| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.148807648_148807730del | CA2695202489 | EZH2 | n.4096-17_4161del c.*1258-17_*1323del c.*1092-17_*1157del n.3915-17_3980del n.4183-17_4248del n.2512-17_2577del n.2574-17_2639del c.2196-17_*5del c.2064-17_*5del c.2181-17_*5del c.2028-17_*5del c.2154-17_*5del c.*2186-17_*2251del c.2205-17_*5del c.2178-17_*5del c.2052-17_*5del c.2220-17_*5del c.2193-17_*5del c.2172-17_*5del c.2169-17_*5del c.2130-17_*5del c.2103-17_*5del c.2097-17_*5del c.2094-17_*5del c.2088-17_*5del c.2079-17_*5del c.2076-17_*5del c.1962-17_*5del c.1869-17_*5del n.515+2563_515+2645del n.722+2563_722+2645del c.2157-17_*5del c.1854-17_*5del c.2082-17_*5del n.4570-17_4635del n.5226-17_5291del n.5686-17_5751del | |
| 7 | g.148807664_148807672delinsCCTCTC | CA645563916 | EZH2 | n.4130_4138delinsGAGAGG c.*1292_*1300delinsGAGAGG (n.*1292_*1300delinsGAGAGG) c.*1126_*1134delinsGAGAGG (n.*1126_*1134delinsGAGAGG) n.3949_3957delinsGAGAGG n.4217_4225delinsGAGAGG n.2546_2554delinsGAGAGG n.2608_2616delinsGAGAGG c.2230_2238delinsGAGAGG (p.Ile744del) c.2098_2106delinsGAGAGG (p.Ile700del) c.2215_2223delinsGAGAGG (p.Ile739del) c.2062_2070delinsGAGAGG (p.Ile688del) c.2188_2196delinsGAGAGG (p.Ile730del) c.*2220_*2228delinsGAGAGG (n.*2220_*2228delinsGAGAGG) c.2239_2247delinsGAGAGG (p.Ile747del) c.2212_2220delinsGAGAGG (p.Ile738del) c.2086_2094delinsGAGAGG (p.Ile696del) c.2254_2262delinsGAGAGG (p.Ile752del) c.2227_2235delinsGAGAGG (p.Ile743del) c.2206_2214delinsGAGAGG (p.Ile736del) c.2203_2211delinsGAGAGG (p.Ile735del) c.2164_2172delinsGAGAGG (p.Ile722del) c.2137_2145delinsGAGAGG (p.Ile713del) c.2131_2139delinsGAGAGG (p.Ile711del) c.2128_2136delinsGAGAGG (p.Ile710del) c.2122_2130delinsGAGAGG (p.Ile708del) c.2113_2121delinsGAGAGG (p.Ile705del) c.2110_2118delinsGAGAGG (p.Ile704del) c.1996_2004delinsGAGAGG (p.Ile666del) c.1903_1911delinsGAGAGG (p.Ile635del) n.515+2579_515+2587delinsCCTCTC n.722+2579_722+2587delinsCCTCTC c.2191_2199delinsGAGAGG (p.Ile731del) c.1888_1896delinsGAGAGG (p.Ile630del) c.2116_2124delinsGAGAGG (p.Ile706del) n.4604_4612delinsGAGAGG n.5260_5268delinsGAGAGG n.5720_5728delinsGAGAGG | COSMIC |
| 7 | g.148807666T>A | CA369711776 | EZH2 | n.4136A>T c.*1298A>T (n.*1298A>T) c.*1132A>T (n.*1132A>T) n.3955A>T n.4223A>T n.2552A>T n.2614A>T c.2236A>T (p.Arg746Ter) c.2104A>T (p.Arg702Ter) c.2221A>T (p.Arg741Ter) c.2068A>T (p.Arg690Ter) c.2194A>T (p.Arg732Ter) c.*2226A>T (n.*2226A>T) c.2245A>T (p.Arg749Ter) c.2218A>T (p.Arg740Ter) c.2092A>T (p.Arg698Ter) c.2260A>T (p.Arg754Ter) c.2233A>T (p.Arg745Ter) c.2212A>T (p.Arg738Ter) c.2209A>T (p.Arg737Ter) c.2170A>T (p.Arg724Ter) c.2143A>T (p.Arg715Ter) c.2137A>T (p.Arg713Ter) c.2134A>T (p.Arg712Ter) c.2128A>T (p.Arg710Ter) c.2119A>T (p.Arg707Ter) c.2116A>T (p.Arg706Ter) c.2002A>T (p.Arg668Ter) c.1909A>T (p.Arg637Ter) n.515+2581T>A n.722+2581T>A c.2197A>T (p.Arg733Ter) c.1894A>T (p.Arg632Ter) c.2122A>T (p.Arg708Ter) n.4610A>T n.5266A>T n.5726A>T | |
| 7 | g.148807666T>C | CA271515 | EZH2 | n.4136A>G c.*1298A>G (n.*1298A>G) c.*1132A>G (n.*1132A>G) n.3955A>G n.4223A>G n.2552A>G n.2614A>G c.2236A>G (p.Arg746Gly) c.2104A>G (p.Arg702Gly) c.2221A>G (p.Arg741Gly) c.2068A>G (p.Arg690Gly) c.2194A>G (p.Arg732Gly) c.*2226A>G (n.*2226A>G) c.2245A>G (p.Arg749Gly) c.2218A>G (p.Arg740Gly) c.2092A>G (p.Arg698Gly) c.2260A>G (p.Arg754Gly) c.2233A>G (p.Arg745Gly) c.2212A>G (p.Arg738Gly) c.2209A>G (p.Arg737Gly) c.2170A>G (p.Arg724Gly) c.2143A>G (p.Arg715Gly) c.2137A>G (p.Arg713Gly) c.2134A>G (p.Arg712Gly) c.2128A>G (p.Arg710Gly) c.2119A>G (p.Arg707Gly) c.2116A>G (p.Arg706Gly) c.2002A>G (p.Arg668Gly) c.1909A>G (p.Arg637Gly) n.515+2581T>C n.722+2581T>C c.2197A>G (p.Arg733Gly) c.1894A>G (p.Arg632Gly) c.2122A>G (p.Arg708Gly) n.4610A>G n.5266A>G n.5726A>G | ClinVar dbSNP gnomAD v4 |
| 7 | g.148807666T>G | CA458345618 | EZH2 | n.4136A>C c.*1298A>C (n.*1298A>C) c.*1132A>C (n.*1132A>C) n.3955A>C n.4223A>C n.2552A>C n.2614A>C c.2236A>C (p.Arg746=) c.2104A>C (p.Arg702=) c.2221A>C (p.Arg741=) c.2068A>C (p.Arg690=) c.2194A>C (p.Arg732=) c.*2226A>C (n.*2226A>C) c.2245A>C (p.Arg749=) c.2218A>C (p.Arg740=) c.2092A>C (p.Arg698=) c.2260A>C (p.Arg754=) c.2233A>C (p.Arg745=) c.2212A>C (p.Arg738=) c.2209A>C (p.Arg737=) c.2170A>C (p.Arg724=) c.2143A>C (p.Arg715=) c.2137A>C (p.Arg713=) c.2134A>C (p.Arg712=) c.2128A>C (p.Arg710=) c.2119A>C (p.Arg707=) c.2116A>C (p.Arg706=) c.2002A>C (p.Arg668=) c.1909A>C (p.Arg637=) n.515+2581T>G n.722+2581T>G c.2197A>C (p.Arg733=) c.1894A>C (p.Arg632=) c.2122A>C (p.Arg708=) n.4610A>C n.5266A>C n.5726A>C | |
| 7 | g.148807666T= | CA1751419283 | EZH2 | n.4136A= c.*1298A= (n.*1298A=) c.*1132A= (n.*1132A=) n.3955A= n.4223A= n.2552A= n.2614A= c.2236A= (p.Arg746=) c.2104A= (p.Arg702=) c.2221A= (p.Arg741=) c.2068A= (p.Arg690=) c.2194A= (p.Arg732=) c.*2226A= (n.*2226A=) c.2245A= (p.Arg749=) c.2218A= (p.Arg740=) c.2092A= (p.Arg698=) c.2260A= (p.Arg754=) c.2233A= (p.Arg745=) c.2212A= (p.Arg738=) c.2209A= (p.Arg737=) c.2170A= (p.Arg724=) c.2143A= (p.Arg715=) c.2137A= (p.Arg713=) c.2134A= (p.Arg712=) c.2128A= (p.Arg710=) c.2119A= (p.Arg707=) c.2116A= (p.Arg706=) c.2002A= (p.Arg668=) c.1909A= (p.Arg637=) n.515+2581T= n.722+2581T= c.2197A= (p.Arg733=) c.1894A= (p.Arg632=) c.2122A= (p.Arg708=) n.4610A= n.5266A= n.5726A= | |
| 7 | g.148807667T>A | CA369711777 | EZH2 | n.4135A>T c.*1297A>T (n.*1297A>T) c.*1131A>T (n.*1131A>T) n.3954A>T n.4222A>T n.2551A>T n.2613A>T c.2235A>T (p.Glu745Asp) c.2103A>T (p.Glu701Asp) c.2220A>T (p.Glu740Asp) c.2067A>T (p.Glu689Asp) c.2193A>T (p.Glu731Asp) c.*2225A>T (n.*2225A>T) c.2244A>T (p.Glu748Asp) c.2217A>T (p.Glu739Asp) c.2091A>T (p.Glu697Asp) c.2259A>T (p.Glu753Asp) c.2232A>T (p.Glu744Asp) c.2211A>T (p.Glu737Asp) c.2208A>T (p.Glu736Asp) c.2169A>T (p.Glu723Asp) c.2142A>T (p.Glu714Asp) c.2136A>T (p.Glu712Asp) c.2133A>T (p.Glu711Asp) c.2127A>T (p.Glu709Asp) c.2118A>T (p.Glu706Asp) c.2115A>T (p.Glu705Asp) c.2001A>T (p.Glu667Asp) c.1908A>T (p.Glu636Asp) n.515+2582T>A n.722+2582T>A c.2196A>T (p.Glu732Asp) c.1893A>T (p.Glu631Asp) c.2121A>T (p.Glu707Asp) n.4609A>T n.5265A>T n.5725A>T | ClinVar dbSNP |
| 7 | g.148807667T>C | CA458345619 | EZH2 | n.4135A>G c.*1297A>G (n.*1297A>G) c.*1131A>G (n.*1131A>G) n.3954A>G n.4222A>G n.2551A>G n.2613A>G c.2235A>G (p.Glu745=) c.2103A>G (p.Glu701=) c.2220A>G (p.Glu740=) c.2067A>G (p.Glu689=) c.2193A>G (p.Glu731=) c.*2225A>G (n.*2225A>G) c.2244A>G (p.Glu748=) c.2217A>G (p.Glu739=) c.2091A>G (p.Glu697=) c.2259A>G (p.Glu753=) c.2232A>G (p.Glu744=) c.2211A>G (p.Glu737=) c.2208A>G (p.Glu736=) c.2169A>G (p.Glu723=) c.2142A>G (p.Glu714=) c.2136A>G (p.Glu712=) c.2133A>G (p.Glu711=) c.2127A>G (p.Glu709=) c.2118A>G (p.Glu706=) c.2115A>G (p.Glu705=) c.2001A>G (p.Glu667=) c.1908A>G (p.Glu636=) n.515+2582T>C n.722+2582T>C c.2196A>G (p.Glu732=) c.1893A>G (p.Glu631=) c.2121A>G (p.Glu707=) n.4609A>G n.5265A>G n.5725A>G | gnomAD v4 |
| 7 | g.148807667T>G | CA369711778 | EZH2 | n.4135A>C c.*1297A>C (n.*1297A>C) c.*1131A>C (n.*1131A>C) n.3954A>C n.4222A>C n.2551A>C n.2613A>C c.2235A>C (p.Glu745Asp) c.2103A>C (p.Glu701Asp) c.2220A>C (p.Glu740Asp) c.2067A>C (p.Glu689Asp) c.2193A>C (p.Glu731Asp) c.*2225A>C (n.*2225A>C) c.2244A>C (p.Glu748Asp) c.2217A>C (p.Glu739Asp) c.2091A>C (p.Glu697Asp) c.2259A>C (p.Glu753Asp) c.2232A>C (p.Glu744Asp) c.2211A>C (p.Glu737Asp) c.2208A>C (p.Glu736Asp) c.2169A>C (p.Glu723Asp) c.2142A>C (p.Glu714Asp) c.2136A>C (p.Glu712Asp) c.2133A>C (p.Glu711Asp) c.2127A>C (p.Glu709Asp) c.2118A>C (p.Glu706Asp) c.2115A>C (p.Glu705Asp) c.2001A>C (p.Glu667Asp) c.1908A>C (p.Glu636Asp) n.515+2582T>G n.722+2582T>G c.2196A>C (p.Glu732Asp) c.1893A>C (p.Glu631Asp) c.2121A>C (p.Glu707Asp) n.4609A>C n.5265A>C n.5725A>C | dbSNP |
| 7 | g.148807667T= | CA1751419288 | EZH2 | n.4135A= c.*1297A= (n.*1297A=) c.*1131A= (n.*1131A=) n.3954A= n.4222A= n.2551A= n.2613A= c.2235A= (p.Glu745=) c.2103A= (p.Glu701=) c.2220A= (p.Glu740=) c.2067A= (p.Glu689=) c.2193A= (p.Glu731=) c.*2225A= (n.*2225A=) c.2244A= (p.Glu748=) c.2217A= (p.Glu739=) c.2091A= (p.Glu697=) c.2259A= (p.Glu753=) c.2232A= (p.Glu744=) c.2211A= (p.Glu737=) c.2208A= (p.Glu736=) c.2169A= (p.Glu723=) c.2142A= (p.Glu714=) c.2136A= (p.Glu712=) c.2133A= (p.Glu711=) c.2127A= (p.Glu709=) c.2118A= (p.Glu706=) c.2115A= (p.Glu705=) c.2001A= (p.Glu667=) c.1908A= (p.Glu636=) n.515+2582T= n.722+2582T= c.2196A= (p.Glu732=) c.1893A= (p.Glu631=) c.2121A= (p.Glu707=) n.4609A= n.5265A= n.5725A= | |
| 7 | g.148807668T>A | CA369711779 | EZH2 | n.4134A>T c.*1296A>T (n.*1296A>T) c.*1130A>T (n.*1130A>T) n.3953A>T n.4221A>T n.2550A>T n.2612A>T c.2234A>T (p.Glu745Val) c.2102A>T (p.Glu701Val) c.2219A>T (p.Glu740Val) c.2066A>T (p.Glu689Val) c.2192A>T (p.Glu731Val) c.*2224A>T (n.*2224A>T) c.2243A>T (p.Glu748Val) c.2216A>T (p.Glu739Val) c.2090A>T (p.Glu697Val) c.2258A>T (p.Glu753Val) c.2231A>T (p.Glu744Val) c.2210A>T (p.Glu737Val) c.2207A>T (p.Glu736Val) c.2168A>T (p.Glu723Val) c.2141A>T (p.Glu714Val) c.2135A>T (p.Glu712Val) c.2132A>T (p.Glu711Val) c.2126A>T (p.Glu709Val) c.2117A>T (p.Glu706Val) c.2114A>T (p.Glu705Val) c.2000A>T (p.Glu667Val) c.1907A>T (p.Glu636Val) n.515+2583T>A n.722+2583T>A c.2195A>T (p.Glu732Val) c.1892A>T (p.Glu631Val) c.2120A>T (p.Glu707Val) n.4608A>T n.5264A>T n.5724A>T | |
| 7 | g.148807668T>C | CA369711780 | EZH2 | n.4134A>G c.*1296A>G (n.*1296A>G) c.*1130A>G (n.*1130A>G) n.3953A>G n.4221A>G n.2550A>G n.2612A>G c.2234A>G (p.Glu745Gly) c.2102A>G (p.Glu701Gly) c.2219A>G (p.Glu740Gly) c.2066A>G (p.Glu689Gly) c.2192A>G (p.Glu731Gly) c.*2224A>G (n.*2224A>G) c.2243A>G (p.Glu748Gly) c.2216A>G (p.Glu739Gly) c.2090A>G (p.Glu697Gly) c.2258A>G (p.Glu753Gly) c.2231A>G (p.Glu744Gly) c.2210A>G (p.Glu737Gly) c.2207A>G (p.Glu736Gly) c.2168A>G (p.Glu723Gly) c.2141A>G (p.Glu714Gly) c.2135A>G (p.Glu712Gly) c.2132A>G (p.Glu711Gly) c.2126A>G (p.Glu709Gly) c.2117A>G (p.Glu706Gly) c.2114A>G (p.Glu705Gly) c.2000A>G (p.Glu667Gly) c.1907A>G (p.Glu636Gly) n.515+2583T>C n.722+2583T>C c.2195A>G (p.Glu732Gly) c.1892A>G (p.Glu631Gly) c.2120A>G (p.Glu707Gly) n.4608A>G n.5264A>G n.5724A>G | ClinVar dbSNP gnomAD v4 |
| 7 | g.148807668T>G | CA369711781 | EZH2 | n.4134A>C c.*1296A>C (n.*1296A>C) c.*1130A>C (n.*1130A>C) n.3953A>C n.4221A>C n.2550A>C n.2612A>C c.2234A>C (p.Glu745Ala) c.2102A>C (p.Glu701Ala) c.2219A>C (p.Glu740Ala) c.2066A>C (p.Glu689Ala) c.2192A>C (p.Glu731Ala) c.*2224A>C (n.*2224A>C) c.2243A>C (p.Glu748Ala) c.2216A>C (p.Glu739Ala) c.2090A>C (p.Glu697Ala) c.2258A>C (p.Glu753Ala) c.2231A>C (p.Glu744Ala) c.2210A>C (p.Glu737Ala) c.2207A>C (p.Glu736Ala) c.2168A>C (p.Glu723Ala) c.2141A>C (p.Glu714Ala) c.2135A>C (p.Glu712Ala) c.2132A>C (p.Glu711Ala) c.2126A>C (p.Glu709Ala) c.2117A>C (p.Glu706Ala) c.2114A>C (p.Glu705Ala) c.2000A>C (p.Glu667Ala) c.1907A>C (p.Glu636Ala) n.515+2583T>G n.722+2583T>G c.2195A>C (p.Glu732Ala) c.1892A>C (p.Glu631Ala) c.2120A>C (p.Glu707Ala) n.4608A>C n.5264A>C n.5724A>C | |
| 7 | g.148807668T= | CA1751419292 | EZH2 | n.4134A= c.*1296A= (n.*1296A=) c.*1130A= (n.*1130A=) n.3953A= n.4221A= n.2550A= n.2612A= c.2234A= (p.Glu745=) c.2102A= (p.Glu701=) c.2219A= (p.Glu740=) c.2066A= (p.Glu689=) c.2192A= (p.Glu731=) c.*2224A= (n.*2224A=) c.2243A= (p.Glu748=) c.2216A= (p.Glu739=) c.2090A= (p.Glu697=) c.2258A= (p.Glu753=) c.2231A= (p.Glu744=) c.2210A= (p.Glu737=) c.2207A= (p.Glu736=) c.2168A= (p.Glu723=) c.2141A= (p.Glu714=) c.2135A= (p.Glu712=) c.2132A= (p.Glu711=) c.2126A= (p.Glu709=) c.2117A= (p.Glu706=) c.2114A= (p.Glu705=) c.2000A= (p.Glu667=) c.1907A= (p.Glu636=) n.515+2583T= n.722+2583T= c.2195A= (p.Glu732=) c.1892A= (p.Glu631=) c.2120A= (p.Glu707=) n.4608A= n.5264A= n.5724A= | |
| 7 | g.148807668_148807673del | CA645563917 | EZH2 | n.4129_4134del c.*1291_*1296del (n.*1291_*1296del) c.*1125_*1130del (n.*1125_*1130del) n.3948_3953del n.4216_4221del n.2545_2550del n.2607_2612del c.2229_2234del (p.Ile744_Glu745del) c.2097_2102del (p.Ile700_Glu701del) c.2214_2219del (p.Ile739_Glu740del) c.2061_2066del (p.Ile688_Glu689del) c.2187_2192del (p.Ile730_Glu731del) c.*2219_*2224del (n.*2219_*2224del) c.2238_2243del (p.Ile747_Glu748del) c.2211_2216del (p.Ile738_Glu739del) c.2085_2090del (p.Ile696_Glu697del) c.2253_2258del (p.Ile752_Glu753del) c.2226_2231del (p.Ile743_Glu744del) c.2205_2210del (p.Ile736_Glu737del) c.2202_2207del (p.Ile735_Glu736del) c.2163_2168del (p.Ile722_Glu723del) c.2136_2141del (p.Ile713_Glu714del) c.2130_2135del (p.Ile711_Glu712del) c.2127_2132del (p.Ile710_Glu711del) c.2121_2126del (p.Ile708_Glu709del) c.2112_2117del (p.Ile705_Glu706del) c.2109_2114del (p.Ile704_Glu705del) c.1995_2000del (p.Ile666_Glu667del) c.1902_1907del (p.Ile635_Glu636del) n.515+2583_515+2588del n.722+2583_722+2588del c.2190_2195del (p.Ile731_Glu732del) c.1887_1892del (p.Ile630_Glu631del) c.2115_2120del (p.Ile706_Glu707del) n.4603_4608del n.5259_5264del n.5719_5724del | COSMIC COSMIC |
| 7 | g.148807668_148807683delinsGATCCTCGACGAC | CA2573320647 | EZH2 | n.4119_4134delinsGTCGTCGAGGATC c.*1281_*1296delinsGTCGTCGAGGATC (n.*1281_*1296delinsGTCGTCGAGGATC) c.*1115_*1130delinsGTCGTCGAGGATC (n.*1115_*1130delinsGTCGTCGAGGATC) n.3938_3953delinsGTCGTCGAGGATC n.4206_4221delinsGTCGTCGAGGATC n.2535_2550delinsGTCGTCGAGGATC n.2597_2612delinsGTCGTCGAGGATC c.2219_2234delinsGTCGTCGAGGATC (p.Lys740_Glu745delinsSerArgArgGlySer) c.2087_2102delinsGTCGTCGAGGATC (p.Lys696_Glu701delinsSerArgArgGlySer) c.2204_2219delinsGTCGTCGAGGATC (p.Lys735_Glu740delinsSerArgArgGlySer) c.2051_2066delinsGTCGTCGAGGATC (p.Lys684_Glu689delinsSerArgArgGlySer) c.2177_2192delinsGTCGTCGAGGATC (p.Lys726_Glu731delinsSerArgArgGlySer) c.*2209_*2224delinsGTCGTCGAGGATC (n.*2209_*2224delinsGTCGTCGAGGATC) c.2228_2243delinsGTCGTCGAGGATC (p.Lys743_Glu748delinsSerArgArgGlySer) c.2201_2216delinsGTCGTCGAGGATC (p.Lys734_Glu739delinsSerArgArgGlySer) c.2075_2090delinsGTCGTCGAGGATC (p.Lys692_Glu697delinsSerArgArgGlySer) c.2243_2258delinsGTCGTCGAGGATC (p.Lys748_Glu753delinsSerArgArgGlySer) c.2216_2231delinsGTCGTCGAGGATC (p.Lys739_Glu744delinsSerArgArgGlySer) c.2195_2210delinsGTCGTCGAGGATC (p.Lys732_Glu737delinsSerArgArgGlySer) c.2192_2207delinsGTCGTCGAGGATC (p.Lys731_Glu736delinsSerArgArgGlySer) c.2153_2168delinsGTCGTCGAGGATC (p.Lys718_Glu723delinsSerArgArgGlySer) c.2126_2141delinsGTCGTCGAGGATC (p.Lys709_Glu714delinsSerArgArgGlySer) c.2120_2135delinsGTCGTCGAGGATC (p.Lys707_Glu712delinsSerArgArgGlySer) c.2117_2132delinsGTCGTCGAGGATC (p.Lys706_Glu711delinsSerArgArgGlySer) c.2111_2126delinsGTCGTCGAGGATC (p.Lys704_Glu709delinsSerArgArgGlySer) c.2102_2117delinsGTCGTCGAGGATC (p.Lys701_Glu706delinsSerArgArgGlySer) c.2099_2114delinsGTCGTCGAGGATC (p.Lys700_Glu705delinsSerArgArgGlySer) c.1985_2000delinsGTCGTCGAGGATC (p.Lys662_Glu667delinsSerArgArgGlySer) c.1892_1907delinsGTCGTCGAGGATC (p.Lys631_Glu636delinsSerArgArgGlySer) n.515+2583_515+2598delinsGATCCTCGACGAC n.722+2583_722+2598delinsGATCCTCGACGAC c.2180_2195delinsGTCGTCGAGGATC (p.Lys727_Glu732delinsSerArgArgGlySer) c.1877_1892delinsGTCGTCGAGGATC (p.Lys626_Glu631delinsSerArgArgGlySer) c.2105_2120delinsGTCGTCGAGGATC (p.Lys702_Glu707delinsSerArgArgGlySer) n.4593_4608delinsGTCGTCGAGGATC n.5249_5264delinsGTCGTCGAGGATC n.5709_5724delinsGTCGTCGAGGATC | |
| 7 | g.148807669C>A | CA369711782 | EZH2 | n.4133G>T c.*1295G>T (n.*1295G>T) c.*1129G>T (n.*1129G>T) n.3952G>T n.4220G>T n.2549G>T n.2611G>T c.2233G>T (p.Glu745Ter) c.2101G>T (p.Glu701Ter) c.2218G>T (p.Glu740Ter) c.2065G>T (p.Glu689Ter) c.2191G>T (p.Glu731Ter) c.*2223G>T (n.*2223G>T) c.2242G>T (p.Glu748Ter) c.2215G>T (p.Glu739Ter) c.2089G>T (p.Glu697Ter) c.2257G>T (p.Glu753Ter) c.2230G>T (p.Glu744Ter) c.2209G>T (p.Glu737Ter) c.2206G>T (p.Glu736Ter) c.2167G>T (p.Glu723Ter) c.2140G>T (p.Glu714Ter) c.2134G>T (p.Glu712Ter) c.2131G>T (p.Glu711Ter) c.2125G>T (p.Glu709Ter) c.2116G>T (p.Glu706Ter) c.2113G>T (p.Glu705Ter) c.1999G>T (p.Glu667Ter) c.1906G>T (p.Glu636Ter) n.515+2584C>A n.722+2584C>A c.2194G>T (p.Glu732Ter) c.1891G>T (p.Glu631Ter) c.2119G>T (p.Glu707Ter) n.4607G>T n.5263G>T n.5723G>T | ClinVar gnomAD v4 |
| 7 | g.148807669C= | CA1751419297 | EZH2 | n.4133G= c.*1295G= (n.*1295G=) c.*1129G= (n.*1129G=) n.3952G= n.4220G= n.2549G= n.2611G= c.2233G= (p.Glu745=) c.2101G= (p.Glu701=) c.2218G= (p.Glu740=) c.2065G= (p.Glu689=) c.2191G= (p.Glu731=) c.*2223G= (n.*2223G=) c.2242G= (p.Glu748=) c.2215G= (p.Glu739=) c.2089G= (p.Glu697=) c.2257G= (p.Glu753=) c.2230G= (p.Glu744=) c.2209G= (p.Glu737=) c.2206G= (p.Glu736=) c.2167G= (p.Glu723=) c.2140G= (p.Glu714=) c.2134G= (p.Glu712=) c.2131G= (p.Glu711=) c.2125G= (p.Glu709=) c.2116G= (p.Glu706=) c.2113G= (p.Glu705=) c.1999G= (p.Glu667=) c.1906G= (p.Glu636=) n.515+2584C= n.722+2584C= c.2194G= (p.Glu732=) c.1891G= (p.Glu631=) c.2119G= (p.Glu707=) n.4607G= n.5263G= n.5723G= | |
| 7 | g.148807669C>G | CA369711783 | EZH2 | n.4133G>C c.*1295G>C (n.*1295G>C) c.*1129G>C (n.*1129G>C) n.3952G>C n.4220G>C n.2549G>C n.2611G>C c.2233G>C (p.Glu745Gln) c.2101G>C (p.Glu701Gln) c.2218G>C (p.Glu740Gln) c.2065G>C (p.Glu689Gln) c.2191G>C (p.Glu731Gln) c.*2223G>C (n.*2223G>C) c.2242G>C (p.Glu748Gln) c.2215G>C (p.Glu739Gln) c.2089G>C (p.Glu697Gln) c.2257G>C (p.Glu753Gln) c.2230G>C (p.Glu744Gln) c.2209G>C (p.Glu737Gln) c.2206G>C (p.Glu736Gln) c.2167G>C (p.Glu723Gln) c.2140G>C (p.Glu714Gln) c.2134G>C (p.Glu712Gln) c.2131G>C (p.Glu711Gln) c.2125G>C (p.Glu709Gln) c.2116G>C (p.Glu706Gln) c.2113G>C (p.Glu705Gln) c.1999G>C (p.Glu667Gln) c.1906G>C (p.Glu636Gln) n.515+2584C>G n.722+2584C>G c.2194G>C (p.Glu732Gln) c.1891G>C (p.Glu631Gln) c.2119G>C (p.Glu707Gln) n.4607G>C n.5263G>C n.5723G>C | COSMIC |
| 7 | g.148807669C>T | CA345008 | EZH2 | n.4133G>A c.*1295G>A (n.*1295G>A) c.*1129G>A (n.*1129G>A) n.3952G>A n.4220G>A n.2549G>A n.2611G>A c.2233G>A (p.Glu745Lys) c.2101G>A (p.Glu701Lys) c.2218G>A (p.Glu740Lys) c.2065G>A (p.Glu689Lys) c.2191G>A (p.Glu731Lys) c.*2223G>A (n.*2223G>A) c.2242G>A (p.Glu748Lys) c.2215G>A (p.Glu739Lys) c.2089G>A (p.Glu697Lys) c.2257G>A (p.Glu753Lys) c.2230G>A (p.Glu744Lys) c.2209G>A (p.Glu737Lys) c.2206G>A (p.Glu736Lys) c.2167G>A (p.Glu723Lys) c.2140G>A (p.Glu714Lys) c.2134G>A (p.Glu712Lys) c.2131G>A (p.Glu711Lys) c.2125G>A (p.Glu709Lys) c.2116G>A (p.Glu706Lys) c.2113G>A (p.Glu705Lys) c.1999G>A (p.Glu667Lys) c.1906G>A (p.Glu636Lys) n.515+2584C>T n.722+2584C>T c.2194G>A (p.Glu732Lys) c.1891G>A (p.Glu631Lys) c.2119G>A (p.Glu707Lys) n.4607G>A n.5263G>A n.5723G>A | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 7 | g.148807670_148807674dup | CA645563918 | EZH2 | n.4129_4133dup c.*1291_*1295dup (n.*1291_*1295dup) c.*1125_*1129dup (n.*1125_*1129dup) n.3948_3952dup n.4216_4220dup n.2545_2549dup n.2607_2611dup c.2229_2233dup (p.Glu745AlafsTer24) c.2097_2101dup (p.Glu701AlafsTer24) c.2214_2218dup (p.Glu740AlafsTer24) c.2061_2065dup (p.Glu689AlafsTer24) c.2187_2191dup (p.Glu731AlafsTer24) c.*2219_*2223dup (n.*2219_*2223dup) c.2238_2242dup (p.Glu748AlafsTer24) c.2211_2215dup (p.Glu739AlafsTer24) c.2085_2089dup (p.Glu697AlafsTer24) c.2253_2257dup (p.Glu753AlafsTer24) c.2226_2230dup (p.Glu744AlafsTer24) c.2205_2209dup (p.Glu737AlafsTer24) c.2202_2206dup (p.Glu736AlafsTer24) c.2163_2167dup (p.Glu723AlafsTer24) c.2136_2140dup (p.Glu714AlafsTer24) c.2130_2134dup (p.Glu712AlafsTer24) c.2127_2131dup (p.Glu711AlafsTer24) c.2121_2125dup (p.Glu709AlafsTer24) c.2112_2116dup (p.Glu706AlafsTer24) c.2109_2113dup (p.Glu705AlafsTer24) c.1995_1999dup (p.Glu667AlafsTer24) c.1902_1906dup (p.Glu636AlafsTer24) n.515+2585_515+2589dup n.722+2585_722+2589dup c.2190_2194dup (p.Glu732AlafsTer24) c.1887_1891dup (p.Glu631AlafsTer24) c.2115_2119dup (p.Glu707AlafsTer24) n.4603_4607dup n.5259_5263dup n.5719_5723dup | COSMIC |
| 7 | g.148807670del | CA645563919 | EZH2 | n.4132del c.*1294del (n.*1294del) c.*1128del (n.*1128del) n.3951del n.4219del n.2548del n.2610del c.2232del (p.Ile744MetfsTer23) c.2100del (p.Ile700MetfsTer23) c.2217del (p.Ile739MetfsTer23) c.2064del (p.Ile688MetfsTer23) c.2190del (p.Ile730MetfsTer23) c.*2222del (n.*2222del) c.2241del (p.Ile747MetfsTer23) c.2214del (p.Ile738MetfsTer23) c.2088del (p.Ile696MetfsTer23) c.2256del (p.Ile752MetfsTer23) c.2229del (p.Ile743MetfsTer23) c.2208del (p.Ile736MetfsTer23) c.2205del (p.Ile735MetfsTer23) c.2166del (p.Ile722MetfsTer23) c.2139del (p.Ile713MetfsTer23) c.2133del (p.Ile711MetfsTer23) c.2130del (p.Ile710MetfsTer23) c.2124del (p.Ile708MetfsTer23) c.2115del (p.Ile705MetfsTer23) c.2112del (p.Ile704MetfsTer23) c.1998del (p.Ile666MetfsTer23) c.1905del (p.Ile635MetfsTer23) n.515+2585del n.722+2585del c.2193del (p.Ile731MetfsTer23) c.1890del (p.Ile630MetfsTer23) c.2118del (p.Ile706MetfsTer23) n.4606del n.5262del n.5722del | COSMIC |
| 7 | g.148807670G>A | CA4547658 | EZH2 | n.4132C>T c.*1294C>T (n.*1294C>T) c.*1128C>T (n.*1128C>T) n.3951C>T n.4219C>T n.2548C>T n.2610C>T c.2232C>T (p.Ile744=) c.2100C>T (p.Ile700=) c.2217C>T (p.Ile739=) c.2064C>T (p.Ile688=) c.2190C>T (p.Ile730=) c.*2222C>T (n.*2222C>T) c.2241C>T (p.Ile747=) c.2214C>T (p.Ile738=) c.2088C>T (p.Ile696=) c.2256C>T (p.Ile752=) c.2229C>T (p.Ile743=) c.2208C>T (p.Ile736=) c.2205C>T (p.Ile735=) c.2166C>T (p.Ile722=) c.2139C>T (p.Ile713=) c.2133C>T (p.Ile711=) c.2130C>T (p.Ile710=) c.2124C>T (p.Ile708=) c.2115C>T (p.Ile705=) c.2112C>T (p.Ile704=) c.1998C>T (p.Ile666=) c.1905C>T (p.Ile635=) n.515+2585G>A n.722+2585G>A c.2193C>T (p.Ile731=) c.1890C>T (p.Ile630=) c.2118C>T (p.Ile706=) n.4606C>T n.5262C>T n.5722C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.148807670G>C | CA369711784 | EZH2 | n.4132C>G c.*1294C>G (n.*1294C>G) c.*1128C>G (n.*1128C>G) n.3951C>G n.4219C>G n.2548C>G n.2610C>G c.2232C>G (p.Ile744Met) c.2100C>G (p.Ile700Met) c.2217C>G (p.Ile739Met) c.2064C>G (p.Ile688Met) c.2190C>G (p.Ile730Met) c.*2222C>G (n.*2222C>G) c.2241C>G (p.Ile747Met) c.2214C>G (p.Ile738Met) c.2088C>G (p.Ile696Met) c.2256C>G (p.Ile752Met) c.2229C>G (p.Ile743Met) c.2208C>G (p.Ile736Met) c.2205C>G (p.Ile735Met) c.2166C>G (p.Ile722Met) c.2139C>G (p.Ile713Met) c.2133C>G (p.Ile711Met) c.2130C>G (p.Ile710Met) c.2124C>G (p.Ile708Met) c.2115C>G (p.Ile705Met) c.2112C>G (p.Ile704Met) c.1998C>G (p.Ile666Met) c.1905C>G (p.Ile635Met) n.515+2585G>C n.722+2585G>C c.2193C>G (p.Ile731Met) c.1890C>G (p.Ile630Met) c.2118C>G (p.Ile706Met) n.4606C>G n.5262C>G n.5722C>G | dbSNP |
| 7 | g.148807670G= | CA1751419304 | EZH2 | n.4132C= c.*1294C= (n.*1294C=) c.*1128C= (n.*1128C=) n.3951C= n.4219C= n.2548C= n.2610C= c.2232C= (p.Ile744=) c.2100C= (p.Ile700=) c.2217C= (p.Ile739=) c.2064C= (p.Ile688=) c.2190C= (p.Ile730=) c.*2222C= (n.*2222C=) c.2241C= (p.Ile747=) c.2214C= (p.Ile738=) c.2088C= (p.Ile696=) c.2256C= (p.Ile752=) c.2229C= (p.Ile743=) c.2208C= (p.Ile736=) c.2205C= (p.Ile735=) c.2166C= (p.Ile722=) c.2139C= (p.Ile713=) c.2133C= (p.Ile711=) c.2130C= (p.Ile710=) c.2124C= (p.Ile708=) c.2115C= (p.Ile705=) c.2112C= (p.Ile704=) c.1998C= (p.Ile666=) c.1905C= (p.Ile635=) n.515+2585G= n.722+2585G= c.2193C= (p.Ile731=) c.1890C= (p.Ile630=) c.2118C= (p.Ile706=) n.4606C= n.5262C= n.5722C= | |
| 7 | g.148807670G>T | CA458345620 | EZH2 | n.4132C>A c.*1294C>A (n.*1294C>A) c.*1128C>A (n.*1128C>A) n.3951C>A n.4219C>A n.2548C>A n.2610C>A c.2232C>A (p.Ile744=) c.2100C>A (p.Ile700=) c.2217C>A (p.Ile739=) c.2064C>A (p.Ile688=) c.2190C>A (p.Ile730=) c.*2222C>A (n.*2222C>A) c.2241C>A (p.Ile747=) c.2214C>A (p.Ile738=) c.2088C>A (p.Ile696=) c.2256C>A (p.Ile752=) c.2229C>A (p.Ile743=) c.2208C>A (p.Ile736=) c.2205C>A (p.Ile735=) c.2166C>A (p.Ile722=) c.2139C>A (p.Ile713=) c.2133C>A (p.Ile711=) c.2130C>A (p.Ile710=) c.2124C>A (p.Ile708=) c.2115C>A (p.Ile705=) c.2112C>A (p.Ile704=) c.1998C>A (p.Ile666=) c.1905C>A (p.Ile635=) n.515+2585G>T n.722+2585G>T c.2193C>A (p.Ile731=) c.1890C>A (p.Ile630=) c.2118C>A (p.Ile706=) n.4606C>A n.5262C>A n.5722C>A | gnomAD v4 |
| 7 | g.148807671_148807673dup | CA645563920 | EZH2 | n.4130_4132dup c.*1292_*1294dup (n.*1292_*1294dup) c.*1126_*1128dup (n.*1126_*1128dup) n.3949_3951dup n.4217_4219dup n.2546_2548dup n.2608_2610dup c.2230_2232dup (p.Ile744_Glu745insIle) c.2098_2100dup (p.Ile700_Glu701insIle) c.2215_2217dup (p.Ile739_Glu740insIle) c.2062_2064dup (p.Ile688_Glu689insIle) c.2188_2190dup (p.Ile730_Glu731insIle) c.*2220_*2222dup (n.*2220_*2222dup) c.2239_2241dup (p.Ile747_Glu748insIle) c.2212_2214dup (p.Ile738_Glu739insIle) c.2086_2088dup (p.Ile696_Glu697insIle) c.2254_2256dup (p.Ile752_Glu753insIle) c.2227_2229dup (p.Ile743_Glu744insIle) c.2206_2208dup (p.Ile736_Glu737insIle) c.2203_2205dup (p.Ile735_Glu736insIle) c.2164_2166dup (p.Ile722_Glu723insIle) c.2137_2139dup (p.Ile713_Glu714insIle) c.2131_2133dup (p.Ile711_Glu712insIle) c.2128_2130dup (p.Ile710_Glu711insIle) c.2122_2124dup (p.Ile708_Glu709insIle) c.2113_2115dup (p.Ile705_Glu706insIle) c.2110_2112dup (p.Ile704_Glu705insIle) c.1996_1998dup (p.Ile666_Glu667insIle) c.1903_1905dup (p.Ile635_Glu636insIle) n.515+2586_515+2588dup n.722+2586_722+2588dup c.2191_2193dup (p.Ile731_Glu732insIle) c.1888_1890dup (p.Ile630_Glu631insIle) c.2116_2118dup (p.Ile706_Glu707insIle) n.4604_4606dup n.5260_5262dup n.5720_5722dup | COSMIC |
| 7 | g.148807670_148807671insT | CA645563921 | EZH2 | n.4131_4132insA c.*1293_*1294insA (n.*1293_*1294insA) c.*1127_*1128insA (n.*1127_*1128insA) n.3950_3951insA n.4218_4219insA n.2547_2548insA n.2609_2610insA c.2231_2232insA (p.Glu745ArgfsTer18) c.2099_2100insA (p.Glu701ArgfsTer18) c.2216_2217insA (p.Glu740ArgfsTer18) c.2063_2064insA (p.Glu689ArgfsTer18) c.2189_2190insA (p.Glu731ArgfsTer18) c.*2221_*2222insA (n.*2221_*2222insA) c.2240_2241insA (p.Glu748ArgfsTer18) c.2213_2214insA (p.Glu739ArgfsTer18) c.2087_2088insA (p.Glu697ArgfsTer18) c.2255_2256insA (p.Glu753ArgfsTer18) c.2228_2229insA (p.Glu744ArgfsTer18) c.2207_2208insA (p.Glu737ArgfsTer18) c.2204_2205insA (p.Glu736ArgfsTer18) c.2165_2166insA (p.Glu723ArgfsTer18) c.2138_2139insA (p.Glu714ArgfsTer18) c.2132_2133insA (p.Glu712ArgfsTer18) c.2129_2130insA (p.Glu711ArgfsTer18) c.2123_2124insA (p.Glu709ArgfsTer18) c.2114_2115insA (p.Glu706ArgfsTer18) c.2111_2112insA (p.Glu705ArgfsTer18) c.1997_1998insA (p.Glu667ArgfsTer18) c.1904_1905insA (p.Glu636ArgfsTer18) n.515+2585_515+2586insT n.722+2585_722+2586insT c.2192_2193insA (p.Glu732ArgfsTer18) c.1889_1890insA (p.Glu631ArgfsTer18) c.2117_2118insA (p.Glu707ArgfsTer18) n.4605_4606insA n.5261_5262insA n.5721_5722insA | COSMIC COSMIC |
| 7 | g.148807671A>C | CA369711785 | EZH2 | n.4131T>G c.*1293T>G (n.*1293T>G) c.*1127T>G (n.*1127T>G) n.3950T>G n.4218T>G n.2547T>G n.2609T>G c.2231T>G (p.Ile744Ser) c.2099T>G (p.Ile700Ser) c.2216T>G (p.Ile739Ser) c.2063T>G (p.Ile688Ser) c.2189T>G (p.Ile730Ser) c.*2221T>G (n.*2221T>G) c.2240T>G (p.Ile747Ser) c.2213T>G (p.Ile738Ser) c.2087T>G (p.Ile696Ser) c.2255T>G (p.Ile752Ser) c.2228T>G (p.Ile743Ser) c.2207T>G (p.Ile736Ser) c.2204T>G (p.Ile735Ser) c.2165T>G (p.Ile722Ser) c.2138T>G (p.Ile713Ser) c.2132T>G (p.Ile711Ser) c.2129T>G (p.Ile710Ser) c.2123T>G (p.Ile708Ser) c.2114T>G (p.Ile705Ser) c.2111T>G (p.Ile704Ser) c.1997T>G (p.Ile666Ser) c.1904T>G (p.Ile635Ser) n.515+2586A>C n.722+2586A>C c.2192T>G (p.Ile731Ser) c.1889T>G (p.Ile630Ser) c.2117T>G (p.Ile706Ser) n.4605T>G n.5261T>G n.5721T>G | |
| 7 | g.148807671A>G | CA369711786 | EZH2 | n.4131T>C c.*1293T>C (n.*1293T>C) c.*1127T>C (n.*1127T>C) n.3950T>C n.4218T>C n.2547T>C n.2609T>C c.2231T>C (p.Ile744Thr) c.2099T>C (p.Ile700Thr) c.2216T>C (p.Ile739Thr) c.2063T>C (p.Ile688Thr) c.2189T>C (p.Ile730Thr) c.*2221T>C (n.*2221T>C) c.2240T>C (p.Ile747Thr) c.2213T>C (p.Ile738Thr) c.2087T>C (p.Ile696Thr) c.2255T>C (p.Ile752Thr) c.2228T>C (p.Ile743Thr) c.2207T>C (p.Ile736Thr) c.2204T>C (p.Ile735Thr) c.2165T>C (p.Ile722Thr) c.2138T>C (p.Ile713Thr) c.2132T>C (p.Ile711Thr) c.2129T>C (p.Ile710Thr) c.2123T>C (p.Ile708Thr) c.2114T>C (p.Ile705Thr) c.2111T>C (p.Ile704Thr) c.1997T>C (p.Ile666Thr) c.1904T>C (p.Ile635Thr) n.515+2586A>G n.722+2586A>G c.2192T>C (p.Ile731Thr) c.1889T>C (p.Ile630Thr) c.2117T>C (p.Ile706Thr) n.4605T>C n.5261T>C n.5721T>C | |
| 7 | g.148807671A>T | CA369711787 | EZH2 | n.4131T>A c.*1293T>A (n.*1293T>A) c.*1127T>A (n.*1127T>A) n.3950T>A n.4218T>A n.2547T>A n.2609T>A c.2231T>A (p.Ile744Asn) c.2099T>A (p.Ile700Asn) c.2216T>A (p.Ile739Asn) c.2063T>A (p.Ile688Asn) c.2189T>A (p.Ile730Asn) c.*2221T>A (n.*2221T>A) c.2240T>A (p.Ile747Asn) c.2213T>A (p.Ile738Asn) c.2087T>A (p.Ile696Asn) c.2255T>A (p.Ile752Asn) c.2228T>A (p.Ile743Asn) c.2207T>A (p.Ile736Asn) c.2204T>A (p.Ile735Asn) c.2165T>A (p.Ile722Asn) c.2138T>A (p.Ile713Asn) c.2132T>A (p.Ile711Asn) c.2129T>A (p.Ile710Asn) c.2123T>A (p.Ile708Asn) c.2114T>A (p.Ile705Asn) c.2111T>A (p.Ile704Asn) c.1997T>A (p.Ile666Asn) c.1904T>A (p.Ile635Asn) n.515+2586A>T n.722+2586A>T c.2192T>A (p.Ile731Asn) c.1889T>A (p.Ile630Asn) c.2117T>A (p.Ile706Asn) n.4605T>A n.5261T>A n.5721T>A | |
| 7 | g.148807671_148807672insATGCA | CA645563925 | EZH2 | n.4131_4132insGCATT c.*1293_*1294insGCATT (n.*1293_*1294insGCATT) c.*1127_*1128insGCATT (n.*1127_*1128insGCATT) n.3950_3951insGCATT n.4218_4219insGCATT n.2547_2548insGCATT n.2609_2610insGCATT c.2231_2232insGCATT (p.Ile744MetfsTer25) c.2099_2100insGCATT (p.Ile700MetfsTer25) c.2216_2217insGCATT (p.Ile739MetfsTer25) c.2063_2064insGCATT (p.Ile688MetfsTer25) c.2189_2190insGCATT (p.Ile730MetfsTer25) c.*2221_*2222insGCATT (n.*2221_*2222insGCATT) c.2240_2241insGCATT (p.Ile747MetfsTer25) c.2213_2214insGCATT (p.Ile738MetfsTer25) c.2087_2088insGCATT (p.Ile696MetfsTer25) c.2255_2256insGCATT (p.Ile752MetfsTer25) c.2228_2229insGCATT (p.Ile743MetfsTer25) c.2207_2208insGCATT (p.Ile736MetfsTer25) c.2204_2205insGCATT (p.Ile735MetfsTer25) c.2165_2166insGCATT (p.Ile722MetfsTer25) c.2138_2139insGCATT (p.Ile713MetfsTer25) c.2132_2133insGCATT (p.Ile711MetfsTer25) c.2129_2130insGCATT (p.Ile710MetfsTer25) c.2123_2124insGCATT (p.Ile708MetfsTer25) c.2114_2115insGCATT (p.Ile705MetfsTer25) c.2111_2112insGCATT (p.Ile704MetfsTer25) c.1997_1998insGCATT (p.Ile666MetfsTer25) c.1904_1905insGCATT (p.Ile635MetfsTer25) n.515+2586_515+2587insATGCA n.722+2586_722+2587insATGCA c.2192_2193insGCATT (p.Ile731MetfsTer25) c.1889_1890insGCATT (p.Ile630MetfsTer25) c.2117_2118insGCATT (p.Ile706MetfsTer25) n.4605_4606insGCATT n.5261_5262insGCATT n.5721_5722insGCATT | COSMIC COSMIC |
| 7 | g.148807674_148807675insAATGC | CA645563923 | EZH2 | n.4131_4132insTGCAT c.*1293_*1294insTGCAT (n.*1293_*1294insTGCAT) c.*1127_*1128insTGCAT (n.*1127_*1128insTGCAT) n.3950_3951insTGCAT n.4218_4219insTGCAT n.2547_2548insTGCAT n.2609_2610insTGCAT c.2231_2232insTGCAT (p.Glu745AlafsTer24) c.2099_2100insTGCAT (p.Glu701AlafsTer24) c.2216_2217insTGCAT (p.Glu740AlafsTer24) c.2063_2064insTGCAT (p.Glu689AlafsTer24) c.2189_2190insTGCAT (p.Glu731AlafsTer24) c.*2221_*2222insTGCAT (n.*2221_*2222insTGCAT) c.2240_2241insTGCAT (p.Glu748AlafsTer24) c.2213_2214insTGCAT (p.Glu739AlafsTer24) c.2087_2088insTGCAT (p.Glu697AlafsTer24) c.2255_2256insTGCAT (p.Glu753AlafsTer24) c.2228_2229insTGCAT (p.Glu744AlafsTer24) c.2207_2208insTGCAT (p.Glu737AlafsTer24) c.2204_2205insTGCAT (p.Glu736AlafsTer24) c.2165_2166insTGCAT (p.Glu723AlafsTer24) c.2138_2139insTGCAT (p.Glu714AlafsTer24) c.2132_2133insTGCAT (p.Glu712AlafsTer24) c.2129_2130insTGCAT (p.Glu711AlafsTer24) c.2123_2124insTGCAT (p.Glu709AlafsTer24) c.2114_2115insTGCAT (p.Glu706AlafsTer24) c.2111_2112insTGCAT (p.Glu705AlafsTer24) c.1997_1998insTGCAT (p.Glu667AlafsTer24) c.1904_1905insTGCAT (p.Glu636AlafsTer24) n.515+2589_515+2590insAATGC n.722+2589_722+2590insAATGC c.2192_2193insTGCAT (p.Glu732AlafsTer24) c.1889_1890insTGCAT (p.Glu631AlafsTer24) c.2117_2118insTGCAT (p.Glu707AlafsTer24) n.4605_4606insTGCAT n.5261_5262insTGCAT n.5721_5722insTGCAT | COSMIC COSMIC |
| 7 | g.148807671_148807675dup | CA645563922 | EZH2 | n.4127_4131dup c.*1289_*1293dup (n.*1289_*1293dup) c.*1123_*1127dup (n.*1123_*1127dup) n.3946_3950dup n.4214_4218dup n.2543_2547dup n.2605_2609dup c.2227_2231dup (p.Ile744MetfsTer25) c.2095_2099dup (p.Ile700MetfsTer25) c.2212_2216dup (p.Ile739MetfsTer25) c.2059_2063dup (p.Ile688MetfsTer25) c.2185_2189dup (p.Ile730MetfsTer25) c.*2217_*2221dup (n.*2217_*2221dup) c.2236_2240dup (p.Ile747MetfsTer25) c.2209_2213dup (p.Ile738MetfsTer25) c.2083_2087dup (p.Ile696MetfsTer25) c.2251_2255dup (p.Ile752MetfsTer25) c.2224_2228dup (p.Ile743MetfsTer25) c.2203_2207dup (p.Ile736MetfsTer25) c.2200_2204dup (p.Ile735MetfsTer25) c.2161_2165dup (p.Ile722MetfsTer25) c.2134_2138dup (p.Ile713MetfsTer25) c.2128_2132dup (p.Ile711MetfsTer25) c.2125_2129dup (p.Ile710MetfsTer25) c.2119_2123dup (p.Ile708MetfsTer25) c.2110_2114dup (p.Ile705MetfsTer25) c.2107_2111dup (p.Ile704MetfsTer25) c.1993_1997dup (p.Ile666MetfsTer25) c.1900_1904dup (p.Ile635MetfsTer25) n.515+2586_515+2590dup n.722+2586_722+2590dup c.2188_2192dup (p.Ile731MetfsTer25) c.1885_1889dup (p.Ile630MetfsTer25) c.2113_2117dup (p.Ile706MetfsTer25) n.4601_4605dup n.5257_5261dup n.5717_5721dup | COSMIC COSMIC |
| 7 | g.148807676_148807677insGTCAGCCATGCCG | CA645563924 | EZH2 | n.4131_4132insGGCTGACCGGCAT c.*1293_*1294insGGCTGACCGGCAT (n.*1293_*1294insGGCTGACCGGCAT) c.*1127_*1128insGGCTGACCGGCAT (n.*1127_*1128insGGCTGACCGGCAT) n.3950_3951insGGCTGACCGGCAT n.4218_4219insGGCTGACCGGCAT n.2547_2548insGGCTGACCGGCAT n.2609_2610insGGCTGACCGGCAT c.2231_2232insGGCTGACCGGCAT (p.Ile744MetfsTer23) c.2099_2100insGGCTGACCGGCAT (p.Ile700MetfsTer23) c.2216_2217insGGCTGACCGGCAT (p.Ile739MetfsTer23) c.2063_2064insGGCTGACCGGCAT (p.Ile688MetfsTer23) c.2189_2190insGGCTGACCGGCAT (p.Ile730MetfsTer23) c.*2221_*2222insGGCTGACCGGCAT (n.*2221_*2222insGGCTGACCGGCAT) c.2240_2241insGGCTGACCGGCAT (p.Ile747MetfsTer23) c.2213_2214insGGCTGACCGGCAT (p.Ile738MetfsTer23) c.2087_2088insGGCTGACCGGCAT (p.Ile696MetfsTer23) c.2255_2256insGGCTGACCGGCAT (p.Ile752MetfsTer23) c.2228_2229insGGCTGACCGGCAT (p.Ile743MetfsTer23) c.2207_2208insGGCTGACCGGCAT (p.Ile736MetfsTer23) c.2204_2205insGGCTGACCGGCAT (p.Ile735MetfsTer23) c.2165_2166insGGCTGACCGGCAT (p.Ile722MetfsTer23) c.2138_2139insGGCTGACCGGCAT (p.Ile713MetfsTer23) c.2132_2133insGGCTGACCGGCAT (p.Ile711MetfsTer23) c.2129_2130insGGCTGACCGGCAT (p.Ile710MetfsTer23) c.2123_2124insGGCTGACCGGCAT (p.Ile708MetfsTer23) c.2114_2115insGGCTGACCGGCAT (p.Ile705MetfsTer23) c.2111_2112insGGCTGACCGGCAT (p.Ile704MetfsTer23) c.1997_1998insGGCTGACCGGCAT (p.Ile666MetfsTer23) c.1904_1905insGGCTGACCGGCAT (p.Ile635MetfsTer23) n.515+2591_515+2592insGTCAGCCATGCCG n.722+2591_722+2592insGTCAGCCATGCCG c.2192_2193insGGCTGACCGGCAT (p.Ile731MetfsTer23) c.1889_1890insGGCTGACCGGCAT (p.Ile630MetfsTer23) c.2117_2118insGGCTGACCGGCAT (p.Ile706MetfsTer23) n.4605_4606insGGCTGACCGGCAT n.5261_5262insGGCTGACCGGCAT n.5721_5722insGGCTGACCGGCAT | COSMIC |
| 7 | g.148807672T>A | CA369711790 | EZH2 | n.4130A>T c.*1292A>T (n.*1292A>T) c.*1126A>T (n.*1126A>T) n.3949A>T n.4217A>T n.2546A>T n.2608A>T c.2230A>T (p.Ile744Phe) c.2098A>T (p.Ile700Phe) c.2215A>T (p.Ile739Phe) c.2062A>T (p.Ile688Phe) c.2188A>T (p.Ile730Phe) c.*2220A>T (n.*2220A>T) c.2239A>T (p.Ile747Phe) c.2212A>T (p.Ile738Phe) c.2086A>T (p.Ile696Phe) c.2254A>T (p.Ile752Phe) c.2227A>T (p.Ile743Phe) c.2206A>T (p.Ile736Phe) c.2203A>T (p.Ile735Phe) c.2164A>T (p.Ile722Phe) c.2137A>T (p.Ile713Phe) c.2131A>T (p.Ile711Phe) c.2128A>T (p.Ile710Phe) c.2122A>T (p.Ile708Phe) c.2113A>T (p.Ile705Phe) c.2110A>T (p.Ile704Phe) c.1996A>T (p.Ile666Phe) c.1903A>T (p.Ile635Phe) n.515+2587T>A n.722+2587T>A c.2191A>T (p.Ile731Phe) c.1888A>T (p.Ile630Phe) c.2116A>T (p.Ile706Phe) n.4604A>T n.5260A>T n.5720A>T | gnomAD v4 |
| 7 | g.148807672T>C | CA369711788 | EZH2 | n.4130A>G c.*1292A>G (n.*1292A>G) c.*1126A>G (n.*1126A>G) n.3949A>G n.4217A>G n.2546A>G n.2608A>G c.2230A>G (p.Ile744Val) c.2098A>G (p.Ile700Val) c.2215A>G (p.Ile739Val) c.2062A>G (p.Ile688Val) c.2188A>G (p.Ile730Val) c.*2220A>G (n.*2220A>G) c.2239A>G (p.Ile747Val) c.2212A>G (p.Ile738Val) c.2086A>G (p.Ile696Val) c.2254A>G (p.Ile752Val) c.2227A>G (p.Ile743Val) c.2206A>G (p.Ile736Val) c.2203A>G (p.Ile735Val) c.2164A>G (p.Ile722Val) c.2137A>G (p.Ile713Val) c.2131A>G (p.Ile711Val) c.2128A>G (p.Ile710Val) c.2122A>G (p.Ile708Val) c.2113A>G (p.Ile705Val) c.2110A>G (p.Ile704Val) c.1996A>G (p.Ile666Val) c.1903A>G (p.Ile635Val) n.515+2587T>C n.722+2587T>C c.2191A>G (p.Ile731Val) c.1888A>G (p.Ile630Val) c.2116A>G (p.Ile706Val) n.4604A>G n.5260A>G n.5720A>G | |
| 7 | g.148807672T>G | CA369711789 | EZH2 | n.4130A>C c.*1292A>C (n.*1292A>C) c.*1126A>C (n.*1126A>C) n.3949A>C n.4217A>C n.2546A>C n.2608A>C c.2230A>C (p.Ile744Leu) c.2098A>C (p.Ile700Leu) c.2215A>C (p.Ile739Leu) c.2062A>C (p.Ile688Leu) c.2188A>C (p.Ile730Leu) c.*2220A>C (n.*2220A>C) c.2239A>C (p.Ile747Leu) c.2212A>C (p.Ile738Leu) c.2086A>C (p.Ile696Leu) c.2254A>C (p.Ile752Leu) c.2227A>C (p.Ile743Leu) c.2206A>C (p.Ile736Leu) c.2203A>C (p.Ile735Leu) c.2164A>C (p.Ile722Leu) c.2137A>C (p.Ile713Leu) c.2131A>C (p.Ile711Leu) c.2128A>C (p.Ile710Leu) c.2122A>C (p.Ile708Leu) c.2113A>C (p.Ile705Leu) c.2110A>C (p.Ile704Leu) c.1996A>C (p.Ile666Leu) c.1903A>C (p.Ile635Leu) n.515+2587T>G n.722+2587T>G c.2191A>C (p.Ile731Leu) c.1888A>C (p.Ile630Leu) c.2116A>C (p.Ile706Leu) n.4604A>C n.5260A>C n.5720A>C | |
| 7 | g.148807673G>A | CA458345621 | EZH2 | n.4129C>T c.*1291C>T (n.*1291C>T) c.*1125C>T (n.*1125C>T) n.3948C>T n.4216C>T n.2545C>T n.2607C>T c.2229C>T (p.Gly743=) c.2097C>T (p.Gly699=) c.2214C>T (p.Gly738=) c.2061C>T (p.Gly687=) c.2187C>T (p.Gly729=) c.*2219C>T (n.*2219C>T) c.2238C>T (p.Gly746=) c.2211C>T (p.Gly737=) c.2085C>T (p.Gly695=) c.2253C>T (p.Gly751=) c.2226C>T (p.Gly742=) c.2205C>T (p.Gly735=) c.2202C>T (p.Gly734=) c.2163C>T (p.Gly721=) c.2136C>T (p.Gly712=) c.2130C>T (p.Gly710=) c.2127C>T (p.Gly709=) c.2121C>T (p.Gly707=) c.2112C>T (p.Gly704=) c.2109C>T (p.Gly703=) c.1995C>T (p.Gly665=) c.1902C>T (p.Gly634=) n.515+2588G>A n.722+2588G>A c.2190C>T (p.Gly730=) c.1887C>T (p.Gly629=) c.2115C>T (p.Gly705=) n.4603C>T n.5259C>T n.5719C>T | dbSNP gnomAD v4 |
| 7 | g.148807673G>C | CA458345622 | EZH2 | n.4129C>G c.*1291C>G (n.*1291C>G) c.*1125C>G (n.*1125C>G) n.3948C>G n.4216C>G n.2545C>G n.2607C>G c.2229C>G (p.Gly743=) c.2097C>G (p.Gly699=) c.2214C>G (p.Gly738=) c.2061C>G (p.Gly687=) c.2187C>G (p.Gly729=) c.*2219C>G (n.*2219C>G) c.2238C>G (p.Gly746=) c.2211C>G (p.Gly737=) c.2085C>G (p.Gly695=) c.2253C>G (p.Gly751=) c.2226C>G (p.Gly742=) c.2205C>G (p.Gly735=) c.2202C>G (p.Gly734=) c.2163C>G (p.Gly721=) c.2136C>G (p.Gly712=) c.2130C>G (p.Gly710=) c.2127C>G (p.Gly709=) c.2121C>G (p.Gly707=) c.2112C>G (p.Gly704=) c.2109C>G (p.Gly703=) c.1995C>G (p.Gly665=) c.1902C>G (p.Gly634=) n.515+2588G>C n.722+2588G>C c.2190C>G (p.Gly730=) c.1887C>G (p.Gly629=) c.2115C>G (p.Gly705=) n.4603C>G n.5259C>G n.5719C>G | dbSNP |
| 7 | g.148807673G>T | CA458345623 | EZH2 | n.4129C>A c.*1291C>A (n.*1291C>A) c.*1125C>A (n.*1125C>A) n.3948C>A n.4216C>A n.2545C>A n.2607C>A c.2229C>A (p.Gly743=) c.2097C>A (p.Gly699=) c.2214C>A (p.Gly738=) c.2061C>A (p.Gly687=) c.2187C>A (p.Gly729=) c.*2219C>A (n.*2219C>A) c.2238C>A (p.Gly746=) c.2211C>A (p.Gly737=) c.2085C>A (p.Gly695=) c.2253C>A (p.Gly751=) c.2226C>A (p.Gly742=) c.2205C>A (p.Gly735=) c.2202C>A (p.Gly734=) c.2163C>A (p.Gly721=) c.2136C>A (p.Gly712=) c.2130C>A (p.Gly710=) c.2127C>A (p.Gly709=) c.2121C>A (p.Gly707=) c.2112C>A (p.Gly704=) c.2109C>A (p.Gly703=) c.1995C>A (p.Gly665=) c.1902C>A (p.Gly634=) n.515+2588G>T n.722+2588G>T c.2190C>A (p.Gly730=) c.1887C>A (p.Gly629=) c.2115C>A (p.Gly705=) n.4603C>A n.5259C>A n.5719C>A | gnomAD v4 |
| 7 | g.148807675_148807676insCCCGCC | CA645563926 | EZH2 | n.4129_4130insGGGGGC c.*1291_*1292insGGGGGC (n.*1291_*1292insGGGGGC) c.*1125_*1126insGGGGGC (n.*1125_*1126insGGGGGC) n.3948_3949insGGGGGC n.4216_4217insGGGGGC n.2545_2546insGGGGGC n.2607_2608insGGGGGC c.2229_2230insGGGGGC (p.Gly743_Ile744insGlyGly) c.2097_2098insGGGGGC (p.Gly699_Ile700insGlyGly) c.2214_2215insGGGGGC (p.Gly738_Ile739insGlyGly) c.2061_2062insGGGGGC (p.Gly687_Ile688insGlyGly) c.2187_2188insGGGGGC (p.Gly729_Ile730insGlyGly) c.*2219_*2220insGGGGGC (n.*2219_*2220insGGGGGC) c.2238_2239insGGGGGC (p.Gly746_Ile747insGlyGly) c.2211_2212insGGGGGC (p.Gly737_Ile738insGlyGly) c.2085_2086insGGGGGC (p.Gly695_Ile696insGlyGly) c.2253_2254insGGGGGC (p.Gly751_Ile752insGlyGly) c.2226_2227insGGGGGC (p.Gly742_Ile743insGlyGly) c.2205_2206insGGGGGC (p.Gly735_Ile736insGlyGly) c.2202_2203insGGGGGC (p.Gly734_Ile735insGlyGly) c.2163_2164insGGGGGC (p.Gly721_Ile722insGlyGly) c.2136_2137insGGGGGC (p.Gly712_Ile713insGlyGly) c.2130_2131insGGGGGC (p.Gly710_Ile711insGlyGly) c.2127_2128insGGGGGC (p.Gly709_Ile710insGlyGly) c.2121_2122insGGGGGC (p.Gly707_Ile708insGlyGly) c.2112_2113insGGGGGC (p.Gly704_Ile705insGlyGly) c.2109_2110insGGGGGC (p.Gly703_Ile704insGlyGly) c.1995_1996insGGGGGC (p.Gly665_Ile666insGlyGly) c.1902_1903insGGGGGC (p.Gly634_Ile635insGlyGly) n.515+2590_515+2591insCCCGCC n.722+2590_722+2591insCCCGCC c.2190_2191insGGGGGC (p.Gly730_Ile731insGlyGly) c.1887_1888insGGGGGC (p.Gly629_Ile630insGlyGly) c.2115_2116insGGGGGC (p.Gly705_Ile706insGlyGly) n.4603_4604insGGGGGC n.5259_5260insGGGGGC n.5719_5720insGGGGGC | COSMIC |
| 7 | g.148807674C>A | CA369711791 | EZH2 | n.4128G>T c.*1290G>T (n.*1290G>T) c.*1124G>T (n.*1124G>T) n.3947G>T n.4215G>T n.2544G>T n.2606G>T c.2228G>T (p.Gly743Val) c.2096G>T (p.Gly699Val) c.2213G>T (p.Gly738Val) c.2060G>T (p.Gly687Val) c.2186G>T (p.Gly729Val) c.*2218G>T (n.*2218G>T) c.2237G>T (p.Gly746Val) c.2210G>T (p.Gly737Val) c.2084G>T (p.Gly695Val) c.2252G>T (p.Gly751Val) c.2225G>T (p.Gly742Val) c.2204G>T (p.Gly735Val) c.2201G>T (p.Gly734Val) c.2162G>T (p.Gly721Val) c.2135G>T (p.Gly712Val) c.2129G>T (p.Gly710Val) c.2126G>T (p.Gly709Val) c.2120G>T (p.Gly707Val) c.2111G>T (p.Gly704Val) c.2108G>T (p.Gly703Val) c.1994G>T (p.Gly665Val) c.1901G>T (p.Gly634Val) n.515+2589C>A n.722+2589C>A c.2189G>T (p.Gly730Val) c.1886G>T (p.Gly629Val) c.2114G>T (p.Gly705Val) n.4602G>T n.5258G>T n.5718G>T | dbSNP gnomAD v4 |
| 7 | g.148807674C>G | CA369711792 | EZH2 | n.4128G>C c.*1290G>C (n.*1290G>C) c.*1124G>C (n.*1124G>C) n.3947G>C n.4215G>C n.2544G>C n.2606G>C c.2228G>C (p.Gly743Ala) c.2096G>C (p.Gly699Ala) c.2213G>C (p.Gly738Ala) c.2060G>C (p.Gly687Ala) c.2186G>C (p.Gly729Ala) c.*2218G>C (n.*2218G>C) c.2237G>C (p.Gly746Ala) c.2210G>C (p.Gly737Ala) c.2084G>C (p.Gly695Ala) c.2252G>C (p.Gly751Ala) c.2225G>C (p.Gly742Ala) c.2204G>C (p.Gly735Ala) c.2201G>C (p.Gly734Ala) c.2162G>C (p.Gly721Ala) c.2135G>C (p.Gly712Ala) c.2129G>C (p.Gly710Ala) c.2126G>C (p.Gly709Ala) c.2120G>C (p.Gly707Ala) c.2111G>C (p.Gly704Ala) c.2108G>C (p.Gly703Ala) c.1994G>C (p.Gly665Ala) c.1901G>C (p.Gly634Ala) n.515+2589C>G n.722+2589C>G c.2189G>C (p.Gly730Ala) c.1886G>C (p.Gly629Ala) c.2114G>C (p.Gly705Ala) n.4602G>C n.5258G>C n.5718G>C | |
| 7 | g.148807674C>T | CA369711793 | EZH2 | n.4128G>A c.*1290G>A (n.*1290G>A) c.*1124G>A (n.*1124G>A) n.3947G>A n.4215G>A n.2544G>A n.2606G>A c.2228G>A (p.Gly743Asp) c.2096G>A (p.Gly699Asp) c.2213G>A (p.Gly738Asp) c.2060G>A (p.Gly687Asp) c.2186G>A (p.Gly729Asp) c.*2218G>A (n.*2218G>A) c.2237G>A (p.Gly746Asp) c.2210G>A (p.Gly737Asp) c.2084G>A (p.Gly695Asp) c.2252G>A (p.Gly751Asp) c.2225G>A (p.Gly742Asp) c.2204G>A (p.Gly735Asp) c.2201G>A (p.Gly734Asp) c.2162G>A (p.Gly721Asp) c.2135G>A (p.Gly712Asp) c.2129G>A (p.Gly710Asp) c.2126G>A (p.Gly709Asp) c.2120G>A (p.Gly707Asp) c.2111G>A (p.Gly704Asp) c.2108G>A (p.Gly703Asp) c.1994G>A (p.Gly665Asp) c.1901G>A (p.Gly634Asp) n.515+2589C>T n.722+2589C>T c.2189G>A (p.Gly730Asp) c.1886G>A (p.Gly629Asp) c.2114G>A (p.Gly705Asp) n.4602G>A n.5258G>A n.5718G>A | dbSNP gnomAD v4 |
| 7 | g.148807674_148807675insACC | CA645563928 | EZH2 | n.4128_4129insGTG c.*1290_*1291insGTG (n.*1290_*1291insGTG) c.*1124_*1125insGTG (n.*1124_*1125insGTG) n.3947_3948insGTG n.4215_4216insGTG n.2544_2545insGTG n.2606_2607insGTG c.2228_2229insGTG (p.Gly743_Ile744insCys) c.2096_2097insGTG (p.Gly699_Ile700insCys) c.2213_2214insGTG (p.Gly738_Ile739insCys) c.2060_2061insGTG (p.Gly687_Ile688insCys) c.2186_2187insGTG (p.Gly729_Ile730insCys) c.*2218_*2219insGTG (n.*2218_*2219insGTG) c.2237_2238insGTG (p.Gly746_Ile747insCys) c.2210_2211insGTG (p.Gly737_Ile738insCys) c.2084_2085insGTG (p.Gly695_Ile696insCys) c.2252_2253insGTG (p.Gly751_Ile752insCys) c.2225_2226insGTG (p.Gly742_Ile743insCys) c.2204_2205insGTG (p.Gly735_Ile736insCys) c.2201_2202insGTG (p.Gly734_Ile735insCys) c.2162_2163insGTG (p.Gly721_Ile722insCys) c.2135_2136insGTG (p.Gly712_Ile713insCys) c.2129_2130insGTG (p.Gly710_Ile711insCys) c.2126_2127insGTG (p.Gly709_Ile710insCys) c.2120_2121insGTG (p.Gly707_Ile708insCys) c.2111_2112insGTG (p.Gly704_Ile705insCys) c.2108_2109insGTG (p.Gly703_Ile704insCys) c.1994_1995insGTG (p.Gly665_Ile666insCys) c.1901_1902insGTG (p.Gly634_Ile635insCys) n.515+2589_515+2590insACC n.722+2589_722+2590insACC c.2189_2190insGTG (p.Gly730_Ile731insCys) c.1886_1887insGTG (p.Gly629_Ile630insCys) c.2114_2115insGTG (p.Gly705_Ile706insCys) n.4602_4603insGTG n.5258_5259insGTG n.5718_5719insGTG | COSMIC |
| 7 | g.148807674_148807675insGGGGCC | CA645563929 | EZH2 | n.4128_4129insGCCCCG c.*1290_*1291insGCCCCG (n.*1290_*1291insGCCCCG) c.*1124_*1125insGCCCCG (n.*1124_*1125insGCCCCG) n.3947_3948insGCCCCG n.4215_4216insGCCCCG n.2544_2545insGCCCCG n.2606_2607insGCCCCG c.2228_2229insGCCCCG (p.Gly743_Ile744insProArg) c.2096_2097insGCCCCG (p.Gly699_Ile700insProArg) c.2213_2214insGCCCCG (p.Gly738_Ile739insProArg) c.2060_2061insGCCCCG (p.Gly687_Ile688insProArg) c.2186_2187insGCCCCG (p.Gly729_Ile730insProArg) c.*2218_*2219insGCCCCG (n.*2218_*2219insGCCCCG) c.2237_2238insGCCCCG (p.Gly746_Ile747insProArg) c.2210_2211insGCCCCG (p.Gly737_Ile738insProArg) c.2084_2085insGCCCCG (p.Gly695_Ile696insProArg) c.2252_2253insGCCCCG (p.Gly751_Ile752insProArg) c.2225_2226insGCCCCG (p.Gly742_Ile743insProArg) c.2204_2205insGCCCCG (p.Gly735_Ile736insProArg) c.2201_2202insGCCCCG (p.Gly734_Ile735insProArg) c.2162_2163insGCCCCG (p.Gly721_Ile722insProArg) c.2135_2136insGCCCCG (p.Gly712_Ile713insProArg) c.2129_2130insGCCCCG (p.Gly710_Ile711insProArg) c.2126_2127insGCCCCG (p.Gly709_Ile710insProArg) c.2120_2121insGCCCCG (p.Gly707_Ile708insProArg) c.2111_2112insGCCCCG (p.Gly704_Ile705insProArg) c.2108_2109insGCCCCG (p.Gly703_Ile704insProArg) c.1994_1995insGCCCCG (p.Gly665_Ile666insProArg) c.1901_1902insGCCCCG (p.Gly634_Ile635insProArg) n.515+2589_515+2590insGGGGCC n.722+2589_722+2590insGGGGCC c.2189_2190insGCCCCG (p.Gly730_Ile731insProArg) c.1886_1887insGCCCCG (p.Gly629_Ile630insProArg) c.2114_2115insGCCCCG (p.Gly705_Ile706insProArg) n.4602_4603insGCCCCG n.5258_5259insGCCCCG n.5718_5719insGCCCCG | COSMIC |
| 7 | g.148807676_148807677insGGGCCCG | CA645563927 | EZH2 | n.4128_4129insGCCCCGG c.*1290_*1291insGCCCCGG (n.*1290_*1291insGCCCCGG) c.*1124_*1125insGCCCCGG (n.*1124_*1125insGCCCCGG) n.3947_3948insGCCCCGG n.4215_4216insGCCCCGG n.2544_2545insGCCCCGG n.2606_2607insGCCCCGG c.2228_2229insGCCCCGG (p.Ile744ProfsTer21) c.2096_2097insGCCCCGG (p.Ile700ProfsTer21) c.2213_2214insGCCCCGG (p.Ile739ProfsTer21) c.2060_2061insGCCCCGG (p.Ile688ProfsTer21) c.2186_2187insGCCCCGG (p.Ile730ProfsTer21) c.*2218_*2219insGCCCCGG (n.*2218_*2219insGCCCCGG) c.2237_2238insGCCCCGG (p.Ile747ProfsTer21) c.2210_2211insGCCCCGG (p.Ile738ProfsTer21) c.2084_2085insGCCCCGG (p.Ile696ProfsTer21) c.2252_2253insGCCCCGG (p.Ile752ProfsTer21) c.2225_2226insGCCCCGG (p.Ile743ProfsTer21) c.2204_2205insGCCCCGG (p.Ile736ProfsTer21) c.2201_2202insGCCCCGG (p.Ile735ProfsTer21) c.2162_2163insGCCCCGG (p.Ile722ProfsTer21) c.2135_2136insGCCCCGG (p.Ile713ProfsTer21) c.2129_2130insGCCCCGG (p.Ile711ProfsTer21) c.2126_2127insGCCCCGG (p.Ile710ProfsTer21) c.2120_2121insGCCCCGG (p.Ile708ProfsTer21) c.2111_2112insGCCCCGG (p.Ile705ProfsTer21) c.2108_2109insGCCCCGG (p.Ile704ProfsTer21) c.1994_1995insGCCCCGG (p.Ile666ProfsTer21) c.1901_1902insGCCCCGG (p.Ile635ProfsTer21) n.515+2591_515+2592insGGGCCCG n.722+2591_722+2592insGGGCCCG c.2189_2190insGCCCCGG (p.Ile731ProfsTer21) c.1886_1887insGCCCCGG (p.Ile630ProfsTer21) c.2114_2115insGCCCCGG (p.Ile706ProfsTer21) n.4602_4603insGCCCCGG n.5258_5259insGCCCCGG n.5718_5719insGCCCCGG | COSMIC COSMIC |
| 7 | g.148807675C>A | CA369711794 | EZH2 | n.4127G>T c.*1289G>T (n.*1289G>T) c.*1123G>T (n.*1123G>T) n.3946G>T n.4214G>T n.2543G>T n.2605G>T c.2227G>T (p.Gly743Cys) c.2095G>T (p.Gly699Cys) c.2212G>T (p.Gly738Cys) c.2059G>T (p.Gly687Cys) c.2185G>T (p.Gly729Cys) c.*2217G>T (n.*2217G>T) c.2236G>T (p.Gly746Cys) c.2209G>T (p.Gly737Cys) c.2083G>T (p.Gly695Cys) c.2251G>T (p.Gly751Cys) c.2224G>T (p.Gly742Cys) c.2203G>T (p.Gly735Cys) c.2200G>T (p.Gly734Cys) c.2161G>T (p.Gly721Cys) c.2134G>T (p.Gly712Cys) c.2128G>T (p.Gly710Cys) c.2125G>T (p.Gly709Cys) c.2119G>T (p.Gly707Cys) c.2110G>T (p.Gly704Cys) c.2107G>T (p.Gly703Cys) c.1993G>T (p.Gly665Cys) c.1900G>T (p.Gly634Cys) n.515+2590C>A n.722+2590C>A c.2188G>T (p.Gly730Cys) c.1885G>T (p.Gly629Cys) c.2113G>T (p.Gly705Cys) n.4601G>T n.5257G>T n.5717G>T | gnomAD v4 |
| 7 | g.148807675C>G | CA369711795 | EZH2 | n.4127G>C c.*1289G>C (n.*1289G>C) c.*1123G>C (n.*1123G>C) n.3946G>C n.4214G>C n.2543G>C n.2605G>C c.2227G>C (p.Gly743Arg) c.2095G>C (p.Gly699Arg) c.2212G>C (p.Gly738Arg) c.2059G>C (p.Gly687Arg) c.2185G>C (p.Gly729Arg) c.*2217G>C (n.*2217G>C) c.2236G>C (p.Gly746Arg) c.2209G>C (p.Gly737Arg) c.2083G>C (p.Gly695Arg) c.2251G>C (p.Gly751Arg) c.2224G>C (p.Gly742Arg) c.2203G>C (p.Gly735Arg) c.2200G>C (p.Gly734Arg) c.2161G>C (p.Gly721Arg) c.2134G>C (p.Gly712Arg) c.2128G>C (p.Gly710Arg) c.2125G>C (p.Gly709Arg) c.2119G>C (p.Gly707Arg) c.2110G>C (p.Gly704Arg) c.2107G>C (p.Gly703Arg) c.1993G>C (p.Gly665Arg) c.1900G>C (p.Gly634Arg) n.515+2590C>G n.722+2590C>G c.2188G>C (p.Gly730Arg) c.1885G>C (p.Gly629Arg) c.2113G>C (p.Gly705Arg) n.4601G>C n.5257G>C n.5717G>C | gnomAD v4 |