NM_006206.6(PDGFRA):c.1432T>C (p.Ser478Pro)
|
rs35597368
|
0.15258
|
NM_003200.5(TCF3):c.1291G>A (p.Gly431Ser)
|
rs1052692
|
0.08952
|
NM_006206.6(PDGFRA):c.2323+1120C>T
|
rs2291591
|
0.08547
|
NM_003200.5(TCF3):c.1475C>T (p.Ala492Val)
|
rs2074888
|
0.02845
|
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_007194.4(CHEK2):c.470T>C (p.Ile157Thr)
|
rs17879961
|
0.00434
|
NM_000551.4(VHL):c.74C>T (p.Pro25Leu)
|
rs35460768
|
0.00261
|
NM_001530.4(HIF1A):c.1264G>T (p.Asp422Tyr)
|
rs149348765
|
0.00218
|
NM_003200.5(TCF3):c.1422C>A (p.Asp474Glu)
|
rs537417919
|
0.00061
|
NM_005896.4(IDH1):c.565A>G (p.Ile189Val)
|
rs62193615
|
0.00054
|
NM_001370259.2(MEN1):c.*470A>G
|
rs778272737
|
0.00048
|
NM_000551.4(VHL):c.241C>T (p.Pro81Ser)
|
rs104893829
|
0.00039
|
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)
|
rs77375493
|
0.00036
|
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)
|
rs121434629
|
0.00018
|
NM_005373.3(MPL):c.79+2T>A
|
rs146249964
|
0.00018
|
NM_001982.4(ERBB3):c.4009G>A (p.Ala1337Thr)
|
rs755855285
|
0.00014
|
NM_007194.4(CHEK2):c.319+2T>A
|
rs587782401
|
0.00009
|
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)
|
rs28909982
|
0.00009
|
NM_022124.6(CDH23):c.1205C>T (p.Pro402Leu)
|
rs373168635
|
0.00009
|
NM_022124.6(CDH23):c.6050-15G>A
|
rs373838930
|
0.00006
|
NM_022124.6(CDH23):c.7362G>A (p.Thr2454=)
|
rs370983472
|
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_207122.2(EXT2):c.1945C>T (p.Arg649Ter)
|
rs765648513
|
0.00004
|
NM_000551.4(VHL):c.628C>T (p.Arg210Trp)
|
rs774380450
|
0.00003
|
NM_001370259.2(MEN1):c.*412G>A
|
rs972128957
|
0.00003
|
NM_004119.3(FLT3):c.1715A>G (p.Tyr572Cys)
|
rs121913491
|
0.00003
|
NM_004260.4(RECQL4):c.1717C>T (p.Gln573Ter)
|
rs1483085748
|
0.00003
|
NM_004525.3(LRP2):c.13753C>T (p.Arg4585Ter)
|
rs202057289
|
0.00003
|
NM_004752.4(GCM2):c.187G>A (p.Gly63Ser)
|
rs104893960
|
0.00003
|
NM_012433.4(SF3B1):c.1997A>G (p.Lys666Arg)
|
rs374250186
|
0.00003
|
NM_022124.6(CDH23):c.8920G>T (p.Glu2974Ter)
|
rs1344509500
|
0.00003
|
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_005188.4(CBL):c.1259G>A (p.Arg420Gln)
|
rs267606708
|
0.00002
|
NM_005373.3(MPL):c.460T>C (p.Trp154Arg)
|
rs758428763
|
0.00002
|
NM_022124.6(CDH23):c.1515-12G>A
|
rs369396703
|
0.00002
|
NM_022124.6(CDH23):c.2959G>A (p.Asp987Asn)
|
rs770665588
|
0.00002
|
NM_022124.6(CDH23):c.5311C>T (p.Arg1771Ter)
|
rs750027965
|
0.00002
|
NM_022124.6(CDH23):c.6085C>T (p.Arg2029Trp)
|
rs750880909
|
0.00002
|
NM_207122.2(EXT2):c.1506G>A (p.Trp502Ter)
|
rs753973135
|
0.00002
|
NM_000127.3(EXT1):c.452C>A (p.Ala151Glu)
|
rs1385688129
|
0.00001
|
NM_000388.4(CASR):c.2405A>G (p.Asn802Ser)
|
rs140022350
|
0.00001
|
NM_000546.6(TP53):c.374C>T (p.Thr125Met)
|
rs786201057
|
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.817C>T (p.Arg273Cys)
|
rs121913343
|
0.00001
|
NM_000546.6(TP53):c.824G>A (p.Cys275Tyr)
|
rs863224451
|
0.00001
|
NM_000551.4(VHL):c.538A>G (p.Ile180Val)
|
rs377715747
|
0.00001
|
NM_001042492.3(NF1):c.278G>A (p.Cys93Tyr)
|
rs199474728
|
0.00001
|
NM_001042492.3(NF1):c.574C>T (p.Arg192Ter)
|
rs397514641
|
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_005373.3(MPL):c.1309-1G>T
|
rs1243113655
|
0.00001
|
NM_005373.3(MPL):c.1431G>A (p.Trp477Ter)
|
rs1169744090
|
0.00001
|
NM_005373.3(MPL):c.1566-1G>A
|
rs1570474015
|
0.00001
|
NM_005373.3(MPL):c.311T>C (p.Phe104Ser)
|
rs1196161699
|
0.00001
|
NM_005373.3(MPL):c.981-1G>C
|
rs769297582
|
0.00001
|
NM_005896.4(IDH1):c.395G>A (p.Arg132His)
|
rs121913500
|
0.00001
|
NM_006758.3(U2AF1):c.101C>A (p.Ser34Tyr)
|
rs371769427
|
0.00001
|
NM_022124.6(CDH23):c.1752+1G>A
|
rs1347367555
|
0.00001
|
NM_022124.6(CDH23):c.4206+1G>A
|
rs1204500829
|
0.00001
|
NM_022124.6(CDH23):c.5584G>A (p.Glu1862Lys)
|
rs773004408
|
0.00001
|
NM_022124.6(CDH23):c.5712G>A (p.Thr1904=)
|
rs397517342
|
0.00001
|
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser)
|
rs183431253
|
0.00001
|
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu)
|
rs397517349
|
0.00001
|
NM_022124.6(CDH23):c.7145G>A (p.Arg2382Gln)
|
rs759439688
|
0.00001
|
NM_022124.6(CDH23):c.7899C>G (p.Tyr2633Ter)
|
rs1375264465
|
0.00001
|
NM_022124.6(CDH23):c.805C>T (p.Arg269Trp)
|
rs936479651
|
0.00001
|
NM_022124.6(CDH23):c.8146del (p.Asp2716fs)
|
rs1564804195
|
0.00001
|
NM_207122.2(EXT2):c.1305+2T>C
|
rs202153611
|
0.00001
|
NM_207122.2(EXT2):c.863A>G (p.Asn288Ser)
|
rs745738318
|
0.00001
|
NC_000008.10:g.(?_118831895)_(118834856_?)del
|
|
|
NC_000014.9:g.95696766_96390792dup
|
|
|
NM_000121.4(EPOR):c.1316G>A (p.Trp439Ter)
|
rs121917830
|
|
NM_000127.3(EXT1):c.1021A>T (p.Arg341Trp)
|
rs1554580149
|
|
NM_000127.3(EXT1):c.1038A>C (p.Arg346Ser)
|
|
|
NM_000127.3(EXT1):c.1057-3C>G
|
|
|
NM_000127.3(EXT1):c.1064_1065delinsAT (p.Cys355Tyr)
|
|
|
NM_000127.3(EXT1):c.1070C>G (p.Pro357Arg)
|
rs1131691337
|
|
NM_000127.3(EXT1):c.1091G>A (p.Trp364Ter)
|
|
|
NM_000127.3(EXT1):c.1165-2A>G
|
|
|
NM_000127.3(EXT1):c.1315_1337dup (p.Asn446_Lys447insHisValThrValTer)
|
rs1563571296
|
|
NM_000127.3(EXT1):c.1417+2dup
|
|
|
NM_000127.3(EXT1):c.1702_1703dup (p.Val569fs)
|
|
|
NM_000127.3(EXT1):c.1723-2A>T
|
rs1823255835
|
|
NM_000127.3(EXT1):c.1880A>G (p.His627Arg)
|
|
|
NM_000127.3(EXT1):c.1884-3C>G
|
rs2129694265
|
|
NM_000127.3(EXT1):c.398del (p.Asn133fs)
|
|
|
NM_000127.3(EXT1):c.444del (p.Ser149fs)
|
rs1182900059
|
|
NM_000127.3(EXT1):c.458T>C (p.Leu153Pro)
|
rs1817879832
|
|
NM_000127.3(EXT1):c.568_570del (p.His190del)
|
rs1817877188
|
|
NM_000127.3(EXT1):c.572T>C (p.Leu191Ser)
|
rs1563659467
|
|
NM_000127.3(EXT1):c.608A>C (p.Tyr203Ser)
|
rs1817876107
|
|
NM_000127.3(EXT1):c.608A>G (p.Tyr203Cys)
|
|
|
NM_000127.3(EXT1):c.611_614dup (p.Glu205fs)
|
rs2130042673
|
|
NM_000127.3(EXT1):c.624del (p.Phe209fs)
|
rs2130042609
|
|
NM_000127.3(EXT1):c.659G>A (p.Ser220Asn)
|
|
|
NM_000127.3(EXT1):c.70G>T (p.Gly24Ter)
|
rs1817893036
|
|
NM_000127.3(EXT1):c.934T>C (p.Cys312Arg)
|
rs1817867776
|
|
NM_000127.3(EXT1):c.936T>A (p.Cys312Ter)
|
rs2130041053
|
|
NM_000127.3(EXT1):c.976del (p.Glu326fs)
|
|
|
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys)
|
rs121913485
|
|
NM_000142.5(FGFR3):c.1657G>A (p.Val553Met)
|
rs199544087
|
|
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.1675G>A (p.Val559Ile)
|
rs121913520
|
|
NM_000222.3(KIT):c.2466T>A (p.Asn822Lys)
|
rs121913514
|
|
NM_000222.3(KIT):c.2466T>G (p.Asn822Lys)
|
rs121913514
|
|
NM_000314.4(PTEN):c.-380_-378GGC[5]
|
|
|
NM_000314.8(PTEN):c.-511G>A
|
rs12573787
|
|
NM_000388.4(CASR):c.101T>C (p.Leu34Pro)
|
rs1559955362
|
|
NM_000388.4(CASR):c.190A>G (p.Asn64Asp)
|
rs2107627423
|
|
NM_000388.4(CASR):c.205C>A (p.Arg69Ser)
|
|
|
NM_000388.4(CASR):c.2449G>A (p.Val817Ile)
|
rs1057518933
|
|
NM_000388.4(CASR):c.2506G>T (p.Val836Leu)
|
rs2107650629
|
|
NM_000388.4(CASR):c.379G>A (p.Glu127Lys)
|
rs2074565202
|
|
NM_000388.4(CASR):c.413C>T (p.Thr138Met)
|
rs121909263
|
|
NM_000388.4(CASR):c.416T>C (p.Ile139Thr)
|
rs1060502860
|
|
NM_000388.4(CASR):c.493-2A>C
|
rs1576857818
|
|
NM_000388.4(CASR):c.653A>G (p.Tyr218Cys)
|
rs2074624616
|
|
NM_000400.4(ERCC2):c.1361TCA[2] (p.Ile456del)
|
rs750123656
|
|
NM_000459.5(TEK):c.2228G>C (p.Gly743Ala)
|
rs202131936
|
|
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.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.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.722C>T (p.Ser241Phe)
|
rs28934573
|
|
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.773A>G (p.Glu258Gly)
|
rs1060501201
|
|
NM_000546.6(TP53):c.799C>T (p.Arg267Trp)
|
rs55832599
|
|
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.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.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_000551.4(VHL):c.154G>A (p.Glu52Lys)
|
rs373068386
|
|
NM_000760.4(CSF3R):c.1843A>G (p.Thr615Ala)
|
rs1057519776
|
|
NM_000760.4(CSF3R):c.1853C>T (p.Thr618Ile)
|
rs796065343
|
|
NM_001042492.3(NF1):c.1062+3A>G
|
rs1057521098
|
|
NM_001042492.3(NF1):c.1070T>C (p.Leu357Pro)
|
rs137854563
|
|
NM_001042492.3(NF1):c.1082del (p.Ser361fs)
|
|
|
NM_001042492.3(NF1):c.146del (p.Tyr49fs)
|
|
|
NM_001042492.3(NF1):c.1564dup (p.Thr522fs)
|
rs2066874810
|
|
NM_001042492.3(NF1):c.1595T>G (p.Leu532Arg)
|
rs199474737
|
|
NM_001042492.3(NF1):c.1776del (p.Ser592fs)
|
|
|
NM_001042492.3(NF1):c.1876del (p.Leu626fs)
|
rs1597710409
|
|
NM_001042492.3(NF1):c.1882_1884delinsAA (p.Tyr628fs)
|
|
|
NM_001042492.3(NF1):c.1997_1998del (p.Ser666fs)
|
|
|
NM_001042492.3(NF1):c.2182_2196delinsT (p.Val728fs)
|
rs1597712665
|
|
NM_001042492.3(NF1):c.2276_2291del (p.Val759fs)
|
|
|
NM_001042492.3(NF1):c.2293del (p.Arg765fs)
|
rs1597713360
|
|
NM_001042492.3(NF1):c.2294del (p.Arg765fs)
|
rs2151426934
|
|
NM_001042492.3(NF1):c.2325+1G>C
|
|
|
NM_001042492.3(NF1):c.2339C>G (p.Thr780Arg)
|
rs199474746
|
|
NM_001042492.3(NF1):c.2576del (p.Gly859fs)
|
|
|
NM_001042492.3(NF1):c.2682del (p.Phe894fs)
|
|
|
NM_001042492.3(NF1):c.2693T>C (p.Leu898Pro)
|
rs199474786
|
|
NM_001042492.3(NF1):c.2842del (p.Gln948fs)
|
rs1555614354
|
|
NM_001042492.3(NF1):c.2850+1G>C
|
|
|
NM_001042492.3(NF1):c.2851-1G>C
|
rs1597716274
|
|
NM_001042492.3(NF1):c.2952del (p.Gln985fs)
|
rs1555614453
|
|
NM_001042492.3(NF1):c.2990G>A (p.Arg997Lys)
|
rs1555614462
|
|
NM_001042492.3(NF1):c.3198-2A>G
|
rs1131691089
|
|
NM_001042492.3(NF1):c.319dup (p.Thr107fs)
|
|
|
NM_001042492.3(NF1):c.3314+2T>G
|
rs863224445
|
|
NM_001042492.3(NF1):c.3447G>T (p.Met1149Ile)
|
rs1064794277
|
|
NM_001042492.3(NF1):c.3611G>T (p.Arg1204Leu)
|
rs1057521848
|
|
NM_001042492.3(NF1):c.3682del (p.Ala1228fs)
|
|
|
NM_001042492.3(NF1):c.3686_3690del (p.Asn1229fs)
|
|
|
NM_001042492.3(NF1):c.3878del (p.Gly1293fs)
|
|
|
NM_001042492.3(NF1):c.4070del (p.Phe1357fs)
|
rs1555617354
|
|
NM_001042492.3(NF1):c.4235G>T (p.Arg1412Ile)
|
|
|
NM_001042492.3(NF1):c.4406_4418del (p.Lys1469fs)
|
rs1567862349
|
|
NM_001042492.3(NF1):c.449del (p.Phe150fs)
|
rs1567817974
|
|
NM_001042492.3(NF1):c.454_458del (p.Ala152fs)
|
|
|
NM_001042492.3(NF1):c.4725-1G>A
|
rs1555619391
|
|
NM_001042492.3(NF1):c.4760del (p.Ala1586_Leu1587insTer)
|
rs2151470108
|
|
NM_001042492.3(NF1):c.4903del (p.Tyr1635fs)
|
|
|
NM_001042492.3(NF1):c.4980dup (p.Lys1661Ter)
|
rs2069329774
|
|
NM_001042492.3(NF1):c.5029del (p.Val1677fs)
|
|
|
NM_001042492.3(NF1):c.5223del (p.His1741fs)
|
|
|
NM_001042492.3(NF1):c.5269-38A>G
|
rs2151540615
|
|
NM_001042492.3(NF1):c.5296del (p.Ser1766fs)
|
|
|
NM_001042492.3(NF1):c.5297del (p.Thr1765_Ser1766insTer)
|
|
|
NM_001042492.3(NF1):c.5652T>G (p.Phe1884Leu)
|
rs1567613616
|
|
NM_001042492.3(NF1):c.5813-1G>A
|
rs1057518974
|
|
NM_001042492.3(NF1):c.5861C>A (p.Ser1954Ter)
|
|
|
NM_001042492.3(NF1):c.6179_6183del (p.Lys2060fs)
|
|
|
NM_001042492.3(NF1):c.6252C>A (p.Tyr2084Ter)
|
rs2069684411
|
|
NM_001042492.3(NF1):c.6275del (p.Asn2092fs)
|
rs1555534697
|
|
NM_001042492.3(NF1):c.6819+3del
|
rs2069728377
|
|
NM_001042492.3(NF1):c.6862C>T (p.Gln2288Ter)
|
|
|
NM_001042492.3(NF1):c.7386_7387insA (p.Leu2463fs)
|
|
|
NM_001042492.3(NF1):c.7387_7388dup (p.Thr2464fs)
|
|
|
NM_001042492.3(NF1):c.7387del (p.Thr2464fs)
|
|
|
NM_001042492.3(NF1):c.7646C>G (p.Ser2549Ter)
|
|
|
NM_001042492.3(NF1):c.7777_7778del (p.Leu2593fs)
|
|
|
NM_001042492.3(NF1):c.7894_7895del (p.Thr2631_Asp2632insTer)
|
|
|
NM_001042492.3(NF1):c.7926C>A (p.Tyr2642Ter)
|
|
|
NM_001042492.3(NF1):c.7971-321C>G
|
rs2070316606
|
|
NM_001042492.3(NF1):c.8136G>A (p.Trp2712Ter)
|
|
|
NM_001042492.3(NF1):c.8194del (p.Val2732fs)
|
|
|
NM_001042492.3(NF1):c.862_868dup (p.Asp290delinsGlyGlyTer)
|
|
|
NM_001042492.3(NF1):c.966dup (p.Ala323fs)
|
|
|
NM_001195427.2(SRSF2):c.284C>G (p.Pro95Arg)
|
rs751713049
|
|
NM_001288705.3(CSF1R):c.1711T>G (p.Tyr571Asp)
|
rs1057519802
|
|
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys)
|
rs121434592
|
|
NM_001530.4(HIF1A):c.1369G>A (p.Glu457Lys)
|
|
|
NM_001530.4(HIF1A):c.148G>C (p.Val50Leu)
|
|
|
NM_001530.4(HIF1A):c.1892G>A (p.Arg631His)
|
|
|
NM_001530.4(HIF1A):c.1961C>T (p.Ala654Val)
|
|
|
NM_001530.4(HIF1A):c.2075C>G (p.Ser692Cys)
|
|
|
NM_001530.4(HIF1A):c.644C>T (p.Pro215Leu)
|
|
|
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_001844.5(COL2A1):c.1955A>G (p.Glu652Gly)
|
rs2136556852
|
|
NM_001904.4(CTNNB1):c.100G>A (p.Gly34Arg)
|
rs121913399
|
|
NM_001904.4(CTNNB1):c.100G>C (p.Gly34Arg)
|
rs121913399
|
|
NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val)
|
rs28931589
|
|
NM_001904.4(CTNNB1):c.94G>T (p.Asp32Tyr)
|
rs28931588
|
|
NM_002168.4(IDH2):c.514A>G (p.Arg172Gly)
|
rs1057519906
|
|
NM_002168.4(IDH2):c.514A>T (p.Arg172Trp)
|
rs1057519906
|
|
NM_002221.4(ITPKB):c.1222T>G (p.Ser408Ala)
|
|
|
NM_002221.4(ITPKB):c.1655C>A (p.Pro552Gln)
|
|
|
NM_002221.4(ITPKB):c.267CAGCGGCAG[1] (p.91GSS[1])
|
|
|
NM_002227.4(JAK1):c.1972G>T (p.Val658Phe)
|
rs1057519753
|
|
NM_002227.4(JAK1):c.2347C>T (p.Leu783Phe)
|
rs1655079234
|
|
NM_002430.3(MN1):c.772_776del (p.His258fs)
|
rs1568986076
|
|
NM_002430.3(MN1):c.785del (p.Gly262fs)
|
rs1568986066
|
|
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_002834.5(PTPN11):c.1232C>T (p.Thr411Met)
|
rs121918467
|
|
NM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr)
|
rs397507539
|
|
NM_002834.5(PTPN11):c.1472C>A (p.Pro491His)
|
rs397507540
|
|
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_002834.5(PTPN11):c.691C>T (p.Arg231Ter)
|
rs2038154558
|
|
NM_002834.5(PTPN11):c.787T>A (p.Tyr263Asn)
|
|
|
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser)
|
rs397507527
|
|
NM_002834.5(PTPN11):c.853T>G (p.Phe285Val)
|
rs397507531
|
|
NM_003482.4(KMT2D):c.11047C>T (p.Gln3683Ter)
|
rs1565779530
|
|
NM_003977.2(AIP):c.(?_1)_(*_?)del
|
|
|
NM_003977.2(AIP):c.-1212_279+578del
|
|
|
NM_003977.3(AIP):c.74_81delTCCCGGACins7
|
|
|
NM_003977.3(AIP):c.[-125-145_-125-144delCGinsAA];[-125-95G>A]
|
|
|
NM_003977.3(AIP):c.[878_879delAGinsGT];[880_891delCTGGACCCAGCC]
|
|
|
NM_003977.4(AIP):c.100-1025_279+357del
|
|
|
NM_003977.4(AIP):c.301_423del (p.Val101_Leu141del)
|
|
|
NM_003977.4(AIP):c.3G>A (p.Met1Ile)
|
rs886037871
|
|
NM_003977.4(AIP):c.504_510del (p.Pro167_Trp168insTer)
|
|
|
NM_003977.4(AIP):c.804C>A (p.Tyr268Ter)
|
rs121908356
|
|
NM_003977.4(AIP):c.844dup (p.Gln282fs)
|
|
|
NM_003977.4(AIP):c.919dup (p.Arg307fs)
|
rs267606589
|
|
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.1742A>G (p.Asn581Ser)
|
rs121913370
|
|
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_004752.4(GCM2):c.1148T>C (p.Ile383Thr)
|
rs2113243235
|
|
NM_004752.4(GCM2):c.1A>G (p.Met1Val)
|
rs2113257238
|
|
NM_004972.4(JAK2):c.1691G>T (p.Arg564Leu)
|
rs368927897
|
|
NM_004972.4(JAK2):c.2047A>G (p.Arg683Gly)
|
rs1057519721
|
|
NM_004972.4(JAK2):c.2624C>A (p.Thr875Asn)
|
rs1057520016
|
|
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.1052T>C (p.Met351Thr)
|
rs121913457
|
|
NM_005157.6(ABL1):c.1064A>G (p.Glu355Gly)
|
rs121913450
|
|
NM_005157.6(ABL1):c.1075T>A (p.Phe359Ile)
|
rs121913452
|
|
NM_005157.6(ABL1):c.1075T>C (p.Phe359Leu)
|
rs121913452
|
|
NM_005157.6(ABL1):c.1075T>G (p.Phe359Val)
|
rs121913452
|
|
NM_005157.6(ABL1):c.1076T>G (p.Phe359Cys)
|
rs1057519775
|
|
NM_005157.6(ABL1):c.1187A>G (p.His396Arg)
|
rs121913454
|
|
NM_005157.6(ABL1):c.706G>A (p.Glu236Lys)
|
rs387906517
|
|
NM_005157.6(ABL1):c.730A>G (p.Met244Val)
|
rs121913456
|
|
NM_005157.6(ABL1):c.742C>G (p.Leu248Val)
|
rs121913455
|
|
NM_005157.6(ABL1):c.749G>A (p.Gly250Glu)
|
rs121913453
|
|
NM_005157.6(ABL1):c.756G>C (p.Gln252His)
|
rs121913458
|
|
NM_005157.6(ABL1):c.756G>T (p.Gln252His)
|
rs121913458
|
|
NM_005157.6(ABL1):c.757T>C (p.Tyr253His)
|
rs121913461
|
|
NM_005157.6(ABL1):c.758A>T (p.Tyr253Phe)
|
rs121913460
|
|
NM_005157.6(ABL1):c.763G>A (p.Glu255Lys)
|
rs121913448
|
|
NM_005157.6(ABL1):c.764A>T (p.Glu255Val)
|
rs121913449
|
|
NM_005157.6(ABL1):c.847T>G (p.Phe283Val)
|
rs1057519758
|
|
NM_005157.6(ABL1):c.895G>C (p.Val299Leu)
|
rs1057519771
|
|
NM_005157.6(ABL1):c.943A>G (p.Thr315Ala)
|
rs1057519772
|
|
NM_005157.6(ABL1):c.944C>T (p.Thr315Ile)
|
rs121913459
|
|
NM_005157.6(ABL1):c.949T>A (p.Phe317Ile)
|
rs1057519773
|
|
NM_005157.6(ABL1):c.949T>G (p.Phe317Val)
|
rs1057519773
|
|
NM_005157.6(ABL1):c.950T>G (p.Phe317Cys)
|
rs1057519774
|
|
NM_005157.6(ABL1):c.951C>A (p.Phe317Leu)
|
rs121913451
|
|
NM_005157.6(ABL1):c.951C>G (p.Phe317Leu)
|
rs121913451
|
|
NM_005188.4(CBL):c.1096-1G>C
|
rs397517076
|
|
NM_005188.4(CBL):c.1112A>C (p.Tyr371Ser)
|
rs387906666
|
|
NM_005188.4(CBL):c.1228-2A>G
|
rs727504426
|
|
NM_005188.4(CBL):c.1439G>A (p.Arg480Gln)
|
rs1949969239
|
|
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_005373.3(MPL):c.1165+1G>C
|
rs775550081
|
|
NM_005373.3(MPL):c.1166-1G>C
|
rs2153918730
|
|
NM_005373.3(MPL):c.1305G>C (p.Trp435Cys)
|
|
|
NM_005373.3(MPL):c.1308+2T>G
|
|
|
NM_005373.3(MPL):c.1468+1G>A
|
|
|
NM_005373.3(MPL):c.1468+2T>C
|
rs1057517761
|
|
NM_005373.3(MPL):c.1469-1G>T
|
rs771729218
|
|
NM_005373.3(MPL):c.1469-2A>T
|
|
|
NM_005373.3(MPL):c.1513A>T (p.Ser505Cys)
|
rs1057519752
|
|
NM_005373.3(MPL):c.1514G>A (p.Ser505Asn)
|
rs121913614
|
|
NM_005373.3(MPL):c.212+1G>A
|
rs142565191
|
|
NM_005373.3(MPL):c.213-1G>A
|
|
|
NM_005373.3(MPL):c.305G>A (p.Arg102His)
|
rs28928907
|
|
NM_005373.3(MPL):c.317C>T (p.Pro106Leu)
|
rs750046020
|
|
NM_005373.3(MPL):c.407C>A (p.Pro136His)
|
rs764904424
|
|
NM_005373.3(MPL):c.690+2T>A
|
rs2153916885
|
|
NM_005373.3(MPL):c.690+2T>C
|
|
|
NM_005373.3(MPL):c.79+1G>A
|
|
|
NM_005373.3(MPL):c.79+1G>T
|
rs1647004958
|
|
NM_005373.3(MPL):c.854-1G>A
|
|
|
NM_005373.3(MPL):c.980+2T>A
|
rs1647023010
|
|
NM_006206.6(PDGFRA):c.167G>C (p.Ser56Thr)
|
rs587778601
|
|
NM_006265.3(RAD21):c.9C>A (p.Tyr3Ter)
|
rs758626942
|
|
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.2099A>G (p.Glu700Gly)
|
rs1057519960
|
|
NM_007194.4(CHEK2):c.684-2A>G
|
rs2053419665
|
|
NM_007194.4(CHEK2):c.793-1G>A
|
rs730881687
|
|
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_015922.3(NSDHL):c.1114del (p.Val372fs)
|
rs587784222
|
|
NM_015922.3(NSDHL):c.317C>T (p.Ser106Leu)
|
rs1602937895
|
|
NM_015922.3(NSDHL):c.387del (p.Ile129fs)
|
|
|
NM_015922.3(NSDHL):c.595C>T (p.Arg199Cys)
|
rs587784223
|
|
NM_015922.3(NSDHL):c.727G>A (p.Val243Met)
|
rs587784224
|
|
NM_016222.4(DDX41):c.1586_1587del (p.Thr529fs)
|
rs866179648
|
|
NM_022124.6(CDH23):c.1120_1123del (p.Val374fs)
|
|
|
NM_022124.6(CDH23):c.1143_1176del
|
rs764949139
|
|
NM_022124.6(CDH23):c.1386_1389del (p.Gln462fs)
|
rs1862873659
|
|
NM_022124.6(CDH23):c.1428dup (p.Thr477fs)
|
rs750803248
|
|
NM_022124.6(CDH23):c.1447delinsTTT (p.Leu483fs)
|
|
|
NM_022124.6(CDH23):c.1735C>T (p.Gln579Ter)
|
rs779974496
|
|
NM_022124.6(CDH23):c.1859-1G>T
|
rs1274105133
|
|
NM_022124.6(CDH23):c.1859-2A>G
|
|
|
NM_022124.6(CDH23):c.1891C>T (p.Gln631Ter)
|
|
|
NM_022124.6(CDH23):c.1936del (p.Ala646fs)
|
|
|
NM_022124.6(CDH23):c.1987-1G>T
|
|
|
NM_022124.6(CDH23):c.2161_2166delinsGTGA (p.Ile721fs)
|
|
|
NM_022124.6(CDH23):c.2289+1G>C
|
|
|
NM_022124.6(CDH23):c.2349C>G (p.Tyr783Ter)
|
rs1589344004
|
|
NM_022124.6(CDH23):c.2394del (p.Thr799fs)
|
|
|
NM_022124.6(CDH23):c.2397+1G>A
|
|
|
NM_022124.6(CDH23):c.2527del (p.Glu843fs)
|
|
|
NM_022124.6(CDH23):c.2587+1G>C
|
|
|
NM_022124.6(CDH23):c.2844dup (p.Thr949fs)
|
|
|
NM_022124.6(CDH23):c.288+2T>C
|
|
|
NM_022124.6(CDH23):c.2922del (p.Lys975fs)
|
rs1338446830
|
|
NM_022124.6(CDH23):c.2953+1G>A
|
|
|
NM_022124.6(CDH23):c.2954-2A>G
|
|
|
NM_022124.6(CDH23):c.3292_3295dup (p.Arg1099fs)
|
|
|
NM_022124.6(CDH23):c.3397G>T (p.Glu1133Ter)
|
|
|
NM_022124.6(CDH23):c.345_346del (p.Arg116fs)
|
|
|
NM_022124.6(CDH23):c.3486dup (p.Pro1163fs)
|
|
|
NM_022124.6(CDH23):c.3579+2T>C
|
rs1385831846
|
|
NM_022124.6(CDH23):c.3591C>A (p.Tyr1197Ter)
|
|
|
NM_022124.6(CDH23):c.3634C>T (p.Gln1212Ter)
|
|
|
NM_022124.6(CDH23):c.3720_3733del (p.Asp1240fs)
|
|
|
NM_022124.6(CDH23):c.3769G>T (p.Glu1257Ter)
|
|
|
NM_022124.6(CDH23):c.380A>G (p.Asp127Gly)
|
rs876657754
|
|
NM_022124.6(CDH23):c.4021G>A (p.Asp1341Asn)
|
rs121908351
|
|
NM_022124.6(CDH23):c.4101_4104+3del
|
|
|
NM_022124.6(CDH23):c.4105-4_4105-2delinsTCT
|
rs1589384283
|
|
NM_022124.6(CDH23):c.4207-2A>G
|
|
|
NM_022124.6(CDH23):c.4210-1G>A
|
rs1166948274
|
|
NM_022124.6(CDH23):c.4210-2A>G
|
rs557620034
|
|
NM_022124.6(CDH23):c.4300del (p.Val1434fs)
|
|
|
NM_022124.6(CDH23):c.4332G>A (p.Trp1444Ter)
|
|
|
NM_022124.6(CDH23):c.4426del (p.Ile1476fs)
|
|
|
NM_022124.6(CDH23):c.4428del (p.Ile1476fs)
|
|
|
NM_022124.6(CDH23):c.4440del (p.Phe1480fs)
|
|
|
NM_022124.6(CDH23):c.4471dup (p.Asp1491fs)
|
|
|
NM_022124.6(CDH23):c.4720_4721del (p.Met1574fs)
|
|
|
NM_022124.6(CDH23):c.4762C>T (p.Arg1588Trp)
|
rs137937502
|
|
NM_022124.6(CDH23):c.4863C>G (p.Tyr1621Ter)
|
|
|
NM_022124.6(CDH23):c.489del (p.Gly165fs)
|
|
|
NM_022124.6(CDH23):c.5101G>A (p.Glu1701Lys)
|
|
|
NM_022124.6(CDH23):c.5125del (p.Thr1708_Leu1709insTer)
|
rs2132927249
|
|
NM_022124.6(CDH23):c.5188-1G>A
|
|
|
NM_022124.6(CDH23):c.5277_5283del (p.Gly1760fs)
|
|
|
NM_022124.6(CDH23):c.5502+2T>G
|
|
|
NM_022124.6(CDH23):c.5534A>G (p.Asn1845Ser)
|
|
|
NM_022124.6(CDH23):c.562dup (p.Thr188fs)
|
rs1857435780
|
|
NM_022124.6(CDH23):c.5749G>A (p.Glu1917Lys)
|
rs1060499789
|
|
NM_022124.6(CDH23):c.5820+2T>C
|
|
|
NM_022124.6(CDH23):c.5820+5G>A
|
rs2132940635
|
|
NM_022124.6(CDH23):c.5931del (p.Leu1978fs)
|
|
|
NM_022124.6(CDH23):c.5976del (p.Asp1993fs)
|
|
|
NM_022124.6(CDH23):c.6050-1G>A
|
rs762805265
|
|
NM_022124.6(CDH23):c.624+1G>A
|
|
|
NM_022124.6(CDH23):c.6311_6344delinsCCA (p.Leu2104fs)
|
|
|
NM_022124.6(CDH23):c.6344del (p.Arg2115fs)
|
rs1589424694
|
|
NM_022124.6(CDH23):c.6377delinsCGT (p.Arg2126fs)
|
|
|
NM_022124.6(CDH23):c.6464C>A (p.Ser2155Ter)
|
|
|
NM_022124.6(CDH23):c.6516del (p.Glu2173fs)
|
|
|
NM_022124.6(CDH23):c.6604G>A (p.Asp2202Asn)
|
rs121908349
|
|
NM_022124.6(CDH23):c.6675dup (p.Asn2226fs)
|
|
|
NM_022124.6(CDH23):c.6676_6677insTT (p.Asn2226fs)
|
|
|
NM_022124.6(CDH23):c.66G>A (p.Trp22Ter)
|
|
|
NM_022124.6(CDH23):c.67+1G>A
|
|
|
NM_022124.6(CDH23):c.6821_6822del (p.Val2274fs)
|
|
|
NM_022124.6(CDH23):c.6831del (p.Lys2278fs)
|
rs1200012430
|
|
NM_022124.6(CDH23):c.6942del (p.Leu2315fs)
|
|
|
NM_022124.6(CDH23):c.6944_6945del (p.Leu2315fs)
|
|
|
NM_022124.6(CDH23):c.7022del (p.Pro2341fs)
|
|
|
NM_022124.6(CDH23):c.702dup (p.Ile235fs)
|
|
|
NM_022124.6(CDH23):c.7054+1G>A
|
rs1057524265
|
|
NM_022124.6(CDH23):c.7258del (p.Ile2420fs)
|
|
|
NM_022124.6(CDH23):c.7483-1G>A
|
|
|
NM_022124.6(CDH23):c.753+1G>A
|
rs1857755312
|
|
NM_022124.6(CDH23):c.754-2A>G
|
rs2132400338
|
|
NM_022124.6(CDH23):c.7558G>A (p.Glu2520Lys)
|
|
|
NM_022124.6(CDH23):c.7568del (p.Pro2523fs)
|
|
|
NM_022124.6(CDH23):c.7624_7630del (p.Asn2541_Gly2542insTer)
|
|
|
NM_022124.6(CDH23):c.778G>A (p.Ala260Thr)
|
rs373294595
|
|
NM_022124.6(CDH23):c.7841del (p.Pro2614fs)
|
|
|
NM_022124.6(CDH23):c.7902_7903insTTACGAG (p.Val2635fs)
|
rs1221464948
|
|
NM_022124.6(CDH23):c.7987TTC[1] (p.Phe2664del)
|
rs774559018
|
|
NM_022124.6(CDH23):c.8197C>T (p.Gln2733Ter)
|
rs1841758961
|
|
NM_022124.6(CDH23):c.8308+1G>A
|
rs757675676
|
|
NM_022124.6(CDH23):c.8309-1G>A
|
|
|
NM_022124.6(CDH23):c.8352del (p.Leu2785fs)
|
|
|
NM_022124.6(CDH23):c.8443del (p.Arg2815fs)
|
|
|
NM_022124.6(CDH23):c.8532_8533del (p.Arg2845fs)
|
|
|
NM_022124.6(CDH23):c.8590G>T (p.Glu2864Ter)
|
|
|
NM_022124.6(CDH23):c.860_863dup (p.Tyr288Ter)
|
|
|
NM_022124.6(CDH23):c.871G>A (p.Gly291Arg)
|
rs767343063
|
|
NM_022124.6(CDH23):c.871G>T (p.Gly291Ter)
|
rs767343063
|
|
NM_022124.6(CDH23):c.8722+1G>A
|
|
|
NM_022124.6(CDH23):c.8764del (p.Ala2922fs)
|
|
|
NM_022124.6(CDH23):c.9109C>T (p.Gln3037Ter)
|
|
|
NM_022124.6(CDH23):c.913del (p.Leu305fs)
|
rs1393567447
|
|
NM_022124.6(CDH23):c.9176del (p.Pro3059fs)
|
rs1554877806
|
|
NM_022124.6(CDH23):c.9264G>A (p.Trp3088Ter)
|
|
|
NM_022124.6(CDH23):c.9381-2A>G
|
|
|
NM_022124.6(CDH23):c.9471_9474del (p.Ser3157fs)
|
|
|
NM_022124.6(CDH23):c.9556C>T (p.Arg3186Ter)
|
rs773464867
|
|
NM_022124.6(CDH23):c.9700del (p.Val3234fs)
|
|
|
NM_022124.6(CDH23):c.9738+1G>T
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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.2204A>G (p.Tyr735Cys)
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rs147828672
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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_024426.6(WT1):c.1157_1158insTGTACGGT (p.Ala387fs)
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rs1057519745
|
|
NM_024529.5(CDC73):c.1195C>T (p.Arg399Ter)
|
rs1677688362
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NM_024529.5(CDC73):c.132-2A>G
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rs1057519419
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NM_024529.5(CDC73):c.584del (p.Ser195fs)
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|
|
NM_024529.5(CDC73):c.802C>T (p.Arg268Ter)
|
rs2103130589
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|
NM_032638.5(GATA2):c.1061C>T (p.Thr354Met)
|
rs387906631
|
|
NM_032638.5(GATA2):c.1192C>T (p.Arg398Trp)
|
rs387906629
|
|
NM_032638.5(GATA2):c.1322_1325dup (p.His442fs)
|
rs2107667819
|
|
NM_033360.4(KRAS):c.355G>A (p.Asp119Asn)
|
rs730880471
|
|
NM_058172.6(ANTXR2):c.1087-1G>A
|
|
|
NM_058172.6(ANTXR2):c.1148G>A (p.Gly383Asp)
|
rs886039907
|
|
NM_058172.6(ANTXR2):c.1190dup (p.Gly397_Asp398insTer)
|
rs1578125066
|
|
NM_058172.6(ANTXR2):c.1287_1288del (p.Arg429fs)
|
|
|
NM_058172.6(ANTXR2):c.134T>C (p.Leu45Pro)
|
rs886041401
|
|
NM_058172.6(ANTXR2):c.211del (p.Glu71fs)
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|
|
NM_058172.6(ANTXR2):c.241T>C (p.Ser81Pro)
|
rs797045029
|
|
NM_058172.6(ANTXR2):c.297-1G>A
|
|
|
NM_058172.6(ANTXR2):c.297-2del
|
rs2110109074
|
|
NM_058172.6(ANTXR2):c.487-2A>G
|
|
|
NM_058172.6(ANTXR2):c.496_497del (p.Ser166fs)
|
|
|
NM_058172.6(ANTXR2):c.720del (p.Ser240fs)
|
rs1732803804
|
|
NM_058172.6(ANTXR2):c.770dup (p.Tyr257Ter)
|
rs1578172709
|
|
NM_058172.6(ANTXR2):c.867_945del (p.Glu289fs)
|
rs1560998734
|
|
NM_198253.3(TERT):c.1620C>G (p.Ile540Met)
|
rs797046041
|
|
NM_198253.3(TERT):c.336dup (p.Glu113fs)
|
rs1060502990
|
|
NM_198291.3(SRC):c.1579G>A (p.Glu527Lys)
|
rs879255268
|
|
NM_207122.2(EXT2):c.1489_1495+12del
|
|
|
NM_207122.2(EXT2):c.1496-1G>C
|
|
|
NM_207122.2(EXT2):c.1534del (p.Val511_Val512insTer)
|
|
|
NM_207122.2(EXT2):c.1662+1G>C
|
|
|
NM_207122.2(EXT2):c.1663-1G>A
|
|
|
NM_207122.2(EXT2):c.1668G>A (p.Trp556Ter)
|
|
|
NM_207122.2(EXT2):c.168G>A (p.Trp56Ter)
|
|
|
NM_207122.2(EXT2):c.1733del (p.Asn578fs)
|
|
|
NM_207122.2(EXT2):c.1778del (p.Val593fs)
|
|
|
NM_207122.2(EXT2):c.1823A>G (p.Tyr608Cys)
|
rs1590667793
|
|
NM_207122.2(EXT2):c.1935+1G>T
|
|
|
NM_207122.2(EXT2):c.238del (p.Arg80fs)
|
rs1565196333
|
|
NM_207122.2(EXT2):c.398T>G (p.Leu133Arg)
|
|
|
NM_207122.2(EXT2):c.680A>T (p.Asp227Val)
|
rs2134984829
|
|
NM_207122.2(EXT2):c.832G>T (p.Glu278Ter)
|
|
|
NM_207122.2(EXT2):c.909_910insGATGTCAGCATTCCTGTCTATAATCC (p.Gln304fs)
|
rs2135015566
|
|
Single allele
|
|
|
t(12;13)(p13.2;q12.2)
|
|
|
t(13;17)(q12.2;q11.2)
|
|
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