NR_040073.1(MIR181A1HG):n.363+26A>G
|
rs10800598
|
0.73974
|
NR_040073.1(MIR181A1HG):n.363+1456C>T
|
rs10800597
|
0.71965
|
NR_040073.1(MIR181A1HG):n.363+1862C>A
|
rs60639710
|
0.71928
|
NR_040073.1(MIR181A1HG):n.364-18748G>A
|
rs12406470
|
0.47231
|
NC_000001.11:g.198807802C>A
|
rs9660525
|
0.38046
|
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu)
|
rs74315294
|
0.00134
|
NM_022829.6(SLC13A3):c.1016+3A>G
|
rs199961976
|
0.00078
|
NM_000098.3(CPT2):c.680C>T (p.Pro227Leu)
|
rs74315298
|
0.00039
|
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)
|
rs77375493
|
0.00036
|
NM_000542.5(SFTPB):c.361C>G (p.Pro121Ala)
|
rs141905538
|
0.00025
|
NM_000542.5(SFTPB):c.361_362insAA (p.Pro121fs)
|
rs779795223
|
0.00025
|
NM_000098.3(CPT2):c.149C>A (p.Pro50His)
|
rs28936375
|
0.00022
|
NM_000542.5(SFTPB):c.706C>T (p.Arg236Cys)
|
rs137853202
|
0.00016
|
NM_018006.5(TRMU):c.835G>A (p.Val279Met)
|
rs387907022
|
0.00011
|
NM_000551.4(VHL):c.598C>T (p.Arg200Trp)
|
rs28940298
|
0.00010
|
NM_001349206.2(LPIN1):c.1270C>T (p.Arg424Ter)
|
rs119480072
|
0.00007
|
NM_016222.4(DDX41):c.415_418dup (p.Asp140delinsGlyTer)
|
rs762890562
|
0.00007
|
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly)
|
rs28904921
|
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_001375462.1(LPP):c.1354C>T (p.Arg452Ter)
|
rs202115941
|
0.00006
|
NM_002168.4(IDH2):c.419G>A (p.Arg140Gln)
|
rs121913502
|
0.00006
|
NM_020117.11(LARS1):c.3313C>T (p.Arg1105Ter)
|
rs369437593
|
0.00006
|
NM_198994.3(TGM6):c.1550T>G (p.Leu517Trp)
|
rs387907097
|
0.00006
|
NM_000098.3(CPT2):c.98del (p.Gln33fs)
|
rs917744011
|
0.00005
|
NM_001018115.3(FANCD2):c.990-1G>A
|
rs112832879
|
0.00005
|
NM_021930.6(RINT1):c.1333+1G>A
|
rs375350359
|
0.00005
|
NM_000098.3(CPT2):c.1646G>A (p.Gly549Asp)
|
rs186044004
|
0.00004
|
NM_000098.3(CPT2):c.691C>T (p.Arg231Trp)
|
rs373638740
|
0.00004
|
NM_000190.4(HMBS):c.499C>T (p.Arg167Trp)
|
rs118204101
|
0.00004
|
NM_000190.4(HMBS):c.601C>T (p.Arg201Trp)
|
rs118204109
|
0.00004
|
NM_001349206.2(LPIN1):c.2282G>A (p.Arg761His)
|
rs398124543
|
0.00004
|
NM_022552.5(DNMT3A):c.2311C>T (p.Arg771Ter)
|
rs779626155
|
0.00004
|
NM_000098.3(CPT2):c.1511C>T (p.Pro504Leu)
|
rs368311455
|
0.00003
|
NM_000098.3(CPT2):c.1813G>C (p.Val605Leu)
|
rs751557097
|
0.00003
|
NM_000098.3(CPT2):c.886C>T (p.Arg296Ter)
|
rs727503887
|
0.00003
|
NM_000098.3(CPT2):c.887G>A (p.Arg296Gln)
|
rs764849762
|
0.00003
|
NM_001012339.3(DNAJC21):c.544C>T (p.Arg182Ter)
|
rs771063992
|
0.00003
|
NM_020680.4(SCYL1):c.526A>T (p.Lys176Ter)
|
rs535912271
|
0.00003
|
NM_000098.3(CPT2):c.1660C>T (p.Arg554Ter)
|
rs539239516
|
0.00002
|
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter)
|
rs587782545
|
0.00002
|
NM_015909.4(NBAS):c.409C>T (p.Arg137Trp)
|
rs368085185
|
0.00002
|
NM_018006.5(TRMU):c.1102-3C>G
|
rs753039116
|
0.00002
|
NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr)
|
rs74315295
|
0.00001
|
NM_000098.3(CPT2):c.1369A>T (p.Lys457Ter)
|
rs756931329
|
0.00001
|
NM_000098.3(CPT2):c.1666_1667del (p.Leu556fs)
|
rs1557719455
|
0.00001
|
NM_000098.3(CPT2):c.1891C>T (p.Arg631Cys)
|
rs74315293
|
0.00001
|
NM_000098.3(CPT2):c.28_29insAGCAAG (p.Trp10Ter)
|
rs1374482155
|
0.00001
|
NM_000098.3(CPT2):c.370C>T (p.Arg124Ter)
|
rs201065226
|
0.00001
|
NM_000098.3(CPT2):c.452G>A (p.Arg151Gln)
|
rs515726177
|
0.00001
|
NM_000098.3(CPT2):c.481C>T (p.Arg161Trp)
|
rs756839691
|
0.00001
|
NM_000190.4(HMBS):c.163G>T (p.Ala55Ser)
|
rs118204106
|
0.00001
|
NM_000190.4(HMBS):c.346C>T (p.Arg116Trp)
|
rs118204094
|
0.00001
|
NM_000190.4(HMBS):c.517C>T (p.Arg173Trp)
|
rs575222284
|
0.00001
|
NM_000190.4(HMBS):c.754G>A (p.Ala252Thr)
|
rs118204113
|
0.00001
|
NM_000190.4(HMBS):c.91G>A (p.Ala31Thr)
|
rs118204104
|
0.00001
|
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys)
|
rs121912666
|
0.00001
|
NM_001098.3(ACO2):c.76C>T (p.Leu26=)
|
rs1057518832
|
0.00001
|
NM_002074.5(GNB1):c.239T>A (p.Ile80Asn)
|
rs752746786
|
0.00001
|
NM_002485.5(NBN):c.1030C>T (p.Gln344Ter)
|
rs767215758
|
0.00001
|
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter)
|
rs730881864
|
0.00001
|
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp)
|
rs121913529
|
0.00001
|
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys)
|
rs121913499
|
0.00001
|
NM_005896.4(IDH1):c.395G>A (p.Arg132His)
|
rs121913500
|
0.00001
|
NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met)
|
rs121434502
|
0.00001
|
NM_016222.4(DDX41):c.931C>T (p.Arg311Ter)
|
rs899399494
|
0.00001
|
NM_018006.5(TRMU):c.117G>A (p.Trp39Ter)
|
rs1174791046
|
0.00001
|
NM_018006.5(TRMU):c.718C>T (p.Arg240Ter)
|
rs367683258
|
0.00001
|
NM_018006.5(TRMU):c.803del (p.Ala268fs)
|
rs745338284
|
0.00001
|
NM_020680.4(SCYL1):c.314C>T (p.Ala105Val)
|
rs942522644
|
0.00001
|
NM_022552.5(DNMT3A):c.1204C>T (p.Gln402Ter)
|
rs796065342
|
0.00001
|
NM_032638.5(GATA2):c.1081C>T (p.Arg361Cys)
|
rs1426175410
|
0.00001
|
FLT3, INTERNAL TANDEM DUP
|
|
|
MN1-ETV6 fusion
|
|
|
NG_008093.1:g.9237_9238insAluYa59225_9237dup
|
|
|
NM_000051.4(ATM):c.5044G>C (p.Asp1682His)
|
rs121434217
|
|
NM_000051.4(ATM):c.5309C>G (p.Ser1770Ter)
|
rs121434223
|
|
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del)
|
rs587776547
|
|
NM_000098.3(CPT2):c.110_111dup (p.Ser38fs)
|
rs754363068
|
|
NM_000098.3(CPT2):c.1239_1240del (p.Lys414fs)
|
rs397509431
|
|
NM_000098.3(CPT2):c.1444_1447del (p.Thr482fs)
|
|
|
NM_000098.3(CPT2):c.1545_1548del (p.Phe516fs)
|
rs1057517477
|
|
NM_000098.3(CPT2):c.1569_1570del (p.His523fs)
|
rs1572385947
|
|
NM_000098.3(CPT2):c.1784del (p.Pro595fs)
|
rs760255368
|
|
NM_000098.3(CPT2):c.1816_1817del (p.Val606fs)
|
rs908749525
|
|
NM_000098.3(CPT2):c.451C>T (p.Arg151Trp)
|
rs200080591
|
|
NM_000098.3(CPT2):c.534_558delinsT (p.Leu178_Ile186delinsPhe)
|
rs515726173
|
|
NM_000098.3(CPT2):c.63dup (p.Ser22fs)
|
|
|
NM_000098.3(CPT2):c.748_749del (p.Asn250fs)
|
rs1187631754
|
|
NM_000190.4(HMBS):c.100C>A (p.Gln34Lys)
|
rs118204105
|
|
NM_000190.4(HMBS):c.1078_*46del (p.Ala360fs)
|
rs1555206402
|
|
NM_000190.4(HMBS):c.160+5G>C
|
rs1592213590
|
|
NM_000190.4(HMBS):c.174del (p.Thr59fs)
|
rs1565754285
|
|
NM_000190.4(HMBS):c.181dup (p.Asp61fs)
|
rs1565754296
|
|
NM_000190.4(HMBS):c.210+1G>C
|
rs2134859316
|
|
NM_000190.4(HMBS):c.211-1G>A
|
rs1565754452
|
|
NM_000190.4(HMBS):c.211-1G>T
|
rs1565754452
|
|
NM_000190.4(HMBS):c.219_220del (p.Ser75fs)
|
rs1592214498
|
|
NM_000190.4(HMBS):c.266+1G>C
|
rs1565754565
|
|
NM_000190.4(HMBS):c.331G>A (p.Gly111Arg)
|
rs118204107
|
|
NM_000190.4(HMBS):c.400del (p.Thr133_Leu134insTer)
|
rs1057518886
|
|
NM_000190.4(HMBS):c.445C>T (p.Arg149Ter)
|
rs118204120
|
|
NM_000190.4(HMBS):c.446G>A (p.Arg149Gln)
|
rs118204098
|
|
NM_000190.4(HMBS):c.463C>T (p.Gln155Ter)
|
rs118204097
|
|
NM_000190.4(HMBS):c.499-1G>A
|
rs1565756481
|
|
NM_000190.4(HMBS):c.500G>T (p.Arg167Leu)
|
rs118204095
|
|
NM_000190.4(HMBS):c.518G>A (p.Arg173Gln)
|
rs118204096
|
|
NM_000190.4(HMBS):c.518G>C (p.Arg173Pro)
|
|
|
NM_000190.4(HMBS):c.530T>G (p.Leu177Arg)
|
rs118204108
|
|
NM_000190.4(HMBS):c.532G>A (p.Asp178Asn)
|
rs536814318
|
|
NM_000190.4(HMBS):c.593G>A (p.Trp198Ter)
|
rs118204100
|
|
NM_000190.4(HMBS):c.612G>T (p.Gln204His)
|
rs1592217847
|
|
NM_000190.4(HMBS):c.613-1G>A
|
rs771206317
|
|
NM_000190.4(HMBS):c.647G>A (p.Gly216Asp)
|
rs118204116
|
|
NM_000190.4(HMBS):c.667G>A (p.Glu223Lys)
|
rs118204110
|
|
NM_000190.4(HMBS):c.669_698del (p.Glu223_Leu232del)
|
rs1555206128
|
|
NM_000190.4(HMBS):c.730_731del (p.Leu244fs)
|
rs1565757839
|
|
NM_000190.4(HMBS):c.734T>G (p.Leu245Arg)
|
rs118204099
|
|
NM_000190.4(HMBS):c.734_741dup (p.Ile248fs)
|
rs1565757857
|
|
NM_000190.4(HMBS):c.739T>C (p.Cys247Arg)
|
rs118204111
|
|
NM_000190.4(HMBS):c.748G>A (p.Glu250Lys)
|
rs118204112
|
|
NM_000190.4(HMBS):c.755C>T (p.Ala252Val)
|
rs118204114
|
|
NM_000190.4(HMBS):c.766C>A (p.His256Asn)
|
rs118204115
|
|
NM_000190.4(HMBS):c.76C>T (p.Arg26Cys)
|
rs998842815
|
|
NM_000190.4(HMBS):c.771+1G>C
|
rs1565758008
|
|
NM_000190.4(HMBS):c.771G>A (p.Leu257=)
|
rs1555206170
|
|
NM_000190.4(HMBS):c.77G>A (p.Arg26His)
|
rs118204103
|
|
NM_000190.4(HMBS):c.826-2A>T
|
rs1946317952
|
|
NM_000190.4(HMBS):c.847_848del (p.Trp283fs)
|
rs1592220835
|
|
NM_000190.4(HMBS):c.849G>A (p.Trp283Ter)
|
rs118204117
|
|
NM_000190.4(HMBS):c.900del (p.His300fs)
|
rs1565758825
|
|
NM_000190.4(HMBS):c.912+1G>C
|
|
|
NM_000190.4(HMBS):c.913-1G>A
|
rs1946325053
|
|
NM_000190.4(HMBS):c.973C>T (p.Arg325Ter)
|
rs2134885779
|
|
NM_000222.3(KIT):c.2446G>T (p.Asp816Tyr)
|
rs121913506
|
|
NM_000222.3(KIT):c.2446_2447delinsAT (p.Asp816Ile)
|
rs1057519709
|
|
NM_000222.3(KIT):c.2447A>T (p.Asp816Val)
|
rs121913507
|
|
NM_000314.8(PTEN):c.406T>C (p.Cys136Arg)
|
rs786201044
|
|
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer)
|
rs267608150
|
|
NM_000542.5(SFTPB):c.1084-1G>A
|
rs1558572491
|
|
NM_000542.5(SFTPB):c.361delinsGAA (p.Pro121fs)
|
rs35328240
|
|
NM_000542.5(SFTPB):c.365del (p.Leu122fs)
|
|
|
NM_000542.5(SFTPB):c.465G>T (p.Gly155=)
|
rs1553380888
|
|
NM_000546.6(TP53):c.-19_*21del (p.Met1fs)
|
|
|
NM_000546.6(TP53):c.323_329dup (p.Leu111fs)
|
rs1131691004
|
|
NM_000546.6(TP53):c.331del (p.Leu111fs)
|
rs2151039122
|
|
NM_000546.6(TP53):c.449C>T (p.Thr150Ile)
|
rs2151032692
|
|
NM_000546.6(TP53):c.494A>T (p.Gln165Leu)
|
|
|
NM_000546.6(TP53):c.513G>T (p.Glu171Asp)
|
|
|
NM_000546.6(TP53):c.537T>A (p.His179Gln)
|
rs876660821
|
|
NM_000546.6(TP53):c.549A>T (p.Ser183=)
|
|
|
NM_000546.6(TP53):c.576del (p.Gln192fs)
|
|
|
NM_000546.6(TP53):c.636del (p.Arg213fs)
|
rs864309495
|
|
NM_000546.6(TP53):c.710T>A (p.Met237Lys)
|
rs765848205
|
|
NM_000546.6(TP53):c.719G>A (p.Ser240Asn)
|
|
|
NM_000546.6(TP53):c.742C>T (p.Arg248Trp)
|
rs121912651
|
|
NM_000546.6(TP53):c.752T>A (p.Ile251Asn)
|
rs730882027
|
|
NM_000546.6(TP53):c.761T>C (p.Ile254Thr)
|
|
|
NM_000760.4(CSF3R):c.1853C>T (p.Thr618Ile)
|
rs796065343
|
|
NM_001123385.2(BCOR):c.4751del (p.Asn1584fs)
|
rs2146872060
|
|
NM_001195427.2(SRSF2):c.284C>T (p.Pro95Leu)
|
|
|
NM_001283009.2(RTEL1):c.1135+1G>A
|
rs1555903332
|
|
NM_001349206.2(LPIN1):c.1029del (p.Gln344fs)
|
|
|
NM_001349206.2(LPIN1):c.1276C>T (p.Arg426Ter)
|
rs781748056
|
|
NM_001349206.2(LPIN1):c.1549+2T>C
|
rs730880306
|
|
NM_001349206.2(LPIN1):c.1564C>T (p.Gln522Ter)
|
rs1674723338
|
|
NM_001349206.2(LPIN1):c.2509C>T (p.Arg837Ter)
|
rs119480073
|
|
NM_001349206.2(LPIN1):c.643G>T (p.Glu215Ter)
|
rs119480071
|
|
NM_001349206.2(LPIN1):c.942del (p.Pro315fs)
|
rs1572770217
|
|
NM_001413917.1(ETV6):c.1010-5011_1010-5007del
|
|
|
NM_001754.5(RUNX1):c.1036dup (p.Arg346fs)
|
rs1601333612
|
|
NM_001754.5(RUNX1):c.161A>T (p.Glu54Val)
|
rs2058004521
|
|
NM_001754.5(RUNX1):c.267G>A (p.Leu89=)
|
rs2146409992
|
|
NM_001754.5(RUNX1):c.320G>A (p.Arg107His)
|
rs1569084106
|
|
NM_001754.5(RUNX1):c.386dup (p.Val130fs)
|
|
|
NM_001754.5(RUNX1):c.588del (p.Val197fs)
|
rs2057541271
|
|
NM_001987.5(ETV6):c.1046T>C (p.Leu349Pro)
|
rs786205155
|
|
NM_001987.5(ETV6):c.1307_1308insGGG (p.His436delinsGlnGly)
|
rs587776710
|
|
NM_001987.5(ETV6):c.226G>T (p.Glu76Ter)
|
rs121434637
|
|
NM_002049.4(GATA1):c.115_116insGGGGCTTGGATGCAGCAGCTTCCTGCACTGCCCCGAGCACAGCCACCGCTGCAGCTGCGGCCTG (p.Glu39delinsGlyGlyLeuAspAlaAlaAlaSerCysThrAlaProSerThrAlaThrAlaAlaAlaAlaAlaTer)
|
rs2062673859
|
|
NM_002049.4(GATA1):c.142_149dup (p.Ser51fs)
|
rs2062673949
|
|
NM_002049.4(GATA1):c.154_173dup (p.Ala59fs)
|
rs398124628
|
|
NM_002049.4(GATA1):c.159_171dup (p.Ala58fs)
|
rs2062674122
|
|
NM_002049.4(GATA1):c.175_193dup (p.Asp65fs)
|
rs2062674253
|
|
NM_002049.4(GATA1):c.219A>G (p.Pro73=)
|
rs2062674480
|
|
NM_002049.4(GATA1):c.89C>G (p.Ser30Ter)
|
rs1557020021
|
|
NM_002074.5(GNB1):c.227A>G (p.Asp76Gly)
|
rs869312821
|
|
NM_002168.4(IDH2):c.418C>T (p.Arg140Trp)
|
rs267606870
|
|
NM_002168.4(IDH2):c.419G>T (p.Arg140Leu)
|
rs121913502
|
|
NM_002168.4(IDH2):c.515G>A (p.Arg172Lys)
|
rs121913503
|
|
NM_002168.4(IDH2):c.515G>T (p.Arg172Met)
|
rs121913503
|
|
NM_002168.4(IDH2):c.516G>C (p.Arg172Ser)
|
rs1057519736
|
|
NM_002467.6(MYC):c.162G>C (p.Glu54Asp)
|
rs121918684
|
|
NM_002467.6(MYC):c.214C>T (p.Pro72Ser)
|
rs28933407
|
|
NM_002467.6(MYC):c.220C>G (p.Pro74Ala)
|
rs121918685
|
|
NM_002467.6(MYC):c.302A>C (p.Asn101Thr)
|
rs121918683
|
|
NM_002485.5(NBN):c.1397+1del
|
rs1060503467
|
|
NM_002485.5(NBN):c.156_157del (p.Ser53fs)
|
rs767454740
|
|
NM_002485.5(NBN):c.1747C>T (p.Gln583Ter)
|
rs864622143
|
|
NM_002485.5(NBN):c.317dup (p.Arg107fs)
|
rs745355767
|
|
NM_002485.5(NBN):c.698_701del (p.Lys233fs)
|
rs587780100
|
|
NM_002520.7(NPM1):c.860_863dup (p.Trp288fs)
|
rs587776806
|
|
NM_002520.7(NPM1):c.863_864insCATG (p.Trp288fs)
|
rs1554138188
|
|
NM_002520.7(NPM1):c.863_864insCCTG (p.Trp288fs)
|
rs1554138189
|
|
NM_002520.7(NPM1):c.863_864insCGTG (p.Trp288fs)
|
rs1554138188
|
|
NM_002520.7(NPM1):c.864_873delinsTTTAAGGATTCGTC (p.Trp288fs)
|
rs1581263026
|
|
NM_002520.7(NPM1):c.869_875delinsCCCTGGCTAGG (p.Trp290fs)
|
rs1561878500
|
|
NM_002520.7(NPM1):c.875del (p.Lys292fs)
|
rs2113301331
|
|
NM_002520.7(NPM1):c.885A>G (p.Ter295=)
|
rs2113301391
|
|
NM_002524.5(NRAS):c.37G>C (p.Gly13Arg)
|
rs121434595
|
|
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser)
|
rs121918463
|
|
NM_003921.5(BCL10):c.136dup (p.Ile46fs)
|
rs387906351
|
|
NM_004119.3(FLT3):c.1777_1779del (p.Asp593del)
|
rs587776834
|
|
NM_004119.3(FLT3):c.2503G>A (p.Asp835Asn)
|
rs121913488
|
|
NM_004119.3(FLT3):c.2503G>C (p.Asp835His)
|
rs121913488
|
|
NM_004119.3(FLT3):c.2503G>T (p.Asp835Tyr)
|
rs121913488
|
|
NM_004119.3(FLT3):c.2503_2505del (p.Asp835del)
|
rs121913486
|
|
NM_004119.3(FLT3):c.2504A>C (p.Asp835Ala)
|
rs121909646
|
|
NM_004119.3(FLT3):c.2504A>T (p.Asp835Val)
|
rs121909646
|
|
NM_004119.3(FLT3):c.2505T>A (p.Asp835Glu)
|
rs121913487
|
|
NM_004119.3(FLT3):c.2505T>G (p.Asp835Glu)
|
rs121913487
|
|
NM_004119.3(FLT3):c.2506A>C (p.Ile836Leu)
|
rs1057519726
|
|
NM_004119.3(FLT3):c.2508C>G (p.Ile836Met)
|
rs121913232
|
|
NM_004119.3(FLT3):c.2520_2521insGGATCC (p.Ser840_Asn841insGlySer)
|
rs398122514
|
|
NM_004364.5(CEBPA):c.1000G>A (p.Glu334Lys)
|
rs369632687
|
|
NM_004364.5(CEBPA):c.1039G>A (p.Glu347Lys)
|
rs1468313242
|
|
NM_004364.5(CEBPA):c.115_121del (p.Pro39fs)
|
rs587776848
|
|
NM_004364.5(CEBPA):c.119dup (p.Gln41fs)
|
rs1555742295
|
|
NM_004364.5(CEBPA):c.125del (p.Pro42fs)
|
rs2145264339
|
|
NM_004364.5(CEBPA):c.146del (p.Pro49fs)
|
|
|
NM_004364.5(CEBPA):c.148G>T (p.Glu50Ter)
|
rs121912791
|
|
NM_004364.5(CEBPA):c.168C>A (p.Cys56Ter)
|
rs1967195832
|
|
NM_004364.5(CEBPA):c.174_184del (p.Glu59fs)
|
|
|
NM_004364.5(CEBPA):c.175G>T (p.Glu59Ter)
|
rs1210600080
|
|
NM_004364.5(CEBPA):c.179dup (p.Ser61fs)
|
|
|
NM_004364.5(CEBPA):c.180_183del (p.Ile62fs)
|
|
|
NM_004364.5(CEBPA):c.186_190del (p.Asp63fs)
|
rs1060502121
|
|
NM_004364.5(CEBPA):c.195_198delinsACG (p.Ser65fs)
|
rs1600023950
|
|
NM_004364.5(CEBPA):c.206del (p.Asp69fs)
|
rs1967194243
|
|
NM_004364.5(CEBPA):c.209del (p.Pro70fs)
|
rs2145263762
|
|
NM_004364.5(CEBPA):c.211_214dup (p.Ala72fs)
|
rs587776849
|
|
NM_004364.5(CEBPA):c.247del (p.Gln83fs)
|
rs1967192886
|
|
NM_004364.5(CEBPA):c.251A>T (p.His84Leu)
|
rs28931590
|
|
NM_004364.5(CEBPA):c.292del (p.Thr98fs)
|
|
|
NM_004364.5(CEBPA):c.314A>T (p.Asp105Val)
|
rs2145263100
|
|
NM_004364.5(CEBPA):c.320del (p.Asp107fs)
|
rs1600023511
|
|
NM_004364.5(CEBPA):c.324C>A (p.Tyr108Ter)
|
|
|
NM_004364.5(CEBPA):c.324C>G (p.Tyr108Ter)
|
rs1555742221
|
|
NM_004364.5(CEBPA):c.332_339del (p.Ala111fs)
|
rs1555742213
|
|
NM_004364.5(CEBPA):c.442G>T (p.Glu148Ter)
|
rs1388478228
|
|
NM_004364.5(CEBPA):c.60dup (p.Ser21fs)
|
rs2145264820
|
|
NM_004364.5(CEBPA):c.68del (p.Pro23fs)
|
rs137852728
|
|
NM_004364.5(CEBPA):c.68dup (p.His24fs)
|
rs137852728
|
|
NM_004364.5(CEBPA):c.69del (p.His24fs)
|
rs2145264731
|
|
NM_004364.5(CEBPA):c.925_951dup (p.Glu309_Leu317dup)
|
rs1555741967
|
|
NM_004364.5(CEBPA):c.935_991dup (p.Gln312_Gln330dup)
|
rs1555741948
|
|
NM_004972.4(JAK2):c.1821G>C (p.Lys607Asn)
|
rs121912472
|
|
NM_004972.4(JAK2):c.2047A>G (p.Arg683Gly)
|
rs1057519721
|
|
NM_004972.4(JAK2):c.2048G>C (p.Arg683Thr)
|
rs1057519722
|
|
NM_004972.4(JAK2):c.2049A>C (p.Arg683Ser)
|
rs1057519723
|
|
NM_004972.4(JAK2):c.2049A>T (p.Arg683Ser)
|
rs1057519723
|
|
NM_004985.5(KRAS):c.101C>G (p.Pro34Arg)
|
rs104894366
|
|
NM_004985.5(KRAS):c.458A>T (p.Asp153Val)
|
rs104894360
|
|
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg)
|
rs727503110
|
|
NM_005236.3(ERCC4):c.1484_1488del (p.Thr495fs)
|
rs397509400
|
|
NM_005551.5(KLK2):c.748C>T (p.Arg250Trp)
|
|
|
NM_005896.4(IDH1):c.394C>A (p.Arg132Ser)
|
rs121913499
|
|
NM_005896.4(IDH1):c.394C>G (p.Arg132Gly)
|
rs121913499
|
|
NM_005896.4(IDH1):c.395G>C (p.Arg132Pro)
|
rs121913500
|
|
NM_005896.4(IDH1):c.395G>T (p.Arg132Leu)
|
rs121913500
|
|
NM_006060.6(IKZF1):c.247C>T (p.Arg83Ter)
|
rs2153469119
|
|
NM_006267.5(RANBP2):c.1966A>G (p.Ile656Val)
|
rs121434504
|
|
NM_012433.4(SF3B1):c.1998G>C (p.Lys666Asn)
|
rs377023736
|
|
NM_015909.4(NBAS):c.2950del (p.Ile984fs)
|
rs776797592
|
|
NM_015909.4(NBAS):c.4370_4371delinsGA (p.Tyr1457Ter)
|
rs2148225587
|
|
NM_015909.4(NBAS):c.500_501del (p.Phe167fs)
|
|
|
NM_015909.4(NBAS):c.5356C>T (p.Arg1786Ter)
|
|
|
NM_015909.4(NBAS):c.5547del (p.Trp1850fs)
|
|
|
NM_015909.4(NBAS):c.686dup (p.Ser230fs)
|
rs759315662
|
|
NM_016222.3:c.[711G>T;712C>A]
|
|
|
NM_016222.4(DDX41):c.719delinsCG (p.Ile240fs)
|
rs1761157695
|
|
NM_016734.3(PAX5):c.239C>G (p.Pro80Arg)
|
|
|
NM_017617.5(NOTCH1):c.4775T>G (p.Phe1592Cys)
|
rs796065341
|
|
NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup)
|
rs753112330
|
|
NM_018006.5(TRMU):c.229T>C (p.Tyr77His)
|
rs118203990
|
|
NM_018006.5(TRMU):c.2T>A (p.Met1Lys)
|
rs118203992
|
|
NM_018006.5(TRMU):c.706-1G>A
|
rs778799889
|
|
NM_018006.5(TRMU):c.815G>A (p.Gly272Asp)
|
rs118203991
|
|
NM_018006.5(TRMU):c.954dup (p.Ala319fs)
|
rs863224242
|
|
NM_020680.4(SCYL1):c.1386+1G>A
|
|
|
NM_020680.4(SCYL1):c.1386+1G>T
|
rs201581270
|
|
NM_020680.4(SCYL1):c.1433A>G (p.Asp478Gly)
|
rs1554969925
|
|
NM_020680.4(SCYL1):c.169C>T (p.Gln57Ter)
|
rs1554967681
|
|
NM_020680.4(SCYL1):c.1882C>T (p.Gln628Ter)
|
rs1554970375
|
|
NM_020680.4(SCYL1):c.451C>T (p.Arg151Ter)
|
rs1320473430
|
|
NM_021930.6(RINT1):c.1109T>C (p.Leu370Pro)
|
rs1562849964
|
|
NM_022148.4(CRLF2):c.695T>G (p.Phe232Cys)
|
rs1057519743
|
|
NM_022455.5(NSD1):c.1854del (p.Lys618_Val619insTer)
|
rs1562206791
|
|
NM_022455.5(NSD1):c.2362C>T (p.Arg788Ter)
|
rs1057520339
|
|
NM_022455.5(NSD1):c.5332C>T (p.Arg1778Ter)
|
rs794727176
|
|
NM_022455.5(NSD1):c.5965C>T (p.Gln1989Ter)
|
rs587784170
|
|
NM_022552.5(DNMT3A):c.2644C>A (p.Arg882Ser)
|
rs377577594
|
|
NM_022552.5(DNMT3A):c.2644C>G (p.Arg882Gly)
|
rs377577594
|
|
NM_022552.5(DNMT3A):c.2644C>T (p.Arg882Cys)
|
rs377577594
|
|
NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His)
|
rs147001633
|
|
NM_022552.5(DNMT3A):c.2645G>C (p.Arg882Pro)
|
rs147001633
|
|
NM_022552.5(DNMT3A):c.2645G>T (p.Arg882Leu)
|
rs147001633
|
|
NM_022829.6(SLC13A3):c.1642G>A (p.Gly548Ser)
|
rs1568904872
|
|
NM_022829.6(SLC13A3):c.761C>A (p.Ala254Asp)
|
rs1568927501
|
|
NM_024675.3(PALB2):c.1675_1676inv (p.Gln559Ter)
|
|
|
NM_030930.4(UNC93B1):c.1038_1041del (p.Phe346fs)
|
rs759883057
|
|
NM_030930.4(UNC93B1):c.286G>T (p.Glu96Ter)
|
rs753436679
|
|
NM_030930.4(UNC93B1):c.341_351del (p.Gly114fs)
|
|
|
NM_030930.4(UNC93B1):c.668_671del (p.Ile223fs)
|
|
|
NM_030930.4(UNC93B1):c.702C>A (p.Cys234Ter)
|
rs772974041
|
|
NM_033360.4(KRAS):c.27_29dup (p.Gly10dup)
|
rs606231202
|
|
NM_138761.4(BAX):c.115_121del (p.Gly39fs)
|
rs398122840
|
|
NM_138761.4(BAX):c.199G>A (p.Gly67Arg)
|
rs398122513
|
|
NM_145693.2(LPIN1):c.2295-?_2513+?del
|
|
|
NM_198253.3(TERT):c.1891C>T (p.Arg631Trp)
|
rs1194223999
|
|
SFTPB, 1-BP DEL, 457C
|
|
|
Single allele
|
|
|
inv(16)(p13.3q24.3)
|
|
|
t(11;12)(p15;p13)
|
|
|
t(11;17)(q23;q12-q21)
|
|
|
t(11;17)(q23;q25)
|
|
|
t(16;16)(p13.3;q24.3)
|
|
|