Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.25240290_25240301delCA2658171593DNMT3Ac.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
2g.25240299_25240311delCA2658171609DNMT3Ac.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
2g.25240300_25240301delCA2658171615DNMT3Ac.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
2g.25240301_25240306delCA2658171617DNMT3Ac.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
2g.25240301_25240310delCA2658171621DNMT3Ac.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
2g.25240301C>ACA346069601DNMT3Ac.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
2g.25240301C=CA1239265078DNMT3Ac.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=
2g.25240301C>GCA346069602DNMT3Ac.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
2g.25240301C>TCA16021329DNMT3Ac.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
2g.25240302delCA2699053721DNMT3Ac.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
2g.25240302_25240304dupCA2576693873DNMT3Ac.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
2g.25240302C>ACA346069603DNMT3Ac.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
2g.25240302C=CA1239265082DNMT3Ac.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=
2g.25240302C>GCA346069604DNMT3Ac.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
2g.25240302C>TCA1555650DNMT3Ac.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
2g.25240303_25240304delCA2576693876DNMT3Ac.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
2g.25240305_25240358dupCA2658171641DNMT3Ac.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
2g.25240303T>ACA346069605DNMT3Ac.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
2g.25240303T>CCA346069607DNMT3Ac.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
2g.25240303T>GCA346069606DNMT3Ac.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
2g.25240303T=CA1239265085DNMT3Ac.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=
2g.25240306_25240313dupCA2658171651DNMT3Ac.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
2g.25240304delCA2658171658DNMT3Ac.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
2g.25240304C>ACA346069608DNMT3Ac.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
2g.25240304C=CA1239265089DNMT3Ac.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=
2g.25240304C>GCA346069609DNMT3Ac.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
2g.25240304C>TCA1555652DNMT3Ac.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
2g.25240309_25240318dupCA1555651DNMT3Ac.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
2g.25240305G>ACA1555653DNMT3Ac.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
2g.25240305G>CCA425181393DNMT3Ac.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
2g.25240305G=CA1239265096DNMT3Ac.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=
2g.25240305G>TCA425181394DNMT3Ac.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
2g.25240305dupCA2576693878DNMT3Ac.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
2g.25240305_25240309delCA2658171666DNMT3Ac.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
2g.25240305_25240319delinsGAGAAATCGCGAGATCA1239265095DNMT3Ac.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
2g.25240305_25240306insGTGGTCGCCGTATCATTAAAAACA2749204340DNMT3Ac.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
2g.25240306A=CA1239265101DNMT3Ac.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=
2g.25240306A>CCA1555655DNMT3Ac.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
2g.25240306A>GCA346069613DNMT3Ac.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
2g.25240306A>TCA346069614DNMT3Ac.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
2g.25240306_25240319delCA1555654DNMT3Ac.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
2g.25240307delCA2658171686DNMT3Ac.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
2g.25240307G>ACA346069618DNMT3Ac.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
2g.25240307G>CCA346069619DNMT3Ac.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
2g.25240307G=CA1239265105DNMT3Ac.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=
2g.25240307G>TCA1555656DNMT3Ac.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
2g.25240307_25240308delinsGACA1239265106DNMT3Ac.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
2g.25240308A=CA1239265109DNMT3Ac.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=
2g.25240308A>CCA346069623DNMT3Ac.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
2g.25240308A>GCA425181395DNMT3Ac.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
2g.25240308A>TCA346069624DNMT3Ac.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
2g.25240310delCA1239265107DNMT3Ac.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
2g.25240309_25240310delCA2658171698DNMT3Ac.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
2g.25240309A=CA1239265111DNMT3Ac.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=
2g.25240309A>CCA346069626DNMT3Ac.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
2g.25240309A>GCA346069628DNMT3Ac.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
2g.25240309A>TCA346069630DNMT3Ac.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
2g.25240309_25240312delCA2576693880DNMT3Ac.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
2g.25240310A=CA1239265113DNMT3Ac.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=
2g.25240310A>CCA346069632DNMT3Ac.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
2g.25240310A>GCA346069634DNMT3Ac.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
2g.25240310A>TCA346069636DNMT3Ac.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
2g.25240310_25240314delinsATCGCCA1239265114DNMT3Ac.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
2g.25240312_25240319delCA2658171712DNMT3Ac.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
2g.25240311T>ACA425181396DNMT3Ac.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
2g.25240311T>CCA425181397DNMT3Ac.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
2g.25240311T>GCA425181398DNMT3Ac.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
2g.25240311T=CA1239265116DNMT3Ac.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=
2g.25240311_25240314delCA1239265115DNMT3Ac.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
2g.25240311_25240315delCA2749204346DNMT3Ac.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
2g.25240311_25240364dupCA2658171721DNMT3Ac.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
2g.25240312delCA2576693886DNMT3Ac.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
2g.25240312C>ACA346069638DNMT3Ac.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
2g.25240312C=CA1239265123DNMT3Ac.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=
2g.25240312C>GCA346069640DNMT3Ac.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
2g.25240312C>TCA1555657DNMT3Ac.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
2g.25240312_25240315delCA2658171748DNMT3Ac.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
2g.25240314_25240315dupCA645515158DNMT3Ac.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
2g.25240312_25240337dupCA916494386DNMT3Ac.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
2g.25240315_25240339dupCA2658171739DNMT3Ac.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
2g.25240313delCA2658171770DNMT3Ac.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
2g.25240313G>ACA1555658DNMT3Ac.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
2g.25240313G>CCA346069644DNMT3Ac.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
2g.25240313G=CA1239265127DNMT3Ac.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=
2g.25240313G>TCA425181399DNMT3Ac.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
2g.25240313dupCA2658171767DNMT3Ac.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
2g.25240314C>ACA425181400DNMT3Ac.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
2g.25240314C=CA1239265130DNMT3Ac.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=
2g.25240314C>GCA425181401DNMT3Ac.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
2g.25240314C>TCA1555659DNMT3Ac.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
2g.25240314dupCA916494387DNMT3Ac.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
2g.25240314_25240315insCGCA645515162DNMT3Ac.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
2g.25240315G>ACA1555660DNMT3Ac.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
2g.25240315G>CCA43698606DNMT3Ac.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
2g.25240315G=CA1239265133DNMT3Ac.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=
2g.25240315G>TCA1555661DNMT3Ac.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
2g.25240315_25240317dupCA2658171799DNMT3Ac.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
2g.25240316delCA2658171807DNMT3Ac.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
2g.25240316A=CA1239265135DNMT3Ac.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=
2g.25240316A>CCA346069652DNMT3Ac.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
2g.25240316A>GCA346069654DNMT3Ac.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
2g.25240316A>TCA346069656DNMT3Ac.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
2g.25240316dupCA645515164DNMT3Ac.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
2g.25240317delCA425181404DNMT3Ac.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
2g.25240317G>ACA425181402DNMT3Ac.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
2g.25240317G>CCA346069658DNMT3Ac.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
2g.25240317G=CA1239265138DNMT3Ac.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=
2g.25240317G>TCA425181403DNMT3Ac.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
2g.25240317_25240318insTCA425181405DNMT3Ac.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
2g.25240318delCA2576693894DNMT3Ac.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
2g.25240318A=CA1239265140DNMT3Ac.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=
2g.25240318A>CCA43698607DNMT3Ac.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
2g.25240318A>GCA1555662DNMT3Ac.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
2g.25240318A>TCA346069663DNMT3Ac.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
2g.25240318dupCA2658171825DNMT3Ac.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
2g.25240319delCA2658171834DNMT3Ac.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
2g.25240319T>ACA346069666DNMT3Ac.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
2g.25240319T>CCA346069668DNMT3Ac.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
2g.25240319T>GCA346069669DNMT3Ac.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
2g.25240319T=CA1239265142DNMT3Ac.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=
2g.25240320G>ACA425181406DNMT3Ac.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
2g.25240320G>CCA346069672DNMT3Ac.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
2g.25240320G=CA1239265143DNMT3Ac.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=
2g.25240320G>TCA346069674DNMT3Ac.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
2g.25240321delCA2658171848DNMT3Ac.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
2g.25240321T>ACA346069681DNMT3Ac.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
2g.25240321T>CCA346069679DNMT3Ac.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
2g.25240321T>GCA346069677DNMT3Ac.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
2g.25240321T=CA1239265145DNMT3Ac.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=
2g.25240322C>ACA1555663DNMT3Ac.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
2g.25240322C=CA1239265149DNMT3Ac.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=
2g.25240322C>GCA43698617DNMT3Ac.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
2g.25240322C>TCA346069685DNMT3Ac.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
2g.25240324dupCA2838216060DNMT3Ac.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
2g.25240324delCA425181407DNMT3Ac.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
2g.25240322_25240323insGACACA1028506260DNMT3Ac.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
2g.25240323C>ACA346069689DNMT3Ac.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
2g.25240323C>GCA346069696DNMT3Ac.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
2g.25240323C>TCA425181408DNMT3Ac.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
2g.25240323_25240359dupCA2658171865DNMT3Ac.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
2g.25240324C>ACA346069699DNMT3Ac.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
2g.25240324C>GCA346069700DNMT3Ac.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
2g.25240324C>TCA346069701DNMT3Ac.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
2g.25240324_25240327delinsCTCTCA1239265150DNMT3Ac.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
2g.25240325delCA425181410DNMT3Ac.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
2g.25240325T>ACA346069704DNMT3Ac.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
2g.25240325T>CCA346069706DNMT3Ac.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
2g.25240325T>GCA425181409DNMT3Ac.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
2g.25240326_25240328delCA767173224DNMT3Ac.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
2g.25240327_25240331delCA2576693896DNMT3Ac.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
2g.25240326C>ACA346069709DNMT3Ac.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
2g.25240326C>GCA346069711DNMT3Ac.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
2g.25240326C>TCA425181411DNMT3Ac.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
2g.25240326_25240328delinsCTTCA1239265153DNMT3Ac.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
2g.25240327_25240349delCA2838033017DNMT3Ac.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
2g.25240327T>ACA346069714DNMT3Ac.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
2g.25240327T>CCA346069717DNMT3Ac.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
2g.25240327T>GCA346069718DNMT3Ac.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
2g.25240327_25240328delCA1555664DNMT3Ac.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
2g.25240328dupCA1139654958DNMT3Ac.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
2g.25240328delCA645515165DNMT3Ac.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
2g.25240328T>ACA346069726DNMT3Ac.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
2g.25240328T>CCA346069724DNMT3Ac.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
2g.25240328T>GCA346069720DNMT3Ac.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
2g.25240329_25240330delCA2658171890DNMT3Ac.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
2g.25240329G>ACA425181412DNMT3Ac.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
2g.25240329G>CCA346069728DNMT3Ac.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
2g.25240329G>TCA346069729DNMT3Ac.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
2g.25240330T>ACA346069730DNMT3Ac.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
2g.25240330T>CCA346069731DNMT3Ac.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
2g.25240330T>GCA346069733DNMT3Ac.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
2g.25240330dupCA2576693898DNMT3Ac.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
2g.25240330_25240331delinsTCCA1239265156DNMT3Ac.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
2g.25240331delCA1239265158DNMT3Ac.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
2g.25240331C>ACA346069734DNMT3Ac.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
2g.25240331C>GCA346069736DNMT3Ac.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
2g.25240331C>TCA346069738DNMT3Ac.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
2g.25240332A>CCA346069739DNMT3Ac.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
2g.25240332A>GCA425181414DNMT3Ac.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
2g.25240332A>TCA346069741DNMT3Ac.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
2g.25240334_25240337delCA2658171905DNMT3Ac.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
2g.25240333delCA2658171908DNMT3Ac.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
2g.25240333C>ACA346069743DNMT3Ac.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
2g.25240333C>GCA346069745DNMT3Ac.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
2g.25240333C>TCA346069746DNMT3Ac.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
2g.25240334T>ACA346069750DNMT3Ac.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
2g.25240334T>CCA346069752DNMT3Ac.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
2g.25240334T>GCA346069749DNMT3Ac.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
2g.25240334dupCA2576693899DNMT3Ac.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
2g.25240335A>CCA425181415DNMT3Ac.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
2g.25240335A>GCA425181416DNMT3Ac.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
2g.25240335A>TCA425181417DNMT3Ac.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
2g.25240336dupCA2658171924DNMT3Ac.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
2g.25240335_25240336dupCA2658171927DNMT3Ac.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
2g.25240336delCA2658171931DNMT3Ac.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
2g.25240336A=CA1239265160DNMT3Ac.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=
2g.25240336A>CCA346069755DNMT3Ac.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
2g.25240336A>GCA346069757DNMT3Ac.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
2g.25240336A>TCA346069759DNMT3Ac.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
2g.25240336_25240337delCA1028506284DNMT3Ac.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
2g.25240337delCA2658171945DNMT3Ac.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
2g.25240337C>ACA346069761DNMT3Ac.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
2g.25240337C=CA1239265161DNMT3Ac.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=
2g.25240337C>GCA346069770DNMT3Ac.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
2g.25240337C>TCA346069773DNMT3Ac.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
2g.25240338_25240341delCA2841451871DNMT3Ac.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
2g.25240337_25240338insACA2658171953DNMT3Ac.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
2g.25240337_25240338insTTTACA1555665DNMT3Ac.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
2g.25240338G>ACA425181418DNMT3Ac.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
2g.25240338G>CCA425181419DNMT3Ac.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
2g.25240338G=CA1239265163DNMT3Ac.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=
2g.25240338G>TCA425181420DNMT3Ac.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
2g.25240338_25240339insTTAGCA2576693901DNMT3Ac.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
2g.25240339C>ACA346069778DNMT3Ac.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
2g.25240339C>GCA346069779DNMT3Ac.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
2g.25240339C>TCA346069782DNMT3Ac.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
2g.25240341dupCA531369114DNMT3Ac.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
2g.25240341delCA2658171972DNMT3Ac.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
2g.25240340C>ACA346069784DNMT3Ac.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
2g.25240340C=CA1239265165DNMT3Ac.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=
2g.25240340C>GCA346069785DNMT3Ac.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
2g.25240340C>TCA346069788DNMT3Ac.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
2g.25240343_25240348dupCA645515166DNMT3Ac.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
2g.25240341C>ACA346069789DNMT3Ac.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
2g.25240341C>GCA346069792DNMT3Ac.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
2g.25240341C>TCA346069790DNMT3Ac.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
2g.25240341_25240343delinsCATCA1239265168DNMT3Ac.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
2g.25240341_25240368delinsCATGGCCACCACATTCTCAAAGAGCCAGCA1239265169DNMT3Ac.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
2g.25240342A=CA1239265178DNMT3Ac.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=
2g.25240342A>CCA346069794DNMT3Ac.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
2g.25240342A>GCA43698623DNMT3Ac.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
2g.25240342A>TCA346069798DNMT3Ac.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
2g.25240342_25240343delCA767173265DNMT3Ac.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
2g.25240343_25240369delCA1239265177DNMT3Ac.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
2g.25240343T>ACA346069801DNMT3Ac.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
2g.25240343T>CCA1555666DNMT3Ac.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
2g.25240343T>GCA346069803DNMT3Ac.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
2g.25240343T=CA1239265181DNMT3Ac.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=
2g.25240344_25240355delCA2576693902DNMT3Ac.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
2g.25240344G>ACA425181423DNMT3Ac.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
2g.25240344G>CCA425181421DNMT3Ac.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
2g.25240344G>TCA425181422DNMT3Ac.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
2g.25240345dupCA2658171984DNMT3Ac.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
2g.25240345G>ACA346069805DNMT3Ac.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
2g.25240345G>CCA346069807DNMT3Ac.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
2g.25240345G=CA1239265183DNMT3Ac.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=
2g.25240345G>TCA346069809DNMT3Ac.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
2g.25240346C>ACA346069815DNMT3Ac.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
2g.25240346C>GCA346069814DNMT3Ac.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
2g.25240346C>TCA346069813DNMT3Ac.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
2g.25240347delCA645515168DNMT3Ac.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
2g.25240350_25240352delCA645515169DNMT3Ac.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
2g.25240347C>ACA425181424DNMT3Ac.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
2g.25240347C>GCA425181426DNMT3Ac.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
2g.25240347C>TCA425181425DNMT3Ac.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
2g.25240349_25240359delCA2658171999DNMT3Ac.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
2g.25240348delCA2658172004DNMT3Ac.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
2g.25240348A>CCA346069816DNMT3Ac.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
2g.25240348A>GCA346069820DNMT3Ac.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
2g.25240348A>TCA346069818DNMT3Ac.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
2g.25240348dupCA645515170DNMT3Ac.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
2g.25240349_25240369delCA2830782388DNMT3Ac.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
2g.25240349C>ACA346069823DNMT3Ac.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
2g.25240349C>GCA346069825DNMT3Ac.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
2g.25240349C>TCA346069826DNMT3Ac.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
2g.25240350delCA2573332154DNMT3Ac.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
2g.25240349_25240350insTCA425181427DNMT3Ac.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
2g.25240350C>ACA425181428DNMT3Ac.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
2g.25240350C>GCA425181429DNMT3Ac.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
2g.25240350C>TCA425181430DNMT3Ac.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
2g.25240352_25240353dupCA2658172010DNMT3Ac.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
2g.25240352_25240353delCA2576693903DNMT3Ac.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
2g.25240351A>CCA346069829DNMT3Ac.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
2g.25240351A>GCA346069831DNMT3Ac.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
2g.25240351A>TCA346069832DNMT3Ac.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
2g.25240352C>ACA346069835DNMT3Ac.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
2g.25240352C=CA1239265184DNMT3Ac.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=
2g.25240352C>GCA346069838DNMT3Ac.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
2g.25240352C>TCA346069840DNMT3Ac.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
2g.25240352_25240353delinsCACA1239265185DNMT3Ac.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
2g.25240352_25240353insTGCA2658172027DNMT3Ac.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
2g.25240352_25240353insTGAGCA1555667DNMT3Ac.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
2g.25240353delCA1239265188DNMT3Ac.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
2g.25240353A>CCA346069843DNMT3Ac.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
2g.25240353A>GCA425181431DNMT3Ac.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
2g.25240353A>TCA346069845DNMT3Ac.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
2g.25240354T>ACA1555668DNMT3Ac.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
2g.25240354T>CCA346069846DNMT3Ac.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
2g.25240354T>GCA346069849DNMT3Ac.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
2g.25240354T=CA1239265190DNMT3Ac.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=
2g.25240355dupCA2658172037DNMT3Ac.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
2g.25240355delCA1028506307DNMT3Ac.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
2g.25240355T>ACA346069851DNMT3Ac.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
2g.25240355T>CCA346069853DNMT3Ac.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
2g.25240355T>GCA346069855DNMT3Ac.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
2g.25240355_25240375delCA531369115DNMT3Ac.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
2g.25240356C>ACA1555669DNMT3Ac.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
2g.25240356C=CA1239265193DNMT3Ac.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=
2g.25240356C>GCA346069859DNMT3Ac.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
2g.25240356C>TCA425181432DNMT3Ac.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
2g.25240356_25240370delCA2576693905DNMT3Ac.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
2g.25240357T>ACA346069861DNMT3Ac.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
2g.25240357T>CCA346069863DNMT3Ac.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
2g.25240357T>GCA346069865DNMT3Ac.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
2g.25240358C>ACA346069867DNMT3Ac.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
2g.25240358C=CA1239265196DNMT3Ac.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=
2g.25240358C>GCA346069869DNMT3Ac.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
2g.25240358C>TCA346069871DNMT3Ac.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
2g.25240358_25240359dupCA2576693906DNMT3Ac.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
2g.25240358_25240360delinsCAACA1239265195DNMT3Ac.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
2g.25240359A=CA1239265201DNMT3Ac.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=
2g.25240359A>CCA346069877DNMT3Ac.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
2g.25240359A>GCA425181433DNMT3Ac.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
2g.25240359A>TCA346069876DNMT3Ac.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
2g.25240361dupCA531369116DNMT3Ac.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
2g.25240361delCA1555670DNMT3Ac.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
2g.25240360_25240361delCA1555671DNMT3Ac.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
2g.25240359_25240370delCA2576693907DNMT3Ac.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
2g.25240360A=CA1239265205DNMT3Ac.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=
2g.25240360A>CCA43698655DNMT3Ac.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
2g.25240360A>GCA1555672DNMT3Ac.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
2g.25240360A>TCA346069880DNMT3Ac.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
2g.25240361A=CA1239265207DNMT3Ac.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=
2g.25240361A>CCA346069882DNMT3Ac.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
2g.25240361A>GCA346069884DNMT3Ac.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
2g.25240361A>TCA43698672DNMT3Ac.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
2g.25240361_25240362delinsAGCA1239265209DNMT3Ac.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
2g.25240364_25240369delCA2576693908DNMT3Ac.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
2g.25240362delCA1555673DNMT3Ac.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
2g.25240362G>ACA425181434DNMT3Ac.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
2g.25240362G>CCA425181435DNMT3Ac.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
2g.25240362G>TCA425181436DNMT3Ac.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
2g.25240363A=CA1239265214DNMT3Ac.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=
2g.25240363A>CCA1555674DNMT3Ac.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
2g.25240363A>GCA346069893DNMT3Ac.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
2g.25240363A>TCA346069896DNMT3Ac.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
2g.25240364G>ACA346069898DNMT3Ac.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
2g.25240364G>CCA346069901DNMT3Ac.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
2g.25240364G=CA1239265216DNMT3Ac.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=
2g.25240364G>TCA346069902DNMT3Ac.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
2g.25240365C>ACA346069905DNMT3Ac.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
2g.25240365C=CA1239265219DNMT3Ac.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=
2g.25240365C>GCA1555675DNMT3Ac.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
2g.25240365C>TCA346069907DNMT3Ac.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
2g.25240367_25240392dupCA2658172102DNMT3Ac.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
2g.25240366C>ACA346069911DNMT3Ac.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
2g.25240366C=CA1239265223DNMT3Ac.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=
2g.25240366C>GCA1555677DNMT3Ac.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
2g.25240366C>TCA346069914DNMT3Ac.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
2g.25240366_25240368delCA2658172112DNMT3Ac.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
2g.25240366_25240369delinsCAGACA1239265222DNMT3Ac.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
2g.25240367A=CA1239265229DNMT3Ac.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=
2g.25240367A>CCA346069917DNMT3Ac.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
2g.25240367A>GCA346069919DNMT3Ac.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
2g.25240367A>TCA346069921DNMT3Ac.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
2g.25240367_25240368delinsAGCA1239265230DNMT3Ac.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
2g.25240368_25240369delCA2658172136DNMT3Ac.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
2g.25240372_25240374delCA1555676DNMT3Ac.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
2g.25240368delCA1555678DNMT3Ac.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
2g.25240368G>ACA425181437DNMT3Ac.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
2g.25240368G>CCA1555679DNMT3Ac.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
2g.25240368G=CA1239265235DNMT3Ac.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=
2g.25240368G>TCA346069924DNMT3Ac.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
2g.25240370_25240380delCA2658172141DNMT3Ac.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
2g.25240368_25240369insCCA2576693911DNMT3Ac.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
2g.25240368_25240369insTCA2695202285DNMT3Ac.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
2g.25240369A=CA1239265238DNMT3Ac.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=
2g.25240369A>CCA1555680DNMT3Ac.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
2g.25240369A>GCA43698705DNMT3Ac.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
2g.25240369A>TCA346069928DNMT3Ac.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
2g.25240370delCA2658172149DNMT3Ac.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
2g.25240370A=CA1239265242DNMT3Ac.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=
2g.25240370A>CCA43698713DNMT3Ac.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
2g.25240370A>GCA346069943DNMT3Ac.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
2g.25240370A>TCA1555681DNMT3Ac.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
2g.25240371_25240372delCA1028506371DNMT3Ac.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
2g.25240370_25240377delCA2658172159DNMT3Ac.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
2g.25240374_25240424delCA2658172161DNMT3Ac.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
2g.25240370_25240371insCCA2658172182DNMT3Ac.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
2g.25240370_25240371insTCA43698718DNMT3Ac.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
2g.25240371delCA2658172184DNMT3Ac.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
2g.25240371G>ACA425181438DNMT3Ac.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
2g.25240371G>CCA1555682DNMT3Ac.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
2g.25240371G=CA1239265250DNMT3Ac.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=
2g.25240371G>TCA346069947DNMT3Ac.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
2g.25240371_25240372delinsGACA1239265251DNMT3Ac.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
2g.25240378_25240379insTTTGAAGGGGCCA2658172181DNMT3Ac.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
2g.25240371_25240372insTCA2658172189DNMT3Ac.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
2g.25240372A=CA1239265252DNMT3Ac.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=
2g.25240372A>CCA1555683DNMT3Ac.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
2g.25240372A>GCA346069953DNMT3Ac.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
2g.25240372A>TCA346069951DNMT3Ac.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
2g.25240373delCA1028506381DNMT3Ac.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
2g.25240373A=CA1239265255DNMT3Ac.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=
2g.25240373A>CCA346069956DNMT3Ac.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
2g.25240373A>GCA346069958DNMT3Ac.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
2g.25240373A>TCA1555684DNMT3Ac.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
2g.25240374G>ACA425181439DNMT3Ac.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
2g.25240374G>CCA425181440DNMT3Ac.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
2g.25240374G>TCA425181441DNMT3Ac.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
2g.25240377dupCA531369117DNMT3Ac.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
2g.25240377delCA425181442DNMT3Ac.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
2g.25240375G>ACA346069963DNMT3Ac.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
2g.25240375G>CCA346069965DNMT3Ac.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
2g.25240375G>TCA346069968DNMT3Ac.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
2g.25240376_25240379delCA645515174DNMT3Ac.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
2g.25240376G>ACA346069972DNMT3Ac.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
2g.25240376G>CCA346069975DNMT3Ac.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
2g.25240376G>TCA346069978DNMT3Ac.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
2g.25240378_25240396dupCA2658172211DNMT3Ac.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
2g.25240377G>ACA1555685DNMT3Ac.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
2g.25240377G>CCA425181443DNMT3Ac.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
2g.25240377G=CA1239265259DNMT3Ac.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=
2g.25240377G>TCA425181444DNMT3Ac.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
2g.25240378_25240379delCA2573332155DNMT3Ac.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
2g.25240377_25240389dupCA2658172217DNMT3Ac.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
2g.25240380_25240402dupCA2658172220DNMT3Ac.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
2g.25240377_25240378insACA2576693914DNMT3Ac.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
2g.25240378delCA425181445DNMT3Ac.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
2g.25240378C>ACA1555686DNMT3Ac.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
2g.25240378C=CA1239265264DNMT3Ac.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=
2g.25240378C>GCA43698736DNMT3Ac.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
2g.25240378C>TCA1555687DNMT3Ac.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
2g.25240378dupCA2658172227DNMT3Ac.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
2g.25240379_25240380insCGCCCCGCA531369118DNMT3Ac.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
2g.25240379_25240382delCA2576693913DNMT3Ac.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
2g.25240399_25240400insTCTGGCTCGATCATCTCCCTCCTTGGGCCCA2658172226DNMT3Ac.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
2g.25240379delCA2576693916DNMT3Ac.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
2g.25240379G>ACA1555688DNMT3Ac.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
2g.25240379G>CCA1555689DNMT3Ac.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
2g.25240379G=CA1239265265DNMT3Ac.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=
2g.25240379G>TCA346069992DNMT3Ac.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
2g.25240379_25240380dupCA2658172228DNMT3Ac.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
2g.25240379_25240383delCA2658172230DNMT3Ac.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
2g.25240379_25240431dupCA2658172229DNMT3Ac.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
2g.25240380delCA2658172235DNMT3Ac.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
2g.25240380A>CCA346069996DNMT3Ac.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
2g.25240380A>GCA425181446DNMT3Ac.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
2g.25240380A>TCA346069998DNMT3Ac.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
2g.25240380_25240381insAACA2658172236DNMT3Ac.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
2g.25240381T>ACA346070000DNMT3Ac.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
2g.25240381T>CCA346070003DNMT3Ac.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
2g.25240381T>GCA346070006DNMT3Ac.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
2g.25240382C>ACA346070011DNMT3Ac.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
2g.25240382C>GCA346070013DNMT3Ac.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
2g.25240382C>TCA346070015DNMT3Ac.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
2g.25240382dupCA2658172237DNMT3Ac.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
2g.25240383_25240401dupCA2658172238DNMT3Ac.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
2g.25240383A=CA1239265267DNMT3Ac.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=
2g.25240383A>CCA346070023DNMT3Ac.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
2g.25240383A>GCA425181447DNMT3Ac.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
2g.25240383A>TCA346070019DNMT3Ac.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
2g.25240384delCA2658172240DNMT3Ac.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
2g.25240384T>ACA346070026DNMT3Ac.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
2g.25240384T>CCA346070028DNMT3Ac.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
2g.25240384T>GCA346070032DNMT3Ac.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
2g.25240384T=CA1239265269DNMT3Ac.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=
2g.25240384_25240388delCA2658172241DNMT3Ac.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
2g.25240385C>ACA346070036DNMT3Ac.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
2g.25240385C>GCA346070038DNMT3Ac.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
2g.25240385C>TCA346070041DNMT3Ac.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
2g.25240386_25240399dupCA531369119DNMT3Ac.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
2g.25240386T>ACA425181448DNMT3Ac.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
2g.25240386T>CCA425181450DNMT3Ac.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
2g.25240386T>GCA425181449DNMT3Ac.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
2g.25240386_25240387insATCA2658172244DNMT3Ac.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
2g.25240386_25240387insTTGGCA2658172248DNMT3Ac.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
2g.25240387C>ACA346070049DNMT3Ac.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
2g.25240387C>GCA346070043DNMT3Ac.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
2g.25240387C>TCA346070046DNMT3Ac.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
2g.25240389delCA2699054546DNMT3Ac.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
2g.25240388_25240392delCA2699054553DNMT3Ac.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
2g.25240388C>ACA346070052DNMT3Ac.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
2g.25240388C=CA1239265273DNMT3Ac.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=
2g.25240388C>GCA346070055DNMT3Ac.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
2g.25240388C>TCA1555690DNMT3Ac.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
2g.25240389C>ACA346070060DNMT3Ac.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
2g.25240389C=CA1239265275DNMT3Ac.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=
2g.25240389C>GCA346070063DNMT3Ac.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
2g.25240389C>TCA425181451DNMT3Ac.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
2g.25240390_25240391delCA2749204353DNMT3Ac.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
2g.25240390T>ACA346070066DNMT3Ac.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
2g.25240390T>CCA346070072DNMT3Ac.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
2g.25240390T>GCA346070069DNMT3Ac.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
2g.25240391C>ACA346070076DNMT3Ac.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
2g.25240391C=CA1239265276DNMT3Ac.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=
2g.25240391C>GCA346070078DNMT3Ac.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
2g.25240391C>TCA346070083DNMT3Ac.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
2g.25240391_25240392insTGTCCCTCTTGTCACTAACGCCCATGGCCACCACATTCA2658172260DNMT3Ac.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
2g.25240392C>ACA346070085DNMT3Ac.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
2g.25240392C=CA1239265278DNMT3Ac.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=
2g.25240392C>GCA346070088DNMT3Ac.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
2g.25240392C>TCA43698757DNMT3Ac.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
2g.25240393T>ACA346070092DNMT3Ac.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
2g.25240393T>CCA346070093DNMT3Ac.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
2g.25240393T>GCA346070096DNMT3Ac.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
2g.25240394T>ACA346070101DNMT3Ac.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
2g.25240394T>CCA346070104DNMT3Ac.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
2g.25240394T>GCA346070105DNMT3Ac.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
2g.25240394T=CA1239265281DNMT3Ac.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=
2g.25240394_25240395insTACA2658172269DNMT3Ac.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
2g.25240395G>ACA425181452DNMT3Ac.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
2g.25240395G>CCA425181453DNMT3Ac.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
2g.25240395G>TCA425181454DNMT3Ac.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
2g.25240395_25240396delinsAACA645515178DNMT3Ac.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
2g.25240397dupCA2658172265DNMT3Ac.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
2g.25240397delCA645515177DNMT3Ac.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
2g.25240395_25240447dupCA2658172268DNMT3Ac.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
2g.25240396G>ACA1555692DNMT3Ac.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
2g.25240396G>CCA1555691DNMT3Ac.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
2g.25240396G=CA1239265284DNMT3Ac.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=
2g.25240396G>TCA346070106DNMT3Ac.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
2g.25240396_25240401delinsGGCCGCCA1239265286DNMT3Ac.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
2g.25240397G>ACA346070117DNMT3Ac.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
2g.25240397G>CCA346070112DNMT3Ac.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
2g.25240397G=CA1239265288DNMT3Ac.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=
2g.25240397G>TCA346070115DNMT3Ac.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
2g.25240397_25240398delinsGCCA1239265289DNMT3Ac.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
2g.25240399_25240403delCA1239265290DNMT3Ac.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
2g.25240398C>ACA425181455DNMT3Ac.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
2g.25240398C=CA1239265292DNMT3Ac.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=
2g.25240398C>GCA425181456DNMT3Ac.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
2g.25240398C>TCA425181457DNMT3Ac.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
2g.25240399_25240400insCCCCA2658172286DNMT3Ac.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
2g.25240399dupCA2658172288DNMT3Ac.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
2g.25240399delCA1555693DNMT3Ac.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
2g.25240399C>ACA346070123DNMT3Ac.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
2g.25240399C=CA1239265294DNMT3Ac.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=
2g.25240399C>GCA1555695DNMT3Ac.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
2g.25240399C>TCA346070128DNMT3Ac.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
2g.25240402_25240403dupCA1555694DNMT3Ac.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
2g.25240402_25240403delCA2658172294DNMT3Ac.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
2g.25240399_25240400insACA2658172304DNMT3Ac.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
2g.25240399_25240400insTCA2658172306DNMT3Ac.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
2g.25240400delCA2576693919DNMT3Ac.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
2g.25240400G>ACA346070130DNMT3Ac.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
2g.25240400G>CCA346070132DNMT3Ac.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
2g.25240400G>TCA425181458DNMT3Ac.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
2g.25240401_25240412delCA2658172307DNMT3Ac.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
2g.25240401delCA2699054691DNMT3Ac.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
2g.25240401C>ACA425181461DNMT3Ac.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
2g.25240401C=CA1239265296DNMT3Ac.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=
2g.25240401C>GCA425181459DNMT3Ac.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
2g.25240401C>TCA425181460DNMT3Ac.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

Number of alleles fetched