1940T>C (p.Val647Ala) c.1937T>C (p.Val646Ala) c.1931T>C (p.Val644Ala) c.1922T>C (p.Val641Ala) c.1919T>C (p.Val640Ala) c.1805T>C (p.Val602Ala) c.1712T>C (p.Val571Ala) n.515+4296A>G n.722+4296A>G c.2000T>C (p.Val667Ala) c.1697T>C (p.Val566Ala) c.1925T>C (p.Val642Ala) n.4413T>C n.5069T>C n.5529T>C | ClinVar |
| 7 | g.148809381A>T | CA369712370 | EZH2 | n.3939T>A c.*1101T>A (n.*1101T>A) c.*935T>A (n.*935T>A) n.3758T>A n.3872T>A n.2355T>A n.2417T>A c.2039T>A (p.Val680Glu) c.1907T>A (p.Val636Glu) c.2024T>A (p.Val675Glu) c.1871T>A (p.Val624Glu) c.1997T>A (p.Val666Glu) c.*2029T>A (n.*2029T>A) c.2048T>A (p.Val683Glu) c.2021T>A (p.Val674Glu) c.1895T>A (p.Val632Glu) c.2063T>A (p.Val688Glu) c.2036T>A (p.Val679Glu) c.2015T>A (p.Val672Glu) c.2012T>A (p.Val671Glu) c.1973T>A (p.Val658Glu) c.1946T>A (p.Val649Glu) c.1940T>A (p.Val647Glu) c.1937T>A (p.Val646Glu) c.1931T>A (p.Val644Glu) c.1922T>A (p.Val641Glu) c.1919T>A (p.Val640Glu) c.1805T>A (p.Val602Glu) c.1712T>A (p.Val571Glu) n.515+4296A>T n.722+4296A>T c.2000T>A (p.Val667Glu) c.1697T>A (p.Val566Glu) c.1925T>A (p.Val642Glu) n.4413T>A n.5069T>A n.5529T>A | |
| 7 | g.148809382C>A | CA369712376 | EZH2 | n.3938G>T c.*1100G>T (n.*1100G>T) c.*934G>T (n.*934G>T) n.3757G>T n.3871G>T n.2354G>T n.2416G>T c.2038G>T (p.Val680Leu) c.1906G>T (p.Val636Leu) c.2023G>T (p.Val675Leu) c.1870G>T (p.Val624Leu) c.1996G>T (p.Val666Leu) c.*2028G>T (n.*2028G>T) c.2047G>T (p.Val683Leu) c.2020G>T (p.Val674Leu) c.1894G>T (p.Val632Leu) c.2062G>T (p.Val688Leu) c.2035G>T (p.Val679Leu) c.2014G>T (p.Val672Leu) c.2011G>T (p.Val671Leu) c.1972G>T (p.Val658Leu) c.1945G>T (p.Val649Leu) c.1939G>T (p.Val647Leu) c.1936G>T (p.Val646Leu) c.1930G>T (p.Val644Leu) c.1921G>T (p.Val641Leu) c.1918G>T (p.Val640Leu) c.1804G>T (p.Val602Leu) c.1711G>T (p.Val571Leu) n.515+4297C>A n.722+4297C>A c.1999G>T (p.Val667Leu) c.1696G>T (p.Val566Leu) c.1924G>T (p.Val642Leu) n.4412G>T n.5068G>T n.5528G>T | gnomAD v4 |
| 7 | g.148809382C>G | CA369712375 | EZH2 | n.3938G>C c.*1100G>C (n.*1100G>C) c.*934G>C (n.*934G>C) n.3757G>C n.3871G>C n.2354G>C n.2416G>C c.2038G>C (p.Val680Leu) c.1906G>C (p.Val636Leu) c.2023G>C (p.Val675Leu) c.1870G>C (p.Val624Leu) c.1996G>C (p.Val666Leu) c.*2028G>C (n.*2028G>C) c.2047G>C (p.Val683Leu) c.2020G>C (p.Val674Leu) c.1894G>C (p.Val632Leu) c.2062G>C (p.Val688Leu) c.2035G>C (p.Val679Leu) c.2014G>C (p.Val672Leu) c.2011G>C (p.Val671Leu) c.1972G>C (p.Val658Leu) c.1945G>C (p.Val649Leu) c.1939G>C (p.Val647Leu) c.1936G>C (p.Val646Leu) c.1930G>C (p.Val644Leu) c.1921G>C (p.Val641Leu) c.1918G>C (p.Val640Leu) c.1804G>C (p.Val602Leu) c.1711G>C (p.Val571Leu) n.515+4297C>G n.722+4297C>G c.1999G>C (p.Val667Leu) c.1696G>C (p.Val566Leu) c.1924G>C (p.Val642Leu) n.4412G>C n.5068G>C n.5528G>C | |
| 7 | g.148809382C>T | CA369712377 | EZH2 | n.3938G>A c.*1100G>A (n.*1100G>A) c.*934G>A (n.*934G>A) n.3757G>A n.3871G>A n.2354G>A n.2416G>A c.2038G>A (p.Val680Met) c.1906G>A (p.Val636Met) c.2023G>A (p.Val675Met) c.1870G>A (p.Val624Met) c.1996G>A (p.Val666Met) c.*2028G>A (n.*2028G>A) c.2047G>A (p.Val683Met) c.2020G>A (p.Val674Met) c.1894G>A (p.Val632Met) c.2062G>A (p.Val688Met) c.2035G>A (p.Val679Met) c.2014G>A (p.Val672Met) c.2011G>A (p.Val671Met) c.1972G>A (p.Val658Met) c.1945G>A (p.Val649Met) c.1939G>A (p.Val647Met) c.1936G>A (p.Val646Met) c.1930G>A (p.Val644Met) c.1921G>A (p.Val641Met) c.1918G>A (p.Val640Met) c.1804G>A (p.Val602Met) c.1711G>A (p.Val571Met) n.515+4297C>T n.722+4297C>T c.1999G>A (p.Val667Met) c.1696G>A (p.Val566Met) c.1924G>A (p.Val642Met) n.4412G>A n.5068G>A n.5528G>A | COSMIC COSMIC |
| 7 | g.148809383C>A | CA458345751 | EZH2 | n.3937G>T c.*1099G>T (n.*1099G>T) c.*933G>T (n.*933G>T) n.3756G>T n.3870G>T n.2353G>T n.2415G>T c.2037G>T (p.Val679=) c.1905G>T (p.Val635=) c.2022G>T (p.Val674=) c.1869G>T (p.Val623=) c.1995G>T (p.Val665=) c.*2027G>T (n.*2027G>T) c.2046G>T (p.Val682=) c.2019G>T (p.Val673=) c.1893G>T (p.Val631=) c.2061G>T (p.Val687=) c.2034G>T (p.Val678=) c.2013G>T (p.Val671=) c.2010G>T (p.Val670=) c.1971G>T (p.Val657=) c.1944G>T (p.Val648=) c.1938G>T (p.Val646=) c.1935G>T (p.Val645=) c.1929G>T (p.Val643=) c.1920G>T (p.Val640=) c.1917G>T (p.Val639=) c.1803G>T (p.Val601=) c.1710G>T (p.Val570=) n.515+4298C>A n.722+4298C>A c.1998G>T (p.Val666=) c.1695G>T (p.Val565=) c.1923G>T (p.Val641=) n.4411G>T n.5067G>T n.5527G>T | |
| 7 | g.148809383C>G | CA458345753 | EZH2 | n.3937G>C c.*1099G>C (n.*1099G>C) c.*933G>C (n.*933G>C) n.3756G>C n.3870G>C n.2353G>C n.2415G>C c.2037G>C (p.Val679=) c.1905G>C (p.Val635=) c.2022G>C (p.Val674=) c.1869G>C (p.Val623=) c.1995G>C (p.Val665=) c.*2027G>C (n.*2027G>C) c.2046G>C (p.Val682=) c.2019G>C (p.Val673=) c.1893G>C (p.Val631=) c.2061G>C (p.Val687=) c.2034G>C (p.Val678=) c.2013G>C (p.Val671=) c.2010G>C (p.Val670=) c.1971G>C (p.Val657=) c.1944G>C (p.Val648=) c.1938G>C (p.Val646=) c.1935G>C (p.Val645=) c.1929G>C (p.Val643=) c.1920G>C (p.Val640=) c.1917G>C (p.Val639=) c.1803G>C (p.Val601=) c.1710G>C (p.Val570=) n.515+4298C>G n.722+4298C>G c.1998G>C (p.Val666=) c.1695G>C (p.Val565=) c.1923G>C (p.Val641=) n.4411G>C n.5067G>C n.5527G>C | |
| 7 | g.148809383C>T | CA458345754 | EZH2 | n.3937G>A c.*1099G>A (n.*1099G>A) c.*933G>A (n.*933G>A) n.3756G>A n.3870G>A n.2353G>A n.2415G>A c.2037G>A (p.Val679=) c.1905G>A (p.Val635=) c.2022G>A (p.Val674=) c.1869G>A (p.Val623=) c.1995G>A (p.Val665=) c.*2027G>A (n.*2027G>A) c.2046G>A (p.Val682=) c.2019G>A (p.Val673=) c.1893G>A (p.Val631=) c.2061G>A (p.Val687=) c.2034G>A (p.Val678=) c.2013G>A (p.Val671=) c.2010G>A (p.Val670=) c.1971G>A (p.Val657=) c.1944G>A (p.Val648=) c.1938G>A (p.Val646=) c.1935G>A (p.Val645=) c.1929G>A (p.Val643=) c.1920G>A (p.Val640=) c.1917G>A (p.Val639=) c.1803G>A (p.Val601=) c.1710G>A (p.Val570=) n.515+4298C>T n.722+4298C>T c.1998G>A (p.Val666=) c.1695G>A (p.Val565=) c.1923G>A (p.Val641=) n.4411G>A n.5067G>A n.5527G>A | |
| 7 | g.148809384A>C | CA369712379 | EZH2 | n.3936T>G c.*1098T>G (n.*1098T>G) c.*932T>G (n.*932T>G) n.3755T>G n.3869T>G n.2352T>G n.2414T>G c.2036T>G (p.Val679Gly) c.1904T>G (p.Val635Gly) c.2021T>G (p.Val674Gly) c.1868T>G (p.Val623Gly) c.1994T>G (p.Val665Gly) c.*2026T>G (n.*2026T>G) c.2045T>G (p.Val682Gly) c.2018T>G (p.Val673Gly) c.1892T>G (p.Val631Gly) c.2060T>G (p.Val687Gly) c.2033T>G (p.Val678Gly) c.2012T>G (p.Val671Gly) c.2009T>G (p.Val670Gly) c.1970T>G (p.Val657Gly) c.1943T>G (p.Val648Gly) c.1937T>G (p.Val646Gly) c.1934T>G (p.Val645Gly) c.1928T>G (p.Val643Gly) c.1919T>G (p.Val640Gly) c.1916T>G (p.Val639Gly) c.1802T>G (p.Val601Gly) c.1709T>G (p.Val570Gly) n.515+4299A>C n.722+4299A>C c.1997T>G (p.Val666Gly) c.1694T>G (p.Val565Gly) c.1922T>G (p.Val641Gly) n.4410T>G n.5066T>G n.5526T>G | |
| 7 | g.148809384A>G | CA369712381 | EZH2 | n.3936T>C c.*1098T>C (n.*1098T>C) c.*932T>C (n.*932T>C) n.3755T>C n.3869T>C n.2352T>C n.2414T>C c.2036T>C (p.Val679Ala) c.1904T>C (p.Val635Ala) c.2021T>C (p.Val674Ala) c.1868T>C (p.Val623Ala) c.1994T>C (p.Val665Ala) c.*2026T>C (n.*2026T>C) c.2045T>C (p.Val682Ala) c.2018T>C (p.Val673Ala) c.1892T>C (p.Val631Ala) c.2060T>C (p.Val687Ala) c.2033T>C (p.Val678Ala) c.2012T>C (p.Val671Ala) c.2009T>C (p.Val670Ala) c.1970T>C (p.Val657Ala) c.1943T>C (p.Val648Ala) c.1937T>C (p.Val646Ala) c.1934T>C (p.Val645Ala) c.1928T>C (p.Val643Ala) c.1919T>C (p.Val640Ala) c.1916T>C (p.Val639Ala) c.1802T>C (p.Val601Ala) c.1709T>C (p.Val570Ala) n.515+4299A>G n.722+4299A>G c.1997T>C (p.Val666Ala) c.1694T>C (p.Val565Ala) c.1922T>C (p.Val641Ala) n.4410T>C n.5066T>C n.5526T>C | |
| 7 | g.148809384A>T | CA369712380 | EZH2 | n.3936T>A c.*1098T>A (n.*1098T>A) c.*932T>A (n.*932T>A) n.3755T>A n.3869T>A n.2352T>A n.2414T>A c.2036T>A (p.Val679Glu) c.1904T>A (p.Val635Glu) c.2021T>A (p.Val674Glu) c.1868T>A (p.Val623Glu) c.1994T>A (p.Val665Glu) c.*2026T>A (n.*2026T>A) c.2045T>A (p.Val682Glu) c.2018T>A (p.Val673Glu) c.1892T>A (p.Val631Glu) c.2060T>A (p.Val687Glu) c.2033T>A (p.Val678Glu) c.2012T>A (p.Val671Glu) c.2009T>A (p.Val670Glu) c.1970T>A (p.Val657Glu) c.1943T>A (p.Val648Glu) c.1937T>A (p.Val646Glu) c.1934T>A (p.Val645Glu) c.1928T>A (p.Val643Glu) c.1919T>A (p.Val640Glu) c.1916T>A (p.Val639Glu) c.1802T>A (p.Val601Glu) c.1709T>A (p.Val570Glu) n.515+4299A>T n.722+4299A>T c.1997T>A (p.Val666Glu) c.1694T>A (p.Val565Glu) c.1922T>A (p.Val641Glu) n.4410T>A n.5066T>A n.5526T>A | |
| 7 | g.148809385C>A | CA369712382 | EZH2 | n.3935G>T c.*1097G>T (n.*1097G>T) c.*931G>T (n.*931G>T) n.3754G>T n.3868G>T n.2351G>T n.2413G>T c.2035G>T (p.Val679Leu) c.1903G>T (p.Val635Leu) c.2020G>T (p.Val674Leu) c.1867G>T (p.Val623Leu) c.1993G>T (p.Val665Leu) c.*2025G>T (n.*2025G>T) c.2044G>T (p.Val682Leu) c.2017G>T (p.Val673Leu) c.1891G>T (p.Val631Leu) c.2059G>T (p.Val687Leu) c.2032G>T (p.Val678Leu) c.2011G>T (p.Val671Leu) c.2008G>T (p.Val670Leu) c.1969G>T (p.Val657Leu) c.1942G>T (p.Val648Leu) c.1936G>T (p.Val646Leu) c.1933G>T (p.Val645Leu) c.1927G>T (p.Val643Leu) c.1918G>T (p.Val640Leu) c.1915G>T (p.Val639Leu) c.1801G>T (p.Val601Leu) c.1708G>T (p.Val570Leu) n.515+4300C>A n.722+4300C>A c.1996G>T (p.Val666Leu) c.1693G>T (p.Val565Leu) c.1921G>T (p.Val641Leu) n.4409G>T n.5065G>T n.5525G>T | |
| 7 | g.148809385C= | CA1751421502 | EZH2 | n.3935G= c.*1097G= (n.*1097G=) c.*931G= (n.*931G=) n.3754G= n.3868G= n.2351G= n.2413G= c.2035G= (p.Val679=) c.1903G= (p.Val635=) c.2020G= (p.Val674=) c.1867G= (p.Val623=) c.1993G= (p.Val665=) c.*2025G= (n.*2025G=) c.2044G= (p.Val682=) c.2017G= (p.Val673=) c.1891G= (p.Val631=) c.2059G= (p.Val687=) c.2032G= (p.Val678=) c.2011G= (p.Val671=) c.2008G= (p.Val670=) c.1969G= (p.Val657=) c.1942G= (p.Val648=) c.1936G= (p.Val646=) c.1933G= (p.Val645=) c.1927G= (p.Val643=) c.1918G= (p.Val640=) c.1915G= (p.Val639=) c.1801G= (p.Val601=) c.1708G= (p.Val570=) n.515+4300C= n.722+4300C= c.1996G= (p.Val666=) c.1693G= (p.Val565=) c.1921G= (p.Val641=) n.4409G= n.5065G= n.5525G= | |
| 7 | g.148809385C>G | CA369712384 | EZH2 | n.3935G>C c.*1097G>C (n.*1097G>C) c.*931G>C (n.*931G>C) n.3754G>C n.3868G>C n.2351G>C n.2413G>C c.2035G>C (p.Val679Leu) c.1903G>C (p.Val635Leu) c.2020G>C (p.Val674Leu) c.1867G>C (p.Val623Leu) c.1993G>C (p.Val665Leu) c.*2025G>C (n.*2025G>C) c.2044G>C (p.Val682Leu) c.2017G>C (p.Val673Leu) c.1891G>C (p.Val631Leu) c.2059G>C (p.Val687Leu) c.2032G>C (p.Val678Leu) c.2011G>C (p.Val671Leu) c.2008G>C (p.Val670Leu) c.1969G>C (p.Val657Leu) c.1942G>C (p.Val648Leu) c.1936G>C (p.Val646Leu) c.1933G>C (p.Val645Leu) c.1927G>C (p.Val643Leu) c.1918G>C (p.Val640Leu) c.1915G>C (p.Val639Leu) c.1801G>C (p.Val601Leu) c.1708G>C (p.Val570Leu) n.515+4300C>G n.722+4300C>G c.1996G>C (p.Val666Leu) c.1693G>C (p.Val565Leu) c.1921G>C (p.Val641Leu) n.4409G>C n.5065G>C n.5525G>C | |
| 7 | g.148809385C>T | CA369712383 | EZH2 | n.3935G>A c.*1097G>A (n.*1097G>A) c.*931G>A (n.*931G>A) n.3754G>A n.3868G>A n.2351G>A n.2413G>A c.2035G>A (p.Val679Met) c.1903G>A (p.Val635Met) c.2020G>A (p.Val674Met) c.1867G>A (p.Val623Met) c.1993G>A (p.Val665Met) c.*2025G>A (n.*2025G>A) c.2044G>A (p.Val682Met) c.2017G>A (p.Val673Met) c.1891G>A (p.Val631Met) c.2059G>A (p.Val687Met) c.2032G>A (p.Val678Met) c.2011G>A (p.Val671Met) c.2008G>A (p.Val670Met) c.1969G>A (p.Val657Met) c.1942G>A (p.Val648Met) c.1936G>A (p.Val646Met) c.1933G>A (p.Val645Met) c.1927G>A (p.Val643Met) c.1918G>A (p.Val640Met) c.1915G>A (p.Val639Met) c.1801G>A (p.Val601Met) c.1708G>A (p.Val570Met) n.515+4300C>T n.722+4300C>T c.1996G>A (p.Val666Met) c.1693G>A (p.Val565Met) c.1921G>A (p.Val641Met) n.4409G>A n.5065G>A n.5525G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 7 | g.148809386A= | CA1751421505 | EZH2 | n.3934T= c.*1096T= (n.*1096T=) c.*930T= (n.*930T=) n.3753T= n.3867T= n.2350T= n.2412T= c.2034T= (p.Phe678=) c.1902T= (p.Phe634=) c.2019T= (p.Phe673=) c.1866T= (p.Phe622=) c.1992T= (p.Phe664=) c.*2024T= (n.*2024T=) c.2043T= (p.Phe681=) c.2016T= (p.Phe672=) c.1890T= (p.Phe630=) c.2058T= (p.Phe686=) c.2031T= (p.Phe677=) c.2010T= (p.Phe670=) c.2007T= (p.Phe669=) c.1968T= (p.Phe656=) c.1941T= (p.Phe647=) c.1935T= (p.Phe645=) c.1932T= (p.Phe644=) c.1926T= (p.Phe642=) c.1917T= (p.Phe639=) c.1914T= (p.Phe638=) c.1800T= (p.Phe600=) c.1707T= (p.Phe569=) n.515+4301A= n.722+4301A= c.1995T= (p.Phe665=) c.1692T= (p.Phe564=) c.1920T= (p.Phe640=) n.4408T= n.5064T= n.5524T= | |
| 7 | g.148809386A>C | CA369712386 | EZH2 | n.3934T>G c.*1096T>G (n.*1096T>G) c.*930T>G (n.*930T>G) n.3753T>G n.3867T>G n.2350T>G n.2412T>G c.2034T>G (p.Phe678Leu) c.1902T>G (p.Phe634Leu) c.2019T>G (p.Phe673Leu) c.1866T>G (p.Phe622Leu) c.1992T>G (p.Phe664Leu) c.*2024T>G (n.*2024T>G) c.2043T>G (p.Phe681Leu) c.2016T>G (p.Phe672Leu) c.1890T>G (p.Phe630Leu) c.2058T>G (p.Phe686Leu) c.2031T>G (p.Phe677Leu) c.2010T>G (p.Phe670Leu) c.2007T>G (p.Phe669Leu) c.1968T>G (p.Phe656Leu) c.1941T>G (p.Phe647Leu) c.1935T>G (p.Phe645Leu) c.1932T>G (p.Phe644Leu) c.1926T>G (p.Phe642Leu) c.1917T>G (p.Phe639Leu) c.1914T>G (p.Phe638Leu) c.1800T>G (p.Phe600Leu) c.1707T>G (p.Phe569Leu) n.515+4301A>C n.722+4301A>C c.1995T>G (p.Phe665Leu) c.1692T>G (p.Phe564Leu) c.1920T>G (p.Phe640Leu) n.4408T>G n.5064T>G n.5524T>G | |
| 7 | g.148809386A>G | CA458345755 | EZH2 | n.3934T>C c.*1096T>C (n.*1096T>C) c.*930T>C (n.*930T>C) n.3753T>C n.3867T>C n.2350T>C n.2412T>C c.2034T>C (p.Phe678=) c.1902T>C (p.Phe634=) c.2019T>C (p.Phe673=) c.1866T>C (p.Phe622=) c.1992T>C (p.Phe664=) c.*2024T>C (n.*2024T>C) c.2043T>C (p.Phe681=) c.2016T>C (p.Phe672=) c.1890T>C (p.Phe630=) c.2058T>C (p.Phe686=) c.2031T>C (p.Phe677=) c.2010T>C (p.Phe670=) c.2007T>C (p.Phe669=) c.1968T>C (p.Phe656=) c.1941T>C (p.Phe647=) c.1935T>C (p.Phe645=) c.1932T>C (p.Phe644=) c.1926T>C (p.Phe642=) c.1917T>C (p.Phe639=) c.1914T>C (p.Phe638=) c.1800T>C (p.Phe600=) c.1707T>C (p.Phe569=) n.515+4301A>G n.722+4301A>G c.1995T>C (p.Phe665=) c.1692T>C (p.Phe564=) c.1920T>C (p.Phe640=) n.4408T>C n.5064T>C n.5524T>C | dbSNP |
| 7 | g.148809386A>T | CA369712388 | EZH2 | n.3934T>A c.*1096T>A (n.*1096T>A) c.*930T>A (n.*930T>A) n.3753T>A n.3867T>A n.2350T>A n.2412T>A c.2034T>A (p.Phe678Leu) c.1902T>A (p.Phe634Leu) c.2019T>A (p.Phe673Leu) c.1866T>A (p.Phe622Leu) c.1992T>A (p.Phe664Leu) c.*2024T>A (n.*2024T>A) c.2043T>A (p.Phe681Leu) c.2016T>A (p.Phe672Leu) c.1890T>A (p.Phe630Leu) c.2058T>A (p.Phe686Leu) c.2031T>A (p.Phe677Leu) c.2010T>A (p.Phe670Leu) c.2007T>A (p.Phe669Leu) c.1968T>A (p.Phe656Leu) c.1941T>A (p.Phe647Leu) c.1935T>A (p.Phe645Leu) c.1932T>A (p.Phe644Leu) c.1926T>A (p.Phe642Leu) c.1917T>A (p.Phe639Leu) c.1914T>A (p.Phe638Leu) c.1800T>A (p.Phe600Leu) c.1707T>A (p.Phe569Leu) n.515+4301A>T n.722+4301A>T c.1995T>A (p.Phe665Leu) c.1692T>A (p.Phe564Leu) c.1920T>A (p.Phe640Leu) n.4408T>A n.5064T>A n.5524T>A | |
| 7 | g.148809389del | CA2685464612 | EZH2 | n.3934del c.*1096del (n.*1096del) c.*930del (n.*930del) n.3753del n.3867del n.2350del n.2412del c.2034del (p.Phe678LeufsTer19) c.1902del (p.Phe634LeufsTer19) c.2019del (p.Phe673LeufsTer19) c.1866del (p.Phe622LeufsTer19) c.1992del (p.Phe664LeufsTer19) c.*2024del (n.*2024del) c.2043del (p.Phe681LeufsTer19) c.2016del (p.Phe672LeufsTer19) c.1890del (p.Phe630LeufsTer19) c.2058del (p.Phe686LeufsTer19) c.2031del (p.Phe677LeufsTer19) c.2010del (p.Phe670LeufsTer19) c.2007del (p.Phe669LeufsTer19) c.1968del (p.Phe656LeufsTer19) c.1941del (p.Phe647LeufsTer19) c.1935del (p.Phe645LeufsTer19) c.1932del (p.Phe644LeufsTer19) c.1926del (p.Phe642LeufsTer19) c.1917del (p.Phe639LeufsTer19) c.1914del (p.Phe638LeufsTer19) c.1800del (p.Phe600LeufsTer19) c.1707del (p.Phe569LeufsTer19) n.515+4304del n.722+4304del c.1995del (p.Phe665LeufsTer19) c.1692del (p.Phe564LeufsTer19) c.1920del (p.Phe640LeufsTer19) n.4408del n.5064del n.5524del | gnomAD v4 |
| 7 | g.148809387A>C | CA369712389 | EZH2 | n.3933T>G c.*1095T>G (n.*1095T>G) c.*929T>G (n.*929T>G) n.3752T>G n.3866T>G n.2349T>G n.2411T>G c.2033T>G (p.Phe678Cys) c.1901T>G (p.Phe634Cys) c.2018T>G (p.Phe673Cys) c.1865T>G (p.Phe622Cys) c.1991T>G (p.Phe664Cys) c.*2023T>G (n.*2023T>G) c.2042T>G (p.Phe681Cys) c.2015T>G (p.Phe672Cys) c.1889T>G (p.Phe630Cys) c.2057T>G (p.Phe686Cys) c.2030T>G (p.Phe677Cys) c.2009T>G (p.Phe670Cys) c.2006T>G (p.Phe669Cys) c.1967T>G (p.Phe656Cys) c.1940T>G (p.Phe647Cys) c.1934T>G (p.Phe645Cys) c.1931T>G (p.Phe644Cys) c.1925T>G (p.Phe642Cys) c.1916T>G (p.Phe639Cys) c.1913T>G (p.Phe638Cys) c.1799T>G (p.Phe600Cys) c.1706T>G (p.Phe569Cys) n.515+4302A>C n.722+4302A>C c.1994T>G (p.Phe665Cys) c.1691T>G (p.Phe564Cys) c.1919T>G (p.Phe640Cys) n.4407T>G n.5063T>G n.5523T>G | COSMIC COSMIC |
| 7 | g.148809387A>G | CA369712390 | EZH2 | n.3933T>C c.*1095T>C (n.*1095T>C) c.*929T>C (n.*929T>C) n.3752T>C n.3866T>C n.2349T>C n.2411T>C c.2033T>C (p.Phe678Ser) c.1901T>C (p.Phe634Ser) c.2018T>C (p.Phe673Ser) c.1865T>C (p.Phe622Ser) c.1991T>C (p.Phe664Ser) c.*2023T>C (n.*2023T>C) c.2042T>C (p.Phe681Ser) c.2015T>C (p.Phe672Ser) c.1889T>C (p.Phe630Ser) c.2057T>C (p.Phe686Ser) c.2030T>C (p.Phe677Ser) c.2009T>C (p.Phe670Ser) c.2006T>C (p.Phe669Ser) c.1967T>C (p.Phe656Ser) c.1940T>C (p.Phe647Ser) c.1934T>C (p.Phe645Ser) c.1931T>C (p.Phe644Ser) c.1925T>C (p.Phe642Ser) c.1916T>C (p.Phe639Ser) c.1913T>C (p.Phe638Ser) c.1799T>C (p.Phe600Ser) c.1706T>C (p.Phe569Ser) n.515+4302A>G n.722+4302A>G c.1994T>C (p.Phe665Ser) c.1691T>C (p.Phe564Ser) c.1919T>C (p.Phe640Ser) n.4407T>C n.5063T>C n.5523T>C | gnomAD v4 |
| 7 | g.148809387A>T | CA369712391 | EZH2 | n.3933T>A c.*1095T>A (n.*1095T>A) c.*929T>A (n.*929T>A) n.3752T>A n.3866T>A n.2349T>A n.2411T>A c.2033T>A (p.Phe678Tyr) c.1901T>A (p.Phe634Tyr) c.2018T>A (p.Phe673Tyr) c.1865T>A (p.Phe622Tyr) c.1991T>A (p.Phe664Tyr) c.*2023T>A (n.*2023T>A) c.2042T>A (p.Phe681Tyr) c.2015T>A (p.Phe672Tyr) c.1889T>A (p.Phe630Tyr) c.2057T>A (p.Phe686Tyr) c.2030T>A (p.Phe677Tyr) c.2009T>A (p.Phe670Tyr) c.2006T>A (p.Phe669Tyr) c.1967T>A (p.Phe656Tyr) c.1940T>A (p.Phe647Tyr) c.1934T>A (p.Phe645Tyr) c.1931T>A (p.Phe644Tyr) c.1925T>A (p.Phe642Tyr) c.1916T>A (p.Phe639Tyr) c.1913T>A (p.Phe638Tyr) c.1799T>A (p.Phe600Tyr) c.1706T>A (p.Phe569Tyr) n.515+4302A>T n.722+4302A>T c.1994T>A (p.Phe665Tyr) c.1691T>A (p.Phe564Tyr) c.1919T>A (p.Phe640Tyr) n.4407T>A n.5063T>A n.5523T>A | |
| 7 | g.148809388A>C | CA369712393 | EZH2 | n.3932T>G c.*1094T>G (n.*1094T>G) c.*928T>G (n.*928T>G) n.3751T>G n.3865T>G n.2348T>G n.2410T>G c.2032T>G (p.Phe678Val) c.1900T>G (p.Phe634Val) c.2017T>G (p.Phe673Val) c.1864T>G (p.Phe622Val) c.1990T>G (p.Phe664Val) c.*2022T>G (n.*2022T>G) c.2041T>G (p.Phe681Val) c.2014T>G (p.Phe672Val) c.1888T>G (p.Phe630Val) c.2056T>G (p.Phe686Val) c.2029T>G (p.Phe677Val) c.2008T>G (p.Phe670Val) c.2005T>G (p.Phe669Val) c.1966T>G (p.Phe656Val) c.1939T>G (p.Phe647Val) c.1933T>G (p.Phe645Val) c.1930T>G (p.Phe644Val) c.1924T>G (p.Phe642Val) c.1915T>G (p.Phe639Val) c.1912T>G (p.Phe638Val) c.1798T>G (p.Phe600Val) c.1705T>G (p.Phe569Val) n.515+4303A>C n.722+4303A>C c.1993T>G (p.Phe665Val) c.1690T>G (p.Phe564Val) c.1918T>G (p.Phe640Val) n.4406T>G n.5062T>G n.5522T>G | |
| 7 | g.148809388A>G | CA369712394 | EZH2 | n.3932T>C c.*1094T>C (n.*1094T>C) c.*928T>C (n.*928T>C) n.3751T>C n.3865T>C n.2348T>C n.2410T>C c.2032T>C (p.Phe678Leu) c.1900T>C (p.Phe634Leu) c.2017T>C (p.Phe673Leu) c.1864T>C (p.Phe622Leu) c.1990T>C (p.Phe664Leu) c.*2022T>C (n.*2022T>C) c.2041T>C (p.Phe681Leu) c.2014T>C (p.Phe672Leu) c.1888T>C (p.Phe630Leu) c.2056T>C (p.Phe686Leu) c.2029T>C (p.Phe677Leu) c.2008T>C (p.Phe670Leu) c.2005T>C (p.Phe669Leu) c.1966T>C (p.Phe656Leu) c.1939T>C (p.Phe647Leu) c.1933T>C (p.Phe645Leu) c.1930T>C (p.Phe644Leu) c.1924T>C (p.Phe642Leu) c.1915T>C (p.Phe639Leu) c.1912T>C (p.Phe638Leu) c.1798T>C (p.Phe600Leu) c.1705T>C (p.Phe569Leu) n.515+4303A>G n.722+4303A>G c.1993T>C (p.Phe665Leu) c.1690T>C (p.Phe564Leu) c.1918T>C (p.Phe640Leu) n.4406T>C n.5062T>C n.5522T>C | |
| 7 | g.148809388A>T | CA369712396 | EZH2 | n.3932T>A c.*1094T>A (n.*1094T>A) c.*928T>A (n.*928T>A) n.3751T>A n.3865T>A n.2348T>A n.2410T>A c.2032T>A (p.Phe678Ile) c.1900T>A (p.Phe634Ile) c.2017T>A (p.Phe673Ile) c.1864T>A (p.Phe622Ile) c.1990T>A (p.Phe664Ile) c.*2022T>A (n.*2022T>A) c.2041T>A (p.Phe681Ile) c.2014T>A (p.Phe672Ile) c.1888T>A (p.Phe630Ile) c.2056T>A (p.Phe686Ile) c.2029T>A (p.Phe677Ile) c.2008T>A (p.Phe670Ile) c.2005T>A (p.Phe669Ile) c.1966T>A (p.Phe656Ile) c.1939T>A (p.Phe647Ile) c.1933T>A (p.Phe645Ile) c.1930T>A (p.Phe644Ile) c.1924T>A (p.Phe642Ile) c.1915T>A (p.Phe639Ile) c.1912T>A (p.Phe638Ile) c.1798T>A (p.Phe600Ile) c.1705T>A (p.Phe569Ile) n.515+4303A>T n.722+4303A>T c.1993T>A (p.Phe665Ile) c.1690T>A (p.Phe564Ile) c.1918T>A (p.Phe640Ile) n.4406T>A n.5062T>A n.5522T>A | |
| 7 | g.148809389A>C | CA369712398 | EZH2 | n.3931T>G c.*1093T>G (n.*1093T>G) c.*927T>G (n.*927T>G) n.3750T>G n.3864T>G n.2347T>G n.2409T>G c.2031T>G (p.Asp677Glu) c.1899T>G (p.Asp633Glu) c.2016T>G (p.Asp672Glu) c.1863T>G (p.Asp621Glu) c.1989T>G (p.Asp663Glu) c.*2021T>G (n.*2021T>G) c.2040T>G (p.Asp680Glu) c.2013T>G (p.Asp671Glu) c.1887T>G (p.Asp629Glu) c.2055T>G (p.Asp685Glu) c.2028T>G (p.Asp676Glu) c.2007T>G (p.Asp669Glu) c.2004T>G (p.Asp668Glu) c.1965T>G (p.Asp655Glu) c.1938T>G (p.Asp646Glu) c.1932T>G (p.Asp644Glu) c.1929T>G (p.Asp643Glu) c.1923T>G (p.Asp641Glu) c.1914T>G (p.Asp638Glu) c.1911T>G (p.Asp637Glu) c.1797T>G (p.Asp599Glu) c.1704T>G (p.Asp568Glu) n.515+4304A>C n.722+4304A>C c.1992T>G (p.Asp664Glu) c.1689T>G (p.Asp563Glu) c.1917T>G (p.Asp639Glu) n.4405T>G n.5061T>G n.5521T>G | |
| 7 | g.148809389A>G | CA458345756 | EZH2 | n.3931T>C c.*1093T>C (n.*1093T>C) c.*927T>C (n.*927T>C) n.3750T>C n.3864T>C n.2347T>C n.2409T>C c.2031T>C (p.Asp677=) c.1899T>C (p.Asp633=) c.2016T>C (p.Asp672=) c.1863T>C (p.Asp621=) c.1989T>C (p.Asp663=) c.*2021T>C (n.*2021T>C) c.2040T>C (p.Asp680=) c.2013T>C (p.Asp671=) c.1887T>C (p.Asp629=) c.2055T>C (p.Asp685=) c.2028T>C (p.Asp676=) c.2007T>C (p.Asp669=) c.2004T>C (p.Asp668=) c.1965T>C (p.Asp655=) c.1938T>C (p.Asp646=) c.1932T>C (p.Asp644=) c.1929T>C (p.Asp643=) c.1923T>C (p.Asp641=) c.1914T>C (p.Asp638=) c.1911T>C (p.Asp637=) c.1797T>C (p.Asp599=) c.1704T>C (p.Asp568=) n.515+4304A>G n.722+4304A>G c.1992T>C (p.Asp664=) c.1689T>C (p.Asp563=) c.1917T>C (p.Asp639=) n.4405T>C n.5061T>C n.5521T>C | |
| 7 | g.148809389A>T | CA369712399 | EZH2 | n.3931T>A c.*1093T>A (n.*1093T>A) c.*927T>A (n.*927T>A) n.3750T>A n.3864T>A n.2347T>A n.2409T>A c.2031T>A (p.Asp677Glu) c.1899T>A (p.Asp633Glu) c.2016T>A (p.Asp672Glu) c.1863T>A (p.Asp621Glu) c.1989T>A (p.Asp663Glu) c.*2021T>A (n.*2021T>A) c.2040T>A (p.Asp680Glu) c.2013T>A (p.Asp671Glu) c.1887T>A (p.Asp629Glu) c.2055T>A (p.Asp685Glu) c.2028T>A (p.Asp676Glu) c.2007T>A (p.Asp669Glu) c.2004T>A (p.Asp668Glu) c.1965T>A (p.Asp655Glu) c.1938T>A (p.Asp646Glu) c.1932T>A (p.Asp644Glu) c.1929T>A (p.Asp643Glu) c.1923T>A (p.Asp641Glu) c.1914T>A (p.Asp638Glu) c.1911T>A (p.Asp637Glu) c.1797T>A (p.Asp599Glu) c.1704T>A (p.Asp568Glu) n.515+4304A>T n.722+4304A>T c.1992T>A (p.Asp664Glu) c.1689T>A (p.Asp563Glu) c.1917T>A (p.Asp639Glu) n.4405T>A n.5061T>A n.5521T>A | |
| 7 | g.148809390T>A | CA369712401 | EZH2 | n.3930A>T c.*1092A>T (n.*1092A>T) c.*926A>T (n.*926A>T) n.3749A>T n.3863A>T n.2346A>T n.2408A>T c.2030A>T (p.Asp677Val) c.1898A>T (p.Asp633Val) c.2015A>T (p.Asp672Val) c.1862A>T (p.Asp621Val) c.1988A>T (p.Asp663Val) c.*2020A>T (n.*2020A>T) c.2039A>T (p.Asp680Val) c.2012A>T (p.Asp671Val) c.1886A>T (p.Asp629Val) c.2054A>T (p.Asp685Val) c.2027A>T (p.Asp676Val) c.2006A>T (p.Asp669Val) c.2003A>T (p.Asp668Val) c.1964A>T (p.Asp655Val) c.1937A>T (p.Asp646Val) c.1931A>T (p.Asp644Val) c.1928A>T (p.Asp643Val) c.1922A>T (p.Asp641Val) c.1913A>T (p.Asp638Val) c.1910A>T (p.Asp637Val) c.1796A>T (p.Asp599Val) c.1703A>T (p.Asp568Val) n.515+4305T>A n.722+4305T>A c.1991A>T (p.Asp664Val) c.1688A>T (p.Asp563Val) c.1916A>T (p.Asp639Val) n.4404A>T n.5060A>T n.5520A>T | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.148809390T>C | CA369712403 | EZH2 | n.3930A>G c.*1092A>G (n.*1092A>G) c.*926A>G (n.*926A>G) n.3749A>G n.3863A>G n.2346A>G n.2408A>G c.2030A>G (p.Asp677Gly) c.1898A>G (p.Asp633Gly) c.2015A>G (p.Asp672Gly) c.1862A>G (p.Asp621Gly) c.1988A>G (p.Asp663Gly) c.*2020A>G (n.*2020A>G) c.2039A>G (p.Asp680Gly) c.2012A>G (p.Asp671Gly) c.1886A>G (p.Asp629Gly) c.2054A>G (p.Asp685Gly) c.2027A>G (p.Asp676Gly) c.2006A>G (p.Asp669Gly) c.2003A>G (p.Asp668Gly) c.1964A>G (p.Asp655Gly) c.1937A>G (p.Asp646Gly) c.1931A>G (p.Asp644Gly) c.1928A>G (p.Asp643Gly) c.1922A>G (p.Asp641Gly) c.1913A>G (p.Asp638Gly) c.1910A>G (p.Asp637Gly) c.1796A>G (p.Asp599Gly) c.1703A>G (p.Asp568Gly) n.515+4305T>C n.722+4305T>C c.1991A>G (p.Asp664Gly) c.1688A>G (p.Asp563Gly) c.1916A>G (p.Asp639Gly) n.4404A>G n.5060A>G n.5520A>G |