Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.25240290_25240301del | CA2658171593 | DNMT3A | c.641+1_641+12del c.1468+1_1468+12del (n.1468+1_1468+12del) c.1653+1_1653+12del (n.1653+1_1653+12del) c.2322+1_2322+12del (n.2322+1_2322+12del) c.1755+1_1755+12del (n.1755+1_1755+12del) n.541+1_541+12del n.694+1_694+12del n.641+1_641+12del n.322+1_322+12del n.310+339_310+350del c.1878+1_1878+12del (n.1878+1_1878+12del) c.2175+1_2175+12del (n.2175+1_2175+12del) c.2157+1_2157+12del (n.2157+1_2157+12del) c.1866+1_1866+12del (n.1866+1_1866+12del) c.1794+1_1794+12del (n.1794+1_1794+12del) n.2660+1_2660+12del n.2599+1_2599+12del n.2553+1_2553+12del | gnomAD v4 |
2 | g.25240299_25240311del | CA2658171609 | DNMT3A | c.632_641+3del c.1459_1468+3del c.1644_1653+3del c.2313_2322+3del c.1746_1755+3del n.532_541+3del n.685_694+3del n.632_641+3del n.313_322+3del n.310+329_310+341del c.1869_1878+3del c.2166_2175+3del c.2148_2157+3del c.1857_1866+3del c.1785_1794+3del n.2651_2660+3del n.2590_2599+3del n.2544_2553+3del | gnomAD v4 |
2 | g.25240300_25240301del | CA2658171615 | DNMT3A | c.641+1_641+2del c.1468+1_1468+2del (n.1468+1_1468+2del) c.1653+1_1653+2del (n.1653+1_1653+2del) c.2322+1_2322+2del (n.2322+1_2322+2del) c.1755+1_1755+2del (n.1755+1_1755+2del) n.541+1_541+2del n.694+1_694+2del n.641+1_641+2del n.322+1_322+2del n.310+339_310+340del c.1878+1_1878+2del (n.1878+1_1878+2del) c.2175+1_2175+2del (n.2175+1_2175+2del) c.2157+1_2157+2del (n.2157+1_2157+2del) c.1866+1_1866+2del (n.1866+1_1866+2del) c.1794+1_1794+2del (n.1794+1_1794+2del) n.2660+1_2660+2del n.2599+1_2599+2del n.2553+1_2553+2del | gnomAD v4 |
2 | g.25240301_25240306del | CA2658171617 | DNMT3A | c.638_641+2del c.1465_1468+2del c.1650_1653+2del c.2319_2322+2del c.1752_1755+2del n.538_541+2del n.691_694+2del n.638_641+2del n.319_322+2del n.310+335_310+340del c.1875_1878+2del c.2172_2175+2del c.2154_2157+2del c.1863_1866+2del c.1791_1794+2del n.2657_2660+2del n.2596_2599+2del n.2550_2553+2del | gnomAD v4 |
2 | g.25240301_25240310del | CA2658171621 | DNMT3A | c.634_641+2del c.1461_1468+2del c.1646_1653+2del c.2315_2322+2del c.1748_1755+2del n.534_541+2del n.687_694+2del n.634_641+2del n.315_322+2del n.310+331_310+340del c.1871_1878+2del c.2168_2175+2del c.2150_2157+2del c.1859_1866+2del c.1787_1794+2del n.2653_2660+2del n.2592_2599+2del n.2546_2553+2del | gnomAD v4 |
2 | g.25240301C>A | CA346069601 | DNMT3A | c.641+1G>T c.1468+1G>T (n.1468+1G>T) c.1653+1G>T (n.1653+1G>T) c.2322+1G>T (n.2322+1G>T) c.1755+1G>T (n.1755+1G>T) n.541+1G>T n.694+1G>T n.641+1G>T n.322+1G>T n.310+339G>T c.1878+1G>T (n.1878+1G>T) c.2175+1G>T (n.2175+1G>T) c.2157+1G>T (n.2157+1G>T) c.1866+1G>T (n.1866+1G>T) c.1794+1G>T (n.1794+1G>T) n.2660+1G>T n.2599+1G>T n.2553+1G>T | dbSNP gnomAD v4 |
2 | g.25240301C= | CA1239265078 | DNMT3A | c.641+1G= c.1468+1G= (n.1468+1G=) c.1653+1G= (n.1653+1G=) c.2322+1G= (n.2322+1G=) c.1755+1G= (n.1755+1G=) n.541+1G= n.694+1G= n.641+1G= n.322+1G= n.310+339G= c.1878+1G= (n.1878+1G=) c.2175+1G= (n.2175+1G=) c.2157+1G= (n.2157+1G=) c.1866+1G= (n.1866+1G=) c.1794+1G= (n.1794+1G=) n.2660+1G= n.2599+1G= n.2553+1G= | |
2 | g.25240301C>G | CA346069602 | DNMT3A | c.641+1G>C c.1468+1G>C (n.1468+1G>C) c.1653+1G>C (n.1653+1G>C) c.2322+1G>C (n.2322+1G>C) c.1755+1G>C (n.1755+1G>C) n.541+1G>C n.694+1G>C n.641+1G>C n.322+1G>C n.310+339G>C c.1878+1G>C (n.1878+1G>C) c.2175+1G>C (n.2175+1G>C) c.2157+1G>C (n.2157+1G>C) c.1866+1G>C (n.1866+1G>C) c.1794+1G>C (n.1794+1G>C) n.2660+1G>C n.2599+1G>C n.2553+1G>C | dbSNP gnomAD v4 |
2 | g.25240301C>T | CA16021329 | DNMT3A | c.641+1G>A c.1468+1G>A (n.1468+1G>A) c.1653+1G>A (n.1653+1G>A) c.2322+1G>A (n.2322+1G>A) c.1755+1G>A (n.1755+1G>A) n.541+1G>A n.694+1G>A n.641+1G>A n.322+1G>A n.310+339G>A c.1878+1G>A (n.1878+1G>A) c.2175+1G>A (n.2175+1G>A) c.2157+1G>A (n.2157+1G>A) c.1866+1G>A (n.1866+1G>A) c.1794+1G>A (n.1794+1G>A) n.2660+1G>A n.2599+1G>A n.2553+1G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.25240302del | CA2699053721 | DNMT3A | c.641+1del c.1468+1del c.1653+1del c.2322+1del c.1755+1del n.541+1del n.694+1del n.641+1del n.322+1del n.310+339del c.1878+1del c.2175+1del c.2157+1del c.1866+1del c.1794+1del n.2660+1del n.2599+1del n.2553+1del | dbSNP |
2 | g.25240302_25240304dup | CA2576693873 | DNMT3A | c.640_641+1dup c.1467_1468+1dup c.1652_1653+1dup c.2321_2322+1dup c.1754_1755+1dup n.540_541+1dup n.693_694+1dup n.640_641+1dup n.321_322+1dup n.310+337_310+339dup c.1877_1878+1dup c.2174_2175+1dup c.2156_2157+1dup c.1865_1866+1dup c.1793_1794+1dup n.2659_2660+1dup n.2598_2599+1dup n.2552_2553+1dup | |
2 | g.25240302C>A | CA346069603 | DNMT3A | c.641G>T c.1468G>T (n.1468G>T) c.1653G>T (p.Glu551Asp) c.2322G>T (p.Glu774Asp) c.1755G>T (p.Glu585Asp) n.541G>T n.694G>T n.641G>T n.322G>T n.310+338G>T c.1878G>T (p.Glu626Asp) c.2175G>T (p.Glu725Asp) c.2157G>T (p.Glu719Asp) c.1866G>T (p.Glu622Asp) c.1794G>T (p.Glu598Asp) n.2660G>T n.2599G>T n.2553G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.25240302C= | CA1239265082 | DNMT3A | c.641G= c.1468G= (n.1468G=) c.1653G= (p.Glu551=) c.2322G= (p.Glu774=) c.1755G= (p.Glu585=) n.541G= n.694G= n.641G= n.322G= n.310+338G= c.1878G= (p.Glu626=) c.2175G= (p.Glu725=) c.2157G= (p.Glu719=) c.1866G= (p.Glu622=) c.1794G= (p.Glu598=) n.2660G= n.2599G= n.2553G= | |
2 | g.25240302C>G | CA346069604 | DNMT3A | c.641G>C c.1468G>C (n.1468G>C) c.1653G>C (p.Glu551Asp) c.2322G>C (p.Glu774Asp) c.1755G>C (p.Glu585Asp) n.541G>C n.694G>C n.641G>C n.322G>C n.310+338G>C c.1878G>C (p.Glu626Asp) c.2175G>C (p.Glu725Asp) c.2157G>C (p.Glu719Asp) c.1866G>C (p.Glu622Asp) c.1794G>C (p.Glu598Asp) n.2660G>C n.2599G>C n.2553G>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25240302C>T | CA1555650 | DNMT3A | c.641G>A c.1468G>A (n.1468G>A) c.1653G>A (p.Glu551=) c.2322G>A (p.Glu774=) c.1755G>A (p.Glu585=) n.541G>A n.694G>A n.641G>A n.322G>A n.310+338G>A c.1878G>A (p.Glu626=) c.2175G>A (p.Glu725=) c.2157G>A (p.Glu719=) c.1866G>A (p.Glu622=) c.1794G>A (p.Glu598=) n.2660G>A n.2599G>A n.2553G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25240303_25240304del | CA2576693876 | DNMT3A | c.640_641del c.1467_1468del (n.1467_1468del) c.1652_1653del (p.Glu551ValfsTer7) c.2321_2322del (p.Glu774ValfsTer7) c.1754_1755del (p.Glu585ValfsTer7) c.2321_2322del (p.Glu774GlyfsTer4) n.540_541del n.693_694del n.640_641del n.321_322del n.310+337_310+338del c.1877_1878del (p.Glu626ValfsTer7) c.2174_2175del (p.Glu725ValfsTer7) c.2156_2157del (p.Glu719ValfsTer7) c.1865_1866del (p.Glu622ValfsTer7) c.1793_1794del (p.Glu598ValfsTer7) n.2659_2660del n.2598_2599del n.2552_2553del | |
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.25240303T>A | CA346069605 | DNMT3A | c.640A>T c.1467A>T (n.1467A>T) c.1652A>T (p.Glu551Val) c.2321A>T (p.Glu774Val) c.1754A>T (p.Glu585Val) n.540A>T n.693A>T n.640A>T n.321A>T n.310+337A>T c.1877A>T (p.Glu626Val) c.2174A>T (p.Glu725Val) c.2156A>T (p.Glu719Val) c.1865A>T (p.Glu622Val) c.1793A>T (p.Glu598Val) n.2659A>T n.2598A>T n.2552A>T | gnomAD v4 COSMIC COSMIC |
2 | g.25240303T>C | CA346069607 | DNMT3A | c.640A>G c.1467A>G (n.1467A>G) c.1652A>G (p.Glu551Gly) c.2321A>G (p.Glu774Gly) c.1754A>G (p.Glu585Gly) n.540A>G n.693A>G n.640A>G n.321A>G n.310+337A>G c.1877A>G (p.Glu626Gly) c.2174A>G (p.Glu725Gly) c.2156A>G (p.Glu719Gly) c.1865A>G (p.Glu622Gly) c.1793A>G (p.Glu598Gly) n.2659A>G n.2598A>G n.2552A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25240303T>G | CA346069606 | DNMT3A | c.640A>C c.1467A>C (n.1467A>C) c.1652A>C (p.Glu551Ala) c.2321A>C (p.Glu774Ala) c.1754A>C (p.Glu585Ala) n.540A>C n.693A>C n.640A>C n.321A>C n.310+337A>C c.1877A>C (p.Glu626Ala) c.2174A>C (p.Glu725Ala) c.2156A>C (p.Glu719Ala) c.1865A>C (p.Glu622Ala) c.1793A>C (p.Glu598Ala) n.2659A>C n.2598A>C n.2552A>C | gnomAD v4 |
2 | g.25240303T= | CA1239265085 | DNMT3A | c.640A= c.1467A= (n.1467A=) c.1652A= (p.Glu551=) c.2321A= (p.Glu774=) c.1754A= (p.Glu585=) n.540A= n.693A= n.640A= n.321A= n.310+337A= c.1877A= (p.Glu626=) c.2174A= (p.Glu725=) c.2156A= (p.Glu719=) c.1865A= (p.Glu622=) c.1793A= (p.Glu598=) n.2659A= n.2598A= n.2552A= | |
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.25240304del | CA2658171658 | DNMT3A | c.639del c.1466del (n.1466del) c.1651del (p.Glu551SerfsTer5) c.2320del (p.Glu774SerfsTer5) c.1753del (p.Glu585SerfsTer5) c.2320del (p.Glu774ArgfsTer?) n.539del n.692del n.639del n.320del n.310+336del c.1876del (p.Glu626SerfsTer5) c.2173del (p.Glu725SerfsTer5) c.2155del (p.Glu719SerfsTer5) c.1864del (p.Glu622SerfsTer5) c.1792del (p.Glu598SerfsTer5) n.2658del n.2597del n.2551del | gnomAD v4 |
2 | g.25240304C>A | CA346069608 | DNMT3A | c.639G>T c.1466G>T (n.1466G>T) c.1651G>T (p.Glu551Ter) c.2320G>T (p.Glu774Ter) c.1753G>T (p.Glu585Ter) n.539G>T n.692G>T n.639G>T n.320G>T n.310+336G>T c.1876G>T (p.Glu626Ter) c.2173G>T (p.Glu725Ter) c.2155G>T (p.Glu719Ter) c.1864G>T (p.Glu622Ter) c.1792G>T (p.Glu598Ter) n.2658G>T n.2597G>T n.2551G>T | dbSNP gnomAD v4 COSMIC |
2 | g.25240304C= | CA1239265089 | DNMT3A | c.639G= c.1466G= (n.1466G=) c.1651G= (p.Glu551=) c.2320G= (p.Glu774=) c.1753G= (p.Glu585=) n.539G= n.692G= n.639G= n.320G= n.310+336G= c.1876G= (p.Glu626=) c.2173G= (p.Glu725=) c.2155G= (p.Glu719=) c.1864G= (p.Glu622=) c.1792G= (p.Glu598=) n.2658G= n.2597G= n.2551G= | |
2 | g.25240304C>G | CA346069609 | DNMT3A | c.639G>C c.1466G>C (n.1466G>C) c.1651G>C (p.Glu551Gln) c.2320G>C (p.Glu774Gln) c.1753G>C (p.Glu585Gln) n.539G>C n.692G>C n.639G>C n.320G>C n.310+336G>C c.1876G>C (p.Glu626Gln) c.2173G>C (p.Glu725Gln) c.2155G>C (p.Glu719Gln) c.1864G>C (p.Glu622Gln) c.1792G>C (p.Glu598Gln) n.2658G>C n.2597G>C n.2551G>C | |
2 | g.25240304C>T | CA1555652 | DNMT3A | c.639G>A c.1466G>A (n.1466G>A) c.1651G>A (p.Glu551Lys) c.2320G>A (p.Glu774Lys) c.1753G>A (p.Glu585Lys) n.539G>A n.692G>A n.639G>A n.320G>A n.310+336G>A c.1876G>A (p.Glu626Lys) c.2173G>A (p.Glu725Lys) c.2155G>A (p.Glu719Lys) c.1864G>A (p.Glu622Lys) c.1792G>A (p.Glu598Lys) n.2658G>A n.2597G>A n.2551G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
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.25240305G>A | CA1555653 | DNMT3A | c.638C>T c.1465C>T (n.1465C>T) c.1650C>T (p.Leu550=) c.2319C>T (p.Leu773=) c.1752C>T (p.Leu584=) n.538C>T n.691C>T n.638C>T n.319C>T n.310+335C>T c.1875C>T (p.Leu625=) c.2172C>T (p.Leu724=) c.2154C>T (p.Leu718=) c.1863C>T (p.Leu621=) c.1791C>T (p.Leu597=) n.2657C>T n.2596C>T n.2550C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25240305G>C | CA425181393 | DNMT3A | c.638C>G c.1465C>G (n.1465C>G) c.1650C>G (p.Leu550=) c.2319C>G (p.Leu773=) c.1752C>G (p.Leu584=) n.538C>G n.691C>G n.638C>G n.319C>G n.310+335C>G c.1875C>G (p.Leu625=) c.2172C>G (p.Leu724=) c.2154C>G (p.Leu718=) c.1863C>G (p.Leu621=) c.1791C>G (p.Leu597=) n.2657C>G n.2596C>G n.2550C>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25240305G= | CA1239265096 | DNMT3A | c.638C= c.1465C= (n.1465C=) c.1650C= (p.Leu550=) c.2319C= (p.Leu773=) c.1752C= (p.Leu584=) n.538C= n.691C= n.638C= n.319C= n.310+335C= c.1875C= (p.Leu625=) c.2172C= (p.Leu724=) c.2154C= (p.Leu718=) c.1863C= (p.Leu621=) c.1791C= (p.Leu597=) n.2657C= n.2596C= n.2550C= | |
2 | g.25240305G>T | CA425181394 | DNMT3A | c.638C>A c.1465C>A (n.1465C>A) c.1650C>A (p.Leu550=) c.2319C>A (p.Leu773=) c.1752C>A (p.Leu584=) n.538C>A n.691C>A n.638C>A n.319C>A n.310+335C>A c.1875C>A (p.Leu625=) c.2172C>A (p.Leu724=) c.2154C>A (p.Leu718=) c.1863C>A (p.Leu621=) c.1791C>A (p.Leu597=) n.2657C>A n.2596C>A n.2550C>A | |
2 | g.25240305dup | CA2576693878 | DNMT3A | c.638dup c.1465dup (n.1465dup) c.1650dup (p.Glu551ArgfsTer8) c.2319dup (p.Glu774ArgfsTer8) c.1752dup (p.Glu585ArgfsTer8) c.2319dup (p.Glu774ArgfsTer5) n.538dup n.691dup n.638dup n.319dup n.310+335dup c.1875dup (p.Glu626ArgfsTer8) c.2172dup (p.Glu725ArgfsTer8) c.2154dup (p.Glu719ArgfsTer8) c.1863dup (p.Glu622ArgfsTer8) c.1791dup (p.Glu598ArgfsTer8) n.2657dup n.2596dup n.2550dup | |
2 | g.25240305_25240309del | CA2658171666 | DNMT3A | c.634_638del c.1461_1465del (n.1461_1465del) c.1646_1650del (p.Phe549Ter) c.2315_2319del (p.Phe772Ter) c.1748_1752del (p.Phe583Ter) n.534_538del n.687_691del n.634_638del n.315_319del n.310+331_310+335del c.1871_1875del (p.Phe624Ter) c.2168_2172del (p.Phe723Ter) c.2150_2154del (p.Phe717Ter) c.1859_1863del (p.Phe620Ter) c.1787_1791del (p.Phe596Ter) n.2653_2657del n.2592_2596del n.2546_2550del | 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.25240305_25240306insGTGGTCGCCGTATCATTAAAAA | CA2749204340 | DNMT3A | c.637_638insTTTTTAATGATACGGCGACCAC c.1464_1465insTTTTTAATGATACGGCGACCAC (n.1464_1465insTTTTTAATGATACGGCGACCAC) c.1649_1650insTTTTTAATGATACGGCGACCAC (p.Glu551PhefsTer2) c.2318_2319insTTTTTAATGATACGGCGACCAC (p.Glu774PhefsTer2) c.1751_1752insTTTTTAATGATACGGCGACCAC (p.Glu585PhefsTer2) n.537_538insTTTTTAATGATACGGCGACCAC n.690_691insTTTTTAATGATACGGCGACCAC n.637_638insTTTTTAATGATACGGCGACCAC n.318_319insTTTTTAATGATACGGCGACCAC n.310+334_310+335insTTTTTAATGATACGGCGACCAC c.1874_1875insTTTTTAATGATACGGCGACCAC (p.Glu626PhefsTer2) c.2171_2172insTTTTTAATGATACGGCGACCAC (p.Glu725PhefsTer2) c.2153_2154insTTTTTAATGATACGGCGACCAC (p.Glu719PhefsTer2) c.1862_1863insTTTTTAATGATACGGCGACCAC (p.Glu622PhefsTer2) c.1790_1791insTTTTTAATGATACGGCGACCAC (p.Glu598PhefsTer2) n.2656_2657insTTTTTAATGATACGGCGACCAC n.2595_2596insTTTTTAATGATACGGCGACCAC n.2549_2550insTTTTTAATGATACGGCGACCAC | |
2 | g.25240306A= | CA1239265101 | DNMT3A | c.637T= c.1464T= (n.1464T=) c.1649T= (p.Leu550=) c.2318T= (p.Leu773=) c.1751T= (p.Leu584=) n.537T= n.690T= n.637T= n.318T= n.310+334T= c.1874T= (p.Leu625=) c.2171T= (p.Leu724=) c.2153T= (p.Leu718=) c.1862T= (p.Leu621=) c.1790T= (p.Leu597=) n.2656T= n.2595T= n.2549T= | |
2 | g.25240306A>C | CA1555655 | DNMT3A | c.637T>G c.1464T>G (n.1464T>G) c.1649T>G (p.Leu550Arg) c.2318T>G (p.Leu773Arg) c.1751T>G (p.Leu584Arg) n.537T>G n.690T>G n.637T>G n.318T>G n.310+334T>G c.1874T>G (p.Leu625Arg) c.2171T>G (p.Leu724Arg) c.2153T>G (p.Leu718Arg) c.1862T>G (p.Leu621Arg) c.1790T>G (p.Leu597Arg) n.2656T>G n.2595T>G n.2549T>G | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.25240306A>G | CA346069613 | DNMT3A | c.637T>C c.1464T>C (n.1464T>C) c.1649T>C (p.Leu550Pro) c.2318T>C (p.Leu773Pro) c.1751T>C (p.Leu584Pro) n.537T>C n.690T>C n.637T>C n.318T>C n.310+334T>C c.1874T>C (p.Leu625Pro) c.2171T>C (p.Leu724Pro) c.2153T>C (p.Leu718Pro) c.1862T>C (p.Leu621Pro) c.1790T>C (p.Leu597Pro) n.2656T>C n.2595T>C n.2549T>C | COSMIC |
2 | g.25240306A>T | CA346069614 | DNMT3A | c.637T>A c.1464T>A (n.1464T>A) c.1649T>A (p.Leu550His) c.2318T>A (p.Leu773His) c.1751T>A (p.Leu584His) n.537T>A n.690T>A n.637T>A n.318T>A n.310+334T>A c.1874T>A (p.Leu625His) c.2171T>A (p.Leu724His) c.2153T>A (p.Leu718His) c.1862T>A (p.Leu621His) c.1790T>A (p.Leu597His) n.2656T>A n.2595T>A n.2549T>A | |
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.25240307del | CA2658171686 | DNMT3A | c.636del c.1463del (n.1463del) c.1648del (p.Leu550SerfsTer6) c.2317del (p.Leu773SerfsTer6) c.1750del (p.Leu584SerfsTer6) c.2317del (p.Leu773SerfsTer?) n.536del n.689del n.636del n.317del n.310+333del c.1873del (p.Leu625SerfsTer6) c.2170del (p.Leu724SerfsTer6) c.2152del (p.Leu718SerfsTer6) c.1861del (p.Leu621SerfsTer6) c.1789del (p.Leu597SerfsTer6) n.2655del n.2594del n.2548del | gnomAD v4 |
2 | g.25240307G>A | CA346069618 | DNMT3A | c.636C>T c.1463C>T (n.1463C>T) c.1648C>T (p.Leu550Phe) c.2317C>T (p.Leu773Phe) c.1750C>T (p.Leu584Phe) n.536C>T n.689C>T n.636C>T n.317C>T n.310+333C>T c.1873C>T (p.Leu625Phe) c.2170C>T (p.Leu724Phe) c.2152C>T (p.Leu718Phe) c.1861C>T (p.Leu621Phe) c.1789C>T (p.Leu597Phe) n.2655C>T n.2594C>T n.2548C>T | dbSNP |
2 | g.25240307G>C | CA346069619 | DNMT3A | c.636C>G c.1463C>G (n.1463C>G) c.1648C>G (p.Leu550Val) c.2317C>G (p.Leu773Val) c.1750C>G (p.Leu584Val) n.536C>G n.689C>G n.636C>G n.317C>G n.310+333C>G c.1873C>G (p.Leu625Val) c.2170C>G (p.Leu724Val) c.2152C>G (p.Leu718Val) c.1861C>G (p.Leu621Val) c.1789C>G (p.Leu597Val) n.2655C>G n.2594C>G n.2548C>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25240307G= | CA1239265105 | DNMT3A | c.636C= c.1463C= (n.1463C=) c.1648C= (p.Leu550=) c.2317C= (p.Leu773=) c.1750C= (p.Leu584=) n.536C= n.689C= n.636C= n.317C= n.310+333C= c.1873C= (p.Leu625=) c.2170C= (p.Leu724=) c.2152C= (p.Leu718=) c.1861C= (p.Leu621=) c.1789C= (p.Leu597=) n.2655C= n.2594C= n.2548C= | |
2 | g.25240307G>T | CA1555656 | DNMT3A | c.636C>A c.1463C>A (n.1463C>A) c.1648C>A (p.Leu550Ile) c.2317C>A (p.Leu773Ile) c.1750C>A (p.Leu584Ile) n.536C>A n.689C>A n.636C>A n.317C>A n.310+333C>A c.1873C>A (p.Leu625Ile) c.2170C>A (p.Leu724Ile) c.2152C>A (p.Leu718Ile) c.1861C>A (p.Leu621Ile) c.1789C>A (p.Leu597Ile) n.2655C>A n.2594C>A n.2548C>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.25240307_25240308delinsGA | CA1239265106 | DNMT3A | c.635_636delinsTC c.1462_1463delinsTC (n.1462_1463delinsTC) c.1647_1648delinsTC (p.Phe549=) c.2316_2317delinsTC (p.Phe772=) c.1749_1750delinsTC (p.Phe583=) n.535_536delinsTC n.688_689delinsTC n.635_636delinsTC n.316_317delinsTC n.310+332_310+333delinsTC c.1872_1873delinsTC (p.Phe624=) c.2169_2170delinsTC (p.Phe723=) c.2151_2152delinsTC (p.Phe717=) c.1860_1861delinsTC (p.Phe620=) c.1788_1789delinsTC (p.Phe596=) n.2654_2655delinsTC n.2593_2594delinsTC n.2547_2548delinsTC | |
2 | g.25240308A= | CA1239265109 | DNMT3A | c.635T= c.1462T= (n.1462T=) c.1647T= (p.Phe549=) c.2316T= (p.Phe772=) c.1749T= (p.Phe583=) n.535T= n.688T= n.635T= n.316T= n.310+332T= c.1872T= (p.Phe624=) c.2169T= (p.Phe723=) c.2151T= (p.Phe717=) c.1860T= (p.Phe620=) c.1788T= (p.Phe596=) n.2654T= n.2593T= n.2547T= | |
2 | g.25240308A>C | CA346069623 | DNMT3A | c.635T>G c.1462T>G (n.1462T>G) c.1647T>G (p.Phe549Leu) c.2316T>G (p.Phe772Leu) c.1749T>G (p.Phe583Leu) n.535T>G n.688T>G n.635T>G n.316T>G n.310+332T>G c.1872T>G (p.Phe624Leu) c.2169T>G (p.Phe723Leu) c.2151T>G (p.Phe717Leu) c.1860T>G (p.Phe620Leu) c.1788T>G (p.Phe596Leu) n.2654T>G n.2593T>G n.2547T>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25240308A>G | CA425181395 | DNMT3A | c.635T>C c.1462T>C (n.1462T>C) c.1647T>C (p.Phe549=) c.2316T>C (p.Phe772=) c.1749T>C (p.Phe583=) n.535T>C n.688T>C n.635T>C n.316T>C n.310+332T>C c.1872T>C (p.Phe624=) c.2169T>C (p.Phe723=) c.2151T>C (p.Phe717=) c.1860T>C (p.Phe620=) c.1788T>C (p.Phe596=) n.2654T>C n.2593T>C n.2547T>C | |
2 | g.25240308A>T | CA346069624 | DNMT3A | c.635T>A c.1462T>A (n.1462T>A) c.1647T>A (p.Phe549Leu) c.2316T>A (p.Phe772Leu) c.1749T>A (p.Phe583Leu) n.535T>A n.688T>A n.635T>A n.316T>A n.310+332T>A c.1872T>A (p.Phe624Leu) c.2169T>A (p.Phe723Leu) c.2151T>A (p.Phe717Leu) c.1860T>A (p.Phe620Leu) c.1788T>A (p.Phe596Leu) n.2654T>A n.2593T>A n.2547T>A | gnomAD v4 |
2 | g.25240310del | CA1239265107 | DNMT3A | c.635del c.1462del (n.1462del) c.1647del (p.Leu550SerfsTer6) c.2316del (p.Leu773SerfsTer6) c.1749del (p.Leu584SerfsTer6) c.2316del (p.Leu773SerfsTer?) n.535del n.688del n.635del n.316del n.310+332del c.1872del (p.Leu625SerfsTer6) c.2169del (p.Leu724SerfsTer6) c.2151del (p.Leu718SerfsTer6) c.1860del (p.Leu621SerfsTer6) c.1788del (p.Leu597SerfsTer6) n.2654del n.2593del n.2547del | dbSNP |
2 | g.25240309_25240310del | CA2658171698 | DNMT3A | c.634_635del c.1461_1462del (n.1461_1462del) c.1646_1647del (p.Phe549SerfsTer9) c.2315_2316del (p.Phe772SerfsTer9) c.1748_1749del (p.Phe583SerfsTer9) c.2315_2316del (p.Phe772SerfsTer6) n.534_535del n.687_688del n.634_635del n.315_316del n.310+331_310+332del c.1871_1872del (p.Phe624SerfsTer9) c.2168_2169del (p.Phe723SerfsTer9) c.2150_2151del (p.Phe717SerfsTer9) c.1859_1860del (p.Phe620SerfsTer9) c.1787_1788del (p.Phe596SerfsTer9) n.2653_2654del n.2592_2593del n.2546_2547del | gnomAD v4 |
2 | g.25240309A= | CA1239265111 | DNMT3A | c.634T= c.1461T= (n.1461T=) c.1646T= (p.Phe549=) c.2315T= (p.Phe772=) c.1748T= (p.Phe583=) n.534T= n.687T= n.634T= n.315T= n.310+331T= c.1871T= (p.Phe624=) c.2168T= (p.Phe723=) c.2150T= (p.Phe717=) c.1859T= (p.Phe620=) c.1787T= (p.Phe596=) n.2653T= n.2592T= n.2546T= | |
2 | g.25240309A>C | CA346069626 | DNMT3A | c.634T>G c.1461T>G (n.1461T>G) c.1646T>G (p.Phe549Cys) c.2315T>G (p.Phe772Cys) c.1748T>G (p.Phe583Cys) n.534T>G n.687T>G n.634T>G n.315T>G n.310+331T>G c.1871T>G (p.Phe624Cys) c.2168T>G (p.Phe723Cys) c.2150T>G (p.Phe717Cys) c.1859T>G (p.Phe620Cys) c.1787T>G (p.Phe596Cys) n.2653T>G n.2592T>G n.2546T>G | |
2 | g.25240309A>G | CA346069628 | DNMT3A | c.634T>C c.1461T>C (n.1461T>C) c.1646T>C (p.Phe549Ser) c.2315T>C (p.Phe772Ser) c.1748T>C (p.Phe583Ser) n.534T>C n.687T>C n.634T>C n.315T>C n.310+331T>C c.1871T>C (p.Phe624Ser) c.2168T>C (p.Phe723Ser) c.2150T>C (p.Phe717Ser) c.1859T>C (p.Phe620Ser) c.1787T>C (p.Phe596Ser) n.2653T>C n.2592T>C n.2546T>C | dbSNP gnomAD v4 |
2 | g.25240309A>T | CA346069630 | DNMT3A | c.634T>A c.1461T>A (n.1461T>A) c.1646T>A (p.Phe549Tyr) c.2315T>A (p.Phe772Tyr) c.1748T>A (p.Phe583Tyr) n.534T>A n.687T>A n.634T>A n.315T>A n.310+331T>A c.1871T>A (p.Phe624Tyr) c.2168T>A (p.Phe723Tyr) c.2150T>A (p.Phe717Tyr) c.1859T>A (p.Phe620Tyr) c.1787T>A (p.Phe596Tyr) n.2653T>A n.2592T>A n.2546T>A | |
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.25240310A= | CA1239265113 | DNMT3A | c.633T= c.1460T= (n.1460T=) c.1645T= (p.Phe549=) c.2314T= (p.Phe772=) c.1747T= (p.Phe583=) n.533T= n.686T= n.633T= n.314T= n.310+330T= c.1870T= (p.Phe624=) c.2167T= (p.Phe723=) c.2149T= (p.Phe717=) c.1858T= (p.Phe620=) c.1786T= (p.Phe596=) n.2652T= n.2591T= n.2545T= | |
2 | g.25240310A>C | CA346069632 | DNMT3A | c.633T>G c.1460T>G (n.1460T>G) c.1645T>G (p.Phe549Val) c.2314T>G (p.Phe772Val) c.1747T>G (p.Phe583Val) n.533T>G n.686T>G n.633T>G n.314T>G n.310+330T>G c.1870T>G (p.Phe624Val) c.2167T>G (p.Phe723Val) c.2149T>G (p.Phe717Val) c.1858T>G (p.Phe620Val) c.1786T>G (p.Phe596Val) n.2652T>G n.2591T>G n.2545T>G | |
2 | g.25240310A>G | CA346069634 | DNMT3A | c.633T>C c.1460T>C (n.1460T>C) c.1645T>C (p.Phe549Leu) c.2314T>C (p.Phe772Leu) c.1747T>C (p.Phe583Leu) n.533T>C n.686T>C n.633T>C n.314T>C n.310+330T>C c.1870T>C (p.Phe624Leu) c.2167T>C (p.Phe723Leu) c.2149T>C (p.Phe717Leu) c.1858T>C (p.Phe620Leu) c.1786T>C (p.Phe596Leu) n.2652T>C n.2591T>C n.2545T>C | dbSNP gnomAD v4 |
2 | g.25240310A>T | CA346069636 | DNMT3A | c.633T>A c.1460T>A (n.1460T>A) c.1645T>A (p.Phe549Ile) c.2314T>A (p.Phe772Ile) c.1747T>A (p.Phe583Ile) n.533T>A n.686T>A n.633T>A n.314T>A n.310+330T>A c.1870T>A (p.Phe624Ile) c.2167T>A (p.Phe723Ile) c.2149T>A (p.Phe717Ile) c.1858T>A (p.Phe620Ile) c.1786T>A (p.Phe596Ile) n.2652T>A n.2591T>A n.2545T>A | gnomAD v3 gnomAD v4 COSMIC |
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.25240311T>A | CA425181396 | DNMT3A | c.632A>T c.1459A>T (n.1459A>T) c.1644A>T (p.Arg548=) c.2313A>T (p.Arg771=) c.1746A>T (p.Arg582=) n.532A>T n.685A>T n.632A>T n.313A>T n.310+329A>T c.1869A>T (p.Arg623=) c.2166A>T (p.Arg722=) c.2148A>T (p.Arg716=) c.1857A>T (p.Arg619=) c.1785A>T (p.Arg595=) n.2651A>T n.2590A>T n.2544A>T | |
2 | g.25240311T>C | CA425181397 | DNMT3A | c.632A>G c.1459A>G (n.1459A>G) c.1644A>G (p.Arg548=) c.2313A>G (p.Arg771=) c.1746A>G (p.Arg582=) n.532A>G n.685A>G n.632A>G n.313A>G n.310+329A>G c.1869A>G (p.Arg623=) c.2166A>G (p.Arg722=) c.2148A>G (p.Arg716=) c.1857A>G (p.Arg619=) c.1785A>G (p.Arg595=) n.2651A>G n.2590A>G n.2544A>G | |
2 | g.25240311T>G | CA425181398 | DNMT3A | c.632A>C c.1459A>C (n.1459A>C) c.1644A>C (p.Arg548=) c.2313A>C (p.Arg771=) c.1746A>C (p.Arg582=) n.532A>C n.685A>C n.632A>C n.313A>C n.310+329A>C c.1869A>C (p.Arg623=) c.2166A>C (p.Arg722=) c.2148A>C (p.Arg716=) c.1857A>C (p.Arg619=) c.1785A>C (p.Arg595=) n.2651A>C n.2590A>C n.2544A>C | |
2 | g.25240311T= | CA1239265116 | DNMT3A | c.632A= c.1459A= (n.1459A=) c.1644A= (p.Arg548=) c.2313A= (p.Arg771=) c.1746A= (p.Arg582=) n.532A= n.685A= n.632A= n.313A= n.310+329A= c.1869A= (p.Arg623=) c.2166A= (p.Arg722=) c.2148A= (p.Arg716=) c.1857A= (p.Arg619=) c.1785A= (p.Arg595=) n.2651A= n.2590A= n.2544A= | |
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_25240315del | CA2749204346 | DNMT3A | c.628_632del c.1455_1459del (n.1455_1459del) c.1640_1644del (p.Ser547PhefsTer10) c.2309_2313del (p.Ser770PhefsTer10) c.1742_1746del (p.Ser581PhefsTer10) c.2309_2313del (p.Ser770PhefsTer7) n.528_532del n.681_685del n.628_632del n.309_313del n.310+325_310+329del c.1865_1869del (p.Ser622PhefsTer10) c.2162_2166del (p.Ser721PhefsTer10) c.2144_2148del (p.Ser715PhefsTer10) c.1853_1857del (p.Ser618PhefsTer10) c.1781_1785del (p.Ser594PhefsTer10) n.2647_2651del n.2586_2590del n.2540_2544del | |
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= | |
2 | g.25240318A>C | CA43698607 | DNMT3A | c.625T>G c.1452T>G (n.1452T>G) c.1637T>G (p.Ile546Ser) c.2306T>G (p.Ile769Ser) c.1739T>G (p.Ile580Ser) n.525T>G n.678T>G n.625T>G n.306T>G n.310+322T>G c.1862T>G (p.Ile621Ser) c.2159T>G (p.Ile720Ser) c.2141T>G (p.Ile714Ser) c.1850T>G (p.Ile617Ser) c.1778T>G (p.Ile593Ser) n.2644T>G n.2583T>G n.2537T>G | dbSNP gnomAD v4 |
2 | g.25240318A>G | CA1555662 | DNMT3A | c.625T>C c.1452T>C (n.1452T>C) c.1637T>C (p.Ile546Thr) c.2306T>C (p.Ile769Thr) c.1739T>C (p.Ile580Thr) n.525T>C n.678T>C n.625T>C n.306T>C n.310+322T>C c.1862T>C (p.Ile621Thr) c.2159T>C (p.Ile720Thr) c.2141T>C (p.Ile714Thr) c.1850T>C (p.Ile617Thr) c.1778T>C (p.Ile593Thr) n.2644T>C n.2583T>C n.2537T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25240318A>T | CA346069663 | DNMT3A | c.625T>A c.1452T>A (n.1452T>A) c.1637T>A (p.Ile546Asn) c.2306T>A (p.Ile769Asn) c.1739T>A (p.Ile580Asn) n.525T>A n.678T>A n.625T>A n.306T>A n.310+322T>A c.1862T>A (p.Ile621Asn) c.2159T>A (p.Ile720Asn) c.2141T>A (p.Ile714Asn) c.1850T>A (p.Ile617Asn) c.1778T>A (p.Ile593Asn) n.2644T>A n.2583T>A n.2537T>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25240318dup | CA2658171825 | DNMT3A | c.625dup c.1452dup (n.1452dup) c.1637dup (p.Ser547LeufsTer12) c.2306dup (p.Ser770LeufsTer12) c.1739dup (p.Ser581LeufsTer12) c.2306dup (p.Ser770LeufsTer9) n.525dup n.678dup n.625dup n.306dup n.310+322dup c.1862dup (p.Ser622LeufsTer12) c.2159dup (p.Ser721LeufsTer12) c.2141dup (p.Ser715LeufsTer12) c.1850dup (p.Ser618LeufsTer12) c.1778dup (p.Ser594LeufsTer12) n.2644dup n.2583dup n.2537dup | gnomAD v4 |
2 | g.25240319del | CA2658171834 | DNMT3A | c.624del c.1451del (n.1451del) c.1636del (p.Ile546SerfsTer10) c.2305del (p.Ile769SerfsTer10) c.1738del (p.Ile580SerfsTer10) c.2305del (p.Ile769SerfsTer?) n.524del n.677del n.624del n.305del n.310+321del c.1861del (p.Ile621SerfsTer10) c.2158del (p.Ile720SerfsTer10) c.2140del (p.Ile714SerfsTer10) c.1849del (p.Ile617SerfsTer10) c.1777del (p.Ile593SerfsTer10) n.2643del n.2582del n.2536del | gnomAD v4 |
2 | g.25240319T>A | CA346069666 | DNMT3A | c.624A>T c.1451A>T (n.1451A>T) c.1636A>T (p.Ile546Phe) c.2305A>T (p.Ile769Phe) c.1738A>T (p.Ile580Phe) n.524A>T n.677A>T n.624A>T n.305A>T n.310+321A>T c.1861A>T (p.Ile621Phe) c.2158A>T (p.Ile720Phe) c.2140A>T (p.Ile714Phe) c.1849A>T (p.Ile617Phe) c.1777A>T (p.Ile593Phe) n.2643A>T n.2582A>T n.2536A>T | |
2 | g.25240319T>C | CA346069668 | DNMT3A | c.624A>G c.1451A>G (n.1451A>G) c.1636A>G (p.Ile546Val) c.2305A>G (p.Ile769Val) c.1738A>G (p.Ile580Val) n.524A>G n.677A>G n.624A>G n.305A>G n.310+321A>G c.1861A>G (p.Ile621Val) c.2158A>G (p.Ile720Val) c.2140A>G (p.Ile714Val) c.1849A>G (p.Ile617Val) c.1777A>G (p.Ile593Val) n.2643A>G n.2582A>G n.2536A>G | dbSNP |
2 | g.25240319T>G | CA346069669 | DNMT3A | c.624A>C c.1451A>C (n.1451A>C) c.1636A>C (p.Ile546Leu) c.2305A>C (p.Ile769Leu) c.1738A>C (p.Ile580Leu) n.524A>C n.677A>C n.624A>C n.305A>C n.310+321A>C c.1861A>C (p.Ile621Leu) c.2158A>C (p.Ile720Leu) c.2140A>C (p.Ile714Leu) c.1849A>C (p.Ile617Leu) c.1777A>C (p.Ile593Leu) n.2643A>C n.2582A>C n.2536A>C | |
2 | g.25240319T= | CA1239265142 | DNMT3A | c.624A= c.1451A= (n.1451A=) c.1636A= (p.Ile546=) c.2305A= (p.Ile769=) c.1738A= (p.Ile580=) n.524A= n.677A= n.624A= n.305A= n.310+321A= c.1861A= (p.Ile621=) c.2158A= (p.Ile720=) c.2140A= (p.Ile714=) c.1849A= (p.Ile617=) c.1777A= (p.Ile593=) n.2643A= n.2582A= n.2536A= | |
2 | g.25240320G>A | CA425181406 | DNMT3A | c.623C>T c.1450C>T (n.1450C>T) c.1635C>T (p.Asp545=) c.2304C>T (p.Asp768=) c.1737C>T (p.Asp579=) n.523C>T n.676C>T n.623C>T n.304C>T n.310+320C>T c.1860C>T (p.Asp620=) c.2157C>T (p.Asp719=) c.2139C>T (p.Asp713=) c.1848C>T (p.Asp616=) c.1776C>T (p.Asp592=) n.2642C>T n.2581C>T n.2535C>T | dbSNP |
2 | g.25240320G>C | CA346069672 | DNMT3A | c.623C>G c.1450C>G (n.1450C>G) c.1635C>G (p.Asp545Glu) c.2304C>G (p.Asp768Glu) c.1737C>G (p.Asp579Glu) n.523C>G n.676C>G n.623C>G n.304C>G n.310+320C>G c.1860C>G (p.Asp620Glu) c.2157C>G (p.Asp719Glu) c.2139C>G (p.Asp713Glu) c.1848C>G (p.Asp616Glu) c.1776C>G (p.Asp592Glu) n.2642C>G n.2581C>G n.2535C>G | |
2 | g.25240320G= | CA1239265143 | DNMT3A | c.623C= c.1450C= (n.1450C=) c.1635C= (p.Asp545=) c.2304C= (p.Asp768=) c.1737C= (p.Asp579=) n.523C= n.676C= n.623C= n.304C= n.310+320C= c.1860C= (p.Asp620=) c.2157C= (p.Asp719=) c.2139C= (p.Asp713=) c.1848C= (p.Asp616=) c.1776C= (p.Asp592=) n.2642C= n.2581C= n.2535C= | |
2 | g.25240320G>T | CA346069674 | DNMT3A | c.623C>A c.1450C>A (n.1450C>A) c.1635C>A (p.Asp545Glu) c.2304C>A (p.Asp768Glu) c.1737C>A (p.Asp579Glu) n.523C>A n.676C>A n.623C>A n.304C>A n.310+320C>A c.1860C>A (p.Asp620Glu) c.2157C>A (p.Asp719Glu) c.2139C>A (p.Asp713Glu) c.1848C>A (p.Asp616Glu) c.1776C>A (p.Asp592Glu) n.2642C>A n.2581C>A n.2535C>A | dbSNP gnomAD v4 |
2 | g.25240321del | CA2658171848 | DNMT3A | c.622del c.1449del (n.1449del) c.1634del (p.Asp545AlafsTer11) c.2303del (p.Asp768AlafsTer11) c.1736del (p.Asp579AlafsTer11) c.2303del (p.Asp768AlafsTer?) n.522del n.675del n.622del n.303del n.310+319del c.1859del (p.Asp620AlafsTer11) c.2156del (p.Asp719AlafsTer11) c.2138del (p.Asp713AlafsTer11) c.1847del (p.Asp616AlafsTer11) c.1775del (p.Asp592AlafsTer11) n.2641del n.2580del n.2534del | gnomAD v4 |
2 | g.25240321T>A | CA346069681 | DNMT3A | c.622A>T c.1449A>T (n.1449A>T) c.1634A>T (p.Asp545Val) c.2303A>T (p.Asp768Val) c.1736A>T (p.Asp579Val) n.522A>T n.675A>T n.622A>T n.303A>T n.310+319A>T c.1859A>T (p.Asp620Val) c.2156A>T (p.Asp719Val) c.2138A>T (p.Asp713Val) c.1847A>T (p.Asp616Val) c.1775A>T (p.Asp592Val) n.2641A>T n.2580A>T n.2534A>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25240321T>C | CA346069679 | DNMT3A | c.622A>G c.1449A>G (n.1449A>G) c.1634A>G (p.Asp545Gly) c.2303A>G (p.Asp768Gly) c.1736A>G (p.Asp579Gly) n.522A>G n.675A>G n.622A>G n.303A>G n.310+319A>G c.1859A>G (p.Asp620Gly) c.2156A>G (p.Asp719Gly) c.2138A>G (p.Asp713Gly) c.1847A>G (p.Asp616Gly) c.1775A>G (p.Asp592Gly) n.2641A>G n.2580A>G n.2534A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25240321T>G | CA346069677 | DNMT3A | c.622A>C c.1449A>C (n.1449A>C) c.1634A>C (p.Asp545Ala) c.2303A>C (p.Asp768Ala) c.1736A>C (p.Asp579Ala) n.522A>C n.675A>C n.622A>C n.303A>C n.310+319A>C c.1859A>C (p.Asp620Ala) c.2156A>C (p.Asp719Ala) c.2138A>C (p.Asp713Ala) c.1847A>C (p.Asp616Ala) c.1775A>C (p.Asp592Ala) n.2641A>C n.2580A>C n.2534A>C | |
2 | g.25240321T= | CA1239265145 | DNMT3A | c.622A= c.1449A= (n.1449A=) c.1634A= (p.Asp545=) c.2303A= (p.Asp768=) c.1736A= (p.Asp579=) n.522A= n.675A= n.622A= n.303A= n.310+319A= c.1859A= (p.Asp620=) c.2156A= (p.Asp719=) c.2138A= (p.Asp713=) c.1847A= (p.Asp616=) c.1775A= (p.Asp592=) n.2641A= n.2580A= n.2534A= | |
2 | g.25240322C>A | CA1555663 | DNMT3A | c.621G>T c.1448G>T (n.1448G>T) c.1633G>T (p.Asp545Tyr) c.2302G>T (p.Asp768Tyr) c.1735G>T (p.Asp579Tyr) n.521G>T n.674G>T n.621G>T n.302G>T n.310+318G>T c.1858G>T (p.Asp620Tyr) c.2155G>T (p.Asp719Tyr) c.2137G>T (p.Asp713Tyr) c.1846G>T (p.Asp616Tyr) c.1774G>T (p.Asp592Tyr) n.2640G>T n.2579G>T n.2533G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25240322C= | CA1239265149 | DNMT3A | c.621G= c.1448G= (n.1448G=) c.1633G= (p.Asp545=) c.2302G= (p.Asp768=) c.1735G= (p.Asp579=) n.521G= n.674G= n.621G= n.302G= n.310+318G= c.1858G= (p.Asp620=) c.2155G= (p.Asp719=) c.2137G= (p.Asp713=) c.1846G= (p.Asp616=) c.1774G= (p.Asp592=) n.2640G= n.2579G= n.2533G= | |
2 | g.25240322C>G | CA43698617 | DNMT3A | c.621G>C c.1448G>C (n.1448G>C) c.1633G>C (p.Asp545His) c.2302G>C (p.Asp768His) c.1735G>C (p.Asp579His) n.521G>C n.674G>C n.621G>C n.302G>C n.310+318G>C c.1858G>C (p.Asp620His) c.2155G>C (p.Asp719His) c.2137G>C (p.Asp713His) c.1846G>C (p.Asp616His) c.1774G>C (p.Asp592His) n.2640G>C n.2579G>C n.2533G>C | dbSNP gnomAD v4 |
2 | g.25240322C>T | CA346069685 | DNMT3A | c.621G>A c.1448G>A (n.1448G>A) c.1633G>A (p.Asp545Asn) c.2302G>A (p.Asp768Asn) c.1735G>A (p.Asp579Asn) n.521G>A n.674G>A n.621G>A n.302G>A n.310+318G>A c.1858G>A (p.Asp620Asn) c.2155G>A (p.Asp719Asn) c.2137G>A (p.Asp713Asn) c.1846G>A (p.Asp616Asn) c.1774G>A (p.Asp592Asn) n.2640G>A n.2579G>A n.2533G>A | dbSNP gnomAD v4 |
2 | g.25240324dup | CA2838216060 | DNMT3A | c.621dup c.1448dup (n.1448dup) c.1633dup (p.Asp545GlyfsTer14) c.2302dup (p.Asp768GlyfsTer14) c.1735dup (p.Asp579GlyfsTer14) c.2302dup (p.Asp768GlyfsTer11) n.521dup n.674dup n.621dup n.302dup n.310+318dup c.1858dup (p.Asp620GlyfsTer14) c.2155dup (p.Asp719GlyfsTer14) c.2137dup (p.Asp713GlyfsTer14) c.1846dup (p.Asp616GlyfsTer14) c.1774dup (p.Asp592GlyfsTer14) n.2640dup n.2579dup n.2533dup | |
2 | g.25240324del | CA425181407 | DNMT3A | c.621del c.1448del (n.1448del) c.1633del (p.Asp545ThrfsTer11) c.2302del (p.Asp768ThrfsTer11) c.1735del (p.Asp579ThrfsTer11) c.2302del (p.Asp768ThrfsTer?) n.521del n.674del n.621del n.302del n.310+318del c.1858del (p.Asp620ThrfsTer11) c.2155del (p.Asp719ThrfsTer11) c.2137del (p.Asp713ThrfsTer11) c.1846del (p.Asp616ThrfsTer11) c.1774del (p.Asp592ThrfsTer11) n.2640del n.2579del n.2533del | COSMIC |
2 | g.25240322_25240323insGACA | CA1028506260 | DNMT3A | c.620_621insTGTC c.1447_1448insTGTC (n.1447_1448insTGTC) c.1632_1633insTGTC (p.Asp545CysfsTer15) c.2301_2302insTGTC (p.Asp768CysfsTer15) c.1734_1735insTGTC (p.Asp579CysfsTer15) c.2301_2302insTGTC (p.Asp768CysfsTer12) n.520_521insTGTC n.673_674insTGTC n.620_621insTGTC n.301_302insTGTC n.310+317_310+318insTGTC c.1857_1858insTGTC (p.Asp620CysfsTer15) c.2154_2155insTGTC (p.Asp719CysfsTer15) c.2136_2137insTGTC (p.Asp713CysfsTer15) c.1845_1846insTGTC (p.Asp616CysfsTer15) c.1773_1774insTGTC (p.Asp592CysfsTer15) n.2639_2640insTGTC n.2578_2579insTGTC n.2532_2533insTGTC | gnomAD v3 gnomAD v4 |
2 | g.25240323C>A | CA346069689 | DNMT3A | c.620G>T c.1447G>T (n.1447G>T) c.1632G>T (p.Arg544Ser) c.2301G>T (p.Arg767Ser) c.1734G>T (p.Arg578Ser) n.520G>T n.673G>T n.620G>T n.301G>T n.310+317G>T c.1857G>T (p.Arg619Ser) c.2154G>T (p.Arg718Ser) c.2136G>T (p.Arg712Ser) c.1845G>T (p.Arg615Ser) c.1773G>T (p.Arg591Ser) n.2639G>T n.2578G>T n.2532G>T | |
2 | g.25240323C>G | CA346069696 | DNMT3A | c.620G>C c.1447G>C (n.1447G>C) c.1632G>C (p.Arg544Ser) c.2301G>C (p.Arg767Ser) c.1734G>C (p.Arg578Ser) n.520G>C n.673G>C n.620G>C n.301G>C n.310+317G>C c.1857G>C (p.Arg619Ser) c.2154G>C (p.Arg718Ser) c.2136G>C (p.Arg712Ser) c.1845G>C (p.Arg615Ser) c.1773G>C (p.Arg591Ser) n.2639G>C n.2578G>C n.2532G>C | |
2 | g.25240323C>T | CA425181408 | DNMT3A | c.620G>A c.1447G>A (n.1447G>A) c.1632G>A (p.Arg544=) c.2301G>A (p.Arg767=) c.1734G>A (p.Arg578=) n.520G>A n.673G>A n.620G>A n.301G>A n.310+317G>A c.1857G>A (p.Arg619=) c.2154G>A (p.Arg718=) c.2136G>A (p.Arg712=) c.1845G>A (p.Arg615=) c.1773G>A (p.Arg591=) n.2639G>A n.2578G>A n.2532G>A | |
2 | g.25240323_25240359dup | CA2658171865 | DNMT3A | c.584_620dup c.1411_1447dup (n.1411_1447dup) c.1596_1632dup (p.Asp545Ter) c.2265_2301dup (p.Asp768Ter) c.1698_1734dup (p.Asp579Ter) n.484_520dup n.637_673dup n.584_620dup n.265_301dup n.310+281_310+317dup c.1821_1857dup (p.Asp620Ter) c.2118_2154dup (p.Asp719Ter) c.2100_2136dup (p.Asp713Ter) c.1809_1845dup (p.Asp616Ter) c.1737_1773dup (p.Asp592Ter) n.2603_2639dup n.2542_2578dup n.2496_2532dup | gnomAD v4 |
2 | g.25240324C>A | CA346069699 | DNMT3A | c.619G>T c.1446G>T (n.1446G>T) c.1631G>T (p.Arg544Met) c.2300G>T (p.Arg767Met) c.1733G>T (p.Arg578Met) n.519G>T n.672G>T n.619G>T n.300G>T n.310+316G>T c.1856G>T (p.Arg619Met) c.2153G>T (p.Arg718Met) c.2135G>T (p.Arg712Met) c.1844G>T (p.Arg615Met) c.1772G>T (p.Arg591Met) n.2638G>T n.2577G>T n.2531G>T | |
2 | g.25240324C>G | CA346069700 | DNMT3A | c.619G>C c.1446G>C (n.1446G>C) c.1631G>C (p.Arg544Thr) c.2300G>C (p.Arg767Thr) c.1733G>C (p.Arg578Thr) n.519G>C n.672G>C n.619G>C n.300G>C n.310+316G>C c.1856G>C (p.Arg619Thr) c.2153G>C (p.Arg718Thr) c.2135G>C (p.Arg712Thr) c.1844G>C (p.Arg615Thr) c.1772G>C (p.Arg591Thr) n.2638G>C n.2577G>C n.2531G>C | |
2 | g.25240324C>T | CA346069701 | DNMT3A | c.619G>A c.1446G>A (n.1446G>A) c.1631G>A (p.Arg544Lys) c.2300G>A (p.Arg767Lys) c.1733G>A (p.Arg578Lys) n.519G>A n.672G>A n.619G>A n.300G>A n.310+316G>A c.1856G>A (p.Arg619Lys) c.2153G>A (p.Arg718Lys) c.2135G>A (p.Arg712Lys) c.1844G>A (p.Arg615Lys) c.1772G>A (p.Arg591Lys) n.2638G>A n.2577G>A n.2531G>A | dbSNP |
2 | g.25240324_25240327delinsCTCT | CA1239265150 | DNMT3A | c.616_619delinsAGAG c.1443_1446delinsAGAG (n.1443_1446delinsAGAG) c.1628_1631delinsAGAG (p.Lys543=) c.2297_2300delinsAGAG (p.Lys766=) c.1730_1733delinsAGAG (p.Lys577=) n.516_519delinsAGAG n.669_672delinsAGAG n.616_619delinsAGAG n.297_300delinsAGAG n.310+313_310+316delinsAGAG c.1853_1856delinsAGAG (p.Lys618=) c.2150_2153delinsAGAG (p.Lys717=) c.2132_2135delinsAGAG (p.Lys711=) c.1841_1844delinsAGAG (p.Lys614=) c.1769_1772delinsAGAG (p.Lys590=) n.2635_2638delinsAGAG n.2574_2577delinsAGAG n.2528_2531delinsAGAG | |
2 | g.25240325del | CA425181410 | DNMT3A | c.618del c.1445del (n.1445del) c.1630del (p.Arg544GlyfsTer12) c.2299del (p.Arg767GlyfsTer12) c.1732del (p.Arg578GlyfsTer12) c.2299del (p.Arg767GlyfsTer?) n.518del n.671del n.618del n.299del n.310+315del c.1855del (p.Arg619GlyfsTer12) c.2152del (p.Arg718GlyfsTer12) c.2134del (p.Arg712GlyfsTer12) c.1843del (p.Arg615GlyfsTer12) c.1771del (p.Arg591GlyfsTer12) n.2637del n.2576del n.2530del | gnomAD v4 COSMIC |
2 | g.25240325T>A | CA346069704 | DNMT3A | c.618A>T c.1445A>T (n.1445A>T) c.1630A>T (p.Arg544Trp) c.2299A>T (p.Arg767Trp) c.1732A>T (p.Arg578Trp) n.518A>T n.671A>T n.618A>T n.299A>T n.310+315A>T c.1855A>T (p.Arg619Trp) c.2152A>T (p.Arg718Trp) c.2134A>T (p.Arg712Trp) c.1843A>T (p.Arg615Trp) c.1771A>T (p.Arg591Trp) n.2637A>T n.2576A>T n.2530A>T | |
2 | g.25240325T>C | CA346069706 | DNMT3A | c.618A>G c.1445A>G (n.1445A>G) c.1630A>G (p.Arg544Gly) c.2299A>G (p.Arg767Gly) c.1732A>G (p.Arg578Gly) n.518A>G n.671A>G n.618A>G n.299A>G n.310+315A>G c.1855A>G (p.Arg619Gly) c.2152A>G (p.Arg718Gly) c.2134A>G (p.Arg712Gly) c.1843A>G (p.Arg615Gly) c.1771A>G (p.Arg591Gly) n.2637A>G n.2576A>G n.2530A>G | dbSNP gnomAD v4 |
2 | g.25240325T>G | CA425181409 | DNMT3A | c.618A>C c.1445A>C (n.1445A>C) c.1630A>C (p.Arg544=) c.2299A>C (p.Arg767=) c.1732A>C (p.Arg578=) n.518A>C n.671A>C n.618A>C n.299A>C n.310+315A>C c.1855A>C (p.Arg619=) c.2152A>C (p.Arg718=) c.2134A>C (p.Arg712=) c.1843A>C (p.Arg615=) c.1771A>C (p.Arg591=) n.2637A>C n.2576A>C n.2530A>C | |
2 | g.25240326_25240328del | CA767173224 | DNMT3A | c.616_618del c.1443_1445del (n.1443_1445del) c.1628_1630del (p.Lys543del) c.2297_2299del (p.Lys766del) c.1730_1732del (p.Lys577del) n.516_518del n.669_671del n.616_618del n.297_299del n.310+313_310+315del c.1853_1855del (p.Lys618del) c.2150_2152del (p.Lys717del) c.2132_2134del (p.Lys711del) c.1841_1843del (p.Lys614del) c.1769_1771del (p.Lys590del) n.2635_2637del n.2574_2576del n.2528_2530del | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25240327_25240331del | CA2576693896 | DNMT3A | c.614_618del c.1441_1445del (n.1441_1445del) c.1626_1630del (p.Asp542GlufsTer15) c.2295_2299del (p.Asp765GlufsTer15) c.1728_1732del (p.Asp576GlufsTer15) c.2295_2299del (p.Asp765GlufsTer12) n.514_518del n.667_671del n.614_618del n.295_299del n.310+311_310+315del c.1851_1855del (p.Asp617GlufsTer15) c.2148_2152del (p.Asp716GlufsTer15) c.2130_2134del (p.Asp710GlufsTer15) c.1839_1843del (p.Asp613GlufsTer15) c.1767_1771del (p.Asp589GlufsTer15) n.2633_2637del n.2572_2576del n.2526_2530del | |
2 | g.25240326C>A | CA346069709 | DNMT3A | c.617G>T c.1444G>T (n.1444G>T) c.1629G>T (p.Lys543Asn) c.2298G>T (p.Lys766Asn) c.1731G>T (p.Lys577Asn) n.517G>T n.670G>T n.617G>T n.298G>T n.310+314G>T c.1854G>T (p.Lys618Asn) c.2151G>T (p.Lys717Asn) c.2133G>T (p.Lys711Asn) c.1842G>T (p.Lys614Asn) c.1770G>T (p.Lys590Asn) n.2636G>T n.2575G>T n.2529G>T | dbSNP gnomAD v4 |
2 | g.25240326C>G | CA346069711 | DNMT3A | c.617G>C c.1444G>C (n.1444G>C) c.1629G>C (p.Lys543Asn) c.2298G>C (p.Lys766Asn) c.1731G>C (p.Lys577Asn) n.517G>C n.670G>C n.617G>C n.298G>C n.310+314G>C c.1854G>C (p.Lys618Asn) c.2151G>C (p.Lys717Asn) c.2133G>C (p.Lys711Asn) c.1842G>C (p.Lys614Asn) c.1770G>C (p.Lys590Asn) n.2636G>C n.2575G>C n.2529G>C | |
2 | g.25240326C>T | CA425181411 | DNMT3A | c.617G>A c.1444G>A (n.1444G>A) c.1629G>A (p.Lys543=) c.2298G>A (p.Lys766=) c.1731G>A (p.Lys577=) n.517G>A n.670G>A n.617G>A n.298G>A n.310+314G>A c.1854G>A (p.Lys618=) c.2151G>A (p.Lys717=) c.2133G>A (p.Lys711=) c.1842G>A (p.Lys614=) c.1770G>A (p.Lys590=) n.2636G>A n.2575G>A n.2529G>A | |
2 | g.25240326_25240328delinsCTT | CA1239265153 | DNMT3A | c.615_617delinsAAG c.1442_1444delinsAAG (n.1442_1444delinsAAG) c.1627_1629delinsAAG (p.Lys543=) c.2296_2298delinsAAG (p.Lys766=) c.1729_1731delinsAAG (p.Lys577=) n.515_517delinsAAG n.668_670delinsAAG n.615_617delinsAAG n.296_298delinsAAG n.310+312_310+314delinsAAG c.1852_1854delinsAAG (p.Lys618=) c.2149_2151delinsAAG (p.Lys717=) c.2131_2133delinsAAG (p.Lys711=) c.1840_1842delinsAAG (p.Lys614=) c.1768_1770delinsAAG (p.Lys590=) n.2634_2636delinsAAG n.2573_2575delinsAAG n.2527_2529delinsAAG | |
2 | g.25240327_25240349del | CA2838033017 | DNMT3A | c.595_617del c.1422_1444del (n.1422_1444del) c.1607_1629del (p.Val536GlufsTer15) c.2276_2298del (p.Val759GlufsTer15) c.1709_1731del (p.Val570GlufsTer15) c.2276_2298del (p.Val759GlufsTer12) n.495_517del n.648_670del n.595_617del n.276_298del n.310+292_310+314del c.1832_1854del (p.Val611GlufsTer15) c.2129_2151del (p.Val710GlufsTer15) c.2111_2133del (p.Val704GlufsTer15) c.1820_1842del (p.Val607GlufsTer15) c.1748_1770del (p.Val583GlufsTer15) n.2614_2636del n.2553_2575del n.2507_2529del | |
2 | g.25240327T>A | CA346069714 | DNMT3A | c.616A>T c.1443A>T (n.1443A>T) c.1628A>T (p.Lys543Met) c.2297A>T (p.Lys766Met) c.1730A>T (p.Lys577Met) n.516A>T n.669A>T n.616A>T n.297A>T n.310+313A>T c.1853A>T (p.Lys618Met) c.2150A>T (p.Lys717Met) c.2132A>T (p.Lys711Met) c.1841A>T (p.Lys614Met) c.1769A>T (p.Lys590Met) n.2635A>T n.2574A>T n.2528A>T | |
2 | g.25240327T>C | CA346069717 | DNMT3A | c.616A>G c.1443A>G (n.1443A>G) c.1628A>G (p.Lys543Arg) c.2297A>G (p.Lys766Arg) c.1730A>G (p.Lys577Arg) n.516A>G n.669A>G n.616A>G n.297A>G n.310+313A>G c.1853A>G (p.Lys618Arg) c.2150A>G (p.Lys717Arg) c.2132A>G (p.Lys711Arg) c.1841A>G (p.Lys614Arg) c.1769A>G (p.Lys590Arg) n.2635A>G n.2574A>G n.2528A>G | |
2 | g.25240327T>G | CA346069718 | DNMT3A | c.616A>C c.1443A>C (n.1443A>C) c.1628A>C (p.Lys543Thr) c.2297A>C (p.Lys766Thr) c.1730A>C (p.Lys577Thr) n.516A>C n.669A>C n.616A>C n.297A>C n.310+313A>C c.1853A>C (p.Lys618Thr) c.2150A>C (p.Lys717Thr) c.2132A>C (p.Lys711Thr) c.1841A>C (p.Lys614Thr) c.1769A>C (p.Lys590Thr) n.2635A>C n.2574A>C n.2528A>C | |
2 | g.25240327_25240328del | CA1555664 | DNMT3A | c.615_616del c.1442_1443del (n.1442_1443del) c.1627_1628del (p.Lys543GlufsTer15) c.2296_2297del (p.Lys766GlufsTer15) c.1729_1730del (p.Lys577GlufsTer15) c.2296_2297del (p.Lys766GlufsTer12) n.515_516del n.668_669del n.615_616del n.296_297del n.310+312_310+313del c.1852_1853del (p.Lys618GlufsTer15) c.2149_2150del (p.Lys717GlufsTer15) c.2131_2132del (p.Lys711GlufsTer15) c.1840_1841del (p.Lys614GlufsTer15) c.1768_1769del (p.Lys590GlufsTer15) n.2634_2635del n.2573_2574del n.2527_2528del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.25240328dup | CA1139654958 | DNMT3A | c.616dup c.1443dup (n.1443dup) c.1628dup (p.Arg544GlufsTer15) c.2297dup (p.Arg767GlufsTer15) c.1730dup (p.Arg578GlufsTer15) c.2297dup (p.Arg767GlufsTer12) n.516dup n.669dup n.616dup n.297dup n.310+313dup c.1853dup (p.Arg619GlufsTer15) c.2150dup (p.Arg718GlufsTer15) c.2132dup (p.Arg712GlufsTer15) c.1841dup (p.Arg615GlufsTer15) c.1769dup (p.Arg591GlufsTer15) n.2635dup n.2574dup n.2528dup | |
2 | g.25240328del | CA645515165 | DNMT3A | c.616del c.1443del (n.1443del) c.1628del (p.Lys543ArgfsTer13) c.2297del (p.Lys766ArgfsTer13) c.1730del (p.Lys577ArgfsTer13) c.2297del (p.Lys766ArgfsTer?) n.516del n.669del n.616del n.297del n.310+313del c.1853del (p.Lys618ArgfsTer13) c.2150del (p.Lys717ArgfsTer13) c.2132del (p.Lys711ArgfsTer13) c.1841del (p.Lys614ArgfsTer13) c.1769del (p.Lys590ArgfsTer13) n.2635del n.2574del n.2528del | gnomAD v4 COSMIC COSMIC |
2 | g.25240328T>A | CA346069726 | DNMT3A | c.615A>T c.1442A>T (n.1442A>T) c.1627A>T (p.Lys543Ter) c.2296A>T (p.Lys766Ter) c.1729A>T (p.Lys577Ter) n.515A>T n.668A>T n.615A>T n.296A>T n.310+312A>T c.1852A>T (p.Lys618Ter) c.2149A>T (p.Lys717Ter) c.2131A>T (p.Lys711Ter) c.1840A>T (p.Lys614Ter) c.1768A>T (p.Lys590Ter) n.2634A>T n.2573A>T n.2527A>T | |
2 | g.25240328T>C | CA346069724 | DNMT3A | c.615A>G c.1442A>G (n.1442A>G) c.1627A>G (p.Lys543Glu) c.2296A>G (p.Lys766Glu) c.1729A>G (p.Lys577Glu) n.515A>G n.668A>G n.615A>G n.296A>G n.310+312A>G c.1852A>G (p.Lys618Glu) c.2149A>G (p.Lys717Glu) c.2131A>G (p.Lys711Glu) c.1840A>G (p.Lys614Glu) c.1768A>G (p.Lys590Glu) n.2634A>G n.2573A>G n.2527A>G | gnomAD v4 |
2 | g.25240328T>G | CA346069720 | DNMT3A | c.615A>C c.1442A>C (n.1442A>C) c.1627A>C (p.Lys543Gln) c.2296A>C (p.Lys766Gln) c.1729A>C (p.Lys577Gln) n.515A>C n.668A>C n.615A>C n.296A>C n.310+312A>C c.1852A>C (p.Lys618Gln) c.2149A>C (p.Lys717Gln) c.2131A>C (p.Lys711Gln) c.1840A>C (p.Lys614Gln) c.1768A>C (p.Lys590Gln) n.2634A>C n.2573A>C n.2527A>C | |
2 | g.25240329_25240330del | CA2658171890 | DNMT3A | c.614_615del c.1441_1442del (n.1441_1442del) c.1626_1627del (p.Asp542GlufsTer16) c.2295_2296del (p.Asp765GlufsTer16) c.1728_1729del (p.Asp576GlufsTer16) c.2295_2296del (p.Asp765GlufsTer13) n.514_515del n.667_668del n.614_615del n.295_296del n.310+311_310+312del c.1851_1852del (p.Asp617GlufsTer16) c.2148_2149del (p.Asp716GlufsTer16) c.2130_2131del (p.Asp710GlufsTer16) c.1839_1840del (p.Asp613GlufsTer16) c.1767_1768del (p.Asp589GlufsTer16) n.2633_2634del n.2572_2573del n.2526_2527del | gnomAD v4 |
2 | g.25240329G>A | CA425181412 | DNMT3A | c.614C>T c.1441C>T (n.1441C>T) c.1626C>T (p.Asp542=) c.2295C>T (p.Asp765=) c.1728C>T (p.Asp576=) n.514C>T n.667C>T n.614C>T n.295C>T n.310+311C>T c.1851C>T (p.Asp617=) c.2148C>T (p.Asp716=) c.2130C>T (p.Asp710=) c.1839C>T (p.Asp613=) c.1767C>T (p.Asp589=) n.2633C>T n.2572C>T n.2526C>T | |
2 | g.25240329G>C | CA346069728 | DNMT3A | c.614C>G c.1441C>G (n.1441C>G) c.1626C>G (p.Asp542Glu) c.2295C>G (p.Asp765Glu) c.1728C>G (p.Asp576Glu) n.514C>G n.667C>G n.614C>G n.295C>G n.310+311C>G c.1851C>G (p.Asp617Glu) c.2148C>G (p.Asp716Glu) c.2130C>G (p.Asp710Glu) c.1839C>G (p.Asp613Glu) c.1767C>G (p.Asp589Glu) n.2633C>G n.2572C>G n.2526C>G | dbSNP |
2 | g.25240329G>T | CA346069729 | DNMT3A | c.614C>A c.1441C>A (n.1441C>A) c.1626C>A (p.Asp542Glu) c.2295C>A (p.Asp765Glu) c.1728C>A (p.Asp576Glu) n.514C>A n.667C>A n.614C>A n.295C>A n.310+311C>A c.1851C>A (p.Asp617Glu) c.2148C>A (p.Asp716Glu) c.2130C>A (p.Asp710Glu) c.1839C>A (p.Asp613Glu) c.1767C>A (p.Asp589Glu) n.2633C>A n.2572C>A n.2526C>A | |
2 | g.25240330T>A | CA346069730 | DNMT3A | c.613A>T c.1440A>T (n.1440A>T) c.1625A>T (p.Asp542Val) c.2294A>T (p.Asp765Val) c.1727A>T (p.Asp576Val) n.513A>T n.666A>T n.613A>T n.294A>T n.310+310A>T c.1850A>T (p.Asp617Val) c.2147A>T (p.Asp716Val) c.2129A>T (p.Asp710Val) c.1838A>T (p.Asp613Val) c.1766A>T (p.Asp589Val) n.2632A>T n.2571A>T n.2525A>T | |
2 | g.25240330T>C | CA346069731 | DNMT3A | c.613A>G c.1440A>G (n.1440A>G) c.1625A>G (p.Asp542Gly) c.2294A>G (p.Asp765Gly) c.1727A>G (p.Asp576Gly) n.513A>G n.666A>G n.613A>G n.294A>G n.310+310A>G c.1850A>G (p.Asp617Gly) c.2147A>G (p.Asp716Gly) c.2129A>G (p.Asp710Gly) c.1838A>G (p.Asp613Gly) c.1766A>G (p.Asp589Gly) n.2632A>G n.2571A>G n.2525A>G | gnomAD v4 |
2 | g.25240330T>G | CA346069733 | DNMT3A | c.613A>C c.1440A>C (n.1440A>C) c.1625A>C (p.Asp542Ala) c.2294A>C (p.Asp765Ala) c.1727A>C (p.Asp576Ala) n.513A>C n.666A>C n.613A>C n.294A>C n.310+310A>C c.1850A>C (p.Asp617Ala) c.2147A>C (p.Asp716Ala) c.2129A>C (p.Asp710Ala) c.1838A>C (p.Asp613Ala) c.1766A>C (p.Asp589Ala) n.2632A>C n.2571A>C n.2525A>C | |
2 | g.25240330dup | CA2576693898 | DNMT3A | c.613dup c.1440dup (n.1440dup) c.1625dup (p.Asp542GlufsTer17) c.2294dup (p.Asp765GlufsTer17) c.1727dup (p.Asp576GlufsTer17) c.2294dup (p.Asp765GlufsTer14) n.513dup n.666dup n.613dup n.294dup n.310+310dup c.1850dup (p.Asp617GlufsTer17) c.2147dup (p.Asp716GlufsTer17) c.2129dup (p.Asp710GlufsTer17) c.1838dup (p.Asp613GlufsTer17) c.1766dup (p.Asp589GlufsTer17) n.2632dup n.2571dup n.2525dup | |
2 | g.25240330_25240331delinsTC | CA1239265156 | DNMT3A | c.612_613delinsGA c.1439_1440delinsGA (n.1439_1440delinsGA) c.1624_1625delinsGA (p.Asp542=) c.2293_2294delinsGA (p.Asp765=) c.1726_1727delinsGA (p.Asp576=) n.512_513delinsGA n.665_666delinsGA n.612_613delinsGA n.293_294delinsGA n.310+309_310+310delinsGA c.1849_1850delinsGA (p.Asp617=) c.2146_2147delinsGA (p.Asp716=) c.2128_2129delinsGA (p.Asp710=) c.1837_1838delinsGA (p.Asp613=) c.1765_1766delinsGA (p.Asp589=) n.2631_2632delinsGA n.2570_2571delinsGA n.2524_2525delinsGA | |
2 | g.25240331del | CA1239265158 | DNMT3A | c.612del c.1439del (n.1439del) c.1624del (p.Asp542ThrfsTer14) c.2293del (p.Asp765ThrfsTer14) c.1726del (p.Asp576ThrfsTer14) c.2293del (p.Asp765ThrfsTer?) n.512del n.665del n.612del n.293del n.310+309del c.1849del (p.Asp617ThrfsTer14) c.2146del (p.Asp716ThrfsTer14) c.2128del (p.Asp710ThrfsTer14) c.1837del (p.Asp613ThrfsTer14) c.1765del (p.Asp589ThrfsTer14) n.2631del n.2570del n.2524del | dbSNP |
2 | g.25240331C>A | CA346069734 | DNMT3A | c.612G>T c.1439G>T (n.1439G>T) c.1624G>T (p.Asp542Tyr) c.2293G>T (p.Asp765Tyr) c.1726G>T (p.Asp576Tyr) n.512G>T n.665G>T n.612G>T n.293G>T n.310+309G>T c.1849G>T (p.Asp617Tyr) c.2146G>T (p.Asp716Tyr) c.2128G>T (p.Asp710Tyr) c.1837G>T (p.Asp613Tyr) c.1765G>T (p.Asp589Tyr) n.2631G>T n.2570G>T n.2524G>T | gnomAD v4 |
2 | g.25240331C>G | CA346069736 | DNMT3A | c.612G>C c.1439G>C (n.1439G>C) c.1624G>C (p.Asp542His) c.2293G>C (p.Asp765His) c.1726G>C (p.Asp576His) n.512G>C n.665G>C n.612G>C n.293G>C n.310+309G>C c.1849G>C (p.Asp617His) c.2146G>C (p.Asp716His) c.2128G>C (p.Asp710His) c.1837G>C (p.Asp613His) c.1765G>C (p.Asp589His) n.2631G>C n.2570G>C n.2524G>C | |
2 | g.25240331C>T | CA346069738 | DNMT3A | c.612G>A c.1439G>A (n.1439G>A) c.1624G>A (p.Asp542Asn) c.2293G>A (p.Asp765Asn) c.1726G>A (p.Asp576Asn) n.512G>A n.665G>A n.612G>A n.293G>A n.310+309G>A c.1849G>A (p.Asp617Asn) c.2146G>A (p.Asp716Asn) c.2128G>A (p.Asp710Asn) c.1837G>A (p.Asp613Asn) c.1765G>A (p.Asp589Asn) n.2631G>A n.2570G>A n.2524G>A | |
2 | g.25240332A>C | CA346069739 | DNMT3A | c.611T>G c.1438T>G (n.1438T>G) c.1623T>G (p.Ser541Arg) c.2292T>G (p.Ser764Arg) c.1725T>G (p.Ser575Arg) n.511T>G n.664T>G n.611T>G n.292T>G n.310+308T>G c.1848T>G (p.Ser616Arg) c.2145T>G (p.Ser715Arg) c.2127T>G (p.Ser709Arg) c.1836T>G (p.Ser612Arg) c.1764T>G (p.Ser588Arg) n.2630T>G n.2569T>G n.2523T>G | |
2 | g.25240332A>G | CA425181414 | DNMT3A | c.611T>C c.1438T>C (n.1438T>C) c.1623T>C (p.Ser541=) c.2292T>C (p.Ser764=) c.1725T>C (p.Ser575=) n.511T>C n.664T>C n.611T>C n.292T>C n.310+308T>C c.1848T>C (p.Ser616=) c.2145T>C (p.Ser715=) c.2127T>C (p.Ser709=) c.1836T>C (p.Ser612=) c.1764T>C (p.Ser588=) n.2630T>C n.2569T>C n.2523T>C | gnomAD v4 |
2 | g.25240332A>T | CA346069741 | DNMT3A | c.611T>A c.1438T>A (n.1438T>A) c.1623T>A (p.Ser541Arg) c.2292T>A (p.Ser764Arg) c.1725T>A (p.Ser575Arg) n.511T>A n.664T>A n.611T>A n.292T>A n.310+308T>A c.1848T>A (p.Ser616Arg) c.2145T>A (p.Ser715Arg) c.2127T>A (p.Ser709Arg) c.1836T>A (p.Ser612Arg) c.1764T>A (p.Ser588Arg) n.2630T>A n.2569T>A n.2523T>A | dbSNP |
2 | g.25240334_25240337del | CA2658171905 | DNMT3A | c.608_611del c.1435_1438del (n.1435_1438del) c.1620_1623del (p.Ser541ThrfsTer14) c.2289_2292del (p.Ser764ThrfsTer14) c.1722_1725del (p.Ser575ThrfsTer14) c.2289_2292del (p.Ser764ThrfsTer?) n.508_511del n.661_664del n.608_611del n.289_292del n.310+305_310+308del c.1845_1848del (p.Ser616ThrfsTer14) c.2142_2145del (p.Ser715ThrfsTer14) c.2124_2127del (p.Ser709ThrfsTer14) c.1833_1836del (p.Ser612ThrfsTer14) c.1761_1764del (p.Ser588ThrfsTer14) n.2627_2630del n.2566_2569del n.2520_2523del | gnomAD v4 |
2 | g.25240333del | CA2658171908 | DNMT3A | c.610del c.1437del (n.1437del) c.1622del (p.Ser541MetfsTer15) c.2291del (p.Ser764MetfsTer15) c.1724del (p.Ser575MetfsTer15) c.2291del (p.Ser764MetfsTer?) n.510del n.663del n.610del n.291del n.310+307del c.1847del (p.Ser616MetfsTer15) c.2144del (p.Ser715MetfsTer15) c.2126del (p.Ser709MetfsTer15) c.1835del (p.Ser612MetfsTer15) c.1763del (p.Ser588MetfsTer15) n.2629del n.2568del n.2522del | gnomAD v4 |
2 | g.25240333C>A | CA346069743 | DNMT3A | c.610G>T c.1437G>T (n.1437G>T) c.1622G>T (p.Ser541Ile) c.2291G>T (p.Ser764Ile) c.1724G>T (p.Ser575Ile) n.510G>T n.663G>T n.610G>T n.291G>T n.310+307G>T c.1847G>T (p.Ser616Ile) c.2144G>T (p.Ser715Ile) c.2126G>T (p.Ser709Ile) c.1835G>T (p.Ser612Ile) c.1763G>T (p.Ser588Ile) n.2629G>T n.2568G>T n.2522G>T | |
2 | g.25240333C>G | CA346069745 | DNMT3A | c.610G>C c.1437G>C (n.1437G>C) c.1622G>C (p.Ser541Thr) c.2291G>C (p.Ser764Thr) c.1724G>C (p.Ser575Thr) n.510G>C n.663G>C n.610G>C n.291G>C n.310+307G>C c.1847G>C (p.Ser616Thr) c.2144G>C (p.Ser715Thr) c.2126G>C (p.Ser709Thr) c.1835G>C (p.Ser612Thr) c.1763G>C (p.Ser588Thr) n.2629G>C n.2568G>C n.2522G>C | |
2 | g.25240333C>T | CA346069746 | DNMT3A | c.610G>A c.1437G>A (n.1437G>A) c.1622G>A (p.Ser541Asn) c.2291G>A (p.Ser764Asn) c.1724G>A (p.Ser575Asn) n.510G>A n.663G>A n.610G>A n.291G>A n.310+307G>A c.1847G>A (p.Ser616Asn) c.2144G>A (p.Ser715Asn) c.2126G>A (p.Ser709Asn) c.1835G>A (p.Ser612Asn) c.1763G>A (p.Ser588Asn) n.2629G>A n.2568G>A n.2522G>A | dbSNP |
2 | g.25240334T>A | CA346069750 | DNMT3A | c.609A>T c.1436A>T (n.1436A>T) c.1621A>T (p.Ser541Cys) c.2290A>T (p.Ser764Cys) c.1723A>T (p.Ser575Cys) n.509A>T n.662A>T n.609A>T n.290A>T n.310+306A>T c.1846A>T (p.Ser616Cys) c.2143A>T (p.Ser715Cys) c.2125A>T (p.Ser709Cys) c.1834A>T (p.Ser612Cys) c.1762A>T (p.Ser588Cys) n.2628A>T n.2567A>T n.2521A>T | |
2 | g.25240334T>C | CA346069752 | DNMT3A | c.609A>G c.1436A>G (n.1436A>G) c.1621A>G (p.Ser541Gly) c.2290A>G (p.Ser764Gly) c.1723A>G (p.Ser575Gly) n.509A>G n.662A>G n.609A>G n.290A>G n.310+306A>G c.1846A>G (p.Ser616Gly) c.2143A>G (p.Ser715Gly) c.2125A>G (p.Ser709Gly) c.1834A>G (p.Ser612Gly) c.1762A>G (p.Ser588Gly) n.2628A>G n.2567A>G n.2521A>G | |
2 | g.25240334T>G | CA346069749 | DNMT3A | c.609A>C c.1436A>C (n.1436A>C) c.1621A>C (p.Ser541Arg) c.2290A>C (p.Ser764Arg) c.1723A>C (p.Ser575Arg) n.509A>C n.662A>C n.609A>C n.290A>C n.310+306A>C c.1846A>C (p.Ser616Arg) c.2143A>C (p.Ser715Arg) c.2125A>C (p.Ser709Arg) c.1834A>C (p.Ser612Arg) c.1762A>C (p.Ser588Arg) n.2628A>C n.2567A>C n.2521A>C | |
2 | g.25240334dup | CA2576693899 | DNMT3A | c.609dup c.1436dup (n.1436dup) c.1621dup (p.Ser541LysfsTer2) c.2290dup (p.Ser764LysfsTer2) c.1723dup (p.Ser575LysfsTer2) n.509dup n.662dup n.609dup n.290dup n.310+306dup c.1846dup (p.Ser616LysfsTer2) c.2143dup (p.Ser715LysfsTer2) c.2125dup (p.Ser709LysfsTer2) c.1834dup (p.Ser612LysfsTer2) c.1762dup (p.Ser588LysfsTer2) n.2628dup n.2567dup n.2521dup | gnomAD v4 |
2 | g.25240335A>C | CA425181415 | DNMT3A | c.608T>G c.1435T>G (n.1435T>G) c.1620T>G (p.Val540=) c.2289T>G (p.Val763=) c.1722T>G (p.Val574=) n.508T>G n.661T>G n.608T>G n.289T>G n.310+305T>G c.1845T>G (p.Val615=) c.2142T>G (p.Val714=) c.2124T>G (p.Val708=) c.1833T>G (p.Val611=) c.1761T>G (p.Val587=) n.2627T>G n.2566T>G n.2520T>G | dbSNP |
2 | g.25240335A>G | CA425181416 | DNMT3A | c.608T>C c.1435T>C (n.1435T>C) c.1620T>C (p.Val540=) c.2289T>C (p.Val763=) c.1722T>C (p.Val574=) n.508T>C n.661T>C n.608T>C n.289T>C n.310+305T>C c.1845T>C (p.Val615=) c.2142T>C (p.Val714=) c.2124T>C (p.Val708=) c.1833T>C (p.Val611=) c.1761T>C (p.Val587=) n.2627T>C n.2566T>C n.2520T>C | dbSNP gnomAD v4 |
2 | g.25240335A>T | CA425181417 | DNMT3A | c.608T>A c.1435T>A (n.1435T>A) c.1620T>A (p.Val540=) c.2289T>A (p.Val763=) c.1722T>A (p.Val574=) n.508T>A n.661T>A n.608T>A n.289T>A n.310+305T>A c.1845T>A (p.Val615=) c.2142T>A (p.Val714=) c.2124T>A (p.Val708=) c.1833T>A (p.Val611=) c.1761T>A (p.Val587=) n.2627T>A n.2566T>A n.2520T>A | gnomAD v4 |
2 | g.25240336dup | CA2658171924 | DNMT3A | c.608dup c.1435dup (n.1435dup) c.1620dup (p.Ser541Ter) c.2289dup (p.Ser764Ter) c.1722dup (p.Ser575Ter) n.508dup n.661dup n.608dup n.289dup n.310+305dup c.1845dup (p.Ser616Ter) c.2142dup (p.Ser715Ter) c.2124dup (p.Ser709Ter) c.1833dup (p.Ser612Ter) c.1761dup (p.Ser588Ter) n.2627dup n.2566dup n.2520dup | gnomAD v4 |
2 | g.25240335_25240336dup | CA2658171927 | DNMT3A | c.607_608dup c.1434_1435dup (n.1434_1435dup) c.1619_1620dup (p.Ser541LeufsTer16) c.2288_2289dup (p.Ser764LeufsTer16) c.1721_1722dup (p.Ser575LeufsTer16) c.2288_2289dup (p.Ser764LeufsTer?) n.507_508dup n.660_661dup n.607_608dup n.288_289dup n.310+304_310+305dup c.1844_1845dup (p.Ser616LeufsTer16) c.2141_2142dup (p.Ser715LeufsTer16) c.2123_2124dup (p.Ser709LeufsTer16) c.1832_1833dup (p.Ser612LeufsTer16) c.1760_1761dup (p.Ser588LeufsTer16) n.2626_2627dup n.2565_2566dup n.2519_2520dup | gnomAD v4 |
2 | g.25240336del | CA2658171931 | DNMT3A | c.608del c.1435del (n.1435del) c.1620del (p.Ser541ValfsTer15) c.2289del (p.Ser764ValfsTer15) c.1722del (p.Ser575ValfsTer15) c.2289del (p.Ser764ValfsTer?) n.508del n.661del n.608del n.289del n.310+305del c.1845del (p.Ser616ValfsTer15) c.2142del (p.Ser715ValfsTer15) c.2124del (p.Ser709ValfsTer15) c.1833del (p.Ser612ValfsTer15) c.1761del (p.Ser588ValfsTer15) n.2627del n.2566del n.2520del | gnomAD v4 |
2 | g.25240336A= | CA1239265160 | DNMT3A | c.607T= c.1434T= (n.1434T=) c.1619T= (p.Val540=) c.2288T= (p.Val763=) c.1721T= (p.Val574=) n.507T= n.660T= n.607T= n.288T= n.310+304T= c.1844T= (p.Val615=) c.2141T= (p.Val714=) c.2123T= (p.Val708=) c.1832T= (p.Val611=) c.1760T= (p.Val587=) n.2626T= n.2565T= n.2519T= | |
2 | g.25240336A>C | CA346069755 | DNMT3A | c.607T>G c.1434T>G (n.1434T>G) c.1619T>G (p.Val540Gly) c.2288T>G (p.Val763Gly) c.1721T>G (p.Val574Gly) n.507T>G n.660T>G n.607T>G n.288T>G n.310+304T>G c.1844T>G (p.Val615Gly) c.2141T>G (p.Val714Gly) c.2123T>G (p.Val708Gly) c.1832T>G (p.Val611Gly) c.1760T>G (p.Val587Gly) n.2626T>G n.2565T>G n.2519T>G | |
2 | g.25240336A>G | CA346069757 | DNMT3A | c.607T>C c.1434T>C (n.1434T>C) c.1619T>C (p.Val540Ala) c.2288T>C (p.Val763Ala) c.1721T>C (p.Val574Ala) n.507T>C n.660T>C n.607T>C n.288T>C n.310+304T>C c.1844T>C (p.Val615Ala) c.2141T>C (p.Val714Ala) c.2123T>C (p.Val708Ala) c.1832T>C (p.Val611Ala) c.1760T>C (p.Val587Ala) n.2626T>C n.2565T>C n.2519T>C | |
2 | g.25240336A>T | CA346069759 | DNMT3A | c.607T>A c.1434T>A (n.1434T>A) c.1619T>A (p.Val540Asp) c.2288T>A (p.Val763Asp) c.1721T>A (p.Val574Asp) n.507T>A n.660T>A n.607T>A n.288T>A n.310+304T>A c.1844T>A (p.Val615Asp) c.2141T>A (p.Val714Asp) c.2123T>A (p.Val708Asp) c.1832T>A (p.Val611Asp) c.1760T>A (p.Val587Asp) n.2626T>A n.2565T>A n.2519T>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25240336_25240337del | CA1028506284 | DNMT3A | c.606_607del c.1433_1434del (n.1433_1434del) c.1618_1619del (p.Val540Ter) c.2287_2288del (p.Val763Ter) c.1720_1721del (p.Val574Ter) n.506_507del n.659_660del n.606_607del n.287_288del n.310+303_310+304del c.1843_1844del (p.Val615Ter) c.2140_2141del (p.Val714Ter) c.2122_2123del (p.Val708Ter) c.1831_1832del (p.Val611Ter) c.1759_1760del (p.Val587Ter) n.2625_2626del n.2564_2565del n.2518_2519del | gnomAD v3 gnomAD v4 |
2 | g.25240337del | CA2658171945 | DNMT3A | c.606del c.1433del (n.1433del) c.1618del (p.Val540LeufsTer16) c.2287del (p.Val763LeufsTer16) c.1720del (p.Val574LeufsTer16) c.2287del (p.Val763LeufsTer?) n.506del n.659del n.606del n.287del n.310+303del c.1843del (p.Val615LeufsTer16) c.2140del (p.Val714LeufsTer16) c.2122del (p.Val708LeufsTer16) c.1831del (p.Val611LeufsTer16) c.1759del (p.Val587LeufsTer16) n.2625del n.2564del n.2518del | gnomAD v4 |
2 | g.25240337C>A | CA346069761 | DNMT3A | c.606G>T c.1433G>T (n.1433G>T) c.1618G>T (p.Val540Phe) c.2287G>T (p.Val763Phe) c.1720G>T (p.Val574Phe) n.506G>T n.659G>T n.606G>T n.287G>T n.310+303G>T c.1843G>T (p.Val615Phe) c.2140G>T (p.Val714Phe) c.2122G>T (p.Val708Phe) c.1831G>T (p.Val611Phe) c.1759G>T (p.Val587Phe) n.2625G>T n.2564G>T n.2518G>T | |
2 | g.25240337C= | CA1239265161 | DNMT3A | c.606G= c.1433G= (n.1433G=) c.1618G= (p.Val540=) c.2287G= (p.Val763=) c.1720G= (p.Val574=) n.506G= n.659G= n.606G= n.287G= n.310+303G= c.1843G= (p.Val615=) c.2140G= (p.Val714=) c.2122G= (p.Val708=) c.1831G= (p.Val611=) c.1759G= (p.Val587=) n.2625G= n.2564G= n.2518G= | |
2 | g.25240337C>G | CA346069770 | DNMT3A | c.606G>C c.1433G>C (n.1433G>C) c.1618G>C (p.Val540Leu) c.2287G>C (p.Val763Leu) c.1720G>C (p.Val574Leu) n.506G>C n.659G>C n.606G>C n.287G>C n.310+303G>C c.1843G>C (p.Val615Leu) c.2140G>C (p.Val714Leu) c.2122G>C (p.Val708Leu) c.1831G>C (p.Val611Leu) c.1759G>C (p.Val587Leu) n.2625G>C n.2564G>C n.2518G>C | |
2 | g.25240337C>T | CA346069773 | DNMT3A | c.606G>A c.1433G>A (n.1433G>A) c.1618G>A (p.Val540Ile) c.2287G>A (p.Val763Ile) c.1720G>A (p.Val574Ile) n.506G>A n.659G>A n.606G>A n.287G>A n.310+303G>A c.1843G>A (p.Val615Ile) c.2140G>A (p.Val714Ile) c.2122G>A (p.Val708Ile) c.1831G>A (p.Val611Ile) c.1759G>A (p.Val587Ile) n.2625G>A n.2564G>A n.2518G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.25240338_25240341del | CA2841451871 | DNMT3A | c.603_606del c.1430_1433del (n.1430_1433del) c.1615_1618del (p.Gly539LeufsTer16) c.2284_2287del (p.Gly762LeufsTer16) c.1717_1720del (p.Gly573LeufsTer16) c.2284_2287del (p.Gly762LeufsTer?) n.503_506del n.656_659del n.603_606del n.284_287del n.310+300_310+303del c.1840_1843del (p.Gly614LeufsTer16) c.2137_2140del (p.Gly713LeufsTer16) c.2119_2122del (p.Gly707LeufsTer16) c.1828_1831del (p.Gly610LeufsTer16) c.1756_1759del (p.Gly586LeufsTer16) n.2622_2625del n.2561_2564del n.2515_2518del | |
2 | g.25240337_25240338insA | CA2658171953 | DNMT3A | c.605_606insT c.1432_1433insT (n.1432_1433insT) c.1617_1618insT (p.Val540CysfsTer2) c.2286_2287insT (p.Val763CysfsTer2) c.1719_1720insT (p.Val574CysfsTer2) n.505_506insT n.658_659insT n.605_606insT n.286_287insT n.310+302_310+303insT c.1842_1843insT (p.Val615CysfsTer2) c.2139_2140insT (p.Val714CysfsTer2) c.2121_2122insT (p.Val708CysfsTer2) c.1830_1831insT (p.Val611CysfsTer2) c.1758_1759insT (p.Val587CysfsTer2) n.2624_2625insT n.2563_2564insT n.2517_2518insT | gnomAD v4 |
2 | g.25240337_25240338insTTTA | CA1555665 | DNMT3A | c.605_606insTAAA c.1432_1433insTAAA (n.1432_1433insTAAA) c.1617_1618insTAAA (p.Val540Ter) c.2286_2287insTAAA (p.Val763Ter) c.1719_1720insTAAA (p.Val574Ter) n.505_506insTAAA n.658_659insTAAA n.605_606insTAAA n.286_287insTAAA n.310+302_310+303insTAAA c.1842_1843insTAAA (p.Val615Ter) c.2139_2140insTAAA (p.Val714Ter) c.2121_2122insTAAA (p.Val708Ter) c.1830_1831insTAAA (p.Val611Ter) c.1758_1759insTAAA (p.Val587Ter) n.2624_2625insTAAA n.2563_2564insTAAA n.2517_2518insTAAA | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25240338G>A | CA425181418 | DNMT3A | c.605C>T c.1432C>T (n.1432C>T) c.1617C>T (p.Gly539=) c.2286C>T (p.Gly762=) c.1719C>T (p.Gly573=) n.505C>T n.658C>T n.605C>T n.286C>T n.310+302C>T c.1842C>T (p.Gly614=) c.2139C>T (p.Gly713=) c.2121C>T (p.Gly707=) c.1830C>T (p.Gly610=) c.1758C>T (p.Gly586=) n.2624C>T n.2563C>T n.2517C>T | dbSNP gnomAD v4 COSMIC COSMIC |
2 | g.25240338G>C | CA425181419 | DNMT3A | c.605C>G c.1432C>G (n.1432C>G) c.1617C>G (p.Gly539=) c.2286C>G (p.Gly762=) c.1719C>G (p.Gly573=) n.505C>G n.658C>G n.605C>G n.286C>G n.310+302C>G c.1842C>G (p.Gly614=) c.2139C>G (p.Gly713=) c.2121C>G (p.Gly707=) c.1830C>G (p.Gly610=) c.1758C>G (p.Gly586=) n.2624C>G n.2563C>G n.2517C>G | |
2 | g.25240338G= | CA1239265163 | DNMT3A | c.605C= c.1432C= (n.1432C=) c.1617C= (p.Gly539=) c.2286C= (p.Gly762=) c.1719C= (p.Gly573=) n.505C= n.658C= n.605C= n.286C= n.310+302C= c.1842C= (p.Gly614=) c.2139C= (p.Gly713=) c.2121C= (p.Gly707=) c.1830C= (p.Gly610=) c.1758C= (p.Gly586=) n.2624C= n.2563C= n.2517C= | |
2 | g.25240338G>T | CA425181420 | DNMT3A | c.605C>A c.1432C>A (n.1432C>A) c.1617C>A (p.Gly539=) c.2286C>A (p.Gly762=) c.1719C>A (p.Gly573=) n.505C>A n.658C>A n.605C>A n.286C>A n.310+302C>A c.1842C>A (p.Gly614=) c.2139C>A (p.Gly713=) c.2121C>A (p.Gly707=) c.1830C>A (p.Gly610=) c.1758C>A (p.Gly586=) n.2624C>A n.2563C>A n.2517C>A | |
2 | g.25240338_25240339insTTAG | CA2576693901 | DNMT3A | c.605_606insTAAC c.1432_1433insTAAC (n.1432_1433insTAAC) c.1617_1618insTAAC (p.Val540Ter) c.2286_2287insTAAC (p.Val763Ter) c.1719_1720insTAAC (p.Val574Ter) n.505_506insTAAC n.658_659insTAAC n.605_606insTAAC n.286_287insTAAC n.310+302_310+303insTAAC c.1842_1843insTAAC (p.Val615Ter) c.2139_2140insTAAC (p.Val714Ter) c.2121_2122insTAAC (p.Val708Ter) c.1830_1831insTAAC (p.Val611Ter) c.1758_1759insTAAC (p.Val587Ter) n.2624_2625insTAAC n.2563_2564insTAAC n.2517_2518insTAAC | gnomAD v4 |
2 | g.25240339C>A | CA346069778 | DNMT3A | c.604G>T c.1431G>T (n.1431G>T) c.1616G>T (p.Gly539Val) c.2285G>T (p.Gly762Val) c.1718G>T (p.Gly573Val) n.504G>T n.657G>T n.604G>T n.285G>T n.310+301G>T c.1841G>T (p.Gly614Val) c.2138G>T (p.Gly713Val) c.2120G>T (p.Gly707Val) c.1829G>T (p.Gly610Val) c.1757G>T (p.Gly586Val) n.2623G>T n.2562G>T n.2516G>T | gnomAD v4 |
2 | g.25240339C>G | CA346069779 | DNMT3A | c.604G>C c.1431G>C (n.1431G>C) c.1616G>C (p.Gly539Ala) c.2285G>C (p.Gly762Ala) c.1718G>C (p.Gly573Ala) n.504G>C n.657G>C n.604G>C n.285G>C n.310+301G>C c.1841G>C (p.Gly614Ala) c.2138G>C (p.Gly713Ala) c.2120G>C (p.Gly707Ala) c.1829G>C (p.Gly610Ala) c.1757G>C (p.Gly586Ala) n.2623G>C n.2562G>C n.2516G>C | |
2 | g.25240339C>T | CA346069782 | DNMT3A | c.604G>A c.1431G>A (n.1431G>A) c.1616G>A (p.Gly539Asp) c.2285G>A (p.Gly762Asp) c.1718G>A (p.Gly573Asp) n.504G>A n.657G>A n.604G>A n.285G>A n.310+301G>A c.1841G>A (p.Gly614Asp) c.2138G>A (p.Gly713Asp) c.2120G>A (p.Gly707Asp) c.1829G>A (p.Gly610Asp) c.1757G>A (p.Gly586Asp) n.2623G>A n.2562G>A n.2516G>A | COSMIC COSMIC |
2 | g.25240341dup | CA531369114 | DNMT3A | c.604dup c.1431dup (n.1431dup) c.1616dup (p.Val540ArgfsTer2) c.2285dup (p.Val763ArgfsTer2) c.1718dup (p.Val574ArgfsTer2) n.504dup n.657dup n.604dup n.285dup n.310+301dup c.1841dup (p.Val615ArgfsTer2) c.2138dup (p.Val714ArgfsTer2) c.2120dup (p.Val708ArgfsTer2) c.1829dup (p.Val611ArgfsTer2) c.1757dup (p.Val587ArgfsTer2) n.2623dup n.2562dup n.2516dup | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25240341del | CA2658171972 | DNMT3A | c.604del c.1431del (n.1431del) c.1616del (p.Gly539AlafsTer17) c.2285del (p.Gly762AlafsTer17) c.1718del (p.Gly573AlafsTer17) c.2285del (p.Gly762AlafsTer?) n.504del n.657del n.604del n.285del n.310+301del c.1841del (p.Gly614AlafsTer17) c.2138del (p.Gly713AlafsTer17) c.2120del (p.Gly707AlafsTer17) c.1829del (p.Gly610AlafsTer17) c.1757del (p.Gly586AlafsTer17) n.2623del n.2562del n.2516del | gnomAD v4 |
2 | g.25240340C>A | CA346069784 | DNMT3A | c.603G>T c.1430G>T (n.1430G>T) c.1615G>T (p.Gly539Cys) c.2284G>T (p.Gly762Cys) c.1717G>T (p.Gly573Cys) n.503G>T n.656G>T n.603G>T n.284G>T n.310+300G>T c.1840G>T (p.Gly614Cys) c.2137G>T (p.Gly713Cys) c.2119G>T (p.Gly707Cys) c.1828G>T (p.Gly610Cys) c.1756G>T (p.Gly586Cys) n.2622G>T n.2561G>T n.2515G>T | COSMIC COSMIC |
2 | g.25240340C= | CA1239265165 | DNMT3A | c.603G= c.1430G= (n.1430G=) c.1615G= (p.Gly539=) c.2284G= (p.Gly762=) c.1717G= (p.Gly573=) n.503G= n.656G= n.603G= n.284G= n.310+300G= c.1840G= (p.Gly614=) c.2137G= (p.Gly713=) c.2119G= (p.Gly707=) c.1828G= (p.Gly610=) c.1756G= (p.Gly586=) n.2622G= n.2561G= n.2515G= | |
2 | g.25240340C>G | CA346069785 | DNMT3A | c.603G>C c.1430G>C (n.1430G>C) c.1615G>C (p.Gly539Arg) c.2284G>C (p.Gly762Arg) c.1717G>C (p.Gly573Arg) n.503G>C n.656G>C n.603G>C n.284G>C n.310+300G>C c.1840G>C (p.Gly614Arg) c.2137G>C (p.Gly713Arg) c.2119G>C (p.Gly707Arg) c.1828G>C (p.Gly610Arg) c.1756G>C (p.Gly586Arg) n.2622G>C n.2561G>C n.2515G>C | |
2 | g.25240340C>T | CA346069788 | DNMT3A | c.603G>A c.1430G>A (n.1430G>A) c.1615G>A (p.Gly539Ser) c.2284G>A (p.Gly762Ser) c.1717G>A (p.Gly573Ser) n.503G>A n.656G>A n.603G>A n.284G>A n.310+300G>A c.1840G>A (p.Gly614Ser) c.2137G>A (p.Gly713Ser) c.2119G>A (p.Gly707Ser) c.1828G>A (p.Gly610Ser) c.1756G>A (p.Gly586Ser) n.2622G>A n.2561G>A n.2515G>A | dbSNP gnomAD v2 |
2 | g.25240343_25240348dup | CA645515166 | DNMT3A | c.598_603dup c.1425_1430dup (n.1425_1430dup) c.1610_1615dup (p.Met538_Gly539insAlaMet) c.2279_2284dup (p.Met761_Gly762insAlaMet) c.1712_1717dup (p.Met572_Gly573insAlaMet) n.498_503dup n.651_656dup n.598_603dup n.279_284dup n.310+295_310+300dup c.1835_1840dup (p.Met613_Gly614insAlaMet) c.2132_2137dup (p.Met712_Gly713insAlaMet) c.2114_2119dup (p.Met706_Gly707insAlaMet) c.1823_1828dup (p.Met609_Gly610insAlaMet) c.1751_1756dup (p.Met585_Gly586insAlaMet) n.2617_2622dup n.2556_2561dup n.2510_2515dup | COSMIC |
2 | g.25240341C>A | CA346069789 | DNMT3A | c.602G>T c.1429G>T (n.1429G>T) c.1614G>T (p.Met538Ile) c.2283G>T (p.Met761Ile) c.1716G>T (p.Met572Ile) n.502G>T n.655G>T n.602G>T n.283G>T n.310+299G>T c.1839G>T (p.Met613Ile) c.2136G>T (p.Met712Ile) c.2118G>T (p.Met706Ile) c.1827G>T (p.Met609Ile) c.1755G>T (p.Met585Ile) n.2621G>T n.2560G>T n.2514G>T | |
2 | g.25240341C>G | CA346069792 | DNMT3A | c.602G>C c.1429G>C (n.1429G>C) c.1614G>C (p.Met538Ile) c.2283G>C (p.Met761Ile) c.1716G>C (p.Met572Ile) n.502G>C n.655G>C n.602G>C n.283G>C n.310+299G>C c.1839G>C (p.Met613Ile) c.2136G>C (p.Met712Ile) c.2118G>C (p.Met706Ile) c.1827G>C (p.Met609Ile) c.1755G>C (p.Met585Ile) n.2621G>C n.2560G>C n.2514G>C | |
2 | g.25240341C>T | CA346069790 | DNMT3A | c.602G>A c.1429G>A (n.1429G>A) c.1614G>A (p.Met538Ile) c.2283G>A (p.Met761Ile) c.1716G>A (p.Met572Ile) n.502G>A n.655G>A n.602G>A n.283G>A n.310+299G>A c.1839G>A (p.Met613Ile) c.2136G>A (p.Met712Ile) c.2118G>A (p.Met706Ile) c.1827G>A (p.Met609Ile) c.1755G>A (p.Met585Ile) n.2621G>A n.2560G>A n.2514G>A | COSMIC COSMIC |
2 | g.25240341_25240343delinsCAT | CA1239265168 | DNMT3A | c.600_602delinsATG c.1427_1429delinsATG (n.1427_1429delinsATG) c.1612_1614delinsATG (p.Met538=) c.2281_2283delinsATG (p.Met761=) c.1714_1716delinsATG (p.Met572=) n.500_502delinsATG n.653_655delinsATG n.600_602delinsATG n.281_283delinsATG n.310+297_310+299delinsATG c.1837_1839delinsATG (p.Met613=) c.2134_2136delinsATG (p.Met712=) c.2116_2118delinsATG (p.Met706=) c.1825_1827delinsATG (p.Met609=) c.1753_1755delinsATG (p.Met585=) n.2619_2621delinsATG n.2558_2560delinsATG n.2512_2514delinsATG | |
2 | g.25240341_25240368delinsCATGGCCACCACATTCTCAAAGAGCCAG | CA1239265169 | DNMT3A | c.575_602delinsCTGGCTCTTTGAGAATGTGGTGGCCATG c.1402_1429delinsCTGGCTCTTTGAGAATGTGGTGGCCATG (n.1402_1429delinsCTGGCTCTTTGAGAATGTGGTGGCCATG) c.1587_1614delinsCTGGCTCTTTGAGAATGTGGTGGCCATG (p.Phe529=) c.2256_2283delinsCTGGCTCTTTGAGAATGTGGTGGCCATG (p.Phe752=) c.1689_1716delinsCTGGCTCTTTGAGAATGTGGTGGCCATG (p.Phe563=) n.475_502delinsCTGGCTCTTTGAGAATGTGGTGGCCATG n.628_655delinsCTGGCTCTTTGAGAATGTGGTGGCCATG n.575_602delinsCTGGCTCTTTGAGAATGTGGTGGCCATG n.256_283delinsCTGGCTCTTTGAGAATGTGGTGGCCATG n.310+272_310+299delinsCTGGCTCTTTGAGAATGTGGTGGCCATG c.1812_1839delinsCTGGCTCTTTGAGAATGTGGTGGCCATG (p.Phe604=) c.2109_2136delinsCTGGCTCTTTGAGAATGTGGTGGCCATG (p.Phe703=) c.2091_2118delinsCTGGCTCTTTGAGAATGTGGTGGCCATG (p.Phe697=) c.1800_1827delinsCTGGCTCTTTGAGAATGTGGTGGCCATG (p.Phe600=) c.1728_1755delinsCTGGCTCTTTGAGAATGTGGTGGCCATG (p.Phe576=) n.2594_2621delinsCTGGCTCTTTGAGAATGTGGTGGCCATG n.2533_2560delinsCTGGCTCTTTGAGAATGTGGTGGCCATG n.2487_2514delinsCTGGCTCTTTGAGAATGTGGTGGCCATG | |
2 | g.25240342A= | CA1239265178 | DNMT3A | c.601T= c.1428T= (n.1428T=) c.1613T= (p.Met538=) c.2282T= (p.Met761=) c.1715T= (p.Met572=) n.501T= n.654T= n.601T= n.282T= n.310+298T= c.1838T= (p.Met613=) c.2135T= (p.Met712=) c.2117T= (p.Met706=) c.1826T= (p.Met609=) c.1754T= (p.Met585=) n.2620T= n.2559T= n.2513T= | |
2 | g.25240342A>C | CA346069794 | DNMT3A | c.601T>G c.1428T>G (n.1428T>G) c.1613T>G (p.Met538Arg) c.2282T>G (p.Met761Arg) c.1715T>G (p.Met572Arg) n.501T>G n.654T>G n.601T>G n.282T>G n.310+298T>G c.1838T>G (p.Met613Arg) c.2135T>G (p.Met712Arg) c.2117T>G (p.Met706Arg) c.1826T>G (p.Met609Arg) c.1754T>G (p.Met585Arg) n.2620T>G n.2559T>G n.2513T>G | |
2 | g.25240342A>G | CA43698623 | DNMT3A | c.601T>C c.1428T>C (n.1428T>C) c.1613T>C (p.Met538Thr) c.2282T>C (p.Met761Thr) c.1715T>C (p.Met572Thr) n.501T>C n.654T>C n.601T>C n.282T>C n.310+298T>C c.1838T>C (p.Met613Thr) c.2135T>C (p.Met712Thr) c.2117T>C (p.Met706Thr) c.1826T>C (p.Met609Thr) c.1754T>C (p.Met585Thr) n.2620T>C n.2559T>C n.2513T>C | dbSNP |
2 | g.25240342A>T | CA346069798 | DNMT3A | c.601T>A c.1428T>A (n.1428T>A) c.1613T>A (p.Met538Lys) c.2282T>A (p.Met761Lys) c.1715T>A (p.Met572Lys) n.501T>A n.654T>A n.601T>A n.282T>A n.310+298T>A c.1838T>A (p.Met613Lys) c.2135T>A (p.Met712Lys) c.2117T>A (p.Met706Lys) c.1826T>A (p.Met609Lys) c.1754T>A (p.Met585Lys) n.2620T>A n.2559T>A n.2513T>A | |
2 | g.25240342_25240343del | CA767173265 | DNMT3A | c.600_601del c.1427_1428del (n.1427_1428del) c.1612_1613del (p.Met538GlyfsTer3) c.2281_2282del (p.Met761GlyfsTer3) c.1714_1715del (p.Met572GlyfsTer3) n.500_501del n.653_654del n.600_601del n.281_282del n.310+297_310+298del c.1837_1838del (p.Met613GlyfsTer3) c.2134_2135del (p.Met712GlyfsTer3) c.2116_2117del (p.Met706GlyfsTer3) c.1825_1826del (p.Met609GlyfsTer3) c.1753_1754del (p.Met585GlyfsTer3) n.2619_2620del n.2558_2559del n.2512_2513del | dbSNP |
2 | g.25240343_25240369del | CA1239265177 | DNMT3A | c.575_601del c.1402_1428del (n.1402_1428del) c.1587_1613del (p.Phe529_Met538delinsLeu) c.2256_2282del (p.Phe752_Met761delinsLeu) c.1689_1715del (p.Phe563_Met572delinsLeu) n.475_501del n.628_654del n.575_601del n.256_282del n.310+272_310+298del c.1812_1838del (p.Phe604_Met613delinsLeu) c.2109_2135del (p.Phe703_Met712delinsLeu) c.2091_2117del (p.Phe697_Met706delinsLeu) c.1800_1826del (p.Phe600_Met609delinsLeu) c.1728_1754del (p.Phe576_Met585delinsLeu) n.2594_2620del n.2533_2559del n.2487_2513del | dbSNP |
2 | g.25240343T>A | CA346069801 | DNMT3A | c.600A>T c.1427A>T (n.1427A>T) c.1612A>T (p.Met538Leu) c.2281A>T (p.Met761Leu) c.1714A>T (p.Met572Leu) n.500A>T n.653A>T n.600A>T n.281A>T n.310+297A>T c.1837A>T (p.Met613Leu) c.2134A>T (p.Met712Leu) c.2116A>T (p.Met706Leu) c.1825A>T (p.Met609Leu) c.1753A>T (p.Met585Leu) n.2619A>T n.2558A>T n.2512A>T | |
2 | g.25240343T>C | CA1555666 | DNMT3A | c.600A>G c.1427A>G (n.1427A>G) c.1612A>G (p.Met538Val) c.2281A>G (p.Met761Val) c.1714A>G (p.Met572Val) n.500A>G n.653A>G n.600A>G n.281A>G n.310+297A>G c.1837A>G (p.Met613Val) c.2134A>G (p.Met712Val) c.2116A>G (p.Met706Val) c.1825A>G (p.Met609Val) c.1753A>G (p.Met585Val) n.2619A>G n.2558A>G n.2512A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25240343T>G | CA346069803 | DNMT3A | c.600A>C c.1427A>C (n.1427A>C) c.1612A>C (p.Met538Leu) c.2281A>C (p.Met761Leu) c.1714A>C (p.Met572Leu) n.500A>C n.653A>C n.600A>C n.281A>C n.310+297A>C c.1837A>C (p.Met613Leu) c.2134A>C (p.Met712Leu) c.2116A>C (p.Met706Leu) c.1825A>C (p.Met609Leu) c.1753A>C (p.Met585Leu) n.2619A>C n.2558A>C n.2512A>C | |
2 | g.25240343T= | CA1239265181 | DNMT3A | c.600A= c.1427A= (n.1427A=) c.1612A= (p.Met538=) c.2281A= (p.Met761=) c.1714A= (p.Met572=) n.500A= n.653A= n.600A= n.281A= n.310+297A= c.1837A= (p.Met613=) c.2134A= (p.Met712=) c.2116A= (p.Met706=) c.1825A= (p.Met609=) c.1753A= (p.Met585=) n.2619A= n.2558A= n.2512A= | |
2 | g.25240344_25240355del | CA2576693902 | DNMT3A | c.589_600del c.1416_1427del (n.1416_1427del) c.1601_1612del (p.Asn534_Ala537del) c.2270_2281del (p.Asn757_Ala760del) c.1703_1714del (p.Asn568_Ala571del) n.489_500del n.642_653del n.589_600del n.270_281del n.310+286_310+297del c.1826_1837del (p.Asn609_Ala612del) c.2123_2134del (p.Asn708_Ala711del) c.2105_2116del (p.Asn702_Ala705del) c.1814_1825del (p.Asn605_Ala608del) c.1742_1753del (p.Asn581_Ala584del) n.2608_2619del n.2547_2558del n.2501_2512del | |
2 | g.25240344G>A | CA425181423 | DNMT3A | c.599C>T c.1426C>T (n.1426C>T) c.1611C>T (p.Ala537=) c.2280C>T (p.Ala760=) c.1713C>T (p.Ala571=) n.499C>T n.652C>T n.599C>T n.280C>T n.310+296C>T c.1836C>T (p.Ala612=) c.2133C>T (p.Ala711=) c.2115C>T (p.Ala705=) c.1824C>T (p.Ala608=) c.1752C>T (p.Ala584=) n.2618C>T n.2557C>T n.2511C>T | COSMIC |
2 | g.25240344G>C | CA425181421 | DNMT3A | c.599C>G c.1426C>G (n.1426C>G) c.1611C>G (p.Ala537=) c.2280C>G (p.Ala760=) c.1713C>G (p.Ala571=) n.499C>G n.652C>G n.599C>G n.280C>G n.310+296C>G c.1836C>G (p.Ala612=) c.2133C>G (p.Ala711=) c.2115C>G (p.Ala705=) c.1824C>G (p.Ala608=) c.1752C>G (p.Ala584=) n.2618C>G n.2557C>G n.2511C>G | |
2 | g.25240344G>T | CA425181422 | DNMT3A | c.599C>A c.1426C>A (n.1426C>A) c.1611C>A (p.Ala537=) c.2280C>A (p.Ala760=) c.1713C>A (p.Ala571=) n.499C>A n.652C>A n.599C>A n.280C>A n.310+296C>A c.1836C>A (p.Ala612=) c.2133C>A (p.Ala711=) c.2115C>A (p.Ala705=) c.1824C>A (p.Ala608=) c.1752C>A (p.Ala584=) n.2618C>A n.2557C>A n.2511C>A | |
2 | g.25240345dup | CA2658171984 | DNMT3A | c.599dup c.1426dup (n.1426dup) c.1611dup (p.Met538HisfsTer4) c.2280dup (p.Met761HisfsTer4) c.1713dup (p.Met572HisfsTer4) n.499dup n.652dup n.599dup n.280dup n.310+296dup c.1836dup (p.Met613HisfsTer4) c.2133dup (p.Met712HisfsTer4) c.2115dup (p.Met706HisfsTer4) c.1824dup (p.Met609HisfsTer4) c.1752dup (p.Met585HisfsTer4) n.2618dup n.2557dup n.2511dup | gnomAD v4 |
2 | g.25240345G>A | CA346069805 | DNMT3A | c.598C>T c.1425C>T (n.1425C>T) c.1610C>T (p.Ala537Val) c.2279C>T (p.Ala760Val) c.1712C>T (p.Ala571Val) n.498C>T n.651C>T n.598C>T n.279C>T n.310+295C>T c.1835C>T (p.Ala612Val) c.2132C>T (p.Ala711Val) c.2114C>T (p.Ala705Val) c.1823C>T (p.Ala608Val) c.1751C>T (p.Ala584Val) n.2617C>T n.2556C>T n.2510C>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25240345G>C | CA346069807 | DNMT3A | c.598C>G c.1425C>G (n.1425C>G) c.1610C>G (p.Ala537Gly) c.2279C>G (p.Ala760Gly) c.1712C>G (p.Ala571Gly) n.498C>G n.651C>G n.598C>G n.279C>G n.310+295C>G c.1835C>G (p.Ala612Gly) c.2132C>G (p.Ala711Gly) c.2114C>G (p.Ala705Gly) c.1823C>G (p.Ala608Gly) c.1751C>G (p.Ala584Gly) n.2617C>G n.2556C>G n.2510C>G | dbSNP |
2 | g.25240345G= | CA1239265183 | DNMT3A | c.598C= c.1425C= (n.1425C=) c.1610C= (p.Ala537=) c.2279C= (p.Ala760=) c.1712C= (p.Ala571=) n.498C= n.651C= n.598C= n.279C= n.310+295C= c.1835C= (p.Ala612=) c.2132C= (p.Ala711=) c.2114C= (p.Ala705=) c.1823C= (p.Ala608=) c.1751C= (p.Ala584=) n.2617C= n.2556C= n.2510C= | |
2 | g.25240345G>T | CA346069809 | DNMT3A | c.598C>A c.1425C>A (n.1425C>A) c.1610C>A (p.Ala537Asp) c.2279C>A (p.Ala760Asp) c.1712C>A (p.Ala571Asp) n.498C>A n.651C>A n.598C>A n.279C>A n.310+295C>A c.1835C>A (p.Ala612Asp) c.2132C>A (p.Ala711Asp) c.2114C>A (p.Ala705Asp) c.1823C>A (p.Ala608Asp) c.1751C>A (p.Ala584Asp) n.2617C>A n.2556C>A n.2510C>A | dbSNP |
2 | g.25240346C>A | CA346069815 | DNMT3A | c.597G>T c.1424G>T (n.1424G>T) c.1609G>T (p.Ala537Ser) c.2278G>T (p.Ala760Ser) c.1711G>T (p.Ala571Ser) n.497G>T n.650G>T n.597G>T n.278G>T n.310+294G>T c.1834G>T (p.Ala612Ser) c.2131G>T (p.Ala711Ser) c.2113G>T (p.Ala705Ser) c.1822G>T (p.Ala608Ser) c.1750G>T (p.Ala584Ser) n.2616G>T n.2555G>T n.2509G>T | |
2 | g.25240346C>G | CA346069814 | DNMT3A | c.597G>C c.1424G>C (n.1424G>C) c.1609G>C (p.Ala537Pro) c.2278G>C (p.Ala760Pro) c.1711G>C (p.Ala571Pro) n.497G>C n.650G>C n.597G>C n.278G>C n.310+294G>C c.1834G>C (p.Ala612Pro) c.2131G>C (p.Ala711Pro) c.2113G>C (p.Ala705Pro) c.1822G>C (p.Ala608Pro) c.1750G>C (p.Ala584Pro) n.2616G>C n.2555G>C n.2509G>C | COSMIC |
2 | g.25240346C>T | CA346069813 | DNMT3A | c.597G>A c.1424G>A (n.1424G>A) c.1609G>A (p.Ala537Thr) c.2278G>A (p.Ala760Thr) c.1711G>A (p.Ala571Thr) n.497G>A n.650G>A n.597G>A n.278G>A n.310+294G>A c.1834G>A (p.Ala612Thr) c.2131G>A (p.Ala711Thr) c.2113G>A (p.Ala705Thr) c.1822G>A (p.Ala608Thr) c.1750G>A (p.Ala584Thr) n.2616G>A n.2555G>A n.2509G>A | gnomAD v4 |
2 | g.25240347del | CA645515168 | DNMT3A | c.597del c.1424del (n.1424del) c.1609del (p.Ala537ProfsTer19) c.2278del (p.Ala760ProfsTer19) c.1711del (p.Ala571ProfsTer19) c.2278del (p.Ala760ProfsTer?) n.497del n.650del n.597del n.278del n.310+294del c.1834del (p.Ala612ProfsTer19) c.2131del (p.Ala711ProfsTer19) c.2113del (p.Ala705ProfsTer19) c.1822del (p.Ala608ProfsTer19) c.1750del (p.Ala584ProfsTer19) n.2616del n.2555del n.2509del | gnomAD v4 COSMIC COSMIC |
2 | g.25240350_25240352del | CA645515169 | DNMT3A | c.595_597del c.1422_1424del (n.1422_1424del) c.1607_1609del (p.Val536del) c.2276_2278del (p.Val759del) c.1709_1711del (p.Val570del) n.495_497del n.648_650del n.595_597del n.276_278del n.310+292_310+294del c.1832_1834del (p.Val611del) c.2129_2131del (p.Val710del) c.2111_2113del (p.Val704del) c.1820_1822del (p.Val607del) c.1748_1750del (p.Val583del) n.2614_2616del n.2553_2555del n.2507_2509del | COSMIC COSMIC |
2 | g.25240347C>A | CA425181424 | DNMT3A | c.596G>T c.1423G>T (n.1423G>T) c.1608G>T (p.Val536=) c.2277G>T (p.Val759=) c.1710G>T (p.Val570=) n.496G>T n.649G>T n.596G>T n.277G>T n.310+293G>T c.1833G>T (p.Val611=) c.2130G>T (p.Val710=) c.2112G>T (p.Val704=) c.1821G>T (p.Val607=) c.1749G>T (p.Val583=) n.2615G>T n.2554G>T n.2508G>T | |
2 | g.25240347C>G | CA425181426 | DNMT3A | c.596G>C c.1423G>C (n.1423G>C) c.1608G>C (p.Val536=) c.2277G>C (p.Val759=) c.1710G>C (p.Val570=) n.496G>C n.649G>C n.596G>C n.277G>C n.310+293G>C c.1833G>C (p.Val611=) c.2130G>C (p.Val710=) c.2112G>C (p.Val704=) c.1821G>C (p.Val607=) c.1749G>C (p.Val583=) n.2615G>C n.2554G>C n.2508G>C | |
2 | g.25240347C>T | CA425181425 | DNMT3A | c.596G>A c.1423G>A (n.1423G>A) c.1608G>A (p.Val536=) c.2277G>A (p.Val759=) c.1710G>A (p.Val570=) n.496G>A n.649G>A n.596G>A n.277G>A n.310+293G>A c.1833G>A (p.Val611=) c.2130G>A (p.Val710=) c.2112G>A (p.Val704=) c.1821G>A (p.Val607=) c.1749G>A (p.Val583=) n.2615G>A n.2554G>A n.2508G>A | |
2 | g.25240349_25240359del | CA2658171999 | DNMT3A | c.586_596del c.1413_1423del (n.1413_1423del) c.1598_1608del (p.Glu533GlyfsTer5) c.2267_2277del (p.Glu756GlyfsTer5) c.1700_1710del (p.Glu567GlyfsTer5) n.486_496del n.639_649del n.586_596del n.267_277del n.310+283_310+293del c.1823_1833del (p.Glu608GlyfsTer5) c.2120_2130del (p.Glu707GlyfsTer5) c.2102_2112del (p.Glu701GlyfsTer5) c.1811_1821del (p.Glu604GlyfsTer5) c.1739_1749del (p.Glu580GlyfsTer5) n.2605_2615del n.2544_2554del n.2498_2508del | gnomAD v4 |
2 | g.25240348del | CA2658172004 | DNMT3A | c.595del c.1422del (n.1422del) c.1607del (p.Val536GlyfsTer20) c.2276del (p.Val759GlyfsTer20) c.1709del (p.Val570GlyfsTer20) c.2276del (p.Val759GlyfsTer?) n.495del n.648del n.595del n.276del n.310+292del c.1832del (p.Val611GlyfsTer20) c.2129del (p.Val710GlyfsTer20) c.2111del (p.Val704GlyfsTer20) c.1820del (p.Val607GlyfsTer20) c.1748del (p.Val583GlyfsTer20) n.2614del n.2553del n.2507del | gnomAD v4 |
2 | g.25240348A>C | CA346069816 | DNMT3A | c.595T>G c.1422T>G (n.1422T>G) c.1607T>G (p.Val536Gly) c.2276T>G (p.Val759Gly) c.1709T>G (p.Val570Gly) n.495T>G n.648T>G n.595T>G n.276T>G n.310+292T>G c.1832T>G (p.Val611Gly) c.2129T>G (p.Val710Gly) c.2111T>G (p.Val704Gly) c.1820T>G (p.Val607Gly) c.1748T>G (p.Val583Gly) n.2614T>G n.2553T>G n.2507T>G | |
2 | g.25240348A>G | CA346069820 | DNMT3A | c.595T>C c.1422T>C (n.1422T>C) c.1607T>C (p.Val536Ala) c.2276T>C (p.Val759Ala) c.1709T>C (p.Val570Ala) n.495T>C n.648T>C n.595T>C n.276T>C n.310+292T>C c.1832T>C (p.Val611Ala) c.2129T>C (p.Val710Ala) c.2111T>C (p.Val704Ala) c.1820T>C (p.Val607Ala) c.1748T>C (p.Val583Ala) n.2614T>C n.2553T>C n.2507T>C | |
2 | g.25240348A>T | CA346069818 | DNMT3A | c.595T>A c.1422T>A (n.1422T>A) c.1607T>A (p.Val536Glu) c.2276T>A (p.Val759Glu) c.1709T>A (p.Val570Glu) n.495T>A n.648T>A n.595T>A n.276T>A n.310+292T>A c.1832T>A (p.Val611Glu) c.2129T>A (p.Val710Glu) c.2111T>A (p.Val704Glu) c.1820T>A (p.Val607Glu) c.1748T>A (p.Val583Glu) n.2614T>A n.2553T>A n.2507T>A | |
2 | g.25240348dup | CA645515170 | DNMT3A | c.595dup c.1422dup (n.1422dup) c.1607dup (p.Ala537GlyfsTer5) c.2276dup (p.Ala760GlyfsTer5) c.1709dup (p.Ala571GlyfsTer5) n.495dup n.648dup n.595dup n.276dup n.310+292dup c.1832dup (p.Ala612GlyfsTer5) c.2129dup (p.Ala711GlyfsTer5) c.2111dup (p.Ala705GlyfsTer5) c.1820dup (p.Ala608GlyfsTer5) c.1748dup (p.Ala584GlyfsTer5) n.2614dup n.2553dup n.2507dup | COSMIC |
2 | g.25240349_25240369del | CA2830782388 | DNMT3A | c.575_595del c.1402_1422del (n.1402_1422del) c.1587_1607del (p.Phe529_Val536delinsLeu) c.2256_2276del (p.Phe752_Val759delinsLeu) c.1689_1709del (p.Phe563_Val570delinsLeu) n.475_495del n.628_648del n.575_595del n.256_276del n.310+272_310+292del c.1812_1832del (p.Phe604_Val611delinsLeu) c.2109_2129del (p.Phe703_Val710delinsLeu) c.2091_2111del (p.Phe697_Val704delinsLeu) c.1800_1820del (p.Phe600_Val607delinsLeu) c.1728_1748del (p.Phe576_Val583delinsLeu) n.2594_2614del n.2533_2553del n.2487_2507del | |
2 | g.25240349C>A | CA346069823 | DNMT3A | c.594G>T c.1421G>T (n.1421G>T) c.1606G>T (p.Val536Leu) c.2275G>T (p.Val759Leu) c.1708G>T (p.Val570Leu) n.494G>T n.647G>T n.594G>T n.275G>T n.310+291G>T c.1831G>T (p.Val611Leu) c.2128G>T (p.Val710Leu) c.2110G>T (p.Val704Leu) c.1819G>T (p.Val607Leu) c.1747G>T (p.Val583Leu) n.2613G>T n.2552G>T n.2506G>T | |
2 | g.25240349C>G | CA346069825 | DNMT3A | c.594G>C c.1421G>C (n.1421G>C) c.1606G>C (p.Val536Leu) c.2275G>C (p.Val759Leu) c.1708G>C (p.Val570Leu) n.494G>C n.647G>C n.594G>C n.275G>C n.310+291G>C c.1831G>C (p.Val611Leu) c.2128G>C (p.Val710Leu) c.2110G>C (p.Val704Leu) c.1819G>C (p.Val607Leu) c.1747G>C (p.Val583Leu) n.2613G>C n.2552G>C n.2506G>C | |
2 | g.25240349C>T | CA346069826 | DNMT3A | c.594G>A c.1421G>A (n.1421G>A) c.1606G>A (p.Val536Met) c.2275G>A (p.Val759Met) c.1708G>A (p.Val570Met) n.494G>A n.647G>A n.594G>A n.275G>A n.310+291G>A c.1831G>A (p.Val611Met) c.2128G>A (p.Val710Met) c.2110G>A (p.Val704Met) c.1819G>A (p.Val607Met) c.1747G>A (p.Val583Met) n.2613G>A n.2552G>A n.2506G>A | dbSNP gnomAD v4 |
2 | g.25240350del | CA2573332154 | DNMT3A | c.594del c.1421del (n.1421del) c.1606del (p.Val536TrpfsTer20) c.2275del (p.Val759TrpfsTer20) c.1708del (p.Val570TrpfsTer20) c.2275del (p.Val759TrpfsTer?) n.494del n.647del n.594del n.275del n.310+291del c.1831del (p.Val611TrpfsTer20) c.2128del (p.Val710TrpfsTer20) c.2110del (p.Val704TrpfsTer20) c.1819del (p.Val607TrpfsTer20) c.1747del (p.Val583TrpfsTer20) n.2613del n.2552del n.2506del | dbSNP |
2 | g.25240349_25240350insT | CA425181427 | DNMT3A | c.593_594insA c.1420_1421insA (n.1420_1421insA) c.1605_1606insA (p.Val536SerfsTer6) c.2274_2275insA (p.Val759SerfsTer6) c.1707_1708insA (p.Val570SerfsTer6) n.493_494insA n.646_647insA n.593_594insA n.274_275insA n.310+290_310+291insA c.1830_1831insA (p.Val611SerfsTer6) c.2127_2128insA (p.Val710SerfsTer6) c.2109_2110insA (p.Val704SerfsTer6) c.1818_1819insA (p.Val607SerfsTer6) c.1746_1747insA (p.Val583SerfsTer6) n.2612_2613insA n.2551_2552insA n.2505_2506insA | |
2 | g.25240350C>A | CA425181428 | DNMT3A | c.593G>T c.1420G>T (n.1420G>T) c.1605G>T (p.Val535=) c.2274G>T (p.Val758=) c.1707G>T (p.Val569=) n.493G>T n.646G>T n.593G>T n.274G>T n.310+290G>T c.1830G>T (p.Val610=) c.2127G>T (p.Val709=) c.2109G>T (p.Val703=) c.1818G>T (p.Val606=) c.1746G>T (p.Val582=) n.2612G>T n.2551G>T n.2505G>T | |
2 | g.25240350C>G | CA425181429 | DNMT3A | c.593G>C c.1420G>C (n.1420G>C) c.1605G>C (p.Val535=) c.2274G>C (p.Val758=) c.1707G>C (p.Val569=) n.493G>C n.646G>C n.593G>C n.274G>C n.310+290G>C c.1830G>C (p.Val610=) c.2127G>C (p.Val709=) c.2109G>C (p.Val703=) c.1818G>C (p.Val606=) c.1746G>C (p.Val582=) n.2612G>C n.2551G>C n.2505G>C | |
2 | g.25240350C>T | CA425181430 | DNMT3A | c.593G>A c.1420G>A (n.1420G>A) c.1605G>A (p.Val535=) c.2274G>A (p.Val758=) c.1707G>A (p.Val569=) n.493G>A n.646G>A n.593G>A n.274G>A n.310+290G>A c.1830G>A (p.Val610=) c.2127G>A (p.Val709=) c.2109G>A (p.Val703=) c.1818G>A (p.Val606=) c.1746G>A (p.Val582=) n.2612G>A n.2551G>A n.2505G>A | |
2 | g.25240352_25240353dup | CA2658172010 | DNMT3A | c.592_593dup c.1419_1420dup (n.1419_1420dup) c.1604_1605dup (p.Val536TrpfsTer21) c.2273_2274dup (p.Val759TrpfsTer21) c.1706_1707dup (p.Val570TrpfsTer21) c.2273_2274dup (p.Val759TrpfsTer?) n.492_493dup n.645_646dup n.592_593dup n.273_274dup n.310+289_310+290dup c.1829_1830dup (p.Val611TrpfsTer21) c.2126_2127dup (p.Val710TrpfsTer21) c.2108_2109dup (p.Val704TrpfsTer21) c.1817_1818dup (p.Val607TrpfsTer21) c.1745_1746dup (p.Val583TrpfsTer21) n.2611_2612dup n.2550_2551dup n.2504_2505dup | gnomAD v4 |
2 | g.25240352_25240353del | CA2576693903 | DNMT3A | c.592_593del c.1419_1420del (n.1419_1420del) c.1604_1605del (p.Val535GlyfsTer6) c.2273_2274del (p.Val758GlyfsTer6) c.1706_1707del (p.Val569GlyfsTer6) n.492_493del n.645_646del n.592_593del n.273_274del n.310+289_310+290del c.1829_1830del (p.Val610GlyfsTer6) c.2126_2127del (p.Val709GlyfsTer6) c.2108_2109del (p.Val703GlyfsTer6) c.1817_1818del (p.Val606GlyfsTer6) c.1745_1746del (p.Val582GlyfsTer6) n.2611_2612del n.2550_2551del n.2504_2505del | gnomAD v4 |
2 | g.25240351A>C | CA346069829 | DNMT3A | c.592T>G c.1419T>G (n.1419T>G) c.1604T>G (p.Val535Gly) c.2273T>G (p.Val758Gly) c.1706T>G (p.Val569Gly) n.492T>G n.645T>G n.592T>G n.273T>G n.310+289T>G c.1829T>G (p.Val610Gly) c.2126T>G (p.Val709Gly) c.2108T>G (p.Val703Gly) c.1817T>G (p.Val606Gly) c.1745T>G (p.Val582Gly) n.2611T>G n.2550T>G n.2504T>G | gnomAD v4 |
2 | g.25240351A>G | CA346069831 | DNMT3A | c.592T>C c.1419T>C (n.1419T>C) c.1604T>C (p.Val535Ala) c.2273T>C (p.Val758Ala) c.1706T>C (p.Val569Ala) n.492T>C n.645T>C n.592T>C n.273T>C n.310+289T>C c.1829T>C (p.Val610Ala) c.2126T>C (p.Val709Ala) c.2108T>C (p.Val703Ala) c.1817T>C (p.Val606Ala) c.1745T>C (p.Val582Ala) n.2611T>C n.2550T>C n.2504T>C | |
2 | g.25240351A>T | CA346069832 | DNMT3A | c.592T>A c.1419T>A (n.1419T>A) c.1604T>A (p.Val535Glu) c.2273T>A (p.Val758Glu) c.1706T>A (p.Val569Glu) n.492T>A n.645T>A n.592T>A n.273T>A n.310+289T>A c.1829T>A (p.Val610Glu) c.2126T>A (p.Val709Glu) c.2108T>A (p.Val703Glu) c.1817T>A (p.Val606Glu) c.1745T>A (p.Val582Glu) n.2611T>A n.2550T>A n.2504T>A | |
2 | g.25240352C>A | CA346069835 | DNMT3A | c.591G>T c.1418G>T (n.1418G>T) c.1603G>T (p.Val535Leu) c.2272G>T (p.Val758Leu) c.1705G>T (p.Val569Leu) n.491G>T n.644G>T n.591G>T n.272G>T n.310+288G>T c.1828G>T (p.Val610Leu) c.2125G>T (p.Val709Leu) c.2107G>T (p.Val703Leu) c.1816G>T (p.Val606Leu) c.1744G>T (p.Val582Leu) n.2610G>T n.2549G>T n.2503G>T | |
2 | g.25240352C= | CA1239265184 | DNMT3A | c.591G= c.1418G= (n.1418G=) c.1603G= (p.Val535=) c.2272G= (p.Val758=) c.1705G= (p.Val569=) n.491G= n.644G= n.591G= n.272G= n.310+288G= c.1828G= (p.Val610=) c.2125G= (p.Val709=) c.2107G= (p.Val703=) c.1816G= (p.Val606=) c.1744G= (p.Val582=) n.2610G= n.2549G= n.2503G= | |
2 | g.25240352C>G | CA346069838 | DNMT3A | c.591G>C c.1418G>C (n.1418G>C) c.1603G>C (p.Val535Leu) c.2272G>C (p.Val758Leu) c.1705G>C (p.Val569Leu) n.491G>C n.644G>C n.591G>C n.272G>C n.310+288G>C c.1828G>C (p.Val610Leu) c.2125G>C (p.Val709Leu) c.2107G>C (p.Val703Leu) c.1816G>C (p.Val606Leu) c.1744G>C (p.Val582Leu) n.2610G>C n.2549G>C n.2503G>C | |
2 | g.25240352C>T | CA346069840 | DNMT3A | c.591G>A c.1418G>A (n.1418G>A) c.1603G>A (p.Val535Met) c.2272G>A (p.Val758Met) c.1705G>A (p.Val569Met) n.491G>A n.644G>A n.591G>A n.272G>A n.310+288G>A c.1828G>A (p.Val610Met) c.2125G>A (p.Val709Met) c.2107G>A (p.Val703Met) c.1816G>A (p.Val606Met) c.1744G>A (p.Val582Met) n.2610G>A n.2549G>A n.2503G>A | gnomAD v4 COSMIC COSMIC |
2 | g.25240352_25240353delinsCA | CA1239265185 | DNMT3A | c.590_591delinsTG c.1417_1418delinsTG (n.1417_1418delinsTG) c.1602_1603delinsTG (p.Asn534=) c.2271_2272delinsTG (p.Asn757=) c.1704_1705delinsTG (p.Asn568=) n.490_491delinsTG n.643_644delinsTG n.590_591delinsTG n.271_272delinsTG n.310+287_310+288delinsTG c.1827_1828delinsTG (p.Asn609=) c.2124_2125delinsTG (p.Asn708=) c.2106_2107delinsTG (p.Asn702=) c.1815_1816delinsTG (p.Asn605=) c.1743_1744delinsTG (p.Asn581=) n.2609_2610delinsTG n.2548_2549delinsTG n.2502_2503delinsTG | |
2 | g.25240352_25240353insTG | CA2658172027 | DNMT3A | c.590_591insCA c.1417_1418insCA (n.1417_1418insCA) c.1602_1603insCA (p.Val535GlnfsTer22) c.2271_2272insCA (p.Val758GlnfsTer22) c.1704_1705insCA (p.Val569GlnfsTer22) c.2271_2272insCA (p.Val758GlnfsTer?) n.490_491insCA n.643_644insCA n.590_591insCA n.271_272insCA n.310+287_310+288insCA c.1827_1828insCA (p.Val610GlnfsTer22) c.2124_2125insCA (p.Val709GlnfsTer22) c.2106_2107insCA (p.Val703GlnfsTer22) c.1815_1816insCA (p.Val606GlnfsTer22) c.1743_1744insCA (p.Val582GlnfsTer22) n.2609_2610insCA n.2548_2549insCA n.2502_2503insCA | gnomAD v4 |
2 | g.25240352_25240353insTGAG | CA1555667 | DNMT3A | c.590_591insCTCA c.1417_1418insCTCA (n.1417_1418insCTCA) c.1602_1603insCTCA (p.Val535LeufsTer8) c.2271_2272insCTCA (p.Val758LeufsTer8) c.1704_1705insCTCA (p.Val569LeufsTer8) n.490_491insCTCA n.643_644insCTCA n.590_591insCTCA n.271_272insCTCA n.310+287_310+288insCTCA c.1827_1828insCTCA (p.Val610LeufsTer8) c.2124_2125insCTCA (p.Val709LeufsTer8) c.2106_2107insCTCA (p.Val703LeufsTer8) c.1815_1816insCTCA (p.Val606LeufsTer8) c.1743_1744insCTCA (p.Val582LeufsTer8) n.2609_2610insCTCA n.2548_2549insCTCA n.2502_2503insCTCA | dbSNP ExAC |
2 | g.25240353del | CA1239265188 | DNMT3A | c.590del c.1417del (n.1417del) c.1602del (p.Asn534LysfsTer22) c.2271del (p.Asn757LysfsTer22) c.1704del (p.Asn568LysfsTer22) c.2271del (p.Asn757LysfsTer?) n.490del n.643del n.590del n.271del n.310+287del c.1827del (p.Asn609LysfsTer22) c.2124del (p.Asn708LysfsTer22) c.2106del (p.Asn702LysfsTer22) c.1815del (p.Asn605LysfsTer22) c.1743del (p.Asn581LysfsTer22) n.2609del n.2548del n.2502del | dbSNP gnomAD v4 |
2 | g.25240353A>C | CA346069843 | DNMT3A | c.590T>G c.1417T>G (n.1417T>G) c.1602T>G (p.Asn534Lys) c.2271T>G (p.Asn757Lys) c.1704T>G (p.Asn568Lys) n.490T>G n.643T>G n.590T>G n.271T>G n.310+287T>G c.1827T>G (p.Asn609Lys) c.2124T>G (p.Asn708Lys) c.2106T>G (p.Asn702Lys) c.1815T>G (p.Asn605Lys) c.1743T>G (p.Asn581Lys) n.2609T>G n.2548T>G n.2502T>G | gnomAD v4 |
2 | g.25240353A>G | CA425181431 | DNMT3A | c.590T>C c.1417T>C (n.1417T>C) c.1602T>C (p.Asn534=) c.2271T>C (p.Asn757=) c.1704T>C (p.Asn568=) n.490T>C n.643T>C n.590T>C n.271T>C n.310+287T>C c.1827T>C (p.Asn609=) c.2124T>C (p.Asn708=) c.2106T>C (p.Asn702=) c.1815T>C (p.Asn605=) c.1743T>C (p.Asn581=) n.2609T>C n.2548T>C n.2502T>C | |
2 | g.25240353A>T | CA346069845 | DNMT3A | c.590T>A c.1417T>A (n.1417T>A) c.1602T>A (p.Asn534Lys) c.2271T>A (p.Asn757Lys) c.1704T>A (p.Asn568Lys) n.490T>A n.643T>A n.590T>A n.271T>A n.310+287T>A c.1827T>A (p.Asn609Lys) c.2124T>A (p.Asn708Lys) c.2106T>A (p.Asn702Lys) c.1815T>A (p.Asn605Lys) c.1743T>A (p.Asn581Lys) n.2609T>A n.2548T>A n.2502T>A | gnomAD v4 |
2 | g.25240354T>A | CA1555668 | DNMT3A | c.589A>T c.1416A>T (n.1416A>T) c.1601A>T (p.Asn534Ile) c.2270A>T (p.Asn757Ile) c.1703A>T (p.Asn568Ile) n.489A>T n.642A>T n.589A>T n.270A>T n.310+286A>T c.1826A>T (p.Asn609Ile) c.2123A>T (p.Asn708Ile) c.2105A>T (p.Asn702Ile) c.1814A>T (p.Asn605Ile) c.1742A>T (p.Asn581Ile) n.2608A>T n.2547A>T n.2501A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25240354T>C | CA346069846 | DNMT3A | c.589A>G c.1416A>G (n.1416A>G) c.1601A>G (p.Asn534Ser) c.2270A>G (p.Asn757Ser) c.1703A>G (p.Asn568Ser) n.489A>G n.642A>G n.589A>G n.270A>G n.310+286A>G c.1826A>G (p.Asn609Ser) c.2123A>G (p.Asn708Ser) c.2105A>G (p.Asn702Ser) c.1814A>G (p.Asn605Ser) c.1742A>G (p.Asn581Ser) n.2608A>G n.2547A>G n.2501A>G | |
2 | g.25240354T>G | CA346069849 | DNMT3A | c.589A>C c.1416A>C (n.1416A>C) c.1601A>C (p.Asn534Thr) c.2270A>C (p.Asn757Thr) c.1703A>C (p.Asn568Thr) n.489A>C n.642A>C n.589A>C n.270A>C n.310+286A>C c.1826A>C (p.Asn609Thr) c.2123A>C (p.Asn708Thr) c.2105A>C (p.Asn702Thr) c.1814A>C (p.Asn605Thr) c.1742A>C (p.Asn581Thr) n.2608A>C n.2547A>C n.2501A>C | |
2 | g.25240354T= | CA1239265190 | DNMT3A | c.589A= c.1416A= (n.1416A=) c.1601A= (p.Asn534=) c.2270A= (p.Asn757=) c.1703A= (p.Asn568=) n.489A= n.642A= n.589A= n.270A= n.310+286A= c.1826A= (p.Asn609=) c.2123A= (p.Asn708=) c.2105A= (p.Asn702=) c.1814A= (p.Asn605=) c.1742A= (p.Asn581=) n.2608A= n.2547A= n.2501A= | |
2 | g.25240355dup | CA2658172037 | DNMT3A | c.589dup c.1416dup (n.1416dup) c.1601dup (p.Asn534LysfsTer8) c.2270dup (p.Asn757LysfsTer8) c.1703dup (p.Asn568LysfsTer8) n.489dup n.642dup n.589dup n.270dup n.310+286dup c.1826dup (p.Asn609LysfsTer8) c.2123dup (p.Asn708LysfsTer8) c.2105dup (p.Asn702LysfsTer8) c.1814dup (p.Asn605LysfsTer8) c.1742dup (p.Asn581LysfsTer8) n.2608dup n.2547dup n.2501dup | gnomAD v4 |
2 | g.25240355del | CA1028506307 | DNMT3A | c.589del c.1416del (n.1416del) c.1601del (p.Asn534MetfsTer22) c.2270del (p.Asn757MetfsTer22) c.1703del (p.Asn568MetfsTer22) c.2270del (p.Asn757MetfsTer?) n.489del n.642del n.589del n.270del n.310+286del c.1826del (p.Asn609MetfsTer22) c.2123del (p.Asn708MetfsTer22) c.2105del (p.Asn702MetfsTer22) c.1814del (p.Asn605MetfsTer22) c.1742del (p.Asn581MetfsTer22) n.2608del n.2547del n.2501del | gnomAD v3 gnomAD v4 |
2 | g.25240355T>A | CA346069851 | DNMT3A | c.588A>T c.1415A>T (n.1415A>T) c.1600A>T (p.Asn534Tyr) c.2269A>T (p.Asn757Tyr) c.1702A>T (p.Asn568Tyr) n.488A>T n.641A>T n.588A>T n.269A>T n.310+285A>T c.1825A>T (p.Asn609Tyr) c.2122A>T (p.Asn708Tyr) c.2104A>T (p.Asn702Tyr) c.1813A>T (p.Asn605Tyr) c.1741A>T (p.Asn581Tyr) n.2607A>T n.2546A>T n.2500A>T | gnomAD v4 |
2 | g.25240355T>C | CA346069853 | DNMT3A | c.588A>G c.1415A>G (n.1415A>G) c.1600A>G (p.Asn534Asp) c.2269A>G (p.Asn757Asp) c.1702A>G (p.Asn568Asp) n.488A>G n.641A>G n.588A>G n.269A>G n.310+285A>G c.1825A>G (p.Asn609Asp) c.2122A>G (p.Asn708Asp) c.2104A>G (p.Asn702Asp) c.1813A>G (p.Asn605Asp) c.1741A>G (p.Asn581Asp) n.2607A>G n.2546A>G n.2500A>G | |
2 | g.25240355T>G | CA346069855 | DNMT3A | c.588A>C c.1415A>C (n.1415A>C) c.1600A>C (p.Asn534His) c.2269A>C (p.Asn757His) c.1702A>C (p.Asn568His) n.488A>C n.641A>C n.588A>C n.269A>C n.310+285A>C c.1825A>C (p.Asn609His) c.2122A>C (p.Asn708His) c.2104A>C (p.Asn702His) c.1813A>C (p.Asn605His) c.1741A>C (p.Asn581His) n.2607A>C n.2546A>C n.2500A>C | |
2 | g.25240355_25240375del | CA531369115 | DNMT3A | c.568_588del c.1395_1415del (n.1395_1415del) c.1580_1600del (p.Pro527_Asn534delinsHis) c.2249_2269del (p.Pro750_Asn757delinsHis) c.1682_1702del (p.Pro561_Asn568delinsHis) n.468_488del n.621_641del n.568_588del n.249_269del n.310+265_310+285del c.1805_1825del (p.Pro602_Asn609delinsHis) c.2102_2122del (p.Pro701_Asn708delinsHis) c.2084_2104del (p.Pro695_Asn702delinsHis) c.1793_1813del (p.Pro598_Asn605delinsHis) c.1721_1741del (p.Pro574_Asn581delinsHis) n.2587_2607del n.2526_2546del n.2480_2500del | gnomAD v2 gnomAD v4 |
2 | g.25240356C>A | CA1555669 | DNMT3A | c.587G>T c.1414G>T (n.1414G>T) c.1599G>T (p.Glu533Asp) c.2268G>T (p.Glu756Asp) c.1701G>T (p.Glu567Asp) n.487G>T n.640G>T n.587G>T n.268G>T n.310+284G>T c.1824G>T (p.Glu608Asp) c.2121G>T (p.Glu707Asp) c.2103G>T (p.Glu701Asp) c.1812G>T (p.Glu604Asp) c.1740G>T (p.Glu580Asp) n.2606G>T n.2545G>T n.2499G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25240356C= | CA1239265193 | DNMT3A | c.587G= c.1414G= (n.1414G=) c.1599G= (p.Glu533=) c.2268G= (p.Glu756=) c.1701G= (p.Glu567=) n.487G= n.640G= n.587G= n.268G= n.310+284G= c.1824G= (p.Glu608=) c.2121G= (p.Glu707=) c.2103G= (p.Glu701=) c.1812G= (p.Glu604=) c.1740G= (p.Glu580=) n.2606G= n.2545G= n.2499G= | |
2 | g.25240356C>G | CA346069859 | DNMT3A | c.587G>C c.1414G>C (n.1414G>C) c.1599G>C (p.Glu533Asp) c.2268G>C (p.Glu756Asp) c.1701G>C (p.Glu567Asp) n.487G>C n.640G>C n.587G>C n.268G>C n.310+284G>C c.1824G>C (p.Glu608Asp) c.2121G>C (p.Glu707Asp) c.2103G>C (p.Glu701Asp) c.1812G>C (p.Glu604Asp) c.1740G>C (p.Glu580Asp) n.2606G>C n.2545G>C n.2499G>C | |
2 | g.25240356C>T | CA425181432 | DNMT3A | c.587G>A c.1414G>A (n.1414G>A) c.1599G>A (p.Glu533=) c.2268G>A (p.Glu756=) c.1701G>A (p.Glu567=) n.487G>A n.640G>A n.587G>A n.268G>A n.310+284G>A c.1824G>A (p.Glu608=) c.2121G>A (p.Glu707=) c.2103G>A (p.Glu701=) c.1812G>A (p.Glu604=) c.1740G>A (p.Glu580=) n.2606G>A n.2545G>A n.2499G>A | |
2 | g.25240356_25240370del | CA2576693905 | DNMT3A | c.573_587del c.1400_1414del (n.1400_1414del) c.1585_1599del (p.Phe529_Glu533del) c.2254_2268del (p.Phe752_Glu756del) c.1687_1701del (p.Phe563_Glu567del) n.473_487del n.626_640del n.573_587del n.254_268del n.310+270_310+284del c.1810_1824del (p.Phe604_Glu608del) c.2107_2121del (p.Phe703_Glu707del) c.2089_2103del (p.Phe697_Glu701del) c.1798_1812del (p.Phe600_Glu604del) c.1726_1740del (p.Phe576_Glu580del) n.2592_2606del n.2531_2545del n.2485_2499del | |
2 | g.25240357T>A | CA346069861 | DNMT3A | c.586A>T c.1413A>T (n.1413A>T) c.1598A>T (p.Glu533Val) c.2267A>T (p.Glu756Val) c.1700A>T (p.Glu567Val) n.486A>T n.639A>T n.586A>T n.267A>T n.310+283A>T c.1823A>T (p.Glu608Val) c.2120A>T (p.Glu707Val) c.2102A>T (p.Glu701Val) c.1811A>T (p.Glu604Val) c.1739A>T (p.Glu580Val) n.2605A>T n.2544A>T n.2498A>T | dbSNP |
2 | g.25240357T>C | CA346069863 | DNMT3A | c.586A>G c.1413A>G (n.1413A>G) c.1598A>G (p.Glu533Gly) c.2267A>G (p.Glu756Gly) c.1700A>G (p.Glu567Gly) n.486A>G n.639A>G n.586A>G n.267A>G n.310+283A>G c.1823A>G (p.Glu608Gly) c.2120A>G (p.Glu707Gly) c.2102A>G (p.Glu701Gly) c.1811A>G (p.Glu604Gly) c.1739A>G (p.Glu580Gly) n.2605A>G n.2544A>G n.2498A>G | |
2 | g.25240357T>G | CA346069865 | DNMT3A | c.586A>C c.1413A>C (n.1413A>C) c.1598A>C (p.Glu533Ala) c.2267A>C (p.Glu756Ala) c.1700A>C (p.Glu567Ala) n.486A>C n.639A>C n.586A>C n.267A>C n.310+283A>C c.1823A>C (p.Glu608Ala) c.2120A>C (p.Glu707Ala) c.2102A>C (p.Glu701Ala) c.1811A>C (p.Glu604Ala) c.1739A>C (p.Glu580Ala) n.2605A>C n.2544A>C n.2498A>C | |
2 | g.25240358C>A | CA346069867 | DNMT3A | c.585G>T c.1412G>T (n.1412G>T) c.1597G>T (p.Glu533Ter) c.2266G>T (p.Glu756Ter) c.1699G>T (p.Glu567Ter) n.485G>T n.638G>T n.585G>T n.266G>T n.310+282G>T c.1822G>T (p.Glu608Ter) c.2119G>T (p.Glu707Ter) c.2101G>T (p.Glu701Ter) c.1810G>T (p.Glu604Ter) c.1738G>T (p.Glu580Ter) n.2604G>T n.2543G>T n.2497G>T | COSMIC COSMIC |
2 | g.25240358C= | CA1239265196 | DNMT3A | c.585G= c.1412G= (n.1412G=) c.1597G= (p.Glu533=) c.2266G= (p.Glu756=) c.1699G= (p.Glu567=) n.485G= n.638G= n.585G= n.266G= n.310+282G= c.1822G= (p.Glu608=) c.2119G= (p.Glu707=) c.2101G= (p.Glu701=) c.1810G= (p.Glu604=) c.1738G= (p.Glu580=) n.2604G= n.2543G= n.2497G= | |
2 | g.25240358C>G | CA346069869 | DNMT3A | c.585G>C c.1412G>C (n.1412G>C) c.1597G>C (p.Glu533Gln) c.2266G>C (p.Glu756Gln) c.1699G>C (p.Glu567Gln) n.485G>C n.638G>C n.585G>C n.266G>C n.310+282G>C c.1822G>C (p.Glu608Gln) c.2119G>C (p.Glu707Gln) c.2101G>C (p.Glu701Gln) c.1810G>C (p.Glu604Gln) c.1738G>C (p.Glu580Gln) n.2604G>C n.2543G>C n.2497G>C | |
2 | g.25240358C>T | CA346069871 | DNMT3A | c.585G>A c.1412G>A (n.1412G>A) c.1597G>A (p.Glu533Lys) c.2266G>A (p.Glu756Lys) c.1699G>A (p.Glu567Lys) n.485G>A n.638G>A n.585G>A n.266G>A n.310+282G>A c.1822G>A (p.Glu608Lys) c.2119G>A (p.Glu707Lys) c.2101G>A (p.Glu701Lys) c.1810G>A (p.Glu604Lys) c.1738G>A (p.Glu580Lys) n.2604G>A n.2543G>A n.2497G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25240358_25240359dup | CA2576693906 | DNMT3A | c.584_585dup c.1411_1412dup (n.1411_1412dup) c.1596_1597dup (p.Glu533ValfsTer24) c.2265_2266dup (p.Glu756ValfsTer24) c.1698_1699dup (p.Glu567ValfsTer24) c.2265_2266dup (p.Glu756ValfsTer?) n.484_485dup n.637_638dup n.584_585dup n.265_266dup n.310+281_310+282dup c.1821_1822dup (p.Glu608ValfsTer24) c.2118_2119dup (p.Glu707ValfsTer24) c.2100_2101dup (p.Glu701ValfsTer24) c.1809_1810dup (p.Glu604ValfsTer24) c.1737_1738dup (p.Glu580ValfsTer24) n.2603_2604dup n.2542_2543dup n.2496_2497dup | |
2 | g.25240358_25240360delinsCAA | CA1239265195 | DNMT3A | c.583_585delinsTTG c.1410_1412delinsTTG (n.1410_1412delinsTTG) c.1595_1597delinsTTG (p.Phe532=) c.2264_2266delinsTTG (p.Phe755=) c.1697_1699delinsTTG (p.Phe566=) n.483_485delinsTTG n.636_638delinsTTG n.583_585delinsTTG n.264_266delinsTTG n.310+280_310+282delinsTTG c.1820_1822delinsTTG (p.Phe607=) c.2117_2119delinsTTG (p.Phe706=) c.2099_2101delinsTTG (p.Phe700=) c.1808_1810delinsTTG (p.Phe603=) c.1736_1738delinsTTG (p.Phe579=) n.2602_2604delinsTTG n.2541_2543delinsTTG n.2495_2497delinsTTG | |
2 | g.25240359A= | CA1239265201 | DNMT3A | c.584T= c.1411T= (n.1411T=) c.1596T= (p.Phe532=) c.2265T= (p.Phe755=) c.1698T= (p.Phe566=) n.484T= n.637T= n.584T= n.265T= n.310+281T= c.1821T= (p.Phe607=) c.2118T= (p.Phe706=) c.2100T= (p.Phe700=) c.1809T= (p.Phe603=) c.1737T= (p.Phe579=) n.2603T= n.2542T= n.2496T= | |
2 | g.25240359A>C | CA346069877 | DNMT3A | c.584T>G c.1411T>G (n.1411T>G) c.1596T>G (p.Phe532Leu) c.2265T>G (p.Phe755Leu) c.1698T>G (p.Phe566Leu) n.484T>G n.637T>G n.584T>G n.265T>G n.310+281T>G c.1821T>G (p.Phe607Leu) c.2118T>G (p.Phe706Leu) c.2100T>G (p.Phe700Leu) c.1809T>G (p.Phe603Leu) c.1737T>G (p.Phe579Leu) n.2603T>G n.2542T>G n.2496T>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25240359A>G | CA425181433 | DNMT3A | c.584T>C c.1411T>C (n.1411T>C) c.1596T>C (p.Phe532=) c.2265T>C (p.Phe755=) c.1698T>C (p.Phe566=) n.484T>C n.637T>C n.584T>C n.265T>C n.310+281T>C c.1821T>C (p.Phe607=) c.2118T>C (p.Phe706=) c.2100T>C (p.Phe700=) c.1809T>C (p.Phe603=) c.1737T>C (p.Phe579=) n.2603T>C n.2542T>C n.2496T>C | |
2 | g.25240359A>T | CA346069876 | DNMT3A | c.584T>A c.1411T>A (n.1411T>A) c.1596T>A (p.Phe532Leu) c.2265T>A (p.Phe755Leu) c.1698T>A (p.Phe566Leu) n.484T>A n.637T>A n.584T>A n.265T>A n.310+281T>A c.1821T>A (p.Phe607Leu) c.2118T>A (p.Phe706Leu) c.2100T>A (p.Phe700Leu) c.1809T>A (p.Phe603Leu) c.1737T>A (p.Phe579Leu) n.2603T>A n.2542T>A n.2496T>A | |
2 | g.25240361dup | CA531369116 | DNMT3A | c.584dup c.1411dup (n.1411dup) c.1596dup (p.Glu533Ter) c.2265dup (p.Glu756Ter) c.1698dup (p.Glu567Ter) n.484dup n.637dup n.584dup n.265dup n.310+281dup c.1821dup (p.Glu608Ter) c.2118dup (p.Glu707Ter) c.2100dup (p.Glu701Ter) c.1809dup (p.Glu604Ter) c.1737dup (p.Glu580Ter) n.2603dup n.2542dup n.2496dup | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25240361del | CA1555670 | DNMT3A | c.584del c.1411del (n.1411del) c.1596del (p.Phe532LeufsTer24) c.2265del (p.Phe755LeufsTer24) c.1698del (p.Phe566LeufsTer24) c.2265del (p.Phe755LeufsTer?) n.484del n.637del n.584del n.265del n.310+281del c.1821del (p.Phe607LeufsTer24) c.2118del (p.Phe706LeufsTer24) c.2100del (p.Phe700LeufsTer24) c.1809del (p.Phe603LeufsTer24) c.1737del (p.Phe579LeufsTer24) n.2603del n.2542del n.2496del | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25240360_25240361del | CA1555671 | DNMT3A | c.583_584del c.1410_1411del (n.1410_1411del) c.1595_1596del (p.Phe532Ter) c.2264_2265del (p.Phe755Ter) c.1697_1698del (p.Phe566Ter) n.483_484del n.636_637del n.583_584del n.264_265del n.310+280_310+281del c.1820_1821del (p.Phe607Ter) c.2117_2118del (p.Phe706Ter) c.2099_2100del (p.Phe700Ter) c.1808_1809del (p.Phe603Ter) c.1736_1737del (p.Phe579Ter) n.2602_2603del n.2541_2542del n.2495_2496del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25240359_25240370del | CA2576693907 | DNMT3A | c.573_584del c.1400_1411del (n.1400_1411del) c.1585_1596del (p.Phe529_Phe532del) c.2254_2265del (p.Phe752_Phe755del) c.1687_1698del (p.Phe563_Phe566del) n.473_484del n.626_637del n.573_584del n.254_265del n.310+270_310+281del c.1810_1821del (p.Phe604_Phe607del) c.2107_2118del (p.Phe703_Phe706del) c.2089_2100del (p.Phe697_Phe700del) c.1798_1809del (p.Phe600_Phe603del) c.1726_1737del (p.Phe576_Phe579del) n.2592_2603del n.2531_2542del n.2485_2496del | gnomAD v4 |
2 | g.25240360A= | CA1239265205 | DNMT3A | c.583T= c.1410T= (n.1410T=) c.1595T= (p.Phe532=) c.2264T= (p.Phe755=) c.1697T= (p.Phe566=) n.483T= n.636T= n.583T= n.264T= n.310+280T= c.1820T= (p.Phe607=) c.2117T= (p.Phe706=) c.2099T= (p.Phe700=) c.1808T= (p.Phe603=) c.1736T= (p.Phe579=) n.2602T= n.2541T= n.2495T= | |
2 | g.25240360A>C | CA43698655 | DNMT3A | c.583T>G c.1410T>G (n.1410T>G) c.1595T>G (p.Phe532Cys) c.2264T>G (p.Phe755Cys) c.1697T>G (p.Phe566Cys) n.483T>G n.636T>G n.583T>G n.264T>G n.310+280T>G c.1820T>G (p.Phe607Cys) c.2117T>G (p.Phe706Cys) c.2099T>G (p.Phe700Cys) c.1808T>G (p.Phe603Cys) c.1736T>G (p.Phe579Cys) n.2602T>G n.2541T>G n.2495T>G | dbSNP gnomAD v4 |
2 | g.25240360A>G | CA1555672 | DNMT3A | c.583T>C c.1410T>C (n.1410T>C) c.1595T>C (p.Phe532Ser) c.2264T>C (p.Phe755Ser) c.1697T>C (p.Phe566Ser) n.483T>C n.636T>C n.583T>C n.264T>C n.310+280T>C c.1820T>C (p.Phe607Ser) c.2117T>C (p.Phe706Ser) c.2099T>C (p.Phe700Ser) c.1808T>C (p.Phe603Ser) c.1736T>C (p.Phe579Ser) n.2602T>C n.2541T>C n.2495T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.25240360A>T | CA346069880 | DNMT3A | c.583T>A c.1410T>A (n.1410T>A) c.1595T>A (p.Phe532Tyr) c.2264T>A (p.Phe755Tyr) c.1697T>A (p.Phe566Tyr) n.483T>A n.636T>A n.583T>A n.264T>A n.310+280T>A c.1820T>A (p.Phe607Tyr) c.2117T>A (p.Phe706Tyr) c.2099T>A (p.Phe700Tyr) c.1808T>A (p.Phe603Tyr) c.1736T>A (p.Phe579Tyr) n.2602T>A n.2541T>A n.2495T>A | |
2 | g.25240361A= | CA1239265207 | DNMT3A | c.582T= c.1409T= (n.1409T=) c.1594T= (p.Phe532=) c.2263T= (p.Phe755=) c.1696T= (p.Phe566=) n.482T= n.635T= n.582T= n.263T= n.310+279T= c.1819T= (p.Phe607=) c.2116T= (p.Phe706=) c.2098T= (p.Phe700=) c.1807T= (p.Phe603=) c.1735T= (p.Phe579=) n.2601T= n.2540T= n.2494T= | |
2 | g.25240361A>C | CA346069882 | DNMT3A | c.582T>G c.1409T>G (n.1409T>G) c.1594T>G (p.Phe532Val) c.2263T>G (p.Phe755Val) c.1696T>G (p.Phe566Val) n.482T>G n.635T>G n.582T>G n.263T>G n.310+279T>G c.1819T>G (p.Phe607Val) c.2116T>G (p.Phe706Val) c.2098T>G (p.Phe700Val) c.1807T>G (p.Phe603Val) c.1735T>G (p.Phe579Val) n.2601T>G n.2540T>G n.2494T>G | dbSNP gnomAD v4 |
2 | g.25240361A>G | CA346069884 | DNMT3A | c.582T>C c.1409T>C (n.1409T>C) c.1594T>C (p.Phe532Leu) c.2263T>C (p.Phe755Leu) c.1696T>C (p.Phe566Leu) n.482T>C n.635T>C n.582T>C n.263T>C n.310+279T>C c.1819T>C (p.Phe607Leu) c.2116T>C (p.Phe706Leu) c.2098T>C (p.Phe700Leu) c.1807T>C (p.Phe603Leu) c.1735T>C (p.Phe579Leu) n.2601T>C n.2540T>C n.2494T>C | dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.25240361A>T | CA43698672 | DNMT3A | c.582T>A c.1409T>A (n.1409T>A) c.1594T>A (p.Phe532Ile) c.2263T>A (p.Phe755Ile) c.1696T>A (p.Phe566Ile) n.482T>A n.635T>A n.582T>A n.263T>A n.310+279T>A c.1819T>A (p.Phe607Ile) c.2116T>A (p.Phe706Ile) c.2098T>A (p.Phe700Ile) c.1807T>A (p.Phe603Ile) c.1735T>A (p.Phe579Ile) n.2601T>A n.2540T>A n.2494T>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25240361_25240362delinsAG | CA1239265209 | DNMT3A | c.581_582delinsCT c.1408_1409delinsCT (n.1408_1409delinsCT) c.1593_1594delinsCT (p.Leu531=) c.2262_2263delinsCT (p.Leu754=) c.1695_1696delinsCT (p.Leu565=) n.481_482delinsCT n.634_635delinsCT n.581_582delinsCT n.262_263delinsCT n.310+278_310+279delinsCT c.1818_1819delinsCT (p.Leu606=) c.2115_2116delinsCT (p.Leu705=) c.2097_2098delinsCT (p.Leu699=) c.1806_1807delinsCT (p.Leu602=) c.1734_1735delinsCT (p.Leu578=) n.2600_2601delinsCT n.2539_2540delinsCT n.2493_2494delinsCT | |
2 | g.25240364_25240369del | CA2576693908 | DNMT3A | c.577_582del c.1404_1409del (n.1404_1409del) c.1589_1594del (p.Trp530_Leu531del) c.2258_2263del (p.Trp753_Leu754del) c.1691_1696del (p.Trp564_Leu565del) n.477_482del n.630_635del n.577_582del n.258_263del n.310+274_310+279del c.1814_1819del (p.Trp605_Leu606del) c.2111_2116del (p.Trp704_Leu705del) c.2093_2098del (p.Trp698_Leu699del) c.1802_1807del (p.Trp601_Leu602del) c.1730_1735del (p.Trp577_Leu578del) n.2596_2601del n.2535_2540del n.2489_2494del | |
2 | g.25240362del | CA1555673 | DNMT3A | c.581del c.1408del (n.1408del) c.1593del (p.Phe532LeufsTer24) c.2262del (p.Phe755LeufsTer24) c.1695del (p.Phe566LeufsTer24) c.2262del (p.Phe755LeufsTer?) n.481del n.634del n.581del n.262del n.310+278del c.1818del (p.Phe607LeufsTer24) c.2115del (p.Phe706LeufsTer24) c.2097del (p.Phe700LeufsTer24) c.1806del (p.Phe603LeufsTer24) c.1734del (p.Phe579LeufsTer24) n.2600del n.2539del n.2493del | dbSNP ExAC gnomAD v2 |
2 | g.25240362G>A | CA425181434 | DNMT3A | c.581C>T c.1408C>T (n.1408C>T) c.1593C>T (p.Leu531=) c.2262C>T (p.Leu754=) c.1695C>T (p.Leu565=) n.481C>T n.634C>T n.581C>T n.262C>T n.310+278C>T c.1818C>T (p.Leu606=) c.2115C>T (p.Leu705=) c.2097C>T (p.Leu699=) c.1806C>T (p.Leu602=) c.1734C>T (p.Leu578=) n.2600C>T n.2539C>T n.2493C>T | |
2 | g.25240362G>C | CA425181435 | DNMT3A | c.581C>G c.1408C>G (n.1408C>G) c.1593C>G (p.Leu531=) c.2262C>G (p.Leu754=) c.1695C>G (p.Leu565=) n.481C>G n.634C>G n.581C>G n.262C>G n.310+278C>G c.1818C>G (p.Leu606=) c.2115C>G (p.Leu705=) c.2097C>G (p.Leu699=) c.1806C>G (p.Leu602=) c.1734C>G (p.Leu578=) n.2600C>G n.2539C>G n.2493C>G | |
2 | g.25240362G>T | CA425181436 | DNMT3A | c.581C>A c.1408C>A (n.1408C>A) c.1593C>A (p.Leu531=) c.2262C>A (p.Leu754=) c.1695C>A (p.Leu565=) n.481C>A n.634C>A n.581C>A n.262C>A n.310+278C>A c.1818C>A (p.Leu606=) c.2115C>A (p.Leu705=) c.2097C>A (p.Leu699=) c.1806C>A (p.Leu602=) c.1734C>A (p.Leu578=) n.2600C>A n.2539C>A n.2493C>A | dbSNP |
2 | g.25240363A= | CA1239265214 | DNMT3A | c.580T= c.1407T= (n.1407T=) c.1592T= (p.Leu531=) c.2261T= (p.Leu754=) c.1694T= (p.Leu565=) n.480T= n.633T= n.580T= n.261T= n.310+277T= c.1817T= (p.Leu606=) c.2114T= (p.Leu705=) c.2096T= (p.Leu699=) c.1805T= (p.Leu602=) c.1733T= (p.Leu578=) n.2599T= n.2538T= n.2492T= | |
2 | g.25240363A>C | CA1555674 | DNMT3A | c.580T>G c.1407T>G (n.1407T>G) c.1592T>G (p.Leu531Arg) c.2261T>G (p.Leu754Arg) c.1694T>G (p.Leu565Arg) n.480T>G n.633T>G n.580T>G n.261T>G n.310+277T>G c.1817T>G (p.Leu606Arg) c.2114T>G (p.Leu705Arg) c.2096T>G (p.Leu699Arg) c.1805T>G (p.Leu602Arg) c.1733T>G (p.Leu578Arg) n.2599T>G n.2538T>G n.2492T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.25240363A>G | CA346069893 | DNMT3A | c.580T>C c.1407T>C (n.1407T>C) c.1592T>C (p.Leu531Pro) c.2261T>C (p.Leu754Pro) c.1694T>C (p.Leu565Pro) n.480T>C n.633T>C n.580T>C n.261T>C n.310+277T>C c.1817T>C (p.Leu606Pro) c.2114T>C (p.Leu705Pro) c.2096T>C (p.Leu699Pro) c.1805T>C (p.Leu602Pro) c.1733T>C (p.Leu578Pro) n.2599T>C n.2538T>C n.2492T>C | gnomAD v4 |
2 | g.25240363A>T | CA346069896 | DNMT3A | c.580T>A c.1407T>A (n.1407T>A) c.1592T>A (p.Leu531His) c.2261T>A (p.Leu754His) c.1694T>A (p.Leu565His) n.480T>A n.633T>A n.580T>A n.261T>A n.310+277T>A c.1817T>A (p.Leu606His) c.2114T>A (p.Leu705His) c.2096T>A (p.Leu699His) c.1805T>A (p.Leu602His) c.1733T>A (p.Leu578His) n.2599T>A n.2538T>A n.2492T>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25240364G>A | CA346069898 | DNMT3A | c.579C>T c.1406C>T (n.1406C>T) c.1591C>T (p.Leu531Phe) c.2260C>T (p.Leu754Phe) c.1693C>T (p.Leu565Phe) n.479C>T n.632C>T n.579C>T n.260C>T n.310+276C>T c.1816C>T (p.Leu606Phe) c.2113C>T (p.Leu705Phe) c.2095C>T (p.Leu699Phe) c.1804C>T (p.Leu602Phe) c.1732C>T (p.Leu578Phe) n.2598C>T n.2537C>T n.2491C>T | |
2 | g.25240364G>C | CA346069901 | DNMT3A | c.579C>G c.1406C>G (n.1406C>G) c.1591C>G (p.Leu531Val) c.2260C>G (p.Leu754Val) c.1693C>G (p.Leu565Val) n.479C>G n.632C>G n.579C>G n.260C>G n.310+276C>G c.1816C>G (p.Leu606Val) c.2113C>G (p.Leu705Val) c.2095C>G (p.Leu699Val) c.1804C>G (p.Leu602Val) c.1732C>G (p.Leu578Val) n.2598C>G n.2537C>G n.2491C>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25240364G= | CA1239265216 | DNMT3A | c.579C= c.1406C= (n.1406C=) c.1591C= (p.Leu531=) c.2260C= (p.Leu754=) c.1693C= (p.Leu565=) n.479C= n.632C= n.579C= n.260C= n.310+276C= c.1816C= (p.Leu606=) c.2113C= (p.Leu705=) c.2095C= (p.Leu699=) c.1804C= (p.Leu602=) c.1732C= (p.Leu578=) n.2598C= n.2537C= n.2491C= | |
2 | g.25240364G>T | CA346069902 | DNMT3A | c.579C>A c.1406C>A (n.1406C>A) c.1591C>A (p.Leu531Ile) c.2260C>A (p.Leu754Ile) c.1693C>A (p.Leu565Ile) n.479C>A n.632C>A n.579C>A n.260C>A n.310+276C>A c.1816C>A (p.Leu606Ile) c.2113C>A (p.Leu705Ile) c.2095C>A (p.Leu699Ile) c.1804C>A (p.Leu602Ile) c.1732C>A (p.Leu578Ile) n.2598C>A n.2537C>A n.2491C>A | |
2 | g.25240365C>A | CA346069905 | DNMT3A | c.578G>T c.1405G>T (n.1405G>T) c.1590G>T (p.Trp530Cys) c.2259G>T (p.Trp753Cys) c.1692G>T (p.Trp564Cys) n.478G>T n.631G>T n.578G>T n.259G>T n.310+275G>T c.1815G>T (p.Trp605Cys) c.2112G>T (p.Trp704Cys) c.2094G>T (p.Trp698Cys) c.1803G>T (p.Trp601Cys) c.1731G>T (p.Trp577Cys) n.2597G>T n.2536G>T n.2490G>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25240365C= | CA1239265219 | DNMT3A | c.578G= c.1405G= (n.1405G=) c.1590G= (p.Trp530=) c.2259G= (p.Trp753=) c.1692G= (p.Trp564=) n.478G= n.631G= n.578G= n.259G= n.310+275G= c.1815G= (p.Trp605=) c.2112G= (p.Trp704=) c.2094G= (p.Trp698=) c.1803G= (p.Trp601=) c.1731G= (p.Trp577=) n.2597G= n.2536G= n.2490G= | |
2 | g.25240365C>G | CA1555675 | DNMT3A | c.578G>C c.1405G>C (n.1405G>C) c.1590G>C (p.Trp530Cys) c.2259G>C (p.Trp753Cys) c.1692G>C (p.Trp564Cys) n.478G>C n.631G>C n.578G>C n.259G>C n.310+275G>C c.1815G>C (p.Trp605Cys) c.2112G>C (p.Trp704Cys) c.2094G>C (p.Trp698Cys) c.1803G>C (p.Trp601Cys) c.1731G>C (p.Trp577Cys) n.2597G>C n.2536G>C n.2490G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25240365C>T | CA346069907 | DNMT3A | c.578G>A c.1405G>A (n.1405G>A) c.1590G>A (p.Trp530Ter) c.2259G>A (p.Trp753Ter) c.1692G>A (p.Trp564Ter) n.478G>A n.631G>A n.578G>A n.259G>A n.310+275G>A c.1815G>A (p.Trp605Ter) c.2112G>A (p.Trp704Ter) c.2094G>A (p.Trp698Ter) c.1803G>A (p.Trp601Ter) c.1731G>A (p.Trp577Ter) n.2597G>A n.2536G>A n.2490G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.25240367_25240392dup | CA2658172102 | DNMT3A | c.553_578dup c.1380_1405dup (n.1380_1405dup) c.1565_1590dup (p.Leu531ArgfsTer34) c.2234_2259dup (p.Leu754ArgfsTer34) c.1667_1692dup (p.Leu565ArgfsTer34) c.2234_2259dup (p.Leu754ArgfsTer?) n.453_478dup n.606_631dup n.553_578dup n.234_259dup n.310+250_310+275dup c.1790_1815dup (p.Leu606ArgfsTer34) c.2087_2112dup (p.Leu705ArgfsTer34) c.2069_2094dup (p.Leu699ArgfsTer34) c.1778_1803dup (p.Leu602ArgfsTer34) c.1706_1731dup (p.Leu578ArgfsTer34) n.2572_2597dup n.2511_2536dup n.2465_2490dup | gnomAD v4 |
2 | g.25240366C>A | CA346069911 | DNMT3A | c.577G>T c.1404G>T (n.1404G>T) c.1589G>T (p.Trp530Leu) c.2258G>T (p.Trp753Leu) c.1691G>T (p.Trp564Leu) n.477G>T n.630G>T n.577G>T n.258G>T n.310+274G>T c.1814G>T (p.Trp605Leu) c.2111G>T (p.Trp704Leu) c.2093G>T (p.Trp698Leu) c.1802G>T (p.Trp601Leu) c.1730G>T (p.Trp577Leu) n.2596G>T n.2535G>T n.2489G>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25240366C= | CA1239265223 | DNMT3A | c.577G= c.1404G= (n.1404G=) c.1589G= (p.Trp530=) c.2258G= (p.Trp753=) c.1691G= (p.Trp564=) n.477G= n.630G= n.577G= n.258G= n.310+274G= c.1814G= (p.Trp605=) c.2111G= (p.Trp704=) c.2093G= (p.Trp698=) c.1802G= (p.Trp601=) c.1730G= (p.Trp577=) n.2596G= n.2535G= n.2489G= | |
2 | g.25240366C>G | CA1555677 | DNMT3A | c.577G>C c.1404G>C (n.1404G>C) c.1589G>C (p.Trp530Ser) c.2258G>C (p.Trp753Ser) c.1691G>C (p.Trp564Ser) n.477G>C n.630G>C n.577G>C n.258G>C n.310+274G>C c.1814G>C (p.Trp605Ser) c.2111G>C (p.Trp704Ser) c.2093G>C (p.Trp698Ser) c.1802G>C (p.Trp601Ser) c.1730G>C (p.Trp577Ser) n.2596G>C n.2535G>C n.2489G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25240366C>T | CA346069914 | DNMT3A | c.577G>A c.1404G>A (n.1404G>A) c.1589G>A (p.Trp530Ter) c.2258G>A (p.Trp753Ter) c.1691G>A (p.Trp564Ter) n.477G>A n.630G>A n.577G>A n.258G>A n.310+274G>A c.1814G>A (p.Trp605Ter) c.2111G>A (p.Trp704Ter) c.2093G>A (p.Trp698Ter) c.1802G>A (p.Trp601Ter) c.1730G>A (p.Trp577Ter) n.2596G>A n.2535G>A n.2489G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.25240366_25240368del | CA2658172112 | DNMT3A | c.575_577del c.1402_1404del (n.1402_1404del) c.1587_1589del (p.Phe529_Trp530delinsLeu) c.2256_2258del (p.Phe752_Trp753delinsLeu) c.1689_1691del (p.Phe563_Trp564delinsLeu) n.475_477del n.628_630del n.575_577del n.256_258del n.310+272_310+274del c.1812_1814del (p.Phe604_Trp605delinsLeu) c.2109_2111del (p.Phe703_Trp704delinsLeu) c.2091_2093del (p.Phe697_Trp698delinsLeu) c.1800_1802del (p.Phe600_Trp601delinsLeu) c.1728_1730del (p.Phe576_Trp577delinsLeu) n.2594_2596del n.2533_2535del n.2487_2489del | gnomAD v4 |
2 | g.25240366_25240369delinsCAGA | CA1239265222 | DNMT3A | c.574_577delinsTCTG c.1401_1404delinsTCTG (n.1401_1404delinsTCTG) c.1586_1589delinsTCTG (p.Phe529=) c.2255_2258delinsTCTG (p.Phe752=) c.1688_1691delinsTCTG (p.Phe563=) n.474_477delinsTCTG n.627_630delinsTCTG n.574_577delinsTCTG n.255_258delinsTCTG n.310+271_310+274delinsTCTG c.1811_1814delinsTCTG (p.Phe604=) c.2108_2111delinsTCTG (p.Phe703=) c.2090_2093delinsTCTG (p.Phe697=) c.1799_1802delinsTCTG (p.Phe600=) c.1727_1730delinsTCTG (p.Phe576=) n.2593_2596delinsTCTG n.2532_2535delinsTCTG n.2486_2489delinsTCTG | |
2 | g.25240367A= | CA1239265229 | DNMT3A | c.576T= c.1403T= (n.1403T=) c.1588T= (p.Trp530=) c.2257T= (p.Trp753=) c.1690T= (p.Trp564=) n.476T= n.629T= n.576T= n.257T= n.310+273T= c.1813T= (p.Trp605=) c.2110T= (p.Trp704=) c.2092T= (p.Trp698=) c.1801T= (p.Trp601=) c.1729T= (p.Trp577=) n.2595T= n.2534T= n.2488T= | |
2 | g.25240367A>C | CA346069917 | DNMT3A | c.576T>G c.1403T>G (n.1403T>G) c.1588T>G (p.Trp530Gly) c.2257T>G (p.Trp753Gly) c.1690T>G (p.Trp564Gly) n.476T>G n.629T>G n.576T>G n.257T>G n.310+273T>G c.1813T>G (p.Trp605Gly) c.2110T>G (p.Trp704Gly) c.2092T>G (p.Trp698Gly) c.1801T>G (p.Trp601Gly) c.1729T>G (p.Trp577Gly) n.2595T>G n.2534T>G n.2488T>G | dbSNP gnomAD v4 COSMIC |
2 | g.25240367A>G | CA346069919 | DNMT3A | c.576T>C c.1403T>C (n.1403T>C) c.1588T>C (p.Trp530Arg) c.2257T>C (p.Trp753Arg) c.1690T>C (p.Trp564Arg) n.476T>C n.629T>C n.576T>C n.257T>C n.310+273T>C c.1813T>C (p.Trp605Arg) c.2110T>C (p.Trp704Arg) c.2092T>C (p.Trp698Arg) c.1801T>C (p.Trp601Arg) c.1729T>C (p.Trp577Arg) n.2595T>C n.2534T>C n.2488T>C | gnomAD v4 |
2 | g.25240367A>T | CA346069921 | DNMT3A | c.576T>A c.1403T>A (n.1403T>A) c.1588T>A (p.Trp530Arg) c.2257T>A (p.Trp753Arg) c.1690T>A (p.Trp564Arg) n.476T>A n.629T>A n.576T>A n.257T>A n.310+273T>A c.1813T>A (p.Trp605Arg) c.2110T>A (p.Trp704Arg) c.2092T>A (p.Trp698Arg) c.1801T>A (p.Trp601Arg) c.1729T>A (p.Trp577Arg) n.2595T>A n.2534T>A n.2488T>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25240367_25240368delinsAG | CA1239265230 | DNMT3A | c.575_576delinsCT c.1402_1403delinsCT (n.1402_1403delinsCT) c.1587_1588delinsCT (p.Phe529=) c.2256_2257delinsCT (p.Phe752=) c.1689_1690delinsCT (p.Phe563=) n.475_476delinsCT n.628_629delinsCT n.575_576delinsCT n.256_257delinsCT n.310+272_310+273delinsCT c.1812_1813delinsCT (p.Phe604=) c.2109_2110delinsCT (p.Phe703=) c.2091_2092delinsCT (p.Phe697=) c.1800_1801delinsCT (p.Phe600=) c.1728_1729delinsCT (p.Phe576=) n.2594_2595delinsCT n.2533_2534delinsCT n.2487_2488delinsCT | |
2 | g.25240368_25240369del | CA2658172136 | DNMT3A | c.575_576del c.1402_1403del (n.1402_1403del) c.1587_1588del (p.Phe529LeufsTer4) c.2256_2257del (p.Phe752LeufsTer4) c.1689_1690del (p.Phe563LeufsTer4) n.475_476del n.628_629del n.575_576del n.256_257del n.310+272_310+273del c.1812_1813del (p.Phe604LeufsTer4) c.2109_2110del (p.Phe703LeufsTer4) c.2091_2092del (p.Phe697LeufsTer4) c.1800_1801del (p.Phe600LeufsTer4) c.1728_1729del (p.Phe576LeufsTer4) n.2594_2595del n.2533_2534del n.2487_2488del | gnomAD v4 |
2 | g.25240372_25240374del | CA1555676 | DNMT3A | c.574_576del c.1401_1403del (n.1401_1403del) c.1586_1588del (p.Phe529del) c.2255_2257del (p.Phe752del) c.1688_1690del (p.Phe563del) n.474_476del n.627_629del n.574_576del n.255_257del n.310+271_310+273del c.1811_1813del (p.Phe604del) c.2108_2110del (p.Phe703del) c.2090_2092del (p.Phe697del) c.1799_1801del (p.Phe600del) c.1727_1729del (p.Phe576del) n.2593_2595del n.2532_2534del n.2486_2488del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.25240368del | CA1555678 | DNMT3A | c.575del c.1402del (n.1402del) c.1587del (p.Trp530GlyfsTer26) c.2256del (p.Trp753GlyfsTer26) c.1689del (p.Trp564GlyfsTer26) c.2256del (p.Trp753GlyfsTer?) n.475del n.628del n.575del n.256del n.310+272del c.1812del (p.Trp605GlyfsTer26) c.2109del (p.Trp704GlyfsTer26) c.2091del (p.Trp698GlyfsTer26) c.1800del (p.Trp601GlyfsTer26) c.1728del (p.Trp577GlyfsTer26) n.2594del n.2533del n.2487del | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25240368G>A | CA425181437 | DNMT3A | c.575C>T c.1402C>T (n.1402C>T) c.1587C>T (p.Phe529=) c.2256C>T (p.Phe752=) c.1689C>T (p.Phe563=) n.475C>T n.628C>T n.575C>T n.256C>T n.310+272C>T c.1812C>T (p.Phe604=) c.2109C>T (p.Phe703=) c.2091C>T (p.Phe697=) c.1800C>T (p.Phe600=) c.1728C>T (p.Phe576=) n.2594C>T n.2533C>T n.2487C>T | dbSNP gnomAD v4 |
2 | g.25240368G>C | CA1555679 | DNMT3A | c.575C>G c.1402C>G (n.1402C>G) c.1587C>G (p.Phe529Leu) c.2256C>G (p.Phe752Leu) c.1689C>G (p.Phe563Leu) n.475C>G n.628C>G n.575C>G n.256C>G n.310+272C>G c.1812C>G (p.Phe604Leu) c.2109C>G (p.Phe703Leu) c.2091C>G (p.Phe697Leu) c.1800C>G (p.Phe600Leu) c.1728C>G (p.Phe576Leu) n.2594C>G n.2533C>G n.2487C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25240368G= | CA1239265235 | DNMT3A | c.575C= c.1402C= (n.1402C=) c.1587C= (p.Phe529=) c.2256C= (p.Phe752=) c.1689C= (p.Phe563=) n.475C= n.628C= n.575C= n.256C= n.310+272C= c.1812C= (p.Phe604=) c.2109C= (p.Phe703=) c.2091C= (p.Phe697=) c.1800C= (p.Phe600=) c.1728C= (p.Phe576=) n.2594C= n.2533C= n.2487C= | |
2 | g.25240368G>T | CA346069924 | DNMT3A | c.575C>A c.1402C>A (n.1402C>A) c.1587C>A (p.Phe529Leu) c.2256C>A (p.Phe752Leu) c.1689C>A (p.Phe563Leu) n.475C>A n.628C>A n.575C>A n.256C>A n.310+272C>A c.1812C>A (p.Phe604Leu) c.2109C>A (p.Phe703Leu) c.2091C>A (p.Phe697Leu) c.1800C>A (p.Phe600Leu) c.1728C>A (p.Phe576Leu) n.2594C>A n.2533C>A n.2487C>A | |
2 | g.25240370_25240380del | CA2658172141 | DNMT3A | c.565_575del c.1392_1402del (n.1392_1402del) c.1577_1587del (p.Arg526LeufsTer4) c.2246_2256del (p.Arg749LeufsTer4) c.1679_1689del (p.Arg560LeufsTer4) n.465_475del n.618_628del n.565_575del n.246_256del n.310+262_310+272del c.1802_1812del (p.Arg601LeufsTer4) c.2099_2109del (p.Arg700LeufsTer4) c.2081_2091del (p.Arg694LeufsTer4) c.1790_1800del (p.Arg597LeufsTer4) c.1718_1728del (p.Arg573LeufsTer4) n.2584_2594del n.2523_2533del n.2477_2487del | gnomAD v4 |
2 | g.25240368_25240369insC | CA2576693911 | DNMT3A | c.574_575insG c.1401_1402insG (n.1401_1402insG) c.1586_1587insG (p.Phe529LeufsTer5) c.2255_2256insG (p.Phe752LeufsTer5) c.1688_1689insG (p.Phe563LeufsTer5) n.474_475insG n.627_628insG n.574_575insG n.255_256insG n.310+271_310+272insG c.1811_1812insG (p.Phe604LeufsTer5) c.2108_2109insG (p.Phe703LeufsTer5) c.2090_2091insG (p.Phe697LeufsTer5) c.1799_1800insG (p.Phe600LeufsTer5) c.1727_1728insG (p.Phe576LeufsTer5) n.2593_2594insG n.2532_2533insG n.2486_2487insG | |
2 | g.25240368_25240369insT | CA2695202285 | DNMT3A | c.574_575insA c.1401_1402insA (n.1401_1402insA) c.1586_1587insA (p.Phe529LeufsTer5) c.2255_2256insA (p.Phe752LeufsTer5) c.1688_1689insA (p.Phe563LeufsTer5) n.474_475insA n.627_628insA n.574_575insA n.255_256insA n.310+271_310+272insA c.1811_1812insA (p.Phe604LeufsTer5) c.2108_2109insA (p.Phe703LeufsTer5) c.2090_2091insA (p.Phe697LeufsTer5) c.1799_1800insA (p.Phe600LeufsTer5) c.1727_1728insA (p.Phe576LeufsTer5) n.2593_2594insA n.2532_2533insA n.2486_2487insA | |
2 | g.25240369A= | CA1239265238 | DNMT3A | c.574T= c.1401T= (n.1401T=) c.1586T= (p.Phe529=) c.2255T= (p.Phe752=) c.1688T= (p.Phe563=) n.474T= n.627T= n.574T= n.255T= n.310+271T= c.1811T= (p.Phe604=) c.2108T= (p.Phe703=) c.2090T= (p.Phe697=) c.1799T= (p.Phe600=) c.1727T= (p.Phe576=) n.2593T= n.2532T= n.2486T= | |
2 | g.25240369A>C | CA1555680 | DNMT3A | c.574T>G c.1401T>G (n.1401T>G) c.1586T>G (p.Phe529Cys) c.2255T>G (p.Phe752Cys) c.1688T>G (p.Phe563Cys) n.474T>G n.627T>G n.574T>G n.255T>G n.310+271T>G c.1811T>G (p.Phe604Cys) c.2108T>G (p.Phe703Cys) c.2090T>G (p.Phe697Cys) c.1799T>G (p.Phe600Cys) c.1727T>G (p.Phe576Cys) n.2593T>G n.2532T>G n.2486T>G | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.25240369A>G | CA43698705 | DNMT3A | c.574T>C c.1401T>C (n.1401T>C) c.1586T>C (p.Phe529Ser) c.2255T>C (p.Phe752Ser) c.1688T>C (p.Phe563Ser) n.474T>C n.627T>C n.574T>C n.255T>C n.310+271T>C c.1811T>C (p.Phe604Ser) c.2108T>C (p.Phe703Ser) c.2090T>C (p.Phe697Ser) c.1799T>C (p.Phe600Ser) c.1727T>C (p.Phe576Ser) n.2593T>C n.2532T>C n.2486T>C | dbSNP |
2 | g.25240369A>T | CA346069928 | DNMT3A | c.574T>A c.1401T>A (n.1401T>A) c.1586T>A (p.Phe529Tyr) c.2255T>A (p.Phe752Tyr) c.1688T>A (p.Phe563Tyr) n.474T>A n.627T>A n.574T>A n.255T>A n.310+271T>A c.1811T>A (p.Phe604Tyr) c.2108T>A (p.Phe703Tyr) c.2090T>A (p.Phe697Tyr) c.1799T>A (p.Phe600Tyr) c.1727T>A (p.Phe576Tyr) n.2593T>A n.2532T>A n.2486T>A | |
2 | g.25240370del | CA2658172149 | DNMT3A | c.574del c.1401del (n.1401del) c.1586del (p.Phe529SerfsTer27) c.2255del (p.Phe752SerfsTer27) c.1688del (p.Phe563SerfsTer27) c.2255del (p.Phe752SerfsTer?) n.474del n.627del n.574del n.255del n.310+271del c.1811del (p.Phe604SerfsTer27) c.2108del (p.Phe703SerfsTer27) c.2090del (p.Phe697SerfsTer27) c.1799del (p.Phe600SerfsTer27) c.1727del (p.Phe576SerfsTer27) n.2593del n.2532del n.2486del | gnomAD v4 |
2 | g.25240370A= | CA1239265242 | DNMT3A | c.573T= c.1400T= (n.1400T=) c.1585T= (p.Phe529=) c.2254T= (p.Phe752=) c.1687T= (p.Phe563=) n.473T= n.626T= n.573T= n.254T= n.310+270T= c.1810T= (p.Phe604=) c.2107T= (p.Phe703=) c.2089T= (p.Phe697=) c.1798T= (p.Phe600=) c.1726T= (p.Phe576=) n.2592T= n.2531T= n.2485T= | |
2 | g.25240370A>C | CA43698713 | DNMT3A | c.573T>G c.1400T>G (n.1400T>G) c.1585T>G (p.Phe529Val) c.2254T>G (p.Phe752Val) c.1687T>G (p.Phe563Val) n.473T>G n.626T>G n.573T>G n.254T>G n.310+270T>G c.1810T>G (p.Phe604Val) c.2107T>G (p.Phe703Val) c.2089T>G (p.Phe697Val) c.1798T>G (p.Phe600Val) c.1726T>G (p.Phe576Val) n.2592T>G n.2531T>G n.2485T>G | dbSNP gnomAD v4 COSMIC COSMIC |
2 | g.25240370A>G | CA346069943 | DNMT3A | c.573T>C c.1400T>C (n.1400T>C) c.1585T>C (p.Phe529Leu) c.2254T>C (p.Phe752Leu) c.1687T>C (p.Phe563Leu) n.473T>C n.626T>C n.573T>C n.254T>C n.310+270T>C c.1810T>C (p.Phe604Leu) c.2107T>C (p.Phe703Leu) c.2089T>C (p.Phe697Leu) c.1798T>C (p.Phe600Leu) c.1726T>C (p.Phe576Leu) n.2592T>C n.2531T>C n.2485T>C | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.25240370A>T | CA1555681 | DNMT3A | c.573T>A c.1400T>A (n.1400T>A) c.1585T>A (p.Phe529Ile) c.2254T>A (p.Phe752Ile) c.1687T>A (p.Phe563Ile) n.473T>A n.626T>A n.573T>A n.254T>A n.310+270T>A c.1810T>A (p.Phe604Ile) c.2107T>A (p.Phe703Ile) c.2089T>A (p.Phe697Ile) c.1798T>A (p.Phe600Ile) c.1726T>A (p.Phe576Ile) n.2592T>A n.2531T>A n.2485T>A | dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.25240371_25240372del | CA1028506371 | DNMT3A | c.572_573del c.1399_1400del (n.1399_1400del) c.1584_1585del (p.Phe529LeufsTer4) c.2253_2254del (p.Phe752LeufsTer4) c.1686_1687del (p.Phe563LeufsTer4) n.472_473del n.625_626del n.572_573del n.253_254del n.310+269_310+270del c.1809_1810del (p.Phe604LeufsTer4) c.2106_2107del (p.Phe703LeufsTer4) c.2088_2089del (p.Phe697LeufsTer4) c.1797_1798del (p.Phe600LeufsTer4) c.1725_1726del (p.Phe576LeufsTer4) n.2591_2592del n.2530_2531del n.2484_2485del | gnomAD v3 gnomAD v4 |
2 | g.25240370_25240377del | CA2658172159 | DNMT3A | c.566_573del c.1393_1400del (n.1393_1400del) c.1578_1585del (p.Pro527LeufsTer4) c.2247_2254del (p.Pro750LeufsTer4) c.1680_1687del (p.Pro561LeufsTer4) n.466_473del n.619_626del n.566_573del n.247_254del n.310+263_310+270del c.1803_1810del (p.Pro602LeufsTer4) c.2100_2107del (p.Pro701LeufsTer4) c.2082_2089del (p.Pro695LeufsTer4) c.1791_1798del (p.Pro598LeufsTer4) c.1719_1726del (p.Pro574LeufsTer4) n.2585_2592del n.2524_2531del n.2478_2485del | gnomAD v4 |
2 | g.25240374_25240424del | CA2658172161 | DNMT3A | c.523_573del c.1350_1400del (n.1350_1400del) c.1535_1585del (p.Tyr512_Phe528del) c.2204_2254del (p.Tyr735_Phe751del) c.1637_1687del (p.Tyr546_Phe562del) n.423_473del n.576_626del n.523_573del n.204_254del n.310+220_310+270del c.1760_1810del (p.Tyr587_Phe603del) c.2057_2107del (p.Tyr686_Phe702del) c.2039_2089del (p.Tyr680_Phe696del) c.1748_1798del (p.Tyr583_Phe599del) c.1676_1726del (p.Tyr559_Phe575del) n.2542_2592del n.2481_2531del n.2435_2485del | gnomAD v4 |
2 | g.25240370_25240371insC | CA2658172182 | DNMT3A | c.572_573insG c.1399_1400insG (n.1399_1400insG) c.1584_1585insG (p.Phe529ValfsTer5) c.2253_2254insG (p.Phe752ValfsTer5) c.1686_1687insG (p.Phe563ValfsTer5) n.472_473insG n.625_626insG n.572_573insG n.253_254insG n.310+269_310+270insG c.1809_1810insG (p.Phe604ValfsTer5) c.2106_2107insG (p.Phe703ValfsTer5) c.2088_2089insG (p.Phe697ValfsTer5) c.1797_1798insG (p.Phe600ValfsTer5) c.1725_1726insG (p.Phe576ValfsTer5) n.2591_2592insG n.2530_2531insG n.2484_2485insG | gnomAD v4 |
2 | g.25240370_25240371insT | CA43698718 | DNMT3A | c.572_573insA c.1399_1400insA (n.1399_1400insA) c.1584_1585insA (p.Phe529IlefsTer5) c.2253_2254insA (p.Phe752IlefsTer5) c.1686_1687insA (p.Phe563IlefsTer5) n.472_473insA n.625_626insA n.572_573insA n.253_254insA n.310+269_310+270insA c.1809_1810insA (p.Phe604IlefsTer5) c.2106_2107insA (p.Phe703IlefsTer5) c.2088_2089insA (p.Phe697IlefsTer5) c.1797_1798insA (p.Phe600IlefsTer5) c.1725_1726insA (p.Phe576IlefsTer5) n.2591_2592insA n.2530_2531insA n.2484_2485insA | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25240371del | CA2658172184 | DNMT3A | c.572del c.1399del (n.1399del) c.1584del (p.Phe529SerfsTer27) c.2253del (p.Phe752SerfsTer27) c.1686del (p.Phe563SerfsTer27) c.2253del (p.Phe752SerfsTer?) n.472del n.625del n.572del n.253del n.310+269del c.1809del (p.Phe604SerfsTer27) c.2106del (p.Phe703SerfsTer27) c.2088del (p.Phe697SerfsTer27) c.1797del (p.Phe600SerfsTer27) c.1725del (p.Phe576SerfsTer27) n.2591del n.2530del n.2484del | gnomAD v4 |
2 | g.25240371G>A | CA425181438 | DNMT3A | c.572C>T c.1399C>T (n.1399C>T) c.1584C>T (p.Phe528=) c.2253C>T (p.Phe751=) c.1686C>T (p.Phe562=) n.472C>T n.625C>T n.572C>T n.253C>T n.310+269C>T c.1809C>T (p.Phe603=) c.2106C>T (p.Phe702=) c.2088C>T (p.Phe696=) c.1797C>T (p.Phe599=) c.1725C>T (p.Phe575=) n.2591C>T n.2530C>T n.2484C>T | dbSNP |
2 | g.25240371G>C | CA1555682 | DNMT3A | c.572C>G c.1399C>G (n.1399C>G) c.1584C>G (p.Phe528Leu) c.2253C>G (p.Phe751Leu) c.1686C>G (p.Phe562Leu) n.472C>G n.625C>G n.572C>G n.253C>G n.310+269C>G c.1809C>G (p.Phe603Leu) c.2106C>G (p.Phe702Leu) c.2088C>G (p.Phe696Leu) c.1797C>G (p.Phe599Leu) c.1725C>G (p.Phe575Leu) n.2591C>G n.2530C>G n.2484C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25240371G= | CA1239265250 | DNMT3A | c.572C= c.1399C= (n.1399C=) c.1584C= (p.Phe528=) c.2253C= (p.Phe751=) c.1686C= (p.Phe562=) n.472C= n.625C= n.572C= n.253C= n.310+269C= c.1809C= (p.Phe603=) c.2106C= (p.Phe702=) c.2088C= (p.Phe696=) c.1797C= (p.Phe599=) c.1725C= (p.Phe575=) n.2591C= n.2530C= n.2484C= | |
2 | g.25240371G>T | CA346069947 | DNMT3A | c.572C>A c.1399C>A (n.1399C>A) c.1584C>A (p.Phe528Leu) c.2253C>A (p.Phe751Leu) c.1686C>A (p.Phe562Leu) n.472C>A n.625C>A n.572C>A n.253C>A n.310+269C>A c.1809C>A (p.Phe603Leu) c.2106C>A (p.Phe702Leu) c.2088C>A (p.Phe696Leu) c.1797C>A (p.Phe599Leu) c.1725C>A (p.Phe575Leu) n.2591C>A n.2530C>A n.2484C>A | gnomAD v4 COSMIC |
2 | g.25240371_25240372delinsGA | CA1239265251 | DNMT3A | c.571_572delinsTC c.1398_1399delinsTC (n.1398_1399delinsTC) c.1583_1584delinsTC (p.Phe528=) c.2252_2253delinsTC (p.Phe751=) c.1685_1686delinsTC (p.Phe562=) n.471_472delinsTC n.624_625delinsTC n.571_572delinsTC n.252_253delinsTC n.310+268_310+269delinsTC c.1808_1809delinsTC (p.Phe603=) c.2105_2106delinsTC (p.Phe702=) c.2087_2088delinsTC (p.Phe696=) c.1796_1797delinsTC (p.Phe599=) c.1724_1725delinsTC (p.Phe575=) n.2590_2591delinsTC n.2529_2530delinsTC n.2483_2484delinsTC | |
2 | g.25240378_25240379insTTTGAAGGGGC | CA2658172181 | DNMT3A | c.572_573insAAAGCCCCTTC c.1399_1400insAAAGCCCCTTC (n.1399_1400insAAAGCCCCTTC) c.1584_1585insAAAGCCCCTTC (p.Phe529LysfsTer31) c.2253_2254insAAAGCCCCTTC (p.Phe752LysfsTer31) c.1686_1687insAAAGCCCCTTC (p.Phe563LysfsTer31) c.2253_2254insAAAGCCCCTTC (p.Phe752LysfsTer?) n.472_473insAAAGCCCCTTC n.625_626insAAAGCCCCTTC n.572_573insAAAGCCCCTTC n.253_254insAAAGCCCCTTC n.310+269_310+270insAAAGCCCCTTC c.1809_1810insAAAGCCCCTTC (p.Phe604LysfsTer31) c.2106_2107insAAAGCCCCTTC (p.Phe703LysfsTer31) c.2088_2089insAAAGCCCCTTC (p.Phe697LysfsTer31) c.1797_1798insAAAGCCCCTTC (p.Phe600LysfsTer31) c.1725_1726insAAAGCCCCTTC (p.Phe576LysfsTer31) n.2591_2592insAAAGCCCCTTC n.2530_2531insAAAGCCCCTTC n.2484_2485insAAAGCCCCTTC | gnomAD v4 |
2 | g.25240371_25240372insT | CA2658172189 | DNMT3A | c.571_572insA c.1398_1399insA (n.1398_1399insA) c.1583_1584insA (p.Phe528LeufsTer6) c.2252_2253insA (p.Phe751LeufsTer6) c.1685_1686insA (p.Phe562LeufsTer6) n.471_472insA n.624_625insA n.571_572insA n.252_253insA n.310+268_310+269insA c.1808_1809insA (p.Phe603LeufsTer6) c.2105_2106insA (p.Phe702LeufsTer6) c.2087_2088insA (p.Phe696LeufsTer6) c.1796_1797insA (p.Phe599LeufsTer6) c.1724_1725insA (p.Phe575LeufsTer6) n.2590_2591insA n.2529_2530insA n.2483_2484insA | gnomAD v4 |
2 | g.25240372A= | CA1239265252 | DNMT3A | c.571T= c.1398T= (n.1398T=) c.1583T= (p.Phe528=) c.2252T= (p.Phe751=) c.1685T= (p.Phe562=) n.471T= n.624T= n.571T= n.252T= n.310+268T= c.1808T= (p.Phe603=) c.2105T= (p.Phe702=) c.2087T= (p.Phe696=) c.1796T= (p.Phe599=) c.1724T= (p.Phe575=) n.2590T= n.2529T= n.2483T= | |
2 | g.25240372A>C | CA1555683 | DNMT3A | c.571T>G c.1398T>G (n.1398T>G) c.1583T>G (p.Phe528Cys) c.2252T>G (p.Phe751Cys) c.1685T>G (p.Phe562Cys) n.471T>G n.624T>G n.571T>G n.252T>G n.310+268T>G c.1808T>G (p.Phe603Cys) c.2105T>G (p.Phe702Cys) c.2087T>G (p.Phe696Cys) c.1796T>G (p.Phe599Cys) c.1724T>G (p.Phe575Cys) n.2590T>G n.2529T>G n.2483T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25240372A>G | CA346069953 | DNMT3A | c.571T>C c.1398T>C (n.1398T>C) c.1583T>C (p.Phe528Ser) c.2252T>C (p.Phe751Ser) c.1685T>C (p.Phe562Ser) n.471T>C n.624T>C n.571T>C n.252T>C n.310+268T>C c.1808T>C (p.Phe603Ser) c.2105T>C (p.Phe702Ser) c.2087T>C (p.Phe696Ser) c.1796T>C (p.Phe599Ser) c.1724T>C (p.Phe575Ser) n.2590T>C n.2529T>C n.2483T>C | dbSNP gnomAD v4 |
2 | g.25240372A>T | CA346069951 | DNMT3A | c.571T>A c.1398T>A (n.1398T>A) c.1583T>A (p.Phe528Tyr) c.2252T>A (p.Phe751Tyr) c.1685T>A (p.Phe562Tyr) n.471T>A n.624T>A n.571T>A n.252T>A n.310+268T>A c.1808T>A (p.Phe603Tyr) c.2105T>A (p.Phe702Tyr) c.2087T>A (p.Phe696Tyr) c.1796T>A (p.Phe599Tyr) c.1724T>A (p.Phe575Tyr) n.2590T>A n.2529T>A n.2483T>A | |
2 | g.25240373del | CA1028506381 | DNMT3A | c.571del c.1398del (n.1398del) c.1583del (p.Phe528SerfsTer28) c.2252del (p.Phe751SerfsTer28) c.1685del (p.Phe562SerfsTer28) c.2252del (p.Phe751SerfsTer?) n.471del n.624del n.571del n.252del n.310+268del c.1808del (p.Phe603SerfsTer28) c.2105del (p.Phe702SerfsTer28) c.2087del (p.Phe696SerfsTer28) c.1796del (p.Phe599SerfsTer28) c.1724del (p.Phe575SerfsTer28) n.2590del n.2529del n.2483del | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25240373A= | CA1239265255 | DNMT3A | c.570T= c.1397T= (n.1397T=) c.1582T= (p.Phe528=) c.2251T= (p.Phe751=) c.1684T= (p.Phe562=) n.470T= n.623T= n.570T= n.251T= n.310+267T= c.1807T= (p.Phe603=) c.2104T= (p.Phe702=) c.2086T= (p.Phe696=) c.1795T= (p.Phe599=) c.1723T= (p.Phe575=) n.2589T= n.2528T= n.2482T= | |
2 | g.25240373A>C | CA346069956 | DNMT3A | c.570T>G c.1397T>G (n.1397T>G) c.1582T>G (p.Phe528Val) c.2251T>G (p.Phe751Val) c.1684T>G (p.Phe562Val) n.470T>G n.623T>G n.570T>G n.251T>G n.310+267T>G c.1807T>G (p.Phe603Val) c.2104T>G (p.Phe702Val) c.2086T>G (p.Phe696Val) c.1795T>G (p.Phe599Val) c.1723T>G (p.Phe575Val) n.2589T>G n.2528T>G n.2482T>G | dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.25240373A>G | CA346069958 | DNMT3A | c.570T>C c.1397T>C (n.1397T>C) c.1582T>C (p.Phe528Leu) c.2251T>C (p.Phe751Leu) c.1684T>C (p.Phe562Leu) n.470T>C n.623T>C n.570T>C n.251T>C n.310+267T>C c.1807T>C (p.Phe603Leu) c.2104T>C (p.Phe702Leu) c.2086T>C (p.Phe696Leu) c.1795T>C (p.Phe599Leu) c.1723T>C (p.Phe575Leu) n.2589T>C n.2528T>C n.2482T>C | dbSNP gnomAD v4 |
2 | g.25240373A>T | CA1555684 | DNMT3A | c.570T>A c.1397T>A (n.1397T>A) c.1582T>A (p.Phe528Ile) c.2251T>A (p.Phe751Ile) c.1684T>A (p.Phe562Ile) n.470T>A n.623T>A n.570T>A n.251T>A n.310+267T>A c.1807T>A (p.Phe603Ile) c.2104T>A (p.Phe702Ile) c.2086T>A (p.Phe696Ile) c.1795T>A (p.Phe599Ile) c.1723T>A (p.Phe575Ile) n.2589T>A n.2528T>A n.2482T>A | dbSNP ExAC gnomAD v4 COSMIC COSMIC |
2 | g.25240374G>A | CA425181439 | DNMT3A | c.569C>T c.1396C>T (n.1396C>T) c.1581C>T (p.Pro527=) c.2250C>T (p.Pro750=) c.1683C>T (p.Pro561=) n.469C>T n.622C>T n.569C>T n.250C>T n.310+266C>T c.1806C>T (p.Pro602=) c.2103C>T (p.Pro701=) c.2085C>T (p.Pro695=) c.1794C>T (p.Pro598=) c.1722C>T (p.Pro574=) n.2588C>T n.2527C>T n.2481C>T | |
2 | g.25240374G>C | CA425181440 | DNMT3A | c.569C>G c.1396C>G (n.1396C>G) c.1581C>G (p.Pro527=) c.2250C>G (p.Pro750=) c.1683C>G (p.Pro561=) n.469C>G n.622C>G n.569C>G n.250C>G n.310+266C>G c.1806C>G (p.Pro602=) c.2103C>G (p.Pro701=) c.2085C>G (p.Pro695=) c.1794C>G (p.Pro598=) c.1722C>G (p.Pro574=) n.2588C>G n.2527C>G n.2481C>G | |
2 | g.25240374G>T | CA425181441 | DNMT3A | c.569C>A c.1396C>A (n.1396C>A) c.1581C>A (p.Pro527=) c.2250C>A (p.Pro750=) c.1683C>A (p.Pro561=) n.469C>A n.622C>A n.569C>A n.250C>A n.310+266C>A c.1806C>A (p.Pro602=) c.2103C>A (p.Pro701=) c.2085C>A (p.Pro695=) c.1794C>A (p.Pro598=) c.1722C>A (p.Pro574=) n.2588C>A n.2527C>A n.2481C>A | |
2 | g.25240377dup | CA531369117 | DNMT3A | c.569dup c.1396dup (n.1396dup) c.1581dup (p.Phe528LeufsTer6) c.2250dup (p.Phe751LeufsTer6) c.1683dup (p.Phe562LeufsTer6) n.469dup n.622dup n.569dup n.250dup n.310+266dup c.1806dup (p.Phe603LeufsTer6) c.2103dup (p.Phe702LeufsTer6) c.2085dup (p.Phe696LeufsTer6) c.1794dup (p.Phe599LeufsTer6) c.1722dup (p.Phe575LeufsTer6) n.2588dup n.2527dup n.2481dup | dbSNP gnomAD v2 |
2 | g.25240377del | CA425181442 | DNMT3A | c.569del c.1396del (n.1396del) c.1581del (p.Phe528SerfsTer28) c.2250del (p.Phe751SerfsTer28) c.1683del (p.Phe562SerfsTer28) c.2250del (p.Phe751SerfsTer?) n.469del n.622del n.569del n.250del n.310+266del c.1806del (p.Phe603SerfsTer28) c.2103del (p.Phe702SerfsTer28) c.2085del (p.Phe696SerfsTer28) c.1794del (p.Phe599SerfsTer28) c.1722del (p.Phe575SerfsTer28) n.2588del n.2527del n.2481del | gnomAD v4 COSMIC |
2 | g.25240375G>A | CA346069963 | DNMT3A | c.568C>T c.1395C>T (n.1395C>T) c.1580C>T (p.Pro527Leu) c.2249C>T (p.Pro750Leu) c.1682C>T (p.Pro561Leu) n.468C>T n.621C>T n.568C>T n.249C>T n.310+265C>T c.1805C>T (p.Pro602Leu) c.2102C>T (p.Pro701Leu) c.2084C>T (p.Pro695Leu) c.1793C>T (p.Pro598Leu) c.1721C>T (p.Pro574Leu) n.2587C>T n.2526C>T n.2480C>T | |
2 | g.25240375G>C | CA346069965 | DNMT3A | c.568C>G c.1395C>G (n.1395C>G) c.1580C>G (p.Pro527Arg) c.2249C>G (p.Pro750Arg) c.1682C>G (p.Pro561Arg) n.468C>G n.621C>G n.568C>G n.249C>G n.310+265C>G c.1805C>G (p.Pro602Arg) c.2102C>G (p.Pro701Arg) c.2084C>G (p.Pro695Arg) c.1793C>G (p.Pro598Arg) c.1721C>G (p.Pro574Arg) n.2587C>G n.2526C>G n.2480C>G | gnomAD v4 |
2 | g.25240375G>T | CA346069968 | DNMT3A | c.568C>A c.1395C>A (n.1395C>A) c.1580C>A (p.Pro527His) c.2249C>A (p.Pro750His) c.1682C>A (p.Pro561His) n.468C>A n.621C>A n.568C>A n.249C>A n.310+265C>A c.1805C>A (p.Pro602His) c.2102C>A (p.Pro701His) c.2084C>A (p.Pro695His) c.1793C>A (p.Pro598His) c.1721C>A (p.Pro574His) n.2587C>A n.2526C>A n.2480C>A | |
2 | g.25240376_25240379del | CA645515174 | DNMT3A | c.565_568del c.1392_1395del (n.1392_1395del) c.1577_1580del (p.Arg526ProfsTer29) c.2246_2249del (p.Arg749ProfsTer29) c.1679_1682del (p.Arg560ProfsTer29) c.2246_2249del (p.Arg749ProfsTer?) n.465_468del n.618_621del n.565_568del n.246_249del n.310+262_310+265del c.1802_1805del (p.Arg601ProfsTer29) c.2099_2102del (p.Arg700ProfsTer29) c.2081_2084del (p.Arg694ProfsTer29) c.1790_1793del (p.Arg597ProfsTer29) c.1718_1721del (p.Arg573ProfsTer29) n.2584_2587del n.2523_2526del n.2477_2480del | gnomAD v4 COSMIC |
2 | g.25240376G>A | CA346069972 | DNMT3A | c.567C>T c.1394C>T (n.1394C>T) c.1579C>T (p.Pro527Ser) c.2248C>T (p.Pro750Ser) c.1681C>T (p.Pro561Ser) n.467C>T n.620C>T n.567C>T n.248C>T n.310+264C>T c.1804C>T (p.Pro602Ser) c.2101C>T (p.Pro701Ser) c.2083C>T (p.Pro695Ser) c.1792C>T (p.Pro598Ser) c.1720C>T (p.Pro574Ser) n.2586C>T n.2525C>T n.2479C>T | gnomAD v4 |
2 | g.25240376G>C | CA346069975 | DNMT3A | c.567C>G c.1394C>G (n.1394C>G) c.1579C>G (p.Pro527Ala) c.2248C>G (p.Pro750Ala) c.1681C>G (p.Pro561Ala) n.467C>G n.620C>G n.567C>G n.248C>G n.310+264C>G c.1804C>G (p.Pro602Ala) c.2101C>G (p.Pro701Ala) c.2083C>G (p.Pro695Ala) c.1792C>G (p.Pro598Ala) c.1720C>G (p.Pro574Ala) n.2586C>G n.2525C>G n.2479C>G | gnomAD v4 |
2 | g.25240376G>T | CA346069978 | DNMT3A | c.567C>A c.1394C>A (n.1394C>A) c.1579C>A (p.Pro527Thr) c.2248C>A (p.Pro750Thr) c.1681C>A (p.Pro561Thr) n.467C>A n.620C>A n.567C>A n.248C>A n.310+264C>A c.1804C>A (p.Pro602Thr) c.2101C>A (p.Pro701Thr) c.2083C>A (p.Pro695Thr) c.1792C>A (p.Pro598Thr) c.1720C>A (p.Pro574Thr) n.2586C>A n.2525C>A n.2479C>A | |
2 | g.25240378_25240396dup | CA2658172211 | DNMT3A | c.549_567dup c.1376_1394dup (n.1376_1394dup) c.1561_1579dup (p.Pro527GlnfsTer5) c.2230_2248dup (p.Pro750GlnfsTer5) c.1663_1681dup (p.Pro561GlnfsTer5) n.449_467dup n.602_620dup n.549_567dup n.230_248dup n.310+246_310+264dup c.1786_1804dup (p.Pro602GlnfsTer5) c.2083_2101dup (p.Pro701GlnfsTer5) c.2065_2083dup (p.Pro695GlnfsTer5) c.1774_1792dup (p.Pro598GlnfsTer5) c.1702_1720dup (p.Pro574GlnfsTer5) n.2568_2586dup n.2507_2525dup n.2461_2479dup | gnomAD v4 |
2 | g.25240377G>A | CA1555685 | DNMT3A | c.566C>T c.1393C>T (n.1393C>T) c.1578C>T (p.Arg526=) c.2247C>T (p.Arg749=) c.1680C>T (p.Arg560=) n.466C>T n.619C>T n.566C>T n.247C>T n.310+263C>T c.1803C>T (p.Arg601=) c.2100C>T (p.Arg700=) c.2082C>T (p.Arg694=) c.1791C>T (p.Arg597=) c.1719C>T (p.Arg573=) n.2585C>T n.2524C>T n.2478C>T | dbSNP ExAC |
2 | g.25240377G>C | CA425181443 | DNMT3A | c.566C>G c.1393C>G (n.1393C>G) c.1578C>G (p.Arg526=) c.2247C>G (p.Arg749=) c.1680C>G (p.Arg560=) n.466C>G n.619C>G n.566C>G n.247C>G n.310+263C>G c.1803C>G (p.Arg601=) c.2100C>G (p.Arg700=) c.2082C>G (p.Arg694=) c.1791C>G (p.Arg597=) c.1719C>G (p.Arg573=) n.2585C>G n.2524C>G n.2478C>G | |
2 | g.25240377G= | CA1239265259 | DNMT3A | c.566C= c.1393C= (n.1393C=) c.1578C= (p.Arg526=) c.2247C= (p.Arg749=) c.1680C= (p.Arg560=) n.466C= n.619C= n.566C= n.247C= n.310+263C= c.1803C= (p.Arg601=) c.2100C= (p.Arg700=) c.2082C= (p.Arg694=) c.1791C= (p.Arg597=) c.1719C= (p.Arg573=) n.2585C= n.2524C= n.2478C= | |
2 | g.25240377G>T | CA425181444 | DNMT3A | c.566C>A c.1393C>A (n.1393C>A) c.1578C>A (p.Arg526=) c.2247C>A (p.Arg749=) c.1680C>A (p.Arg560=) n.466C>A n.619C>A n.566C>A n.247C>A n.310+263C>A c.1803C>A (p.Arg601=) c.2100C>A (p.Arg700=) c.2082C>A (p.Arg694=) c.1791C>A (p.Arg597=) c.1719C>A (p.Arg573=) n.2585C>A n.2524C>A n.2478C>A | |
2 | g.25240378_25240379del | CA2573332155 | DNMT3A | c.565_566del c.1392_1393del (n.1392_1393del) c.1577_1578del (p.Arg526ProfsTer7) c.2246_2247del (p.Arg749ProfsTer7) c.1679_1680del (p.Arg560ProfsTer7) n.465_466del n.618_619del n.565_566del n.246_247del n.310+262_310+263del c.1802_1803del (p.Arg601ProfsTer7) c.2099_2100del (p.Arg700ProfsTer7) c.2081_2082del (p.Arg694ProfsTer7) c.1790_1791del (p.Arg597ProfsTer7) c.1718_1719del (p.Arg573ProfsTer7) n.2584_2585del n.2523_2524del n.2477_2478del | |
2 | g.25240377_25240389dup | CA2658172217 | DNMT3A | c.554_566dup c.1381_1393dup (n.1381_1393dup) c.1566_1578dup (p.Pro527GlyfsTer3) c.2235_2247dup (p.Pro750GlyfsTer3) c.1668_1680dup (p.Pro561GlyfsTer3) n.454_466dup n.607_619dup n.554_566dup n.235_247dup n.310+251_310+263dup c.1791_1803dup (p.Pro602GlyfsTer3) c.2088_2100dup (p.Pro701GlyfsTer3) c.2070_2082dup (p.Pro695GlyfsTer3) c.1779_1791dup (p.Pro598GlyfsTer3) c.1707_1719dup (p.Pro574GlyfsTer3) n.2573_2585dup n.2512_2524dup n.2466_2478dup | gnomAD v4 |
2 | g.25240380_25240402dup | CA2658172220 | DNMT3A | c.544_566dup c.1371_1393dup (n.1371_1393dup) c.1556_1578dup (p.Pro527GlyfsTer37) c.2225_2247dup (p.Pro750GlyfsTer37) c.1658_1680dup (p.Pro561GlyfsTer37) c.2225_2247dup (p.Pro750GlyfsTer?) n.444_466dup n.597_619dup n.544_566dup n.225_247dup n.310+241_310+263dup c.1781_1803dup (p.Pro602GlyfsTer37) c.2078_2100dup (p.Pro701GlyfsTer37) c.2060_2082dup (p.Pro695GlyfsTer37) c.1769_1791dup (p.Pro598GlyfsTer37) c.1697_1719dup (p.Pro574GlyfsTer37) n.2563_2585dup n.2502_2524dup n.2456_2478dup | gnomAD v4 |
2 | g.25240377_25240378insA | CA2576693914 | DNMT3A | c.565_566insT c.1392_1393insT (n.1392_1393insT) c.1577_1578insT (p.Phe528LeufsTer6) c.2246_2247insT (p.Phe751LeufsTer6) c.1679_1680insT (p.Phe562LeufsTer6) n.465_466insT n.618_619insT n.565_566insT n.246_247insT n.310+262_310+263insT c.1802_1803insT (p.Phe603LeufsTer6) c.2099_2100insT (p.Phe702LeufsTer6) c.2081_2082insT (p.Phe696LeufsTer6) c.1790_1791insT (p.Phe599LeufsTer6) c.1718_1719insT (p.Phe575LeufsTer6) n.2584_2585insT n.2523_2524insT n.2477_2478insT | |
2 | g.25240378del | CA425181445 | DNMT3A | c.565del c.1392del (n.1392del) c.1577del (p.Arg526ProfsTer30) c.2246del (p.Arg749ProfsTer30) c.1679del (p.Arg560ProfsTer30) c.2246del (p.Arg749ProfsTer?) n.465del n.618del n.565del n.246del n.310+262del c.1802del (p.Arg601ProfsTer30) c.2099del (p.Arg700ProfsTer30) c.2081del (p.Arg694ProfsTer30) c.1790del (p.Arg597ProfsTer30) c.1718del (p.Arg573ProfsTer30) n.2584del n.2523del n.2477del | gnomAD v3 gnomAD v4 COSMIC |
2 | g.25240378C>A | CA1555686 | DNMT3A | c.565G>T c.1392G>T (n.1392G>T) c.1577G>T (p.Arg526Leu) c.2246G>T (p.Arg749Leu) c.1679G>T (p.Arg560Leu) n.465G>T n.618G>T n.565G>T n.246G>T n.310+262G>T c.1802G>T (p.Arg601Leu) c.2099G>T (p.Arg700Leu) c.2081G>T (p.Arg694Leu) c.1790G>T (p.Arg597Leu) c.1718G>T (p.Arg573Leu) n.2584G>T n.2523G>T n.2477G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25240378C= | CA1239265264 | DNMT3A | c.565G= c.1392G= (n.1392G=) c.1577G= (p.Arg526=) c.2246G= (p.Arg749=) c.1679G= (p.Arg560=) n.465G= n.618G= n.565G= n.246G= n.310+262G= c.1802G= (p.Arg601=) c.2099G= (p.Arg700=) c.2081G= (p.Arg694=) c.1790G= (p.Arg597=) c.1718G= (p.Arg573=) n.2584G= n.2523G= n.2477G= | |
2 | g.25240378C>G | CA43698736 | DNMT3A | c.565G>C c.1392G>C (n.1392G>C) c.1577G>C (p.Arg526Pro) c.2246G>C (p.Arg749Pro) c.1679G>C (p.Arg560Pro) n.465G>C n.618G>C n.565G>C n.246G>C n.310+262G>C c.1802G>C (p.Arg601Pro) c.2099G>C (p.Arg700Pro) c.2081G>C (p.Arg694Pro) c.1790G>C (p.Arg597Pro) c.1718G>C (p.Arg573Pro) n.2584G>C n.2523G>C n.2477G>C | dbSNP gnomAD v4 |
2 | g.25240378C>T | CA1555687 | DNMT3A | c.565G>A c.1392G>A (n.1392G>A) c.1577G>A (p.Arg526His) c.2246G>A (p.Arg749His) c.1679G>A (p.Arg560His) n.465G>A n.618G>A n.565G>A n.246G>A n.310+262G>A c.1802G>A (p.Arg601His) c.2099G>A (p.Arg700His) c.2081G>A (p.Arg694His) c.1790G>A (p.Arg597His) c.1718G>A (p.Arg573His) n.2584G>A n.2523G>A n.2477G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25240378dup | CA2658172227 | DNMT3A | c.565dup c.1392dup (n.1392dup) c.1577dup (p.Phe528LeufsTer6) c.2246dup (p.Phe751LeufsTer6) c.1679dup (p.Phe562LeufsTer6) n.465dup n.618dup n.565dup n.246dup n.310+262dup c.1802dup (p.Phe603LeufsTer6) c.2099dup (p.Phe702LeufsTer6) c.2081dup (p.Phe696LeufsTer6) c.1790dup (p.Phe599LeufsTer6) c.1718dup (p.Phe575LeufsTer6) n.2584dup n.2523dup n.2477dup | gnomAD v4 |
2 | g.25240379_25240380insCGCCCCG | CA531369118 | DNMT3A | c.565_566insGGGCGCG c.1392_1393insGGGCGCG (n.1392_1393insGGGCGCG) c.1577_1578insGGGCGCG (p.Pro527GlyfsTer9) c.2246_2247insGGGCGCG (p.Pro750GlyfsTer9) c.1679_1680insGGGCGCG (p.Pro561GlyfsTer9) n.465_466insGGGCGCG n.618_619insGGGCGCG n.565_566insGGGCGCG n.246_247insGGGCGCG n.310+262_310+263insGGGCGCG c.1802_1803insGGGCGCG (p.Pro602GlyfsTer9) c.2099_2100insGGGCGCG (p.Pro701GlyfsTer9) c.2081_2082insGGGCGCG (p.Pro695GlyfsTer9) c.1790_1791insGGGCGCG (p.Pro598GlyfsTer9) c.1718_1719insGGGCGCG (p.Pro574GlyfsTer9) n.2584_2585insGGGCGCG n.2523_2524insGGGCGCG n.2477_2478insGGGCGCG | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25240379_25240382del | CA2576693913 | DNMT3A | c.562_565del c.1389_1392del (n.1389_1392del) c.1574_1577del (p.Asp525AlafsTer30) c.2243_2246del (p.Asp748AlafsTer30) c.1676_1679del (p.Asp559AlafsTer30) c.2243_2246del (p.Asp748AlafsTer?) n.462_465del n.615_618del n.562_565del n.243_246del n.310+259_310+262del c.1799_1802del (p.Asp600AlafsTer30) c.2096_2099del (p.Asp699AlafsTer30) c.2078_2081del (p.Asp693AlafsTer30) c.1787_1790del (p.Asp596AlafsTer30) c.1715_1718del (p.Asp572AlafsTer30) n.2581_2584del n.2520_2523del n.2474_2477del | gnomAD v4 |
2 | g.25240399_25240400insTCTGGCTCGATCATCTCCCTCCTTGGGCC | CA2658172226 | DNMT3A | c.565_566insAGCCAGAGGCCCAAGGAGGGAGATGATCG c.1392_1393insAGCCAGAGGCCCAAGGAGGGAGATGATCG (n.1392_1393insAGCCAGAGGCCCAAGGAGGGAGATGATCG) c.1577_1578insAGCCAGAGGCCCAAGGAGGGAGATGATCG (p.Pro527AlafsTer39) c.2246_2247insAGCCAGAGGCCCAAGGAGGGAGATGATCG (p.Pro750AlafsTer39) c.1679_1680insAGCCAGAGGCCCAAGGAGGGAGATGATCG (p.Pro561AlafsTer39) c.2246_2247insAGCCAGAGGCCCAAGGAGGGAGATGATCG (p.Pro750AlafsTer?) n.465_466insAGCCAGAGGCCCAAGGAGGGAGATGATCG n.618_619insAGCCAGAGGCCCAAGGAGGGAGATGATCG n.565_566insAGCCAGAGGCCCAAGGAGGGAGATGATCG n.246_247insAGCCAGAGGCCCAAGGAGGGAGATGATCG n.310+262_310+263insAGCCAGAGGCCCAAGGAGGGAGATGATCG c.1802_1803insAGCCAGAGGCCCAAGGAGGGAGATGATCG (p.Pro602AlafsTer39) c.2099_2100insAGCCAGAGGCCCAAGGAGGGAGATGATCG (p.Pro701AlafsTer39) c.2081_2082insAGCCAGAGGCCCAAGGAGGGAGATGATCG (p.Pro695AlafsTer39) c.1790_1791insAGCCAGAGGCCCAAGGAGGGAGATGATCG (p.Pro598AlafsTer39) c.1718_1719insAGCCAGAGGCCCAAGGAGGGAGATGATCG (p.Pro574AlafsTer39) n.2584_2585insAGCCAGAGGCCCAAGGAGGGAGATGATCG n.2523_2524insAGCCAGAGGCCCAAGGAGGGAGATGATCG n.2477_2478insAGCCAGAGGCCCAAGGAGGGAGATGATCG | gnomAD v4 |
2 | g.25240379del | CA2576693916 | DNMT3A | c.564del c.1391del (n.1391del) c.1576del (p.Arg526AlafsTer30) c.2245del (p.Arg749AlafsTer30) c.1678del (p.Arg560AlafsTer30) c.2245del (p.Arg749AlafsTer?) n.464del n.617del n.564del n.245del n.310+261del c.1801del (p.Arg601AlafsTer30) c.2098del (p.Arg700AlafsTer30) c.2080del (p.Arg694AlafsTer30) c.1789del (p.Arg597AlafsTer30) c.1717del (p.Arg573AlafsTer30) n.2583del n.2522del n.2476del | gnomAD v4 |
2 | g.25240379G>A | CA1555688 | DNMT3A | c.564C>T c.1391C>T (n.1391C>T) c.1576C>T (p.Arg526Cys) c.2245C>T (p.Arg749Cys) c.1678C>T (p.Arg560Cys) n.464C>T n.617C>T n.564C>T n.245C>T n.310+261C>T c.1801C>T (p.Arg601Cys) c.2098C>T (p.Arg700Cys) c.2080C>T (p.Arg694Cys) c.1789C>T (p.Arg597Cys) c.1717C>T (p.Arg573Cys) n.2583C>T n.2522C>T n.2476C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.25240379G>C | CA1555689 | DNMT3A | c.564C>G c.1391C>G (n.1391C>G) c.1576C>G (p.Arg526Gly) c.2245C>G (p.Arg749Gly) c.1678C>G (p.Arg560Gly) n.464C>G n.617C>G n.564C>G n.245C>G n.310+261C>G c.1801C>G (p.Arg601Gly) c.2098C>G (p.Arg700Gly) c.2080C>G (p.Arg694Gly) c.1789C>G (p.Arg597Gly) c.1717C>G (p.Arg573Gly) n.2583C>G n.2522C>G n.2476C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25240379G= | CA1239265265 | DNMT3A | c.564C= c.1391C= (n.1391C=) c.1576C= (p.Arg526=) c.2245C= (p.Arg749=) c.1678C= (p.Arg560=) n.464C= n.617C= n.564C= n.245C= n.310+261C= c.1801C= (p.Arg601=) c.2098C= (p.Arg700=) c.2080C= (p.Arg694=) c.1789C= (p.Arg597=) c.1717C= (p.Arg573=) n.2583C= n.2522C= n.2476C= | |
2 | g.25240379G>T | CA346069992 | DNMT3A | c.564C>A c.1391C>A (n.1391C>A) c.1576C>A (p.Arg526Ser) c.2245C>A (p.Arg749Ser) c.1678C>A (p.Arg560Ser) n.464C>A n.617C>A n.564C>A n.245C>A n.310+261C>A c.1801C>A (p.Arg601Ser) c.2098C>A (p.Arg700Ser) c.2080C>A (p.Arg694Ser) c.1789C>A (p.Arg597Ser) c.1717C>A (p.Arg573Ser) n.2583C>A n.2522C>A n.2476C>A | ClinVar gnomAD v4 |
2 | g.25240379_25240380dup | CA2658172228 | DNMT3A | c.563_564dup c.1390_1391dup (n.1390_1391dup) c.1575_1576dup (p.Arg526LeufsTer31) c.2244_2245dup (p.Arg749LeufsTer31) c.1677_1678dup (p.Arg560LeufsTer31) c.2244_2245dup (p.Arg749LeufsTer?) n.463_464dup n.616_617dup n.563_564dup n.244_245dup n.310+260_310+261dup c.1800_1801dup (p.Arg601LeufsTer31) c.2097_2098dup (p.Arg700LeufsTer31) c.2079_2080dup (p.Arg694LeufsTer31) c.1788_1789dup (p.Arg597LeufsTer31) c.1716_1717dup (p.Arg573LeufsTer31) n.2582_2583dup n.2521_2522dup n.2475_2476dup | gnomAD v4 |
2 | g.25240379_25240383del | CA2658172230 | DNMT3A | c.560_564del c.1387_1391del (n.1387_1391del) c.1572_1576del (p.Asp524GlufsTer8) c.2241_2245del (p.Asp747GlufsTer8) c.1674_1678del (p.Asp558GlufsTer8) n.460_464del n.613_617del n.560_564del n.241_245del n.310+257_310+261del c.1797_1801del (p.Asp599GlufsTer8) c.2094_2098del (p.Asp698GlufsTer8) c.2076_2080del (p.Asp692GlufsTer8) c.1785_1789del (p.Asp595GlufsTer8) c.1713_1717del (p.Asp571GlufsTer8) n.2579_2583del n.2518_2522del n.2472_2476del | gnomAD v4 |
2 | g.25240379_25240431dup | CA2658172229 | DNMT3A | c.512_564dup c.1339_1391dup (n.1339_1391dup) c.1524_1576dup (p.Arg526ProfsTer48) c.2193_2245dup (p.Arg749ProfsTer48) c.1626_1678dup (p.Arg560ProfsTer48) c.2193_2245dup (p.Arg749ProfsTer?) n.412_464dup n.565_617dup n.512_564dup n.193_245dup n.310+209_310+261dup c.1749_1801dup (p.Arg601ProfsTer48) c.2046_2098dup (p.Arg700ProfsTer48) c.2028_2080dup (p.Arg694ProfsTer48) c.1737_1789dup (p.Arg597ProfsTer48) c.1665_1717dup (p.Arg573ProfsTer48) n.2531_2583dup n.2470_2522dup n.2424_2476dup | gnomAD v4 |
2 | g.25240380del | CA2658172235 | DNMT3A | c.563del c.1390del (n.1390del) c.1575del (p.Arg526AlafsTer?) c.2244del (p.Arg749AlafsTer?) c.1677del (p.Arg560AlafsTer?) n.463del n.616del n.563del n.244del n.310+260del c.1800del (p.Arg601AlafsTer?) c.2097del (p.Arg700AlafsTer?) c.2079del (p.Arg694AlafsTer?) c.1788del (p.Arg597AlafsTer?) c.1716del (p.Arg573AlafsTer?) n.2582del n.2521del n.2475del | gnomAD v4 |
2 | g.25240380A>C | CA346069996 | DNMT3A | c.563T>G c.1390T>G (n.1390T>G) c.1575T>G (p.Asp525Glu) c.2244T>G (p.Asp748Glu) c.1677T>G (p.Asp559Glu) n.463T>G n.616T>G n.563T>G n.244T>G n.310+260T>G c.1800T>G (p.Asp600Glu) c.2097T>G (p.Asp699Glu) c.2079T>G (p.Asp693Glu) c.1788T>G (p.Asp596Glu) c.1716T>G (p.Asp572Glu) n.2582T>G n.2521T>G n.2475T>G | |
2 | g.25240380A>G | CA425181446 | DNMT3A | c.563T>C c.1390T>C (n.1390T>C) c.1575T>C (p.Asp525=) c.2244T>C (p.Asp748=) c.1677T>C (p.Asp559=) n.463T>C n.616T>C n.563T>C n.244T>C n.310+260T>C c.1800T>C (p.Asp600=) c.2097T>C (p.Asp699=) c.2079T>C (p.Asp693=) c.1788T>C (p.Asp596=) c.1716T>C (p.Asp572=) n.2582T>C n.2521T>C n.2475T>C | gnomAD v3 gnomAD v4 |
2 | g.25240380A>T | CA346069998 | DNMT3A | c.563T>A c.1390T>A (n.1390T>A) c.1575T>A (p.Asp525Glu) c.2244T>A (p.Asp748Glu) c.1677T>A (p.Asp559Glu) n.463T>A n.616T>A n.563T>A n.244T>A n.310+260T>A c.1800T>A (p.Asp600Glu) c.2097T>A (p.Asp699Glu) c.2079T>A (p.Asp693Glu) c.1788T>A (p.Asp596Glu) c.1716T>A (p.Asp572Glu) n.2582T>A n.2521T>A n.2475T>A | |
2 | g.25240380_25240381insAA | CA2658172236 | DNMT3A | c.563_564insTT c.1390_1391insTT (n.1390_1391insTT) c.1575_1576insTT (p.Arg526PhefsTer?) c.2244_2245insTT (p.Arg749PhefsTer?) c.1677_1678insTT (p.Arg560PhefsTer?) n.463_464insTT n.616_617insTT n.563_564insTT n.244_245insTT n.310+260_310+261insTT c.1800_1801insTT (p.Arg601PhefsTer?) c.2097_2098insTT (p.Arg700PhefsTer?) c.2079_2080insTT (p.Arg694PhefsTer?) c.1788_1789insTT (p.Arg597PhefsTer?) c.1716_1717insTT (p.Arg573PhefsTer?) n.2582_2583insTT n.2521_2522insTT n.2475_2476insTT | gnomAD v4 |
2 | g.25240381T>A | CA346070000 | DNMT3A | c.562A>T c.1389A>T (n.1389A>T) c.1574A>T (p.Asp525Val) c.2243A>T (p.Asp748Val) c.1676A>T (p.Asp559Val) n.462A>T n.615A>T n.562A>T n.243A>T n.310+259A>T c.1799A>T (p.Asp600Val) c.2096A>T (p.Asp699Val) c.2078A>T (p.Asp693Val) c.1787A>T (p.Asp596Val) c.1715A>T (p.Asp572Val) n.2581A>T n.2520A>T n.2474A>T | |
2 | g.25240381T>C | CA346070003 | DNMT3A | c.562A>G c.1389A>G (n.1389A>G) c.1574A>G (p.Asp525Gly) c.2243A>G (p.Asp748Gly) c.1676A>G (p.Asp559Gly) n.462A>G n.615A>G n.562A>G n.243A>G n.310+259A>G c.1799A>G (p.Asp600Gly) c.2096A>G (p.Asp699Gly) c.2078A>G (p.Asp693Gly) c.1787A>G (p.Asp596Gly) c.1715A>G (p.Asp572Gly) n.2581A>G n.2520A>G n.2474A>G | gnomAD v4 |
2 | g.25240381T>G | CA346070006 | DNMT3A | c.562A>C c.1389A>C (n.1389A>C) c.1574A>C (p.Asp525Ala) c.2243A>C (p.Asp748Ala) c.1676A>C (p.Asp559Ala) n.462A>C n.615A>C n.562A>C n.243A>C n.310+259A>C c.1799A>C (p.Asp600Ala) c.2096A>C (p.Asp699Ala) c.2078A>C (p.Asp693Ala) c.1787A>C (p.Asp596Ala) c.1715A>C (p.Asp572Ala) n.2581A>C n.2520A>C n.2474A>C | dbSNP |
2 | g.25240382C>A | CA346070011 | DNMT3A | c.561G>T c.1388G>T (n.1388G>T) c.1573G>T (p.Asp525Tyr) c.2242G>T (p.Asp748Tyr) c.1675G>T (p.Asp559Tyr) n.461G>T n.614G>T n.561G>T n.242G>T n.310+258G>T c.1798G>T (p.Asp600Tyr) c.2095G>T (p.Asp699Tyr) c.2077G>T (p.Asp693Tyr) c.1786G>T (p.Asp596Tyr) c.1714G>T (p.Asp572Tyr) n.2580G>T n.2519G>T n.2473G>T | |
2 | g.25240382C>G | CA346070013 | DNMT3A | c.561G>C c.1388G>C (n.1388G>C) c.1573G>C (p.Asp525His) c.2242G>C (p.Asp748His) c.1675G>C (p.Asp559His) n.461G>C n.614G>C n.561G>C n.242G>C n.310+258G>C c.1798G>C (p.Asp600His) c.2095G>C (p.Asp699His) c.2077G>C (p.Asp693His) c.1786G>C (p.Asp596His) c.1714G>C (p.Asp572His) n.2580G>C n.2519G>C n.2473G>C | |
2 | g.25240382C>T | CA346070015 | DNMT3A | c.561G>A c.1388G>A (n.1388G>A) c.1573G>A (p.Asp525Asn) c.2242G>A (p.Asp748Asn) c.1675G>A (p.Asp559Asn) n.461G>A n.614G>A n.561G>A n.242G>A n.310+258G>A c.1798G>A (p.Asp600Asn) c.2095G>A (p.Asp699Asn) c.2077G>A (p.Asp693Asn) c.1786G>A (p.Asp596Asn) c.1714G>A (p.Asp572Asn) n.2580G>A n.2519G>A n.2473G>A | dbSNP COSMIC |
2 | g.25240382dup | CA2658172237 | DNMT3A | c.561dup c.1388dup (n.1388dup) c.1573dup (p.Asp525GlyfsTer9) c.2242dup (p.Asp748GlyfsTer9) c.1675dup (p.Asp559GlyfsTer9) n.461dup n.614dup n.561dup n.242dup n.310+258dup c.1798dup (p.Asp600GlyfsTer9) c.2095dup (p.Asp699GlyfsTer9) c.2077dup (p.Asp693GlyfsTer9) c.1786dup (p.Asp596GlyfsTer9) c.1714dup (p.Asp572GlyfsTer9) n.2580dup n.2519dup n.2473dup | gnomAD v4 |
2 | g.25240383_25240401dup | CA2658172238 | DNMT3A | c.543_561dup c.1370_1388dup (n.1370_1388dup) c.1555_1573dup (p.Asp525AlafsTer7) c.2224_2242dup (p.Asp748AlafsTer7) c.1657_1675dup (p.Asp559AlafsTer7) n.443_461dup n.596_614dup n.543_561dup n.224_242dup n.310+240_310+258dup c.1780_1798dup (p.Asp600AlafsTer7) c.2077_2095dup (p.Asp699AlafsTer7) c.2059_2077dup (p.Asp693AlafsTer7) c.1768_1786dup (p.Asp596AlafsTer7) c.1696_1714dup (p.Asp572AlafsTer7) n.2562_2580dup n.2501_2519dup n.2455_2473dup | gnomAD v4 |
2 | g.25240383A= | CA1239265267 | DNMT3A | c.560T= c.1387T= (n.1387T=) c.1572T= (p.Asp524=) c.2241T= (p.Asp747=) c.1674T= (p.Asp558=) n.460T= n.613T= n.560T= n.241T= n.310+257T= c.1797T= (p.Asp599=) c.2094T= (p.Asp698=) c.2076T= (p.Asp692=) c.1785T= (p.Asp595=) c.1713T= (p.Asp571=) n.2579T= n.2518T= n.2472T= | |
2 | g.25240383A>C | CA346070023 | DNMT3A | c.560T>G c.1387T>G (n.1387T>G) c.1572T>G (p.Asp524Glu) c.2241T>G (p.Asp747Glu) c.1674T>G (p.Asp558Glu) n.460T>G n.613T>G n.560T>G n.241T>G n.310+257T>G c.1797T>G (p.Asp599Glu) c.2094T>G (p.Asp698Glu) c.2076T>G (p.Asp692Glu) c.1785T>G (p.Asp595Glu) c.1713T>G (p.Asp571Glu) n.2579T>G n.2518T>G n.2472T>G | |
2 | g.25240383A>G | CA425181447 | DNMT3A | c.560T>C c.1387T>C (n.1387T>C) c.1572T>C (p.Asp524=) c.2241T>C (p.Asp747=) c.1674T>C (p.Asp558=) n.460T>C n.613T>C n.560T>C n.241T>C n.310+257T>C c.1797T>C (p.Asp599=) c.2094T>C (p.Asp698=) c.2076T>C (p.Asp692=) c.1785T>C (p.Asp595=) c.1713T>C (p.Asp571=) n.2579T>C n.2518T>C n.2472T>C | |
2 | g.25240383A>T | CA346070019 | DNMT3A | c.560T>A c.1387T>A (n.1387T>A) c.1572T>A (p.Asp524Glu) c.2241T>A (p.Asp747Glu) c.1674T>A (p.Asp558Glu) n.460T>A n.613T>A n.560T>A n.241T>A n.310+257T>A c.1797T>A (p.Asp599Glu) c.2094T>A (p.Asp698Glu) c.2076T>A (p.Asp692Glu) c.1785T>A (p.Asp595Glu) c.1713T>A (p.Asp571Glu) n.2579T>A n.2518T>A n.2472T>A | dbSNP |
2 | g.25240384del | CA2658172240 | DNMT3A | c.559del c.1386del (n.1386del) c.1571del (p.Asp524ValfsTer?) c.2240del (p.Asp747ValfsTer?) c.1673del (p.Asp558ValfsTer?) n.459del n.612del n.559del n.240del n.310+256del c.1796del (p.Asp599ValfsTer?) c.2093del (p.Asp698ValfsTer?) c.2075del (p.Asp692ValfsTer?) c.1784del (p.Asp595ValfsTer?) c.1712del (p.Asp571ValfsTer?) n.2578del n.2517del n.2471del | gnomAD v4 |
2 | g.25240384T>A | CA346070026 | DNMT3A | c.559A>T c.1386A>T (n.1386A>T) c.1571A>T (p.Asp524Val) c.2240A>T (p.Asp747Val) c.1673A>T (p.Asp558Val) n.459A>T n.612A>T n.559A>T n.240A>T n.310+256A>T c.1796A>T (p.Asp599Val) c.2093A>T (p.Asp698Val) c.2075A>T (p.Asp692Val) c.1784A>T (p.Asp595Val) c.1712A>T (p.Asp571Val) n.2578A>T n.2517A>T n.2471A>T | dbSNP |
2 | g.25240384T>C | CA346070028 | DNMT3A | c.559A>G c.1386A>G (n.1386A>G) c.1571A>G (p.Asp524Gly) c.2240A>G (p.Asp747Gly) c.1673A>G (p.Asp558Gly) n.459A>G n.612A>G n.559A>G n.240A>G n.310+256A>G c.1796A>G (p.Asp599Gly) c.2093A>G (p.Asp698Gly) c.2075A>G (p.Asp692Gly) c.1784A>G (p.Asp595Gly) c.1712A>G (p.Asp571Gly) n.2578A>G n.2517A>G n.2471A>G | gnomAD v4 |
2 | g.25240384T>G | CA346070032 | DNMT3A | c.559A>C c.1386A>C (n.1386A>C) c.1571A>C (p.Asp524Ala) c.2240A>C (p.Asp747Ala) c.1673A>C (p.Asp558Ala) n.459A>C n.612A>C n.559A>C n.240A>C n.310+256A>C c.1796A>C (p.Asp599Ala) c.2093A>C (p.Asp698Ala) c.2075A>C (p.Asp692Ala) c.1784A>C (p.Asp595Ala) c.1712A>C (p.Asp571Ala) n.2578A>C n.2517A>C n.2471A>C | |
2 | g.25240384T= | CA1239265269 | DNMT3A | c.559A= c.1386A= (n.1386A=) c.1571A= (p.Asp524=) c.2240A= (p.Asp747=) c.1673A= (p.Asp558=) n.459A= n.612A= n.559A= n.240A= n.310+256A= c.1796A= (p.Asp599=) c.2093A= (p.Asp698=) c.2075A= (p.Asp692=) c.1784A= (p.Asp595=) c.1712A= (p.Asp571=) n.2578A= n.2517A= n.2471A= | |
2 | g.25240384_25240388del | CA2658172241 | DNMT3A | c.555_559del c.1382_1386del (n.1382_1386del) c.1567_1571del (p.Gly523Ter) c.2236_2240del (p.Gly746Ter) c.1669_1673del (p.Gly557Ter) n.455_459del n.608_612del n.555_559del n.236_240del n.310+252_310+256del c.1792_1796del (p.Gly598Ter) c.2089_2093del (p.Gly697Ter) c.2071_2075del (p.Gly691Ter) c.1780_1784del (p.Gly594Ter) c.1708_1712del (p.Gly570Ter) n.2574_2578del n.2513_2517del n.2467_2471del | gnomAD v4 |
2 | g.25240385C>A | CA346070036 | DNMT3A | c.558G>T c.1385G>T (n.1385G>T) c.1570G>T (p.Asp524Tyr) c.2239G>T (p.Asp747Tyr) c.1672G>T (p.Asp558Tyr) n.458G>T n.611G>T n.558G>T n.239G>T n.310+255G>T c.1795G>T (p.Asp599Tyr) c.2092G>T (p.Asp698Tyr) c.2074G>T (p.Asp692Tyr) c.1783G>T (p.Asp595Tyr) c.1711G>T (p.Asp571Tyr) n.2577G>T n.2516G>T n.2470G>T | |
2 | g.25240385C>G | CA346070038 | DNMT3A | c.558G>C c.1385G>C (n.1385G>C) c.1570G>C (p.Asp524His) c.2239G>C (p.Asp747His) c.1672G>C (p.Asp558His) n.458G>C n.611G>C n.558G>C n.239G>C n.310+255G>C c.1795G>C (p.Asp599His) c.2092G>C (p.Asp698His) c.2074G>C (p.Asp692His) c.1783G>C (p.Asp595His) c.1711G>C (p.Asp571His) n.2577G>C n.2516G>C n.2470G>C | dbSNP |
2 | g.25240385C>T | CA346070041 | DNMT3A | c.558G>A c.1385G>A (n.1385G>A) c.1570G>A (p.Asp524Asn) c.2239G>A (p.Asp747Asn) c.1672G>A (p.Asp558Asn) n.458G>A n.611G>A n.558G>A n.239G>A n.310+255G>A c.1795G>A (p.Asp599Asn) c.2092G>A (p.Asp698Asn) c.2074G>A (p.Asp692Asn) c.1783G>A (p.Asp595Asn) c.1711G>A (p.Asp571Asn) n.2577G>A n.2516G>A n.2470G>A | |
2 | g.25240386_25240399dup | CA531369119 | DNMT3A | c.545_558dup c.1372_1385dup (n.1372_1385dup) c.1557_1570dup (p.Asp524GlyfsTer?) c.2226_2239dup (p.Asp747GlyfsTer?) c.1659_1672dup (p.Asp558GlyfsTer?) n.445_458dup n.598_611dup n.545_558dup n.226_239dup n.310+242_310+255dup c.1782_1795dup (p.Asp599GlyfsTer?) c.2079_2092dup (p.Asp698GlyfsTer?) c.2061_2074dup (p.Asp692GlyfsTer?) c.1770_1783dup (p.Asp595GlyfsTer?) c.1698_1711dup (p.Asp571GlyfsTer?) n.2564_2577dup n.2503_2516dup n.2457_2470dup | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25240386T>A | CA425181448 | DNMT3A | c.557A>T c.1384A>T (n.1384A>T) c.1569A>T (p.Gly523=) c.2238A>T (p.Gly746=) c.1671A>T (p.Gly557=) n.457A>T n.610A>T n.557A>T n.238A>T n.310+254A>T c.1794A>T (p.Gly598=) c.2091A>T (p.Gly697=) c.2073A>T (p.Gly691=) c.1782A>T (p.Gly594=) c.1710A>T (p.Gly570=) n.2576A>T n.2515A>T n.2469A>T | |
2 | g.25240386T>C | CA425181450 | DNMT3A | c.557A>G c.1384A>G (n.1384A>G) c.1569A>G (p.Gly523=) c.2238A>G (p.Gly746=) c.1671A>G (p.Gly557=) n.457A>G n.610A>G n.557A>G n.238A>G n.310+254A>G c.1794A>G (p.Gly598=) c.2091A>G (p.Gly697=) c.2073A>G (p.Gly691=) c.1782A>G (p.Gly594=) c.1710A>G (p.Gly570=) n.2576A>G n.2515A>G n.2469A>G | |
2 | g.25240386T>G | CA425181449 | DNMT3A | c.557A>C c.1384A>C (n.1384A>C) c.1569A>C (p.Gly523=) c.2238A>C (p.Gly746=) c.1671A>C (p.Gly557=) n.457A>C n.610A>C n.557A>C n.238A>C n.310+254A>C c.1794A>C (p.Gly598=) c.2091A>C (p.Gly697=) c.2073A>C (p.Gly691=) c.1782A>C (p.Gly594=) c.1710A>C (p.Gly570=) n.2576A>C n.2515A>C n.2469A>C | |
2 | g.25240386_25240387insAT | CA2658172244 | DNMT3A | c.557_558insTA c.1384_1385insTA (n.1384_1385insTA) c.1569_1570insTA (p.Asp524Ter) c.2238_2239insTA (p.Asp747Ter) c.1671_1672insTA (p.Asp558Ter) n.457_458insTA n.610_611insTA n.557_558insTA n.238_239insTA n.310+254_310+255insTA c.1794_1795insTA (p.Asp599Ter) c.2091_2092insTA (p.Asp698Ter) c.2073_2074insTA (p.Asp692Ter) c.1782_1783insTA (p.Asp595Ter) c.1710_1711insTA (p.Asp571Ter) n.2576_2577insTA n.2515_2516insTA n.2469_2470insTA | gnomAD v4 |
2 | g.25240386_25240387insTTGG | CA2658172248 | DNMT3A | c.556_557insCCAA c.1383_1384insCCAA (n.1383_1384insCCAA) c.1568_1569insCCAA (p.Asp524GlnfsTer3) c.2237_2238insCCAA (p.Asp747GlnfsTer3) c.1670_1671insCCAA (p.Asp558GlnfsTer3) n.456_457insCCAA n.609_610insCCAA n.556_557insCCAA n.237_238insCCAA n.310+253_310+254insCCAA c.1793_1794insCCAA (p.Asp599GlnfsTer3) c.2090_2091insCCAA (p.Asp698GlnfsTer3) c.2072_2073insCCAA (p.Asp692GlnfsTer3) c.1781_1782insCCAA (p.Asp595GlnfsTer3) c.1709_1710insCCAA (p.Asp571GlnfsTer3) n.2575_2576insCCAA n.2514_2515insCCAA n.2468_2469insCCAA | gnomAD v4 |
2 | g.25240387C>A | CA346070049 | DNMT3A | c.556G>T c.1383G>T (n.1383G>T) c.1568G>T (p.Gly523Val) c.2237G>T (p.Gly746Val) c.1670G>T (p.Gly557Val) n.456G>T n.609G>T n.556G>T n.237G>T n.310+253G>T c.1793G>T (p.Gly598Val) c.2090G>T (p.Gly697Val) c.2072G>T (p.Gly691Val) c.1781G>T (p.Gly594Val) c.1709G>T (p.Gly570Val) n.2575G>T n.2514G>T n.2468G>T | |
2 | g.25240387C>G | CA346070043 | DNMT3A | c.556G>C c.1383G>C (n.1383G>C) c.1568G>C (p.Gly523Ala) c.2237G>C (p.Gly746Ala) c.1670G>C (p.Gly557Ala) n.456G>C n.609G>C n.556G>C n.237G>C n.310+253G>C c.1793G>C (p.Gly598Ala) c.2090G>C (p.Gly697Ala) c.2072G>C (p.Gly691Ala) c.1781G>C (p.Gly594Ala) c.1709G>C (p.Gly570Ala) n.2575G>C n.2514G>C n.2468G>C | gnomAD v4 |
2 | g.25240387C>T | CA346070046 | DNMT3A | c.556G>A c.1383G>A (n.1383G>A) c.1568G>A (p.Gly523Glu) c.2237G>A (p.Gly746Glu) c.1670G>A (p.Gly557Glu) n.456G>A n.609G>A n.556G>A n.237G>A n.310+253G>A c.1793G>A (p.Gly598Glu) c.2090G>A (p.Gly697Glu) c.2072G>A (p.Gly691Glu) c.1781G>A (p.Gly594Glu) c.1709G>A (p.Gly570Glu) n.2575G>A n.2514G>A n.2468G>A | |
2 | g.25240389del | CA2699054546 | DNMT3A | c.556del c.1383del (n.1383del) c.1568del (p.Gly523GlufsTer?) c.2237del (p.Gly746GlufsTer?) c.1670del (p.Gly557GlufsTer?) n.456del n.609del n.556del n.237del n.310+253del c.1793del (p.Gly598GlufsTer?) c.2090del (p.Gly697GlufsTer?) c.2072del (p.Gly691GlufsTer?) c.1781del (p.Gly594GlufsTer?) c.1709del (p.Gly570GlufsTer?) n.2575del n.2514del n.2468del | dbSNP |
2 | g.25240388_25240392del | CA2699054553 | DNMT3A | c.552_556del c.1379_1383del (n.1379_1383del) c.1564_1568del (p.Glu522ArgfsTer2) c.2233_2237del (p.Glu745ArgfsTer2) c.1666_1670del (p.Glu556ArgfsTer2) n.452_456del n.605_609del n.552_556del n.233_237del n.310+249_310+253del c.1789_1793del (p.Glu597ArgfsTer2) c.2086_2090del (p.Glu696ArgfsTer2) c.2068_2072del (p.Glu690ArgfsTer2) c.1777_1781del (p.Glu593ArgfsTer2) c.1705_1709del (p.Glu569ArgfsTer2) n.2571_2575del n.2510_2514del n.2464_2468del | dbSNP |
2 | g.25240388C>A | CA346070052 | DNMT3A | c.555G>T c.1382G>T (n.1382G>T) c.1567G>T (p.Gly523Ter) c.2236G>T (p.Gly746Ter) c.1669G>T (p.Gly557Ter) n.455G>T n.608G>T n.555G>T n.236G>T n.310+252G>T c.1792G>T (p.Gly598Ter) c.2089G>T (p.Gly697Ter) c.2071G>T (p.Gly691Ter) c.1780G>T (p.Gly594Ter) c.1708G>T (p.Gly570Ter) n.2574G>T n.2513G>T n.2467G>T | |
2 | g.25240388C= | CA1239265273 | DNMT3A | c.555G= c.1382G= (n.1382G=) c.1567G= (p.Gly523=) c.2236G= (p.Gly746=) c.1669G= (p.Gly557=) n.455G= n.608G= n.555G= n.236G= n.310+252G= c.1792G= (p.Gly598=) c.2089G= (p.Gly697=) c.2071G= (p.Gly691=) c.1780G= (p.Gly594=) c.1708G= (p.Gly570=) n.2574G= n.2513G= n.2467G= | |
2 | g.25240388C>G | CA346070055 | DNMT3A | c.555G>C c.1382G>C (n.1382G>C) c.1567G>C (p.Gly523Arg) c.2236G>C (p.Gly746Arg) c.1669G>C (p.Gly557Arg) n.455G>C n.608G>C n.555G>C n.236G>C n.310+252G>C c.1792G>C (p.Gly598Arg) c.2089G>C (p.Gly697Arg) c.2071G>C (p.Gly691Arg) c.1780G>C (p.Gly594Arg) c.1708G>C (p.Gly570Arg) n.2574G>C n.2513G>C n.2467G>C | |
2 | g.25240388C>T | CA1555690 | DNMT3A | c.555G>A c.1382G>A (n.1382G>A) c.1567G>A (p.Gly523Arg) c.2236G>A (p.Gly746Arg) c.1669G>A (p.Gly557Arg) n.455G>A n.608G>A n.555G>A n.236G>A n.310+252G>A c.1792G>A (p.Gly598Arg) c.2089G>A (p.Gly697Arg) c.2071G>A (p.Gly691Arg) c.1780G>A (p.Gly594Arg) c.1708G>A (p.Gly570Arg) n.2574G>A n.2513G>A n.2467G>A | dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.25240389C>A | CA346070060 | DNMT3A | c.554G>T c.1381G>T (n.1381G>T) c.1566G>T (p.Glu522Asp) c.2235G>T (p.Glu745Asp) c.1668G>T (p.Glu556Asp) n.454G>T n.607G>T n.554G>T n.235G>T n.310+251G>T c.1791G>T (p.Glu597Asp) c.2088G>T (p.Glu696Asp) c.2070G>T (p.Glu690Asp) c.1779G>T (p.Glu593Asp) c.1707G>T (p.Glu569Asp) n.2573G>T n.2512G>T n.2466G>T | dbSNP gnomAD v4 |
2 | g.25240389C= | CA1239265275 | DNMT3A | c.554G= c.1381G= (n.1381G=) c.1566G= (p.Glu522=) c.2235G= (p.Glu745=) c.1668G= (p.Glu556=) n.454G= n.607G= n.554G= n.235G= n.310+251G= c.1791G= (p.Glu597=) c.2088G= (p.Glu696=) c.2070G= (p.Glu690=) c.1779G= (p.Glu593=) c.1707G= (p.Glu569=) n.2573G= n.2512G= n.2466G= | |
2 | g.25240389C>G | CA346070063 | DNMT3A | c.554G>C c.1381G>C (n.1381G>C) c.1566G>C (p.Glu522Asp) c.2235G>C (p.Glu745Asp) c.1668G>C (p.Glu556Asp) n.454G>C n.607G>C n.554G>C n.235G>C n.310+251G>C c.1791G>C (p.Glu597Asp) c.2088G>C (p.Glu696Asp) c.2070G>C (p.Glu690Asp) c.1779G>C (p.Glu593Asp) c.1707G>C (p.Glu569Asp) n.2573G>C n.2512G>C n.2466G>C | |
2 | g.25240389C>T | CA425181451 | DNMT3A | c.554G>A c.1381G>A (n.1381G>A) c.1566G>A (p.Glu522=) c.2235G>A (p.Glu745=) c.1668G>A (p.Glu556=) n.454G>A n.607G>A n.554G>A n.235G>A n.310+251G>A c.1791G>A (p.Glu597=) c.2088G>A (p.Glu696=) c.2070G>A (p.Glu690=) c.1779G>A (p.Glu593=) c.1707G>A (p.Glu569=) n.2573G>A n.2512G>A n.2466G>A | dbSNP gnomAD v4 |
2 | g.25240390_25240391del | CA2749204353 | DNMT3A | c.553_554del c.1380_1381del (n.1380_1381del) c.1565_1566del (p.Glu522GlyfsTer3) c.2234_2235del (p.Glu745GlyfsTer3) c.1667_1668del (p.Glu556GlyfsTer3) n.453_454del n.606_607del n.553_554del n.234_235del n.310+250_310+251del c.1790_1791del (p.Glu597GlyfsTer3) c.2087_2088del (p.Glu696GlyfsTer3) c.2069_2070del (p.Glu690GlyfsTer3) c.1778_1779del (p.Glu593GlyfsTer3) c.1706_1707del (p.Glu569GlyfsTer3) n.2572_2573del n.2511_2512del n.2465_2466del | |
2 | g.25240390T>A | CA346070066 | DNMT3A | c.553A>T c.1380A>T (n.1380A>T) c.1565A>T (p.Glu522Val) c.2234A>T (p.Glu745Val) c.1667A>T (p.Glu556Val) n.453A>T n.606A>T n.553A>T n.234A>T n.310+250A>T c.1790A>T (p.Glu597Val) c.2087A>T (p.Glu696Val) c.2069A>T (p.Glu690Val) c.1778A>T (p.Glu593Val) c.1706A>T (p.Glu569Val) n.2572A>T n.2511A>T n.2465A>T | |
2 | g.25240390T>C | CA346070072 | DNMT3A | c.553A>G c.1380A>G (n.1380A>G) c.1565A>G (p.Glu522Gly) c.2234A>G (p.Glu745Gly) c.1667A>G (p.Glu556Gly) n.453A>G n.606A>G n.553A>G n.234A>G n.310+250A>G c.1790A>G (p.Glu597Gly) c.2087A>G (p.Glu696Gly) c.2069A>G (p.Glu690Gly) c.1778A>G (p.Glu593Gly) c.1706A>G (p.Glu569Gly) n.2572A>G n.2511A>G n.2465A>G | |
2 | g.25240390T>G | CA346070069 | DNMT3A | c.553A>C c.1380A>C (n.1380A>C) c.1565A>C (p.Glu522Ala) c.2234A>C (p.Glu745Ala) c.1667A>C (p.Glu556Ala) n.453A>C n.606A>C n.553A>C n.234A>C n.310+250A>C c.1790A>C (p.Glu597Ala) c.2087A>C (p.Glu696Ala) c.2069A>C (p.Glu690Ala) c.1778A>C (p.Glu593Ala) c.1706A>C (p.Glu569Ala) n.2572A>C n.2511A>C n.2465A>C | |
2 | g.25240391C>A | CA346070076 | DNMT3A | c.552G>T c.1379G>T (n.1379G>T) c.1564G>T (p.Glu522Ter) c.2233G>T (p.Glu745Ter) c.1666G>T (p.Glu556Ter) n.452G>T n.605G>T n.552G>T n.233G>T n.310+249G>T c.1789G>T (p.Glu597Ter) c.2086G>T (p.Glu696Ter) c.2068G>T (p.Glu690Ter) c.1777G>T (p.Glu593Ter) c.1705G>T (p.Glu569Ter) n.2571G>T n.2510G>T n.2464G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25240391C= | CA1239265276 | DNMT3A | c.552G= c.1379G= (n.1379G=) c.1564G= (p.Glu522=) c.2233G= (p.Glu745=) c.1666G= (p.Glu556=) n.452G= n.605G= n.552G= n.233G= n.310+249G= c.1789G= (p.Glu597=) c.2086G= (p.Glu696=) c.2068G= (p.Glu690=) c.1777G= (p.Glu593=) c.1705G= (p.Glu569=) n.2571G= n.2510G= n.2464G= | |
2 | g.25240391C>G | CA346070078 | DNMT3A | c.552G>C c.1379G>C (n.1379G>C) c.1564G>C (p.Glu522Gln) c.2233G>C (p.Glu745Gln) c.1666G>C (p.Glu556Gln) n.452G>C n.605G>C n.552G>C n.233G>C n.310+249G>C c.1789G>C (p.Glu597Gln) c.2086G>C (p.Glu696Gln) c.2068G>C (p.Glu690Gln) c.1777G>C (p.Glu593Gln) c.1705G>C (p.Glu569Gln) n.2571G>C n.2510G>C n.2464G>C | dbSNP gnomAD v4 |
2 | g.25240391C>T | CA346070083 | DNMT3A | c.552G>A c.1379G>A (n.1379G>A) c.1564G>A (p.Glu522Lys) c.2233G>A (p.Glu745Lys) c.1666G>A (p.Glu556Lys) n.452G>A n.605G>A n.552G>A n.233G>A n.310+249G>A c.1789G>A (p.Glu597Lys) c.2086G>A (p.Glu696Lys) c.2068G>A (p.Glu690Lys) c.1777G>A (p.Glu593Lys) c.1705G>A (p.Glu569Lys) n.2571G>A n.2510G>A n.2464G>A | |
2 | g.25240391_25240392insTGTCCCTCTTGTCACTAACGCCCATGGCCACCACATT | CA2658172260 | DNMT3A | c.551_552insAATGTGGTGGCCATGGGCGTTAGTGACAAGAGGGACA c.1378_1379insAATGTGGTGGCCATGGGCGTTAGTGACAAGAGGGACA (n.1378_1379insAATGTGGTGGCCATGGGCGTTAGTGACAAGAGGGACA) c.1563_1564insAATGTGGTGGCCATGGGCGTTAGTGACAAGAGGGACA (p.Glu522AsnfsTer16) c.2232_2233insAATGTGGTGGCCATGGGCGTTAGTGACAAGAGGGACA (p.Glu745AsnfsTer16) c.1665_1666insAATGTGGTGGCCATGGGCGTTAGTGACAAGAGGGACA (p.Glu556AsnfsTer16) n.451_452insAATGTGGTGGCCATGGGCGTTAGTGACAAGAGGGACA n.604_605insAATGTGGTGGCCATGGGCGTTAGTGACAAGAGGGACA n.551_552insAATGTGGTGGCCATGGGCGTTAGTGACAAGAGGGACA n.232_233insAATGTGGTGGCCATGGGCGTTAGTGACAAGAGGGACA n.310+248_310+249insAATGTGGTGGCCATGGGCGTTAGTGACAAGAGGGACA c.1788_1789insAATGTGGTGGCCATGGGCGTTAGTGACAAGAGGGACA (p.Glu597AsnfsTer16) c.2085_2086insAATGTGGTGGCCATGGGCGTTAGTGACAAGAGGGACA (p.Glu696AsnfsTer16) c.2067_2068insAATGTGGTGGCCATGGGCGTTAGTGACAAGAGGGACA (p.Glu690AsnfsTer16) c.1776_1777insAATGTGGTGGCCATGGGCGTTAGTGACAAGAGGGACA (p.Glu593AsnfsTer16) c.1704_1705insAATGTGGTGGCCATGGGCGTTAGTGACAAGAGGGACA (p.Glu569AsnfsTer16) n.2570_2571insAATGTGGTGGCCATGGGCGTTAGTGACAAGAGGGACA n.2509_2510insAATGTGGTGGCCATGGGCGTTAGTGACAAGAGGGACA n.2463_2464insAATGTGGTGGCCATGGGCGTTAGTGACAAGAGGGACA | gnomAD v4 |
2 | g.25240392C>A | CA346070085 | DNMT3A | c.551G>T c.1378G>T (n.1378G>T) c.1563G>T (p.Lys521Asn) c.2232G>T (p.Lys744Asn) c.1665G>T (p.Lys555Asn) n.451G>T n.604G>T n.551G>T n.232G>T n.310+248G>T c.1788G>T (p.Lys596Asn) c.2085G>T (p.Lys695Asn) c.2067G>T (p.Lys689Asn) c.1776G>T (p.Lys592Asn) c.1704G>T (p.Lys568Asn) n.2570G>T n.2509G>T n.2463G>T | |
2 | g.25240392C= | CA1239265278 | DNMT3A | c.551G= c.1378G= (n.1378G=) c.1563G= (p.Lys521=) c.2232G= (p.Lys744=) c.1665G= (p.Lys555=) n.451G= n.604G= n.551G= n.232G= n.310+248G= c.1788G= (p.Lys596=) c.2085G= (p.Lys695=) c.2067G= (p.Lys689=) c.1776G= (p.Lys592=) c.1704G= (p.Lys568=) n.2570G= n.2509G= n.2463G= | |
2 | g.25240392C>G | CA346070088 | DNMT3A | c.551G>C c.1378G>C (n.1378G>C) c.1563G>C (p.Lys521Asn) c.2232G>C (p.Lys744Asn) c.1665G>C (p.Lys555Asn) n.451G>C n.604G>C n.551G>C n.232G>C n.310+248G>C c.1788G>C (p.Lys596Asn) c.2085G>C (p.Lys695Asn) c.2067G>C (p.Lys689Asn) c.1776G>C (p.Lys592Asn) c.1704G>C (p.Lys568Asn) n.2570G>C n.2509G>C n.2463G>C | |
2 | g.25240392C>T | CA43698757 | DNMT3A | c.551G>A c.1378G>A (n.1378G>A) c.1563G>A (p.Lys521=) c.2232G>A (p.Lys744=) c.1665G>A (p.Lys555=) n.451G>A n.604G>A n.551G>A n.232G>A n.310+248G>A c.1788G>A (p.Lys596=) c.2085G>A (p.Lys695=) c.2067G>A (p.Lys689=) c.1776G>A (p.Lys592=) c.1704G>A (p.Lys568=) n.2570G>A n.2509G>A n.2463G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.25240393T>A | CA346070092 | DNMT3A | c.550A>T c.1377A>T (n.1377A>T) c.1562A>T (p.Lys521Met) c.2231A>T (p.Lys744Met) c.1664A>T (p.Lys555Met) n.450A>T n.603A>T n.550A>T n.231A>T n.310+247A>T c.1787A>T (p.Lys596Met) c.2084A>T (p.Lys695Met) c.2066A>T (p.Lys689Met) c.1775A>T (p.Lys592Met) c.1703A>T (p.Lys568Met) n.2569A>T n.2508A>T n.2462A>T | |
2 | g.25240393T>C | CA346070093 | DNMT3A | c.550A>G c.1377A>G (n.1377A>G) c.1562A>G (p.Lys521Arg) c.2231A>G (p.Lys744Arg) c.1664A>G (p.Lys555Arg) n.450A>G n.603A>G n.550A>G n.231A>G n.310+247A>G c.1787A>G (p.Lys596Arg) c.2084A>G (p.Lys695Arg) c.2066A>G (p.Lys689Arg) c.1775A>G (p.Lys592Arg) c.1703A>G (p.Lys568Arg) n.2569A>G n.2508A>G n.2462A>G | |
2 | g.25240393T>G | CA346070096 | DNMT3A | c.550A>C c.1377A>C (n.1377A>C) c.1562A>C (p.Lys521Thr) c.2231A>C (p.Lys744Thr) c.1664A>C (p.Lys555Thr) n.450A>C n.603A>C n.550A>C n.231A>C n.310+247A>C c.1787A>C (p.Lys596Thr) c.2084A>C (p.Lys695Thr) c.2066A>C (p.Lys689Thr) c.1775A>C (p.Lys592Thr) c.1703A>C (p.Lys568Thr) n.2569A>C n.2508A>C n.2462A>C | |
2 | g.25240394T>A | CA346070101 | DNMT3A | c.549A>T c.1376A>T (n.1376A>T) c.1561A>T (p.Lys521Ter) c.2230A>T (p.Lys744Ter) c.1663A>T (p.Lys555Ter) n.449A>T n.602A>T n.549A>T n.230A>T n.310+246A>T c.1786A>T (p.Lys596Ter) c.2083A>T (p.Lys695Ter) c.2065A>T (p.Lys689Ter) c.1774A>T (p.Lys592Ter) c.1702A>T (p.Lys568Ter) n.2568A>T n.2507A>T n.2461A>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25240394T>C | CA346070104 | DNMT3A | c.549A>G c.1376A>G (n.1376A>G) c.1561A>G (p.Lys521Glu) c.2230A>G (p.Lys744Glu) c.1663A>G (p.Lys555Glu) n.449A>G n.602A>G n.549A>G n.230A>G n.310+246A>G c.1786A>G (p.Lys596Glu) c.2083A>G (p.Lys695Glu) c.2065A>G (p.Lys689Glu) c.1774A>G (p.Lys592Glu) c.1702A>G (p.Lys568Glu) n.2568A>G n.2507A>G n.2461A>G | |
2 | g.25240394T>G | CA346070105 | DNMT3A | c.549A>C c.1376A>C (n.1376A>C) c.1561A>C (p.Lys521Gln) c.2230A>C (p.Lys744Gln) c.1663A>C (p.Lys555Gln) n.449A>C n.602A>C n.549A>C n.230A>C n.310+246A>C c.1786A>C (p.Lys596Gln) c.2083A>C (p.Lys695Gln) c.2065A>C (p.Lys689Gln) c.1774A>C (p.Lys592Gln) c.1702A>C (p.Lys568Gln) n.2568A>C n.2507A>C n.2461A>C | |
2 | g.25240394T= | CA1239265281 | DNMT3A | c.549A= c.1376A= (n.1376A=) c.1561A= (p.Lys521=) c.2230A= (p.Lys744=) c.1663A= (p.Lys555=) n.449A= n.602A= n.549A= n.230A= n.310+246A= c.1786A= (p.Lys596=) c.2083A= (p.Lys695=) c.2065A= (p.Lys689=) c.1774A= (p.Lys592=) c.1702A= (p.Lys568=) n.2568A= n.2507A= n.2461A= | |
2 | g.25240394_25240395insTA | CA2658172269 | DNMT3A | c.548_549insTA c.1375_1376insTA (n.1375_1376insTA) c.1560_1561insTA (p.Lys521Ter) c.2229_2230insTA (p.Lys744Ter) c.1662_1663insTA (p.Lys555Ter) n.448_449insTA n.601_602insTA n.548_549insTA n.229_230insTA n.310+245_310+246insTA c.1785_1786insTA (p.Lys596Ter) c.2082_2083insTA (p.Lys695Ter) c.2064_2065insTA (p.Lys689Ter) c.1773_1774insTA (p.Lys592Ter) c.1701_1702insTA (p.Lys568Ter) n.2567_2568insTA n.2506_2507insTA n.2460_2461insTA | gnomAD v4 |
2 | g.25240395G>A | CA425181452 | DNMT3A | c.548C>T c.1375C>T (n.1375C>T) c.1560C>T (p.Pro520=) c.2229C>T (p.Pro743=) c.1662C>T (p.Pro554=) n.448C>T n.601C>T n.548C>T n.229C>T n.310+245C>T c.1785C>T (p.Pro595=) c.2082C>T (p.Pro694=) c.2064C>T (p.Pro688=) c.1773C>T (p.Pro591=) c.1701C>T (p.Pro567=) n.2567C>T n.2506C>T n.2460C>T | |
2 | g.25240395G>C | CA425181453 | DNMT3A | c.548C>G c.1375C>G (n.1375C>G) c.1560C>G (p.Pro520=) c.2229C>G (p.Pro743=) c.1662C>G (p.Pro554=) n.448C>G n.601C>G n.548C>G n.229C>G n.310+245C>G c.1785C>G (p.Pro595=) c.2082C>G (p.Pro694=) c.2064C>G (p.Pro688=) c.1773C>G (p.Pro591=) c.1701C>G (p.Pro567=) n.2567C>G n.2506C>G n.2460C>G | |
2 | g.25240395G>T | CA425181454 | DNMT3A | c.548C>A c.1375C>A (n.1375C>A) c.1560C>A (p.Pro520=) c.2229C>A (p.Pro743=) c.1662C>A (p.Pro554=) n.448C>A n.601C>A n.548C>A n.229C>A n.310+245C>A c.1785C>A (p.Pro595=) c.2082C>A (p.Pro694=) c.2064C>A (p.Pro688=) c.1773C>A (p.Pro591=) c.1701C>A (p.Pro567=) n.2567C>A n.2506C>A n.2460C>A | |
2 | g.25240395_25240396delinsAA | CA645515178 | DNMT3A | c.547_548delinsTT c.1374_1375delinsTT (n.1374_1375delinsTT) c.1559_1560delinsTT (p.Pro520Leu) c.2228_2229delinsTT (p.Pro743Leu) c.1661_1662delinsTT (p.Pro554Leu) n.447_448delinsTT n.600_601delinsTT n.547_548delinsTT n.228_229delinsTT n.310+244_310+245delinsTT c.1784_1785delinsTT (p.Pro595Leu) c.2081_2082delinsTT (p.Pro694Leu) c.2063_2064delinsTT (p.Pro688Leu) c.1772_1773delinsTT (p.Pro591Leu) c.1700_1701delinsTT (p.Pro567Leu) n.2566_2567delinsTT n.2505_2506delinsTT n.2459_2460delinsTT | COSMIC COSMIC |
2 | g.25240397dup | CA2658172265 | DNMT3A | c.548dup c.1375dup (n.1375dup) c.1560dup (p.Lys521GlnfsTer5) c.2229dup (p.Lys744GlnfsTer5) c.1662dup (p.Lys555GlnfsTer5) n.448dup n.601dup n.548dup n.229dup n.310+245dup c.1785dup (p.Lys596GlnfsTer5) c.2082dup (p.Lys695GlnfsTer5) c.2064dup (p.Lys689GlnfsTer5) c.1773dup (p.Lys592GlnfsTer5) c.1701dup (p.Lys568GlnfsTer5) n.2567dup n.2506dup n.2460dup | gnomAD v4 |
2 | g.25240397del | CA645515177 | DNMT3A | c.548del c.1375del (n.1375del) c.1560del (p.Lys521ArgfsTer?) c.2229del (p.Lys744ArgfsTer?) c.1662del (p.Lys555ArgfsTer?) n.448del n.601del n.548del n.229del n.310+245del c.1785del (p.Lys596ArgfsTer?) c.2082del (p.Lys695ArgfsTer?) c.2064del (p.Lys689ArgfsTer?) c.1773del (p.Lys592ArgfsTer?) c.1701del (p.Lys568ArgfsTer?) n.2567del n.2506del n.2460del | gnomAD v4 COSMIC |
2 | g.25240395_25240447dup | CA2658172268 | DNMT3A | c.496_548dup c.1323_1375dup (n.1323_1375dup) c.1508_1560dup (p.Lys521AlafsTer?) c.2177_2229dup (p.Lys744AlafsTer?) c.1610_1662dup (p.Lys555AlafsTer?) n.396_448dup n.549_601dup n.496_548dup n.177_229dup n.310+193_310+245dup c.1733_1785dup (p.Lys596AlafsTer?) c.2030_2082dup (p.Lys695AlafsTer?) c.2012_2064dup (p.Lys689AlafsTer?) c.1721_1773dup (p.Lys592AlafsTer?) c.1649_1701dup (p.Lys568AlafsTer?) n.2515_2567dup n.2454_2506dup n.2408_2460dup | gnomAD v4 |
2 | g.25240396G>A | CA1555692 | DNMT3A | c.547C>T c.1374C>T (n.1374C>T) c.1559C>T (p.Pro520Leu) c.2228C>T (p.Pro743Leu) c.1661C>T (p.Pro554Leu) n.447C>T n.600C>T n.547C>T n.228C>T n.310+244C>T c.1784C>T (p.Pro595Leu) c.2081C>T (p.Pro694Leu) c.2063C>T (p.Pro688Leu) c.1772C>T (p.Pro591Leu) c.1700C>T (p.Pro567Leu) n.2566C>T n.2505C>T n.2459C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25240396G>C | CA1555691 | DNMT3A | c.547C>G c.1374C>G (n.1374C>G) c.1559C>G (p.Pro520Arg) c.2228C>G (p.Pro743Arg) c.1661C>G (p.Pro554Arg) n.447C>G n.600C>G n.547C>G n.228C>G n.310+244C>G c.1784C>G (p.Pro595Arg) c.2081C>G (p.Pro694Arg) c.2063C>G (p.Pro688Arg) c.1772C>G (p.Pro591Arg) c.1700C>G (p.Pro567Arg) n.2566C>G n.2505C>G n.2459C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25240396G= | CA1239265284 | DNMT3A | c.547C= c.1374C= (n.1374C=) c.1559C= (p.Pro520=) c.2228C= (p.Pro743=) c.1661C= (p.Pro554=) n.447C= n.600C= n.547C= n.228C= n.310+244C= c.1784C= (p.Pro595=) c.2081C= (p.Pro694=) c.2063C= (p.Pro688=) c.1772C= (p.Pro591=) c.1700C= (p.Pro567=) n.2566C= n.2505C= n.2459C= | |
2 | g.25240396G>T | CA346070106 | DNMT3A | c.547C>A c.1374C>A (n.1374C>A) c.1559C>A (p.Pro520His) c.2228C>A (p.Pro743His) c.1661C>A (p.Pro554His) n.447C>A n.600C>A n.547C>A n.228C>A n.310+244C>A c.1784C>A (p.Pro595His) c.2081C>A (p.Pro694His) c.2063C>A (p.Pro688His) c.1772C>A (p.Pro591His) c.1700C>A (p.Pro567His) n.2566C>A n.2505C>A n.2459C>A | dbSNP gnomAD v4 |
2 | g.25240396_25240401delinsGGCCGC | CA1239265286 | DNMT3A | c.542_547delinsGCGGCC c.1369_1374delinsGCGGCC (n.1369_1374delinsGCGGCC) c.1554_1559delinsGCGGCC (p.Ala518=) c.2223_2228delinsGCGGCC (p.Ala741=) c.1656_1661delinsGCGGCC (p.Ala552=) n.442_447delinsGCGGCC n.595_600delinsGCGGCC n.542_547delinsGCGGCC n.223_228delinsGCGGCC n.310+239_310+244delinsGCGGCC c.1779_1784delinsGCGGCC (p.Ala593=) c.2076_2081delinsGCGGCC (p.Ala692=) c.2058_2063delinsGCGGCC (p.Ala686=) c.1767_1772delinsGCGGCC (p.Ala589=) c.1695_1700delinsGCGGCC (p.Ala565=) n.2561_2566delinsGCGGCC n.2500_2505delinsGCGGCC n.2454_2459delinsGCGGCC | |
2 | g.25240397G>A | CA346070117 | DNMT3A | c.546C>T c.1373C>T (n.1373C>T) c.1558C>T (p.Pro520Ser) c.2227C>T (p.Pro743Ser) c.1660C>T (p.Pro554Ser) n.446C>T n.599C>T n.546C>T n.227C>T n.310+243C>T c.1783C>T (p.Pro595Ser) c.2080C>T (p.Pro694Ser) c.2062C>T (p.Pro688Ser) c.1771C>T (p.Pro591Ser) c.1699C>T (p.Pro567Ser) n.2565C>T n.2504C>T n.2458C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25240397G>C | CA346070112 | DNMT3A | c.546C>G c.1373C>G (n.1373C>G) c.1558C>G (p.Pro520Ala) c.2227C>G (p.Pro743Ala) c.1660C>G (p.Pro554Ala) n.446C>G n.599C>G n.546C>G n.227C>G n.310+243C>G c.1783C>G (p.Pro595Ala) c.2080C>G (p.Pro694Ala) c.2062C>G (p.Pro688Ala) c.1771C>G (p.Pro591Ala) c.1699C>G (p.Pro567Ala) n.2565C>G n.2504C>G n.2458C>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25240397G= | CA1239265288 | DNMT3A | c.546C= c.1373C= (n.1373C=) c.1558C= (p.Pro520=) c.2227C= (p.Pro743=) c.1660C= (p.Pro554=) n.446C= n.599C= n.546C= n.227C= n.310+243C= c.1783C= (p.Pro595=) c.2080C= (p.Pro694=) c.2062C= (p.Pro688=) c.1771C= (p.Pro591=) c.1699C= (p.Pro567=) n.2565C= n.2504C= n.2458C= | |
2 | g.25240397G>T | CA346070115 | DNMT3A | c.546C>A c.1373C>A (n.1373C>A) c.1558C>A (p.Pro520Thr) c.2227C>A (p.Pro743Thr) c.1660C>A (p.Pro554Thr) n.446C>A n.599C>A n.546C>A n.227C>A n.310+243C>A c.1783C>A (p.Pro595Thr) c.2080C>A (p.Pro694Thr) c.2062C>A (p.Pro688Thr) c.1771C>A (p.Pro591Thr) c.1699C>A (p.Pro567Thr) n.2565C>A n.2504C>A n.2458C>A | gnomAD v4 |
2 | g.25240397_25240398delinsGC | CA1239265289 | DNMT3A | c.545_546delinsGC c.1372_1373delinsGC (n.1372_1373delinsGC) c.1557_1558delinsGC (p.Arg519=) c.2226_2227delinsGC (p.Arg742=) c.1659_1660delinsGC (p.Arg553=) n.445_446delinsGC n.598_599delinsGC n.545_546delinsGC n.226_227delinsGC n.310+242_310+243delinsGC c.1782_1783delinsGC (p.Arg594=) c.2079_2080delinsGC (p.Arg693=) c.2061_2062delinsGC (p.Arg687=) c.1770_1771delinsGC (p.Arg590=) c.1698_1699delinsGC (p.Arg566=) n.2564_2565delinsGC n.2503_2504delinsGC n.2457_2458delinsGC | |
2 | g.25240399_25240403del | CA1239265290 | DNMT3A | c.542_546del c.1369_1373del (n.1369_1373del) c.1554_1558del (p.Arg519GlnfsTer5) c.2223_2227del (p.Arg742GlnfsTer5) c.1656_1660del (p.Arg553GlnfsTer5) n.442_446del n.595_599del n.542_546del n.223_227del n.310+239_310+243del c.1779_1783del (p.Arg594GlnfsTer5) c.2076_2080del (p.Arg693GlnfsTer5) c.2058_2062del (p.Arg687GlnfsTer5) c.1767_1771del (p.Arg590GlnfsTer5) c.1695_1699del (p.Arg566GlnfsTer5) n.2561_2565del n.2500_2504del n.2454_2458del | dbSNP |
2 | g.25240398C>A | CA425181455 | DNMT3A | c.545G>T c.1372G>T (n.1372G>T) c.1557G>T (p.Arg519=) c.2226G>T (p.Arg742=) c.1659G>T (p.Arg553=) n.445G>T n.598G>T n.545G>T n.226G>T n.310+242G>T c.1782G>T (p.Arg594=) c.2079G>T (p.Arg693=) c.2061G>T (p.Arg687=) c.1770G>T (p.Arg590=) c.1698G>T (p.Arg566=) n.2564G>T n.2503G>T n.2457G>T | gnomAD v4 |
2 | g.25240398C= | CA1239265292 | DNMT3A | c.545G= c.1372G= (n.1372G=) c.1557G= (p.Arg519=) c.2226G= (p.Arg742=) c.1659G= (p.Arg553=) n.445G= n.598G= n.545G= n.226G= n.310+242G= c.1782G= (p.Arg594=) c.2079G= (p.Arg693=) c.2061G= (p.Arg687=) c.1770G= (p.Arg590=) c.1698G= (p.Arg566=) n.2564G= n.2503G= n.2457G= | |
2 | g.25240398C>G | CA425181456 | DNMT3A | c.545G>C c.1372G>C (n.1372G>C) c.1557G>C (p.Arg519=) c.2226G>C (p.Arg742=) c.1659G>C (p.Arg553=) n.445G>C n.598G>C n.545G>C n.226G>C n.310+242G>C c.1782G>C (p.Arg594=) c.2079G>C (p.Arg693=) c.2061G>C (p.Arg687=) c.1770G>C (p.Arg590=) c.1698G>C (p.Arg566=) n.2564G>C n.2503G>C n.2457G>C | gnomAD v4 |
2 | g.25240398C>T | CA425181457 | DNMT3A | c.545G>A c.1372G>A (n.1372G>A) c.1557G>A (p.Arg519=) c.2226G>A (p.Arg742=) c.1659G>A (p.Arg553=) n.445G>A n.598G>A n.545G>A n.226G>A n.310+242G>A c.1782G>A (p.Arg594=) c.2079G>A (p.Arg693=) c.2061G>A (p.Arg687=) c.1770G>A (p.Arg590=) c.1698G>A (p.Arg566=) n.2564G>A n.2503G>A n.2457G>A | dbSNP |
2 | g.25240399_25240400insCCC | CA2658172286 | DNMT3A | c.545_546insGGG c.1372_1373insGGG (n.1372_1373insGGG) c.1557_1558insGGG (p.Arg519_Pro520insGly) c.2226_2227insGGG (p.Arg742_Pro743insGly) c.1659_1660insGGG (p.Arg553_Pro554insGly) n.445_446insGGG n.598_599insGGG n.545_546insGGG n.226_227insGGG n.310+242_310+243insGGG c.1782_1783insGGG (p.Arg594_Pro595insGly) c.2079_2080insGGG (p.Arg693_Pro694insGly) c.2061_2062insGGG (p.Arg687_Pro688insGly) c.1770_1771insGGG (p.Arg590_Pro591insGly) c.1698_1699insGGG (p.Arg566_Pro567insGly) n.2564_2565insGGG n.2503_2504insGGG n.2457_2458insGGG | gnomAD v4 |
2 | g.25240399dup | CA2658172288 | DNMT3A | c.545dup c.1372dup (n.1372dup) c.1557dup (p.Pro520AlafsTer6) c.2226dup (p.Pro743AlafsTer6) c.1659dup (p.Pro554AlafsTer6) n.445dup n.598dup n.545dup n.226dup n.310+242dup c.1782dup (p.Pro595AlafsTer6) c.2079dup (p.Pro694AlafsTer6) c.2061dup (p.Pro688AlafsTer6) c.1770dup (p.Pro591AlafsTer6) c.1698dup (p.Pro567AlafsTer6) n.2564dup n.2503dup n.2457dup | gnomAD v4 |
2 | g.25240399del | CA1555693 | DNMT3A | c.545del c.1372del (n.1372del) c.1557del (p.Lys521ArgfsTer?) c.2226del (p.Lys744ArgfsTer?) c.1659del (p.Lys555ArgfsTer?) n.445del n.598del n.545del n.226del n.310+242del c.1782del (p.Lys596ArgfsTer?) c.2079del (p.Lys695ArgfsTer?) c.2061del (p.Lys689ArgfsTer?) c.1770del (p.Lys592ArgfsTer?) c.1698del (p.Lys568ArgfsTer?) n.2564del n.2503del n.2457del | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25240399C>A | CA346070123 | DNMT3A | c.544G>T c.1371G>T (n.1371G>T) c.1556G>T (p.Arg519Leu) c.2225G>T (p.Arg742Leu) c.1658G>T (p.Arg553Leu) n.444G>T n.597G>T n.544G>T n.225G>T n.310+241G>T c.1781G>T (p.Arg594Leu) c.2078G>T (p.Arg693Leu) c.2060G>T (p.Arg687Leu) c.1769G>T (p.Arg590Leu) c.1697G>T (p.Arg566Leu) n.2563G>T n.2502G>T n.2456G>T | COSMIC COSMIC |
2 | g.25240399C= | CA1239265294 | DNMT3A | c.544G= c.1371G= (n.1371G=) c.1556G= (p.Arg519=) c.2225G= (p.Arg742=) c.1658G= (p.Arg553=) n.444G= n.597G= n.544G= n.225G= n.310+241G= c.1781G= (p.Arg594=) c.2078G= (p.Arg693=) c.2060G= (p.Arg687=) c.1769G= (p.Arg590=) c.1697G= (p.Arg566=) n.2563G= n.2502G= n.2456G= | |
2 | g.25240399C>G | CA1555695 | DNMT3A | c.544G>C c.1371G>C (n.1371G>C) c.1556G>C (p.Arg519Pro) c.2225G>C (p.Arg742Pro) c.1658G>C (p.Arg553Pro) n.444G>C n.597G>C n.544G>C n.225G>C n.310+241G>C c.1781G>C (p.Arg594Pro) c.2078G>C (p.Arg693Pro) c.2060G>C (p.Arg687Pro) c.1769G>C (p.Arg590Pro) c.1697G>C (p.Arg566Pro) n.2563G>C n.2502G>C n.2456G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25240399C>T | CA346070128 | DNMT3A | c.544G>A c.1371G>A (n.1371G>A) c.1556G>A (p.Arg519Gln) c.2225G>A (p.Arg742Gln) c.1658G>A (p.Arg553Gln) n.444G>A n.597G>A n.544G>A n.225G>A n.310+241G>A c.1781G>A (p.Arg594Gln) c.2078G>A (p.Arg693Gln) c.2060G>A (p.Arg687Gln) c.1769G>A (p.Arg590Gln) c.1697G>A (p.Arg566Gln) n.2563G>A n.2502G>A n.2456G>A | dbSNP |
2 | g.25240402_25240403dup | CA1555694 | DNMT3A | c.543_544dup c.1370_1371dup (n.1370_1371dup) c.1555_1556dup (p.Pro520GlyfsTer?) c.2224_2225dup (p.Pro743GlyfsTer?) c.1657_1658dup (p.Pro554GlyfsTer?) n.443_444dup n.596_597dup n.543_544dup n.224_225dup n.310+240_310+241dup c.1780_1781dup (p.Pro595GlyfsTer?) c.2077_2078dup (p.Pro694GlyfsTer?) c.2059_2060dup (p.Pro688GlyfsTer?) c.1768_1769dup (p.Pro591GlyfsTer?) c.1696_1697dup (p.Pro567GlyfsTer?) n.2562_2563dup n.2501_2502dup n.2455_2456dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25240402_25240403del | CA2658172294 | DNMT3A | c.543_544del c.1370_1371del (n.1370_1371del) c.1555_1556del (p.Arg519AlafsTer6) c.2224_2225del (p.Arg742AlafsTer6) c.1657_1658del (p.Arg553AlafsTer6) n.443_444del n.596_597del n.543_544del n.224_225del n.310+240_310+241del c.1780_1781del (p.Arg594AlafsTer6) c.2077_2078del (p.Arg693AlafsTer6) c.2059_2060del (p.Arg687AlafsTer6) c.1768_1769del (p.Arg590AlafsTer6) c.1696_1697del (p.Arg566AlafsTer6) n.2562_2563del n.2501_2502del n.2455_2456del | gnomAD v4 |
2 | g.25240399_25240400insA | CA2658172304 | DNMT3A | c.543_544insT c.1370_1371insT (n.1370_1371insT) c.1555_1556insT (p.Arg519LeufsTer7) c.2224_2225insT (p.Arg742LeufsTer7) c.1657_1658insT (p.Arg553LeufsTer7) n.443_444insT n.596_597insT n.543_544insT n.224_225insT n.310+240_310+241insT c.1780_1781insT (p.Arg594LeufsTer7) c.2077_2078insT (p.Arg693LeufsTer7) c.2059_2060insT (p.Arg687LeufsTer7) c.1768_1769insT (p.Arg590LeufsTer7) c.1696_1697insT (p.Arg566LeufsTer7) n.2562_2563insT n.2501_2502insT n.2455_2456insT | gnomAD v4 |
2 | g.25240399_25240400insT | CA2658172306 | DNMT3A | c.543_544insA c.1370_1371insA (n.1370_1371insA) c.1555_1556insA (p.Arg519GlnfsTer7) c.2224_2225insA (p.Arg742GlnfsTer7) c.1657_1658insA (p.Arg553GlnfsTer7) n.443_444insA n.596_597insA n.543_544insA n.224_225insA n.310+240_310+241insA c.1780_1781insA (p.Arg594GlnfsTer7) c.2077_2078insA (p.Arg693GlnfsTer7) c.2059_2060insA (p.Arg687GlnfsTer7) c.1768_1769insA (p.Arg590GlnfsTer7) c.1696_1697insA (p.Arg566GlnfsTer7) n.2562_2563insA n.2501_2502insA n.2455_2456insA | gnomAD v4 |
2 | g.25240400del | CA2576693919 | DNMT3A | c.543del c.1370del (n.1370del) c.1555del (p.Arg519GlyfsTer?) c.2224del (p.Arg742GlyfsTer?) c.1657del (p.Arg553GlyfsTer?) n.443del n.596del n.543del n.224del n.310+240del c.1780del (p.Arg594GlyfsTer?) c.2077del (p.Arg693GlyfsTer?) c.2059del (p.Arg687GlyfsTer?) c.1768del (p.Arg590GlyfsTer?) c.1696del (p.Arg566GlyfsTer?) n.2562del n.2501del n.2455del | |
2 | g.25240400G>A | CA346070130 | DNMT3A | c.543C>T c.1370C>T (n.1370C>T) c.1555C>T (p.Arg519Trp) c.2224C>T (p.Arg742Trp) c.1657C>T (p.Arg553Trp) n.443C>T n.596C>T n.543C>T n.224C>T n.310+240C>T c.1780C>T (p.Arg594Trp) c.2077C>T (p.Arg693Trp) c.2059C>T (p.Arg687Trp) c.1768C>T (p.Arg590Trp) c.1696C>T (p.Arg566Trp) n.2562C>T n.2501C>T n.2455C>T | dbSNP gnomAD v4 |
2 | g.25240400G>C | CA346070132 | DNMT3A | c.543C>G c.1370C>G (n.1370C>G) c.1555C>G (p.Arg519Gly) c.2224C>G (p.Arg742Gly) c.1657C>G (p.Arg553Gly) n.443C>G n.596C>G n.543C>G n.224C>G n.310+240C>G c.1780C>G (p.Arg594Gly) c.2077C>G (p.Arg693Gly) c.2059C>G (p.Arg687Gly) c.1768C>G (p.Arg590Gly) c.1696C>G (p.Arg566Gly) n.2562C>G n.2501C>G n.2455C>G | gnomAD v4 |
2 | g.25240400G>T | CA425181458 | DNMT3A | c.543C>A c.1370C>A (n.1370C>A) c.1555C>A (p.Arg519=) c.2224C>A (p.Arg742=) c.1657C>A (p.Arg553=) n.443C>A n.596C>A n.543C>A n.224C>A n.310+240C>A c.1780C>A (p.Arg594=) c.2077C>A (p.Arg693=) c.2059C>A (p.Arg687=) c.1768C>A (p.Arg590=) c.1696C>A (p.Arg566=) n.2562C>A n.2501C>A n.2455C>A | |
2 | g.25240401_25240412del | CA2658172307 | DNMT3A | c.532_543del c.1359_1370del (n.1359_1370del) c.1544_1555del (p.Leu515_Ala518del) c.2213_2224del (p.Leu738_Ala741del) c.1646_1657del (p.Leu549_Ala552del) n.432_443del n.585_596del n.532_543del n.213_224del n.310+229_310+240del c.1769_1780del (p.Leu590_Ala593del) c.2066_2077del (p.Leu689_Ala692del) c.2048_2059del (p.Leu683_Ala686del) c.1757_1768del (p.Leu586_Ala589del) c.1685_1696del (p.Leu562_Ala565del) n.2551_2562del n.2490_2501del n.2444_2455del | gnomAD v4 |
2 | g.25240401del | CA2699054691 | DNMT3A | c.542del c.1369del (n.1369del) c.1554del (p.Arg519GlyfsTer?) c.2223del (p.Arg742GlyfsTer?) c.1656del (p.Arg553GlyfsTer?) n.442del n.595del n.542del n.223del n.310+239del c.1779del (p.Arg594GlyfsTer?) c.2076del (p.Arg693GlyfsTer?) c.2058del (p.Arg687GlyfsTer?) c.1767del (p.Arg590GlyfsTer?) c.1695del (p.Arg566GlyfsTer?) n.2561del n.2500del n.2454del | dbSNP |
2 | g.25240401C>A | CA425181461 | DNMT3A | c.542G>T c.1369G>T (n.1369G>T) c.1554G>T (p.Ala518=) c.2223G>T (p.Ala741=) c.1656G>T (p.Ala552=) n.442G>T n.595G>T n.542G>T n.223G>T n.310+239G>T c.1779G>T (p.Ala593=) c.2076G>T (p.Ala692=) c.2058G>T (p.Ala686=) c.1767G>T (p.Ala589=) c.1695G>T (p.Ala565=) n.2561G>T n.2500G>T n.2454G>T | |
2 | g.25240401C= | CA1239265296 | DNMT3A | c.542G= c.1369G= (n.1369G=) c.1554G= (p.Ala518=) c.2223G= (p.Ala741=) c.1656G= (p.Ala552=) n.442G= n.595G= n.542G= n.223G= n.310+239G= c.1779G= (p.Ala593=) c.2076G= (p.Ala692=) c.2058G= (p.Ala686=) c.1767G= (p.Ala589=) c.1695G= (p.Ala565=) n.2561G= n.2500G= n.2454G= | |
2 | g.25240401C>G | CA425181459 | DNMT3A | c.542G>C c.1369G>C (n.1369G>C) c.1554G>C (p.Ala518=) c.2223G>C (p.Ala741=) c.1656G>C (p.Ala552=) n.442G>C n.595G>C n.542G>C n.223G>C n.310+239G>C c.1779G>C (p.Ala593=) c.2076G>C (p.Ala692=) c.2058G>C (p.Ala686=) c.1767G>C (p.Ala589=) c.1695G>C (p.Ala565=) n.2561G>C n.2500G>C n.2454G>C | |
2 | g.25240401C>T | CA425181460 | DNMT3A | c.542G>A c.1369G>A (n.1369G>A) c.1554G>A (p.Ala518=) c.2223G>A (p.Ala741=) c.1656G>A (p.Ala552=) n.442G>A n.595G>A n.542G>A n.223G>A n.310+239G>A c.1779G>A (p.Ala593=) c.2076G>A (p.Ala692=) c.2058G>A (p.Ala686=) c.1767G>A (p.Ala589=) c.1695G>A (p.Ala565=) n.2561G>A n.2500G>A n.2454G>A | dbSNP gnomAD v4 COSMIC COSMIC |