| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.25240305_25240358dup | CA2658171641 | DNMT3A | c.588_641dup c.1415_1468dup (n.1415_1468dup) c.1600_1653dup (p.Glu551_Ser552insAsnValValAlaMetGlyValSerAspLysArgAspIleSerArgPheLeuGlu) c.2269_2322dup (p.Glu774_Ser775insAsnValValAlaMetGlyValSerAspLysArgAspIleSerArgPheLeuGlu) c.1702_1755dup (p.Glu585_Ser586insAsnValValAlaMetGlyValSerAspLysArgAspIleSerArgPheLeuGlu) c.2269_2322dup (p.Glu774_Val775insAsnValValAlaMetGlyValSerAspLysArgAspIleSerArgPheLeuGlu) n.488_541dup n.641_694dup n.588_641dup n.269_322dup n.310+285_310+338dup c.1825_1878dup (p.Glu626_Ser627insAsnValValAlaMetGlyValSerAspLysArgAspIleSerArgPheLeuGlu) c.2122_2175dup (p.Glu725_Ser726insAsnValValAlaMetGlyValSerAspLysArgAspIleSerArgPheLeuGlu) c.2104_2157dup (p.Glu719_Ser720insAsnValValAlaMetGlyValSerAspLysArgAspIleSerArgPheLeuGlu) c.1813_1866dup (p.Glu622_Ser623insAsnValValAlaMetGlyValSerAspLysArgAspIleSerArgPheLeuGlu) c.1741_1794dup (p.Glu598_Ser599insAsnValValAlaMetGlyValSerAspLysArgAspIleSerArgPheLeuGlu) n.2607_2660dup n.2546_2599dup n.2500_2553dup | gnomAD v4 |
| 2 | g.25240306_25240313dup | CA2658171651 | DNMT3A | c.633_640dup c.1460_1467dup (n.1460_1467dup) c.1645_1652dup (p.Glu551AspfsTer8) c.2314_2321dup (p.Glu774AspfsTer8) c.1747_1754dup (p.Glu585AspfsTer8) c.2314_2321dup (p.Glu774AspfsTer?) n.533_540dup n.686_693dup n.633_640dup n.314_321dup n.310+330_310+337dup c.1870_1877dup (p.Glu626AspfsTer8) c.2167_2174dup (p.Glu725AspfsTer8) c.2149_2156dup (p.Glu719AspfsTer8) c.1858_1865dup (p.Glu622AspfsTer8) c.1786_1793dup (p.Glu598AspfsTer8) n.2652_2659dup n.2591_2598dup n.2545_2552dup | gnomAD v4 |
| 2 | g.25240309_25240318dup | CA1555651 | DNMT3A | c.630_639dup c.1457_1466dup (n.1457_1466dup) c.1642_1651dup (p.Glu551AlafsTer11) c.2311_2320dup (p.Glu774AlafsTer11) c.1744_1753dup (p.Glu585AlafsTer11) c.2311_2320dup (p.Glu774AlafsTer8) n.530_539dup n.683_692dup n.630_639dup n.311_320dup n.310+327_310+336dup c.1867_1876dup (p.Glu626AlafsTer11) c.2164_2173dup (p.Glu725AlafsTer11) c.2146_2155dup (p.Glu719AlafsTer11) c.1855_1864dup (p.Glu622AlafsTer11) c.1783_1792dup (p.Glu598AlafsTer11) n.2649_2658dup n.2588_2597dup n.2542_2551dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.25240305_25240319delinsGAGAAATCGCGAGAT | CA1239265095 | DNMT3A | c.624_638delinsATCTCGCGATTTCTC c.1451_1465delinsATCTCGCGATTTCTC (n.1451_1465delinsATCTCGCGATTTCTC) c.1636_1650delinsATCTCGCGATTTCTC (p.Ile546=) c.2305_2319delinsATCTCGCGATTTCTC (p.Ile769=) c.1738_1752delinsATCTCGCGATTTCTC (p.Ile580=) n.524_538delinsATCTCGCGATTTCTC n.677_691delinsATCTCGCGATTTCTC n.624_638delinsATCTCGCGATTTCTC n.305_319delinsATCTCGCGATTTCTC n.310+321_310+335delinsATCTCGCGATTTCTC c.1861_1875delinsATCTCGCGATTTCTC (p.Ile621=) c.2158_2172delinsATCTCGCGATTTCTC (p.Ile720=) c.2140_2154delinsATCTCGCGATTTCTC (p.Ile714=) c.1849_1863delinsATCTCGCGATTTCTC (p.Ile617=) c.1777_1791delinsATCTCGCGATTTCTC (p.Ile593=) n.2643_2657delinsATCTCGCGATTTCTC n.2582_2596delinsATCTCGCGATTTCTC n.2536_2550delinsATCTCGCGATTTCTC | |
| 2 | g.25240306_25240319del | CA1555654 | DNMT3A | c.624_637del c.1451_1464del (n.1451_1464del) c.1636_1649del (p.Ile546ArgfsTer8) c.2305_2318del (p.Ile769ArgfsTer8) c.1738_1751del (p.Ile580ArgfsTer8) c.2305_2318del (p.Ile769ArgfsTer5) n.524_537del n.677_690del n.624_637del n.305_318del n.310+321_310+334del c.1861_1874del (p.Ile621ArgfsTer8) c.2158_2171del (p.Ile720ArgfsTer8) c.2140_2153del (p.Ile714ArgfsTer8) c.1849_1862del (p.Ile617ArgfsTer8) c.1777_1790del (p.Ile593ArgfsTer8) n.2643_2656del n.2582_2595del n.2536_2549del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.25240309_25240312del | CA2576693880 | DNMT3A | c.631_634del c.1458_1461del (n.1458_1461del) c.1643_1646del (p.Arg548LeufsTer7) c.2312_2315del (p.Arg771LeufsTer7) c.1745_1748del (p.Arg582LeufsTer7) c.2312_2315del (p.Arg771LeufsTer?) n.531_534del n.684_687del n.631_634del n.312_315del n.310+328_310+331del c.1868_1871del (p.Arg623LeufsTer7) c.2165_2168del (p.Arg722LeufsTer7) c.2147_2150del (p.Arg716LeufsTer7) c.1856_1859del (p.Arg619LeufsTer7) c.1784_1787del (p.Arg595LeufsTer7) n.2650_2653del n.2589_2592del n.2543_2546del | |
| 2 | g.25240310_25240314delinsATCGC | CA1239265114 | DNMT3A | c.629_633delinsGCGAT c.1456_1460delinsGCGAT (n.1456_1460delinsGCGAT) c.1641_1645delinsGCGAT (p.Ser547=) c.2310_2314delinsGCGAT (p.Ser770=) c.1743_1747delinsGCGAT (p.Ser581=) n.529_533delinsGCGAT n.682_686delinsGCGAT n.629_633delinsGCGAT n.310_314delinsGCGAT n.310+326_310+330delinsGCGAT c.1866_1870delinsGCGAT (p.Ser622=) c.2163_2167delinsGCGAT (p.Ser721=) c.2145_2149delinsGCGAT (p.Ser715=) c.1854_1858delinsGCGAT (p.Ser618=) c.1782_1786delinsGCGAT (p.Ser594=) n.2648_2652delinsGCGAT n.2587_2591delinsGCGAT n.2541_2545delinsGCGAT | |
| 2 | g.25240312_25240319del | CA2658171712 | DNMT3A | c.626_633del c.1453_1460del (n.1453_1460del) c.1638_1645del (p.Phe549ValfsTer7) c.2307_2314del (p.Phe772ValfsTer7) c.1740_1747del (p.Phe583ValfsTer7) c.2307_2314del (p.Phe772GlyfsTer4) n.526_533del n.679_686del n.626_633del n.307_314del n.310+323_310+330del c.1863_1870del (p.Phe624ValfsTer7) c.2160_2167del (p.Phe723ValfsTer7) c.2142_2149del (p.Phe717ValfsTer7) c.1851_1858del (p.Phe620ValfsTer7) c.1779_1786del (p.Phe596ValfsTer7) n.2645_2652del n.2584_2591del n.2538_2545del | gnomAD v4 |
| 2 | g.25240311_25240314del | CA1239265115 | DNMT3A | c.629_632del c.1456_1459del (n.1456_1459del) c.1641_1644del (p.Arg548PhefsTer7) c.2310_2313del (p.Arg771PhefsTer7) c.1743_1746del (p.Arg582PhefsTer7) c.2310_2313del (p.Arg771PhefsTer?) n.529_532del n.682_685del n.629_632del n.310_313del n.310+326_310+329del c.1866_1869del (p.Arg623PhefsTer7) c.2163_2166del (p.Arg722PhefsTer7) c.2145_2148del (p.Arg716PhefsTer7) c.1854_1857del (p.Arg619PhefsTer7) c.1782_1785del (p.Arg595PhefsTer7) n.2648_2651del n.2587_2590del n.2541_2544del | dbSNP |
| 2 | g.25240311_25240364dup | CA2658171721 | DNMT3A | c.579_632dup c.1406_1459dup (n.1406_1459dup) c.1591_1644dup (p.Arg548_Phe549insLeuPheGluAsnValValAlaMetGlyValSerAspLysArgAspIleSerArg) c.2260_2313dup (p.Arg771_Phe772insLeuPheGluAsnValValAlaMetGlyValSerAspLysArgAspIleSerArg) c.1693_1746dup (p.Arg582_Phe583insLeuPheGluAsnValValAlaMetGlyValSerAspLysArgAspIleSerArg) n.479_532dup n.632_685dup n.579_632dup n.260_313dup n.310+276_310+329dup c.1816_1869dup (p.Arg623_Phe624insLeuPheGluAsnValValAlaMetGlyValSerAspLysArgAspIleSerArg) c.2113_2166dup (p.Arg722_Phe723insLeuPheGluAsnValValAlaMetGlyValSerAspLysArgAspIleSerArg) c.2095_2148dup (p.Arg716_Phe717insLeuPheGluAsnValValAlaMetGlyValSerAspLysArgAspIleSerArg) c.1804_1857dup (p.Arg619_Phe620insLeuPheGluAsnValValAlaMetGlyValSerAspLysArgAspIleSerArg) c.1732_1785dup (p.Arg595_Phe596insLeuPheGluAsnValValAlaMetGlyValSerAspLysArgAspIleSerArg) n.2598_2651dup n.2537_2590dup n.2491_2544dup | gnomAD v4 |
| 2 | g.25240312del | CA2576693886 | DNMT3A | c.631del c.1458del (n.1458del) c.1643del (p.Arg548HisfsTer8) c.2312del (p.Arg771HisfsTer8) c.1745del (p.Arg582HisfsTer8) c.2312del (p.Arg771HisfsTer?) n.531del n.684del n.631del n.312del n.310+328del c.1868del (p.Arg623HisfsTer8) c.2165del (p.Arg722HisfsTer8) c.2147del (p.Arg716HisfsTer8) c.1856del (p.Arg619HisfsTer8) c.1784del (p.Arg595HisfsTer8) n.2650del n.2589del n.2543del | gnomAD v4 |
| 2 | g.25240312C>A | CA346069638 | DNMT3A | c.631G>T c.1458G>T (n.1458G>T) c.1643G>T (p.Arg548Leu) c.2312G>T (p.Arg771Leu) c.1745G>T (p.Arg582Leu) n.531G>T n.684G>T n.631G>T n.312G>T n.310+328G>T c.1868G>T (p.Arg623Leu) c.2165G>T (p.Arg722Leu) c.2147G>T (p.Arg716Leu) c.1856G>T (p.Arg619Leu) c.1784G>T (p.Arg595Leu) n.2650G>T n.2589G>T n.2543G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.25240312C= | CA1239265123 | DNMT3A | c.631G= c.1458G= (n.1458G=) c.1643G= (p.Arg548=) c.2312G= (p.Arg771=) c.1745G= (p.Arg582=) n.531G= n.684G= n.631G= n.312G= n.310+328G= c.1868G= (p.Arg623=) c.2165G= (p.Arg722=) c.2147G= (p.Arg716=) c.1856G= (p.Arg619=) c.1784G= (p.Arg595=) n.2650G= n.2589G= n.2543G= | |
| 2 | g.25240312C>G | CA346069640 | DNMT3A | c.631G>C c.1458G>C (n.1458G>C) c.1643G>C (p.Arg548Pro) c.2312G>C (p.Arg771Pro) c.1745G>C (p.Arg582Pro) n.531G>C n.684G>C n.631G>C n.312G>C n.310+328G>C c.1868G>C (p.Arg623Pro) c.2165G>C (p.Arg722Pro) c.2147G>C (p.Arg716Pro) c.1856G>C (p.Arg619Pro) c.1784G>C (p.Arg595Pro) n.2650G>C n.2589G>C n.2543G>C | dbSNP gnomAD v4 |
| 2 | g.25240312C>T | CA1555657 | DNMT3A | c.631G>A c.1458G>A (n.1458G>A) c.1643G>A (p.Arg548Gln) c.2312G>A (p.Arg771Gln) c.1745G>A (p.Arg582Gln) n.531G>A n.684G>A n.631G>A n.312G>A n.310+328G>A c.1868G>A (p.Arg623Gln) c.2165G>A (p.Arg722Gln) c.2147G>A (p.Arg716Gln) c.1856G>A (p.Arg619Gln) c.1784G>A (p.Arg595Gln) n.2650G>A n.2589G>A n.2543G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 2 | g.25240312_25240315del | CA2658171748 | DNMT3A | c.628_631del c.1455_1458del (n.1455_1458del) c.1640_1643del (p.Ser547TyrfsTer8) c.2309_2312del (p.Ser770TyrfsTer8) c.1742_1745del (p.Ser581TyrfsTer8) c.2309_2312del (p.Ser770TyrfsTer?) n.528_531del n.681_684del n.628_631del n.309_312del n.310+325_310+328del c.1865_1868del (p.Ser622TyrfsTer8) c.2162_2165del (p.Ser721TyrfsTer8) c.2144_2147del (p.Ser715TyrfsTer8) c.1853_1856del (p.Ser618TyrfsTer8) c.1781_1784del (p.Ser594TyrfsTer8) n.2647_2650del n.2586_2589del n.2540_2543del | gnomAD v4 |
| 2 | g.25240314_25240315dup | CA645515158 | DNMT3A | c.630_631dup c.1457_1458dup (n.1457_1458dup) c.1642_1643dup (p.Phe549AspfsTer8) c.2311_2312dup (p.Phe772AspfsTer8) c.1744_1745dup (p.Phe583AspfsTer8) c.2311_2312dup (p.Phe772AspfsTer?) n.530_531dup n.683_684dup n.630_631dup n.311_312dup n.310+327_310+328dup c.1867_1868dup (p.Phe624AspfsTer8) c.2164_2165dup (p.Phe723AspfsTer8) c.2146_2147dup (p.Phe717AspfsTer8) c.1855_1856dup (p.Phe620AspfsTer8) c.1783_1784dup (p.Phe596AspfsTer8) n.2649_2650dup n.2588_2589dup n.2542_2543dup | COSMIC |
| 2 | g.25240312_25240337dup | CA916494386 | DNMT3A | c.606_631dup c.1433_1458dup (n.1433_1458dup) c.1618_1643dup (p.Phe549LeufsTer16) c.2287_2312dup (p.Phe772LeufsTer16) c.1720_1745dup (p.Phe583LeufsTer16) c.2287_2312dup (p.Phe772LeufsTer?) n.506_531dup n.659_684dup n.606_631dup n.287_312dup n.310+303_310+328dup c.1843_1868dup (p.Phe624LeufsTer16) c.2140_2165dup (p.Phe723LeufsTer16) c.2122_2147dup (p.Phe717LeufsTer16) c.1831_1856dup (p.Phe620LeufsTer16) c.1759_1784dup (p.Phe596LeufsTer16) n.2625_2650dup n.2564_2589dup n.2518_2543dup | dbSNP |
| 2 | g.25240315_25240339dup | CA2658171739 | DNMT3A | c.607_631dup c.1434_1458dup (n.1434_1458dup) c.1619_1643dup (p.Phe549Ter) c.2288_2312dup (p.Phe772Ter) c.1721_1745dup (p.Phe583Ter) n.507_531dup n.660_684dup n.607_631dup n.288_312dup n.310+304_310+328dup c.1844_1868dup (p.Phe624Ter) c.2141_2165dup (p.Phe723Ter) c.2123_2147dup (p.Phe717Ter) c.1832_1856dup (p.Phe620Ter) c.1760_1784dup (p.Phe596Ter) n.2626_2650dup n.2565_2589dup n.2519_2543dup | gnomAD v4 |
| 2 | g.25240313del | CA2658171770 | DNMT3A | c.630del c.1457del (n.1457del) c.1642del (p.Arg548AspfsTer8) c.2311del (p.Arg771AspfsTer8) c.1744del (p.Arg582AspfsTer8) c.2311del (p.Arg771AspfsTer?) n.530del n.683del n.630del n.311del n.310+327del c.1867del (p.Arg623AspfsTer8) c.2164del (p.Arg722AspfsTer8) c.2146del (p.Arg716AspfsTer8) c.1855del (p.Arg619AspfsTer8) c.1783del (p.Arg595AspfsTer8) n.2649del n.2588del n.2542del | gnomAD v4 |
| 2 | g.25240313G>A | CA1555658 | DNMT3A | c.630C>T c.1457C>T (n.1457C>T) c.1642C>T (p.Arg548Ter) c.2311C>T (p.Arg771Ter) c.1744C>T (p.Arg582Ter) n.530C>T n.683C>T n.630C>T n.311C>T n.310+327C>T c.1867C>T (p.Arg623Ter) c.2164C>T (p.Arg722Ter) c.2146C>T (p.Arg716Ter) c.1855C>T (p.Arg619Ter) c.1783C>T (p.Arg595Ter) n.2649C>T n.2588C>T n.2542C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 2 | g.25240313G>C | CA346069644 | DNMT3A | c.630C>G c.1457C>G (n.1457C>G) c.1642C>G (p.Arg548Gly) c.2311C>G (p.Arg771Gly) c.1744C>G (p.Arg582Gly) n.530C>G n.683C>G n.630C>G n.311C>G n.310+327C>G c.1867C>G (p.Arg623Gly) c.2164C>G (p.Arg722Gly) c.2146C>G (p.Arg716Gly) c.1855C>G (p.Arg619Gly) c.1783C>G (p.Arg595Gly) n.2649C>G n.2588C>G n.2542C>G | ClinVar gnomAD v4 COSMIC |
| 2 | g.25240313G= | CA1239265127 | DNMT3A | c.630C= c.1457C= (n.1457C=) c.1642C= (p.Arg548=) c.2311C= (p.Arg771=) c.1744C= (p.Arg582=) n.530C= n.683C= n.630C= n.311C= n.310+327C= c.1867C= (p.Arg623=) c.2164C= (p.Arg722=) c.2146C= (p.Arg716=) c.1855C= (p.Arg619=) c.1783C= (p.Arg595=) n.2649C= n.2588C= n.2542C= | |
| 2 | g.25240313G>T | CA425181399 | DNMT3A | c.630C>A c.1457C>A (n.1457C>A) c.1642C>A (p.Arg548=) c.2311C>A (p.Arg771=) c.1744C>A (p.Arg582=) n.530C>A n.683C>A n.630C>A n.311C>A n.310+327C>A c.1867C>A (p.Arg623=) c.2164C>A (p.Arg722=) c.2146C>A (p.Arg716=) c.1855C>A (p.Arg619=) c.1783C>A (p.Arg595=) n.2649C>A n.2588C>A n.2542C>A | |
| 2 | g.25240313dup | CA2658171767 | DNMT3A | c.630dup c.1457dup (n.1457dup) c.1642dup (p.Arg548ProfsTer11) c.2311dup (p.Arg771ProfsTer11) c.1744dup (p.Arg582ProfsTer11) c.2311dup (p.Arg771ProfsTer8) n.530dup n.683dup n.630dup n.311dup n.310+327dup c.1867dup (p.Arg623ProfsTer11) c.2164dup (p.Arg722ProfsTer11) c.2146dup (p.Arg716ProfsTer11) c.1855dup (p.Arg619ProfsTer11) c.1783dup (p.Arg595ProfsTer11) n.2649dup n.2588dup n.2542dup | gnomAD v4 |
| 2 | g.25240314C>A | CA425181400 | DNMT3A | c.629G>T c.1456G>T (n.1456G>T) c.1641G>T (p.Ser547=) c.2310G>T (p.Ser770=) c.1743G>T (p.Ser581=) n.529G>T n.682G>T n.629G>T n.310G>T n.310+326G>T c.1866G>T (p.Ser622=) c.2163G>T (p.Ser721=) c.2145G>T (p.Ser715=) c.1854G>T (p.Ser618=) c.1782G>T (p.Ser594=) n.2648G>T n.2587G>T n.2541G>T | |
| 2 | g.25240314C= | CA1239265130 | DNMT3A | c.629G= c.1456G= (n.1456G=) c.1641G= (p.Ser547=) c.2310G= (p.Ser770=) c.1743G= (p.Ser581=) n.529G= n.682G= n.629G= n.310G= n.310+326G= c.1866G= (p.Ser622=) c.2163G= (p.Ser721=) c.2145G= (p.Ser715=) c.1854G= (p.Ser618=) c.1782G= (p.Ser594=) n.2648G= n.2587G= n.2541G= | |
| 2 | g.25240314C>G | CA425181401 | DNMT3A | c.629G>C c.1456G>C (n.1456G>C) c.1641G>C (p.Ser547=) c.2310G>C (p.Ser770=) c.1743G>C (p.Ser581=) n.529G>C n.682G>C n.629G>C n.310G>C n.310+326G>C c.1866G>C (p.Ser622=) c.2163G>C (p.Ser721=) c.2145G>C (p.Ser715=) c.1854G>C (p.Ser618=) c.1782G>C (p.Ser594=) n.2648G>C n.2587G>C n.2541G>C | |
| 2 | g.25240314C>T | CA1555659 | DNMT3A | c.629G>A c.1456G>A (n.1456G>A) c.1641G>A (p.Ser547=) c.2310G>A (p.Ser770=) c.1743G>A (p.Ser581=) n.529G>A n.682G>A n.629G>A n.310G>A n.310+326G>A c.1866G>A (p.Ser622=) c.2163G>A (p.Ser721=) c.2145G>A (p.Ser715=) c.1854G>A (p.Ser618=) c.1782G>A (p.Ser594=) n.2648G>A n.2587G>A n.2541G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.25240314dup | CA916494387 | DNMT3A | c.629dup c.1456dup (n.1456dup) c.1641dup (p.Arg548AlafsTer11) c.2310dup (p.Arg771AlafsTer11) c.1743dup (p.Arg582AlafsTer11) c.2310dup (p.Arg771AlafsTer8) n.529dup n.682dup n.629dup n.310dup n.310+326dup c.1866dup (p.Arg623AlafsTer11) c.2163dup (p.Arg722AlafsTer11) c.2145dup (p.Arg716AlafsTer11) c.1854dup (p.Arg619AlafsTer11) c.1782dup (p.Arg595AlafsTer11) n.2648dup n.2587dup n.2541dup | dbSNP gnomAD v4 |
| 2 | g.25240314_25240315insCG | CA645515162 | DNMT3A | c.628_629insCG c.1455_1456insCG (n.1455_1456insCG) c.1640_1641insCG (p.Arg548GlyfsTer9) c.2309_2310insCG (p.Arg771GlyfsTer9) c.1742_1743insCG (p.Arg582GlyfsTer9) c.2309_2310insCG (p.Arg771GlyfsTer?) n.528_529insCG n.681_682insCG n.628_629insCG n.309_310insCG n.310+325_310+326insCG c.1865_1866insCG (p.Arg623GlyfsTer9) c.2162_2163insCG (p.Arg722GlyfsTer9) c.2144_2145insCG (p.Arg716GlyfsTer9) c.1853_1854insCG (p.Arg619GlyfsTer9) c.1781_1782insCG (p.Arg595GlyfsTer9) n.2647_2648insCG n.2586_2587insCG n.2540_2541insCG | COSMIC |
| 2 | g.25240315G>A | CA1555660 | DNMT3A | c.628C>T c.1455C>T (n.1455C>T) c.1640C>T (p.Ser547Leu) c.2309C>T (p.Ser770Leu) c.1742C>T (p.Ser581Leu) n.528C>T n.681C>T n.628C>T n.309C>T n.310+325C>T c.1865C>T (p.Ser622Leu) c.2162C>T (p.Ser721Leu) c.2144C>T (p.Ser715Leu) c.1853C>T (p.Ser618Leu) c.1781C>T (p.Ser594Leu) n.2647C>T n.2586C>T n.2540C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 2 | g.25240315G>C | CA43698606 | DNMT3A | c.628C>G c.1455C>G (n.1455C>G) c.1640C>G (p.Ser547Trp) c.2309C>G (p.Ser770Trp) c.1742C>G (p.Ser581Trp) n.528C>G n.681C>G n.628C>G n.309C>G n.310+325C>G c.1865C>G (p.Ser622Trp) c.2162C>G (p.Ser721Trp) c.2144C>G (p.Ser715Trp) c.1853C>G (p.Ser618Trp) c.1781C>G (p.Ser594Trp) n.2647C>G n.2586C>G n.2540C>G | dbSNP gnomAD v4 COSMIC COSMIC |
| 2 | g.25240315G= | CA1239265133 | DNMT3A | c.628C= c.1455C= (n.1455C=) c.1640C= (p.Ser547=) c.2309C= (p.Ser770=) c.1742C= (p.Ser581=) n.528C= n.681C= n.628C= n.309C= n.310+325C= c.1865C= (p.Ser622=) c.2162C= (p.Ser721=) c.2144C= (p.Ser715=) c.1853C= (p.Ser618=) c.1781C= (p.Ser594=) n.2647C= n.2586C= n.2540C= | |
| 2 | g.25240315G>T | CA1555661 | DNMT3A | c.628C>A c.1455C>A (n.1455C>A) c.1640C>A (p.Ser547Ter) c.2309C>A (p.Ser770Ter) c.1742C>A (p.Ser581Ter) n.528C>A n.681C>A n.628C>A n.309C>A n.310+325C>A c.1865C>A (p.Ser622Ter) c.2162C>A (p.Ser721Ter) c.2144C>A (p.Ser715Ter) c.1853C>A (p.Ser618Ter) c.1781C>A (p.Ser594Ter) n.2647C>A n.2586C>A n.2540C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.25240315_25240317dup | CA2658171799 | DNMT3A | c.626_628dup c.1453_1455dup (n.1453_1455dup) c.1638_1640dup (p.Ser547_Arg548insSer) c.2307_2309dup (p.Ser770_Arg771insSer) c.1740_1742dup (p.Ser581_Arg582insSer) n.526_528dup n.679_681dup n.626_628dup n.307_309dup n.310+323_310+325dup c.1863_1865dup (p.Ser622_Arg623insSer) c.2160_2162dup (p.Ser721_Arg722insSer) c.2142_2144dup (p.Ser715_Arg716insSer) c.1851_1853dup (p.Ser618_Arg619insSer) c.1779_1781dup (p.Ser594_Arg595insSer) n.2645_2647dup n.2584_2586dup n.2538_2540dup | gnomAD v4 |
| 2 | g.25240316del | CA2658171807 | DNMT3A | c.627del c.1454del (n.1454del) c.1639del (p.Ser547ArgfsTer9) c.2308del (p.Ser770ArgfsTer9) c.1741del (p.Ser581ArgfsTer9) c.2308del (p.Ser770ArgfsTer?) n.527del n.680del n.627del n.308del n.310+324del c.1864del (p.Ser622ArgfsTer9) c.2161del (p.Ser721ArgfsTer9) c.2143del (p.Ser715ArgfsTer9) c.1852del (p.Ser618ArgfsTer9) c.1780del (p.Ser594ArgfsTer9) n.2646del n.2585del n.2539del | gnomAD v4 |
| 2 | g.25240316A= | CA1239265135 | DNMT3A | c.627T= c.1454T= (n.1454T=) c.1639T= (p.Ser547=) c.2308T= (p.Ser770=) c.1741T= (p.Ser581=) n.527T= n.680T= n.627T= n.308T= n.310+324T= c.1864T= (p.Ser622=) c.2161T= (p.Ser721=) c.2143T= (p.Ser715=) c.1852T= (p.Ser618=) c.1780T= (p.Ser594=) n.2646T= n.2585T= n.2539T= | |
| 2 | g.25240316A>C | CA346069652 | DNMT3A | c.627T>G c.1454T>G (n.1454T>G) c.1639T>G (p.Ser547Ala) c.2308T>G (p.Ser770Ala) c.1741T>G (p.Ser581Ala) n.527T>G n.680T>G n.627T>G n.308T>G n.310+324T>G c.1864T>G (p.Ser622Ala) c.2161T>G (p.Ser721Ala) c.2143T>G (p.Ser715Ala) c.1852T>G (p.Ser618Ala) c.1780T>G (p.Ser594Ala) n.2646T>G n.2585T>G n.2539T>G | gnomAD v4 |
| 2 | g.25240316A>G | CA346069654 | DNMT3A | c.627T>C c.1454T>C (n.1454T>C) c.1639T>C (p.Ser547Pro) c.2308T>C (p.Ser770Pro) c.1741T>C (p.Ser581Pro) n.527T>C n.680T>C n.627T>C n.308T>C n.310+324T>C c.1864T>C (p.Ser622Pro) c.2161T>C (p.Ser721Pro) c.2143T>C (p.Ser715Pro) c.1852T>C (p.Ser618Pro) c.1780T>C (p.Ser594Pro) n.2646T>C n.2585T>C n.2539T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.25240316A>T | CA346069656 | DNMT3A | c.627T>A c.1454T>A (n.1454T>A) c.1639T>A (p.Ser547Thr) c.2308T>A (p.Ser770Thr) c.1741T>A (p.Ser581Thr) n.527T>A n.680T>A n.627T>A n.308T>A n.310+324T>A c.1864T>A (p.Ser622Thr) c.2161T>A (p.Ser721Thr) c.2143T>A (p.Ser715Thr) c.1852T>A (p.Ser618Thr) c.1780T>A (p.Ser594Thr) n.2646T>A n.2585T>A n.2539T>A | |
| 2 | g.25240316dup | CA645515164 | DNMT3A | c.627dup c.1454dup (n.1454dup) c.1639dup (p.Ser547PhefsTer12) c.2308dup (p.Ser770PhefsTer12) c.1741dup (p.Ser581PhefsTer12) c.2308dup (p.Ser770PhefsTer9) n.527dup n.680dup n.627dup n.308dup n.310+324dup c.1864dup (p.Ser622PhefsTer12) c.2161dup (p.Ser721PhefsTer12) c.2143dup (p.Ser715PhefsTer12) c.1852dup (p.Ser618PhefsTer12) c.1780dup (p.Ser594PhefsTer12) n.2646dup n.2585dup n.2539dup | COSMIC |
| 2 | g.25240317del | CA425181404 | DNMT3A | c.626del c.1453del (n.1453del) c.1638del (p.Ser547ArgfsTer9) c.2307del (p.Ser770ArgfsTer9) c.1740del (p.Ser581ArgfsTer9) c.2307del (p.Ser770ArgfsTer?) n.526del n.679del n.626del n.307del n.310+323del c.1863del (p.Ser622ArgfsTer9) c.2160del (p.Ser721ArgfsTer9) c.2142del (p.Ser715ArgfsTer9) c.1851del (p.Ser618ArgfsTer9) c.1779del (p.Ser594ArgfsTer9) n.2645del n.2584del n.2538del | |
| 2 | g.25240317G>A | CA425181402 | DNMT3A | c.626C>T c.1453C>T (n.1453C>T) c.1638C>T (p.Ile546=) c.2307C>T (p.Ile769=) c.1740C>T (p.Ile580=) n.526C>T n.679C>T n.626C>T n.307C>T n.310+323C>T c.1863C>T (p.Ile621=) c.2160C>T (p.Ile720=) c.2142C>T (p.Ile714=) c.1851C>T (p.Ile617=) c.1779C>T (p.Ile593=) n.2645C>T n.2584C>T n.2538C>T | dbSNP gnomAD v4 |
| 2 | g.25240317G>C | CA346069658 | DNMT3A | c.626C>G c.1453C>G (n.1453C>G) c.1638C>G (p.Ile546Met) c.2307C>G (p.Ile769Met) c.1740C>G (p.Ile580Met) n.526C>G n.679C>G n.626C>G n.307C>G n.310+323C>G c.1863C>G (p.Ile621Met) c.2160C>G (p.Ile720Met) c.2142C>G (p.Ile714Met) c.1851C>G (p.Ile617Met) c.1779C>G (p.Ile593Met) n.2645C>G n.2584C>G n.2538C>G | gnomAD v4 |
| 2 | g.25240317G= | CA1239265138 | DNMT3A | c.626C= c.1453C= (n.1453C=) c.1638C= (p.Ile546=) c.2307C= (p.Ile769=) c.1740C= (p.Ile580=) n.526C= n.679C= n.626C= n.307C= n.310+323C= c.1863C= (p.Ile621=) c.2160C= (p.Ile720=) c.2142C= (p.Ile714=) c.1851C= (p.Ile617=) c.1779C= (p.Ile593=) n.2645C= n.2584C= n.2538C= | |
| 2 | g.25240317G>T | CA425181403 | DNMT3A | c.626C>A c.1453C>A (n.1453C>A) c.1638C>A (p.Ile546=) c.2307C>A (p.Ile769=) c.1740C>A (p.Ile580=) n.526C>A n.679C>A n.626C>A n.307C>A n.310+323C>A c.1863C>A (p.Ile621=) c.2160C>A (p.Ile720=) c.2142C>A (p.Ile714=) c.1851C>A (p.Ile617=) c.1779C>A (p.Ile593=) n.2645C>A n.2584C>A n.2538C>A | |
| 2 | g.25240317_25240318insT | CA425181405 | DNMT3A | c.625_626insA c.1452_1453insA (n.1452_1453insA) c.1637_1638insA (p.Ser547LeufsTer12) c.2306_2307insA (p.Ser770LeufsTer12) c.1739_1740insA (p.Ser581LeufsTer12) c.2306_2307insA (p.Ser770LeufsTer9) n.525_526insA n.678_679insA n.625_626insA n.306_307insA n.310+322_310+323insA c.1862_1863insA (p.Ser622LeufsTer12) c.2159_2160insA (p.Ser721LeufsTer12) c.2141_2142insA (p.Ser715LeufsTer12) c.1850_1851insA (p.Ser618LeufsTer12) c.1778_1779insA (p.Ser594LeufsTer12) n.2644_2645insA n.2583_2584insA n.2537_2538insA | |
| 2 | g.25240318del | CA2576693894 | DNMT3A | c.625del c.1452del (n.1452del) c.1637del (p.Ile546ThrfsTer10) c.2306del (p.Ile769ThrfsTer10) c.1739del (p.Ile580ThrfsTer10) c.2306del (p.Ile769ThrfsTer?) n.525del n.678del n.625del n.306del n.310+322del c.1862del (p.Ile621ThrfsTer10) c.2159del (p.Ile720ThrfsTer10) c.2141del (p.Ile714ThrfsTer10) c.1850del (p.Ile617ThrfsTer10) c.1778del (p.Ile593ThrfsTer10) n.2644del n.2583del n.2537del | gnomAD v4 |
| 2 | g.25240318A= | CA1239265140 | DNMT3A | c.625T= c.1452T= (n.1452T=) c.1637T= (p.Ile546=) c.2306T= (p.Ile769=) c.1739T= (p.Ile580=) n.525T= n.678T= n.625T= n.306T= n.310+322T= c.1862T= (p.Ile621=) c.2159T= (p.Ile720=) c.2141T= (p.Ile714=) c.1850T= (p.Ile617=) c.1778T= (p.Ile593=) n.2644T= n.2583T= n.2537T= |