NM_000215.4(JAK3):c.394C>A (p.Pro132Thr)
|
rs3212723
|
0.02676
|
NM_001754.5(RUNX1):c.167T>C (p.Leu56Ser)
|
rs111527738
|
0.01206
|
NM_000215.4(JAK3):c.2164G>A (p.Val722Ile)
|
rs3213409
|
0.00743
|
NM_022829.6(SLC13A3):c.1016+3A>G
|
rs199961976
|
0.00078
|
NM_006267.5(RANBP2):c.7499C>T (p.Thr2500Ile)
|
rs140280672
|
0.00061
|
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)
|
rs77375493
|
0.00036
|
NM_001982.4(ERBB3):c.4009G>A (p.Ala1337Thr)
|
rs755855285
|
0.00014
|
NM_001377.3(DYNC2H1):c.5793G>C (p.Leu1931Phe)
|
rs185504536
|
0.00013
|
NM_018006.5(TRMU):c.835G>A (p.Val279Met)
|
rs387907022
|
0.00011
|
NM_020117.11(LARS1):c.2770-2A>G
|
rs139456270
|
0.00009
|
NM_001349206.2(LPIN1):c.1807-2A>G
|
rs533651991
|
0.00007
|
NM_000098.3(CPT2):c.200C>G (p.Ala67Gly)
|
rs201966320
|
0.00006
|
NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys)
|
rs121918528
|
0.00006
|
NM_000190.4(HMBS):c.500G>A (p.Arg167Gln)
|
rs118204095
|
0.00006
|
NM_022552.5(DNMT3A):c.1903C>T (p.Arg635Trp)
|
rs144689354
|
0.00006
|
NM_016222.4(DDX41):c.142C>T (p.Gln48Ter)
|
rs377745714
|
0.00005
|
NM_012433.4(SF3B1):c.2098A>G (p.Lys700Glu)
|
rs559063155
|
0.00004
|
NM_002485.5(NBN):c.897-2A>T
|
rs864622090
|
0.00003
|
NM_003265.3(TLR3):c.2599C>T (p.Arg867Ter)
|
rs745646456
|
0.00003
|
NM_004119.3(FLT3):c.1715A>G (p.Tyr572Cys)
|
rs121913491
|
0.00003
|
NM_012433.4(SF3B1):c.1997A>G (p.Lys666Arg)
|
rs374250186
|
0.00003
|
NM_024426.6(WT1):c.151del (p.Ala51fs)
|
rs776155094
|
0.00003
|
NM_000098.3(CPT2):c.1414C>T (p.Gln472Ter)
|
rs754386565
|
0.00002
|
NM_000215.4(JAK3):c.1503G>T (p.Gln501His)
|
rs201283129
|
0.00002
|
NM_000546.6(TP53):c.743G>A (p.Arg248Gln)
|
rs11540652
|
0.00002
|
NM_018006.5(TRMU):c.1102-3C>G
|
rs753039116
|
0.00002
|
NM_018006.5(TRMU):c.249-2A>G
|
rs768299416
|
0.00002
|
NM_018006.5(TRMU):c.680G>C (p.Arg227Thr)
|
rs764622793
|
0.00002
|
NM_000098.3(CPT2):c.1459G>A (p.Glu487Lys)
|
rs778743524
|
0.00001
|
NM_000098.3(CPT2):c.1507C>T (p.Arg503Cys)
|
rs74315296
|
0.00001
|
NM_000098.3(CPT2):c.341-2A>G
|
rs752468216
|
0.00001
|
NM_000098.3(CPT2):c.452G>A (p.Arg151Gln)
|
rs515726177
|
0.00001
|
NM_000098.3(CPT2):c.520G>A (p.Glu174Lys)
|
rs28936674
|
0.00001
|
NM_000098.3(CPT2):c.75del (p.Ser26fs)
|
rs1057517493
|
0.00001
|
NM_000098.3(CPT2):c.896_906dup (p.Arg303fs)
|
rs766004699
|
0.00001
|
NM_000190.4(HMBS):c.583C>T (p.Arg195Cys)
|
rs34413634
|
0.00001
|
NM_000255.4(MMUT):c.2206C>T (p.Leu736Phe)
|
rs753461919
|
0.00001
|
NM_000546.6(TP53):c.374C>T (p.Thr125Met)
|
rs786201057
|
0.00001
|
NM_000546.6(TP53):c.523C>T (p.Arg175Cys)
|
rs138729528
|
0.00001
|
NM_000546.6(TP53):c.535C>T (p.His179Tyr)
|
rs587780070
|
0.00001
|
NM_000546.6(TP53):c.536A>G (p.His179Arg)
|
rs1057519991
|
0.00001
|
NM_000546.6(TP53):c.578A>C (p.His193Pro)
|
rs786201838
|
0.00001
|
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys)
|
rs121912666
|
0.00001
|
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr)
|
rs730882005
|
0.00001
|
NM_000546.6(TP53):c.725G>A (p.Cys242Tyr)
|
rs121912655
|
0.00001
|
NM_000546.6(TP53):c.817C>T (p.Arg273Cys)
|
rs121913343
|
0.00001
|
NM_000546.6(TP53):c.824G>A (p.Cys275Tyr)
|
rs863224451
|
0.00001
|
NM_000546.6(TP53):c.841G>A (p.Asp281Asn)
|
rs764146326
|
0.00001
|
NM_002468.5(MYD88):c.755T>C (p.Leu252Pro)
|
rs387907272
|
0.00001
|
NM_002485.5(NBN):c.265C>T (p.Arg89Ter)
|
rs1057516320
|
0.00001
|
NM_002485.5(NBN):c.481-2A>T
|
rs751567476
|
0.00001
|
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp)
|
rs121913237
|
0.00001
|
NM_004119.3(FLT3):c.2525A>G (p.Tyr842Cys)
|
rs376588714
|
0.00001
|
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp)
|
rs121913529
|
0.00001
|
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp)
|
rs112445441
|
0.00001
|
NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met)
|
rs121434502
|
0.00001
|
NM_006758.3(U2AF1):c.101C>A (p.Ser34Tyr)
|
rs371769427
|
0.00001
|
NM_007215.4(POLG2):c.544C>T (p.Arg182Trp)
|
rs886037843
|
0.00001
|
NM_012433.4(SF3B1):c.1873C>G (p.Arg625Gly)
|
rs775623976
|
0.00001
|
NM_012433.4(SF3B1):c.1996A>C (p.Lys666Gln)
|
rs754688962
|
0.00001
|
NM_012433.4(SF3B1):c.2225G>A (p.Gly742Asp)
|
rs755415626
|
0.00001
|
NM_015909.4(NBAS):c.1213C>T (p.Arg405Ter)
|
rs376113678
|
0.00001
|
NM_015909.4(NBAS):c.6909T>A (p.Cys2303Ter)
|
rs778338208
|
0.00001
|
NC_000002.11:g.(15330528_15358896)_(15449372_15467873)del
|
|
|
NC_000002.11:g.(15378811_15415607)_(15567919_15601324)del
|
|
|
NC_000002.11:g.(15432891_15448339)_(15449372_15467873)del
|
|
|
NC_000002.11:g.(15468437_15470721)_(15496541_15506703)dup
|
|
|
NC_000002.11:g.(15470890_15492115)_(15493835_15496426)del
|
|
|
NC_000002.11:g.(15567919_15601324)_(15618414_15629017)del
|
|
|
NC_000014.9:g.95696766_96390792dup
|
|
|
NM_000033.4(ABCD1):c.1866-1G>C
|
rs1557055311
|
|
NM_000077.5(CDKN2A):c.151-6_151delinsC
|
|
|
NM_000077.5(CDKN2A):c.174_185delinsGG (p.Val59fs)
|
|
|
NM_000098.3(CPT2):c.1046dup (p.Asn349fs)
|
rs1057517515
|
|
NM_000098.3(CPT2):c.1068dup (p.Asn357Ter)
|
|
|
NM_000098.3(CPT2):c.106dup (p.Gln36fs)
|
|
|
NM_000098.3(CPT2):c.1143_1144del (p.Arg382fs)
|
|
|
NM_000098.3(CPT2):c.1198_1199del (p.Gln400fs)
|
|
|
NM_000098.3(CPT2):c.1282dup (p.Thr428fs)
|
|
|
NM_000098.3(CPT2):c.1323_1326del (p.Thr442fs)
|
rs1557718075
|
|
NM_000098.3(CPT2):c.1324dup (p.Thr442fs)
|
rs1131691330
|
|
NM_000098.3(CPT2):c.1437C>G (p.Tyr479Ter)
|
|
|
NM_000098.3(CPT2):c.1446_1447del (p.Val483fs)
|
rs1553169787
|
|
NM_000098.3(CPT2):c.1455_1458dup (p.Glu487fs)
|
|
|
NM_000098.3(CPT2):c.1476_1482dup (p.Lys495fs)
|
|
|
NM_000098.3(CPT2):c.1806del (p.Phe602fs)
|
|
|
NM_000098.3(CPT2):c.1810C>T (p.Pro604Ser)
|
rs1645443275
|
|
NM_000098.3(CPT2):c.1816_1817del (p.Val606fs)
|
rs908749525
|
|
NM_000098.3(CPT2):c.1822G>C (p.Asp608His)
|
rs780286639
|
|
NM_000098.3(CPT2):c.1836del (p.Tyr614fs)
|
|
|
NM_000098.3(CPT2):c.1929del (p.Ala643_Leu644insTer)
|
rs1553170029
|
|
NM_000098.3(CPT2):c.192C>A (p.Tyr64Ter)
|
|
|
NM_000098.3(CPT2):c.1932dup (p.Glu645fs)
|
rs1645445189
|
|
NM_000098.3(CPT2):c.213_214del (p.Leu72fs)
|
rs751253358
|
|
NM_000098.3(CPT2):c.257del (p.Ser86fs)
|
|
|
NM_000098.3(CPT2):c.350_354del (p.Phe117fs)
|
rs778895906
|
|
NM_000098.3(CPT2):c.670del (p.Thr224fs)
|
rs762366252
|
|
NM_000098.3(CPT2):c.725_726del (p.His242fs)
|
rs1238901632
|
|
NM_000098.3(CPT2):c.725dup (p.His242fs)
|
|
|
NM_000098.3(CPT2):c.852del (p.Glu285fs)
|
rs1057517729
|
|
NM_000098.3(CPT2):c.989dup (p.Ile332fs)
|
rs1553169716
|
|
NM_000121.4(EPOR):c.1316G>A (p.Trp439Ter)
|
rs121917830
|
|
NM_000190.4(HMBS):c.104C>T (p.Thr35Met)
|
rs974712040
|
|
NM_000190.4(HMBS):c.181G>T (p.Asp61Tyr)
|
rs2134859037
|
|
NM_000190.4(HMBS):c.275T>C (p.Leu92Pro)
|
rs1946187914
|
|
NM_000190.4(HMBS):c.331G>A (p.Gly111Arg)
|
rs118204107
|
|
NM_000190.4(HMBS):c.364G>C (p.Ala122Pro)
|
rs143984293
|
|
NM_000190.4(HMBS):c.532G>A (p.Asp178Asn)
|
rs536814318
|
|
NM_000190.4(HMBS):c.580C>T (p.Gln194Ter)
|
|
|
NM_000190.4(HMBS):c.605dup (p.Gln204fs)
|
|
|
NM_000190.4(HMBS):c.667G>A (p.Glu223Lys)
|
rs118204110
|
|
NM_000190.4(HMBS):c.815del (p.Lys272fs)
|
|
|
NM_000190.4(HMBS):c.826-2A>T
|
rs1946317952
|
|
NM_000190.4(HMBS):c.874C>T (p.Gln292Ter)
|
rs1592220915
|
|
NM_000190.4(HMBS):c.891dup (p.Thr298fs)
|
rs1565758795
|
|
NM_000215.4(JAK3):c.1503G>C (p.Gln501His)
|
rs201283129
|
|
NM_000215.4(JAK3):c.1715C>T (p.Ala572Val)
|
rs121913504
|
|
NM_000215.4(JAK3):c.1970G>A (p.Arg657Gln)
|
rs758959409
|
|
NM_000215.4(JAK3):c.260T>C (p.Ile87Thr)
|
rs1057519770
|
|
NM_000222.3(KIT):c.2466T>A (p.Asn822Lys)
|
rs121913514
|
|
NM_000222.3(KIT):c.2466T>G (p.Asn822Lys)
|
rs121913514
|
|
NM_000459.5(TEK):c.2228G>C (p.Gly743Ala)
|
rs202131936
|
|
NM_000542.5(SFTPB):c.324dup (p.Met109fs)
|
|
|
NM_000542.5(SFTPB):c.479del (p.Leu160fs)
|
|
|
NM_000542.5(SFTPB):c.730G>A (p.Gly244Ser)
|
rs1001637675
|
|
NM_000546.6(TP53):c.332T>A (p.Leu111Gln)
|
rs1057519997
|
|
NM_000546.6(TP53):c.332T>C (p.Leu111Pro)
|
rs1057519997
|
|
NM_000546.6(TP53):c.332T>G (p.Leu111Arg)
|
rs1057519997
|
|
NM_000546.6(TP53):c.373A>C (p.Thr125Pro)
|
rs1057520003
|
|
NM_000546.6(TP53):c.374C>A (p.Thr125Lys)
|
rs786201057
|
|
NM_000546.6(TP53):c.374C>G (p.Thr125Arg)
|
rs786201057
|
|
NM_000546.6(TP53):c.421T>A (p.Cys141Ser)
|
rs1057519978
|
|
NM_000546.6(TP53):c.421T>C (p.Cys141Arg)
|
rs1057519978
|
|
NM_000546.6(TP53):c.421T>G (p.Cys141Gly)
|
rs1057519978
|
|
NM_000546.6(TP53):c.422G>A (p.Cys141Tyr)
|
rs587781288
|
|
NM_000546.6(TP53):c.422G>T (p.Cys141Phe)
|
rs587781288
|
|
NM_000546.6(TP53):c.423C>G (p.Cys141Trp)
|
rs1057519977
|
|
NM_000546.6(TP53):c.518T>C (p.Val173Ala)
|
rs1057519747
|
|
NM_000546.6(TP53):c.518T>G (p.Val173Gly)
|
rs1057519747
|
|
NM_000546.6(TP53):c.523C>G (p.Arg175Gly)
|
rs138729528
|
|
NM_000546.6(TP53):c.526T>A (p.Cys176Ser)
|
rs967461896
|
|
NM_000546.6(TP53):c.526T>C (p.Cys176Arg)
|
rs967461896
|
|
NM_000546.6(TP53):c.526T>G (p.Cys176Gly)
|
rs967461896
|
|
NM_000546.6(TP53):c.527G>A (p.Cys176Tyr)
|
rs786202962
|
|
NM_000546.6(TP53):c.527G>T (p.Cys176Phe)
|
rs786202962
|
|
NM_000546.6(TP53):c.528C>G (p.Cys176Trp)
|
rs1057519980
|
|
NM_000546.6(TP53):c.535C>A (p.His179Asn)
|
rs587780070
|
|
NM_000546.6(TP53):c.535C>G (p.His179Asp)
|
rs587780070
|
|
NM_000546.6(TP53):c.536A>C (p.His179Pro)
|
rs1057519991
|
|
NM_000546.6(TP53):c.536A>T (p.His179Leu)
|
rs1057519991
|
|
NM_000546.6(TP53):c.537T>G (p.His179Gln)
|
rs876660821
|
|
NM_000546.6(TP53):c.577C>A (p.His193Asn)
|
rs876658468
|
|
NM_000546.6(TP53):c.577C>G (p.His193Asp)
|
rs876658468
|
|
NM_000546.6(TP53):c.577C>T (p.His193Tyr)
|
rs876658468
|
|
NM_000546.6(TP53):c.578A>G (p.His193Arg)
|
rs786201838
|
|
NM_000546.6(TP53):c.578A>T (p.His193Leu)
|
rs786201838
|
|
NM_000546.6(TP53):c.583A>T (p.Ile195Phe)
|
rs942158624
|
|
NM_000546.6(TP53):c.584T>A (p.Ile195Asn)
|
rs760043106
|
|
NM_000546.6(TP53):c.584T>C (p.Ile195Thr)
|
rs760043106
|
|
NM_000546.6(TP53):c.584T>G (p.Ile195Ser)
|
rs760043106
|
|
NM_000546.6(TP53):c.585C>G (p.Ile195Met)
|
rs1057519994
|
|
NM_000546.6(TP53):c.641A>G (p.His214Arg)
|
rs1057519992
|
|
NM_000546.6(TP53):c.641A>T (p.His214Leu)
|
rs1057519992
|
|
NM_000546.6(TP53):c.643A>G (p.Ser215Gly)
|
rs886039484
|
|
NM_000546.6(TP53):c.644G>A (p.Ser215Asn)
|
rs587782177
|
|
NM_000546.6(TP53):c.644G>T (p.Ser215Ile)
|
rs587782177
|
|
NM_000546.6(TP53):c.645T>G (p.Ser215Arg)
|
rs1057520001
|
|
NM_000546.6(TP53):c.712T>C (p.Cys238Arg)
|
rs1057519981
|
|
NM_000546.6(TP53):c.712T>G (p.Cys238Gly)
|
rs1057519981
|
|
NM_000546.6(TP53):c.713G>C (p.Cys238Ser)
|
rs730882005
|
|
NM_000546.6(TP53):c.713G>T (p.Cys238Phe)
|
rs730882005
|
|
NM_000546.6(TP53):c.724T>A (p.Cys242Ser)
|
rs1057519982
|
|
NM_000546.6(TP53):c.724T>G (p.Cys242Gly)
|
rs1057519982
|
|
NM_000546.6(TP53):c.725G>T (p.Cys242Phe)
|
rs121912655
|
|
NM_000546.6(TP53):c.726C>G (p.Cys242Trp)
|
rs375874539
|
|
NM_000546.6(TP53):c.742C>G (p.Arg248Gly)
|
rs121912651
|
|
NM_000546.6(TP53):c.742C>T (p.Arg248Trp)
|
rs121912651
|
|
NM_000546.6(TP53):c.743G>C (p.Arg248Pro)
|
rs11540652
|
|
NM_000546.6(TP53):c.743G>T (p.Arg248Leu)
|
rs11540652
|
|
NM_000546.6(TP53):c.745A>T (p.Arg249Trp)
|
rs587782082
|
|
NM_000546.6(TP53):c.746G>C (p.Arg249Thr)
|
rs587782329
|
|
NM_000546.6(TP53):c.763A>T (p.Ile255Phe)
|
rs1057519995
|
|
NM_000546.6(TP53):c.764T>A (p.Ile255Asn)
|
rs876659675
|
|
NM_000546.6(TP53):c.764T>C (p.Ile255Thr)
|
rs876659675
|
|
NM_000546.6(TP53):c.764T>G (p.Ile255Ser)
|
rs876659675
|
|
NM_000546.6(TP53):c.796G>C (p.Gly266Arg)
|
rs1057519990
|
|
NM_000546.6(TP53):c.797G>A (p.Gly266Glu)
|
rs193920774
|
|
NM_000546.6(TP53):c.797G>T (p.Gly266Val)
|
rs193920774
|
|
NM_000546.6(TP53):c.800G>C (p.Arg267Pro)
|
rs587780075
|
|
NM_000546.6(TP53):c.801G>C (p.Arg267=)
|
|
|
NM_000546.6(TP53):c.806G>T (p.Ser269Ile)
|
|
|
NM_000546.6(TP53):c.817C>A (p.Arg273Ser)
|
rs121913343
|
|
NM_000546.6(TP53):c.818G>A (p.Arg273His)
|
rs28934576
|
|
NM_000546.6(TP53):c.818G>C (p.Arg273Pro)
|
rs28934576
|
|
NM_000546.6(TP53):c.818G>T (p.Arg273Leu)
|
rs28934576
|
|
NM_000546.6(TP53):c.823T>C (p.Cys275Arg)
|
rs1057519983
|
|
NM_000546.6(TP53):c.824G>C (p.Cys275Ser)
|
rs863224451
|
|
NM_000546.6(TP53):c.824G>T (p.Cys275Phe)
|
rs863224451
|
|
NM_000546.6(TP53):c.838A>G (p.Arg280Gly)
|
rs753660142
|
|
NM_000546.6(TP53):c.839G>A (p.Arg280Lys)
|
rs121912660
|
|
NM_000546.6(TP53):c.839G>C (p.Arg280Thr)
|
rs121912660
|
|
NM_000546.6(TP53):c.839G>T (p.Arg280Ile)
|
rs121912660
|
|
NM_000546.6(TP53):c.841G>C (p.Asp281His)
|
rs764146326
|
|
NM_000546.6(TP53):c.841G>T (p.Asp281Tyr)
|
rs764146326
|
|
NM_000546.6(TP53):c.842A>C (p.Asp281Ala)
|
rs587781525
|
|
NM_000546.6(TP53):c.842A>G (p.Asp281Gly)
|
rs587781525
|
|
NM_000546.6(TP53):c.842A>T (p.Asp281Val)
|
rs587781525
|
|
NM_000546.6(TP53):c.843C>G (p.Asp281Glu)
|
rs1057519984
|
|
NM_000546.6(TP53):c.856G>A (p.Glu286Lys)
|
rs786201059
|
|
NM_000546.6(TP53):c.856G>C (p.Glu286Gln)
|
rs786201059
|
|
NM_000546.6(TP53):c.857A>C (p.Glu286Ala)
|
rs1057519985
|
|
NM_000546.6(TP53):c.857A>G (p.Glu286Gly)
|
rs1057519985
|
|
NM_000546.6(TP53):c.857A>T (p.Glu286Val)
|
rs1057519985
|
|
NM_000546.6(TP53):c.977A>T (p.Glu326Val)
|
|
|
NM_000760.4(CSF3R):c.1853C>T (p.Thr618Ile)
|
rs796065343
|
|
NM_001042492.3(NF1):c.6921+3A>G
|
rs1085307885
|
|
NM_001195427.2(SRSF2):c.284C>G (p.Pro95Arg)
|
rs751713049
|
|
NM_001349206.2(LPIN1):c.2057_2075dup (p.Gly693fs)
|
rs1572931008
|
|
NM_001349206.2(LPIN1):c.942del (p.Pro315fs)
|
rs1572770217
|
|
NM_001349798.2(FBXW7):c.1393C>G (p.Arg465Gly)
|
rs867384286
|
|
NM_001349798.2(FBXW7):c.1393C>T (p.Arg465Cys)
|
rs867384286
|
|
NM_001349798.2(FBXW7):c.1394G>A (p.Arg465His)
|
rs1057519895
|
|
NM_001349798.2(FBXW7):c.1394G>C (p.Arg465Pro)
|
rs1057519895
|
|
NM_001349798.2(FBXW7):c.1394G>T (p.Arg465Leu)
|
rs1057519895
|
|
NM_001349798.2(FBXW7):c.1513C>A (p.Arg505Ser)
|
rs149680468
|
|
NM_001349798.2(FBXW7):c.1513C>G (p.Arg505Gly)
|
rs149680468
|
|
NM_001349798.2(FBXW7):c.1513C>T (p.Arg505Cys)
|
rs149680468
|
|
NM_001349798.2(FBXW7):c.1514G>A (p.Arg505His)
|
rs1057519896
|
|
NM_001349798.2(FBXW7):c.1514G>T (p.Arg505Leu)
|
rs1057519896
|
|
NM_001377.3(DYNC2H1):c.9157C>T (p.Arg3053Ter)
|
rs1485345396
|
|
NM_001754.5(RUNX1):c.1219_1221delinsGGGATCGTTCGGA (p.Tyr407fs)
|
rs2145875208
|
|
NM_001754.5(RUNX1):c.164C>A (p.Ala55Glu)
|
rs1473182680
|
|
NM_001754.5(RUNX1):c.292del (p.Leu98fs)
|
rs1569084170
|
|
NM_001754.5(RUNX1):c.422C>A (p.Ser141Ter)
|
|
|
NM_001754.5(RUNX1):c.484A>G (p.Arg162Gly)
|
rs1057519751
|
|
NM_001754.5(RUNX1):c.485G>A (p.Arg162Lys)
|
rs1057519750
|
|
NM_001754.5(RUNX1):c.486G>C (p.Arg162Ser)
|
rs1057519749
|
|
NM_001754.5(RUNX1):c.486G>T (p.Arg162Ser)
|
rs1057519749
|
|
NM_001754.5(RUNX1):c.508+2T>C
|
rs1601515707
|
|
NM_001754.5(RUNX1):c.601C>T (p.Arg201Ter)
|
rs1057519748
|
|
NM_002074.5(GNB1):c.814G>A (p.Gly272Arg)
|
|
|
NM_002168.4(IDH2):c.514A>G (p.Arg172Gly)
|
rs1057519906
|
|
NM_002168.4(IDH2):c.514A>T (p.Arg172Trp)
|
rs1057519906
|
|
NM_002185.5(IL7R):c.553A>T (p.Ser185Cys)
|
rs1057519759
|
|
NM_002227.4(JAK1):c.1901C>A (p.Ala634Asp)
|
rs869312953
|
|
NM_002227.4(JAK1):c.1937C>T (p.Ser646Phe)
|
rs151047872
|
|
NM_002227.4(JAK1):c.1972G>T (p.Val658Phe)
|
rs1057519753
|
|
NM_002227.4(JAK1):c.2347C>T (p.Leu783Phe)
|
rs1655079234
|
|
NM_002485.5(NBN):c.1106C>G (p.Ser369Ter)
|
rs2129744741
|
|
NM_002485.5(NBN):c.1483_1484delinsA (p.Pro495fs)
|
rs764884516
|
|
NM_002485.5(NBN):c.156_157del (p.Ser53fs)
|
rs767454740
|
|
NM_002485.5(NBN):c.1648_1651del (p.Lys550fs)
|
rs766044684
|
|
NM_002485.5(NBN):c.211_212insGA (p.Asn71fs)
|
rs762664474
|
|
NM_002485.5(NBN):c.591_603delinsTTG (p.Pro198fs)
|
rs1554564297
|
|
NM_002520.7(NPM1):c.862_863insCATG (p.Trp288fs)
|
rs1057519744
|
|
NM_002520.7(NPM1):c.862_863insCCTG (p.Trp288fs)
|
rs1057519744
|
|
NM_002520.7(NPM1):c.862_863insTCAG (p.Trp288fs)
|
rs1057519744
|
|
NM_002520.7(NPM1):c.862_863insTCTG (p.Trp288fs)
|
rs1057519744
|
|
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys)
|
rs121913254
|
|
NM_002524.5(NRAS):c.182A>C (p.Gln61Pro)
|
rs11554290
|
|
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg)
|
rs11554290
|
|
NM_002524.5(NRAS):c.182A>T (p.Gln61Leu)
|
rs11554290
|
|
NM_002524.5(NRAS):c.183A>C (p.Gln61His)
|
rs121913255
|
|
NM_002524.5(NRAS):c.183A>T (p.Gln61His)
|
rs121913255
|
|
NM_002524.5(NRAS):c.34G>A (p.Gly12Ser)
|
rs121913250
|
|
NM_002524.5(NRAS):c.34G>C (p.Gly12Arg)
|
rs121913250
|
|
NM_002524.5(NRAS):c.34G>T (p.Gly12Cys)
|
rs121913250
|
|
NM_002524.5(NRAS):c.35G>C (p.Gly12Ala)
|
rs121913237
|
|
NM_002524.5(NRAS):c.35G>T (p.Gly12Val)
|
rs121913237
|
|
NM_002524.5(NRAS):c.37G>C (p.Gly13Arg)
|
rs121434595
|
|
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp)
|
rs121434596
|
|
NM_002524.5(NRAS):c.38G>T (p.Gly13Val)
|
rs121434596
|
|
NM_002661.5(PLCG2):c.1993C>T (p.Arg665Trp)
|
rs1057519831
|
|
NM_002661.5(PLCG2):c.2535A>C (p.Leu845Phe)
|
rs1057519832
|
|
NM_002661.5(PLCG2):c.2535A>T (p.Leu845Phe)
|
rs1057519832
|
|
NM_002834.5(PTPN11):c.1232C>T (p.Thr411Met)
|
rs121918467
|
|
NM_002834.5(PTPN11):c.214G>A (p.Ala72Thr)
|
rs121918453
|
|
NM_002834.5(PTPN11):c.215C>A (p.Ala72Asp)
|
rs121918454
|
|
NM_002834.5(PTPN11):c.215C>T (p.Ala72Val)
|
rs121918454
|
|
NM_003400.4(XPO1):c.1711G>A (p.Glu571Lys)
|
rs1057520009
|
|
NM_003400.4(XPO1):c.1712A>C (p.Glu571Ala)
|
rs1057520010
|
|
NM_003400.4(XPO1):c.1712A>T (p.Glu571Val)
|
rs1057520010
|
|
NM_004119.3(FLT3):c.1736T>C (p.Val579Ala)
|
rs1057520022
|
|
NM_004119.3(FLT3):c.1771T>G (p.Tyr591Asp)
|
rs1057520043
|
|
NM_004119.3(FLT3):c.1772A>G (p.Tyr591Cys)
|
rs1057520024
|
|
NM_004119.3(FLT3):c.1775T>C (p.Val592Ala)
|
rs1057520025
|
|
NM_004119.3(FLT3):c.1780T>C (p.Phe594Leu)
|
rs1057520021
|
|
NM_004119.3(FLT3):c.1855G>T (p.Gly619Cys)
|
rs1057519769
|
|
NM_004119.3(FLT3):c.1952A>G (p.Asp651Gly)
|
rs1057519768
|
|
NM_004119.3(FLT3):c.1987A>C (p.Lys663Gln)
|
rs1057520026
|
|
NM_004119.3(FLT3):c.2026A>G (p.Asn676Asp)
|
rs1057519767
|
|
NM_004119.3(FLT3):c.2028C>A (p.Asn676Lys)
|
rs1057519766
|
|
NM_004119.3(FLT3):c.2028C>G (p.Asn676Lys)
|
rs1057519766
|
|
NM_004119.3(FLT3):c.2059A>T (p.Ile687Phe)
|
rs1057519765
|
|
NM_004119.3(FLT3):c.2073T>A (p.Phe691Leu)
|
rs1057519764
|
|
NM_004119.3(FLT3):c.2073T>G (p.Phe691Leu)
|
rs1057519764
|
|
NM_004119.3(FLT3):c.2503_2504delinsTT (p.Asp835Phe)
|
rs1057519763
|
|
NM_004119.3(FLT3):c.2503_2505del (p.Asp835del)
|
rs121913486
|
|
NM_004119.3(FLT3):c.2506A>G (p.Ile836Val)
|
rs1057519726
|
|
NM_004119.3(FLT3):c.2506A>T (p.Ile836Phe)
|
rs1057519726
|
|
NM_004119.3(FLT3):c.2507T>G (p.Ile836Ser)
|
rs1057520023
|
|
NM_004119.3(FLT3):c.2508_2510del (p.Ile836del)
|
rs121913490
|
|
NM_004119.3(FLT3):c.2516A>G (p.Asp839Gly)
|
rs991132188
|
|
NM_004119.3(FLT3):c.2521A>C (p.Asn841His)
|
rs772061268
|
|
NM_004119.3(FLT3):c.2523C>A (p.Asn841Lys)
|
rs749281035
|
|
NM_004119.3(FLT3):c.2524T>C (p.Tyr842His)
|
rs1057519762
|
|
NM_004119.3(FLT3):c.2533A>G (p.Arg845Gly)
|
|
|
NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu)
|
rs121913348
|
|
NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn)
|
rs397516896
|
|
NM_004333.6(BRAF):c.1780G>C (p.Asp594His)
|
rs397516896
|
|
NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly)
|
rs121913338
|
|
NM_004333.6(BRAF):c.1801A>G (p.Lys601Glu)
|
rs121913364
|
|
NM_004333.6(BRAF):c.1802A>C (p.Lys601Thr)
|
rs397507484
|
|
NM_004333.6(BRAF):c.1803A>C (p.Lys601Asn)
|
rs121913365
|
|
NM_004364.5(CEBPA):c.1043G>C (p.Ser348Thr)
|
rs2145258173
|
|
NM_004364.5(CEBPA):c.296GCG[7] (p.Gly104dup)
|
rs780345232
|
|
NM_004364.5(CEBPA):c.324C>G (p.Tyr108Ter)
|
rs1555742221
|
|
NM_004364.5(CEBPA):c.334_336del (p.Pro112del)
|
|
|
NM_004364.5(CEBPA):c.426del (p.Arg142fs)
|
|
|
NM_004364.5(CEBPA):c.546GCC[8] (p.Pro189dup)
|
rs746430067
|
|
NM_004364.5(CEBPA):c.890G>C (p.Arg297Pro)
|
rs1600021258
|
|
NM_004364.5(CEBPA):c.918_919insGCGCTGCTTGGCCTTGTCGCAGAC (p.Arg306_Asn307insAlaLeuLeuGlyLeuValAlaAsp)
|
|
|
NM_004364.5(CEBPA):c.926_932delinsT (p.Glu309_Gln311delinsVal)
|
|
|
NM_004364.5(CEBPA):c.928_945dup (p.Leu315_Glu316insThrGlnGlnLysValLeu)
|
rs2145258824
|
|
NM_004364.5(CEBPA):c.931CAG[3] (p.Gln312_Lys313insGln)
|
|
|
NM_004364.5(CEBPA):c.936G>A (p.Gln312=)
|
rs1248876880
|
|
NM_004364.5(CEBPA):c.943C>A (p.Leu315Met)
|
rs2145258835
|
|
NM_004364.5(CEBPA):c.946_947insGGA (p.Glu316delinsGlyLys)
|
|
|
NM_004364.5(CEBPA):c.956G>T (p.Ser319Ile)
|
rs2145258726
|
|
NM_004985.5(KRAS):c.183A>C (p.Gln61His)
|
rs17851045
|
|
NM_004985.5(KRAS):c.183A>T (p.Gln61His)
|
rs17851045
|
|
NM_004985.5(KRAS):c.35G>T (p.Gly12Val)
|
rs121913529
|
|
NM_005157.6(ABL1):c.757T>C (p.Tyr253His)
|
rs121913461
|
|
NM_005157.6(ABL1):c.944C>T (p.Thr315Ile)
|
rs121913459
|
|
NM_005343.4(HRAS):c.181C>G (p.Gln61Glu)
|
rs28933406
|
|
NM_005343.4(HRAS):c.182A>C (p.Gln61Pro)
|
rs121913233
|
|
NM_005343.4(HRAS):c.182A>T (p.Gln61Leu)
|
rs121913233
|
|
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)
|
rs104894229
|
|
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys)
|
rs104894229
|
|
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala)
|
rs104894230
|
|
NM_005343.4(HRAS):c.37G>C (p.Gly13Arg)
|
rs104894228
|
|
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys)
|
rs104894228
|
|
NM_005343.4(HRAS):c.38G>C (p.Gly13Ala)
|
rs104894226
|
|
NM_005343.4(HRAS):c.38G>T (p.Gly13Val)
|
rs104894226
|
|
NM_005343.4(HRAS):c.436G>A (p.Ala146Thr)
|
rs104894231
|
|
NM_005343.4(HRAS):c.436G>C (p.Ala146Pro)
|
rs104894231
|
|
NM_005343.4(HRAS):c.437C>T (p.Ala146Val)
|
rs121917759
|
|
NM_006060.6(IKZF1):c.271A>T (p.Lys91Ter)
|
|
|
NM_006060.6(IKZF1):c.336_337insGA (p.Pro113fs)
|
|
|
NM_006060.6(IKZF1):c.436_438delinsGGGCTCCCTAA (p.Gln146fs)
|
|
|
NM_006060.6(IKZF1):c.450C>A (p.Cys150Ter)
|
|
|
NM_006060.6(IKZF1):c.475A>T (p.Asn159Tyr)
|
|
|
NM_006060.6(IKZF1):c.530T>C (p.Leu177Pro)
|
rs2153477847
|
|
NM_006265.3(RAD21):c.9C>A (p.Tyr3Ter)
|
rs758626942
|
|
NM_006267.5(RANBP2):c.5249C>G (p.Pro1750Arg)
|
rs1060499624
|
|
NM_006545.5(NPRL2):c.79-1G>T
|
rs2109368530
|
|
NM_006565.4(CTCF):c.1502_1503dup (p.Tyr502fs)
|
rs2052291685
|
|
NM_006565.4(CTCF):c.1640_1650delinsT (p.Asp547fs)
|
rs2052320698
|
|
NM_006758.3(U2AF1):c.101C>T (p.Ser34Phe)
|
rs371769427
|
|
NM_006758.3(U2AF1):c.470A>C (p.Gln157Pro)
|
rs371246226
|
|
NM_006758.3(U2AF1):c.470A>G (p.Gln157Arg)
|
rs371246226
|
|
NM_006842.3(SF3B2):c.1997A>C (p.His666Pro)
|
rs1057519959
|
|
NM_006842.3(SF3B2):c.2099A>G (p.Glu700Gly)
|
rs1057519960
|
|
NM_012433.4(SF3B1):c.1873C>T (p.Arg625Cys)
|
rs775623976
|
|
NM_012433.4(SF3B1):c.1874G>A (p.Arg625His)
|
rs1057519961
|
|
NM_012433.4(SF3B1):c.1996A>G (p.Lys666Glu)
|
rs754688962
|
|
NM_012433.4(SF3B1):c.1997A>C (p.Lys666Thr)
|
rs374250186
|
|
NM_012433.4(SF3B1):c.1998G>C (p.Lys666Asn)
|
rs377023736
|
|
NM_012433.4(SF3B1):c.1998G>T (p.Lys666Asn)
|
rs377023736
|
|
NM_012433.4(SF3B1):c.2098A>C (p.Lys700Gln)
|
rs559063155
|
|
NM_012433.4(SF3B1):c.2098A>T (p.Lys700Ter)
|
rs559063155
|
|
NM_012433.4(SF3B1):c.2099A>C (p.Lys700Thr)
|
rs1057519756
|
|
NM_012433.4(SF3B1):c.2099A>G (p.Lys700Arg)
|
rs1057519756
|
|
NM_012433.4(SF3B1):c.2099A>T (p.Lys700Ile)
|
rs1057519756
|
|
NM_012433.4(SF3B1):c.2100A>C (p.Lys700Asn)
|
rs1057519755
|
|
NM_012433.4(SF3B1):c.2100A>T (p.Lys700Asn)
|
rs1057519755
|
|
NM_014159.7(SETD2):c.1321C>T (p.Arg441Ter)
|
rs1293916143
|
|
NM_014159.7(SETD2):c.3918G>A (p.Trp1306Ter)
|
rs2043042281
|
|
NM_015355.4(SUZ12):c.1150_1151del (p.Leu385fs)
|
rs1909527513
|
|
NM_015909.4(NBAS):c.1A>T (p.Met1Leu)
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rs368516200
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NM_015909.4(NBAS):c.2764-1G>C
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NM_015909.4(NBAS):c.4114C>T (p.Gln1372Ter)
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NM_015909.4(NBAS):c.4461+2T>C
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NM_015909.4(NBAS):c.4520del (p.Leu1507fs)
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NM_015909.4(NBAS):c.4698_4741del (p.Ser1567fs)
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NM_015909.4(NBAS):c.4838_4839del (p.Val1613fs)
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NM_015909.4(NBAS):c.6877del (p.Leu2293fs)
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rs761634052
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NM_016222.4(DDX41):c.1586_1587del (p.Thr529fs)
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rs866179648
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NM_016734.3(PAX5):c.1073G>A (p.Trp358Ter)
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NM_016734.3(PAX5):c.1074del (p.Ser357_Trp358insTer)
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NM_016734.3(PAX5):c.134_147del (p.Ala45fs)
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NM_016734.3(PAX5):c.239C>G (p.Pro80Arg)
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NM_016734.3(PAX5):c.263dup (p.Val90fs)
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NM_016734.3(PAX5):c.388C>A (p.Pro130Thr)
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NM_016734.3(PAX5):c.401C>G (p.Ser134Cys)
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NM_016734.3(PAX5):c.46+1G>A
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NM_016734.3(PAX5):c.583_584insCGGGGGAGCAA (p.Asn195fs)
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NM_016734.3(PAX5):c.613G>T (p.Glu205Ter)
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NM_016734.3(PAX5):c.77T>G (p.Val26Gly)
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NM_016734.3(PAX5):c.963del (p.Ala322fs)
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rs780753361
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NM_016734.3(PAX5):c.963dup (p.Ala322fs)
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NM_016734.3(PAX5):c.967G>T (p.Gly323Ter)
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NM_018006.5(TRMU):c.1019-1G>A
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rs773484808
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NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup)
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rs753112330
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NM_018006.5(TRMU):c.1099C>T (p.Gln367Ter)
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NM_018006.5(TRMU):c.1258_1259dup (p.Leu420fs)
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rs2147124401
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NM_018006.5(TRMU):c.333dup (p.His112fs)
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rs756600903
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NM_018006.5(TRMU):c.356-2_356-1del
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rs2147053913
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NM_018006.5(TRMU):c.652-2A>G
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NM_018006.5(TRMU):c.653G>T (p.Ser218Ile)
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rs1601977105
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NM_018006.5(TRMU):c.711dup (p.Gln238fs)
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NM_018006.5(TRMU):c.758T>C (p.Leu253Pro)
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rs766314948
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NM_018006.5(TRMU):c.773-1G>C
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NM_018006.5(TRMU):c.873+1G>C
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NM_018006.5(TRMU):c.87C>G (p.Tyr29Ter)
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rs769668643
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NM_018006.5(TRMU):c.880del (p.Arg294fs)
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rs1490906786
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NM_018006.5(TRMU):c.882del (p.Thr295fs)
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NM_020117.11(LARS1):c.1755G>A (p.Trp585Ter)
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NM_020117.11(LARS1):c.661C>T (p.Gln221Ter)
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NM_020680.4(SCYL1):c.1386+1G>T
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rs201581270
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NM_020680.4(SCYL1):c.1412C>T (p.Ala471Val)
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rs1554969894
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NM_020680.4(SCYL1):c.1591_1610del (p.Arg531fs)
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NM_022455.5(NSD1):c.4378+1G>A
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rs587784115
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NM_022552.5(DNMT3A):c.1035_1045del (p.Met345fs)
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rs1573338559
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NM_022552.5(DNMT3A):c.1676G>A (p.Cys559Tyr)
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rs1313738991
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NM_022552.5(DNMT3A):c.2525A>G (p.Gln842Arg)
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rs771174392
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NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His)
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rs147001633
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NM_022552.5(DNMT3A):c.920C>T (p.Pro307Leu)
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rs759380437
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NM_022829.6(SLC13A3):c.1478C>T (p.Pro493Leu)
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NM_023110.3(FGFR1):c.1966A>G (p.Lys656Glu)
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rs869320694
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NM_023110.3(FGFR1):c.1968G>C (p.Lys656Asn)
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rs1057519897
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NM_024426.6(WT1):c.1157_1158insTGTACGGT (p.Ala387fs)
|
rs1057519745
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NM_030930.4(UNC93B1):c.1345_1363+52del
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NM_030930.4(UNC93B1):c.781+1G>A
|
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NM_032638.5(GATA2):c.1061C>T (p.Thr354Met)
|
rs387906631
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NM_032638.5(GATA2):c.1192C>T (p.Arg398Trp)
|
rs387906629
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NM_032638.5(GATA2):c.1322_1325dup (p.His442fs)
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rs2107667819
|
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NM_033360.4(KRAS):c.355G>A (p.Asp119Asn)
|
rs730880471
|
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NM_198253.3(TERT):c.1620C>G (p.Ile540Met)
|
rs797046041
|
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NM_198253.3(TERT):c.336dup (p.Glu113fs)
|
rs1060502990
|
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Single allele
|
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