NM_001754.5(RUNX1):c.614-34C>T
|
rs11702841
|
0.99999
|
NM_003977.4(AIP):c.920= (p.Arg307=)
|
rs4930199
|
0.99984
|
NM_058172.6(ANTXR2):c.*3695T>C
|
rs4611863
|
0.98122
|
NM_000388.4(CASR):c.2244G>C (p.Pro748=)
|
rs2036400
|
0.97432
|
NM_000388.4(CASR):c.*574C>G
|
rs6438718
|
0.96802
|
NM_000388.4(CASR):c.3031G>C (p.Glu1011Gln)
|
rs1801726
|
0.91749
|
NM_000388.4(CASR):c.492+19G>A
|
rs9869985
|
0.91296
|
NM_003977.4(AIP):c.682C>A (p.Gln228Lys)
|
rs641081
|
0.84113
|
NM_015922.3(NSDHL):c.132T>G (p.Gly44=)
|
rs5969919
|
0.83345
|
NM_058172.6(ANTXR2):c.*1521A>G
|
rs7747
|
0.80751
|
NM_058172.6(ANTXR2):c.*784T>G
|
rs1139638
|
0.80420
|
NM_058172.6(ANTXR2):c.*785T>C
|
rs63539261
|
0.80416
|
NM_022124.6(CDH23):c.4206+131T>C
|
rs1227061
|
0.77987
|
NM_022124.6(CDH23):c.146-125T>C
|
rs2297953
|
0.74120
|
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
|
NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg)
|
rs3184504
|
0.66794
|
NM_000546.6(TP53):c.215C>G (p.Pro72Arg)
|
rs1042522
|
0.62654
|
NM_022124.6(CDH23):c.1134+164C>G
|
rs7903772
|
0.61986
|
NM_005188.4(CBL):c.1095+19G>T
|
rs2510152
|
0.61865
|
NM_058172.6(ANTXR2):c.378+8A>C
|
rs4594664
|
0.61456
|
NM_058172.6(ANTXR2):c.636+54T>A
|
rs10745242
|
0.61408
|
NM_058172.6(ANTXR2):c.*4272C>T
|
rs56708107
|
0.57619
|
NM_000388.4(CASR):c.1609-89C>T
|
rs4678174
|
0.55250
|
NM_000388.4(CASR):c.*1198T>C
|
rs10190
|
0.54750
|
NM_022124.6(CDH23):c.1135-128A>G
|
rs10823810
|
0.51167
|
NM_207122.1(EXT2):c.-311G>A
|
rs3923808
|
0.50004
|
NR_040073.1(MIR181A1HG):n.364-18748G>A
|
rs12406470
|
0.47231
|
NM_002451.4(MTAP):c.*3829T>C
|
rs6475592
|
0.44086
|
NM_002451.4(MTAP):c.*884T>A
|
rs1134871
|
0.44065
|
NM_002451.4(MTAP):c.*2365C>T
|
rs10117550
|
0.43789
|
NM_022124.6(CDH23):c.832+101G>A
|
rs6480531
|
0.42446
|
NM_002451.4(MTAP):c.166G>A (p.Val56Ile)
|
rs7023954
|
0.42302
|
NM_002451.4(MTAP):c.*258A>C
|
rs15735
|
0.40160
|
NM_022124.6(CDH23):c.5187+99T>C
|
rs10762481
|
0.39527
|
NM_058172.6(ANTXR2):c.-82C>A
|
rs13140055
|
0.38249
|
NM_002609.4(PDGFRB):c.3137+4A>G
|
rs246391
|
0.38064
|
NC_000001.11:g.198807802C>A
|
rs9660525
|
0.38046
|
NM_002609.4(PDGFRB):c.3252A>G (p.Pro1084=)
|
rs246388
|
0.36918
|
NM_000127.3(EXT1):c.1761G>A (p.Glu587=)
|
rs7837891
|
0.36094
|
NM_022124.6(CDH23):c.624+64C>T
|
rs7087735
|
0.34986
|
NM_022124.6(CDH23):c.7055-16A>G
|
rs4747193
|
0.34615
|
NM_000400.4(ERCC2):c.2251A>C (p.Lys751Gln)
|
rs13181
|
0.31719
|
NM_058172.6(ANTXR2):c.*4056T>A
|
rs11946205
|
0.31619
|
NM_000388.4(CASR):c.*1015A>G
|
rs9740
|
0.27327
|
NM_002609.4(PDGFRB):c.2601A>G (p.Leu867=)
|
rs246395
|
0.26470
|
NM_207122.2(EXT2):c.1080-18T>A
|
rs11037882
|
0.26140
|
NM_207122.1(EXT2):c.-331T>C
|
rs10458911
|
0.25844
|
NM_207122.2(EXT2):c.1807-51T>C
|
rs11037909
|
0.25427
|
NM_002451.4(MTAP):c.*2085G>A
|
rs10117507
|
0.24202
|
NM_207122.2(EXT2):c.1936-41T>C
|
rs3740878
|
0.23855
|
NM_000127.3(EXT1):c.1065C>T (p.Cys355=)
|
rs11546829
|
0.23625
|
NM_002451.4(MTAP):c.*3093T>C
|
rs4977735
|
0.21917
|
NM_002451.4(MTAP):c.*3946A>C
|
rs10965168
|
0.21553
|
NM_002451.4(MTAP):c.*2522A>G
|
rs3802394
|
0.21540
|
NM_198253.3(TERT):c.915G>A (p.Ala305=)
|
rs2736098
|
0.21206
|
NM_022124.6(CDH23):c.1469G>C (p.Gly490Ala)
|
rs1227049
|
0.20047
|
NM_058172.6(ANTXR2):c.-319C>G
|
rs11557908
|
0.18441
|
NM_058172.6(ANTXR2):c.-410G>A
|
rs72869605
|
0.18258
|
NM_000127.3(EXT1):c.1431C>T (p.Pro477=)
|
rs17439693
|
0.17547
|
NM_000388.4(CASR):c.*1093C>T
|
rs1802757
|
0.17297
|
NM_004364.5(CEBPA):c.690G>T (p.Thr230=)
|
rs34529039
|
0.16355
|
NM_006206.6(PDGFRA):c.1432T>C (p.Ser478Pro)
|
rs35597368
|
0.15258
|
NM_022124.6(CDH23):c.1449+130T>C
|
rs2305209
|
0.14152
|
NM_058172.6(ANTXR2):c.*1671T>G
|
rs2760
|
0.11504
|
NM_002834.3(PTPN11):c.-273G>A
|
rs58805176
|
0.10884
|
NM_058172.6(ANTXR2):c.*5602C>G
|
rs4331719
|
0.10728
|
NM_000388.4(CASR):c.2956G>T (p.Ala986Ser)
|
rs1801725
|
0.10682
|
NM_002451.4(MTAP):c.*536G>A
|
rs1134870
|
0.09270
|
NM_002609.4(PDGFRB):c.3090C>T (p.Pro1030=)
|
rs2228440
|
0.09078
|
NM_003200.5(TCF3):c.1291G>A (p.Gly431Ser)
|
rs1052692
|
0.08952
|
NM_198253.3(TERT):c.3039C>T (p.His1013=)
|
rs33954691
|
0.08834
|
NM_207122.2(EXT2):c.-31+7G>T
|
rs58861092
|
0.08791
|
NM_000388.4(CASR):c.2968A>G (p.Arg990Gly)
|
rs1042636
|
0.08688
|
NM_006206.6(PDGFRA):c.2323+1120C>T
|
rs2291591
|
0.08547
|
NM_058172.6(ANTXR2):c.*28C>T
|
rs61048419
|
0.08261
|
NM_000222.3(KIT):c.1621A>C (p.Met541Leu)
|
rs3822214
|
0.07727
|
NM_080425.4(GNAS):c.1307C>A (p.Ala436Asp)
|
rs61749698
|
0.07665
|
NM_002609.4(PDGFRB):c.85A>T (p.Ile29Phe)
|
rs17110944
|
0.07088
|
NM_058172.6(ANTXR2):c.1395G>A (p.Arg465=)
|
rs35798108
|
0.06853
|
NM_000388.4(CASR):c.*1235A>G
|
rs34042920
|
0.06757
|
NM_000127.3(EXT1):c.-722T>C
|
rs192302720
|
0.06363
|
NM_058172.6(ANTXR2):c.-230_-229del
|
rs80314910
|
0.06101
|
NM_002451.4(MTAP):c.561C>T (p.Arg187=)
|
rs10965163
|
0.05936
|
NM_002834.5(PTPN11):c.14+25G>C
|
rs7972574
|
0.05545
|
NM_002834.5(PTPN11):c.854-21C>T
|
rs41279090
|
0.05308
|
NM_002451.4(MTAP):c.*797C>T
|
rs58555715
|
0.05202
|
NM_005373.3(MPL):c.690A>G (p.Glu230=)
|
rs16830693
|
0.05134
|
NM_001754.5(RUNX1):c.1389C>G (p.Pro463=)
|
rs61750222
|
0.04709
|
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala)
|
rs41281314
|
0.04612
|
NM_002834.5(PTPN11):c.14+54C>A
|
rs7973432
|
0.04259
|
NM_002834.5(PTPN11):c.1093-9C>A
|
rs12301915
|
0.04151
|
NM_000127.3(EXT1):c.-266C>T
|
rs76805972
|
0.04072
|
NM_058172.6(ANTXR2):c.*1663G>A
|
rs113322831
|
0.03500
|
NM_005188.4(CBL):c.2592C>T (p.Leu864=)
|
rs1893177
|
0.03391
|
NM_003977.4(AIP):c.516C>T (p.Asp172=)
|
rs2276020
|
0.03152
|
NM_002451.4(MTAP):c.*3916C>T
|
rs80226037
|
0.02945
|
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_002451.4(MTAP):c.*2539A>G
|
rs10123713
|
0.02620
|
NM_002609.4(PDGFRB):c.1391C>T (p.Thr464Met)
|
rs74943037
|
0.02595
|
NM_002609.4(PDGFRB):c.1854G>A (p.Thr618=)
|
rs56072663
|
0.02433
|
NM_003977.4(AIP):c.132C>T (p.Asp44=)
|
rs11822907
|
0.02357
|
NM_022124.6(CDH23):c.429+18T>C
|
rs141451003
|
0.02288
|
NM_002834.5(PTPN11):c.255C>T (p.His85=)
|
rs61736914
|
0.02271
|
NM_005373.3(MPL):c.340G>A (p.Val114Met)
|
rs12731981
|
0.02191
|
NM_198253.3(TERT):c.2031C>T (p.Gly677=)
|
rs33956095
|
0.02136
|
NM_000127.3(EXT1):c.-635C>T
|
rs188740055
|
0.02060
|
NM_002451.4(MTAP):c.*2255A>G
|
rs79020697
|
0.02054
|
NM_005188.4(CBL):c.869+4A>G
|
rs77284821
|
0.02038
|
NM_004364.5(CEBPA):c.573C>T (p.His191=)
|
rs192240793
|
0.02004
|
NM_002609.4(PDGFRB):c.1453G>A (p.Glu485Lys)
|
rs41287110
|
0.01976
|
NM_058172.6(ANTXR2):c.*677C>T
|
rs149404014
|
0.01921
|
NM_024529.5(CDC73):c.*1267A>G
|
rs78218016
|
0.01764
|
NM_198253.3(TERT):c.1950+10C>T
|
rs33948291
|
0.01758
|
NM_002520.7(NPM1):c.847-5T>C
|
rs191111314
|
0.01680
|
NM_000127.3(EXT1):c.114A>G (p.Glu38=)
|
rs17506447
|
0.01623
|
NM_058172.6(ANTXR2):c.-590A>T
|
rs142313419
|
0.01544
|
NM_017617.5(NOTCH1):c.4129C>T (p.Pro1377Ser)
|
rs61751542
|
0.01511
|
NM_000127.3(EXT1):c.-509C>G
|
rs78824154
|
0.01491
|
NM_207122.2(EXT2):c.124A>G (p.Met42Val)
|
rs4755779
|
0.01478
|
NM_000388.4(CASR):c.1333A>G (p.Thr445Ala)
|
rs12493789
|
0.01436
|
NM_005373.3(MPL):c.117G>T (p.Lys39Asn)
|
rs17292650
|
0.01420
|
NM_058172.6(ANTXR2):c.225-4G>A
|
rs141355689
|
0.01410
|
NM_002451.4(MTAP):c.*657T>C
|
rs146095448
|
0.01370
|
NM_207122.2(EXT2):c.264C>T (p.His88=)
|
rs35455466
|
0.01345
|
NM_207122.2(EXT2):c.1761G>A (p.Thr587=)
|
rs16937864
|
0.01303
|
NM_002451.4(MTAP):c.*2873C>T
|
rs75664572
|
0.01292
|
NM_004752.4(GCM2):c.1060A>G (p.Met354Val)
|
rs61734278
|
0.01292
|
NM_207122.2(EXT2):c.999T>C (p.Asp333=)
|
rs61733300
|
0.01271
|
NM_024529.5(CDC73):c.*580A>T
|
rs191600804
|
0.01264
|
NM_001754.5(RUNX1):c.167T>C (p.Leu56Ser)
|
rs111527738
|
0.01206
|
NM_002451.4(MTAP):c.*3851C>G
|
rs76751525
|
0.01197
|
NM_058172.6(ANTXR2):c.331C>T (p.Arg111Cys)
|
rs61741646
|
0.01167
|
NM_207122.2(EXT2):c.1174-18G>T
|
rs143595300
|
0.01161
|
NM_024529.5(CDC73):c.*2950A>G
|
rs144681513
|
0.01153
|
NM_024529.5(CDC73):c.*3507G>T
|
rs151216299
|
0.01140
|
NM_001754.5(RUNX1):c.927C>T (p.Gly309=)
|
rs59802347
|
0.01119
|
NM_080425.4(GNAS):c.1376C>G (p.Pro459Arg)
|
rs148033592
|
0.01117
|
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met)
|
rs41281330
|
0.01037
|
NM_002834.5(PTPN11):c.525+12G>C
|
rs41304351
|
0.01035
|
NM_058172.6(ANTXR2):c.796+9C>T
|
rs113482034
|
0.01026
|
NM_000388.4(CASR):c.2610G>A (p.Glu870=)
|
rs143738711
|
0.01002
|
NM_002520.7(NPM1):c.543T>C (p.Phe181=)
|
rs61755048
|
0.00991
|
NM_000791.4(DHFR):c.-416C>G
|
rs2001675
|
0.00949
|
NM_002451.4(MTAP):c.*1181A>G
|
rs182505150
|
0.00948
|
NM_207122.2(EXT2):c.1017T>C (p.Cys339=)
|
rs11828047
|
0.00930
|
NM_001042492.3(NF1):c.2022C>T (p.Ser674=)
|
rs2230851
|
0.00908
|
NM_002451.4(MTAP):c.*3144G>A
|
rs148910202
|
0.00907
|
NM_002609.4(PDGFRB):c.102C>T (p.Val34=)
|
rs17708515
|
0.00869
|
NM_000546.6(TP53):c.97-6C>T
|
rs35117667
|
0.00847
|
NM_198253.3(TERT):c.1659C>T (p.Val553=)
|
rs35809415
|
0.00838
|
NM_002451.4(MTAP):c.*1341C>T
|
rs111408881
|
0.00837
|
NM_022124.6(CDH23):c.4846-19G>C
|
rs80261750
|
0.00835
|
NM_002609.4(PDGFRB):c.1033C>T (p.Pro345Ser)
|
rs2229558
|
0.00834
|
NM_005373.3(MPL):c.543T>C (p.Gly181=)
|
rs17572791
|
0.00819
|
NM_207122.2(EXT2):c.*472C>T
|
rs74424177
|
0.00819
|
NM_004364.5(CEBPA):c.693C>G (p.Pro231=)
|
rs550308123
|
0.00808
|
NM_002609.4(PDGFRB):c.1149G>C (p.Leu383=)
|
rs2228439
|
0.00793
|
NM_058172.6(ANTXR2):c.808G>A (p.Val270Ile)
|
rs113707133
|
0.00790
|
NM_058172.6(ANTXR2):c.*947T>C
|
rs114449405
|
0.00787
|
NM_004364.5(CEBPA):c.756G>T (p.Ala252=)
|
rs571969199
|
0.00778
|
NM_004364.5(CEBPA):c.1041G>A (p.Glu347=)
|
rs141430731
|
0.00752
|
NM_001042492.3(NF1):c.7322-17C>T
|
rs17884859
|
0.00744
|
NM_000215.4(JAK3):c.2164G>A (p.Val722Ile)
|
rs3213409
|
0.00743
|
NM_005188.4(CBL):c.513T>C (p.Ser171=)
|
rs2227987
|
0.00741
|
NM_198253.3(TERT):c.2097C>T (p.Ala699=)
|
rs33963617
|
0.00739
|
NM_005157.6(ABL1):c.1899C>T (p.Ala633=)
|
rs2229068
|
0.00732
|
NM_058172.6(ANTXR2):c.*2303A>C
|
rs115504770
|
0.00686
|
NM_000516.7(GNAS):c.951C>T (p.Arg317=)
|
rs75561530
|
0.00680
|
NM_004327.4(BCR):c.606C>T (p.Ser202=)
|
rs147507158
|
0.00655
|
NM_058172.6(ANTXR2):c.*5547T>C
|
rs114779758
|
0.00613
|
NM_000516.7(GNAS):c.384G>A (p.Val128=)
|
rs3730166
|
0.00609
|
NM_005373.3(MPL):c.1309-10C>T
|
rs139486615
|
0.00602
|
NM_003977.4(AIP):c.*64G>A
|
rs115346238
|
0.00596
|
NM_000516.7(GNAS):c.366C>T (p.Pro122=)
|
rs35287986
|
0.00583
|
NM_002609.4(PDGFRB):c.365-4G>T
|
rs139448702
|
0.00583
|
NM_003977.4(AIP):c.*60G>C
|
rs146014363
|
0.00566
|
NM_000127.3(EXT1):c.117A>G (p.Glu39=)
|
rs78429222
|
0.00558
|
NM_002451.4(MTAP):c.*1936C>T
|
rs117552951
|
0.00557
|
NM_005188.4(CBL):c.1485G>A (p.Pro495=)
|
rs2229072
|
0.00547
|
NM_003977.4(AIP):c.891C>A (p.Ala297=)
|
rs35665586
|
0.00545
|
NM_080425.4(GNAS):c.1798C>G (p.Arg600Gly)
|
rs74897360
|
0.00538
|
NM_207122.2(EXT2):c.1110G>T (p.Met370Ile)
|
rs34084767
|
0.00538
|
NM_002609.4(PDGFRB):c.3119G>T (p.Gly1040Val)
|
rs149417689
|
0.00523
|
NM_022124.6(CDH23):c.1449+76C>A
|
rs41281304
|
0.00518
|
NM_002451.4(MTAP):c.768T>G (p.Pro256=)
|
rs62556500
|
0.00511
|
NM_024529.5(CDC73):c.1185A>G (p.Gln395=)
|
rs116358657
|
0.00511
|
NM_004972.4(JAK2):c.3188G>A (p.Arg1063His)
|
rs41316003
|
0.00500
|
NM_002451.4(MTAP):c.*393G>C
|
rs78389853
|
0.00498
|
NM_002451.4(MTAP):c.*1643G>T
|
rs79546636
|
0.00491
|
NM_005373.3(MPL):c.1565+5C>T
|
rs41269541
|
0.00488
|
NM_005373.3(MPL):c.210G>A (p.Pro70=)
|
rs6086
|
0.00482
|
NM_207122.2(EXT2):c.-148G>A
|
rs115238130
|
0.00479
|
NM_058172.6(ANTXR2):c.*2446C>T
|
rs186733755
|
0.00476
|
NM_001754.5(RUNX1):c.183G>A (p.Pro61=)
|
rs76558016
|
0.00454
|
NM_005188.4(CBL):c.2710G>A (p.Val904Ile)
|
rs17122769
|
0.00454
|
NM_058172.6(ANTXR2):c.*1558C>T
|
rs150281545
|
0.00454
|
NM_015922.3(NSDHL):c.1054C>T (p.Leu352=)
|
rs142351862
|
0.00444
|
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)
|
rs17879961
|
0.00434
|
NM_080425.4(GNAS):c.1221C>G (p.Thr407=)
|
rs200430001
|
0.00433
|
NM_001042492.3(NF1):c.2985G>C (p.Leu995=)
|
rs17881467
|
0.00426
|
NM_024529.5(CDC73):c.*2304T>G
|
rs144363422
|
0.00424
|
NM_058172.6(ANTXR2):c.*4630A>T
|
rs190569143
|
0.00423
|
NM_006185.4(NUMA1):c.2937T>C (p.Asn979=)
|
rs142372284
|
0.00416
|
NM_006185.4(NUMA1):c.5285G>A (p.Arg1762His)
|
rs149588226
|
0.00414
|
NM_000127.3(EXT1):c.1959G>A (p.Glu653=)
|
rs142710059
|
0.00404
|
NM_001754.5(RUNX1):c.351+15A>G
|
rs199881885
|
0.00396
|
NM_080425.4(GNAS):c.1455C>A (p.Ala485=)
|
rs55890501
|
0.00388
|
NM_058172.6(ANTXR2):c.*1563A>G
|
rs143402499
|
0.00386
|
NM_005157.6(ABL1):c.249T>G (p.Thr83=)
|
rs111886835
|
0.00382
|
NM_058172.6(ANTXR2):c.*2245G>A
|
rs116794675
|
0.00380
|
NM_022153.2(VSIR):c.839C>T (p.Ser280Leu)
|
rs143240262
|
0.00376
|
NM_002168.4(IDH2):c.1304C>T (p.Thr435Met)
|
rs118053940
|
0.00372
|
NM_207122.2(EXT2):c.*56G>A
|
rs77554103
|
0.00371
|
NM_005373.3(MPL):c.1653+3G>A
|
rs149625825
|
0.00367
|
NM_003977.4(AIP):c.100-18C>T
|
rs202156895
|
0.00359
|
NM_002451.4(MTAP):c.*3862C>T
|
rs560167088
|
0.00339
|
NM_207122.2(EXT2):c.*101G>C
|
rs117755165
|
0.00332
|
NM_058172.6(ANTXR2):c.*3902C>T
|
rs191348548
|
0.00329
|
NM_032638.5(GATA2):c.710G>A (p.Gly237Asp)
|
rs191501191
|
0.00327
|
NM_198253.3(TERT):c.1234C>T (p.His412Tyr)
|
rs34094720
|
0.00316
|
NM_001042492.3(NF1):c.340C>T (p.Leu114=)
|
rs7207410
|
0.00309
|
NM_005157.6(ABL1):c.822+16C>G
|
rs12551730
|
0.00309
|
NM_006206.6(PDGFRA):c.661C>T (p.Leu221Phe)
|
rs139913632
|
0.00307
|
NM_004364.5(CEBPA):c.402G>A (p.Ala134=)
|
rs752254340
|
0.00295
|
NM_002609.4(PDGFRB):c.946G>A (p.Val316Met)
|
rs41287112
|
0.00287
|
NM_004304.5(ALK):c.3837-9_3837-7dup
|
rs373764155
|
0.00279
|
NM_058172.6(ANTXR2):c.*5223G>T
|
rs192983822
|
0.00277
|
NM_002451.4(MTAP):c.*707A>G
|
rs138936486
|
0.00275
|
NM_058172.6(ANTXR2):c.*5761A>G
|
rs541962244
|
0.00275
|
NM_002451.4(MTAP):c.*1038A>G
|
rs180861815
|
0.00264
|
NM_000551.4(VHL):c.74C>T (p.Pro25Leu)
|
rs35460768
|
0.00261
|
NM_004752.4(GCM2):c.943A>G (p.Asn315Asp)
|
rs114070356
|
0.00258
|
NM_002451.4(MTAP):c.*804T>C
|
rs142144597
|
0.00253
|
NM_024529.5(CDC73):c.308-16C>A
|
rs201766013
|
0.00252
|
NM_002609.4(PDGFRB):c.2523G>A (p.Lys841=)
|
rs41287108
|
0.00236
|
NM_207122.2(EXT2):c.710C>T (p.Ser237Leu)
|
rs139525250
|
0.00236
|
NM_005188.4(CBL):c.869+19A>G
|
rs181589369
|
0.00232
|
NM_000127.3(EXT1):c.-324C>G
|
rs144282710
|
0.00224
|
NM_198253.3(TERT):c.969G>A (p.Pro323=)
|
rs148549782
|
0.00224
|
NM_198253.3(TERT):c.1574-7G>A
|
rs34846301
|
0.00220
|
NM_001530.4(HIF1A):c.1264G>T (p.Asp422Tyr)
|
rs149348765
|
0.00218
|
NM_024529.5(CDC73):c.*2085G>C
|
rs150030810
|
0.00217
|
NM_004364.5(CEBPA):c.612G>C (p.Pro204=)
|
rs552634598
|
0.00214
|
NM_024529.5(CDC73):c.*3419T>A
|
rs566373225
|
0.00205
|
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu)
|
rs17883862
|
0.00201
|
NM_001754.5(RUNX1):c.303G>T (p.Val101=)
|
rs142472642
|
0.00200
|
NM_003977.4(AIP):c.47G>A (p.Arg16His)
|
rs145047094
|
0.00197
|
NM_005373.3(MPL):c.1654-10T>A
|
rs200460456
|
0.00196
|
NM_024529.5(CDC73):c.*12C>A
|
rs193025205
|
0.00196
|
NM_001042492.3(NF1):c.5035A>G (p.Ile1679Val)
|
rs147327414
|
0.00195
|
NM_024529.5(CDC73):c.*518A>G
|
rs190433473
|
0.00195
|
NM_003783.3(B3GALT2):c.367T>G (p.Tyr123Asp)
|
rs41265203
|
0.00192
|
NM_080425.4(GNAS):c.484A>G (p.Met162Val)
|
rs138731520
|
0.00192
|
NM_001042492.3(NF1):c.7531G>C (p.Val2511Leu)
|
rs2230850
|
0.00189
|
NM_005188.4(CBL):c.1359A>C (p.Pro453=)
|
rs34732429
|
0.00188
|
NM_058172.6(ANTXR2):c.*1126T>A
|
rs192905651
|
0.00188
|
NM_005373.3(MPL):c.677C>A (p.Ser226Tyr)
|
rs141063159
|
0.00183
|
NM_007194.4(CHEK2):c.1100del (p.Thr367fs)
|
rs555607708
|
0.00181
|
NM_001375462.1(LPP):c.451T>C (p.Ser151Pro)
|
rs35746269
|
0.00180
|
NM_058172.6(ANTXR2):c.*2226A>T
|
rs533517816
|
0.00179
|
NM_198253.3(TERT):c.2517G>A (p.Thr839=)
|
rs140124989
|
0.00178
|
NM_058172.6(ANTXR2):c.916G>C (p.Gly306Arg)
|
rs202143525
|
0.00175
|
NM_207122.2(EXT2):c.2019-14T>C
|
rs141747687
|
0.00173
|
NM_002451.4(MTAP):c.*3307G>T
|
rs41270139
|
0.00172
|
NM_002451.4(MTAP):c.*895G>A
|
rs41270137
|
0.00170
|
NM_005188.4(CBL):c.2484G>A (p.Pro828=)
|
rs149533467
|
0.00166
|
NM_000388.4(CASR):c.748G>A (p.Glu250Lys)
|
rs62269092
|
0.00163
|
NM_058172.6(ANTXR2):c.*242A>G
|
rs139631974
|
0.00151
|
NM_058172.6(ANTXR2):c.*702A>C
|
rs537492648
|
0.00146
|
NM_017617.5(NOTCH1):c.52G>A (p.Ala18Thr)
|
rs754613772
|
0.00145
|
NM_015922.3(NSDHL):c.893G>T (p.Trp298Leu)
|
rs139186585
|
0.00143
|
NM_024529.5(CDC73):c.*1365T>C
|
rs180929933
|
0.00143
|
NM_004752.4(GCM2):c.306G>A (p.Arg102=)
|
rs149143032
|
0.00142
|
NM_207122.2(EXT2):c.918C>T (p.Phe306=)
|
rs35436405
|
0.00139
|
NM_015922.3(NSDHL):c.306C>T (p.Phe102=)
|
rs141089248
|
0.00138
|
NM_005188.4(CBL):c.2190G>C (p.Thr730=)
|
rs143840974
|
0.00137
|
NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys)
|
rs200649500
|
0.00136
|
NM_058172.6(ANTXR2):c.*3649T>A
|
rs147800526
|
0.00135
|
NM_024529.5(CDC73):c.-95G>A
|
rs143969598
|
0.00133
|
NM_058172.6(ANTXR2):c.324T>C (p.Asp108=)
|
rs184413338
|
0.00131
|
NM_207122.2(EXT2):c.*646C>T
|
rs189528648
|
0.00131
|
NM_000388.4(CASR):c.1775A>G (p.Asn592Ser)
|
rs117375173
|
0.00128
|
NM_000127.3(EXT1):c.-678C>T
|
rs886062644
|
0.00127
|
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=)
|
rs55865524
|
0.00127
|
NM_005373.3(MPL):c.754T>C (p.Tyr252His)
|
rs141311765
|
0.00124
|
NM_000127.3(EXT1):c.1633-26C>A
|
rs188609829
|
0.00123
|
NM_000546.6(TP53):c.139C>T (p.Pro47Ser)
|
rs1800371
|
0.00123
|
NM_001042492.3(NF1):c.1810T>C (p.Leu604=)
|
rs142712751
|
0.00123
|
NM_005188.4(CBL):c.1858C>T (p.Leu620Phe)
|
rs2227988
|
0.00121
|
NM_058172.6(ANTXR2):c.*4576A>G
|
rs181895498
|
0.00119
|
NM_198253.3(TERT):c.2769G>A (p.Pro923=)
|
rs200174990
|
0.00118
|
NM_024529.5(CDC73):c.*1472T>G
|
rs576716003
|
0.00117
|
NM_003977.4(AIP):c.68G>A (p.Gly23Glu)
|
rs116940576
|
0.00115
|
NM_003977.4(AIP):c.911G>A (p.Arg304Gln)
|
rs104894190
|
0.00115
|
NM_024529.5(CDC73):c.*2446C>T
|
rs572307472
|
0.00114
|
NM_207122.2(EXT2):c.1178G>A (p.Arg393Gln)
|
rs138187791
|
0.00113
|
NM_004972.4(JAK2):c.1641+6T>C
|
rs182123615
|
0.00109
|
NM_000388.4(CASR):c.-154T>A
|
rs186365367
|
0.00101
|
NM_033360.4(KRAS):c.5-18A>G
|
rs200189105
|
0.00100
|
NM_198253.3(TERT):c.572G>C (p.Ser191Thr)
|
rs11952056
|
0.00100
|
NM_000388.4(CASR):c.6A>C (p.Ala2=)
|
rs112042188
|
0.00098
|
NM_002451.4(MTAP):c.*1453C>T
|
rs753610558
|
0.00096
|
NM_002834.5(PTPN11):c.526-17T>C
|
rs375184329
|
0.00096
|
NM_024529.5(CDC73):c.33C>T (p.Tyr11=)
|
rs150951102
|
0.00094
|
NM_002451.4(MTAP):c.691-13A>G
|
rs77412364
|
0.00093
|
NM_198253.3(TERT):c.1884C>T (p.Asp628=)
|
rs143992655
|
0.00088
|
NM_207122.2(EXT2):c.1641C>T (p.Asp547=)
|
rs75987184
|
0.00088
|
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln)
|
rs115230894
|
0.00086
|
NM_003977.4(AIP):c.-84C>G
|
rs540839310
|
0.00086
|
NM_003977.4(AIP):c.301G>A (p.Val101Met)
|
rs147931650
|
0.00085
|
NM_000127.3(EXT1):c.-655C>A
|
rs886062642
|
0.00084
|
NM_002451.4(MTAP):c.*3072G>A
|
rs768885564
|
0.00083
|
NM_198253.3(TERT):c.1849C>T (p.Leu617=)
|
rs140951453
|
0.00083
|
NM_004364.5(CEBPA):c.-39C>A
|
rs41434054
|
0.00082
|
NM_005373.3(MPL):c.1120A>G (p.Thr374Ala)
|
rs190983971
|
0.00082
|
NM_005475.3(SH2B3):c.1198G>A (p.Glu400Lys)
|
rs72650673
|
0.00080
|
NM_207122.2(EXT2):c.1588G>A (p.Glu530Lys)
|
rs148711133
|
0.00079
|
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr)
|
rs181255269
|
0.00078
|
NM_024529.5(CDC73):c.*1132G>T
|
rs1017988008
|
0.00078
|
NM_005188.4(CBL):c.2269G>A (p.Ala757Thr)
|
rs146517083
|
0.00076
|
NM_207122.2(EXT2):c.965G>A (p.Arg322His)
|
rs149727518
|
0.00076
|
NM_024529.5(CDC73):c.*3266A>G
|
rs532839308
|
0.00075
|
NM_005188.4(CBL):c.1641T>C (p.Pro547=)
|
rs61755280
|
0.00074
|
NM_000388.4(CASR):c.1285C>T (p.His429Tyr)
|
rs142818334
|
0.00073
|
NM_001754.5(RUNX1):c.1086G>C (p.Ser362=)
|
rs143947839
|
0.00072
|
NM_005373.3(MPL):c.962G>A (p.Arg321Gln)
|
rs149265851
|
0.00072
|
NM_016592.5(GNAS):c.537G>A (p.Pro179=)
|
rs181594534
|
0.00072
|
NM_024529.5(CDC73):c.*3524A>G
|
rs548190260
|
0.00071
|
NM_058172.6(ANTXR2):c.*2225A>G
|
rs543254931
|
0.00071
|
NM_024529.5(CDC73):c.1032T>G (p.Val344=)
|
rs148612206
|
0.00070
|
NM_207122.2(EXT2):c.358G>A (p.Val120Ile)
|
rs115948531
|
0.00070
|
NM_022124.6(CDH23):c.5410C>T (p.Arg1804Trp)
|
rs376271562
|
0.00068
|
NM_000127.3(EXT1):c.1359C>T (p.Phe453=)
|
rs148922894
|
0.00067
|
NM_002451.3(MTAP):c.-117T>C
|
rs545625466
|
0.00066
|
NM_005475.3(SH2B3):c.622G>C (p.Glu208Gln)
|
rs202080221
|
0.00066
|
NM_003977.4(AIP):c.896C>T (p.Ala299Val)
|
rs148986773
|
0.00065
|
NM_007194.4(CHEK2):c.-6G>A
|
rs376995740
|
0.00065
|
NM_058172.6(ANTXR2):c.*2550T>C
|
rs559781709
|
0.00065
|
NM_003977.4(AIP):c.-23A>G
|
rs200665479
|
0.00064
|
NM_000127.3(EXT1):c.741G>A (p.Glu247=)
|
rs148473091
|
0.00063
|
NM_001754.5(RUNX1):c.654C>T (p.Ser218=)
|
rs145230602
|
0.00063
|
NM_002451.4(MTAP):c.*2238C>T
|
rs150727017
|
0.00063
|
NM_207122.2(EXT2):c.1760C>T (p.Thr587Met)
|
rs138495222
|
0.00063
|
NM_058172.6(ANTXR2):c.*5525G>A
|
rs533063623
|
0.00062
|
NM_000388.4(CASR):c.*923T>C
|
rs201230484
|
0.00061
|
NM_003200.5(TCF3):c.1422C>A (p.Asp474Glu)
|
rs537417919
|
0.00061
|
NM_005373.3(MPL):c.1003G>A (p.Glu335Lys)
|
rs139770726
|
0.00059
|
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His)
|
rs202052174
|
0.00059
|
NM_000127.3(EXT1):c.1782G>A (p.Ala594=)
|
rs61753261
|
0.00058
|
NM_207122.2(EXT2):c.1005A>G (p.Leu335=)
|
rs141977888
|
0.00058
|
NM_015922.3(NSDHL):c.834C>T (p.Phe278=)
|
rs149698967
|
0.00057
|
NM_000127.3(EXT1):c.1779C>T (p.Pro593=)
|
rs143881630
|
0.00056
|
NM_005373.3(MPL):c.1488C>T (p.Thr496=)
|
rs140091584
|
0.00056
|
NM_024529.5(CDC73):c.-11G>A
|
rs80356643
|
0.00056
|
NM_198253.3(TERT):c.1836C>G (p.Ala612=)
|
rs34170122
|
0.00056
|
NM_003977.4(AIP):c.807C>T (p.Phe269=)
|
rs139407567
|
0.00055
|
NM_005373.3(MPL):c.1570C>T (p.Leu524=)
|
rs146372205
|
0.00055
|
NM_003977.4(AIP):c.382C>T (p.Arg128Cys)
|
rs140530307
|
0.00054
|
NM_005896.4(IDH1):c.565A>G (p.Ile189Val)
|
rs62193615
|
0.00054
|
NM_002451.4(MTAP):c.*3052C>T
|
rs182636316
|
0.00053
|
NM_004364.5(CEBPA):c.729C>A (p.Ala243=)
|
rs1248693843
|
0.00053
|
NM_005373.3(MPL):c.793C>T (p.Leu265Phe)
|
rs117656396
|
0.00053
|
NM_001042492.3(NF1):c.7461A>G (p.Thr2487=)
|
rs149924365
|
0.00052
|
NM_058172.6(ANTXR2):c.1347+9C>T
|
rs112023055
|
0.00052
|
NM_000388.4(CASR):c.915C>A (p.Ile305=)
|
rs200528343
|
0.00051
|
NM_004752.4(GCM2):c.1181A>C (p.Tyr394Ser)
|
rs142287570
|
0.00050
|
NM_002451.4(MTAP):c.*1065A>G
|
rs187215052
|
0.00049
|
NM_005373.3(MPL):c.1336G>A (p.Gly446Arg)
|
rs561818288
|
0.00049
|
NM_000127.3(EXT1):c.-731G>A
|
rs886062645
|
0.00048
|
NM_001370259.2(MEN1):c.*470A>G
|
rs778272737
|
0.00048
|
NM_002451.4(MTAP):c.*328T>C
|
rs150414950
|
0.00048
|
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met)
|
rs148176616
|
0.00048
|
NM_004972.4(JAK2):c.380G>A (p.Gly127Asp)
|
rs56118985
|
0.00048
|
NM_005188.4(CBL):c.1227+4C>T
|
rs201747825
|
0.00048
|
NM_022124.6(CDH23):c.832+8A>G
|
rs56129333
|
0.00048
|
NM_058172.6(ANTXR2):c.*3602A>G
|
rs574894829
|
0.00048
|
NM_058172.6(ANTXR2):c.*4058A>T
|
rs75657044
|
0.00048
|
NM_207122.2(EXT2):c.1534G>T (p.Val512Leu)
|
rs147753803
|
0.00048
|
NM_002834.5(PTPN11):c.1379+20C>T
|
rs184743462
|
0.00047
|
NM_005188.4(CBL):c.*615C>T
|
rs769151797
|
0.00047
|
NM_207122.2(EXT2):c.1087G>A (p.Val363Met)
|
rs138943091
|
0.00046
|
NM_000222.3(KIT):c.200C>G (p.Thr67Ser)
|
rs144933028
|
0.00045
|
NM_015922.3(NSDHL):c.351T>C (p.Phe117=)
|
rs138711934
|
0.00045
|
NM_000388.4(CASR):c.1733-9A>G
|
rs190731787
|
0.00044
|
NM_002451.4(MTAP):c.*2651G>A
|
rs569725867
|
0.00044
|
NM_015922.3(NSDHL):c.678C>T (p.Phe226=)
|
rs147293409
|
0.00044
|
NM_207122.2(EXT2):c.1022C>T (p.Pro341Leu)
|
rs141035971
|
0.00044
|
NM_004364.5(CEBPA):c.667G>A (p.Gly223Ser)
|
rs535980233
|
0.00043
|
NM_004752.4(GCM2):c.319G>A (p.Asp107Asn)
|
rs61741855
|
0.00043
|
NM_022124.6(CDH23):c.3022G>A (p.Val1008Met)
|
rs201053044
|
0.00043
|
NM_005373.3(MPL):c.1197G>A (p.Arg399=)
|
rs148945299
|
0.00042
|
NM_024529.5(CDC73):c.*453A>C
|
rs547363180
|
0.00042
|
NM_000127.3(EXT1):c.1536+7G>A
|
rs200128437
|
0.00041
|
NM_001754.5(RUNX1):c.1269C>T (p.Arg423=)
|
rs544247912
|
0.00040
|
NM_000388.4(CASR):c.*1201C>T
|
rs886057837
|
0.00039
|
NM_000551.4(VHL):c.241C>T (p.Pro81Ser)
|
rs104893829
|
0.00039
|
NM_005373.3(MPL):c.1102G>T (p.Val368Leu)
|
rs149810307
|
0.00039
|
NM_207122.2(EXT2):c.1527A>G (p.Leu509=)
|
rs145649534
|
0.00039
|
NM_003977.4(AIP):c.36G>A (p.Gly12=)
|
rs79662690
|
0.00038
|
NM_022124.6(CDH23):c.7049C>T (p.Ser2350Leu)
|
rs371522435
|
0.00038
|
NM_000127.3(EXT1):c.-358T>C
|
rs886062639
|
0.00037
|
NM_000388.4(CASR):c.2064C>T (p.Phe688=)
|
rs150869744
|
0.00037
|
NM_003977.4(AIP):c.26G>A (p.Arg9Gln)
|
rs139459091
|
0.00037
|
NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val)
|
rs111033536
|
0.00037
|
NM_002451.4(MTAP):c.*1729G>A
|
rs182527165
|
0.00036
|
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)
|
rs77375493
|
0.00036
|
NM_005188.4(CBL):c.12C>T (p.Asn4=)
|
rs371567712
|
0.00036
|
NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu)
|
rs564605612
|
0.00036
|
NM_024529.5(CDC73):c.*1761T>C
|
rs528066706
|
0.00036
|
NM_024529.5(CDC73):c.873C>T (p.Asn291=)
|
rs149400412
|
0.00036
|
NM_198253.3(TERT):c.2582+11C>T
|
rs180675821
|
0.00036
|
NM_207122.2(EXT2):c.744-10T>G
|
rs200943294
|
0.00036
|
NM_002168.4(IDH2):c.673G>A (p.Asp225Asn)
|
rs142816010
|
0.00035
|
NM_005373.3(MPL):c.305G>C (p.Arg102Pro)
|
rs28928907
|
0.00035
|
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys)
|
rs41281336
|
0.00035
|
NM_207122.2(EXT2):c.150C>T (p.Ile50=)
|
rs138982530
|
0.00035
|
NM_000388.4(CASR):c.2824G>A (p.Glu942Lys)
|
rs76327999
|
0.00034
|
NM_003977.4(AIP):c.517G>A (p.Glu173Lys)
|
rs138902236
|
0.00034
|
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr)
|
rs200050883
|
0.00034
|
NM_207122.2(EXT2):c.*1153A>T
|
rs185285766
|
0.00034
|
NM_004260.4(RECQL4):c.1573del (p.Cys525fs)
|
rs386833845
|
0.00033
|
NM_000127.3(EXT1):c.-642G>A
|
rs534171475
|
0.00032
|
NM_001042492.3(NF1):c.1933A>G (p.Met645Val)
|
rs146051850
|
0.00032
|
NM_000127.3(EXT1):c.*151T>C
|
rs751063786
|
0.00031
|
NM_004364.5(CEBPA):c.724G>A (p.Gly242Ser)
|
rs530569305
|
0.00031
|
NM_005373.3(MPL):c.1536G>A (p.Leu512=)
|
rs137990502
|
0.00031
|
NM_022124.6(CDH23):c.10021C>T (p.Arg3341Cys)
|
rs370074117
|
0.00031
|
NM_198253.3(TERT):c.1932G>A (p.Thr644=)
|
rs148582238
|
0.00031
|
NM_207122.2(EXT2):c.1912G>A (p.Val638Ile)
|
rs145024832
|
0.00031
|
NM_207122.2(EXT2):c.260T>G (p.Met87Arg)
|
rs140075817
|
0.00031
|
NM_002451.4(MTAP):c.653C>T (p.Ala218Val)
|
rs143080527
|
0.00030
|
NM_002834.5(PTPN11):c.643-6dup
|
rs758889732
|
0.00030
|
NM_015922.3(NSDHL):c.*129C>T
|
rs145978994
|
0.00030
|
NM_198253.3(TERT):c.2991G>A (p.Val997=)
|
rs376266401
|
0.00030
|
NM_000127.3(EXT1):c.-113G>C
|
rs533303304
|
0.00029
|
NM_004364.5(CEBPA):c.364G>C (p.Gly122Arg)
|
rs1013724730
|
0.00029
|
NM_005188.3(CBL):c.-122C>T
|
rs886047765
|
0.00029
|
NM_024529.5(CDC73):c.*1787A>G
|
rs747621423
|
0.00029
|
NM_058172.6(ANTXR2):c.*703C>T
|
rs745896907
|
0.00029
|
NM_207122.2(EXT2):c.1806+11G>A
|
rs372517964
|
0.00029
|
NM_207122.2(EXT2):c.509C>T (p.Thr170Ile)
|
rs113846849
|
0.00029
|
NM_000127.3(EXT1):c.99C>T (p.Ser33=)
|
rs147654656
|
0.00028
|
NM_000546.5(TP53):c.319T>C (p.Tyr107His)
|
rs368771578
|
0.00028
|
NM_004364.5(CEBPA):c.789C>T (p.Leu263=)
|
rs552131738
|
0.00028
|
NM_058172.6(ANTXR2):c.1360G>A (p.Ala454Thr)
|
rs185151361
|
0.00027
|
NM_080425.4(GNAS):c.1395A>C (p.Pro465=)
|
rs56213454
|
0.00027
|
NM_207122.2(EXT2):c.1425A>G (p.Glu475=)
|
rs533065326
|
0.00027
|
NM_207122.2(EXT2):c.843A>G (p.Leu281=)
|
rs111320923
|
0.00027
|
NM_000077.5(CDKN2A):c.318G>A (p.Val106=)
|
rs199888003
|
0.00026
|
NM_002451.4(MTAP):c.121-10T>C
|
rs201864201
|
0.00026
|
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe)
|
rs137853011
|
0.00026
|
NM_022124.6(CDH23):c.3986G>A (p.Gly1329Asp)
|
rs201877610
|
0.00026
|
NM_022124.6(CDH23):c.4621G>A (p.Val1541Met)
|
rs565657378
|
0.00026
|
NM_001042492.3(NF1):c.61-19T>C
|
rs185325140
|
0.00025
|
NM_002451.4(MTAP):c.179+12T>A
|
rs369294437
|
0.00025
|
NM_004119.3(FLT3):c.2211G>C (p.Met737Ile)
|
rs148592477
|
0.00025
|
NM_004985.5(KRAS):c.24A>G (p.Val8=)
|
rs147406419
|
0.00025
|
NM_005373.3(MPL):c.1794C>T (p.Cys598=)
|
rs143457144
|
0.00025
|
NM_022124.6(CDH23):c.3118G>T (p.Asp1040Tyr)
|
rs200177873
|
0.00025
|
NM_207122.2(EXT2):c.1645C>T (p.Leu549=)
|
rs142565472
|
0.00025
|
NM_207122.2(EXT2):c.939+19C>G
|
rs370017441
|
0.00025
|
NM_000127.3(EXT1):c.1066G>A (p.Val356Ile)
|
rs61753260
|
0.00024
|
NM_001042492.3(NF1):c.369C>G (p.Thr123=)
|
rs146691765
|
0.00024
|
NM_005373.3(MPL):c.549G>A (p.Thr183=)
|
rs147130173
|
0.00024
|
NM_005373.3(MPL):c.963G>T (p.Arg321=)
|
rs138636505
|
0.00024
|
NM_022124.6(CDH23):c.1981G>A (p.Val661Met)
|
rs369157174
|
0.00024
|
NM_024529.5(CDC73):c.*1644C>T
|
rs764317616
|
0.00024
|
NM_024529.5(CDC73):c.-10G>T
|
rs188082584
|
0.00024
|
NM_058172.6(ANTXR2):c.945+7A>G
|
rs144618912
|
0.00024
|
NM_207122.2(EXT2):c.444C>T (p.Asn148=)
|
rs145884580
|
0.00024
|
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn)
|
rs56087561
|
0.00023
|
NM_002451.4(MTAP):c.39A>C (p.Gly13=)
|
rs139020435
|
0.00023
|
NM_005373.3(MPL):c.1666G>T (p.Val556Phe)
|
rs150004498
|
0.00023
|
NM_022124.6(CDH23):c.9524G>A (p.Arg3175His)
|
rs140884994
|
0.00023
|
NM_198253.3(TERT):c.1931C>T (p.Thr644Met)
|
rs201927653
|
0.00023
|
NM_207122.2(EXT2):c.1080-16T>G
|
rs377582390
|
0.00023
|
NM_000516.7(GNAS):c.312+17T>C
|
rs78999525
|
0.00022
|
NM_002451.4(MTAP):c.*2968T>C
|
rs554780978
|
0.00022
|
NM_004364.5(CEBPA):c.561G>C (p.Pro187=)
|
rs538441046
|
0.00022
|
NM_024529.5(CDC73):c.*3791T>C
|
rs886045739
|
0.00022
|
NM_080425.4(GNAS):c.154G>A (p.Glu52Lys)
|
rs527488103
|
0.00022
|
NM_207122.2(EXT2):c.1519G>A (p.Val507Ile)
|
rs567445428
|
0.00022
|
NM_004364.5(CEBPA):c.388G>A (p.Gly130Ser)
|
rs919904139
|
0.00021
|
NM_005373.3(MPL):c.209C>T (p.Pro70Leu)
|
rs61754776
|
0.00021
|
NM_022124.6(CDH23):c.2236G>A (p.Val746Ile)
|
rs550384315
|
0.00021
|
NM_207122.2(EXT2):c.1726G>A (p.Glu576Lys)
|
rs373582542
|
0.00021
|
NM_000388.4(CASR):c.*87C>T
|
rs202045621
|
0.00020
|
NM_002451.4(MTAP):c.*1482A>G
|
rs560361151
|
0.00020
|
NM_022124.6(CDH23):c.4391C>T (p.Ala1464Val)
|
rs374362883
|
0.00020
|
NM_207122.2(EXT2):c.2013G>A (p.Val671=)
|
rs371019537
|
0.00020
|
NM_207122.2(EXT2):c.896G>A (p.Arg299His)
|
rs76901081
|
0.00020
|
NM_000127.3(EXT1):c.1319G>A (p.Arg440His)
|
rs144550328
|
0.00019
|
NM_002451.4(MTAP):c.566G>T (p.Trp189Leu)
|
rs184520335
|
0.00019
|
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His)
|
rs139366548
|
0.00019
|
NM_022124.6(CDH23):c.5470C>T (p.Arg1824Cys)
|
rs755817193
|
0.00019
|
NM_022124.6(CDH23):c.9326G>A (p.Arg3109His)
|
rs200188029
|
0.00019
|
NM_058172.6(ANTXR2):c.-442C>G
|
rs886059663
|
0.00019
|
NM_207122.2(EXT2):c.*945G>A
|
rs886048282
|
0.00019
|
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)
|
rs121434629
|
0.00018
|
NM_001754.5(RUNX1):c.-59-10C>T
|
rs578080277
|
0.00018
|
NM_002451.4(MTAP):c.*3361C>T
|
rs138870323
|
0.00018
|
NM_004364.5(CEBPA):c.468G>A (p.Arg156=)
|
rs921129497
|
0.00018
|
NM_005373.3(MPL):c.1460C>T (p.Thr487Ile)
|
rs770428240
|
0.00018
|
NM_005373.3(MPL):c.79+2T>A
|
rs146249964
|
0.00018
|
NM_024529.5(CDC73):c.*1833A>G
|
rs150894778
|
0.00018
|
NM_198253.3(TERT):c.838G>A (p.Glu280Lys)
|
rs199701877
|
0.00018
|
NM_207122.2(EXT2):c.1554G>A (p.Lys518=)
|
rs144238557
|
0.00018
|
NM_000388.4(CASR):c.*1193C>T
|
rs886057835
|
0.00017
|
NM_000388.4(CASR):c.*1197C>G
|
rs886057836
|
0.00017
|
NM_000516.7(GNAS):c.530+11G>A
|
rs74474807
|
0.00017
|
NM_002451.4(MTAP):c.*2033G>A
|
rs547939395
|
0.00017
|
NM_002451.4(MTAP):c.*2481T>C
|
rs937544830
|
0.00017
|
NM_005373.3(MPL):c.655C>G (p.Gln219Glu)
|
rs142737453
|
0.00017
|
NM_015922.3(NSDHL):c.987C>T (p.Val329=)
|
rs149122192
|
0.00017
|
NM_058172.6(ANTXR2):c.*2899A>G
|
rs529893604
|
0.00017
|
NM_058172.6(ANTXR2):c.1179+3T>C
|
rs199610196
|
0.00017
|
NM_058172.6(ANTXR2):c.195C>T (p.Phe65=)
|
rs375440055
|
0.00017
|
NM_000127.3(EXT1):c.909C>G (p.Asp303Glu)
|
rs1176457130
|
0.00016
|
NM_000388.4(CASR):c.*1169C>T
|
rs200652347
|
0.00016
|
NM_000388.4(CASR):c.27C>T (p.Val9=)
|
rs141880581
|
0.00016
|
NM_000388.4(CASR):c.573G>A (p.Glu191=)
|
rs141631116
|
0.00016
|
NM_003977.4(AIP):c.753G>A (p.Leu251=)
|
rs147351993
|
0.00016
|
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys)
|
rs121908702
|
0.00016
|
NM_022124.6(CDH23):c.4000C>T (p.Arg1334Trp)
|
rs373276722
|
0.00016
|
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln)
|
rs111033270
|
0.00016
|
NM_024529.5(CDC73):c.-143G>C
|
rs778446879
|
0.00016
|
NM_207122.2(EXT2):c.*838T>G
|
rs991198189
|
0.00016
|
NM_000127.3(EXT1):c.1612G>A (p.Val538Ile)
|
rs767492816
|
0.00015
|
NM_000264.5(PTCH1):c.2059G>A (p.Val687Met)
|
rs374691153
|
0.00015
|
NM_004364.5(CEBPA):c.64C>T (p.Pro22Ser)
|
rs770636941
|
0.00015
|
NM_004364.5(CEBPA):c.811G>C (p.Ala271Pro)
|
rs756632245
|
0.00015
|
NM_005373.3(MPL):c.619G>A (p.Asp207Asn)
|
rs201385967
|
0.00015
|
NM_000127.3(EXT1):c.1749G>C (p.Gln583His)
|
rs575895733
|
0.00014
|
NM_000222.3(KIT):c.2502G>A (p.Lys834=)
|
rs146992614
|
0.00014
|
NM_000388.4(CASR):c.1752G>A (p.Lys584=)
|
rs138638329
|
0.00014
|
NM_000546.6(TP53):c.672+18G>C
|
rs199578278
|
0.00014
|
NM_001042492.3(NF1):c.3871-15C>T
|
rs200104394
|
0.00014
|
NM_001982.4(ERBB3):c.4009G>A (p.Ala1337Thr)
|
rs755855285
|
0.00014
|
NM_002451.4(MTAP):c.*2837T>A
|
rs566068002
|
0.00014
|
NM_005157.6(ABL1):c.2117G>T (p.Gly706Val)
|
rs34634745
|
0.00014
|
NM_005188.4(CBL):c.2513G>T (p.Gly838Val)
|
rs144191570
|
0.00014
|
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser)
|
rs587780179
|
0.00014
|
NM_016169.4(SUFU):c.839G>A (p.Arg280Gln)
|
rs145704867
|
0.00014
|
NM_022124.6(CDH23):c.4405A>G (p.Ile1469Val)
|
rs200635365
|
0.00014
|
NM_022124.6(CDH23):c.4864G>A (p.Val1622Met)
|
rs199754104
|
0.00014
|
NM_024529.5(CDC73):c.989G>A (p.Arg330Gln)
|
rs149875598
|
0.00014
|
NM_207122.2(EXT2):c.2143A>G (p.Ile715Val)
|
rs199564714
|
0.00014
|
NM_207122.2(EXT2):c.889C>T (p.Arg297Cys)
|
rs146098187
|
0.00014
|
NM_000516.7(GNAS):c.1038+17_1038+20del
|
rs773644530
|
0.00013
|
NM_000516.7(GNAS):c.213-11C>T
|
rs369370389
|
0.00013
|
NM_001370259.2(MEN1):c.913-42G>C
|
rs529037188
|
0.00013
|
NM_001754.5(RUNX1):c.952T>G (p.Ser318Ala)
|
rs545554349
|
0.00013
|
NM_002451.4(MTAP):c.*1384G>C
|
rs755911467
|
0.00013
|
NM_002451.4(MTAP):c.*2912G>C
|
rs775831366
|
0.00013
|
NM_002834.5(PTPN11):c.1746C>T (p.Asn582=)
|
rs397516800
|
0.00013
|
NM_003977.4(AIP):c.906G>A (p.Val302=)
|
rs142912418
|
0.00013
|
NM_024529.5(CDC73):c.*2427T>C
|
rs372585994
|
0.00013
|
NM_024529.5(CDC73):c.*683G>A
|
rs905879297
|
0.00013
|
NM_058172.6(ANTXR2):c.-441C>T
|
rs778888047
|
0.00013
|
NM_198253.3(TERT):c.2383-15C>T
|
rs574645600
|
0.00013
|
NM_000127.3(EXT1):c.124G>A (p.Gly42Ser)
|
rs368382074
|
0.00012
|
NM_001042492.3(NF1):c.5322G>A (p.Gly1774=)
|
rs201584313
|
0.00012
|
NM_002451.4(MTAP):c.*2269A>T
|
rs760747427
|
0.00012
|
NM_003977.4(AIP):c.733G>A (p.Glu245Lys)
|
rs150645662
|
0.00012
|
NM_004304.5(ALK):c.1283-5T>C
|
rs377214413
|
0.00012
|
NM_004364.5(CEBPA):c.558G>A (p.Pro186=)
|
rs1338027134
|
0.00012
|
NM_005373.3(MPL):c.391+5G>C
|
rs752453717
|
0.00012
|
NM_005373.3(MPL):c.690+11C>T
|
rs144769485
|
0.00012
|
NM_024529.5(CDC73):c.*1985T>A
|
rs886045726
|
0.00012
|
NM_024529.5(CDC73):c.840G>A (p.Leu280=)
|
rs10921320
|
0.00012
|
NM_058172.6(ANTXR2):c.*1114G>A
|
rs753388642
|
0.00012
|
NM_000388.4(CASR):c.854G>A (p.Arg285Gln)
|
rs200039241
|
0.00011
|
NM_001042492.3(NF1):c.1005T>C (p.Asn335=)
|
rs777369021
|
0.00011
|
NM_001042492.3(NF1):c.7354C>T (p.Arg2452Cys)
|
rs377662483
|
0.00011
|
NM_001754.5(RUNX1):c.1005G>T (p.Gln335His)
|
rs80314254
|
0.00011
|
NM_002834.5(PTPN11):c.1224+15G>A
|
rs373271861
|
0.00011
|
NM_002834.5(PTPN11):c.558G>T (p.Arg186=)
|
rs200920312
|
0.00011
|
NM_003977.4(AIP):c.974G>A (p.Arg325Gln)
|
rs754619109
|
0.00011
|
NM_004364.5(CEBPA):c.709C>A (p.Pro237Thr)
|
rs921077083
|
0.00011
|
NM_005373.3(MPL):c.769C>T (p.Arg257Cys)
|
rs121913611
|
0.00011
|
NM_022124.6(CDH23):c.1672G>A (p.Val558Met)
|
rs780661396
|
0.00011
|
NM_022124.6(CDH23):c.1919C>T (p.Thr640Met)
|
rs199796910
|
0.00011
|
NM_022124.6(CDH23):c.5363C>T (p.Pro1788Leu)
|
rs564555435
|
0.00011
|
NM_022124.6(CDH23):c.6869C>T (p.Thr2290Met)
|
rs370912192
|
0.00011
|
NM_022124.6(CDH23):c.7552G>A (p.Val2518Met)
|
rs376617494
|
0.00011
|
NM_022455.5(NSD1):c.1478C>T (p.Pro493Leu)
|
rs140583358
|
0.00011
|
NM_032638.5(GATA2):c.30G>T (p.Trp10Cys)
|
rs367785289
|
0.00011
|
NM_033360.4(KRAS):c.90C>T (p.Asp30=)
|
rs113623140
|
0.00011
|
NM_058172.6(ANTXR2):c.*1133G>A
|
rs928832669
|
0.00011
|
NM_198253.3(TERT):c.2079C>T (p.Phe693=)
|
rs371759577
|
0.00011
|
NM_207122.2(EXT2):c.*129C>G
|
rs141864253
|
0.00011
|
NM_207122.2(EXT2):c.*139C>G
|
rs191451519
|
0.00011
|
NM_207122.2(EXT2):c.*440A>G
|
rs529075674
|
0.00011
|
NM_207122.2(EXT2):c.1407C>T (p.Leu469=)
|
rs148753786
|
0.00011
|
NM_000127.3(EXT1):c.1284+25G>A
|
rs375754024
|
0.00010
|
NM_000127.3(EXT1):c.1430C>G (p.Pro477Arg)
|
rs145720047
|
0.00010
|
NM_000127.3(EXT1):c.1680C>T (p.Ala560=)
|
rs540101738
|
0.00010
|
NM_000551.4(VHL):c.598C>T (p.Arg200Trp)
|
rs28940298
|
0.00010
|
NM_001042492.3(NF1):c.2541T>C (p.Leu847=)
|
rs147433258
|
0.00010
|
NM_001135608.3(ARHGAP26):c.1250A>G (p.Asn417Ser)
|
rs121918546
|
0.00010
|
NM_001754.5(RUNX1):c.1252A>G (p.Met418Val)
|
rs578042376
|
0.00010
|
NM_002451.4(MTAP):c.*102A>G
|
rs755040797
|
0.00010
|
NM_002451.4(MTAP):c.-5C>G
|
rs375344882
|
0.00010
|
NM_022124.6(CDH23):c.3115G>A (p.Val1039Met)
|
rs781597943
|
0.00010
|
NM_022124.6(CDH23):c.5228C>A (p.Thr1743Asn)
|
rs191021194
|
0.00010
|
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn)
|
rs111033271
|
0.00010
|
NM_024529.5(CDC73):c.*2420A>C
|
rs536960020
|
0.00010
|
NM_024529.5(CDC73):c.*2677G>A
|
rs192018514
|
0.00010
|
NM_024529.5(CDC73):c.-30C>T
|
rs770313192
|
0.00010
|
NM_058172.6(ANTXR2):c.*4703T>A
|
rs199645652
|
0.00010
|
NM_207122.2(EXT2):c.*731A>G
|
rs886048281
|
0.00010
|
NM_207122.2(EXT2):c.1916C>T (p.Thr639Met)
|
rs138722406
|
0.00010
|
NM_000127.3(EXT1):c.-500T>G
|
rs372210548
|
0.00009
|
NM_000127.3(EXT1):c.-536G>A
|
rs780662536
|
0.00009
|
NM_000127.3(EXT1):c.1117A>G (p.Asn373Asp)
|
rs142122090
|
0.00009
|
NM_000127.3(EXT1):c.122G>A (p.Ser41Asn)
|
rs199862937
|
0.00009
|
NM_000127.3(EXT1):c.1674A>G (p.Thr558=)
|
rs202051061
|
0.00009
|
NM_000127.3(EXT1):c.963-16C>T
|
rs369462786
|
0.00009
|
NM_000388.4(CASR):c.-137C>T
|
rs201074178
|
0.00009
|
NM_000388.4(CASR):c.1510G>A (p.Val504Met)
|
rs201536450
|
0.00009
|
NM_000388.4(CASR):c.1788C>T (p.Thr596=)
|
rs142778221
|
0.00009
|
NM_000388.4(CASR):c.2844G>A (p.Leu948=)
|
rs140586950
|
0.00009
|
NM_000546.6(TP53):c.847C>T (p.Arg283Cys)
|
rs149633775
|
0.00009
|
NM_001042492.3(NF1):c.5513C>G (p.Ser1838Cys)
|
rs368654378
|
0.00009
|
NM_002451.4(MTAP):c.*2638G>A
|
rs556394357
|
0.00009
|
NM_002451.4(MTAP):c.*2660C>A
|
rs78176424
|
0.00009
|
NM_002451.4(MTAP):c.136A>C (p.Ile46Leu)
|
rs750076531
|
0.00009
|
NM_002834.5(PTPN11):c.486C>T (p.Asp162=)
|
rs397507522
|
0.00009
|
NM_003977.4(AIP):c.827C>T (p.Ala276Val)
|
rs61741147
|
0.00009
|
NM_004364.5(CEBPA):c.277G>A (p.Ala93Thr)
|
rs758092761
|
0.00009
|
NM_004364.5(CEBPA):c.396C>T (p.Gly132=)
|
rs1060504475
|
0.00009
|
NM_004364.5(CEBPA):c.81C>T (p.Ser27=)
|
rs111662895
|
0.00009
|
NM_004364.5(CEBPA):c.942G>T (p.Val314=)
|
rs377329266
|
0.00009
|
NM_005188.4(CBL):c.873T>C (p.Tyr291=)
|
rs756526812
|
0.00009
|
NM_005373.3(MPL):c.1467C>T (p.Thr489=)
|
rs759161511
|
0.00009
|
NM_005373.3(MPL):c.1610G>A (p.Arg537Gln)
|
rs3820551
|
0.00009
|
NM_005373.3(MPL):c.1803C>T (p.Thr601=)
|
rs140794721
|
0.00009
|
NM_005373.3(MPL):c.313T>C (p.Phe105Leu)
|
rs145313814
|
0.00009
|
NM_007194.4(CHEK2):c.319+2T>A
|
rs587782401
|
0.00009
|
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)
|
rs28909982
|
0.00009
|
NM_007194.4(CHEK2):c.444+1G>A
|
rs121908698
|
0.00009
|
NM_007194.4(CHEK2):c.556A>C (p.Asn186His)
|
rs146198085
|
0.00009
|
NM_007194.4(CHEK2):c.751A>T (p.Ile251Phe)
|
rs587780189
|
0.00009
|
NM_022124.6(CDH23):c.1205C>T (p.Pro402Leu)
|
rs373168635
|
0.00009
|
NM_022124.6(CDH23):c.1213G>A (p.Val405Ile)
|
rs370549448
|
0.00009
|
NM_022124.6(CDH23):c.1282G>A (p.Asp428Asn)
|
rs188376296
|
0.00009
|
NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys)
|
rs756147087
|
0.00009
|
NM_022124.6(CDH23):c.3262G>A (p.Val1088Met)
|
rs200632520
|
0.00009
|
NM_024529.4(CDC73):c.-190G>C
|
rs886045709
|
0.00009
|
NM_024529.5(CDC73):c.*1499T>A
|
rs138503809
|
0.00009
|
NM_032638.5(GATA2):c.445G>A (p.Gly149Arg)
|
rs753645971
|
0.00009
|
NM_032638.5(GATA2):c.829A>G (p.Ser277Gly)
|
rs141800945
|
0.00009
|
NM_058172.6(ANTXR2):c.*4264T>A
|
rs1055536755
|
0.00009
|
NM_058172.6(ANTXR2):c.-505G>C
|
rs780730755
|
0.00009
|
NM_198253.3(TERT):c.3268G>A (p.Val1090Met)
|
rs121918664
|
0.00009
|
NM_207122.2(EXT2):c.283C>T (p.Arg95Cys)
|
rs376292686
|
0.00009
|
NM_000127.3(EXT1):c.1457C>T (p.Ala486Val)
|
rs188859975
|
0.00008
|
NM_000388.4(CASR):c.1188A>G (p.Thr396=)
|
rs200312817
|
0.00008
|
NM_001042492.3(NF1):c.8105A>T (p.Tyr2702Phe)
|
rs201824349
|
0.00008
|
NM_001754.5(RUNX1):c.492C>T (p.Val164=)
|
rs200907577
|
0.00008
|
NM_002451.4(MTAP):c.*3389T>C
|
rs765432220
|
0.00008
|
NM_003977.4(AIP):c.205A>G (p.Lys69Glu)
|
rs141223463
|
0.00008
|
NM_004304.5(ALK):c.1550A>G (p.His517Arg)
|
rs367674546
|
0.00008
|
NM_005188.4(CBL):c.2349C>T (p.Ala783=)
|
rs552509693
|
0.00008
|
NM_005373.3(MPL):c.1432T>A (p.Ser478Thr)
|
rs781129632
|
0.00008
|
NM_005373.3(MPL):c.1650C>T (p.Ser550=)
|
rs377715574
|
0.00008
|
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr)
|
rs531398630
|
0.00008
|
NM_007194.4(CHEK2):c.134C>T (p.Thr45Met)
|
rs558321010
|
0.00008
|
NM_022124.6(CDH23):c.3397G>A (p.Glu1133Lys)
|
rs111033509
|
0.00008
|
NM_022124.6(CDH23):c.415G>A (p.Val139Ile)
|
rs771868822
|
0.00008
|
NM_022124.6(CDH23):c.9037G>A (p.Val3013Met)
|
rs369776863
|
0.00008
|
NM_024529.5(CDC73):c.876A>G (p.Arg292=)
|
rs909578765
|
0.00008
|
NM_024675.4(PALB2):c.1042C>A (p.Gln348Lys)
|
rs375699023
|
0.00008
|
NM_058172.6(ANTXR2):c.*380T>C
|
rs1040964075
|
0.00008
|
NM_058172.6(ANTXR2):c.*559G>A
|
rs755763454
|
0.00008
|
NM_080425.4(GNAS):c.538C>T (p.Gln180Ter)
|
rs200910410
|
0.00008
|
NM_080425.4(GNAS):c.913T>C (p.Ser305Pro)
|
rs376517306
|
0.00008
|
NM_198253.3(TERT):c.1392C>T (p.Phe464=)
|
rs186596886
|
0.00008
|
NM_207122.2(EXT2):c.1372G>A (p.Ala458Thr)
|
rs146086025
|
0.00008
|
NM_207122.2(EXT2):c.1685G>A (p.Arg562Gln)
|
rs140561784
|
0.00008
|
NM_207122.2(EXT2):c.744-6T>A
|
rs755926713
|
0.00008
|
NM_000127.3(EXT1):c.-667C>G
|
rs886062643
|
0.00007
|
NM_000127.3(EXT1):c.1161A>G (p.Leu387=)
|
rs200256697
|
0.00007
|
NM_000127.3(EXT1):c.1609G>A (p.Val537Ile)
|
rs144397063
|
0.00007
|
NM_000127.3(EXT1):c.748T>A (p.Phe250Ile)
|
rs920291906
|
0.00007
|
NM_000388.4(CASR):c.3013G>A (p.Asp1005Asn)
|
rs201990892
|
0.00007
|
NM_000388.4(CASR):c.825T>C (p.Asp275=)
|
rs199836910
|
0.00007
|
NM_002451.4(MTAP):c.*1760A>G
|
rs886063788
|
0.00007
|
NM_002451.4(MTAP):c.*3057T>A
|
rs887122969
|
0.00007
|
NM_002451.4(MTAP):c.-52G>C
|
rs949068748
|
0.00007
|
NM_002451.4(MTAP):c.224A>G (p.Gln75Arg)
|
rs764365358
|
0.00007
|
NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe)
|
rs397516797
|
0.00007
|
NM_003977.4(AIP):c.572G>A (p.Arg191His)
|
rs141826817
|
0.00007
|
NM_003977.4(AIP):c.609C>T (p.Tyr203=)
|
rs146317385
|
0.00007
|
NM_004304.5(ALK):c.3115G>A (p.Val1039Met)
|
rs200080181
|
0.00007
|
NM_004304.5(ALK):c.3160G>A (p.Gly1054Ser)
|
rs375889530
|
0.00007
|
NM_004364.5(CEBPA):c.735C>T (p.Gly245=)
|
rs925688689
|
0.00007
|
NM_004364.5(CEBPA):c.918C>A (p.Arg306=)
|
rs773844593
|
0.00007
|
NM_004752.4(GCM2):c.1063G>A (p.Ala355Thr)
|
rs764488668
|
0.00007
|
NM_005373.3(MPL):c.318G>A (p.Pro106=)
|
rs370001905
|
0.00007
|
NM_007194.4(CHEK2):c.1141A>G (p.Met381Val)
|
rs375130261
|
0.00007
|
NM_016222.4(DDX41):c.415_418dup (p.Asp140delinsGlyTer)
|
rs762890562
|
0.00007
|
NM_022124.6(CDH23):c.2953G>C (p.Val985Leu)
|
rs374964318
|
0.00007
|
NM_022124.6(CDH23):c.336+1G>A
|
rs764824311
|
0.00007
|
NM_022124.6(CDH23):c.4520G>A (p.Arg1507Gln)
|
rs373480195
|
0.00007
|
NM_022124.6(CDH23):c.5131G>A (p.Val1711Ile)
|
rs181611778
|
0.00007
|
NM_022124.6(CDH23):c.5653C>T (p.Arg1885Cys)
|
rs368848049
|
0.00007
|
NM_022124.6(CDH23):c.9381-123C>A
|
rs775172553
|
0.00007
|
NM_024529.5(CDC73):c.*2625A>G
|
rs531872328
|
0.00007
|
NM_024529.5(CDC73):c.1333G>A (p.Val445Ile)
|
rs368442389
|
0.00007
|
NM_024529.5(CDC73):c.648T>A (p.Ala216=)
|
rs143149579
|
0.00007
|
NM_032638.5(GATA2):c.1367C>T (p.Pro456Leu)
|
rs372912472
|
0.00007
|
NM_058172.6(ANTXR2):c.*1099C>T
|
rs939743640
|
0.00007
|
NM_058172.6(ANTXR2):c.*2306A>G
|
rs1003608735
|
0.00007
|
NM_058172.6(ANTXR2):c.*3843G>A
|
rs540121683
|
0.00007
|
NM_198253.3(TERT):c.887A>C (p.His296Pro)
|
rs778187343
|
0.00007
|
NM_207122.2(EXT2):c.-45G>T
|
rs1276665372
|
0.00007
|
NM_207122.2(EXT2):c.605C>T (p.Ala202Val)
|
rs771803942
|
0.00007
|
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr)
|
rs199907548
|
0.00006
|
NM_000127.3(EXT1):c.1652T>A (p.Leu551Gln)
|
rs745890180
|
0.00006
|
NM_000127.3(EXT1):c.1659C>T (p.Tyr553=)
|
rs757115396
|
0.00006
|
NM_000127.3(EXT1):c.214G>A (p.Glu72Lys)
|
rs150818931
|
0.00006
|
NM_000127.3(EXT1):c.25A>T (p.Ile9Phe)
|
rs772883826
|
0.00006
|
NM_000127.3(EXT1):c.337G>A (p.Gly113Ser)
|
rs750116273
|
0.00006
|
NM_000388.4(CASR):c.-111C>A
|
rs201098532
|
0.00006
|
NM_000388.4(CASR):c.1554A>G (p.Gly518=)
|
rs138099808
|
0.00006
|
NM_000388.4(CASR):c.2209G>A (p.Val737Ile)
|
rs200318708
|
0.00006
|
NM_000388.4(CASR):c.762T>C (p.His254=)
|
rs76438850
|
0.00006
|
NM_000516.7(GNAS):c.357G>A (p.Leu119=)
|
rs368741499
|
0.00006
|
NM_001042492.3(NF1):c.7520C>T (p.Thr2507Ile)
|
rs149055633
|
0.00006
|
NM_001375462.1(LPP):c.1354C>T (p.Arg452Ter)
|
rs202115941
|
0.00006
|
NM_001754.5(RUNX1):c.649G>A (p.Gly217Arg)
|
rs749004431
|
0.00006
|
NM_001754.5(RUNX1):c.917G>A (p.Arg306His)
|
rs139336358
|
0.00006
|
NM_002168.4(IDH2):c.419G>A (p.Arg140Gln)
|
rs121913502
|
0.00006
|
NM_002451.4(MTAP):c.278C>T (p.Thr93Ile)
|
rs759117703
|
0.00006
|
NM_002451.4(MTAP):c.315C>T (p.Gly105=)
|
rs147319145
|
0.00006
|
NM_002451.4(MTAP):c.572C>T (p.Ala191Val)
|
rs200708704
|
0.00006
|
NM_002834.5(PTPN11):c.1682C>T (p.Pro561Leu)
|
rs141140214
|
0.00006
|
NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg)
|
rs397516805
|
0.00006
|
NM_002834.5(PTPN11):c.616T>C (p.Leu206=)
|
rs78376169
|
0.00006
|
NM_003977.4(AIP):c.145G>A (p.Val49Met)
|
rs1063385
|
0.00006
|
NM_003977.4(AIP):c.967C>T (p.Arg323Trp)
|
rs188965257
|
0.00006
|
NM_004304.5(ALK):c.2633-3C>T
|
rs200341945
|
0.00006
|
NM_004364.5(CEBPA):c.1018G>A (p.Gly340Ser)
|
rs375833261
|
0.00006
|
NM_004364.5(CEBPA):c.1021A>G (p.Ile341Val)
|
rs372931505
|
0.00006
|
NM_004364.5(CEBPA):c.827A>G (p.Lys276Arg)
|
rs201061067
|
0.00006
|
NM_004752.4(GCM2):c.1144G>A (p.Val382Met)
|
rs371918069
|
0.00006
|
NM_005188.4(CBL):c.1423G>A (p.Gly475Ser)
|
rs764599897
|
0.00006
|
NM_005188.4(CBL):c.6C>G (p.Ala2=)
|
rs770473070
|
0.00006
|
NM_005373.3(MPL):c.1446G>A (p.Arg482=)
|
rs1046680606
|
0.00006
|
NM_005373.3(MPL):c.1542G>A (p.Arg514=)
|
rs367960803
|
0.00006
|
NM_005373.3(MPL):c.1573A>C (p.Arg525=)
|
rs143100182
|
0.00006
|
NM_005373.3(MPL):c.304C>T (p.Arg102Cys)
|
rs763568293
|
0.00006
|
NM_005373.3(MPL):c.622C>A (p.Gln208Lys)
|
rs111460954
|
0.00006
|
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu)
|
rs587780180
|
0.00006
|
NM_007194.4(CHEK2):c.1582G>A (p.Glu528Lys)
|
rs138040612
|
0.00006
|
NM_007194.4(CHEK2):c.542G>A (p.Arg181His)
|
rs121908701
|
0.00006
|
NM_007194.4(CHEK2):c.937G>A (p.Val313Met)
|
rs752302543
|
0.00006
|
NM_017849.4(TMEM127):c.121A>G (p.Ile41Val)
|
rs760633411
|
0.00006
|
NM_022124.6(CDH23):c.1699G>A (p.Val567Met)
|
rs377148854
|
0.00006
|
NM_022124.6(CDH23):c.1867G>A (p.Val623Ile)
|
rs143782870
|
0.00006
|
NM_022124.6(CDH23):c.4562A>G (p.Asn1521Ser)
|
rs780987516
|
0.00006
|
NM_022124.6(CDH23):c.4625G>A (p.Gly1542Asp)
|
rs781339262
|
0.00006
|
NM_022124.6(CDH23):c.6050-15G>A
|
rs373838930
|
0.00006
|
NM_022124.6(CDH23):c.6050-9G>A
|
rs367928692
|
0.00006
|
NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln)
|
rs201434373
|
0.00006
|
NM_022124.6(CDH23):c.7295G>A (p.Gly2432Asp)
|
rs201579860
|
0.00006
|
NM_022124.6(CDH23):c.7362G>A (p.Thr2454=)
|
rs370983472
|
0.00006
|
NM_022124.6(CDH23):c.8344G>A (p.Asp2782Asn)
|
rs202147495
|
0.00006
|
NM_022124.6(CDH23):c.8644T>C (p.Phe2882Leu)
|
rs761210350
|
0.00006
|
NM_022124.6(CDH23):c.9904G>A (p.Glu3302Lys)
|
rs368743687
|
0.00006
|
NM_022552.5(DNMT3A):c.1903C>T (p.Arg635Trp)
|
rs144689354
|
0.00006
|
NM_024529.5(CDC73):c.*1083A>T
|
rs367704451
|
0.00006
|
NM_024529.5(CDC73):c.*1599A>G
|
rs543573271
|
0.00006
|
NM_024529.5(CDC73):c.*2801A>G
|
rs999015399
|
0.00006
|
NM_024529.5(CDC73):c.*2962T>C
|
rs147904515
|
0.00006
|
NM_024529.5(CDC73):c.*948C>T
|
rs761544591
|
0.00006
|
NM_024529.5(CDC73):c.1066+8T>C
|
rs80356647
|
0.00006
|
NM_024529.5(CDC73):c.333C>T (p.Ser111=)
|
rs374834265
|
0.00006
|
NM_032638.5(GATA2):c.1274C>T (p.Ser425Leu)
|
rs146554939
|
0.00006
|
NM_033360.4(KRAS):c.4+5G>A
|
rs201789109
|
0.00006
|
NM_058172.6(ANTXR2):c.*3707G>A
|
rs534524069
|
0.00006
|
NM_058172.6(ANTXR2):c.*4332G>A
|
rs1053639062
|
0.00006
|
NM_058172.6(ANTXR2):c.*5524C>T
|
rs927201999
|
0.00006
|
NM_198253.3(TERT):c.159G>C (p.Gln53His)
|
rs1060503006
|
0.00006
|
NM_198994.3(TGM6):c.1550T>G (p.Leu517Trp)
|
rs387907097
|
0.00006
|
NM_207122.2(EXT2):c.*381T>C
|
rs886048280
|
0.00006
|
NM_207122.2(EXT2):c.1249C>T (p.Arg417Trp)
|
rs540229057
|
0.00006
|
NM_207122.2(EXT2):c.1412G>A (p.Arg471Gln)
|
rs141256266
|
0.00006
|
NM_207122.2(EXT2):c.182G>A (p.Arg61His)
|
rs151228794
|
0.00006
|
NM_207122.2(EXT2):c.201G>A (p.Pro67=)
|
rs201374853
|
0.00006
|
NM_207122.2(EXT2):c.2053G>A (p.Gly685Arg)
|
rs367897723
|
0.00006
|
NM_207122.2(EXT2):c.357C>T (p.Gly119=)
|
rs753325648
|
0.00006
|
NM_207122.2(EXT2):c.919G>A (p.Asp307Asn)
|
rs200631641
|
0.00006
|
NM_000127.3(EXT1):c.-57G>C
|
rs886062636
|
0.00005
|
NM_000127.3(EXT1):c.1722+9C>T
|
rs371055794
|
0.00005
|
NM_000127.3(EXT1):c.2062C>T (p.Arg688Trp)
|
rs138855109
|
0.00005
|
NM_000127.3(EXT1):c.2178C>T (p.Pro726=)
|
rs557560039
|
0.00005
|
NM_000127.3(EXT1):c.543C>T (p.Leu181=)
|
rs375583188
|
0.00005
|
NM_000388.4(CASR):c.*251G>C
|
rs904222689
|
0.00005
|
NM_000388.4(CASR):c.779A>G (p.Gln260Arg)
|
rs200386687
|
0.00005
|
NM_000516.7(GNAS):c.1039-4G>A
|
rs575570315
|
0.00005
|
NM_000516.7(GNAS):c.576G>T (p.Pro192=)
|
rs558915293
|
0.00005
|
NM_001018115.3(FANCD2):c.990-1G>A
|
rs112832879
|
0.00005
|
NM_001042492.3(NF1):c.1166A>G (p.His389Arg)
|
rs149739570
|
0.00005
|
NM_001042492.3(NF1):c.1894T>A (p.Cys632Ser)
|
rs370789267
|
0.00005
|
NM_001042492.3(NF1):c.4207G>A (p.Gly1403Ser)
|
rs138227618
|
0.00005
|
NM_001042492.3(NF1):c.4263G>A (p.Pro1421=)
|
rs201648604
|
0.00005
|
NM_001042492.3(NF1):c.6315C>T (p.His2105=)
|
rs145732909
|
0.00005
|
NM_001754.5(RUNX1):c.749G>A (p.Arg250His)
|
rs771614642
|
0.00005
|
NM_002451.4(MTAP):c.*2937C>G
|
rs536527668
|
0.00005
|
NM_002451.4(MTAP):c.*3060A>G
|
rs1179074073
|
0.00005
|
NM_002451.4(MTAP):c.*3206C>T
|
rs886063793
|
0.00005
|
NM_002451.4(MTAP):c.*395A>G
|
rs1050551130
|
0.00005
|
NM_002451.4(MTAP):c.788G>T (p.Trp263Leu)
|
rs373274501
|
0.00005
|
NM_002834.5(PTPN11):c.990A>C (p.Thr330=)
|
rs369739920
|
0.00005
|
NM_004364.5(CEBPA):c.304G>A (p.Gly102Ser)
|
rs1455462308
|
0.00005
|
NM_004364.5(CEBPA):c.582G>A (p.Pro194=)
|
rs1202509655
|
0.00005
|
NM_005188.4(CBL):c.2520T>G (p.Cys840Trp)
|
rs112330156
|
0.00005
|
NM_005373.3(MPL):c.1002C>T (p.Cys334=)
|
rs141526418
|
0.00005
|
NM_005373.3(MPL):c.1051C>T (p.Arg351Cys)
|
rs201998783
|
0.00005
|
NM_005373.3(MPL):c.173C>T (p.Ala58Val)
|
rs6087
|
0.00005
|
NM_005373.3(MPL):c.235_236del (p.Leu79fs)
|
rs587778514
|
0.00005
|
NM_016222.4(DDX41):c.142C>T (p.Gln48Ter)
|
rs377745714
|
0.00005
|
NM_022124.6(CDH23):c.9955G>A (p.Glu3319Lys)
|
rs771858198
|
0.00005
|
NM_024529.5(CDC73):c.*1251A>G
|
rs550417983
|
0.00005
|
NM_058172.6(ANTXR2):c.*4668T>C
|
rs544590235
|
0.00005
|
NM_058172.6(ANTXR2):c.1361C>T (p.Ala454Val)
|
rs372562244
|
0.00005
|
NM_058172.6(ANTXR2):c.1432C>T (p.Arg478Trp)
|
rs199499401
|
0.00005
|
NM_080425.4(GNAS):c.1462G>A (p.Ala488Thr)
|
rs552813440
|
0.00005
|
NM_198253.3(TERT):c.1108C>T (p.Pro370Ser)
|
rs143148040
|
0.00005
|
NM_198253.3(TERT):c.2287-5G>A
|
rs561426406
|
0.00005
|
NM_207122.2(EXT2):c.1185C>G (p.Phe395Leu)
|
rs776907891
|
0.00005
|
NM_207122.2(EXT2):c.1341G>A (p.Pro447=)
|
rs774039598
|
0.00005
|
NM_207122.2(EXT2):c.1487C>T (p.Pro496Leu)
|
rs772530256
|
0.00005
|
NM_207122.2(EXT2):c.284G>A (p.Arg95His)
|
rs143703574
|
0.00005
|
NM_207122.2(EXT2):c.445C>T (p.Arg149Trp)
|
rs757297287
|
0.00005
|
NM_207122.2(EXT2):c.588C>T (p.Pro196=)
|
rs200009614
|
0.00005
|
NM_207122.2(EXT2):c.698A>G (p.Tyr233Cys)
|
rs146316660
|
0.00005
|
NM_207122.2(EXT2):c.749G>A (p.Arg250Gln)
|
rs770821909
|
0.00005
|
NM_207122.2(EXT2):c.8C>T (p.Ala3Val)
|
rs201185639
|
0.00005
|
NM_000059.4(BRCA2):c.7010C>T (p.Thr2337Ile)
|
rs80358927
|
0.00004
|
NM_000127.3(EXT1):c.1695C>T (p.Asp565=)
|
rs762218262
|
0.00004
|
NM_000127.3(EXT1):c.1743G>A (p.Val581=)
|
rs375284779
|
0.00004
|
NM_000127.3(EXT1):c.591C>T (p.Ser197=)
|
rs770795716
|
0.00004
|
NM_000127.3(EXT1):c.609C>T (p.Tyr203=)
|
rs886042484
|
0.00004
|
NM_000222.3(KIT):c.2104C>G (p.Leu702Val)
|
rs768847037
|
0.00004
|
NM_000222.3(KIT):c.840G>C (p.Ala280=)
|
rs142772432
|
0.00004
|
NM_000388.4(CASR):c.1913G>A (p.Arg638His)
|
rs201852643
|
0.00004
|
NM_000388.4(CASR):c.2955C>T (p.Asn985=)
|
rs199884115
|
0.00004
|
NM_000388.4(CASR):c.308C>T (p.Thr103Ile)
|
rs199734455
|
0.00004
|
NM_000388.4(CASR):c.3220A>G (p.Asn1074Asp)
|
rs775066593
|
0.00004
|
NM_000388.4(CASR):c.32T>C (p.Leu11Ser)
|
rs200673016
|
0.00004
|
NM_000388.4(CASR):c.60C>T (p.Tyr20=)
|
rs201564143
|
0.00004
|
NM_000516.7(GNAS):c.684C>T (p.Arg228=)
|
rs147984566
|
0.00004
|
NM_000516.7(GNAS):c.936T>C (p.Phe312=)
|
rs764458531
|
0.00004
|
NM_000546.6(TP53):c.460G>A (p.Gly154Ser)
|
rs137852789
|
0.00004
|
NM_001042492.3(NF1):c.231A>T (p.Lys77Asn)
|
rs373563053
|
0.00004
|
NM_001042492.3(NF1):c.2592C>T (p.Ser864=)
|
rs761499485
|
0.00004
|
NM_001042492.3(NF1):c.3371G>A (p.Ser1124Asn)
|
rs374472758
|
0.00004
|
NM_001042492.3(NF1):c.3708+11A>C
|
rs373751277
|
0.00004
|
NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala)
|
rs143836226
|
0.00004
|
NM_001042492.3(NF1):c.3947A>G (p.His1316Arg)
|
rs751023085
|
0.00004
|
NM_001042492.3(NF1):c.4111-4G>A
|
rs764877783
|
0.00004
|
NM_001042492.3(NF1):c.4835+13A>G
|
rs1034258238
|
0.00004
|
NM_001042492.3(NF1):c.4835+14T>C
|
rs758851307
|
0.00004
|
NM_001042492.3(NF1):c.5664C>T (p.Ile1888=)
|
rs373685150
|
0.00004
|
NM_001042492.3(NF1):c.5925T>C (p.Leu1975=)
|
rs375776474
|
0.00004
|
NM_001042492.3(NF1):c.61-9T>C
|
rs780956522
|
0.00004
|
NM_001042492.3(NF1):c.6360T>C (p.Ala2120=)
|
rs371578074
|
0.00004
|
NM_001754.5(RUNX1):c.1265A>C (p.Glu422Ala)
|
rs2056451758
|
0.00004
|
NM_001754.5(RUNX1):c.1338C>T (p.Leu446=)
|
rs769628054
|
0.00004
|
NM_001754.5(RUNX1):c.56G>A (p.Arg19Lys)
|
rs759078185
|
0.00004
|
NM_001754.5(RUNX1):c.801G>A (p.Met267Ile)
|
rs757570529
|
0.00004
|
NM_001754.5(RUNX1):c.925G>A (p.Gly309Ser)
|
rs752288830
|
0.00004
|
NM_002451.4(MTAP):c.*1225G>A
|
rs556119629
|
0.00004
|
NM_002451.4(MTAP):c.*3276A>G
|
rs1038408600
|
0.00004
|
NM_002451.4(MTAP):c.*3774A>G
|
rs949366316
|
0.00004
|
NM_002451.4(MTAP):c.603G>A (p.Glu201=)
|
rs189392570
|
0.00004
|
NM_002834.5(PTPN11):c.14+11C>A
|
rs1486505121
|
0.00004
|
NM_002834.5(PTPN11):c.893A>G (p.Asn298Ser)
|
rs572274623
|
0.00004
|
NM_003977.4(AIP):c.135C>T (p.Asp45=)
|
rs181969066
|
0.00004
|
NM_003977.4(AIP):c.355C>T (p.Arg119Trp)
|
rs368933035
|
0.00004
|
NM_003977.4(AIP):c.584T>C (p.Val195Ala)
|
rs267606561
|
0.00004
|
NM_003977.4(AIP):c.692C>T (p.Thr231Met)
|
rs532170807
|
0.00004
|
NM_003977.4(AIP):c.70G>C (p.Glu24Gln)
|
rs267606568
|
0.00004
|
NM_004364.5(CEBPA):c.107G>A (p.Gly36Asp)
|
rs746522150
|
0.00004
|
NM_004364.5(CEBPA):c.142G>A (p.Ala48Thr)
|
rs892805896
|
0.00004
|
NM_004364.5(CEBPA):c.155T>C (p.Leu52Pro)
|
rs936973108
|
0.00004
|
NM_004364.5(CEBPA):c.325C>T (p.Pro109Ser)
|
rs1027991203
|
0.00004
|
NM_004364.5(CEBPA):c.330C>T (p.Gly110=)
|
rs1207839159
|
0.00004
|
NM_004364.5(CEBPA):c.387C>A (p.Pro129=)
|
rs1060504477
|
0.00004
|
NM_004364.5(CEBPA):c.392A>T (p.Tyr131Phe)
|
rs1300977671
|
0.00004
|
NM_004364.5(CEBPA):c.860T>C (p.Val287Ala)
|
rs1250168874
|
0.00004
|
NM_004364.5(CEBPA):c.882C>T (p.Ile294=)
|
rs376093748
|
0.00004
|
NM_004364.5(CEBPA):c.888G>A (p.Val296=)
|
rs772999335
|
0.00004
|
NM_004364.5(CEBPA):c.909C>T (p.Ala303=)
|
rs371444741
|
0.00004
|
NM_004364.5(CEBPA):c.979C>T (p.Arg327Trp)
|
rs1306818311
|
0.00004
|
NM_004752.4(GCM2):c.1364G>A (p.Arg455Gln)
|
rs145103332
|
0.00004
|
NM_004752.4(GCM2):c.318C>T (p.Cys106=)
|
rs749600723
|
0.00004
|
NM_004972.4(JAK2):c.2571+5A>C
|
rs775085241
|
0.00004
|
NM_004985.5(KRAS):c.451-5652C>T
|
rs727505314
|
0.00004
|
NM_005188.4(CBL):c.1511C>T (p.Pro504Leu)
|
rs533554769
|
0.00004
|
NM_005188.4(CBL):c.2083G>A (p.Glu695Lys)
|
rs143975631
|
0.00004
|
NM_005373.3(MPL):c.127C>T (p.Arg43Ter)
|
rs148434485
|
0.00004
|
NM_005373.3(MPL):c.1609C>T (p.Arg537Trp)
|
rs148784027
|
0.00004
|
NM_005373.3(MPL):c.1621C>T (p.Gln541Ter)
|
rs369156948
|
0.00004
|
NM_005373.3(MPL):c.1629T>C (p.Leu543=)
|
rs150816330
|
0.00004
|
NM_005373.3(MPL):c.548C>T (p.Thr183Met)
|
rs137952228
|
0.00004
|
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp)
|
rs121908705
|
0.00004
|
NM_007194.4(CHEK2):c.1423T>A (p.Phe475Ile)
|
rs370968992
|
0.00004
|
NM_007194.4(CHEK2):c.400G>C (p.Asp134His)
|
rs372874441
|
0.00004
|
NM_007194.4(CHEK2):c.847-10C>G
|
rs745745105
|
0.00004
|
NM_007194.4(CHEK2):c.962A>C (p.Glu321Ala)
|
rs374395284
|
0.00004
|
NM_012433.4(SF3B1):c.2098A>G (p.Lys700Glu)
|
rs559063155
|
0.00004
|
NM_022124.6(CDH23):c.2251G>A (p.Gly751Arg)
|
rs41281306
|
0.00004
|
NM_022124.6(CDH23):c.269G>A (p.Arg90Gln)
|
rs397517317
|
0.00004
|
NM_022124.6(CDH23):c.2804G>A (p.Arg935His)
|
rs748194042
|
0.00004
|
NM_022124.6(CDH23):c.4309C>T (p.Arg1437Ter)
|
rs397517329
|
0.00004
|
NM_022124.6(CDH23):c.5692G>A (p.Ala1898Thr)
|
rs548937425
|
0.00004
|
NM_022124.6(CDH23):c.6808C>T (p.Arg2270Cys)
|
rs755800639
|
0.00004
|
NM_022124.6(CDH23):c.7942G>A (p.Val2648Met)
|
rs749501038
|
0.00004
|
NM_022124.6(CDH23):c.9557G>A (p.Arg3186Gln)
|
rs763303827
|
0.00004
|
NM_022124.6(CDH23):c.9566G>A (p.Arg3189Gln)
|
rs727502936
|
0.00004
|
NM_022124.6(CDH23):c.9616C>T (p.Arg3206Cys)
|
rs778711089
|
0.00004
|
NM_022124.6(CDH23):c.982G>A (p.Ala328Thr)
|
rs374545987
|
0.00004
|
NM_022552.5(DNMT3A):c.2311C>T (p.Arg771Ter)
|
rs779626155
|
0.00004
|
NM_024529.5(CDC73):c.*1074A>T
|
rs886045718
|
0.00004
|
NM_024529.5(CDC73):c.*1092A>G
|
rs886045720
|
0.00004
|
NM_024529.5(CDC73):c.*2455C>T
|
rs886045729
|
0.00004
|
NM_024529.5(CDC73):c.1236G>A (p.Met412Ile)
|
rs757006970
|
0.00004
|
NM_032638.5(GATA2):c.1331C>T (p.Pro444Leu)
|
rs781161922
|
0.00004
|
NM_032638.5(GATA2):c.413T>C (p.Leu138Pro)
|
rs746362966
|
0.00004
|
NM_058172.6(ANTXR2):c.*3105A>G
|
rs982853737
|
0.00004
|
NM_058172.6(ANTXR2):c.*4847C>T
|
rs763414805
|
0.00004
|
NM_058172.6(ANTXR2):c.1074del (p.Ala359fs)
|
rs312262693
|
0.00004
|
NM_080425.4(GNAS):c.958G>A (p.Asp320Asn)
|
rs201342585
|
0.00004
|
NM_198253.3(TERT):c.3329C>T (p.Thr1110Met)
|
rs199422306
|
0.00004
|
NM_207122.1(EXT2):c.-307G>T
|
rs569630494
|
0.00004
|
NM_207122.2(EXT2):c.1177C>T (p.Arg393Trp)
|
rs145903120
|
0.00004
|
NM_207122.2(EXT2):c.1277A>G (p.Tyr426Cys)
|
rs781283626
|
0.00004
|
NM_207122.2(EXT2):c.1495+9C>G
|
rs768311130
|
0.00004
|
NM_207122.2(EXT2):c.1663-16A>G
|
rs201032203
|
0.00004
|
NM_207122.2(EXT2):c.1704T>A (p.Gly568=)
|
rs145878394
|
0.00004
|
NM_207122.2(EXT2):c.1806+10C>T
|
rs200520590
|
0.00004
|
NM_207122.2(EXT2):c.1945C>T (p.Arg649Ter)
|
rs765648513
|
0.00004
|
NM_207122.2(EXT2):c.382C>T (p.Arg128Trp)
|
rs200613371
|
0.00004
|
NM_207122.2(EXT2):c.728C>G (p.Pro243Arg)
|
rs200032672
|
0.00004
|
NM_207122.2(EXT2):c.849C>T (p.Leu283=)
|
rs749093709
|
0.00004
|
NM_207122.2(EXT2):c.906G>C (p.Lys302Asn)
|
rs549810739
|
0.00004
|
NM_207122.2(EXT2):c.940-18C>G
|
rs375536301
|
0.00004
|
NM_207122.2(EXT2):c.94A>G (p.Ile32Val)
|
rs769478020
|
0.00004
|
NM_207122.2(EXT2):c.973C>T (p.Arg325Trp)
|
rs145611597
|
0.00004
|
NM_207122.2(EXT2):c.995G>A (p.Ser332Asn)
|
rs148493676
|
0.00004
|
NM_207122.2(EXT2):c.996C>T (p.Ser332=)
|
rs142692757
|
0.00004
|
NM_000059.4(BRCA2):c.7565C>T (p.Ser2522Phe)
|
rs80358985
|
0.00003
|
NM_000127.3(EXT1):c.1135G>A (p.Val379Ile)
|
rs371233961
|
0.00003
|
NM_000127.3(EXT1):c.1143C>T (p.Gly381=)
|
rs376640197
|
0.00003
|
NM_000127.3(EXT1):c.1239G>T (p.Glu413Asp)
|
rs756701753
|
0.00003
|
NM_000127.3(EXT1):c.1259A>G (p.Glu420Gly)
|
rs147847222
|
0.00003
|
NM_000127.3(EXT1):c.1285-9A>G
|
rs761040629
|
0.00003
|
NM_000127.3(EXT1):c.1293G>A (p.Gln431=)
|
rs773449892
|
0.00003
|
NM_000127.3(EXT1):c.1305C>A (p.Phe435Leu)
|
rs183760697
|
0.00003
|
NM_000127.3(EXT1):c.1503C>G (p.Leu501=)
|
rs146108006
|
0.00003
|
NM_000127.3(EXT1):c.1781C>G (p.Ala594Gly)
|
rs374887549
|
0.00003
|
NM_000127.3(EXT1):c.1899A>G (p.Leu633=)
|
rs368191286
|
0.00003
|
NM_000222.3(KIT):c.2881G>A (p.Gly961Ser)
|
rs773828910
|
0.00003
|
NM_000368.5(TSC1):c.1231C>A (p.Leu411Ile)
|
rs397514840
|
0.00003
|
NM_000368.5(TSC1):c.3439A>G (p.Ser1147Gly)
|
rs768624733
|
0.00003
|
NM_000388.4(CASR):c.*103A>C
|
rs199899073
|
0.00003
|
NM_000388.4(CASR):c.1144G>A (p.Asp382Asn)
|
rs199980578
|
0.00003
|
NM_000388.4(CASR):c.1463A>G (p.Asn488Ser)
|
rs146739893
|
0.00003
|
NM_000388.4(CASR):c.2303G>T (p.Gly768Val)
|
rs201858689
|
0.00003
|
NM_000388.4(CASR):c.2693G>A (p.Arg898Gln)
|
rs121909269
|
0.00003
|
NM_000388.4(CASR):c.3118C>G (p.Gln1040Glu)
|
rs1007139212
|
0.00003
|
NM_000516.7(GNAS):c.1131C>T (p.Asn377=)
|
rs140075370
|
0.00003
|
NM_000516.7(GNAS):c.660-19C>T
|
rs370723643
|
0.00003
|
NM_000551.4(VHL):c.628C>T (p.Arg210Trp)
|
rs774380450
|
0.00003
|
NM_001012339.3(DNAJC21):c.544C>T (p.Arg182Ter)
|
rs771063992
|
0.00003
|
NM_001042492.3(NF1):c.100G>A (p.Val34Ile)
|
rs772995929
|
0.00003
|
NM_001042492.3(NF1):c.1182T>C (p.Phe394=)
|
rs786202581
|
0.00003
|
NM_001042492.3(NF1):c.169G>A (p.Gly57Ser)
|
rs779727341
|
0.00003
|
NM_001042492.3(NF1):c.2570A>G (p.Asn857Ser)
|
rs1060500299
|
0.00003
|
NM_001042492.3(NF1):c.2585C>G (p.Thr862Ser)
|
rs200302954
|
0.00003
|
NM_001042492.3(NF1):c.2747A>G (p.Asn916Ser)
|
rs765043916
|
0.00003
|
NM_001042492.3(NF1):c.2916A>C (p.Leu972=)
|
rs1210119104
|
0.00003
|
NM_001042492.3(NF1):c.3604G>T (p.Ala1202Ser)
|
rs146641724
|
0.00003
|
NM_001042492.3(NF1):c.5269-18G>A
|
rs371616556
|
0.00003
|
NM_001042492.3(NF1):c.7003A>G (p.Thr2335Ala)
|
rs370209920
|
0.00003
|
NM_001042492.3(NF1):c.7189+7A>G
|
rs767151173
|
0.00003
|
NM_001042492.3(NF1):c.8484C>T (p.Gly2828=)
|
rs143289497
|
0.00003
|
NM_001370259.2(MEN1):c.*412G>A
|
rs972128957
|
0.00003
|
NM_001754.5(RUNX1):c.1112T>C (p.Met371Thr)
|
rs922736848
|
0.00003
|
NM_001754.5(RUNX1):c.787C>T (p.Pro263Ser)
|
rs370315332
|
0.00003
|
NM_001754.5(RUNX1):c.899C>T (p.Thr300Met)
|
rs758682659
|
0.00003
|
NM_002070.4(GNAI2):c.879G>A (p.Gly293=)
|
rs143863348
|
0.00003
|
NM_002451.4(MTAP):c.*2383C>T
|
rs886063791
|
0.00003
|
NM_002451.4(MTAP):c.*3160T>C
|
rs1228548595
|
0.00003
|
NM_002451.4(MTAP):c.*3501T>C
|
rs949232383
|
0.00003
|
NM_002451.4(MTAP):c.*606A>G
|
rs566061531
|
0.00003
|
NM_002451.4(MTAP):c.111A>G (p.Pro37=)
|
rs774955664
|
0.00003
|
NM_002451.4(MTAP):c.300G>A (p.Glu100=)
|
rs762121645
|
0.00003
|
NM_002834.5(PTPN11):c.1327C>T (p.His443Tyr)
|
rs779236638
|
0.00003
|
NM_002834.5(PTPN11):c.781C>T (p.Leu261Phe)
|
rs397507525
|
0.00003
|
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)
|
rs376607329
|
0.00003
|
NM_003977.4(AIP):c.-5G>C
|
rs267606562
|
0.00003
|
NM_003977.4(AIP):c.406G>T (p.Ala136Ser)
|
rs775549178
|
0.00003
|
NM_003977.4(AIP):c.563G>A (p.Arg188Gln)
|
rs866556486
|
0.00003
|
NM_003977.4(AIP):c.573C>T (p.Arg191=)
|
rs781545373
|
0.00003
|
NM_003977.4(AIP):c.591G>A (p.Glu197=)
|
rs202006716
|
0.00003
|
NM_003977.4(AIP):c.965C>T (p.Ala322Val)
|
rs267606586
|
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_004304.5(ALK):c.2194G>A (p.Asp732Asn)
|
rs768366852
|
0.00003
|
NM_004364.5(CEBPA):c.1009A>T (p.Thr337Ser)
|
rs587778192
|
0.00003
|
NM_004364.5(CEBPA):c.1055A>G (p.Lys352Arg)
|
rs775099224
|
0.00003
|
NM_004364.5(CEBPA):c.1060A>G (p.Met354Val)
|
rs1060502122
|
0.00003
|
NM_004364.5(CEBPA):c.256C>T (p.Arg86Trp)
|
rs1555742243
|
0.00003
|
NM_004364.5(CEBPA):c.365G>A (p.Gly122Glu)
|
rs1311096326
|
0.00003
|
NM_004364.5(CEBPA):c.385C>T (p.Pro129Ser)
|
rs1328994773
|
0.00003
|
NM_004364.5(CEBPA):c.421G>T (p.Gly141Cys)
|
rs1408671093
|
0.00003
|
NM_004364.5(CEBPA):c.527C>T (p.Ala176Val)
|
rs957167825
|
0.00003
|
NM_004364.5(CEBPA):c.568T>C (p.Ser190Pro)
|
rs867463920
|
0.00003
|
NM_004364.5(CEBPA):c.816C>G (p.Gly272=)
|
rs750852645
|
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_005188.4(CBL):c.1353C>T (p.Pro451=)
|
rs201616881
|
0.00003
|
NM_005188.4(CBL):c.1484C>T (p.Pro495Leu)
|
rs373989524
|
0.00003
|
NM_005373.3(MPL):c.1422G>A (p.Trp474Ter)
|
rs754859909
|
0.00003
|
NM_005373.3(MPL):c.1665A>G (p.Thr555=)
|
rs981464721
|
0.00003
|
NM_005373.3(MPL):c.212G>A (p.Arg71Gln)
|
rs368753117
|
0.00003
|
NM_005373.3(MPL):c.22A>G (p.Met8Val)
|
rs572208458
|
0.00003
|
NM_005373.3(MPL):c.230del (p.Cys77fs)
|
rs1291157023
|
0.00003
|
NM_005373.3(MPL):c.712G>T (p.Gly238Cys)
|
rs144210383
|
0.00003
|
NM_005373.3(MPL):c.932C>T (p.Ser311Phe)
|
rs776753502
|
0.00003
|
NM_005373.3(MPL):c.978C>T (p.Asp326=)
|
rs202119310
|
0.00003
|
NM_007194.4(CHEK2):c.1133C>T (p.Thr378Ile)
|
rs587780167
|
0.00003
|
NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys)
|
rs587780171
|
0.00003
|
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter)
|
rs587781269
|
0.00003
|
NM_007194.4(CHEK2):c.953G>A (p.Arg318His)
|
rs143611747
|
0.00003
|
NM_012433.4(SF3B1):c.1997A>G (p.Lys666Arg)
|
rs374250186
|
0.00003
|
NM_022124.6(CDH23):c.227G>A (p.Arg76His)
|
rs373802615
|
0.00003
|
NM_022124.6(CDH23):c.2524C>T (p.Arg842Trp)
|
rs368496658
|
0.00003
|
NM_022124.6(CDH23):c.3172C>G (p.Leu1058Val)
|
rs748462315
|
0.00003
|
NM_022124.6(CDH23):c.3739C>T (p.Arg1247Cys)
|
rs202204597
|
0.00003
|
NM_022124.6(CDH23):c.4249C>T (p.Arg1417Trp)
|
rs756231829
|
0.00003
|
NM_022124.6(CDH23):c.7466G>A (p.Arg2489His)
|
rs141986620
|
0.00003
|
NM_022124.6(CDH23):c.7634C>T (p.Thr2545Ile)
|
rs763947401
|
0.00003
|
NM_022124.6(CDH23):c.7822C>T (p.Arg2608Cys)
|
rs370922401
|
0.00003
|
NM_022124.6(CDH23):c.8920G>T (p.Glu2974Ter)
|
rs1344509500
|
0.00003
|
NM_022124.6(CDH23):c.9002G>A (p.Arg3001Gln)
|
rs111033467
|
0.00003
|
NM_022124.6(CDH23):c.9127C>T (p.Arg3043Trp)
|
rs375907609
|
0.00003
|
NM_022124.6(CDH23):c.9175C>A (p.Pro3059Thr)
|
rs780514498
|
0.00003
|
NM_022124.6(CDH23):c.9565C>T (p.Arg3189Trp)
|
rs121908353
|
0.00003
|
NM_024529.5(CDC73):c.*2963A>G
|
rs886045731
|
0.00003
|
NM_024529.5(CDC73):c.*2982T>C
|
rs886045732
|
0.00003
|
NM_024529.5(CDC73):c.*463A>G
|
rs879039427
|
0.00003
|
NM_024529.5(CDC73):c.1304T>C (p.Met435Thr)
|
rs202209013
|
0.00003
|
NM_024529.5(CDC73):c.1417+9C>T
|
rs769784756
|
0.00003
|
NM_024529.5(CDC73):c.1418-10C>G
|
rs768713729
|
0.00003
|
NM_024529.5(CDC73):c.680G>A (p.Arg227Lys)
|
rs145694828
|
0.00003
|
NM_032638.5(GATA2):c.1286G>C (p.Ser429Thr)
|
rs201155045
|
0.00003
|
NM_058172.6(ANTXR2):c.*1682T>C
|
rs962595800
|
0.00003
|
NM_058172.6(ANTXR2):c.*3473A>G
|
rs1427833463
|
0.00003
|
NM_058172.6(ANTXR2):c.1392C>A (p.Asp464Glu)
|
rs770869771
|
0.00003
|
NM_058172.6(ANTXR2):c.380C>T (p.Ala127Val)
|
rs530888685
|
0.00003
|
NM_058172.6(ANTXR2):c.745C>T (p.Arg249Trp)
|
rs377185226
|
0.00003
|
NM_198253.3(TERT):c.1393G>C (p.Val465Leu)
|
rs758110675
|
0.00003
|
NM_198253.3(TERT):c.150G>A (p.Leu50=)
|
rs886044153
|
0.00003
|
NM_198253.3(TERT):c.2190C>T (p.Ala730=)
|
rs138128892
|
0.00003
|
NM_198253.3(TERT):c.2262C>T (p.His754=)
|
rs778622091
|
0.00003
|
NM_198253.3(TERT):c.863C>T (p.Ala288Val)
|
rs774657340
|
0.00003
|
NM_207122.2(EXT2):c.*339C>T
|
rs759615273
|
0.00003
|
NM_207122.2(EXT2):c.1023G>A (p.Pro341=)
|
rs757323768
|
0.00003
|
NM_207122.2(EXT2):c.1080-6C>T
|
rs752180821
|
0.00003
|
NM_207122.2(EXT2):c.1194G>A (p.Ala398=)
|
rs1011914306
|
0.00003
|
NM_207122.2(EXT2):c.1200C>A (p.Phe400Leu)
|
rs773613001
|
0.00003
|
NM_207122.2(EXT2):c.1461C>T (p.Val487=)
|
rs150758739
|
0.00003
|
NM_207122.2(EXT2):c.1532T>C (p.Val511Ala)
|
rs1470381472
|
0.00003
|
NM_207122.2(EXT2):c.1564C>T (p.Arg522Cys)
|
rs145507609
|
0.00003
|
NM_207122.2(EXT2):c.1681G>C (p.Asp561His)
|
rs151291188
|
0.00003
|
NM_207122.2(EXT2):c.1935+11C>G
|
rs764143899
|
0.00003
|
NM_207122.2(EXT2):c.2052C>T (p.Phe684=)
|
rs746317053
|
0.00003
|
NM_207122.2(EXT2):c.383G>A (p.Arg128Gln)
|
rs771039412
|
0.00003
|
NM_207122.2(EXT2):c.425A>G (p.Tyr142Cys)
|
rs762657738
|
0.00003
|
NM_207122.2(EXT2):c.626+3A>C
|
rs200934340
|
0.00003
|
NM_207122.2(EXT2):c.699T>C (p.Tyr233=)
|
rs1319747883
|
0.00003
|
NM_207122.2(EXT2):c.748C>T (p.Arg250Trp)
|
rs183424469
|
0.00003
|
NM_000059.4(BRCA2):c.4779A>C (p.Glu1593Asp)
|
rs80358703
|
0.00002
|
NM_000127.3(EXT1):c.1338C>T (p.Asn446=)
|
rs745637397
|
0.00002
|
NM_000127.3(EXT1):c.1360G>A (p.Val454Ile)
|
rs201504622
|
0.00002
|
NM_000127.3(EXT1):c.1450A>T (p.Ile484Phe)
|
rs763107867
|
0.00002
|
NM_000127.3(EXT1):c.148A>G (p.Ser50Gly)
|
rs772811741
|
0.00002
|
NM_000127.3(EXT1):c.1509T>A (p.Ala503=)
|
rs949806342
|
0.00002
|
NM_000127.3(EXT1):c.1608C>T (p.Val536=)
|
rs761252195
|
0.00002
|
NM_000127.3(EXT1):c.1705G>A (p.Val569Met)
|
rs1428345482
|
0.00002
|
NM_000127.3(EXT1):c.195C>T (p.Phe65=)
|
rs1202105470
|
0.00002
|
NM_000127.3(EXT1):c.2072G>A (p.Arg691His)
|
rs746678682
|
0.00002
|
NM_000127.3(EXT1):c.2106G>A (p.Gln702=)
|
rs780640885
|
0.00002
|
NM_000127.3(EXT1):c.210A>G (p.Gln70=)
|
rs367543871
|
0.00002
|
NM_000127.3(EXT1):c.2148G>A (p.Pro716=)
|
rs757499157
|
0.00002
|
NM_000127.3(EXT1):c.2171T>C (p.Leu724Pro)
|
rs758347621
|
0.00002
|
NM_000127.3(EXT1):c.2172C>T (p.Leu724=)
|
rs570085150
|
0.00002
|
NM_000127.3(EXT1):c.66T>C (p.Tyr22=)
|
rs764093488
|
0.00002
|
NM_000127.3(EXT1):c.699T>C (p.Ser233=)
|
rs370644296
|
0.00002
|
NM_000127.3(EXT1):c.74G>A (p.Gly25Asp)
|
rs765050783
|
0.00002
|
NM_000127.3(EXT1):c.768C>T (p.Ile256=)
|
rs566692634
|
0.00002
|
NM_000127.3(EXT1):c.962+7G>C
|
rs778490814
|
0.00002
|
NM_000127.3(EXT1):c.974G>A (p.Arg325Gln)
|
rs748651137
|
0.00002
|
NM_000215.4(JAK3):c.1503G>T (p.Gln501His)
|
rs201283129
|
0.00002
|
NM_000222.3(KIT):c.2057G>A (p.Arg686His)
|
rs143772138
|
0.00002
|
NM_000222.3(KIT):c.2836C>T (p.Arg946Ter)
|
rs139000082
|
0.00002
|
NM_000222.3(KIT):c.2866C>T (p.Arg956Trp)
|
rs587778433
|
0.00002
|
NM_000321.3(RB1):c.1981C>T (p.Arg661Trp)
|
rs137853294
|
0.00002
|
NM_000321.3(RB1):c.850A>G (p.Asn284Asp)
|
rs761609284
|
0.00002
|
NM_000388.4(CASR):c.1377+17T>C
|
rs200650843
|
0.00002
|
NM_000388.4(CASR):c.2161C>T (p.Leu721Phe)
|
rs942603230
|
0.00002
|
NM_000388.4(CASR):c.220A>C (p.Met74Leu)
|
rs745377913
|
0.00002
|
NM_000388.4(CASR):c.2570T>C (p.Ile857Thr)
|
rs766445416
|
0.00002
|
NM_000388.4(CASR):c.2638G>T (p.Ala880Ser)
|
rs763865303
|
0.00002
|
NM_000388.4(CASR):c.2669G>A (p.Arg890His)
|
rs567996888
|
0.00002
|
NM_000388.4(CASR):c.2687G>A (p.Arg896His)
|
rs773552397
|
0.00002
|
NM_000388.4(CASR):c.3168G>T (p.Val1056=)
|
rs886057831
|
0.00002
|
NM_000388.4(CASR):c.675A>G (p.Lys225=)
|
rs202226622
|
0.00002
|
NM_000388.4(CASR):c.909C>G (p.Ser303=)
|
rs375005541
|
0.00002
|
NM_000388.4(CASR):c.930C>T (p.Tyr310=)
|
rs201737357
|
0.00002
|
NM_000546.6(TP53):c.-12C>T
|
rs375229869
|
0.00002
|
NM_000546.6(TP53):c.466C>T (p.Arg156Cys)
|
rs563378859
|
0.00002
|
NM_000546.6(TP53):c.743G>A (p.Arg248Gln)
|
rs11540652
|
0.00002
|
NM_001042492.3(NF1):c.1247G>A (p.Arg416Gln)
|
rs1343309278
|
0.00002
|
NM_001042492.3(NF1):c.212T>C (p.Phe71Ser)
|
rs752396270
|
0.00002
|
NM_001042492.3(NF1):c.2458G>A (p.Val820Met)
|
rs761408020
|
0.00002
|
NM_001042492.3(NF1):c.3374C>T (p.Ala1125Val)
|
rs902739109
|
0.00002
|
NM_001042492.3(NF1):c.3441T>C (p.Leu1147=)
|
rs747330799
|
0.00002
|
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu)
|
rs137854550
|
0.00002
|
NM_001042492.3(NF1):c.4426C>T (p.Arg1476Cys)
|
rs771420960
|
0.00002
|
NM_001042492.3(NF1):c.4657C>G (p.Pro1553Ala)
|
rs1033427343
|
0.00002
|
NM_001042492.3(NF1):c.4668T>C (p.Asp1556=)
|
rs763874870
|
0.00002
|
NM_001042492.3(NF1):c.5225A>G (p.Asn1742Ser)
|
rs745407845
|
0.00002
|
NM_001042492.3(NF1):c.5289A>G (p.Gln1763=)
|
rs199703296
|
0.00002
|
NM_001042492.3(NF1):c.5381T>C (p.Val1794Ala)
|
rs142867979
|
0.00002
|
NM_001042492.3(NF1):c.587-20A>T
|
rs776533188
|
0.00002
|
NM_001042492.3(NF1):c.6819+11C>T
|
rs201213225
|
0.00002
|
NM_001042492.3(NF1):c.7055A>G (p.Asn2352Ser)
|
rs763082717
|
0.00002
|
NM_001042492.3(NF1):c.7484C>T (p.Ser2495Phe)
|
rs757245615
|
0.00002
|
NM_001042492.3(NF1):c.7523A>G (p.Tyr2508Cys)
|
rs762169098
|
0.00002
|
NM_001042492.3(NF1):c.7615+7T>C
|
rs779078444
|
0.00002
|
NM_001042492.3(NF1):c.8160+9A>C
|
rs997202389
|
0.00002
|
NM_001042492.3(NF1):c.8385C>T (p.Asp2795=)
|
rs144635489
|
0.00002
|
NM_001042492.3(NF1):c.8456G>A (p.Ser2819Asn)
|
rs934837854
|
0.00002
|
NM_001042492.3(NF1):c.847G>T (p.Asp283Tyr)
|
rs200572531
|
0.00002
|
NM_001754.5(RUNX1):c.692T>C (p.Leu231Pro)
|
rs1408720761
|
0.00002
|
NM_002834.5(PTPN11):c.1041A>G (p.Gln347=)
|
rs766297596
|
0.00002
|
NM_002834.5(PTPN11):c.1226G>C (p.Gly409Ala)
|
rs201247699
|
0.00002
|
NM_002834.5(PTPN11):c.1594G>A (p.Glu532Lys)
|
rs587778634
|
0.00002
|
NM_002834.5(PTPN11):c.327T>G (p.Ser109=)
|
rs1039250039
|
0.00002
|
NM_002834.5(PTPN11):c.455G>A (p.Arg152His)
|
rs397507521
|
0.00002
|
NM_003977.4(AIP):c.366C>T (p.Cys122=)
|
rs748883061
|
0.00002
|
NM_003977.4(AIP):c.383G>A (p.Arg128His)
|
rs267606550
|
0.00002
|
NM_003977.4(AIP):c.40C>T (p.Gln14Ter)
|
rs104894194
|
0.00002
|
NM_003977.4(AIP):c.415G>T (p.Asp139Tyr)
|
rs138312605
|
0.00002
|
NM_003977.4(AIP):c.727G>T (p.Val243Leu)
|
rs1385147597
|
0.00002
|
NM_003977.4(AIP):c.784G>A (p.Asp262Asn)
|
rs758918509
|
0.00002
|
NM_003977.4(AIP):c.908G>A (p.Ser303Asn)
|
rs1006697477
|
0.00002
|
NM_004304.5(ALK):c.1582G>A (p.Ala528Thr)
|
rs758494304
|
0.00002
|
NM_004327.4(BCR):c.2356G>A (p.Ala786Thr)
|
rs1259370853
|
0.00002
|
NM_004327.4(BCR):c.2699A>G (p.Asn900Ser)
|
rs752530462
|
0.00002
|
NM_004364.5(CEBPA):c.*5C>T
|
rs375735989
|
0.00002
|
NM_004364.5(CEBPA):c.100C>A (p.Pro34Thr)
|
rs996435066
|
0.00002
|
NM_004364.5(CEBPA):c.252C>G (p.His84Gln)
|
rs878854700
|
0.00002
|
NM_004364.5(CEBPA):c.261G>T (p.Gln87His)
|
rs868242502
|
0.00002
|
NM_004364.5(CEBPA):c.39C>G (p.Pro13=)
|
rs1015459376
|
0.00002
|
NM_004364.5(CEBPA):c.525G>A (p.Leu175=)
|
rs975118445
|
0.00002
|
NM_004364.5(CEBPA):c.535T>C (p.Phe179Leu)
|
rs1033194020
|
0.00002
|
NM_004364.5(CEBPA):c.551C>G (p.Pro184Arg)
|
rs1457318927
|
0.00002
|
NM_004364.5(CEBPA):c.576G>A (p.Pro192=)
|
rs878854703
|
0.00002
|
NM_004364.5(CEBPA):c.715C>G (p.Pro239Ala)
|
rs1162371435
|
0.00002
|
NM_004364.5(CEBPA):c.765G>T (p.Gly255=)
|
rs1163957359
|
0.00002
|
NM_004364.5(CEBPA):c.830C>T (p.Ser277Leu)
|
rs1269133775
|
0.00002
|
NM_004364.5(CEBPA):c.897C>T (p.Ser299=)
|
rs893018541
|
0.00002
|
NM_005188.4(CBL):c.1259G>A (p.Arg420Gln)
|
rs267606708
|
0.00002
|
NM_005188.4(CBL):c.1463C>T (p.Ala488Val)
|
rs377502790
|
0.00002
|
NM_005188.4(CBL):c.1783A>G (p.Ile595Val)
|
rs775675805
|
0.00002
|
NM_005188.4(CBL):c.1927C>T (p.Leu643=)
|
rs139939244
|
0.00002
|
NM_005188.4(CBL):c.2153G>A (p.Arg718Gln)
|
rs144894769
|
0.00002
|
NM_005188.4(CBL):c.2350G>A (p.Val784Met)
|
rs140725852
|
0.00002
|
NM_005188.4(CBL):c.286C>T (p.Arg96Cys)
|
rs147438359
|
0.00002
|
NM_005188.4(CBL):c.664A>C (p.Met222Leu)
|
rs773611782
|
0.00002
|
NM_005188.4(CBL):c.838C>T (p.Arg280Trp)
|
rs730880432
|
0.00002
|
NM_005373.3(MPL):c.1014G>A (p.Glu338=)
|
rs767497390
|
0.00002
|
NM_005373.3(MPL):c.1134C>T (p.Tyr378=)
|
rs749571171
|
0.00002
|
NM_005373.3(MPL):c.120T>C (p.Cys40=)
|
rs747864027
|
0.00002
|
NM_005373.3(MPL):c.1632G>A (p.Arg544=)
|
rs780927987
|
0.00002
|
NM_005373.3(MPL):c.1664C>T (p.Thr555Ile)
|
rs971458513
|
0.00002
|
NM_005373.3(MPL):c.1744_1745del (p.Leu582fs)
|
rs770402221
|
0.00002
|
NM_005373.3(MPL):c.1745T>C (p.Leu582Pro)
|
rs587778513
|
0.00002
|
NM_005373.3(MPL):c.1805T>C (p.Met602Thr)
|
rs770770219
|
0.00002
|
NM_005373.3(MPL):c.292C>G (p.Gln98Glu)
|
rs752682807
|
0.00002
|
NM_005373.3(MPL):c.460T>C (p.Trp154Arg)
|
rs758428763
|
0.00002
|
NM_005373.3(MPL):c.775G>A (p.Glu259Lys)
|
rs528834914
|
0.00002
|
NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr)
|
rs371657037
|
0.00002
|
NM_007194.4(CHEK2):c.176C>A (p.Thr59Lys)
|
rs149991239
|
0.00002
|
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn)
|
rs587781379
|
0.00002
|
NM_007194.4(CHEK2):c.931G>A (p.Asp311Asn)
|
rs587782347
|
0.00002
|
NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys)
|
rs587780194
|
0.00002
|
NM_015338.6(ASXL1):c.1910C>G (p.Ala637Gly)
|
rs769053835
|
0.00002
|
NM_015922.3(NSDHL):c.263G>A (p.Arg88Gln)
|
rs781879080
|
0.00002
|
NM_015922.3(NSDHL):c.560A>G (p.Asn187Ser)
|
rs782332983
|
0.00002
|
NM_015922.3(NSDHL):c.947C>G (p.Pro316Arg)
|
rs782141957
|
0.00002
|
NM_022124.6(CDH23):c.1515-12G>A
|
rs369396703
|
0.00002
|
NM_022124.6(CDH23):c.2729A>G (p.Tyr910Cys)
|
rs557257494
|
0.00002
|
NM_022124.6(CDH23):c.2959G>A (p.Asp987Asn)
|
rs770665588
|
0.00002
|
NM_022124.6(CDH23):c.3296G>A (p.Arg1099Gln)
|
rs1295355040
|
0.00002
|
NM_022124.6(CDH23):c.446C>T (p.Thr149Met)
|
rs370947344
|
0.00002
|
NM_022124.6(CDH23):c.5117G>A (p.Arg1706His)
|
rs376614796
|
0.00002
|
NM_022124.6(CDH23):c.5311C>T (p.Arg1771Ter)
|
rs750027965
|
0.00002
|
NM_022124.6(CDH23):c.6004C>G (p.Leu2002Val)
|
rs756459547
|
0.00002
|
NM_022124.6(CDH23):c.6080T>C (p.Ile2027Thr)
|
rs185819621
|
0.00002
|
NM_022124.6(CDH23):c.6085C>T (p.Arg2029Trp)
|
rs750880909
|
0.00002
|
NM_022124.6(CDH23):c.7177G>A (p.Val2393Met)
|
rs775436759
|
0.00002
|
NM_022124.6(CDH23):c.752C>T (p.Pro251Leu)
|
rs746961144
|
0.00002
|
NM_022124.6(CDH23):c.9970G>A (p.Glu3324Lys)
|
rs763119683
|
0.00002
|
NM_024529.5(CDC73):c.*1789G>A
|
rs1323646186
|
0.00002
|
NM_024529.5(CDC73):c.*3342G>A
|
rs1174982740
|
0.00002
|
NM_024529.5(CDC73):c.1135G>A (p.Asp379Asn)
|
rs971586985
|
0.00002
|
NM_024529.5(CDC73):c.201G>A (p.Val67=)
|
rs752298916
|
0.00002
|
NM_024529.5(CDC73):c.450A>G (p.Lys150=)
|
rs779144943
|
0.00002
|
NM_024529.5(CDC73):c.844A>G (p.Thr282Ala)
|
rs201236330
|
0.00002
|
NM_024675.4(PALB2):c.2755G>A (p.Val919Ile)
|
rs775193384
|
0.00002
|
NM_032638.5(GATA2):c.176A>G (p.Tyr59Cys)
|
rs140047487
|
0.00002
|
NM_033360.4(KRAS):c.389C>T (p.Ala130Val)
|
rs730880473
|
0.00002
|
NM_058172.6(ANTXR2):c.*1397G>A
|
rs117533033
|
0.00002
|
NM_058172.6(ANTXR2):c.*1476G>A
|
rs572394273
|
0.00002
|
NM_058172.6(ANTXR2):c.*1501G>T
|
rs1470947336
|
0.00002
|
NM_058172.6(ANTXR2):c.*3533G>A
|
rs746570017
|
0.00002
|
NM_058172.6(ANTXR2):c.*4194C>T
|
rs1005734569
|
0.00002
|
NM_058172.6(ANTXR2):c.*5527A>G
|
rs777700684
|
0.00002
|
NM_058172.6(ANTXR2):c.252G>A (p.Val84=)
|
rs886059657
|
0.00002
|
NM_058172.6(ANTXR2):c.652T>C (p.Cys218Arg)
|
rs781637328
|
0.00002
|
NM_080425.4(GNAS):c.1275C>T (p.Phe425=)
|
rs867492591
|
0.00002
|
NM_207122.2(EXT2):c.-26G>T
|
rs369437823
|
0.00002
|
NM_207122.2(EXT2):c.1043A>G (p.Tyr348Cys)
|
rs758785296
|
0.00002
|
NM_207122.2(EXT2):c.1079+5G>A
|
rs773025398
|
0.00002
|
NM_207122.2(EXT2):c.1109T>C (p.Met370Thr)
|
rs199711832
|
0.00002
|
NM_207122.2(EXT2):c.11C>T (p.Ser4Leu)
|
rs527624522
|
0.00002
|
NM_207122.2(EXT2):c.1306-7C>G
|
rs771232346
|
0.00002
|
NM_207122.2(EXT2):c.1315A>G (p.Ser439Gly)
|
rs760086935
|
0.00002
|
NM_207122.2(EXT2):c.1389C>T (p.Tyr463=)
|
rs1166915261
|
0.00002
|
NM_207122.2(EXT2):c.1393C>T (p.Arg465Ter)
|
rs772690312
|
0.00002
|
NM_207122.2(EXT2):c.1506G>A (p.Trp502Ter)
|
rs753973135
|
0.00002
|
NM_207122.2(EXT2):c.1587C>T (p.Ile529=)
|
rs765251957
|
0.00002
|
NM_207122.2(EXT2):c.1642G>A (p.Glu548Lys)
|
rs1804679
|
0.00002
|
NM_207122.2(EXT2):c.1935G>A (p.Lys645=)
|
rs752606551
|
0.00002
|
NM_207122.2(EXT2):c.2018+17C>T
|
rs375554352
|
0.00002
|
NM_207122.2(EXT2):c.343G>A (p.Val115Met)
|
rs1470293557
|
0.00002
|
NM_207122.2(EXT2):c.497G>A (p.Arg166His)
|
rs772821141
|
0.00002
|
NM_207122.2(EXT2):c.743+10A>C
|
rs762753229
|
0.00002
|
NM_207122.2(EXT2):c.832G>A (p.Glu278Lys)
|
rs117329700
|
0.00002
|
NM_207122.2(EXT2):c.890G>A (p.Arg297His)
|
rs773482624
|
0.00002
|
NM_207122.2(EXT2):c.93C>T (p.Ser31=)
|
rs747830835
|
0.00002
|
NM_000059.4(BRCA2):c.3517A>T (p.Ile1173Phe)
|
rs431825308
|
0.00001
|
NM_000059.4(BRCA2):c.8117A>G (p.Asn2706Ser)
|
rs80359055
|
0.00001
|
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp)
|
rs80359075
|
0.00001
|
NM_000127.3(EXT1):c.*182A>C
|
rs949394800
|
0.00001
|
NM_000127.3(EXT1):c.-717G>C
|
rs1381790284
|
0.00001
|
NM_000127.3(EXT1):c.1014T>G (p.Arg338=)
|
rs750458103
|
0.00001
|
NM_000127.3(EXT1):c.110G>A (p.Arg37Lys)
|
rs757411850
|
0.00001
|
NM_000127.3(EXT1):c.1164+8A>G
|
rs765877825
|
0.00001
|
NM_000127.3(EXT1):c.123C>T (p.Ser41=)
|
rs1186563531
|
0.00001
|
NM_000127.3(EXT1):c.1266T>A (p.Ile422=)
|
rs899395870
|
0.00001
|
NM_000127.3(EXT1):c.1279C>G (p.Leu427Val)
|
rs773539946
|
0.00001
|
NM_000127.3(EXT1):c.1284+19C>T
|
rs774601928
|
0.00001
|
NM_000127.3(EXT1):c.1354T>C (p.Leu452=)
|
rs1372000855
|
0.00001
|
NM_000127.3(EXT1):c.1403A>G (p.Tyr468Cys)
|
rs1375505148
|
0.00001
|
NM_000127.3(EXT1):c.1406A>G (p.Tyr469Cys)
|
rs750748090
|
0.00001
|
NM_000127.3(EXT1):c.1467C>G (p.Pro489=)
|
rs747800473
|
0.00001
|
NM_000127.3(EXT1):c.1504G>A (p.Val502Met)
|
rs778048374
|
0.00001
|
NM_000127.3(EXT1):c.1536+6C>T
|
rs765347315
|
0.00001
|
NM_000127.3(EXT1):c.1545T>A (p.Val515=)
|
rs200372337
|
0.00001
|
NM_000127.3(EXT1):c.1633-2A>G
|
rs1233701691
|
0.00001
|
NM_000127.3(EXT1):c.1634T>G (p.Val545Gly)
|
rs1368926188
|
0.00001
|
NM_000127.3(EXT1):c.1663A>G (p.Asn555Asp)
|
rs777698557
|
0.00001
|
NM_000127.3(EXT1):c.1704G>A (p.Thr568=)
|
rs146389596
|
0.00001
|
NM_000127.3(EXT1):c.1712C>T (p.Ser571Leu)
|
rs1305323658
|
0.00001
|
NM_000127.3(EXT1):c.1740A>G (p.Thr580=)
|
rs1340368285
|
0.00001
|
NM_000127.3(EXT1):c.1748A>G (p.Gln583Arg)
|
rs1309175788
|
0.00001
|
NM_000127.3(EXT1):c.1758T>C (p.Pro586=)
|
rs771063505
|
0.00001
|
NM_000127.3(EXT1):c.1765A>G (p.Ile589Val)
|
rs1823254644
|
0.00001
|
NM_000127.3(EXT1):c.1813C>T (p.Arg605Trp)
|
rs146967463
|
0.00001
|
NM_000127.3(EXT1):c.1839G>A (p.Thr613=)
|
rs765677175
|
0.00001
|
NM_000127.3(EXT1):c.1843G>A (p.Asp615Asn)
|
rs1252579899
|
0.00001
|
NM_000127.3(EXT1):c.1873A>G (p.Ile625Val)
|
rs773393953
|
0.00001
|
NM_000127.3(EXT1):c.1920C>T (p.Ala640=)
|
rs1480072354
|
0.00001
|
NM_000127.3(EXT1):c.2010C>T (p.Ile670=)
|
rs745677100
|
0.00001
|
NM_000127.3(EXT1):c.2055+17C>T
|
rs1295508874
|
0.00001
|
NM_000127.3(EXT1):c.2055+7A>C
|
rs889836376
|
0.00001
|
NM_000127.3(EXT1):c.2100G>A (p.Gln700=)
|
rs747703304
|
0.00001
|
NM_000127.3(EXT1):c.2121G>A (p.Thr707=)
|
rs746184779
|
0.00001
|
NM_000127.3(EXT1):c.2159C>G (p.Ser720Cys)
|
rs1373349863
|
0.00001
|
NM_000127.3(EXT1):c.2195A>G (p.Gln732Arg)
|
rs1188494289
|
0.00001
|
NM_000127.3(EXT1):c.2199C>G (p.Val733=)
|
rs201230140
|
0.00001
|
NM_000127.3(EXT1):c.252G>C (p.Gln84His)
|
rs376231630
|
0.00001
|
NM_000127.3(EXT1):c.296G>T (p.Arg99Leu)
|
rs778849200
|
0.00001
|
NM_000127.3(EXT1):c.302A>G (p.Glu101Gly)
|
rs1384997375
|
0.00001
|
NM_000127.3(EXT1):c.303G>A (p.Glu101=)
|
rs893833607
|
0.00001
|
NM_000127.3(EXT1):c.344A>G (p.Lys115Arg)
|
rs146127753
|
0.00001
|
NM_000127.3(EXT1):c.359C>T (p.Pro120Leu)
|
rs752226935
|
0.00001
|
NM_000127.3(EXT1):c.368A>G (p.Lys123Arg)
|
rs773394301
|
0.00001
|
NM_000127.3(EXT1):c.405A>G (p.Leu135=)
|
rs1401060657
|
0.00001
|
NM_000127.3(EXT1):c.419G>T (p.Gly140Val)
|
rs769557488
|
0.00001
|
NM_000127.3(EXT1):c.452C>A (p.Ala151Glu)
|
rs1385688129
|
0.00001
|
NM_000127.3(EXT1):c.590C>G (p.Ser197Cys)
|
rs776678803
|
0.00001
|
NM_000127.3(EXT1):c.686A>G (p.Asn229Ser)
|
rs753036738
|
0.00001
|
NM_000127.3(EXT1):c.69C>T (p.Phe23=)
|
rs200276819
|
0.00001
|
NM_000127.3(EXT1):c.725C>T (p.Pro242Leu)
|
rs906230630
|
0.00001
|
NM_000127.3(EXT1):c.973C>T (p.Arg325Trp)
|
rs1394508840
|
0.00001
|
NM_000222.3(KIT):c.1553C>T (p.Pro518Leu)
|
rs569408054
|
0.00001
|
NM_000222.3(KIT):c.2863G>T (p.Val955Leu)
|
rs1060502568
|
0.00001
|
NM_000222.3(KIT):c.2900C>G (p.Ser967Cys)
|
rs1232060384
|
0.00001
|
NM_000222.3(KIT):c.531C>T (p.Arg177=)
|
rs756722358
|
0.00001
|
NM_000264.5(PTCH1):c.203G>A (p.Gly68Glu)
|
rs757430199
|
0.00001
|
NM_000321.3(RB1):c.1174G>A (p.Ala392Thr)
|
rs181988132
|
0.00001
|
NM_000321.3(RB1):c.269G>T (p.Gly90Val)
|
rs554727080
|
0.00001
|
NM_000321.3(RB1):c.352A>T (p.Thr118Ser)
|
rs1429553692
|
0.00001
|
NM_000321.3(RB1):c.752G>A (p.Arg251Gln)
|
rs772678500
|
0.00001
|
NM_000368.5(TSC1):c.1355G>C (p.Gly452Ala)
|
rs371093730
|
0.00001
|
NM_000388.4(CASR):c.*1298A>G
|
rs1470056406
|
0.00001
|
NM_000388.4(CASR):c.*625G>A
|
rs886057833
|
0.00001
|
NM_000388.4(CASR):c.-10C>T
|
rs753659949
|
0.00001
|
NM_000388.4(CASR):c.108G>A (p.Gly36=)
|
rs781573002
|
0.00001
|
NM_000388.4(CASR):c.1091C>A (p.Ala364Glu)
|
rs200771541
|
0.00001
|
NM_000388.4(CASR):c.1140T>A (p.Ser380Arg)
|
rs145869851
|
0.00001
|
NM_000388.4(CASR):c.1149G>C (p.Arg383Ser)
|
rs148573275
|
0.00001
|
NM_000388.4(CASR):c.1163C>T (p.Ser388Leu)
|
rs377282860
|
0.00001
|
NM_000388.4(CASR):c.118A>G (p.Ile40Val)
|
rs1458833527
|
0.00001
|
NM_000388.4(CASR):c.1193A>G (p.Asp398Gly)
|
rs202101164
|
0.00001
|
NM_000388.4(CASR):c.1283C>T (p.Ala428Val)
|
rs895543540
|
0.00001
|
NM_000388.4(CASR):c.1297G>C (p.Asp433His)
|
rs199511990
|
0.00001
|
NM_000388.4(CASR):c.1452C>T (p.Asp484=)
|
rs776775141
|
0.00001
|
NM_000388.4(CASR):c.1478A>G (p.Asn493Ser)
|
rs140347078
|
0.00001
|
NM_000388.4(CASR):c.166G>T (p.Glu56Ter)
|
rs1358793834
|
0.00001
|
NM_000388.4(CASR):c.1843G>A (p.Ala615Thr)
|
rs768660050
|
0.00001
|
NM_000388.4(CASR):c.1887T>C (p.Phe629=)
|
rs750220557
|
0.00001
|
NM_000388.4(CASR):c.1912C>T (p.Arg638Cys)
|
rs1185593894
|
0.00001
|
NM_000388.4(CASR):c.1923C>T (p.Pro641=)
|
rs368093724
|
0.00001
|
NM_000388.4(CASR):c.2012A>T (p.Glu671Val)
|
rs199957040
|
0.00001
|
NM_000388.4(CASR):c.2027C>G (p.Thr676Arg)
|
rs768204447
|
0.00001
|
NM_000388.4(CASR):c.2039G>A (p.Arg680His)
|
rs773146939
|
0.00001
|
NM_000388.4(CASR):c.2046G>A (p.Pro682=)
|
rs760450976
|
0.00001
|
NM_000388.4(CASR):c.206G>A (p.Arg69His)
|
rs193922432
|
0.00001
|
NM_000388.4(CASR):c.2139C>T (p.Ser713=)
|
rs200384325
|
0.00001
|
NM_000388.4(CASR):c.2147G>A (p.Arg716His)
|
rs201670662
|
0.00001
|
NM_000388.4(CASR):c.2216G>A (p.Cys739Tyr)
|
rs375468610
|
0.00001
|
NM_000388.4(CASR):c.2255G>A (p.Arg752His)
|
rs771529256
|
0.00001
|
NM_000388.4(CASR):c.232A>G (p.Ile78Val)
|
rs769294626
|
0.00001
|
NM_000388.4(CASR):c.2405A>G (p.Asn802Ser)
|
rs140022350
|
0.00001
|
NM_000388.4(CASR):c.2437A>G (p.Ile813Val)
|
rs746541034
|
0.00001
|
NM_000388.4(CASR):c.2551T>A (p.Cys851Ser)
|
rs200777304
|
0.00001
|
NM_000388.4(CASR):c.2677A>G (p.Asn893Asp)
|
rs1392921552
|
0.00001
|
NM_000388.4(CASR):c.2680G>A (p.Val894Ile)
|
rs200883282
|
0.00001
|
NM_000388.4(CASR):c.269A>C (p.Asn90Thr)
|
rs193922439
|
0.00001
|
NM_000388.4(CASR):c.2819A>C (p.Gln940Pro)
|
rs1293909274
|
0.00001
|
NM_000388.4(CASR):c.2915C>T (p.Thr972Met)
|
rs200620134
|
0.00001
|
NM_000388.4(CASR):c.2994G>A (p.Leu998=)
|
rs200260696
|
0.00001
|
NM_000388.4(CASR):c.3018G>A (p.Thr1006=)
|
rs748637478
|
0.00001
|
NM_000388.4(CASR):c.3054C>T (p.Cys1018=)
|
rs371038712
|
0.00001
|
NM_000388.4(CASR):c.3197G>A (p.Gly1066Asp)
|
rs769439564
|
0.00001
|
NM_000388.4(CASR):c.40A>G (p.Thr14Ala)
|
rs199515839
|
0.00001
|
NM_000388.4(CASR):c.537A>G (p.Gln179=)
|
rs200129212
|
0.00001
|
NM_000388.4(CASR):c.53C>T (p.Ser18Phe)
|
rs749748004
|
0.00001
|
NM_000388.4(CASR):c.614G>A (p.Arg205His)
|
rs763162046
|
0.00001
|
NM_000388.4(CASR):c.649G>A (p.Asp217Asn)
|
rs201091657
|
0.00001
|
NM_000388.4(CASR):c.738C>T (p.Tyr246=)
|
rs895337411
|
0.00001
|
NM_000388.4(CASR):c.813C>A (p.Ser271=)
|
rs759939185
|
0.00001
|
NM_000388.4(CASR):c.857G>A (p.Arg286His)
|
rs922511747
|
0.00001
|
NM_000388.4(CASR):c.946G>A (p.Gly316Ser)
|
rs755997016
|
0.00001
|
NM_000388.4(CASR):c.98T>G (p.Ile33Ser)
|
rs758232331
|
0.00001
|
NM_000516.7(GNAS):c.111C>T (p.Tyr37=)
|
rs749235261
|
0.00001
|
NM_000516.7(GNAS):c.136C>T (p.Leu46=)
|
rs775009418
|
0.00001
|
NM_000516.7(GNAS):c.258-7A>C
|
rs1183884518
|
0.00001
|
NM_000516.7(GNAS):c.367G>A (p.Glu123Lys)
|
rs769546153
|
0.00001
|
NM_000516.7(GNAS):c.601C>T (p.Arg201Cys)
|
rs11554273
|
0.00001
|
NM_000516.7(GNAS):c.602G>A (p.Arg201His)
|
rs121913495
|
0.00001
|
NM_000516.7(GNAS):c.660-15C>A
|
rs755766644
|
0.00001
|
NM_000516.7(GNAS):c.683G>A (p.Arg228His)
|
rs1317816474
|
0.00001
|
NM_000516.7(GNAS):c.738C>T (p.Phe246=)
|
rs772094317
|
0.00001
|
NM_000546.6(TP53):c.1000G>C (p.Gly334Arg)
|
rs730882028
|
0.00001
|
NM_000546.6(TP53):c.1010G>A (p.Arg337His)
|
rs121912664
|
0.00001
|
NM_000546.6(TP53):c.374C>T (p.Thr125Met)
|
rs786201057
|
0.00001
|
NM_000546.6(TP53):c.461G>A (p.Gly154Asp)
|
rs762846821
|
0.00001
|
NM_000546.6(TP53):c.524G>A (p.Arg175His)
|
rs28934578
|
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.733G>A (p.Gly245Ser)
|
rs28934575
|
0.00001
|
NM_000546.6(TP53):c.760A>G (p.Ile254Val)
|
rs746601313
|
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.-148C>A
|
rs886052792
|
0.00001
|
NM_001042492.3(NF1):c.1062+7T>C
|
rs979521240
|
0.00001
|
NM_001042492.3(NF1):c.1130T>C (p.Ile377Thr)
|
rs878853863
|
0.00001
|
NM_001042492.3(NF1):c.1185+7G>A
|
rs1322791959
|
0.00001
|
NM_001042492.3(NF1):c.1186-12C>G
|
rs1473811436
|
0.00001
|
NM_001042492.3(NF1):c.1219C>T (p.His407Tyr)
|
rs1156614886
|
0.00001
|
NM_001042492.3(NF1):c.1264G>A (p.Ala422Thr)
|
rs786202145
|
0.00001
|
NM_001042492.3(NF1):c.1318C>T (p.Arg440Ter)
|
rs778405030
|
0.00001
|
NM_001042492.3(NF1):c.1319G>A (p.Arg440Gln)
|
rs1466678870
|
0.00001
|
NM_001042492.3(NF1):c.1356A>G (p.Gln452=)
|
rs1324833228
|
0.00001
|
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys)
|
rs137854557
|
0.00001
|
NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs)
|
rs267606600
|
0.00001
|
NM_001042492.3(NF1):c.1662G>T (p.Gln554His)
|
rs147594815
|
0.00001
|
NM_001042492.3(NF1):c.1801C>T (p.Arg601Trp)
|
rs587782592
|
0.00001
|
NM_001042492.3(NF1):c.1849G>A (p.Ala617Thr)
|
rs1131691135
|
0.00001
|
NM_001042492.3(NF1):c.1907C>G (p.Ser636Cys)
|
rs780412565
|
0.00001
|
NM_001042492.3(NF1):c.200A>G (p.Asn67Ser)
|
rs375038808
|
0.00001
|
NM_001042492.3(NF1):c.2054C>G (p.Thr685Ser)
|
rs876658190
|
0.00001
|
NM_001042492.3(NF1):c.2159G>A (p.Arg720Gln)
|
rs1350468182
|
0.00001
|
NM_001042492.3(NF1):c.2251+5A>G
|
rs786201934
|
0.00001
|
NM_001042492.3(NF1):c.2293C>T (p.Arg765Cys)
|
rs1383770460
|
0.00001
|
NM_001042492.3(NF1):c.2326-9T>A
|
rs181838967
|
0.00001
|
NM_001042492.3(NF1):c.2345C>G (p.Ala782Gly)
|
rs1203924788
|
0.00001
|
NM_001042492.3(NF1):c.2434A>C (p.Ile812Leu)
|
rs587781899
|
0.00001
|
NM_001042492.3(NF1):c.2476A>C (p.Ile826Leu)
|
rs767069721
|
0.00001
|
NM_001042492.3(NF1):c.2573C>G (p.Ser858Cys)
|
rs369493270
|
0.00001
|
NM_001042492.3(NF1):c.2624G>T (p.Gly875Val)
|
rs1060500361
|
0.00001
|
NM_001042492.3(NF1):c.2643G>A (p.Met881Ile)
|
rs376666221
|
0.00001
|
NM_001042492.3(NF1):c.2659G>A (p.Ala887Thr)
|
rs1251621684
|
0.00001
|
NM_001042492.3(NF1):c.2740C>T (p.Arg914Trp)
|
rs765848298
|
0.00001
|
NM_001042492.3(NF1):c.278G>A (p.Cys93Tyr)
|
rs199474728
|
0.00001
|
NM_001042492.3(NF1):c.2794A>G (p.Met932Val)
|
rs886052800
|
0.00001
|
NM_001042492.3(NF1):c.2795T>C (p.Met932Thr)
|
rs876659779
|
0.00001
|
NM_001042492.3(NF1):c.2803A>C (p.Asn935His)
|
rs786201823
|
0.00001
|
NM_001042492.3(NF1):c.2825G>A (p.Ser942Asn)
|
rs1555614350
|
0.00001
|
NM_001042492.3(NF1):c.3013A>G (p.Met1005Val)
|
rs1555614502
|
0.00001
|
NM_001042492.3(NF1):c.3197+3A>G
|
rs1359512152
|
0.00001
|
NM_001042492.3(NF1):c.3198-4_3198-3dup
|
rs1555614809
|
0.00001
|
NM_001042492.3(NF1):c.3352A>G (p.Ser1118Gly)
|
rs201645318
|
0.00001
|
NM_001042492.3(NF1):c.3359T>C (p.Val1120Ala)
|
rs751571517
|
0.00001
|
NM_001042492.3(NF1):c.3395G>A (p.Arg1132His)
|
rs778920556
|
0.00001
|
NM_001042492.3(NF1):c.348A>T (p.Glu116Asp)
|
rs1231174547
|
0.00001
|
NM_001042492.3(NF1):c.3490T>G (p.Ser1164Ala)
|
rs750303863
|
0.00001
|
NM_001042492.3(NF1):c.3527G>T (p.Arg1176Ile)
|
rs1227027709
|
0.00001
|
NM_001042492.3(NF1):c.3694C>T (p.Pro1232Ser)
|
rs1482085668
|
0.00001
|
NM_001042492.3(NF1):c.3749G>A (p.Arg1250Gln)
|
rs199474765
|
0.00001
|
NM_001042492.3(NF1):c.374G>A (p.Arg125His)
|
rs149003051
|
0.00001
|
NM_001042492.3(NF1):c.3778A>G (p.Met1260Val)
|
rs1264981144
|
0.00001
|
NM_001042492.3(NF1):c.3811A>G (p.Met1271Val)
|
rs746583007
|
0.00001
|
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln)
|
rs137854556
|
0.00001
|
NM_001042492.3(NF1):c.3871-18A>G
|
rs748424913
|
0.00001
|
NM_001042492.3(NF1):c.3976T>A (p.Leu1326Ile)
|
rs765957571
|
0.00001
|
NM_001042492.3(NF1):c.4055G>C (p.Ser1352Thr)
|
rs876660908
|
0.00001
|
NM_001042492.3(NF1):c.4187G>A (p.Arg1396His)
|
rs368685980
|
0.00001
|
NM_001042492.3(NF1):c.4201A>T (p.Ser1401Cys)
|
rs1060500310
|
0.00001
|
NM_001042492.3(NF1):c.4206C>T (p.Ile1402=)
|
rs864622406
|
0.00001
|
NM_001042492.3(NF1):c.4306G>A (p.Glu1436Lys)
|
rs876660428
|
0.00001
|
NM_001042492.3(NF1):c.4385G>A (p.Arg1462Gln)
|
rs370852681
|
0.00001
|
NM_001042492.3(NF1):c.4409G>A (p.Ser1470Asn)
|
rs876660093
|
0.00001
|
NM_001042492.3(NF1):c.4503C>T (p.Asp1501=)
|
rs577394398
|
0.00001
|
NM_001042492.3(NF1):c.4504G>A (p.Gly1502Ser)
|
rs876659607
|
0.00001
|
NM_001042492.3(NF1):c.451A>C (p.Asn151His)
|
rs769391944
|
0.00001
|
NM_001042492.3(NF1):c.452A>G (p.Asn151Ser)
|
rs1567817981
|
0.00001
|
NM_001042492.3(NF1):c.4635C>T (p.Tyr1545=)
|
rs754023358
|
0.00001
|
NM_001042492.3(NF1):c.4724+3A>G
|
rs781147524
|
0.00001
|
NM_001042492.3(NF1):c.4766C>T (p.Thr1589Met)
|
rs185660700
|
0.00001
|
NM_001042492.3(NF1):c.4813A>G (p.Ile1605Val)
|
rs199474766
|
0.00001
|
NM_001042492.3(NF1):c.4836G>A (p.Arg1612=)
|
rs1555533268
|
0.00001
|
NM_001042492.3(NF1):c.4859G>A (p.Gly1620Asp)
|
rs587782213
|
0.00001
|
NM_001042492.3(NF1):c.4860T>C (p.Gly1620=)
|
rs864622747
|
0.00001
|
NM_001042492.3(NF1):c.5098C>T (p.Leu1700Phe)
|
rs775786295
|
0.00001
|
NM_001042492.3(NF1):c.5269-19C>T
|
rs755620051
|
0.00001
|
NM_001042492.3(NF1):c.5344A>G (p.Ile1782Val)
|
rs1160436761
|
0.00001
|
NM_001042492.3(NF1):c.5351A>T (p.Tyr1784Phe)
|
rs1060500280
|
0.00001
|
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys)
|
rs797045139
|
0.00001
|
NM_001042492.3(NF1):c.5578C>G (p.Leu1860Val)
|
rs746689492
|
0.00001
|
NM_001042492.3(NF1):c.574C>T (p.Arg192Ter)
|
rs397514641
|
0.00001
|
NM_001042492.3(NF1):c.575G>A (p.Arg192Gln)
|
rs587781670
|
0.00001
|
NM_001042492.3(NF1):c.5768C>T (p.Thr1923Met)
|
rs786203824
|
0.00001
|
NM_001042492.3(NF1):c.60+11C>T
|
rs565515877
|
0.00001
|
NM_001042492.3(NF1):c.6006+17A>G
|
rs748186225
|
0.00001
|
NM_001042492.3(NF1):c.6322A>T (p.Thr2108Ser)
|
rs1024333224
|
0.00001
|
NM_001042492.3(NF1):c.6646T>A (p.Cys2216Ser)
|
rs757736155
|
0.00001
|
NM_001042492.3(NF1):c.6665C>T (p.Thr2222Met)
|
rs369803831
|
0.00001
|
NM_001042492.3(NF1):c.6666G>A (p.Thr2222=)
|
rs780247942
|
0.00001
|
NM_001042492.3(NF1):c.6704+1G>T
|
rs1060500376
|
0.00001
|
NM_001042492.3(NF1):c.6773G>A (p.Arg2258Gln)
|
rs786202030
|
0.00001
|
NM_001042492.3(NF1):c.6922-8T>C
|
rs191255643
|
0.00001
|
NM_001042492.3(NF1):c.6936C>G (p.His2312Gln)
|
rs1567618937
|
0.00001
|
NM_001042492.3(NF1):c.7009C>T (p.Leu2337Phe)
|
rs367734104
|
0.00001
|
NM_001042492.3(NF1):c.7039A>G (p.Ser2347Gly)
|
rs1060500318
|
0.00001
|
NM_001042492.3(NF1):c.703T>C (p.Tyr235His)
|
rs864622465
|
0.00001
|
NM_001042492.3(NF1):c.7044C>T (p.Leu2348=)
|
rs1350755921
|
0.00001
|
NM_001042492.3(NF1):c.7045C>T (p.Arg2349Cys)
|
rs56013763
|
0.00001
|
NM_001042492.3(NF1):c.7092G>A (p.Arg2364=)
|
rs762081710
|
0.00001
|
NM_001042492.3(NF1):c.7213A>G (p.Ile2405Val)
|
rs565708398
|
0.00001
|
NM_001042492.3(NF1):c.7332A>G (p.Thr2444=)
|
rs759005886
|
0.00001
|
NM_001042492.3(NF1):c.7370A>G (p.His2457Arg)
|
rs863224664
|
0.00001
|
NM_001042492.3(NF1):c.7396A>G (p.Ile2466Val)
|
rs748027595
|
0.00001
|
NM_001042492.3(NF1):c.7432A>G (p.Ile2478Val)
|
rs759307070
|
0.00001
|
NM_001042492.3(NF1):c.7439A>G (p.His2480Arg)
|
rs371151718
|
0.00001
|
NM_001042492.3(NF1):c.7456A>G (p.Arg2486Gly)
|
rs752162999
|
0.00001
|
NM_001042492.3(NF1):c.7487C>G (p.Ser2496Cys)
|
rs371773406
|
0.00001
|
NM_001042492.3(NF1):c.7496G>T (p.Gly2499Val)
|
rs375176282
|
0.00001
|
NM_001042492.3(NF1):c.7533C>T (p.Val2511=)
|
rs760733171
|
0.00001
|
NM_001042492.3(NF1):c.7534G>A (p.Gly2512Ser)
|
rs766496842
|
0.00001
|
NM_001042492.3(NF1):c.7585C>T (p.Pro2529Ser)
|
rs1555536370
|
0.00001
|
NM_001042492.3(NF1):c.7615+19T>C
|
rs773687866
|
0.00001
|
NM_001042492.3(NF1):c.7643T>G (p.Ile2548Arg)
|
rs864622266
|
0.00001
|
NM_001042492.3(NF1):c.7729T>C (p.Tyr2577His)
|
rs778143477
|
0.00001
|
NM_001042492.3(NF1):c.7780C>T (p.Arg2594Cys)
|
rs372787215
|
0.00001
|
NM_001042492.3(NF1):c.7850C>T (p.Ala2617Val)
|
rs375990655
|
0.00001
|
NM_001042492.3(NF1):c.7869+9T>C
|
rs940367528
|
0.00001
|
NM_001042492.3(NF1):c.7876C>G (p.Leu2626Val)
|
rs1555536748
|
0.00001
|
NM_001042492.3(NF1):c.7889C>G (p.Thr2630Ser)
|
rs1283946778
|
0.00001
|
NM_001042492.3(NF1):c.7891A>G (p.Thr2631Ala)
|
rs199474793
|
0.00001
|
NM_001042492.3(NF1):c.7970+16T>G
|
rs967311672
|
0.00001
|
NM_001042492.3(NF1):c.8150C>T (p.Pro2717Leu)
|
rs778799019
|
0.00001
|
NM_001042492.3(NF1):c.8238T>G (p.Ile2746Met)
|
rs779789452
|
0.00001
|
NM_001042492.3(NF1):c.8446G>A (p.Gly2816Arg)
|
rs778233452
|
0.00001
|
NM_001042492.3(NF1):c.8451C>T (p.Ser2817=)
|
rs547090599
|
0.00001
|
NM_001042492.3(NF1):c.845A>G (p.Gln282Arg)
|
rs779034900
|
0.00001
|
NM_001042492.3(NF1):c.889-6del
|
rs864622362
|
0.00001
|
NM_001042492.3(NF1):c.890A>G (p.Lys297Arg)
|
rs1219929525
|
0.00001
|
NM_001042492.3(NF1):c.964A>G (p.Ile322Val)
|
rs755007999
|
0.00001
|
NM_001370259.2(MEN1):c.784-129T>A
|
rs536461697
|
0.00001
|
NM_001754.5(RUNX1):c.1041G>A (p.Met347Ile)
|
rs370114565
|
0.00001
|
NM_001754.5(RUNX1):c.11A>G (p.Asp4Gly)
|
rs534158221
|
0.00001
|
NM_001754.5(RUNX1):c.1229C>T (p.Ser410Leu)
|
rs1214667759
|
0.00001
|
NM_001754.5(RUNX1):c.1322T>G (p.Leu441Arg)
|
rs777551786
|
0.00001
|
NM_001754.5(RUNX1):c.1354G>A (p.Val452Met)
|
rs916623598
|
0.00001
|
NM_001754.5(RUNX1):c.1403C>T (p.Pro468Leu)
|
rs1034562071
|
0.00001
|
NM_001754.5(RUNX1):c.146C>T (p.Pro49Leu)
|
rs752298116
|
0.00001
|
NM_001754.5(RUNX1):c.182C>T (p.Pro61Leu)
|
rs769213771
|
0.00001
|
NM_001754.5(RUNX1):c.239A>C (p.Glu80Ala)
|
rs1313711063
|
0.00001
|
NM_001754.5(RUNX1):c.35C>T (p.Ser12Leu)
|
rs750755857
|
0.00001
|
NM_001754.5(RUNX1):c.367G>C (p.Asp123His)
|
rs373498347
|
0.00001
|
NM_001754.5(RUNX1):c.421T>G (p.Ser141Ala)
|
rs1182543054
|
0.00001
|
NM_001754.5(RUNX1):c.697C>T (p.Arg233Cys)
|
rs765528082
|
0.00001
|
NM_001754.5(RUNX1):c.764A>G (p.His255Arg)
|
rs746977462
|
0.00001
|
NM_001754.5(RUNX1):c.973C>T (p.Pro325Ser)
|
rs746531841
|
0.00001
|
NM_002451.4(MTAP):c.*1093G>T
|
rs1825785660
|
0.00001
|
NM_002451.4(MTAP):c.*1399C>A
|
rs1825792275
|
0.00001
|
NM_002451.4(MTAP):c.*17A>G
|
rs553057304
|
0.00001
|
NM_002451.4(MTAP):c.*2183T>C
|
rs1825811023
|
0.00001
|
NM_002451.4(MTAP):c.*2188C>T
|
rs117300281
|
0.00001
|
NM_002451.4(MTAP):c.*2286A>G
|
rs1825813138
|
0.00001
|
NM_002451.4(MTAP):c.*2606G>C
|
rs886063792
|
0.00001
|
NM_002451.4(MTAP):c.*3766C>T
|
rs149649469
|
0.00001
|
NM_002451.4(MTAP):c.*730A>G
|
rs1031531828
|
0.00001
|
NM_002451.4(MTAP):c.*912A>G
|
rs1825783181
|
0.00001
|
NM_002451.4(MTAP):c.-108_-103del
|
rs886063780
|
0.00001
|
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp)
|
rs121913237
|
0.00001
|
NM_002609.4(PDGFRB):c.419C>T (p.Thr140Met)
|
rs138830253
|
0.00001
|
NM_002834.5(PTPN11):c.1011G>A (p.Thr337=)
|
rs371951288
|
0.00001
|
NM_002834.5(PTPN11):c.1047C>T (p.Asn349=)
|
rs1222504763
|
0.00001
|
NM_002834.5(PTPN11):c.1048T>G (p.Ser350Ala)
|
rs146571700
|
0.00001
|
NM_002834.5(PTPN11):c.1124A>G (p.Tyr375Cys)
|
rs41299183
|
0.00001
|
NM_002834.5(PTPN11):c.1131A>C (p.Leu377=)
|
rs370059077
|
0.00001
|
NM_002834.5(PTPN11):c.1233G>A (p.Thr411=)
|
rs1325353647
|
0.00001
|
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met)
|
rs121918457
|
0.00001
|
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp)
|
rs397507541
|
0.00001
|
NM_002834.5(PTPN11):c.1508G>A (p.Gly503Glu)
|
rs397507546
|
0.00001
|
NM_002834.5(PTPN11):c.1650G>A (p.Ala550=)
|
rs374896287
|
0.00001
|
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)
|
rs121918459
|
0.00001
|
NM_002834.5(PTPN11):c.244A>G (p.Met82Val)
|
rs397507515
|
0.00001
|
NM_002834.5(PTPN11):c.289G>C (p.Glu97Gln)
|
rs397507516
|
0.00001
|
NM_002834.5(PTPN11):c.563A>G (p.Asp188Gly)
|
rs1436513335
|
0.00001
|
NM_002834.5(PTPN11):c.642G>A (p.Gln214=)
|
rs876661383
|
0.00001
|
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val)
|
rs397507529
|
0.00001
|
NM_002834.5(PTPN11):c.874C>T (p.Leu292=)
|
rs930267460
|
0.00001
|
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)
|
rs28933386
|
0.00001
|
NM_002834.5(PTPN11):c.931A>G (p.Met311Val)
|
rs774939392
|
0.00001
|
NM_002834.5(PTPN11):c.957C>T (p.Asn319=)
|
rs771407775
|
0.00001
|
NM_002834.5(PTPN11):c.996C>T (p.Gly332=)
|
rs397507533
|
0.00001
|
NM_003977.4(AIP):c.100-6C>A
|
rs539027647
|
0.00001
|
NM_003977.4(AIP):c.115C>T (p.Arg39Trp)
|
rs781366620
|
0.00001
|
NM_003977.4(AIP):c.140G>A (p.Gly47Asp)
|
rs1164577485
|
0.00001
|
NM_003977.4(AIP):c.144C>T (p.Thr48=)
|
rs772658134
|
0.00001
|
NM_003977.4(AIP):c.160C>T (p.Arg54Trp)
|
rs752553438
|
0.00001
|
NM_003977.4(AIP):c.166C>T (p.Arg56Cys)
|
rs267606538
|
0.00001
|
NM_003977.4(AIP):c.174G>C (p.Lys58Asn)
|
rs267606539
|
0.00001
|
NM_003977.4(AIP):c.316C>T (p.Arg106Cys)
|
rs369414668
|
0.00001
|
NM_003977.4(AIP):c.419C>T (p.Ala140Val)
|
rs762219351
|
0.00001
|
NM_003977.4(AIP):c.468+3G>A
|
rs868823652
|
0.00001
|
NM_003977.4(AIP):c.469-17T>C
|
rs886037872
|
0.00001
|
NM_003977.4(AIP):c.476G>A (p.Ser159Asn)
|
rs536239840
|
0.00001
|
NM_003977.4(AIP):c.571C>T (p.Arg191Cys)
|
rs189861025
|
0.00001
|
NM_003977.4(AIP):c.721A>G (p.Lys241Glu)
|
rs267606573
|
0.00001
|
NM_003977.4(AIP):c.73C>T (p.Leu25Phe)
|
rs777083581
|
0.00001
|
NM_003977.4(AIP):c.745G>A (p.Glu249Lys)
|
rs1313811815
|
0.00001
|
NM_003977.4(AIP):c.783C>T (p.Tyr261=)
|
rs267606576
|
0.00001
|
NM_003977.4(AIP):c.792C>T (p.Asn264=)
|
rs780707460
|
0.00001
|
NM_003977.4(AIP):c.79G>C (p.Asp27His)
|
rs1024903808
|
0.00001
|
NM_003977.4(AIP):c.910C>T (p.Arg304Ter)
|
rs104894195
|
0.00001
|
NM_003977.4(AIP):c.944A>C (p.Gln315Pro)
|
rs886048585
|
0.00001
|
NM_004119.3(FLT3):c.2525A>G (p.Tyr842Cys)
|
rs376588714
|
0.00001
|
NM_004304.5(ALK):c.1193A>G (p.Asn398Ser)
|
rs754512910
|
0.00001
|
NM_004304.5(ALK):c.3271G>A (p.Asp1091Asn)
|
rs864309584
|
0.00001
|
NM_004327.4(BCR):c.1149C>T (p.Pro383=)
|
rs775817981
|
0.00001
|
NM_004327.4(BCR):c.685C>T (p.Pro229Ser)
|
rs1441856766
|
0.00001
|
NM_004364.5(CEBPA):c.1000G>C (p.Glu334Gln)
|
rs369632687
|
0.00001
|
NM_004364.5(CEBPA):c.1010C>T (p.Thr337Met)
|
rs760372994
|
0.00001
|
NM_004364.5(CEBPA):c.1019G>A (p.Gly340Asp)
|
rs1410617603
|
0.00001
|
NM_004364.5(CEBPA):c.1020C>A (p.Gly340=)
|
rs1226278699
|
0.00001
|
NM_004364.5(CEBPA):c.1027C>T (p.Arg343Cys)
|
rs1439202716
|
0.00001
|
NM_004364.5(CEBPA):c.1048T>C (p.Leu350=)
|
rs1348854829
|
0.00001
|
NM_004364.5(CEBPA):c.105G>A (p.Arg35=)
|
rs1316909243
|
0.00001
|
NM_004364.5(CEBPA):c.1073C>G (p.Ala358Gly)
|
rs577659401
|
0.00001
|
NM_004364.5(CEBPA):c.108C>T (p.Gly36=)
|
rs1399064538
|
0.00001
|
NM_004364.5(CEBPA):c.10G>T (p.Ala4Ser)
|
rs1415169403
|
0.00001
|
NM_004364.5(CEBPA):c.111G>C (p.Ala37=)
|
rs1323312485
|
0.00001
|
NM_004364.5(CEBPA):c.117C>A (p.Pro39=)
|
rs1318381484
|
0.00001
|
NM_004364.5(CEBPA):c.131C>T (p.Ala44Val)
|
rs1967197829
|
0.00001
|
NM_004364.5(CEBPA):c.134_163del (p.Pro45_Ile55delinsLeu)
|
rs1346240180
|
0.00001
|
NM_004364.5(CEBPA):c.138T>C (p.Pro46=)
|
rs1387400759
|
0.00001
|
NM_004364.5(CEBPA):c.139G>T (p.Ala47Ser)
|
rs1182161658
|
0.00001
|
NM_004364.5(CEBPA):c.152C>T (p.Pro51Leu)
|
rs1341205888
|
0.00001
|
NM_004364.5(CEBPA):c.153G>C (p.Pro51=)
|
rs1054442664
|
0.00001
|
NM_004364.5(CEBPA):c.179C>T (p.Thr60Met)
|
rs1060502119
|
0.00001
|
NM_004364.5(CEBPA):c.187G>A (p.Asp63Asn)
|
rs1452063514
|
0.00001
|
NM_004364.5(CEBPA):c.210G>A (p.Pro70=)
|
rs1432277634
|
0.00001
|
NM_004364.5(CEBPA):c.225C>G (p.Asp75Glu)
|
rs949548349
|
0.00001
|
NM_004364.5(CEBPA):c.246C>A (p.Phe82Leu)
|
rs917977456
|
0.00001
|
NM_004364.5(CEBPA):c.24G>A (p.Glu8=)
|
rs1967204947
|
0.00001
|
NM_004364.5(CEBPA):c.285G>A (p.Val95=)
|
rs1248062306
|
0.00001
|
NM_004364.5(CEBPA):c.288C>T (p.Gly96=)
|
rs919975422
|
0.00001
|
NM_004364.5(CEBPA):c.298G>A (p.Gly100Ser)
|
rs1289919155
|
0.00001
|
NM_004364.5(CEBPA):c.305G>A (p.Gly102Asp)
|
rs1358539228
|
0.00001
|
NM_004364.5(CEBPA):c.319G>T (p.Asp107Tyr)
|
rs1158593564
|
0.00001
|
NM_004364.5(CEBPA):c.325C>G (p.Pro109Ala)
|
rs1027991203
|
0.00001
|
NM_004364.5(CEBPA):c.331G>T (p.Ala111Ser)
|
rs996591962
|
0.00001
|
NM_004364.5(CEBPA):c.334C>G (p.Pro112Ala)
|
rs957253046
|
0.00001
|
NM_004364.5(CEBPA):c.368G>A (p.Gly123Glu)
|
rs1600023321
|
0.00001
|
NM_004364.5(CEBPA):c.373C>T (p.His125Tyr)
|
rs896656951
|
0.00001
|
NM_004364.5(CEBPA):c.379C>G (p.Pro127Ala)
|
rs1055210725
|
0.00001
|
NM_004364.5(CEBPA):c.382C>T (p.Pro128Ser)
|
rs1362518517
|
0.00001
|
NM_004364.5(CEBPA):c.408C>A (p.Ala136=)
|
rs1265798915
|
0.00001
|
NM_004364.5(CEBPA):c.40C>G (p.Pro14Ala)
|
rs1379627026
|
0.00001
|
NM_004364.5(CEBPA):c.413A>T (p.Tyr138Phe)
|
rs908433906
|
0.00001
|
NM_004364.5(CEBPA):c.429G>A (p.Leu143=)
|
rs1429417241
|
0.00001
|
NM_004364.5(CEBPA):c.42G>A (p.Pro14=)
|
rs1967203363
|
0.00001
|
NM_004364.5(CEBPA):c.447C>T (p.Arg149=)
|
rs1967184069
|
0.00001
|
NM_004364.5(CEBPA):c.459G>A (p.Pro153=)
|
rs779373951
|
0.00001
|
NM_004364.5(CEBPA):c.45G>A (p.Met15Ile)
|
rs1366281839
|
0.00001
|
NM_004364.5(CEBPA):c.462G>C (p.Ala154=)
|
rs1481499354
|
0.00001
|
NM_004364.5(CEBPA):c.467G>A (p.Arg156Gln)
|
rs1198903435
|
0.00001
|
NM_004364.5(CEBPA):c.484C>A (p.Gln162Lys)
|
rs1967182561
|
0.00001
|
NM_004364.5(CEBPA):c.496G>A (p.Glu166Lys)
|
rs755311871
|
0.00001
|
NM_004364.5(CEBPA):c.501G>A (p.Glu167=)
|
rs1277875501
|
0.00001
|
NM_004364.5(CEBPA):c.51C>A (p.Ser17Arg)
|
rs1245499278
|
0.00001
|
NM_004364.5(CEBPA):c.522G>A (p.Ala174=)
|
rs1272249243
|
0.00001
|
NM_004364.5(CEBPA):c.529G>C (p.Gly177Arg)
|
rs1223584541
|
0.00001
|
NM_004364.5(CEBPA):c.532C>G (p.Leu178Val)
|
rs1325138029
|
0.00001
|
NM_004364.5(CEBPA):c.541T>C (p.Tyr181His)
|
rs1060502124
|
0.00001
|
NM_004364.5(CEBPA):c.547C>T (p.Pro183Ser)
|
rs998501847
|
0.00001
|
NM_004364.5(CEBPA):c.555G>A (p.Pro185=)
|
rs754400471
|
0.00001
|
NM_004364.5(CEBPA):c.569C>T (p.Ser190Leu)
|
rs1555742114
|
0.00001
|
NM_004364.5(CEBPA):c.570G>A (p.Ser190=)
|
rs1178690668
|
0.00001
|
NM_004364.5(CEBPA):c.575C>T (p.Pro192Leu)
|
rs1247330890
|
0.00001
|
NM_004364.5(CEBPA):c.593C>T (p.Pro198Leu)
|
rs1568419736
|
0.00001
|
NM_004364.5(CEBPA):c.59A>G (p.Gln20Arg)
|
rs1329725504
|
0.00001
|
NM_004364.5(CEBPA):c.603G>A (p.Leu201=)
|
rs1555742086
|
0.00001
|
NM_004364.5(CEBPA):c.609C>G (p.Ala203=)
|
rs1394828055
|
0.00001
|
NM_004364.5(CEBPA):c.623T>C (p.Phe208Ser)
|
rs1347174767
|
0.00001
|
NM_004364.5(CEBPA):c.633G>T (p.Ala211=)
|
rs1345901618
|
0.00001
|
NM_004364.5(CEBPA):c.642C>T (p.Gly214=)
|
rs1301372441
|
0.00001
|
NM_004364.5(CEBPA):c.652A>G (p.Met218Val)
|
rs1378898437
|
0.00001
|
NM_004364.5(CEBPA):c.68C>T (p.Pro23Leu)
|
rs1308550194
|
0.00001
|
NM_004364.5(CEBPA):c.696G>T (p.Val232=)
|
rs1213133617
|
0.00001
|
NM_004364.5(CEBPA):c.697C>A (p.Pro233Thr)
|
rs933936962
|
0.00001
|
NM_004364.5(CEBPA):c.705G>T (p.Pro235=)
|
rs1600022049
|
0.00001
|
NM_004364.5(CEBPA):c.733G>A (p.Gly245Ser)
|
rs1315043080
|
0.00001
|
NM_004364.5(CEBPA):c.734G>C (p.Gly245Ala)
|
rs1189516787
|
0.00001
|
NM_004364.5(CEBPA):c.754G>T (p.Ala252Ser)
|
rs1049967
|
0.00001
|
NM_004364.5(CEBPA):c.762G>A (p.Lys254=)
|
rs1366451304
|
0.00001
|
NM_004364.5(CEBPA):c.773C>G (p.Ala258Gly)
|
rs1340981881
|
0.00001
|
NM_004364.5(CEBPA):c.776C>T (p.Ala259Val)
|
rs746895795
|
0.00001
|
NM_004364.5(CEBPA):c.780C>T (p.His260=)
|
rs1429055509
|
0.00001
|
NM_004364.5(CEBPA):c.781C>T (p.Pro261Ser)
|
rs1263173603
|
0.00001
|
NM_004364.5(CEBPA):c.786C>T (p.Asp262=)
|
rs747881336
|
0.00001
|
NM_004364.5(CEBPA):c.787C>T (p.Leu263Phe)
|
rs1357810737
|
0.00001
|
NM_004364.5(CEBPA):c.790C>T (p.Arg264Cys)
|
rs1228704709
|
0.00001
|
NM_004364.5(CEBPA):c.791G>C (p.Arg264Pro)
|
rs1294426980
|
0.00001
|
NM_004364.5(CEBPA):c.803G>T (p.Gly268Val)
|
rs780335632
|
0.00001
|
NM_004364.5(CEBPA):c.822C>T (p.Ala274=)
|
rs1967166737
|
0.00001
|
NM_004364.5(CEBPA):c.837C>T (p.Asp279=)
|
rs1489721042
|
0.00001
|
NM_004364.5(CEBPA):c.861G>A (p.Val287=)
|
rs981299051
|
0.00001
|
NM_004364.5(CEBPA):c.892A>C (p.Lys298Gln)
|
rs1392203731
|
0.00001
|
NM_004364.5(CEBPA):c.893A>G (p.Lys298Arg)
|
rs1391793930
|
0.00001
|
NM_004364.5(CEBPA):c.900C>G (p.Arg300=)
|
rs369123206
|
0.00001
|
NM_004364.5(CEBPA):c.913C>A (p.Gln305Lys)
|
rs747606716
|
0.00001
|
NM_004364.5(CEBPA):c.966C>T (p.Asp322=)
|
rs903305652
|
0.00001
|
NM_004364.5(CEBPA):c.983T>G (p.Val328Gly)
|
rs1422138876
|
0.00001
|
NM_004752.4(GCM2):c.116G>A (p.Arg39Gln)
|
rs534895356
|
0.00001
|
NM_004752.4(GCM2):c.1504A>C (p.Asn502His)
|
rs533942394
|
0.00001
|
NM_004985.5(KRAS):c.34G>A (p.Gly12Ser)
|
rs121913530
|
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_005154.5(USP8):c.2108C>A (p.Pro703His)
|
rs766783893
|
0.00001
|
NM_005188.4(CBL):c.1028G>A (p.Arg343Gln)
|
rs759585425
|
0.00001
|
NM_005188.4(CBL):c.1111T>C (p.Tyr371His)
|
rs267606706
|
0.00001
|
NM_005188.4(CBL):c.1227+5G>A
|
rs756550704
|
0.00001
|
NM_005188.4(CBL):c.1282C>T (p.Pro428Ser)
|
rs762677807
|
0.00001
|
NM_005188.4(CBL):c.1324C>A (p.Leu442Met)
|
rs200508558
|
0.00001
|
NM_005188.4(CBL):c.1455C>G (p.Phe485Leu)
|
rs369547447
|
0.00001
|
NM_005188.4(CBL):c.202C>T (p.Arg68Trp)
|
rs730880429
|
0.00001
|
NM_005188.4(CBL):c.2055A>G (p.Lys685=)
|
rs1454595224
|
0.00001
|
NM_005188.4(CBL):c.2086G>A (p.Glu696Lys)
|
rs539217274
|
0.00001
|
NM_005188.4(CBL):c.2401G>T (p.Gly801Cys)
|
rs1465141746
|
0.00001
|
NM_005188.4(CBL):c.2530A>C (p.Ser844Arg)
|
rs587778159
|
0.00001
|
NM_005188.4(CBL):c.2584G>A (p.Glu862Lys)
|
rs397507498
|
0.00001
|
NM_005188.4(CBL):c.572G>C (p.Arg191Thr)
|
rs756736832
|
0.00001
|
NM_005188.4(CBL):c.93C>A (p.Asp31Glu)
|
rs376679438
|
0.00001
|
NM_005373.3(MPL):c.1042C>T (p.Gln348Ter)
|
rs1355966040
|
0.00001
|
NM_005373.3(MPL):c.1053C>T (p.Arg351=)
|
rs753608517
|
0.00001
|
NM_005373.3(MPL):c.1069C>T (p.Arg357Ter)
|
rs751975712
|
0.00001
|
NM_005373.3(MPL):c.1119T>C (p.Gly373=)
|
rs748581599
|
0.00001
|
NM_005373.3(MPL):c.1140C>G (p.Gly380=)
|
rs745697567
|
0.00001
|
NM_005373.3(MPL):c.1165+10T>C
|
rs1392500587
|
0.00001
|
NM_005373.3(MPL):c.1165+8C>A
|
rs760520500
|
0.00001
|
NM_005373.3(MPL):c.1166-4G>A
|
rs753315546
|
0.00001
|
NM_005373.3(MPL):c.1169G>A (p.Arg390His)
|
rs1298113648
|
0.00001
|
NM_005373.3(MPL):c.1178C>T (p.Thr393Ile)
|
rs779132175
|
0.00001
|
NM_005373.3(MPL):c.1183A>G (p.Asn395Asp)
|
rs938821234
|
0.00001
|
NM_005373.3(MPL):c.1242G>A (p.Ser414=)
|
rs544064034
|
0.00001
|
NM_005373.3(MPL):c.1276C>T (p.Arg426Ter)
|
rs753018650
|
0.00001
|
NM_005373.3(MPL):c.1309-1G>T
|
rs1243113655
|
0.00001
|
NM_005373.3(MPL):c.1331C>A (p.Ala444Asp)
|
rs886046351
|
0.00001
|
NM_005373.3(MPL):c.1337G>A (p.Gly446Glu)
|
rs561724539
|
0.00001
|
NM_005373.3(MPL):c.1353G>A (p.Leu451=)
|
rs1218597246
|
0.00001
|
NM_005373.3(MPL):c.1367G>C (p.Arg456Pro)
|
rs1207248925
|
0.00001
|
NM_005373.3(MPL):c.1431G>A (p.Trp477Ter)
|
rs1169744090
|
0.00001
|
NM_005373.3(MPL):c.1442C>G (p.Thr481Ser)
|
rs1018549208
|
0.00001
|
NM_005373.3(MPL):c.1443T>C (p.Thr481=)
|
rs769867816
|
0.00001
|
NM_005373.3(MPL):c.1455C>A (p.Thr485=)
|
rs1420201893
|
0.00001
|
NM_005373.3(MPL):c.1463A>G (p.Glu488Gly)
|
rs1328988667
|
0.00001
|
NM_005373.3(MPL):c.1468+8A>G
|
rs1221843249
|
0.00001
|
NM_005373.3(MPL):c.1469-10T>C
|
rs756761741
|
0.00001
|
NM_005373.3(MPL):c.1544G>T (p.Trp515Leu)
|
rs121913615
|
0.00001
|
NM_005373.3(MPL):c.1554T>G (p.Pro518=)
|
rs756010427
|
0.00001
|
NM_005373.3(MPL):c.1566-1G>A
|
rs1570474015
|
0.00001
|
NM_005373.3(MPL):c.1566-8T>C
|
rs1037232039
|
0.00001
|
NM_005373.3(MPL):c.1605G>T (p.Leu535=)
|
rs371286903
|
0.00001
|
NM_005373.3(MPL):c.1704T>C (p.Leu568=)
|
rs1428589548
|
0.00001
|
NM_005373.3(MPL):c.1731G>A (p.Arg577=)
|
rs1297298234
|
0.00001
|
NM_005373.3(MPL):c.174G>A (p.Ala58=)
|
rs141077413
|
0.00001
|
NM_005373.3(MPL):c.1773C>T (p.Tyr591=)
|
rs752177268
|
0.00001
|
NM_005373.3(MPL):c.1774C>T (p.Arg592Ter)
|
rs755447085
|
0.00001
|
NM_005373.3(MPL):c.231C>T (p.Cys77=)
|
rs747378368
|
0.00001
|
NM_005373.3(MPL):c.237G>C (p.Leu79=)
|
rs769101640
|
0.00001
|
NM_005373.3(MPL):c.273C>T (p.Tyr91=)
|
rs759361904
|
0.00001
|
NM_005373.3(MPL):c.311T>C (p.Phe104Ser)
|
rs1196161699
|
0.00001
|
NM_005373.3(MPL):c.391+7G>A
|
rs201738900
|
0.00001
|
NM_005373.3(MPL):c.464A>T (p.Glu155Val)
|
rs780341646
|
0.00001
|
NM_005373.3(MPL):c.468G>A (p.Glu156=)
|
rs747175671
|
0.00001
|
NM_005373.3(MPL):c.513T>C (p.Tyr171=)
|
rs971985422
|
0.00001
|
NM_005373.3(MPL):c.519C>T (p.Pro173=)
|
rs1384608430
|
0.00001
|
NM_005373.3(MPL):c.534C>T (p.Asn178=)
|
rs1473089822
|
0.00001
|
NM_005373.3(MPL):c.578G>A (p.Cys193Tyr)
|
rs1313333589
|
0.00001
|
NM_005373.3(MPL):c.605dup (p.Ala203fs)
|
rs1441276119
|
0.00001
|
NM_005373.3(MPL):c.618G>C (p.Leu206=)
|
rs1334230054
|
0.00001
|
NM_005373.3(MPL):c.750C>T (p.Asn250=)
|
rs753703546
|
0.00001
|
NM_005373.3(MPL):c.795C>T (p.Leu265=)
|
rs774771300
|
0.00001
|
NM_005373.3(MPL):c.809G>A (p.Gly270Glu)
|
rs1361284210
|
0.00001
|
NM_005373.3(MPL):c.840G>A (p.Leu280=)
|
rs1313119276
|
0.00001
|
NM_005373.3(MPL):c.853+10C>A
|
rs1341584081
|
0.00001
|
NM_005373.3(MPL):c.854-10T>C
|
rs771241328
|
0.00001
|
NM_005373.3(MPL):c.936A>G (p.Gln312=)
|
rs1647022428
|
0.00001
|
NM_005373.3(MPL):c.972C>T (p.Pro324=)
|
rs1010774862
|
0.00001
|
NM_005373.3(MPL):c.981-1G>C
|
rs769297582
|
0.00001
|
NM_005373.3(MPL):c.984C>T (p.Tyr328=)
|
rs1174825503
|
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_006758.3(U2AF1):c.101C>A (p.Ser34Tyr)
|
rs371769427
|
0.00001
|
NM_007194.4(CHEK2):c.1024G>A (p.Gly342Ser)
|
rs730881705
|
0.00001
|
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys)
|
rs201206424
|
0.00001
|
NM_007194.4(CHEK2):c.1096-6T>G
|
rs1180195480
|
0.00001
|
NM_007194.4(CHEK2):c.1178C>T (p.Pro393Leu)
|
rs730881690
|
0.00001
|
NM_007194.4(CHEK2):c.1376-13A>G
|
rs1064793330
|
0.00001
|
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys)
|
rs540635787
|
0.00001
|
NM_007194.4(CHEK2):c.1534C>G (p.Leu512Val)
|
rs17882942
|
0.00001
|
NM_007194.4(CHEK2):c.170C>T (p.Ser57Phe)
|
rs730881695
|
0.00001
|
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter)
|
rs730881701
|
0.00001
|
NM_007194.4(CHEK2):c.434G>A (p.Arg145Gln)
|
rs587781667
|
0.00001
|
NM_007194.4(CHEK2):c.436A>C (p.Ile146Leu)
|
rs781678896
|
0.00001
|
NM_007194.4(CHEK2):c.565A>G (p.Ile189Val)
|
rs587780185
|
0.00001
|
NM_007194.4(CHEK2):c.906A>C (p.Glu302Asp)
|
rs587780190
|
0.00001
|
NM_015922.3(NSDHL):c.265C>G (p.Gln89Glu)
|
rs145580873
|
0.00001
|
NM_015922.3(NSDHL):c.612C>T (p.Phe204=)
|
rs782252634
|
0.00001
|
NM_016222.4(DDX41):c.931C>T (p.Arg311Ter)
|
rs899399494
|
0.00001
|
NM_022124.6(CDH23):c.1305G>C (p.Glu435Asp)
|
rs770510708
|
0.00001
|
NM_022124.6(CDH23):c.1339A>G (p.Lys447Glu)
|
rs767345324
|
0.00001
|
NM_022124.6(CDH23):c.1607G>A (p.Arg536Gln)
|
rs376414013
|
0.00001
|
NM_022124.6(CDH23):c.1752+1G>A
|
rs1347367555
|
0.00001
|
NM_022124.6(CDH23):c.1874G>A (p.Arg625His)
|
rs200907423
|
0.00001
|
NM_022124.6(CDH23):c.1886A>T (p.Tyr629Phe)
|
rs1297047638
|
0.00001
|
NM_022124.6(CDH23):c.2122T>G (p.Ser708Ala)
|
rs764332602
|
0.00001
|
NM_022124.6(CDH23):c.2189C>T (p.Thr730Ile)
|
rs755812129
|
0.00001
|
NM_022124.6(CDH23):c.2289+1G>A
|
rs769433759
|
0.00001
|
NM_022124.6(CDH23):c.2767G>A (p.Gly923Ser)
|
rs560251790
|
0.00001
|
NM_022124.6(CDH23):c.2870G>A (p.Arg957His)
|
rs748047907
|
0.00001
|
NM_022124.6(CDH23):c.2968G>A (p.Asp990Asn)
|
rs771766431
|
0.00001
|
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys)
|
rs745571683
|
0.00001
|
NM_022124.6(CDH23):c.3593T>C (p.Val1198Ala)
|
rs759990271
|
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.5852A>T (p.Asp1951Val)
|
rs1299758893
|
0.00001
|
NM_022124.6(CDH23):c.5945A>G (p.Asn1982Ser)
|
rs555432123
|
0.00001
|
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser)
|
rs183431253
|
0.00001
|
NM_022124.6(CDH23):c.6319C>T (p.Arg2107Ter)
|
rs1306728898
|
0.00001
|
NM_022124.6(CDH23):c.6323T>C (p.Ile2108Thr)
|
rs1198525214
|
0.00001
|
NM_022124.6(CDH23):c.6344G>A (p.Arg2115His)
|
rs1270566026
|
0.00001
|
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu)
|
rs397517349
|
0.00001
|
NM_022124.6(CDH23):c.6696del (p.Ala2232_Val2233insTer)
|
rs1278603247
|
0.00001
|
NM_022124.6(CDH23):c.6829+3A>G
|
rs780258798
|
0.00001
|
NM_022124.6(CDH23):c.7145G>A (p.Arg2382Gln)
|
rs759439688
|
0.00001
|
NM_022124.6(CDH23):c.719C>T (p.Pro240Leu)
|
rs121908354
|
0.00001
|
NM_022124.6(CDH23):c.7362+5G>A
|
rs727502931
|
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_022124.6(CDH23):c.8803C>T (p.Arg2935Ter)
|
rs1190307769
|
0.00001
|
NM_022124.6(CDH23):c.8957T>C (p.Ile2986Thr)
|
rs753997469
|
0.00001
|
NM_022124.6(CDH23):c.902G>A (p.Arg301Gln)
|
rs121908355
|
0.00001
|
NM_022124.6(CDH23):c.9886G>A (p.Asp3296Asn)
|
rs372388344
|
0.00001
|
NM_022455.5(NSD1):c.3352G>A (p.Asp1118Asn)
|
rs1348023231
|
0.00001
|
NM_022552.5(DNMT3A):c.120G>A (p.Glu40=)
|
rs202118149
|
0.00001
|
NM_024529.4(CDC73):c.-186C>G
|
rs886045710
|
0.00001
|
NM_024529.5(CDC73):c.*1292C>T
|
rs895043816
|
0.00001
|
NM_024529.5(CDC73):c.*1535A>G
|
rs1011765527
|
0.00001
|
NM_024529.5(CDC73):c.*1660A>G
|
rs1310867519
|
0.00001
|
NM_024529.5(CDC73):c.*2651T>G
|
rs886045730
|
0.00001
|
NM_024529.5(CDC73):c.*298A>T
|
rs1678035186
|
0.00001
|
NM_024529.5(CDC73):c.*3063G>A
|
rs182545034
|
0.00001
|
NM_024529.5(CDC73):c.*3714T>C
|
rs886045737
|
0.00001
|
NM_024529.5(CDC73):c.*3783C>T
|
rs1337028451
|
0.00001
|
NM_024529.5(CDC73):c.*3785A>G
|
rs886045738
|
0.00001
|
NM_024529.5(CDC73):c.*3875A>G
|
rs1678100975
|
0.00001
|
NM_024529.5(CDC73):c.*972A>G
|
rs886045717
|
0.00001
|
NM_024529.5(CDC73):c.-121G>A
|
rs886045711
|
0.00001
|
NM_024529.5(CDC73):c.-135C>T
|
rs1675456932
|
0.00001
|
NM_024529.5(CDC73):c.-167A>G
|
rs1156904196
|
0.00001
|
NM_024529.5(CDC73):c.1011C>T (p.Ala337=)
|
rs372567546
|
0.00001
|
NM_024529.5(CDC73):c.1066+5G>A
|
rs1018448425
|
0.00001
|
NM_024529.5(CDC73):c.1081A>G (p.Ile361Val)
|
rs776519655
|
0.00001
|
NM_024529.5(CDC73):c.1137C>G (p.Asp379Glu)
|
rs774536123
|
0.00001
|
NM_024529.5(CDC73):c.1248C>T (p.Gly416=)
|
rs780906083
|
0.00001
|
NM_024529.5(CDC73):c.138A>T (p.Gly46=)
|
rs1572142522
|
0.00001
|
NM_024529.5(CDC73):c.1421A>G (p.Lys474Arg)
|
rs1678015324
|
0.00001
|
NM_024529.5(CDC73):c.1538G>A (p.Arg513Gln)
|
rs1465509067
|
0.00001
|
NM_024529.5(CDC73):c.1551A>G (p.Thr517=)
|
rs752668844
|
0.00001
|
NM_024529.5(CDC73):c.1559+20A>G
|
rs1281829953
|
0.00001
|
NM_024529.5(CDC73):c.1575T>G (p.His525Gln)
|
rs1378278674
|
0.00001
|
NM_024529.5(CDC73):c.280C>T (p.Leu94=)
|
rs747811573
|
0.00001
|
NM_024529.5(CDC73):c.315G>A (p.Ser105=)
|
rs771258964
|
0.00001
|
NM_024529.5(CDC73):c.364A>G (p.Thr122Ala)
|
rs763095800
|
0.00001
|
NM_024529.5(CDC73):c.370+17A>G
|
rs760583012
|
0.00001
|
NM_024529.5(CDC73):c.519G>A (p.Leu173=)
|
rs749039338
|
0.00001
|
NM_024529.5(CDC73):c.534A>G (p.Ser178=)
|
rs150365980
|
0.00001
|
NM_024529.5(CDC73):c.730-14C>G
|
rs183077646
|
0.00001
|
NM_024529.5(CDC73):c.754A>G (p.Ile252Val)
|
rs374290883
|
0.00001
|
NM_024529.5(CDC73):c.787C>T (p.Arg263Cys)
|
rs878855091
|
0.00001
|
NM_024529.5(CDC73):c.823C>T (p.Pro275Ser)
|
rs758391256
|
0.00001
|
NM_024529.5(CDC73):c.842G>A (p.Arg281His)
|
rs762716583
|
0.00001
|
NM_024529.5(CDC73):c.973-23487G>A
|
rs765816443
|
0.00001
|
NM_024675.4(PALB2):c.3103A>G (p.Ile1035Val)
|
rs863224783
|
0.00001
|
NM_024675.4(PALB2):c.3494C>T (p.Ser1165Leu)
|
rs773829275
|
0.00001
|
NM_032638.5(GATA2):c.1020G>A (p.Ser340=)
|
rs370166358
|
0.00001
|
NM_032638.5(GATA2):c.1024G>A (p.Ala342Thr)
|
rs751285156
|
0.00001
|
NM_032638.5(GATA2):c.1081C>T (p.Arg361Cys)
|
rs1426175410
|
0.00001
|
NM_032638.5(GATA2):c.1232C>T (p.Ala411Val)
|
rs374457534
|
0.00001
|
NM_032638.5(GATA2):c.1348G>A (p.Gly450Arg)
|
rs370164300
|
0.00001
|
NM_032638.5(GATA2):c.1402G>A (p.Gly468Ser)
|
rs777726701
|
0.00001
|
NM_032638.5(GATA2):c.182C>T (p.Ala61Val)
|
rs375349195
|
0.00001
|
NM_032638.5(GATA2):c.208G>T (p.Val70Phe)
|
rs570531959
|
0.00001
|
NM_032638.5(GATA2):c.442A>G (p.Ser148Gly)
|
rs1161655427
|
0.00001
|
NM_032638.5(GATA2):c.502T>G (p.Ser168Ala)
|
rs377261969
|
0.00001
|
NM_032638.5(GATA2):c.571G>A (p.Ala191Thr)
|
rs1355811506
|
0.00001
|
NM_032638.5(GATA2):c.593C>T (p.Ala198Val)
|
rs745726293
|
0.00001
|
NM_032638.5(GATA2):c.682C>A (p.Pro228Thr)
|
rs375298899
|
0.00001
|
NM_032638.5(GATA2):c.856G>A (p.Ala286Thr)
|
rs1443864030
|
0.00001
|
NM_033360.4(KRAS):c.112-5C>T
|
rs376520586
|
0.00001
|
NM_058172.6(ANTXR2):c.*1136C>T
|
rs1026788796
|
0.00001
|
NM_058172.6(ANTXR2):c.*130A>G
|
rs1444860170
|
0.00001
|
NM_058172.6(ANTXR2):c.*2429G>A
|
rs995476496
|
0.00001
|
NM_058172.6(ANTXR2):c.*245A>G
|
rs1486948818
|
0.00001
|
NM_058172.6(ANTXR2):c.*263C>T
|
rs1726947408
|
0.00001
|
NM_058172.6(ANTXR2):c.*2839G>T
|
rs760081751
|
0.00001
|
NM_058172.6(ANTXR2):c.*2888G>A
|
rs1390353083
|
0.00001
|
NM_058172.6(ANTXR2):c.*3544A>G
|
rs1437810034
|
0.00001
|
NM_058172.6(ANTXR2):c.*3597T>G
|
rs888487534
|
0.00001
|
NM_058172.6(ANTXR2):c.*4201A>G
|
rs952978226
|
0.00001
|
NM_058172.6(ANTXR2):c.*4462A>G
|
rs974485555
|
0.00001
|
NM_058172.6(ANTXR2):c.*4504C>T
|
rs1726763836
|
0.00001
|
NM_058172.6(ANTXR2):c.*4917G>A
|
rs1340353111
|
0.00001
|
NM_058172.6(ANTXR2):c.*5425G>A
|
rs568935269
|
0.00001
|
NM_058172.6(ANTXR2):c.*752C>G
|
rs1302997320
|
0.00001
|
NM_058172.6(ANTXR2):c.-5G>A
|
rs765908500
|
0.00001
|
NM_058172.6(ANTXR2):c.1309C>T (p.His437Tyr)
|
rs1445493382
|
0.00001
|
NM_058172.6(ANTXR2):c.1349G>A (p.Gly450Asp)
|
rs369528902
|
0.00001
|
NM_058172.6(ANTXR2):c.233T>C (p.Met78Thr)
|
rs886059658
|
0.00001
|
NM_058172.6(ANTXR2):c.98C>T (p.Ala33Val)
|
rs756775841
|
0.00001
|
NM_080425.4(GNAS):c.1200C>A (p.Ala400=)
|
rs908810796
|
0.00001
|
NM_080425.4(GNAS):c.1323C>T (p.Pro441=)
|
rs146744182
|
0.00001
|
NM_080425.4(GNAS):c.98C>A (p.Ala33Asp)
|
rs746548577
|
0.00001
|
NM_198253.3(TERT):c.1331A>G (p.Asp444Gly)
|
rs878855299
|
0.00001
|
NM_198253.3(TERT):c.1954G>A (p.Glu652Lys)
|
rs1228165704
|
0.00001
|
NM_198253.3(TERT):c.3303G>A (p.Thr1101=)
|
rs551516320
|
0.00001
|
NM_198253.3(TERT):c.375C>T (p.Asn125=)
|
rs1751256209
|
0.00001
|
NM_198253.3(TERT):c.508G>A (p.Val170Met)
|
rs387907248
|
0.00001
|
NM_198253.3(TERT):c.729C>T (p.Ala243=)
|
rs762491880
|
0.00001
|
NM_198253.3(TERT):c.895G>A (p.Val299Met)
|
rs756624928
|
0.00001
|
NM_207122.2(EXT2):c.*3C>T
|
rs542907948
|
0.00001
|
NM_207122.2(EXT2):c.*862T>G
|
rs192098481
|
0.00001
|
NM_207122.2(EXT2):c.*93G>A
|
rs886048278
|
0.00001
|
NM_207122.2(EXT2):c.-30-10T>A
|
rs371744028
|
0.00001
|
NM_207122.2(EXT2):c.-31+453A>G
|
rs1032612888
|
0.00001
|
NM_207122.2(EXT2):c.1003T>C (p.Leu335=)
|
rs766467969
|
0.00001
|
NM_207122.2(EXT2):c.1019T>A (p.Val340Asp)
|
rs371996957
|
0.00001
|
NM_207122.2(EXT2):c.1123A>G (p.Ser375Gly)
|
rs369029338
|
0.00001
|
NM_207122.2(EXT2):c.1126A>G (p.Ile376Val)
|
rs1465688101
|
0.00001
|
NM_207122.2(EXT2):c.1173+18G>A
|
rs760436963
|
0.00001
|
NM_207122.2(EXT2):c.1180T>G (p.Trp394Gly)
|
rs769052712
|
0.00001
|
NM_207122.2(EXT2):c.1208T>C (p.Ile403Thr)
|
rs530523884
|
0.00001
|
NM_207122.2(EXT2):c.1226C>T (p.Ala409Val)
|
rs1279920600
|
0.00001
|
NM_207122.2(EXT2):c.1231C>T (p.Leu411=)
|
rs914948841
|
0.00001
|
NM_207122.2(EXT2):c.1259C>T (p.Pro420Leu)
|
rs747153343
|
0.00001
|
NM_207122.2(EXT2):c.1270A>G (p.Ile424Val)
|
rs1473876438
|
0.00001
|
NM_207122.2(EXT2):c.1287G>T (p.Trp429Cys)
|
rs1403873034
|
0.00001
|
NM_207122.2(EXT2):c.1305+12C>G
|
rs767006996
|
0.00001
|
NM_207122.2(EXT2):c.1305+2T>C
|
rs202153611
|
0.00001
|
NM_207122.2(EXT2):c.1319T>A (p.Val440Glu)
|
rs1053473840
|
0.00001
|
NM_207122.2(EXT2):c.1354C>G (p.Gln452Glu)
|
rs1955475218
|
0.00001
|
NM_207122.2(EXT2):c.1375A>G (p.Ile459Val)
|
rs779292816
|
0.00001
|
NM_207122.2(EXT2):c.1409T>C (p.Phe470Ser)
|
rs1360036719
|
0.00001
|
NM_207122.2(EXT2):c.1484A>G (p.Asn495Ser)
|
rs1590640131
|
0.00001
|
NM_207122.2(EXT2):c.1515C>G (p.Ile505Met)
|
rs145279140
|
0.00001
|
NM_207122.2(EXT2):c.1516C>T (p.Arg506Trp)
|
rs750549318
|
0.00001
|
NM_207122.2(EXT2):c.1518G>T (p.Arg506=)
|
rs747230848
|
0.00001
|
NM_207122.2(EXT2):c.151G>A (p.Glu51Lys)
|
rs763384036
|
0.00001
|
NM_207122.2(EXT2):c.1575T>G (p.Pro525=)
|
rs372914384
|
0.00001
|
NM_207122.2(EXT2):c.1610T>C (p.Ile537Thr)
|
rs766600182
|
0.00001
|
NM_207122.2(EXT2):c.1712A>G (p.His571Arg)
|
rs150392363
|
0.00001
|
NM_207122.2(EXT2):c.1824T>A (p.Tyr608Ter)
|
rs781083252
|
0.00001
|
NM_207122.2(EXT2):c.1921A>C (p.Lys641Gln)
|
rs773705067
|
0.00001
|
NM_207122.2(EXT2):c.1974A>G (p.Thr658=)
|
rs1319948823
|
0.00001
|
NM_207122.2(EXT2):c.2041G>C (p.Ala681Pro)
|
rs771936445
|
0.00001
|
NM_207122.2(EXT2):c.211C>T (p.Leu71=)
|
rs766800368
|
0.00001
|
NM_207122.2(EXT2):c.2136C>T (p.Phe712=)
|
rs575302404
|
0.00001
|
NM_207122.2(EXT2):c.219C>T (p.Ala73=)
|
rs774620075
|
0.00001
|
NM_207122.2(EXT2):c.238C>T (p.Arg80Trp)
|
rs755625888
|
0.00001
|
NM_207122.2(EXT2):c.246T>C (p.Asp82=)
|
rs559280035
|
0.00001
|
NM_207122.2(EXT2):c.252T>C (p.Ser84=)
|
rs1463030663
|
0.00001
|
NM_207122.2(EXT2):c.266C>T (p.Thr89Met)
|
rs143048174
|
0.00001
|
NM_207122.2(EXT2):c.267G>A (p.Thr89=)
|
rs1386417457
|
0.00001
|
NM_207122.2(EXT2):c.296A>T (p.Asn99Ile)
|
rs147587178
|
0.00001
|
NM_207122.2(EXT2):c.408C>T (p.Ala136=)
|
rs777178095
|
0.00001
|
NM_207122.2(EXT2):c.415G>A (p.Asp139Asn)
|
rs1038984851
|
0.00001
|
NM_207122.2(EXT2):c.502A>G (p.Lys168Glu)
|
rs762533540
|
0.00001
|
NM_207122.2(EXT2):c.511G>A (p.Ala171Thr)
|
rs1326355711
|
0.00001
|
NM_207122.2(EXT2):c.537-19A>G
|
rs764148237
|
0.00001
|
NM_207122.2(EXT2):c.640G>A (p.Gly214Ser)
|
rs550761834
|
0.00001
|
NM_207122.2(EXT2):c.646G>A (p.Gly216Ser)
|
rs1208541215
|
0.00001
|
NM_207122.2(EXT2):c.656C>T (p.Thr219Met)
|
rs202208526
|
0.00001
|
NM_207122.2(EXT2):c.667C>T (p.Arg223Trp)
|
rs201062014
|
0.00001
|
NM_207122.2(EXT2):c.678C>T (p.Tyr226=)
|
rs1406801697
|
0.00001
|
NM_207122.2(EXT2):c.67C>T (p.Arg23Ter)
|
rs754533434
|
0.00001
|
NM_207122.2(EXT2):c.744-11T>A
|
rs754484381
|
0.00001
|
NM_207122.2(EXT2):c.753A>G (p.Gln251=)
|
rs1310756667
|
0.00001
|
NM_207122.2(EXT2):c.860C>A (p.Thr287Asn)
|
rs886048275
|
0.00001
|
NM_207122.2(EXT2):c.863A>G (p.Asn288Ser)
|
rs745738318
|
0.00001
|
NM_207122.2(EXT2):c.895C>T (p.Arg299Cys)
|
rs375468766
|
0.00001
|
NM_207122.2(EXT2):c.936A>G (p.Leu312=)
|
rs760218623
|
0.00001
|
NM_207122.2(EXT2):c.940-9T>C
|
rs374555467
|
0.00001
|
NM_207122.2(EXT2):c.974G>A (p.Arg325Gln)
|
rs762292898
|
0.00001
|
NM_207122.2(EXT2):c.997G>A (p.Asp333Asn)
|
rs1182974716
|
0.00001
|
NM_207122.2(EXT2):c.9G>A (p.Ala3=)
|
rs774142487
|
0.00001
|
ARHGAP26, 52-BP INS
|
|
|
ARHGAP26, 74-BP INS
|
|
|
CDC73, 41-BP DUP/INS
|
|
|
FLT3, INTERNAL TANDEM DUP
|
|
|
GRCh37/hg19 8q24.11(chr8:118825108-119054752)x3
|
|
|
GRCh37/hg19 8q24.11-24.13(chr8:118185471-126635744)x1
|
|
|
MN1-ETV6 fusion
|
|
|
NC_000001.10:g.(?_43800988)_(43803797_?)del
|
|
|
NC_000001.10:g.(?_43803510)_(43806194_?)del
|
|
|
NC_000001.10:g.(?_43812096)_(43818443_?)dup
|
|
|
NC_000001.11:g.(?_43349253)_(43349369_?)del
|
|
|
NC_000008.10:g.(?_117647788)_(120797526_?)dup
|
|
|
NC_000008.10:g.(?_118803587)_(118819524_?)del
|
|
|
NC_000008.10:g.(?_118811951)_(118812156_?)del
|
|
|
NC_000008.10:g.(?_118811951)_(118834836_?)del
|
|
|
NC_000008.10:g.(?_118811951)_(118849460_?)del
|
|
|
NC_000008.10:g.(?_118816941)_(118817152_?)del
|
|
|
NC_000008.10:g.(?_118819436)_(118825220_?)del
|
|
|
NC_000008.10:g.(?_118819436)_(118847810_?)del
|
|
|
NC_000008.10:g.(?_118819446)_(119123285_?)dup
|
|
|
NC_000008.10:g.(?_118825091)_(118825220_?)del
|
|
|
NC_000008.10:g.(?_118825208)_119035925del
|
|
|
NC_000008.10:g.(?_118830654)_(118849460_?)del
|
|
|
NC_000008.10:g.(?_118831895)_(118834856_?)del
|
|
|
NC_000008.10:g.(?_118842449)_(118842608_?)del
|
|
|
NC_000008.10:g.(?_118847663)_(118849460_?)del
|
|
|
NC_000008.10:g.(?_119122304)_(119123285_?)del
|
|
|
NC_000008.11:g.(?_117799692)_(117799917_?)del
|
|
|
NC_000008.11:g.(?_117799692)_(118111066_?)del
|
|
|
NC_000008.11:g.(?_117807197)_(117807397_?)del
|
|
|
NC_000008.11:g.(?_117812852)_(117837221_?)dup
|
|
|
NC_000008.11:g.(?_117830210)_(117837221_?)del
|
|
|
NC_000008.11:g.(?_118110065)_(118111066_?)del
|
|
|
NC_000008.11:g.(?_118110065)_(118111066_?)dup
|
|
|
NC_000009.12:g.21931006A>G
|
rs2131048008
|
|
NC_000009.12:g.21931079A>G
|
rs2131048129
|
|
NC_000011.10:g.(?_44096233)_(44130158_?)del
|
|
|
NC_000011.10:g.(?_44096233)_(44244388_?)del
|
|
|
NC_000011.10:g.(?_44107663)_(44108268_?)del
|
|
|
NC_000011.10:g.(?_44107663)_(44130158_?)del
|
|
|
NC_000011.10:g.(?_44124769)_(44126975_?)del
|
|
|
NC_000011.10:g.(?_44144227)_(44198038_?)del
|
|
|
NC_000011.10:g.(?_44171591)_(44171762_?)del
|
|
|
NC_000011.10:g.(?_44171591)_(44206979_?)del
|
|
|
NC_000011.10:g.(?_44206773)_(44206979_?)del
|
|
|
NC_000011.10:g.(?_44206793)_(44206959_?)del
|
|
|
NC_000011.10:g.44109194del
|
|
|
NC_000011.9:g.(?_44129235)_(44129808_?)del
|
|
|
NC_000011.9:g.(?_44129235)_(44151698_?)del
|
|
|
NC_000011.9:g.(?_44219359)_(44228529_?)del
|
|
|
NC_000014.9:g.95696766_96390792dup
|
|
|
NC_000019.9:g.(?_33532300)_(33793320_?)dup
|
|
|
NC_000019.9:g.(?_33792234)_(33793330_?)dup
|
|
|
NC_012920.1:m.14372C>A
|
rs1556424431
|
|
NF1, IVS34, G-A, +18
|
|
|
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer)
|
rs587779352
|
|
NM_000059.4(BRCA2):c.2141A>C (p.Glu714Ala)
|
rs2137483648
|
|
NM_000059.4(BRCA2):c.2143G>T (p.Gly715Ter)
|
rs1007336407
|
|
NM_000059.4(BRCA2):c.3599_3600del (p.Asp1199_Cys1200insTer)
|
rs80359391
|
|
NM_000059.4(BRCA2):c.6902A>G (p.Glu2301Gly)
|
rs2137537213
|
|
NM_000077.5(CDKN2A):c.50C>G (p.Ala17Gly)
|
|
|
NM_000121.4(EPOR):c.1316G>A (p.Trp439Ter)
|
rs121917830
|
|
NM_000127.2(EXT1):c.1418del
|
rs1811893467
|
|
NM_000127.3(EXT1):c.*146G>C
|
rs886062634
|
|
NM_000127.3(EXT1):c.*82C>G
|
rs886062635
|
|
NM_000127.3(EXT1):c.-129A>G
|
rs886062637
|
|
NM_000127.3(EXT1):c.-139A>G
|
rs886062638
|
|
NM_000127.3(EXT1):c.-16G>A
|
rs1817895495
|
|
NM_000127.3(EXT1):c.-612G>A
|
rs886062640
|
|
NM_000127.3(EXT1):c.1000T>C (p.Cys334Arg)
|
rs1587004341
|
|
NM_000127.3(EXT1):c.1010C>G (p.Pro337Arg)
|
rs1812200901
|
|
NM_000127.3(EXT1):c.1013G>A (p.Arg338His)
|
rs1288618931
|
|
NM_000127.3(EXT1):c.1015G>A (p.Gly339Ser)
|
rs2129791225
|
|
NM_000127.3(EXT1):c.1016G>A (p.Gly339Asp)
|
rs119103288
|
|
NM_000127.3(EXT1):c.1016G>T (p.Gly339Val)
|
|
|
NM_000127.3(EXT1):c.1018C>G (p.Arg340Gly)
|
rs119103290
|
|
NM_000127.3(EXT1):c.1018C>T (p.Arg340Cys)
|
rs119103290
|
|
NM_000127.3(EXT1):c.1019G>A (p.Arg340His)
|
rs119103287
|
|
NM_000127.3(EXT1):c.1019G>T (p.Arg340Leu)
|
rs119103287
|
|
NM_000127.3(EXT1):c.1021A>G (p.Arg341Gly)
|
rs1554580149
|
|
NM_000127.3(EXT1):c.1021A>T (p.Arg341Trp)
|
rs1554580149
|
|
NM_000127.3(EXT1):c.1027G>A (p.Gly343Arg)
|
rs978347552
|
|
NM_000127.3(EXT1):c.1028G>A (p.Gly343Glu)
|
rs1206600641
|
|
NM_000127.3(EXT1):c.1036A>G (p.Arg346Gly)
|
rs1554580147
|
|
NM_000127.3(EXT1):c.1037G>T (p.Arg346Ile)
|
rs1812200035
|
|
NM_000127.3(EXT1):c.1038A>C (p.Arg346Ser)
|
|
|
NM_000127.3(EXT1):c.1038A>G (p.Arg346=)
|
rs2129791072
|
|
NM_000127.3(EXT1):c.103del (p.Ser35fs)
|
rs1563659821
|
|
NM_000127.3(EXT1):c.1046_1047del (p.Glu349fs)
|
|
|
NM_000127.3(EXT1):c.1049_1056+1del
|
|
|
NM_000127.3(EXT1):c.1050T>G (p.Ala350=)
|
rs751521449
|
|
NM_000127.3(EXT1):c.1051T>G (p.Leu351Val)
|
|
|
NM_000127.3(EXT1):c.1052dup (p.Leu351fs)
|
rs2129790994
|
|
NM_000127.3(EXT1):c.1053_1056+1del
|
rs1563575654
|
|
NM_000127.3(EXT1):c.1056+1G>A
|
rs886039354
|
|
NM_000127.3(EXT1):c.1056+1G>T
|
rs886039354
|
|
NM_000127.3(EXT1):c.1056+2T>A
|
rs1554580142
|
|
NM_000127.3(EXT1):c.1056+3A>C
|
rs1554580140
|
|
NM_000127.3(EXT1):c.1056+4A>G
|
|
|
NM_000127.3(EXT1):c.1056G>T (p.Gln352His)
|
rs1812199676
|
|
NM_000127.3(EXT1):c.1057-12dup
|
rs775982542
|
|
NM_000127.3(EXT1):c.1057-1G>C
|
rs1587003661
|
|
NM_000127.3(EXT1):c.1057-2A>G
|
rs1587003662
|
|
NM_000127.3(EXT1):c.1057-2A>T
|
rs1587003662
|
|
NM_000127.3(EXT1):c.1057-3C>G
|
|
|
NM_000127.3(EXT1):c.1057-8T>C
|
|
|
NM_000127.3(EXT1):c.1063T>C (p.Cys355Arg)
|
rs1587003655
|
|
NM_000127.3(EXT1):c.1064G>A (p.Cys355Tyr)
|
rs2129786671
|
|
NM_000127.3(EXT1):c.1064_1065delinsAT (p.Cys355Tyr)
|
|
|
NM_000127.3(EXT1):c.1065C>A (p.Cys355Ter)
|
rs11546829
|
|
NM_000127.3(EXT1):c.1070C>G (p.Pro357Arg)
|
rs1131691337
|
|
NM_000127.3(EXT1):c.1073dup (p.Met359fs)
|
rs2129786583
|
|
NM_000127.3(EXT1):c.1076dup (p.Met359fs)
|
rs2129786574
|
|
NM_000127.3(EXT1):c.1091G>A (p.Trp364Ter)
|
|
|
NM_000127.3(EXT1):c.1091G>T (p.Trp364Leu)
|
|
|
NM_000127.3(EXT1):c.1093G>A (p.Glu365Lys)
|
|
|
NM_000127.3(EXT1):c.1101A>G (p.Pro367=)
|
|
|
NM_000127.3(EXT1):c.1108G>T (p.Glu370Ter)
|
rs1812174128
|
|
NM_000127.3(EXT1):c.111del (p.Glu38fs)
|
rs1586280235
|
|
NM_000127.3(EXT1):c.1122G>A (p.Trp374Ter)
|
rs2129786370
|
|
NM_000127.3(EXT1):c.1126C>T (p.Gln376Ter)
|
rs1812173838
|
|
NM_000127.3(EXT1):c.1126del (p.Gln376fs)
|
rs2129786342
|
|
NM_000127.3(EXT1):c.1129G>A (p.Ala377Thr)
|
rs1812173796
|
|
NM_000127.3(EXT1):c.112GAA[1] (p.Glu39del)
|
rs1782100732
|
|
NM_000127.3(EXT1):c.1134C>T (p.Ala378=)
|
|
|
NM_000127.3(EXT1):c.1137C>T (p.Val379=)
|
|
|
NM_000127.3(EXT1):c.1138A>G (p.Ile380Val)
|
rs747020325
|
|
NM_000127.3(EXT1):c.1144G>A (p.Asp382Asn)
|
|
|
NM_000127.3(EXT1):c.1151_1152del (p.Arg384fs)
|
rs1812173037
|
|
NM_000127.3(EXT1):c.1157T>G (p.Leu386Ter)
|
rs2129786157
|
|
NM_000127.3(EXT1):c.115G>T (p.Glu39Ter)
|
rs1817891356
|
|
NM_000127.3(EXT1):c.115del (p.Glu39fs)
|
rs1586280217
|
|
NM_000127.3(EXT1):c.1162C>T (p.Gln388Ter)
|
rs2129786122
|
|
NM_000127.3(EXT1):c.1164+15G>A
|
|
|
NM_000127.3(EXT1):c.1164+1G>A
|
rs2129786098
|
|
NM_000127.3(EXT1):c.1164+1G>T
|
|
|
NM_000127.3(EXT1):c.1164+3A>G
|
|
|
NM_000127.3(EXT1):c.1165-1G>C
|
|
|
NM_000127.3(EXT1):c.1165-2A>C
|
|
|
NM_000127.3(EXT1):c.1165-2A>G
|
|
|
NM_000127.3(EXT1):c.1165-3C>G
|
rs1812078461
|
|
NM_000127.3(EXT1):c.1165-4A>G
|
|
|
NM_000127.3(EXT1):c.1165-6T>G
|
rs1812078551
|
|
NM_000127.3(EXT1):c.1167del (p.Pro390fs)
|
rs1812078315
|
|
NM_000127.3(EXT1):c.1175C>T (p.Thr392Ile)
|
|
|
NM_000127.3(EXT1):c.1177A>G (p.Ile393Val)
|
|
|
NM_000127.3(EXT1):c.1180A>G (p.Arg394Gly)
|
|
|
NM_000127.3(EXT1):c.1184C>G (p.Ser395Cys)
|
|
|
NM_000127.3(EXT1):c.1186A>G (p.Ile396Val)
|
|
|
NM_000127.3(EXT1):c.1189C>A (p.His397Asn)
|
|
|
NM_000127.3(EXT1):c.1190A>G (p.His397Arg)
|
|
|
NM_000127.3(EXT1):c.1192C>T (p.Gln398Ter)
|
rs561006425
|
|
NM_000127.3(EXT1):c.1193del (p.Gln398fs)
|
rs2129772368
|
|
NM_000127.3(EXT1):c.1196A>T (p.Asp399Val)
|
|
|
NM_000127.3(EXT1):c.119A>G (p.His40Arg)
|
|
|
NM_000127.3(EXT1):c.1214G>C (p.Arg405Thr)
|
rs1812077443
|
|
NM_000127.3(EXT1):c.1215_1218del (p.Arg405fs)
|
rs1369118661
|
|
NM_000127.3(EXT1):c.1217del (p.Gln406fs)
|
rs2129772259
|
|
NM_000127.3(EXT1):c.1219C>T (p.Gln407Ter)
|
rs1812077342
|
|
NM_000127.3(EXT1):c.1220del (p.Gln407fs)
|
rs1812077295
|
|
NM_000127.3(EXT1):c.1225C>A (p.Gln409Lys)
|
rs755694640
|
|
NM_000127.3(EXT1):c.1225C>T (p.Gln409Ter)
|
|
|
NM_000127.3(EXT1):c.1231T>C (p.Leu411=)
|
|
|
NM_000127.3(EXT1):c.1234del (p.Trp412fs)
|
rs1812076996
|
|
NM_000127.3(EXT1):c.1235_1236delinsC (p.Trp412fs)
|
rs1812076915
|
|
NM_000127.3(EXT1):c.1236G>A (p.Trp412Ter)
|
rs1587001428
|
|
NM_000127.3(EXT1):c.1239G>A (p.Glu413=)
|
rs756701753
|
|
NM_000127.3(EXT1):c.1244A>G (p.Tyr415Cys)
|
|
|
NM_000127.3(EXT1):c.1249del (p.Ser417fs)
|
|
|
NM_000127.3(EXT1):c.124_962+1815del
|
|
|
NM_000127.3(EXT1):c.1263G>A (p.Lys421=)
|
rs2129772013
|
|
NM_000127.3(EXT1):c.1269A>G (p.Val423=)
|
|
|
NM_000127.3(EXT1):c.1271T>G (p.Leu424Ter)
|
|
|
NM_000127.3(EXT1):c.1280T>C (p.Leu427Pro)
|
rs1812075737
|
|
NM_000127.3(EXT1):c.1284+12del
|
|
|
NM_000127.3(EXT1):c.1284+20T>C
|
|
|
NM_000127.3(EXT1):c.1284+2dup
|
|
|
NM_000127.3(EXT1):c.1284+7G>A
|
|
|
NM_000127.3(EXT1):c.1285-1G>C
|
rs1811943967
|
|
NM_000127.3(EXT1):c.1285-1G>T
|
rs1811943967
|
|
NM_000127.3(EXT1):c.1285-6T>G
|
|
|
NM_000127.3(EXT1):c.1288A>T (p.Ile430Phe)
|
rs2129749685
|
|
NM_000127.3(EXT1):c.1290_1297del (p.Ile430fs)
|
rs2129749657
|
|
NM_000127.3(EXT1):c.1291C>T (p.Gln431Ter)
|
rs1811943921
|
|
NM_000127.3(EXT1):c.1296C>G (p.Asp432Glu)
|
|
|
NM_000127.3(EXT1):c.1296del (p.Asp432fs)
|
|
|
NM_000127.3(EXT1):c.1297A>C (p.Arg433=)
|
rs1037557280
|
|
NM_000127.3(EXT1):c.129G>T (p.Arg43Ser)
|
|
|
NM_000127.3(EXT1):c.129del (p.Asn44fs)
|
rs1817890492
|
|
NM_000127.3(EXT1):c.1303_1304dup (p.Lys436fs)
|
rs2129749620
|
|
NM_000127.3(EXT1):c.1307dup (p.His437fs)
|
|
|
NM_000127.3(EXT1):c.1309C>G (p.His437Asp)
|
|
|
NM_000127.3(EXT1):c.1312A>G (p.Ile438Val)
|
|
|
NM_000127.3(EXT1):c.1314A>G (p.Ile438Met)
|
|
|
NM_000127.3(EXT1):c.1315_1337dup (p.Asn446_Lys447insHisValThrValTer)
|
rs1563571296
|
|
NM_000127.3(EXT1):c.1316C>A (p.Ser439Ter)
|
rs1563571318
|
|
NM_000127.3(EXT1):c.1316C>G (p.Ser439Ter)
|
rs1563571318
|
|
NM_000127.3(EXT1):c.1317dup (p.Arg440fs)
|
|
|
NM_000127.3(EXT1):c.1318C>T (p.Arg440Cys)
|
|
|
NM_000127.3(EXT1):c.1319G>C (p.Arg440Pro)
|
|
|
NM_000127.3(EXT1):c.1320dup (p.Asn441Ter)
|
rs1811942900
|
|
NM_000127.3(EXT1):c.1321A>G (p.Asn441Asp)
|
|
|
NM_000127.3(EXT1):c.1332A>G (p.Ile444Met)
|
|
|
NM_000127.3(EXT1):c.1335G>A (p.Trp445Ter)
|
rs1811942574
|
|
NM_000127.3(EXT1):c.1349G>A (p.Gly450Glu)
|
rs1811942159
|
|
NM_000127.3(EXT1):c.1350del (p.Gly451fs)
|
rs1811942117
|
|
NM_000127.3(EXT1):c.1352G>A (p.Gly451Glu)
|
rs1430395411
|
|
NM_000127.3(EXT1):c.1368A>G (p.Pro456=)
|
|
|
NM_000127.3(EXT1):c.1383T>A (p.Tyr461Ter)
|
|
|
NM_000127.3(EXT1):c.1383T>C (p.Tyr461=)
|
|
|
NM_000127.3(EXT1):c.1384_1388del (p.Leu462fs)
|
rs2129749144
|
|
NM_000127.3(EXT1):c.1388G>T (p.Gly463Val)
|
|
|
NM_000127.3(EXT1):c.138G>T (p.Leu46Phe)
|
|
|
NM_000127.3(EXT1):c.1391A>G (p.Asp464Gly)
|
rs2129749125
|
|
NM_000127.3(EXT1):c.1400A>C (p.Tyr467Ser)
|
rs2129749069
|
|
NM_000127.3(EXT1):c.1400dup (p.Tyr467Ter)
|
rs1811941012
|
|
NM_000127.3(EXT1):c.1401C>G (p.Tyr467Ter)
|
rs1811940928
|
|
NM_000127.3(EXT1):c.1401del (p.Tyr468fs)
|
rs1554579004
|
|
NM_000127.3(EXT1):c.1404C>G (p.Tyr468Ter)
|
rs1811940837
|
|
NM_000127.3(EXT1):c.1405del (p.Tyr469fs)
|
rs1811940788
|
|
NM_000127.3(EXT1):c.1407T>G (p.Tyr469Ter)
|
|
|
NM_000127.3(EXT1):c.1408G>A (p.Ala470Thr)
|
rs746738537
|
|
NM_000127.3(EXT1):c.1417+16C>T
|
|
|
NM_000127.3(EXT1):c.1417+19G>C
|
|
|
NM_000127.3(EXT1):c.1417+1G>A
|
rs1586997796
|
|
NM_000127.3(EXT1):c.1417+1G>T
|
rs1586997796
|
|
NM_000127.3(EXT1):c.1417+1del
|
rs2129748931
|
|
NM_000127.3(EXT1):c.1417+2T>A
|
rs1554578992
|
|
NM_000127.3(EXT1):c.1417+2dup
|
|
|
NM_000127.3(EXT1):c.1417+6T>C
|
rs1811940247
|
|
NM_000127.3(EXT1):c.1418-13C>T
|
|
|
NM_000127.3(EXT1):c.1418-13_1418-11del
|
rs1203626052
|
|
NM_000127.3(EXT1):c.1418-1G>A
|
rs2129741436
|
|
NM_000127.3(EXT1):c.1418-20T>C
|
rs376258820
|
|
NM_000127.3(EXT1):c.1418-2A>G
|
rs1554578802
|
|
NM_000127.3(EXT1):c.1418-7A>G
|
|
|
NM_000127.3(EXT1):c.1418-8T>G
|
|
|
NM_000127.3(EXT1):c.141C>T (p.His47=)
|
|
|
NM_000127.3(EXT1):c.1421T>A (p.Leu474Ter)
|
rs1811893325
|
|
NM_000127.3(EXT1):c.1421T>G (p.Leu474Ter)
|
rs1811893325
|
|
NM_000127.3(EXT1):c.1424del (p.Lys475fs)
|
|
|
NM_000127.3(EXT1):c.1425G>A (p.Lys475=)
|
rs1442814688
|
|
NM_000127.3(EXT1):c.1429C>G (p.Pro477Ala)
|
|
|
NM_000127.3(EXT1):c.1430C>T (p.Pro477Leu)
|
|
|
NM_000127.3(EXT1):c.1431del (p.Ser478fs)
|
rs1554578798
|
|
NM_000127.3(EXT1):c.1431dup (p.Ser478fs)
|
rs1554578798
|
|
NM_000127.3(EXT1):c.1434_1440dup (p.Thr481fs)
|
rs1811892597
|
|
NM_000127.3(EXT1):c.1437del (p.Lys479fs)
|
|
|
NM_000127.3(EXT1):c.1458G>A (p.Ala486=)
|
rs765275156
|
|
NM_000127.3(EXT1):c.1463C>A (p.Thr488Asn)
|
rs759514310
|
|
NM_000127.3(EXT1):c.1465C>A (p.Pro489Thr)
|
|
|
NM_000127.3(EXT1):c.1468del (p.Leu490fs)
|
rs886039355
|
|
NM_000127.3(EXT1):c.1468dup (p.Leu490fs)
|
rs886039355
|
|
NM_000127.3(EXT1):c.1469del (p.Leu490fs)
|
rs886039356
|
|
NM_000127.3(EXT1):c.146C>G (p.Pro49Arg)
|
|
|
NM_000127.3(EXT1):c.1477C>T (p.Gln493Ter)
|
rs1811890821
|
|
NM_000127.3(EXT1):c.147C>T (p.Pro49=)
|
rs1248782526
|
|
NM_000127.3(EXT1):c.1481C>T (p.Ser494Phe)
|
|
|
NM_000127.3(EXT1):c.1486C>T (p.Pro496Ser)
|
|
|
NM_000127.3(EXT1):c.1503C>T (p.Leu501=)
|
rs146108006
|
|
NM_000127.3(EXT1):c.1508_1512del (p.Ala503fs)
|
|
|
NM_000127.3(EXT1):c.1515C>A (p.Ala505=)
|
rs2129740778
|
|
NM_000127.3(EXT1):c.1522C>T (p.Gln508Ter)
|
rs2129740737
|
|
NM_000127.3(EXT1):c.1522del (p.Gln508fs)
|
rs2129740749
|
|
NM_000127.3(EXT1):c.1528T>C (p.Cys510Arg)
|
|
|
NM_000127.3(EXT1):c.1534C>T (p.Gln512Ter)
|
rs1383256196
|
|
NM_000127.3(EXT1):c.1536+11A>G
|
|
|
NM_000127.3(EXT1):c.1536+1G>A
|
rs1811889441
|
|
NM_000127.3(EXT1):c.1536+1G>C
|
rs1811889441
|
|
NM_000127.3(EXT1):c.1536+3G>A
|
rs2129740657
|
|
NM_000127.3(EXT1):c.1536+5G>C
|
|
|
NM_000127.3(EXT1):c.1536G>C (p.Gln512His)
|
rs1811889486
|
|
NM_000127.3(EXT1):c.1537-16G>A
|
|
|
NM_000127.3(EXT1):c.1537-1G>C
|
rs2129736985
|
|
NM_000127.3(EXT1):c.1537-2A>G
|
rs1554578710
|
|
NM_000127.3(EXT1):c.1537A>G (p.Ile513Val)
|
|
|
NM_000127.3(EXT1):c.153G>A (p.Pro51=)
|
|
|
NM_000127.3(EXT1):c.1543G>A (p.Val515Ile)
|
|
|
NM_000127.3(EXT1):c.154G>T (p.Asp52Tyr)
|
|
|
NM_000127.3(EXT1):c.1550G>A (p.Trp517Ter)
|
|
|
NM_000127.3(EXT1):c.1551G>A (p.Trp517Ter)
|
rs1811865335
|
|
NM_000127.3(EXT1):c.1567del (p.Leu523fs)
|
rs1811864784
|
|
NM_000127.3(EXT1):c.1571C>T (p.Pro524Leu)
|
|
|
NM_000127.3(EXT1):c.1576A>T (p.Lys526Ter)
|
rs1563569983
|
|
NM_000127.3(EXT1):c.157C>A (p.His53Asn)
|
|
|
NM_000127.3(EXT1):c.1586G>A (p.Trp529Ter)
|
|
|
NM_000127.3(EXT1):c.1598C>T (p.Ala533Val)
|
|
|
NM_000127.3(EXT1):c.1599T>C (p.Ala533=)
|
|
|
NM_000127.3(EXT1):c.15dup (p.Arg6fs)
|
rs759834555
|
|
NM_000127.3(EXT1):c.1611C>T (p.Val537=)
|
|
|
NM_000127.3(EXT1):c.1616T>C (p.Ile539Thr)
|
|
|
NM_000127.3(EXT1):c.1617dup (p.Glu540Ter)
|
rs1811863055
|
|
NM_000127.3(EXT1):c.1624G>T (p.Glu542Ter)
|
rs2129736434
|
|
NM_000127.3(EXT1):c.1632+10G>A
|
|
|
NM_000127.3(EXT1):c.1632+16G>A
|
|
|
NM_000127.3(EXT1):c.1632+16G>C
|
|
|
NM_000127.3(EXT1):c.1632+1dup
|
rs1811862827
|
|
NM_000127.3(EXT1):c.1632+2T>G
|
|
|
NM_000127.3(EXT1):c.1632+9C>A
|
rs368634215
|
|
NM_000127.3(EXT1):c.1633-14C>G
|
|
|
NM_000127.3(EXT1):c.1633-15T>A
|
|
|
NM_000127.3(EXT1):c.1633-16T>C
|
|
|
NM_000127.3(EXT1):c.1633-1G>A
|
rs1823354043
|
|
NM_000127.3(EXT1):c.1633-1G>T
|
rs1823354043
|
|
NM_000127.3(EXT1):c.1633-34_1670del
|
rs1554657940
|
|
NM_000127.3(EXT1):c.1635T>G (p.Val545=)
|
|
|
NM_000127.3(EXT1):c.1642del (p.Ser548fs)
|
|
|
NM_000127.3(EXT1):c.1656del (p.Tyr553fs)
|
rs1823353269
|
|
NM_000127.3(EXT1):c.1658A>G (p.Tyr553Cys)
|
|
|
NM_000127.3(EXT1):c.1658dup (p.Tyr553Ter)
|
rs2129720355
|
|
NM_000127.3(EXT1):c.1659C>G (p.Tyr553Ter)
|
rs757115396
|
|
NM_000127.3(EXT1):c.1659del (p.Pro552_Tyr553insTer)
|
rs1823353089
|
|
NM_000127.3(EXT1):c.165G>A (p.Trp55Ter)
|
rs1586280132
|
|
NM_000127.3(EXT1):c.1660G>A (p.Asp554Asn)
|
|
|
NM_000127.3(EXT1):c.1660G>T (p.Asp554Tyr)
|
rs751582814
|
|
NM_000127.3(EXT1):c.1664A>T (p.Asn555Ile)
|
|
|
NM_000127.3(EXT1):c.1664dup (p.Asn555fs)
|
rs1586993159
|
|
NM_000127.3(EXT1):c.1666dup (p.Ile556fs)
|
|
|
NM_000127.3(EXT1):c.1668_1680dup (p.Val561fs)
|
|
|
NM_000127.3(EXT1):c.166C>G (p.Pro56Ala)
|
rs368004125
|
|
NM_000127.3(EXT1):c.1670T>C (p.Ile557Thr)
|
|
|
NM_000127.3(EXT1):c.1670_1687del (p.Ile557_Leu562del)
|
|
|
NM_000127.3(EXT1):c.1677C>T (p.Asp559=)
|
rs752594306
|
|
NM_000127.3(EXT1):c.1677_1678insTGTCATCACAGAC (p.Ala560fs)
|
rs1823352329
|
|
NM_000127.3(EXT1):c.1677_1681del (p.Val561fs)
|
rs1823351882
|
|
NM_000127.3(EXT1):c.1678_1679del (p.Ala560fs)
|
rs1823352107
|
|
NM_000127.3(EXT1):c.1678_1679dup (p.Val561fs)
|
rs1823352107
|
|
NM_000127.3(EXT1):c.1685T>C (p.Leu562Pro)
|
|
|
NM_000127.3(EXT1):c.1685_1701dup (p.Thr568fs)
|
rs1554657927
|
|
NM_000127.3(EXT1):c.1688G>A (p.Ser563Asn)
|
|
|
NM_000127.3(EXT1):c.1692dup (p.Asp565Ter)
|
rs2129720016
|
|
NM_000127.3(EXT1):c.1696G>T (p.Glu566Ter)
|
rs1586993117
|
|
NM_000127.3(EXT1):c.16C>G (p.Arg6Gly)
|
|
|
NM_000127.3(EXT1):c.1702_1703dup (p.Val569fs)
|
|
|
NM_000127.3(EXT1):c.1718_1719del (p.Thr573fs)
|
rs1823350888
|
|
NM_000127.3(EXT1):c.1722+11A>G
|
|
|
NM_000127.3(EXT1):c.1722+1G>A
|
|
|
NM_000127.3(EXT1):c.1722+1G>T
|
rs1823350857
|
|
NM_000127.3(EXT1):c.1722+2T>G
|
rs1823350795
|
|
NM_000127.3(EXT1):c.1722+2dup
|
|
|
NM_000127.3(EXT1):c.1723-17T>A
|
rs2129702062
|
|
NM_000127.3(EXT1):c.1723-2A>C
|
rs1823255835
|
|
NM_000127.3(EXT1):c.1723-2A>T
|
rs1823255835
|
|
NM_000127.3(EXT1):c.1731C>T (p.Phe577=)
|
|
|
NM_000127.3(EXT1):c.1745G>A (p.Trp582Ter)
|
rs1586990402
|
|
NM_000127.3(EXT1):c.1746G>A (p.Trp582Ter)
|
rs1586990398
|
|
NM_000127.3(EXT1):c.1762dup (p.Arg588fs)
|
rs2129701760
|
|
NM_000127.3(EXT1):c.1767dup (p.Val590fs)
|
|
|
NM_000127.3(EXT1):c.176del (p.Pro59fs)
|
rs1817889027
|
|
NM_000127.3(EXT1):c.1770_1774del (p.Gly591fs)
|
rs1823254431
|
|
NM_000127.3(EXT1):c.1771G>C (p.Gly591Arg)
|
|
|
NM_000127.3(EXT1):c.1773del (p.Tyr592fs)
|
rs1586990361
|
|
NM_000127.3(EXT1):c.1776C>A (p.Tyr592Ter)
|
rs1823254238
|
|
NM_000127.3(EXT1):c.1779del (p.Ala594fs)
|
rs2129701642
|
|
NM_000127.3(EXT1):c.1784_1785del (p.Arg595fs)
|
|
|
NM_000127.3(EXT1):c.178G>T (p.Asp60Tyr)
|
rs2130045112
|
|
NM_000127.3(EXT1):c.1796G>A (p.Trp599Ter)
|
rs1823253698
|
|
NM_000127.3(EXT1):c.1797G>A (p.Trp599Ter)
|
rs1718310043
|
|
NM_000127.3(EXT1):c.17G>C (p.Arg6Pro)
|
|
|
NM_000127.3(EXT1):c.1801A>G (p.Asn601Asp)
|
|
|
NM_000127.3(EXT1):c.1805_1806del (p.Asn601_Ser602insTer)
|
|
|
NM_000127.3(EXT1):c.1806dup (p.Lys603Ter)
|
rs1823253516
|
|
NM_000127.3(EXT1):c.1807A>T (p.Lys603Ter)
|
|
|
NM_000127.3(EXT1):c.180C>A (p.Asp60Glu)
|
|
|
NM_000127.3(EXT1):c.1810G>T (p.Glu604Ter)
|
rs1554657437
|
|
NM_000127.3(EXT1):c.1814G>A (p.Arg605Gln)
|
rs755747479
|
|
NM_000127.3(EXT1):c.1817G>A (p.Trp606Ter)
|
rs1586990317
|
|
NM_000127.3(EXT1):c.1818G>A (p.Trp606Ter)
|
rs1823253080
|
|
NM_000127.3(EXT1):c.1819G>T (p.Gly607Ter)
|
rs1823253013
|
|
NM_000127.3(EXT1):c.1819_1820del (p.Gly607fs)
|
|
|
NM_000127.3(EXT1):c.1829C>A (p.Ser610Ter)
|
rs2129701251
|
|
NM_000127.3(EXT1):c.1835G>A (p.Trp612Ter)
|
|
|
NM_000127.3(EXT1):c.1836G>A (p.Trp612Ter)
|
rs2129701239
|
|
NM_000127.3(EXT1):c.1842C>T (p.Asn614=)
|
|
|
NM_000127.3(EXT1):c.1844dup (p.Asp615fs)
|
|
|
NM_000127.3(EXT1):c.1845C>T (p.Asp615=)
|
rs2129701116
|
|
NM_000127.3(EXT1):c.1845del (p.Tyr616fs)
|
rs2129701119
|
|
NM_000127.3(EXT1):c.1848C>G (p.Tyr616Ter)
|
rs1563873580
|
|
NM_000127.3(EXT1):c.1848C>T (p.Tyr616=)
|
|
|
NM_000127.3(EXT1):c.1852A>G (p.Met618Val)
|
|
|
NM_000127.3(EXT1):c.1867G>A (p.Ala623Thr)
|
rs1823251698
|
|
NM_000127.3(EXT1):c.1872T>C (p.Ala624=)
|
rs1823251633
|
|
NM_000127.3(EXT1):c.1878C>G (p.Tyr626Ter)
|
rs886039357
|
|
NM_000127.3(EXT1):c.1880A>G (p.His627Arg)
|
|
|
NM_000127.3(EXT1):c.1882A>T (p.Lys628Ter)
|
rs2129700894
|
|
NM_000127.3(EXT1):c.1883+14A>T
|
|
|
NM_000127.3(EXT1):c.1883+1G>A
|
rs1823251265
|
|
NM_000127.3(EXT1):c.1883+1G>T
|
rs1823251265
|
|
NM_000127.3(EXT1):c.1883+2T>C
|
rs1823251224
|
|
NM_000127.3(EXT1):c.1883+6del
|
|
|
NM_000127.3(EXT1):c.1883A>G (p.Lys628Arg)
|
|
|
NM_000127.3(EXT1):c.1884-1G>A
|
rs1131691623
|
|
NM_000127.3(EXT1):c.1884-1G>T
|
rs1131691623
|
|
NM_000127.3(EXT1):c.1884-3C>G
|
rs2129694265
|
|
NM_000127.3(EXT1):c.1885T>C (p.Tyr629His)
|
|
|
NM_000127.3(EXT1):c.1885TAT[1] (p.Tyr630del)
|
rs1823215172
|
|
NM_000127.3(EXT1):c.1885dup (p.Tyr629fs)
|
rs1823215251
|
|
NM_000127.3(EXT1):c.1887T>C (p.Tyr629=)
|
rs1823215215
|
|
NM_000127.3(EXT1):c.1888dup (p.Tyr630fs)
|
|
|
NM_000127.3(EXT1):c.188G>A (p.Arg63His)
|
|
|
NM_000127.3(EXT1):c.188G>T (p.Arg63Leu)
|
rs187891947
|
|
NM_000127.3(EXT1):c.18C>G (p.Arg6=)
|
rs1199624139
|
|
NM_000127.3(EXT1):c.1900_1901insGG (p.Tyr634fs)
|
|
|
NM_000127.3(EXT1):c.1902C>G (p.Tyr634Ter)
|
rs2129694149
|
|
NM_000127.3(EXT1):c.1906del (p.His636fs)
|
rs2129694129
|
|
NM_000127.3(EXT1):c.1910A>G (p.Tyr637Cys)
|
|
|
NM_000127.3(EXT1):c.1911C>A (p.Tyr637Ter)
|
rs1586989220
|
|
NM_000127.3(EXT1):c.1925del (p.Leu642fs)
|
rs1823214768
|
|
NM_000127.3(EXT1):c.1936G>T (p.Val646Leu)
|
rs1823214606
|
|
NM_000127.3(EXT1):c.1944A>G (p.Gln648=)
|
|
|
NM_000127.3(EXT1):c.1944del (p.Gln648fs)
|
rs1586989202
|
|
NM_000127.3(EXT1):c.1945T>C (p.Leu649=)
|
|
|
NM_000127.3(EXT1):c.1948G>A (p.Ala650Thr)
|
|
|
NM_000127.3(EXT1):c.194del (p.Phe65fs)
|
|
|
NM_000127.3(EXT1):c.1952_1959del (p.Asn651fs)
|
rs1586989189
|
|
NM_000127.3(EXT1):c.1965del (p.Leu656fs)
|
rs1823213816
|
|
NM_000127.3(EXT1):c.1971G>C (p.Met657Ile)
|
|
|
NM_000127.3(EXT1):c.1971del (p.Met657fs)
|
rs1823213767
|
|
NM_000127.3(EXT1):c.197T>C (p.Val66Ala)
|
rs1242925512
|
|
NM_000127.3(EXT1):c.1983G>A (p.Val661=)
|
rs962526270
|
|
NM_000127.3(EXT1):c.1987G>C (p.Ala663Pro)
|
|
|
NM_000127.3(EXT1):c.1998A>G (p.Lys666=)
|
|
|
NM_000127.3(EXT1):c.1998dup (p.Leu667fs)
|
rs2129693616
|
|
NM_000127.3(EXT1):c.19T>G (p.Tyr7Asp)
|
rs2130046079
|
|
NM_000127.3(EXT1):c.1A>C (p.Met1Leu)
|
|
|
NM_000127.3(EXT1):c.2000T>A (p.Leu667Ter)
|
rs1131692020
|
|
NM_000127.3(EXT1):c.2004del (p.Pro669fs)
|
rs1563872934
|
|
NM_000127.3(EXT1):c.200C>A (p.Pro67His)
|
rs371817652
|
|
NM_000127.3(EXT1):c.200C>G (p.Pro67Arg)
|
rs371817652
|
|
NM_000127.3(EXT1):c.2016G>A (p.Val672=)
|
|
|
NM_000127.3(EXT1):c.2026A>T (p.Lys676Ter)
|
rs1823212809
|
|
NM_000127.3(EXT1):c.2029C>T (p.Gln677Ter)
|
rs1823212774
|
|
NM_000127.3(EXT1):c.203G>A (p.Trp68Ter)
|
rs2130044984
|
|
NM_000127.3(EXT1):c.2043A>T (p.Thr681=)
|
rs746481404
|
|
NM_000127.3(EXT1):c.2044_2047del (p.Met682fs)
|
rs1823212594
|
|
NM_000127.3(EXT1):c.2053C>T (p.Gln685Ter)
|
rs1823212414
|
|
NM_000127.3(EXT1):c.2055+10G>A
|
|
|
NM_000127.3(EXT1):c.2055+20del
|
|
|
NM_000127.3(EXT1):c.2055+52_*298del
|
|
|
NM_000127.3(EXT1):c.2055+5G>A
|
rs1823212383
|
|
NM_000127.3(EXT1):c.2056-14C>G
|
|
|
NM_000127.3(EXT1):c.2056-14C>T
|
rs759290391
|
|
NM_000127.3(EXT1):c.2059del (p.Ser687fs)
|
rs1554656288
|
|
NM_000127.3(EXT1):c.2065G>T (p.Ala689Ser)
|
|
|
NM_000127.3(EXT1):c.2067T>G (p.Ala689=)
|
|
|
NM_000127.3(EXT1):c.2071C>T (p.Arg691Cys)
|
rs1586987089
|
|
NM_000127.3(EXT1):c.2079T>C (p.Ala693=)
|
|
|
NM_000127.3(EXT1):c.208C>T (p.Gln70Ter)
|
rs1817887343
|
|
NM_000127.3(EXT1):c.2098C>A (p.Gln700Lys)
|
|
|
NM_000127.3(EXT1):c.2101C>T (p.Arg701Ter)
|
rs1363815113
|
|
NM_000127.3(EXT1):c.2104C>T (p.Gln702Ter)
|
rs1554656266
|
|
NM_000127.3(EXT1):c.2115del (p.Met705fs)
|
rs1823137578
|
|
NM_000127.3(EXT1):c.2119dup (p.Thr707fs)
|
rs1823137520
|
|
NM_000127.3(EXT1):c.211T>C (p.Leu71=)
|
|
|
NM_000127.3(EXT1):c.2120C>T (p.Thr707Met)
|
rs756718693
|
|
NM_000127.3(EXT1):c.2131del (p.Trp711fs)
|
rs2129679904
|
|
NM_000127.3(EXT1):c.2132G>A (p.Trp711Ter)
|
rs786205593
|
|
NM_000127.3(EXT1):c.2133G>A (p.Trp711Ter)
|
rs2129679879
|
|
NM_000127.3(EXT1):c.2134T>C (p.Phe712Leu)
|
|
|
NM_000127.3(EXT1):c.213G>C (p.Leu71Phe)
|
|
|
NM_000127.3(EXT1):c.2143A>G (p.Met715Val)
|
rs1225915837
|
|
NM_000127.3(EXT1):c.2156A>C (p.His719Pro)
|
rs751787859
|
|
NM_000127.3(EXT1):c.2161C>G (p.Gln721Glu)
|
|
|
NM_000127.3(EXT1):c.2170C>T (p.Leu724Phe)
|
|
|
NM_000127.3(EXT1):c.2179G>A (p.Val727Ile)
|
|
|
NM_000127.3(EXT1):c.218del (p.Asn73fs)
|
rs1554601568
|
|
NM_000127.3(EXT1):c.2194C>T (p.Gln732Ter)
|
|
|
NM_000127.3(EXT1):c.2198_2203delinsAAGAGGACGGTCTT (p.Val733fs)
|
rs2129679465
|
|
NM_000127.3(EXT1):c.2199C>T (p.Val733=)
|
rs201230140
|
|
NM_000127.3(EXT1):c.2203A>G (p.Ile735Val)
|
|
|
NM_000127.3(EXT1):c.2205T>C (p.Ile735=)
|
rs1823135353
|
|
NM_000127.3(EXT1):c.2226C>A (p.Asp742Glu)
|
|
|
NM_000127.3(EXT1):c.232G>A (p.Val78Met)
|
|
|
NM_000127.3(EXT1):c.238A>G (p.Ile80Val)
|
rs1817886276
|
|
NM_000127.3(EXT1):c.240T>C (p.Ile80=)
|
|
|
NM_000127.3(EXT1):c.243C>A (p.Ser81=)
|
rs916118962
|
|
NM_000127.3(EXT1):c.247del (p.Arg83fs)
|
rs1554601559
|
|
NM_000127.3(EXT1):c.247dup (p.Arg83fs)
|
rs1554601559
|
|
NM_000127.3(EXT1):c.249dup (p.Gln84fs)
|
|
|
NM_000127.3(EXT1):c.250C>T (p.Gln84Ter)
|
rs1064793753
|
|
NM_000127.3(EXT1):c.251A>G (p.Gln84Arg)
|
|
|
NM_000127.3(EXT1):c.256C>T (p.Arg86Ter)
|
|
|
NM_000127.3(EXT1):c.260A>T (p.Asp87Val)
|
rs2130044605
|
|
NM_000127.3(EXT1):c.266A>C (p.Asn89Thr)
|
|
|
NM_000127.3(EXT1):c.266dup (p.Asn89fs)
|
rs1817885411
|
|
NM_000127.3(EXT1):c.276_277dup (p.Tyr93fs)
|
rs1586279952
|
|
NM_000127.3(EXT1):c.277T>A (p.Tyr93Asn)
|
rs1402667727
|
|
NM_000127.3(EXT1):c.279C>G (p.Tyr93Ter)
|
rs1227875610
|
|
NM_000127.3(EXT1):c.282dup (p.Gly95fs)
|
rs1563659649
|
|
NM_000127.3(EXT1):c.286A>G (p.Lys96Glu)
|
|
|
NM_000127.3(EXT1):c.286A>T (p.Lys96Ter)
|
rs1817884837
|
|
NM_000127.3(EXT1):c.287_290dup (p.Cys98fs)
|
rs2130044431
|
|
NM_000127.3(EXT1):c.287del (p.Lys96fs)
|
rs1817884791
|
|
NM_000127.3(EXT1):c.291G>T (p.Lys97Asn)
|
rs2130044422
|
|
NM_000127.3(EXT1):c.293del (p.Cys98fs)
|
rs2130044416
|
|
NM_000127.3(EXT1):c.315T>C (p.Asp105=)
|
|
|
NM_000127.3(EXT1):c.318C>A (p.Phe106Leu)
|
rs1817884143
|
|
NM_000127.3(EXT1):c.31C>T (p.Leu11Phe)
|
rs769143352
|
|
NM_000127.3(EXT1):c.322C>T (p.Leu108Phe)
|
rs2130044245
|
|
NM_000127.3(EXT1):c.329A>G (p.Lys110Arg)
|
rs1178109514
|
|
NM_000127.3(EXT1):c.331A>T (p.Lys111Ter)
|
|
|
NM_000127.3(EXT1):c.345dup (p.Val116fs)
|
|
|
NM_000127.3(EXT1):c.349T>C (p.Tyr117His)
|
|
|
NM_000127.3(EXT1):c.351C>G (p.Tyr117Ter)
|
rs982804750
|
|
NM_000127.3(EXT1):c.356_357del (p.Tyr119fs)
|
|
|
NM_000127.3(EXT1):c.357C>A (p.Tyr119Ter)
|
rs119103289
|
|
NM_000127.3(EXT1):c.357C>G (p.Tyr119Ter)
|
|
|
NM_000127.3(EXT1):c.360dup (p.Gln121fs)
|
rs1817882619
|
|
NM_000127.3(EXT1):c.361C>T (p.Gln121Ter)
|
rs2130043930
|
|
NM_000127.3(EXT1):c.364C>T (p.Gln122Ter)
|
rs1586279835
|
|
NM_000127.3(EXT1):c.369_370del (p.Lys126fs)
|
rs2130043872
|
|
NM_000127.3(EXT1):c.371G>A (p.Gly124Glu)
|
rs761940324
|
|
NM_000127.3(EXT1):c.373G>T (p.Glu125Ter)
|
|
|
NM_000127.3(EXT1):c.373del (p.Glu125fs)
|
|
|
NM_000127.3(EXT1):c.373dup (p.Glu125fs)
|
rs2130043834
|
|
NM_000127.3(EXT1):c.379del (p.Ile127fs)
|
|
|
NM_000127.3(EXT1):c.384C>G (p.Ala128=)
|
|
|
NM_000127.3(EXT1):c.385G>T (p.Glu129Ter)
|
|
|
NM_000127.3(EXT1):c.392dup (p.Tyr131Ter)
|
rs1817881221
|
|
NM_000127.3(EXT1):c.393C>A (p.Tyr131Ter)
|
rs2130043699
|
|
NM_000127.3(EXT1):c.393C>G (p.Tyr131Ter)
|
rs2130043699
|
|
NM_000127.3(EXT1):c.398del (p.Asn133fs)
|
|
|
NM_000127.3(EXT1):c.402del (p.Ile134_Leu135insTer)
|
rs1817881036
|
|
NM_000127.3(EXT1):c.404T>C (p.Leu135Pro)
|
|
|
NM_000127.3(EXT1):c.407C>A (p.Ala136Glu)
|
|
|
NM_000127.3(EXT1):c.409G>A (p.Ala137Thr)
|
|
|
NM_000127.3(EXT1):c.414C>T (p.Ile138=)
|
|
|
NM_000127.3(EXT1):c.416_419dup (p.Ser141fs)
|
rs2130043564
|
|
NM_000127.3(EXT1):c.419G>A (p.Gly140Asp)
|
|
|
NM_000127.3(EXT1):c.419del (p.Gly140fs)
|
|
|
NM_000127.3(EXT1):c.422C>T (p.Ser141Phe)
|
rs1817880635
|
|
NM_000127.3(EXT1):c.423C>T (p.Ser141=)
|
rs2130043533
|
|
NM_000127.3(EXT1):c.428T>C (p.Phe143Ser)
|
rs1188458258
|
|
NM_000127.3(EXT1):c.435del (p.Ser146fs)
|
rs2130043490
|
|
NM_000127.3(EXT1):c.43_53del (p.Ser15fs)
|
|
|
NM_000127.3(EXT1):c.441C>T (p.Asp147=)
|
|
|
NM_000127.3(EXT1):c.444del (p.Ser149fs)
|
rs1182900059
|
|
NM_000127.3(EXT1):c.444dup (p.Ser149fs)
|
|
|
NM_000127.3(EXT1):c.449A>G (p.Gln150Arg)
|
rs1817880148
|
|
NM_000127.3(EXT1):c.44C>G (p.Ser15Cys)
|
|
|
NM_000127.3(EXT1):c.453G>C (p.Ala151=)
|
rs780843781
|
|
NM_000127.3(EXT1):c.455G>A (p.Cys152Tyr)
|
rs2130043370
|
|
NM_000127.3(EXT1):c.455_456del (p.Cys152fs)
|
|
|
NM_000127.3(EXT1):c.456C>A (p.Cys152Ter)
|
rs1554601534
|
|
NM_000127.3(EXT1):c.458T>C (p.Leu153Pro)
|
rs1817879832
|
|
NM_000127.3(EXT1):c.461_462del (p.Phe154fs)
|
rs2130043334
|
|
NM_000127.3(EXT1):c.465C>T (p.Val155=)
|
|
|
NM_000127.3(EXT1):c.46del (p.Cys16fs)
|
rs1817893887
|
|
NM_000127.3(EXT1):c.472C>G (p.Leu158Val)
|
|
|
NM_000127.3(EXT1):c.487_488insAA (p.Arg163fs)
|
rs1817879250
|
|
NM_000127.3(EXT1):c.487dup (p.Arg163fs)
|
rs1817879250
|
|
NM_000127.3(EXT1):c.490_491del (p.Asp164fs)
|
rs1817879125
|
|
NM_000127.3(EXT1):c.499T>C (p.Ser167Pro)
|
rs1227559201
|
|
NM_000127.3(EXT1):c.49_61del (p.Leu17fs)
|
|
|
NM_000127.3(EXT1):c.4C>T (p.Gln2Ter)
|
rs1817895168
|
|
NM_000127.3(EXT1):c.510T>G (p.Tyr170Ter)
|
|
|
NM_000127.3(EXT1):c.515_527del (p.His172fs)
|
|
|
NM_000127.3(EXT1):c.516_517insTA (p.Asn173Ter)
|
rs1817878703
|
|
NM_000127.3(EXT1):c.517A>G (p.Asn173Asp)
|
rs1448140995
|
|
NM_000127.3(EXT1):c.518A>G (p.Asn173Ser)
|
rs1817878624
|
|
NM_000127.3(EXT1):c.521del (p.Asn173_Leu174insTer)
|
rs1554601526
|
|
NM_000127.3(EXT1):c.528C>G (p.Ser176=)
|
|
|
NM_000127.3(EXT1):c.533_534dup (p.Gln179fs)
|
rs1554601525
|
|
NM_000127.3(EXT1):c.535C>G (p.Gln179Glu)
|
|
|
NM_000127.3(EXT1):c.535C>T (p.Gln179Ter)
|
rs886039561
|
|
NM_000127.3(EXT1):c.538_539del (p.Leu181fs)
|
rs886039486
|
|
NM_000127.3(EXT1):c.540_962+399del
|
rs2130039927
|
|
NM_000127.3(EXT1):c.541C>G (p.Leu181Val)
|
|
|
NM_000127.3(EXT1):c.542_543del (p.Leu181fs)
|
rs1563659474
|
|
NM_000127.3(EXT1):c.551_552del (p.Leu183_Trp184insTer)
|
|
|
NM_000127.3(EXT1):c.552G>A (p.Trp184Ter)
|
|
|
NM_000127.3(EXT1):c.557_558del (p.Asn186fs)
|
rs2130042921
|
|
NM_000127.3(EXT1):c.558T>C (p.Asn186=)
|
rs1817877428
|
|
NM_000127.3(EXT1):c.559G>A (p.Gly187Ser)
|
|
|
NM_000127.3(EXT1):c.55del (p.Leu19fs)
|
|
|
NM_000127.3(EXT1):c.563G>A (p.Arg188Lys)
|
rs775696069
|
|
NM_000127.3(EXT1):c.564G>T (p.Arg188Ser)
|
rs1817877271
|
|
NM_000127.3(EXT1):c.567_568delinsAT (p.Asn189_His190delinsLysTyr)
|
rs1817877229
|
|
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.574A>G (p.Ile192Val)
|
|
|
NM_000127.3(EXT1):c.575T>A (p.Ile192Asn)
|
rs1817877044
|
|
NM_000127.3(EXT1):c.579T>A (p.Phe193Leu)
|
rs2130042837
|
|
NM_000127.3(EXT1):c.582T>C (p.Asn194=)
|
|
|
NM_000127.3(EXT1):c.584T>G (p.Leu195Ter)
|
rs1586279621
|
|
NM_000127.3(EXT1):c.593G>T (p.Gly198Val)
|
rs1817876363
|
|
NM_000127.3(EXT1):c.595A>G (p.Thr199Ala)
|
rs1817876310
|
|
NM_000127.3(EXT1):c.598_669del (p.Trp200_Thr223del)
|
rs1554601502
|
|
NM_000127.3(EXT1):c.600G>A (p.Trp200Ter)
|
rs1817876148
|
|
NM_000127.3(EXT1):c.600G>C (p.Trp200Cys)
|
rs1817876148
|
|
NM_000127.3(EXT1):c.608A>C (p.Tyr203Ser)
|
rs1817876107
|
|
NM_000127.3(EXT1):c.608A>G (p.Tyr203Cys)
|
|
|
NM_000127.3(EXT1):c.60G>T (p.Leu20Phe)
|
rs1817893321
|
|
NM_000127.3(EXT1):c.60_64del (p.Tyr22fs)
|
rs2130045851
|
|
NM_000127.3(EXT1):c.611_614dup (p.Glu205fs)
|
rs2130042673
|
|
NM_000127.3(EXT1):c.612C>A (p.Thr204=)
|
|
|
NM_000127.3(EXT1):c.613G>T (p.Glu205Ter)
|
rs2130042683
|
|
NM_000127.3(EXT1):c.615G>A (p.Glu205=)
|
|
|
NM_000127.3(EXT1):c.624del (p.Phe209fs)
|
rs2130042609
|
|
NM_000127.3(EXT1):c.635G>C (p.Gly212Ala)
|
|
|
NM_000127.3(EXT1):c.637C>T (p.Gln213Ter)
|
rs2130042549
|
|
NM_000127.3(EXT1):c.642_663del (p.Met215fs)
|
rs1586279544
|
|
NM_000127.3(EXT1):c.642_675del (p.Met215fs)
|
rs1586279535
|
|
NM_000127.3(EXT1):c.644_647dup (p.Lys218fs)
|
rs1554601507
|
|
NM_000127.3(EXT1):c.644_654del (p.Met215fs)
|
rs2130042421
|
|
NM_000127.3(EXT1):c.646C>G (p.Leu216Val)
|
|
|
NM_000127.3(EXT1):c.648G>A (p.Leu216=)
|
rs2130042468
|
|
NM_000127.3(EXT1):c.649_662del (p.Ala217fs)
|
rs1817874249
|
|
NM_000127.3(EXT1):c.651_663del (p.Lys218fs)
|
rs1554601504
|
|
NM_000127.3(EXT1):c.651_664delinsTTT (p.Lys218fs)
|
rs1817873963
|
|
NM_000127.3(EXT1):c.651_665delinsTT (p.Lys218fs)
|
|
|
NM_000127.3(EXT1):c.651_668del (p.Lys218_Thr223del)
|
|
|
NM_000127.3(EXT1):c.654A>C (p.Lys218Asn)
|
|
|
NM_000127.3(EXT1):c.658A>G (p.Ser220Gly)
|
rs1554601506
|
|
NM_000127.3(EXT1):c.659G>A (p.Ser220Asn)
|
|
|
NM_000127.3(EXT1):c.663C>T (p.Ile221=)
|
|
|
NM_000127.3(EXT1):c.668C>T (p.Thr223Ile)
|
|
|
NM_000127.3(EXT1):c.66T>G (p.Tyr22Ter)
|
rs764093488
|
|
NM_000127.3(EXT1):c.674del (p.Asn225fs)
|
rs1817873681
|
|
NM_000127.3(EXT1):c.678C>T (p.Phe226=)
|
|
|
NM_000127.3(EXT1):c.679C>T (p.Arg227Ter)
|
rs1817873582
|
|
NM_000127.3(EXT1):c.686dup (p.Asn229fs)
|
rs1817873443
|
|
NM_000127.3(EXT1):c.692A>T (p.Asp231Val)
|
|
|
NM_000127.3(EXT1):c.692_694del (p.Asp231del)
|
rs1817873196
|
|
NM_000127.3(EXT1):c.698del (p.Ser233fs)
|
rs1817872999
|
|
NM_000127.3(EXT1):c.69C>A (p.Phe23Leu)
|
|
|
NM_000127.3(EXT1):c.70G>A (p.Gly24Arg)
|
rs1817893036
|
|
NM_000127.3(EXT1):c.70G>T (p.Gly24Ter)
|
rs1817893036
|
|
NM_000127.3(EXT1):c.711_712del (p.Phe237_Ser238insTer)
|
rs2130042109
|
|
NM_000127.3(EXT1):c.712del (p.Ser238fs)
|
|
|
NM_000127.3(EXT1):c.713del (p.Ser238fs)
|
rs2130042099
|
|
NM_000127.3(EXT1):c.718G>C (p.Asp240His)
|
|
|
NM_000127.3(EXT1):c.726C>T (p.Pro242=)
|
|
|
NM_000127.3(EXT1):c.739G>A (p.Glu247Lys)
|
|
|
NM_000127.3(EXT1):c.739G>T (p.Glu247Ter)
|
|
|
NM_000127.3(EXT1):c.73G>C (p.Gly25Arg)
|
|
|
NM_000127.3(EXT1):c.747del (p.Phe250_Leu251insTer)
|
rs1817872132
|
|
NM_000127.3(EXT1):c.747dup (p.Phe250fs)
|
rs1817872132
|
|
NM_000127.3(EXT1):c.752del (p.Phe250_Leu251insTer)
|
rs2130041954
|
|
NM_000127.3(EXT1):c.756del (p.Lys252fs)
|
|
|
NM_000127.3(EXT1):c.757T>C (p.Phe253Leu)
|
rs1436385815
|
|
NM_000127.3(EXT1):c.757_760dup (p.Asn254fs)
|
|
|
NM_000127.3(EXT1):c.764C>A (p.Thr255Asn)
|
|
|
NM_000127.3(EXT1):c.765C>G (p.Thr255=)
|
|
|
NM_000127.3(EXT1):c.769C>T (p.Pro257Ser)
|
rs1817871592
|
|
NM_000127.3(EXT1):c.770del (p.Pro257fs)
|
rs2130041891
|
|
NM_000127.3(EXT1):c.772_773dup (p.Arg260fs)
|
rs1817871338
|
|
NM_000127.3(EXT1):c.773C>A (p.Pro258His)
|
rs2130041856
|
|
NM_000127.3(EXT1):c.773_777del (p.Pro258fs)
|
rs2130041831
|
|
NM_000127.3(EXT1):c.774T>A (p.Pro258=)
|
|
|
NM_000127.3(EXT1):c.783G>A (p.Lys261=)
|
|
|
NM_000127.3(EXT1):c.787del (p.Met263fs)
|
rs2130041790
|
|
NM_000127.3(EXT1):c.791T>G (p.Leu264Arg)
|
rs377162411
|
|
NM_000127.3(EXT1):c.792G>A (p.Leu264=)
|
|
|
NM_000127.3(EXT1):c.796T>A (p.Phe266Ile)
|
rs2130041754
|
|
NM_000127.3(EXT1):c.798del (p.Phe266fs)
|
rs1563659352
|
|
NM_000127.3(EXT1):c.79C>T (p.Gln27Ter)
|
rs1817892723
|
|
NM_000127.3(EXT1):c.802G>A (p.Gly268Arg)
|
rs1554601492
|
|
NM_000127.3(EXT1):c.802G>C (p.Gly268Arg)
|
rs1554601492
|
|
NM_000127.3(EXT1):c.803G>A (p.Gly268Glu)
|
rs886039352
|
|
NM_000127.3(EXT1):c.803G>T (p.Gly268Val)
|
rs886039352
|
|
NM_000127.3(EXT1):c.809G>C (p.Arg270Thr)
|
|
|
NM_000127.3(EXT1):c.812A>G (p.Tyr271Cys)
|
rs1064793786
|
|
NM_000127.3(EXT1):c.818_823delinsAAGGC (p.Thr273fs)
|
rs1817870176
|
|
NM_000127.3(EXT1):c.822del (p.Gly274_Ile275insTer)
|
rs1817870237
|
|
NM_000127.3(EXT1):c.830C>G (p.Ser277Ter)
|
|
|
NM_000127.3(EXT1):c.832G>T (p.Asp278Tyr)
|
rs2130041549
|
|
NM_000127.3(EXT1):c.837dup (p.Arg280fs)
|
rs2130041540
|
|
NM_000127.3(EXT1):c.838A>G (p.Arg280Gly)
|
rs1554601483
|
|
NM_000127.3(EXT1):c.838A>T (p.Arg280Trp)
|
|
|
NM_000127.3(EXT1):c.839G>C (p.Arg280Thr)
|
rs1586279403
|
|
NM_000127.3(EXT1):c.840G>C (p.Arg280Ser)
|
rs1563659325
|
|
NM_000127.3(EXT1):c.842A>C (p.Asn281Thr)
|
|
|
NM_000127.3(EXT1):c.844G>A (p.Ala282Thr)
|
|
|
NM_000127.3(EXT1):c.845C>T (p.Ala282Val)
|
|
|
NM_000127.3(EXT1):c.846del (p.Leu283fs)
|
rs1554601481
|
|
NM_000127.3(EXT1):c.850T>C (p.Tyr284His)
|
|
|
NM_000127.3(EXT1):c.852T>A (p.Tyr284Ter)
|
rs1057520608
|
|
NM_000127.3(EXT1):c.854dup (p.His285fs)
|
rs1554601476
|
|
NM_000127.3(EXT1):c.855C>T (p.His285=)
|
|
|
NM_000127.3(EXT1):c.856G>C (p.Val286Leu)
|
|
|
NM_000127.3(EXT1):c.868G>T (p.Glu290Ter)
|
rs759708614
|
|
NM_000127.3(EXT1):c.871G>A (p.Asp291Asn)
|
|
|
NM_000127.3(EXT1):c.873C>G (p.Asp291Glu)
|
rs372750330
|
|
NM_000127.3(EXT1):c.874G>T (p.Val292Phe)
|
rs1586279359
|
|
NM_000127.3(EXT1):c.889A>T (p.Thr297Ser)
|
rs1817868656
|
|
NM_000127.3(EXT1):c.905A>G (p.Lys302Arg)
|
|
|
NM_000127.3(EXT1):c.907del (p.Asp303fs)
|
rs2130041164
|
|
NM_000127.3(EXT1):c.910T>A (p.Trp304Arg)
|
rs1413726979
|
|
NM_000127.3(EXT1):c.912G>A (p.Trp304Ter)
|
rs1817868370
|
|
NM_000127.3(EXT1):c.913C>T (p.Gln305Ter)
|
rs1554601474
|
|
NM_000127.3(EXT1):c.934T>C (p.Cys312Arg)
|
rs1817867776
|
|
NM_000127.3(EXT1):c.934_936del (p.Cys312del)
|
rs1817867722
|
|
NM_000127.3(EXT1):c.936T>A (p.Cys312Ter)
|
rs2130041053
|
|
NM_000127.3(EXT1):c.947A>G (p.Asn316Ser)
|
|
|
NM_000127.3(EXT1):c.949del (p.Thr317fs)
|
|
|
NM_000127.3(EXT1):c.950C>G (p.Thr317Ser)
|
rs748945641
|
|
NM_000127.3(EXT1):c.957T>A (p.Tyr319Ter)
|
rs1586279297
|
|
NM_000127.3(EXT1):c.961A>T (p.Lys321Ter)
|
rs1817866954
|
|
NM_000127.3(EXT1):c.962+17del
|
|
|
NM_000127.3(EXT1):c.962+18C>T
|
|
|
NM_000127.3(EXT1):c.962+1G>A
|
rs886039353
|
|
NM_000127.3(EXT1):c.962+1G>C
|
rs886039353
|
|
NM_000127.3(EXT1):c.962+1G>T
|
rs886039353
|
|
NM_000127.3(EXT1):c.962+3_962+6del
|
rs1586279285
|
|
NM_000127.3(EXT1):c.962+5G>C
|
|
|
NM_000127.3(EXT1):c.962+7G>A
|
rs778490814
|
|
NM_000127.3(EXT1):c.962+8_962+11del
|
rs138812713
|
|
NM_000127.3(EXT1):c.962A>G (p.Lys321Arg)
|
|
|
NM_000127.3(EXT1):c.963-13C>T
|
|
|
NM_000127.3(EXT1):c.963-14T>G
|
|
|
NM_000127.3(EXT1):c.963-15C>T
|
|
|
NM_000127.3(EXT1):c.963-2A>G
|
rs1554580162
|
|
NM_000127.3(EXT1):c.963-7dup
|
rs2129791582
|
|
NM_000127.3(EXT1):c.963G>A (p.Lys321=)
|
|
|
NM_000127.3(EXT1):c.969T>C (p.Asp323=)
|
|
|
NM_000127.3(EXT1):c.96G>A (p.Arg32=)
|
|
|
NM_000127.3(EXT1):c.976del (p.Glu326fs)
|
|
|
NM_000127.3(EXT1):c.978A>G (p.Glu326=)
|
rs2129791475
|
|
NM_000127.3(EXT1):c.988_989insTC (p.Asn330fs)
|
rs1563575697
|
|
NM_000127.3(EXT1):c.98G>A (p.Ser33Asn)
|
|
|
NM_000127.3(EXT1):c.992C>A (p.Ala331Asp)
|
rs1554580153
|
|
NM_000127.3(EXT1):c.995_1000del (p.Thr332_Cys334delinsSer)
|
rs2129791337
|
|
NM_000127.3(EXT1):c.999C>A (p.Phe333Leu)
|
|
|
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.2294A>G (p.Asp765Gly)
|
rs1060502545
|
|
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_000222.3(KIT):c.2466T>A (p.Asn822Lys)
|
rs121913514
|
|
NM_000222.3(KIT):c.2466T>G (p.Asn822Lys)
|
rs121913514
|
|
NM_000222.3(KIT):c.2564A>G (p.Tyr855Cys)
|
rs1722933723
|
|
NM_000222.3(KIT):c.2887A>G (p.Thr963Ala)
|
rs773709702
|
|
NM_000222.3(KIT):c.302A>G (p.His101Arg)
|
rs1274601103
|
|
NM_000264.5(PTCH1):c.113G>A (p.Gly38Glu)
|
rs143494325
|
|
NM_000314.4(PTEN):c.-380_-378GGC[5]
|
|
|
NM_000314.8(PTEN):c.-326=
|
|
|
NM_000314.8(PTEN):c.-511G>A
|
rs12573787
|
|
NM_000314.8(PTEN):c.406T>C (p.Cys136Arg)
|
rs786201044
|
|
NM_000321.3(RB1):c.1215+1G>A
|
rs587776783
|
|
NM_000321.3(RB1):c.1333C>T (p.Arg445Ter)
|
rs3092891
|
|
NM_000321.3(RB1):c.1376C>T (p.Ser459Phe)
|
rs1593455667
|
|
NM_000321.3(RB1):c.276T>G (p.Ile92Met)
|
rs1555282772
|
|
NM_000321.3(RB1):c.485T>A (p.Phe162Tyr)
|
rs764881599
|
|
NM_000388.4(CASR):c.*1011T>A
|
rs922763349
|
|
NM_000388.4(CASR):c.*188dup
|
rs33974189
|
|
NM_000388.4(CASR):c.*60A>T
|
rs4677948
|
|
NM_000388.4(CASR):c.*640G>T
|
rs201855028
|
|
NM_000388.4(CASR):c.*790T>C
|
rs886057834
|
|
NM_000388.4(CASR):c.-137C>A
|
rs201074178
|
|
NM_000388.4(CASR):c.-378del
|
rs537119483
|
|
NM_000388.4(CASR):c.1008G>C (p.Lys336Asn)
|
rs548403340
|
|
NM_000388.4(CASR):c.101T>C (p.Leu34Pro)
|
rs1559955362
|
|
NM_000388.4(CASR):c.1116C>T (p.Thr372=)
|
rs539867627
|
|
NM_000388.4(CASR):c.1132G>A (p.Glu378Lys)
|
rs201338034
|
|
NM_000388.4(CASR):c.1163C>G (p.Ser388Trp)
|
rs377282860
|
|
NM_000388.4(CASR):c.1164G>A (p.Ser388=)
|
rs200898785
|
|
NM_000388.4(CASR):c.1287C>A (p.His429Gln)
|
rs746515147
|
|
NM_000388.4(CASR):c.1307C>G (p.Thr436Ser)
|
rs1553766916
|
|
NM_000388.4(CASR):c.130G>A (p.Val44Ile)
|
rs2074530467
|
|
NM_000388.4(CASR):c.1354A>G (p.Ile452Val)
|
rs756206452
|
|
NM_000388.4(CASR):c.1390C>G (p.Leu464Val)
|
rs778165189
|
|
NM_000388.4(CASR):c.1425G>T (p.Glu475Asp)
|
rs2107643445
|
|
NM_000388.4(CASR):c.1498G>A (p.Asp500Asn)
|
rs1156349993
|
|
NM_000388.4(CASR):c.1622A>G (p.Asn541Ser)
|
rs201202700
|
|
NM_000388.4(CASR):c.1665T>C (p.Ile555=)
|
rs201955278
|
|
NM_000388.4(CASR):c.1745G>A (p.Cys582Tyr)
|
rs104893690
|
|
NM_000388.4(CASR):c.1820C>T (p.Ser607Leu)
|
rs1052956823
|
|
NM_000388.4(CASR):c.183C>T (p.Ile61=)
|
rs2074531684
|
|
NM_000388.4(CASR):c.1842C>G (p.Ile614Met)
|
rs199513106
|
|
NM_000388.4(CASR):c.1853T>G (p.Leu618Arg)
|
rs2107649522
|
|
NM_000388.4(CASR):c.190A>G (p.Asn64Asp)
|
rs2107627423
|
|
NM_000388.4(CASR):c.1942C>T (p.Arg648Ter)
|
rs104893705
|
|
NM_000388.4(CASR):c.2009G>A (p.Gly670Glu)
|
rs104893700
|
|
NM_000388.4(CASR):c.2056A>G (p.Ile686Val)
|
rs753013993
|
|
NM_000388.4(CASR):c.205C>A (p.Arg69Ser)
|
|
|
NM_000388.4(CASR):c.2099A>G (p.Asn700Ser)
|
rs1576877437
|
|
NM_000388.4(CASR):c.209G>A (p.Trp70Ter)
|
rs2107627458
|
|
NM_000388.4(CASR):c.2101C>A (p.Arg701Ser)
|
rs757302986
|
|
NM_000388.4(CASR):c.2213T>C (p.Ile738Thr)
|
rs759337909
|
|
NM_000388.4(CASR):c.2241_2242delinsT (p.Pro748fs)
|
rs869320729
|
|
NM_000388.4(CASR):c.2278A>T (p.Ile760Phe)
|
rs1453953571
|
|
NM_000388.4(CASR):c.2339C>G (p.Thr780Ser)
|
rs754332943
|
|
NM_000388.4(CASR):c.2339C>T (p.Thr780Ile)
|
rs754332943
|
|
NM_000388.4(CASR):c.2439C>T (p.Ile813=)
|
rs1228810304
|
|
NM_000388.4(CASR):c.2449G>A (p.Val817Ile)
|
rs1057518933
|
|
NM_000388.4(CASR):c.2503G>A (p.Ala835Thr)
|
rs2074939751
|
|
NM_000388.4(CASR):c.2506G>T (p.Val836Leu)
|
rs2107650629
|
|
NM_000388.4(CASR):c.2549C>G (p.Ala850Gly)
|
rs373819680
|
|
NM_000388.4(CASR):c.2570T>A (p.Ile857Asn)
|
rs766445416
|
|
NM_000388.4(CASR):c.2686C>T (p.Arg896Cys)
|
rs749125441
|
|
NM_000388.4(CASR):c.2804_2836dup (p.Pro935_Gln945dup)
|
rs2074946020
|
|
NM_000388.4(CASR):c.280G>T (p.Gly94Ter)
|
rs104893709
|
|
NM_000388.4(CASR):c.2980C>T (p.His994Tyr)
|
rs1559969980
|
|
NM_000388.4(CASR):c.2990C>A (p.Ser997Tyr)
|
rs1244383237
|
|
NM_000388.4(CASR):c.3234A>G (p.Ser1078=)
|
rs556263764
|
|
NM_000388.4(CASR):c.3234A>T (p.Ser1078=)
|
rs556263764
|
|
NM_000388.4(CASR):c.374T>C (p.Leu125Pro)
|
rs104893708
|
|
NM_000388.4(CASR):c.379G>A (p.Glu127Lys)
|
rs2074565202
|
|
NM_000388.4(CASR):c.380A>C (p.Glu127Ala)
|
rs121909260
|
|
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.493-12G>T
|
rs199514129
|
|
NM_000388.4(CASR):c.493-2A>C
|
rs1576857818
|
|
NM_000388.4(CASR):c.494T>G (p.Val165Gly)
|
rs1559958757
|
|
NM_000388.4(CASR):c.54T>G (p.Ser18=)
|
rs558522564
|
|
NM_000388.4(CASR):c.553C>T (p.Arg185Ter)
|
rs104893707
|
|
NM_000388.4(CASR):c.554G>A (p.Arg185Gln)
|
rs104893689
|
|
NM_000388.4(CASR):c.653A>G (p.Tyr218Cys)
|
rs2074624616
|
|
NM_000388.4(CASR):c.658C>T (p.Arg220Trp)
|
rs1482119762
|
|
NM_000388.4(CASR):c.662C>T (p.Pro221Leu)
|
rs397514728
|
|
NM_000388.4(CASR):c.679C>T (p.Arg227Ter)
|
rs1085307984
|
|
NM_000388.4(CASR):c.680G>A (p.Arg227Gln)
|
rs28936684
|
|
NM_000388.4(CASR):c.680G>T (p.Arg227Leu)
|
rs28936684
|
|
NM_000388.4(CASR):c.788C>T (p.Thr263Met)
|
rs201456938
|
|
NM_000388.4(CASR):c.78C>G (p.Ala26=)
|
rs77852524
|
|
NM_000388.4(CASR):c.856C>T (p.Arg286Cys)
|
rs1060502843
|
|
NM_000388.4(CASR):c.865A>G (p.Thr289Ala)
|
rs1559959294
|
|
NM_000388.4(CASR):c.876C>T (p.Ile292=)
|
rs772232871
|
|
NM_000388.4(CASR):c.889G>A (p.Glu297Lys)
|
rs121909259
|
|
NM_000388.4:c.2628_2629insAlu
|
|
|
NM_000400.4(ERCC2):c.1361TCA[2] (p.Ile456del)
|
rs750123656
|
|
NM_000459.5(TEK):c.2228G>C (p.Gly743Ala)
|
rs202131936
|
|
NM_000489.6(ATRX):c.7156C>T (p.Arg2386Ter)
|
rs122445099
|
|
NM_000516.5:c.(?_-424)_(257_?)dup
|
|
|
NM_000516.7(GNAS):c.1A>G (p.Met1Val)
|
rs137854530
|
|
NM_000516.7(GNAS):c.348dup (p.Val117fs)
|
rs2090848106
|
|
NM_000516.7(GNAS):c.34C>T (p.Gln12Ter)
|
rs797045046
|
|
NM_000516.7(GNAS):c.432C>T (p.Pro144=)
|
rs11554266
|
|
NM_000516.7(GNAS):c.565_568del (p.Asp189fs)
|
rs587776829
|
|
NM_000516.7(GNAS):c.680A>G (p.Gln227Arg)
|
rs121913494
|
|
NM_000516.7(GNAS):c.681G>C (p.Gln227His)
|
rs137854533
|
|
NM_000516.7(GNAS):c.691C>T (p.Arg231Cys)
|
rs1601162438
|
|
NM_000516.7(GNAS):c.75G>A (p.Lys25=)
|
rs1326256762
|
|
NM_000516.7(GNAS):c.85C>T (p.Gln29Ter)
|
rs1057518907
|
|
NM_000516.7(GNAS):c.91C>T (p.Gln31Ter)
|
rs2089384365
|
|
NM_000516.7(GNAS):c.985G>A (p.Gly329Arg)
|
rs1394557997
|
|
NM_000546.6(TP53):c.-29+4907G>T
|
|
|
NM_000546.6(TP53):c.-29+4908G>C
|
|
|
NM_000546.6(TP53):c.-29+4914G>T
|
|
|
NM_000546.6(TP53):c.-29+4915del
|
|
|
NM_000546.6(TP53):c.-29+4952G>C
|
|
|
NM_000546.6(TP53):c.-29+5027A>T
|
|
|
NM_000546.6(TP53):c.-29+5029A>G
|
|
|
NM_000546.6(TP53):c.-29+5139C>A
|
|
|
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter)
|
rs730882029
|
|
NM_000546.6(TP53):c.323_329dup (p.Leu111fs)
|
rs1131691004
|
|
NM_000546.6(TP53):c.331del (p.Leu111fs)
|
rs2151039122
|
|
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.389T>C (p.Leu130Pro)
|
rs1131691013
|
|
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.449C>T (p.Thr150Ile)
|
rs2151032692
|
|
NM_000546.6(TP53):c.475_481dup (p.Ala161fs)
|
rs863223301
|
|
NM_000546.6(TP53):c.494A>T (p.Gln165Leu)
|
|
|
NM_000546.6(TP53):c.513G>T (p.Glu171Asp)
|
|
|
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>A (p.His179Gln)
|
rs876660821
|
|
NM_000546.6(TP53):c.537T>G (p.His179Gln)
|
rs876660821
|
|
NM_000546.6(TP53):c.549A>T (p.Ser183=)
|
|
|
NM_000546.6(TP53):c.559+1G>A
|
rs1131691042
|
|
NM_000546.6(TP53):c.576del (p.Gln192fs)
|
|
|
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.636del (p.Arg213fs)
|
rs864309495
|
|
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.677G>C (p.Gly226Ala)
|
rs970212462
|
|
NM_000546.6(TP53):c.710T>A (p.Met237Lys)
|
rs765848205
|
|
NM_000546.6(TP53):c.719G>A (p.Ser240Asn)
|
|
|
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.752T>A (p.Ile251Asn)
|
rs730882027
|
|
NM_000546.6(TP53):c.761T>C (p.Ile254Thr)
|
|
|
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.805A>T (p.Ser269Cys)
|
|
|
NM_000546.6(TP53):c.806G>T (p.Ser269Ile)
|
|
|
NM_000546.6(TP53):c.817C>A (p.Arg273Ser)
|
rs121913343
|
|
NM_000546.6(TP53):c.817C>G (p.Arg273Gly)
|
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.845G>C (p.Arg282Pro)
|
rs730882008
|
|
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.952C>T (p.Pro318Ser)
|
|
|
NM_000546.6(TP53):c.954A>T (p.Pro318=)
|
|
|
NM_000546.6(TP53):c.96+1G>T
|
rs1131691003
|
|
NM_000546.6(TP53):c.969G>C (p.Leu323=)
|
|
|
NM_000546.6(TP53):c.970G>A (p.Asp324Asn)
|
|
|
NM_000546.6(TP53):c.977A>T (p.Glu326Val)
|
|
|
NM_000546.6(TP53):c.978A>G (p.Glu326=)
|
|
|
NM_000546.6(TP53):c.993+13G>A
|
rs369599972
|
|
NM_000546.6(TP53):c.993+44C>A
|
|
|
NM_000546.6(TP53):c.993+86del
|
|
|
NM_000548.5(TSC2):c.2764_2765del (p.Leu922fs)
|
rs1555508929
|
|
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.1002C>G (p.Ile334Met)
|
rs2143873647
|
|
NM_001042492.3(NF1):c.1020dup (p.Val341fs)
|
rs1555610905
|
|
NM_001042492.3(NF1):c.1062+1G>A
|
rs1597681200
|
|
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.1120del (p.Asp374fs)
|
|
|
NM_001042492.3(NF1):c.1185+1G>A
|
rs864622161
|
|
NM_001042492.3(NF1):c.1185+20T>G
|
rs2066522265
|
|
NM_001042492.3(NF1):c.1186-6C>T
|
rs200684215
|
|
NM_001042492.3(NF1):c.1186A>C (p.Ile396Leu)
|
rs1413735911
|
|
NM_001042492.3(NF1):c.1246C>T (p.Arg416Ter)
|
rs764079291
|
|
NM_001042492.3(NF1):c.1264G>T (p.Ala422Ser)
|
rs786202145
|
|
NM_001042492.3(NF1):c.1322A>G (p.Asn441Ser)
|
rs370020114
|
|
NM_001042492.3(NF1):c.1355A>T (p.Gln452Leu)
|
rs2066621372
|
|
NM_001042492.3(NF1):c.1361G>A (p.Cys454Tyr)
|
rs983914251
|
|
NM_001042492.3(NF1):c.1370A>T (p.His457Leu)
|
rs786202763
|
|
NM_001042492.3(NF1):c.1381C>T (p.Arg461Ter)
|
rs878853865
|
|
NM_001042492.3(NF1):c.1392+5G>A
|
rs199999754
|
|
NM_001042492.3(NF1):c.146del (p.Tyr49fs)
|
|
|
NM_001042492.3(NF1):c.1509T>C (p.Asp503=)
|
rs1597698493
|
|
NM_001042492.3(NF1):c.1541A>G (p.Gln514Arg)
|
rs775369084
|
|
NM_001042492.3(NF1):c.1555del (p.Gln519fs)
|
rs2066874267
|
|
NM_001042492.3(NF1):c.1564dup (p.Thr522fs)
|
rs2066874810
|
|
NM_001042492.3(NF1):c.1583G>A (p.Gly528Glu)
|
|
|
NM_001042492.3(NF1):c.1595T>G (p.Leu532Arg)
|
rs199474737
|
|
NM_001042492.3(NF1):c.15G>T (p.Arg5Ser)
|
rs1567786804
|
|
NM_001042492.3(NF1):c.1600C>T (p.Pro534Ser)
|
rs1555612858
|
|
NM_001042492.3(NF1):c.1621A>G (p.Ile541Val)
|
rs876660632
|
|
NM_001042492.3(NF1):c.1633G>T (p.Ala545Ser)
|
|
|
NM_001042492.3(NF1):c.1636A>G (p.Met546Val)
|
rs2066877456
|
|
NM_001042492.3(NF1):c.1642-8A>G
|
rs267606602
|
|
NM_001042492.3(NF1):c.1661A>G (p.Gln554Arg)
|
rs863224656
|
|
NM_001042492.3(NF1):c.1675G>A (p.Asp559Asn)
|
rs2144004244
|
|
NM_001042492.3(NF1):c.1721+3A>G
|
rs1057518904
|
|
NM_001042492.3(NF1):c.1721+6T>C
|
rs2144005065
|
|
NM_001042492.3(NF1):c.1722-13T>G
|
|
|
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs)
|
rs786202782
|
|
NM_001042492.3(NF1):c.1771C>G (p.Leu591Val)
|
rs767247726
|
|
NM_001042492.3(NF1):c.1776del (p.Ser592fs)
|
|
|
NM_001042492.3(NF1):c.17C>T (p.Pro6Leu)
|
rs864622210
|
|
NM_001042492.3(NF1):c.1802G>A (p.Arg601Gln)
|
rs1060500288
|
|
NM_001042492.3(NF1):c.1846C>T (p.Gln616Ter)
|
rs1555613543
|
|
NM_001042492.3(NF1):c.1866T>A (p.Cys622Ter)
|
rs753245823
|
|
NM_001042492.3(NF1):c.1876del (p.Leu626fs)
|
rs1597710409
|
|
NM_001042492.3(NF1):c.1882_1884delinsAA (p.Tyr628fs)
|
|
|
NM_001042492.3(NF1):c.1892G>A (p.Gly631Glu)
|
rs876660272
|
|
NM_001042492.3(NF1):c.1919C>T (p.Thr640Ile)
|
rs1555613573
|
|
NM_001042492.3(NF1):c.1940A>C (p.His647Pro)
|
rs1170252879
|
|
NM_001042492.3(NF1):c.1981G>A (p.Gly661Arg)
|
rs2066993430
|
|
NM_001042492.3(NF1):c.1997_1998del (p.Ser666fs)
|
|
|
NM_001042492.3(NF1):c.2001+11_2001+13del
|
rs750468034
|
|
NM_001042492.3(NF1):c.2001+5G>T
|
rs2144028091
|
|
NM_001042492.3(NF1):c.2012C>G (p.Ala671Gly)
|
rs760900648
|
|
NM_001042492.3(NF1):c.2015G>T (p.Gly672Val)
|
rs371817372
|
|
NM_001042492.3(NF1):c.2033del (p.Pro678fs)
|
rs587781807
|
|
NM_001042492.3(NF1):c.2033dup (p.Ile679fs)
|
rs587781807
|
|
NM_001042492.3(NF1):c.2128_2142del (p.Phe710_Cys714del)
|
|
|
NM_001042492.3(NF1):c.2158C>T (p.Arg720Trp)
|
rs759679443
|
|
NM_001042492.3(NF1):c.2182_2196delinsT (p.Val728fs)
|
rs1597712665
|
|
NM_001042492.3(NF1):c.2186A>C (p.His729Pro)
|
|
|
NM_001042492.3(NF1):c.2188A>C (p.Asn730His)
|
rs758893131
|
|
NM_001042492.3(NF1):c.2204A>C (p.Tyr735Ser)
|
|
|
NM_001042492.3(NF1):c.2204A>G (p.Tyr735Cys)
|
|
|
NM_001042492.3(NF1):c.2233A>G (p.Ser745Gly)
|
rs786201865
|
|
NM_001042492.3(NF1):c.2236A>G (p.Asn746Asp)
|
rs2151426135
|
|
NM_001042492.3(NF1):c.2244G>A (p.Met748Ile)
|
rs786202478
|
|
NM_001042492.3(NF1):c.2252-18G>C
|
rs754583248
|
|
NM_001042492.3(NF1):c.2266C>T (p.Gln756Ter)
|
rs1567847905
|
|
NM_001042492.3(NF1):c.2276_2291del (p.Val759fs)
|
|
|
NM_001042492.3(NF1):c.2281G>A (p.Ala761Thr)
|
rs786202504
|
|
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.2325+4T>C
|
rs1555613934
|
|
NM_001042492.3(NF1):c.2326-5T>G
|
|
|
NM_001042492.3(NF1):c.2339C>G (p.Thr780Arg)
|
rs199474746
|
|
NM_001042492.3(NF1):c.234T>A (p.Asn78Lys)
|
rs876658354
|
|
NM_001042492.3(NF1):c.2360CAA[1] (p.Thr788del)
|
|
|
NM_001042492.3(NF1):c.2371A>C (p.Ile791Leu)
|
|
|
NM_001042492.3(NF1):c.2410-12T>G
|
rs876657932
|
|
NM_001042492.3(NF1):c.2410-5T>A
|
rs2151428754
|
|
NM_001042492.3(NF1):c.2431A>G (p.Thr811Ala)
|
|
|
NM_001042492.3(NF1):c.2440A>G (p.Lys814Glu)
|
rs1555614184
|
|
NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter)
|
rs886041347
|
|
NM_001042492.3(NF1):c.2495A>G (p.Asp832Gly)
|
rs1060500283
|
|
NM_001042492.3(NF1):c.2497T>C (p.Ser833Pro)
|
|
|
NM_001042492.3(NF1):c.2518A>G (p.Met840Val)
|
rs779931789
|
|
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro)
|
rs199474747
|
|
NM_001042492.3(NF1):c.2543G>A (p.Gly848Glu)
|
rs199474748
|
|
NM_001042492.3(NF1):c.2569A>G (p.Asn857Asp)
|
|
|
NM_001042492.3(NF1):c.2576del (p.Gly859fs)
|
|
|
NM_001042492.3(NF1):c.2582C>A (p.Ala861Glu)
|
rs1555614266
|
|
NM_001042492.3(NF1):c.2586C>T (p.Thr862=)
|
rs1567848941
|
|
NM_001042492.3(NF1):c.2641A>G (p.Met881Val)
|
rs1060500263
|
|
NM_001042492.3(NF1):c.2663A>G (p.Asp888Gly)
|
|
|
NM_001042492.3(NF1):c.2666C>T (p.Thr889Ile)
|
|
|
NM_001042492.3(NF1):c.2668C>A (p.Pro890Thr)
|
rs771012891
|
|
NM_001042492.3(NF1):c.2671G>C (p.Val891Leu)
|
rs1060500256
|
|
NM_001042492.3(NF1):c.2674A>T (p.Ser892Cys)
|
rs746324091
|
|
NM_001042492.3(NF1):c.2682del (p.Phe894fs)
|
|
|
NM_001042492.3(NF1):c.2693T>C (p.Leu898Pro)
|
rs199474786
|
|
NM_001042492.3(NF1):c.2694G>A (p.Leu898=)
|
rs1060503923
|
|
NM_001042492.3(NF1):c.2709G>A (p.Val903=)
|
rs771820789
|
|
NM_001042492.3(NF1):c.2783C>T (p.Ala928Val)
|
rs2067073386
|
|
NM_001042492.3(NF1):c.2825G>C (p.Ser942Thr)
|
rs1555614350
|
|
NM_001042492.3(NF1):c.2842del (p.Gln948fs)
|
rs1555614354
|
|
NM_001042492.3(NF1):c.2848C>G (p.Gln950Glu)
|
|
|
NM_001042492.3(NF1):c.2850+1G>C
|
|
|
NM_001042492.3(NF1):c.2851-1G>C
|
rs1597716274
|
|
NM_001042492.3(NF1):c.2851-3del
|
rs876660379
|
|
NM_001042492.3(NF1):c.2851-6_2851-3del
|
rs1597716256
|
|
NM_001042492.3(NF1):c.2867C>G (p.Thr956Ser)
|
rs1323973848
|
|
NM_001042492.3(NF1):c.288+6T>A
|
|
|
NM_001042492.3(NF1):c.289-2A>G
|
rs2143670119
|
|
NM_001042492.3(NF1):c.289-6T>C
|
rs757074803
|
|
NM_001042492.3(NF1):c.2896G>C (p.Ala966Pro)
|
|
|
NM_001042492.3(NF1):c.2899A>G (p.Ile967Val)
|
rs876660279
|
|
NM_001042492.3(NF1):c.2952del (p.Gln985fs)
|
rs1555614453
|
|
NM_001042492.3(NF1):c.2970_2971del (p.Met991fs)
|
rs1597716432
|
|
NM_001042492.3(NF1):c.2970_2972del (p.Met992del)
|
rs267606606
|
|
NM_001042492.3(NF1):c.2990G>A (p.Arg997Lys)
|
rs1555614462
|
|
NM_001042492.3(NF1):c.2991-1G>A
|
rs1060500273
|
|
NM_001042492.3(NF1):c.2991-1G>C
|
rs1060500273
|
|
NM_001042492.3(NF1):c.2993A>G (p.Tyr998Cys)
|
rs1555614496
|
|
NM_001042492.3(NF1):c.2999G>T (p.Arg1000Leu)
|
rs753082620
|
|
NM_001042492.3(NF1):c.3055G>A (p.Val1019Ile)
|
rs1567849826
|
|
NM_001042492.3(NF1):c.3069G>A (p.Met1023Ile)
|
rs2151431668
|
|
NM_001042492.3(NF1):c.3140A>G (p.Asp1047Gly)
|
rs1555614631
|
|
NM_001042492.3(NF1):c.3157T>C (p.Ser1053Pro)
|
|
|
NM_001042492.3(NF1):c.3169G>A (p.Ala1057Thr)
|
rs1367746167
|
|
NM_001042492.3(NF1):c.3198-2A>G
|
rs1131691089
|
|
NM_001042492.3(NF1):c.319dup (p.Thr107fs)
|
|
|
NM_001042492.3(NF1):c.3223_3225delinsAGG (p.Ala1075Arg)
|
|
|
NM_001042492.3(NF1):c.3251C>T (p.Pro1084Leu)
|
rs1164081667
|
|
NM_001042492.3(NF1):c.3302A>G (p.Gln1101Arg)
|
|
|
NM_001042492.3(NF1):c.3314+2T>G
|
rs863224445
|
|
NM_001042492.3(NF1):c.3375G>A (p.Ala1125=)
|
rs112589561
|
|
NM_001042492.3(NF1):c.3406C>T (p.Arg1136Trp)
|
rs1341314304
|
|
NM_001042492.3(NF1):c.3445A>G (p.Met1149Val)
|
rs1187097568
|
|
NM_001042492.3(NF1):c.3447G>T (p.Met1149Ile)
|
rs1064794277
|
|
NM_001042492.3(NF1):c.3457_3460del (p.Leu1153fs)
|
rs1321848637
|
|
NM_001042492.3(NF1):c.3467A>G (p.Asn1156Ser)
|
rs199474764
|
|
NM_001042492.3(NF1):c.3496+14A>G
|
rs2151434934
|
|
NM_001042492.3(NF1):c.3524C>T (p.Thr1175Ile)
|
rs1555615024
|
|
NM_001042492.3(NF1):c.3611G>T (p.Arg1204Leu)
|
rs1057521848
|
|
NM_001042492.3(NF1):c.3628G>T (p.Glu1210Ter)
|
rs2151435633
|
|
NM_001042492.3(NF1):c.3646G>T (p.Gly1216Cys)
|
rs1567851424
|
|
NM_001042492.3(NF1):c.3671C>T (p.Ala1224Val)
|
rs1060500340
|
|
NM_001042492.3(NF1):c.3674T>C (p.Met1225Thr)
|
|
|
NM_001042492.3(NF1):c.3682del (p.Ala1228fs)
|
|
|
NM_001042492.3(NF1):c.3686_3690del (p.Asn1229fs)
|
|
|
NM_001042492.3(NF1):c.3691G>A (p.Val1231Ile)
|
|
|
NM_001042492.3(NF1):c.3721C>G (p.Arg1241Gly)
|
rs137854562
|
|
NM_001042492.3(NF1):c.3721C>T (p.Arg1241Ter)
|
rs137854562
|
|
NM_001042492.3(NF1):c.373C>T (p.Arg125Cys)
|
rs876659418
|
|
NM_001042492.3(NF1):c.3779T>C (p.Met1260Thr)
|
rs1555615463
|
|
NM_001042492.3(NF1):c.378A>C (p.Glu126Asp)
|
rs786201914
|
|
NM_001042492.3(NF1):c.3797A>G (p.Glu1266Gly)
|
|
|
NM_001042492.3(NF1):c.3811A>C (p.Met1271Leu)
|
rs746583007
|
|
NM_001042492.3(NF1):c.3814C>T (p.Gln1272Ter)
|
rs2067188361
|
|
NM_001042492.3(NF1):c.3821T>C (p.Leu1274Pro)
|
|
|
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter)
|
rs199474742
|
|
NM_001042492.3(NF1):c.3835A>T (p.Ser1279Cys)
|
|
|
NM_001042492.3(NF1):c.3863G>A (p.Cys1288Tyr)
|
rs1597722661
|
|
NM_001042492.3(NF1):c.3870+1G>T
|
rs1131691075
|
|
NM_001042492.3(NF1):c.3878del (p.Gly1293fs)
|
|
|
NM_001042492.3(NF1):c.389A>T (p.His130Leu)
|
rs876660277
|
|
NM_001042492.3(NF1):c.3906T>C (p.Asp1302=)
|
rs549058591
|
|
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter)
|
rs376576925
|
|
NM_001042492.3(NF1):c.3921T>G (p.Ile1307Met)
|
rs876660805
|
|
NM_001042492.3(NF1):c.394G>A (p.Ala132Thr)
|
|
|
NM_001042492.3(NF1):c.3959A>C (p.Glu1320Ala)
|
rs1555615562
|
|
NM_001042492.3(NF1):c.4010G>A (p.Arg1337Gln)
|
rs1060500379
|
|
NM_001042492.3(NF1):c.4018C>G (p.Leu1340Val)
|
|
|
NM_001042492.3(NF1):c.4034A>G (p.Lys1345Arg)
|
|
|
NM_001042492.3(NF1):c.4070del (p.Phe1357fs)
|
rs1555617354
|
|
NM_001042492.3(NF1):c.4074C>A (p.Pro1358=)
|
rs757398594
|
|
NM_001042492.3(NF1):c.4074_4075delinsAA (p.Pro1359Thr)
|
rs1555617362
|
|
NM_001042492.3(NF1):c.4075C>A (p.Pro1359Thr)
|
rs745931495
|
|
NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter)
|
rs137854560
|
|
NM_001042492.3(NF1):c.4110+15A>G
|
rs1331795815
|
|
NM_001042492.3(NF1):c.4169A>G (p.Lys1390Arg)
|
|
|
NM_001042492.3(NF1):c.4186C>T (p.Arg1396Cys)
|
rs1555618495
|
|
NM_001042492.3(NF1):c.4195C>T (p.Gln1399Ter)
|
rs1131691072
|
|
NM_001042492.3(NF1):c.4197G>T (p.Gln1399His)
|
rs1355988609
|
|
NM_001042492.3(NF1):c.4201A>G (p.Ser1401Gly)
|
rs1060500310
|
|
NM_001042492.3(NF1):c.4219A>G (p.Ser1407Gly)
|
rs587781755
|
|
NM_001042492.3(NF1):c.4235G>T (p.Arg1412Ile)
|
|
|
NM_001042492.3(NF1):c.4239T>G (p.Phe1413Leu)
|
rs1597744644
|
|
NM_001042492.3(NF1):c.4315T>A (p.Leu1439Met)
|
rs1555618562
|
|
NM_001042492.3(NF1):c.4316T>G (p.Leu1439Trp)
|
rs1567862071
|
|
NM_001042492.3(NF1):c.4331A>G (p.Lys1444Arg)
|
rs199474781
|
|
NM_001042492.3(NF1):c.4332+1G>A
|
rs1555618572
|
|
NM_001042492.3(NF1):c.4340A>G (p.Gln1447Arg)
|
rs786204157
|
|
NM_001042492.3(NF1):c.4372GAA[1] (p.Glu1459del)
|
rs267606607
|
|
NM_001042492.3(NF1):c.4394A>G (p.Asn1465Ser)
|
rs786202492
|
|
NM_001042492.3(NF1):c.4405A>G (p.Lys1469Glu)
|
|
|
NM_001042492.3(NF1):c.4406_4418del (p.Lys1469fs)
|
rs1567862349
|
|
NM_001042492.3(NF1):c.4412A>G (p.Asn1471Ser)
|
rs876658250
|
|
NM_001042492.3(NF1):c.4437C>A (p.Phe1479Leu)
|
rs757953485
|
|
NM_001042492.3(NF1):c.4453G>T (p.Asp1485Tyr)
|
rs2067662991
|
|
NM_001042492.3(NF1):c.4462A>C (p.Thr1488Pro)
|
rs876660162
|
|
NM_001042492.3(NF1):c.4462A>G (p.Thr1488Ala)
|
rs876660162
|
|
NM_001042492.3(NF1):c.449del (p.Phe150fs)
|
rs1567817974
|
|
NM_001042492.3(NF1):c.4500T>C (p.Ser1500=)
|
rs775018971
|
|
NM_001042492.3(NF1):c.4501G>T (p.Asp1501Tyr)
|
|
|
NM_001042492.3(NF1):c.4505G>A (p.Gly1502Asp)
|
|
|
NM_001042492.3(NF1):c.4507A>C (p.Asn1503His)
|
rs1555618837
|
|
NM_001042492.3(NF1):c.452A>T (p.Asn151Ile)
|
|
|
NM_001042492.3(NF1):c.4536G>C (p.Trp1512Cys)
|
rs878853897
|
|
NM_001042492.3(NF1):c.4543C>T (p.Gln1515Ter)
|
rs1567862991
|
|
NM_001042492.3(NF1):c.454_458del (p.Ala152fs)
|
|
|
NM_001042492.3(NF1):c.4572C>A (p.Ser1524Arg)
|
rs1597747170
|
|
NM_001042492.3(NF1):c.4573A>G (p.Asn1525Asp)
|
rs1555618861
|
|
NM_001042492.3(NF1):c.4578-1G>A
|
rs1555618999
|
|
NM_001042492.3(NF1):c.4640G>A (p.Gly1547Asp)
|
rs2151466343
|
|
NM_001042492.3(NF1):c.4677G>A (p.Trp1559Ter)
|
rs137854555
|
|
NM_001042492.3(NF1):c.4681A>G (p.Ser1561Gly)
|
|
|
NM_001042492.3(NF1):c.469A>G (p.Ile157Val)
|
rs1555606118
|
|
NM_001042492.3(NF1):c.46C>G (p.Arg16Gly)
|
|
|
NM_001042492.3(NF1):c.4725-1G>A
|
rs1555619391
|
|
NM_001042492.3(NF1):c.4760del (p.Ala1586_Leu1587insTer)
|
rs2151470108
|
|
NM_001042492.3(NF1):c.479+5G>A
|
rs1567818033
|
|
NM_001042492.3(NF1):c.4796C>T (p.Ser1599Phe)
|
rs1555619407
|
|
NM_001042492.3(NF1):c.480-2746A>G
|
|
|
NM_001042492.3(NF1):c.4804G>A (p.Gly1602Arg)
|
rs878853898
|
|
NM_001042492.3(NF1):c.4831C>T (p.Arg1611Trp)
|
rs1060500316
|
|
NM_001042492.3(NF1):c.4832G>A (p.Arg1611Gln)
|
rs876659197
|
|
NM_001042492.3(NF1):c.4835+1G>T
|
rs1085307819
|
|
NM_001042492.3(NF1):c.4841A>G (p.Lys1614Arg)
|
|
|
NM_001042492.3(NF1):c.4856A>G (p.Asn1619Ser)
|
rs1466167635
|
|
NM_001042492.3(NF1):c.4872A>T (p.Ile1624=)
|
rs2151537601
|
|
NM_001042492.3(NF1):c.4903del (p.Tyr1635fs)
|
|
|
NM_001042492.3(NF1):c.4980dup (p.Lys1661Ter)
|
rs2069329774
|
|
NM_001042492.3(NF1):c.4986G>A (p.Trp1662Ter)
|
rs2151538007
|
|
NM_001042492.3(NF1):c.5029del (p.Val1677fs)
|
|
|
NM_001042492.3(NF1):c.5030TCTATA[1] (p.Ile1679_Tyr1680del)
|
rs1135402868
|
|
NM_001042492.3(NF1):c.5045_5046del (p.Asn1681_Cys1682insTer)
|
rs1597829906
|
|
NM_001042492.3(NF1):c.5078A>G (p.His1693Arg)
|
rs2151538392
|
|
NM_001042492.3(NF1):c.5084G>A (p.Arg1695Gln)
|
rs1555533367
|
|
NM_001042492.3(NF1):c.5146G>A (p.Ala1716Thr)
|
rs767469374
|
|
NM_001042492.3(NF1):c.5164G>A (p.Glu1722Lys)
|
|
|
NM_001042492.3(NF1):c.5191T>G (p.Leu1731Val)
|
rs876658602
|
|
NM_001042492.3(NF1):c.520G>A (p.Val174Ile)
|
rs1555607084
|
|
NM_001042492.3(NF1):c.520G>T (p.Val174Phe)
|
rs1555607084
|
|
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.5311A>G (p.Lys1771Glu)
|
rs1131691103
|
|
NM_001042492.3(NF1):c.5368G>T (p.Glu1790Ter)
|
rs1597831990
|
|
NM_001042492.3(NF1):c.5385T>A (p.Asp1795Glu)
|
rs1135402870
|
|
NM_001042492.3(NF1):c.541C>T (p.Gln181Ter)
|
rs753529924
|
|
NM_001042492.3(NF1):c.5450G>A (p.Cys1817Tyr)
|
rs1555533589
|
|
NM_001042492.3(NF1):c.5483G>A (p.Arg1828Gln)
|
rs876660298
|
|
NM_001042492.3(NF1):c.5489G>A (p.Arg1830His)
|
rs771529172
|
|
NM_001042492.3(NF1):c.5489G>T (p.Arg1830Leu)
|
rs771529172
|
|
NM_001042492.3(NF1):c.5503C>A (p.Gln1835Lys)
|
|
|
NM_001042492.3(NF1):c.5503C>T (p.Gln1835Ter)
|
rs786202177
|
|
NM_001042492.3(NF1):c.5533A>T (p.Ile1845Phe)
|
rs1567612641
|
|
NM_001042492.3(NF1):c.556G>T (p.Asp186Tyr)
|
rs1567820765
|
|
NM_001042492.3(NF1):c.5572G>A (p.Ala1858Thr)
|
rs786203416
|
|
NM_001042492.3(NF1):c.5590A>T (p.Ser1864Cys)
|
rs2151541898
|
|
NM_001042492.3(NF1):c.55G>T (p.Glu19Ter)
|
rs786203307
|
|
NM_001042492.3(NF1):c.5609G>A (p.Arg1870Gln)
|
rs786202112
|
|
NM_001042492.3(NF1):c.5629_5630del (p.Leu1877fs)
|
rs2069448326
|
|
NM_001042492.3(NF1):c.5652T>G (p.Phe1884Leu)
|
rs1567613616
|
|
NM_001042492.3(NF1):c.5729C>G (p.Ser1910Cys)
|
rs751904277
|
|
NM_001042492.3(NF1):c.5741C>A (p.Thr1914Lys)
|
rs1555533873
|
|
NM_001042492.3(NF1):c.5756A>T (p.Glu1919Val)
|
|
|
NM_001042492.3(NF1):c.5782G>T (p.Glu1928Ter)
|
rs786203896
|
|
NM_001042492.3(NF1):c.5812+2T>G
|
rs1555533887
|
|
NM_001042492.3(NF1):c.5812+489C>G
|
|
|
NM_001042492.3(NF1):c.5813-1042A>G
|
|
|
NM_001042492.3(NF1):c.5813-12A>G
|
rs768741646
|
|
NM_001042492.3(NF1):c.5813-1G>A
|
rs1057518974
|
|
NM_001042492.3(NF1):c.5861C>A (p.Ser1954Ter)
|
|
|
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter)
|
rs137854552
|
|
NM_001042492.3(NF1):c.5926G>C (p.Asp1976His)
|
|
|
NM_001042492.3(NF1):c.5935A>G (p.Ile1979Val)
|
rs775480099
|
|
NM_001042492.3(NF1):c.5991G>A (p.Trp1997Ter)
|
rs876660696
|
|
NM_001042492.3(NF1):c.6006+1G>A
|
rs1555534433
|
|
NM_001042492.3(NF1):c.6007-9_6007-7del
|
rs1274172088
|
|
NM_001042492.3(NF1):c.6031C>G (p.Leu2011Val)
|
rs1567616649
|
|
NM_001042492.3(NF1):c.6120T>C (p.Ser2040=)
|
rs2069671357
|
|
NM_001042492.3(NF1):c.6148-16T>G
|
rs769223408
|
|
NM_001042492.3(NF1):c.614A>G (p.Lys205Arg)
|
rs1555608659
|
|
NM_001042492.3(NF1):c.6175G>A (p.Asp2059Asn)
|
rs761029453
|
|
NM_001042492.3(NF1):c.6179_6183del (p.Lys2060fs)
|
|
|
NM_001042492.3(NF1):c.619G>T (p.Val207Phe)
|
|
|
NM_001042492.3(NF1):c.624G>A (p.Ala208=)
|
rs370184932
|
|
NM_001042492.3(NF1):c.6252C>A (p.Tyr2084Ter)
|
rs2069684411
|
|
NM_001042492.3(NF1):c.6275del (p.Asn2092fs)
|
rs1555534697
|
|
NM_001042492.3(NF1):c.6310T>C (p.Phe2104Leu)
|
rs876660000
|
|
NM_001042492.3(NF1):c.6398T>C (p.Leu2133Pro)
|
rs2069690617
|
|
NM_001042492.3(NF1):c.6428-7C>G
|
rs1597843613
|
|
NM_001042492.3(NF1):c.654+1G>T
|
rs1060500245
|
|
NM_001042492.3(NF1):c.6550G>A (p.Asp2184Asn)
|
rs1597843887
|
|
NM_001042492.3(NF1):c.6630G>C (p.Leu2210Phe)
|
rs886052801
|
|
NM_001042492.3(NF1):c.6637A>G (p.Met2213Val)
|
rs864622330
|
|
NM_001042492.3(NF1):c.6647G>T (p.Cys2216Phe)
|
rs1567617669
|
|
NM_001042492.3(NF1):c.6683A>G (p.Gln2228Arg)
|
|
|
NM_001042492.3(NF1):c.6687G>C (p.Trp2229Cys)
|
|
|
NM_001042492.3(NF1):c.6705-1G>C
|
rs1060500356
|
|
NM_001042492.3(NF1):c.6819+2T>C
|
rs1135402894
|
|
NM_001042492.3(NF1):c.6819+3del
|
rs2069728377
|
|
NM_001042492.3(NF1):c.6852_6855del (p.Tyr2285fs)
|
rs1555535032
|
|
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter)
|
rs772295894
|
|
NM_001042492.3(NF1):c.6862C>T (p.Gln2288Ter)
|
|
|
NM_001042492.3(NF1):c.6887T>C (p.Ile2296Thr)
|
rs1212022548
|
|
NM_001042492.3(NF1):c.688G>T (p.Glu230Ter)
|
rs2066138676
|
|
NM_001042492.3(NF1):c.6897del (p.Lys2300fs)
|
|
|
NM_001042492.3(NF1):c.6904C>T (p.Gln2302Ter)
|
rs1057518807
|
|
NM_001042492.3(NF1):c.6920A>G (p.Lys2307Arg)
|
rs765418194
|
|
NM_001042492.3(NF1):c.6921+1G>T
|
rs1060500355
|
|
NM_001042492.3(NF1):c.6922-1G>A
|
|
|
NM_001042492.3(NF1):c.6931C>G (p.Leu2311Val)
|
rs1044698498
|
|
NM_001042492.3(NF1):c.6948T>G (p.Phe2316Leu)
|
rs1597847958
|
|
NM_001042492.3(NF1):c.6970C>T (p.Gln2324Ter)
|
rs1131691073
|
|
NM_001042492.3(NF1):c.7018C>T (p.Gln2340Ter)
|
rs2069793099
|
|
NM_001042492.3(NF1):c.7027C>T (p.His2343Tyr)
|
rs781578248
|
|
NM_001042492.3(NF1):c.7049T>A (p.Ile2350Lys)
|
rs2069794814
|
|
NM_001042492.3(NF1):c.7062+12_7062+13del
|
rs753202735
|
|
NM_001042492.3(NF1):c.7063A>C (p.Ser2355Arg)
|
|
|
NM_001042492.3(NF1):c.7078T>C (p.Phe2360Leu)
|
rs2069866148
|
|
NM_001042492.3(NF1):c.7081A>G (p.Met2361Val)
|
rs1022562410
|
|
NM_001042492.3(NF1):c.7090C>T (p.Arg2364Trp)
|
rs1567620403
|
|
NM_001042492.3(NF1):c.7113C>T (p.Cys2371=)
|
rs2069867490
|
|
NM_001042492.3(NF1):c.7145del (p.Phe2382fs)
|
rs2151565168
|
|
NM_001042492.3(NF1):c.7162T>A (p.Phe2388Ile)
|
rs1425642121
|
|
NM_001042492.3(NF1):c.7162T>G (p.Phe2388Val)
|
|
|
NM_001042492.3(NF1):c.7194C>G (p.Tyr2398Ter)
|
rs2070073649
|
|
NM_001042492.3(NF1):c.7255_7256del (p.Leu2419fs)
|
rs1597858459
|
|
NM_001042492.3(NF1):c.7303_7304del (p.Ser2435fs)
|
rs1597858594
|
|
NM_001042492.3(NF1):c.731-16T>C
|
rs1227193781
|
|
NM_001042492.3(NF1):c.731-1G>C
|
rs1555608928
|
|
NM_001042492.3(NF1):c.7330dup (p.Thr2444fs)
|
rs1064794278
|
|
NM_001042492.3(NF1):c.7348C>T (p.Arg2450Ter)
|
rs786202457
|
|
NM_001042492.3(NF1):c.7368A>C (p.Lys2456Asn)
|
rs201287021
|
|
NM_001042492.3(NF1):c.7385T>C (p.Leu2462Pro)
|
rs1060500302
|
|
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.7391C>A (p.Thr2464Asn)
|
|
|
NM_001042492.3(NF1):c.7411G>A (p.Val2471Ile)
|
rs876660126
|
|
NM_001042492.3(NF1):c.7429C>T (p.Pro2477Ser)
|
rs876658722
|
|
NM_001042492.3(NF1):c.7446C>A (p.Asp2482Glu)
|
rs876660614
|
|
NM_001042492.3(NF1):c.7447C>T (p.Pro2483Ser)
|
rs1291550449
|
|
NM_001042492.3(NF1):c.7477C>T (p.Pro2493Ser)
|
rs2070167112
|
|
NM_001042492.3(NF1):c.7490C>T (p.Pro2497Leu)
|
rs1555536347
|
|
NM_001042492.3(NF1):c.7496G>A (p.Gly2499Asp)
|
rs375176282
|
|
NM_001042492.3(NF1):c.750dup (p.Asp251Ter)
|
|
|
NM_001042492.3(NF1):c.7513G>C (p.Ala2505Pro)
|
rs786202955
|
|
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter)
|
rs866445127
|
|
NM_001042492.3(NF1):c.757G>C (p.Val253Leu)
|
rs786203607
|
|
NM_001042492.3(NF1):c.7646C>G (p.Ser2549Ter)
|
|
|
NM_001042492.3(NF1):c.7693A>G (p.Thr2565Ala)
|
rs786202548
|
|
NM_001042492.3(NF1):c.7767G>C (p.Gln2589His)
|
rs587782168
|
|
NM_001042492.3(NF1):c.7768C>T (p.His2590Tyr)
|
rs1555536690
|
|
NM_001042492.3(NF1):c.7770C>A (p.His2590Gln)
|
rs1060503906
|
|
NM_001042492.3(NF1):c.7777_7778del (p.Leu2593fs)
|
|
|
NM_001042492.3(NF1):c.7781G>T (p.Arg2594Leu)
|
rs774781617
|
|
NM_001042492.3(NF1):c.7805A>G (p.Asn2602Ser)
|
rs2151582358
|
|
NM_001042492.3(NF1):c.7838C>A (p.Pro2613Gln)
|
rs750972729
|
|
NM_001042492.3(NF1):c.7846C>G (p.Gln2616Glu)
|
rs1555536713
|
|
NM_001042492.3(NF1):c.7894_7895del (p.Thr2631_Asp2632insTer)
|
|
|
NM_001042492.3(NF1):c.7895A>G (p.Asp2632Gly)
|
rs1597866846
|
|
NM_001042492.3(NF1):c.7899G>A (p.Glu2633=)
|
rs1597866857
|
|
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter)
|
rs786201367
|
|
NM_001042492.3(NF1):c.7915C>G (p.Leu2639Val)
|
rs1057518362
|
|
NM_001042492.3(NF1):c.7926C>A (p.Tyr2642Ter)
|
|
|
NM_001042492.3(NF1):c.7963C>A (p.Pro2655Thr)
|
rs587781791
|
|
NM_001042492.3(NF1):c.7971-321C>G
|
rs2070316606
|
|
NM_001042492.3(NF1):c.7971-8dup
|
rs564545012
|
|
NM_001042492.3(NF1):c.79C>T (p.Gln27Ter)
|
rs1060500363
|
|
NM_001042492.3(NF1):c.8011T>A (p.Leu2671Met)
|
rs2070326229
|
|
NM_001042492.3(NF1):c.8059_8060del (p.Ser2687fs)
|
rs1060500387
|
|
NM_001042492.3(NF1):c.8084C>T (p.Pro2695Leu)
|
rs2070328290
|
|
NM_001042492.3(NF1):c.8135G>A (p.Trp2712Ter)
|
|
|
NM_001042492.3(NF1):c.8136G>A (p.Trp2712Ter)
|
|
|
NM_001042492.3(NF1):c.8183C>T (p.Ala2728Val)
|
rs760973918
|
|
NM_001042492.3(NF1):c.8194del (p.Val2732fs)
|
|
|
NM_001042492.3(NF1):c.8222C>T (p.Thr2741Met)
|
rs144178015
|
|
NM_001042492.3(NF1):c.8244A>T (p.Glu2748Asp)
|
rs878853919
|
|
NM_001042492.3(NF1):c.8357C>T (p.Ala2786Val)
|
rs2070377037
|
|
NM_001042492.3(NF1):c.8362T>G (p.Ser2788Ala)
|
rs374004608
|
|
NM_001042492.3(NF1):c.8363C>T (p.Ser2788Phe)
|
rs1567628713
|
|
NM_001042492.3(NF1):c.8406C>T (p.Ser2802=)
|
rs1597883029
|
|
NM_001042492.3(NF1):c.8407C>G (p.Pro2803Ala)
|
rs779180729
|
|
NM_001042492.3(NF1):c.8421C>A (p.His2807Gln)
|
rs1326795798
|
|
NM_001042492.3(NF1):c.8421C>G (p.His2807Gln)
|
|
|
NM_001042492.3(NF1):c.8422T>C (p.Cys2808Arg)
|
rs1597883056
|
|
NM_001042492.3(NF1):c.8438C>T (p.Thr2813Ile)
|
|
|
NM_001042492.3(NF1):c.8475A>C (p.Arg2825Ser)
|
|
|
NM_001042492.3(NF1):c.8497A>C (p.Asn2833His)
|
rs786202863
|
|
NM_001042492.3(NF1):c.8503A>G (p.Ile2835Val)
|
rs2151601629
|
|
NM_001042492.3(NF1):c.862_868dup (p.Asp290delinsGlyGlyTer)
|
|
|
NM_001042492.3(NF1):c.885T>A (p.Asn295Lys)
|
rs864622300
|
|
NM_001042492.3(NF1):c.888+652G>A
|
|
|
NM_001042492.3(NF1):c.889-11_889-6delinsAAATT
|
rs2143871690
|
|
NM_001042492.3(NF1):c.889-21C>A
|
rs753797445
|
|
NM_001042492.3(NF1):c.889-2A>G
|
rs878853922
|
|
NM_001042492.3(NF1):c.889A>C (p.Lys297Gln)
|
rs786202384
|
|
NM_001042492.3(NF1):c.901G>A (p.Asp301Asn)
|
rs2066505718
|
|
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter)
|
rs786203950
|
|
NM_001042492.3(NF1):c.923C>G (p.Ala308Gly)
|
rs876660836
|
|
NM_001042492.3(NF1):c.952_953del (p.Glu318fs)
|
rs2066507116
|
|
NM_001042492.3(NF1):c.952del (p.Glu318fs)
|
rs1555610881
|
|
NM_001042492.3(NF1):c.965T>C (p.Ile322Thr)
|
rs1417994243
|
|
NM_001042492.3(NF1):c.966dup (p.Ala323fs)
|
|
|
NM_001042492.3(NF1):c.98A>G (p.Lys33Arg)
|
rs1555604887
|
|
NM_001099.5(ACP3):c.849CAT[1] (p.Ile284del)
|
rs864309497
|
|
NM_001123385.2(BCOR):c.4751del (p.Asn1584fs)
|
rs2146872060
|
|
NM_001127208.3(TET2):c.3782G>A (p.Arg1261His)
|
|
|
NM_001127208.3(TET2):c.5618T>C (p.Ile1873Thr)
|
|
|
NM_001146696.2(KDM4C):c.11A>G (p.Tyr4Cys)
|
|
|
NM_001195427.2(SRSF2):c.284C>G (p.Pro95Arg)
|
rs751713049
|
|
NM_001195427.2(SRSF2):c.284C>T (p.Pro95Leu)
|
|
|
NM_001195626.3(MLLT10):c.1226G>C (p.Gly409Ala)
|
rs150803413
|
|
NM_001283009.2(RTEL1):c.1135+1G>A
|
rs1555903332
|
|
NM_001288705.3(CSF1R):c.1711T>G (p.Tyr571Asp)
|
rs1057519802
|
|
NM_001346413.3(PCF11):c.3618del (p.Phe1206fs)
|
rs864309498
|
|
NM_001370259.2(MEN1):c.1212C>G (p.Leu404=)
|
rs577268289
|
|
NM_001370259.2(MEN1):c.1350+1G>A
|
rs863223311
|
|
NM_001370259.2(MEN1):c.1831T>A (p.Ter611Arg)
|
rs1565635212
|
|
NM_001370259.2(MEN1):c.913-79T>A
|
|
|
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.*83G>A
|
rs2145870845
|
|
NM_001754.5(RUNX1):c.1013C>T (p.Ala338Val)
|
rs1273605678
|
|
NM_001754.5(RUNX1):c.1036dup (p.Arg346fs)
|
rs1601333612
|
|
NM_001754.5(RUNX1):c.1166C>G (p.Ser389Trp)
|
|
|
NM_001754.5(RUNX1):c.1180G>A (p.Gly394Ser)
|
rs2056455422
|
|
NM_001754.5(RUNX1):c.1184C>G (p.Pro395Arg)
|
rs868527382
|
|
NM_001754.5(RUNX1):c.1191A>T (p.Gln397His)
|
rs1176713877
|
|
NM_001754.5(RUNX1):c.1197C>A (p.Ser399Arg)
|
rs1555884864
|
|
NM_001754.5(RUNX1):c.1219_1221delinsGGGATCGTTCGGA (p.Tyr407fs)
|
rs2145875208
|
|
NM_001754.5(RUNX1):c.1256_1262dup (p.Glu422fs)
|
|
|
NM_001754.5(RUNX1):c.1272G>C (p.Ser424=)
|
rs1459260782
|
|
NM_001754.5(RUNX1):c.1277C>G (p.Pro426Arg)
|
|
|
NM_001754.5(RUNX1):c.1318G>A (p.Ala440Thr)
|
|
|
NM_001754.5(RUNX1):c.1353C>A (p.Asp451Glu)
|
|
|
NM_001754.5(RUNX1):c.1367_1426dup (p.Glu456_Ala475dup)
|
rs2056446750
|
|
NM_001754.5(RUNX1):c.1409C>T (p.Ala470Val)
|
rs1601331921
|
|
NM_001754.5(RUNX1):c.161A>T (p.Glu54Val)
|
rs2058004521
|
|
NM_001754.5(RUNX1):c.164C>A (p.Ala55Glu)
|
rs1473182680
|
|
NM_001754.5(RUNX1):c.194C>T (p.Ala65Val)
|
rs2058002974
|
|
NM_001754.5(RUNX1):c.232A>C (p.Met78Leu)
|
|
|
NM_001754.5(RUNX1):c.267G>A (p.Leu89=)
|
rs2146409992
|
|
NM_001754.5(RUNX1):c.292del (p.Leu98fs)
|
rs1569084170
|
|
NM_001754.5(RUNX1):c.320G>A (p.Arg107His)
|
rs1569084106
|
|
NM_001754.5(RUNX1):c.331A>C (p.Thr111Pro)
|
rs1555899722
|
|
NM_001754.5(RUNX1):c.340A>G (p.Ile114Val)
|
rs2146407952
|
|
NM_001754.5(RUNX1):c.342C>G (p.Ile114Met)
|
|
|
NM_001754.5(RUNX1):c.386dup (p.Val130fs)
|
|
|
NM_001754.5(RUNX1):c.388G>A (p.Val130Ile)
|
|
|
NM_001754.5(RUNX1):c.422C>A (p.Ser141Ter)
|
|
|
NM_001754.5(RUNX1):c.463G>A (p.Val155Ile)
|
rs763464804
|
|
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.503G>T (p.Gly168Val)
|
rs2057884016
|
|
NM_001754.5(RUNX1):c.508+2T>C
|
rs1601515707
|
|
NM_001754.5(RUNX1):c.588del (p.Val197fs)
|
rs2057541271
|
|
NM_001754.5(RUNX1):c.601C>T (p.Arg201Ter)
|
rs1057519748
|
|
NM_001754.5(RUNX1):c.620G>A (p.Arg207Gln)
|
rs1229231012
|
|
NM_001754.5(RUNX1):c.671G>A (p.Arg224Gln)
|
rs754894156
|
|
NM_001754.5(RUNX1):c.694C>T (p.Arg232Trp)
|
|
|
NM_001754.5(RUNX1):c.70G>A (p.Gly24Arg)
|
rs1399187182
|
|
NM_001754.5(RUNX1):c.739C>T (p.Pro247Ser)
|
rs2057112093
|
|
NM_001754.5(RUNX1):c.82_84del (p.Ser28del)
|
rs775050403
|
|
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_001987.5(ETV6):c.1307_1308insGGG (p.His436delinsGlnGly)
|
rs587776710
|
|
NM_001987.5(ETV6):c.226G>T (p.Glu76Ter)
|
rs121434637
|
|
NM_001987.5(ETV6):c.641C>T (p.Pro214Leu)
|
rs724159947
|
|
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.151_186delinsT (p.Ser51fs)
|
rs2062674043
|
|
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.219del (p.Val74fs)
|
rs2062674491
|
|
NM_002049.4(GATA1):c.49_50del (p.Gln17fs)
|
rs2062673530
|
|
NM_002049.4(GATA1):c.4dup (p.Glu2fs)
|
rs2062673272
|
|
NM_002049.4(GATA1):c.89C>G (p.Ser30Ter)
|
rs1557020021
|
|
NM_002070.4(GNAI2):c.535C>G (p.Arg179Gly)
|
rs137853226
|
|
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.514A>G (p.Arg172Gly)
|
rs1057519906
|
|
NM_002168.4(IDH2):c.514A>T (p.Arg172Trp)
|
rs1057519906
|
|
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_002221.4(ITPKB):c.1222T>G (p.Ser408Ala)
|
|
|
NM_002221.4(ITPKB):c.1655C>A (p.Pro552Gln)
|
|
|
NM_002221.4(ITPKB):c.220G>A (p.Gly74Ser)
|
|
|
NM_002221.4(ITPKB):c.267CAGCGGCAG[1] (p.91GSS[1])
|
|
|
NM_002221.4(ITPKB):c.518G>A (p.Arg173His)
|
|
|
NM_002221.4(ITPKB):c.964G>A (p.Ala322Thr)
|
|
|
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_002451.4(MTAP):c.*1105del
|
rs200216058
|
|
NM_002451.4(MTAP):c.*1140A>G
|
rs886063785
|
|
NM_002451.4(MTAP):c.*1197C>G
|
rs886063786
|
|
NM_002451.4(MTAP):c.*1558G>C
|
rs989103885
|
|
NM_002451.4(MTAP):c.*15C>A
|
rs754086497
|
|
NM_002451.4(MTAP):c.*1608del
|
rs886063787
|
|
NM_002451.4(MTAP):c.*1621_*1622del
|
rs11358276
|
|
NM_002451.4(MTAP):c.*1622del
|
rs11358276
|
|
NM_002451.4(MTAP):c.*1668T>C
|
rs1040775189
|
|
NM_002451.4(MTAP):c.*1831T>A
|
rs886063789
|
|
NM_002451.4(MTAP):c.*1836C>G
|
rs768066844
|
|
NM_002451.4(MTAP):c.*2111A>G
|
rs1825809798
|
|
NM_002451.4(MTAP):c.*2171G>A
|
rs886063790
|
|
NM_002451.4(MTAP):c.*2279T>G
|
rs529226542
|
|
NM_002451.4(MTAP):c.*2333C>G
|
rs1587259830
|
|
NM_002451.4(MTAP):c.*2348dup
|
rs397972510
|
|
NM_002451.4(MTAP):c.*254A>T
|
rs897835622
|
|
NM_002451.4(MTAP):c.*258del
|
rs886063782
|
|
NM_002451.4(MTAP):c.*259C>A
|
rs78195856
|
|
NM_002451.4(MTAP):c.*2693G>A
|
rs1825822182
|
|
NM_002451.4(MTAP):c.*2740G>A
|
rs1460775302
|
|
NM_002451.4(MTAP):c.*303G>A
|
rs140440868
|
|
NM_002451.4(MTAP):c.*3656A>G
|
rs1825841895
|
|
NM_002451.4(MTAP):c.*3692G>A
|
rs1418873617
|
|
NM_002451.4(MTAP):c.*378T>C
|
rs886063783
|
|
NM_002451.4(MTAP):c.*3943G>A
|
rs886063794
|
|
NM_002451.4(MTAP):c.*775dup
|
rs58147941
|
|
NM_002451.4(MTAP):c.*795A>T
|
rs1317482370
|
|
NM_002451.4(MTAP):c.119A>G (p.Lys40Arg)
|
rs760959805
|
|
NM_002451.4(MTAP):c.187A>G (p.Arg63Gly)
|
rs886063781
|
|
NM_002520.7(NPM1):c.*101T>C
|
rs530255077
|
|
NM_002520.7(NPM1):c.*1del
|
rs2113301429
|
|
NM_002520.7(NPM1):c.*29A>T
|
rs200638434
|
|
NM_002520.7(NPM1):c.*2A>G
|
rs2113301446
|
|
NM_002520.7(NPM1):c.*33T>C
|
rs2113301714
|
|
NM_002520.7(NPM1):c.*73T>C
|
rs2113302170
|
|
NM_002520.7(NPM1):c.*75C>T
|
rs2113302182
|
|
NM_002520.7(NPM1):c.*76T>C
|
rs2113302197
|
|
NM_002520.7(NPM1):c.*80T>A
|
rs2113302213
|
|
NM_002520.7(NPM1):c.*81A>T
|
rs1271696160
|
|
NM_002520.7(NPM1):c.*98C>T
|
rs2113302335
|
|
NM_002520.7(NPM1):c.860_863dup (p.Trp288fs)
|
rs587776806
|
|
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_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.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_002609.4(PDGFRB):c.1751C>G (p.Pro584Arg)
|
rs863224946
|
|
NM_002609.4(PDGFRB):c.1997A>G (p.Asn666Ser)
|
rs2113894766
|
|
NM_002834.5(PTPN11):c.1052G>A (p.Arg351Gln)
|
rs397507534
|
|
NM_002834.5(PTPN11):c.1144G>A (p.Val382Ile)
|
rs1214510641
|
|
NM_002834.5(PTPN11):c.1221A>G (p.Gly407=)
|
rs532529560
|
|
NM_002834.5(PTPN11):c.1232C>T (p.Thr411Met)
|
rs121918467
|
|
NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala)
|
rs397507501
|
|
NM_002834.5(PTPN11):c.1261C>T (p.Arg421Trp)
|
rs1355732645
|
|
NM_002834.5(PTPN11):c.127C>G (p.Leu43Val)
|
rs1566164987
|
|
NM_002834.5(PTPN11):c.127C>T (p.Leu43Phe)
|
rs1566164987
|
|
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.1472C>T (p.Pro491Leu)
|
rs397507540
|
|
NM_002834.5(PTPN11):c.1498C>G (p.Gln500Glu)
|
rs2038714548
|
|
NM_002834.5(PTPN11):c.1504T>A (p.Ser502Thr)
|
rs121918458
|
|
NM_002834.5(PTPN11):c.1504T>G (p.Ser502Ala)
|
rs121918458
|
|
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg)
|
rs397507545
|
|
NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg)
|
rs397507545
|
|
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val)
|
rs397507547
|
|
NM_002834.5(PTPN11):c.1530G>C (p.Gln510His)
|
rs397507550
|
|
NM_002834.5(PTPN11):c.1685C>T (p.Pro562Leu)
|
rs2038884191
|
|
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp)
|
rs397507505
|
|
NM_002834.5(PTPN11):c.174C>G (p.Asn58Lys)
|
rs397507506
|
|
NM_002834.5(PTPN11):c.178G>A (p.Gly60Ser)
|
rs397507507
|
|
NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn)
|
rs397507510
|
|
NM_002834.5(PTPN11):c.181G>T (p.Asp61Tyr)
|
rs397507510
|
|
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly)
|
rs121918461
|
|
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp)
|
rs121918460
|
|
NM_002834.5(PTPN11):c.214G>A (p.Ala72Thr)
|
rs121918453
|
|
NM_002834.5(PTPN11):c.214G>T (p.Ala72Ser)
|
rs121918453
|
|
NM_002834.5(PTPN11):c.215C>A (p.Ala72Asp)
|
rs121918454
|
|
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly)
|
rs121918454
|
|
NM_002834.5(PTPN11):c.215C>T (p.Ala72Val)
|
rs121918454
|
|
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile)
|
rs121918462
|
|
NM_002834.5(PTPN11):c.222G>A (p.Leu74=)
|
rs1429492147
|
|
NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys)
|
rs121918464
|
|
NM_002834.5(PTPN11):c.227A>C (p.Glu76Ala)
|
rs121918465
|
|
NM_002834.5(PTPN11):c.227A>G (p.Glu76Gly)
|
rs121918465
|
|
NM_002834.5(PTPN11):c.227A>T (p.Glu76Val)
|
rs121918465
|
|
NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp)
|
rs397507514
|
|
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg)
|
rs121918466
|
|
NM_002834.5(PTPN11):c.289G>A (p.Glu97Lys)
|
rs397507516
|
|
NM_002834.5(PTPN11):c.329A>G (p.Glu110Gly)
|
rs397507519
|
|
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)
|
rs397507520
|
|
NM_002834.5(PTPN11):c.417G>T (p.Glu139Asp)
|
rs397507520
|
|
NM_002834.5(PTPN11):c.519C>G (p.Arg173=)
|
rs767425313
|
|
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile)
|
rs267606990
|
|
NM_002834.5(PTPN11):c.691C>T (p.Arg231Ter)
|
rs2038154558
|
|
NM_002834.5(PTPN11):c.762ACA[2] (p.Gln257del)
|
rs397507524
|
|
NM_002834.5(PTPN11):c.770A>G (p.Gln257Arg)
|
rs2038442309
|
|
NM_002834.5(PTPN11):c.787T>A (p.Tyr263Asn)
|
|
|
NM_002834.5(PTPN11):c.788A>G (p.Tyr263Cys)
|
rs763617831
|
|
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser)
|
rs397507527
|
|
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys)
|
rs121918456
|
|
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu)
|
rs397507531
|
|
NM_002834.5(PTPN11):c.853T>G (p.Phe285Val)
|
rs397507531
|
|
NM_002834.5(PTPN11):c.865A>G (p.Arg289Gly)
|
rs2135901005
|
|
NM_002834.5(PTPN11):c.923A>C (p.Asn308Thr)
|
rs121918455
|
|
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser)
|
rs121918455
|
|
NM_003025.4(SH3GL1):c.771C>G (p.Pro257=)
|
rs243261
|
|
NM_003048.6(SLC9A2):c.2173del (p.Gln725fs)
|
rs864309496
|
|
NM_003200.5(TCF3):c.1303C>G (p.Leu435Val)
|
|
|
NM_003200.5(TCF3):c.632C>A (p.Pro211His)
|
|
|
NM_003200.5(TCF3):c.760G>T (p.Gly254Cys)
|
|
|
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.-12C>G
|
rs551077555
|
|
NM_003977.4(AIP):c.-2G>C
|
rs377710724
|
|
NM_003977.4(AIP):c.-85C>T
|
rs1565180279
|
|
NM_003977.4(AIP):c.100-1025_279+357del
|
|
|
NM_003977.4(AIP):c.102C>G (p.Ala34=)
|
rs886048584
|
|
NM_003977.4(AIP):c.136G>A (p.Glu46Lys)
|
rs772580337
|
|
NM_003977.4(AIP):c.140_163del (p.Gly47_Arg54del)
|
rs267606537
|
|
NM_003977.4(AIP):c.151G>A (p.Asp51Asn)
|
rs1591042638
|
|
NM_003977.4(AIP):c.164C>T (p.Ala55Val)
|
rs1865805899
|
|
NM_003977.4(AIP):c.166C>A (p.Arg56Ser)
|
rs267606538
|
|
NM_003977.4(AIP):c.16G>A (p.Ala6Thr)
|
|
|
NM_003977.4(AIP):c.241C>T (p.Arg81Ter)
|
rs267606541
|
|
NM_003977.4(AIP):c.245_249del (p.Glu82fs)
|
rs267606542
|
|
NM_003977.4(AIP):c.249G>A (p.Gly83=)
|
rs104895072
|
|
NM_003977.4(AIP):c.249G>T (p.Gly83=)
|
rs104895072
|
|
NM_003977.4(AIP):c.250G>A (p.Glu84Lys)
|
rs267606543
|
|
NM_003977.4(AIP):c.261G>C (p.Gln87His)
|
rs767982777
|
|
NM_003977.4(AIP):c.279G>A (p.Lys93=)
|
|
|
NM_003977.4(AIP):c.280-1G>A
|
rs267606544
|
|
NM_003977.4(AIP):c.286_287del (p.Val96fs)
|
rs267606545
|
|
NM_003977.4(AIP):c.2T>C (p.Met1Thr)
|
rs267606546
|
|
NM_003977.4(AIP):c.301_423del (p.Val101_Leu141del)
|
|
|
NM_003977.4(AIP):c.308A>G (p.Lys103Arg)
|
rs267606548
|
|
NM_003977.4(AIP):c.350del (p.Gly117fs)
|
rs267606549
|
|
NM_003977.4(AIP):c.379A>G (p.Met127Val)
|
rs1591044815
|
|
NM_003977.4(AIP):c.3G>A (p.Met1Ile)
|
rs886037871
|
|
NM_003977.4(AIP):c.3_4insC (p.Ala2fs)
|
rs267606547
|
|
NM_003977.4(AIP):c.404del (p.His135fs)
|
rs267606551
|
|
NM_003977.4(AIP):c.424C>T (p.Gln142Ter)
|
rs267606552
|
|
NM_003977.4(AIP):c.429G>A (p.Gln143=)
|
rs267606553
|
|
NM_003977.4(AIP):c.468+16G>T
|
rs267607273
|
|
NM_003977.4(AIP):c.468+1G>A
|
rs267606554
|
|
NM_003977.4(AIP):c.469-1G>A
|
rs267606555
|
|
NM_003977.4(AIP):c.469-2A>G
|
rs267606556
|
|
NM_003977.4(AIP):c.474G>T (p.Glu158Asp)
|
rs1245383191
|
|
NM_003977.4(AIP):c.485C>T (p.Thr162Met)
|
rs764344774
|
|
NM_003977.4(AIP):c.490C>T (p.Gln164Ter)
|
rs104895073
|
|
NM_003977.4(AIP):c.500del (p.Pro167fs)
|
rs267606557
|
|
NM_003977.4(AIP):c.504_510del (p.Pro167_Trp168insTer)
|
|
|
NM_003977.4(AIP):c.521_525del (p.Glu174fs)
|
rs267606558
|
|
NM_003977.4(AIP):c.523A>C (p.Lys175Gln)
|
|
|
NM_003977.4(AIP):c.543del (p.Ile182fs)
|
rs267606559
|
|
NM_003977.4(AIP):c.550C>T (p.Gln184Ter)
|
rs267606560
|
|
NM_003977.4(AIP):c.601A>T (p.Lys201Ter)
|
rs267606563
|
|
NM_003977.4(AIP):c.619G>C (p.Ala207Pro)
|
|
|
NM_003977.4(AIP):c.646G>T (p.Glu216Ter)
|
rs267606565
|
|
NM_003977.4(AIP):c.649C>G (p.Gln217Glu)
|
|
|
NM_003977.4(AIP):c.649C>T (p.Gln217Ter)
|
rs267606566
|
|
NM_003977.4(AIP):c.64C>T (p.Arg22Ter)
|
rs121908357
|
|
NM_003977.4(AIP):c.660C>T (p.Ser220=)
|
rs776495655
|
|
NM_003977.4(AIP):c.662C>T (p.Pro221Leu)
|
rs1426023503
|
|
NM_003977.4(AIP):c.662dup (p.Pro221_Glu222insTer)
|
rs104895075
|
|
NM_003977.4(AIP):c.66_71del (p.Gly23_Glu24del)
|
rs267606567
|
|
NM_003977.4(AIP):c.70G>T (p.Glu24Ter)
|
rs267606568
|
|
NM_003977.4(AIP):c.713G>A (p.Cys238Tyr)
|
rs267606569
|
|
NM_003977.4(AIP):c.714C>T (p.Cys238=)
|
rs267606570
|
|
NM_003977.4(AIP):c.715C>T (p.Gln239Ter)
|
rs267606571
|
|
NM_003977.4(AIP):c.721A>T (p.Lys241Ter)
|
rs267606573
|
|
NM_003977.4(AIP):c.739TAC[1] (p.Tyr248del)
|
rs267606574
|
|
NM_003977.4(AIP):c.769A>G (p.Ile257Val)
|
rs267606575
|
|
NM_003977.4(AIP):c.787+10G>A
|
rs776322323
|
|
NM_003977.4(AIP):c.803A>G (p.Tyr268Cys)
|
rs267606577
|
|
NM_003977.4(AIP):c.804C>A (p.Tyr268Ter)
|
rs121908356
|
|
NM_003977.4(AIP):c.805_825dup (p.Phe269_His275dup)
|
rs267606578
|
|
NM_003977.4(AIP):c.807C>G (p.Phe269Leu)
|
|
|
NM_003977.4(AIP):c.811C>T (p.Arg271Trp)
|
rs267606579
|
|
NM_003977.4(AIP):c.824dup (p.His275fs)
|
rs267606580
|
|
NM_003977.4(AIP):c.829G>C (p.Ala277Pro)
|
rs267606581
|
|
NM_003977.4(AIP):c.844dup (p.Gln282fs)
|
|
|
NM_003977.4(AIP):c.854_857del (p.Gln285fs)
|
rs267606582
|
|
NM_003977.4(AIP):c.879G>T (p.Glu293Asp)
|
|
|
NM_003977.4(AIP):c.887C>A (p.Pro296Gln)
|
|
|
NM_003977.4(AIP):c.919dup (p.Arg307fs)
|
rs267606589
|
|
NM_003977.4(AIP):c.949G>T (p.Asp317Tyr)
|
rs145025838
|
|
NM_003977.4(AIP):c.950A>G (p.Asp317Gly)
|
|
|
NM_003977.4(AIP):c.987C>T (p.Ser329=)
|
rs267606587
|
|
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.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_2504delinsTT (p.Asp835Phe)
|
rs1057519763
|
|
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.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.2508C>G (p.Ile836Met)
|
rs121913232
|
|
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.2520_2521insGGATCC (p.Ser840_Asn841insGlySer)
|
rs398122514
|
|
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_004304.5(ALK):c.1517T>C (p.Leu506Pro)
|
rs762569153
|
|
NM_004304.5(ALK):c.164C>A (p.Ala55Glu)
|
rs1217013970
|
|
NM_004327.4(BCR):c.2707+21G>T
|
rs527236142
|
|
NM_004327.4(BCR):c.2750T>A (p.Val917Asp)
|
rs527236143
|
|
NM_004327.4(BCR):c.3275_3278dup (p.Val1094fs)
|
rs372013175
|
|
NM_004333.6(BRAF):c.1742A>G (p.Asn581Ser)
|
rs121913370
|
|
NM_004343.3(CALR):c.1092_1143del52 (p.Leu367Thrfs)
|
rs1555760738
|
|
NM_004364.5(CEBPA):c.*31G>C
|
rs2145257862
|
|
NM_004364.5(CEBPA):c.*6G>A
|
rs2145257960
|
|
NM_004364.5(CEBPA):c.*86C>T
|
rs991316142
|
|
NM_004364.5(CEBPA):c.*87G>A
|
rs1967150654
|
|
NM_004364.5(CEBPA):c.*93T>G
|
rs1600020107
|
|
NM_004364.5(CEBPA):c.1000G>A (p.Glu334Lys)
|
rs369632687
|
|
NM_004364.5(CEBPA):c.1000G>T (p.Glu334Ter)
|
|
|
NM_004364.5(CEBPA):c.1007A>G (p.Asp336Gly)
|
rs2145258387
|
|
NM_004364.5(CEBPA):c.1008C>T (p.Asp336=)
|
|
|
NM_004364.5(CEBPA):c.100C>T (p.Pro34Ser)
|
rs996435066
|
|
NM_004364.5(CEBPA):c.1011G>C (p.Thr337=)
|
|
|
NM_004364.5(CEBPA):c.1017G>C (p.Arg339=)
|
rs2145258335
|
|
NM_004364.5(CEBPA):c.1019G>C (p.Gly340Ala)
|
|
|
NM_004364.5(CEBPA):c.1020C>T (p.Gly340=)
|
rs1226278699
|
|
NM_004364.5(CEBPA):c.1024T>G (p.Phe342Val)
|
rs1967158283
|
|
NM_004364.5(CEBPA):c.1025dup (p.Arg343fs)
|
rs1967158182
|
|
NM_004364.5(CEBPA):c.1028G>A (p.Arg343His)
|
rs1264760427
|
|
NM_004364.5(CEBPA):c.1028_1029delinsTT (p.Arg343Leu)
|
rs1967157714
|
|
NM_004364.5(CEBPA):c.102C>A (p.Pro34=)
|
|
|
NM_004364.5(CEBPA):c.1032G>A (p.Gln344=)
|
rs1967157574
|
|
NM_004364.5(CEBPA):c.1035G>A (p.Leu345=)
|
|
|
NM_004364.5(CEBPA):c.1035G>T (p.Leu345=)
|
|
|
NM_004364.5(CEBPA):c.1037C>G (p.Pro346Arg)
|
rs1967157361
|
|
NM_004364.5(CEBPA):c.1039G>A (p.Glu347Lys)
|
rs1468313242
|
|
NM_004364.5(CEBPA):c.1039G>C (p.Glu347Gln)
|
|
|
NM_004364.5(CEBPA):c.103C>T (p.Arg35Trp)
|
rs1238054852
|
|
NM_004364.5(CEBPA):c.1043G>C (p.Ser348Thr)
|
rs2145258173
|
|
NM_004364.5(CEBPA):c.1044C>G (p.Ser348Arg)
|
|
|
NM_004364.5(CEBPA):c.1045T>A (p.Ser349Thr)
|
|
|
NM_004364.5(CEBPA):c.1045T>C (p.Ser349Pro)
|
rs1060502117
|
|
NM_004364.5(CEBPA):c.1046_1048del (p.Ser349del)
|
|
|
NM_004364.5(CEBPA):c.1047C>T (p.Ser349=)
|
|
|
NM_004364.5(CEBPA):c.104G>A (p.Arg35Gln)
|
rs1967200345
|
|
NM_004364.5(CEBPA):c.1050G>A (p.Leu350=)
|
|
|
NM_004364.5(CEBPA):c.1051G>C (p.Val351Leu)
|
rs373210526
|
|
NM_004364.5(CEBPA):c.1057G>A (p.Ala353Thr)
|
rs1317158199
|
|
NM_004364.5(CEBPA):c.1059C>T (p.Ala353=)
|
|
|
NM_004364.5(CEBPA):c.1060A>C (p.Met354Leu)
|
rs1060502122
|
|
NM_004364.5(CEBPA):c.1063G>A (p.Gly355Ser)
|
|
|
NM_004364.5(CEBPA):c.1064G>A (p.Gly355Asp)
|
rs1358286265
|
|
NM_004364.5(CEBPA):c.1064G>T (p.Gly355Val)
|
rs1358286265
|
|
NM_004364.5(CEBPA):c.1066A>T (p.Asn356Tyr)
|
rs543441756
|
|
NM_004364.5(CEBPA):c.1069T>A (p.Cys357Ser)
|
|
|
NM_004364.5(CEBPA):c.1069_*2del (p.Cys357fs)
|
|
|
NM_004364.5(CEBPA):c.106G>A (p.Gly36Ser)
|
rs1967200117
|
|
NM_004364.5(CEBPA):c.1070G>A (p.Cys357Tyr)
|
|
|
NM_004364.5(CEBPA):c.1071C>A (p.Cys357Ter)
|
|
|
NM_004364.5(CEBPA):c.1071C>G (p.Cys357Trp)
|
rs1162154287
|
|
NM_004364.5(CEBPA):c.1071C>T (p.Cys357=)
|
rs1162154287
|
|
NM_004364.5(CEBPA):c.1073C>T (p.Ala358Val)
|
rs577659401
|
|
NM_004364.5(CEBPA):c.1074G>A (p.Ala358=)
|
|
|
NM_004364.5(CEBPA):c.1074G>T (p.Ala358=)
|
rs2145257987
|
|
NM_004364.5(CEBPA):c.108C>A (p.Gly36=)
|
rs1399064538
|
|
NM_004364.5(CEBPA):c.109G>A (p.Ala37Thr)
|
rs1404014711
|
|
NM_004364.5(CEBPA):c.110C>T (p.Ala37Val)
|
|
|
NM_004364.5(CEBPA):c.111G>A (p.Ala37=)
|
rs1323312485
|
|
NM_004364.5(CEBPA):c.112G>A (p.Gly38Ser)
|
|
|
NM_004364.5(CEBPA):c.112G>T (p.Gly38Cys)
|
|
|
NM_004364.5(CEBPA):c.113G>A (p.Gly38Asp)
|
rs1967199337
|
|
NM_004364.5(CEBPA):c.114C>A (p.Gly38=)
|
rs1600024309
|
|
NM_004364.5(CEBPA):c.114C>T (p.Gly38=)
|
|
|
NM_004364.5(CEBPA):c.115C>G (p.Pro39Ala)
|
rs1967199149
|
|
NM_004364.5(CEBPA):c.115_121del (p.Pro39fs)
|
rs587776848
|
|
NM_004364.5(CEBPA):c.116C>G (p.Pro39Arg)
|
|
|
NM_004364.5(CEBPA):c.116C>T (p.Pro39Leu)
|
rs1060502125
|
|
NM_004364.5(CEBPA):c.117C>T (p.Pro39=)
|
rs1318381484
|
|
NM_004364.5(CEBPA):c.118G>A (p.Ala40Thr)
|
|
|
NM_004364.5(CEBPA):c.119C>T (p.Ala40Val)
|
rs1967198676
|
|
NM_004364.5(CEBPA):c.119dup (p.Gln41fs)
|
rs1555742295
|
|
NM_004364.5(CEBPA):c.120G>T (p.Ala40=)
|
rs1555742292
|
|
NM_004364.5(CEBPA):c.123G>C (p.Gln41His)
|
|
|
NM_004364.5(CEBPA):c.124C>T (p.Pro42Ser)
|
rs1382321984
|
|
NM_004364.5(CEBPA):c.124_125delinsTT (p.Pro42Phe)
|
rs2145264332
|
|
NM_004364.5(CEBPA):c.125del (p.Pro42fs)
|
rs2145264339
|
|
NM_004364.5(CEBPA):c.127C>T (p.Pro43Ser)
|
|
|
NM_004364.5(CEBPA):c.127_138del (p.Pro43_Pro46del)
|
rs1967197350
|
|
NM_004364.5(CEBPA):c.129C>A (p.Pro43=)
|
rs1060504476
|
|
NM_004364.5(CEBPA):c.129C>T (p.Pro43=)
|
rs1060504476
|
|
NM_004364.5(CEBPA):c.132C>T (p.Ala44=)
|
rs1060504474
|
|
NM_004364.5(CEBPA):c.132_133delinsAA (p.Pro45Thr)
|
|
|
NM_004364.5(CEBPA):c.133C>G (p.Pro45Ala)
|
rs2145264273
|
|
NM_004364.5(CEBPA):c.134C>T (p.Pro45Leu)
|
|
|
NM_004364.5(CEBPA):c.138T>A (p.Pro46=)
|
rs1387400759
|
|
NM_004364.5(CEBPA):c.13G>C (p.Asp5His)
|
rs2145265106
|
|
NM_004364.5(CEBPA):c.140C>T (p.Ala47Val)
|
rs1444506221
|
|
NM_004364.5(CEBPA):c.141C>T (p.Ala47=)
|
rs2145264175
|
|
NM_004364.5(CEBPA):c.141del (p.Ala48fs)
|
rs137852730
|
|
NM_004364.5(CEBPA):c.142G>T (p.Ala48Ser)
|
|
|
NM_004364.5(CEBPA):c.144C>T (p.Ala48=)
|
rs2145264160
|
|
NM_004364.5(CEBPA):c.145C>A (p.Pro49Thr)
|
rs2145264153
|
|
NM_004364.5(CEBPA):c.146C>G (p.Pro49Arg)
|
|
|
NM_004364.5(CEBPA):c.146C>T (p.Pro49Leu)
|
|
|
NM_004364.5(CEBPA):c.146del (p.Pro49fs)
|
|
|
NM_004364.5(CEBPA):c.147G>A (p.Pro49=)
|
rs2145264142
|
|
NM_004364.5(CEBPA):c.147_165del (p.Glu50fs)
|
rs2145264004
|
|
NM_004364.5(CEBPA):c.148G>T (p.Glu50Ter)
|
rs121912791
|
|
NM_004364.5(CEBPA):c.14A>C (p.Asp5Ala)
|
rs1555742334
|
|
NM_004364.5(CEBPA):c.151C>G (p.Pro51Ala)
|
rs1278513408
|
|
NM_004364.5(CEBPA):c.151C>T (p.Pro51Ser)
|
rs1278513408
|
|
NM_004364.5(CEBPA):c.153G>T (p.Pro51=)
|
rs1054442664
|
|
NM_004364.5(CEBPA):c.156G>A (p.Leu52=)
|
rs1445416977
|
|
NM_004364.5(CEBPA):c.156G>T (p.Leu52=)
|
|
|
NM_004364.5(CEBPA):c.157G>A (p.Gly53Ser)
|
rs1967196253
|
|
NM_004364.5(CEBPA):c.158G>T (p.Gly53Val)
|
rs1600024079
|
|
NM_004364.5(CEBPA):c.158del (p.Gly53fs)
|
rs2145264074
|
|
NM_004364.5(CEBPA):c.159C>T (p.Gly53=)
|
rs1555742279
|
|
NM_004364.5(CEBPA):c.160G>A (p.Gly54Ser)
|
rs777090929
|
|
NM_004364.5(CEBPA):c.160G>C (p.Gly54Arg)
|
|
|
NM_004364.5(CEBPA):c.162C>T (p.Gly54=)
|
rs2145264026
|
|
NM_004364.5(CEBPA):c.165C>T (p.Ile55=)
|
rs1600024047
|
|
NM_004364.5(CEBPA):c.166T>A (p.Cys56Ser)
|
|
|
NM_004364.5(CEBPA):c.168C>A (p.Cys56Ter)
|
rs1967195832
|
|
NM_004364.5(CEBPA):c.168_169delinsGA (p.Cys56_Glu57delinsTrpLys)
|
|
|
NM_004364.5(CEBPA):c.169G>A (p.Glu57Lys)
|
|
|
NM_004364.5(CEBPA):c.16T>A (p.Phe6Ile)
|
rs1600024682
|
|
NM_004364.5(CEBPA):c.171G>C (p.Glu57Asp)
|
rs1967195766
|
|
NM_004364.5(CEBPA):c.171G>T (p.Glu57Asp)
|
|
|
NM_004364.5(CEBPA):c.174C>A (p.His58Gln)
|
|
|
NM_004364.5(CEBPA):c.174C>G (p.His58Gln)
|
rs878854699
|
|
NM_004364.5(CEBPA):c.174C>T (p.His58=)
|
rs878854699
|
|
NM_004364.5(CEBPA):c.174_184del (p.Glu59fs)
|
|
|
NM_004364.5(CEBPA):c.175G>T (p.Glu59Ter)
|
rs1210600080
|
|
NM_004364.5(CEBPA):c.177G>A (p.Glu59=)
|
rs2145263936
|
|
NM_004364.5(CEBPA):c.178A>T (p.Thr60Ser)
|
rs1060502120
|
|
NM_004364.5(CEBPA):c.179dup (p.Ser61fs)
|
|
|
NM_004364.5(CEBPA):c.180G>T (p.Thr60=)
|
rs1243562179
|
|
NM_004364.5(CEBPA):c.180_183del (p.Ile62fs)
|
|
|
NM_004364.5(CEBPA):c.183C>T (p.Ser61=)
|
rs2145263896
|
|
NM_004364.5(CEBPA):c.184A>G (p.Ile62Val)
|
rs558462037
|
|
NM_004364.5(CEBPA):c.186C>A (p.Ile62=)
|
rs1967195162
|
|
NM_004364.5(CEBPA):c.186C>G (p.Ile62Met)
|
rs1967195162
|
|
NM_004364.5(CEBPA):c.186C>T (p.Ile62=)
|
rs1967195162
|
|
NM_004364.5(CEBPA):c.186_190del (p.Asp63fs)
|
rs1060502121
|
|
NM_004364.5(CEBPA):c.187G>C (p.Asp63His)
|
rs1452063514
|
|
NM_004364.5(CEBPA):c.189del (p.Asp63fs)
|
rs2145263853
|
|
NM_004364.5(CEBPA):c.18C>T (p.Phe6=)
|
rs2145265092
|
|
NM_004364.5(CEBPA):c.190A>G (p.Ile64Val)
|
rs1600023975
|
|
NM_004364.5(CEBPA):c.192C>T (p.Ile64=)
|
|
|
NM_004364.5(CEBPA):c.195C>G (p.Ser65Arg)
|
|
|
NM_004364.5(CEBPA):c.195_198delinsACG (p.Ser65fs)
|
rs1600023950
|
|
NM_004364.5(CEBPA):c.196G>A (p.Ala66Thr)
|
rs1967194734
|
|
NM_004364.5(CEBPA):c.196G>T (p.Ala66Ser)
|
|
|
NM_004364.5(CEBPA):c.198C>T (p.Ala66=)
|
|
|
NM_004364.5(CEBPA):c.200A>C (p.Tyr67Ser)
|
|
|
NM_004364.5(CEBPA):c.205G>C (p.Asp69His)
|
|
|
NM_004364.5(CEBPA):c.206del (p.Asp69fs)
|
rs1967194243
|
|
NM_004364.5(CEBPA):c.207C>G (p.Asp69Glu)
|
|
|
NM_004364.5(CEBPA):c.208C>A (p.Pro70Thr)
|
rs2145263768
|
|
NM_004364.5(CEBPA):c.209C>A (p.Pro70Gln)
|
rs1600023907
|
|
NM_004364.5(CEBPA):c.209C>T (p.Pro70Leu)
|
rs1600023907
|
|
NM_004364.5(CEBPA):c.209del (p.Pro70fs)
|
rs2145263762
|
|
NM_004364.5(CEBPA):c.210G>C (p.Pro70=)
|
rs1432277634
|
|
NM_004364.5(CEBPA):c.211G>A (p.Ala71Thr)
|
rs1555742260
|
|
NM_004364.5(CEBPA):c.211_214dup (p.Ala72fs)
|
rs587776849
|
|
NM_004364.5(CEBPA):c.212C>T (p.Ala71Val)
|
|
|
NM_004364.5(CEBPA):c.213C>T (p.Ala71=)
|
rs2145263717
|
|
NM_004364.5(CEBPA):c.214G>T (p.Ala72Ser)
|
rs2145263697
|
|
NM_004364.5(CEBPA):c.216C>T (p.Ala72=)
|
rs2145263684
|
|
NM_004364.5(CEBPA):c.217T>G (p.Phe73Val)
|
|
|
NM_004364.5(CEBPA):c.218T>G (p.Phe73Cys)
|
rs1555742258
|
|
NM_004364.5(CEBPA):c.222C>T (p.Asn74=)
|
rs1324116336
|
|
NM_004364.5(CEBPA):c.222CGA[1] (p.Asp75del)
|
rs1600023841
|
|
NM_004364.5(CEBPA):c.223G>A (p.Asp75Asn)
|
rs2145263642
|
|
NM_004364.5(CEBPA):c.225C>A (p.Asp75Glu)
|
rs949548349
|
|
NM_004364.5(CEBPA):c.226G>C (p.Glu76Gln)
|
|
|
NM_004364.5(CEBPA):c.227A>T (p.Glu76Val)
|
rs2145263620
|
|
NM_004364.5(CEBPA):c.228G>C (p.Glu76Asp)
|
|
|
NM_004364.5(CEBPA):c.22G>A (p.Glu8Lys)
|
rs1600024672
|
|
NM_004364.5(CEBPA):c.231C>T (p.Phe77=)
|
|
|
NM_004364.5(CEBPA):c.233T>A (p.Leu78Gln)
|
rs1967193304
|
|
NM_004364.5(CEBPA):c.236C>A (p.Ala79Asp)
|
|
|
NM_004364.5(CEBPA):c.236C>G (p.Ala79Gly)
|
rs1367071880
|
|
NM_004364.5(CEBPA):c.237C>T (p.Ala79=)
|
rs1967193109
|
|
NM_004364.5(CEBPA):c.240C>T (p.Asp80=)
|
rs2145263542
|
|
NM_004364.5(CEBPA):c.247del (p.Gln83fs)
|
rs1967192886
|
|
NM_004364.5(CEBPA):c.251A>T (p.His84Leu)
|
rs28931590
|
|
NM_004364.5(CEBPA):c.252C>T (p.His84=)
|
rs878854700
|
|
NM_004364.5(CEBPA):c.255C>A (p.Ser85Arg)
|
rs1424809396
|
|
NM_004364.5(CEBPA):c.257G>T (p.Arg86Leu)
|
rs1424468512
|
|
NM_004364.5(CEBPA):c.260A>C (p.Gln87Pro)
|
rs1967192346
|
|
NM_004364.5(CEBPA):c.261G>A (p.Gln87=)
|
|
|
NM_004364.5(CEBPA):c.263A>G (p.Gln88Arg)
|
rs2145263423
|
|
NM_004364.5(CEBPA):c.265_267del (p.Glu89del)
|
rs747773004
|
|
NM_004364.5(CEBPA):c.267G>T (p.Glu89Asp)
|
|
|
NM_004364.5(CEBPA):c.269A>C (p.Lys90Thr)
|
rs1600023742
|
|
NM_004364.5(CEBPA):c.26C>A (p.Ala9Glu)
|
rs2145265055
|
|
NM_004364.5(CEBPA):c.26C>T (p.Ala9Val)
|
|
|
NM_004364.5(CEBPA):c.270G>A (p.Lys90=)
|
rs2145263399
|
|
NM_004364.5(CEBPA):c.270G>T (p.Lys90Asn)
|
|
|
NM_004364.5(CEBPA):c.271G>C (p.Ala91Pro)
|
|
|
NM_004364.5(CEBPA):c.276_277delinsTT (p.Lys92_Ala93delinsAsnSer)
|
|
|
NM_004364.5(CEBPA):c.277_278delinsAA (p.Ala93Lys)
|
rs878854701
|
|
NM_004364.5(CEBPA):c.278C>A (p.Ala93Glu)
|
rs1967191835
|
|
NM_004364.5(CEBPA):c.278C>G (p.Ala93Gly)
|
rs1967191835
|
|
NM_004364.5(CEBPA):c.278C>T (p.Ala93Val)
|
|
|
NM_004364.5(CEBPA):c.279G>T (p.Ala93=)
|
|
|
NM_004364.5(CEBPA):c.27G>A (p.Ala9=)
|
rs1555742328
|
|
NM_004364.5(CEBPA):c.27G>T (p.Ala9=)
|
rs1555742328
|
|
NM_004364.5(CEBPA):c.282C>T (p.Ala94=)
|
|
|
NM_004364.5(CEBPA):c.283G>A (p.Val95Met)
|
rs1356845856
|
|
NM_004364.5(CEBPA):c.283G>T (p.Val95Leu)
|
rs1356845856
|
|
NM_004364.5(CEBPA):c.284T>G (p.Val95Gly)
|
rs2145263298
|
|
NM_004364.5(CEBPA):c.288C>A (p.Gly96=)
|
rs919975422
|
|
NM_004364.5(CEBPA):c.289C>T (p.Pro97Ser)
|
rs1199712903
|
|
NM_004364.5(CEBPA):c.28G>A (p.Glu10Lys)
|
rs1555742327
|
|
NM_004364.5(CEBPA):c.290C>T (p.Pro97Leu)
|
rs1967191484
|
|
NM_004364.5(CEBPA):c.292del (p.Thr98fs)
|
|
|
NM_004364.5(CEBPA):c.293C>G (p.Thr98Arg)
|
rs1490895935
|
|
NM_004364.5(CEBPA):c.293C>T (p.Thr98Met)
|
rs1490895935
|
|
NM_004364.5(CEBPA):c.294G>A (p.Thr98=)
|
rs2145263234
|
|
NM_004364.5(CEBPA):c.294_296dup (p.Gly104dup)
|
rs1967191265
|
|
NM_004364.5(CEBPA):c.295G>A (p.Gly99Ser)
|
rs1967191321
|
|
NM_004364.5(CEBPA):c.296GCG[3] (p.Gly102_Gly104del)
|
rs780345232
|
|
NM_004364.5(CEBPA):c.296GCG[4] (p.Gly103_Gly104del)
|
rs780345232
|
|
NM_004364.5(CEBPA):c.296GCG[5] (p.Gly104del)
|
rs780345232
|
|
NM_004364.5(CEBPA):c.296GCG[7] (p.Gly104dup)
|
rs780345232
|
|
NM_004364.5(CEBPA):c.296GCG[8] (p.Gly103_Gly104dup)
|
rs780345232
|
|
NM_004364.5(CEBPA):c.296GCG[9] (p.Gly102_Gly104dup)
|
rs780345232
|
|
NM_004364.5(CEBPA):c.297C>A (p.Gly99=)
|
rs1967191186
|
|
NM_004364.5(CEBPA):c.297C>G (p.Gly99=)
|
rs1967191186
|
|
NM_004364.5(CEBPA):c.299G>A (p.Gly100Asp)
|
|
|
NM_004364.5(CEBPA):c.300C>A (p.Gly100=)
|
|
|
NM_004364.5(CEBPA):c.301G>A (p.Gly101Ser)
|
|
|
NM_004364.5(CEBPA):c.301G>T (p.Gly101Cys)
|
rs1600023637
|
|
NM_004364.5(CEBPA):c.304G>C (p.Gly102Arg)
|
rs1455462308
|
|
NM_004364.5(CEBPA):c.305G>C (p.Gly102Ala)
|
rs1358539228
|
|
NM_004364.5(CEBPA):c.306C>T (p.Gly102=)
|
rs1273467139
|
|
NM_004364.5(CEBPA):c.307G>C (p.Gly103Arg)
|
|
|
NM_004364.5(CEBPA):c.308G>A (p.Gly103Asp)
|
rs2145263144
|
|
NM_004364.5(CEBPA):c.310G>A (p.Gly104Ser)
|
rs1216191482
|
|
NM_004364.5(CEBPA):c.310_315dup (p.Gly104_Asp105dup)
|
rs1420856782
|
|
NM_004364.5(CEBPA):c.312C>G (p.Gly104=)
|
rs1600023585
|
|
NM_004364.5(CEBPA):c.312C>T (p.Gly104=)
|
|
|
NM_004364.5(CEBPA):c.313_315dup (p.Asp105dup)
|
rs1568420047
|
|
NM_004364.5(CEBPA):c.314A>T (p.Asp105Val)
|
rs2145263100
|
|
NM_004364.5(CEBPA):c.314_315insT (p.Phe106fs)
|
rs2145263088
|
|
NM_004364.5(CEBPA):c.315C>T (p.Asp105=)
|
rs2145263071
|
|
NM_004364.5(CEBPA):c.316T>G (p.Phe106Val)
|
|
|
NM_004364.5(CEBPA):c.318T>C (p.Phe106=)
|
rs1555742225
|
|
NM_004364.5(CEBPA):c.318T>G (p.Phe106Leu)
|
rs1555742225
|
|
NM_004364.5(CEBPA):c.31C>A (p.Pro11Thr)
|
rs1555742325
|
|
NM_004364.5(CEBPA):c.31C>T (p.Pro11Ser)
|
rs1555742325
|
|
NM_004364.5(CEBPA):c.320A>G (p.Asp107Gly)
|
|
|
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.327G>A (p.Pro109=)
|
|
|
NM_004364.5(CEBPA):c.327G>C (p.Pro109=)
|
rs1269033726
|
|
NM_004364.5(CEBPA):c.32C>A (p.Pro11Gln)
|
|
|
NM_004364.5(CEBPA):c.32C>G (p.Pro11Arg)
|
rs1967204111
|
|
NM_004364.5(CEBPA):c.32C>T (p.Pro11Leu)
|
rs1967204111
|
|
NM_004364.5(CEBPA):c.330C>A (p.Gly110=)
|
rs1207839159
|
|
NM_004364.5(CEBPA):c.330C>G (p.Gly110=)
|
rs1207839159
|
|
NM_004364.5(CEBPA):c.332_339del (p.Ala111fs)
|
rs1555742213
|
|
NM_004364.5(CEBPA):c.333G>A (p.Ala111=)
|
rs2145262901
|
|
NM_004364.5(CEBPA):c.333G>T (p.Ala111=)
|
rs2145262901
|
|
NM_004364.5(CEBPA):c.334_336del (p.Pro112del)
|
|
|
NM_004364.5(CEBPA):c.335C>T (p.Pro112Leu)
|
rs2145262888
|
|
NM_004364.5(CEBPA):c.336C>G (p.Pro112=)
|
|
|
NM_004364.5(CEBPA):c.336C>T (p.Pro112=)
|
rs2145262884
|
|
NM_004364.5(CEBPA):c.339G>A (p.Ala113=)
|
rs1032707295
|
|
NM_004364.5(CEBPA):c.339G>T (p.Ala113=)
|
|
|
NM_004364.5(CEBPA):c.33G>A (p.Pro11=)
|
|
|
NM_004364.5(CEBPA):c.343C>T (p.Pro115Ser)
|
rs2145262821
|
|
NM_004364.5(CEBPA):c.344C>T (p.Pro115Leu)
|
|
|
NM_004364.5(CEBPA):c.345C>G (p.Pro115=)
|
|
|
NM_004364.5(CEBPA):c.345C>T (p.Pro115=)
|
rs1001507122
|
|
NM_004364.5(CEBPA):c.346G>A (p.Gly116Ser)
|
|
|
NM_004364.5(CEBPA):c.348C>A (p.Gly116=)
|
rs1405076684
|
|
NM_004364.5(CEBPA):c.348C>T (p.Gly116=)
|
rs1405076684
|
|
NM_004364.5(CEBPA):c.352G>A (p.Ala118Thr)
|
|
|
NM_004364.5(CEBPA):c.353C>T (p.Ala118Val)
|
rs2145262747
|
|
NM_004364.5(CEBPA):c.354C>T (p.Ala118=)
|
|
|
NM_004364.5(CEBPA):c.355G>A (p.Val119Ile)
|
rs902740061
|
|
NM_004364.5(CEBPA):c.355G>C (p.Val119Leu)
|
rs902740061
|
|
NM_004364.5(CEBPA):c.355_357dup (p.Val119dup)
|
rs2145262720
|
|
NM_004364.5(CEBPA):c.357C>T (p.Val119=)
|
rs1600023390
|
|
NM_004364.5(CEBPA):c.358A>G (p.Met120Val)
|
rs1555742209
|
|
NM_004364.5(CEBPA):c.361C>A (p.Pro121Thr)
|
|
|
NM_004364.5(CEBPA):c.361C>G (p.Pro121Ala)
|
rs1967187823
|
|
NM_004364.5(CEBPA):c.361C>T (p.Pro121Ser)
|
rs1967187823
|
|
NM_004364.5(CEBPA):c.362C>A (p.Pro121His)
|
rs1967187752
|
|
NM_004364.5(CEBPA):c.362C>T (p.Pro121Leu)
|
|
|
NM_004364.5(CEBPA):c.363C>A (p.Pro121=)
|
rs1042672907
|
|
NM_004364.5(CEBPA):c.363C>T (p.Pro121=)
|
rs1042672907
|
|
NM_004364.5(CEBPA):c.364G>A (p.Gly122Arg)
|
rs1013724730
|
|
NM_004364.5(CEBPA):c.365G>C (p.Gly122Ala)
|
rs1311096326
|
|
NM_004364.5(CEBPA):c.366G>A (p.Gly122=)
|
rs1303743272
|
|
NM_004364.5(CEBPA):c.366G>C (p.Gly122=)
|
rs1303743272
|
|
NM_004364.5(CEBPA):c.368G>T (p.Gly123Val)
|
rs1600023321
|
|
NM_004364.5(CEBPA):c.36G>A (p.Arg12=)
|
rs2145264978
|
|
NM_004364.5(CEBPA):c.371C>A (p.Ala124Glu)
|
|
|
NM_004364.5(CEBPA):c.371C>T (p.Ala124Val)
|
|
|
NM_004364.5(CEBPA):c.372G>A (p.Ala124=)
|
|
|
NM_004364.5(CEBPA):c.372G>T (p.Ala124=)
|
|
|
NM_004364.5(CEBPA):c.375C>A (p.His125Gln)
|
|
|
NM_004364.5(CEBPA):c.375C>T (p.His125=)
|
rs1365012932
|
|
NM_004364.5(CEBPA):c.376G>A (p.Gly126Arg)
|
|
|
NM_004364.5(CEBPA):c.377G>C (p.Gly126Ala)
|
rs2145262546
|
|
NM_004364.5(CEBPA):c.378G>A (p.Gly126=)
|
rs1967186909
|
|
NM_004364.5(CEBPA):c.378G>T (p.Gly126=)
|
rs1967186909
|
|
NM_004364.5(CEBPA):c.379C>T (p.Pro127Ser)
|
rs1055210725
|
|
NM_004364.5(CEBPA):c.37C>A (p.Pro13Thr)
|
rs961496947
|
|
NM_004364.5(CEBPA):c.37C>G (p.Pro13Ala)
|
rs961496947
|
|
NM_004364.5(CEBPA):c.37C>T (p.Pro13Ser)
|
rs961496947
|
|
NM_004364.5(CEBPA):c.380C>A (p.Pro127His)
|
|
|
NM_004364.5(CEBPA):c.383C>G (p.Pro128Arg)
|
rs878854702
|
|
NM_004364.5(CEBPA):c.383C>T (p.Pro128Leu)
|
rs878854702
|
|
NM_004364.5(CEBPA):c.384G>A (p.Pro128=)
|
rs938139789
|
|
NM_004364.5(CEBPA):c.384G>C (p.Pro128=)
|
rs938139789
|
|
NM_004364.5(CEBPA):c.386C>A (p.Pro129His)
|
rs1600023223
|
|
NM_004364.5(CEBPA):c.387C>G (p.Pro129=)
|
rs1060504477
|
|
NM_004364.5(CEBPA):c.388G>T (p.Gly130Cys)
|
rs919904139
|
|
NM_004364.5(CEBPA):c.389G>A (p.Gly130Asp)
|
|
|
NM_004364.5(CEBPA):c.389G>T (p.Gly130Val)
|
|
|
NM_004364.5(CEBPA):c.38C>G (p.Pro13Arg)
|
rs2145264956
|
|
NM_004364.5(CEBPA):c.394G>A (p.Gly132Ser)
|
|
|
NM_004364.5(CEBPA):c.394G>C (p.Gly132Arg)
|
rs1038352346
|
|
NM_004364.5(CEBPA):c.394G>T (p.Gly132Cys)
|
|
|
NM_004364.5(CEBPA):c.394_414dup (p.Gly132_Tyr138dup)
|
rs2145262280
|
|
NM_004364.5(CEBPA):c.395G>A (p.Gly132Asp)
|
|
|
NM_004364.5(CEBPA):c.398G>A (p.Cys133Tyr)
|
|
|
NM_004364.5(CEBPA):c.399C>T (p.Cys133=)
|
rs2145262379
|
|
NM_004364.5(CEBPA):c.39C>T (p.Pro13=)
|
rs1015459376
|
|
NM_004364.5(CEBPA):c.403G>C (p.Ala135Pro)
|
|
|
NM_004364.5(CEBPA):c.405C>T (p.Ala135=)
|
|
|
NM_004364.5(CEBPA):c.406G>A (p.Ala136Thr)
|
rs1172993204
|
|
NM_004364.5(CEBPA):c.406G>T (p.Ala136Ser)
|
rs1172993204
|
|
NM_004364.5(CEBPA):c.407C>G (p.Ala136Gly)
|
rs1967185191
|
|
NM_004364.5(CEBPA):c.411C>T (p.Gly137=)
|
|
|
NM_004364.5(CEBPA):c.414C>T (p.Tyr138=)
|
|
|
NM_004364.5(CEBPA):c.416T>C (p.Leu139Pro)
|
rs2145262262
|
|
NM_004364.5(CEBPA):c.416T>G (p.Leu139Arg)
|
rs2145262262
|
|
NM_004364.5(CEBPA):c.417G>A (p.Leu139=)
|
|
|
NM_004364.5(CEBPA):c.41C>A (p.Pro14Gln)
|
rs1007915253
|
|
NM_004364.5(CEBPA):c.41C>G (p.Pro14Arg)
|
rs1007915253
|
|
NM_004364.5(CEBPA):c.41C>T (p.Pro14Leu)
|
|
|
NM_004364.5(CEBPA):c.420C>T (p.Asp140=)
|
rs2145262231
|
|
NM_004364.5(CEBPA):c.421G>A (p.Gly141Ser)
|
rs1408671093
|
|
NM_004364.5(CEBPA):c.421G>C (p.Gly141Arg)
|
rs1408671093
|
|
NM_004364.5(CEBPA):c.423C>T (p.Gly141=)
|
|
|
NM_004364.5(CEBPA):c.425G>A (p.Arg142Lys)
|
rs1967184663
|
|
NM_004364.5(CEBPA):c.426del (p.Arg142fs)
|
|
|
NM_004364.5(CEBPA):c.430G>A (p.Glu144Lys)
|
|
|
NM_004364.5(CEBPA):c.431A>G (p.Glu144Gly)
|
rs1967184550
|
|
NM_004364.5(CEBPA):c.432G>C (p.Glu144Asp)
|
rs1555742184
|
|
NM_004364.5(CEBPA):c.432G>T (p.Glu144Asp)
|
rs1555742184
|
|
NM_004364.5(CEBPA):c.434C>T (p.Pro145Leu)
|
rs2145262134
|
|
NM_004364.5(CEBPA):c.435C>A (p.Pro145=)
|
|
|
NM_004364.5(CEBPA):c.437T>C (p.Leu146Pro)
|
rs1481195051
|
|
NM_004364.5(CEBPA):c.438G>A (p.Leu146=)
|
rs2145262115
|
|
NM_004364.5(CEBPA):c.438G>C (p.Leu146=)
|
|
|
NM_004364.5(CEBPA):c.439T>C (p.Tyr147His)
|
|
|
NM_004364.5(CEBPA):c.43A>C (p.Met15Leu)
|
rs1967203329
|
|
NM_004364.5(CEBPA):c.43A>G (p.Met15Val)
|
rs1967203329
|
|
NM_004364.5(CEBPA):c.440A>G (p.Tyr147Cys)
|
|
|
NM_004364.5(CEBPA):c.441C>T (p.Tyr147=)
|
rs2145262085
|
|
NM_004364.5(CEBPA):c.442G>A (p.Glu148Lys)
|
rs1388478228
|
|
NM_004364.5(CEBPA):c.442G>T (p.Glu148Ter)
|
rs1388478228
|
|
NM_004364.5(CEBPA):c.445C>T (p.Arg149Cys)
|
rs2145262063
|
|
NM_004364.5(CEBPA):c.446G>A (p.Arg149His)
|
|
|
NM_004364.5(CEBPA):c.448G>T (p.Val150Phe)
|
rs1600023056
|
|
NM_004364.5(CEBPA):c.449T>A (p.Val150Asp)
|
rs2145262045
|
|
NM_004364.5(CEBPA):c.44T>A (p.Met15Lys)
|
|
|
NM_004364.5(CEBPA):c.44T>C (p.Met15Thr)
|
rs1600024585
|
|
NM_004364.5(CEBPA):c.450C>A (p.Val150=)
|
rs2145262031
|
|
NM_004364.5(CEBPA):c.450C>T (p.Val150=)
|
rs2145262031
|
|
NM_004364.5(CEBPA):c.450_468delinsTGAT (p.Gly151_Arg156delinsAsp)
|
rs1967182998
|
|
NM_004364.5(CEBPA):c.451G>A (p.Gly151Arg)
|
rs986682061
|
|
NM_004364.5(CEBPA):c.451G>C (p.Gly151Arg)
|
rs986682061
|
|
NM_004364.5(CEBPA):c.451G>T (p.Gly151Trp)
|
rs986682061
|
|
NM_004364.5(CEBPA):c.452G>A (p.Gly151Glu)
|
rs2145262013
|
|
NM_004364.5(CEBPA):c.453G>A (p.Gly151=)
|
rs2145262006
|
|
NM_004364.5(CEBPA):c.453G>T (p.Gly151=)
|
rs2145262006
|
|
NM_004364.5(CEBPA):c.455C>A (p.Ala152Glu)
|
rs1967183790
|
|
NM_004364.5(CEBPA):c.455C>T (p.Ala152Val)
|
rs1967183790
|
|
NM_004364.5(CEBPA):c.457C>T (p.Pro153Ser)
|
rs2145261985
|
|
NM_004364.5(CEBPA):c.458C>A (p.Pro153Gln)
|
rs1967183728
|
|
NM_004364.5(CEBPA):c.458C>G (p.Pro153Arg)
|
rs1967183728
|
|
NM_004364.5(CEBPA):c.458_523del (p.Pro153_Ala174del)
|
|
|
NM_004364.5(CEBPA):c.459G>C (p.Pro153=)
|
rs779373951
|
|
NM_004364.5(CEBPA):c.461C>T (p.Ala154Val)
|
|
|
NM_004364.5(CEBPA):c.462G>A (p.Ala154=)
|
rs1481499354
|
|
NM_004364.5(CEBPA):c.466C>A (p.Arg156=)
|
rs1267025311
|
|
NM_004364.5(CEBPA):c.46AGC[1] (p.Ser17del)
|
|
|
NM_004364.5(CEBPA):c.470C>T (p.Pro157Leu)
|
|
|
NM_004364.5(CEBPA):c.472C>A (p.Leu158Met)
|
|
|
NM_004364.5(CEBPA):c.473T>G (p.Leu158Arg)
|
|
|
NM_004364.5(CEBPA):c.475G>A (p.Val159Met)
|
|
|
NM_004364.5(CEBPA):c.475G>T (p.Val159Leu)
|
rs2145261853
|
|
NM_004364.5(CEBPA):c.477G>A (p.Val159=)
|
rs2145261839
|
|
NM_004364.5(CEBPA):c.478A>G (p.Ile160Val)
|
|
|
NM_004364.5(CEBPA):c.487G>A (p.Glu163Lys)
|
rs1347514128
|
|
NM_004364.5(CEBPA):c.487G>C (p.Glu163Gln)
|
|
|
NM_004364.5(CEBPA):c.489G>A (p.Glu163=)
|
|
|
NM_004364.5(CEBPA):c.489G>T (p.Glu163Asp)
|
|
|
NM_004364.5(CEBPA):c.493C>A (p.Arg165Ser)
|
rs1967182334
|
|
NM_004364.5(CEBPA):c.494G>A (p.Arg165His)
|
rs1481086547
|
|
NM_004364.5(CEBPA):c.49A>G (p.Ser17Gly)
|
rs2145264889
|
|
NM_004364.5(CEBPA):c.502G>A (p.Asp168Asn)
|
|
|
NM_004364.5(CEBPA):c.503A>T (p.Asp168Val)
|
rs2145261721
|
|
NM_004364.5(CEBPA):c.504T>C (p.Asp168=)
|
|
|
NM_004364.5(CEBPA):c.507A>G (p.Glu169=)
|
rs1967181843
|
|
NM_004364.5(CEBPA):c.508G>A (p.Ala170Thr)
|
|
|
NM_004364.5(CEBPA):c.510C>G (p.Ala170=)
|
|
|
NM_004364.5(CEBPA):c.512A>C (p.Lys171Thr)
|
|
|
NM_004364.5(CEBPA):c.518T>C (p.Leu173Pro)
|
|
|
NM_004364.5(CEBPA):c.518T>G (p.Leu173Arg)
|
|
|
NM_004364.5(CEBPA):c.522G>T (p.Ala174=)
|
rs1272249243
|
|
NM_004364.5(CEBPA):c.527C>G (p.Ala176Gly)
|
rs957167825
|
|
NM_004364.5(CEBPA):c.528C>A (p.Ala176=)
|
rs2145261618
|
|
NM_004364.5(CEBPA):c.529G>A (p.Gly177Ser)
|
|
|
NM_004364.5(CEBPA):c.52C>T (p.His18Tyr)
|
rs1600024559
|
|
NM_004364.5(CEBPA):c.530G>A (p.Gly177Asp)
|
rs1967181220
|
|
NM_004364.5(CEBPA):c.531C>T (p.Gly177=)
|
rs1967181154
|
|
NM_004364.5(CEBPA):c.532C>T (p.Leu178Phe)
|
rs1325138029
|
|
NM_004364.5(CEBPA):c.533T>C (p.Leu178Pro)
|
rs1967180974
|
|
NM_004364.5(CEBPA):c.534C>T (p.Leu178=)
|
rs1600022850
|
|
NM_004364.5(CEBPA):c.543C>G (p.Tyr181Ter)
|
|
|
NM_004364.5(CEBPA):c.544C>A (p.Gln182Lys)
|
rs1600022835
|
|
NM_004364.5(CEBPA):c.545A>C (p.Gln182Pro)
|
rs1555742145
|
|
NM_004364.5(CEBPA):c.545A>G (p.Gln182Arg)
|
|
|
NM_004364.5(CEBPA):c.545A>T (p.Gln182Leu)
|
rs1555742145
|
|
NM_004364.5(CEBPA):c.546G>A (p.Gln182=)
|
|
|
NM_004364.5(CEBPA):c.546G>C (p.Gln182His)
|
rs2145261525
|
|
NM_004364.5(CEBPA):c.546GCC[10] (p.Pro187_Pro189dup)
|
rs746430067
|
|
NM_004364.5(CEBPA):c.546GCC[3] (p.Pro186_Pro189del)
|
rs746430067
|
|
NM_004364.5(CEBPA):c.546GCC[4] (p.Pro187_Pro189del)
|
rs746430067
|
|
NM_004364.5(CEBPA):c.546GCC[5] (p.Pro188_Pro189del)
|
rs746430067
|
|
NM_004364.5(CEBPA):c.546GCC[6] (p.Pro189del)
|
rs746430067
|
|
NM_004364.5(CEBPA):c.546GCC[8] (p.Pro189dup)
|
rs746430067
|
|
NM_004364.5(CEBPA):c.546GCC[9] (p.Pro188_Pro189dup)
|
rs746430067
|
|
NM_004364.5(CEBPA):c.547C>A (p.Pro183Thr)
|
rs998501847
|
|
NM_004364.5(CEBPA):c.548C>G (p.Pro183Arg)
|
rs1222448862
|
|
NM_004364.5(CEBPA):c.54C>G (p.His18Gln)
|
rs1600024552
|
|
NM_004364.5(CEBPA):c.551C>T (p.Pro184Leu)
|
|
|
NM_004364.5(CEBPA):c.554C>T (p.Pro185Leu)
|
rs2145261468
|
|
NM_004364.5(CEBPA):c.556C>T (p.Pro186Ser)
|
rs1303742006
|
|
NM_004364.5(CEBPA):c.557C>T (p.Pro186Leu)
|
rs1367523224
|
|
NM_004364.5(CEBPA):c.558_561del (p.Pro187fs)
|
rs1427211628
|
|
NM_004364.5(CEBPA):c.558_568delinsCTCGCACC (p.Pro187_Ser190delinsSerHisPro)
|
rs1568419793
|
|
NM_004364.5(CEBPA):c.560C>A (p.Pro187Gln)
|
rs1600022732
|
|
NM_004364.5(CEBPA):c.562C>T (p.Pro188Ser)
|
rs2145261406
|
|
NM_004364.5(CEBPA):c.563C>A (p.Pro188Gln)
|
rs1568419813
|
|
NM_004364.5(CEBPA):c.566_567insGCCCTCGCA (p.Pro189_Ser190insProSerHis)
|
rs1967178862
|
|
NM_004364.5(CEBPA):c.566_567insGCCGCCGCCCTCGCA (p.Pro189_Ser190insProProProSerHis)
|
rs1967178862
|
|
NM_004364.5(CEBPA):c.567C>T (p.Pro189=)
|
rs2145261321
|
|
NM_004364.5(CEBPA):c.568_594del (p.Ser190_Pro198del)
|
|
|
NM_004364.5(CEBPA):c.569C>G (p.Ser190Trp)
|
rs1555742114
|
|
NM_004364.5(CEBPA):c.569_570insCCACCC (p.191HP[4])
|
rs2145261294
|
|
NM_004364.5(CEBPA):c.56T>G (p.Leu19Arg)
|
|
|
NM_004364.5(CEBPA):c.570G>T (p.Ser190=)
|
|
|
NM_004364.5(CEBPA):c.572A>T (p.His191Leu)
|
|
|
NM_004364.5(CEBPA):c.572ACCCGC[1] (p.191HP[1])
|
rs762459325
|
|
NM_004364.5(CEBPA):c.572ACCCGC[2] (p.191HP[2])
|
rs762459325
|
|
NM_004364.5(CEBPA):c.572ACCCGC[4] (p.191HP[4])
|
rs762459325
|
|
NM_004364.5(CEBPA):c.572ACCCGC[5] (p.191HP[5])
|
rs762459325
|
|
NM_004364.5(CEBPA):c.572ACCCGC[6] (p.191HP[6])
|
rs762459325
|
|
NM_004364.5(CEBPA):c.575C>G (p.Pro192Arg)
|
rs1247330890
|
|
NM_004364.5(CEBPA):c.576G>T (p.Pro192=)
|
rs878854703
|
|
NM_004364.5(CEBPA):c.576_577insTACCCG (p.Pro192_His193insTyrPro)
|
rs1555742103
|
|
NM_004364.5(CEBPA):c.577C>T (p.His193Tyr)
|
|
|
NM_004364.5(CEBPA):c.579C>T (p.His193=)
|
rs1260660049
|
|
NM_004364.5(CEBPA):c.579_580insACGCAC (p.His193_Pro194insThrHis)
|
|
|
NM_004364.5(CEBPA):c.57G>A (p.Leu19=)
|
rs2145264840
|
|
NM_004364.5(CEBPA):c.580C>A (p.Pro194Thr)
|
|
|
NM_004364.5(CEBPA):c.580C>G (p.Pro194Ala)
|
rs1967177805
|
|
NM_004364.5(CEBPA):c.581C>A (p.Pro194Gln)
|
|
|
NM_004364.5(CEBPA):c.581C>G (p.Pro194Arg)
|
rs1487598012
|
|
NM_004364.5(CEBPA):c.582G>T (p.Pro194=)
|
|
|
NM_004364.5(CEBPA):c.583C>T (p.His195Tyr)
|
rs1213752306
|
|
NM_004364.5(CEBPA):c.584A>C (p.His195Pro)
|
|
|
NM_004364.5(CEBPA):c.585C>G (p.His195Gln)
|
rs2145261171
|
|
NM_004364.5(CEBPA):c.585C>T (p.His195=)
|
rs2145261171
|
|
NM_004364.5(CEBPA):c.588G>A (p.Pro196=)
|
|
|
NM_004364.5(CEBPA):c.588G>C (p.Pro196=)
|
|
|
NM_004364.5(CEBPA):c.590C>T (p.Pro197Leu)
|
rs1568419745
|
|
NM_004364.5(CEBPA):c.591G>A (p.Pro197=)
|
rs1253794663
|
|
NM_004364.5(CEBPA):c.591G>T (p.Pro197=)
|
|
|
NM_004364.5(CEBPA):c.592C>A (p.Pro198Thr)
|
rs2145261086
|
|
NM_004364.5(CEBPA):c.592C>T (p.Pro198Ser)
|
rs2145261086
|
|
NM_004364.5(CEBPA):c.594C>A (p.Pro198=)
|
rs1222412810
|
|
NM_004364.5(CEBPA):c.594C>G (p.Pro198=)
|
|
|
NM_004364.5(CEBPA):c.595G>A (p.Ala199Thr)
|
rs1308416905
|
|
NM_004364.5(CEBPA):c.595_596delinsTT (p.Ala199Leu)
|
rs1060502118
|
|
NM_004364.5(CEBPA):c.597G>T (p.Ala199=)
|
rs1372984262
|
|
NM_004364.5(CEBPA):c.598C>G (p.His200Asp)
|
rs2145261016
|
|
NM_004364.5(CEBPA):c.600C>G (p.His200Gln)
|
|
|
NM_004364.5(CEBPA):c.605C>T (p.Ala202Val)
|
rs1316179719
|
|
NM_004364.5(CEBPA):c.606C>T (p.Ala202=)
|
|
|
NM_004364.5(CEBPA):c.607_608delinsTT (p.Ala203Phe)
|
|
|
NM_004364.5(CEBPA):c.60G>C (p.Gln20His)
|
rs1060502123
|
|
NM_004364.5(CEBPA):c.60dup (p.Ser21fs)
|
rs2145264820
|
|
NM_004364.5(CEBPA):c.610C>G (p.Pro204Ala)
|
rs1600022363
|
|
NM_004364.5(CEBPA):c.611C>G (p.Pro204Arg)
|
|
|
NM_004364.5(CEBPA):c.611C>T (p.Pro204Leu)
|
|
|
NM_004364.5(CEBPA):c.612G>A (p.Pro204=)
|
|
|
NM_004364.5(CEBPA):c.612G>T (p.Pro204=)
|
|
|
NM_004364.5(CEBPA):c.614A>G (p.His205Arg)
|
rs1568419698
|
|
NM_004364.5(CEBPA):c.616C>A (p.Leu206Met)
|
|
|
NM_004364.5(CEBPA):c.621G>A (p.Gln207=)
|
rs2145260948
|
|
NM_004364.5(CEBPA):c.622T>G (p.Phe208Val)
|
|
|
NM_004364.5(CEBPA):c.624C>A (p.Phe208Leu)
|
rs2145260930
|
|
NM_004364.5(CEBPA):c.62G>A (p.Ser21Asn)
|
|
|
NM_004364.5(CEBPA):c.62G>T (p.Ser21Ile)
|
rs890855027
|
|
NM_004364.5(CEBPA):c.631G>A (p.Ala211Thr)
|
rs1568419687
|
|
NM_004364.5(CEBPA):c.631G>C (p.Ala211Pro)
|
rs1568419687
|
|
NM_004364.5(CEBPA):c.631G>T (p.Ala211Ser)
|
rs1568419687
|
|
NM_004364.5(CEBPA):c.633G>A (p.Ala211=)
|
|
|
NM_004364.5(CEBPA):c.634C>G (p.His212Asp)
|
rs1433126196
|
|
NM_004364.5(CEBPA):c.634C>T (p.His212Tyr)
|
rs1433126196
|
|
NM_004364.5(CEBPA):c.635A>C (p.His212Pro)
|
|
|
NM_004364.5(CEBPA):c.635A>G (p.His212Arg)
|
rs1967174956
|
|
NM_004364.5(CEBPA):c.636C>T (p.His212=)
|
|
|
NM_004364.5(CEBPA):c.639C>A (p.Cys213Ter)
|
rs1967174687
|
|
NM_004364.5(CEBPA):c.63C>A (p.Ser21Arg)
|
rs867113214
|
|
NM_004364.5(CEBPA):c.63C>G (p.Ser21Arg)
|
|
|
NM_004364.5(CEBPA):c.63C>T (p.Ser21=)
|
|
|
NM_004364.5(CEBPA):c.640G>A (p.Gly214Ser)
|
|
|
NM_004364.5(CEBPA):c.641G>T (p.Gly214Val)
|
rs1967174628
|
|
NM_004364.5(CEBPA):c.645G>A (p.Gln215=)
|
rs2145260868
|
|
NM_004364.5(CEBPA):c.646A>G (p.Thr216Ala)
|
rs1600022240
|
|
NM_004364.5(CEBPA):c.648C>A (p.Thr216=)
|
rs2145260857
|
|
NM_004364.5(CEBPA):c.649A>G (p.Thr217Ala)
|
rs1967174429
|
|
NM_004364.5(CEBPA):c.64C>A (p.Pro22Thr)
|
rs770636941
|
|
NM_004364.5(CEBPA):c.652A>C (p.Met218Leu)
|
|
|
NM_004364.5(CEBPA):c.653T>C (p.Met218Thr)
|
|
|
NM_004364.5(CEBPA):c.654G>A (p.Met218Ile)
|
|
|
NM_004364.5(CEBPA):c.654G>T (p.Met218Ile)
|
rs1555742071
|
|
NM_004364.5(CEBPA):c.655C>A (p.His219Asn)
|
rs1568419664
|
|
NM_004364.5(CEBPA):c.658C>T (p.Leu220=)
|
rs2145260823
|
|
NM_004364.5(CEBPA):c.660G>A (p.Leu220=)
|
rs2145260813
|
|
NM_004364.5(CEBPA):c.662A>T (p.Gln221Leu)
|
rs2145260807
|
|
NM_004364.5(CEBPA):c.664C>T (p.Pro222Ser)
|
rs1568419654
|
|
NM_004364.5(CEBPA):c.665C>T (p.Pro222Leu)
|
|
|
NM_004364.5(CEBPA):c.666C>A (p.Pro222=)
|
rs1184004794
|
|
NM_004364.5(CEBPA):c.666C>G (p.Pro222=)
|
rs1184004794
|
|
NM_004364.5(CEBPA):c.666C>T (p.Pro222=)
|
rs1184004794
|
|
NM_004364.5(CEBPA):c.668G>A (p.Gly223Asp)
|
rs2145260788
|
|
NM_004364.5(CEBPA):c.668G>C (p.Gly223Ala)
|
|
|
NM_004364.5(CEBPA):c.669T>C (p.Gly223=)
|
|
|
NM_004364.5(CEBPA):c.66C>T (p.Pro22=)
|
|
|
NM_004364.5(CEBPA):c.672C>G (p.His224Gln)
|
|
|
NM_004364.5(CEBPA):c.674C>T (p.Pro225Leu)
|
rs1241253530
|
|
NM_004364.5(CEBPA):c.675C>T (p.Pro225=)
|
|
|
NM_004364.5(CEBPA):c.678G>A (p.Thr226=)
|
rs1600022140
|
|
NM_004364.5(CEBPA):c.678G>T (p.Thr226=)
|
|
|
NM_004364.5(CEBPA):c.67C>A (p.Pro23Thr)
|
rs1478319097
|
|
NM_004364.5(CEBPA):c.67C>T (p.Pro23Ser)
|
rs1478319097
|
|
NM_004364.5(CEBPA):c.680C>T (p.Pro227Leu)
|
|
|
NM_004364.5(CEBPA):c.684G>A (p.Pro228=)
|
rs1199384366
|
|
NM_004364.5(CEBPA):c.686C>G (p.Pro229Arg)
|
|
|
NM_004364.5(CEBPA):c.68C>A (p.Pro23Gln)
|
rs1308550194
|
|
NM_004364.5(CEBPA):c.68C>G (p.Pro23Arg)
|
|
|
NM_004364.5(CEBPA):c.68del (p.Pro23fs)
|
rs137852728
|
|
NM_004364.5(CEBPA):c.68dup (p.His24fs)
|
rs137852728
|
|
NM_004364.5(CEBPA):c.693C>A (p.Pro231=)
|
rs550308123
|
|
NM_004364.5(CEBPA):c.693C>T (p.Pro231=)
|
|
|
NM_004364.5(CEBPA):c.695T>C (p.Val232Ala)
|
rs1600022098
|
|
NM_004364.5(CEBPA):c.697C>G (p.Pro233Ala)
|
|
|
NM_004364.5(CEBPA):c.697C>T (p.Pro233Ser)
|
|
|
NM_004364.5(CEBPA):c.698C>A (p.Pro233His)
|
rs1352573347
|
|
NM_004364.5(CEBPA):c.698C>G (p.Pro233Arg)
|
|
|
NM_004364.5(CEBPA):c.699C>T (p.Pro233=)
|
rs2145260639
|
|
NM_004364.5(CEBPA):c.69del (p.His24fs)
|
rs2145264731
|
|
NM_004364.5(CEBPA):c.6G>C (p.Glu2Asp)
|
rs2145265146
|
|
NM_004364.5(CEBPA):c.700A>G (p.Ser234Gly)
|
|
|
NM_004364.5(CEBPA):c.704C>G (p.Pro235Arg)
|
|
|
NM_004364.5(CEBPA):c.705G>A (p.Pro235=)
|
rs1600022049
|
|
NM_004364.5(CEBPA):c.706C>A (p.His236Asn)
|
|
|
NM_004364.5(CEBPA):c.709C>T (p.Pro237Ser)
|
rs921077083
|
|
NM_004364.5(CEBPA):c.710C>G (p.Pro237Arg)
|
rs1967172281
|
|
NM_004364.5(CEBPA):c.710C>T (p.Pro237Leu)
|
rs1967172281
|
|
NM_004364.5(CEBPA):c.710CCGCGC[3] (p.237PA[3])
|
rs1967171960
|
|
NM_004364.5(CEBPA):c.711C>A (p.Pro237=)
|
|
|
NM_004364.5(CEBPA):c.711C>T (p.Pro237=)
|
|
|
NM_004364.5(CEBPA):c.713C>A (p.Ala238Glu)
|
rs3745972
|
|
NM_004364.5(CEBPA):c.713C>G (p.Ala238Gly)
|
|
|
NM_004364.5(CEBPA):c.713C>T (p.Ala238Val)
|
rs3745972
|
|
NM_004364.5(CEBPA):c.714G>T (p.Ala238=)
|
|
|
NM_004364.5(CEBPA):c.716C>T (p.Pro239Leu)
|
rs2145260550
|
|
NM_004364.5(CEBPA):c.717C>A (p.Pro239=)
|
|
|
NM_004364.5(CEBPA):c.717C>T (p.Pro239=)
|
rs2145260544
|
|
NM_004364.5(CEBPA):c.718G>A (p.Ala240Thr)
|
|
|
NM_004364.5(CEBPA):c.719C>T (p.Ala240Val)
|
|
|
NM_004364.5(CEBPA):c.719_724dup (p.Ala240_Leu241dup)
|
rs2145260517
|
|
NM_004364.5(CEBPA):c.720G>T (p.Ala240=)
|
rs2145260539
|
|
NM_004364.5(CEBPA):c.722T>C (p.Leu241Pro)
|
rs2145260532
|
|
NM_004364.5(CEBPA):c.723C>A (p.Leu241=)
|
rs1408787997
|
|
NM_004364.5(CEBPA):c.723C>G (p.Leu241=)
|
rs1408787997
|
|
NM_004364.5(CEBPA):c.724G>C (p.Gly242Arg)
|
|
|
NM_004364.5(CEBPA):c.727G>A (p.Ala243Thr)
|
rs2145260494
|
|
NM_004364.5(CEBPA):c.729C>T (p.Ala243=)
|
rs1248693843
|
|
NM_004364.5(CEBPA):c.72C>A (p.His24Gln)
|
rs1555742309
|
|
NM_004364.5(CEBPA):c.72C>G (p.His24Gln)
|
rs1555742309
|
|
NM_004364.5(CEBPA):c.730G>A (p.Ala244Thr)
|
rs957444896
|
|
NM_004364.5(CEBPA):c.733G>C (p.Gly245Arg)
|
|
|
NM_004364.5(CEBPA):c.734G>A (p.Gly245Asp)
|
|
|
NM_004364.5(CEBPA):c.736C>T (p.Leu246=)
|
|
|
NM_004364.5(CEBPA):c.73G>C (p.Ala25Pro)
|
rs1600024440
|
|
NM_004364.5(CEBPA):c.741G>C (p.Pro247=)
|
rs1600021917
|
|
NM_004364.5(CEBPA):c.743G>A (p.Gly248Asp)
|
rs1967171226
|
|
NM_004364.5(CEBPA):c.743G>T (p.Gly248Val)
|
|
|
NM_004364.5(CEBPA):c.747T>C (p.Pro249=)
|
rs2145260387
|
|
NM_004364.5(CEBPA):c.748G>A (p.Gly250Ser)
|
rs1555742056
|
|
NM_004364.5(CEBPA):c.74C>T (p.Ala25Val)
|
rs2145264688
|
|
NM_004364.5(CEBPA):c.750C>A (p.Gly250=)
|
rs1280706388
|
|
NM_004364.5(CEBPA):c.751A>G (p.Ser251Gly)
|
rs1382832060
|
|
NM_004364.5(CEBPA):c.751A>T (p.Ser251Cys)
|
|
|
NM_004364.5(CEBPA):c.752G>C (p.Ser251Thr)
|
rs1967170735
|
|
NM_004364.5(CEBPA):c.756G>A (p.Ala252=)
|
|
|
NM_004364.5(CEBPA):c.756G>C (p.Ala252=)
|
rs571969199
|
|
NM_004364.5(CEBPA):c.756_757delinsCT (p.Leu253Phe)
|
rs2145260308
|
|
NM_004364.5(CEBPA):c.75G>A (p.Ala25=)
|
|
|
NM_004364.5(CEBPA):c.763G>A (p.Gly255Arg)
|
rs1967170243
|
|
NM_004364.5(CEBPA):c.764G>A (p.Gly255Glu)
|
rs2145260264
|
|
NM_004364.5(CEBPA):c.766C>T (p.Leu256=)
|
rs1967170063
|
|
NM_004364.5(CEBPA):c.768G>C (p.Leu256=)
|
|
|
NM_004364.5(CEBPA):c.768G>T (p.Leu256=)
|
|
|
NM_004364.5(CEBPA):c.774C>A (p.Ala258=)
|
rs2145260205
|
|
NM_004364.5(CEBPA):c.775G>A (p.Ala259Thr)
|
|
|
NM_004364.5(CEBPA):c.776C>G (p.Ala259Gly)
|
rs746895795
|
|
NM_004364.5(CEBPA):c.777G>T (p.Ala259=)
|
rs967066471
|
|
NM_004364.5(CEBPA):c.778C>A (p.His260Asn)
|
|
|
NM_004364.5(CEBPA):c.778C>T (p.His260Tyr)
|
|
|
NM_004364.5(CEBPA):c.77C>G (p.Pro26Arg)
|
|
|
NM_004364.5(CEBPA):c.780C>A (p.His260Gln)
|
rs1429055509
|
|
NM_004364.5(CEBPA):c.782C>G (p.Pro261Arg)
|
rs1184283480
|
|
NM_004364.5(CEBPA):c.783C>T (p.Pro261=)
|
rs777375579
|
|
NM_004364.5(CEBPA):c.786C>A (p.Asp262Glu)
|
rs747881336
|
|
NM_004364.5(CEBPA):c.788T>G (p.Leu263Arg)
|
|
|
NM_004364.5(CEBPA):c.791G>A (p.Arg264His)
|
|
|
NM_004364.5(CEBPA):c.792C>T (p.Arg264=)
|
rs1967168365
|
|
NM_004364.5(CEBPA):c.793_794delinsAT (p.Ala265Met)
|
rs1555742019
|
|
NM_004364.5(CEBPA):c.794C>T (p.Ala265Val)
|
|
|
NM_004364.5(CEBPA):c.797del (p.Ser266fs)
|
rs2145260029
|
|
NM_004364.5(CEBPA):c.798T>C (p.Ser266=)
|
rs528683666
|
|
NM_004364.5(CEBPA):c.799G>A (p.Gly267Ser)
|
|
|
NM_004364.5(CEBPA):c.79A>G (p.Ser27Gly)
|
rs1967201448
|
|
NM_004364.5(CEBPA):c.802G>A (p.Gly268Ser)
|
rs1568419433
|
|
NM_004364.5(CEBPA):c.802G>T (p.Gly268Cys)
|
rs1568419433
|
|
NM_004364.5(CEBPA):c.804C>T (p.Gly268=)
|
rs1428722570
|
|
NM_004364.5(CEBPA):c.808G>A (p.Gly270Ser)
|
|
|
NM_004364.5(CEBPA):c.80G>C (p.Ser27Thr)
|
rs2145264644
|
|
NM_004364.5(CEBPA):c.810C>G (p.Gly270=)
|
rs1480870823
|
|
NM_004364.5(CEBPA):c.811G>A (p.Ala271Thr)
|
rs756632245
|
|
NM_004364.5(CEBPA):c.811G>T (p.Ala271Ser)
|
rs756632245
|
|
NM_004364.5(CEBPA):c.811_812delinsTT (p.Ala271Leu)
|
rs2145259941
|
|
NM_004364.5(CEBPA):c.812C>G (p.Ala271Gly)
|
rs1403352822
|
|
NM_004364.5(CEBPA):c.812C>T (p.Ala271Val)
|
|
|
NM_004364.5(CEBPA):c.815G>A (p.Gly272Asp)
|
|
|
NM_004364.5(CEBPA):c.815G>C (p.Gly272Ala)
|
|
|
NM_004364.5(CEBPA):c.815G>T (p.Gly272Val)
|
rs1162467731
|
|
NM_004364.5(CEBPA):c.816C>T (p.Gly272=)
|
|
|
NM_004364.5(CEBPA):c.817A>G (p.Lys273Glu)
|
|
|
NM_004364.5(CEBPA):c.819G>A (p.Lys273=)
|
rs1600021510
|
|
NM_004364.5(CEBPA):c.81C>G (p.Ser27Arg)
|
rs111662895
|
|
NM_004364.5(CEBPA):c.821C>T (p.Ala274Val)
|
rs767673311
|
|
NM_004364.5(CEBPA):c.824A>C (p.Lys275Thr)
|
|
|
NM_004364.5(CEBPA):c.824A>G (p.Lys275Arg)
|
rs757273086
|
|
NM_004364.5(CEBPA):c.827A>C (p.Lys276Thr)
|
|
|
NM_004364.5(CEBPA):c.830C>A (p.Ser277Ter)
|
rs1269133775
|
|
NM_004364.5(CEBPA):c.831G>A (p.Ser277=)
|
|
|
NM_004364.5(CEBPA):c.831G>T (p.Ser277=)
|
rs764419883
|
|
NM_004364.5(CEBPA):c.835G>T (p.Asp279Tyr)
|
rs1967166324
|
|
NM_004364.5(CEBPA):c.836A>G (p.Asp279Gly)
|
rs1568419375
|
|
NM_004364.5(CEBPA):c.83G>A (p.Ser28Asn)
|
rs2145264621
|
|
NM_004364.5(CEBPA):c.841A>G (p.Asn281Asp)
|
|
|
NM_004364.5(CEBPA):c.844A>C (p.Ser282Arg)
|
|
|
NM_004364.5(CEBPA):c.844A>G (p.Ser282Gly)
|
|
|
NM_004364.5(CEBPA):c.846C>T (p.Ser282=)
|
rs2145259749
|
|
NM_004364.5(CEBPA):c.847A>C (p.Asn283His)
|
|
|
NM_004364.5(CEBPA):c.849C>G (p.Asn283Lys)
|
|
|
NM_004364.5(CEBPA):c.84C>T (p.Ser28=)
|
rs2145264615
|
|
NM_004364.5(CEBPA):c.850G>A (p.Glu284Lys)
|
rs1002344182
|
|
NM_004364.5(CEBPA):c.852G>A (p.Glu284=)
|
rs376856647
|
|
NM_004364.5(CEBPA):c.852G>T (p.Glu284Asp)
|
rs376856647
|
|
NM_004364.5(CEBPA):c.858G>A (p.Arg286=)
|
rs1967165387
|
|
NM_004364.5(CEBPA):c.858G>C (p.Arg286=)
|
rs1967165387
|
|
NM_004364.5(CEBPA):c.859G>C (p.Val287Leu)
|
rs2145259628
|
|
NM_004364.5(CEBPA):c.85G>T (p.Ala29Ser)
|
rs2145264604
|
|
NM_004364.5(CEBPA):c.861_862delinsAA (p.Val287_Arg288=)
|
rs1600021341
|
|
NM_004364.5(CEBPA):c.862C>T (p.Arg288Trp)
|
rs971619935
|
|
NM_004364.5(CEBPA):c.863G>C (p.Arg288Pro)
|
rs1064794962
|
|
NM_004364.5(CEBPA):c.864G>A (p.Arg288=)
|
|
|
NM_004364.5(CEBPA):c.864G>C (p.Arg288=)
|
rs2145259550
|
|
NM_004364.5(CEBPA):c.866G>T (p.Arg289Leu)
|
|
|
NM_004364.5(CEBPA):c.867C>G (p.Arg289=)
|
rs1285276568
|
|
NM_004364.5(CEBPA):c.868G>T (p.Glu290Ter)
|
rs1967164835
|
|
NM_004364.5(CEBPA):c.872G>A (p.Arg291His)
|
rs1967164761
|
|
NM_004364.5(CEBPA):c.875A>G (p.Asn292Ser)
|
rs776590829
|
|
NM_004364.5(CEBPA):c.875ACA[1] (p.Asn293del)
|
|
|
NM_004364.5(CEBPA):c.87C>G (p.Ala29=)
|
rs1600024411
|
|
NM_004364.5(CEBPA):c.87C>T (p.Ala29=)
|
rs1600024411
|
|
NM_004364.5(CEBPA):c.882C>G (p.Ile294Met)
|
rs376093748
|
|
NM_004364.5(CEBPA):c.885G>C (p.Ala295=)
|
rs1967164416
|
|
NM_004364.5(CEBPA):c.88G>T (p.Ala30Ser)
|
rs1555742305
|
|
NM_004364.5(CEBPA):c.890G>C (p.Arg297Pro)
|
rs1600021258
|
|
NM_004364.5(CEBPA):c.890G>T (p.Arg297Leu)
|
rs1600021258
|
|
NM_004364.5(CEBPA):c.891dup (p.Lys298fs)
|
|
|
NM_004364.5(CEBPA):c.894G>A (p.Lys298=)
|
rs1398534556
|
|
NM_004364.5(CEBPA):c.898_913dup (p.Gln305fs)
|
rs1600021166
|
|
NM_004364.5(CEBPA):c.8C>T (p.Ser3Leu)
|
|
|
NM_004364.5(CEBPA):c.901G>A (p.Asp301Asn)
|
rs1967163668
|
|
NM_004364.5(CEBPA):c.906G>A (p.Lys302=)
|
|
|
NM_004364.5(CEBPA):c.907G>A (p.Ala303Thr)
|
rs867994533
|
|
NM_004364.5(CEBPA):c.90C>T (p.Ala30=)
|
|
|
NM_004364.5(CEBPA):c.912G>A (p.Lys304=)
|
|
|
NM_004364.5(CEBPA):c.913C>G (p.Gln305Glu)
|
rs747606716
|
|
NM_004364.5(CEBPA):c.913C>T (p.Gln305Ter)
|
|
|
NM_004364.5(CEBPA):c.914A>G (p.Gln305Arg)
|
rs1479225242
|
|
NM_004364.5(CEBPA):c.916C>A (p.Arg306Ser)
|
|
|
NM_004364.5(CEBPA):c.918C>G (p.Arg306=)
|
|
|
NM_004364.5(CEBPA):c.918_919insGCGCTGCTTGGCCTTGTCGCAGAC (p.Arg306_Asn307insAlaLeuLeuGlyLeuValAlaAsp)
|
|
|
NM_004364.5(CEBPA):c.919A>T (p.Asn307Tyr)
|
|
|
NM_004364.5(CEBPA):c.922G>A (p.Val308Met)
|
rs1182945213
|
|
NM_004364.5(CEBPA):c.922G>T (p.Val308Leu)
|
rs1182945213
|
|
NM_004364.5(CEBPA):c.924G>A (p.Val308=)
|
rs2145258970
|
|
NM_004364.5(CEBPA):c.925G>C (p.Glu309Gln)
|
|
|
NM_004364.5(CEBPA):c.925G>T (p.Glu309Ter)
|
|
|
NM_004364.5(CEBPA):c.925_951dup (p.Glu309_Leu317dup)
|
rs1555741967
|
|
NM_004364.5(CEBPA):c.926A>C (p.Glu309Ala)
|
rs1568419235
|
|
NM_004364.5(CEBPA):c.926A>G (p.Glu309Gly)
|
rs1568419235
|
|
NM_004364.5(CEBPA):c.926_932delinsT (p.Glu309_Gln311delinsVal)
|
|
|
NM_004364.5(CEBPA):c.927G>A (p.Glu309=)
|
|
|
NM_004364.5(CEBPA):c.928_945dup (p.Leu315_Glu316insThrGlnGlnLysValLeu)
|
rs2145258824
|
|
NM_004364.5(CEBPA):c.931C>T (p.Gln311Ter)
|
rs1967162539
|
|
NM_004364.5(CEBPA):c.931CAG[3] (p.Gln312_Lys313insGln)
|
|
|
NM_004364.5(CEBPA):c.932A>C (p.Gln311Pro)
|
rs2145258913
|
|
NM_004364.5(CEBPA):c.932A>T (p.Gln311Leu)
|
rs2145258913
|
|
NM_004364.5(CEBPA):c.934C>T (p.Gln312Ter)
|
|
|
NM_004364.5(CEBPA):c.935_991dup (p.Gln312_Gln330dup)
|
rs1555741948
|
|
NM_004364.5(CEBPA):c.936G>A (p.Gln312=)
|
rs1248876880
|
|
NM_004364.5(CEBPA):c.939G>A (p.Lys313=)
|
rs1600021081
|
|
NM_004364.5(CEBPA):c.93C>G (p.Phe31Leu)
|
|
|
NM_004364.5(CEBPA):c.943C>A (p.Leu315Met)
|
rs2145258835
|
|
NM_004364.5(CEBPA):c.943C>T (p.Leu315=)
|
|
|
NM_004364.5(CEBPA):c.945G>A (p.Leu315=)
|
rs780423965
|
|
NM_004364.5(CEBPA):c.946G>C (p.Glu316Gln)
|
|
|
NM_004364.5(CEBPA):c.946_947insGGA (p.Glu316delinsGlyLys)
|
|
|
NM_004364.5(CEBPA):c.948G>A (p.Glu316=)
|
rs1600021056
|
|
NM_004364.5(CEBPA):c.949C>T (p.Leu317=)
|
|
|
NM_004364.5(CEBPA):c.94G>A (p.Gly32Ser)
|
rs1348778034
|
|
NM_004364.5(CEBPA):c.951G>C (p.Leu317=)
|
|
|
NM_004364.5(CEBPA):c.952A>C (p.Thr318Pro)
|
rs2145258767
|
|
NM_004364.5(CEBPA):c.954C>T (p.Thr318=)
|
rs1201858503
|
|
NM_004364.5(CEBPA):c.955A>C (p.Ser319Arg)
|
rs1555741962
|
|
NM_004364.5(CEBPA):c.955A>G (p.Ser319Gly)
|
rs1555741962
|
|
NM_004364.5(CEBPA):c.956G>T (p.Ser319Ile)
|
rs2145258726
|
|
NM_004364.5(CEBPA):c.960C>T (p.Asp320=)
|
rs746447033
|
|
NM_004364.5(CEBPA):c.963T>C (p.Asn321=)
|
rs2145258662
|
|
NM_004364.5(CEBPA):c.964G>A (p.Asp322Asn)
|
rs2145258655
|
|
NM_004364.5(CEBPA):c.964_965delinsAT (p.Asp322Ile)
|
rs2145258643
|
|
NM_004364.5(CEBPA):c.966C>A (p.Asp322Glu)
|
rs903305652
|
|
NM_004364.5(CEBPA):c.967C>T (p.Arg323Cys)
|
|
|
NM_004364.5(CEBPA):c.968G>T (p.Arg323Leu)
|
rs1421674520
|
|
NM_004364.5(CEBPA):c.96C>A (p.Gly32=)
|
|
|
NM_004364.5(CEBPA):c.970C>T (p.Leu324=)
|
rs2145258597
|
|
NM_004364.5(CEBPA):c.972G>C (p.Leu324=)
|
|
|
NM_004364.5(CEBPA):c.973C>A (p.Arg325Ser)
|
rs781549846
|
|
NM_004364.5(CEBPA):c.978G>A (p.Lys326=)
|
|
|
NM_004364.5(CEBPA):c.982G>A (p.Val328Met)
|
|
|
NM_004364.5(CEBPA):c.982_985del (p.Val328fs)
|
rs1967160131
|
|
NM_004364.5(CEBPA):c.985G>A (p.Glu329Lys)
|
rs1568419162
|
|
NM_004364.5(CEBPA):c.987A>G (p.Glu329=)
|
rs2145258483
|
|
NM_004364.5(CEBPA):c.989A>C (p.Gln330Pro)
|
rs1555741952
|
|
NM_004364.5(CEBPA):c.990G>A (p.Gln330=)
|
rs375876732
|
|
NM_004364.5(CEBPA):c.997C>T (p.Arg333Cys)
|
|
|
NM_004364.5(CEBPA):c.999C>G (p.Arg333=)
|
|
|
NM_004364.5(CEBPA):c.99T>C (p.Phe33=)
|
|
|
NM_004364.5(CEBPA):c.9G>C (p.Ser3=)
|
rs2145265134
|
|
NM_004364.5(CEBPA):c.9G>T (p.Ser3=)
|
rs2145265134
|
|
NM_004752.3(GCM2):c.[1136T>A;751C>G]
|
|
|
NM_004752.4(GCM2):c.1003C>T (p.Pro335Ser)
|
|
|
NM_004752.4(GCM2):c.1148T>C (p.Ile383Thr)
|
rs2113243235
|
|
NM_004752.4(GCM2):c.1166T>C (p.Val389Ala)
|
|
|
NM_004752.4(GCM2):c.1177_1185dup (p.Ala393_Gln395dup)
|
rs551375300
|
|
NM_004752.4(GCM2):c.129C>G (p.Asp43Glu)
|
rs141188465
|
|
NM_004752.4(GCM2):c.1398G>C (p.Glu466Asp)
|
rs537546612
|
|
NM_004752.4(GCM2):c.139C>T (p.Arg47Cys)
|
|
|
NM_004752.4(GCM2):c.1A>G (p.Met1Val)
|
rs2113257238
|
|
NM_004752.4(GCM2):c.307C>T (p.Pro103Ser)
|
rs1561672362
|
|
NM_004752.4(GCM2):c.523A>T (p.Ile175Phe)
|
|
|
NM_004972.4(JAK2):c.1619_1627del (p.Ile540_Glu543delinsLys)
|
|
|
NM_004972.4(JAK2):c.1691G>T (p.Arg564Leu)
|
rs368927897
|
|
NM_004972.4(JAK2):c.1694G>C (p.Arg565Thr)
|
rs2130546358
|
|
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.2624C>A (p.Thr875Asn)
|
rs1057520016
|
|
NM_004985.5(KRAS):c.101C>G (p.Pro34Arg)
|
rs104894366
|
|
NM_004985.5(KRAS):c.112-9C>T
|
rs727504298
|
|
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_004985.5(KRAS):c.388_389delinsAT (p.Ala130Ile)
|
rs1951383854
|
|
NM_004985.5(KRAS):c.458A>T (p.Asp153Val)
|
rs104894360
|
|
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg)
|
rs727503110
|
|
NM_005085.4(NUP214):c.199CTT[1] (p.Leu68del)
|
rs1302128286
|
|
NM_005154.3(USP8):c.[2138T>G;2150A>G]
|
|
|
NM_005154.5(USP8):c.2152T>C (p.Ser718Pro)
|
rs672601307
|
|
NM_005154.5(USP8):c.2152TCC[1] (p.Ser719del)
|
rs672601306
|
|
NM_005154.5(USP8):c.2153C>G (p.Ser718Cys)
|
rs672601308
|
|
NM_005154.5(USP8):c.2159C>G (p.Pro720Arg)
|
rs672601311
|
|
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.2035T>G (p.Ser679Ala)
|
rs201278085
|
|
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.931T>C (p.Phe311Leu)
|
rs137853304
|
|
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>C (p.Phe317Leu)
|
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.-125_-116delinsT
|
rs886047763
|
|
NM_005188.4(CBL):c.107ACC[6] (p.His42del)
|
rs373212940
|
|
NM_005188.4(CBL):c.107ACC[8] (p.His42dup)
|
rs373212940
|
|
NM_005188.4(CBL):c.1096-1G>C
|
rs397517076
|
|
NM_005188.4(CBL):c.1112A>C (p.Tyr371Ser)
|
rs387906666
|
|
NM_005188.4(CBL):c.1112A>G (p.Tyr371Cys)
|
rs387906666
|
|
NM_005188.4(CBL):c.1163A>G (p.Asp388Gly)
|
rs2135303762
|
|
NM_005188.4(CBL):c.1202G>T (p.Cys401Phe)
|
rs1357686410
|
|
NM_005188.4(CBL):c.1228-2A>G
|
rs727504426
|
|
NM_005188.4(CBL):c.1243G>A (p.Gly415Ser)
|
rs756530482
|
|
NM_005188.4(CBL):c.1253T>C (p.Phe418Ser)
|
rs772156285
|
|
NM_005188.4(CBL):c.1298C>A (p.Pro433Gln)
|
rs140627020
|
|
NM_005188.4(CBL):c.1439G>A (p.Arg480Gln)
|
rs1949969239
|
|
NM_005188.4(CBL):c.1618C>T (p.Arg540Ter)
|
rs764340189
|
|
NM_005188.4(CBL):c.1619G>A (p.Arg540Gln)
|
rs980503623
|
|
NM_005188.4(CBL):c.1629A>G (p.Pro543=)
|
rs558577411
|
|
NM_005188.4(CBL):c.1676G>A (p.Arg559Gln)
|
rs143034856
|
|
NM_005188.4(CBL):c.1850G>T (p.Arg617Leu)
|
rs780457588
|
|
NM_005188.4(CBL):c.2050C>T (p.Pro684Ser)
|
rs587778154
|
|
NM_005188.4(CBL):c.2393CCT[1] (p.Ser799del)
|
rs755938138
|
|
NM_005188.4(CBL):c.2435-1_2435del
|
rs749424087
|
|
NM_005188.4(CBL):c.2502A>T (p.Glu834Asp)
|
rs1950085952
|
|
NM_005188.4(CBL):c.2519G>A (p.Cys840Tyr)
|
rs376536789
|
|
NM_005188.4(CBL):c.2654T>C (p.Ile885Thr)
|
|
|
NM_005188.4(CBL):c.434C>G (p.Ser145Cys)
|
|
|
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.1011A>G (p.Glu337=)
|
rs1318577614
|
|
NM_005373.3(MPL):c.1012G>C (p.Glu338Gln)
|
|
|
NM_005373.3(MPL):c.1015A>T (p.Lys339Ter)
|
|
|
NM_005373.3(MPL):c.1017A>G (p.Lys339=)
|
|
|
NM_005373.3(MPL):c.1023T>C (p.Asn341=)
|
rs554597610
|
|
NM_005373.3(MPL):c.1025C>A (p.Pro342Gln)
|
|
|
NM_005373.3(MPL):c.1025del (p.Pro342fs)
|
rs1286303912
|
|
NM_005373.3(MPL):c.1026A>C (p.Pro342=)
|
|
|
NM_005373.3(MPL):c.1033C>T (p.Gln345Ter)
|
|
|
NM_005373.3(MPL):c.1038C>T (p.Thr346=)
|
|
|
NM_005373.3(MPL):c.1043A>G (p.Gln348Arg)
|
|
|
NM_005373.3(MPL):c.1057C>T (p.His353Tyr)
|
|
|
NM_005373.3(MPL):c.105A>G (p.Ser35=)
|
rs2153916223
|
|
NM_005373.3(MPL):c.1063A>G (p.Lys355Glu)
|
rs546510242
|
|
NM_005373.3(MPL):c.1079G>T (p.Ser360Ile)
|
|
|
NM_005373.3(MPL):c.10T>C (p.Trp4Arg)
|
|
|
NM_005373.3(MPL):c.1116G>A (p.Pro372=)
|
rs781733134
|
|
NM_005373.3(MPL):c.1119T>G (p.Gly373=)
|
rs748581599
|
|
NM_005373.3(MPL):c.1143C>T (p.Ser381=)
|
rs2153918638
|
|
NM_005373.3(MPL):c.1145del (p.Pro382fs)
|
|
|
NM_005373.3(MPL):c.1158C>T (p.His386=)
|
|
|
NM_005373.3(MPL):c.1162_1163delinsTA (p.Ala388Tyr)
|
|
|
NM_005373.3(MPL):c.1165+12C>A
|
|
|
NM_005373.3(MPL):c.1165+18_1165+27dup
|
|
|
NM_005373.3(MPL):c.1165+18del
|
|
|
NM_005373.3(MPL):c.1165+1G>C
|
rs775550081
|
|
NM_005373.3(MPL):c.1166-13G>A
|
|
|
NM_005373.3(MPL):c.1166-14T>C
|
|
|
NM_005373.3(MPL):c.1166-1G>C
|
rs2153918730
|
|
NM_005373.3(MPL):c.1166-5T>C
|
|
|
NM_005373.3(MPL):c.1166-6C>T
|
rs1647059033
|
|
NM_005373.3(MPL):c.1166-9T>C
|
|
|
NM_005373.3(MPL):c.1167G>A (p.Val389=)
|
rs2153918731
|
|
NM_005373.3(MPL):c.1168C>T (p.Arg390Cys)
|
|
|
NM_005373.3(MPL):c.1176C>T (p.Pro392=)
|
|
|
NM_005373.3(MPL):c.1182A>C (p.Pro394=)
|
|
|
NM_005373.3(MPL):c.1185C>T (p.Asn395=)
|
|
|
NM_005373.3(MPL):c.1194G>A (p.Trp398Ter)
|
rs1570470199
|
|
NM_005373.3(MPL):c.11G>A (p.Trp4Ter)
|
|
|
NM_005373.3(MPL):c.1200G>A (p.Glu400=)
|
rs2153918759
|
|
NM_005373.3(MPL):c.1215T>C (p.His405=)
|
rs2153918763
|
|
NM_005373.3(MPL):c.1219G>T (p.Glu407Ter)
|
rs2153918764
|
|
NM_005373.3(MPL):c.1231C>T (p.Gln411Ter)
|
|
|
NM_005373.3(MPL):c.1239A>G (p.Pro413=)
|
|
|
NM_005373.3(MPL):c.1242G>C (p.Ser414=)
|
rs544064034
|
|
NM_005373.3(MPL):c.1245C>A (p.Ser415=)
|
rs1002584503
|
|
NM_005373.3(MPL):c.1247G>A (p.Trp416Ter)
|
rs1647059649
|
|
NM_005373.3(MPL):c.1248G>A (p.Trp416Ter)
|
rs2153918792
|
|
NM_005373.3(MPL):c.1249G>A (p.Ala417Thr)
|
|
|
NM_005373.3(MPL):c.1251A>C (p.Ala417=)
|
|
|
NM_005373.3(MPL):c.1254C>G (p.Ala418=)
|
rs1344383290
|
|
NM_005373.3(MPL):c.1258G>C (p.Glu420Gln)
|
|
|
NM_005373.3(MPL):c.1260G>A (p.Glu420=)
|
|
|
NM_005373.3(MPL):c.1263_1264del (p.Cys422fs)
|
rs2153918800
|
|
NM_005373.3(MPL):c.1270C>T (p.Gln424Ter)
|
rs1647060064
|
|
NM_005373.3(MPL):c.1272A>G (p.Gln424=)
|
rs1647060081
|
|
NM_005373.3(MPL):c.1275C>G (p.Leu425=)
|
|
|
NM_005373.3(MPL):c.1299G>A (p.Gln433=)
|
|
|
NM_005373.3(MPL):c.1305G>C (p.Trp435Cys)
|
|
|
NM_005373.3(MPL):c.1305del (p.Asp434_Trp435insTer)
|
rs2153918831
|
|
NM_005373.3(MPL):c.1308+12C>T
|
|
|
NM_005373.3(MPL):c.1308+2T>G
|
|
|
NM_005373.3(MPL):c.1308+8C>A
|
rs376365109
|
|
NM_005373.3(MPL):c.1308+8C>G
|
rs376365109
|
|
NM_005373.3(MPL):c.1309-18G>A
|
|
|
NM_005373.3(MPL):c.1309-18G>T
|
|
|
NM_005373.3(MPL):c.1309-19C>T
|
|
|
NM_005373.3(MPL):c.1309-3dup
|
|
|
NM_005373.3(MPL):c.1309-6G>A
|
rs2153919199
|
|
NM_005373.3(MPL):c.1314G>C (p.Leu438=)
|
|
|
NM_005373.3(MPL):c.1316_1320del (p.Glu439fs)
|
rs1292577132
|
|
NM_005373.3(MPL):c.1319C>G (p.Pro440Arg)
|
|
|
NM_005373.3(MPL):c.1320G>C (p.Pro440=)
|
rs2153919217
|
|
NM_005373.3(MPL):c.1320del (p.Pro441fs)
|
|
|
NM_005373.3(MPL):c.1326C>G (p.Leu442=)
|
|
|
NM_005373.3(MPL):c.1329G>T (p.Gly443=)
|
|
|
NM_005373.3(MPL):c.1338A>G (p.Gly446=)
|
rs530475779
|
|
NM_005373.3(MPL):c.1341G>C (p.Gly447=)
|
|
|
NM_005373.3(MPL):c.1345C>T (p.Leu449=)
|
rs2153919239
|
|
NM_005373.3(MPL):c.1346dup (p.Glu450fs)
|
rs2153919240
|
|
NM_005373.3(MPL):c.1348G>T (p.Glu450Ter)
|
rs1647073222
|
|
NM_005373.3(MPL):c.1351C>T (p.Leu451=)
|
|
|
NM_005373.3(MPL):c.1356C>T (p.Arg452=)
|
rs1647073349
|
|
NM_005373.3(MPL):c.1359G>A (p.Pro453=)
|
rs1262936822
|
|
NM_005373.3(MPL):c.1365T>C (p.Ser455=)
|
|
|
NM_005373.3(MPL):c.1368_1369del (p.Tyr457fs)
|
|
|
NM_005373.3(MPL):c.136G>A (p.Glu46Lys)
|
|
|
NM_005373.3(MPL):c.136G>C (p.Glu46Gln)
|
|
|
NM_005373.3(MPL):c.1371C>T (p.Tyr457=)
|
rs2153919254
|
|
NM_005373.3(MPL):c.1378C>T (p.Gln460Ter)
|
rs1469739934
|
|
NM_005373.3(MPL):c.1381C>T (p.Leu461=)
|
rs2153919261
|
|
NM_005373.3(MPL):c.1389C>T (p.Ala463=)
|
|
|
NM_005373.3(MPL):c.1395C>T (p.Leu465=)
|
|
|
NM_005373.3(MPL):c.1398C>T (p.Asn466=)
|
|
|
NM_005373.3(MPL):c.1401C>T (p.Gly467=)
|
rs2153919286
|
|
NM_005373.3(MPL):c.1407C>T (p.Thr469=)
|
rs2153919290
|
|
NM_005373.3(MPL):c.1419C>T (p.Pro473=)
|
|
|
NM_005373.3(MPL):c.1428G>T (p.Ser476=)
|
rs2153919294
|
|
NM_005373.3(MPL):c.1430G>A (p.Trp477Ter)
|
|
|
NM_005373.3(MPL):c.1434G>A (p.Ser478=)
|
|
|
NM_005373.3(MPL):c.1434G>C (p.Ser478=)
|
rs916392437
|
|
NM_005373.3(MPL):c.1440A>G (p.Pro480=)
|
|
|
NM_005373.3(MPL):c.1452G>A (p.Glu484=)
|
|
|
NM_005373.3(MPL):c.1461C>A (p.Thr487=)
|
|
|
NM_005373.3(MPL):c.1461C>G (p.Thr487=)
|
|
|
NM_005373.3(MPL):c.1462G>T (p.Glu488Ter)
|
rs1302209849
|
|
NM_005373.3(MPL):c.1463_1466dup (p.Ala490fs)
|
rs2153919318
|
|
NM_005373.3(MPL):c.1464G>A (p.Glu488=)
|
|
|
NM_005373.3(MPL):c.1468+10G>A
|
rs2153919323
|
|
NM_005373.3(MPL):c.1468+10G>T
|
|
|
NM_005373.3(MPL):c.1468+11C>A
|
|
|
NM_005373.3(MPL):c.1468+14C>G
|
|
|
NM_005373.3(MPL):c.1468+14C>T
|
|
|
NM_005373.3(MPL):c.1468+1G>A
|
|
|
NM_005373.3(MPL):c.1468+2T>C
|
rs1057517761
|
|
NM_005373.3(MPL):c.1468+6dup
|
|
|
NM_005373.3(MPL):c.1468+7C>A
|
|
|
NM_005373.3(MPL):c.1468+7C>G
|
rs1360335718
|
|
NM_005373.3(MPL):c.1468+7C>T
|
|
|
NM_005373.3(MPL):c.1468+9A>G
|
|
|
NM_005373.3(MPL):c.1469-16C>T
|
|
|
NM_005373.3(MPL):c.1469-17C>A
|
|
|
NM_005373.3(MPL):c.1469-17C>T
|
|
|
NM_005373.3(MPL):c.1469-1G>T
|
rs771729218
|
|
NM_005373.3(MPL):c.1469-2A>T
|
|
|
NM_005373.3(MPL):c.1469-7C>G
|
rs202232618
|
|
NM_005373.3(MPL):c.1473G>C (p.Trp491Cys)
|
rs121913613
|
|
NM_005373.3(MPL):c.1474_1477dup (p.Ser493fs)
|
rs1647077635
|
|
NM_005373.3(MPL):c.147T>C (p.Thr49=)
|
|
|
NM_005373.3(MPL):c.1480T>C (p.Leu494=)
|
|
|
NM_005373.3(MPL):c.1489_1490del (p.Ala497fs)
|
rs2153919403
|
|
NM_005373.3(MPL):c.1491T>C (p.Ala497=)
|
|
|
NM_005373.3(MPL):c.1506G>A (p.Leu502=)
|
|
|
NM_005373.3(MPL):c.150C>T (p.Cys50=)
|
|
|
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.1523dup (p.Leu510fs)
|
|
|
NM_005373.3(MPL):c.1524G>A (p.Leu508=)
|
|
|
NM_005373.3(MPL):c.1527C>A (p.Gly509=)
|
rs1570472144
|
|
NM_005373.3(MPL):c.1527C>T (p.Gly509=)
|
|
|
NM_005373.3(MPL):c.1528CTG[5] (p.Leu513_Arg514insLeu)
|
|
|
NM_005373.3(MPL):c.1532_1535del (p.Leu511fs)
|
rs1332801952
|
|
NM_005373.3(MPL):c.1541G>A (p.Arg514Lys)
|
rs1647078220
|
|
NM_005373.3(MPL):c.1542G>T (p.Arg514Ser)
|
|
|
NM_005373.3(MPL):c.1543_1544delinsAA (p.Trp515Lys)
|
rs121913616
|
|
NM_005373.3(MPL):c.1543_1544delinsGC (p.Trp515Ala)
|
|
|
NM_005373.3(MPL):c.1544G>C (p.Trp515Ser)
|
|
|
NM_005373.3(MPL):c.1546C>T (p.Gln516Ter)
|
rs2153919438
|
|
NM_005373.3(MPL):c.1563C>A (p.Tyr521Ter)
|
rs1392072769
|
|
NM_005373.3(MPL):c.1563C>T (p.Tyr521=)
|
rs1392072769
|
|
NM_005373.3(MPL):c.1565+11C>T
|
|
|
NM_005373.3(MPL):c.1565+12G>A
|
|
|
NM_005373.3(MPL):c.1565+12G>C
|
|
|
NM_005373.3(MPL):c.1565+18C>A
|
|
|
NM_005373.3(MPL):c.1565+19dup
|
|
|
NM_005373.3(MPL):c.1566-14T>C
|
|
|
NM_005373.3(MPL):c.1566-15T>C
|
|
|
NM_005373.3(MPL):c.1566-16C>T
|
|
|
NM_005373.3(MPL):c.1566-19T>C
|
|
|
NM_005373.3(MPL):c.1566-3del
|
rs780125200
|
|
NM_005373.3(MPL):c.1566-6C>T
|
|
|
NM_005373.3(MPL):c.1566-7C>T
|
rs375344403
|
|
NM_005373.3(MPL):c.1567A>G (p.Arg523Gly)
|
|
|
NM_005373.3(MPL):c.1572G>C (p.Leu524=)
|
rs2153919916
|
|
NM_005373.3(MPL):c.1584G>A (p.Leu528=)
|
rs1380383088
|
|
NM_005373.3(MPL):c.159T>C (p.Asp53=)
|
|
|
NM_005373.3(MPL):c.1603C>T (p.Leu535=)
|
|
|
NM_005373.3(MPL):c.1612G>C (p.Val538Leu)
|
|
|
NM_005373.3(MPL):c.1618G>A (p.Gly540Ser)
|
|
|
NM_005373.3(MPL):c.1626C>T (p.Tyr542=)
|
|
|
NM_005373.3(MPL):c.162G>A (p.Glu54=)
|
|
|
NM_005373.3(MPL):c.1635C>T (p.Asp545=)
|
rs374221815
|
|
NM_005373.3(MPL):c.1640C>T (p.Ala547Val)
|
|
|
NM_005373.3(MPL):c.1643C>A (p.Ala548Asp)
|
|
|
NM_005373.3(MPL):c.1647G>A (p.Leu549=)
|
|
|
NM_005373.3(MPL):c.1653+10C>T
|
rs2153919956
|
|
NM_005373.3(MPL):c.1653+13C>T
|
|
|
NM_005373.3(MPL):c.1653+1del
|
rs755257605
|
|
NM_005373.3(MPL):c.1653+20_1653+21del
|
|
|
NM_005373.3(MPL):c.1653+7G>A
|
rs2153919952
|
|
NM_005373.3(MPL):c.1653G>A (p.Pro551=)
|
|
|
NM_005373.3(MPL):c.1654-11A>G
|
|
|
NM_005373.3(MPL):c.1654-20C>T
|
|
|
NM_005373.3(MPL):c.1654-5C>A
|
rs1020318873
|
|
NM_005373.3(MPL):c.1654-5C>T
|
rs1020318873
|
|
NM_005373.3(MPL):c.1654-9C>T
|
rs2153920018
|
|
NM_005373.3(MPL):c.1662C>T (p.Ala554=)
|
|
|
NM_005373.3(MPL):c.1665A>C (p.Thr555=)
|
|
|
NM_005373.3(MPL):c.1669T>G (p.Ser557Ala)
|
|
|
NM_005373.3(MPL):c.1671dup (p.Asp558fs)
|
rs1647100516
|
|
NM_005373.3(MPL):c.1677C>T (p.Thr559=)
|
|
|
NM_005373.3(MPL):c.1678del (p.Cys560fs)
|
|
|
NM_005373.3(MPL):c.1680T>C (p.Cys560=)
|
|
|
NM_005373.3(MPL):c.1683A>G (p.Glu561=)
|
rs202022473
|
|
NM_005373.3(MPL):c.1684G>T (p.Glu562Ter)
|
|
|
NM_005373.3(MPL):c.1686A>G (p.Glu562=)
|
|
|
NM_005373.3(MPL):c.1701C>T (p.Leu567=)
|
|
|
NM_005373.3(MPL):c.1707A>T (p.Glu569Asp)
|
|
|
NM_005373.3(MPL):c.1717A>G (p.Lys573Glu)
|
|
|
NM_005373.3(MPL):c.1719G>A (p.Lys573=)
|
rs774393112
|
|
NM_005373.3(MPL):c.1721C>T (p.Ser574Phe)
|
|
|
NM_005373.3(MPL):c.1725dup (p.Glu576fs)
|
|
|
NM_005373.3(MPL):c.1728G>A (p.Glu576=)
|
|
|
NM_005373.3(MPL):c.1739T>C (p.Leu580Ser)
|
|
|
NM_005373.3(MPL):c.1743C>G (p.Pro581=)
|
|
|
NM_005373.3(MPL):c.1744C>G (p.Leu582Val)
|
rs2153920065
|
|
NM_005373.3(MPL):c.1745del (p.Leu582fs)
|
|
|
NM_005373.3(MPL):c.1748_1749del (p.Cys583fs)
|
|
|
NM_005373.3(MPL):c.1761C>T (p.Ala587=)
|
rs1647101111
|
|
NM_005373.3(MPL):c.1766T>C (p.Met589Thr)
|
|
|
NM_005373.3(MPL):c.1782G>A (p.Leu594=)
|
|
|
NM_005373.3(MPL):c.1795C>T (p.Leu599=)
|
|
|
NM_005373.3(MPL):c.1809C>G (p.Pro603=)
|
rs374553815
|
|
NM_005373.3(MPL):c.1810_1811del (p.Leu604fs)
|
|
|
NM_005373.3(MPL):c.1810dup (p.Leu604fs)
|
|
|
NM_005373.3(MPL):c.1812G>C (p.Leu604=)
|
|
|
NM_005373.3(MPL):c.1814_1817del (p.Ser605fs)
|
rs1402847914
|
|
NM_005373.3(MPL):c.1815T>C (p.Ser605=)
|
|
|
NM_005373.3(MPL):c.1818G>A (p.Val606=)
|
rs2153920103
|
|
NM_005373.3(MPL):c.1827C>A (p.Pro609=)
|
|
|
NM_005373.3(MPL):c.1841G>C (p.Gly614Ala)
|
|
|
NM_005373.3(MPL):c.1842G>A (p.Gly614=)
|
|
|
NM_005373.3(MPL):c.1857C>T (p.Thr619=)
|
rs2153920125
|
|
NM_005373.3(MPL):c.1860C>T (p.His620=)
|
|
|
NM_005373.3(MPL):c.1893T>C (p.Tyr631=)
|
|
|
NM_005373.3(MPL):c.1897C>T (p.Gln633Ter)
|
|
|
NM_005373.3(MPL):c.189C>A (p.Tyr63Ter)
|
rs1373623383
|
|
NM_005373.3(MPL):c.189C>G (p.Tyr63Ter)
|
rs1373623383
|
|
NM_005373.3(MPL):c.1904C>T (p.Pro635Leu)
|
rs121913612
|
|
NM_005373.3(MPL):c.1905T>C (p.Pro635=)
|
|
|
NM_005373.3(MPL):c.190C>T (p.Gln64Ter)
|
rs2153916273
|
|
NM_005373.3(MPL):c.192G>A (p.Gln64=)
|
|
|
NM_005373.3(MPL):c.196C>T (p.Leu66=)
|
rs886046349
|
|
NM_005373.3(MPL):c.198G>A (p.Leu66=)
|
rs1647007308
|
|
NM_005373.3(MPL):c.206A>G (p.Tyr69Cys)
|
|
|
NM_005373.3(MPL):c.207C>T (p.Tyr69=)
|
rs2153916283
|
|
NM_005373.3(MPL):c.209del (p.Pro70fs)
|
|
|
NM_005373.3(MPL):c.212+10G>A
|
|
|
NM_005373.3(MPL):c.212+17G>A
|
|
|
NM_005373.3(MPL):c.212+17G>T
|
|
|
NM_005373.3(MPL):c.212+1G>A
|
rs142565191
|
|
NM_005373.3(MPL):c.212+8C>T
|
|
|
NM_005373.3(MPL):c.213-12C>T
|
|
|
NM_005373.3(MPL):c.213-1G>A
|
|
|
NM_005373.3(MPL):c.213-20G>C
|
|
|
NM_005373.3(MPL):c.213-6C>T
|
rs1647009547
|
|
NM_005373.3(MPL):c.213-7C>T
|
rs2153916416
|
|
NM_005373.3(MPL):c.214G>T (p.Glu72Ter)
|
rs1406715863
|
|
NM_005373.3(MPL):c.219G>A (p.Lys73=)
|
|
|
NM_005373.3(MPL):c.224G>A (p.Arg75His)
|
|
|
NM_005373.3(MPL):c.234C>G (p.Pro78=)
|
|
|
NM_005373.3(MPL):c.234C>T (p.Pro78=)
|
|
|
NM_005373.3(MPL):c.236del (p.Leu79fs)
|
|
|
NM_005373.3(MPL):c.252del (p.Met84fs)
|
rs2153916450
|
|
NM_005373.3(MPL):c.255C>T (p.Pro85=)
|
rs1557463066
|
|
NM_005373.3(MPL):c.264A>T (p.Gly88=)
|
|
|
NM_005373.3(MPL):c.268C>T (p.Arg90Ter)
|
rs763144679
|
|
NM_005373.3(MPL):c.273C>A (p.Tyr91Ter)
|
rs759361904
|
|
NM_005373.3(MPL):c.278_285dup (p.Pro96fs)
|
|
|
NM_005373.3(MPL):c.279C>T (p.Cys93=)
|
rs2153916471
|
|
NM_005373.3(MPL):c.27C>T (p.Val9=)
|
rs1343948119
|
|
NM_005373.3(MPL):c.305G>A (p.Arg102His)
|
rs28928907
|
|
NM_005373.3(MPL):c.306T>A (p.Arg102=)
|
rs140354935
|
|
NM_005373.3(MPL):c.306T>C (p.Arg102=)
|
|
|
NM_005373.3(MPL):c.308del (p.Leu103fs)
|
rs1361003749
|
|
NM_005373.3(MPL):c.309C>A (p.Leu103=)
|
|
|
NM_005373.3(MPL):c.311del (p.Phe104fs)
|
rs2153916495
|
|
NM_005373.3(MPL):c.313_316del (p.Phe105fs)
|
rs2153916498
|
|
NM_005373.3(MPL):c.315T>C (p.Phe105=)
|
rs2153916507
|
|
NM_005373.3(MPL):c.317C>T (p.Pro106Leu)
|
rs750046020
|
|
NM_005373.3(MPL):c.333G>A (p.Val111=)
|
rs1570464811
|
|
NM_005373.3(MPL):c.338A>T (p.Asn113Ile)
|
|
|
NM_005373.3(MPL):c.339T>C (p.Asn113=)
|
|
|
NM_005373.3(MPL):c.358C>T (p.Arg120Trp)
|
|
|
NM_005373.3(MPL):c.366G>A (p.Gln122=)
|
|
|
NM_005373.3(MPL):c.367C>A (p.Arg123=)
|
|
|
NM_005373.3(MPL):c.367C>T (p.Arg123Ter)
|
rs1443655691
|
|
NM_005373.3(MPL):c.368G>A (p.Arg123Gln)
|
|
|
NM_005373.3(MPL):c.378del (p.Phe126fs)
|
rs587778515
|
|
NM_005373.3(MPL):c.388_389del (p.Val130fs)
|
|
|
NM_005373.3(MPL):c.391+13C>T
|
|
|
NM_005373.3(MPL):c.391+18G>A
|
|
|
NM_005373.3(MPL):c.391+19T>C
|
|
|
NM_005373.3(MPL):c.391+19T>G
|
|
|
NM_005373.3(MPL):c.392-13G>C
|
|
|
NM_005373.3(MPL):c.392-15_392-14del
|
|
|
NM_005373.3(MPL):c.392-16C>T
|
|
|
NM_005373.3(MPL):c.392-20G>A
|
|
|
NM_005373.3(MPL):c.392-8G>C
|
|
|
NM_005373.3(MPL):c.392-8G>T
|
|
|
NM_005373.3(MPL):c.392-9T>C
|
rs2153916670
|
|
NM_005373.3(MPL):c.399G>A (p.Pro133=)
|
rs768283382
|
|
NM_005373.3(MPL):c.402T>C (p.Ala134=)
|
|
|
NM_005373.3(MPL):c.404C>G (p.Pro135Arg)
|
|
|
NM_005373.3(MPL):c.407C>A (p.Pro136His)
|
rs764904424
|
|
NM_005373.3(MPL):c.407C>T (p.Pro136Leu)
|
|
|
NM_005373.3(MPL):c.408C>A (p.Pro136=)
|
rs146579984
|
|
NM_005373.3(MPL):c.408C>G (p.Pro136=)
|
rs146579984
|
|
NM_005373.3(MPL):c.413del (p.Ile138fs)
|
rs1343123940
|
|
NM_005373.3(MPL):c.417C>T (p.Ile139=)
|
|
|
NM_005373.3(MPL):c.417dup (p.Lys140fs)
|
|
|
NM_005373.3(MPL):c.420G>A (p.Lys140=)
|
rs2153916692
|
|
NM_005373.3(MPL):c.423C>T (p.Ala141=)
|
rs2153916694
|
|
NM_005373.3(MPL):c.42C>T (p.Leu14=)
|
rs2153916109
|
|
NM_005373.3(MPL):c.432G>A (p.Gly144=)
|
|
|
NM_005373.3(MPL):c.432G>C (p.Gly144=)
|
rs2153916702
|
|
NM_005373.3(MPL):c.432dup (p.Ser145fs)
|
|
|
NM_005373.3(MPL):c.444G>T (p.Gly148=)
|
|
|
NM_005373.3(MPL):c.445G>A (p.Glu149Lys)
|
rs267598615
|
|
NM_005373.3(MPL):c.447A>G (p.Glu149=)
|
rs2153916718
|
|
NM_005373.3(MPL):c.455del (p.Ile152fs)
|
rs1647014461
|
|
NM_005373.3(MPL):c.459C>T (p.Ser153=)
|
|
|
NM_005373.3(MPL):c.465G>A (p.Glu155=)
|
|
|
NM_005373.3(MPL):c.478G>T (p.Glu160Ter)
|
rs768536266
|
|
NM_005373.3(MPL):c.492C>T (p.Phe164=)
|
rs1343497787
|
|
NM_005373.3(MPL):c.493C>T (p.Leu165=)
|
|
|
NM_005373.3(MPL):c.501C>T (p.Tyr167=)
|
rs1647014738
|
|
NM_005373.3(MPL):c.502G>A (p.Glu168Lys)
|
|
|
NM_005373.3(MPL):c.517C>G (p.Pro173Ala)
|
|
|
NM_005373.3(MPL):c.51T>G (p.Pro17=)
|
rs2153916114
|
|
NM_005373.3(MPL):c.525T>C (p.Asp175=)
|
|
|
NM_005373.3(MPL):c.530A>C (p.Lys177Thr)
|
|
|
NM_005373.3(MPL):c.531G>A (p.Lys177=)
|
rs2153916772
|
|
NM_005373.3(MPL):c.535T>C (p.Ser179Pro)
|
|
|
NM_005373.3(MPL):c.540T>C (p.Thr180=)
|
rs2153916776
|
|
NM_005373.3(MPL):c.549G>T (p.Thr183=)
|
|
|
NM_005373.3(MPL):c.556C>A (p.Gln186Lys)
|
|
|
NM_005373.3(MPL):c.556C>G (p.Gln186Glu)
|
|
|
NM_005373.3(MPL):c.561G>A (p.Leu187=)
|
rs1570465392
|
|
NM_005373.3(MPL):c.567C>T (p.Ala189=)
|
|
|
NM_005373.3(MPL):c.576C>T (p.Thr192=)
|
rs2153916800
|
|
NM_005373.3(MPL):c.579C>T (p.Cys193=)
|
rs747962998
|
|
NM_005373.3(MPL):c.57C>A (p.Asn19Lys)
|
|
|
NM_005373.3(MPL):c.582C>A (p.Cys194Ter)
|
|
|
NM_005373.3(MPL):c.585T>C (p.Pro195=)
|
|
|
NM_005373.3(MPL):c.593A>G (p.Gln198Arg)
|
|
|
NM_005373.3(MPL):c.603_606del (p.His201fs)
|
rs1438181248
|
|
NM_005373.3(MPL):c.613G>A (p.Ala205Thr)
|
|
|
NM_005373.3(MPL):c.632G>A (p.Cys211Tyr)
|
|
|
NM_005373.3(MPL):c.639G>A (p.Gln213=)
|
|
|
NM_005373.3(MPL):c.655dup (p.Gln219fs)
|
rs1647016174
|
|
NM_005373.3(MPL):c.663A>G (p.Gly221=)
|
rs1647016206
|
|
NM_005373.3(MPL):c.669G>A (p.Lys223=)
|
|
|
NM_005373.3(MPL):c.684T>C (p.Ser228=)
|
rs766536759
|
|
NM_005373.3(MPL):c.690+10C>G
|
rs1160632727
|
|
NM_005373.3(MPL):c.690+15T>C
|
|
|
NM_005373.3(MPL):c.690+19G>A
|
|
|
NM_005373.3(MPL):c.690+20C>T
|
|
|
NM_005373.3(MPL):c.690+2T>A
|
rs2153916885
|
|
NM_005373.3(MPL):c.690+2T>C
|
|
|
NM_005373.3(MPL):c.690+7T>C
|
|
|
NM_005373.3(MPL):c.690+8_690+12dup
|
|
|
NM_005373.3(MPL):c.691-12T>A
|
|
|
NM_005373.3(MPL):c.691-16G>C
|
|
|
NM_005373.3(MPL):c.691-17G>A
|
|
|
NM_005373.3(MPL):c.691-4C>T
|
|
|
NM_005373.3(MPL):c.691-7T>C
|
|
|
NM_005373.3(MPL):c.696A>G (p.Ser232=)
|
|
|
NM_005373.3(MPL):c.696A>T (p.Ser232=)
|
rs767614158
|
|
NM_005373.3(MPL):c.69C>A (p.Val23=)
|
rs2153916126
|
|
NM_005373.3(MPL):c.6C>T (p.Pro2=)
|
rs2153916091
|
|
NM_005373.3(MPL):c.709G>A (p.Glu237Lys)
|
|
|
NM_005373.3(MPL):c.709G>T (p.Glu237Ter)
|
|
|
NM_005373.3(MPL):c.723C>T (p.Cys241=)
|
rs2153917030
|
|
NM_005373.3(MPL):c.744_747dup (p.Asn250fs)
|
rs587778518
|
|
NM_005373.3(MPL):c.768G>A (p.Leu256=)
|
rs1570465882
|
|
NM_005373.3(MPL):c.771C>A (p.Arg257=)
|
rs1553127722
|
|
NM_005373.3(MPL):c.774C>T (p.Ser258=)
|
rs746721066
|
|
NM_005373.3(MPL):c.783T>C (p.Asp261=)
|
rs749648068
|
|
NM_005373.3(MPL):c.79+10A>C
|
|
|
NM_005373.3(MPL):c.79+15G>A
|
|
|
NM_005373.3(MPL):c.79+15G>C
|
|
|
NM_005373.3(MPL):c.79+16G>T
|
|
|
NM_005373.3(MPL):c.79+17G>A
|
|
|
NM_005373.3(MPL):c.79+17G>T
|
|
|
NM_005373.3(MPL):c.79+18T>C
|
|
|
NM_005373.3(MPL):c.79+19G>A
|
|
|
NM_005373.3(MPL):c.79+1G>A
|
|
|
NM_005373.3(MPL):c.79+1G>T
|
rs1647004958
|
|
NM_005373.3(MPL):c.79+20G>A
|
|
|
NM_005373.3(MPL):c.79+7T>C
|
rs2153916135
|
|
NM_005373.3(MPL):c.79+8G>C
|
|
|
NM_005373.3(MPL):c.79+9C>G
|
|
|
NM_005373.3(MPL):c.79+9C>T
|
|
|
NM_005373.3(MPL):c.793del (p.Leu265fs)
|
rs1647020172
|
|
NM_005373.3(MPL):c.80-11C>A
|
|
|
NM_005373.3(MPL):c.80-15C>T
|
|
|
NM_005373.3(MPL):c.80-17C>T
|
|
|
NM_005373.3(MPL):c.80-19C>T
|
|
|
NM_005373.3(MPL):c.80-7T>C
|
rs2153916207
|
|
NM_005373.3(MPL):c.80-9G>T
|
rs2153916206
|
|
NM_005373.3(MPL):c.807G>A (p.Trp269Ter)
|
rs1647020318
|
|
NM_005373.3(MPL):c.837C>T (p.Asp279=)
|
|
|
NM_005373.3(MPL):c.840del (p.Pro281fs)
|
|
|
NM_005373.3(MPL):c.842del (p.Pro281fs)
|
rs2153917100
|
|
NM_005373.3(MPL):c.844G>A (p.Gly282Arg)
|
rs878854770
|
|
NM_005373.3(MPL):c.853+10C>G
|
|
|
NM_005373.3(MPL):c.853+10C>T
|
|
|
NM_005373.3(MPL):c.853+10del
|
|
|
NM_005373.3(MPL):c.853+15G>A
|
|
|
NM_005373.3(MPL):c.853+18T>C
|
|
|
NM_005373.3(MPL):c.853+18T>G
|
|
|
NM_005373.3(MPL):c.853+18del
|
|
|
NM_005373.3(MPL):c.853+7C>A
|
rs2153917115
|
|
NM_005373.3(MPL):c.854-14T>C
|
|
|
NM_005373.3(MPL):c.854-15C>T
|
|
|
NM_005373.3(MPL):c.854-1G>A
|
|
|
NM_005373.3(MPL):c.870A>G (p.Gln290=)
|
|
|
NM_005373.3(MPL):c.873C>A (p.Cys291Ter)
|
|
|
NM_005373.3(MPL):c.876T>C (p.Phe292=)
|
|
|
NM_005373.3(MPL):c.879C>G (p.Thr293=)
|
|
|
NM_005373.3(MPL):c.89T>A (p.Leu30Ter)
|
|
|
NM_005373.3(MPL):c.89T>C (p.Leu30Ser)
|
|
|
NM_005373.3(MPL):c.916C>T (p.Gln306Ter)
|
|
|
NM_005373.3(MPL):c.921C>T (p.Asp307=)
|
rs764243911
|
|
NM_005373.3(MPL):c.923A>T (p.His308Leu)
|
|
|
NM_005373.3(MPL):c.933C>T (p.Ser311=)
|
rs2153917221
|
|
NM_005373.3(MPL):c.939C>G (p.Gly313=)
|
|
|
NM_005373.3(MPL):c.948C>A (p.Tyr316Ter)
|
|
|
NM_005373.3(MPL):c.94G>A (p.Ala32Thr)
|
|
|
NM_005373.3(MPL):c.94del (p.Ala32fs)
|
rs2153916214
|
|
NM_005373.3(MPL):c.956G>A (p.Arg319Lys)
|
|
|
NM_005373.3(MPL):c.957G>A (p.Arg319=)
|
|
|
NM_005373.3(MPL):c.961C>T (p.Arg321Trp)
|
|
|
NM_005373.3(MPL):c.963G>C (p.Arg321=)
|
|
|
NM_005373.3(MPL):c.96A>C (p.Ala32=)
|
|
|
NM_005373.3(MPL):c.96A>G (p.Ala32=)
|
rs1647006420
|
|
NM_005373.3(MPL):c.972_973del (p.Asp326fs)
|
rs2153917276
|
|
NM_005373.3(MPL):c.972del (p.Arg325fs)
|
rs770457041
|
|
NM_005373.3(MPL):c.980+14T>C
|
|
|
NM_005373.3(MPL):c.980+16C>T
|
|
|
NM_005373.3(MPL):c.980+2T>A
|
rs1647023010
|
|
NM_005373.3(MPL):c.981-11C>T
|
|
|
NM_005373.3(MPL):c.981-8G>A
|
|
|
NM_005373.3(MPL):c.987C>A (p.Pro329=)
|
rs144491350
|
|
NM_005373.3(MPL):c.987C>G (p.Pro329=)
|
|
|
NM_005373.3(MPL):c.988A>T (p.Ile330Phe)
|
rs1647056598
|
|
NM_005373.3(MPL):c.999C>T (p.Asn333=)
|
rs1053884539
|
|
NM_005373.3(MPL):c.9C>G (p.Ser3=)
|
|
|
NM_005475.3(SH2B3):c.1325A>C (p.Gln442Pro)
|
|
|
NM_005475.3(SH2B3):c.603_607del (p.Arg202fs)
|
rs587776885
|
|
NM_005475.3(SH2B3):c.89G>A (p.Cys30Tyr)
|
|
|
NM_005551.5(KLK2):c.748C>T (p.Arg250Trp)
|
|
|
NM_005634.3(SOX3):c.735_737dup (p.Ala248dup)
|
rs398124211
|
|
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_005896.4(IDH1):c.839C>T (p.Ser280Phe)
|
rs757389021
|
|
NM_006060.6(IKZF1):c.1474T>G (p.Cys492Gly)
|
|
|
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.1078G>A (p.Glu360Lys)
|
rs876658337
|
|
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys)
|
rs587782527
|
|
NM_007194.4(CHEK2):c.1263del (p.Ser422fs)
|
rs587780174
|
|
NM_007194.4(CHEK2):c.1375+3A>G
|
rs876659868
|
|
NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln)
|
rs587782489
|
|
NM_007194.4(CHEK2):c.216T>G (p.Tyr72Ter)
|
rs587781705
|
|
NM_007194.4(CHEK2):c.319+3965C>T
|
rs766676371
|
|
NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter)
|
rs200917541
|
|
NM_007194.4(CHEK2):c.444+2T>C
|
rs560596101
|
|
NM_007194.4(CHEK2):c.49G>T (p.Ala17Ser)
|
rs137853008
|
|
NM_007194.4(CHEK2):c.593-1G>T
|
rs786203229
|
|
NM_007194.4(CHEK2):c.684-2A>G
|
rs2053419665
|
|
NM_007194.4(CHEK2):c.686G>A (p.Gly229Asp)
|
rs778212685
|
|
NM_007194.4(CHEK2):c.742A>G (p.Ile248Val)
|
rs779457035
|
|
NM_007194.4(CHEK2):c.749TCA[1] (p.Ile251del)
|
rs1601783129
|
|
NM_007194.4(CHEK2):c.793-1G>A
|
rs730881687
|
|
NM_007194.4(CHEK2):c.796C>A (p.Pro266Thr)
|
rs1601777776
|
|
NM_007194.4(CHEK2):c.920G>A (p.Gly307Glu)
|
rs876661053
|
|
NM_007194.4(CHEK2):c.967A>C (p.Thr323Pro)
|
rs750984976
|
|
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_015061.6(KDM4C):c.1112G>A (p.Arg371Gln)
|
|
|
NM_015061.6(KDM4C):c.2320G>A (p.Ala774Thr)
|
|
|
NM_015338.6(ASXL1):c.1892_1938del (p.His631fs)
|
|
|
NM_015338.6(ASXL1):c.1900_1922del (p.Glu635fs)
|
rs766433101
|
|
NM_015355.4(SUZ12):c.1150_1151del (p.Leu385fs)
|
rs1909527513
|
|
NM_015559.3(SETBP1):c.2608G>A (p.Gly870Ser)
|
rs267607040
|
|
NM_015922.3(NSDHL):c.1031A>G (p.Lys344Arg)
|
rs2125017628
|
|
NM_015922.3(NSDHL):c.1038_1041dup (p.Gly348fs)
|
rs797045835
|
|
NM_015922.3(NSDHL):c.1046A>G (p.Tyr349Cys)
|
rs137853863
|
|
NM_015922.3(NSDHL):c.1054C>G (p.Leu352Val)
|
rs142351862
|
|
NM_015922.3(NSDHL):c.1114del (p.Val372fs)
|
rs587784222
|
|
NM_015922.3(NSDHL):c.262C>T (p.Arg88Ter)
|
rs104894903
|
|
NM_015922.3(NSDHL):c.268-15dup
|
rs782031217
|
|
NM_015922.3(NSDHL):c.314C>T (p.Ala105Val)
|
rs104894909
|
|
NM_015922.3(NSDHL):c.317C>T (p.Ser106Leu)
|
rs1602937895
|
|
NM_015922.3(NSDHL):c.387del (p.Ile129fs)
|
|
|
NM_015922.3(NSDHL):c.43C>T (p.Arg15Trp)
|
|
|
NM_015922.3(NSDHL):c.451G>T (p.Glu151Ter)
|
rs104894905
|
|
NM_015922.3(NSDHL):c.544G>C (p.Ala182Pro)
|
rs104894904
|
|
NM_015922.3(NSDHL):c.595C>T (p.Arg199Cys)
|
rs587784223
|
|
NM_015922.3(NSDHL):c.613G>A (p.Gly205Ser)
|
rs104894901
|
|
NM_015922.3(NSDHL):c.628C>T (p.Gln210Ter)
|
rs104894902
|
|
NM_015922.3(NSDHL):c.727G>A (p.Val243Met)
|
rs587784224
|
|
NM_015922.3(NSDHL):c.757C>T (p.Gln253Ter)
|
rs141571609
|
|
NM_015922.3(NSDHL):c.904del (p.Tyr302fs)
|
rs587784225
|
|
NM_015922.3(NSDHL):c.906C>A (p.Tyr302Ter)
|
rs587784226
|
|
NM_016222.3:c.[711G>T;712C>A]
|
|
|
NM_016222.4(DDX41):c.1586_1587del (p.Thr529fs)
|
rs866179648
|
|
NM_016222.4(DDX41):c.719delinsCG (p.Ile240fs)
|
rs1761157695
|
|
NM_017617.5(NOTCH1):c.2296G>A (p.Gly766Ser)
|
|
|
NM_017849.4(TMEM127):c.31G>T (p.Gly11Cys)
|
rs992633976
|
|
NM_022124.6(CDH23):c.1087del (p.Val363fs)
|
rs747955135
|
|
NM_022124.6(CDH23):c.1120_1123del (p.Val374fs)
|
|
|
NM_022124.6(CDH23):c.1143_1176del
|
rs764949139
|
|
NM_022124.6(CDH23):c.1270G>A (p.Val424Met)
|
rs2305207
|
|
NM_022124.6(CDH23):c.1386_1389del (p.Gln462fs)
|
rs1862873659
|
|
NM_022124.6(CDH23):c.1417G>A (p.Val473Ile)
|
rs771847607
|
|
NM_022124.6(CDH23):c.1428dup (p.Thr477fs)
|
rs750803248
|
|
NM_022124.6(CDH23):c.1447delinsTTT (p.Leu483fs)
|
|
|
NM_022124.6(CDH23):c.1535C>T (p.Thr512Met)
|
|
|
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.2206C>T (p.Arg736Ter)
|
rs1230303971
|
|
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.2745C>G (p.Ile915Met)
|
rs183220886
|
|
NM_022124.6(CDH23):c.2842G>T (p.Val948Phe)
|
rs2132740122
|
|
NM_022124.6(CDH23):c.2844dup (p.Thr949fs)
|
|
|
NM_022124.6(CDH23):c.2846C>T (p.Thr949Ile)
|
|
|
NM_022124.6(CDH23):c.2863C>A (p.Arg955Ser)
|
rs765094120
|
|
NM_022124.6(CDH23):c.2863C>T (p.Arg955Cys)
|
rs765094120
|
|
NM_022124.6(CDH23):c.2864G>A (p.Arg955His)
|
rs758293939
|
|
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.3330C>G (p.Ser1110Arg)
|
rs371962929
|
|
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.3655C>T (p.Arg1219Ter)
|
rs2132820264
|
|
NM_022124.6(CDH23):c.3706C>T (p.Arg1236Ter)
|
rs397517327
|
|
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.3862C>T (p.Gln1288Ter)
|
|
|
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.4136G>T (p.Arg1379Leu)
|
rs767004225
|
|
NM_022124.6(CDH23):c.4195G>A (p.Asp1399Asn)
|
|
|
NM_022124.6(CDH23):c.4207-2A>G
|
|
|
NM_022124.6(CDH23):c.4209+1G>T
|
rs727503841
|
|
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.4488G>C (p.Gln1496His)
|
rs121908347
|
|
NM_022124.6(CDH23):c.4617+5G>C
|
rs772189237
|
|
NM_022124.6(CDH23):c.4720_4721del (p.Met1574fs)
|
|
|
NM_022124.6(CDH23):c.4759_4766del (p.Thr1587fs)
|
rs759981467
|
|
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.5116C>T (p.Arg1706Cys)
|
rs759876454
|
|
NM_022124.6(CDH23):c.5125del (p.Thr1708_Leu1709insTer)
|
rs2132927249
|
|
NM_022124.6(CDH23):c.5130C>T (p.Ile1710=)
|
rs111033487
|
|
NM_022124.6(CDH23):c.5147A>C (p.Gln1716Pro)
|
rs758382198
|
|
NM_022124.6(CDH23):c.5188-1G>A
|
|
|
NM_022124.6(CDH23):c.5277_5283del (p.Gly1760fs)
|
|
|
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu)
|
rs74145660
|
|
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.5712+1G>A
|
rs397517341
|
|
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.6133G>A (p.Asp2045Asn)
|
rs121908348
|
|
NM_022124.6(CDH23):c.624+1G>A
|
|
|
NM_022124.6(CDH23):c.6307G>T (p.Glu2103Ter)
|
rs1397549896
|
|
NM_022124.6(CDH23):c.6311_6344delinsCCA (p.Leu2104fs)
|
|
|
NM_022124.6(CDH23):c.6344del (p.Arg2115fs)
|
rs1589424694
|
|
NM_022124.6(CDH23):c.6346_6347del (p.Phe2116fs)
|
|
|
NM_022124.6(CDH23):c.6377delinsCGT (p.Arg2126fs)
|
|
|
NM_022124.6(CDH23):c.6393del (p.Ile2132fs)
|
rs754876029
|
|
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.6620del (p.Leu2207fs)
|
|
|
NM_022124.6(CDH23):c.6654C>A (p.Asp2218Glu)
|
rs537236734
|
|
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.6841G>A (p.Val2281Ile)
|
rs2132965400
|
|
NM_022124.6(CDH23):c.6942del (p.Leu2315fs)
|
|
|
NM_022124.6(CDH23):c.6944_6945del (p.Leu2315fs)
|
|
|
NM_022124.6(CDH23):c.6968del (p.Pro2323fs)
|
rs397517350
|
|
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.7101G>A (p.Trp2367Ter)
|
|
|
NM_022124.6(CDH23):c.7113C>T (p.Thr2371=)
|
rs747544364
|
|
NM_022124.6(CDH23):c.7210C>T (p.Gln2404Ter)
|
rs2132968121
|
|
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.778G>T (p.Ala260Ser)
|
rs373294595
|
|
NM_022124.6(CDH23):c.7841del (p.Pro2614fs)
|
|
|
NM_022124.6(CDH23):c.7849G>C (p.Gly2617Arg)
|
rs369379727
|
|
NM_022124.6(CDH23):c.7872G>A (p.Glu2624=)
|
rs1292050472
|
|
NM_022124.6(CDH23):c.7902_7903insTTACGAG (p.Val2635fs)
|
rs1221464948
|
|
NM_022124.6(CDH23):c.7908C>A (p.Tyr2636Ter)
|
|
|
NM_022124.6(CDH23):c.7908C>G (p.Tyr2636Ter)
|
rs878853337
|
|
NM_022124.6(CDH23):c.7987TTC[1] (p.Phe2664del)
|
rs774559018
|
|
NM_022124.6(CDH23):c.8120_8121delinsTT (p.Pro2707Leu)
|
rs876657422
|
|
NM_022124.6(CDH23):c.8121G>T (p.Pro2707=)
|
rs377535432
|
|
NM_022124.6(CDH23):c.8197C>T (p.Gln2733Ter)
|
rs1841758961
|
|
NM_022124.6(CDH23):c.8229C>T (p.Arg2743=)
|
rs372996083
|
|
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.8432G>A (p.Trp2811Ter)
|
rs1841773052
|
|
NM_022124.6(CDH23):c.8443del (p.Arg2815fs)
|
|
|
NM_022124.6(CDH23):c.8498G>A (p.Arg2833His)
|
rs534575559
|
|
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.9284dup (p.Arg3096fs)
|
rs1564808024
|
|
NM_022124.6(CDH23):c.9319+1G>T
|
|
|
NM_022124.6(CDH23):c.9381-2A>G
|
|
|
NM_022124.6(CDH23):c.9412C>T (p.Arg3138Trp)
|
rs1052484950
|
|
NM_022124.6(CDH23):c.9471_9474del (p.Ser3157fs)
|
|
|
NM_022124.6(CDH23):c.9489G>A (p.Trp3163Ter)
|
|
|
NM_022124.6(CDH23):c.9556C>T (p.Arg3186Ter)
|
rs773464867
|
|
NM_022124.6(CDH23):c.9629_9632del (p.Ile3210fs)
|
rs397517367
|
|
NM_022124.6(CDH23):c.9658del (p.Glu3220fs)
|
rs922700209
|
|
NM_022124.6(CDH23):c.9700del (p.Val3234fs)
|
|
|
NM_022124.6(CDH23):c.9726del (p.Ser3243fs)
|
rs767176528
|
|
NM_022124.6(CDH23):c.9738+1G>T
|
|
|
NM_022124.6(CDH23):c.9885C>T (p.Thr3295=)
|
rs1382062973
|
|
NM_022455.5(NSD1):c.1854del (p.Lys618_Val619insTer)
|
rs1562206791
|
|
NM_022455.5(NSD1):c.2008G>A (p.Asp670Asn)
|
rs1554189230
|
|
NM_022455.5(NSD1):c.2362C>T (p.Arg788Ter)
|
rs1057520339
|
|
NM_022455.5(NSD1):c.4378+1G>A
|
rs587784115
|
|
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.1035_1045del (p.Met345fs)
|
rs1573338559
|
|
NM_022552.5(DNMT3A):c.1676G>A (p.Cys559Tyr)
|
rs1313738991
|
|
NM_022552.5(DNMT3A):c.2204A>G (p.Tyr735Cys)
|
rs147828672
|
|
NM_022552.5(DNMT3A):c.2525A>G (p.Gln842Arg)
|
rs771174392
|
|
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_022552.5(DNMT3A):c.2666T>G (p.Leu889Arg)
|
|
|
NM_022552.5(DNMT3A):c.656A>G (p.Lys219Arg)
|
rs950156492
|
|
NM_022552.5(DNMT3A):c.920C>T (p.Pro307Leu)
|
rs759380437
|
|
NM_022845.3(CBFB):c.295_296dup (p.Pro100fs)
|
rs1961069899
|
|
NM_022904.3(RASAL3):c.-5C>G
|
rs76267899
|
|
NM_024426.6(WT1):c.1157_1158insTGTACGGT (p.Ala387fs)
|
rs1057519745
|
|
NM_024426.6(WT1):c.1388G>C (p.Arg463Pro)
|
rs1037084691
|
|
NM_024529.5(CDC73):c.*1056A>C
|
rs548106852
|
|
NM_024529.5(CDC73):c.*1075A>G
|
rs886045719
|
|
NM_024529.5(CDC73):c.*1144del
|
rs538761780
|
|
NM_024529.5(CDC73):c.*1144dup
|
rs538761780
|
|
NM_024529.5(CDC73):c.*1296C>G
|
rs1269411417
|
|
NM_024529.5(CDC73):c.*1303A>G
|
rs886045723
|
|
NM_024529.5(CDC73):c.*1442C>T
|
rs1678053550
|
|
NM_024529.5(CDC73):c.*1821G>T
|
rs1678060916
|
|
NM_024529.5(CDC73):c.*1858C>G
|
rs886045724
|
|
NM_024529.5(CDC73):c.*1956T>C
|
rs886045725
|
|
NM_024529.5(CDC73):c.*2043A>T
|
rs886045727
|
|
NM_024529.5(CDC73):c.*2131A>T
|
rs886045728
|
|
NM_024529.5(CDC73):c.*244T>A
|
rs1678034707
|
|
NM_024529.5(CDC73):c.*2639C>G
|
rs1361287206
|
|
NM_024529.5(CDC73):c.*3086C>T
|
rs886045733
|
|
NM_024529.5(CDC73):c.*3257A>G
|
rs886045734
|
|
NM_024529.5(CDC73):c.*3409_*3410del
|
rs886045735
|
|
NM_024529.5(CDC73):c.*3542A>G
|
rs886045736
|
|
NM_024529.5(CDC73):c.*3641G>A
|
rs565579791
|
|
NM_024529.5(CDC73):c.*3695C>G
|
rs1678098304
|
|
NM_024529.5(CDC73):c.*3786T>A
|
rs74130943
|
|
NM_024529.5(CDC73):c.*3786T>C
|
rs74130943
|
|
NM_024529.5(CDC73):c.*3808TTG[1]
|
rs143131672
|
|
NM_024529.5(CDC73):c.*3887G>T
|
rs1678101144
|
|
NM_024529.5(CDC73):c.*937G>A
|
rs886045715
|
|
NM_024529.5(CDC73):c.*94A>G
|
rs547969893
|
|
NM_024529.5(CDC73):c.*956T>C
|
rs886045716
|
|
NM_024529.5(CDC73):c.-4dup
|
rs545666726
|
|
NM_024529.5(CDC73):c.1003C>T (p.Pro335Ser)
|
rs779180488
|
|
NM_024529.5(CDC73):c.1009G>A (p.Ala337Thr)
|
|
|
NM_024529.5(CDC73):c.1018G>A (p.Val340Ile)
|
rs1060500021
|
|
NM_024529.5(CDC73):c.1103C>T (p.Thr368Ile)
|
rs2102038553
|
|
NM_024529.5(CDC73):c.1192C>A (p.Gln398Lys)
|
|
|
NM_024529.5(CDC73):c.1195C>T (p.Arg399Ter)
|
rs1677688362
|
|
NM_024529.5(CDC73):c.1200A>T (p.Glu400Asp)
|
|
|
NM_024529.5(CDC73):c.1249A>G (p.Thr417Ala)
|
rs1572215351
|
|
NM_024529.5(CDC73):c.131+1G>A
|
rs587776558
|
|
NM_024529.5(CDC73):c.131+1del
|
|
|
NM_024529.5(CDC73):c.132-17T>G
|
rs2103113863
|
|
NM_024529.5(CDC73):c.132-2A>G
|
rs1057519419
|
|
NM_024529.5(CDC73):c.1324G>A (p.Val442Ile)
|
rs1677756402
|
|
NM_024529.5(CDC73):c.1384C>T (p.Pro462Ser)
|
rs1199579887
|
|
NM_024529.5(CDC73):c.1418-17C>G
|
rs11583414
|
|
NM_024529.5(CDC73):c.1486G>A (p.Val496Ile)
|
|
|
NM_024529.5(CDC73):c.1537C>T (p.Arg513Trp)
|
rs1060500011
|
|
NM_024529.5(CDC73):c.156A>G (p.Arg52=)
|
rs886045712
|
|
NM_024529.5(CDC73):c.191T>C (p.Leu64Pro)
|
rs121434264
|
|
NM_024529.5(CDC73):c.192TAA[1] (p.Asn66del)
|
|
|
NM_024529.5(CDC73):c.237+28T>C
|
rs4466634
|
|
NM_024529.5(CDC73):c.238-1G>A
|
rs587776559
|
|
NM_024529.5(CDC73):c.25C>T (p.Arg9Ter)
|
rs121434262
|
|
NM_024529.5(CDC73):c.271C>T (p.Arg91Ter)
|
rs1558280170
|
|
NM_024529.5(CDC73):c.298G>A (p.Gly100Ser)
|
|
|
NM_024529.5(CDC73):c.314C>T (p.Ser105Leu)
|
rs1675773790
|
|
NM_024529.5(CDC73):c.320G>A (p.Ser107Asn)
|
rs1572150421
|
|
NM_024529.5(CDC73):c.380C>T (p.Ala127Val)
|
rs1558282443
|
|
NM_024529.5(CDC73):c.3G>A (p.Met1Ile)
|
rs28942098
|
|
NM_024529.5(CDC73):c.424-12G>A
|
|
|
NM_024529.5(CDC73):c.47A>G (p.Lys16Arg)
|
|
|
NM_024529.5(CDC73):c.584del (p.Ser195fs)
|
|
|
NM_024529.5(CDC73):c.626_629del (p.Lys209fs)
|
rs2103126261
|
|
NM_024529.5(CDC73):c.659T>C (p.Val220Ala)
|
rs886045713
|
|
NM_024529.5(CDC73):c.664C>T (p.Arg222Ter)
|
rs770439843
|
|
NM_024529.5(CDC73):c.679_680insAG (p.Arg227fs)
|
rs80356649
|
|
NM_024529.5(CDC73):c.687_688del (p.Arg229fs)
|
rs760591174
|
|
NM_024529.5(CDC73):c.687_688dup (p.Val230fs)
|
rs760591174
|
|
NM_024529.5(CDC73):c.69C>G (p.Asp23Glu)
|
rs1675465120
|
|
NM_024529.5(CDC73):c.709A>G (p.Ile237Val)
|
rs1675915480
|
|
NM_024529.5(CDC73):c.728A>T (p.Lys243Met)
|
rs1675915771
|
|
NM_024529.5(CDC73):c.731A>G (p.Asn244Ser)
|
rs368199363
|
|
NM_024529.5(CDC73):c.748T>C (p.Phe250Leu)
|
|
|
NM_024529.5(CDC73):c.766_767del (p.Val256fs)
|
rs80356650
|
|
NM_024529.5(CDC73):c.802C>T (p.Arg268Ter)
|
rs2103130589
|
|
NM_024529.5(CDC73):c.811C>G (p.Pro271Ala)
|
rs765029460
|
|
NM_024529.5(CDC73):c.829-5dup
|
rs755393679
|
|
NM_024529.5(CDC73):c.834C>T (p.Pro278=)
|
rs886045714
|
|
NM_024529.5(CDC73):c.8A>G (p.Asp3Gly)
|
rs1675462949
|
|
NM_024529.5(CDC73):c.908-6del
|
rs563805986
|
|
NM_024535.5(CORO7):c.2772+50C>T
|
rs1555468179
|
|
NM_024675.4(PALB2):c.1600T>G (p.Ser534Ala)
|
rs1064793824
|
|
NM_024675.4(PALB2):c.398G>C (p.Ser133Thr)
|
rs864622411
|
|
NM_032638.5(GATA2):c.1061C>T (p.Thr354Met)
|
rs387906631
|
|
NM_032638.5(GATA2):c.1148A>G (p.Asn383Ser)
|
rs2068625752
|
|
NM_032638.5(GATA2):c.1192C>T (p.Arg398Trp)
|
rs387906629
|
|
NM_032638.5(GATA2):c.1202C>G (p.Ser401Cys)
|
|
|
NM_032638.5(GATA2):c.1215G>T (p.Lys405Asn)
|
rs779797858
|
|
NM_032638.5(GATA2):c.1267G>A (p.Glu423Lys)
|
rs758517602
|
|
NM_032638.5(GATA2):c.1322_1325dup (p.His442fs)
|
rs2107667819
|
|
NM_032638.5(GATA2):c.1333C>G (p.Pro445Ala)
|
|
|
NM_032638.5(GATA2):c.1423A>T (p.Met475Leu)
|
rs1429596189
|
|
NM_032638.5(GATA2):c.154C>G (p.Leu52Val)
|
|
|
NM_032638.5(GATA2):c.238A>G (p.Thr80Ala)
|
|
|
NM_032638.5(GATA2):c.259C>T (p.Pro87Ser)
|
|
|
NM_032638.5(GATA2):c.283T>G (p.Leu95Val)
|
|
|
NM_032638.5(GATA2):c.308C>T (p.Ala103Val)
|
rs2068698528
|
|
NM_032638.5(GATA2):c.424C>T (p.Pro142Ser)
|
rs2068696200
|
|
NM_032638.5(GATA2):c.479C>G (p.Thr160Ser)
|
rs751621459
|
|
NM_032638.5(GATA2):c.494A>T (p.His165Leu)
|
rs1559987389
|
|
NM_032638.5(GATA2):c.553C>T (p.Pro185Ser)
|
rs1373180685
|
|
NM_032638.5(GATA2):c.592G>T (p.Ala198Ser)
|
rs1576748685
|
|
NM_032638.5(GATA2):c.596G>C (p.Gly199Ala)
|
|
|
NM_032638.5(GATA2):c.598G>C (p.Gly200Arg)
|
|
|
NM_032638.5(GATA2):c.599G>C (p.Gly200Ala)
|
rs373477245
|
|
NM_032638.5(GATA2):c.64C>T (p.Pro22Ser)
|
rs1172590651
|
|
NM_032638.5(GATA2):c.706A>G (p.Met236Val)
|
rs746737860
|
|
NM_032638.5(GATA2):c.748C>T (p.Pro250Ser)
|
rs78245253
|
|
NM_032638.5(GATA2):c.7G>C (p.Val3Leu)
|
|
|
NM_032638.5(GATA2):c.843G>T (p.Lys281Asn)
|
rs2068685897
|
|
NM_032638.5(GATA2):c.85C>G (p.Leu29Val)
|
|
|
NM_033360.4(KRAS):c.*101_*106del
|
rs1339924833
|
|
NM_033360.4(KRAS):c.27_29dup (p.Gly10dup)
|
rs606231202
|
|
NM_033360.4(KRAS):c.355G>A (p.Asp119Asn)
|
rs730880471
|
|
NM_054021.2(GPR101):c.1098C>A (p.Asp366Glu)
|
rs1556379508
|
|
NM_054021.2(GPR101):c.924G>C (p.Glu308Asp)
|
rs73637412
|
|
NM_058172.5(ANTXR2):c.-714A>T
|
rs886059665
|
|
NM_058172.6(ANTXR2):c.*1085T>C
|
rs1726908171
|
|
NM_058172.6(ANTXR2):c.*1113C>T
|
rs554716997
|
|
NM_058172.6(ANTXR2):c.*1295T>C
|
rs956054737
|
|
NM_058172.6(ANTXR2):c.*1795G>A
|
rs1726872226
|
|
NM_058172.6(ANTXR2):c.*2187A>C
|
rs1044519123
|
|
NM_058172.6(ANTXR2):c.*2256T>C
|
rs1726855465
|
|
NM_058172.6(ANTXR2):c.*2666A>C
|
rs1726839418
|
|
NM_058172.6(ANTXR2):c.*2959C>G
|
rs1726830497
|
|
NM_058172.6(ANTXR2):c.*3212T>C
|
rs1726821073
|
|
NM_058172.6(ANTXR2):c.*336C>T
|
rs4690108
|
|
NM_058172.6(ANTXR2):c.*3371C>A
|
rs768265599
|
|
NM_058172.6(ANTXR2):c.*3468A>G
|
rs561942463
|
|
NM_058172.6(ANTXR2):c.*3606A>G
|
rs1726804365
|
|
NM_058172.6(ANTXR2):c.*3888T>G
|
rs183636388
|
|
NM_058172.6(ANTXR2):c.*3953G>A
|
rs369116782
|
|
NM_058172.6(ANTXR2):c.*4223T>C
|
rs181339722
|
|
NM_058172.6(ANTXR2):c.*4712C>T
|
rs1726753644
|
|
NM_058172.6(ANTXR2):c.*4856C>T
|
rs149098653
|
|
NM_058172.6(ANTXR2):c.*5266A>C
|
rs1726732435
|
|
NM_058172.6(ANTXR2):c.*5310T>G
|
rs1726729431
|
|
NM_058172.6(ANTXR2):c.*5358A>G
|
rs1726727827
|
|
NM_058172.6(ANTXR2):c.*5413A>G
|
rs1726724637
|
|
NM_058172.6(ANTXR2):c.*728G>A
|
rs778332341
|
|
NM_058172.6(ANTXR2):c.-130G>A
|
rs886059659
|
|
NM_058172.6(ANTXR2):c.-169T>C
|
rs1264418120
|
|
NM_058172.6(ANTXR2):c.-261G>T
|
rs1578203683
|
|
NM_058172.6(ANTXR2):c.-262A>G
|
rs886059660
|
|
NM_058172.6(ANTXR2):c.-266G>A
|
rs1010470801
|
|
NM_058172.6(ANTXR2):c.-366G>C
|
rs886059661
|
|
NM_058172.6(ANTXR2):c.-410dup
|
rs886059662
|
|
NM_058172.6(ANTXR2):c.-455C>T
|
rs886059664
|
|
NM_058172.6(ANTXR2):c.-634C>T
|
rs897876151
|
|
NM_058172.6(ANTXR2):c.1042-114G>A
|
rs4444771
|
|
NM_058172.6(ANTXR2):c.1068C>A (p.Pro356=)
|
rs72653288
|
|
NM_058172.6(ANTXR2):c.1068C>G (p.Pro356=)
|
rs72653288
|
|
NM_058172.6(ANTXR2):c.1069G>C (p.Ala357Pro)
|
rs12647691
|
|
NM_058172.6(ANTXR2):c.1069del (p.Ala357fs)
|
rs556120147
|
|
NM_058172.6(ANTXR2):c.1070C>G (p.Ala357Gly)
|
rs534683576
|
|
NM_058172.6(ANTXR2):c.1073del (p.Pro358fs)
|
rs312262690
|
|
NM_058172.6(ANTXR2):c.1073dup (p.Ala359fs)
|
rs312262690
|
|
NM_058172.6(ANTXR2):c.1087-1G>A
|
|
|
NM_058172.6(ANTXR2):c.1139del (p.Tyr380fs)
|
|
|
NM_058172.6(ANTXR2):c.1142A>G (p.Tyr381Cys)
|
rs137852901
|
|
NM_058172.6(ANTXR2):c.1148G>A (p.Gly383Asp)
|
rs886039907
|
|
NM_058172.6(ANTXR2):c.1179G>A (p.Glu393=)
|
rs546102223
|
|
NM_058172.6(ANTXR2):c.1190dup (p.Gly397_Asp398insTer)
|
rs1578125066
|
|
NM_058172.6(ANTXR2):c.1247T>C (p.Val416Ala)
|
rs995416393
|
|
NM_058172.6(ANTXR2):c.1287_1288del (p.Arg429fs)
|
|
|
NM_058172.6(ANTXR2):c.1294C>T (p.Arg432Ter)
|
|
|
NM_058172.6(ANTXR2):c.1305del (p.Thr436fs)
|
rs797045028
|
|
NM_058172.6(ANTXR2):c.134T>C (p.Leu45Pro)
|
rs886041401
|
|
NM_058172.6(ANTXR2):c.211del (p.Glu71fs)
|
|
|
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.314G>A (p.Gly105Asp)
|
rs137852902
|
|
NM_058172.6(ANTXR2):c.487-2A>G
|
|
|
NM_058172.6(ANTXR2):c.496_497del (p.Ser166fs)
|
|
|
NM_058172.6(ANTXR2):c.566T>C (p.Ile189Thr)
|
rs137852905
|
|
NM_058172.6(ANTXR2):c.637-10del
|
rs373672335
|
|
NM_058172.6(ANTXR2):c.637-10dup
|
rs373672335
|
|
NM_058172.6(ANTXR2):c.658G>T (p.Glu220Ter)
|
rs137852904
|
|
NM_058172.6(ANTXR2):c.712G>A (p.Val238Ile)
|
rs768405615
|
|
NM_058172.6(ANTXR2):c.720del (p.Ser240fs)
|
rs1732803804
|
|
NM_058172.6(ANTXR2):c.770dup (p.Tyr257Ter)
|
rs1578172709
|
|
NM_058172.6(ANTXR2):c.796+3A>C
|
rs1732794597
|
|
NM_058172.6(ANTXR2):c.867_945del (p.Glu289fs)
|
rs1560998734
|
|
NM_058172.6(ANTXR2):c.903dup (p.Ser302fs)
|
rs1553933367
|
|
NM_058172.6(ANTXR2):c.986T>G (p.Leu329Arg)
|
rs137852903
|
|
NM_080425.4(GNAS):c.1130G>T (p.Gly377Val)
|
rs778121381
|
|
NM_080425.4(GNAS):c.1276G>C (p.Ala426Pro)
|
rs767104257
|
|
NM_080425.4(GNAS):c.1428C>G (p.Ala476=)
|
rs559714658
|
|
NM_080425.4(GNAS):c.628G>C (p.Ala210Pro)
|
rs61749696
|
|
NM_153487.4(MDGA1):c.2674T>G (p.Phe892Val)
|
rs864309493
|
|
NM_181552.4(CUX1):c.3820A>G (p.Ile1274Val)
|
|
|
NM_198253.3(TERT):c.1070C>G (p.Ala357Gly)
|
rs1751166833
|
|
NM_198253.3(TERT):c.1110C>G (p.Pro370=)
|
rs1579597009
|
|
NM_198253.3(TERT):c.124G>C (p.Gly42Arg)
|
rs1751293669
|
|
NM_198253.3(TERT):c.1304T>A (p.Val435Glu)
|
rs1561213530
|
|
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del)
|
rs377639087
|
|
NM_198253.3(TERT):c.1620C>G (p.Ile540Met)
|
rs797046041
|
|
NM_198253.3(TERT):c.1662C>T (p.Val554=)
|
rs200539091
|
|
NM_198253.3(TERT):c.1891C>T (p.Arg631Trp)
|
rs1194223999
|
|
NM_198253.3(TERT):c.2007G>A (p.Arg669=)
|
rs1060504788
|
|
NM_198253.3(TERT):c.2221G>A (p.Val741Met)
|
rs150819225
|
|
NM_198253.3(TERT):c.336dup (p.Glu113fs)
|
rs1060502990
|
|
NM_198253.3(TERT):c.764C>A (p.Ser255Tyr)
|
rs1751207450
|
|
NM_198253.3(TERT):c.847A>C (p.Thr283Pro)
|
rs1295657479
|
|
NM_198253.3(TERT):c.902G>A (p.Arg301His)
|
rs1268051204
|
|
NM_198291.3(SRC):c.1579G>A (p.Glu527Lys)
|
rs879255268
|
|
NM_198291.3(SRC):c.1585C>G (p.Gln529Glu)
|
|
|
NM_198291.3(SRC):c.919C>T (p.Pro307Ser)
|
|
|
NM_207122.1(EXT2):c.-242G>T
|
rs1953882206
|
|
NM_207122.1(EXT2):c.861_1173+5287del
|
|
|
NM_207122.2(EXT2):c.*368C>T
|
rs886048279
|
|
NM_207122.2(EXT2):c.*672G>C
|
rs1956079951
|
|
NM_207122.2(EXT2):c.*795C>A
|
rs76505631
|
|
NM_207122.2(EXT2):c.*802A>G
|
rs531942530
|
|
NM_207122.2(EXT2):c.*882G>T
|
rs1956082516
|
|
NM_207122.2(EXT2):c.-197C>G
|
rs78395259
|
|
NM_207122.2(EXT2):c.-61C>G
|
rs12800404
|
|
NM_207122.2(EXT2):c.1002_1004dup (p.Leu335_Gln336insLeu)
|
|
|
NM_207122.2(EXT2):c.1003_1004insA (p.Leu335fs)
|
rs2135020617
|
|
NM_207122.2(EXT2):c.1006C>T (p.Gln336Ter)
|
rs1954414269
|
|
NM_207122.2(EXT2):c.1008A>G (p.Gln336=)
|
|
|
NM_207122.2(EXT2):c.1013del (p.Gly338fs)
|
rs2135020654
|
|
NM_207122.2(EXT2):c.1016G>A (p.Cys339Tyr)
|
rs751598619
|
|
NM_207122.2(EXT2):c.1016G>C (p.Cys339Ser)
|
|
|
NM_207122.2(EXT2):c.1018G>A (p.Val340Ile)
|
|
|
NM_207122.2(EXT2):c.1022C>G (p.Pro341Arg)
|
rs141035971
|
|
NM_207122.2(EXT2):c.1024del (p.Val342fs)
|
rs1954415156
|
|
NM_207122.2(EXT2):c.1026T>C (p.Val342=)
|
|
|
NM_207122.2(EXT2):c.1032T>G (p.Ile344Met)
|
rs1954415349
|
|
NM_207122.2(EXT2):c.1032del (p.Ile344fs)
|
rs1590570953
|
|
NM_207122.2(EXT2):c.1040C>G (p.Ser347Cys)
|
|
|
NM_207122.2(EXT2):c.1042T>G (p.Tyr348Asp)
|
|
|
NM_207122.2(EXT2):c.1044T>A (p.Tyr348Ter)
|
|
|
NM_207122.2(EXT2):c.1044T>C (p.Tyr348=)
|
rs2135020895
|
|
NM_207122.2(EXT2):c.1050G>T (p.Leu350Phe)
|
rs747302075
|
|
NM_207122.2(EXT2):c.1052C>T (p.Pro351Leu)
|
rs1954415964
|
|
NM_207122.2(EXT2):c.1056C>T (p.Phe352=)
|
|
|
NM_207122.2(EXT2):c.1066C>T (p.Leu356Phe)
|
|
|
NM_207122.2(EXT2):c.1072T>C (p.Trp358Arg)
|
|
|
NM_207122.2(EXT2):c.1072T>G (p.Trp358Gly)
|
rs2135020999
|
|
NM_207122.2(EXT2):c.1074G>A (p.Trp358Ter)
|
rs1450980907
|
|
NM_207122.2(EXT2):c.1079+13T>C
|
|
|
NM_207122.2(EXT2):c.1079+17A>G
|
|
|
NM_207122.2(EXT2):c.1079+1G>A
|
rs1369420640
|
|
NM_207122.2(EXT2):c.1079+1G>C
|
rs1369420640
|
|
NM_207122.2(EXT2):c.1079+1G>T
|
rs1369420640
|
|
NM_207122.2(EXT2):c.1080-14G>A
|
|
|
NM_207122.2(EXT2):c.1080-1G>A
|
rs2135029007
|
|
NM_207122.2(EXT2):c.1080-1G>T
|
rs2135029007
|
|
NM_207122.2(EXT2):c.1080-2A>G
|
rs558968332
|
|
NM_207122.2(EXT2):c.1080-2del
|
rs2135029005
|
|
NM_207122.2(EXT2):c.1083A>G (p.Ala361=)
|
|
|
NM_207122.2(EXT2):c.1085C>T (p.Ser362Phe)
|
|
|
NM_207122.2(EXT2):c.1102G>T (p.Glu368Ter)
|
|
|
NM_207122.2(EXT2):c.1104_1108del (p.Glu368fs)
|
|
|
NM_207122.2(EXT2):c.1117G>A (p.Val373Met)
|
rs750547674
|
|
NM_207122.2(EXT2):c.1124_1125del (p.Ser375fs)
|
rs1954470017
|
|
NM_207122.2(EXT2):c.1128T>C (p.Ile376=)
|
|
|
NM_207122.2(EXT2):c.1132C>T (p.Gln378Ter)
|
rs1555006433
|
|
NM_207122.2(EXT2):c.1144C>T (p.Gln382Ter)
|
rs1954470670
|
|
NM_207122.2(EXT2):c.1145A>G (p.Gln382Arg)
|
|
|
NM_207122.2(EXT2):c.1149A>G (p.Arg383=)
|
|
|
NM_207122.2(EXT2):c.1150C>T (p.Gln384Ter)
|
rs753083913
|
|
NM_207122.2(EXT2):c.1151A>G (p.Gln384Arg)
|
rs1590575253
|
|
NM_207122.2(EXT2):c.1154T>C (p.Ile385Thr)
|
|
|
NM_207122.2(EXT2):c.1165C>G (p.Gln389Glu)
|
rs1203844985
|
|
NM_207122.2(EXT2):c.1167G>A (p.Gln389=)
|
rs2135029434
|
|
NM_207122.2(EXT2):c.1169_1170del (p.Arg390fs)
|
rs1954471038
|
|
NM_207122.2(EXT2):c.1171C>T (p.Gln391Ter)
|
rs570580540
|
|
NM_207122.2(EXT2):c.1172_1173dup (p.Ala392fs)
|
|
|
NM_207122.2(EXT2):c.1173+17T>A
|
|
|
NM_207122.2(EXT2):c.1173+2T>A
|
rs1565205890
|
|
NM_207122.2(EXT2):c.1173+8G>A
|
|
|
NM_207122.2(EXT2):c.1173+9C>T
|
|
|
NM_207122.2(EXT2):c.1174-14T>A
|
|
|
NM_207122.2(EXT2):c.1174-19A>G
|
|
|
NM_207122.2(EXT2):c.1174-2A>G
|
|
|
NM_207122.2(EXT2):c.1175C>A (p.Ala392Asp)
|
|
|
NM_207122.2(EXT2):c.1179del (p.Trp394fs)
|
rs1955074882
|
|
NM_207122.2(EXT2):c.117C>T (p.Ala39=)
|
rs2134965644
|
|
NM_207122.2(EXT2):c.1181G>A (p.Trp394Ter)
|
rs1191238988
|
|
NM_207122.2(EXT2):c.1186_1192del (p.Trp396fs)
|
|
|
NM_207122.2(EXT2):c.1187G>A (p.Trp396Ter)
|
rs750542485
|
|
NM_207122.2(EXT2):c.1187G>C (p.Trp396Ser)
|
|
|
NM_207122.2(EXT2):c.1189dup (p.Glu397fs)
|
rs1590618771
|
|
NM_207122.2(EXT2):c.1192G>A (p.Ala398Thr)
|
rs2135127641
|
|
NM_207122.2(EXT2):c.1197C>G (p.Tyr399Ter)
|
|
|
NM_207122.2(EXT2):c.1201C>T (p.Gln401Ter)
|
|
|
NM_207122.2(EXT2):c.1201del (p.Gln401fs)
|
rs2135127698
|
|
NM_207122.2(EXT2):c.1205C>A (p.Ser402Ter)
|
rs1955075568
|
|
NM_207122.2(EXT2):c.1211A>T (p.Lys404Ile)
|
|
|
NM_207122.2(EXT2):c.1221C>G (p.Ala407=)
|
|
|
NM_207122.2(EXT2):c.1221C>T (p.Ala407=)
|
rs1315721028
|
|
NM_207122.2(EXT2):c.1223T>A (p.Leu408Gln)
|
|
|
NM_207122.2(EXT2):c.1223T>C (p.Leu408Pro)
|
|
|
NM_207122.2(EXT2):c.1226C>G (p.Ala409Gly)
|
rs1279920600
|
|
NM_207122.2(EXT2):c.1232_1234del (p.Leu411del)
|
|
|
NM_207122.2(EXT2):c.1233G>A (p.Leu411=)
|
|
|
NM_207122.2(EXT2):c.1234C>T (p.Gln412Ter)
|
rs1448103584
|
|
NM_207122.2(EXT2):c.1244A>G (p.Asn415Ser)
|
|
|
NM_207122.2(EXT2):c.1245del (p.Asn415fs)
|
|
|
NM_207122.2(EXT2):c.1248C>G (p.Asp416Glu)
|
|
|
NM_207122.2(EXT2):c.1250G>A (p.Arg417Gln)
|
rs753542290
|
|
NM_207122.2(EXT2):c.1257T>A (p.Tyr419Ter)
|
rs1955076595
|
|
NM_207122.2(EXT2):c.1262_1263dup (p.Ala422fs)
|
rs1590618958
|
|
NM_207122.2(EXT2):c.1285T>G (p.Trp429Gly)
|
|
|
NM_207122.2(EXT2):c.1286G>A (p.Trp429Ter)
|
rs2135128105
|
|
NM_207122.2(EXT2):c.1287G>A (p.Trp429Ter)
|
rs1403873034
|
|
NM_207122.2(EXT2):c.1291G>A (p.Asp431Asn)
|
rs886048276
|
|
NM_207122.2(EXT2):c.129_130delinsGT (p.Phe43_Gln44delinsLeuTer)
|
rs1954079044
|
|
NM_207122.2(EXT2):c.12G>A (p.Ser4=)
|
|
|
NM_207122.2(EXT2):c.1305+14A>G
|
|
|
NM_207122.2(EXT2):c.1305+1G>A
|
rs864309637
|
|
NM_207122.2(EXT2):c.1306-13T>C
|
rs749657208
|
|
NM_207122.2(EXT2):c.1306-14C>A
|
|
|
NM_207122.2(EXT2):c.1306-14C>T
|
|
|
NM_207122.2(EXT2):c.1306-8T>C
|
|
|
NM_207122.2(EXT2):c.1308G>A (p.Lys436=)
|
|
|
NM_207122.2(EXT2):c.1308G>T (p.Lys436Asn)
|
|
|
NM_207122.2(EXT2):c.1312G>T (p.Gly438Cys)
|
rs775111831
|
|
NM_207122.2(EXT2):c.1328C>T (p.Pro443Leu)
|
|
|
NM_207122.2(EXT2):c.1330C>T (p.Leu444Phe)
|
|
|
NM_207122.2(EXT2):c.1338C>T (p.Leu446=)
|
rs1955474586
|
|
NM_207122.2(EXT2):c.1340C>T (p.Pro447Leu)
|
|
|
NM_207122.2(EXT2):c.1342C>T (p.Leu448=)
|
|
|
NM_207122.2(EXT2):c.1344G>A (p.Leu448=)
|
|
|
NM_207122.2(EXT2):c.1350A>G (p.Pro450=)
|
|
|
NM_207122.2(EXT2):c.1353A>G (p.Pro451=)
|
|
|
NM_207122.2(EXT2):c.1363G>A (p.Gly455Arg)
|
|
|
NM_207122.2(EXT2):c.1370C>A (p.Thr457Asn)
|
|
|
NM_207122.2(EXT2):c.1371C>T (p.Thr457=)
|
|
|
NM_207122.2(EXT2):c.1376T>C (p.Ile459Thr)
|
|
|
NM_207122.2(EXT2):c.1392C>T (p.Asp464=)
|
|
|
NM_207122.2(EXT2):c.1394G>A (p.Arg465Gln)
|
|
|
NM_207122.2(EXT2):c.140C>T (p.Pro47Leu)
|
|
|
NM_207122.2(EXT2):c.1411C>T (p.Arg471Trp)
|
|
|
NM_207122.2(EXT2):c.1436T>A (p.Val479Glu)
|
|
|
NM_207122.2(EXT2):c.1438C>T (p.Pro480Ser)
|
|
|
NM_207122.2(EXT2):c.143A>T (p.His48Leu)
|
rs1590547374
|
|
NM_207122.2(EXT2):c.1440C>T (p.Pro480=)
|
rs2135185399
|
|
NM_207122.2(EXT2):c.1448C>T (p.Ser483Phe)
|
|
|
NM_207122.2(EXT2):c.1449C>T (p.Ser483=)
|
|
|
NM_207122.2(EXT2):c.1454T>C (p.Leu485Pro)
|
|
|
NM_207122.2(EXT2):c.1458T>A (p.Leu486=)
|
rs1343630556
|
|
NM_207122.2(EXT2):c.1462G>A (p.Val488Ile)
|
|
|
NM_207122.2(EXT2):c.1462G>T (p.Val488Phe)
|
|
|
NM_207122.2(EXT2):c.1465T>C (p.Trp489Arg)
|
rs2135185580
|
|
NM_207122.2(EXT2):c.1466G>C (p.Trp489Ser)
|
|
|
NM_207122.2(EXT2):c.147T>G (p.Ser49=)
|
|
|
NM_207122.2(EXT2):c.1484del (p.Asn495fs)
|
|
|
NM_207122.2(EXT2):c.1489_1495+12del
|
|
|
NM_207122.2(EXT2):c.148A>G (p.Ile50Val)
|
|
|
NM_207122.2(EXT2):c.1495+12T>C
|
|
|
NM_207122.2(EXT2):c.1495+7dup
|
rs1376958816
|
|
NM_207122.2(EXT2):c.1495G>A (p.Asp499Asn)
|
rs1314735230
|
|
NM_207122.2(EXT2):c.1496-17C>A
|
rs1370105753
|
|
NM_207122.2(EXT2):c.1496-1G>C
|
|
|
NM_207122.2(EXT2):c.1499C>G (p.Ser500Cys)
|
rs1955587849
|
|
NM_207122.2(EXT2):c.1518G>A (p.Arg506=)
|
|
|
NM_207122.2(EXT2):c.1522C>T (p.Pro508Ser)
|
|
|
NM_207122.2(EXT2):c.1524A>G (p.Pro508=)
|
|
|
NM_207122.2(EXT2):c.1524A>T (p.Pro508=)
|
|
|
NM_207122.2(EXT2):c.1525T>C (p.Leu509=)
|
|
|
NM_207122.2(EXT2):c.1534del (p.Val511_Val512insTer)
|
|
|
NM_207122.2(EXT2):c.1565G>A (p.Arg522His)
|
rs1271452312
|
|
NM_207122.2(EXT2):c.1574C>G (p.Pro525Arg)
|
|
|
NM_207122.2(EXT2):c.1575T>A (p.Pro525=)
|
rs372914384
|
|
NM_207122.2(EXT2):c.1575T>C (p.Pro525=)
|
rs372914384
|
|
NM_207122.2(EXT2):c.1577dup (p.Tyr526Ter)
|
rs2135204843
|
|
NM_207122.2(EXT2):c.1582G>A (p.Glu528Lys)
|
|
|
NM_207122.2(EXT2):c.1601T>A (p.Val534Asp)
|
rs1955590072
|
|
NM_207122.2(EXT2):c.1626T>A (p.Ile542=)
|
|
|
NM_207122.2(EXT2):c.1627dup (p.Met543fs)
|
rs1590647371
|
|
NM_207122.2(EXT2):c.1662+17_1662+18del
|
|
|
NM_207122.2(EXT2):c.1662+18A>G
|
|
|
NM_207122.2(EXT2):c.1662+1G>C
|
|
|
NM_207122.2(EXT2):c.1662+20T>C
|
|
|
NM_207122.2(EXT2):c.1662+4A>C
|
|
|
NM_207122.2(EXT2):c.1662G>C (p.Glu554Asp)
|
|
|
NM_207122.2(EXT2):c.1663-14G>A
|
|
|
NM_207122.2(EXT2):c.1663-1G>A
|
|
|
NM_207122.2(EXT2):c.1668G>A (p.Trp556Ter)
|
|
|
NM_207122.2(EXT2):c.1669C>A (p.Arg557=)
|
rs768532662
|
|
NM_207122.2(EXT2):c.1669C>T (p.Arg557Trp)
|
rs768532662
|
|
NM_207122.2(EXT2):c.1683C>T (p.Asp561=)
|
rs1955909250
|
|
NM_207122.2(EXT2):c.1684C>G (p.Arg562Gly)
|
|
|
NM_207122.2(EXT2):c.1684C>T (p.Arg562Trp)
|
|
|
NM_207122.2(EXT2):c.168G>A (p.Trp56Ter)
|
|
|
NM_207122.2(EXT2):c.1698C>A (p.Tyr566Ter)
|
|
|
NM_207122.2(EXT2):c.1700C>T (p.Pro567Leu)
|
|
|
NM_207122.2(EXT2):c.1701G>A (p.Pro567=)
|
|
|
NM_207122.2(EXT2):c.1708C>T (p.Leu570=)
|
|
|
NM_207122.2(EXT2):c.1712A>C (p.His571Pro)
|
|
|
NM_207122.2(EXT2):c.1719G>C (p.Trp573Cys)
|
|
|
NM_207122.2(EXT2):c.1724A>G (p.His575Arg)
|
|
|
NM_207122.2(EXT2):c.1731dup (p.Asn578fs)
|
|
|
NM_207122.2(EXT2):c.1733del (p.Asn578fs)
|
|
|
NM_207122.2(EXT2):c.1740G>A (p.Trp580Ter)
|
rs1564986609
|
|
NM_207122.2(EXT2):c.1740G>C (p.Trp580Cys)
|
rs1564986609
|
|
NM_207122.2(EXT2):c.1743G>A (p.Lys581=)
|
rs772721212
|
|
NM_207122.2(EXT2):c.1752T>G (p.Ser584=)
|
|
|
NM_207122.2(EXT2):c.1764T>C (p.Asn588=)
|
rs2135259732
|
|
NM_207122.2(EXT2):c.1765G>A (p.Glu589Lys)
|
|
|
NM_207122.2(EXT2):c.1771T>C (p.Ser591Pro)
|
|
|
NM_207122.2(EXT2):c.1773C>T (p.Ser591=)
|
|
|
NM_207122.2(EXT2):c.1776G>A (p.Met592Ile)
|
|
|
NM_207122.2(EXT2):c.1777G>T (p.Val593Leu)
|
|
|
NM_207122.2(EXT2):c.1778del (p.Val593fs)
|
|
|
NM_207122.2(EXT2):c.1782C>T (p.Leu594=)
|
|
|
NM_207122.2(EXT2):c.1798T>C (p.Tyr600His)
|
|
|
NM_207122.2(EXT2):c.1799A>G (p.Tyr600Cys)
|
|
|
NM_207122.2(EXT2):c.1802A>C (p.His601Pro)
|
|
|
NM_207122.2(EXT2):c.1802A>G (p.His601Arg)
|
rs1590666587
|
|
NM_207122.2(EXT2):c.1802_1803delinsCT (p.His601Pro)
|
rs2135259942
|
|
NM_207122.2(EXT2):c.1803C>T (p.His601=)
|
rs1590666591
|
|
NM_207122.2(EXT2):c.1806+16C>A
|
|
|
NM_207122.2(EXT2):c.1806+3A>C
|
|
|
NM_207122.2(EXT2):c.1806+5G>C
|
|
|
NM_207122.2(EXT2):c.1806+9G>T
|
rs2135260004
|
|
NM_207122.2(EXT2):c.1806+9del
|
rs372901342
|
|
NM_207122.2(EXT2):c.1812del (p.Phe604fs)
|
|
|
NM_207122.2(EXT2):c.1823A>G (p.Tyr608Cys)
|
rs1590667793
|
|
NM_207122.2(EXT2):c.182G>T (p.Arg61Leu)
|
|
|
NM_207122.2(EXT2):c.1835T>C (p.Met612Thr)
|
|
|
NM_207122.2(EXT2):c.1854C>G (p.Asn618Lys)
|
|
|
NM_207122.2(EXT2):c.1855T>C (p.Trp619Arg)
|
|
|
NM_207122.2(EXT2):c.1860A>G (p.Val620=)
|
|
|
NM_207122.2(EXT2):c.1863T>C (p.Asp621=)
|
|
|
NM_207122.2(EXT2):c.1876T>C (p.Cys626Arg)
|
rs2135263090
|
|
NM_207122.2(EXT2):c.1892T>C (p.Met631Thr)
|
|
|
NM_207122.2(EXT2):c.1894A>G (p.Asn632Asp)
|
rs1334534184
|
|
NM_207122.2(EXT2):c.1898_1899delinsCT (p.Phe633Ser)
|
|
|
NM_207122.2(EXT2):c.18G>A (p.Lys6=)
|
rs375300731
|
|
NM_207122.2(EXT2):c.1900C>T (p.Leu634=)
|
rs1955932950
|
|
NM_207122.2(EXT2):c.190C>T (p.Arg64Cys)
|
|
|
NM_207122.2(EXT2):c.1910A>G (p.Asn637Ser)
|
|
|
NM_207122.2(EXT2):c.1911C>T (p.Asn637=)
|
|
|
NM_207122.2(EXT2):c.1917G>A (p.Thr639=)
|
|
|
NM_207122.2(EXT2):c.1924G>A (p.Ala642Thr)
|
|
|
NM_207122.2(EXT2):c.192T>C (p.Arg64=)
|
rs2134966282
|
|
NM_207122.2(EXT2):c.1930del (p.Ile644fs)
|
|
|
NM_207122.2(EXT2):c.1935+19C>T
|
|
|
NM_207122.2(EXT2):c.1935+1G>T
|
|
|
NM_207122.2(EXT2):c.1935+3A>C
|
|
|
NM_207122.2(EXT2):c.1936-10C>T
|
|
|
NM_207122.2(EXT2):c.1936-12C>T
|
|
|
NM_207122.2(EXT2):c.1936-14T>C
|
rs2135267767
|
|
NM_207122.2(EXT2):c.1958A>G (p.Lys653Arg)
|
|
|
NM_207122.2(EXT2):c.1959G>A (p.Lys653=)
|
|
|
NM_207122.2(EXT2):c.1977_1987del (p.Ile660fs)
|
|
|
NM_207122.2(EXT2):c.1985G>C (p.Gly662Ala)
|
|
|
NM_207122.2(EXT2):c.198G>C (p.Val66=)
|
rs775542605
|
|
NM_207122.2(EXT2):c.2000A>G (p.Gln667Arg)
|
|
|
NM_207122.2(EXT2):c.200C>T (p.Pro67Leu)
|
|
|
NM_207122.2(EXT2):c.2018+17C>A
|
|
|
NM_207122.2(EXT2):c.2019-2A>G
|
|
|
NM_207122.2(EXT2):c.2019-2del
|
|
|
NM_207122.2(EXT2):c.2028C>T (p.Cys676=)
|
|
|
NM_207122.2(EXT2):c.2031CAA[1] (p.Asn678del)
|
rs753223281
|
|
NM_207122.2(EXT2):c.203_258del (p.Val68fs)
|
rs1954081053
|
|
NM_207122.2(EXT2):c.2046A>G (p.Ser682=)
|
|
|
NM_207122.2(EXT2):c.2050T>C (p.Phe684Leu)
|
rs1956070950
|
|
NM_207122.2(EXT2):c.2054G>C (p.Gly685Ala)
|
rs1389539812
|
|
NM_207122.2(EXT2):c.205G>A (p.Val69Ile)
|
rs200809171
|
|
NM_207122.2(EXT2):c.2063C>T (p.Pro688Leu)
|
|
|
NM_207122.2(EXT2):c.2083C>T (p.Arg695Ter)
|
|
|
NM_207122.2(EXT2):c.20A>G (p.Tyr7Cys)
|
|
|
NM_207122.2(EXT2):c.2103C>T (p.Tyr701=)
|
|
|
NM_207122.2(EXT2):c.210G>A (p.Arg70=)
|
|
|
NM_207122.2(EXT2):c.211del (p.Leu71fs)
|
rs1954081372
|
|
NM_207122.2(EXT2):c.2120A>G (p.Glu707Gly)
|
rs769426160
|
|
NM_207122.2(EXT2):c.2126T>A (p.Leu709Gln)
|
|
|
NM_207122.2(EXT2):c.2130G>A (p.Lys710=)
|
rs2135284224
|
|
NM_207122.2(EXT2):c.220G>A (p.Asp74Asn)
|
|
|
NM_207122.2(EXT2):c.226C>A (p.Pro76Thr)
|
rs999897934
|
|
NM_207122.2(EXT2):c.22A>G (p.Asn8Asp)
|
|
|
NM_207122.2(EXT2):c.236A>G (p.Glu79Gly)
|
|
|
NM_207122.2(EXT2):c.238del (p.Arg80fs)
|
rs1565196333
|
|
NM_207122.2(EXT2):c.239G>A (p.Arg80Gln)
|
rs763536229
|
|
NM_207122.2(EXT2):c.244del (p.Asp82fs)
|
rs1555002457
|
|
NM_207122.2(EXT2):c.244dup (p.Asp82fs)
|
rs1555002457
|
|
NM_207122.2(EXT2):c.245A>C (p.Asp82Ala)
|
rs534539796
|
|
NM_207122.2(EXT2):c.245dup (p.Asp82fs)
|
rs1555002460
|
|
NM_207122.2(EXT2):c.248_249del (p.Leu83fs)
|
|
|
NM_207122.2(EXT2):c.257_263del (p.Arg86fs)
|
rs1954082764
|
|
NM_207122.2(EXT2):c.261G>A (p.Met87Ile)
|
rs758194845
|
|
NM_207122.2(EXT2):c.265A>G (p.Thr89Ala)
|
|
|
NM_207122.2(EXT2):c.278T>C (p.Val93Ala)
|
|
|
NM_207122.2(EXT2):c.281A>G (p.Tyr94Cys)
|
|
|
NM_207122.2(EXT2):c.282T>A (p.Tyr94Ter)
|
rs2134967046
|
|
NM_207122.2(EXT2):c.28C>A (p.Arg10=)
|
rs4755228
|
|
NM_207122.2(EXT2):c.28C>T (p.Arg10Trp)
|
|
|
NM_207122.2(EXT2):c.292T>C (p.Phe98Leu)
|
|
|
NM_207122.2(EXT2):c.306C>T (p.Asn102=)
|
rs2134967175
|
|
NM_207122.2(EXT2):c.307A>G (p.Lys103Glu)
|
rs907886635
|
|
NM_207122.2(EXT2):c.308A>C (p.Lys103Thr)
|
rs1321100355
|
|
NM_207122.2(EXT2):c.314del (p.Lys105fs)
|
rs1954084273
|
|
NM_207122.2(EXT2):c.315G>A (p.Lys105=)
|
|
|
NM_207122.2(EXT2):c.31G>A (p.Gly11Ser)
|
rs886048274
|
|
NM_207122.2(EXT2):c.320A>G (p.Tyr107Cys)
|
|
|
NM_207122.2(EXT2):c.321T>A (p.Tyr107Ter)
|
rs767802942
|
|
NM_207122.2(EXT2):c.321T>C (p.Tyr107=)
|
|
|
NM_207122.2(EXT2):c.33T>C (p.Gly11=)
|
|
|
NM_207122.2(EXT2):c.362_363del (p.Ser121fs)
|
rs1565196489
|
|
NM_207122.2(EXT2):c.374C>G (p.Thr125Ser)
|
|
|
NM_207122.2(EXT2):c.376A>G (p.Ile126Val)
|
|
|
NM_207122.2(EXT2):c.377T>G (p.Ile126Ser)
|
rs2134967559
|
|
NM_207122.2(EXT2):c.37G>A (p.Ala13Thr)
|
rs1389288265
|
|
NM_207122.2(EXT2):c.383_390del (p.Arg128fs)
|
|
|
NM_207122.2(EXT2):c.393T>C (p.Asn131=)
|
|
|
NM_207122.2(EXT2):c.394G>C (p.Glu132Gln)
|
rs1954086080
|
|
NM_207122.2(EXT2):c.394G>T (p.Glu132Ter)
|
rs1954086080
|
|
NM_207122.2(EXT2):c.398T>G (p.Leu133Arg)
|
|
|
NM_207122.2(EXT2):c.398_401dup (p.Met135fs)
|
rs886041272
|
|
NM_207122.2(EXT2):c.398_402del (p.Leu133fs)
|
rs2134967717
|
|
NM_207122.2(EXT2):c.410T>C (p.Ile137Thr)
|
|
|
NM_207122.2(EXT2):c.417C>A (p.Asp139Glu)
|
|
|
NM_207122.2(EXT2):c.417C>T (p.Asp139=)
|
|
|
NM_207122.2(EXT2):c.422A>T (p.Asp141Val)
|
|
|
NM_207122.2(EXT2):c.423C>T (p.Asp141=)
|
rs199916419
|
|
NM_207122.2(EXT2):c.426C>G (p.Tyr142Ter)
|
rs569199683
|
|
NM_207122.2(EXT2):c.429C>A (p.Tyr143Ter)
|
rs1555002543
|
|
NM_207122.2(EXT2):c.430A>G (p.Thr144Ala)
|
|
|
NM_207122.2(EXT2):c.443A>G (p.Asn148Ser)
|
|
|
NM_207122.2(EXT2):c.446G>A (p.Arg149Gln)
|
|
|
NM_207122.2(EXT2):c.454_457del (p.Val154fs)
|
rs864309636
|
|
NM_207122.2(EXT2):c.456G>C (p.Leu152=)
|
|
|
NM_207122.2(EXT2):c.459_462del (p.Val154fs)
|
rs1954088614
|
|
NM_207122.2(EXT2):c.469A>C (p.Ile157Leu)
|
|
|
NM_207122.2(EXT2):c.471C>A (p.Ile157=)
|
rs747429885
|
|
NM_207122.2(EXT2):c.472G>A (p.Asp158Asn)
|
|
|
NM_207122.2(EXT2):c.473A>G (p.Asp158Gly)
|
rs1954089321
|
|
NM_207122.2(EXT2):c.474T>A (p.Asp158Glu)
|
|
|
NM_207122.2(EXT2):c.482del (p.Asn161fs)
|
rs1590548336
|
|
NM_207122.2(EXT2):c.487A>T (p.Asn163Tyr)
|
rs1954089713
|
|
NM_207122.2(EXT2):c.491C>T (p.Thr164Ile)
|
|
|
NM_207122.2(EXT2):c.495G>A (p.Leu165=)
|
|
|
NM_207122.2(EXT2):c.496C>T (p.Arg166Cys)
|
|
|
NM_207122.2(EXT2):c.50G>A (p.Arg17Lys)
|
rs1240693088
|
|
NM_207122.2(EXT2):c.514C>T (p.Gln172Ter)
|
rs121918279
|
|
NM_207122.2(EXT2):c.516A>G (p.Gln172=)
|
|
|
NM_207122.2(EXT2):c.516del (p.Ala173fs)
|
rs2134968744
|
|
NM_207122.2(EXT2):c.518C>T (p.Ala173Val)
|
|
|
NM_207122.2(EXT2):c.519G>A (p.Ala173=)
|
|
|
NM_207122.2(EXT2):c.519G>C (p.Ala173=)
|
rs148121594
|
|
NM_207122.2(EXT2):c.520A>C (p.Met174Leu)
|
rs111589746
|
|
NM_207122.2(EXT2):c.520A>T (p.Met174Leu)
|
rs111589746
|
|
NM_207122.2(EXT2):c.528_529delinsAA (p.Leu177Ile)
|
|
|
NM_207122.2(EXT2):c.534T>C (p.Ser178=)
|
|
|
NM_207122.2(EXT2):c.536+10A>T
|
rs748432706
|
|
NM_207122.2(EXT2):c.536+14A>G
|
|
|
NM_207122.2(EXT2):c.536+15T>A
|
|
|
NM_207122.2(EXT2):c.536+17C>A
|
|
|
NM_207122.2(EXT2):c.536+19G>C
|
|
|
NM_207122.2(EXT2):c.536+1G>A
|
rs1954091762
|
|
NM_207122.2(EXT2):c.536+1G>C
|
rs1954091762
|
|
NM_207122.2(EXT2):c.536+20C>G
|
|
|
NM_207122.2(EXT2):c.536+7C>G
|
rs755324495
|
|
NM_207122.2(EXT2):c.537-4_561del
|
rs2134971478
|
|
NM_207122.2(EXT2):c.537G>A (p.Arg179=)
|
|
|
NM_207122.2(EXT2):c.539G>A (p.Trp180Ter)
|
rs886039565
|
|
NM_207122.2(EXT2):c.540G>A (p.Trp180Ter)
|
rs2134971524
|
|
NM_207122.2(EXT2):c.544C>T (p.Arg182Ter)
|
rs886039358
|
|
NM_207122.2(EXT2):c.545G>A (p.Arg182Gln)
|
rs563383543
|
|
NM_207122.2(EXT2):c.545G>T (p.Arg182Leu)
|
rs563383543
|
|
NM_207122.2(EXT2):c.553_558del (p.Asn185_His186del)
|
rs761364688
|
|
NM_207122.2(EXT2):c.561G>C (p.Leu187=)
|
|
|
NM_207122.2(EXT2):c.561GTT[1] (p.Leu188del)
|
rs1954106603
|
|
NM_207122.2(EXT2):c.570C>T (p.Asn190=)
|
|
|
NM_207122.2(EXT2):c.571A>G (p.Met191Val)
|
rs1324170921
|
|
NM_207122.2(EXT2):c.572T>C (p.Met191Thr)
|
|
|
NM_207122.2(EXT2):c.587C>T (p.Pro196Leu)
|
|
|
NM_207122.2(EXT2):c.590del (p.Pro197fs)
|
rs1565197245
|
|
NM_207122.2(EXT2):c.593A>C (p.Asp198Ala)
|
|
|
NM_207122.2(EXT2):c.599A>G (p.Asn200Ser)
|
rs1954107822
|
|
NM_207122.2(EXT2):c.602_603del (p.Thr201fs)
|
rs1954107890
|
|
NM_207122.2(EXT2):c.610del (p.Asp204fs)
|
|
|
NM_207122.2(EXT2):c.618C>A (p.Pro206=)
|
|
|
NM_207122.2(EXT2):c.61A>G (p.Lys21Glu)
|
rs2134965342
|
|
NM_207122.2(EXT2):c.620_626+158del
|
rs2134971964
|
|
NM_207122.2(EXT2):c.626+14T>C
|
|
|
NM_207122.2(EXT2):c.626+19G>A
|
rs370903897
|
|
NM_207122.2(EXT2):c.626+1G>A
|
rs1057521132
|
|
NM_207122.2(EXT2):c.626+1G>T
|
rs1057521132
|
|
NM_207122.2(EXT2):c.626+2T>G
|
rs1954108778
|
|
NM_207122.2(EXT2):c.626+2_626+5del
|
rs1954108641
|
|
NM_207122.2(EXT2):c.626+6A>T
|
|
|
NM_207122.2(EXT2):c.626+6_626+8del
|
|
|
NM_207122.2(EXT2):c.626G>A (p.Arg209Lys)
|
|
|
NM_207122.2(EXT2):c.627-18A>G
|
|
|
NM_207122.2(EXT2):c.627-2A>G
|
rs1064793854
|
|
NM_207122.2(EXT2):c.640G>T (p.Gly214Cys)
|
|
|
NM_207122.2(EXT2):c.64_68del (p.His22fs)
|
rs2134965356
|
|
NM_207122.2(EXT2):c.657G>A (p.Thr219=)
|
|
|
NM_207122.2(EXT2):c.658T>C (p.Trp220Arg)
|
|
|
NM_207122.2(EXT2):c.659G>A (p.Trp220Ter)
|
|
|
NM_207122.2(EXT2):c.65A>G (p.His22Arg)
|
rs1954077075
|
|
NM_207122.2(EXT2):c.666C>G (p.Tyr222Ter)
|
rs121918281
|
|
NM_207122.2(EXT2):c.668G>A (p.Arg223Gln)
|
|
|
NM_207122.2(EXT2):c.668G>C (p.Arg223Pro)
|
rs764379119
|
|
NM_207122.2(EXT2):c.669G>A (p.Arg223=)
|
rs141410374
|
|
NM_207122.2(EXT2):c.670C>T (p.Gln224Ter)
|
rs1565199251
|
|
NM_207122.2(EXT2):c.678C>A (p.Tyr226Ter)
|
|
|
NM_207122.2(EXT2):c.679G>A (p.Asp227Asn)
|
rs121918280
|
|
NM_207122.2(EXT2):c.680A>G (p.Asp227Gly)
|
rs2134984829
|
|
NM_207122.2(EXT2):c.680A>T (p.Asp227Val)
|
rs2134984829
|
|
NM_207122.2(EXT2):c.687C>T (p.Ser229=)
|
rs2134984902
|
|
NM_207122.2(EXT2):c.695T>G (p.Val232Gly)
|
|
|
NM_207122.2(EXT2):c.699T>G (p.Tyr233Ter)
|
rs1319747883
|
|
NM_207122.2(EXT2):c.69A>T (p.Arg23=)
|
rs2134965405
|
|
NM_207122.2(EXT2):c.701G>T (p.Ser234Ile)
|
|
|
NM_207122.2(EXT2):c.705A>G (p.Pro235=)
|
|
|
NM_207122.2(EXT2):c.705_706del (p.Leu236fs)
|
rs2134985142
|
|
NM_207122.2(EXT2):c.717G>A (p.Glu239=)
|
|
|
NM_207122.2(EXT2):c.720G>A (p.Val240=)
|
|
|
NM_207122.2(EXT2):c.724C>T (p.Leu242Phe)
|
|
|
NM_207122.2(EXT2):c.728del (p.Pro243fs)
|
rs2134985434
|
|
NM_207122.2(EXT2):c.729del (p.Glu244fs)
|
rs2134985455
|
|
NM_207122.2(EXT2):c.739C>G (p.Pro247Ala)
|
|
|
NM_207122.2(EXT2):c.740C>A (p.Pro247Gln)
|
rs372237191
|
|
NM_207122.2(EXT2):c.740C>G (p.Pro247Arg)
|
rs372237191
|
|
NM_207122.2(EXT2):c.743+1G>A
|
rs886039567
|
|
NM_207122.2(EXT2):c.743+1_743+2dup
|
rs1590555709
|
|
NM_207122.2(EXT2):c.744-10dup
|
|
|
NM_207122.2(EXT2):c.744-12T>C
|
|
|
NM_207122.2(EXT2):c.744-16T>G
|
|
|
NM_207122.2(EXT2):c.744-1G>A
|
rs1954372994
|
|
NM_207122.2(EXT2):c.744-20C>T
|
rs2135014483
|
|
NM_207122.2(EXT2):c.744-2A>C
|
rs864309638
|
|
NM_207122.2(EXT2):c.744-8C>T
|
|
|
NM_207122.2(EXT2):c.750del (p.Gln251fs)
|
rs2135014654
|
|
NM_207122.2(EXT2):c.755A>G (p.Tyr252Cys)
|
|
|
NM_207122.2(EXT2):c.756C>A (p.Tyr252Ter)
|
rs1954373394
|
|
NM_207122.2(EXT2):c.756C>G (p.Tyr252Ter)
|
|
|
NM_207122.2(EXT2):c.758T>A (p.Phe253Tyr)
|
|
|
NM_207122.2(EXT2):c.760C>T (p.Leu254Phe)
|
|
|
NM_207122.2(EXT2):c.772C>T (p.Gln258Ter)
|
rs267606786
|
|
NM_207122.2(EXT2):c.773A>G (p.Gln258Arg)
|
rs2135014787
|
|
NM_207122.2(EXT2):c.779G>T (p.Gly260Val)
|
rs201895861
|
|
NM_207122.2(EXT2):c.779del (p.Gly260fs)
|
rs1410604006
|
|
NM_207122.2(EXT2):c.782_783del (p.Leu261fs)
|
rs1954374127
|
|
NM_207122.2(EXT2):c.783_784del (p.His262fs)
|
rs2135014852
|
|
NM_207122.2(EXT2):c.785A>G (p.His262Arg)
|
rs2135014871
|
|
NM_207122.2(EXT2):c.785dup (p.His262fs)
|
rs1555005328
|
|
NM_207122.2(EXT2):c.798A>G (p.Arg266=)
|
|
|
NM_207122.2(EXT2):c.805C>T (p.Leu269=)
|
rs773486418
|
|
NM_207122.2(EXT2):c.814C>T (p.Leu272Phe)
|
|
|
NM_207122.2(EXT2):c.817C>T (p.Gln273Ter)
|
rs1954375189
|
|
NM_207122.2(EXT2):c.82_143del (p.Thr28fs)
|
|
|
NM_207122.2(EXT2):c.830G>C (p.Gly277Ala)
|
|
|
NM_207122.2(EXT2):c.832G>T (p.Glu278Ter)
|
|
|
NM_207122.2(EXT2):c.839T>A (p.Val280Glu)
|
|
|
NM_207122.2(EXT2):c.844G>A (p.Val282Ile)
|
|
|
NM_207122.2(EXT2):c.84C>A (p.Thr28=)
|
|
|
NM_207122.2(EXT2):c.84C>T (p.Thr28=)
|
rs1954077511
|
|
NM_207122.2(EXT2):c.850G>A (p.Asp284Asn)
|
|
|
NM_207122.2(EXT2):c.856T>C (p.Cys286Arg)
|
|
|
NM_207122.2(EXT2):c.857G>A (p.Cys286Tyr)
|
|
|
NM_207122.2(EXT2):c.859del (p.Thr287fs)
|
|
|
NM_207122.2(EXT2):c.869C>A (p.Ser290Ter)
|
|
|
NM_207122.2(EXT2):c.871G>T (p.Glu291Ter)
|
|
|
NM_207122.2(EXT2):c.87_88del (p.Phe30fs)
|
rs886039744
|
|
NM_207122.2(EXT2):c.886G>C (p.Val296Leu)
|
rs1954377301
|
|
NM_207122.2(EXT2):c.887T>A (p.Val296Asp)
|
|
|
NM_207122.2(EXT2):c.899_910dup (p.His303_Gln304insArgHisLysHis)
|
|
|
NM_207122.2(EXT2):c.89del (p.Phe30fs)
|
rs2134965481
|
|
NM_207122.2(EXT2):c.906_907dup (p.His303fs)
|
rs886041199
|
|
NM_207122.2(EXT2):c.909_910insGATGTCAGCATTCCTGTCTATAATCC (p.Gln304fs)
|
rs2135015566
|
|
NM_207122.2(EXT2):c.913G>C (p.Val305Leu)
|
|
|
NM_207122.2(EXT2):c.913del (p.Val305fs)
|
rs1954378294
|
|
NM_207122.2(EXT2):c.919G>C (p.Asp307His)
|
|
|
NM_207122.2(EXT2):c.920A>G (p.Asp307Gly)
|
rs1260423517
|
|
NM_207122.2(EXT2):c.922T>C (p.Tyr308His)
|
rs2135015647
|
|
NM_207122.2(EXT2):c.928C>T (p.Gln310Ter)
|
rs1555005398
|
|
NM_207122.2(EXT2):c.929A>T (p.Gln310Leu)
|
|
|
NM_207122.2(EXT2):c.931G>A (p.Val311Met)
|
rs1449762239
|
|
NM_207122.2(EXT2):c.933G>A (p.Val311=)
|
|
|
NM_207122.2(EXT2):c.937C>G (p.Gln313Glu)
|
rs763718818
|
|
NM_207122.2(EXT2):c.937C>T (p.Gln313Ter)
|
rs763718818
|
|
NM_207122.2(EXT2):c.939+11T>C
|
|
|
NM_207122.2(EXT2):c.939+14A>C
|
|
|
NM_207122.2(EXT2):c.939+1G>T
|
|
|
NM_207122.2(EXT2):c.939+1del
|
rs2135015765
|
|
NM_207122.2(EXT2):c.940-13del
|
rs765515424
|
|
NM_207122.2(EXT2):c.940-14T>G
|
|
|
NM_207122.2(EXT2):c.940-15T>C
|
|
|
NM_207122.2(EXT2):c.940-2A>G
|
rs1954411419
|
|
NM_207122.2(EXT2):c.942G>A (p.Glu314=)
|
|
|
NM_207122.2(EXT2):c.951C>T (p.Phe317=)
|
rs2135020214
|
|
NM_207122.2(EXT2):c.952T>C (p.Cys318Arg)
|
rs2135020224
|
|
NM_207122.2(EXT2):c.952_964del (p.Cys318fs)
|
rs1954411719
|
|
NM_207122.2(EXT2):c.953G>A (p.Cys318Tyr)
|
|
|
NM_207122.2(EXT2):c.955G>A (p.Val319Met)
|
|
|
NM_207122.2(EXT2):c.956T>C (p.Val319Ala)
|
|
|
NM_207122.2(EXT2):c.956_957del (p.Val319fs)
|
rs1590570665
|
|
NM_207122.2(EXT2):c.960del (p.Leu321fs)
|
rs1954412043
|
|
NM_207122.2(EXT2):c.964C>T (p.Arg322Cys)
|
|
|
NM_207122.2(EXT2):c.969A>G (p.Gly323=)
|
|
|
NM_207122.2(EXT2):c.988G>A (p.Val330Ile)
|
|
|
NM_207122.2(EXT2):c.999_1000inv (p.Val334Met)
|
|
|
NR_149149.2(NPM1):n.858_859del
|
rs2113301411
|
|
Single allele
|
|
|
inv(16)(p13.3q24.3)
|
|
|
t(11;12)(p15;p13)
|
|
|
t(11;17)(q23;q12-q21)
|
|
|
t(11;17)(q23;q25)
|
|
|
t(12;13)(p13.2;q12.2)
|
|
|
t(13;17)(q12.2;q11.2)
|
|
|
t(16;16)(p13.3;q24.3)
|
|
|