NM_001814.6(CTSC):c.458T>C (p.Ile153Thr)
|
rs217086
|
0.87257
|
NM_000518.5(HBB):c.9T>C (p.His3=)
|
rs713040
|
0.82706
|
NM_032043.3(BRIP1):c.2637A>G (p.Glu879=)
|
rs4986765
|
0.74166
|
NM_018062.4(FANCL):c.981T>C (p.Ser327=)
|
rs848291
|
0.69782
|
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_032043.3(BRIP1):c.3411T>C (p.Tyr1137=)
|
rs4986763
|
0.60694
|
NM_001374504.1(TMPRSS6):c.1536C>T (p.Asp512=)
|
rs4820268
|
0.59140
|
NM_000135.4(FANCA):c.796A>G (p.Thr266Ala)
|
rs7190823
|
0.52564
|
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser)
|
rs2239359
|
0.51262
|
NM_000173.7(GP1BA):c.1322_1344del (p.Ser441fs)
|
rs770089708
|
0.39537
|
NM_000506.5(F2):c.1726-59G>A
|
rs3136516
|
0.38221
|
NM_139027.6(ADAMTS13):c.1342C>G (p.Gln448Glu)
|
rs2301612
|
0.31482
|
NM_007294.4(BRCA1):c.2082C>T (p.Ser694=)
|
rs1799949
|
0.30810
|
NM_007294.4(BRCA1):c.3548A>G (p.Lys1183Arg)
|
rs16942
|
0.30784
|
NM_007294.4(BRCA1):c.4308T>C (p.Ser1436=)
|
rs1060915
|
0.29170
|
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly)
|
rs16941
|
0.29115
|
NM_007294.4(BRCA1):c.2311T>C (p.Leu771=)
|
rs16940
|
0.29035
|
NM_139027.6(ADAMTS13):c.4053C>A (p.Thr1351=)
|
rs1055432
|
0.26164
|
NM_001386140.1(MTTP):c.383T>C (p.Ile128Thr)
|
rs3816873
|
0.26064
|
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His)
|
rs144848
|
0.23116
|
NM_198253.3(TERT):c.915G>A (p.Ala305=)
|
rs2736098
|
0.21206
|
NM_002473.6(MYH9):c.4876A>G (p.Ile1626Val)
|
rs2269529
|
0.17342
|
NM_001710.5(CFB):c.94C>T (p.Arg32Trp)
|
rs12614
|
0.17324
|
NM_003136.4(SRP54):c.1327+16_1327+32del
|
rs369856554
|
0.16649
|
NM_030773.4(TUBB1):c.920G>A (p.Arg307His)
|
rs6070697
|
0.16486
|
NM_000175.5(GPI):c.489A>G (p.Gly163=)
|
rs1801015
|
0.14862
|
NM_000186.4(CFH):c.2808G>T (p.Glu936Asp)
|
rs1065489
|
0.14779
|
NM_001063.4(TF):c.1765C>T (p.Pro589Ser)
|
rs1049296
|
0.13332
|
NM_024675.4(PALB2):c.1676A>G (p.Gln559Arg)
|
rs152451
|
0.12980
|
NM_001318777.2(TIRAP):c.539C>T (p.Ser180Leu)
|
rs8177374
|
0.10979
|
NM_002834.5(PTPN11):c.-273G>A
|
rs58805176
|
0.10884
|
NM_000132.4(F8):c.6769A>G (p.Met2257Val)
|
rs1800297
|
0.07378
|
NM_000552.5(VWF):c.6554G>A (p.Arg2185Gln)
|
rs2229446
|
0.06069
|
NM_000135.4(FANCA):c.3067-4T>C
|
rs17227064
|
0.05860
|
NM_000489.6(ATRX):c.4659T>C (p.His1553=)
|
rs25641
|
0.05840
|
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn)
|
rs4986850
|
0.05782
|
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg)
|
rs1799950
|
0.04695
|
NM_031892.3(SH3KBP1):c.1266G>A (p.Pro422=)
|
rs2290805
|
0.04501
|
NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp)
|
rs1799944
|
0.04357
|
NM_002454.3(MTRR):c.1155G>A (p.Leu385=)
|
rs2287779
|
0.04224
|
NM_000324.3(RHAG):c.808G>A (p.Val270Ile)
|
rs16879498
|
0.04007
|
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val)
|
rs1801426
|
0.03864
|
NM_000552.5(VWF):c.3795G>A (p.Pro1265=)
|
rs2228319
|
0.03767
|
NM_000059.4(BRCA2):c.2229T>C (p.His743=)
|
rs1801499
|
0.03698
|
NM_000059.4(BRCA2):c.865A>C (p.Asn289His)
|
rs766173
|
0.03693
|
NM_000552.5(VWF):c.2451T>A (p.His817Gln)
|
rs57950734
|
0.03591
|
NM_003126.4(SPTA1):c.2909C>A (p.Ala970Asp)
|
rs35948326
|
0.03419
|
NM_001710.6(CFB):c.26T>A (p.Leu9His)
|
rs4151667
|
0.03314
|
NM_000489.6(ATRX):c.228G>A (p.Ser76=)
|
rs5959371
|
0.03016
|
NM_024675.4(PALB2):c.3300T>G (p.Thr1100=)
|
rs45516100
|
0.02529
|
NM_001021.6(RPS17):c.312A>G (p.Glu104=)
|
rs1049218128
|
0.02409
|
NM_000969.5(RPL5):c.165G>A (p.Val55=)
|
rs58263806
|
0.02253
|
NM_003126.4(SPTA1):c.2418G>A (p.Glu806=)
|
rs35318623
|
0.02245
|
NM_003126.4(SPTA1):c.3693C>T (p.Asp1231=)
|
rs34773716
|
0.02215
|
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln)
|
rs45532440
|
0.02171
|
NM_000096.4(CP):c.1652C>T (p.Thr551Ile)
|
rs61733458
|
0.02154
|
NM_002473.6(MYH9):c.1108+19C>T
|
rs78323081
|
0.02129
|
NM_021023.6(CFHR3):c.424C>T (p.Arg142Cys)
|
rs61737525
|
0.02034
|
NM_000552.5(VWF):c.3379+13G>A
|
rs2885752
|
0.01966
|
NM_003998.4(NFKB1):c.1519A>G (p.Met507Val)
|
rs4648072
|
0.01884
|
NM_005105.5(RBM8A):c.-21G>A
|
rs139428292
|
0.01871
|
NM_000342.4(SLC4A1):c.2712C>T (p.Tyr904=)
|
rs45519733
|
0.01857
|
NM_019594.4(LRRC8A):c.1458C>T (p.Pro486=)
|
rs11999276
|
0.01838
|
NM_001142864.4(PIEZO1):c.3129C>T (p.Leu1043=)
|
rs61742732
|
0.01802
|
NM_001113378.2(FANCI):c.3651+19G>A
|
rs73472624
|
0.01789
|
NM_018368.4(LMBRD1):c.980+11T>C
|
rs114726590
|
0.01756
|
NR_001566.3(TERC):n.58G>A
|
rs113487931
|
0.01733
|
NM_024675.4(PALB2):c.2993G>A (p.Gly998Glu)
|
rs45551636
|
0.01717
|
NM_000188.3(HK1):c.1031+6T>C
|
rs57012387
|
0.01704
|
NM_002074.5(GNB1):c.462C>T (p.Asp154=)
|
rs77027087
|
0.01689
|
NM_002520.7(NPM1):c.847-5T>C
|
rs191111314
|
0.01680
|
NM_006846.4(SPINK5):c.2762A>G (p.Asn921Ser)
|
rs73271166
|
0.01566
|
NM_003126.4(SPTA1):c.2353C>A (p.Arg785=)
|
rs2022057
|
0.01562
|
NM_001142864.4(PIEZO1):c.555C>T (p.Ala185=)
|
rs115481622
|
0.01551
|
NM_015338.6(ASXL1):c.374-9C>T
|
rs6087903
|
0.01488
|
NM_000136.3(FANCC):c.843+4C>T
|
rs4647506
|
0.01468
|
NM_000186.4(CFH):c.2236+8T>A
|
rs7537967
|
0.01429
|
NM_152703.5(SAMD9L):c.3102T>C (p.Asp1034=)
|
rs75823828
|
0.01398
|
NM_031471.6(FERMT3):c.1320G>A (p.Gln440=)
|
rs76744324
|
0.01379
|
NM_000301.5(PLG):c.1380T>A (p.Ser460Arg)
|
rs116573785
|
0.01344
|
NM_001142864.4(PIEZO1):c.132C>T (p.Phe44=)
|
rs112488313
|
0.01303
|
NM_000518.5(HBB):c.20A>T (p.Glu7Val)
|
rs334
|
0.01298
|
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe)
|
rs4987047
|
0.01281
|
NM_002296.4(LBR):c.843A>G (p.Val281=)
|
rs61749339
|
0.01280
|
NM_000312.4(PROC):c.1107G>A (p.Pro369=)
|
rs61731660
|
0.01266
|
NM_000096.4(CP):c.2378G>A (p.Arg793His)
|
rs115552500
|
0.01239
|
NM_001164277.2(SLC37A4):c.149-14A>G
|
rs79849261
|
0.01232
|
NM_001063.4(TF):c.887A>G (p.Asp296Gly)
|
rs8177238
|
0.01230
|
NM_000312.4(PROC):c.400+13G>A
|
rs116738363
|
0.01228
|
NM_001142864.4(PIEZO1):c.4872A>G (p.Ala1624=)
|
rs35375982
|
0.01227
|
NM_000059.4(BRCA2):c.8460A>C (p.Val2820=)
|
rs9590940
|
0.01220
|
NM_000037.4(ANK1):c.3813G>A (p.Glu1271=)
|
rs16890758
|
0.01205
|
NM_000892.5(KLKB1):c.1072A>G (p.Thr358Ala)
|
rs4253379
|
0.01167
|
NM_000892.5(KLKB1):c.519A>G (p.Gly173=)
|
rs4253350
|
0.01158
|
NM_000133.4(F9):c.278-27A>G
|
rs3134809
|
0.01152
|
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn)
|
rs4986852
|
0.01109
|
NM_000037.4(ANK1):c.489C>T (p.Leu163=)
|
rs34173100
|
0.01106
|
NM_018368.4(LMBRD1):c.801C>T (p.Arg267=)
|
rs34327883
|
0.01106
|
NM_001142864.4(PIEZO1):c.3363A>G (p.Thr1121=)
|
rs35100558
|
0.01077
|
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly)
|
rs2227945
|
0.01054
|
NM_005236.3(ERCC4):c.2655G>A (p.Thr885=)
|
rs16963255
|
0.01026
|
NM_021023.6(CFHR3):c.720G>C (p.Gln240His)
|
rs149347641
|
0.01005
|
NM_139027.6(ADAMTS13):c.2195C>T (p.Ala732Val)
|
rs41314453
|
0.01000
|
NM_002520.7(NPM1):c.543T>C (p.Phe181=)
|
rs61755048
|
0.00991
|
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg)
|
rs4986860
|
0.00984
|
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu)
|
rs56082113
|
0.00964
|
NM_001142864.4(PIEZO1):c.6294C>T (p.Tyr2098=)
|
rs35015310
|
0.00960
|
NM_002473.6(MYH9):c.1108+9C>T
|
rs145751072
|
0.00959
|
NM_002485.5(NBN):c.797C>T (p.Pro266Leu)
|
rs769420
|
0.00955
|
NM_000204.5(CFI):c.1534+5G>T
|
rs114013791
|
0.00951
|
NM_005050.4(ABCD4):c.195T>C (p.Ser65=)
|
rs35417609
|
0.00937
|
NM_001710.6(CFB):c.1137C>T (p.Arg379=)
|
rs45600936
|
0.00911
|
NM_001042492.3(NF1):c.2022C>T (p.Ser674=)
|
rs2230851
|
0.00908
|
NM_001128227.3(GNE):c.-10G>A
|
rs73449614
|
0.00894
|
NM_001014.5(RPS10):c.1-18A>G
|
rs115481077
|
0.00891
|
NM_002473.6(MYH9):c.2038-5T>C
|
rs8137674
|
0.00874
|
NM_001018115.3(FANCD2):c.2484G>A (p.Lys828=)
|
rs55980657
|
0.00869
|
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr)
|
rs11571707
|
0.00868
|
NM_203447.4(DOCK8):c.3840+3A>G
|
rs16938572
|
0.00865
|
NM_022081.6(HPS4):c.*477C>T
|
rs76496430
|
0.00851
|
NM_000546.6(TP53):c.97-6C>T
|
rs35117667
|
0.00847
|
NM_001376013.1(EPB41):c.1464-20T>C
|
rs139715164
|
0.00835
|
NM_002485.5(NBN):c.2146A>G (p.Asn716Asp)
|
rs72563785
|
0.00830
|
NM_152703.5(SAMD9L):c.3964T>C (p.Leu1322=)
|
rs73710962
|
0.00818
|
NM_021023.6(CFHR3):c.101T>G (p.Phe34Cys)
|
rs61737523
|
0.00809
|
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=)
|
rs36060526
|
0.00793
|
NM_000059.4(BRCA2):c.7017G>C (p.Lys2339Asn)
|
rs45574331
|
0.00792
|
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile)
|
rs11571831
|
0.00792
|
NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=)
|
rs34351119
|
0.00791
|
NM_014915.3(ANKRD26):c.3655G>A (p.Val1219Ile)
|
rs146819984
|
0.00781
|
NM_000301.5(PLG):c.1567C>T (p.Arg523Trp)
|
rs4252129
|
0.00772
|
NM_001018115.3(FANCD2):c.3105+15C>T
|
rs460965
|
0.00770
|
NM_002113.3(CFHR1):c.19del (p.Ser6_Val7insTer)
|
rs769938205
|
0.00770
|
NM_000186.4(CFH):c.1159+19T>G
|
rs35695425
|
0.00756
|
NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn)
|
rs61750442
|
0.00751
|
NM_001142864.4(PIEZO1):c.5195C>T (p.Thr1732Met)
|
rs139051768
|
0.00749
|
NM_001042492.3(NF1):c.7322-17C>T
|
rs17884859
|
0.00744
|
NM_002473.6(MYH9):c.1729-6C>T
|
rs9622375
|
0.00736
|
NM_033022.4(RPS24):c.177A>G (p.Gly59=)
|
rs6496
|
0.00736
|
NM_005157.6(ABL1):c.1899C>T (p.Ala633=)
|
rs2229068
|
0.00732
|
NM_001142864.4(PIEZO1):c.5552C>T (p.Thr1851Met)
|
rs34370460
|
0.00731
|
NM_001282933.2(ZNF341):c.340-20C>G
|
rs142373708
|
0.00712
|
NM_002485.5(NBN):c.1489A>G (p.Thr497Ala)
|
rs3026268
|
0.00711
|
NM_181507.2(HPS5):c.2441-8T>C
|
rs144196437
|
0.00708
|
NM_003126.4(SPTA1):c.441C>T (p.Thr147=)
|
rs73020287
|
0.00683
|
NM_004629.2(FANCG):c.988C>T (p.Pro330Ser)
|
rs4986940
|
0.00670
|
NM_000081.4(LYST):c.5945C>T (p.Thr1982Ile)
|
rs146591126
|
0.00669
|
NM_000064.4(C3):c.1976-19C>T
|
rs11569433
|
0.00656
|
NM_004327.4(BCR):c.606C>T (p.Ser202=)
|
rs147507158
|
0.00655
|
NM_000204.5(CFI):c.1206C>T (p.Pro402=)
|
rs115780371
|
0.00646
|
NM_001282933.2(ZNF341):c.366G>A (p.Pro122=)
|
rs75946243
|
0.00643
|
NM_000651.6(CR1):c.5811-11C>A
|
rs115988205
|
0.00628
|
NM_001113378.2(FANCI):c.3525C>A (p.Ala1175=)
|
rs114810692
|
0.00625
|
NM_032444.4(SLX4):c.90C>T (p.Ser30=)
|
rs118089506
|
0.00612
|
NM_005105.5(RBM8A):c.68-6T>C
|
rs112273321
|
0.00607
|
NM_000518.5(HBB):c.-273T>C
|
rs139703273
|
0.00604
|
NM_000760.4(CSF3R):c.2422G>A (p.Glu808Lys)
|
rs146617729
|
0.00588
|
NM_006846.4(SPINK5):c.802C>T (p.Arg268Cys)
|
rs142558269
|
0.00581
|
NM_000132.4(F8):c.1508G>A (p.Arg503His)
|
rs35383156
|
0.00563
|
NM_000037.4(ANK1):c.1999-17C>T
|
rs28571216
|
0.00543
|
NM_017654.4(SAMD9):c.1347T>C (p.Asn449=)
|
rs150107667
|
0.00542
|
NM_000057.4(BLM):c.2075-12G>T
|
rs28385027
|
0.00541
|
NM_002485.5(NBN):c.37+11A>G
|
rs115032431
|
0.00540
|
NM_000211.5(ITGB2):c.1888G>A (p.Glu630Lys)
|
rs2230531
|
0.00539
|
NM_001355436.2(SPTB):c.3764+9G>A
|
rs150423485
|
0.00537
|
NM_000173.7(GP1BA):c.106A>G (p.Arg36Gly)
|
rs111292798
|
0.00526
|
NM_000433.4(NCF2):c.1256A>T (p.Asn419Ile)
|
rs35012521
|
0.00520
|
NM_005105.5(RBM8A):c.67+32G>C
|
rs201779890
|
0.00518
|
NM_058216.3(RAD51C):c.572-17G>T
|
rs193023469
|
0.00513
|
NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp)
|
rs149842139
|
0.00511
|
NM_000254.3(MTR):c.3474G>A (p.Leu1158=)
|
rs142113735
|
0.00510
|
NM_001081.4(CUBN):c.4696-16G>T
|
rs140260072
|
0.00504
|
NM_004972.4(JAK2):c.3188G>A (p.Arg1063His)
|
rs41316003
|
0.00500
|
NM_001113378.2(FANCI):c.1699-7C>A
|
rs28446881
|
0.00498
|
NM_000505.4(F12):c.398-12C>T
|
rs56285942
|
0.00495
|
NM_013314.4(BLNK):c.472G>T (p.Ala158Ser)
|
rs148612299
|
0.00489
|
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=)
|
rs28897734
|
0.00488
|
NM_000505.4(F12):c.1272G>C (p.Thr424=)
|
rs61737766
|
0.00486
|
NM_005026.5(PIK3CD):c.1005C>T (p.Ala335=)
|
rs28730671
|
0.00483
|
NR_001566.3(TERC):n.228G>A
|
rs141686314
|
0.00478
|
NM_000250.2(MPO):c.2031-2A>C
|
rs35897051
|
0.00472
|
NM_030813.6(CLPB):c.668G>A (p.Ser223Asn)
|
rs143097446
|
0.00471
|
NM_000250.2(MPO):c.2187C>T (p.Asn729=)
|
rs113203253
|
0.00469
|
NM_002485.5(NBN):c.1882G>A (p.Glu628Lys)
|
rs115321485
|
0.00466
|
NM_007294.4(BRCA1):c.5468-10C>A
|
rs8176316
|
0.00464
|
NM_001018115.3(FANCD2):c.1634A>G (p.Asn545Ser)
|
rs145522204
|
0.00460
|
NM_139027.6(ADAMTS13):c.500C>T (p.Thr167Met)
|
rs141932927
|
0.00458
|
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg)
|
rs61759485
|
0.00451
|
NM_024675.4(PALB2):c.2794G>A (p.Val932Met)
|
rs45624036
|
0.00449
|
NM_000342.4(SLC4A1):c.12G>A (p.Leu4=)
|
rs115901854
|
0.00447
|
NM_001142864.4(PIEZO1):c.2865G>A (p.Gln955=)
|
rs35597347
|
0.00444
|
NM_000059.4(BRCA2):c.7008-62A>G
|
rs76584943
|
0.00439
|
NM_000096.4(CP):c.2522C>G (p.Thr841Arg)
|
rs56033670
|
0.00435
|
NM_000135.4(FANCA):c.903G>T (p.Val301=)
|
rs56062548
|
0.00432
|
NM_021922.3(FANCE):c.1572G>A (p.Arg524=)
|
rs115195341
|
0.00429
|
NM_015937.6(PIGT):c.969C>T (p.Thr323=)
|
rs116312756
|
0.00428
|
NM_001042492.3(NF1):c.2985G>C (p.Leu995=)
|
rs17881467
|
0.00426
|
NM_001081.4(CUBN):c.2791+9_2791+16del
|
rs375796983
|
0.00423
|
NM_000057.4(BLM):c.3128C>A (p.Ala1043Asp)
|
rs2229035
|
0.00421
|
NM_006185.4(NUMA1):c.2937T>C (p.Asn979=)
|
rs142372284
|
0.00416
|
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile)
|
rs8177988
|
0.00414
|
NM_000518.4(HBB):c.19G>A (p.Glu7Lys)
|
rs33930165
|
0.00414
|
NM_006185.4(NUMA1):c.5285G>A (p.Arg1762His)
|
rs149588226
|
0.00414
|
NM_001271696.3(ABCB7):c.312C>T (p.Leu104=)
|
rs140031135
|
0.00412
|
NM_000211.5(ITGB2):c.1542C>T (p.Cys514=)
|
rs2230530
|
0.00405
|
NM_000433.4(NCF2):c.1360C>T (p.Pro454Ser)
|
rs55761650
|
0.00401
|
NM_001113378.2(FANCI):c.1211T>C (p.Ile404Thr)
|
rs79080874
|
0.00400
|
NM_000064.4(C3):c.1119+15G>A
|
rs114252882
|
0.00399
|
NM_001754.5(RUNX1):c.351+15A>G
|
rs199881885
|
0.00396
|
NM_003200.5(TCF3):c.1713G>A (p.Glu571=)
|
rs143212973
|
0.00394
|
NM_000081.4(LYST):c.4863-19T>C
|
rs150288597
|
0.00393
|
NM_001710.6(CFB):c.1598A>G (p.Lys533Arg)
|
rs149101394
|
0.00391
|
NM_005476.7(GNE):c.624T>G (p.Asp208Glu)
|
rs35224402
|
0.00389
|
NM_001113378.2(FANCI):c.2832A>C (p.Arg944Ser)
|
rs79685648
|
0.00388
|
NM_000064.4(C3):c.3958C>A (p.Arg1320=)
|
rs141718696
|
0.00386
|
NM_001142864.4(PIEZO1):c.4955+3G>A
|
rs569520386
|
0.00382
|
NM_005157.6(ABL1):c.249T>G (p.Thr83=)
|
rs111886835
|
0.00382
|
NM_004134.7(HSPA9):c.21T>G (p.Ala7=)
|
rs36043650
|
0.00380
|
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln)
|
rs41276738
|
0.00377
|
NM_000631.5(NCF4):c.254C>A (p.Thr85Asn)
|
rs112306225
|
0.00377
|
NM_002473.6(MYH9):c.2229+13G>T
|
rs139146113
|
0.00377
|
NM_000301.5(PLG):c.1281G>A (p.Arg427=)
|
rs149909079
|
0.00373
|
NM_000397.4(CYBB):c.1090G>C (p.Gly364Arg)
|
rs141756032
|
0.00371
|
NM_025215.6(PUS1):c.397G>A (p.Asp133Asn)
|
rs76655496
|
0.00371
|
NM_000313.4(PROS1):c.*693G>A
|
rs189450409
|
0.00369
|
NM_172351.3(CD46):c.796G>A (p.Asp266Asn)
|
rs17006830
|
0.00369
|
NM_000130.5(F5):c.2129A>G (p.His710Arg)
|
rs115954845
|
0.00366
|
NM_032444.4(SLX4):c.5029C>T (p.Pro1677Ser)
|
rs7196345
|
0.00363
|
NM_018062.4(FANCL):c.670A>G (p.Thr224Ala)
|
rs149731356
|
0.00355
|
NM_001142864.4(PIEZO1):c.2330-16C>T
|
rs9940889
|
0.00354
|
NM_000552.5(VWF):c.7940C>T (p.Thr2647Met)
|
rs61751302
|
0.00352
|
NM_139027.6(ADAMTS13):c.1786+16G>A
|
rs36220948
|
0.00349
|
NM_030943.4(AMN):c.208-10T>C
|
rs115851517
|
0.00345
|
NM_000892.5(KLKB1):c.808A>G (p.Thr270Ala)
|
rs113884104
|
0.00344
|
NM_000342.4(SLC4A1):c.216G>T (p.Glu72Asp)
|
rs13306788
|
0.00342
|
NM_139027.6(ADAMTS13):c.1705+14C>T
|
rs191816433
|
0.00342
|
NM_000135.4(FANCA):c.932T>C (p.Ile311Thr)
|
rs75501942
|
0.00334
|
NM_138387.4(G6PC3):c.815A>G (p.Gln272Arg)
|
rs34491309
|
0.00334
|
NM_002250.3(KCNN4):c.820-2dup
|
rs574008067
|
0.00332
|
NM_000313.4(PROS1):c.1528G>A (p.Val510Met)
|
rs138925964
|
0.00331
|
NM_000975.5(RPL11):c.158-18G>C
|
rs115017937
|
0.00330
|
NM_004629.2(FANCG):c.238C>T (p.Leu80=)
|
rs115131067
|
0.00330
|
NM_032638.5(GATA2):c.710G>A (p.Gly237Asp)
|
rs191501191
|
0.00327
|
NM_001261826.3(AP3D1):c.463-4G>A
|
rs192634153
|
0.00324
|
NM_016038.4(SBDS):c.258+2T>C
|
rs113993993
|
0.00323
|
NM_033022.4(RPS24):c.*11G>A
|
rs139289215
|
0.00319
|
NM_001042492.3(NF1):c.340C>T (p.Leu114=)
|
rs7207410
|
0.00309
|
NM_005157.6(ABL1):c.822+16C>G
|
rs12551730
|
0.00309
|
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile)
|
rs4988346
|
0.00305
|
NC_000005.10:g.177409584C>G
|
rs41309132
|
0.00297
|
NM_000195.5(HPS1):c.1683C>T (p.Cys561=)
|
rs112337765
|
0.00297
|
NM_000133.4(F9):c.967G>A (p.Glu323Lys)
|
rs150351950
|
0.00294
|
NM_005689.4(ABCB6):c.688-9C>T
|
rs146410593
|
0.00294
|
NM_001081.4(CUBN):c.2103A>G (p.Thr701=)
|
rs143693723
|
0.00290
|
NM_020661.4(AICDA):c.74G>A (p.Arg25His)
|
rs61730095
|
0.00289
|
NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser)
|
rs45568339
|
0.00287
|
NM_000135.4(FANCA):c.3891G>A (p.Lys1297=)
|
rs17227361
|
0.00286
|
NM_005689.4(ABCB6):c.1361T>C (p.Val454Ala)
|
rs61733629
|
0.00285
|
NM_000301.5(PLG):c.112A>G (p.Lys38Glu)
|
rs73015965
|
0.00282
|
NM_000254.3(MTR):c.250-7G>A
|
rs184332230
|
0.00277
|
NM_001098426.2(SMARCD2):c.1545G>A (p.Val515=)
|
rs181910740
|
0.00276
|
NM_002485.5(NBN):c.1222A>G (p.Lys408Glu)
|
rs34120922
|
0.00276
|
NM_005263.5(GFI1):c.792C>T (p.Phe264=)
|
rs114487177
|
0.00276
|
NM_000969.5(RPL5):c.3+3G>C
|
rs200628272
|
0.00274
|
NM_002454.3(MTRR):c.1326C>T (p.Leu442=)
|
rs144781389
|
0.00274
|
NM_000130.5(F5):c.4923C>T (p.Leu1641=)
|
rs116809837
|
0.00272
|
NM_005141.5(FGB):c.682A>G (p.Thr228Ala)
|
rs149599496
|
0.00272
|
NM_000130.5(F5):c.6554A>G (p.Lys2185Arg)
|
rs6679078
|
0.00271
|
NM_000186.4(CFH):c.428-14T>C
|
rs184188486
|
0.00271
|
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp)
|
rs116100695
|
0.00270
|
NM_000186.4(CFH):c.3150T>C (p.Asn1050=)
|
rs113347629
|
0.00269
|
NM_033022.4(RPS24):c.168T>C (p.Phe56=)
|
rs57866839
|
0.00267
|
NM_002485.5(NBN):c.381T>C (p.Ala127=)
|
rs61754795
|
0.00266
|
NM_001142864.4(PIEZO1):c.7495T>C (p.Leu2499=)
|
rs35736353
|
0.00265
|
NM_001358263.1(HK1):c.53T>C (p.Leu18Pro)
|
rs79002951
|
0.00265
|
NM_000037.4(ANK1):c.5097-34C>T
|
rs185434561
|
0.00261
|
NM_000064.4(C3):c.4878T>C (p.Thr1626=)
|
rs1803223
|
0.00261
|
NM_001142864.4(PIEZO1):c.7317-5C>T
|
rs150172633
|
0.00261
|
NM_001282933.2(ZNF341):c.553C>T (p.Pro185Ser)
|
rs45577437
|
0.00260
|
NM_000135.4(FANCA):c.2021C>T (p.Ser674Leu)
|
rs17232973
|
0.00257
|
NM_001113378.2(FANCI):c.2011A>G (p.Ile671Val)
|
rs139814895
|
0.00257
|
NM_001081.4(CUBN):c.5011A>C (p.Arg1671=)
|
rs144472791
|
0.00255
|
NM_021922.3(FANCE):c.248+7C>A
|
rs186563531
|
0.00255
|
NM_000064.4(C3):c.463A>C (p.Lys155Gln)
|
rs147859257
|
0.00250
|
NM_000301.5(PLG):c.1431C>T (p.Ser477=)
|
rs4699
|
0.00248
|
NM_001113378.2(FANCI):c.2997C>T (p.Ser999=)
|
rs138675752
|
0.00248
|
NM_172351.3(CD46):c.926C>T (p.Pro309Leu)
|
rs41317833
|
0.00241
|
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile)
|
rs1800744
|
0.00240
|
NM_021871.4(FGA):c.181-14C>T
|
rs190703077
|
0.00240
|
NM_021871.4(FGA):c.300G>A (p.Lys100=)
|
rs112877216
|
0.00240
|
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile)
|
rs28897749
|
0.00239
|
NM_000064.4(C3):c.2394C>T (p.Ser798=)
|
rs112178657
|
0.00237
|
NM_022051.3(EGLN1):c.287C>T (p.Ala96Val)
|
rs113401862
|
0.00236
|
NM_139027.6(ADAMTS13):c.1705+7G>A
|
rs78739717
|
0.00233
|
NM_005188.4(CBL):c.869+19A>G
|
rs181589369
|
0.00232
|
NM_002473.6(MYH9):c.7C>G (p.Gln3Glu)
|
rs56200894
|
0.00231
|
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=)
|
rs1799952
|
0.00228
|
NM_001113378.2(FANCI):c.1179T>C (p.Tyr393=)
|
rs3743377
|
0.00228
|
NM_006363.6(SEC23B):c.2298C>T (p.Ala766=)
|
rs77945587
|
0.00228
|
NM_139027.6(ADAMTS13):c.3400+45C>T
|
rs141494468
|
0.00225
|
NM_000505.4(F12):c.-62C>T
|
rs187018744
|
0.00223
|
NM_000377.3(WAS):c.391G>A (p.Glu131Lys)
|
rs146220228
|
0.00222
|
NM_198253.3(TERT):c.1574-7G>A
|
rs34846301
|
0.00220
|
NM_000186.4(CFH):c.3207T>C (p.Ser1069=)
|
rs62641697
|
0.00219
|
NM_000552.5(VWF):c.6859C>T (p.Arg2287Trp)
|
rs61750625
|
0.00217
|
NM_007294.4(BRCA1):c.-19-361C>T
|
rs141625477
|
0.00217
|
NM_000130.5(F5):c.3162A>C (p.Glu1054Asp)
|
rs149026031
|
0.00216
|
NM_001021.6(RPS17):c.328-7G>A
|
rs975130647
|
0.00215
|
NM_001014.5(RPS10):c.408C>T (p.Ala136=)
|
rs147566753
|
0.00213
|
NM_000064.4(C3):c.1686+20G>A
|
rs76024222
|
0.00212
|
NM_032444.4(SLX4):c.2103G>C (p.Glu701Asp)
|
rs73505420
|
0.00210
|
NM_004356.4(CD81):c.414T>C (p.Asp138=)
|
rs143644902
|
0.00208
|
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro)
|
rs11571746
|
0.00202
|
NM_000135.4(FANCA):c.1830A>G (p.Ala610=)
|
rs1800338
|
0.00201
|
NM_001113378.2(FANCI):c.3592-8T>C
|
rs185599057
|
0.00200
|
NM_001042492.3(NF1):c.5035A>G (p.Ile1679Val)
|
rs147327414
|
0.00195
|
NM_000195.5(HPS1):c.80G>A (p.Arg27Gln)
|
rs116143727
|
0.00193
|
NM_024675.4(PALB2):c.1606C>T (p.Leu536=)
|
rs151162255
|
0.00193
|
NM_000064.4(C3):c.2245+15G>A
|
rs11569434
|
0.00192
|
NM_000059.4(BRCA2):c.231T>G (p.Thr77=)
|
rs114446594
|
0.00191
|
NM_000502.6(EPX):c.801+1G>A
|
rs34599426
|
0.00191
|
NM_005105.5(RBM8A):c.205+17C>A
|
rs115417561
|
0.00191
|
NM_000204.5(CFI):c.1443C>T (p.Val481=)
|
rs114091883
|
0.00190
|
NM_002454.3(MTRR):c.739C>T (p.Pro247Ser)
|
rs114053717
|
0.00190
|
NM_000064.4(C3):c.2685C>T (p.Ser895=)
|
rs138884408
|
0.00189
|
NM_001042492.3(NF1):c.7531G>C (p.Val2511Leu)
|
rs2230850
|
0.00189
|
NM_032444.4(SLX4):c.2328-9G>C
|
rs73505419
|
0.00188
|
NM_002473.6(MYH9):c.165C>T (p.Ile55=)
|
rs141948797
|
0.00187
|
NM_005957.5(MTHFR):c.1959G>A (p.Thr653=)
|
rs45572531
|
0.00187
|
NM_005957.5(MTHFR):c.1409A>T (p.Glu470Val)
|
rs142617551
|
0.00183
|
NM_024747.6(HPS6):c.632G>C (p.Gly211Ala)
|
rs200584437
|
0.00183
|
NM_000301.5(PLG):c.1803-17C>A
|
rs201530084
|
0.00180
|
NM_004132.5(HABP2):c.364C>T (p.Arg122Trp)
|
rs78201625
|
0.00179
|
NM_015338.6(ASXL1):c.2957A>G (p.Asn986Ser)
|
rs145132837
|
0.00178
|
NM_019616.4(F7):c.64+4C>T
|
rs187128791
|
0.00178
|
NM_020937.4(FANCM):c.5808C>T (p.Ser1936=)
|
rs142333130
|
0.00178
|
NM_005957.5(MTHFR):c.1555C>T (p.Arg519Cys)
|
rs45496998
|
0.00176
|
NM_001994.3(F13B):c.1163A>T (p.Glu388Val)
|
rs5991
|
0.00175
|
NM_000250.2(MPO):c.1705C>T (p.Arg569Trp)
|
rs119468010
|
0.00173
|
NM_006363.6(SEC23B):c.993+10C>G
|
rs201948587
|
0.00173
|
NM_021871.4(FGA):c.780G>A (p.Glu260=)
|
rs145563362
|
0.00167
|
NM_000969.5(RPL5):c.3+13C>T
|
rs189107197
|
0.00165
|
NM_005050.4(ABCD4):c.1411C>T (p.Arg471Trp)
|
rs45568335
|
0.00163
|
NM_000096.4(CP):c.2684G>C (p.Gly895Ala)
|
rs139633388
|
0.00162
|
NM_001018115.3(FANCD2):c.3560+20C>T
|
rs55804542
|
0.00162
|
NM_003200.5(TCF3):c.315G>A (p.Arg105=)
|
rs144176765
|
0.00160
|
NM_030943.4(AMN):c.1137G>T (p.Ala379=)
|
rs533317064
|
0.00159
|
NM_032782.5(HAVCR2):c.245A>G (p.Tyr82Cys)
|
rs184868814
|
0.00159
|
NM_000312.4(PROC):c.*146T>C
|
rs140461934
|
0.00158
|
NM_007294.4(BRCA1):c.1137T>G (p.Ile379Met)
|
rs56128296
|
0.00158
|
NM_000204.5(CFI):c.782G>A (p.Gly261Asp)
|
rs112534524
|
0.00153
|
NM_000301.5(PLG):c.1962G>T (p.Val654=)
|
rs4252196
|
0.00147
|
NM_020937.4(FANCM):c.1576C>G (p.Leu526Val)
|
rs144215747
|
0.00147
|
NM_001012339.3(DNAJC21):c.1186-531G>A
|
rs112971776
|
0.00144
|
NM_181507.2(HPS5):c.3046G>A (p.Glu1016Lys)
|
rs17853184
|
0.00144
|
NM_000064.4(C3):c.2901C>T (p.Leu967=)
|
rs34029609
|
0.00142
|
NM_002473.6(MYH9):c.705+14C>T
|
rs142552338
|
0.00139
|
NM_004629.2(FANCG):c.646+12A>G
|
rs17878604
|
0.00139
|
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp)
|
rs1800709
|
0.00137
|
NM_000195.5(HPS1):c.1406A>G (p.Gln469Arg)
|
rs148978269
|
0.00133
|
NM_001081.4(CUBN):c.349-8A>G
|
rs188559699
|
0.00129
|
NM_206937.2(LIG4):c.2525C>A (p.Ala842Asp)
|
rs72660870
|
0.00129
|
NM_015338.6(ASXL1):c.252+11T>C
|
rs143337375
|
0.00128
|
NM_000552.5(VWF):c.1817G>A (p.Arg606Gln)
|
rs200586078
|
0.00127
|
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=)
|
rs55865524
|
0.00127
|
NM_000265.7(NCF1):c.292T>G (p.Cys98Gly)
|
rs144018361
|
0.00124
|
NM_001018115.3(FANCD2):c.983G>A (p.Arg328Gln)
|
rs35625434
|
0.00124
|
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_018062.4(FANCL):c.1115G>C (p.Gly372Ala)
|
rs149803148
|
0.00121
|
NM_032444.4(SLX4):c.2305G>C (p.Glu769Gln)
|
rs150712805
|
0.00119
|
NM_005957.5(MTHFR):c.1556G>T (p.Arg519Leu)
|
rs45449298
|
0.00118
|
NM_019616.4(F7):c.1025G>A (p.Arg342Gln)
|
rs121964926
|
0.00118
|
NM_002473.6(MYH9):c.2913G>A (p.Ala971=)
|
rs200763055
|
0.00116
|
NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys)
|
rs61754109
|
0.00116
|
NM_000377.3(WAS):c.1453+16C>T
|
rs200543049
|
0.00115
|
NM_000407.5(GP1BB):c.119G>A (p.Gly40Glu)
|
rs375285857
|
0.00115
|
NM_030943.4(AMN):c.1169+11C>G
|
rs764673271
|
0.00115
|
NM_000061.3(BTK):c.615G>T (p.Glu205Asp)
|
rs35877704
|
0.00114
|
NM_005026.5(PIK3CD):c.2919C>T (p.Leu973=)
|
rs143168081
|
0.00114
|
NM_033022.4(RPS24):c.363A>G (p.Ala121=)
|
rs139181869
|
0.00114
|
NM_000130.5(F5):c.5265A>G (p.Ile1755Met)
|
rs41272455
|
0.00113
|
NM_003136.4(SRP54):c.636A>C (p.Ile212=)
|
rs140228686
|
0.00113
|
NM_019616.4(F7):c.1267G>A (p.Glu423Lys)
|
rs3093248
|
0.00113
|
NM_021023.6(CFHR3):c.805A>G (p.Ile269Val)
|
rs139520520
|
0.00112
|
NM_000265.7(NCF1):c.269G>A (p.Arg90His)
|
rs201802880
|
0.00110
|
NM_004972.4(JAK2):c.1641+6T>C
|
rs182123615
|
0.00109
|
NM_001022.4(RPS19):c.60C>G (p.Ala20=)
|
rs149249194
|
0.00108
|
NM_002473.6(MYH9):c.1228-16C>T
|
rs186815044
|
0.00106
|
NM_007294.4(BRCA1):c.3083G>A (p.Arg1028His)
|
rs80357459
|
0.00106
|
NM_139027.6(ADAMTS13):c.2708C>T (p.Ser903Leu)
|
rs78977446
|
0.00106
|
NM_000186.4(CFH):c.1935G>T (p.Thr645=)
|
rs56035657
|
0.00105
|
NM_000057.4(BLM):c.11T>C (p.Val4Ala)
|
rs144706057
|
0.00102
|
NM_000552.5(VWF):c.2739A>C (p.Gly913=)
|
rs35191786
|
0.00102
|
NM_019594.4(LRRC8A):c.1606G>A (p.Val536Ile)
|
rs138622041
|
0.00102
|
NM_001083116.3(PRF1):c.50del (p.Leu17fs)
|
rs147035858
|
0.00100
|
NM_033360.4(KRAS):c.5-18A>G
|
rs200189105
|
0.00100
|
NM_005236.3(ERCC4):c.1563C>G (p.Ser521Arg)
|
rs41552412
|
0.00099
|
NM_007294.4(BRCA1):c.5277+78G>A
|
rs80358107
|
0.00099
|
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr)
|
rs4986854
|
0.00098
|
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=)
|
rs28897711
|
0.00096
|
NM_001063.4(TF):c.1027C>T (p.Arg343Trp)
|
rs150854910
|
0.00096
|
NM_002834.5(PTPN11):c.526-17T>C
|
rs375184329
|
0.00096
|
NM_005334.3(HCFC1):c.5418G>A (p.Met1806Ile)
|
rs199511876
|
0.00094
|
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)
|
rs398124292
|
0.00093
|
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu)
|
rs121909551
|
0.00092
|
NC_000011.10:g.5227100T>C
|
rs34598529
|
0.00091
|
NM_001261826.3(AP3D1):c.1363G>A (p.Ala455Thr)
|
rs200459002
|
0.00091
|
NM_017654.4(SAMD9):c.3008A>G (p.Asn1003Ser)
|
rs146087534
|
0.00091
|
NM_000174.5(GP9):c.368C>T (p.Pro123Leu)
|
rs202229101
|
0.00089
|
NM_000760.4(CSF3R):c.355G>A (p.Ala119Thr)
|
rs142999683
|
0.00089
|
NM_002473.6(MYH9):c.5010G>A (p.Glu1670=)
|
rs76069100
|
0.00088
|
NM_003664.5(AP3B1):c.1198G>C (p.Ala400Pro)
|
rs150000996
|
0.00088
|
NM_006516.4(SLC2A1):c.680-12C>T
|
rs150960456
|
0.00088
|
NM_030943.4(AMN):c.844-3C>T
|
rs145519816
|
0.00088
|
NM_080669.6(SLC46A1):c.623A>T (p.Tyr208Phe)
|
rs201837257
|
0.00088
|
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp)
|
rs142572218
|
0.00088
|
NM_001271696.3(ABCB7):c.1032+12A>G
|
rs148980611
|
0.00087
|
NM_001364905.1(LRBA):c.4339+18G>A
|
rs199713609
|
0.00087
|
NM_032444.4(SLX4):c.1372A>G (p.Lys458Glu)
|
rs149126845
|
0.00087
|
NM_000064.4(C3):c.1344C>T (p.Thr448=)
|
rs150934856
|
0.00086
|
NM_000064.4(C3):c.4172+19G>A
|
rs181489450
|
0.00086
|
NM_000133.4(F9):c.19A>T (p.Ile7Phe)
|
rs150190385
|
0.00086
|
NM_002473.6(MYH9):c.5049C>A (p.Ile1683=)
|
rs147419066
|
0.00086
|
NM_020937.4(FANCM):c.1237T>C (p.Tyr413His)
|
rs138225703
|
0.00086
|
NM_001081.4(CUBN):c.6821+2T>C
|
rs150901286
|
0.00083
|
NM_001382567.1(STIM1):c.387A>G (p.Val129=)
|
rs116855870
|
0.00083
|
NM_005373.3(MPL):c.1120A>G (p.Thr374Ala)
|
rs190983971
|
0.00082
|
NM_000254.3(MTR):c.1862A>G (p.Asp621Gly)
|
rs61736440
|
0.00081
|
NM_001081.4(CUBN):c.5733+16C>T
|
rs139579256
|
0.00080
|
NM_005475.3(SH2B3):c.1198G>A (p.Glu400Lys)
|
rs72650673
|
0.00080
|
NM_001364905.1(LRBA):c.2209G>A (p.Val737Ile)
|
rs151213445
|
0.00078
|
NM_002473.6(MYH9):c.1843+14C>A
|
rs372865551
|
0.00078
|
NM_017654.4(SAMD9):c.1860A>G (p.Lys620=)
|
rs77922936
|
0.00078
|
NM_020207.7(ERCC6L2):c.3480T>C (p.Val1160=)
|
rs150957564
|
0.00078
|
NM_021922.3(FANCE):c.522G>A (p.Gly174=)
|
rs145648734
|
0.00078
|
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met)
|
rs117148013
|
0.00078
|
NM_000174.5(GP9):c.182A>G (p.Asn61Ser)
|
rs5030764
|
0.00076
|
NM_004132.5(HABP2):c.947G>A (p.Gly316Glu)
|
rs138864377
|
0.00076
|
NM_015338.6(ASXL1):c.2059T>C (p.Cys687Arg)
|
rs140197482
|
0.00076
|
NM_001081.4(CUBN):c.2110+18T>C
|
rs117028815
|
0.00075
|
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe)
|
rs41293475
|
0.00074
|
NM_000552.5(VWF):c.1625C>G (p.Ala542Gly)
|
rs141649383
|
0.00074
|
NM_000402.4(G6PD):c.934G>C (p.Asp312His)
|
rs137852318
|
0.00072
|
NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp)
|
rs200483477
|
0.00072
|
NM_001018115.3(FANCD2):c.1777C>T (p.Pro593Ser)
|
rs147523071
|
0.00071
|
NM_001113378.2(FANCI):c.824T>C (p.Ile275Thr)
|
rs142906652
|
0.00071
|
NM_001018115.3(FANCD2):c.577A>G (p.Thr193Ala)
|
rs34936017
|
0.00070
|
NM_001081.4(CUBN):c.10105A>G (p.Ser3369Gly)
|
rs145023719
|
0.00070
|
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser)
|
rs142248228
|
0.00070
|
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe)
|
rs55639415
|
0.00069
|
NM_152564.5(VPS13B):c.3811A>T (p.Thr1271Ser)
|
rs142674934
|
0.00069
|
NM_000064.4(C3):c.876+19G>A
|
rs11569574
|
0.00068
|
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr)
|
rs140601319
|
0.00068
|
NM_152564.5(VPS13B):c.7712C>T (p.Ser2571Phe)
|
rs145208175
|
0.00068
|
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu)
|
rs145890213
|
0.00068
|
NM_001018115.3(FANCD2):c.2269+12A>G
|
rs34751191
|
0.00067
|
NM_000128.4(F11):c.403G>T (p.Glu135Ter)
|
rs121965063
|
0.00066
|
NM_002473.6(MYH9):c.5877C>T (p.Ala1959=)
|
rs144179406
|
0.00066
|
NM_007294.4(BRCA1):c.1427A>G (p.His476Arg)
|
rs55720177
|
0.00066
|
NM_000128.4(F11):c.901T>C (p.Phe301Leu)
|
rs121965064
|
0.00065
|
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile)
|
rs1800704
|
0.00065
|
NM_032444.4(SLX4):c.5259C>T (p.Asp1753=)
|
rs144776083
|
0.00065
|
NM_000518.4(HBB):c.208G>A (p.Gly70Ser)
|
rs33947415
|
0.00064
|
NM_000551.4(VHL):c.340+578C>T
|
rs139622356
|
0.00064
|
NM_000631.5(NCF4):c.647C>T (p.Thr216Met)
|
rs146911421
|
0.00064
|
NM_006206.6(PDGFRA):c.1325T>C (p.Leu442Pro)
|
rs139236922
|
0.00064
|
NM_018389.5(SLC35C1):c.767G>A (p.Arg256His)
|
rs751906696
|
0.00064
|
NM_020937.4(FANCM):c.2859A>C (p.Lys953Asn)
|
rs142864437
|
0.00064
|
NM_000342.4(SLC4A1):c.2482-7C>T
|
rs371728036
|
0.00063
|
NM_015702.3(MMADHC):c.455C>G (p.Thr152Arg)
|
rs146795035
|
0.00063
|
NM_018368.4(LMBRD1):c.1056del (p.Asn353fs)
|
rs749272546
|
0.00062
|
NM_001355436.2(SPTB):c.4474-17C>T
|
rs192115079
|
0.00061
|
NM_002473.6(MYH9):c.4344+10C>T
|
rs200977419
|
0.00061
|
NM_021922.3(FANCE):c.229C>A (p.Pro77Thr)
|
rs587778335
|
0.00061
|
NM_024675.4(PALB2):c.2996+17T>C
|
rs180177128
|
0.00060
|
NM_001081.4(CUBN):c.8410+18T>C
|
rs186604664
|
0.00059
|
NM_007294.4(BRCA1):c.4691T>C (p.Leu1564Pro)
|
rs56119278
|
0.00059
|
NM_000313.4(PROS1):c.258A>G (p.Leu86=)
|
rs139964194
|
0.00058
|
NM_000975.5(RPL11):c.396+9A>G
|
rs201786327
|
0.00058
|
NM_020937.4(FANCM):c.5141C>T (p.Ala1714Val)
|
rs139383231
|
0.00058
|
NM_000552.5(VWF):c.8036A>G (p.Asn2679Ser)
|
rs151129435
|
0.00057
|
NM_001018115.3(FANCD2):c.3877G>A (p.Val1293Ile)
|
rs138398760
|
0.00057
|
NM_031471.6(FERMT3):c.1692C>T (p.Asp564=)
|
rs200243967
|
0.00057
|
NM_000057.4(BLM):c.968A>G (p.Lys323Arg)
|
rs146504061
|
0.00056
|
NM_000211.5(ITGB2):c.1358G>A (p.Ser453Asn)
|
rs138659490
|
0.00056
|
NM_000298.6(PKLR):c.1614A>T (p.Glu538Asp)
|
rs201217064
|
0.00056
|
NM_000342.4(SLC4A1):c.2340G>A (p.Leu780=)
|
rs139912334
|
0.00056
|
NM_001029.5(RPS26):c.-3A>G
|
rs181174349
|
0.00056
|
NM_002473.6(MYH9):c.4095+20C>T
|
rs201994553
|
0.00056
|
NM_005236.3(ERCC4):c.16C>T (p.Pro6Ser)
|
rs61760160
|
0.00056
|
NM_030943.4(AMN):c.835C>T (p.Leu279=)
|
rs371426960
|
0.00056
|
NM_000064.4(C3):c.2190C>T (p.Tyr730=)
|
rs142455019
|
0.00055
|
NM_173842.3(IL1RN):c.69G>A (p.Thr23=)
|
rs2232353
|
0.00055
|
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg)
|
rs28897712
|
0.00054
|
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn)
|
rs28897716
|
0.00054
|
NM_000265.7(NCF1):c.579G>A (p.Trp193Ter)
|
rs145360423
|
0.00054
|
NM_031471.6(FERMT3):c.930G>C (p.Val310=)
|
rs199508330
|
0.00054
|
NM_080669.6(SLC46A1):c.295T>C (p.Phe99Leu)
|
rs201862124
|
0.00054
|
NM_152564.5(VPS13B):c.1700G>A (p.Gly567Glu)
|
rs141046414
|
0.00054
|
NM_203447.4(DOCK8):c.3312G>C (p.Glu1104Asp)
|
rs138810908
|
0.00054
|
NM_000129.4(F13A1):c.1861G>T (p.Ala621Ser)
|
rs145180358
|
0.00053
|
NM_000135.4(FANCA):c.1047G>A (p.Ala349=)
|
rs144900606
|
0.00053
|
NM_000173.7(GP1BA):c.1845_1849del (p.Asn616fs)
|
rs772106076
|
0.00053
|
NM_001113378.2(FANCI):c.1893A>C (p.Leu631Phe)
|
rs118138806
|
0.00053
|
NM_001164277.2(SLC37A4):c.663G>A (p.Leu221=)
|
rs150083315
|
0.00053
|
NM_006947.4(SRP72):c.1704A>G (p.Pro568=)
|
rs41280351
|
0.00053
|
NM_020937.4(FANCM):c.2297A>G (p.Glu766Gly)
|
rs139946652
|
0.00053
|
NM_030943.4(AMN):c.1349A>G (p.Glu450Gly)
|
rs370794142
|
0.00053
|
NM_152564.5(VPS13B):c.5803T>G (p.Ser1935Ala)
|
rs138930771
|
0.00053
|
NM_152564.5(VPS13B):c.983A>G (p.His328Arg)
|
rs181625846
|
0.00053
|
NM_000081.4(LYST):c.8806G>A (p.Val2936Ile)
|
rs2753327
|
0.00052
|
NM_001042492.3(NF1):c.7461A>G (p.Thr2487=)
|
rs149924365
|
0.00052
|
NM_001081.4(CUBN):c.2016G>A (p.Pro672=)
|
rs148107237
|
0.00052
|
NM_000987.5(RPL26):c.168+17G>A
|
rs368557278
|
0.00051
|
NM_001113378.2(FANCI):c.3499T>G (p.Cys1167Gly)
|
rs61744917
|
0.00051
|
NM_001164277.2(SLC37A4):c.242C>T (p.Ser81Phe)
|
rs181879065
|
0.00051
|
NM_001250.6(CD40):c.*178G>A
|
rs565941222
|
0.00051
|
NM_004629.2(FANCG):c.478G>A (p.Ala160Thr)
|
rs140534765
|
0.00051
|
NM_022725.4(FANCF):c.385C>G (p.Leu129Val)
|
rs61753271
|
0.00051
|
NM_030943.4(AMN):c.63C>T (p.Ser21=)
|
rs150802428
|
0.00051
|
NM_032444.4(SLX4):c.4836C>T (p.Asp1612=)
|
rs140844106
|
0.00051
|
NM_000186.4(CFH):c.2509G>A (p.Val837Ile)
|
rs55807605
|
0.00050
|
NM_000186.4(CFH):c.2637A>G (p.Gly879=)
|
rs55752475
|
0.00050
|
NM_002473.6(MYH9):c.5542C>G (p.Leu1848Val)
|
rs201174456
|
0.00050
|
NM_000081.4(LYST):c.3083C>G (p.Ser1028Cys)
|
rs150636017
|
0.00049
|
NM_000195.5(HPS1):c.1897G>A (p.Asp633Asn)
|
rs150740880
|
0.00049
|
NM_020937.4(FANCM):c.5569G>A (p.Val1857Met)
|
rs144008013
|
0.00049
|
NM_000133.4(F9):c.*293C>T
|
rs747670394
|
0.00048
|
NM_001018115.3(FANCD2):c.1920A>C (p.Gln640His)
|
rs140452766
|
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_022725.4(FANCF):c.241G>T (p.Ala81Ser)
|
rs145057187
|
0.00048
|
NM_206937.2(LIG4):c.691C>T (p.Pro231Ser)
|
rs3093765
|
0.00048
|
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp)
|
rs143671872
|
0.00047
|
NM_001018115.3(FANCD2):c.4038+8G>A
|
rs190990145
|
0.00047
|
NM_002485.5(NBN):c.628G>T (p.Val210Phe)
|
rs61754796
|
0.00047
|
NM_002834.5(PTPN11):c.1379+20C>T
|
rs184743462
|
0.00047
|
NM_005188.4(CBL):c.*615C>T
|
rs769151797
|
0.00047
|
NM_020937.4(FANCM):c.1551G>A (p.Thr517=)
|
rs139535827
|
0.00047
|
NM_000342.4(SLC4A1):c.297C>T (p.Leu99=)
|
rs146541331
|
0.00046
|
NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu)
|
rs72554665
|
0.00046
|
NM_001018113.3(FANCB):c.1067C>T (p.Ser356Leu)
|
rs142304943
|
0.00046
|
NM_001164277.2(SLC37A4):c.1286A>C (p.Glu429Ala)
|
rs149974794
|
0.00046
|
NM_002473.6(MYH9):c.3485+18G>C
|
rs200835614
|
0.00046
|
NM_003998.4(NFKB1):c.1601G>A (p.Arg534His)
|
rs150281816
|
0.00046
|
NM_007294.4(BRCA1):c.2566T>C (p.Tyr856His)
|
rs80356892
|
0.00046
|
NM_020937.4(FANCM):c.159C>T (p.Asp53=)
|
rs147559750
|
0.00046
|
NM_032444.4(SLX4):c.2249C>T (p.Thr750Met)
|
rs145353518
|
0.00046
|
NM_000222.3(KIT):c.200C>G (p.Thr67Ser)
|
rs144933028
|
0.00045
|
NM_000969.5(RPL5):c.423C>T (p.Ala141=)
|
rs138277390
|
0.00045
|
NM_022725.4(FANCF):c.633G>T (p.Gln211His)
|
rs146975768
|
0.00045
|
NM_000064.4(C3):c.1449C>T (p.His483=)
|
rs140133060
|
0.00044
|
NM_000133.4(F9):c.907C>T (p.His303Tyr)
|
rs1801202
|
0.00044
|
NM_001022.4(RPS19):c.1-14A>G
|
rs201317022
|
0.00044
|
NM_001081.4(CUBN):c.3988C>T (p.His1330Tyr)
|
rs149749419
|
0.00044
|
NM_001081.4(CUBN):c.7434C>T (p.Cys2478=)
|
rs148976047
|
0.00044
|
NM_001282933.2(ZNF341):c.2560G>A (p.Glu854Lys)
|
rs145996048
|
0.00044
|
NM_020937.4(FANCM):c.2996C>T (p.Pro999Leu)
|
rs148304968
|
0.00044
|
NM_032444.4(SLX4):c.4658A>T (p.Asn1553Ile)
|
rs150460384
|
0.00044
|
NM_001113378.2(FANCI):c.2326A>G (p.Met776Val)
|
rs150544323
|
0.00043
|
NM_004364.5(CEBPA):c.667G>A (p.Gly223Ser)
|
rs535980233
|
0.00043
|
NM_139027.6(ADAMTS13):c.1290C>T (p.Ala430=)
|
rs138401488
|
0.00043
|
NM_000133.4(F9):c.8G>A (p.Arg3His)
|
rs148060786
|
0.00042
|
NM_000186.4(CFH):c.1825G>A (p.Val609Ile)
|
rs148165372
|
0.00042
|
NM_001164277.2(SLC37A4):c.205G>T (p.Val69Leu)
|
rs375754042
|
0.00042
|
NM_020207.7(ERCC6L2):c.1099T>C (p.Trp367Arg)
|
rs200807189
|
0.00042
|
NM_000064.4(C3):c.1452G>A (p.Glu484=)
|
rs146594928
|
0.00041
|
NM_000064.4(C3):c.1731T>C (p.Pro577=)
|
rs148182019
|
0.00041
|
NM_000096.4(CP):c.788A>G (p.Asn263Ser)
|
rs150303869
|
0.00041
|
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val)
|
rs138417003
|
0.00041
|
NM_000489.6(ATRX):c.2169G>C (p.Glu723Asp)
|
rs61752456
|
0.00041
|
NM_001081.4(CUBN):c.671G>A (p.Arg224His)
|
rs139891639
|
0.00041
|
NM_001081.4(CUBN):c.9061G>A (p.Glu3021Lys)
|
rs41289299
|
0.00041
|
NM_002296.4(LBR):c.1315-13T>C
|
rs201793983
|
0.00041
|
NM_020937.4(FANCM):c.874C>G (p.Pro292Ala)
|
rs142747831
|
0.00041
|
NM_139027.6(ADAMTS13):c.2890G>A (p.Val964Met)
|
rs141811556
|
0.00041
|
NM_152564.5(VPS13B):c.921G>A (p.Met307Ile)
|
rs140709787
|
0.00041
|
NM_000969.5(RPL5):c.3+12C>T
|
rs200130961
|
0.00040
|
NM_001081.4(CUBN):c.9826+15G>A
|
rs369467797
|
0.00040
|
NM_032444.4(SLX4):c.2160+18C>T
|
rs373726275
|
0.00040
|
NM_000186.4(CFH):c.2821G>T (p.Val941Phe)
|
rs529491401
|
0.00039
|
NM_000301.5(PLG):c.514A>G (p.Arg172Gly)
|
rs145535174
|
0.00039
|
NM_001022.4(RPS19):c.164C>T (p.Thr55Met)
|
rs147508369
|
0.00039
|
NM_001164277.2(SLC37A4):c.100G>A (p.Val34Ile)
|
rs782644732
|
0.00039
|
NM_002473.6(MYH9):c.1167C>T (p.Ile389=)
|
rs114048959
|
0.00039
|
NM_002473.6(MYH9):c.769+15C>T
|
rs201691359
|
0.00039
|
NM_022725.4(FANCF):c.637C>T (p.Pro213Ser)
|
rs201382399
|
0.00039
|
NM_033022.4(RPS24):c.378T>G (p.Gly126=)
|
rs151246531
|
0.00039
|
NM_139027.6(ADAMTS13):c.2308G>A (p.Val770Met)
|
rs374606481
|
0.00039
|
NM_000186.4(CFH):c.245-8C>T
|
rs537160602
|
0.00038
|
NM_000552.5(VWF):c.7619T>C (p.Val2540Ala)
|
rs150778949
|
0.00038
|
NM_001018113.3(FANCB):c.1393T>C (p.Ser465Pro)
|
rs143976596
|
0.00038
|
NM_002473.6(MYH9):c.5765+9C>T
|
rs201008102
|
0.00038
|
NM_019616.4(F7):c.995C>T (p.Ala332Val)
|
rs36209567
|
0.00038
|
NM_030943.4(AMN):c.735C>T (p.Pro245=)
|
rs546245909
|
0.00038
|
NM_000096.4(CP):c.1501A>C (p.Ser501Arg)
|
rs139756428
|
0.00037
|
NM_000136.3(FANCC):c.457-18A>G
|
rs377206543
|
0.00036
|
NM_000186.4(CFH):c.3133+8G>T
|
rs142718541
|
0.00036
|
NM_000195.5(HPS1):c.473G>A (p.Arg158His)
|
rs140480324
|
0.00036
|
NM_000204.5(CFI):c.319A>G (p.Thr107Ala)
|
rs201419000
|
0.00036
|
NM_000254.3(MTR):c.3712-7T>G
|
rs151081130
|
0.00036
|
NM_000361.3(THBD):c.1208G>A (p.Arg403Lys)
|
rs41400249
|
0.00036
|
NM_001006658.3(CR2):c.1210C>G (p.Pro404Ala)
|
rs148388565
|
0.00036
|
NM_001012339.3(DNAJC21):c.821G>A (p.Arg274Gln)
|
rs77129269
|
0.00036
|
NM_001113378.2(FANCI):c.1992+10T>C
|
rs375345390
|
0.00036
|
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)
|
rs77375493
|
0.00036
|
NM_032444.4(SLX4):c.2654C>T (p.Pro885Leu)
|
rs147492092
|
0.00036
|
NM_032444.4(SLX4):c.3671A>T (p.Glu1224Val)
|
rs566584111
|
0.00036
|
NM_139027.6(ADAMTS13):c.1810G>A (p.Val604Ile)
|
rs34256013
|
0.00036
|
NM_152866.3(MS4A1):c.352A>C (p.Ile118Leu)
|
rs201245387
|
0.00036
|
NM_000135.4(FANCA):c.543G>A (p.Ala181=)
|
rs143314367
|
0.00035
|
NM_000342.4(SLC4A1):c.1272C>T (p.Gly424=)
|
rs148115666
|
0.00035
|
NM_001081.4(CUBN):c.7533+17G>A
|
rs374394291
|
0.00035
|
NM_003664.5(AP3B1):c.279+16A>G
|
rs199804239
|
0.00035
|
NM_005373.3(MPL):c.305G>C (p.Arg102Pro)
|
rs28928907
|
0.00035
|
NM_024675.4(PALB2):c.1470C>T (p.Pro490=)
|
rs45612837
|
0.00035
|
NM_139027.6(ADAMTS13):c.427A>G (p.Ile143Val)
|
rs145175796
|
0.00035
|
NM_000204.5(CFI):c.429C>T (p.Ser143=)
|
rs112492491
|
0.00034
|
NM_001006658.3(CR2):c.3047C>T (p.Ser1016Leu)
|
rs138062179
|
0.00034
|
NM_001018115.3(FANCD2):c.246C>T (p.Thr82=)
|
rs371915501
|
0.00034
|
NM_001113378.2(FANCI):c.2291+12C>G
|
rs369540539
|
0.00034
|
NM_001364905.1(LRBA):c.3751A>G (p.Thr1251Ala)
|
rs143973442
|
0.00034
|
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)
|
rs140522266
|
0.00034
|
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer)
|
rs747253294
|
0.00034
|
NM_022725.4(FANCF):c.91G>A (p.Val31Met)
|
rs11556562
|
0.00034
|
NM_030943.4(AMN):c.321T>C (p.Ser107=)
|
rs563004567
|
0.00034
|
NM_030943.4(AMN):c.651+3G>T
|
rs751723677
|
0.00034
|
NM_032444.4(SLX4):c.4384G>T (p.Ala1462Ser)
|
rs138484365
|
0.00034
|
NM_080669.6(SLC46A1):c.*4418C>T
|
rs184621509
|
0.00034
|
NM_182916.3(TRNT1):c.343-14G>A
|
rs373630283
|
0.00034
|
NM_002485.5(NBN):c.425A>G (p.Asn142Ser)
|
rs769414
|
0.00033
|
NM_005236.3(ERCC4):c.217A>G (p.Ile73Val)
|
rs141591400
|
0.00033
|
NM_206965.2(FTCD):c.319T>C (p.Cys107Arg)
|
rs377359525
|
0.00033
|
NM_000081.4(LYST):c.8960C>G (p.Pro2987Arg)
|
rs147899661
|
0.00032
|
NM_000136.3(FANCC):c.-78-18T>G
|
rs560839822
|
0.00032
|
NM_001042492.3(NF1):c.1933A>G (p.Met645Val)
|
rs146051850
|
0.00032
|
NM_001081.4(CUBN):c.4376C>G (p.Ser1459Cys)
|
rs138022214
|
0.00032
|
NM_001081.4(CUBN):c.5424G>T (p.Val1808=)
|
rs148649437
|
0.00032
|
NM_003664.5(AP3B1):c.2188C>T (p.Arg730Trp)
|
rs141102178
|
0.00032
|
NM_007294.4(BRCA1):c.1036C>T (p.Pro346Ser)
|
rs80357015
|
0.00032
|
NM_020937.4(FANCM):c.269C>T (p.Pro90Leu)
|
rs142904668
|
0.00032
|
NM_021922.3(FANCE):c.1018G>C (p.Gly340Arg)
|
rs45524646
|
0.00032
|
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val)
|
rs79538375
|
0.00031
|
NM_000064.4(C3):c.1909G>C (p.Gly637Arg)
|
rs149850773
|
0.00031
|
NM_000081.4(LYST):c.6782G>A (p.Arg2261His)
|
rs147791378
|
0.00031
|
NM_000195.5(HPS1):c.15G>C (p.Leu5Phe)
|
rs146695034
|
0.00031
|
NM_000211.5(ITGB2):c.314T>C (p.Leu105Pro)
|
rs145851783
|
0.00031
|
NM_000313.4(PROS1):c.-135C>T
|
rs750502941
|
0.00031
|
NM_000313.4(PROS1):c.496A>C (p.Asn166His)
|
rs758625995
|
0.00031
|
NM_000342.4(SLC4A1):c.486-18C>T
|
rs201023917
|
0.00031
|
NM_000488.4(SERPINC1):c.1005G>A (p.Val335=)
|
rs192187532
|
0.00031
|
NM_000551.3(VHL):c.-73C>T
|
rs1034934219
|
0.00031
|
NM_001081.4(CUBN):c.3116A>G (p.Tyr1039Cys)
|
rs150014503
|
0.00031
|
NM_001081.4(CUBN):c.9705G>A (p.Thr3235=)
|
rs370784621
|
0.00031
|
NM_001113378.2(FANCI):c.406G>A (p.Ala136Thr)
|
rs139181400
|
0.00031
|
NM_001261826.3(AP3D1):c.3637G>A (p.Ala1213Thr)
|
rs201113371
|
0.00031
|
NM_002049.4(GATA1):c.174G>A (p.Ala58=)
|
rs139614533
|
0.00031
|
NM_002473.6(MYH9):c.2500-14A>G
|
rs199505086
|
0.00031
|
NM_004364.5(CEBPA):c.724G>A (p.Gly242Ser)
|
rs530569305
|
0.00031
|
NM_005957.5(MTHFR):c.203G>A (p.Arg68Gln)
|
rs2066472
|
0.00031
|
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys)
|
rs28897687
|
0.00031
|
NM_021871.4(FGA):c.1199C>T (p.Ser400Phe)
|
rs184635235
|
0.00031
|
NM_030943.4(AMN):c.909C>T (p.Ala303=)
|
rs373382273
|
0.00031
|
NM_032444.4(SLX4):c.2609C>T (p.Ala870Val)
|
rs149584080
|
0.00031
|
NM_032444.4(SLX4):c.3368C>A (p.Ser1123Tyr)
|
rs144647122
|
0.00031
|
NM_198253.3(TERT):c.1932G>A (p.Thr644=)
|
rs148582238
|
0.00031
|
NM_000135.4(FANCA):c.1225+12C>T
|
rs200672872
|
0.00030
|
NM_000135.4(FANCA):c.1716-20T>C
|
rs367726674
|
0.00030
|
NM_000195.5(HPS1):c.1796C>T (p.Thr599Met)
|
rs201076763
|
0.00030
|
NM_000969.5(RPL5):c.324+14G>T
|
rs200772479
|
0.00030
|
NM_001081.4(CUBN):c.4701C>T (p.Tyr1567=)
|
rs113941731
|
0.00030
|
NM_001081.4(CUBN):c.7971A>G (p.Pro2657=)
|
rs140160866
|
0.00030
|
NM_002834.5(PTPN11):c.643-6dup
|
rs758889732
|
0.00030
|
NM_015506.3(MMACHC):c.19G>A (p.Glu7Lys)
|
rs377405910
|
0.00030
|
NM_032444.4(SLX4):c.2585G>A (p.Arg862Gln)
|
rs143558209
|
0.00030
|
NM_000057.4(BLM):c.2115T>C (p.Val705=)
|
rs142787700
|
0.00029
|
NM_000081.4(LYST):c.2963G>A (p.Arg988Gln)
|
rs150953050
|
0.00029
|
NM_000135.4(FANCA):c.*144G>C
|
rs575606938
|
0.00029
|
NM_000135.4(FANCA):c.1340C>T (p.Ser447Leu)
|
rs149551759
|
0.00029
|
NM_000186.4(CFH):c.3172T>C (p.Tyr1058His)
|
rs55679475
|
0.00029
|
NM_000186.4(CFH):c.3178G>C (p.Val1060Leu)
|
rs55771831
|
0.00029
|
NM_000313.4(PROS1):c.-261C>T
|
rs886058930
|
0.00029
|
NM_000377.3(WAS):c.873C>T (p.Tyr291=)
|
rs149123892
|
0.00029
|
NM_000488.4(SERPINC1):c.-57G>A
|
rs372524963
|
0.00029
|
NM_001018115.3(FANCD2):c.2256T>A (p.Ile752=)
|
rs373461068
|
0.00029
|
NM_001018115.3(FANCD2):c.2803A>C (p.Ile935Leu)
|
rs61751578
|
0.00029
|
NM_002473.6(MYH9):c.3195C>A (p.Ala1065=)
|
rs148781875
|
0.00029
|
NM_003200.5(TCF3):c.1564A>C (p.Lys522Gln)
|
rs201831565
|
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_020937.4(FANCM):c.1597C>T (p.Arg533Cys)
|
rs146151355
|
0.00029
|
NM_022051.3(EGLN1):c.120C>T (p.Phe40=)
|
rs555121182
|
0.00029
|
NM_030943.4(AMN):c.1258-14C>G
|
rs767004707
|
0.00029
|
NM_000135.4(FANCA):c.801T>C (p.Val267=)
|
rs55660936
|
0.00028
|
NM_000377.3(WAS):c.1110A>C (p.Pro370=)
|
rs782244198
|
0.00028
|
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)
|
rs5030868
|
0.00028
|
NM_000546.5(TP53):c.319T>C (p.Tyr107His)
|
rs368771578
|
0.00028
|
NM_001014.5(RPS10):c.444C>T (p.Thr148=)
|
rs149897629
|
0.00028
|
NM_001022.4(RPS19):c.1-13C>T
|
rs200634600
|
0.00028
|
NM_005026.5(PIK3CD):c.598G>A (p.Glu200Lys)
|
rs141200414
|
0.00028
|
NM_005957.5(MTHFR):c.673A>G (p.Ile225Val)
|
rs200100285
|
0.00028
|
NM_021922.3(FANCE):c.31G>A (p.Ala11Thr)
|
rs753304968
|
0.00028
|
NM_000064.4(C3):c.3855C>T (p.Asp1285=)
|
rs142359391
|
0.00027
|
NM_000081.4(LYST):c.368A>G (p.His123Arg)
|
rs3768067
|
0.00027
|
NM_000301.5(PLG):c.1735G>A (p.Gly579Arg)
|
rs138728014
|
0.00027
|
NM_000407.5(GP1BB):c.143C>T (p.Ser48Leu)
|
rs536874549
|
0.00027
|
NM_001081.4(CUBN):c.3646C>G (p.Pro1216Ala)
|
rs145881708
|
0.00027
|
NM_001083116.3(PRF1):c.1070G>A (p.Arg357Gln)
|
rs140787739
|
0.00027
|
NM_002473.6(MYH9):c.4664A>G (p.Lys1555Arg)
|
rs141543499
|
0.00027
|
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser)
|
rs104895032
|
0.00027
|
NM_012452.3(TNFRSF13B):c.641T>C (p.Met214Thr)
|
rs144560464
|
0.00027
|
NM_020937.4(FANCM):c.4366C>T (p.Arg1456Cys)
|
rs200360968
|
0.00027
|
NM_000057.4(BLM):c.191A>T (p.Asp64Val)
|
rs140382474
|
0.00026
|
NM_000059.4(BRCA2):c.1395A>C (p.Val465=)
|
rs11571641
|
0.00026
|
NM_000064.4(C3):c.4635C>T (p.Tyr1545=)
|
rs189948635
|
0.00026
|
NM_000186.4(CFH):c.3079G>C (p.Ala1027Pro)
|
rs373385518
|
0.00026
|
NM_000518.5(HBB):c.118C>T (p.Gln40Ter)
|
rs11549407
|
0.00026
|
NM_000760.4(CSF3R):c.1640G>A (p.Trp547Ter)
|
rs138156467
|
0.00026
|
NM_001018115.3(FANCD2):c.1015G>A (p.Gly339Ser)
|
rs144332316
|
0.00026
|
NM_001018115.3(FANCD2):c.1766+16C>T
|
rs201040143
|
0.00026
|
NM_001081.4(CUBN):c.2932C>A (p.His978Asn)
|
rs369981313
|
0.00026
|
NM_001081.4(CUBN):c.6560C>T (p.Ser2187Leu)
|
rs143899993
|
0.00026
|
NM_001113378.2(FANCI):c.1822-18C>T
|
rs373603139
|
0.00026
|
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs)
|
rs80356491
|
0.00026
|
NM_002641.4(PIGA):c.525T>C (p.Leu175=)
|
rs61751426
|
0.00026
|
NM_006118.4(HAX1):c.91del (p.Glu31fs)
|
rs764082747
|
0.00026
|
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val)
|
rs28897675
|
0.00026
|
NM_020937.4(FANCM):c.163G>A (p.Asp55Asn)
|
rs148017562
|
0.00026
|
NM_020937.4(FANCM):c.3235A>T (p.Ser1079Cys)
|
rs146065064
|
0.00026
|
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp)
|
rs150624408
|
0.00026
|
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His)
|
rs56328701
|
0.00025
|
NM_000059.4(BRCA2):c.9876G>A (p.Pro3292=)
|
rs369047997
|
0.00025
|
NM_000096.4(CP):c.2158C>T (p.Arg720Trp)
|
rs145784949
|
0.00025
|
NM_000135.4(FANCA):c.399C>T (p.His133=)
|
rs56190097
|
0.00025
|
NM_000361.3(THBD):c.302G>C (p.Arg101Pro)
|
rs546519295
|
0.00025
|
NM_000975.5(RPL11):c.153C>T (p.Ser51=)
|
rs80133698
|
0.00025
|
NM_001018115.3(FANCD2):c.1143C>T (p.Asp381=)
|
rs376349741
|
0.00025
|
NM_001042492.3(NF1):c.61-19T>C
|
rs185325140
|
0.00025
|
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly)
|
rs144078282
|
0.00025
|
NM_004985.5(KRAS):c.24A>G (p.Val8=)
|
rs147406419
|
0.00025
|
NM_015506.3(MMACHC):c.126G>A (p.Pro42=)
|
rs201112314
|
0.00025
|
NM_020937.4(FANCM):c.1249G>C (p.Glu417Gln)
|
rs141729590
|
0.00025
|
NM_032444.4(SLX4):c.5212G>T (p.Gly1738Trp)
|
rs556217576
|
0.00025
|
NM_033022.4(RPS24):c.306C>T (p.Thr102=)
|
rs558975561
|
0.00025
|
NM_181507.2(HPS5):c.2525C>T (p.Pro842Leu)
|
rs149039105
|
0.00025
|
NM_000135.4(FANCA):c.41A>G (p.Asp14Gly)
|
rs762648754
|
0.00024
|
NM_000204.5(CFI):c.1216C>T (p.Arg406Cys)
|
rs181729783
|
0.00024
|
NM_000211.5(ITGB2):c.1697C>T (p.Pro566Leu)
|
rs373223342
|
0.00024
|
NM_000313.4(PROS1):c.*1103A>G
|
rs779418455
|
0.00024
|
NM_000313.4(PROS1):c.*155T>A
|
rs534064879
|
0.00024
|
NM_000969.5(RPL5):c.408T>C (p.Asp136=)
|
rs142297836
|
0.00024
|
NM_001018113.3(FANCB):c.1995C>T (p.Pro665=)
|
rs192743430
|
0.00024
|
NM_001018115.3(FANCD2):c.2872G>A (p.Val958Met)
|
rs372574627
|
0.00024
|
NM_001042492.3(NF1):c.369C>G (p.Thr123=)
|
rs146691765
|
0.00024
|
NM_001783.4(CD79A):c.134G>C (p.Ser45Thr)
|
rs199603062
|
0.00024
|
NM_020937.4(FANCM):c.4106A>T (p.Asn1369Ile)
|
rs148154311
|
0.00024
|
NM_022725.4(FANCF):c.573C>G (p.Ser191Arg)
|
rs146219377
|
0.00024
|
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala)
|
rs28903098
|
0.00024
|
NM_032444.4(SLX4):c.1394C>T (p.Pro465Leu)
|
rs372128800
|
0.00024
|
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn)
|
rs56087561
|
0.00023
|
NM_000342.4(SLC4A1):c.798T>C (p.Phe266=)
|
rs193011645
|
0.00023
|
NM_001018115.3(FANCD2):c.609T>C (p.Ala203=)
|
rs374019283
|
0.00023
|
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys)
|
rs28897676
|
0.00023
|
NM_024747.6(HPS6):c.2260C>G (p.Leu754Val)
|
rs202188533
|
0.00023
|
NM_181507.2(HPS5):c.2136T>A (p.Ser712Arg)
|
rs149564550
|
0.00023
|
NM_198253.3(TERT):c.1931C>T (p.Thr644Met)
|
rs201927653
|
0.00023
|
NM_000081.4(LYST):c.8214G>C (p.Glu2738Asp)
|
rs140944484
|
0.00022
|
NM_000135.4(FANCA):c.1871C>G (p.Ala624Gly)
|
rs146491000
|
0.00022
|
NM_000301.5(PLG):c.2134G>A (p.Gly712Arg)
|
rs202074006
|
0.00022
|
NM_001081.4(CUBN):c.7491G>A (p.Leu2497=)
|
rs189314395
|
0.00022
|
NM_001081.4(CUBN):c.8071G>A (p.Gly2691Arg)
|
rs1801237
|
0.00022
|
NM_001364905.1(LRBA):c.2275A>C (p.Met759Leu)
|
rs191118242
|
0.00022
|
NM_002473.6(MYH9):c.2085C>T (p.Asn695=)
|
rs375953430
|
0.00022
|
NM_004629.2(FANCG):c.1453C>T (p.Arg485Trp)
|
rs201884798
|
0.00022
|
NM_020207.7(ERCC6L2):c.1930C>T (p.Arg644Ter)
|
rs147948835
|
0.00022
|
NM_022725.4(FANCF):c.647G>C (p.Arg216Pro)
|
rs192534185
|
0.00022
|
NM_032444.4(SLX4):c.1065G>A (p.Gln355=)
|
rs200183071
|
0.00022
|
NM_000064.4(C3):c.4791G>A (p.Glu1597=)
|
rs149675330
|
0.00021
|
NM_000136.3(FANCC):c.456+4A>T
|
rs104886456
|
0.00021
|
NM_000289.6(PFKM):c.820A>G (p.Ile274Val)
|
rs142868881
|
0.00021
|
NM_000361.3(THBD):c.866A>T (p.Asn289Ile)
|
rs143748797
|
0.00021
|
NM_000488.4(SERPINC1):c.1265T>C (p.Ile422Thr)
|
rs772809607
|
0.00021
|
NM_000975.5(RPL11):c.397-4A>G
|
rs371228733
|
0.00021
|
NM_001018115.3(FANCD2):c.696-18T>G
|
rs56083801
|
0.00021
|
NM_001081.4(CUBN):c.4702G>A (p.Asp1568Asn)
|
rs533512333
|
0.00021
|
NM_001081.4(CUBN):c.813C>T (p.Pro271=)
|
rs139348777
|
0.00021
|
NM_001081.4(CUBN):c.9455-13T>C
|
rs374390875
|
0.00021
|
NM_002454.3(MTRR):c.505G>A (p.Val169Met)
|
rs147742177
|
0.00021
|
NM_004356.4(CD81):c.159C>T (p.Pro53=)
|
rs200365372
|
0.00021
|
NM_007294.4(BRCA1):c.571G>A (p.Val191Ile)
|
rs80357090
|
0.00021
|
NM_014915.3(ANKRD26):c.153C>G (p.His51Gln)
|
rs139049098
|
0.00021
|
NM_021922.3(FANCE):c.1316+10C>T
|
rs200479051
|
0.00021
|
NM_021922.3(FANCE):c.65T>C (p.Leu22Pro)
|
rs950301098
|
0.00021
|
NM_024675.4(PALB2):c.1281T>C (p.Ala427=)
|
rs138697796
|
0.00021
|
NM_000195.5(HPS1):c.118-19T>A
|
rs758750874
|
0.00020
|
NM_000377.3(WAS):c.1339-18G>A
|
rs370010448
|
0.00020
|
NM_001113378.2(FANCI):c.1699-3C>G
|
rs372441627
|
0.00020
|
NM_001972.4(ELANE):c.431G>A (p.Arg144His)
|
rs142441575
|
0.00020
|
NM_002473.6(MYH9):c.3255C>T (p.Leu1085=)
|
rs142427583
|
0.00020
|
NM_020937.4(FANCM):c.4627C>T (p.Leu1543Phe)
|
rs139536545
|
0.00020
|
NM_020937.4(FANCM):c.504G>C (p.Met168Ile)
|
rs376316183
|
0.00020
|
NM_020937.4(FANCM):c.5205G>A (p.Ser1735=)
|
rs138090463
|
0.00020
|
NM_022081.6(HPS4):c.834T>A (p.Asp278Glu)
|
rs139107954
|
0.00020
|
NM_024420.3(PLA2G4A):c.1962T>G (p.Gly654=)
|
rs12720691
|
0.00020
|
NM_024747.6(HPS6):c.1346C>G (p.Ser449Cys)
|
rs141068948
|
0.00020
|
NM_032444.4(SLX4):c.465A>G (p.Glu155=)
|
rs138512851
|
0.00020
|
NM_139027.6(ADAMTS13):c.1157G>A (p.Arg386His)
|
rs151048660
|
0.00020
|
NM_139027.6(ADAMTS13):c.2686G>A (p.Val896Met)
|
rs147732725
|
0.00020
|
NM_000064.4(C3):c.1650C>T (p.Ser550=)
|
rs138835619
|
0.00019
|
NM_000064.4(C3):c.1923C>T (p.Asp641=)
|
rs113044084
|
0.00019
|
NM_000064.4(C3):c.2354+19C>T
|
rs192942944
|
0.00019
|
NM_000096.4(CP):c.1217C>A (p.Ala406Glu)
|
rs147034302
|
0.00019
|
NM_000135.4(FANCA):c.157A>C (p.Ser53Arg)
|
rs61757383
|
0.00019
|
NM_000186.4(CFH):c.1198C>A (p.Gln400Lys)
|
rs201671665
|
0.00019
|
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys)
|
rs121913059
|
0.00019
|
NM_000204.5(CFI):c.1430-19G>A
|
rs377117137
|
0.00019
|
NM_000377.3(WAS):c.1191G>A (p.Pro397=)
|
rs782486251
|
0.00019
|
NM_000377.3(WAS):c.1280C>T (p.Pro427Leu)
|
rs782307200
|
0.00019
|
NM_001018113.3(FANCB):c.1720T>A (p.Cys574Ser)
|
rs200303151
|
0.00019
|
NM_001018115.3(FANCD2):c.122T>C (p.Val41Ala)
|
rs139025231
|
0.00019
|
NM_001081.4(CUBN):c.10038C>T (p.His3346=)
|
rs113079734
|
0.00019
|
NM_001081.4(CUBN):c.5428C>T (p.Arg1810Ter)
|
rs143944436
|
0.00019
|
NM_001081.4(CUBN):c.6020C>T (p.Thr2007Met)
|
rs140202552
|
0.00019
|
NM_001081.4(CUBN):c.6479A>G (p.Asp2160Gly)
|
rs144704318
|
0.00019
|
NM_001113378.2(FANCI):c.1399G>A (p.Val467Ile)
|
rs199726965
|
0.00019
|
NM_001113378.2(FANCI):c.2041A>C (p.Thr681Pro)
|
rs554876309
|
0.00019
|
NM_001113378.2(FANCI):c.3419C>T (p.Thr1140Ile)
|
rs142969866
|
0.00019
|
NM_001113378.2(FANCI):c.467G>A (p.Cys156Tyr)
|
rs112387610
|
0.00019
|
NM_001364905.1(LRBA):c.2067+11A>G
|
rs185860143
|
0.00019
|
NM_003200.5(TCF3):c.823-13C>T
|
rs148835727
|
0.00019
|
NM_007294.4(BRCA1):c.4484+14A>G
|
rs80358022
|
0.00019
|
NM_007294.4(BRCA1):c.827C>G (p.Thr276Arg)
|
rs80357436
|
0.00019
|
NM_018943.3(TUBA8):c.967G>A (p.Val323Met)
|
rs151102020
|
0.00019
|
NM_021922.3(FANCE):c.1591T>A (p.Leu531Met)
|
rs147390386
|
0.00019
|
NM_032043.3(BRIP1):c.380-5A>G
|
rs587782131
|
0.00019
|
NM_032444.4(SLX4):c.1389A>G (p.Lys463=)
|
rs376668879
|
0.00019
|
NM_032444.4(SLX4):c.1829A>G (p.Gln610Arg)
|
rs544935776
|
0.00019
|
NM_139027.6(ADAMTS13):c.2009G>A (p.Arg670His)
|
rs149953167
|
0.00019
|
NM_182916.3(TRNT1):c.383A>G (p.Asp128Gly)
|
rs148398677
|
0.00019
|
NM_000132.4(F8):c.396A>C (p.Glu132Asp)
|
rs137852388
|
0.00018
|
NM_000397.4(CYBB):c.1414G>A (p.Gly472Ser)
|
rs13306300
|
0.00018
|
NM_000969.5(RPL5):c.141C>T (p.Pro47=)
|
rs150375325
|
0.00018
|
NM_000987.5(RPL26):c.342C>T (p.Asp114=)
|
rs137965122
|
0.00018
|
NM_001081.4(CUBN):c.8084G>A (p.Gly2695Asp)
|
rs142667203
|
0.00018
|
NM_001113378.2(FANCI):c.3721G>A (p.Ala1241Thr)
|
rs140357734
|
0.00018
|
NM_001754.5(RUNX1):c.-59-10C>T
|
rs578080277
|
0.00018
|
NM_002485.5(NBN):c.1999T>C (p.Ser667Pro)
|
rs587780091
|
0.00018
|
NM_005373.3(MPL):c.79+2T>A
|
rs146249964
|
0.00018
|
NM_006118.4(HAX1):c.829C>T (p.Arg277Trp)
|
rs138296453
|
0.00018
|
NM_007294.4(BRCA1):c.5406+33A>T
|
rs80358092
|
0.00018
|
NM_017654.4(SAMD9):c.3403A>G (p.Ile1135Val)
|
rs376829052
|
0.00018
|
NM_018062.4(FANCL):c.142C>G (p.Leu48Val)
|
rs148516173
|
0.00018
|
NM_018062.4(FANCL):c.580A>G (p.Ile194Val)
|
rs542006141
|
0.00018
|
NM_030943.4(AMN):c.989C>A (p.Ala330Glu)
|
rs542237999
|
0.00018
|
NM_032444.4(SLX4):c.2079C>T (p.Val693=)
|
rs150206155
|
0.00018
|
NM_032444.4(SLX4):c.4545C>T (p.Asp1515=)
|
rs142851654
|
0.00018
|
NM_032444.4(SLX4):c.4580C>T (p.Pro1527Leu)
|
rs149362820
|
0.00018
|
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter)
|
rs200389141
|
0.00017
|
NM_000135.4(FANCA):c.874C>G (p.His292Asp)
|
rs200220791
|
0.00017
|
NM_000558.5(HBA1):c.96-1G>A
|
rs34883113
|
0.00017
|
NM_001081.4(CUBN):c.7000+15A>T
|
rs556690868
|
0.00017
|
NM_001261826.3(AP3D1):c.2001+6C>T
|
rs376715473
|
0.00017
|
NM_001710.6(CFB):c.2100C>T (p.Gly700=)
|
rs116928087
|
0.00017
|
NM_002473.6(MYH9):c.2808G>A (p.Ala936=)
|
rs200550959
|
0.00017
|
NM_002473.6(MYH9):c.5483+18C>T
|
rs376924627
|
0.00017
|
NM_002473.6(MYH9):c.705+15G>A
|
rs373901192
|
0.00017
|
NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp)
|
rs121918222
|
0.00017
|
NM_020937.4(FANCM):c.2809C>T (p.Leu937Phe)
|
rs138274490
|
0.00017
|
NM_020937.4(FANCM):c.5848T>G (p.Leu1950Val)
|
rs146436929
|
0.00017
|
NM_022725.4(FANCF):c.452A>T (p.Tyr151Phe)
|
rs952309844
|
0.00017
|
NM_024675.4(PALB2):c.2135C>T (p.Ala712Val)
|
rs141458731
|
0.00017
|
NM_032444.4(SLX4):c.537G>T (p.Glu179Asp)
|
rs758789462
|
0.00017
|
NM_032444.4(SLX4):c.5433C>T (p.Ala1811=)
|
rs142477564
|
0.00017
|
NM_000135.4(FANCA):c.2152-20T>A
|
rs200403206
|
0.00016
|
NM_000135.4(FANCA):c.2504+6C>G
|
rs749556479
|
0.00016
|
NM_000195.5(HPS1):c.1067A>C (p.Asn356Thr)
|
rs374389539
|
0.00016
|
NM_000301.5(PLG):c.317G>C (p.Gly106Ala)
|
rs778599053
|
0.00016
|
NM_000312.4(PROC):c.1212G>A (p.Gly404=)
|
rs370637632
|
0.00016
|
NM_001018115.3(FANCD2):c.1348A>G (p.Ile450Val)
|
rs145129959
|
0.00016
|
NM_001018115.3(FANCD2):c.2555C>G (p.Pro852Arg)
|
rs375827113
|
0.00016
|
NM_001018115.3(FANCD2):c.2715+1G>A
|
rs201811817
|
0.00016
|
NM_001018115.3(FANCD2):c.2801C>G (p.Ser934Cys)
|
rs200971205
|
0.00016
|
NM_001081.4(CUBN):c.1604A>G (p.Tyr535Cys)
|
rs139848689
|
0.00016
|
NM_001081.4(CUBN):c.2778T>G (p.Ser926Arg)
|
rs371127860
|
0.00016
|
NM_001081.4(CUBN):c.6039C>T (p.Pro2013=)
|
rs149569558
|
0.00016
|
NM_001081.4(CUBN):c.6260C>G (p.Ser2087Cys)
|
rs376641725
|
0.00016
|
NM_001113378.2(FANCI):c.1657C>A (p.Leu553Met)
|
rs374363189
|
0.00016
|
NM_001113378.2(FANCI):c.2543A>G (p.Gln848Arg)
|
rs555904350
|
0.00016
|
NM_001113378.2(FANCI):c.3051C>T (p.Asn1017=)
|
rs768378979
|
0.00016
|
NM_002473.6(MYH9):c.3246G>A (p.Glu1082=)
|
rs147961725
|
0.00016
|
NM_002473.6(MYH9):c.4556G>A (p.Ser1519Asn)
|
rs138193963
|
0.00016
|
NM_006563.5(KLF1):c.259C>G (p.Pro87Ala)
|
rs752204035
|
0.00016
|
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu)
|
rs80357201
|
0.00016
|
NM_018062.4(FANCL):c.97-11A>G
|
rs201875132
|
0.00016
|
NM_021922.3(FANCE):c.1069C>T (p.Leu357Phe)
|
rs185230199
|
0.00016
|
NM_032122.5(DTNBP1):c.512-16T>C
|
rs112527545
|
0.00016
|
NM_032444.4(SLX4):c.3940C>A (p.Gln1314Lys)
|
rs142040192
|
0.00016
|
NM_032444.4(SLX4):c.4649G>A (p.Arg1550Gln)
|
rs369852048
|
0.00016
|
NM_033022.4(RPS24):c.235C>T (p.Leu79=)
|
rs192994060
|
0.00016
|
NM_152564.5(VPS13B):c.10568A>G (p.Tyr3523Cys)
|
rs398124326
|
0.00016
|
NM_152564.5(VPS13B):c.2471C>T (p.Ser824Phe)
|
rs145419141
|
0.00016
|
NM_152564.5(VPS13B):c.5607G>A (p.Thr1869=)
|
rs368851580
|
0.00016
|
NM_000057.4(BLM):c.274A>G (p.Asn92Asp)
|
rs200690226
|
0.00015
|
NM_000204.5(CFI):c.1581C>T (p.Gly527=)
|
rs181378677
|
0.00015
|
NM_000626.4(CD79B):c.250G>A (p.Glu84Lys)
|
rs373082402
|
0.00015
|
NM_000631.5(NCF4):c.270A>T (p.Pro90=)
|
rs370754874
|
0.00015
|
NM_001018115.3(FANCD2):c.4206A>G (p.Gln1402=)
|
rs745841768
|
0.00015
|
NM_001018115.3(FANCD2):c.808T>G (p.Leu270Val)
|
rs138587722
|
0.00015
|
NM_001018115.3(FANCD2):c.888+9T>C
|
rs777620616
|
0.00015
|
NM_001081.4(CUBN):c.427A>C (p.Asn143His)
|
rs151018922
|
0.00015
|
NM_001081.4(CUBN):c.5130C>T (p.Ser1710=)
|
rs750798030
|
0.00015
|
NM_001083116.3(PRF1):c.674G>A (p.Arg225Gln)
|
rs140281371
|
0.00015
|
NM_001113378.2(FANCI):c.446-6T>G
|
rs377255054
|
0.00015
|
NM_001386140.1(MTTP):c.1301C>T (p.Thr434Ile)
|
rs1467372840
|
0.00015
|
NM_002473.6(MYH9):c.2295C>T (p.Ala765=)
|
rs150133983
|
0.00015
|
NM_003664.5(AP3B1):c.2239A>G (p.Lys747Glu)
|
rs201886263
|
0.00015
|
NM_005957.5(MTHFR):c.1720G>A (p.Val574Ile)
|
rs202153689
|
0.00015
|
NM_020937.4(FANCM):c.3992C>T (p.Pro1331Leu)
|
rs149348098
|
0.00015
|
NM_020937.4(FANCM):c.5284C>A (p.Pro1762Thr)
|
rs376197752
|
0.00015
|
NM_024675.4(PALB2):c.1794G>A (p.Leu598=)
|
rs182494675
|
0.00015
|
NM_032444.4(SLX4):c.5403G>C (p.Leu1801=)
|
rs577770118
|
0.00015
|
NM_181507.2(HPS5):c.1805G>A (p.Ser602Asn)
|
rs142793392
|
0.00015
|
NM_203447.4(DOCK8):c.1623C>G (p.His541Gln)
|
rs200201944
|
0.00015
|
NM_000057.4(BLM):c.842A>C (p.His281Pro)
|
rs202042636
|
0.00014
|
NM_000064.4(C3):c.1722G>A (p.Gln574=)
|
rs140143815
|
0.00014
|
NM_000064.4(C3):c.4667A>G (p.Asn1556Ser)
|
rs139381845
|
0.00014
|
NM_000135.4(FANCA):c.200C>A (p.Pro67Gln)
|
rs200698961
|
0.00014
|
NM_000186.4(CFH):c.472G>A (p.Val158Ile)
|
rs141852866
|
0.00014
|
NM_000204.5(CFI):c.772G>A (p.Ala258Thr)
|
rs199688124
|
0.00014
|
NM_000222.3(KIT):c.2502G>A (p.Lys834=)
|
rs146992614
|
0.00014
|
NM_000250.2(MPO):c.604G>T (p.Glu202Ter)
|
rs778013714
|
0.00014
|
NM_000301.5(PLG):c.36A>G (p.Leu12=)
|
rs371469289
|
0.00014
|
NM_000313.4(PROS1):c.1747A>C (p.Asn583His)
|
rs139479630
|
0.00014
|
NM_000546.6(TP53):c.672+18G>C
|
rs199578278
|
0.00014
|
NM_001018115.3(FANCD2):c.1933G>T (p.Asp645Tyr)
|
rs146496253
|
0.00014
|
NM_001018115.3(FANCD2):c.571-19A>T
|
rs141566218
|
0.00014
|
NM_001042492.3(NF1):c.3871-15C>T
|
rs200104394
|
0.00014
|
NM_001081.4(CUBN):c.1112-12A>G
|
rs762175932
|
0.00014
|
NM_001081.4(CUBN):c.1358C>A (p.Ser453Tyr)
|
rs368630481
|
0.00014
|
NM_001081.4(CUBN):c.1450A>G (p.Ser484Gly)
|
rs750735519
|
0.00014
|
NM_001081.4(CUBN):c.2922C>T (p.Phe974=)
|
rs201802902
|
0.00014
|
NM_001081.4(CUBN):c.8913C>T (p.Ser2971=)
|
rs370685424
|
0.00014
|
NM_001081.4(CUBN):c.9035C>T (p.Pro3012Leu)
|
rs143741363
|
0.00014
|
NM_001081.4(CUBN):c.9922T>C (p.Trp3308Arg)
|
rs752843169
|
0.00014
|
NM_001083116.3(PRF1):c.1262T>G (p.Phe421Cys)
|
rs200534908
|
0.00014
|
NM_001113378.2(FANCI):c.-10A>G
|
rs372076895
|
0.00014
|
NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys)
|
rs398123546
|
0.00014
|
NM_002485.5(NBN):c.456G>A (p.Met152Ile)
|
rs201816949
|
0.00014
|
NM_004629.2(FANCG):c.-1C>T
|
rs587777946
|
0.00014
|
NM_004629.2(FANCG):c.881G>A (p.Gly294Glu)
|
rs17880082
|
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_006206.6(PDGFRA):c.1135T>G (p.Leu379Val)
|
rs199827643
|
0.00014
|
NM_018062.4(FANCL):c.1021-6T>C
|
rs377052216
|
0.00014
|
NM_020937.4(FANCM):c.1741C>T (p.Arg581Cys)
|
rs202171930
|
0.00014
|
NM_020937.4(FANCM):c.291C>G (p.His97Gln)
|
rs369609574
|
0.00014
|
NM_020937.4(FANCM):c.4959G>A (p.Met1653Ile)
|
rs143152888
|
0.00014
|
NM_020937.4(FANCM):c.5341-19G>A
|
rs375732305
|
0.00014
|
NM_021922.3(FANCE):c.1141C>T (p.Arg381Cys)
|
rs371020401
|
0.00014
|
NM_022051.3(EGLN1):c.41G>A (p.Ser14Asn)
|
rs761497751
|
0.00014
|
NM_030943.4(AMN):c.603C>A (p.Gly201=)
|
rs535197788
|
0.00014
|
NM_032444.4(SLX4):c.832C>T (p.Arg278Trp)
|
rs141597706
|
0.00014
|
NM_058216.3(RAD51C):c.784T>G (p.Leu262Val)
|
rs149331537
|
0.00014
|
NM_152564.5(VPS13B):c.10612G>A (p.Gly3538Arg)
|
rs150767461
|
0.00014
|
NM_181507.2(HPS5):c.1020G>T (p.Leu340Phe)
|
rs149512871
|
0.00014
|
NM_212550.5(BLOC1S3):c.449A>G (p.Gln150Arg)
|
rs948696809
|
0.00014
|
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln)
|
rs755922289
|
0.00013
|
NM_000135.4(FANCA):c.3637C>G (p.Pro1213Ala)
|
rs200713354
|
0.00013
|
NM_000312.4(PROC):c.889G>C (p.Asp297His)
|
rs199469471
|
0.00013
|
NM_001014.5(RPS10):c.351C>T (p.Leu117=)
|
rs376353902
|
0.00013
|
NM_001018115.3(FANCD2):c.206-20C>A
|
rs200170760
|
0.00013
|
NM_001018115.3(FANCD2):c.2754A>G (p.Leu918=)
|
rs149395670
|
0.00013
|
NM_001081.4(CUBN):c.4639C>T (p.Arg1547Cys)
|
rs375920680
|
0.00013
|
NM_001081.4(CUBN):c.8680C>G (p.Pro2894Ala)
|
rs377159715
|
0.00013
|
NM_001164277.2(SLC37A4):c.148+20G>A
|
rs782050642
|
0.00013
|
NM_001375808.2(LPIN2):c.1514T>C (p.Ile505Thr)
|
rs146424724
|
0.00013
|
NM_002473.6(MYH9):c.5185G>T (p.Ala1729Ser)
|
rs140662138
|
0.00013
|
NM_002473.6(MYH9):c.928A>G (p.Ile310Val)
|
rs149789202
|
0.00013
|
NM_002834.5(PTPN11):c.1746C>T (p.Asn582=)
|
rs397516800
|
0.00013
|
NM_003200.5(TCF3):c.1948C>A (p.Pro650Thr)
|
rs7252811
|
0.00013
|
NM_003664.5(AP3B1):c.1720A>G (p.Thr574Ala)
|
rs141789572
|
0.00013
|
NM_004629.2(FANCG):c.1367A>T (p.His456Leu)
|
rs148808709
|
0.00013
|
NM_006363.6(SEC23B):c.649C>T (p.Arg217Ter)
|
rs121918226
|
0.00013
|
NM_015506.3(MMACHC):c.584G>C (p.Gly195Ala)
|
rs754862915
|
0.00013
|
NM_020937.4(FANCM):c.2473A>C (p.Ser825Arg)
|
rs547223696
|
0.00013
|
NM_020937.4(FANCM):c.4187C>T (p.Pro1396Leu)
|
rs762637141
|
0.00013
|
NM_021922.3(FANCE):c.-100C>T
|
rs374493565
|
0.00013
|
NM_021922.3(FANCE):c.653A>G (p.Lys218Arg)
|
rs148638909
|
0.00013
|
NM_032043.3(BRIP1):c.3099T>C (p.Pro1033=)
|
rs202228407
|
0.00013
|
NM_152564.5(VPS13B):c.3017C>G (p.Ala1006Gly)
|
rs201566948
|
0.00013
|
NM_198253.3(TERT):c.2383-15C>T
|
rs574645600
|
0.00013
|
NM_000135.4(FANCA):c.1776+11G>A
|
rs377308050
|
0.00012
|
NM_000135.4(FANCA):c.2266C>T (p.Arg756Cys)
|
rs556748657
|
0.00012
|
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter)
|
rs761341952
|
0.00012
|
NM_000195.5(HPS1):c.1409C>T (p.Ala470Val)
|
rs768146409
|
0.00012
|
NM_000204.5(CFI):c.338G>A (p.Ser113Asn)
|
rs150610189
|
0.00012
|
NM_000250.2(MPO):c.249-2A>G
|
rs762526880
|
0.00012
|
NM_000313.4(PROS1):c.1553C>T (p.Thr518Met)
|
rs373336653
|
0.00012
|
NM_000402.4(G6PD):c.1478G>A (p.Arg493His)
|
rs72554664
|
0.00012
|
NM_001042492.3(NF1):c.5322G>A (p.Gly1774=)
|
rs201584313
|
0.00012
|
NM_001081.4(CUBN):c.2738G>C (p.Ser913Thr)
|
rs201589187
|
0.00012
|
NM_001085487.3(MYSM1):c.2031+8A>G
|
rs201679870
|
0.00012
|
NM_001113378.2(FANCI):c.3473G>T (p.Cys1158Phe)
|
rs199502679
|
0.00012
|
NM_001113378.2(FANCI):c.3868A>G (p.Lys1290Glu)
|
rs374908061
|
0.00012
|
NM_001364905.1(LRBA):c.5941C>T (p.Arg1981Cys)
|
rs148699393
|
0.00012
|
NM_002454.3(MTRR):c.973C>A (p.Gln325Lys)
|
rs138098668
|
0.00012
|
NM_002473.6(MYH9):c.1212G>A (p.Ala404=)
|
rs148832136
|
0.00012
|
NM_002473.6(MYH9):c.504A>G (p.Gln168=)
|
rs760974197
|
0.00012
|
NM_002473.6(MYH9):c.5593-4G>A
|
rs369769391
|
0.00012
|
NM_003200.5(TCF3):c.1430G>A (p.Arg477Gln)
|
rs199957863
|
0.00012
|
NM_005026.5(PIK3CD):c.1513G>A (p.Glu505Lys)
|
rs545136223
|
0.00012
|
NM_005236.3(ERCC4):c.2186T>C (p.Ile729Thr)
|
rs375860375
|
0.00012
|
NM_020937.4(FANCM):c.5832G>T (p.Leu1944Phe)
|
rs201017015
|
0.00012
|
NM_020937.4(FANCM):c.934G>A (p.Ala312Thr)
|
rs189856413
|
0.00012
|
NM_030773.4(TUBB1):c.965C>T (p.Ser322Phe)
|
rs147941536
|
0.00012
|
NM_032444.4(SLX4):c.398C>T (p.Pro133Leu)
|
rs373586019
|
0.00012
|
NM_058216.3(RAD51C):c.200A>G (p.Glu67Gly)
|
rs375451955
|
0.00012
|
NM_152564.5(VPS13B):c.9131A>C (p.Glu3044Ala)
|
rs376652526
|
0.00012
|
NM_206965.2(FTCD):c.593G>A (p.Arg198His)
|
rs142358848
|
0.00012
|
NM_000064.4(C3):c.1027C>T (p.Arg343Cys)
|
rs772505177
|
0.00011
|
NM_000064.4(C3):c.1273C>T (p.Arg425Cys)
|
rs200967589
|
0.00011
|
NM_000064.4(C3):c.1480-10G>A
|
rs200390075
|
0.00011
|
NM_000064.4(C3):c.2047+7G>A
|
rs770932217
|
0.00011
|
NM_000064.4(C3):c.2204G>A (p.Arg735Gln)
|
rs201285239
|
0.00011
|
NM_000064.4(C3):c.2991G>A (p.Ala997=)
|
rs150763358
|
0.00011
|
NM_000064.4(C3):c.420C>A (p.Thr140=)
|
rs182399298
|
0.00011
|
NM_000081.4(LYST):c.3311G>A (p.Arg1104Gln)
|
rs148299757
|
0.00011
|
NM_000135.4(FANCA):c.1471-20G>A
|
rs374579239
|
0.00011
|
NM_000135.4(FANCA):c.1683G>A (p.Thr561=)
|
rs143451067
|
0.00011
|
NM_000135.4(FANCA):c.2029G>A (p.Val677Met)
|
rs767396631
|
0.00011
|
NM_000136.3(FANCC):c.1534-9T>C
|
rs536836859
|
0.00011
|
NM_000136.3(FANCC):c.250+16G>A
|
rs371993188
|
0.00011
|
NM_000136.3(FANCC):c.553C>T (p.Arg185Ter)
|
rs121917783
|
0.00011
|
NM_000186.4(CFH):c.2488C>T (p.Arg830Trp)
|
rs62641696
|
0.00011
|
NM_000186.4(CFH):c.476G>A (p.Ser159Asn)
|
rs370640334
|
0.00011
|
NM_000312.4(PROC):c.1234G>A (p.Gly412Ser)
|
rs139741458
|
0.00011
|
NM_000312.4(PROC):c.927C>T (p.Ala309=)
|
rs200731614
|
0.00011
|
NM_000313.4(PROS1):c.293C>G (p.Thr98Ser)
|
rs142805170
|
0.00011
|
NM_000552.5(VWF):c.3365C>T (p.Thr1122Met)
|
rs183119284
|
0.00011
|
NM_001018115.3(FANCD2):c.4281+81G>A
|
rs145889419
|
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_001081.4(CUBN):c.5148C>T (p.Phe1716=)
|
rs370581324
|
0.00011
|
NM_001081.4(CUBN):c.6661G>A (p.Val2221Ile)
|
rs143291127
|
0.00011
|
NM_001081.4(CUBN):c.8021G>A (p.Arg2674His)
|
rs184746130
|
0.00011
|
NM_001364905.1(LRBA):c.4947T>A (p.Asn1649Lys)
|
rs200578734
|
0.00011
|
NM_001972.4(ELANE):c.217G>A (p.Ala73Thr)
|
rs201421847
|
0.00011
|
NM_002473.6(MYH9):c.3701A>G (p.Lys1234Arg)
|
rs544801273
|
0.00011
|
NM_002485.5(NBN):c.505C>T (p.Arg169Cys)
|
rs182756889
|
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_003998.4(NFKB1):c.1126G>A (p.Gly376Ser)
|
rs150233754
|
0.00011
|
NM_004364.5(CEBPA):c.709C>A (p.Pro237Thr)
|
rs921077083
|
0.00011
|
NM_005476.7(GNE):c.1892C>T (p.Ala631Val)
|
rs62541771
|
0.00011
|
NM_005957.5(MTHFR):c.459C>G (p.Ile153Met)
|
rs767890671
|
0.00011
|
NM_006206.6(PDGFRA):c.2965A>G (p.Ile989Val)
|
rs145019788
|
0.00011
|
NM_006947.4(SRP72):c.622C>T (p.Arg208Cys)
|
rs375436807
|
0.00011
|
NM_006947.4(SRP72):c.623G>A (p.Arg208His)
|
rs369761160
|
0.00011
|
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys)
|
rs41286300
|
0.00011
|
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter)
|
rs121918242
|
0.00011
|
NM_015506.3(MMACHC):c.783G>A (p.Gly261=)
|
rs776623221
|
0.00011
|
NM_018062.4(FANCL):c.706A>G (p.Ile236Val)
|
rs762904548
|
0.00011
|
NM_018389.5(SLC35C1):c.1055C>A (p.Pro352His)
|
rs200843978
|
0.00011
|
NM_019594.4(LRRC8A):c.33G>A (p.Ala11=)
|
rs202218761
|
0.00011
|
NM_020937.4(FANCM):c.53G>A (p.Arg18Gln)
|
rs146609069
|
0.00011
|
NM_022455.5(NSD1):c.1478C>T (p.Pro493Leu)
|
rs140583358
|
0.00011
|
NM_024675.4(PALB2):c.1455T>G (p.Thr485=)
|
rs566105533
|
0.00011
|
NM_030943.4(AMN):c.93C>T (p.Asp31=)
|
rs772599857
|
0.00011
|
NM_032444.4(SLX4):c.2241C>T (p.Ala747=)
|
rs143790956
|
0.00011
|
NM_032444.4(SLX4):c.2335G>A (p.Val779Met)
|
rs768126392
|
0.00011
|
NM_032444.4(SLX4):c.2437G>A (p.Glu813Lys)
|
rs770020510
|
0.00011
|
NM_032444.4(SLX4):c.4903A>G (p.Lys1635Glu)
|
rs140417509
|
0.00011
|
NM_032977.4(CASP10):c.922+5G>A
|
rs559244194
|
0.00011
|
NM_033360.4(KRAS):c.90C>T (p.Asp30=)
|
rs113623140
|
0.00011
|
NM_152564.5(VPS13B):c.2880A>T (p.Leu960Phe)
|
rs760792770
|
0.00011
|
NM_152564.5(VPS13B):c.4829A>G (p.Asn1610Ser)
|
rs201587931
|
0.00011
|
NM_181523.3(PIK3R1):c.716C>T (p.Thr239Met)
|
rs141981005
|
0.00011
|
NM_198253.3(TERT):c.2079C>T (p.Phe693=)
|
rs371759577
|
0.00011
|
NM_206937.2(LIG4):c.1705A>G (p.Met569Val)
|
rs774699419
|
0.00011
|
NM_000057.4(BLM):c.3991A>G (p.Arg1331Gly)
|
rs150631940
|
0.00010
|
NM_000081.4(LYST):c.8779A>T (p.Ile2927Phe)
|
rs554841002
|
0.00010
|
NM_000096.4(CP):c.1927G>A (p.Val643Met)
|
rs143775161
|
0.00010
|
NM_000096.4(CP):c.929G>A (p.Arg310His)
|
rs202217551
|
0.00010
|
NM_000135.4(FANCA):c.1755C>G (p.Pro585=)
|
rs144704750
|
0.00010
|
NM_000135.4(FANCA):c.2089G>A (p.Val697Ile)
|
rs376888740
|
0.00010
|
NM_000136.3(FANCC):c.1259C>T (p.Thr420Met)
|
rs779261511
|
0.00010
|
NM_000173.7(GP1BA):c.1761A>C (p.Gln587His)
|
rs570515282
|
0.00010
|
NM_000186.4(CFH):c.2461C>T (p.His821Tyr)
|
rs367687415
|
0.00010
|
NM_000186.4(CFH):c.332T>A (p.Val111Glu)
|
rs576819823
|
0.00010
|
NM_000195.5(HPS1):c.507+15C>T
|
rs374761960
|
0.00010
|
NM_000204.5(CFI):c.705T>C (p.Ile235=)
|
rs373891906
|
0.00010
|
NM_000301.5(PLG):c.1468C>A (p.Arg490=)
|
rs367707054
|
0.00010
|
NM_000301.5(PLG):c.1997T>C (p.Ile666Thr)
|
rs764647453
|
0.00010
|
NM_000312.4(PROC):c.113G>A (p.Arg38Gln)
|
rs773107370
|
0.00010
|
NM_000361.3(THBD):c.1700G>A (p.Arg567Gln)
|
rs368774068
|
0.00010
|
NM_000377.3(WAS):c.559+3G>A
|
rs782645822
|
0.00010
|
NM_000398.7(CYB5R3):c.575G>A (p.Arg192His)
|
rs200581263
|
0.00010
|
NM_000402.4(G6PD):c.961G>A (p.Val321Met)
|
rs137852327
|
0.00010
|
NM_000987.5(RPL26):c.96C>T (p.Ser32=)
|
rs755369380
|
0.00010
|
NM_001011.4(RPS7):c.102G>A (p.Ser34=)
|
rs754617897
|
0.00010
|
NM_001018113.3(FANCB):c.504C>G (p.Ser168=)
|
rs373738816
|
0.00010
|
NM_001042492.3(NF1):c.2541T>C (p.Leu847=)
|
rs147433258
|
0.00010
|
NM_001081.4(CUBN):c.516C>T (p.Asn172=)
|
rs576450214
|
0.00010
|
NM_001081.4(CUBN):c.5323C>T (p.Arg1775Trp)
|
rs1276708
|
0.00010
|
NM_001113378.2(FANCI):c.1810A>G (p.Met604Val)
|
rs141879625
|
0.00010
|
NM_001113378.2(FANCI):c.712A>G (p.Ser238Gly)
|
rs112932178
|
0.00010
|
NM_001164277.2(SLC37A4):c.956G>A (p.Arg319Gln)
|
rs782703235
|
0.00010
|
NM_001258392.3(CLPB):c.748C>G (p.Arg250Gly)
|
rs146762466
|
0.00010
|
NM_002473.6(MYH9):c.1012+20A>G
|
rs748163536
|
0.00010
|
NM_002473.6(MYH9):c.2115C>T (p.Arg705=)
|
rs372243275
|
0.00010
|
NM_002485.5(NBN):c.-2C>T
|
rs202104448
|
0.00010
|
NM_004629.2(FANCG):c.1454G>A (p.Arg485Gln)
|
rs77152961
|
0.00010
|
NM_004629.2(FANCG):c.729T>C (p.Pro243=)
|
rs199736443
|
0.00010
|
NM_012452.3(TNFRSF13B):c.706G>T (p.Glu236Ter)
|
rs201021960
|
0.00010
|
NM_015506.3(MMACHC):c.641G>A (p.Arg214His)
|
rs202189863
|
0.00010
|
NM_018062.4(FANCL):c.246C>G (p.Ser82Arg)
|
rs374675609
|
0.00010
|
NM_018062.4(FANCL):c.649G>C (p.Glu217Gln)
|
rs142110072
|
0.00010
|
NM_021922.3(FANCE):c.559G>A (p.Glu187Lys)
|
rs142746353
|
0.00010
|
NM_021922.3(FANCE):c.59C>T (p.Ala20Val)
|
rs927154227
|
0.00010
|
NM_022725.4(FANCF):c.1087C>T (p.Gln363Ter)
|
rs201285915
|
0.00010
|
NM_024598.4(USB1):c.387G>C (p.Leu129=)
|
rs542658449
|
0.00010
|
NM_024675.4(PALB2):c.11C>T (p.Pro4Leu)
|
rs45619737
|
0.00010
|
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)
|
rs137852986
|
0.00010
|
NM_032444.4(SLX4):c.1563T>C (p.Pro521=)
|
rs146360238
|
0.00010
|
NM_032444.4(SLX4):c.1602C>T (p.Ser534=)
|
rs201754095
|
0.00010
|
NM_032444.4(SLX4):c.4333C>T (p.Arg1445Trp)
|
rs777967898
|
0.00010
|
NM_058216.3(RAD51C):c.431T>C (p.Ile144Thr)
|
rs28363307
|
0.00010
|
NM_152564.5(VPS13B):c.6657+1G>A
|
rs180177366
|
0.00010
|
NM_203447.4(DOCK8):c.476C>T (p.Pro159Leu)
|
rs537605467
|
0.00010
|
NM_000057.4(BLM):c.1933C>T (p.Gln645Ter)
|
rs373525781
|
0.00009
|
NM_000059.4(BRCA2):c.4656T>C (p.Gly1552=)
|
rs41293491
|
0.00009
|
NM_000059.4(BRCA2):c.7865A>G (p.Asn2622Ser)
|
rs142899125
|
0.00009
|
NM_000064.4(C3):c.1686G>A (p.Ser562=)
|
rs143750180
|
0.00009
|
NM_000064.4(C3):c.216G>A (p.Glu72=)
|
rs375940408
|
0.00009
|
NM_000064.4(C3):c.3655C>T (p.Arg1219Cys)
|
rs373102036
|
0.00009
|
NM_000064.4(C3):c.987C>T (p.Thr329=)
|
rs748313429
|
0.00009
|
NM_000132.4(F8):c.6089G>A (p.Ser2030Asn)
|
rs369414658
|
0.00009
|
NM_000135.4(FANCA):c.1776+13C>T
|
rs371272310
|
0.00009
|
NM_000135.4(FANCA):c.1900+7T>A
|
rs377401016
|
0.00009
|
NM_000135.4(FANCA):c.2276C>T (p.Pro759Leu)
|
rs373147908
|
0.00009
|
NM_000135.4(FANCA):c.2309G>A (p.Arg770His)
|
rs145552439
|
0.00009
|
NM_000135.4(FANCA):c.2662G>A (p.Val888Ile)
|
rs774863156
|
0.00009
|
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala)
|
rs574034197
|
0.00009
|
NM_000135.4(FANCA):c.3810G>A (p.Ser1270=)
|
rs138144828
|
0.00009
|
NM_000135.4(FANCA):c.4225C>T (p.Arg1409Trp)
|
rs139478274
|
0.00009
|
NM_000136.3(FANCC):c.251-20T>C
|
rs370867462
|
0.00009
|
NM_000136.3(FANCC):c.554G>A (p.Arg185Gln)
|
rs370346767
|
0.00009
|
NM_000136.3(FANCC):c.745A>G (p.Ser249Gly)
|
rs539583288
|
0.00009
|
NM_000186.4(CFH):c.3045T>C (p.Thr1015=)
|
rs147864267
|
0.00009
|
NM_000186.4(CFH):c.3318A>G (p.Thr1106=)
|
rs1137971
|
0.00009
|
NM_000195.5(HPS1):c.1448G>A (p.Arg483Gln)
|
rs199996900
|
0.00009
|
NM_000195.5(HPS1):c.1766C>T (p.Ala589Val)
|
rs528827909
|
0.00009
|
NM_000195.5(HPS1):c.1951C>T (p.Arg651Cys)
|
rs375322422
|
0.00009
|
NM_000204.5(CFI):c.454G>A (p.Val152Met)
|
rs367677199
|
0.00009
|
NM_000301.5(PLG):c.2087G>A (p.Arg696Gln)
|
rs147930532
|
0.00009
|
NM_000301.5(PLG):c.505C>A (p.Pro169Thr)
|
rs143256245
|
0.00009
|
NM_000313.4(PROS1):c.1331C>T (p.Pro444Leu)
|
rs369244777
|
0.00009
|
NM_000342.4(SLC4A1):c.1759A>T (p.Met587Leu)
|
rs201228206
|
0.00009
|
NM_000342.4(SLC4A1):c.2057C>T (p.Thr686Met)
|
rs143131877
|
0.00009
|
NM_000377.3(WAS):c.803G>A (p.Arg268Gln)
|
rs376560886
|
0.00009
|
NM_000518.5(HBB):c.93-21G>A
|
rs35004220
|
0.00009
|
NM_000546.6(TP53):c.847C>T (p.Arg283Cys)
|
rs149633775
|
0.00009
|
NM_000558.5(HBA1):c.237del (p.Asn79fs)
|
rs767911847
|
0.00009
|
NM_001018115.3(FANCD2):c.28T>C (p.Ser10Pro)
|
rs150075366
|
0.00009
|
NM_001018115.3(FANCD2):c.3165C>T (p.Tyr1055=)
|
rs375929975
|
0.00009
|
NM_001029.5(RPS26):c.312G>A (p.Ala104=)
|
rs145976784
|
0.00009
|
NM_001042492.3(NF1):c.5513C>G (p.Ser1838Cys)
|
rs368654378
|
0.00009
|
NM_001081.4(CUBN):c.10351G>A (p.Asp3451Asn)
|
rs145661638
|
0.00009
|
NM_001081.4(CUBN):c.10736C>T (p.Ser3579Phe)
|
rs754645310
|
0.00009
|
NM_001081.4(CUBN):c.2961C>T (p.Asn987=)
|
rs148712017
|
0.00009
|
NM_001081.4(CUBN):c.536G>T (p.Gly179Val)
|
rs370373276
|
0.00009
|
NM_001081.4(CUBN):c.614C>T (p.Thr205Met)
|
rs374652141
|
0.00009
|
NM_001081.4(CUBN):c.8825A>G (p.Asn2942Ser)
|
rs766855509
|
0.00009
|
NM_001081.4(CUBN):c.9139A>G (p.Ile3047Val)
|
rs376118603
|
0.00009
|
NM_001083116.3(PRF1):c.529C>T (p.Arg177Cys)
|
rs201468340
|
0.00009
|
NM_001113378.2(FANCI):c.165C>T (p.Pro55=)
|
rs139039885
|
0.00009
|
NM_001113378.2(FANCI):c.1900T>A (p.Phe634Ile)
|
rs140965103
|
0.00009
|
NM_001113378.2(FANCI):c.2071G>A (p.Glu691Lys)
|
rs144419129
|
0.00009
|
NM_001113378.2(FANCI):c.3706G>A (p.Val1236Ile)
|
rs377165815
|
0.00009
|
NM_001164277.2(SLC37A4):c.230G>T (p.Arg77Leu)
|
rs370839177
|
0.00009
|
NM_002473.6(MYH9):c.4008C>T (p.Asp1336=)
|
rs373378393
|
0.00009
|
NM_002693.3(POLG):c.*44G>C
|
rs563185483
|
0.00009
|
NM_005026.5(PIK3CD):c.2997+10G>A
|
rs377699493
|
0.00009
|
NM_005236.3(ERCC4):c.1676G>A (p.Gly559Asp)
|
rs370896187
|
0.00009
|
NM_005236.3(ERCC4):c.703G>A (p.Ala235Thr)
|
rs141101671
|
0.00009
|
NM_005373.3(MPL):c.313T>C (p.Phe105Leu)
|
rs145313814
|
0.00009
|
NM_015506.3(MMACHC):c.462T>C (p.Phe154=)
|
rs199747998
|
0.00009
|
NM_015506.3(MMACHC):c.650A>T (p.Glu217Val)
|
rs199641732
|
0.00009
|
NM_015506.3(MMACHC):c.699A>G (p.Leu233=)
|
rs377439596
|
0.00009
|
NM_018062.4(FANCL):c.-3G>C
|
rs766104531
|
0.00009
|
NM_020937.4(FANCM):c.1668T>C (p.Asp556=)
|
rs142380037
|
0.00009
|
NM_020937.4(FANCM):c.4523C>G (p.Ala1508Gly)
|
rs561723791
|
0.00009
|
NM_020937.4(FANCM):c.4986G>T (p.Lys1662Asn)
|
rs151273573
|
0.00009
|
NM_020937.4(FANCM):c.547A>C (p.Ser183Arg)
|
rs368937236
|
0.00009
|
NM_020937.4(FANCM):c.775A>G (p.Ile259Val)
|
rs150256536
|
0.00009
|
NM_021871.4(FGA):c.510+1G>T
|
rs146387238
|
0.00009
|
NM_021922.3(FANCE):c.1588G>A (p.Ala530Thr)
|
rs377415237
|
0.00009
|
NM_021922.3(FANCE):c.52C>T (p.Pro18Ser)
|
rs552241929
|
0.00009
|
NM_022725.4(FANCF):c.860A>G (p.Tyr287Cys)
|
rs750623273
|
0.00009
|
NM_024675.4(PALB2):c.3251C>T (p.Ser1084Leu)
|
rs62625271
|
0.00009
|
NM_024747.6(HPS6):c.692C>G (p.Pro231Arg)
|
rs754025975
|
0.00009
|
NM_030943.4(AMN):c.1123G>C (p.Val375Leu)
|
rs759831593
|
0.00009
|
NM_032444.4(SLX4):c.1223G>A (p.Arg408Gln)
|
rs377135500
|
0.00009
|
NM_032444.4(SLX4):c.1641G>A (p.Thr547=)
|
rs200497436
|
0.00009
|
NM_032444.4(SLX4):c.2006G>A (p.Arg669His)
|
rs200807331
|
0.00009
|
NM_032444.4(SLX4):c.4409C>T (p.Pro1470Leu)
|
rs72778139
|
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_139027.6(ADAMTS13):c.2915G>A (p.Arg972Gln)
|
rs139951127
|
0.00009
|
NM_139027.6(ADAMTS13):c.3317C>T (p.Ala1106Val)
|
rs370060687
|
0.00009
|
NM_152564.5(VPS13B):c.10868-7G>A
|
rs376141593
|
0.00009
|
NM_152564.5(VPS13B):c.8059A>G (p.Ile2687Val)
|
rs369100428
|
0.00009
|
NM_152703.5(SAMD9L):c.2114A>G (p.Tyr705Cys)
|
rs144236612
|
0.00009
|
NM_183235.3(RAB27A):c.543A>G (p.Ile181Met)
|
rs139025012
|
0.00009
|
NM_198253.3(TERT):c.3268G>A (p.Val1090Met)
|
rs121918664
|
0.00009
|
NM_203447.4(DOCK8):c.3031C>T (p.Arg1011Cys)
|
rs535305490
|
0.00009
|
NM_000059.4(BRCA2):c.9501+3A>T
|
rs61757642
|
0.00008
|
NM_000135.4(FANCA):c.2072A>G (p.Asn691Ser)
|
rs367880372
|
0.00008
|
NM_000135.4(FANCA):c.3069G>T (p.Glu1023Asp)
|
rs373986283
|
0.00008
|
NM_000135.4(FANCA):c.3644C>A (p.Ala1215Asp)
|
rs199601218
|
0.00008
|
NM_000135.4(FANCA):c.679C>G (p.His227Asp)
|
rs142580507
|
0.00008
|
NM_000135.4(FANCA):c.869C>A (p.Ser290Tyr)
|
rs185984960
|
0.00008
|
NM_000136.3(FANCC):c.1533+13G>A
|
rs200515307
|
0.00008
|
NM_000204.5(CFI):c.1709G>C (p.Ser570Thr)
|
rs200973120
|
0.00008
|
NM_000204.5(CFI):c.193T>C (p.Tyr65His)
|
rs774783110
|
0.00008
|
NM_000301.5(PLG):c.115A>C (p.Lys39Gln)
|
rs138353396
|
0.00008
|
NM_000342.4(SLC4A1):c.1800+12C>T
|
rs556266412
|
0.00008
|
NM_000402.4(G6PD):c.185A>G (p.His62Arg)
|
rs137852340
|
0.00008
|
NM_000969.5(RPL5):c.418G>A (p.Gly140Ser)
|
rs121434406
|
0.00008
|
NM_001014.5(RPS10):c.261G>A (p.Pro87=)
|
rs781484971
|
0.00008
|
NM_001018113.3(FANCB):c.330A>C (p.Leu110=)
|
rs201633684
|
0.00008
|
NM_001018115.3(FANCD2):c.1279-2A>G
|
rs748006255
|
0.00008
|
NM_001018115.3(FANCD2):c.4281+37G>A
|
rs376442380
|
0.00008
|
NM_001018115.3(FANCD2):c.439-18C>A
|
rs184060118
|
0.00008
|
NM_001022.4(RPS19):c.333A>G (p.Lys111=)
|
rs781845960
|
0.00008
|
NM_001029.5(RPS26):c.63T>A (p.Ile21=)
|
rs148167449
|
0.00008
|
NM_001042492.3(NF1):c.8105A>T (p.Tyr2702Phe)
|
rs201824349
|
0.00008
|
NM_001081.4(CUBN):c.10576G>A (p.Gly3526Ser)
|
rs200330356
|
0.00008
|
NM_001081.4(CUBN):c.10838G>A (p.Arg3613His)
|
rs148626202
|
0.00008
|
NM_001081.4(CUBN):c.1234A>G (p.Thr412Ala)
|
rs748933632
|
0.00008
|
NM_001081.4(CUBN):c.4216G>A (p.Gly1406Arg)
|
rs771763775
|
0.00008
|
NM_001081.4(CUBN):c.6613G>A (p.Gly2205Arg)
|
rs140883483
|
0.00008
|
NM_001113378.2(FANCI):c.669+14A>G
|
rs369804967
|
0.00008
|
NM_001113378.2(FANCI):c.850G>A (p.Glu284Lys)
|
rs368711186
|
0.00008
|
NM_002473.6(MYH9):c.4558-11C>G
|
rs200820677
|
0.00008
|
NM_005188.4(CBL):c.2349C>T (p.Ala783=)
|
rs552509693
|
0.00008
|
NM_007294.4(BRCA1):c.3649T>C (p.Ser1217Pro)
|
rs273900712
|
0.00008
|
NM_018062.4(FANCL):c.238C>G (p.Leu80Val)
|
rs563513081
|
0.00008
|
NM_019616.4(F7):c.413A>G (p.Gln138Arg)
|
rs200016360
|
0.00008
|
NM_020937.4(FANCM):c.3735A>T (p.Ile1245=)
|
rs574509639
|
0.00008
|
NM_020937.4(FANCM):c.4222+18dup
|
rs760075544
|
0.00008
|
NM_020937.4(FANCM):c.4352A>G (p.His1451Arg)
|
rs572890751
|
0.00008
|
NM_020937.4(FANCM):c.5177C>T (p.Pro1726Leu)
|
rs750384175
|
0.00008
|
NM_021922.3(FANCE):c.1238-10C>T
|
rs765940689
|
0.00008
|
NM_024675.4(PALB2):c.2128A>G (p.Thr710Ala)
|
rs730881887
|
0.00008
|
NM_024675.4(PALB2):c.2201C>A (p.Thr734Asn)
|
rs878855107
|
0.00008
|
NM_024675.4(PALB2):c.949A>C (p.Thr317Pro)
|
rs587780223
|
0.00008
|
NM_032444.4(SLX4):c.1115G>A (p.Arg372Gln)
|
rs372956623
|
0.00008
|
NM_032444.4(SLX4):c.4403G>A (p.Arg1468His)
|
rs574214196
|
0.00008
|
NM_032444.4(SLX4):c.4682C>T (p.Thr1561Met)
|
rs543847606
|
0.00008
|
NM_032444.4(SLX4):c.5229G>A (p.Ser1743=)
|
rs140231739
|
0.00008
|
NM_139027.6(ADAMTS13):c.2861G>A (p.Arg954Gln)
|
rs200273776
|
0.00008
|
NM_152564.5(VPS13B):c.4262A>G (p.His1421Arg)
|
rs371961155
|
0.00008
|
NM_152564.5(VPS13B):c.436C>T (p.Arg146Ter)
|
rs144539572
|
0.00008
|
NM_152564.5(VPS13B):c.9530T>C (p.Leu3177Pro)
|
rs199559979
|
0.00008
|
NM_172351.3(CD46):c.261A>G (p.Leu87=)
|
rs115385712
|
0.00008
|
NM_181507.2(HPS5):c.1940T>C (p.Leu647Ser)
|
rs781166596
|
0.00008
|
NM_000059.4(BRCA2):c.6877T>C (p.Phe2293Leu)
|
rs80358912
|
0.00007
|
NM_000064.4(C3):c.2951-5T>C
|
rs375107570
|
0.00007
|
NM_000064.4(C3):c.3124C>T (p.Arg1042Trp)
|
rs550043629
|
0.00007
|
NM_000096.4(CP):c.2998G>A (p.Gly1000Ser)
|
rs187293972
|
0.00007
|
NM_000128.4(F11):c.783G>C (p.Glu261Asp)
|
rs201079681
|
0.00007
|
NM_000132.4(F8):c.4442T>C (p.Leu1481Pro)
|
rs1800294
|
0.00007
|
NM_000135.4(FANCA):c.1225+14C>T
|
rs376558078
|
0.00007
|
NM_000135.4(FANCA):c.1634G>T (p.Ser545Ile)
|
rs200922390
|
0.00007
|
NM_000135.4(FANCA):c.3196G>C (p.Ala1066Pro)
|
rs556235245
|
0.00007
|
NM_000135.4(FANCA):c.3420C>T (p.Asn1140=)
|
rs369765552
|
0.00007
|
NM_000135.4(FANCA):c.685G>A (p.Asp229Asn)
|
rs148419748
|
0.00007
|
NM_000135.4(FANCA):c.737G>A (p.Gly246Glu)
|
rs555519520
|
0.00007
|
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter)
|
rs104886457
|
0.00007
|
NM_000136.3(FANCC):c.248A>G (p.Tyr83Cys)
|
rs140992397
|
0.00007
|
NM_000136.3(FANCC):c.889A>T (p.Met297Leu)
|
rs730881719
|
0.00007
|
NM_000186.4(CFH):c.350+9T>C
|
rs201686629
|
0.00007
|
NM_000298.6(PKLR):c.1379T>C (p.Val460Ala)
|
rs149946271
|
0.00007
|
NM_000301.5(PLG):c.669-3C>G
|
rs368764348
|
0.00007
|
NM_000312.4(PROC):c.322C>A (p.His108Asn)
|
rs200234655
|
0.00007
|
NM_000342.4(SLC4A1):c.523C>A (p.Pro175Thr)
|
rs201611359
|
0.00007
|
NM_000518.4(HBB):c.34G>A (p.Val12Ile)
|
rs33974228
|
0.00007
|
NM_000518.5(HBB):c.92+6T>C
|
rs35724775
|
0.00007
|
NM_001006658.3(CR2):c.249A>C (p.Glu83Asp)
|
rs749360324
|
0.00007
|
NM_001018115.3(FANCD2):c.1757C>T (p.Ala586Val)
|
rs377490218
|
0.00007
|
NM_001018115.3(FANCD2):c.817A>G (p.Ile273Val)
|
rs770985541
|
0.00007
|
NM_001081.4(CUBN):c.10028C>T (p.Pro3343Leu)
|
rs150358307
|
0.00007
|
NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu)
|
rs202153130
|
0.00007
|
NM_001081.4(CUBN):c.1715A>T (p.His572Leu)
|
rs368231433
|
0.00007
|
NM_001081.4(CUBN):c.4129C>T (p.Arg1377Cys)
|
rs763563422
|
0.00007
|
NM_001081.4(CUBN):c.7095G>A (p.Trp2365Ter)
|
rs374538208
|
0.00007
|
NM_001081.4(CUBN):c.7990C>G (p.Gln2664Glu)
|
rs575118918
|
0.00007
|
NM_001081.4(CUBN):c.8891C>G (p.Ser2964Cys)
|
rs148348845
|
0.00007
|
NM_001083116.3(PRF1):c.445G>A (p.Gly149Ser)
|
rs147462227
|
0.00007
|
NM_001113378.2(FANCI):c.1412C>G (p.Pro471Arg)
|
rs139072231
|
0.00007
|
NM_001113378.2(FANCI):c.3946G>A (p.Gly1316Arg)
|
rs369058619
|
0.00007
|
NM_001164277.2(SLC37A4):c.496C>T (p.Arg166Cys)
|
rs11552539
|
0.00007
|
NM_001164277.2(SLC37A4):c.567T>C (p.Asn189=)
|
rs368678559
|
0.00007
|
NM_001364905.1(LRBA):c.4513A>G (p.Arg1505Gly)
|
rs140925698
|
0.00007
|
NM_002454.3(MTRR):c.1573C>T (p.Arg525Ter)
|
rs147277149
|
0.00007
|
NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe)
|
rs397516797
|
0.00007
|
NM_003664.5(AP3B1):c.1367T>C (p.Ile456Thr)
|
rs536306260
|
0.00007
|
NM_004629.2(FANCG):c.421C>T (p.Arg141Cys)
|
rs201153812
|
0.00007
|
NM_005105.5(RBM8A):c.128-9C>T
|
rs185927426
|
0.00007
|
NM_018368.4(LMBRD1):c.636+14G>T
|
rs376670737
|
0.00007
|
NM_020937.4(FANCM):c.1636G>A (p.Gly546Ser)
|
rs768676143
|
0.00007
|
NM_020937.4(FANCM):c.1742G>A (p.Arg581His)
|
rs748083548
|
0.00007
|
NM_020937.4(FANCM):c.1760T>C (p.Ile587Thr)
|
rs147805461
|
0.00007
|
NM_020937.4(FANCM):c.2716A>T (p.Ile906Phe)
|
rs773837264
|
0.00007
|
NM_020937.4(FANCM):c.3371C>T (p.Pro1124Leu)
|
rs148605513
|
0.00007
|
NM_020937.4(FANCM):c.5951A>T (p.Tyr1984Phe)
|
rs202101508
|
0.00007
|
NM_020937.4(FANCM):c.93A>G (p.Arg31=)
|
rs112641528
|
0.00007
|
NM_021922.3(FANCE):c.311C>G (p.Ala104Gly)
|
rs773580818
|
0.00007
|
NM_022725.4(FANCF):c.617C>T (p.Ala206Val)
|
rs756213451
|
0.00007
|
NM_024675.4(PALB2):c.2032C>T (p.Leu678=)
|
rs376189676
|
0.00007
|
NM_030943.4(AMN):c.197T>C (p.Val66Ala)
|
rs371713937
|
0.00007
|
NM_030943.4(AMN):c.841C>T (p.Leu281=)
|
rs569327877
|
0.00007
|
NM_032444.4(SLX4):c.1232G>A (p.Arg411Gln)
|
rs201009985
|
0.00007
|
NM_032444.4(SLX4):c.1385A>G (p.Lys462Arg)
|
rs112133511
|
0.00007
|
NM_032444.4(SLX4):c.1706C>T (p.Pro569Leu)
|
rs534528576
|
0.00007
|
NM_032444.4(SLX4):c.2034T>G (p.Val678=)
|
rs200278096
|
0.00007
|
NM_032444.4(SLX4):c.4344C>T (p.Pro1448=)
|
rs368388100
|
0.00007
|
NM_032444.4(SLX4):c.4393C>T (p.Arg1465Cys)
|
rs765485426
|
0.00007
|
NM_032444.4(SLX4):c.5208C>T (p.Gly1736=)
|
rs569225834
|
0.00007
|
NM_032444.4(SLX4):c.679G>A (p.Ala227Thr)
|
rs147872182
|
0.00007
|
NM_152703.5(SAMD9L):c.1015C>A (p.Leu339Ile)
|
rs138238924
|
0.00007
|
NM_198253.3(TERT):c.887A>C (p.His296Pro)
|
rs778187343
|
0.00007
|
NM_206937.2(LIG4):c.2440C>T (p.Arg814Ter)
|
rs104894419
|
0.00007
|
NM_000057.4(BLM):c.2619G>C (p.Lys873Asn)
|
rs146723808
|
0.00006
|
NM_000059.4(BRCA2):c.3922G>T (p.Glu1308Ter)
|
rs80358638
|
0.00006
|
NM_000059.4(BRCA2):c.7051G>A (p.Ala2351Thr)
|
rs80358930
|
0.00006
|
NM_000064.4(C3):c.2248A>T (p.Asn750Tyr)
|
rs769294331
|
0.00006
|
NM_000064.4(C3):c.2441-7C>T
|
rs372528487
|
0.00006
|
NM_000064.4(C3):c.3018C>T (p.Thr1006=)
|
rs141373588
|
0.00006
|
NM_000064.4(C3):c.3858C>T (p.Ala1286=)
|
rs751808949
|
0.00006
|
NM_000128.4(F11):c.1288G>A (p.Ala430Thr)
|
rs753909969
|
0.00006
|
NM_000135.4(FANCA):c.1018G>A (p.Val340Ile)
|
rs774948790
|
0.00006
|
NM_000135.4(FANCA):c.1226-4C>G
|
rs934483477
|
0.00006
|
NM_000135.4(FANCA):c.1734C>T (p.Tyr578=)
|
rs762647468
|
0.00006
|
NM_000135.4(FANCA):c.1901-10C>T
|
rs766654290
|
0.00006
|
NM_000135.4(FANCA):c.2292G>A (p.Arg764=)
|
rs56267906
|
0.00006
|
NM_000135.4(FANCA):c.2778+12T>C
|
rs775047268
|
0.00006
|
NM_000135.4(FANCA):c.3408+16A>G
|
rs373636902
|
0.00006
|
NM_000135.4(FANCA):c.3950G>A (p.Arg1317Gln)
|
rs376523966
|
0.00006
|
NM_000135.4(FANCA):c.3962G>A (p.Arg1321His)
|
rs374649848
|
0.00006
|
NM_000135.4(FANCA):c.4232C>T (p.Pro1411Leu)
|
rs201494304
|
0.00006
|
NM_000135.4(FANCA):c.4244T>G (p.Phe1415Cys)
|
rs201658945
|
0.00006
|
NM_000135.4(FANCA):c.4273C>T (p.Arg1425Cys)
|
rs587778321
|
0.00006
|
NM_000135.4(FANCA):c.862G>T (p.Glu288Ter)
|
rs148100796
|
0.00006
|
NM_000136.3(FANCC):c.733C>T (p.Arg245Trp)
|
rs571548182
|
0.00006
|
NM_000136.3(FANCC):c.767A>G (p.His256Arg)
|
rs730881716
|
0.00006
|
NM_000136.3(FANCC):c.974C>T (p.Ala325Val)
|
rs367618818
|
0.00006
|
NM_000186.4(CFH):c.1922T>C (p.Val641Ala)
|
rs371768180
|
0.00006
|
NM_000186.4(CFH):c.2056+16T>C
|
rs777352172
|
0.00006
|
NM_000186.4(CFH):c.2195C>T (p.Thr732Met)
|
rs201360629
|
0.00006
|
NM_000186.4(CFH):c.245-17T>A
|
rs775088366
|
0.00006
|
NM_000195.5(HPS1):c.695C>T (p.Ala232Val)
|
rs764420988
|
0.00006
|
NM_000195.5(HPS1):c.760G>A (p.Asp254Asn)
|
rs376078258
|
0.00006
|
NM_000195.5(HPS1):c.970C>G (p.Pro324Ala)
|
rs1055799878
|
0.00006
|
NM_000204.5(CFI):c.130G>A (p.Asp44Asn)
|
rs374036714
|
0.00006
|
NM_000204.5(CFI):c.1533A>G (p.Ala511=)
|
rs369715801
|
0.00006
|
NM_000204.5(CFI):c.325G>A (p.Glu109Lys)
|
rs748098641
|
0.00006
|
NM_000204.5(CFI):c.482+7G>A
|
rs765922749
|
0.00006
|
NM_000204.5(CFI):c.949C>T (p.Arg317Trp)
|
rs121964917
|
0.00006
|
NM_000212.3(ITGB3):c.1459C>T (p.Arg487Cys)
|
rs369140365
|
0.00006
|
NM_000289.6(PFKM):c.237+1G>A
|
rs202143236
|
0.00006
|
NM_000289.6(PFKM):c.857G>A (p.Arg286His)
|
rs768496070
|
0.00006
|
NM_000301.5(PLG):c.1722G>A (p.Pro574=)
|
rs146030266
|
0.00006
|
NM_000301.5(PLG):c.646G>A (p.Ala216Thr)
|
rs374234922
|
0.00006
|
NM_000312.4(PROC):c.52G>A (p.Gly18Ser)
|
rs146793243
|
0.00006
|
NM_000313.4(PROS1):c.947G>A (p.Arg316His)
|
rs747259055
|
0.00006
|
NM_000342.4(SLC4A1):c.102G>A (p.Pro34=)
|
rs55898602
|
0.00006
|
NM_000342.4(SLC4A1):c.454G>A (p.Glu152Lys)
|
rs55840505
|
0.00006
|
NM_000342.4(SLC4A1):c.985G>A (p.Glu329Lys)
|
rs141370158
|
0.00006
|
NM_000377.3(WAS):c.1208C>T (p.Pro403Leu)
|
rs782666797
|
0.00006
|
NM_000377.3(WAS):c.273+14C>T
|
rs782249573
|
0.00006
|
NM_000398.7(CYB5R3):c.757G>A (p.Val253Met)
|
rs144071404
|
0.00006
|
NM_000518.5(HBB):c.*132C>A
|
rs1420779550
|
0.00006
|
NM_000518.5(HBB):c.75T>A (p.Gly25=)
|
rs33951465
|
0.00006
|
NM_000518.5(HBB):c.79G>A (p.Glu27Lys)
|
rs33950507
|
0.00006
|
NM_000551.3(VHL):c.-207C>T
|
rs886057698
|
0.00006
|
NM_000551.4(VHL):c.28G>A (p.Glu10Lys)
|
rs1057519261
|
0.00006
|
NM_000969.5(RPL5):c.691G>A (p.Val231Ile)
|
rs568863745
|
0.00006
|
NM_000996.4(RPL35A):c.21C>T (p.Ser7=)
|
rs145660527
|
0.00006
|
NM_000996.4(RPL35A):c.34G>A (p.Ala12Thr)
|
rs533670667
|
0.00006
|
NM_001011.4(RPS7):c.75+13C>T
|
rs751796318
|
0.00006
|
NM_001018115.3(FANCD2):c.1085A>G (p.Glu362Gly)
|
rs951763949
|
0.00006
|
NM_001018115.3(FANCD2):c.2345T>C (p.Met782Thr)
|
rs760428640
|
0.00006
|
NM_001018115.3(FANCD2):c.2859+13C>G
|
rs376913349
|
0.00006
|
NM_001018115.3(FANCD2):c.889-9T>A
|
rs767122938
|
0.00006
|
NM_001022.4(RPS19):c.183G>A (p.Ala61=)
|
rs782727047
|
0.00006
|
NM_001022.4(RPS19):c.208G>A (p.Ala70Thr)
|
rs782368794
|
0.00006
|
NM_001022.4(RPS19):c.411+19G>T
|
rs782394063
|
0.00006
|
NM_001042492.3(NF1):c.7520C>T (p.Thr2507Ile)
|
rs149055633
|
0.00006
|
NM_001081.4(CUBN):c.2120G>A (p.Arg707His)
|
rs763524933
|
0.00006
|
NM_001081.4(CUBN):c.5210-7C>G
|
rs760324864
|
0.00006
|
NM_001081.4(CUBN):c.6187C>T (p.Arg2063Trp)
|
rs781180388
|
0.00006
|
NM_001081.4(CUBN):c.7106G>T (p.Gly2369Val)
|
rs200593316
|
0.00006
|
NM_001081.4(CUBN):c.8056T>C (p.Phe2686Leu)
|
rs755819982
|
0.00006
|
NM_001081.4(CUBN):c.9298G>A (p.Asp3100Asn)
|
rs202189846
|
0.00006
|
NM_001083116.3(PRF1):c.666C>A (p.His222Gln)
|
rs751247865
|
0.00006
|
NM_001113378.2(FANCI):c.1250A>G (p.His417Arg)
|
rs377227097
|
0.00006
|
NM_001113378.2(FANCI):c.1797T>C (p.Ala599=)
|
rs563218968
|
0.00006
|
NM_001113378.2(FANCI):c.206A>G (p.Tyr69Cys)
|
rs1414995711
|
0.00006
|
NM_001113378.2(FANCI):c.2203A>G (p.Ile735Val)
|
rs377308647
|
0.00006
|
NM_001113378.2(FANCI):c.2434A>G (p.Ser812Gly)
|
rs768500794
|
0.00006
|
NM_001113378.2(FANCI):c.2833G>C (p.Glu945Gln)
|
rs142322239
|
0.00006
|
NM_001113378.2(FANCI):c.2890-19G>A
|
rs758850736
|
0.00006
|
NM_001113378.2(FANCI):c.3255T>G (p.Cys1085Trp)
|
rs755403672
|
0.00006
|
NM_001113378.2(FANCI):c.713G>A (p.Ser238Asn)
|
rs779604966
|
0.00006
|
NM_001164277.2(SLC37A4):c.1073C>T (p.Pro358Leu)
|
rs782025581
|
0.00006
|
NM_001164277.2(SLC37A4):c.972T>C (p.Ser324=)
|
rs781824710
|
0.00006
|
NM_001258392.3(CLPB):c.844A>G (p.Met282Val)
|
rs773028492
|
0.00006
|
NM_001374504.1(TMPRSS6):c.1534G>A (p.Asp512Asn)
|
rs137853120
|
0.00006
|
NM_001754.5(RUNX1):c.649G>A (p.Gly217Arg)
|
rs749004431
|
0.00006
|
NM_001770.6(CD19):c.1035G>C (p.Gln345His)
|
rs533120247
|
0.00006
|
NM_002454.3(MTRR):c.1537G>A (p.Gly513Arg)
|
rs150411351
|
0.00006
|
NM_002473.6(MYH9):c.1788C>T (p.Ile596=)
|
rs113130911
|
0.00006
|
NM_002473.6(MYH9):c.4050G>C (p.Glu1350Asp)
|
rs375955867
|
0.00006
|
NM_002473.6(MYH9):c.4479G>A (p.Ala1493=)
|
rs149271663
|
0.00006
|
NM_002473.6(MYH9):c.4684C>G (p.Leu1562Val)
|
rs139039608
|
0.00006
|
NM_002473.6(MYH9):c.4753A>C (p.Lys1585Gln)
|
rs149169068
|
0.00006
|
NM_002693.3(POLG):c.3701G>A (p.Arg1234Gln)
|
rs750792237
|
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_003200.5(TCF3):c.1541C>T (p.Ser514Leu)
|
rs372168347
|
0.00006
|
NM_004629.2(FANCG):c.1801C>T (p.Arg601Cys)
|
rs368098479
|
0.00006
|
NM_005188.4(CBL):c.1423G>A (p.Gly475Ser)
|
rs764599897
|
0.00006
|
NM_005236.3(ERCC4):c.1728A>T (p.Arg576Ser)
|
rs765454246
|
0.00006
|
NM_005236.3(ERCC4):c.2218C>T (p.Arg740Cys)
|
rs376688194
|
0.00006
|
NM_005236.3(ERCC4):c.2603A>C (p.His868Pro)
|
rs368064765
|
0.00006
|
NM_005373.3(MPL):c.622C>A (p.Gln208Lys)
|
rs111460954
|
0.00006
|
NM_006118.4(HAX1):c.122G>T (p.Gly41Val)
|
rs369987963
|
0.00006
|
NM_006516.4(SLC2A1):c.1016T>C (p.Ile339Thr)
|
rs141619735
|
0.00006
|
NM_006516.4(SLC2A1):c.188C>T (p.Thr63Met)
|
rs200828053
|
0.00006
|
NM_006846.4(SPINK5):c.2167C>T (p.Arg723Trp)
|
rs369782107
|
0.00006
|
NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter)
|
rs370596113
|
0.00006
|
NM_018062.4(FANCL):c.288G>T (p.Lys96Asn)
|
rs770368316
|
0.00006
|
NM_018389.5(SLC35C1):c.890A>G (p.Asn297Ser)
|
rs756683159
|
0.00006
|
NM_019616.4(F7):c.364+1G>A
|
rs1056071555
|
0.00006
|
NM_019616.4(F7):c.845C>T (p.Ala282Val)
|
rs121964931
|
0.00006
|
NM_020937.4(FANCM):c.1397-16T>A
|
rs752547104
|
0.00006
|
NM_020937.4(FANCM):c.179C>A (p.Ala60Glu)
|
rs200717151
|
0.00006
|
NM_020937.4(FANCM):c.2452A>G (p.Ile818Val)
|
rs199948045
|
0.00006
|
NM_020937.4(FANCM):c.3096T>C (p.Asp1032=)
|
rs199507375
|
0.00006
|
NM_020937.4(FANCM):c.3499A>G (p.Ile1167Val)
|
rs573485502
|
0.00006
|
NM_020937.4(FANCM):c.3731A>G (p.Glu1244Gly)
|
rs746030136
|
0.00006
|
NM_020937.4(FANCM):c.4708C>T (p.Arg1570Cys)
|
rs139376041
|
0.00006
|
NM_020937.4(FANCM):c.4934G>A (p.Arg1645His)
|
rs377502779
|
0.00006
|
NM_020937.4(FANCM):c.6143T>C (p.Ile2048Thr)
|
rs150447576
|
0.00006
|
NM_021871.4(FGA):c.1444G>A (p.Val482Met)
|
rs139146037
|
0.00006
|
NM_021922.3(FANCE):c.316C>T (p.Arg106Trp)
|
rs759034838
|
0.00006
|
NM_021922.3(FANCE):c.524G>A (p.Gly175Asp)
|
rs765538271
|
0.00006
|
NM_021922.3(FANCE):c.901-20C>T
|
rs754828130
|
0.00006
|
NM_021922.3(FANCE):c.954A>G (p.Glu318=)
|
rs149719310
|
0.00006
|
NM_021922.3(FANCE):c.970-17C>A
|
rs758179752
|
0.00006
|
NM_024675.4(PALB2):c.1935G>A (p.Glu645=)
|
rs141707455
|
0.00006
|
NM_024675.4(PALB2):c.2506G>C (p.Val836Leu)
|
rs536644825
|
0.00006
|
NM_024675.4(PALB2):c.3297G>A (p.Thr1099=)
|
rs45565738
|
0.00006
|
NM_024675.4(PALB2):c.3428T>A (p.Leu1143His)
|
rs62625284
|
0.00006
|
NM_024675.4(PALB2):c.765T>C (p.Asp255=)
|
rs45465299
|
0.00006
|
NM_025215.6(PUS1):c.365G>A (p.Arg122Gln)
|
rs199863621
|
0.00006
|
NM_030943.4(AMN):c.45A>C (p.Ala15=)
|
rs753339887
|
0.00006
|
NM_032043.3(BRIP1):c.550G>T (p.Asp184Tyr)
|
rs201047375
|
0.00006
|
NM_032122.5(DTNBP1):c.355+10A>G
|
rs368923800
|
0.00006
|
NM_032383.5(HPS3):c.159G>T (p.Gln53His)
|
rs774480483
|
0.00006
|
NM_032444.4(SLX4):c.1010C>T (p.Pro337Leu)
|
rs200363140
|
0.00006
|
NM_032444.4(SLX4):c.1243G>A (p.Glu415Lys)
|
rs146021821
|
0.00006
|
NM_032444.4(SLX4):c.1415T>C (p.Leu472Ser)
|
rs776189589
|
0.00006
|
NM_032444.4(SLX4):c.1442G>A (p.Arg481Gln)
|
rs145194745
|
0.00006
|
NM_032444.4(SLX4):c.1455C>A (p.Asp485Glu)
|
rs150053867
|
0.00006
|
NM_032444.4(SLX4):c.1904C>T (p.Ala635Val)
|
rs746717279
|
0.00006
|
NM_032444.4(SLX4):c.2381A>T (p.Asp794Val)
|
rs201622632
|
0.00006
|
NM_032444.4(SLX4):c.258A>G (p.Ile86Met)
|
rs112205823
|
0.00006
|
NM_032444.4(SLX4):c.2749G>A (p.Ala917Thr)
|
rs148428054
|
0.00006
|
NM_032444.4(SLX4):c.2898G>A (p.Gln966=)
|
rs748700450
|
0.00006
|
NM_032444.4(SLX4):c.2941G>A (p.Gly981Arg)
|
rs546628836
|
0.00006
|
NM_032444.4(SLX4):c.3101G>A (p.Arg1034His)
|
rs150453226
|
0.00006
|
NM_032444.4(SLX4):c.3844C>T (p.Leu1282=)
|
rs772652088
|
0.00006
|
NM_032444.4(SLX4):c.4146C>A (p.Ser1382Arg)
|
rs926938694
|
0.00006
|
NM_032444.4(SLX4):c.4335G>C (p.Arg1445=)
|
rs139377113
|
0.00006
|
NM_032444.4(SLX4):c.5072A>G (p.Asn1691Ser)
|
rs551385115
|
0.00006
|
NM_032444.4(SLX4):c.5441G>A (p.Arg1814His)
|
rs201036767
|
0.00006
|
NM_032444.4(SLX4):c.5477G>A (p.Arg1826Gln)
|
rs373558741
|
0.00006
|
NM_033360.4(KRAS):c.4+5G>A
|
rs201789109
|
0.00006
|
NM_058216.3(RAD51C):c.14C>T (p.Thr5Met)
|
rs201523760
|
0.00006
|
NM_058216.3(RAD51C):c.492T>G (p.Phe164Leu)
|
rs573992101
|
0.00006
|
NM_139027.6(ADAMTS13):c.1841A>C (p.Asn614Thr)
|
rs782396358
|
0.00006
|
NM_139027.6(ADAMTS13):c.2008C>T (p.Arg670Cys)
|
rs139214644
|
0.00006
|
NM_139027.6(ADAMTS13):c.3545C>T (p.Ala1182Val)
|
rs587697598
|
0.00006
|
NM_139027.6(ADAMTS13):c.3975dup (p.Glu1326fs)
|
rs387906343
|
0.00006
|
NM_139027.6(ADAMTS13):c.775G>A (p.Gly259Ser)
|
rs886063632
|
0.00006
|
NM_152564.5(VPS13B):c.11170G>A (p.Glu3724Lys)
|
rs180177372
|
0.00006
|
NM_152564.5(VPS13B):c.2056C>T (p.Arg686Trp)
|
rs148047632
|
0.00006
|
NM_152564.5(VPS13B):c.2917A>G (p.Ser973Gly)
|
rs749751670
|
0.00006
|
NM_152564.5(VPS13B):c.6727G>T (p.Glu2243Ter)
|
rs146960401
|
0.00006
|
NM_152703.5(SAMD9L):c.4082T>C (p.Val1361Ala)
|
rs202162088
|
0.00006
|
NM_183235.3(RAB27A):c.213G>T (p.Gln71His)
|
rs776920896
|
0.00006
|
NM_198253.3(TERT):c.159G>C (p.Gln53His)
|
rs1060503006
|
0.00006
|
NM_206965.2(FTCD):c.236A>C (p.Gln79Pro)
|
rs775726030
|
0.00006
|
NM_000057.4(BLM):c.368A>G (p.Gln123Arg)
|
rs371223446
|
0.00005
|
NM_000061.3(BTK):c.1103-11C>G
|
rs782217532
|
0.00005
|
NM_000064.4(C3):c.1854C>T (p.Asp618=)
|
rs570503574
|
0.00005
|
NM_000064.4(C3):c.3096G>C (p.Glu1032Asp)
|
rs148698696
|
0.00005
|
NM_000064.4(C3):c.3131G>A (p.Gly1044Glu)
|
rs373392964
|
0.00005
|
NM_000064.4(C3):c.4084G>A (p.Asp1362Asn)
|
rs368788004
|
0.00005
|
NM_000096.4(CP):c.1472A>G (p.Tyr491Cys)
|
rs373531113
|
0.00005
|
NM_000128.4(F11):c.438C>A (p.Cys146Ter)
|
rs121965066
|
0.00005
|
NM_000132.4(F8):c.2150G>A (p.Arg717Gln)
|
rs942909873
|
0.00005
|
NM_000132.4(F8):c.6374G>C (p.Ser2125Thr)
|
rs782363141
|
0.00005
|
NM_000135.4(FANCA):c.1827-1G>A
|
rs555449842
|
0.00005
|
NM_000135.4(FANCA):c.2212C>T (p.Pro738Ser)
|
rs751015814
|
0.00005
|
NM_000135.4(FANCA):c.2317-8C>T
|
rs753766357
|
0.00005
|
NM_000135.4(FANCA):c.2735C>T (p.Thr912Ile)
|
rs376302719
|
0.00005
|
NM_000135.4(FANCA):c.4325C>G (p.Ala1442Gly)
|
rs144171225
|
0.00005
|
NM_000136.3(FANCC):c.1241C>T (p.Ser414Leu)
|
rs200719554
|
0.00005
|
NM_000136.3(FANCC):c.1316G>A (p.Arg439Lys)
|
rs730881723
|
0.00005
|
NM_000136.3(FANCC):c.1406C>T (p.Thr469Met)
|
rs149917017
|
0.00005
|
NM_000136.3(FANCC):c.800A>G (p.Asn267Ser)
|
rs200854639
|
0.00005
|
NM_000186.4(CFH):c.3160G>A (p.Val1054Ile)
|
rs757426928
|
0.00005
|
NM_000186.4(CFH):c.59-16T>C
|
rs201067374
|
0.00005
|
NM_000195.5(HPS1):c.1860G>A (p.Gly620=)
|
rs376722018
|
0.00005
|
NM_000195.5(HPS1):c.320G>A (p.Arg107Gln)
|
rs538482143
|
0.00005
|
NM_000195.5(HPS1):c.742G>A (p.Glu248Lys)
|
rs11189601
|
0.00005
|
NM_000195.5(HPS1):c.909A>G (p.Pro303=)
|
rs139169204
|
0.00005
|
NM_000204.5(CFI):c.1044+8C>T
|
rs190420174
|
0.00005
|
NM_000204.5(CFI):c.1150G>A (p.Ala384Thr)
|
rs762315947
|
0.00005
|
NM_000204.5(CFI):c.729T>A (p.Gly243=)
|
rs749140698
|
0.00005
|
NM_000312.4(PROC):c.541T>G (p.Phe181Val)
|
rs199469470
|
0.00005
|
NM_000313.4(PROS1):c.*550G>A
|
rs925792694
|
0.00005
|
NM_000313.4(PROS1):c.1247C>T (p.Pro416Leu)
|
rs565325519
|
0.00005
|
NM_000361.3(THBD):c.1406A>G (p.Asp469Gly)
|
rs373741115
|
0.00005
|
NM_000377.3(WAS):c.941C>T (p.Pro314Leu)
|
rs782752881
|
0.00005
|
NM_000398.7(CYB5R3):c.89C>T (p.Ser30Phe)
|
rs147960720
|
0.00005
|
NM_000488.4(SERPINC1):c.886G>C (p.Ala296Pro)
|
rs372820797
|
0.00005
|
NM_000489.6(ATRX):c.7432C>G (p.Pro2478Ala)
|
rs199543136
|
0.00005
|
NM_000518.5(HBB):c.92+1G>A
|
rs33971440
|
0.00005
|
NM_000552.5(VWF):c.1205G>A (p.Arg402Lys)
|
rs779082753
|
0.00005
|
NM_000987.5(RPL26):c.327A>G (p.Leu109=)
|
rs755255765
|
0.00005
|
NM_001006658.3(CR2):c.3244_3245del (p.Val1082fs)
|
rs775594743
|
0.00005
|
NM_001018113.3(FANCB):c.1494G>T (p.Lys498Asn)
|
rs199510538
|
0.00005
|
NM_001018115.3(FANCD2):c.2022-4G>A
|
rs748941966
|
0.00005
|
NM_001018115.3(FANCD2):c.2068G>A (p.Asp690Asn)
|
rs534038231
|
0.00005
|
NM_001018115.3(FANCD2):c.3850-17G>T
|
rs369702202
|
0.00005
|
NM_001018115.3(FANCD2):c.943C>T (p.Arg315Trp)
|
rs778865461
|
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_001081.4(CUBN):c.10102A>G (p.Met3368Val)
|
rs767333853
|
0.00005
|
NM_001081.4(CUBN):c.10235C>T (p.Pro3412Leu)
|
rs556303931
|
0.00005
|
NM_001081.4(CUBN):c.113A>G (p.Asn38Ser)
|
rs776471095
|
0.00005
|
NM_001081.4(CUBN):c.2476G>A (p.Val826Ile)
|
rs141874896
|
0.00005
|
NM_001081.4(CUBN):c.4420C>T (p.Pro1474Ser)
|
rs201251467
|
0.00005
|
NM_001081.4(CUBN):c.4470C>T (p.Thr1490=)
|
rs768720429
|
0.00005
|
NM_001081.4(CUBN):c.4797G>T (p.Leu1599Phe)
|
rs201294291
|
0.00005
|
NM_001081.4(CUBN):c.4964C>G (p.Pro1655Arg)
|
rs532968940
|
0.00005
|
NM_001081.4(CUBN):c.5189C>T (p.Thr1730Met)
|
rs201958183
|
0.00005
|
NM_001082486.2(ACD):c.1268C>T (p.Thr423Met)
|
rs372747629
|
0.00005
|
NM_001113378.2(FANCI):c.1263C>T (p.Leu421=)
|
rs376956791
|
0.00005
|
NM_001113378.2(FANCI):c.1564C>T (p.Arg522Trp)
|
rs371568506
|
0.00005
|
NM_001113378.2(FANCI):c.1727A>G (p.Asn576Ser)
|
rs573652425
|
0.00005
|
NM_001113378.2(FANCI):c.2946C>T (p.Ala982=)
|
rs762453164
|
0.00005
|
NM_001113378.2(FANCI):c.3007-7A>G
|
rs778906473
|
0.00005
|
NM_001113378.2(FANCI):c.3907G>A (p.Glu1303Lys)
|
rs544848412
|
0.00005
|
NM_001113378.2(FANCI):c.534C>T (p.Thr178=)
|
rs754733731
|
0.00005
|
NM_001164277.2(SLC37A4):c.631T>G (p.Leu211Val)
|
rs537115620
|
0.00005
|
NM_001375808.2(LPIN2):c.2650C>T (p.Arg884Ter)
|
rs547662448
|
0.00005
|
NM_001710.6(CFB):c.1778+8C>T
|
rs148298609
|
0.00005
|
NM_002049.4(GATA1):c.94G>A (p.Val32Ile)
|
rs782698349
|
0.00005
|
NM_002473.6(MYH9):c.3384T>C (p.Asn1128=)
|
rs531623930
|
0.00005
|
NM_002485.5(NBN):c.1457C>T (p.Ser486Phe)
|
rs572568222
|
0.00005
|
NM_002485.5(NBN):c.664T>C (p.Phe222Leu)
|
rs541992192
|
0.00005
|
NM_002948.5(RPL15):c.458A>G (p.Lys153Arg)
|
rs370700905
|
0.00005
|
NM_004629.2(FANCG):c.1158C>G (p.Pro386=)
|
rs201041980
|
0.00005
|
NM_004629.2(FANCG):c.704C>T (p.Ala235Val)
|
rs574975594
|
0.00005
|
NM_004629.2(FANCG):c.769C>T (p.Arg257Cys)
|
rs759314410
|
0.00005
|
NM_005050.4(ABCD4):c.364C>T (p.Leu122Phe)
|
rs141808601
|
0.00005
|
NM_005188.4(CBL):c.2520T>G (p.Cys840Trp)
|
rs112330156
|
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_006516.4(SLC2A1):c.276-9C>T
|
rs529579952
|
0.00005
|
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr)
|
rs80357102
|
0.00005
|
NM_018062.4(FANCL):c.1051_1052dup (p.Ser351fs)
|
rs750871999
|
0.00005
|
NM_020070.4(IGLL1):c.118C>T (p.Arg40Cys)
|
rs199529532
|
0.00005
|
NM_020937.4(FANCM):c.1091G>C (p.Cys364Ser)
|
rs1257244524
|
0.00005
|
NM_020937.4(FANCM):c.1550C>T (p.Thr517Met)
|
rs149473953
|
0.00005
|
NM_020937.4(FANCM):c.2426T>G (p.Phe809Cys)
|
rs565347397
|
0.00005
|
NM_020937.4(FANCM):c.3509C>T (p.Thr1170Met)
|
rs151218879
|
0.00005
|
NM_020937.4(FANCM):c.3852T>G (p.Asp1284Glu)
|
rs778247426
|
0.00005
|
NM_021922.3(FANCE):c.210G>A (p.Glu70=)
|
rs1008512809
|
0.00005
|
NM_021922.3(FANCE):c.298T>A (p.Ser100Thr)
|
rs768911543
|
0.00005
|
NM_021922.3(FANCE):c.397C>T (p.Leu133Phe)
|
rs759124595
|
0.00005
|
NM_021922.3(FANCE):c.856-3C>T
|
rs749111562
|
0.00005
|
NM_024675.4(PALB2):c.1337A>T (p.Asp446Val)
|
rs146434474
|
0.00005
|
NM_024675.4(PALB2):c.2234A>G (p.Lys745Arg)
|
rs142343372
|
0.00005
|
NM_024675.4(PALB2):c.2773G>C (p.Val925Leu)
|
rs180177125
|
0.00005
|
NM_024675.4(PALB2):c.3404G>A (p.Gly1135Glu)
|
rs730881894
|
0.00005
|
NM_030943.4(AMN):c.400C>G (p.Arg134Gly)
|
rs758317090
|
0.00005
|
NM_032383.5(HPS3):c.1163+1G>A
|
rs201227603
|
0.00005
|
NM_032444.4(SLX4):c.1379G>A (p.Arg460His)
|
rs369994733
|
0.00005
|
NM_032444.4(SLX4):c.1640C>T (p.Thr547Met)
|
rs755156257
|
0.00005
|
NM_032444.4(SLX4):c.1945G>A (p.Gly649Ser)
|
rs780269002
|
0.00005
|
NM_032444.4(SLX4):c.1990C>A (p.Pro664Thr)
|
rs759223029
|
0.00005
|
NM_032444.4(SLX4):c.2259C>G (p.His753Gln)
|
rs374294258
|
0.00005
|
NM_032444.4(SLX4):c.237T>C (p.Ala79=)
|
rs375620914
|
0.00005
|
NM_032444.4(SLX4):c.3136C>T (p.Arg1046Cys)
|
rs140529288
|
0.00005
|
NM_032444.4(SLX4):c.3184C>T (p.Arg1062Cys)
|
rs569194362
|
0.00005
|
NM_032444.4(SLX4):c.3409A>G (p.Arg1137Gly)
|
rs761238767
|
0.00005
|
NM_032444.4(SLX4):c.3701C>T (p.Ala1234Val)
|
rs186036075
|
0.00005
|
NM_032444.4(SLX4):c.3841G>A (p.Gly1281Arg)
|
rs754996241
|
0.00005
|
NM_032444.4(SLX4):c.4046G>C (p.Gly1349Ala)
|
rs151144102
|
0.00005
|
NM_032444.4(SLX4):c.4712C>T (p.Thr1571Met)
|
rs765601038
|
0.00005
|
NM_032444.4(SLX4):c.4750C>T (p.Arg1584Cys)
|
rs560866356
|
0.00005
|
NM_032444.4(SLX4):c.4856C>T (p.Pro1619Leu)
|
rs771200478
|
0.00005
|
NM_032444.4(SLX4):c.5188T>C (p.Ser1730Pro)
|
rs199838670
|
0.00005
|
NM_032444.4(SLX4):c.528A>T (p.Lys176Asn)
|
rs778569160
|
0.00005
|
NM_032444.4(SLX4):c.5383C>T (p.Arg1795Cys)
|
rs762619200
|
0.00005
|
NM_032444.4(SLX4):c.5476C>T (p.Arg1826Trp)
|
rs199736788
|
0.00005
|
NM_032444.4(SLX4):c.668G>A (p.Arg223His)
|
rs762475814
|
0.00005
|
NM_139027.6(ADAMTS13):c.4020G>T (p.Lys1340Asn)
|
rs782518928
|
0.00005
|
NM_139027.6(ADAMTS13):c.540-3G>A
|
rs886063631
|
0.00005
|
NM_152564.5(VPS13B):c.2473G>A (p.Ala825Thr)
|
rs148788159
|
0.00005
|
NM_152703.5(SAMD9L):c.2316T>G (p.Thr772=)
|
rs201861233
|
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_206937.2(LIG4):c.1882C>T (p.Arg628Trp)
|
rs755708095
|
0.00005
|
NM_206937.2(LIG4):c.381G>C (p.Met127Ile)
|
rs61752350
|
0.00005
|
NM_000057.4(BLM):c.2371C>T (p.Arg791Cys)
|
rs55880859
|
0.00004
|
NM_000057.4(BLM):c.2432A>G (p.Tyr811Cys)
|
rs145029382
|
0.00004
|
NM_000057.4(BLM):c.2515A>G (p.Lys839Glu)
|
rs201427280
|
0.00004
|
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter)
|
rs587779884
|
0.00004
|
NM_000057.4(BLM):c.3556A>G (p.Lys1186Glu)
|
rs750532596
|
0.00004
|
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter)
|
rs80358721
|
0.00004
|
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter)
|
rs80359212
|
0.00004
|
NM_000064.4(C3):c.1274G>T (p.Arg425Leu)
|
rs201714568
|
0.00004
|
NM_000064.4(C3):c.2668C>T (p.Pro890Ser)
|
rs531463049
|
0.00004
|
NM_000064.4(C3):c.305G>A (p.Arg102His)
|
rs554587967
|
0.00004
|
NM_000064.4(C3):c.769G>A (p.Ala257Thr)
|
rs200918899
|
0.00004
|
NM_000064.4(C3):c.944G>A (p.Arg315Gln)
|
rs761503659
|
0.00004
|
NM_000081.4(LYST):c.1390G>A (p.Glu464Lys)
|
rs374284011
|
0.00004
|
NM_000081.4(LYST):c.4705A>C (p.Asn1569His)
|
rs767687843
|
0.00004
|
NM_000128.4(F11):c.400C>T (p.Gln134Ter)
|
rs756908183
|
0.00004
|
NM_000128.4(F11):c.422C>T (p.Thr141Met)
|
rs200593979
|
0.00004
|
NM_000133.4(F9):c.316G>A (p.Gly106Ser)
|
rs137852233
|
0.00004
|
NM_000133.4(F9):c.658T>A (p.Ser220Thr)
|
rs777361659
|
0.00004
|
NM_000135.4(FANCA):c.1359+5G>C
|
rs183569738
|
0.00004
|
NM_000135.4(FANCA):c.1424C>T (p.Thr475Met)
|
rs761957732
|
0.00004
|
NM_000135.4(FANCA):c.1510C>T (p.Arg504Cys)
|
rs200291237
|
0.00004
|
NM_000135.4(FANCA):c.1675G>A (p.Glu559Lys)
|
rs201323171
|
0.00004
|
NM_000135.4(FANCA):c.1777-15C>G
|
rs371919426
|
0.00004
|
NM_000135.4(FANCA):c.1799G>A (p.Arg600His)
|
rs775917892
|
0.00004
|
NM_000135.4(FANCA):c.1899A>C (p.Glu633Asp)
|
rs768520283
|
0.00004
|
NM_000135.4(FANCA):c.1951G>A (p.Gly651Arg)
|
rs140785340
|
0.00004
|
NM_000135.4(FANCA):c.2228G>A (p.Gly743Asp)
|
rs763187355
|
0.00004
|
NM_000135.4(FANCA):c.2291G>A (p.Arg764Gln)
|
rs377442601
|
0.00004
|
NM_000135.4(FANCA):c.2507T>A (p.Phe836Tyr)
|
rs142869950
|
0.00004
|
NM_000135.4(FANCA):c.2602-16T>G
|
rs762865666
|
0.00004
|
NM_000135.4(FANCA):c.2706C>G (p.Asp902Glu)
|
rs587778315
|
0.00004
|
NM_000135.4(FANCA):c.3032G>A (p.Arg1011His)
|
rs200022826
|
0.00004
|
NM_000135.4(FANCA):c.3239+7C>T
|
rs775293779
|
0.00004
|
NM_000135.4(FANCA):c.3476G>C (p.Cys1159Ser)
|
rs762837582
|
0.00004
|
NM_000135.4(FANCA):c.4015del (p.Leu1339fs)
|
rs762902309
|
0.00004
|
NM_000135.4(FANCA):c.4133C>T (p.Pro1378Leu)
|
rs760814763
|
0.00004
|
NM_000135.4(FANCA):c.46G>C (p.Gly16Arg)
|
rs943773590
|
0.00004
|
NM_000135.4(FANCA):c.661A>G (p.Met221Val)
|
rs150924963
|
0.00004
|
NM_000135.4(FANCA):c.944C>G (p.Pro315Arg)
|
rs764121307
|
0.00004
|
NM_000136.3(FANCC):c.1493C>T (p.Ala498Val)
|
rs730881725
|
0.00004
|
NM_000136.3(FANCC):c.202G>C (p.Gly68Arg)
|
rs777111154
|
0.00004
|
NM_000136.3(FANCC):c.28T>G (p.Cys10Gly)
|
rs147479204
|
0.00004
|
NM_000136.3(FANCC):c.491A>C (p.Asn164Thr)
|
rs950623649
|
0.00004
|
NM_000136.3(FANCC):c.521+1G>A
|
rs145394391
|
0.00004
|
NM_000136.3(FANCC):c.748C>A (p.Leu250Ile)
|
rs778966663
|
0.00004
|
NM_000186.4(CFH):c.1998G>T (p.Lys666Asn)
|
rs752859825
|
0.00004
|
NM_000186.4(CFH):c.2236+18A>G
|
rs749643506
|
0.00004
|
NM_000186.4(CFH):c.2957-15T>C
|
rs756514818
|
0.00004
|
NM_000186.4(CFH):c.3028G>A (p.Ala1010Thr)
|
rs11539862
|
0.00004
|
NM_000186.4(CFH):c.565G>A (p.Glu189Lys)
|
rs121913054
|
0.00004
|
NM_000186.4(CFH):c.807T>C (p.Asn269=)
|
rs757654697
|
0.00004
|
NM_000186.4(CFH):c.964+18C>A
|
rs1258420173
|
0.00004
|
NM_000195.5(HPS1):c.1164C>T (p.Ser388=)
|
rs747305546
|
0.00004
|
NM_000195.5(HPS1):c.1341C>G (p.Thr447=)
|
rs990213443
|
0.00004
|
NM_000195.5(HPS1):c.1532+14G>A
|
rs761708348
|
0.00004
|
NM_000195.5(HPS1):c.1977C>T (p.Thr659=)
|
rs751349303
|
0.00004
|
NM_000195.5(HPS1):c.389T>C (p.Ile130Thr)
|
rs367640909
|
0.00004
|
NM_000204.5(CFI):c.1429+1G>C
|
rs368555424
|
0.00004
|
NM_000204.5(CFI):c.1532C>T (p.Ala511Val)
|
rs760801046
|
0.00004
|
NM_000204.5(CFI):c.559C>T (p.Arg187Ter)
|
rs368615806
|
0.00004
|
NM_000204.5(CFI):c.950G>A (p.Arg317Gln)
|
rs751111134
|
0.00004
|
NM_000211.5(ITGB2):c.1943C>T (p.Pro648Leu)
|
rs373963624
|
0.00004
|
NM_000211.5(ITGB2):c.221C>T (p.Ala74Val)
|
rs201354221
|
0.00004
|
NM_000211.5(ITGB2):c.57C>T (p.Cys19=)
|
rs533892661
|
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_000254.3(MTR):c.1542A>T (p.Arg514Ser)
|
rs200479834
|
0.00004
|
NM_000301.5(PLG):c.368C>T (p.Thr123Ile)
|
rs370856655
|
0.00004
|
NM_000312.4(PROC):c.534A>G (p.Ala178=)
|
rs368367611
|
0.00004
|
NM_000342.4(SLC4A1):c.*54A>G
|
rs758901858
|
0.00004
|
NM_000342.4(SLC4A1):c.1160G>A (p.Arg387Gln)
|
rs201280873
|
0.00004
|
NM_000342.4(SLC4A1):c.1800+17C>T
|
rs370756072
|
0.00004
|
NM_000361.3(THBD):c.277C>A (p.Pro93Thr)
|
rs754342536
|
0.00004
|
NM_000361.3(THBD):c.289G>A (p.Gly97Ser)
|
rs1239586434
|
0.00004
|
NM_000377.3(WAS):c.1150C>T (p.Pro384Ser)
|
rs782761074
|
0.00004
|
NM_000377.3(WAS):c.463+3G>C
|
rs1274245256
|
0.00004
|
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp)
|
rs137852331
|
0.00004
|
NM_000488.4(SERPINC1):c.1172G>A (p.Arg391Gln)
|
rs201541724
|
0.00004
|
NM_000488.4(SERPINC1):c.595G>A (p.Gly199Arg)
|
rs778341415
|
0.00004
|
NM_000517.6(HBA2):c.96-2A>G
|
rs41457746
|
0.00004
|
NM_000518.5(HBB):c.-137C>A
|
rs33941377
|
0.00004
|
NM_000546.6(TP53):c.460G>A (p.Gly154Ser)
|
rs137852789
|
0.00004
|
NM_000551.4(VHL):c.167C>G (p.Ala56Gly)
|
rs752980085
|
0.00004
|
NM_000551.4(VHL):c.420C>A (p.Leu140=)
|
rs369465430
|
0.00004
|
NM_000558.5(HBA1):c.358C>T (p.Pro120Ser)
|
rs63750751
|
0.00004
|
NM_000969.5(RPL5):c.-6C>T
|
rs199523145
|
0.00004
|
NM_001011.4(RPS7):c.285C>T (p.Ile95=)
|
rs368931076
|
0.00004
|
NM_001014.5(RPS10):c.204C>T (p.Tyr68=)
|
rs368563040
|
0.00004
|
NM_001014.5(RPS10):c.432T>G (p.Ala144=)
|
rs199758134
|
0.00004
|
NM_001018113.3(FANCB):c.1118A>G (p.Asp373Gly)
|
rs866138487
|
0.00004
|
NM_001018115.3(FANCD2):c.1265C>G (p.Ser422Cys)
|
rs765378218
|
0.00004
|
NM_001018115.3(FANCD2):c.1306C>A (p.Leu436Met)
|
rs373898927
|
0.00004
|
NM_001018115.3(FANCD2):c.1718T>C (p.Ile573Thr)
|
rs774801047
|
0.00004
|
NM_001018115.3(FANCD2):c.1810G>A (p.Asp604Asn)
|
rs145170666
|
0.00004
|
NM_001018115.3(FANCD2):c.2058G>A (p.Leu686=)
|
rs773593671
|
0.00004
|
NM_001018115.3(FANCD2):c.2380C>T (p.Arg794Ter)
|
rs755350165
|
0.00004
|
NM_001018115.3(FANCD2):c.256C>T (p.His86Tyr)
|
rs767659342
|
0.00004
|
NM_001018115.3(FANCD2):c.2741C>T (p.Thr914Ile)
|
rs764903036
|
0.00004
|
NM_001018115.3(FANCD2):c.2984G>A (p.Gly995Glu)
|
rs1479681259
|
0.00004
|
NM_001018115.3(FANCD2):c.3106-13T>G
|
rs759732362
|
0.00004
|
NM_001018115.3(FANCD2):c.3896G>A (p.Arg1299His)
|
rs781701459
|
0.00004
|
NM_001018115.3(FANCD2):c.4052C>T (p.Thr1351Met)
|
rs775898191
|
0.00004
|
NM_001018115.3(FANCD2):c.4281+107T>C
|
rs767893462
|
0.00004
|
NM_001018115.3(FANCD2):c.695+19A>G
|
rs369890094
|
0.00004
|
NM_001022.4(RPS19):c.72-17C>G
|
rs150151184
|
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_001081.4(CUBN):c.10327G>A (p.Glu3443Lys)
|
rs776263089
|
0.00004
|
NM_001081.4(CUBN):c.10363-3A>G
|
rs765943248
|
0.00004
|
NM_001081.4(CUBN):c.1719A>T (p.Leu573Phe)
|
rs148313915
|
0.00004
|
NM_001081.4(CUBN):c.2203G>A (p.Val735Ile)
|
rs370770104
|
0.00004
|
NM_001081.4(CUBN):c.3672+20C>T
|
rs762191994
|
0.00004
|
NM_001081.4(CUBN):c.3692G>A (p.Ser1231Asn)
|
rs150277370
|
0.00004
|
NM_001081.4(CUBN):c.4423A>G (p.Met1475Val)
|
rs1290241240
|
0.00004
|
NM_001081.4(CUBN):c.4621C>T (p.Arg1541Trp)
|
rs146824506
|
0.00004
|
NM_001081.4(CUBN):c.5357A>C (p.Glu1786Ala)
|
rs748558881
|
0.00004
|
NM_001081.4(CUBN):c.535G>A (p.Gly179Arg)
|
rs772400701
|
0.00004
|
NM_001081.4(CUBN):c.5467A>G (p.Ile1823Val)
|
rs946315516
|
0.00004
|
NM_001081.4(CUBN):c.5957A>T (p.Asp1986Val)
|
rs772570411
|
0.00004
|
NM_001081.4(CUBN):c.5964C>T (p.Pro1988=)
|
rs539618523
|
0.00004
|
NM_001081.4(CUBN):c.6462+19C>G
|
rs372356491
|
0.00004
|
NM_001081.4(CUBN):c.6822-6C>T
|
rs762758607
|
0.00004
|
NM_001081.4(CUBN):c.7976T>C (p.Val2659Ala)
|
rs1007248288
|
0.00004
|
NM_001081.4(CUBN):c.8617G>A (p.Glu2873Lys)
|
rs142519035
|
0.00004
|
NM_001081.4(CUBN):c.8701G>A (p.Val2901Ile)
|
rs201093611
|
0.00004
|
NM_001083116.3(PRF1):c.1228C>T (p.Arg410Trp)
|
rs139322149
|
0.00004
|
NM_001083116.3(PRF1):c.718C>T (p.Arg240Cys)
|
rs754850577
|
0.00004
|
NM_001113378.2(FANCI):c.157+7A>G
|
rs145165730
|
0.00004
|
NM_001113378.2(FANCI):c.1735G>A (p.Ala579Thr)
|
rs147963936
|
0.00004
|
NM_001113378.2(FANCI):c.1739A>G (p.Asn580Ser)
|
rs866290050
|
0.00004
|
NM_001113378.2(FANCI):c.1765G>A (p.Asp589Asn)
|
rs374176569
|
0.00004
|
NM_001113378.2(FANCI):c.1904A>G (p.Tyr635Cys)
|
rs764435343
|
0.00004
|
NM_001113378.2(FANCI):c.2183A>G (p.Asp728Gly)
|
rs752114490
|
0.00004
|
NM_001113378.2(FANCI):c.2334C>T (p.Tyr778=)
|
rs139857614
|
0.00004
|
NM_001113378.2(FANCI):c.2960C>T (p.Thr987Met)
|
rs138432305
|
0.00004
|
NM_001113378.2(FANCI):c.2992C>T (p.Pro998Ser)
|
rs182154506
|
0.00004
|
NM_001113378.2(FANCI):c.3056G>A (p.Arg1019Gln)
|
rs772401747
|
0.00004
|
NM_001113378.2(FANCI):c.993G>A (p.Lys331=)
|
rs146916445
|
0.00004
|
NM_001128227.3(GNE):c.18T>A (p.Tyr6Ter)
|
rs200763627
|
0.00004
|
NM_001164277.2(SLC37A4):c.1159A>G (p.Ile387Val)
|
rs782480303
|
0.00004
|
NM_001164277.2(SLC37A4):c.1243C>T (p.Arg415Ter)
|
rs121908979
|
0.00004
|
NM_001164277.2(SLC37A4):c.29G>A (p.Arg10His)
|
rs782500443
|
0.00004
|
NM_001164277.2(SLC37A4):c.590G>A (p.Arg197His)
|
rs377180238
|
0.00004
|
NM_001164277.2(SLC37A4):c.703G>T (p.Val235Leu)
|
rs141105181
|
0.00004
|
NM_001364905.1(LRBA):c.637A>G (p.Ser213Gly)
|
rs538370042
|
0.00004
|
NM_001375808.2(LPIN2):c.1375C>G (p.Leu459Val)
|
rs781705610
|
0.00004
|
NM_001386140.1(MTTP):c.1867+1G>A
|
rs764189338
|
0.00004
|
NM_001710.6(CFB):c.1374G>A (p.Met458Ile)
|
rs200837114
|
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_002473.6(MYH9):c.1686G>A (p.Leu562=)
|
rs199506577
|
0.00004
|
NM_002473.6(MYH9):c.2159+6C>T
|
rs748916231
|
0.00004
|
NM_002473.6(MYH9):c.2714G>A (p.Arg905His)
|
rs727503289
|
0.00004
|
NM_002473.6(MYH9):c.2838+19C>T
|
rs199611979
|
0.00004
|
NM_002473.6(MYH9):c.3022C>G (p.Leu1008Val)
|
rs535649291
|
0.00004
|
NM_002485.5(NBN):c.595C>T (p.Pro199Ser)
|
rs587780097
|
0.00004
|
NM_002485.5(NBN):c.683T>G (p.Ile228Arg)
|
rs777460725
|
0.00004
|
NM_002485.5(NBN):c.803C>T (p.Thr268Met)
|
rs535602436
|
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_003664.5(AP3B1):c.854A>G (p.Asp285Gly)
|
rs554863664
|
0.00004
|
NM_003921.5(BCL10):c.694C>T (p.Arg232Ter)
|
rs376302558
|
0.00004
|
NM_004629.2(FANCG):c.293G>A (p.Arg98Gln)
|
rs372854981
|
0.00004
|
NM_004629.2(FANCG):c.380G>A (p.Arg127His)
|
rs780985218
|
0.00004
|
NM_004629.2(FANCG):c.422G>A (p.Arg141His)
|
rs775719850
|
0.00004
|
NM_004629.2(FANCG):c.464G>A (p.Arg155His)
|
rs201099560
|
0.00004
|
NM_004629.2(FANCG):c.77A>G (p.Gln26Arg)
|
rs200677800
|
0.00004
|
NM_004629.2(FANCG):c.795A>T (p.Ala265=)
|
rs537570311
|
0.00004
|
NM_004985.5(KRAS):c.451-5652C>T
|
rs727505314
|
0.00004
|
NM_005050.4(ABCD4):c.362G>A (p.Arg121His)
|
rs201744101
|
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_005236.3(ERCC4):c.1830C>T (p.Tyr610=)
|
rs763332387
|
0.00004
|
NM_005236.3(ERCC4):c.2009G>A (p.Arg670Gln)
|
rs56129764
|
0.00004
|
NM_005263.5(GFI1):c.733T>C (p.Cys245Arg)
|
rs775151292
|
0.00004
|
NM_005334.3(HCFC1):c.4574C>T (p.Thr1525Ile)
|
rs782370174
|
0.00004
|
NM_005476.7(GNE):c.598A>T (p.Ile200Phe)
|
rs369328625
|
0.00004
|
NM_005476.7(GNE):c.647T>C (p.Val216Ala)
|
rs779694939
|
0.00004
|
NM_005957.5(MTHFR):c.1320G>A (p.Ser440=)
|
rs367585605
|
0.00004
|
NM_005957.5(MTHFR):c.155G>A (p.Arg52Gln)
|
rs754980119
|
0.00004
|
NM_006206.6(PDGFRA):c.1274A>G (p.His425Arg)
|
rs769631321
|
0.00004
|
NM_006206.6(PDGFRA):c.1970T>C (p.Ile657Thr)
|
rs969139366
|
0.00004
|
NM_006206.6(PDGFRA):c.838G>T (p.Ala280Ser)
|
rs150927351
|
0.00004
|
NM_006846.4(SPINK5):c.1540C>A (p.His514Asn)
|
rs189170702
|
0.00004
|
NM_007294.4(BRCA1):c.-19-3A>G
|
rs273898669
|
0.00004
|
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly)
|
rs28897672
|
0.00004
|
NM_007294.4(BRCA1):c.2286A>T (p.Arg762Ser)
|
rs273898682
|
0.00004
|
NM_007294.4(BRCA1):c.3758C>G (p.Ser1253Cys)
|
rs397509100
|
0.00004
|
NM_007294.4(BRCA1):c.427G>A (p.Glu143Lys)
|
rs80356991
|
0.00004
|
NM_007294.4(BRCA1):c.446A>C (p.Glu149Ala)
|
rs397507233
|
0.00004
|
NM_012388.4(BLOC1S6):c.131T>C (p.Ile44Thr)
|
rs374731803
|
0.00004
|
NM_012452.3(TNFRSF13B):c.214C>T (p.Arg72Cys)
|
rs375514495
|
0.00004
|
NM_015338.6(ASXL1):c.3621C>G (p.Val1207=)
|
rs781523302
|
0.00004
|
NM_015506.3(MMACHC):c.296T>C (p.Ile99Thr)
|
rs370229341
|
0.00004
|
NM_015506.3(MMACHC):c.402T>C (p.Asp134=)
|
rs774024065
|
0.00004
|
NM_015506.3(MMACHC):c.700T>C (p.Leu234=)
|
rs199964843
|
0.00004
|
NM_015506.3(MMACHC):c.88T>C (p.Trp30Arg)
|
rs745419717
|
0.00004
|
NM_018062.4(FANCL):c.375-15T>C
|
rs767038810
|
0.00004
|
NM_018062.4(FANCL):c.392C>T (p.Thr131Ile)
|
rs371154063
|
0.00004
|
NM_018062.4(FANCL):c.622G>A (p.Asp208Asn)
|
rs199564543
|
0.00004
|
NM_018062.4(FANCL):c.755T>G (p.Phe252Cys)
|
rs139801716
|
0.00004
|
NM_018389.5(SLC35C1):c.29G>A (p.Arg10Lys)
|
rs567155861
|
0.00004
|
NM_020937.4(FANCM):c.1192C>T (p.Arg398Trp)
|
rs752364451
|
0.00004
|
NM_020937.4(FANCM):c.1373T>C (p.Ile458Thr)
|
rs201596252
|
0.00004
|
NM_020937.4(FANCM):c.1528G>A (p.Gly510Ser)
|
rs146291619
|
0.00004
|
NM_020937.4(FANCM):c.1752G>A (p.Arg584=)
|
rs373696744
|
0.00004
|
NM_020937.4(FANCM):c.1960C>T (p.Arg654Trp)
|
rs112784867
|
0.00004
|
NM_020937.4(FANCM):c.2017A>C (p.Ser673Arg)
|
rs756249141
|
0.00004
|
NM_020937.4(FANCM):c.2158C>T (p.Pro720Ser)
|
rs751262177
|
0.00004
|
NM_020937.4(FANCM):c.231C>T (p.Thr77=)
|
rs377164876
|
0.00004
|
NM_020937.4(FANCM):c.3083A>T (p.His1028Leu)
|
rs774142261
|
0.00004
|
NM_020937.4(FANCM):c.3147A>C (p.Leu1049Phe)
|
rs147299864
|
0.00004
|
NM_020937.4(FANCM):c.3473C>T (p.Ser1158Phe)
|
rs952413457
|
0.00004
|
NM_020937.4(FANCM):c.3827C>T (p.Ser1276Leu)
|
rs753876341
|
0.00004
|
NM_020937.4(FANCM):c.3882T>C (p.Val1294=)
|
rs774984454
|
0.00004
|
NM_020937.4(FANCM):c.3938G>C (p.Ser1313Thr)
|
rs771311008
|
0.00004
|
NM_020937.4(FANCM):c.4222+5G>A
|
rs201544504
|
0.00004
|
NM_020937.4(FANCM):c.496G>A (p.Ala166Thr)
|
rs369365858
|
0.00004
|
NM_020937.4(FANCM):c.5117A>C (p.Asn1706Thr)
|
rs767619000
|
0.00004
|
NM_020937.4(FANCM):c.875C>T (p.Pro292Leu)
|
rs781381334
|
0.00004
|
NM_021871.4(FGA):c.923G>A (p.Arg308Gln)
|
rs760992799
|
0.00004
|
NM_021922.3(FANCE):c.1027C>T (p.Arg343Trp)
|
rs567313440
|
0.00004
|
NM_021922.3(FANCE):c.1189C>A (p.Pro397Thr)
|
rs759782690
|
0.00004
|
NM_021922.3(FANCE):c.356A>C (p.Gln119Pro)
|
rs781123077
|
0.00004
|
NM_021922.3(FANCE):c.869G>A (p.Arg290Lys)
|
rs747078723
|
0.00004
|
NM_021922.3(FANCE):c.952G>A (p.Glu318Lys)
|
rs754914337
|
0.00004
|
NM_021922.3(FANCE):c.983G>C (p.Cys328Ser)
|
rs372935921
|
0.00004
|
NM_022725.4(FANCF):c.446A>G (p.Asn149Ser)
|
rs377309460
|
0.00004
|
NM_024675.4(PALB2):c.1316G>T (p.Gly439Val)
|
rs537258442
|
0.00004
|
NM_024675.4(PALB2):c.1637T>C (p.Val546Ala)
|
rs148647206
|
0.00004
|
NM_024675.4(PALB2):c.2557G>A (p.Gly853Ser)
|
rs587782579
|
0.00004
|
NM_024675.4(PALB2):c.2834+13C>A
|
rs551516577
|
0.00004
|
NM_024675.4(PALB2):c.3247G>A (p.Glu1083Lys)
|
rs747785029
|
0.00004
|
NM_024675.4(PALB2):c.3252G>A (p.Ser1084=)
|
rs141570833
|
0.00004
|
NM_024675.4(PALB2):c.900A>G (p.Thr300=)
|
rs771660444
|
0.00004
|
NM_030943.4(AMN):c.1176G>A (p.Arg392=)
|
rs1052377523
|
0.00004
|
NM_030943.4(AMN):c.208-2A>G
|
rs386834170
|
0.00004
|
NM_032444.4(SLX4):c.1216G>C (p.Glu406Gln)
|
rs779596439
|
0.00004
|
NM_032444.4(SLX4):c.1271C>T (p.Ala424Val)
|
rs551823420
|
0.00004
|
NM_032444.4(SLX4):c.1583G>A (p.Ser528Asn)
|
rs752899329
|
0.00004
|
NM_032444.4(SLX4):c.1764C>T (p.His588=)
|
rs201638593
|
0.00004
|
NM_032444.4(SLX4):c.1824G>A (p.Glu608=)
|
rs1028896815
|
0.00004
|
NM_032444.4(SLX4):c.1846G>A (p.Val616Met)
|
rs199863797
|
0.00004
|
NM_032444.4(SLX4):c.1873G>A (p.Ala625Thr)
|
rs200755122
|
0.00004
|
NM_032444.4(SLX4):c.2023G>A (p.Gly675Arg)
|
rs767473953
|
0.00004
|
NM_032444.4(SLX4):c.2864A>G (p.His955Arg)
|
rs143694260
|
0.00004
|
NM_032444.4(SLX4):c.3190G>A (p.Gly1064Arg)
|
rs142079276
|
0.00004
|
NM_032444.4(SLX4):c.3439G>A (p.Glu1147Lys)
|
rs974413437
|
0.00004
|
NM_032444.4(SLX4):c.3622C>G (p.Pro1208Ala)
|
rs752941190
|
0.00004
|
NM_032444.4(SLX4):c.3668C>T (p.Pro1223Leu)
|
rs376133540
|
0.00004
|
NM_032444.4(SLX4):c.3746G>A (p.Ser1249Asn)
|
rs372991604
|
0.00004
|
NM_032444.4(SLX4):c.3781C>T (p.Pro1261Ser)
|
rs141860134
|
0.00004
|
NM_032444.4(SLX4):c.3850G>A (p.Val1284Met)
|
rs373107728
|
0.00004
|
NM_032444.4(SLX4):c.3950C>T (p.Pro1317Leu)
|
rs375172024
|
0.00004
|
NM_032444.4(SLX4):c.4034G>A (p.Arg1345His)
|
rs757202686
|
0.00004
|
NM_032444.4(SLX4):c.4267A>G (p.Ile1423Val)
|
rs953994627
|
0.00004
|
NM_032444.4(SLX4):c.4268T>C (p.Ile1423Thr)
|
rs1056055996
|
0.00004
|
NM_032444.4(SLX4):c.4301C>T (p.Ser1434Leu)
|
rs776332160
|
0.00004
|
NM_032444.4(SLX4):c.4390A>G (p.Ser1464Gly)
|
rs750635051
|
0.00004
|
NM_032444.4(SLX4):c.4456A>C (p.Arg1486=)
|
rs200536796
|
0.00004
|
NM_032444.4(SLX4):c.4740-5G>A
|
rs372656323
|
0.00004
|
NM_032444.4(SLX4):c.4765C>T (p.Arg1589Cys)
|
rs181782315
|
0.00004
|
NM_032444.4(SLX4):c.4871C>T (p.Pro1624Leu)
|
rs751763192
|
0.00004
|
NM_032444.4(SLX4):c.499G>A (p.Glu167Lys)
|
rs151018140
|
0.00004
|
NM_032444.4(SLX4):c.5141T>G (p.Leu1714Trp)
|
rs569861974
|
0.00004
|
NM_032444.4(SLX4):c.5291C>T (p.Pro1764Leu)
|
rs1031274414
|
0.00004
|
NM_032444.4(SLX4):c.5336G>A (p.Arg1779Gln)
|
rs780261532
|
0.00004
|
NM_032444.4(SLX4):c.5382G>A (p.Ser1794=)
|
rs368848191
|
0.00004
|
NM_032444.4(SLX4):c.5404G>A (p.Asp1802Asn)
|
rs760435859
|
0.00004
|
NM_032444.4(SLX4):c.734C>T (p.Pro245Leu)
|
rs199929086
|
0.00004
|
NM_058216.3(RAD51C):c.1062A>G (p.Ala354=)
|
rs201000407
|
0.00004
|
NM_058216.3(RAD51C):c.546T>G (p.Leu182=)
|
rs1476282276
|
0.00004
|
NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter)
|
rs200293302
|
0.00004
|
NM_058216.3(RAD51C):c.635G>A (p.Arg212His)
|
rs200857129
|
0.00004
|
NM_058216.3(RAD51C):c.721G>A (p.Val241Met)
|
rs184033132
|
0.00004
|
NM_080669.6(SLC46A1):c.341G>T (p.Arg114Leu)
|
rs369959215
|
0.00004
|
NM_139027.6(ADAMTS13):c.2089G>A (p.Val697Met)
|
rs367818172
|
0.00004
|
NM_139027.6(ADAMTS13):c.3159G>A (p.Ala1053=)
|
rs200349242
|
0.00004
|
NM_139027.6(ADAMTS13):c.3179G>A (p.Arg1060Gln)
|
rs587731517
|
0.00004
|
NM_139027.6(ADAMTS13):c.3431C>A (p.Thr1144Lys)
|
rs141056078
|
0.00004
|
NM_139027.6(ADAMTS13):c.539+6C>T
|
rs782661001
|
0.00004
|
NM_152564.5(VPS13B):c.11434C>T (p.Arg3812Cys)
|
rs369891888
|
0.00004
|
NM_152564.5(VPS13B):c.2234C>T (p.Thr745Met)
|
rs199574731
|
0.00004
|
NM_152564.5(VPS13B):c.2248A>G (p.Ser750Gly)
|
rs112858205
|
0.00004
|
NM_152564.5(VPS13B):c.4396G>T (p.Glu1466Ter)
|
rs120074151
|
0.00004
|
NM_152564.5(VPS13B):c.6311C>T (p.Ser2104Phe)
|
rs374298481
|
0.00004
|
NM_152564.5(VPS13B):c.9593G>A (p.Arg3198Gln)
|
rs544366805
|
0.00004
|
NM_172351.3(CD46):c.286+2T>G
|
rs769742294
|
0.00004
|
NM_182916.3(TRNT1):c.567G>T (p.Gln189His)
|
rs760683285
|
0.00004
|
NM_182916.3(TRNT1):c.829G>T (p.Glu277Ter)
|
rs370699359
|
0.00004
|
NM_182916.3(TRNT1):c.900C>A (p.Phe300Leu)
|
rs376431679
|
0.00004
|
NM_198253.3(TERT):c.3329C>T (p.Thr1110Met)
|
rs199422306
|
0.00004
|
NC_000011.10:g.5227172G>A
|
rs63751208
|
0.00003
|
NM_000057.4(BLM):c.3210+2del
|
rs587779886
|
0.00003
|
NM_000057.4(BLM):c.4112C>T (p.Thr1371Met)
|
rs587779891
|
0.00003
|
NM_000057.4(BLM):c.98+1G>C
|
rs750293380
|
0.00003
|
NM_000059.4(BRCA2):c.4357A>G (p.Lys1453Glu)
|
rs397507330
|
0.00003
|
NM_000059.4(BRCA2):c.6935A>T (p.Asp2312Val)
|
rs80358916
|
0.00003
|
NM_000059.4(BRCA2):c.9235del (p.Val3079fs)
|
rs397507422
|
0.00003
|
NM_000064.4(C3):c.3702C>T (p.Ser1234=)
|
rs754607975
|
0.00003
|
NM_000064.4(C3):c.4029G>A (p.Ser1343=)
|
rs190354796
|
0.00003
|
NM_000064.4(C3):c.4177C>T (p.Arg1393Trp)
|
rs148227405
|
0.00003
|
NM_000064.4(C3):c.4350+7C>A
|
rs148695501
|
0.00003
|
NM_000064.4(C3):c.4457-13C>T
|
rs375382978
|
0.00003
|
NM_000064.4(C3):c.4546+18G>A
|
rs377076572
|
0.00003
|
NM_000064.4(C3):c.4906G>C (p.Glu1636Gln)
|
rs139388954
|
0.00003
|
NM_000081.4(LYST):c.1996A>G (p.Ser666Gly)
|
rs140284566
|
0.00003
|
NM_000081.4(LYST):c.6718C>T (p.His2240Tyr)
|
rs186152859
|
0.00003
|
NM_000128.4(F11):c.1107C>A (p.Tyr369Ter)
|
rs773905328
|
0.00003
|
NM_000128.4(F11):c.1489C>T (p.Arg497Ter)
|
rs375422404
|
0.00003
|
NM_000128.4(F11):c.1683C>T (p.Ala561=)
|
rs770473069
|
0.00003
|
NM_000128.4(F11):c.3G>T (p.Met1Ile)
|
rs755700350
|
0.00003
|
NM_000132.4(F8):c.6871A>G (p.Thr2291Ala)
|
rs139348729
|
0.00003
|
NM_000135.4(FANCA):c.1046C>T (p.Ala349Val)
|
rs142620413
|
0.00003
|
NM_000135.4(FANCA):c.12G>C (p.Ser4=)
|
rs1009539881
|
0.00003
|
NM_000135.4(FANCA):c.1574T>C (p.Ile525Thr)
|
rs752323052
|
0.00003
|
NM_000135.4(FANCA):c.1738G>A (p.Val580Met)
|
rs769158149
|
0.00003
|
NM_000135.4(FANCA):c.1772G>A (p.Arg591Gln)
|
rs778093769
|
0.00003
|
NM_000135.4(FANCA):c.1964C>G (p.Ala655Gly)
|
rs1306842168
|
0.00003
|
NM_000135.4(FANCA):c.2171C>T (p.Thr724Met)
|
rs777032467
|
0.00003
|
NM_000135.4(FANCA):c.2964G>C (p.Leu988=)
|
rs751495133
|
0.00003
|
NM_000135.4(FANCA):c.3184G>A (p.Gly1062Arg)
|
rs142379991
|
0.00003
|
NM_000135.4(FANCA):c.3349-19G>T
|
rs377180908
|
0.00003
|
NM_000135.4(FANCA):c.344G>A (p.Gly115Glu)
|
rs748263867
|
0.00003
|
NM_000135.4(FANCA):c.3610C>T (p.Arg1204Trp)
|
rs759303096
|
0.00003
|
NM_000135.4(FANCA):c.3627-9C>T
|
rs547300201
|
0.00003
|
NM_000135.4(FANCA):c.4121G>T (p.Ser1374Ile)
|
rs1254151716
|
0.00003
|
NM_000135.4(FANCA):c.426+13C>T
|
rs755598667
|
0.00003
|
NM_000135.4(FANCA):c.81G>A (p.Ala27=)
|
rs150247726
|
0.00003
|
NM_000136.3(FANCC):c.1262C>G (p.Ala421Gly)
|
rs863224608
|
0.00003
|
NM_000136.3(FANCC):c.127G>A (p.Glu43Lys)
|
rs374836770
|
0.00003
|
NM_000136.3(FANCC):c.1330-6G>T
|
rs1223668739
|
0.00003
|
NM_000136.3(FANCC):c.1363G>T (p.Ala455Ser)
|
rs730881724
|
0.00003
|
NM_000136.3(FANCC):c.191T>G (p.Phe64Cys)
|
rs375921240
|
0.00003
|
NM_000136.3(FANCC):c.521G>A (p.Arg174Gln)
|
rs755283850
|
0.00003
|
NM_000136.3(FANCC):c.734G>A (p.Arg245Gln)
|
rs889715188
|
0.00003
|
NM_000136.3(FANCC):c.990C>G (p.Ser330Arg)
|
rs374915316
|
0.00003
|
NM_000186.4(CFH):c.2868G>A (p.Thr956=)
|
rs533238588
|
0.00003
|
NM_000186.4(CFH):c.526T>C (p.Phe176Leu)
|
rs762132970
|
0.00003
|
NM_000186.4(CFH):c.647T>C (p.Ile216Thr)
|
rs183474263
|
0.00003
|
NM_000195.5(HPS1):c.1533-6C>T
|
rs751468611
|
0.00003
|
NM_000195.5(HPS1):c.2068C>T (p.Arg690Cys)
|
rs367656088
|
0.00003
|
NM_000195.5(HPS1):c.692C>T (p.Pro231Leu)
|
rs773953162
|
0.00003
|
NM_000204.5(CFI):c.1429+8T>C
|
rs184313022
|
0.00003
|
NM_000204.5(CFI):c.80_81del (p.Asp27fs)
|
rs886043418
|
0.00003
|
NM_000222.3(KIT):c.2881G>A (p.Gly961Ser)
|
rs773828910
|
0.00003
|
NM_000301.5(PLG):c.1394C>T (p.Pro465Leu)
|
rs374995543
|
0.00003
|
NM_000312.4(PROC):c.386G>A (p.Arg129His)
|
rs746190838
|
0.00003
|
NM_000313.4(PROS1):c.148A>G (p.Lys50Glu)
|
rs748630360
|
0.00003
|
NM_000313.4(PROS1):c.688G>A (p.Glu230Lys)
|
rs575777099
|
0.00003
|
NM_000342.4(SLC4A1):c.1311G>A (p.Val437=)
|
rs370089486
|
0.00003
|
NM_000342.4(SLC4A1):c.538C>T (p.Arg180Cys)
|
rs749020872
|
0.00003
|
NM_000342.4(SLC4A1):c.876+8A>G
|
rs750432041
|
0.00003
|
NM_000342.4(SLC4A1):c.877-3dup
|
rs747181893
|
0.00003
|
NM_000361.3(THBD):c.116A>T (p.Tyr39Phe)
|
rs776866172
|
0.00003
|
NM_000361.3(THBD):c.1614C>A (p.His538Gln)
|
rs1436540579
|
0.00003
|
NM_000377.3(WAS):c.1388C>T (p.Ser463Leu)
|
rs782636781
|
0.00003
|
NM_000377.3(WAS):c.339C>T (p.Phe113=)
|
rs782233413
|
0.00003
|
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr)
|
rs5030869
|
0.00003
|
NM_000419.5(ITGA2B):c.2511G>C (p.Gln837His)
|
rs377753373
|
0.00003
|
NM_000488.4(SERPINC1):c.100G>A (p.Gly34Arg)
|
rs773254902
|
0.00003
|
NM_000518.5(HBB):c.315+1G>A
|
rs33945777
|
0.00003
|
NM_000518.5(HBB):c.316-106C>G
|
rs34690599
|
0.00003
|
NM_000518.5(HBB):c.316-2A>G
|
rs33914668
|
0.00003
|
NM_000518.5(HBB):c.51del (p.Lys18fs)
|
rs35662066
|
0.00003
|
NM_000551.4(VHL):c.554A>G (p.Tyr185Cys)
|
rs561874453
|
0.00003
|
NM_000551.4(VHL):c.614G>A (p.Arg205His)
|
rs777130107
|
0.00003
|
NM_000552.5(VWF):c.3747T>C (p.Asp1249=)
|
rs200893595
|
0.00003
|
NM_000969.5(RPL5):c.269T>C (p.Val90Ala)
|
rs775952185
|
0.00003
|
NM_000969.5(RPL5):c.517A>G (p.Ile173Val)
|
rs754245145
|
0.00003
|
NM_000969.5(RPL5):c.599T>C (p.Met200Thr)
|
rs773325598
|
0.00003
|
NM_001006658.3(CR2):c.2156-16A>C
|
rs777216094
|
0.00003
|
NM_001006658.3(CR2):c.80C>T (p.Pro27Leu)
|
rs150906379
|
0.00003
|
NM_001011.4(RPS7):c.63C>T (p.Ser21=)
|
rs145376788
|
0.00003
|
NM_001014.5(RPS10):c.89C>T (p.Pro30Leu)
|
rs755445102
|
0.00003
|
NM_001018115.3(FANCD2):c.144T>A (p.Phe48Leu)
|
rs750534583
|
0.00003
|
NM_001018115.3(FANCD2):c.2372A>G (p.Asn791Ser)
|
rs758718558
|
0.00003
|
NM_001018115.3(FANCD2):c.2716-15G>A
|
rs771386311
|
0.00003
|
NM_001018115.3(FANCD2):c.2965C>G (p.Pro989Ala)
|
rs200568638
|
0.00003
|
NM_001018115.3(FANCD2):c.3466+9C>G
|
rs33998487
|
0.00003
|
NM_001018115.3(FANCD2):c.3524G>A (p.Ser1175Asn)
|
rs151316403
|
0.00003
|
NM_001018115.3(FANCD2):c.3973C>A (p.Leu1325Met)
|
rs555539811
|
0.00003
|
NM_001029.5(RPS26):c.181+10T>G
|
rs201191387
|
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.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_001081.4(CUBN):c.2318C>G (p.Thr773Ser)
|
rs200658389
|
0.00003
|
NM_001081.4(CUBN):c.2452G>A (p.Gly818Arg)
|
rs141274853
|
0.00003
|
NM_001081.4(CUBN):c.5355G>A (p.Leu1785=)
|
rs199509575
|
0.00003
|
NM_001081.4(CUBN):c.6088C>T (p.Arg2030Ter)
|
rs374417889
|
0.00003
|
NM_001081.4(CUBN):c.6277G>A (p.Gly2093Ser)
|
rs759351780
|
0.00003
|
NM_001081.4(CUBN):c.6962G>T (p.Ser2321Ile)
|
rs374628341
|
0.00003
|
NM_001081.4(CUBN):c.736G>A (p.Val246Ile)
|
rs760990753
|
0.00003
|
NM_001081.4(CUBN):c.7403A>G (p.Tyr2468Cys)
|
rs757744293
|
0.00003
|
NM_001083116.3(PRF1):c.98G>A (p.Arg33His)
|
rs531407289
|
0.00003
|
NM_001113378.2(FANCI):c.1102G>A (p.Val368Met)
|
rs1060501897
|
0.00003
|
NM_001113378.2(FANCI):c.1418T>G (p.Val473Gly)
|
rs200007225
|
0.00003
|
NM_001113378.2(FANCI):c.196C>T (p.Arg66Cys)
|
rs143105092
|
0.00003
|
NM_001113378.2(FANCI):c.2328G>A (p.Met776Ile)
|
rs781175970
|
0.00003
|
NM_001113378.2(FANCI):c.2349C>T (p.Asp783=)
|
rs768234660
|
0.00003
|
NM_001113378.2(FANCI):c.2519G>A (p.Arg840His)
|
rs777483611
|
0.00003
|
NM_001113378.2(FANCI):c.2627A>G (p.Asp876Gly)
|
rs545673916
|
0.00003
|
NM_001113378.2(FANCI):c.3116A>G (p.Tyr1039Cys)
|
rs138702591
|
0.00003
|
NM_001113378.2(FANCI):c.3622_3623del (p.Leu1208fs)
|
rs1491132258
|
0.00003
|
NM_001113378.2(FANCI):c.3812C>T (p.Ser1271Phe)
|
rs202066338
|
0.00003
|
NM_001113378.2(FANCI):c.601A>G (p.Met201Val)
|
rs774564150
|
0.00003
|
NM_001113378.2(FANCI):c.705C>T (p.Ala235=)
|
rs542117175
|
0.00003
|
NM_001142285.2(RPS24):c.526G>A (p.Val176Met)
|
rs558584969
|
0.00003
|
NM_001164277.2(SLC37A4):c.515C>T (p.Ser172Phe)
|
rs750732128
|
0.00003
|
NM_001164277.2(SLC37A4):c.544C>T (p.Leu182Phe)
|
rs775311483
|
0.00003
|
NM_001258392.3(CLPB):c.1159C>T (p.Arg387Ter)
|
rs200203460
|
0.00003
|
NM_001710.6(CFB):c.-3G>A
|
rs755016493
|
0.00003
|
NM_001754.5(RUNX1):c.787C>T (p.Pro263Ser)
|
rs370315332
|
0.00003
|
NM_002473.6(MYH9):c.1201G>A (p.Val401Ile)
|
rs369581570
|
0.00003
|
NM_002473.6(MYH9):c.193G>A (p.Val65Met)
|
rs377348805
|
0.00003
|
NM_002473.6(MYH9):c.3181A>T (p.Ser1061Cys)
|
rs199971000
|
0.00003
|
NM_002473.6(MYH9):c.4079C>G (p.Ala1360Gly)
|
rs373384951
|
0.00003
|
NM_002473.6(MYH9):c.4218C>T (p.Ala1406=)
|
rs142957635
|
0.00003
|
NM_002473.6(MYH9):c.4897C>T (p.Arg1633Trp)
|
rs757547632
|
0.00003
|
NM_002473.6(MYH9):c.5173C>T (p.Arg1725Trp)
|
rs547770783
|
0.00003
|
NM_002473.6(MYH9):c.5806C>T (p.Arg1936Trp)
|
rs727503281
|
0.00003
|
NM_002485.5(NBN):c.2215C>G (p.Leu739Val)
|
rs370058152
|
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_003467.3(CXCR4):c.250G>C (p.Asp84His)
|
rs368016542
|
0.00003
|
NM_003664.5(AP3B1):c.1075A>G (p.Thr359Ala)
|
rs148160411
|
0.00003
|
NM_004364.5(CEBPA):c.365G>A (p.Gly122Glu)
|
rs1311096326
|
0.00003
|
NM_004629.2(FANCG):c.1156C>G (p.Pro386Ala)
|
rs375757497
|
0.00003
|
NM_004629.2(FANCG):c.398C>T (p.Pro133Leu)
|
rs1270561172
|
0.00003
|
NM_004629.2(FANCG):c.730G>A (p.Val244Met)
|
rs746248064
|
0.00003
|
NM_004629.2(FANCG):c.934G>A (p.Val312Ile)
|
rs530535955
|
0.00003
|
NM_005026.5(PIK3CD):c.1242G>A (p.Ala414=)
|
rs758253493
|
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_005236.3(ERCC4):c.1577C>T (p.Pro526Leu)
|
rs149056863
|
0.00003
|
NM_005236.3(ERCC4):c.79C>T (p.Leu27Phe)
|
rs587778282
|
0.00003
|
NM_005236.3(ERCC4):c.934T>G (p.Ser312Ala)
|
rs200596978
|
0.00003
|
NM_005334.3(HCFC1):c.5206C>T (p.Leu1736=)
|
rs782368009
|
0.00003
|
NM_005373.3(MPL):c.212G>A (p.Arg71Gln)
|
rs368753117
|
0.00003
|
NM_005476.7(GNE):c.2044G>A (p.Val682Ile)
|
rs768384042
|
0.00003
|
NM_005476.7(GNE):c.527A>T (p.Asp176Val)
|
rs139425890
|
0.00003
|
NM_005476.7(GNE):c.737G>A (p.Arg246Gln)
|
rs121908629
|
0.00003
|
NM_005476.7(GNE):c.916C>T (p.Arg306Ter)
|
rs1057516374
|
0.00003
|
NM_005957.5(MTHFR):c.151C>T (p.Arg51Trp)
|
rs764131110
|
0.00003
|
NM_006363.6(SEC23B):c.367C>T (p.Arg123Ter)
|
rs775380378
|
0.00003
|
NM_006996.3(SLC19A2):c.487A>T (p.Ser163Cys)
|
rs548333207
|
0.00003
|
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter)
|
rs80357123
|
0.00003
|
NM_007294.4(BRCA1):c.68_69dup (p.Cys24fs)
|
rs80357914
|
0.00003
|
NM_012452.3(TNFRSF13B):c.693C>G (p.Ser231Arg)
|
rs145711865
|
0.00003
|
NM_013314.4(BLNK):c.275C>A (p.Ala92Asp)
|
rs201576692
|
0.00003
|
NM_015506.3(MMACHC):c.495G>A (p.Leu165=)
|
rs761111018
|
0.00003
|
NM_015506.3(MMACHC):c.666C>A (p.Tyr222Ter)
|
rs201266016
|
0.00003
|
NM_015506.3(MMACHC):c.82-10T>C
|
rs778416032
|
0.00003
|
NM_018062.4(FANCL):c.471+12G>A
|
rs369756342
|
0.00003
|
NM_020937.4(FANCM):c.1756G>C (p.Val586Leu)
|
rs775663650
|
0.00003
|
NM_020937.4(FANCM):c.2497G>A (p.Asp833Asn)
|
rs752560995
|
0.00003
|
NM_020937.4(FANCM):c.3544C>T (p.Leu1182Phe)
|
rs1180319315
|
0.00003
|
NM_020937.4(FANCM):c.4220A>G (p.Glu1407Gly)
|
rs946759727
|
0.00003
|
NM_020937.4(FANCM):c.4318-3T>G
|
rs367696095
|
0.00003
|
NM_020937.4(FANCM):c.4433G>A (p.Cys1478Tyr)
|
rs553521590
|
0.00003
|
NM_020937.4(FANCM):c.4578T>G (p.Val1526=)
|
rs368982372
|
0.00003
|
NM_020937.4(FANCM):c.4872T>G (p.Cys1624Trp)
|
rs919256712
|
0.00003
|
NM_020937.4(FANCM):c.5683T>C (p.Cys1895Arg)
|
rs148945714
|
0.00003
|
NM_020937.4(FANCM):c.56C>T (p.Ser19Leu)
|
rs201383385
|
0.00003
|
NM_020937.4(FANCM):c.6060G>A (p.Glu2020=)
|
rs949619907
|
0.00003
|
NM_020937.4(FANCM):c.6084T>C (p.Tyr2028=)
|
rs756119280
|
0.00003
|
NM_020937.4(FANCM):c.6139G>A (p.Asp2047Asn)
|
rs192079020
|
0.00003
|
NM_021922.3(FANCE):c.1092C>T (p.Thr364=)
|
rs776318917
|
0.00003
|
NM_021922.3(FANCE):c.1196G>A (p.Cys399Tyr)
|
rs1365782479
|
0.00003
|
NM_021922.3(FANCE):c.1349C>T (p.Thr450Ile)
|
rs201970876
|
0.00003
|
NM_021922.3(FANCE):c.329C>T (p.Pro110Leu)
|
rs371485747
|
0.00003
|
NM_021922.3(FANCE):c.592G>A (p.Gly198Arg)
|
rs747727711
|
0.00003
|
NM_022725.3(FANCF):c.-21A>G
|
rs751857151
|
0.00003
|
NM_022725.4(FANCF):c.101C>T (p.Ala34Val)
|
rs780228540
|
0.00003
|
NM_022725.4(FANCF):c.149G>C (p.Arg50Pro)
|
rs371420932
|
0.00003
|
NM_022725.4(FANCF):c.302G>C (p.Arg101Pro)
|
rs1423734778
|
0.00003
|
NM_022725.4(FANCF):c.364C>G (p.Arg122Gly)
|
rs759470099
|
0.00003
|
NM_022725.4(FANCF):c.67G>T (p.Val23Phe)
|
rs777143902
|
0.00003
|
NM_024598.4(USB1):c.1A>G (p.Met1Val)
|
rs760648279
|
0.00003
|
NM_024675.4(PALB2):c.110G>A (p.Arg37His)
|
rs202194596
|
0.00003
|
NM_024675.4(PALB2):c.1128T>G (p.Ser376Arg)
|
rs587780204
|
0.00003
|
NM_024675.4(PALB2):c.1272C>T (p.Ala424=)
|
rs754720030
|
0.00003
|
NM_024675.4(PALB2):c.1463G>T (p.Ser488Ile)
|
rs767926590
|
0.00003
|
NM_024675.4(PALB2):c.1756G>A (p.Asp586Asn)
|
rs587781954
|
0.00003
|
NM_024675.4(PALB2):c.1846G>C (p.Asp616His)
|
rs786201907
|
0.00003
|
NM_024675.4(PALB2):c.1882_1890del (p.Lys628_Cys630del)
|
rs587778583
|
0.00003
|
NM_024675.4(PALB2):c.2336C>T (p.Ser779Leu)
|
rs764509489
|
0.00003
|
NM_024675.4(PALB2):c.2730T>A (p.Tyr910Ter)
|
rs995629797
|
0.00003
|
NM_024675.4(PALB2):c.2897T>C (p.Ile966Thr)
|
rs587780214
|
0.00003
|
NM_024675.4(PALB2):c.3146T>C (p.Met1049Thr)
|
rs138273800
|
0.00003
|
NM_024675.4(PALB2):c.3296C>G (p.Thr1099Arg)
|
rs142132127
|
0.00003
|
NM_024747.6(HPS6):c.1A>G (p.Met1Val)
|
rs763073715
|
0.00003
|
NM_030943.4(AMN):c.1179G>A (p.Arg393=)
|
rs1434288624
|
0.00003
|
NM_030943.4(AMN):c.448T>C (p.Phe150Leu)
|
rs1039668619
|
0.00003
|
NM_030943.4(AMN):c.811C>T (p.Arg271Trp)
|
rs765147150
|
0.00003
|
NM_032043.3(BRIP1):c.1372G>T (p.Glu458Ter)
|
rs587780228
|
0.00003
|
NM_032043.3(BRIP1):c.1619A>T (p.Gln540Leu)
|
rs4988349
|
0.00003
|
NM_032043.3(BRIP1):c.2285G>A (p.Arg762His)
|
rs200960251
|
0.00003
|
NM_032043.3(BRIP1):c.2469G>T (p.Arg823Ser)
|
rs587780239
|
0.00003
|
NM_032043.3(BRIP1):c.2543G>A (p.Arg848His)
|
rs374334794
|
0.00003
|
NM_032043.3(BRIP1):c.3730_3731del (p.Met1244fs)
|
rs730881646
|
0.00003
|
NM_032444.4(SLX4):c.1077G>T (p.Lys359Asn)
|
rs149470704
|
0.00003
|
NM_032444.4(SLX4):c.1169G>T (p.Ser390Ile)
|
rs775559576
|
0.00003
|
NM_032444.4(SLX4):c.1405C>G (p.Pro469Ala)
|
rs763833617
|
0.00003
|
NM_032444.4(SLX4):c.1547C>T (p.Ala516Val)
|
rs199683722
|
0.00003
|
NM_032444.4(SLX4):c.1749G>T (p.Arg583Ser)
|
rs374644679
|
0.00003
|
NM_032444.4(SLX4):c.1756G>A (p.Ala586Thr)
|
rs764210911
|
0.00003
|
NM_032444.4(SLX4):c.1786G>A (p.Gly596Ser)
|
rs144454312
|
0.00003
|
NM_032444.4(SLX4):c.2022C>T (p.Leu674=)
|
rs139900828
|
0.00003
|
NM_032444.4(SLX4):c.2065C>T (p.His689Tyr)
|
rs138124860
|
0.00003
|
NM_032444.4(SLX4):c.2449G>C (p.Glu817Gln)
|
rs143730668
|
0.00003
|
NM_032444.4(SLX4):c.3095C>T (p.Pro1032Leu)
|
rs200924744
|
0.00003
|
NM_032444.4(SLX4):c.3118C>T (p.Pro1040Ser)
|
rs201359490
|
0.00003
|
NM_032444.4(SLX4):c.3374A>G (p.Asp1125Gly)
|
rs186784513
|
0.00003
|
NM_032444.4(SLX4):c.349G>T (p.Ala117Ser)
|
rs775853263
|
0.00003
|
NM_032444.4(SLX4):c.3799C>T (p.Arg1267Cys)
|
rs201422743
|
0.00003
|
NM_032444.4(SLX4):c.4089_4090del (p.Asp1365fs)
|
rs748930384
|
0.00003
|
NM_032444.4(SLX4):c.4185C>T (p.Val1395=)
|
rs993089915
|
0.00003
|
NM_032444.4(SLX4):c.4186G>A (p.Gly1396Arg)
|
rs376437029
|
0.00003
|
NM_032444.4(SLX4):c.4367G>A (p.Arg1456His)
|
rs774858804
|
0.00003
|
NM_032444.4(SLX4):c.4387G>A (p.Asp1463Asn)
|
rs779970904
|
0.00003
|
NM_032444.4(SLX4):c.4508C>T (p.Pro1503Leu)
|
rs370637700
|
0.00003
|
NM_032444.4(SLX4):c.4599T>C (p.Ala1533=)
|
rs1320958776
|
0.00003
|
NM_032444.4(SLX4):c.4766G>A (p.Arg1589His)
|
rs746314060
|
0.00003
|
NM_032444.4(SLX4):c.485C>T (p.Thr162Met)
|
rs140876043
|
0.00003
|
NM_032444.4(SLX4):c.4873C>T (p.His1625Tyr)
|
rs145527531
|
0.00003
|
NM_032444.4(SLX4):c.5228C>T (p.Ser1743Leu)
|
rs144057906
|
0.00003
|
NM_032444.4(SLX4):c.709C>T (p.Arg237Trp)
|
rs199912910
|
0.00003
|
NM_032444.4(SLX4):c.922G>A (p.Val308Met)
|
rs775151113
|
0.00003
|
NM_032444.4(SLX4):c.929G>A (p.Arg310Gln)
|
rs759447034
|
0.00003
|
NM_032638.5(GATA2):c.1286G>C (p.Ser429Thr)
|
rs201155045
|
0.00003
|
NM_058216.3(RAD51C):c.1102C>T (p.Arg368Trp)
|
rs587780253
|
0.00003
|
NM_058216.3(RAD51C):c.121G>C (p.Val41Leu)
|
rs879254131
|
0.00003
|
NM_058216.3(RAD51C):c.705+14T>C
|
rs771168730
|
0.00003
|
NM_058216.3(RAD51C):c.905-19T>C
|
rs368114768
|
0.00003
|
NM_058216.3(RAD51C):c.970G>A (p.Ala324Thr)
|
rs777575172
|
0.00003
|
NM_080669.6(SLC46A1):c.1258T>C (p.Phe420Leu)
|
rs1337596788
|
0.00003
|
NM_139027.6(ADAMTS13):c.587C>T (p.Thr196Ile)
|
rs121908470
|
0.00003
|
NM_152564.5(VPS13B):c.9425T>C (p.Met3142Thr)
|
rs1044976516
|
0.00003
|
NM_181507.2(HPS5):c.1536G>A (p.Met512Ile)
|
rs139349345
|
0.00003
|
NM_181507.2(HPS5):c.3059-10G>A
|
rs764418389
|
0.00003
|
NM_181523.3(PIK3R1):c.961G>A (p.Gly321Ser)
|
rs142439210
|
0.00003
|
NM_182916.3(TRNT1):c.826G>A (p.Glu276Lys)
|
rs766270526
|
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.863C>T (p.Ala288Val)
|
rs774657340
|
0.00003
|
NM_206965.2(FTCD):c.763C>T (p.Arg255Ter)
|
rs140217223
|
0.00003
|
NR_001566.3(TERC):n.37A>G
|
rs199422261
|
0.00003
|
NM_000057.4(BLM):c.2552A>G (p.Gln851Arg)
|
rs1454270314
|
0.00002
|
NM_000057.4(BLM):c.3028del (p.Asp1010fs)
|
rs780379121
|
0.00002
|
NM_000057.4(BLM):c.3751G>C (p.Glu1251Gln)
|
rs587779888
|
0.00002
|
NM_000057.4(BLM):c.488C>T (p.Ser163Phe)
|
rs745819553
|
0.00002
|
NM_000059.4(BRCA2):c.1538A>G (p.Lys513Arg)
|
rs28897709
|
0.00002
|
NM_000059.4(BRCA2):c.3835A>G (p.Asn1279Asp)
|
rs80358626
|
0.00002
|
NM_000059.4(BRCA2):c.5220A>C (p.Leu1740Phe)
|
rs750671399
|
0.00002
|
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter)
|
rs80358785
|
0.00002
|
NM_000059.4(BRCA2):c.7360A>T (p.Ile2454Phe)
|
rs876660249
|
0.00002
|
NM_000059.4(BRCA2):c.7986G>A (p.Thr2662=)
|
rs1057522378
|
0.00002
|
NM_000059.4(BRCA2):c.8331+3A>C
|
rs876659382
|
0.00002
|
NM_000059.4(BRCA2):c.9294C>G (p.Tyr3098Ter)
|
rs80359200
|
0.00002
|
NM_000064.4(C3):c.1479+13C>G
|
rs368352750
|
0.00002
|
NM_000064.4(C3):c.1835C>T (p.Thr612Met)
|
rs201572752
|
0.00002
|
NM_000064.4(C3):c.283G>A (p.Glu95Lys)
|
rs746332934
|
0.00002
|
NM_000064.4(C3):c.3015G>T (p.Val1005=)
|
rs1340489185
|
0.00002
|
NM_000064.4(C3):c.3647-13A>G
|
rs760807491
|
0.00002
|
NM_000064.4(C3):c.4484C>T (p.Pro1495Leu)
|
rs368362113
|
0.00002
|
NM_000081.4(LYST):c.2870T>C (p.Met957Thr)
|
rs201554916
|
0.00002
|
NM_000128.4(F11):c.325+5G>T
|
rs372102736
|
0.00002
|
NM_000132.4(F8):c.2149C>T (p.Arg717Trp)
|
rs137852435
|
0.00002
|
NM_000135.4(FANCA):c.1004A>C (p.Lys335Thr)
|
rs752532498
|
0.00002
|
NM_000135.4(FANCA):c.1007-3C>T
|
rs557382436
|
0.00002
|
NM_000135.4(FANCA):c.1038G>C (p.Trp346Cys)
|
rs750257902
|
0.00002
|
NM_000135.4(FANCA):c.1048C>T (p.Arg350Trp)
|
rs150290184
|
0.00002
|
NM_000135.4(FANCA):c.1087T>C (p.Phe363Leu)
|
rs531100141
|
0.00002
|
NM_000135.4(FANCA):c.1114G>T (p.Val372Phe)
|
rs982286482
|
0.00002
|
NM_000135.4(FANCA):c.1219C>G (p.Leu407Val)
|
rs748005916
|
0.00002
|
NM_000135.4(FANCA):c.1236G>A (p.Ala412=)
|
rs371993688
|
0.00002
|
NM_000135.4(FANCA):c.1237C>T (p.Arg413Cys)
|
rs780135578
|
0.00002
|
NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys)
|
rs148473140
|
0.00002
|
NM_000135.4(FANCA):c.1331C>T (p.Ala444Val)
|
rs144234991
|
0.00002
|
NM_000135.4(FANCA):c.1477A>G (p.Ile493Val)
|
rs762828757
|
0.00002
|
NM_000135.4(FANCA):c.1558G>C (p.Asp520His)
|
rs754123446
|
0.00002
|
NM_000135.4(FANCA):c.1566+6C>G
|
rs886939126
|
0.00002
|
NM_000135.4(FANCA):c.1702G>A (p.Val568Ile)
|
rs778754162
|
0.00002
|
NM_000135.4(FANCA):c.1777-1G>C
|
rs755104393
|
0.00002
|
NM_000135.4(FANCA):c.1781C>A (p.Pro594His)
|
rs780295697
|
0.00002
|
NM_000135.4(FANCA):c.2094G>C (p.Glu698Asp)
|
rs201672093
|
0.00002
|
NM_000135.4(FANCA):c.2109G>C (p.Gln703His)
|
rs371458363
|
0.00002
|
NM_000135.4(FANCA):c.2123C>T (p.Thr708Met)
|
rs775960094
|
0.00002
|
NM_000135.4(FANCA):c.2151+20A>G
|
rs374555419
|
0.00002
|
NM_000135.4(FANCA):c.2395C>T (p.Pro799Ser)
|
rs762439008
|
0.00002
|
NM_000135.4(FANCA):c.28G>A (p.Ala10Thr)
|
rs965036018
|
0.00002
|
NM_000135.4(FANCA):c.2923G>A (p.Gly975Arg)
|
rs369565161
|
0.00002
|
NM_000135.4(FANCA):c.2968G>A (p.Asp990Asn)
|
rs1060501883
|
0.00002
|
NM_000135.4(FANCA):c.3181A>G (p.Ser1061Gly)
|
rs369878171
|
0.00002
|
NM_000135.4(FANCA):c.3197C>T (p.Ala1066Val)
|
rs1419279017
|
0.00002
|
NM_000135.4(FANCA):c.3316G>A (p.Glu1106Lys)
|
rs777825824
|
0.00002
|
NM_000135.4(FANCA):c.3361T>C (p.Ser1121Pro)
|
rs977982480
|
0.00002
|
NM_000135.4(FANCA):c.3575C>T (p.Pro1192Leu)
|
rs780078373
|
0.00002
|
NM_000135.4(FANCA):c.3627-17C>T
|
rs754751562
|
0.00002
|
NM_000135.4(FANCA):c.4037C>T (p.Ala1346Val)
|
rs201886956
|
0.00002
|
NM_000135.4(FANCA):c.4218A>T (p.Leu1406Phe)
|
rs752245802
|
0.00002
|
NM_000135.4(FANCA):c.4294G>T (p.Val1432Leu)
|
rs769243354
|
0.00002
|
NM_000135.4(FANCA):c.4331_4332del (p.Pro1444fs)
|
rs1030509993
|
0.00002
|
NM_000135.4(FANCA):c.559G>A (p.Val187Ile)
|
rs761538996
|
0.00002
|
NM_000135.4(FANCA):c.57G>C (p.Arg19=)
|
rs930955916
|
0.00002
|
NM_000135.4(FANCA):c.6C>G (p.Ser2=)
|
rs982258436
|
0.00002
|
NM_000135.4(FANCA):c.701T>C (p.Met234Thr)
|
rs145869646
|
0.00002
|
NM_000135.4(FANCA):c.778G>A (p.Glu260Lys)
|
rs201992220
|
0.00002
|
NM_000135.4(FANCA):c.888G>A (p.Arg296=)
|
rs942855447
|
0.00002
|
NM_000136.3(FANCC):c.1575T>G (p.Phe525Leu)
|
rs587779901
|
0.00002
|
NM_000136.3(FANCC):c.165+17A>G
|
rs1046183823
|
0.00002
|
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro)
|
rs104886458
|
0.00002
|
NM_000136.3(FANCC):c.1672G>T (p.Val558Phe)
|
rs758866109
|
0.00002
|
NM_000136.3(FANCC):c.233C>A (p.Pro78His)
|
rs138722298
|
0.00002
|
NM_000136.3(FANCC):c.565C>G (p.Pro189Ala)
|
rs377620735
|
0.00002
|
NM_000136.3(FANCC):c.620A>T (p.His207Leu)
|
rs202038890
|
0.00002
|
NM_000136.3(FANCC):c.652G>C (p.Glu218Gln)
|
rs752339229
|
0.00002
|
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter)
|
rs377294947
|
0.00002
|
NM_000186.4(CFH):c.122C>T (p.Thr41Ile)
|
rs1192717326
|
0.00002
|
NM_000186.4(CFH):c.1873G>T (p.Glu625Ter)
|
rs150694809
|
0.00002
|
NM_000186.4(CFH):c.2456A>G (p.Asn819Ser)
|
rs781393769
|
0.00002
|
NM_000186.4(CFH):c.906C>G (p.Thr302=)
|
rs148552495
|
0.00002
|
NM_000188.3(HK1):c.949G>A (p.Gly317Ser)
|
rs202028638
|
0.00002
|
NM_000195.5(HPS1):c.1050G>T (p.Arg350Ser)
|
rs748998125
|
0.00002
|
NM_000195.5(HPS1):c.1857+2T>C
|
rs374689398
|
0.00002
|
NM_000195.5(HPS1):c.2052C>T (p.Ala684=)
|
rs576260502
|
0.00002
|
NM_000195.5(HPS1):c.355del (p.His119fs)
|
rs281865075
|
0.00002
|
NM_000195.5(HPS1):c.940A>G (p.Ser314Gly)
|
rs979661361
|
0.00002
|
NM_000204.5(CFI):c.1063G>A (p.Val355Met)
|
rs1250103299
|
0.00002
|
NM_000204.5(CFI):c.1378C>T (p.Leu460=)
|
rs1026187949
|
0.00002
|
NM_000204.5(CFI):c.205A>G (p.Lys69Glu)
|
rs771325547
|
0.00002
|
NM_000204.5(CFI):c.530A>T (p.Asn177Ile)
|
rs753060374
|
0.00002
|
NM_000204.5(CFI):c.546A>G (p.Leu182=)
|
rs992376160
|
0.00002
|
NM_000204.5(CFI):c.773-3C>T
|
rs375483832
|
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_000298.6(PKLR):c.721G>T (p.Glu241Ter)
|
rs201953584
|
0.00002
|
NM_000301.5(PLG):c.17T>C (p.Val6Ala)
|
rs764121149
|
0.00002
|
NM_000312.4(PROC):c.160A>T (p.Ser54Cys)
|
rs376049280
|
0.00002
|
NM_000312.4(PROC):c.169C>T (p.Arg57Trp)
|
rs757583846
|
0.00002
|
NM_000313.4(PROS1):c.200A>C (p.Glu67Ala)
|
rs766423432
|
0.00002
|
NM_000342.3(SLC4A1):c.-62G>A
|
rs387906565
|
0.00002
|
NM_000342.4(SLC4A1):c.2102G>A (p.Gly701Asp)
|
rs121912748
|
0.00002
|
NM_000342.4(SLC4A1):c.2204C>T (p.Ala735Val)
|
rs748087778
|
0.00002
|
NM_000342.4(SLC4A1):c.464G>A (p.Arg155Gln)
|
rs750879183
|
0.00002
|
NM_000355.4(TCN2):c.859C>T (p.Leu287Phe)
|
rs369458782
|
0.00002
|
NM_000361.3(THBD):c.1678G>C (p.Glu560Gln)
|
rs201487514
|
0.00002
|
NM_000361.3(THBD):c.415G>T (p.Ala139Ser)
|
rs982068192
|
0.00002
|
NM_000377.3(WAS):c.420C>T (p.Leu140=)
|
rs782639067
|
0.00002
|
NM_000377.3(WAS):c.802C>T (p.Arg268Trp)
|
rs782149318
|
0.00002
|
NM_000377.3(WAS):c.975G>C (p.Gln325His)
|
rs930931192
|
0.00002
|
NM_000397.4(CYBB):c.662T>C (p.Ile221Thr)
|
rs782096963
|
0.00002
|
NM_000489.6(ATRX):c.6887A>G (p.Asn2296Ser)
|
rs782274478
|
0.00002
|
NM_000517.6(HBA2):c.*92A>G
|
rs63750067
|
0.00002
|
NM_000518.5(HBB):c.20del (p.Glu7fs)
|
rs63749819
|
0.00002
|
NM_000518.5(HBB):c.262A>C (p.Thr88Pro)
|
rs35553496
|
0.00002
|
NM_000518.5(HBB):c.52A>T (p.Lys18Ter)
|
rs33986703
|
0.00002
|
NM_000546.6(TP53):c.-12C>T
|
rs375229869
|
0.00002
|
NM_000551.4(VHL):c.267C>A (p.Leu89=)
|
rs755794553
|
0.00002
|
NM_000551.4(VHL):c.31G>C (p.Ala11Pro)
|
rs1236604706
|
0.00002
|
NM_000551.4(VHL):c.323G>A (p.Arg108His)
|
rs367594943
|
0.00002
|
NM_000551.4(VHL):c.439A>G (p.Ile147Val)
|
rs1057517560
|
0.00002
|
NM_000969.5(RPL5):c.794+8G>A
|
rs907325546
|
0.00002
|
NM_000975.5(RPL11):c.452T>C (p.Ile151Thr)
|
rs754966145
|
0.00002
|
NM_001018113.3(FANCB):c.199A>G (p.Ile67Val)
|
rs761346761
|
0.00002
|
NM_001018113.3(FANCB):c.2385T>C (p.Ser795=)
|
rs1034395123
|
0.00002
|
NM_001018115.3(FANCD2):c.1027A>G (p.Ile343Val)
|
rs993692917
|
0.00002
|
NM_001018115.3(FANCD2):c.1766+3A>G
|
rs758140679
|
0.00002
|
NM_001018115.3(FANCD2):c.2751A>G (p.Leu917=)
|
rs766286504
|
0.00002
|
NM_001018115.3(FANCD2):c.310A>G (p.Ile104Val)
|
rs774299094
|
0.00002
|
NM_001018115.3(FANCD2):c.3127G>A (p.Gly1043Ser)
|
rs142238966
|
0.00002
|
NM_001018115.3(FANCD2):c.3149T>A (p.Val1050Glu)
|
rs751027444
|
0.00002
|
NM_001018115.3(FANCD2):c.3226A>G (p.Ser1076Gly)
|
rs1371349116
|
0.00002
|
NM_001018115.3(FANCD2):c.3406A>G (p.Arg1136Gly)
|
rs369405673
|
0.00002
|
NM_001018115.3(FANCD2):c.3421A>G (p.Ile1141Val)
|
rs752815037
|
0.00002
|
NM_001018115.3(FANCD2):c.355C>T (p.Arg119Cys)
|
rs200335298
|
0.00002
|
NM_001018115.3(FANCD2):c.3734C>T (p.Thr1245Met)
|
rs764775864
|
0.00002
|
NM_001018115.3(FANCD2):c.377+17T>C
|
rs45593431
|
0.00002
|
NM_001018115.3(FANCD2):c.3959A>G (p.His1320Arg)
|
rs746501818
|
0.00002
|
NM_001018115.3(FANCD2):c.469T>C (p.Leu157=)
|
rs373600764
|
0.00002
|
NM_001029.5(RPS26):c.207G>C (p.Val69=)
|
rs776240183
|
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.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.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_001081.4(CUBN):c.10612G>T (p.Glu3538Ter)
|
rs756614749
|
0.00002
|
NM_001081.4(CUBN):c.10853G>A (p.Arg3618Gln)
|
rs780837561
|
0.00002
|
NM_001081.4(CUBN):c.3517A>G (p.Ser1173Gly)
|
rs768104200
|
0.00002
|
NM_001081.4(CUBN):c.5758G>A (p.Ala1920Thr)
|
rs770772474
|
0.00002
|
NM_001081.4(CUBN):c.5841C>T (p.Ser1947=)
|
rs199868206
|
0.00002
|
NM_001081.4(CUBN):c.5917A>G (p.Ile1973Val)
|
rs556462218
|
0.00002
|
NM_001081.4(CUBN):c.8204A>C (p.Asp2735Ala)
|
rs558369938
|
0.00002
|
NM_001081.4(CUBN):c.8755C>T (p.Arg2919Ter)
|
rs370038232
|
0.00002
|
NM_001082486.2(ACD):c.608_609del (p.Pro203fs)
|
rs777476880
|
0.00002
|
NM_001113378.2(FANCI):c.1112+8G>C
|
rs761741904
|
0.00002
|
NM_001113378.2(FANCI):c.1513-16A>C
|
rs768296894
|
0.00002
|
NM_001113378.2(FANCI):c.17T>C (p.Leu6Ser)
|
rs369268726
|
0.00002
|
NM_001113378.2(FANCI):c.1804C>T (p.Arg602Ter)
|
rs1432325198
|
0.00002
|
NM_001113378.2(FANCI):c.1850C>G (p.Ser617Cys)
|
rs749295501
|
0.00002
|
NM_001113378.2(FANCI):c.1923G>A (p.Leu641=)
|
rs750462548
|
0.00002
|
NM_001113378.2(FANCI):c.197G>A (p.Arg66His)
|
rs779515039
|
0.00002
|
NM_001113378.2(FANCI):c.209C>T (p.Thr70Ile)
|
rs201796281
|
0.00002
|
NM_001113378.2(FANCI):c.2266T>C (p.Tyr756His)
|
rs752028405
|
0.00002
|
NM_001113378.2(FANCI):c.2878C>T (p.Arg960Trp)
|
rs562503186
|
0.00002
|
NM_001113378.2(FANCI):c.3309C>G (p.Ile1103Met)
|
rs922792253
|
0.00002
|
NM_001113378.2(FANCI):c.3676dup (p.Thr1226fs)
|
rs773847168
|
0.00002
|
NM_001113378.2(FANCI):c.644A>G (p.Tyr215Cys)
|
rs751222800
|
0.00002
|
NM_001113378.2(FANCI):c.665C>T (p.Ser222Phe)
|
rs1435589915
|
0.00002
|
NM_001113378.2(FANCI):c.875A>G (p.His292Arg)
|
rs764641724
|
0.00002
|
NM_001113378.2(FANCI):c.919C>T (p.Pro307Ser)
|
rs769485443
|
0.00002
|
NM_001113378.2(FANCI):c.976-5T>C
|
rs775680372
|
0.00002
|
NM_001164277.2(SLC37A4):c.1129G>A (p.Gly377Ser)
|
rs782255299
|
0.00002
|
NM_001164277.2(SLC37A4):c.1175G>A (p.Ser392Asn)
|
rs1035199340
|
0.00002
|
NM_001164277.2(SLC37A4):c.944T>C (p.Met315Thr)
|
rs781834870
|
0.00002
|
NM_001164277.2(SLC37A4):c.955C>T (p.Arg319Trp)
|
rs376730573
|
0.00002
|
NM_001258392.3(CLPB):c.214G>A (p.Gly72Arg)
|
rs758376345
|
0.00002
|
NM_001364905.1(LRBA):c.5942G>A (p.Arg1981His)
|
rs780262611
|
0.00002
|
NM_001364905.1(LRBA):c.7637A>G (p.Gln2546Arg)
|
rs769697590
|
0.00002
|
NM_001367721.1(CASK):c.2424C>T (p.Tyr808=)
|
rs779629178
|
0.00002
|
NM_001375808.2(LPIN2):c.1348G>A (p.Ala450Thr)
|
rs771486222
|
0.00002
|
NM_001375808.2(LPIN2):c.589C>T (p.Arg197Ter)
|
rs750126005
|
0.00002
|
NM_001377304.1(GFI1B):c.551G>A (p.Arg184His)
|
rs570058270
|
0.00002
|
NM_001783.4(CD79A):c.535G>A (p.Gly179Arg)
|
rs782714583
|
0.00002
|
NM_001814.6(CTSC):c.872G>A (p.Cys291Tyr)
|
rs748729285
|
0.00002
|
NM_002049.4(GATA1):c.599-9C>T
|
rs1369447266
|
0.00002
|
NM_002454.3(MTRR):c.166G>A (p.Val56Met)
|
rs761061866
|
0.00002
|
NM_002454.3(MTRR):c.766G>T (p.Glu256Ter)
|
rs375908206
|
0.00002
|
NM_002473.6(MYH9):c.2713C>T (p.Arg905Cys)
|
rs377115843
|
0.00002
|
NM_002473.6(MYH9):c.2838+10C>T
|
rs1027216058
|
0.00002
|
NM_002473.6(MYH9):c.2844T>G (p.Leu948=)
|
rs763022319
|
0.00002
|
NM_002473.6(MYH9):c.3082A>G (p.Met1028Val)
|
rs1205000981
|
0.00002
|
NM_002473.6(MYH9):c.3272+19C>T
|
rs984743795
|
0.00002
|
NM_002473.6(MYH9):c.3742A>G (p.Lys1248Glu)
|
rs1276028189
|
0.00002
|
NM_002473.6(MYH9):c.4302G>C (p.Gln1434His)
|
rs143979758
|
0.00002
|
NM_002473.6(MYH9):c.4352C>T (p.Ala1451Val)
|
rs759107183
|
0.00002
|
NM_002473.6(MYH9):c.833A>G (p.Tyr278Cys)
|
rs727504863
|
0.00002
|
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter)
|
rs587782545
|
0.00002
|
NM_002485.5(NBN):c.775G>A (p.Glu259Lys)
|
rs201559159
|
0.00002
|
NM_002485.5(NBN):c.929T>C (p.Ile310Thr)
|
rs753812768
|
0.00002
|
NM_002485.5(NBN):c.995-17A>G
|
rs372875251
|
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_003664.5(AP3B1):c.466A>G (p.Lys156Glu)
|
rs1424373279
|
0.00002
|
NM_004364.5(CEBPA):c.715C>G (p.Pro239Ala)
|
rs1162371435
|
0.00002
|
NM_004629.2(FANCG):c.1077-2A>G
|
rs769547477
|
0.00002
|
NM_004629.2(FANCG):c.1480+1G>C
|
rs149616199
|
0.00002
|
NM_004629.2(FANCG):c.1702A>G (p.Thr568Ala)
|
rs750212705
|
0.00002
|
NM_004629.2(FANCG):c.635C>T (p.Ala212Val)
|
rs375754266
|
0.00002
|
NM_005050.4(ABCD4):c.20C>T (p.Ala7Val)
|
rs763842574
|
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.838C>T (p.Arg280Trp)
|
rs730880432
|
0.00002
|
NM_005263.5(GFI1):c.233G>C (p.Ser78Thr)
|
rs770306507
|
0.00002
|
NM_005334.3(HCFC1):c.2394C>T (p.Ile798=)
|
rs782244636
|
0.00002
|
NM_005373.3(MPL):c.1805T>C (p.Met602Thr)
|
rs770770219
|
0.00002
|
NM_005373.3(MPL):c.460T>C (p.Trp154Arg)
|
rs758428763
|
0.00002
|
NM_005431.2(XRCC2):c.596T>C (p.Met199Thr)
|
rs149099078
|
0.00002
|
NM_005476.7(GNE):c.1319A>C (p.Lys440Thr)
|
rs769745306
|
0.00002
|
NM_005476.7(GNE):c.1760T>C (p.Ile587Thr)
|
rs748949603
|
0.00002
|
NM_005957.5(MTHFR):c.470G>A (p.Arg157Gln)
|
rs121434295
|
0.00002
|
NM_006118.4(HAX1):c.11T>C (p.Phe4Ser)
|
rs780614125
|
0.00002
|
NM_007259.5(VPS45):c.1033C>T (p.Arg345Trp)
|
rs782225422
|
0.00002
|
NM_007294.4(BRCA1):c.1723G>A (p.Glu575Lys)
|
rs397508902
|
0.00002
|
NM_007294.4(BRCA1):c.5068A>C (p.Lys1690Gln)
|
rs397507239
|
0.00002
|
NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp)
|
rs397509327
|
0.00002
|
NM_015506.3(MMACHC):c.-123A>T
|
rs539415170
|
0.00002
|
NM_015506.3(MMACHC):c.574C>T (p.Leu192=)
|
rs762919217
|
0.00002
|
NM_015506.3(MMACHC):c.606T>C (p.Asp202=)
|
rs748881103
|
0.00002
|
NM_015506.3(MMACHC):c.608G>A (p.Trp203Ter)
|
rs398124295
|
0.00002
|
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter)
|
rs587776889
|
0.00002
|
NM_015506.3(MMACHC):c.683C>T (p.Ala228Val)
|
rs201269886
|
0.00002
|
NM_015506.3(MMACHC):c.840del (p.Gly281fs)
|
rs757384010
|
0.00002
|
NM_017890.5(VPS13B):c.4280G>A (p.Cys1427Tyr)
|
rs144187978
|
0.00002
|
NM_018062.4(FANCL):c.428C>T (p.Ala143Val)
|
rs756000370
|
0.00002
|
NM_018062.4(FANCL):c.677G>A (p.Arg226His)
|
rs745526326
|
0.00002
|
NM_020937.4(FANCM):c.1043A>G (p.Asn348Ser)
|
rs369752557
|
0.00002
|
NM_020937.4(FANCM):c.1433G>A (p.Arg478Gln)
|
rs932978530
|
0.00002
|
NM_020937.4(FANCM):c.1490C>T (p.Ser497Leu)
|
rs1226481393
|
0.00002
|
NM_020937.4(FANCM):c.1565A>G (p.Gln522Arg)
|
rs371569048
|
0.00002
|
NM_020937.4(FANCM):c.1973G>A (p.Arg658Gln)
|
rs763495035
|
0.00002
|
NM_020937.4(FANCM):c.2085G>C (p.Arg695Ser)
|
rs368303133
|
0.00002
|
NM_020937.4(FANCM):c.2444C>T (p.Ser815Leu)
|
rs371688801
|
0.00002
|
NM_020937.4(FANCM):c.2890G>A (p.Glu964Lys)
|
rs200017450
|
0.00002
|
NM_020937.4(FANCM):c.2968G>A (p.Val990Ile)
|
rs772477865
|
0.00002
|
NM_020937.4(FANCM):c.3173A>G (p.Asn1058Ser)
|
rs747787931
|
0.00002
|
NM_020937.4(FANCM):c.3436G>A (p.Asp1146Asn)
|
rs142077813
|
0.00002
|
NM_020937.4(FANCM):c.3513T>C (p.Pro1171=)
|
rs771150480
|
0.00002
|
NM_020937.4(FANCM):c.3935T>C (p.Leu1312Pro)
|
rs200028975
|
0.00002
|
NM_020937.4(FANCM):c.4483A>G (p.Ile1495Val)
|
rs765860916
|
0.00002
|
NM_020937.4(FANCM):c.5066C>T (p.Ala1689Val)
|
rs759068569
|
0.00002
|
NM_020937.4(FANCM):c.5581A>G (p.Met1861Val)
|
rs763226965
|
0.00002
|
NM_020937.4(FANCM):c.601G>A (p.Gly201Arg)
|
rs139736490
|
0.00002
|
NM_020937.4(FANCM):c.6068A>G (p.Tyr2023Cys)
|
rs750156990
|
0.00002
|
NM_020937.4(FANCM):c.88G>C (p.Glu30Gln)
|
rs373268822
|
0.00002
|
NM_021871.4(FGA):c.502C>T (p.Arg168Ter)
|
rs755117226
|
0.00002
|
NM_021871.4(FGA):c.8C>T (p.Ser3Phe)
|
rs771156473
|
0.00002
|
NM_021922.3(FANCE):c.399C>T (p.Leu133=)
|
rs1056749845
|
0.00002
|
NM_021922.3(FANCE):c.520G>C (p.Gly174Arg)
|
rs767509954
|
0.00002
|
NM_021922.3(FANCE):c.656G>A (p.Arg219Lys)
|
rs551170184
|
0.00002
|
NM_021922.3(FANCE):c.661C>T (p.Arg221Trp)
|
rs771767241
|
0.00002
|
NM_022081.6(HPS4):c.2041G>A (p.Gly681Ser)
|
rs149568178
|
0.00002
|
NM_022081.6(HPS4):c.877C>G (p.Leu293Val)
|
rs886057317
|
0.00002
|
NM_022725.4(FANCF):c.58A>G (p.Thr20Ala)
|
rs1328802237
|
0.00002
|
NM_024598.4(USB1):c.111C>T (p.Pro37=)
|
rs767672950
|
0.00002
|
NM_024675.4(PALB2):c.1093A>G (p.Arg365Gly)
|
rs773001248
|
0.00002
|
NM_024675.4(PALB2):c.187C>T (p.Leu63Phe)
|
rs730881899
|
0.00002
|
NM_024675.4(PALB2):c.212-2A>G
|
rs730881879
|
0.00002
|
NM_024675.4(PALB2):c.2167_2168del (p.Met723fs)
|
rs587776416
|
0.00002
|
NM_024675.4(PALB2):c.2612A>G (p.Asp871Gly)
|
rs515726090
|
0.00002
|
NM_024675.4(PALB2):c.2840T>C (p.Leu947Ser)
|
rs45464500
|
0.00002
|
NM_024675.4(PALB2):c.2978C>T (p.Thr993Met)
|
rs61756146
|
0.00002
|
NM_024675.4(PALB2):c.3244A>G (p.Ser1082Gly)
|
rs786203345
|
0.00002
|
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter)
|
rs587776527
|
0.00002
|
NM_024675.4(PALB2):c.3323del (p.Tyr1108fs)
|
rs180177135
|
0.00002
|
NM_024675.4(PALB2):c.3432C>T (p.Leu1144=)
|
rs748363227
|
0.00002
|
NM_024675.4(PALB2):c.79G>T (p.Glu27Ter)
|
rs878855122
|
0.00002
|
NM_024747.6(HPS6):c.1417G>A (p.Val473Met)
|
rs542540023
|
0.00002
|
NM_030943.4(AMN):c.1006G>A (p.Gly336Ser)
|
rs1339571276
|
0.00002
|
NM_030943.4(AMN):c.532G>A (p.Asp178Asn)
|
rs575761625
|
0.00002
|
NM_032043.3(BRIP1):c.797C>T (p.Thr266Met)
|
rs550031006
|
0.00002
|
NM_032444.4(SLX4):c.1163+5G>T
|
rs762454252
|
0.00002
|
NM_032444.4(SLX4):c.1574G>A (p.Arg525His)
|
rs756369289
|
0.00002
|
NM_032444.4(SLX4):c.1977G>A (p.Ser659=)
|
rs572117922
|
0.00002
|
NM_032444.4(SLX4):c.2144C>T (p.Pro715Leu)
|
rs749399683
|
0.00002
|
NM_032444.4(SLX4):c.2528A>C (p.Gln843Pro)
|
rs762300440
|
0.00002
|
NM_032444.4(SLX4):c.2767A>T (p.Met923Leu)
|
rs573280243
|
0.00002
|
NM_032444.4(SLX4):c.2843C>T (p.Ala948Val)
|
rs781462011
|
0.00002
|
NM_032444.4(SLX4):c.2950G>A (p.Glu984Lys)
|
rs750906921
|
0.00002
|
NM_032444.4(SLX4):c.3127G>A (p.Gly1043Arg)
|
rs776060270
|
0.00002
|
NM_032444.4(SLX4):c.3166C>A (p.Leu1056Met)
|
rs773890423
|
0.00002
|
NM_032444.4(SLX4):c.3872C>T (p.Thr1291Met)
|
rs754761366
|
0.00002
|
NM_032444.4(SLX4):c.3962C>T (p.Pro1321Leu)
|
rs778781581
|
0.00002
|
NM_032444.4(SLX4):c.4021A>G (p.Arg1341Gly)
|
rs747230215
|
0.00002
|
NM_032444.4(SLX4):c.4144A>G (p.Ser1382Gly)
|
rs767790750
|
0.00002
|
NM_032444.4(SLX4):c.4427C>G (p.Thr1476Ser)
|
rs372321470
|
0.00002
|
NM_032444.4(SLX4):c.4484C>T (p.Ala1495Val)
|
rs777033175
|
0.00002
|
NM_032444.4(SLX4):c.4715C>T (p.Pro1572Leu)
|
rs182432298
|
0.00002
|
NM_032444.4(SLX4):c.5060C>G (p.Pro1687Arg)
|
rs765960272
|
0.00002
|
NM_032444.4(SLX4):c.5242C>T (p.Gln1748Ter)
|
rs776789371
|
0.00002
|
NM_032444.4(SLX4):c.802G>A (p.Val268Met)
|
rs1060501798
|
0.00002
|
NM_032444.4(SLX4):c.901A>C (p.Lys301Gln)
|
rs571996250
|
0.00002
|
NM_033360.4(KRAS):c.389C>T (p.Ala130Val)
|
rs730880473
|
0.00002
|
NM_058216.3(RAD51C):c.1089G>A (p.Leu363=)
|
rs559647198
|
0.00002
|
NM_058216.3(RAD51C):c.224dup (p.Tyr75Ter)
|
rs730881939
|
0.00002
|
NM_058216.3(RAD51C):c.451G>A (p.Val151Met)
|
rs753912045
|
0.00002
|
NM_058216.3(RAD51C):c.706-2A>G
|
rs587780259
|
0.00002
|
NM_058216.3(RAD51C):c.719T>C (p.Ile240Thr)
|
rs539341386
|
0.00002
|
NM_058216.3(RAD51C):c.904+17A>G
|
rs760664998
|
0.00002
|
NM_058216.3(RAD51C):c.923C>G (p.Ala308Gly)
|
rs786203498
|
0.00002
|
NM_139027.6(ADAMTS13):c.3449G>A (p.Arg1150Gln)
|
rs781885530
|
0.00002
|
NM_139027.6(ADAMTS13):c.3554T>C (p.Met1185Thr)
|
rs1057522240
|
0.00002
|
NM_139027.6(ADAMTS13):c.460G>A (p.Val154Ile)
|
rs369026148
|
0.00002
|
NM_152564.5(VPS13B):c.1193C>T (p.Thr398Met)
|
rs753703762
|
0.00002
|
NM_152564.5(VPS13B):c.1529G>A (p.Arg510His)
|
rs771667880
|
0.00002
|
NM_152564.5(VPS13B):c.8040G>C (p.Arg2680Ser)
|
rs145899918
|
0.00002
|
NM_152564.5(VPS13B):c.897C>G (p.Asp299Glu)
|
rs146883974
|
0.00002
|
NM_152564.5(VPS13B):c.9742+2dup
|
rs770968105
|
0.00002
|
NM_172351.3(CD46):c.535G>C (p.Glu179Gln)
|
rs779174212
|
0.00002
|
NM_181507.2(HPS5):c.1862+1G>A
|
rs778500897
|
0.00002
|
NM_000057.4(BLM):c.1277C>T (p.Ser426Leu)
|
rs768127491
|
0.00001
|
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs)
|
rs786204471
|
0.00001
|
NM_000057.4(BLM):c.2271C>G (p.Asp757Glu)
|
rs773761682
|
0.00001
|
NM_000057.4(BLM):c.2351A>G (p.Tyr784Cys)
|
rs753635754
|
0.00001
|
NM_000057.4(BLM):c.264C>A (p.Asp88Glu)
|
rs757984551
|
0.00001
|
NM_000057.4(BLM):c.2674A>G (p.Ile892Val)
|
rs764587569
|
0.00001
|
NM_000057.4(BLM):c.2823+2T>A
|
rs1896712920
|
0.00001
|
NM_000057.4(BLM):c.2975T>C (p.Phe992Ser)
|
rs371418699
|
0.00001
|
NM_000057.4(BLM):c.3210+4A>G
|
rs776621429
|
0.00001
|
NM_000057.4(BLM):c.3416G>A (p.Arg1139Gln)
|
rs771776126
|
0.00001
|
NM_000057.4(BLM):c.3505G>A (p.Ala1169Thr)
|
rs777492549
|
0.00001
|
NM_000057.4(BLM):c.4177A>G (p.Asn1393Asp)
|
rs548600410
|
0.00001
|
NM_000057.4(BLM):c.959+17A>G
|
rs1263627625
|
0.00001
|
NM_000059.4(BRCA2):c.10111A>G (p.Thr3371Ala)
|
rs80358393
|
0.00001
|
NM_000059.4(BRCA2):c.10113T>C (p.Thr3371=)
|
rs779075029
|
0.00001
|
NM_000059.4(BRCA2):c.1179T>C (p.Cys393=)
|
rs786201237
|
0.00001
|
NM_000059.4(BRCA2):c.2122T>A (p.Ser708Thr)
|
rs80358488
|
0.00001
|
NM_000059.4(BRCA2):c.2186T>C (p.Ile729Thr)
|
rs431825296
|
0.00001
|
NM_000059.4(BRCA2):c.2908G>A (p.Asp970Asn)
|
rs397507295
|
0.00001
|
NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs)
|
rs80359380
|
0.00001
|
NM_000059.4(BRCA2):c.3785C>G (p.Ser1262Ter)
|
rs80358620
|
0.00001
|
NM_000059.4(BRCA2):c.4478A>G (p.Glu1493Gly)
|
rs80358679
|
0.00001
|
NM_000059.4(BRCA2):c.4535G>A (p.Arg1512His)
|
rs80358685
|
0.00001
|
NM_000059.4(BRCA2):c.4552del (p.Glu1518fs)
|
rs398122783
|
0.00001
|
NM_000059.4(BRCA2):c.464G>C (p.Arg155Thr)
|
rs377639990
|
0.00001
|
NM_000059.4(BRCA2):c.5028T>C (p.Ser1676=)
|
rs762458631
|
0.00001
|
NM_000059.4(BRCA2):c.505A>C (p.Lys169Gln)
|
rs41293467
|
0.00001
|
NM_000059.4(BRCA2):c.5231G>T (p.Ser1744Ile)
|
rs587782060
|
0.00001
|
NM_000059.4(BRCA2):c.5434G>A (p.Glu1812Lys)
|
rs80358767
|
0.00001
|
NM_000059.4(BRCA2):c.5672C>T (p.Ala1891Val)
|
rs397507360
|
0.00001
|
NM_000059.4(BRCA2):c.5828del (p.Ser1943fs)
|
rs80359541
|
0.00001
|
NM_000059.4(BRCA2):c.5857G>T (p.Glu1953Ter)
|
rs80358814
|
0.00001
|
NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter)
|
rs80358815
|
0.00001
|
NM_000059.4(BRCA2):c.5962G>A (p.Val1988Ile)
|
rs28897739
|
0.00001
|
NM_000059.4(BRCA2):c.6264T>C (p.Thr2088=)
|
rs750651726
|
0.00001
|
NM_000059.4(BRCA2):c.6626T>C (p.Ile2209Thr)
|
rs431825344
|
0.00001
|
NM_000059.4(BRCA2):c.6695A>T (p.Lys2232Ile)
|
rs786203098
|
0.00001
|
NM_000059.4(BRCA2):c.6706G>A (p.Glu2236Lys)
|
rs41293503
|
0.00001
|
NM_000059.4(BRCA2):c.7055C>T (p.Pro2352Leu)
|
rs80358934
|
0.00001
|
NM_000059.4(BRCA2):c.7447A>G (p.Ser2483Gly)
|
rs80358966
|
0.00001
|
NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter)
|
rs80358972
|
0.00001
|
NM_000059.4(BRCA2):c.7628A>G (p.Tyr2543Cys)
|
rs431825354
|
0.00001
|
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys)
|
rs80359013
|
0.00001
|
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu)
|
rs80359035
|
0.00001
|
NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His)
|
rs41293511
|
0.00001
|
NM_000059.4(BRCA2):c.8297del (p.Thr2766fs)
|
rs80359705
|
0.00001
|
NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=)
|
rs28897756
|
0.00001
|
NM_000059.4(BRCA2):c.9530A>G (p.Glu3177Gly)
|
rs876658365
|
0.00001
|
NM_000059.4(BRCA2):c.9538C>T (p.Leu3180Phe)
|
rs200598289
|
0.00001
|
NM_000061.3(BTK):c.1475G>A (p.Arg492His)
|
rs782338603
|
0.00001
|
NM_000064.4(C3):c.1047G>C (p.Val349=)
|
rs747191565
|
0.00001
|
NM_000064.4(C3):c.1433G>T (p.Arg478Leu)
|
rs747968673
|
0.00001
|
NM_000064.4(C3):c.1491G>A (p.Lys497=)
|
rs768360920
|
0.00001
|
NM_000064.4(C3):c.1887G>A (p.Pro629=)
|
rs747150559
|
0.00001
|
NM_000064.4(C3):c.1999G>A (p.Ala667Thr)
|
rs199535288
|
0.00001
|
NM_000064.4(C3):c.2118G>A (p.Ser706=)
|
rs755973774
|
0.00001
|
NM_000064.4(C3):c.2583+13G>A
|
rs774609150
|
0.00001
|
NM_000064.4(C3):c.3242A>G (p.Tyr1081Cys)
|
rs531259592
|
0.00001
|
NM_000064.4(C3):c.3400C>T (p.Arg1134Trp)
|
rs138900723
|
0.00001
|
NM_000064.4(C3):c.3401G>A (p.Arg1134Gln)
|
rs777904423
|
0.00001
|
NM_000064.4(C3):c.3489+18T>C
|
rs747517809
|
0.00001
|
NM_000064.4(C3):c.3546C>T (p.Asn1182=)
|
rs189353964
|
0.00001
|
NM_000064.4(C3):c.3593A>G (p.Gln1198Arg)
|
rs372976419
|
0.00001
|
NM_000064.4(C3):c.3754G>A (p.Val1252Ile)
|
rs537300095
|
0.00001
|
NM_000064.4(C3):c.3757G>A (p.Val1253Met)
|
rs769164285
|
0.00001
|
NM_000064.4(C3):c.4155C>T (p.Ile1385=)
|
rs563352895
|
0.00001
|
NM_000064.4(C3):c.4348A>C (p.Lys1450Gln)
|
rs191489530
|
0.00001
|
NM_000064.4(C3):c.452C>G (p.Thr151Ser)
|
rs1968082456
|
0.00001
|
NM_000064.4(C3):c.4631-6C>T
|
rs775109096
|
0.00001
|
NM_000064.4(C3):c.4665C>G (p.Ser1555=)
|
rs542668902
|
0.00001
|
NM_000064.4(C3):c.899T>C (p.Val300Ala)
|
rs756370451
|
0.00001
|
NM_000064.4(C3):c.976G>A (p.Val326Met)
|
rs375264020
|
0.00001
|
NM_000081.4(LYST):c.5578A>G (p.Met1860Val)
|
rs368738466
|
0.00001
|
NM_000081.4(LYST):c.5620T>A (p.Phe1874Ile)
|
rs757494655
|
0.00001
|
NM_000096.4(CP):c.1954G>A (p.Glu652Lys)
|
rs141425435
|
0.00001
|
NM_000101.4(CYBA):c.163C>T (p.Pro55Ser)
|
rs755658845
|
0.00001
|
NM_000101.4(CYBA):c.287+2T>C
|
rs747774702
|
0.00001
|
NM_000101.4(CYBA):c.70G>A (p.Gly24Arg)
|
rs28941476
|
0.00001
|
NM_000128.4(F11):c.1432G>A (p.Gly478Arg)
|
rs542967227
|
0.00001
|
NM_000128.4(F11):c.1556G>A (p.Trp519Ter)
|
rs201007090
|
0.00001
|
NM_000128.4(F11):c.67C>T (p.Gln23Ter)
|
rs768409400
|
0.00001
|
NM_000128.4(F11):c.841C>T (p.Gln281Ter)
|
rs770505620
|
0.00001
|
NM_000130.5(F5):c.3952C>A (p.Gln1318Lys)
|
rs538359973
|
0.00001
|
NM_000132.4(F8):c.2167G>A (p.Ala723Thr)
|
rs137852436
|
0.00001
|
NM_000132.4(F8):c.2732A>G (p.Asp911Gly)
|
rs782671808
|
0.00001
|
NM_000132.4(F8):c.6622C>G (p.Gln2208Glu)
|
rs1472169963
|
0.00001
|
NM_000133.4(F9):c.224G>A (p.Arg75Gln)
|
rs137852228
|
0.00001
|
NM_000135.4(FANCA):c.1007-17T>C
|
rs760059831
|
0.00001
|
NM_000135.4(FANCA):c.100A>T (p.Lys34Ter)
|
rs772858764
|
0.00001
|
NM_000135.4(FANCA):c.109C>T (p.Pro37Ser)
|
rs780833865
|
0.00001
|
NM_000135.4(FANCA):c.1141A>G (p.Thr381Ala)
|
rs774319222
|
0.00001
|
NM_000135.4(FANCA):c.1150G>T (p.Val384Phe)
|
rs751071791
|
0.00001
|
NM_000135.4(FANCA):c.1226-2A>G
|
rs773906241
|
0.00001
|
NM_000135.4(FANCA):c.1251G>T (p.Gln417His)
|
rs779068860
|
0.00001
|
NM_000135.4(FANCA):c.1360-12C>T
|
rs951725614
|
0.00001
|
NM_000135.4(FANCA):c.1398C>G (p.Ser466Arg)
|
rs565303230
|
0.00001
|
NM_000135.4(FANCA):c.1471-8A>G
|
rs374717514
|
0.00001
|
NM_000135.4(FANCA):c.1654G>A (p.Glu552Lys)
|
rs1012809189
|
0.00001
|
NM_000135.4(FANCA):c.1701C>T (p.Thr567=)
|
rs745466726
|
0.00001
|
NM_000135.4(FANCA):c.1798C>T (p.Arg600Cys)
|
rs765036744
|
0.00001
|
NM_000135.4(FANCA):c.1808T>C (p.Phe603Ser)
|
rs766939940
|
0.00001
|
NM_000135.4(FANCA):c.1835A>G (p.Lys612Arg)
|
rs777736014
|
0.00001
|
NM_000135.4(FANCA):c.1934C>T (p.Ser645Phe)
|
rs776682683
|
0.00001
|
NM_000135.4(FANCA):c.2022G>A (p.Ser674=)
|
rs371997754
|
0.00001
|
NM_000135.4(FANCA):c.207T>C (p.Cys69=)
|
rs941660593
|
0.00001
|
NM_000135.4(FANCA):c.2125C>G (p.Pro709Ala)
|
rs746373917
|
0.00001
|
NM_000135.4(FANCA):c.2126C>T (p.Pro709Leu)
|
rs148203537
|
0.00001
|
NM_000135.4(FANCA):c.2147A>G (p.His716Arg)
|
rs751474452
|
0.00001
|
NM_000135.4(FANCA):c.2180G>A (p.Cys727Tyr)
|
rs1425954290
|
0.00001
|
NM_000135.4(FANCA):c.2186A>G (p.Asn729Ser)
|
rs1440861257
|
0.00001
|
NM_000135.4(FANCA):c.220C>G (p.Leu74Val)
|
rs770294560
|
0.00001
|
NM_000135.4(FANCA):c.2210C>T (p.Ala737Val)
|
rs199938598
|
0.00001
|
NM_000135.4(FANCA):c.2218G>A (p.Glu740Lys)
|
rs536086288
|
0.00001
|
NM_000135.4(FANCA):c.2247C>T (p.Phe749=)
|
rs772842754
|
0.00001
|
NM_000135.4(FANCA):c.2322G>A (p.Pro774=)
|
rs931091451
|
0.00001
|
NM_000135.4(FANCA):c.2420C>T (p.Ala807Val)
|
rs144570744
|
0.00001
|
NM_000135.4(FANCA):c.2459G>A (p.Ser820Asn)
|
rs1339411422
|
0.00001
|
NM_000135.4(FANCA):c.2474G>A (p.Arg825Lys)
|
rs751222471
|
0.00001
|
NM_000135.4(FANCA):c.2481G>A (p.Arg827=)
|
rs749895479
|
0.00001
|
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter)
|
rs752160950
|
0.00001
|
NM_000135.4(FANCA):c.2582C>T (p.Ser861Phe)
|
rs980582362
|
0.00001
|
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro)
|
rs780825099
|
0.00001
|
NM_000135.4(FANCA):c.260C>G (p.Ala87Gly)
|
rs758619078
|
0.00001
|
NM_000135.4(FANCA):c.2704G>C (p.Asp902His)
|
rs1009521389
|
0.00001
|
NM_000135.4(FANCA):c.2738A>C (p.His913Pro)
|
rs1302083447
|
0.00001
|
NM_000135.4(FANCA):c.2741G>C (p.Arg914Thr)
|
rs748454613
|
0.00001
|
NM_000135.4(FANCA):c.2840C>G (p.Ser947Ter)
|
rs745568821
|
0.00001
|
NM_000135.4(FANCA):c.2852+13A>T
|
rs189890126
|
0.00001
|
NM_000135.4(FANCA):c.2937T>C (p.Ala979=)
|
rs762638564
|
0.00001
|
NM_000135.4(FANCA):c.2939C>T (p.Ala980Val)
|
rs773070418
|
0.00001
|
NM_000135.4(FANCA):c.294G>T (p.Leu98Phe)
|
rs751380220
|
0.00001
|
NM_000135.4(FANCA):c.3136C>T (p.His1046Tyr)
|
rs747913731
|
0.00001
|
NM_000135.4(FANCA):c.317G>C (p.Gly106Ala)
|
rs764893807
|
0.00001
|
NM_000135.4(FANCA):c.3192C>T (p.Ser1064=)
|
rs768502785
|
0.00001
|
NM_000135.4(FANCA):c.3193G>A (p.Val1065Met)
|
rs140124051
|
0.00001
|
NM_000135.4(FANCA):c.3230T>A (p.Met1077Lys)
|
rs776603588
|
0.00001
|
NM_000135.4(FANCA):c.3246C>T (p.Leu1082=)
|
rs753864057
|
0.00001
|
NM_000135.4(FANCA):c.3373G>A (p.Ala1125Thr)
|
rs1162813981
|
0.00001
|
NM_000135.4(FANCA):c.3381A>G (p.Thr1127=)
|
rs946344673
|
0.00001
|
NM_000135.4(FANCA):c.3385G>C (p.Asp1129His)
|
rs768851109
|
0.00001
|
NM_000135.4(FANCA):c.338C>T (p.Ser113Leu)
|
rs149903404
|
0.00001
|
NM_000135.4(FANCA):c.3538G>A (p.Val1180Met)
|
rs372706571
|
0.00001
|
NM_000135.4(FANCA):c.353C>T (p.Ala118Val)
|
rs1201642328
|
0.00001
|
NM_000135.4(FANCA):c.3550C>T (p.Arg1184Trp)
|
rs201492940
|
0.00001
|
NM_000135.4(FANCA):c.3556A>G (p.Arg1186Gly)
|
rs748713183
|
0.00001
|
NM_000135.4(FANCA):c.3626+4C>T
|
rs772166806
|
0.00001
|
NM_000135.4(FANCA):c.3634dup (p.Ser1212fs)
|
rs1374769712
|
0.00001
|
NM_000135.4(FANCA):c.3697G>A (p.Ala1233Thr)
|
rs751899346
|
0.00001
|
NM_000135.4(FANCA):c.3703C>G (p.Gln1235Glu)
|
rs769919783
|
0.00001
|
NM_000135.4(FANCA):c.3733C>A (p.Gln1245Lys)
|
rs745665658
|
0.00001
|
NM_000135.4(FANCA):c.3813dup (p.His1272fs)
|
rs1555534521
|
0.00001
|
NM_000135.4(FANCA):c.3817C>G (p.Leu1273Val)
|
rs759514393
|
0.00001
|
NM_000135.4(FANCA):c.3838G>A (p.Asp1280Asn)
|
rs914045767
|
0.00001
|
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys)
|
rs745882980
|
0.00001
|
NM_000135.4(FANCA):c.4251C>T (p.His1417=)
|
rs752333498
|
0.00001
|
NM_000135.4(FANCA):c.4274G>A (p.Arg1425His)
|
rs147406377
|
0.00001
|
NM_000135.4(FANCA):c.483C>T (p.Phe161=)
|
rs769389376
|
0.00001
|
NM_000135.4(FANCA):c.487C>T (p.Arg163Cys)
|
rs747651383
|
0.00001
|
NM_000135.4(FANCA):c.488G>A (p.Arg163His)
|
rs375648811
|
0.00001
|
NM_000135.4(FANCA):c.549G>T (p.Trp183Cys)
|
rs758528624
|
0.00001
|
NM_000135.4(FANCA):c.55C>T (p.Arg19Trp)
|
rs1300733063
|
0.00001
|
NM_000135.4(FANCA):c.580C>T (p.Gln194Ter)
|
rs1384166265
|
0.00001
|
NM_000135.4(FANCA):c.676C>G (p.Gln226Glu)
|
rs1598177148
|
0.00001
|
NM_000135.4(FANCA):c.700A>G (p.Met234Val)
|
rs1042676101
|
0.00001
|
NM_000135.4(FANCA):c.709+5G>A
|
rs759877008
|
0.00001
|
NM_000135.4(FANCA):c.797C>T (p.Thr266Met)
|
rs752799441
|
0.00001
|
NM_000135.4(FANCA):c.811C>T (p.Gln271Ter)
|
rs372163487
|
0.00001
|
NM_000135.4(FANCA):c.894-10G>A
|
rs751912856
|
0.00001
|
NM_000135.4(FANCA):c.908G>A (p.Ser303Asn)
|
rs1060501877
|
0.00001
|
NM_000135.4(FANCA):c.917C>T (p.Thr306Met)
|
rs370852532
|
0.00001
|
NM_000135.4(FANCA):c.982C>G (p.Leu328Val)
|
rs779244841
|
0.00001
|
NM_000135.4(FANCA):c.991del (p.Ser331fs)
|
rs746236214
|
0.00001
|
NM_000136.3(FANCC):c.1048A>G (p.Met350Val)
|
rs863224607
|
0.00001
|
NM_000136.3(FANCC):c.104G>C (p.Cys35Ser)
|
rs143212932
|
0.00001
|
NM_000136.3(FANCC):c.1069C>G (p.Gln357Glu)
|
rs759900071
|
0.00001
|
NM_000136.3(FANCC):c.1151A>G (p.His384Arg)
|
rs577302082
|
0.00001
|
NM_000136.3(FANCC):c.1252C>T (p.Pro418Ser)
|
rs1284061457
|
0.00001
|
NM_000136.3(FANCC):c.1291G>A (p.Gly431Ser)
|
rs1588047887
|
0.00001
|
NM_000136.3(FANCC):c.1309C>T (p.Gln437Ter)
|
rs944083227
|
0.00001
|
NM_000136.3(FANCC):c.1310A>G (p.Gln437Arg)
|
rs912537449
|
0.00001
|
NM_000136.3(FANCC):c.1355A>G (p.His452Arg)
|
rs1224625808
|
0.00001
|
NM_000136.3(FANCC):c.1358T>A (p.Leu453His)
|
rs1490551416
|
0.00001
|
NM_000136.3(FANCC):c.1417C>T (p.Gln473Ter)
|
rs1410356625
|
0.00001
|
NM_000136.3(FANCC):c.143T>C (p.Met48Thr)
|
rs1353498563
|
0.00001
|
NM_000136.3(FANCC):c.1464G>C (p.Arg488Ser)
|
rs1415434775
|
0.00001
|
NM_000136.3(FANCC):c.1513G>A (p.Ala505Thr)
|
rs780179187
|
0.00001
|
NM_000136.3(FANCC):c.1534-18C>T
|
rs1289718209
|
0.00001
|
NM_000136.3(FANCC):c.1633A>G (p.Lys545Glu)
|
rs1064793496
|
0.00001
|
NM_000136.3(FANCC):c.166-9C>G
|
rs372507085
|
0.00001
|
NM_000136.3(FANCC):c.176C>T (p.Thr59Ile)
|
rs149566909
|
0.00001
|
NM_000136.3(FANCC):c.209T>A (p.Leu70Gln)
|
rs150174412
|
0.00001
|
NM_000136.3(FANCC):c.239T>C (p.Ile80Thr)
|
rs4647419
|
0.00001
|
NM_000136.3(FANCC):c.339G>A (p.Trp113Ter)
|
rs1057516291
|
0.00001
|
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter)
|
rs121917784
|
0.00001
|
NM_000136.3(FANCC):c.440C>T (p.Pro147Leu)
|
rs730881711
|
0.00001
|
NM_000136.3(FANCC):c.46A>G (p.Met16Val)
|
rs1390412870
|
0.00001
|
NM_000136.3(FANCC):c.522-1G>C
|
rs1014112491
|
0.00001
|
NM_000136.3(FANCC):c.535C>T (p.Arg179Ter)
|
rs769039987
|
0.00001
|
NM_000136.3(FANCC):c.536G>A (p.Arg179Gln)
|
rs538875706
|
0.00001
|
NM_000136.3(FANCC):c.572T>C (p.Ile191Thr)
|
rs767302089
|
0.00001
|
NM_000136.3(FANCC):c.668T>C (p.Val223Ala)
|
rs751410815
|
0.00001
|
NM_000136.3(FANCC):c.687-15A>C
|
rs765327075
|
0.00001
|
NM_000136.3(FANCC):c.792T>G (p.Ser264Arg)
|
rs730881717
|
0.00001
|
NM_000136.3(FANCC):c.823T>C (p.Phe275Leu)
|
rs745621828
|
0.00001
|
NM_000136.3(FANCC):c.835T>A (p.Ser279Thr)
|
rs757190154
|
0.00001
|
NM_000136.3(FANCC):c.875G>A (p.Arg292Gln)
|
rs747060782
|
0.00001
|
NM_000136.3(FANCC):c.917A>T (p.Asp306Val)
|
rs1383010376
|
0.00001
|
NM_000136.3(FANCC):c.996+1G>T
|
rs370510954
|
0.00001
|
NM_000136.3(FANCC):c.996+6T>C
|
rs200934877
|
0.00001
|
NM_000186.4(CFH):c.100A>T (p.Thr34Ser)
|
rs1389897706
|
0.00001
|
NM_000186.4(CFH):c.1357A>T (p.Ile453Leu)
|
rs1450633243
|
0.00001
|
NM_000186.4(CFH):c.1474A>G (p.Ile492Val)
|
rs892717090
|
0.00001
|
NM_000186.4(CFH):c.157C>T (p.Arg53Cys)
|
rs757785149
|
0.00001
|
NM_000186.4(CFH):c.1612G>C (p.Asp538His)
|
rs778051521
|
0.00001
|
NM_000186.4(CFH):c.1697-3A>C
|
rs778174105
|
0.00001
|
NM_000186.4(CFH):c.1744C>T (p.Arg582Cys)
|
rs144696019
|
0.00001
|
NM_000186.4(CFH):c.2047G>A (p.Val683Met)
|
rs573295841
|
0.00001
|
NM_000186.4(CFH):c.2151C>A (p.Phe717Leu)
|
rs763441589
|
0.00001
|
NM_000186.4(CFH):c.2236+10C>G
|
rs755790229
|
0.00001
|
NM_000186.4(CFH):c.2416G>T (p.Ala806Ser)
|
rs753331225
|
0.00001
|
NM_000186.4(CFH):c.2946A>G (p.Pro982=)
|
rs553471643
|
0.00001
|
NM_000186.4(CFH):c.3130A>G (p.Arg1044Gly)
|
rs1366929531
|
0.00001
|
NM_000186.4(CFH):c.3134-7T>C
|
rs779166622
|
0.00001
|
NM_000186.4(CFH):c.3358A>T (p.Ile1120Phe)
|
rs771435716
|
0.00001
|
NM_000186.4(CFH):c.3590T>C (p.Val1197Ala)
|
rs460184
|
0.00001
|
NM_000186.4(CFH):c.849A>G (p.Lys283=)
|
rs771886590
|
0.00001
|
NM_000186.4(CFH):c.889G>A (p.Gly297Ser)
|
rs764573258
|
0.00001
|
NM_000195.5(HPS1):c.1245C>T (p.Pro415=)
|
rs879797527
|
0.00001
|
NM_000195.5(HPS1):c.1294A>T (p.Met432Leu)
|
rs756067445
|
0.00001
|
NM_000195.5(HPS1):c.1383C>T (p.Pro461=)
|
rs763241171
|
0.00001
|
NM_000195.5(HPS1):c.1398-9C>T
|
rs773047618
|
0.00001
|
NM_000195.5(HPS1):c.1532+13C>T
|
rs202086569
|
0.00001
|
NM_000195.5(HPS1):c.1533-16G>A
|
rs763995634
|
0.00001
|
NM_000195.5(HPS1):c.1545G>A (p.Thr515=)
|
rs141596696
|
0.00001
|
NM_000195.5(HPS1):c.1598+11G>A
|
rs538837544
|
0.00001
|
NM_000195.5(HPS1):c.1744-2A>C
|
rs281865088
|
0.00001
|
NM_000195.5(HPS1):c.1807C>T (p.Gln603Ter)
|
rs886077189
|
0.00001
|
NM_000195.5(HPS1):c.2086C>T (p.Arg696Cys)
|
rs118116760
|
0.00001
|
NM_000195.5(HPS1):c.2087G>A (p.Arg696His)
|
rs759163020
|
0.00001
|
NM_000195.5(HPS1):c.31G>A (p.Ala11Thr)
|
rs770719820
|
0.00001
|
NM_000195.5(HPS1):c.391C>T (p.Arg131Ter)
|
rs281865076
|
0.00001
|
NM_000195.5(HPS1):c.399-5C>T
|
rs765780669
|
0.00001
|
NM_000195.5(HPS1):c.419C>T (p.Ala140Val)
|
rs1243685743
|
0.00001
|
NM_000195.5(HPS1):c.498C>T (p.Phe166=)
|
rs375340317
|
0.00001
|
NM_000195.5(HPS1):c.507+14G>A
|
rs367821874
|
0.00001
|
NM_000195.5(HPS1):c.570C>T (p.His190=)
|
rs1028581867
|
0.00001
|
NM_000195.5(HPS1):c.776C>T (p.Pro259Leu)
|
rs745797275
|
0.00001
|
NM_000195.5(HPS1):c.867+11T>C
|
rs745977366
|
0.00001
|
NM_000204.5(CFI):c.1016G>A (p.Arg339Gln)
|
rs773085612
|
0.00001
|
NM_000204.5(CFI):c.12T>A (p.Leu4=)
|
rs777304665
|
0.00001
|
NM_000204.5(CFI):c.1399T>C (p.Cys467Arg)
|
rs1724402529
|
0.00001
|
NM_000204.5(CFI):c.1479C>A (p.Ser493Arg)
|
rs780759494
|
0.00001
|
NM_000204.5(CFI):c.1656A>G (p.Lys552=)
|
rs1308386684
|
0.00001
|
NM_000204.5(CFI):c.1A>G (p.Met1Val)
|
rs770655669
|
0.00001
|
NM_000204.5(CFI):c.424A>C (p.Lys142Gln)
|
rs762431670
|
0.00001
|
NM_000204.5(CFI):c.439A>G (p.Met147Val)
|
rs760787282
|
0.00001
|
NM_000204.5(CFI):c.540A>G (p.Glu180=)
|
rs759777516
|
0.00001
|
NM_000204.5(CFI):c.662C>A (p.Ser221Tyr)
|
rs377528991
|
0.00001
|
NM_000204.5(CFI):c.848A>G (p.Asp283Gly)
|
rs756201106
|
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_000312.4(PROC):c.1241G>C (p.Trp414Ser)
|
rs768759265
|
0.00001
|
NM_000312.4(PROC):c.124C>T (p.Arg42Cys)
|
rs774572099
|
0.00001
|
NM_000312.4(PROC):c.1333A>C (p.Ile445Leu)
|
rs200012319
|
0.00001
|
NM_000312.4(PROC):c.340G>C (p.Gly114Arg)
|
rs374476971
|
0.00001
|
NM_000312.4(PROC):c.372C>G (p.Ser124Arg)
|
rs939496684
|
0.00001
|
NM_000312.4(PROC):c.659G>A (p.Arg220Gln)
|
rs121918153
|
0.00001
|
NM_000312.4(PROC):c.811C>T (p.Arg271Trp)
|
rs767112991
|
0.00001
|
NM_000312.4(PROC):c.881G>A (p.Ser294Asn)
|
rs200721675
|
0.00001
|
NM_000313.4(PROS1):c.1064G>A (p.Arg355His)
|
rs780863931
|
0.00001
|
NM_000313.4(PROS1):c.1981A>G (p.Ile661Val)
|
rs141122478
|
0.00001
|
NM_000313.4(PROS1):c.449A>G (p.Gln150Arg)
|
rs754149240
|
0.00001
|
NM_000313.4(PROS1):c.469+5G>A
|
rs756682607
|
0.00001
|
NM_000342.3(SLC4A1):c.1462G>A (p.Val488Met)
|
rs28931584
|
0.00001
|
NM_000342.4(SLC4A1):c.1181T>C (p.Leu394Pro)
|
rs768426818
|
0.00001
|
NM_000342.4(SLC4A1):c.1471G>A (p.Val491Met)
|
rs757478694
|
0.00001
|
NM_000342.4(SLC4A1):c.1480G>A (p.Gly494Ser)
|
rs751771382
|
0.00001
|
NM_000342.4(SLC4A1):c.2185G>A (p.Val729Met)
|
rs775748758
|
0.00001
|
NM_000342.4(SLC4A1):c.2387G>C (p.Gly796Ala)
|
rs766885976
|
0.00001
|
NM_000342.4(SLC4A1):c.2612G>A (p.Arg871His)
|
rs781396793
|
0.00001
|
NM_000342.4(SLC4A1):c.2614G>A (p.Val872Ile)
|
rs747337202
|
0.00001
|
NM_000342.4(SLC4A1):c.829G>A (p.Asp277Asn)
|
rs138288425
|
0.00001
|
NM_000361.3(THBD):c.119C>T (p.Pro40Leu)
|
rs766710327
|
0.00001
|
NM_000361.3(THBD):c.1319C>T (p.Thr440Met)
|
rs1438620913
|
0.00001
|
NM_000361.3(THBD):c.1499C>T (p.Thr500Met)
|
rs753344243
|
0.00001
|
NM_000361.3(THBD):c.1517C>A (p.Thr506Asn)
|
rs572623850
|
0.00001
|
NM_000361.3(THBD):c.1519C>T (p.Pro507Ser)
|
rs775671453
|
0.00001
|
NM_000361.3(THBD):c.1546G>C (p.Gly516Arg)
|
rs138861385
|
0.00001
|
NM_000361.3(THBD):c.236G>C (p.Gly79Ala)
|
rs1800577
|
0.00001
|
NM_000361.3(THBD):c.247C>G (p.Arg83Gly)
|
rs748313651
|
0.00001
|
NM_000361.3(THBD):c.77G>C (p.Gly26Ala)
|
rs757422951
|
0.00001
|
NM_000377.3(WAS):c.1156C>T (p.Pro386Ser)
|
rs895243178
|
0.00001
|
NM_000377.3(WAS):c.1219G>A (p.Gly407Arg)
|
rs782602857
|
0.00001
|
NM_000377.3(WAS):c.867T>C (p.Leu289=)
|
rs781855402
|
0.00001
|
NM_000377.3(WAS):c.897G>A (p.Gly299=)
|
rs782793103
|
0.00001
|
NM_000377.3(WAS):c.946C>A (p.Pro316Thr)
|
rs372779500
|
0.00001
|
NM_000377.3(WAS):c.962G>A (p.Arg321Gln)
|
rs782802310
|
0.00001
|
NM_000397.4(CYBB):c.772C>G (p.Pro258Ala)
|
rs1384465552
|
0.00001
|
NM_000398.7(CYB5R3):c.574C>T (p.Arg192Cys)
|
rs543277216
|
0.00001
|
NM_000398.7(CYB5R3):c.719A>G (p.Asp240Gly)
|
rs121965018
|
0.00001
|
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr)
|
rs76645461
|
0.00001
|
NM_000488.4(SERPINC1):c.1256C>T (p.Ala419Val)
|
rs121909568
|
0.00001
|
NM_000488.4(SERPINC1):c.391C>T (p.Leu131Phe)
|
rs121909567
|
0.00001
|
NM_000488.4(SERPINC1):c.408+4C>T
|
rs201551398
|
0.00001
|
NM_000488.4(SERPINC1):c.449A>C (p.Gln150Pro)
|
rs765445413
|
0.00001
|
NM_000488.4(SERPINC1):c.980T>C (p.Val327Ala)
|
rs773399107
|
0.00001
|
NM_000489.6(ATRX):c.2066A>G (p.Gln689Arg)
|
rs929951326
|
0.00001
|
NM_000489.6(ATRX):c.2782G>C (p.Glu928Gln)
|
rs797044792
|
0.00001
|
NM_000489.6(ATRX):c.3211G>A (p.Gly1071Arg)
|
rs143621153
|
0.00001
|
NM_000518.4(HBB):c.371C>A (p.Thr124Asn)
|
rs33935383
|
0.00001
|
NM_000518.4(HBB):c.44T>C (p.Leu15Pro)
|
rs33935445
|
0.00001
|
NM_000518.5(HBB):c.*62A>G
|
rs1046868746
|
0.00001
|
NM_000518.5(HBB):c.-100G>A
|
rs281864524
|
0.00001
|
NM_000518.5(HBB):c.123G>T (p.Arg41Ser)
|
rs33918778
|
0.00001
|
NM_000518.5(HBB):c.61G>A (p.Val21Met)
|
rs35890959
|
0.00001
|
NM_000518.5(HBB):c.92+2T>C
|
rs33956879
|
0.00001
|
NM_000518.5(HBB):c.92+5G>C
|
rs33915217
|
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.461G>A (p.Gly154Asp)
|
rs762846821
|
0.00001
|
NM_000546.6(TP53):c.524G>A (p.Arg175His)
|
rs28934578
|
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_000551.4(VHL):c.172C>T (p.Arg58Trp)
|
rs757781272
|
0.00001
|
NM_000551.4(VHL):c.205C>G (p.Arg69Gly)
|
rs1428175816
|
0.00001
|
NM_000551.4(VHL):c.275A>T (p.Asp92Val)
|
rs749091984
|
0.00001
|
NM_000551.4(VHL):c.298A>G (p.Thr100Ala)
|
rs745901803
|
0.00001
|
NM_000551.4(VHL):c.373C>T (p.His125Tyr)
|
rs375401722
|
0.00001
|
NM_000551.4(VHL):c.408T>G (p.Phe136Leu)
|
rs878854125
|
0.00001
|
NM_000551.4(VHL):c.40G>C (p.Gly14Arg)
|
rs1060503559
|
0.00001
|
NM_000551.4(VHL):c.426T>C (p.Val142=)
|
rs143594610
|
0.00001
|
NM_000551.4(VHL):c.499C>T (p.Arg167Trp)
|
rs5030820
|
0.00001
|
NM_000551.4(VHL):c.634G>T (p.Gly212Ter)
|
rs1553620389
|
0.00001
|
NM_000551.4(VHL):c.637G>C (p.Asp213His)
|
rs1696367993
|
0.00001
|
NM_000551.4(VHL):c.95A>G (p.Glu32Gly)
|
rs786203104
|
0.00001
|
NM_000631.5(NCF4):c.655T>C (p.Phe219Leu)
|
rs761212596
|
0.00001
|
NM_000969.5(RPL5):c.229G>A (p.Ala77Thr)
|
rs752867126
|
0.00001
|
NM_000969.5(RPL5):c.235T>A (p.Tyr79Asn)
|
rs1043234543
|
0.00001
|
NM_000969.5(RPL5):c.309G>T (p.Leu103=)
|
rs760490644
|
0.00001
|
NM_000969.5(RPL5):c.4-4T>C
|
rs746944177
|
0.00001
|
NM_000969.5(RPL5):c.435T>C (p.Tyr145=)
|
rs188046229
|
0.00001
|
NM_000969.5(RPL5):c.587G>A (p.Arg196Gln)
|
rs771013653
|
0.00001
|
NM_000969.5(RPL5):c.625C>T (p.Arg209Cys)
|
rs770095159
|
0.00001
|
NM_000996.4(RPL35A):c.11+17T>C
|
rs780298603
|
0.00001
|
NM_001011.4(RPS7):c.378C>T (p.His126=)
|
rs764498089
|
0.00001
|
NM_001011.4(RPS7):c.77C>T (p.Ala26Val)
|
rs939123022
|
0.00001
|
NM_001014.5(RPS10):c.312T>A (p.Pro104=)
|
rs775998609
|
0.00001
|
NM_001018113.3(FANCB):c.1226G>A (p.Arg409Gln)
|
rs753030842
|
0.00001
|
NM_001018113.3(FANCB):c.1606C>T (p.Pro536Ser)
|
rs773313492
|
0.00001
|
NM_001018113.3(FANCB):c.1719G>T (p.Glu573Asp)
|
rs773221142
|
0.00001
|
NM_001018113.3(FANCB):c.652G>C (p.Glu218Gln)
|
rs747819351
|
0.00001
|
NM_001018113.3(FANCB):c.800C>T (p.Ser267Leu)
|
rs374217132
|
0.00001
|
NM_001018113.3(FANCB):c.898G>T (p.Val300Phe)
|
rs757610875
|
0.00001
|
NM_001018113.3(FANCB):c.910A>G (p.Ile304Val)
|
rs754238911
|
0.00001
|
NM_001018115.3(FANCD2):c.1077_1078insTGGA (p.Ile360fs)
|
rs763733996
|
0.00001
|
NM_001018115.3(FANCD2):c.1235T>C (p.Ile412Thr)
|
rs148255762
|
0.00001
|
NM_001018115.3(FANCD2):c.1279G>T (p.Val427Phe)
|
rs529893298
|
0.00001
|
NM_001018115.3(FANCD2):c.1366C>A (p.Leu456Ile)
|
rs780374375
|
0.00001
|
NM_001018115.3(FANCD2):c.1414-4A>G
|
rs781613701
|
0.00001
|
NM_001018115.3(FANCD2):c.1480G>T (p.Asp494Tyr)
|
rs1312307141
|
0.00001
|
NM_001018115.3(FANCD2):c.1698C>T (p.Thr566=)
|
rs769844392
|
0.00001
|
NM_001018115.3(FANCD2):c.1895A>G (p.Tyr632Cys)
|
rs770231582
|
0.00001
|
NM_001018115.3(FANCD2):c.2016G>A (p.Pro672=)
|
rs552206789
|
0.00001
|
NM_001018115.3(FANCD2):c.2351C>T (p.Ser784Phe)
|
rs1398046806
|
0.00001
|
NM_001018115.3(FANCD2):c.2715+20C>G
|
rs199714316
|
0.00001
|
NM_001018115.3(FANCD2):c.289G>A (p.Val97Ile)
|
rs1480379325
|
0.00001
|
NM_001018115.3(FANCD2):c.3126C>T (p.His1042=)
|
rs552885346
|
0.00001
|
NM_001018115.3(FANCD2):c.3224+8T>A
|
rs1412513898
|
0.00001
|
NM_001018115.3(FANCD2):c.3418G>A (p.Val1140Ile)
|
rs988476435
|
0.00001
|
NM_001018115.3(FANCD2):c.3441T>C (p.Ala1147=)
|
rs533541893
|
0.00001
|
NM_001018115.3(FANCD2):c.3459A>G (p.Glu1153=)
|
rs570459552
|
0.00001
|
NM_001018115.3(FANCD2):c.3527A>G (p.Asn1176Ser)
|
rs764205355
|
0.00001
|
NM_001018115.3(FANCD2):c.3607A>T (p.Ile1203Phe)
|
rs373757862
|
0.00001
|
NM_001018115.3(FANCD2):c.3646A>G (p.Lys1216Glu)
|
rs367552677
|
0.00001
|
NM_001018115.3(FANCD2):c.3706C>T (p.Arg1236Cys)
|
rs771078251
|
0.00001
|
NM_001018115.3(FANCD2):c.3770C>T (p.Ser1257Leu)
|
rs374940277
|
0.00001
|
NM_001018115.3(FANCD2):c.3963+11A>G
|
rs945877549
|
0.00001
|
NM_001018115.3(FANCD2):c.4163A>G (p.Asn1388Ser)
|
rs745472884
|
0.00001
|
NM_001018115.3(FANCD2):c.4189G>A (p.Glu1397Lys)
|
rs753272541
|
0.00001
|
NM_001018115.3(FANCD2):c.4281+22_4281+29del
|
rs878855172
|
0.00001
|
NM_001018115.3(FANCD2):c.4281+69G>A
|
rs754606069
|
0.00001
|
NM_001018115.3(FANCD2):c.4297G>A (p.Glu1433Lys)
|
rs755911397
|
0.00001
|
NM_001018115.3(FANCD2):c.784-9A>G
|
rs1388537203
|
0.00001
|
NM_001018115.3(FANCD2):c.976A>G (p.Lys326Glu)
|
rs183778817
|
0.00001
|
NM_001022.4(RPS19):c.128A>G (p.Lys43Arg)
|
rs1400674746
|
0.00001
|
NM_001022.4(RPS19):c.356+12del
|
rs781789110
|
0.00001
|
NM_001029.5(RPS26):c.266G>A (p.Arg89His)
|
rs764673368
|
0.00001
|
NM_001029.5(RPS26):c.291C>T (p.Pro97=)
|
rs766621663
|
0.00001
|
NM_001029.5(RPS26):c.3+14C>T
|
rs763770729
|
0.00001
|
NM_001029.5(RPS26):c.3+20G>C
|
rs759864837
|
0.00001
|
NM_001029.5(RPS26):c.315T>A (p.Gly105=)
|
rs554297156
|
0.00001
|
NM_001040436.3(YARS2):c.634G>T (p.Glu212Ter)
|
rs762813092
|
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.1185+7G>A
|
rs1322791959
|
0.00001
|
NM_001042492.3(NF1):c.1186-12C>G
|
rs1473811436
|
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.1356A>G (p.Gln452=)
|
rs1324833228
|
0.00001
|
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys)
|
rs137854557
|
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.2054C>G (p.Thr685Ser)
|
rs876658190
|
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.2740C>T (p.Arg914Trp)
|
rs765848298
|
0.00001
|
NM_001042492.3(NF1):c.2803A>C (p.Asn935His)
|
rs786201823
|
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.3359T>C (p.Val1120Ala)
|
rs751571517
|
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.3694C>T (p.Pro1232Ser)
|
rs1482085668
|
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.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.452A>G (p.Asn151Ser)
|
rs1567817981
|
0.00001
|
NM_001042492.3(NF1):c.4635C>T (p.Tyr1545=)
|
rs754023358
|
0.00001
|
NM_001042492.3(NF1):c.4766C>T (p.Thr1589Met)
|
rs185660700
|
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.575G>A (p.Arg192Gln)
|
rs587781670
|
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.6665C>T (p.Thr2222Met)
|
rs369803831
|
0.00001
|
NM_001042492.3(NF1):c.6666G>A (p.Thr2222=)
|
rs780247942
|
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.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.7396A>G (p.Ile2466Val)
|
rs748027595
|
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.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.7729T>C (p.Tyr2577His)
|
rs778143477
|
0.00001
|
NM_001042492.3(NF1):c.7780C>T (p.Arg2594Cys)
|
rs372787215
|
0.00001
|
NM_001042492.3(NF1):c.7869+9T>C
|
rs940367528
|
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_001081.4(CUBN):c.1022A>G (p.Gln341Arg)
|
rs149517557
|
0.00001
|
NM_001081.4(CUBN):c.10795T>C (p.Ser3599Pro)
|
rs1177156381
|
0.00001
|
NM_001081.4(CUBN):c.1272G>T (p.Trp424Cys)
|
rs563035840
|
0.00001
|
NM_001081.4(CUBN):c.1418-9C>A
|
rs779016475
|
0.00001
|
NM_001081.4(CUBN):c.1506G>A (p.Trp502Ter)
|
rs145818316
|
0.00001
|
NM_001081.4(CUBN):c.1644T>C (p.Phe548=)
|
rs559998744
|
0.00001
|
NM_001081.4(CUBN):c.164C>T (p.Thr55Met)
|
rs774556167
|
0.00001
|
NM_001081.4(CUBN):c.1704C>G (p.Leu568=)
|
rs752698463
|
0.00001
|
NM_001081.4(CUBN):c.1865del (p.Thr622fs)
|
rs386833771
|
0.00001
|
NM_001081.4(CUBN):c.2005T>C (p.Ser669Pro)
|
rs751139014
|
0.00001
|
NM_001081.4(CUBN):c.2306G>A (p.Arg769Gln)
|
rs770625165
|
0.00001
|
NM_001081.4(CUBN):c.2441A>G (p.Gln814Arg)
|
rs770392464
|
0.00001
|
NM_001081.4(CUBN):c.2795G>A (p.Cys932Tyr)
|
rs572470830
|
0.00001
|
NM_001081.4(CUBN):c.2822G>A (p.Gly941Glu)
|
rs757185023
|
0.00001
|
NM_001081.4(CUBN):c.2997A>G (p.Thr999=)
|
rs762336429
|
0.00001
|
NM_001081.4(CUBN):c.3096del (p.Ala1031_Tyr1032insTer)
|
rs386833781
|
0.00001
|
NM_001081.4(CUBN):c.3101G>C (p.Gly1034Ala)
|
rs778092585
|
0.00001
|
NM_001081.4(CUBN):c.3932G>A (p.Arg1311Gln)
|
rs1037514591
|
0.00001
|
NM_001081.4(CUBN):c.4907G>T (p.Arg1636Leu)
|
rs538984401
|
0.00001
|
NM_001081.4(CUBN):c.4959G>A (p.Ala1653=)
|
rs577984421
|
0.00001
|
NM_001081.4(CUBN):c.5131G>A (p.Ala1711Thr)
|
rs768182223
|
0.00001
|
NM_001081.4(CUBN):c.5416C>A (p.His1806Asn)
|
rs146438022
|
0.00001
|
NM_001081.4(CUBN):c.5469C>T (p.Ile1823=)
|
rs754694753
|
0.00001
|
NM_001081.4(CUBN):c.5548A>T (p.Ile1850Leu)
|
rs200277745
|
0.00001
|
NM_001081.4(CUBN):c.5982G>A (p.Pro1994=)
|
rs560009723
|
0.00001
|
NM_001081.4(CUBN):c.6211A>G (p.Ile2071Val)
|
rs567146793
|
0.00001
|
NM_001081.4(CUBN):c.6728C>T (p.Pro2243Leu)
|
rs544059289
|
0.00001
|
NM_001081.4(CUBN):c.6821+3A>G
|
rs767078847
|
0.00001
|
NM_001081.4(CUBN):c.6847C>T (p.Arg2283Trp)
|
rs150117913
|
0.00001
|
NM_001081.4(CUBN):c.703C>T (p.Arg235Ter)
|
rs1461982823
|
0.00001
|
NM_001081.4(CUBN):c.7331G>A (p.Arg2444Gln)
|
rs11254274
|
0.00001
|
NM_001081.4(CUBN):c.7363G>T (p.Asp2455Tyr)
|
rs761577575
|
0.00001
|
NM_001081.4(CUBN):c.7378A>G (p.Ile2460Val)
|
rs565917798
|
0.00001
|
NM_001081.4(CUBN):c.8222C>A (p.Thr2741Asn)
|
rs771697506
|
0.00001
|
NM_001081.4(CUBN):c.8463G>A (p.Trp2821Ter)
|
rs759203841
|
0.00001
|
NM_001081.4(CUBN):c.8566G>A (p.Gly2856Ser)
|
rs371139445
|
0.00001
|
NM_001081.4(CUBN):c.8656G>A (p.Val2886Met)
|
rs200235278
|
0.00001
|
NM_001081.4(CUBN):c.9297C>T (p.Tyr3099=)
|
rs754292924
|
0.00001
|
NM_001081.4(CUBN):c.9527A>G (p.Asn3176Ser)
|
rs750045664
|
0.00001
|
NM_001083116.3(PRF1):c.1097A>G (p.Gln366Arg)
|
rs957245579
|
0.00001
|
NM_001083116.3(PRF1):c.83G>A (p.Arg28His)
|
rs1230053761
|
0.00001
|
NM_001113378.2(FANCI):c.1055A>G (p.Asn352Ser)
|
rs565007212
|
0.00001
|
NM_001113378.2(FANCI):c.1148T>C (p.Val383Ala)
|
rs1012254525
|
0.00001
|
NM_001113378.2(FANCI):c.1305G>A (p.Met435Ile)
|
rs1390853875
|
0.00001
|
NM_001113378.2(FANCI):c.13A>G (p.Ile5Val)
|
rs200186938
|
0.00001
|
NM_001113378.2(FANCI):c.1519C>T (p.Leu507Phe)
|
rs762294213
|
0.00001
|
NM_001113378.2(FANCI):c.1698+6G>T
|
rs762886638
|
0.00001
|
NM_001113378.2(FANCI):c.1805G>A (p.Arg602Gln)
|
rs201641791
|
0.00001
|
NM_001113378.2(FANCI):c.1A>G (p.Met1Val)
|
rs781249928
|
0.00001
|
NM_001113378.2(FANCI):c.217A>T (p.Ile73Phe)
|
rs138808921
|
0.00001
|
NM_001113378.2(FANCI):c.2204T>C (p.Ile735Thr)
|
rs911033971
|
0.00001
|
NM_001113378.2(FANCI):c.233C>T (p.Ser78Leu)
|
rs754443451
|
0.00001
|
NM_001113378.2(FANCI):c.2350A>C (p.Ile784Leu)
|
rs1421332670
|
0.00001
|
NM_001113378.2(FANCI):c.2544G>C (p.Gln848His)
|
rs777269384
|
0.00001
|
NM_001113378.2(FANCI):c.2568_2569del (p.Gly857fs)
|
rs1385885533
|
0.00001
|
NM_001113378.2(FANCI):c.2614C>G (p.Gln872Glu)
|
rs1368909419
|
0.00001
|
NM_001113378.2(FANCI):c.2684C>T (p.Ser895Leu)
|
rs762647324
|
0.00001
|
NM_001113378.2(FANCI):c.2753C>T (p.Ala918Val)
|
rs748546731
|
0.00001
|
NM_001113378.2(FANCI):c.2845G>A (p.Val949Ile)
|
rs767462150
|
0.00001
|
NM_001113378.2(FANCI):c.2879G>A (p.Arg960Gln)
|
rs151267266
|
0.00001
|
NM_001113378.2(FANCI):c.2977T>A (p.Ser993Thr)
|
rs1194951081
|
0.00001
|
NM_001113378.2(FANCI):c.3044A>G (p.Lys1015Arg)
|
rs150387641
|
0.00001
|
NM_001113378.2(FANCI):c.3059-17T>A
|
rs778641563
|
0.00001
|
NM_001113378.2(FANCI):c.3133C>G (p.Leu1045Val)
|
rs1343059856
|
0.00001
|
NM_001113378.2(FANCI):c.3206C>G (p.Thr1069Arg)
|
rs763822728
|
0.00001
|
NM_001113378.2(FANCI):c.3400A>G (p.Ile1134Val)
|
rs377630829
|
0.00001
|
NM_001113378.2(FANCI):c.3428C>T (p.Thr1143Ile)
|
rs772071601
|
0.00001
|
NM_001113378.2(FANCI):c.3457C>G (p.Leu1153Val)
|
rs368451326
|
0.00001
|
NM_001113378.2(FANCI):c.3521C>G (p.Thr1174Arg)
|
rs757106031
|
0.00001
|
NM_001113378.2(FANCI):c.3592-16C>T
|
rs754610218
|
0.00001
|
NM_001113378.2(FANCI):c.3592-9G>A
|
rs200021557
|
0.00001
|
NM_001113378.2(FANCI):c.3652-9T>C
|
rs971308997
|
0.00001
|
NM_001113378.2(FANCI):c.3656A>G (p.Lys1219Arg)
|
rs757964620
|
0.00001
|
NM_001113378.2(FANCI):c.3898G>A (p.Glu1300Lys)
|
rs780404413
|
0.00001
|
NM_001113378.2(FANCI):c.3931G>T (p.Ala1311Ser)
|
rs754573704
|
0.00001
|
NM_001113378.2(FANCI):c.418A>G (p.Lys140Glu)
|
rs1410323660
|
0.00001
|
NM_001113378.2(FANCI):c.571G>A (p.Val191Met)
|
rs1296106146
|
0.00001
|
NM_001113378.2(FANCI):c.716C>T (p.Ala239Val)
|
rs749779839
|
0.00001
|
NM_001113378.2(FANCI):c.811A>G (p.Ile271Val)
|
rs778263817
|
0.00001
|
NM_001113378.2(FANCI):c.905A>G (p.Asn302Ser)
|
rs575416245
|
0.00001
|
NM_001142864.4(PIEZO1):c.4992G>A (p.Leu1664=)
|
rs186462241
|
0.00001
|
NM_001164277.2(SLC37A4):c.1214C>T (p.Ala405Val)
|
rs782753044
|
0.00001
|
NM_001164277.2(SLC37A4):c.1215G>A (p.Ala405=)
|
rs1043721709
|
0.00001
|
NM_001164277.2(SLC37A4):c.149-3C>T
|
rs782625122
|
0.00001
|
NM_001164277.2(SLC37A4):c.264C>T (p.Gly88=)
|
rs782292086
|
0.00001
|
NM_001164277.2(SLC37A4):c.376C>T (p.Arg126Trp)
|
rs946341075
|
0.00001
|
NM_001164277.2(SLC37A4):c.433A>G (p.Met145Val)
|
rs863224210
|
0.00001
|
NM_001164277.2(SLC37A4):c.448G>A (p.Gly150Arg)
|
rs193302883
|
0.00001
|
NM_001164277.2(SLC37A4):c.503C>T (p.Thr168Met)
|
rs754982680
|
0.00001
|
NM_001164277.2(SLC37A4):c.59G>A (p.Gly20Asp)
|
rs193302881
|
0.00001
|
NM_001164277.2(SLC37A4):c.761A>G (p.Glu254Gly)
|
rs781834348
|
0.00001
|
NM_001164277.2(SLC37A4):c.82C>T (p.Arg28Cys)
|
rs193302882
|
0.00001
|
NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His)
|
rs121908978
|
0.00001
|
NM_001164277.2(SLC37A4):c.888C>T (p.Tyr296=)
|
rs782326705
|
0.00001
|
NM_001261826.3(AP3D1):c.2832G>A (p.Glu944=)
|
rs767889885
|
0.00001
|
NM_001364905.1(LRBA):c.3691A>G (p.Ser1231Gly)
|
rs749012995
|
0.00001
|
NM_001364905.1(LRBA):c.5084T>C (p.Val1695Ala)
|
rs200935054
|
0.00001
|
NM_001375808.2(LPIN2):c.2547-1G>A
|
rs145858312
|
0.00001
|
NM_001382567.1(STIM1):c.340C>T (p.Leu114Phe)
|
rs201767533
|
0.00001
|
NM_001382567.1(STIM1):c.605C>T (p.Pro202Leu)
|
rs1242032695
|
0.00001
|
NM_001386140.1(MTTP):c.1636A>G (p.Ile546Val)
|
rs200992175
|
0.00001
|
NM_001386140.1(MTTP):c.863C>A (p.Pro288His)
|
rs1022457887
|
0.00001
|
NM_001754.5(RUNX1):c.421T>G (p.Ser141Ala)
|
rs1182543054
|
0.00001
|
NM_001754.5(RUNX1):c.764A>G (p.His255Arg)
|
rs746977462
|
0.00001
|
NM_001791.4(CDC42):c.510C>T (p.Asp170=)
|
rs200782611
|
0.00001
|
NM_001791.4(CDC42):c.529C>T (p.Leu177=)
|
rs759623419
|
0.00001
|
NM_001814.6(CTSC):c.1097A>T (p.His366Leu)
|
rs751798574
|
0.00001
|
NM_001814.6(CTSC):c.1A>G (p.Met1Val)
|
rs886048742
|
0.00001
|
NM_001972.4(ELANE):c.662G>T (p.Gly221Val)
|
rs756112245
|
0.00001
|
NM_002296.4(LBR):c.1366C>G (p.Leu456Val)
|
rs377110126
|
0.00001
|
NM_002296.4(LBR):c.860T>C (p.Ile287Thr)
|
rs201093644
|
0.00001
|
NM_002454.3(MTRR):c.340C>T (p.Arg114Ter)
|
rs754990692
|
0.00001
|
NM_002454.3(MTRR):c.763C>T (p.Gln255Ter)
|
rs1353165398
|
0.00001
|
NM_002473.6(MYH9):c.1518C>T (p.Leu506=)
|
rs745614690
|
0.00001
|
NM_002473.6(MYH9):c.154G>A (p.Glu52Lys)
|
rs779218645
|
0.00001
|
NM_002473.6(MYH9):c.2230-9C>T
|
rs1221817075
|
0.00001
|
NM_002473.6(MYH9):c.2263C>T (p.Arg755Cys)
|
rs768721880
|
0.00001
|
NM_002473.6(MYH9):c.2500-9C>T
|
rs1364784964
|
0.00001
|
NM_002473.6(MYH9):c.278A>G (p.Asn93Ser)
|
rs1359996610
|
0.00001
|
NM_002473.6(MYH9):c.3193G>A (p.Ala1065Thr)
|
rs1423642805
|
0.00001
|
NM_002473.6(MYH9):c.3397C>G (p.Gln1133Glu)
|
rs368797590
|
0.00001
|
NM_002473.6(MYH9):c.3452C>T (p.Thr1151Met)
|
rs375081687
|
0.00001
|
NM_002473.6(MYH9):c.4128T>C (p.Ser1376=)
|
rs199506931
|
0.00001
|
NM_002473.6(MYH9):c.4298G>A (p.Arg1433His)
|
rs530533580
|
0.00001
|
NM_002473.6(MYH9):c.4306G>A (p.Ala1436Thr)
|
rs373912645
|
0.00001
|
NM_002473.6(MYH9):c.4883C>T (p.Ser1628Leu)
|
rs750410479
|
0.00001
|
NM_002473.6(MYH9):c.4927C>A (p.Leu1643Met)
|
rs727504669
|
0.00001
|
NM_002473.6(MYH9):c.5177G>A (p.Arg1726His)
|
rs777701033
|
0.00001
|
NM_002473.6(MYH9):c.5235G>A (p.Thr1745=)
|
rs727504684
|
0.00001
|
NM_002473.6(MYH9):c.720C>T (p.Arg240=)
|
rs556214390
|
0.00001
|
NM_002473.6(MYH9):c.868+14C>T
|
rs769515479
|
0.00001
|
NM_002473.6(MYH9):c.888G>A (p.Pro296=)
|
rs559813309
|
0.00001
|
NM_002485.5(NBN):c.1030C>T (p.Gln344Ter)
|
rs767215758
|
0.00001
|
NM_002485.5(NBN):c.1034G>T (p.Gly345Val)
|
rs587780089
|
0.00001
|
NM_002485.5(NBN):c.119C>T (p.Ser40Leu)
|
rs587781530
|
0.00001
|
NM_002485.5(NBN):c.1247T>C (p.Met416Thr)
|
rs863224713
|
0.00001
|
NM_002485.5(NBN):c.135T>A (p.His45Gln)
|
rs770618624
|
0.00001
|
NM_002485.5(NBN):c.1754A>G (p.Glu585Gly)
|
rs763926389
|
0.00001
|
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter)
|
rs730881864
|
0.00001
|
NM_002485.5(NBN):c.2149A>T (p.Thr717Ser)
|
rs587780093
|
0.00001
|
NM_002485.5(NBN):c.265C>T (p.Arg89Ter)
|
rs1057516320
|
0.00001
|
NM_002485.5(NBN):c.361G>C (p.Asp121His)
|
rs777916019
|
0.00001
|
NM_002485.5(NBN):c.481-2A>T
|
rs751567476
|
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.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_003200.5(TCF3):c.1327-3C>A
|
rs369551101
|
0.00001
|
NM_003664.5(AP3B1):c.869C>T (p.Pro290Leu)
|
rs759296897
|
0.00001
|
NM_004629.2(FANCG):c.1086C>T (p.Asp362=)
|
rs376623996
|
0.00001
|
NM_004629.2(FANCG):c.124T>C (p.Leu42=)
|
rs775053536
|
0.00001
|
NM_004629.2(FANCG):c.1298G>C (p.Arg433Pro)
|
rs748738986
|
0.00001
|
NM_004629.2(FANCG):c.1354G>A (p.Val452Ile)
|
rs756069860
|
0.00001
|
NM_004629.2(FANCG):c.1365C>G (p.Thr455=)
|
rs767385265
|
0.00001
|
NM_004629.2(FANCG):c.1433+12G>A
|
rs201070684
|
0.00001
|
NM_004629.2(FANCG):c.1492A>C (p.Asn498His)
|
rs748364103
|
0.00001
|
NM_004629.2(FANCG):c.1519G>A (p.Ala507Thr)
|
rs373151602
|
0.00001
|
NM_004629.2(FANCG):c.1589_1591del (p.Asp530_Thr531delinsAla)
|
rs767443643
|
0.00001
|
NM_004629.2(FANCG):c.1688G>A (p.Arg563Gln)
|
rs1309056736
|
0.00001
|
NM_004629.2(FANCG):c.1818C>T (p.Asp606=)
|
rs766524415
|
0.00001
|
NM_004629.2(FANCG):c.313G>T (p.Glu105Ter)
|
rs121434425
|
0.00001
|
NM_004629.2(FANCG):c.500A>G (p.Asn167Ser)
|
rs749946550
|
0.00001
|
NM_004629.2(FANCG):c.549T>C (p.Thr183=)
|
rs1163330730
|
0.00001
|
NM_004629.2(FANCG):c.682G>A (p.Ala228Thr)
|
rs765095688
|
0.00001
|
NM_004629.2(FANCG):c.766C>T (p.His256Tyr)
|
rs753955326
|
0.00001
|
NM_004629.2(FANCG):c.905G>T (p.Ser302Ile)
|
rs61757386
|
0.00001
|
NM_004629.2(FANCG):c.976G>T (p.Glu326Ter)
|
rs754484649
|
0.00001
|
NM_004991.4(MECOM):c.2352T>C (p.Ser784=)
|
rs370860789
|
0.00001
|
NM_005026.5(PIK3CD):c.1955+5C>T
|
rs201785210
|
0.00001
|
NM_005188.4(CBL):c.1028G>A (p.Arg343Gln)
|
rs759585425
|
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_005236.3(ERCC4):c.1217A>G (p.Gln406Arg)
|
rs762147159
|
0.00001
|
NM_005236.3(ERCC4):c.473G>A (p.Arg158His)
|
rs1012646362
|
0.00001
|
NM_005334.3(HCFC1):c.4153A>G (p.Arg1385Gly)
|
rs781783048
|
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.1431G>A (p.Trp477Ter)
|
rs1169744090
|
0.00001
|
NM_005373.3(MPL):c.1566-1G>A
|
rs1570474015
|
0.00001
|
NM_005373.3(MPL):c.981-1G>C
|
rs769297582
|
0.00001
|
NM_005431.2(XRCC2):c.181C>A (p.Leu61Ile)
|
rs569810249
|
0.00001
|
NM_005431.2(XRCC2):c.659A>T (p.Asp220Val)
|
rs765021741
|
0.00001
|
NM_005476.7(GNE):c.1259G>A (p.Arg420Gln)
|
rs780092539
|
0.00001
|
NM_005476.7(GNE):c.2135T>C (p.Met712Thr)
|
rs28937594
|
0.00001
|
NM_005476.7(GNE):c.485G>A (p.Arg162His)
|
rs747640708
|
0.00001
|
NM_005476.7(GNE):c.893T>C (p.Ile298Thr)
|
rs757091387
|
0.00001
|
NM_005957.5(MTHFR):c.1371T>C (p.Asp457=)
|
rs1428673436
|
0.00001
|
NM_005957.5(MTHFR):c.1632+2T>G
|
rs749765738
|
0.00001
|
NM_005957.5(MTHFR):c.416C>T (p.Thr139Met)
|
rs1057519360
|
0.00001
|
NM_006118.4(HAX1):c.407del (p.His136fs)
|
rs748595772
|
0.00001
|
NM_006118.4(HAX1):c.663+1G>A
|
rs41313932
|
0.00001
|
NM_006206.6(PDGFRA):c.1658C>T (p.Pro553Leu)
|
rs1060501502
|
0.00001
|
NM_006206.6(PDGFRA):c.3200T>C (p.Ile1067Thr)
|
rs1346616192
|
0.00001
|
NM_006516.4(SLC2A1):c.152G>A (p.Arg51His)
|
rs201815571
|
0.00001
|
NM_006516.4(SLC2A1):c.679+5G>A
|
rs771386274
|
0.00001
|
NM_006516.4(SLC2A1):c.697G>A (p.Gly233Arg)
|
rs375853334
|
0.00001
|
NM_006996.3(SLC19A2):c.104C>T (p.Ala35Val)
|
rs756487822
|
0.00001
|
NM_007259.5(VPS45):c.200A>G (p.Lys67Arg)
|
rs1348750495
|
0.00001
|
NM_007294.4(BRCA1):c.135-1G>T
|
rs80358158
|
0.00001
|
NM_007294.4(BRCA1):c.1381T>C (p.Phe461Leu)
|
rs62625300
|
0.00001
|
NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter)
|
rs80356898
|
0.00001
|
NM_007294.4(BRCA1):c.1745C>T (p.Thr582Met)
|
rs786202386
|
0.00001
|
NM_007294.4(BRCA1):c.2050C>T (p.Pro684Ser)
|
rs397508934
|
0.00001
|
NM_007294.4(BRCA1):c.20G>A (p.Arg7His)
|
rs144792613
|
0.00001
|
NM_007294.4(BRCA1):c.2138C>G (p.Ser713Ter)
|
rs80357233
|
0.00001
|
NM_007294.4(BRCA1):c.2475del (p.Asp825fs)
|
rs80357970
|
0.00001
|
NM_007294.4(BRCA1):c.301+6T>C
|
rs753859240
|
0.00001
|
NM_007294.4(BRCA1):c.4231A>G (p.Met1411Val)
|
rs587781768
|
0.00001
|
NM_007294.4(BRCA1):c.4384G>A (p.Glu1462Lys)
|
rs141255461
|
0.00001
|
NM_007294.4(BRCA1):c.4485-1G>A
|
rs80358189
|
0.00001
|
NM_007294.4(BRCA1):c.4649C>T (p.Thr1550Ile)
|
rs80357076
|
0.00001
|
NM_007294.4(BRCA1):c.4843G>A (p.Ala1615Thr)
|
rs80356987
|
0.00001
|
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)
|
rs41293459
|
0.00001
|
NM_007294.4(BRCA1):c.527C>T (p.Thr176Met)
|
rs587782747
|
0.00001
|
NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter)
|
rs80356962
|
0.00001
|
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter)
|
rs41293465
|
0.00001
|
NM_007294.4(BRCA1):c.982T>C (p.Cys328Arg)
|
rs748156170
|
0.00001
|
NM_015506.3(MMACHC):c.217C>T (p.Arg73Ter)
|
rs796051995
|
0.00001
|
NM_015506.3(MMACHC):c.222G>C (p.Met74Ile)
|
rs772225967
|
0.00001
|
NM_015506.3(MMACHC):c.230A>G (p.Asp77Gly)
|
rs1217366809
|
0.00001
|
NM_015506.3(MMACHC):c.388T>C (p.Tyr130His)
|
rs372670428
|
0.00001
|
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)
|
rs121918241
|
0.00001
|
NM_015506.3(MMACHC):c.434T>C (p.Ile145Thr)
|
rs759921519
|
0.00001
|
NM_015506.3(MMACHC):c.434dup (p.Ser146fs)
|
rs768978351
|
0.00001
|
NM_015506.3(MMACHC):c.548T>C (p.Val183Ala)
|
rs780926592
|
0.00001
|
NM_015506.3(MMACHC):c.567dup (p.Ile190fs)
|
rs1463495909
|
0.00001
|
NM_015702.3(MMADHC):c.742C>T (p.Arg248Cys)
|
rs544727246
|
0.00001
|
NM_018062.4(FANCL):c.1093-19_1093-9dup
|
rs771654902
|
0.00001
|
NM_018062.4(FANCL):c.273+1G>C
|
rs144729980
|
0.00001
|
NM_018062.4(FANCL):c.28C>G (p.Arg10Gly)
|
rs146690827
|
0.00001
|
NM_018062.4(FANCL):c.308C>A (p.Ala103Glu)
|
rs746623168
|
0.00001
|
NM_018062.4(FANCL):c.401G>T (p.Ser134Ile)
|
rs377429618
|
0.00001
|
NM_018062.4(FANCL):c.50C>G (p.Pro17Arg)
|
rs773768206
|
0.00001
|
NM_018062.4(FANCL):c.525C>T (p.Ala175=)
|
rs757892335
|
0.00001
|
NM_018062.4(FANCL):c.611T>C (p.Met204Thr)
|
rs368900762
|
0.00001
|
NM_018062.4(FANCL):c.621C>T (p.Ile207=)
|
rs374195602
|
0.00001
|
NM_018062.4(FANCL):c.640C>T (p.Leu214Phe)
|
rs765926796
|
0.00001
|
NM_018062.4(FANCL):c.662G>A (p.Arg221Gln)
|
rs761742545
|
0.00001
|
NM_018062.4(FANCL):c.679A>G (p.Arg227Gly)
|
rs778068203
|
0.00001
|
NM_018062.4(FANCL):c.692G>A (p.Gly231Asp)
|
rs1558737546
|
0.00001
|
NM_018062.4(FANCL):c.860T>G (p.Val287Gly)
|
rs61757387
|
0.00001
|
NM_018062.4(FANCL):c.881C>T (p.Ala294Val)
|
rs756695293
|
0.00001
|
NM_018062.4(FANCL):c.884G>A (p.Arg295His)
|
rs375526911
|
0.00001
|
NM_018062.4(FANCL):c.903+10A>G
|
rs779834767
|
0.00001
|
NM_018389.5(SLC35C1):c.116T>C (p.Leu39Ser)
|
rs771587118
|
0.00001
|
NM_018389.5(SLC35C1):c.163A>G (p.Met55Val)
|
rs767671094
|
0.00001
|
NM_020207.7(ERCC6L2):c.3839A>C (p.Gln1280Pro)
|
rs554013810
|
0.00001
|
NM_020937.4(FANCM):c.1115A>G (p.Glu372Gly)
|
rs762845761
|
0.00001
|
NM_020937.4(FANCM):c.1184-20C>A
|
rs763504552
|
0.00001
|
NM_020937.4(FANCM):c.1271G>A (p.Arg424His)
|
rs139726733
|
0.00001
|
NM_020937.4(FANCM):c.1301T>C (p.Ile434Thr)
|
rs763653491
|
0.00001
|
NM_020937.4(FANCM):c.1394A>G (p.Asn465Ser)
|
rs747572587
|
0.00001
|
NM_020937.4(FANCM):c.1411G>A (p.Glu471Lys)
|
rs543029493
|
0.00001
|
NM_020937.4(FANCM):c.1530C>T (p.Gly510=)
|
rs367951081
|
0.00001
|
NM_020937.4(FANCM):c.1604G>A (p.Gly535Asp)
|
rs201076487
|
0.00001
|
NM_020937.4(FANCM):c.1846A>G (p.Arg616Gly)
|
rs763557682
|
0.00001
|
NM_020937.4(FANCM):c.1895G>A (p.Gly632Glu)
|
rs757274359
|
0.00001
|
NM_020937.4(FANCM):c.190G>T (p.Ala64Ser)
|
rs1015238529
|
0.00001
|
NM_020937.4(FANCM):c.1948G>A (p.Glu650Lys)
|
rs763357840
|
0.00001
|
NM_020937.4(FANCM):c.1994A>G (p.Tyr665Cys)
|
rs148250143
|
0.00001
|
NM_020937.4(FANCM):c.220G>A (p.Gly74Arg)
|
rs765227168
|
0.00001
|
NM_020937.4(FANCM):c.2236A>G (p.Thr746Ala)
|
rs764033302
|
0.00001
|
NM_020937.4(FANCM):c.2261G>A (p.Arg754Gln)
|
rs529256568
|
0.00001
|
NM_020937.4(FANCM):c.2266C>T (p.Arg756Cys)
|
rs756870111
|
0.00001
|
NM_020937.4(FANCM):c.2385T>G (p.Ile795Met)
|
rs769468991
|
0.00001
|
NM_020937.4(FANCM):c.2458A>G (p.Asn820Asp)
|
rs765507230
|
0.00001
|
NM_020937.4(FANCM):c.2618G>T (p.Gly873Val)
|
rs766902093
|
0.00001
|
NM_020937.4(FANCM):c.2714A>T (p.Glu905Val)
|
rs770155583
|
0.00001
|
NM_020937.4(FANCM):c.2721T>G (p.Ala907=)
|
rs150172333
|
0.00001
|
NM_020937.4(FANCM):c.2755G>A (p.Glu919Lys)
|
rs184770388
|
0.00001
|
NM_020937.4(FANCM):c.2759C>T (p.Pro920Leu)
|
rs776256629
|
0.00001
|
NM_020937.4(FANCM):c.2807C>T (p.Ser936Leu)
|
rs1594798166
|
0.00001
|
NM_020937.4(FANCM):c.2849A>G (p.Asn950Ser)
|
rs775175323
|
0.00001
|
NM_020937.4(FANCM):c.2999C>G (p.Pro1000Arg)
|
rs751314954
|
0.00001
|
NM_020937.4(FANCM):c.3332T>C (p.Val1111Ala)
|
rs376798467
|
0.00001
|
NM_020937.4(FANCM):c.3587G>A (p.Arg1196His)
|
rs751441742
|
0.00001
|
NM_020937.4(FANCM):c.3611G>A (p.Arg1204His)
|
rs867324948
|
0.00001
|
NM_020937.4(FANCM):c.3658A>T (p.Ile1220Phe)
|
rs201839320
|
0.00001
|
NM_020937.4(FANCM):c.366C>G (p.Ala122=)
|
rs770311755
|
0.00001
|
NM_020937.4(FANCM):c.3837A>G (p.Ala1279=)
|
rs188061266
|
0.00001
|
NM_020937.4(FANCM):c.3854A>G (p.His1285Arg)
|
rs749696321
|
0.00001
|
NM_020937.4(FANCM):c.3888C>A (p.Ile1296=)
|
rs764040527
|
0.00001
|
NM_020937.4(FANCM):c.3898G>A (p.Glu1300Lys)
|
rs751795256
|
0.00001
|
NM_020937.4(FANCM):c.410T>C (p.Val137Ala)
|
rs748823532
|
0.00001
|
NM_020937.4(FANCM):c.4126G>A (p.Ala1376Thr)
|
rs373590893
|
0.00001
|
NM_020937.4(FANCM):c.4189A>G (p.Met1397Val)
|
rs376581960
|
0.00001
|
NM_020937.4(FANCM):c.4193A>G (p.Tyr1398Cys)
|
rs534229547
|
0.00001
|
NM_020937.4(FANCM):c.422C>T (p.Ala141Val)
|
rs774380823
|
0.00001
|
NM_020937.4(FANCM):c.4565A>G (p.Asp1522Gly)
|
rs199514189
|
0.00001
|
NM_020937.4(FANCM):c.4672G>C (p.Asp1558His)
|
rs1251556461
|
0.00001
|
NM_020937.4(FANCM):c.4687G>C (p.Ala1563Pro)
|
rs377410891
|
0.00001
|
NM_020937.4(FANCM):c.479T>A (p.Ile160Asn)
|
rs781618421
|
0.00001
|
NM_020937.4(FANCM):c.5048A>G (p.Lys1683Arg)
|
rs763454366
|
0.00001
|
NM_020937.4(FANCM):c.5152G>A (p.Val1718Met)
|
rs371629950
|
0.00001
|
NM_020937.4(FANCM):c.5204C>T (p.Ser1735Leu)
|
rs112745068
|
0.00001
|
NM_020937.4(FANCM):c.5228C>A (p.Ser1743Tyr)
|
rs768392812
|
0.00001
|
NM_020937.4(FANCM):c.5342A>G (p.Asp1781Gly)
|
rs752053357
|
0.00001
|
NM_020937.4(FANCM):c.5397A>T (p.Arg1799Ser)
|
rs759165724
|
0.00001
|
NM_020937.4(FANCM):c.5413A>G (p.Thr1805Ala)
|
rs1195945183
|
0.00001
|
NM_020937.4(FANCM):c.5435C>T (p.Pro1812Leu)
|
rs200095329
|
0.00001
|
NM_020937.4(FANCM):c.5496A>C (p.Glu1832Asp)
|
rs374303319
|
0.00001
|
NM_020937.4(FANCM):c.5533G>A (p.Val1845Ile)
|
rs775021812
|
0.00001
|
NM_020937.4(FANCM):c.809G>A (p.Arg270His)
|
rs759079934
|
0.00001
|
NM_020937.4(FANCM):c.812C>G (p.Ser271Cys)
|
rs767396394
|
0.00001
|
NM_020937.4(FANCM):c.868A>G (p.Ile290Val)
|
rs780426259
|
0.00001
|
NM_021871.4(FGA):c.104G>A (p.Arg35His)
|
rs121909607
|
0.00001
|
NM_021871.4(FGA):c.1560C>T (p.Phe520=)
|
rs778304190
|
0.00001
|
NM_021871.4(FGA):c.1634A>T (p.Glu545Val)
|
rs121909612
|
0.00001
|
NM_021871.4(FGA):c.346G>A (p.Asp116Asn)
|
rs886059153
|
0.00001
|
NM_021871.4(FGA):c.364+1G>A
|
rs778779380
|
0.00001
|
NM_021871.4(FGA):c.532C>T (p.Arg178Ter)
|
rs140911890
|
0.00001
|
NM_021922.3(FANCE):c.1053T>G (p.Leu351=)
|
rs755165473
|
0.00001
|
NM_021922.3(FANCE):c.1114-8G>A
|
rs878854342
|
0.00001
|
NM_021922.3(FANCE):c.1237+20C>G
|
rs755688409
|
0.00001
|
NM_021922.3(FANCE):c.1309A>G (p.Met437Val)
|
rs746770705
|
0.00001
|
NM_021922.3(FANCE):c.1384-14C>T
|
rs558453150
|
0.00001
|
NM_021922.3(FANCE):c.1594A>C (p.Lys532Gln)
|
rs749697038
|
0.00001
|
NM_021922.3(FANCE):c.214C>T (p.Pro72Ser)
|
rs890865684
|
0.00001
|
NM_021922.3(FANCE):c.265C>T (p.Arg89Ter)
|
rs752690798
|
0.00001
|
NM_021922.3(FANCE):c.324G>A (p.Ser108=)
|
rs762826105
|
0.00001
|
NM_021922.3(FANCE):c.330G>A (p.Pro110=)
|
rs757051494
|
0.00001
|
NM_021922.3(FANCE):c.355C>T (p.Gln119Ter)
|
rs121434505
|
0.00001
|
NM_021922.3(FANCE):c.396G>T (p.Trp132Cys)
|
rs866005940
|
0.00001
|
NM_021922.3(FANCE):c.436G>T (p.Val146Leu)
|
rs755204532
|
0.00001
|
NM_021922.3(FANCE):c.533T>G (p.Leu178Trp)
|
rs764017469
|
0.00001
|
NM_021922.3(FANCE):c.652A>G (p.Lys218Glu)
|
rs370659315
|
0.00001
|
NM_021922.3(FANCE):c.662G>A (p.Arg221Gln)
|
rs777849670
|
0.00001
|
NM_021922.3(FANCE):c.862C>T (p.Leu288Phe)
|
rs886061329
|
0.00001
|
NM_021922.3(FANCE):c.977T>G (p.Leu326Trp)
|
rs779336261
|
0.00001
|
NM_021922.3(FANCE):c.999C>T (p.Leu333=)
|
rs776082827
|
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_022725.4(FANCF):c.14T>C (p.Leu5Pro)
|
rs1159900858
|
0.00001
|
NM_022725.4(FANCF):c.332T>C (p.Leu111Pro)
|
rs373385251
|
0.00001
|
NM_022725.4(FANCF):c.380A>G (p.Glu127Gly)
|
rs1216924776
|
0.00001
|
NM_022725.4(FANCF):c.583C>A (p.Arg195Ser)
|
rs1231820160
|
0.00001
|
NM_022725.4(FANCF):c.680A>G (p.His227Arg)
|
rs1248152779
|
0.00001
|
NM_022725.4(FANCF):c.705A>C (p.Gln235His)
|
rs768107677
|
0.00001
|
NM_022725.4(FANCF):c.83C>G (p.Pro28Arg)
|
rs374063561
|
0.00001
|
NM_022725.4(FANCF):c.936A>T (p.Gln312His)
|
rs371631248
|
0.00001
|
NM_024675.4(PALB2):c.1079A>G (p.Asp360Gly)
|
rs876659751
|
0.00001
|
NM_024675.4(PALB2):c.1104T>A (p.Asn368Lys)
|
rs1348407391
|
0.00001
|
NM_024675.4(PALB2):c.1130A>C (p.Gln377Pro)
|
rs1358484245
|
0.00001
|
NM_024675.4(PALB2):c.113C>T (p.Ala38Val)
|
rs371875379
|
0.00001
|
NM_024675.4(PALB2):c.1140_1143del (p.Ser380fs)
|
rs1257545151
|
0.00001
|
NM_024675.4(PALB2):c.1145G>T (p.Ser382Ile)
|
rs515726063
|
0.00001
|
NM_024675.4(PALB2):c.1156A>G (p.Thr386Ala)
|
rs148102335
|
0.00001
|
NM_024675.4(PALB2):c.1164T>C (p.Pro388=)
|
rs1205215998
|
0.00001
|
NM_024675.4(PALB2):c.1178A>G (p.Lys393Arg)
|
rs765898856
|
0.00001
|
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter)
|
rs180177100
|
0.00001
|
NM_024675.4(PALB2):c.127A>G (p.Lys43Glu)
|
rs765125459
|
0.00001
|
NM_024675.4(PALB2):c.1348A>C (p.Asn450His)
|
rs62625274
|
0.00001
|
NM_024675.4(PALB2):c.1383T>A (p.Ser461Arg)
|
rs768482110
|
0.00001
|
NM_024675.4(PALB2):c.1526G>A (p.Gly509Asp)
|
rs786203176
|
0.00001
|
NM_024675.4(PALB2):c.1628A>C (p.Lys543Thr)
|
rs370468259
|
0.00001
|
NM_024675.4(PALB2):c.1696C>T (p.Arg566Cys)
|
rs746582620
|
0.00001
|
NM_024675.4(PALB2):c.1733G>T (p.Ser578Ile)
|
rs587780207
|
0.00001
|
NM_024675.4(PALB2):c.1759G>A (p.Ala587Thr)
|
rs1060502733
|
0.00001
|
NM_024675.4(PALB2):c.195G>A (p.Pro65=)
|
rs751176316
|
0.00001
|
NM_024675.4(PALB2):c.2020G>A (p.Asp674Asn)
|
rs730881885
|
0.00001
|
NM_024675.4(PALB2):c.2026A>C (p.Ile676Leu)
|
rs761478794
|
0.00001
|
NM_024675.4(PALB2):c.2096C>G (p.Ser699Cys)
|
rs780397699
|
0.00001
|
NM_024675.4(PALB2):c.2129C>T (p.Thr710Met)
|
rs759024828
|
0.00001
|
NM_024675.4(PALB2):c.2134G>C (p.Ala712Pro)
|
rs765942523
|
0.00001
|
NM_024675.4(PALB2):c.2197A>G (p.Thr733Ala)
|
rs879254051
|
0.00001
|
NM_024675.4(PALB2):c.2344C>T (p.Pro782Ser)
|
rs786203296
|
0.00001
|
NM_024675.4(PALB2):c.2356C>T (p.His786Tyr)
|
rs786203608
|
0.00001
|
NM_024675.4(PALB2):c.2411C>T (p.Ser804Phe)
|
rs149836639
|
0.00001
|
NM_024675.4(PALB2):c.2435C>T (p.Pro812Leu)
|
rs774502617
|
0.00001
|
NM_024675.4(PALB2):c.2512C>G (p.Gln838Glu)
|
rs750650768
|
0.00001
|
NM_024675.4(PALB2):c.2587-12C>T
|
rs1266683395
|
0.00001
|
NM_024675.4(PALB2):c.2653C>A (p.Pro885Thr)
|
rs878855111
|
0.00001
|
NM_024675.4(PALB2):c.2659A>G (p.Ile887Val)
|
rs533814557
|
0.00001
|
NM_024675.4(PALB2):c.2784G>A (p.Val928=)
|
rs763411245
|
0.00001
|
NM_024675.4(PALB2):c.2821A>G (p.Ile941Val)
|
rs778602038
|
0.00001
|
NM_024675.4(PALB2):c.2869A>C (p.Lys957Gln)
|
rs515726103
|
0.00001
|
NM_024675.4(PALB2):c.2881C>T (p.Leu961=)
|
rs61755166
|
0.00001
|
NM_024675.4(PALB2):c.2896A>G (p.Ile966Val)
|
rs786204248
|
0.00001
|
NM_024675.4(PALB2):c.2920A>G (p.Lys974Glu)
|
rs1418709183
|
0.00001
|
NM_024675.4(PALB2):c.2985A>T (p.Ala995=)
|
rs786202892
|
0.00001
|
NM_024675.4(PALB2):c.3025C>T (p.Pro1009Ser)
|
rs764669864
|
0.00001
|
NM_024675.4(PALB2):c.3106G>C (p.Val1036Leu)
|
rs756906403
|
0.00001
|
NM_024675.4(PALB2):c.3128G>C (p.Gly1043Ala)
|
rs377713277
|
0.00001
|
NM_024675.4(PALB2):c.315G>C (p.Glu105Asp)
|
rs515726108
|
0.00001
|
NM_024675.4(PALB2):c.3225T>A (p.Ser1075Arg)
|
rs202222149
|
0.00001
|
NM_024675.4(PALB2):c.3331C>G (p.Pro1111Ala)
|
rs864622193
|
0.00001
|
NM_024675.4(PALB2):c.3350+16T>G
|
rs515726115
|
0.00001
|
NM_024675.4(PALB2):c.3451C>T (p.Leu1151Phe)
|
rs786203462
|
0.00001
|
NM_024675.4(PALB2):c.3494C>T (p.Ser1165Leu)
|
rs773829275
|
0.00001
|
NM_024675.4(PALB2):c.3538A>G (p.Ile1180Val)
|
rs863224788
|
0.00001
|
NM_024675.4(PALB2):c.37G>A (p.Glu13Lys)
|
rs373287455
|
0.00001
|
NM_024675.4(PALB2):c.541G>C (p.Glu181Gln)
|
rs864622280
|
0.00001
|
NM_024675.4(PALB2):c.735G>A (p.Ala245=)
|
rs371612049
|
0.00001
|
NM_024675.4(PALB2):c.739A>G (p.Thr247Ala)
|
rs786203040
|
0.00001
|
NM_024675.4(PALB2):c.758dup (p.Ser254fs)
|
rs515726126
|
0.00001
|
NM_024675.4(PALB2):c.814G>A (p.Glu272Lys)
|
rs515726127
|
0.00001
|
NM_024675.4(PALB2):c.833T>A (p.Leu278Gln)
|
rs200843485
|
0.00001
|
NM_024675.4(PALB2):c.968C>A (p.Ala323Glu)
|
rs730881882
|
0.00001
|
NM_030943.4(AMN):c.108G>C (p.Trp36Cys)
|
rs199835580
|
0.00001
|
NM_030943.4(AMN):c.207+9G>A
|
rs765056352
|
0.00001
|
NM_030943.4(AMN):c.356G>T (p.Arg119Leu)
|
rs533436439
|
0.00001
|
NM_030943.4(AMN):c.492C>G (p.Arg164=)
|
rs1388154450
|
0.00001
|
NM_030943.4(AMN):c.844-1G>C
|
rs969552874
|
0.00001
|
NM_030943.4(AMN):c.969G>A (p.Arg323=)
|
rs899760936
|
0.00001
|
NM_032043.3(BRIP1):c.1105T>C (p.Tyr369His)
|
rs587781325
|
0.00001
|
NM_032043.3(BRIP1):c.1240C>T (p.Gln414Ter)
|
rs368796923
|
0.00001
|
NM_032043.3(BRIP1):c.1A>G (p.Met1Val)
|
rs764585550
|
0.00001
|
NM_032043.3(BRIP1):c.2867C>T (p.Ser956Leu)
|
rs761639530
|
0.00001
|
NM_032043.3(BRIP1):c.3149C>A (p.Thr1050Asn)
|
rs373040333
|
0.00001
|
NM_032043.3(BRIP1):c.3178G>A (p.Val1060Ile)
|
rs149016505
|
0.00001
|
NM_032043.3(BRIP1):c.3238G>A (p.Asp1080Asn)
|
rs786204230
|
0.00001
|
NM_032043.3(BRIP1):c.3274C>T (p.Pro1092Ser)
|
rs768065626
|
0.00001
|
NM_032043.3(BRIP1):c.3464G>A (p.Gly1155Glu)
|
rs45603843
|
0.00001
|
NM_032043.3(BRIP1):c.752G>A (p.Arg251His)
|
rs780834054
|
0.00001
|
NM_032043.3(BRIP1):c.823A>G (p.Ile275Val)
|
rs587781425
|
0.00001
|
NM_032122.5(DTNBP1):c.324C>T (p.Ile108=)
|
rs367543105
|
0.00001
|
NM_032383.5(HPS3):c.1838C>G (p.Ser613Ter)
|
rs755083879
|
0.00001
|
NM_032383.5(HPS3):c.2464C>T (p.Arg822Ter)
|
rs369855073
|
0.00001
|
NM_032383.5(HPS3):c.2733del (p.Leu911_Leu912insTer)
|
rs765169755
|
0.00001
|
NM_032383.5(HPS3):c.2967T>C (p.Phe989=)
|
rs1170514296
|
0.00001
|
NM_032444.4(SLX4):c.1054C>T (p.His352Tyr)
|
rs1247465227
|
0.00001
|
NM_032444.4(SLX4):c.111C>A (p.Ser37Arg)
|
rs188729744
|
0.00001
|
NM_032444.4(SLX4):c.1162A>T (p.Ser388Cys)
|
rs199774640
|
0.00001
|
NM_032444.4(SLX4):c.1189A>G (p.Lys397Glu)
|
rs202204661
|
0.00001
|
NM_032444.4(SLX4):c.1285C>T (p.Arg429Trp)
|
rs532023958
|
0.00001
|
NM_032444.4(SLX4):c.1301C>T (p.Pro434Leu)
|
rs763337738
|
0.00001
|
NM_032444.4(SLX4):c.1307C>T (p.Ala436Val)
|
rs773539191
|
0.00001
|
NM_032444.4(SLX4):c.1490T>C (p.Leu497Ser)
|
rs200337039
|
0.00001
|
NM_032444.4(SLX4):c.1493C>T (p.Ser498Phe)
|
rs1326014010
|
0.00001
|
NM_032444.4(SLX4):c.1630G>A (p.Asp544Asn)
|
rs773395054
|
0.00001
|
NM_032444.4(SLX4):c.1639A>C (p.Thr547Pro)
|
rs781416857
|
0.00001
|
NM_032444.4(SLX4):c.1753C>T (p.Pro585Ser)
|
rs2040658116
|
0.00001
|
NM_032444.4(SLX4):c.1811C>G (p.Ala604Gly)
|
rs953252183
|
0.00001
|
NM_032444.4(SLX4):c.1872C>T (p.Ser624=)
|
rs767618166
|
0.00001
|
NM_032444.4(SLX4):c.1976C>T (p.Ser659Leu)
|
rs372150541
|
0.00001
|
NM_032444.4(SLX4):c.2077G>A (p.Val693Ile)
|
rs2040629635
|
0.00001
|
NM_032444.4(SLX4):c.2132A>T (p.Tyr711Phe)
|
rs768477511
|
0.00001
|
NM_032444.4(SLX4):c.2245C>T (p.Arg749Cys)
|
rs753926402
|
0.00001
|
NM_032444.4(SLX4):c.2269A>G (p.Thr757Ala)
|
rs1567171612
|
0.00001
|
NM_032444.4(SLX4):c.2273C>T (p.Ala758Val)
|
rs747563780
|
0.00001
|
NM_032444.4(SLX4):c.2289T>C (p.Pro763=)
|
rs1389488864
|
0.00001
|
NM_032444.4(SLX4):c.2389G>A (p.Gly797Ser)
|
rs373595621
|
0.00001
|
NM_032444.4(SLX4):c.2425G>A (p.Glu809Lys)
|
rs546657275
|
0.00001
|
NM_032444.4(SLX4):c.2469G>A (p.Trp823Ter)
|
rs1267428175
|
0.00001
|
NM_032444.4(SLX4):c.247G>A (p.Gly83Ser)
|
rs200319106
|
0.00001
|
NM_032444.4(SLX4):c.2724G>A (p.Pro908=)
|
rs760071419
|
0.00001
|
NM_032444.4(SLX4):c.279C>G (p.Thr93=)
|
rs543091261
|
0.00001
|
NM_032444.4(SLX4):c.2902G>C (p.Glu968Gln)
|
rs777514343
|
0.00001
|
NM_032444.4(SLX4):c.3004A>G (p.Ser1002Gly)
|
rs1047744954
|
0.00001
|
NM_032444.4(SLX4):c.3064C>T (p.Leu1022=)
|
rs1391997347
|
0.00001
|
NM_032444.4(SLX4):c.3105C>T (p.Phe1035=)
|
rs1313995893
|
0.00001
|
NM_032444.4(SLX4):c.3307C>T (p.Arg1103Cys)
|
rs200708159
|
0.00001
|
NM_032444.4(SLX4):c.3578C>T (p.Ser1193Phe)
|
rs368695839
|
0.00001
|
NM_032444.4(SLX4):c.3588T>C (p.Asp1196=)
|
rs112016711
|
0.00001
|
NM_032444.4(SLX4):c.3634G>A (p.Ala1212Thr)
|
rs574844562
|
0.00001
|
NM_032444.4(SLX4):c.3706T>C (p.Trp1236Arg)
|
rs760493361
|
0.00001
|
NM_032444.4(SLX4):c.3741G>A (p.Glu1247=)
|
rs769032315
|
0.00001
|
NM_032444.4(SLX4):c.3800G>A (p.Arg1267His)
|
rs775711964
|
0.00001
|
NM_032444.4(SLX4):c.3806G>C (p.Cys1269Ser)
|
rs779426291
|
0.00001
|
NM_032444.4(SLX4):c.3835A>G (p.Arg1279Gly)
|
rs1252550783
|
0.00001
|
NM_032444.4(SLX4):c.3895_3896del (p.Arg1299fs)
|
rs763914156
|
0.00001
|
NM_032444.4(SLX4):c.3926C>T (p.Ser1309Phe)
|
rs556682517
|
0.00001
|
NM_032444.4(SLX4):c.4019A>G (p.His1340Arg)
|
rs776760390
|
0.00001
|
NM_032444.4(SLX4):c.4334G>A (p.Arg1445Gln)
|
rs756660911
|
0.00001
|
NM_032444.4(SLX4):c.4546G>A (p.Gly1516Arg)
|
rs775915651
|
0.00001
|
NM_032444.4(SLX4):c.4768C>G (p.Gln1590Glu)
|
rs148228302
|
0.00001
|
NM_032444.4(SLX4):c.4822T>G (p.Ser1608Ala)
|
rs1480904013
|
0.00001
|
NM_032444.4(SLX4):c.4824A>G (p.Ser1608=)
|
rs767845523
|
0.00001
|
NM_032444.4(SLX4):c.4892C>T (p.Ser1631Phe)
|
rs763539738
|
0.00001
|
NM_032444.4(SLX4):c.4927G>T (p.Ala1643Ser)
|
rs145557355
|
0.00001
|
NM_032444.4(SLX4):c.5144G>A (p.Ser1715Asn)
|
rs754498907
|
0.00001
|
NM_032444.4(SLX4):c.5214G>A (p.Gly1738=)
|
rs369714623
|
0.00001
|
NM_032444.4(SLX4):c.5223T>G (p.Ser1741Arg)
|
rs200262630
|
0.00001
|
NM_032444.4(SLX4):c.5304G>C (p.Gln1768His)
|
rs1555449297
|
0.00001
|
NM_032444.4(SLX4):c.5410C>T (p.His1804Tyr)
|
rs772332386
|
0.00001
|
NM_032444.4(SLX4):c.5413T>C (p.Cys1805Arg)
|
rs746191123
|
0.00001
|
NM_032444.4(SLX4):c.5467C>T (p.Arg1823Trp)
|
rs771230395
|
0.00001
|
NM_032444.4(SLX4):c.5497C>T (p.Arg1833Trp)
|
rs375100050
|
0.00001
|
NM_032444.4(SLX4):c.635G>A (p.Arg212Gln)
|
rs575953567
|
0.00001
|
NM_032444.4(SLX4):c.703G>C (p.Ala235Pro)
|
rs754917250
|
0.00001
|
NM_032444.4(SLX4):c.799G>A (p.Ala267Thr)
|
rs755289589
|
0.00001
|
NM_032444.4(SLX4):c.860del (p.Ser287fs)
|
rs752720263
|
0.00001
|
NM_032444.4(SLX4):c.983C>T (p.Pro328Leu)
|
rs760336082
|
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.182C>T (p.Ala61Val)
|
rs375349195
|
0.00001
|
NM_033022.4(RPS24):c.91G>A (p.Gly31Arg)
|
rs757084547
|
0.00001
|
NM_058216.3(RAD51C):c.1096C>T (p.Arg366Trp)
|
rs587782449
|
0.00001
|
NM_058216.3(RAD51C):c.164C>T (p.Ala55Val)
|
rs730881928
|
0.00001
|
NM_058216.3(RAD51C):c.214A>G (p.Lys72Glu)
|
rs775224480
|
0.00001
|
NM_058216.3(RAD51C):c.233C>T (p.Thr78Ile)
|
rs112832782
|
0.00001
|
NM_058216.3(RAD51C):c.29T>G (p.Met10Arg)
|
rs730881936
|
0.00001
|
NM_058216.3(RAD51C):c.404+2T>C
|
rs730881931
|
0.00001
|
NM_058216.3(RAD51C):c.406A>T (p.Met136Leu)
|
rs587780254
|
0.00001
|
NM_058216.3(RAD51C):c.414G>C (p.Leu138Phe)
|
rs267606999
|
0.00001
|
NM_058216.3(RAD51C):c.487A>G (p.Ser163Gly)
|
rs776904180
|
0.00001
|
NM_058216.3(RAD51C):c.537C>T (p.His179=)
|
rs372385738
|
0.00001
|
NM_058216.3(RAD51C):c.548T>C (p.Ile183Thr)
|
rs756727559
|
0.00001
|
NM_058216.3(RAD51C):c.607A>G (p.Asn203Asp)
|
rs538884532
|
0.00001
|
NM_058216.3(RAD51C):c.634C>T (p.Arg212Cys)
|
rs137947462
|
0.00001
|
NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter)
|
rs770637624
|
0.00001
|
NM_058216.3(RAD51C):c.710G>A (p.Arg237Gln)
|
rs370393672
|
0.00001
|
NM_058216.3(RAD51C):c.730A>G (p.Ile244Val)
|
rs199886026
|
0.00001
|
NM_058216.3(RAD51C):c.740C>T (p.Pro247Leu)
|
rs2048495457
|
0.00001
|
NM_058216.3(RAD51C):c.772C>T (p.Arg258Cys)
|
rs587782474
|
0.00001
|
NM_058216.3(RAD51C):c.79C>T (p.Leu27=)
|
rs786201775
|
0.00001
|
NM_058216.3(RAD51C):c.904+16G>C
|
rs929872458
|
0.00001
|
NM_058216.3(RAD51C):c.966-8T>G
|
rs1181139153
|
0.00001
|
NM_058216.3(RAD51C):c.97C>T (p.Gln33Ter)
|
rs587782528
|
0.00001
|
NM_080911.3(UNG):c.371A>G (p.His124Arg)
|
rs1035623046
|
0.00001
|
NM_139027.6(ADAMTS13):c.330+2T>C
|
rs1474290508
|
0.00001
|
NM_139027.6(ADAMTS13):c.3400+136T>A
|
rs782166349
|
0.00001
|
NM_139027.6(ADAMTS13):c.3400+93C>T
|
rs587664518
|
0.00001
|
NM_139027.6(ADAMTS13):c.3839G>A (p.Arg1280Gln)
|
rs782213090
|
0.00001
|
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs)
|
rs386834055
|
0.00001
|
NM_152564.5(VPS13B):c.10699C>A (p.Pro3567Thr)
|
rs759972908
|
0.00001
|
NM_152564.5(VPS13B):c.11087G>A (p.Arg3696Gln)
|
rs757726642
|
0.00001
|
NM_152564.5(VPS13B):c.11520del (p.Arg3840fs)
|
rs747217399
|
0.00001
|
NM_152564.5(VPS13B):c.1954A>C (p.Ile652Leu)
|
rs886062537
|
0.00001
|
NM_152564.5(VPS13B):c.2785A>G (p.Ile929Val)
|
rs1222718209
|
0.00001
|
NM_152564.5(VPS13B):c.3031T>C (p.Tyr1011His)
|
rs771021187
|
0.00001
|
NM_152564.5(VPS13B):c.3427C>T (p.Arg1143Ter)
|
rs386834080
|
0.00001
|
NM_152564.5(VPS13B):c.3901C>T (p.Pro1301Ser)
|
rs1326406012
|
0.00001
|
NM_152564.5(VPS13B):c.4888G>T (p.Val1630Leu)
|
rs1824580005
|
0.00001
|
NM_152564.5(VPS13B):c.6947A>G (p.Tyr2316Cys)
|
rs386834104
|
0.00001
|
NM_152564.5(VPS13B):c.7207A>G (p.Ile2403Val)
|
rs765664729
|
0.00001
|
NM_152564.5(VPS13B):c.7979G>A (p.Arg2660His)
|
rs555559192
|
0.00001
|
NM_152564.5(VPS13B):c.8044C>T (p.Arg2682Ter)
|
rs386834110
|
0.00001
|
NM_172351.3(CD46):c.118A>G (p.Thr40Ala)
|
rs753924720
|
0.00001
|
NM_173842.3(IL1RN):c.212T>C (p.Ile71Thr)
|
rs1202378531
|
0.00001
|
NM_181507.2(HPS5):c.2066A>G (p.Glu689Gly)
|
rs564959505
|
0.00001
|
NM_182916.3(TRNT1):c.1010del (p.Thr337fs)
|
rs772805677
|
0.00001
|
NM_182916.3(TRNT1):c.295C>T (p.Arg99Trp)
|
rs759826831
|
0.00001
|
NM_183235.3(RAB27A):c.149del (p.Arg50fs)
|
rs770601673
|
0.00001
|
NM_183235.3(RAB27A):c.400_401del (p.Lys134fs)
|
rs755338751
|
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.895G>A (p.Val299Met)
|
rs756624928
|
0.00001
|
NM_206937.2(LIG4):c.524T>C (p.Ile175Thr)
|
rs373262036
|
0.00001
|
NM_206937.2(LIG4):c.560T>C (p.Ile187Thr)
|
rs199854013
|
0.00001
|
NM_212550.5(BLOC1S3):c.335G>T (p.Arg112Leu)
|
rs1021933564
|
0.00001
|
NR_001566.3(TERC):n.35C>T
|
rs199422260
|
0.00001
|
GRCh37/hg19 16q24.3(chr16:89620873-89881041)
|
|
|
GRCh37/hg19 1p34.1(chr1:45965972-45979054)
|
|
|
NM_000037.4(ANK1):c.2390_2393del
|
|
|
NM_000057.4(BLM):c.1003_1006dup (p.Ser336delinsThrTer)
|
rs1057517359
|
|
NM_000057.4(BLM):c.1090A>T (p.Arg364Ter)
|
rs1567040469
|
|
NM_000057.4(BLM):c.1132_1134delinsTAT (p.His378Tyr)
|
rs1555419713
|
|
NM_000057.4(BLM):c.1195G>A (p.Glu399Lys)
|
rs538728271
|
|
NM_000057.4(BLM):c.1490A>C (p.Gln497Pro)
|
rs368547042
|
|
NM_000057.4(BLM):c.1492A>T (p.Lys498Ter)
|
rs2151158332
|
|
NM_000057.4(BLM):c.14C>T (p.Pro5Leu)
|
rs1567034056
|
|
NM_000057.4(BLM):c.1544dup (p.Asn515fs)
|
rs367543043
|
|
NM_000057.4(BLM):c.205G>A (p.Glu69Lys)
|
rs746195311
|
|
NM_000057.4(BLM):c.2215G>A (p.Gly739Ser)
|
rs745642690
|
|
NM_000057.4(BLM):c.2343_2344dup (p.Asn782fs)
|
rs1555420842
|
|
NM_000057.4(BLM):c.2349_2350del (p.Leu783_Tyr784insTer)
|
rs1555420844
|
|
NM_000057.4(BLM):c.2480T>A (p.Met827Lys)
|
rs748250819
|
|
NM_000057.4(BLM):c.2580_2581del (p.His860fs)
|
rs864622347
|
|
NM_000057.4(BLM):c.2801G>A (p.Trp934Ter)
|
rs1896712163
|
|
NM_000057.4(BLM):c.2875C>T (p.Arg959Ter)
|
rs762354041
|
|
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser)
|
rs367543029
|
|
NM_000057.4(BLM):c.3536C>T (p.Thr1179Ile)
|
rs1555424324
|
|
NM_000057.4(BLM):c.357_358del (p.Cys120fs)
|
rs748186908
|
|
NM_000057.4(BLM):c.3827C>A (p.Ala1276Glu)
|
rs760554566
|
|
NM_000057.4(BLM):c.709del (p.Cys237fs)
|
rs1217879599
|
|
NM_000057.4(BLM):c.813GAA[2] (p.Lys273del)
|
rs587779895
|
|
NM_000057.4(BLM):c.98+1G>T
|
rs750293380
|
|
NM_000059.4(BRCA2):c.1001A>G (p.His334Arg)
|
rs587782016
|
|
NM_000059.4(BRCA2):c.100G>T (p.Glu34Ter)
|
rs80358391
|
|
NM_000059.4(BRCA2):c.1146A>T (p.Lys382Asn)
|
rs431825280
|
|
NM_000059.4(BRCA2):c.1282C>A (p.Leu428Ile)
|
rs547590567
|
|
NM_000059.4(BRCA2):c.1304G>A (p.Arg435Lys)
|
rs398122725
|
|
NM_000059.4(BRCA2):c.1399A>T (p.Lys467Ter)
|
rs80358427
|
|
NM_000059.4(BRCA2):c.1433C>A (p.Thr478Lys)
|
rs431825282
|
|
NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter)
|
rs80358435
|
|
NM_000059.4(BRCA2):c.1517T>C (p.Phe506Ser)
|
rs1249900164
|
|
NM_000059.4(BRCA2):c.15del (p.Glu7fs)
|
rs1064795072
|
|
NM_000059.4(BRCA2):c.1755_1759del (p.Lys585fs)
|
rs80359302
|
|
NM_000059.4(BRCA2):c.1796_1800del (p.Thr598_Ser599insTer)
|
rs276174813
|
|
NM_000059.4(BRCA2):c.1889del (p.Thr630fs)
|
rs80359315
|
|
NM_000059.4(BRCA2):c.1905T>G (p.Asp635Glu)
|
rs1555282154
|
|
NM_000059.4(BRCA2):c.1909+1G>A
|
rs587781629
|
|
NM_000059.4(BRCA2):c.2150del (p.Cys717fs)
|
rs397507618
|
|
NM_000059.4(BRCA2):c.2224C>T (p.Gln742Ter)
|
rs80358494
|
|
NM_000059.4(BRCA2):c.2231C>T (p.Ser744Leu)
|
rs397507282
|
|
NM_000059.4(BRCA2):c.2245A>G (p.Ser749Gly)
|
rs80358495
|
|
NM_000059.4(BRCA2):c.2249A>T (p.Asp750Val)
|
rs1555282574
|
|
NM_000059.4(BRCA2):c.2405A>G (p.Asn802Ser)
|
rs876661089
|
|
NM_000059.4(BRCA2):c.2464T>C (p.Cys822Arg)
|
rs80358512
|
|
NM_000059.4(BRCA2):c.2657A>G (p.Asn886Ser)
|
rs80358526
|
|
NM_000059.4(BRCA2):c.3020G>T (p.Gly1007Val)
|
rs1566227648
|
|
NM_000059.4(BRCA2):c.3109C>T (p.Gln1037Ter)
|
rs80358557
|
|
NM_000059.4(BRCA2):c.3744_3747del (p.Ser1248fs)
|
rs80359403
|
|
NM_000059.4(BRCA2):c.3808G>A (p.Val1270Ile)
|
rs876658938
|
|
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs)
|
rs80359405
|
|
NM_000059.4(BRCA2):c.4131_4132insTGAGGA (p.Thr1378Ter)
|
rs80359429
|
|
NM_000059.4(BRCA2):c.4243G>T (p.Glu1415Ter)
|
rs397507327
|
|
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs)
|
rs80359439
|
|
NM_000059.4(BRCA2):c.4310G>C (p.Ser1437Thr)
|
rs1403318277
|
|
NM_000059.4(BRCA2):c.4396T>A (p.Leu1466Ile)
|
rs1555283763
|
|
NM_000059.4(BRCA2):c.4574A>G (p.His1525Arg)
|
rs397507336
|
|
NM_000059.4(BRCA2):c.4793_4794del (p.Leu1598fs)
|
rs2137510225
|
|
NM_000059.4(BRCA2):c.4825A>G (p.Thr1609Ala)
|
rs876659201
|
|
NM_000059.4(BRCA2):c.4914dup (p.Val1639fs)
|
rs786203494
|
|
NM_000059.4(BRCA2):c.5025T>C (p.Cys1675=)
|
rs370591460
|
|
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs)
|
rs80359479
|
|
NM_000059.4(BRCA2):c.5229_5231del (p.Ser1744del)
|
rs397507349
|
|
NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter)
|
rs80359499
|
|
NM_000059.4(BRCA2):c.5290_5291del (p.Ser1764fs)
|
rs80359503
|
|
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs)
|
rs80359525
|
|
NM_000059.4(BRCA2):c.5661G>A (p.Thr1887=)
|
rs80359793
|
|
NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter)
|
rs41293497
|
|
NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs)
|
rs80359530
|
|
NM_000059.4(BRCA2):c.5747A>G (p.His1916Arg)
|
rs431825334
|
|
NM_000059.4(BRCA2):c.574_575del (p.Met192fs)
|
rs80359533
|
|
NM_000059.4(BRCA2):c.5791C>T (p.Gln1931Ter)
|
rs80358807
|
|
NM_000059.4(BRCA2):c.581G>A (p.Trp194Ter)
|
rs80358809
|
|
NM_000059.4(BRCA2):c.5986G>T (p.Ala1996Ser)
|
rs80358833
|
|
NM_000059.4(BRCA2):c.6030C>A (p.Val2010=)
|
rs786201328
|
|
NM_000059.4(BRCA2):c.610dup (p.Leu204fs)
|
rs80359560
|
|
NM_000059.4(BRCA2):c.6148G>A (p.Val2050Ile)
|
rs80358854
|
|
NM_000059.4(BRCA2):c.6446_6450del (p.Ile2149fs)
|
rs80359593
|
|
NM_000059.4(BRCA2):c.6530T>C (p.Ile2177Thr)
|
rs1060502462
|
|
NM_000059.4(BRCA2):c.6566dup (p.Asn2189fs)
|
rs397507373
|
|
NM_000059.4(BRCA2):c.658_659del (p.Val220fs)
|
rs80359604
|
|
NM_000059.4(BRCA2):c.6600_6601del (p.Phe2200_Ser2201insTer)
|
rs80359607
|
|
NM_000059.4(BRCA2):c.6656C>G (p.Ser2219Ter)
|
rs80358893
|
|
NM_000059.4(BRCA2):c.68-7dup
|
rs276174878
|
|
NM_000059.4(BRCA2):c.6816_6820del (p.Gly2274fs)
|
rs587781803
|
|
NM_000059.4(BRCA2):c.6818G>A (p.Arg2273Lys)
|
rs587782174
|
|
NM_000059.4(BRCA2):c.6826C>A (p.Pro2276Thr)
|
rs80358907
|
|
NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter)
|
rs80358920
|
|
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His)
|
rs28897743
|
|
NM_000059.4(BRCA2):c.7163C>T (p.Thr2388Ile)
|
rs1555286026
|
|
NM_000059.4(BRCA2):c.7420GAA[2] (p.Glu2476del)
|
rs876659222
|
|
NM_000059.4(BRCA2):c.7617+2T>G
|
rs81002843
|
|
NM_000059.4(BRCA2):c.7625C>T (p.Thr2542Met)
|
rs80358989
|
|
NM_000059.4(BRCA2):c.7693G>A (p.Glu2565Lys)
|
rs764761862
|
|
NM_000059.4(BRCA2):c.7781A>G (p.Lys2594Arg)
|
rs876660874
|
|
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe)
|
rs80359014
|
|
NM_000059.4(BRCA2):c.7954G>A (p.Val2652Met)
|
rs1466452770
|
|
NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val)
|
rs80359031
|
|
NM_000059.4(BRCA2):c.7992T>G (p.Ile2664Met)
|
rs80359800
|
|
NM_000059.4(BRCA2):c.8007A>T (p.Arg2669Ser)
|
rs143999963
|
|
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val)
|
rs397507954
|
|
NM_000059.4(BRCA2):c.8332-1G>A
|
rs397507979
|
|
NM_000059.4(BRCA2):c.8332-1G>C
|
rs397507979
|
|
NM_000059.4(BRCA2):c.8488-1G>A
|
rs397507404
|
|
NM_000059.4(BRCA2):c.8677C>T (p.Gln2893Ter)
|
rs397507409
|
|
NM_000059.4(BRCA2):c.8817G>C (p.Lys2939Asn)
|
rs397507414
|
|
NM_000059.4(BRCA2):c.8904del (p.Val2969fs)
|
rs80359730
|
|
NM_000059.4(BRCA2):c.9052_9057del (p.3015KS[2])
|
rs786202063
|
|
NM_000059.4(BRCA2):c.9071A>C (p.Asn3024Thr)
|
rs587781493
|
|
NM_000059.4(BRCA2):c.9113_9115dup (p.Leu3038dup)
|
rs80359749
|
|
NM_000059.4(BRCA2):c.9218A>G (p.Asp3073Gly)
|
rs80359186
|
|
NM_000059.4(BRCA2):c.9252_9255delinsTT (p.Lys3084fs)
|
rs276174918
|
|
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs)
|
rs80359752
|
|
NM_000059.4(BRCA2):c.9275A>T (p.Tyr3092Phe)
|
rs80359195
|
|
NM_000059.4(BRCA2):c.9295A>G (p.Asn3099Asp)
|
rs1555289516
|
|
NM_000059.4(BRCA2):c.92G>A (p.Trp31Ter)
|
rs397508045
|
|
NM_000059.4(BRCA2):c.9403del
|
rs80359760
|
|
NM_000059.4(BRCA2):c.9435_9436del (p.Ser3147fs)
|
rs80359763
|
|
NM_000061.3(BTK):c.1559G>A (p.Arg520Gln)
|
rs128621202
|
|
NM_000064.4(C3):c.1402G>A (p.Gly468Arg)
|
rs148820222
|
|
NM_000064.4(C3):c.1775G>A (p.Arg592Gln)
|
rs121909583
|
|
NM_000064.4(C3):c.1920C>T (p.Ser640=)
|
rs139693406
|
|
NM_000064.4(C3):c.2326G>C (p.Glu776Gln)
|
rs2145417819
|
|
NM_000064.4(C3):c.373dup (p.Leu125fs)
|
rs1337559480
|
|
NM_000064.4(C3):c.453C>T (p.Thr151=)
|
rs148870667
|
|
NM_000064.4(C3):c.4547-16C>G
|
rs1414347444
|
|
NM_000064.4(C3):c.4645C>A (p.Leu1549Met)
|
rs149202905
|
|
NM_000064.4(C3):c.683-4C>G
|
rs377240996
|
|
NM_000064.4(C3):c.965A>G (p.Lys322Arg)
|
rs746892541
|
|
NM_000064.4(C3):c.975C>T (p.Tyr325=)
|
rs1301665029
|
|
NM_000074.3(CD40LG):c.31C>T (p.Arg11Ter)
|
rs193922135
|
|
NM_000081.4(LYST):c.10468G>A (p.Gly3490Arg)
|
|
|
NM_000081.4(LYST):c.10525C>T (p.Arg3509Trp)
|
|
|
NM_000081.4(LYST):c.109A>G (p.Thr37Ala)
|
|
|
NM_000081.4(LYST):c.1259C>T (p.Ala420Val)
|
|
|
NM_000081.4(LYST):c.1676G>A (p.Arg559His)
|
|
|
NM_000081.4(LYST):c.2192A>G (p.Tyr731Cys)
|
|
|
NM_000081.4(LYST):c.2258G>A (p.Ser753Asn)
|
|
|
NM_000081.4(LYST):c.2363+7A>T
|
|
|
NM_000081.4(LYST):c.2480T>A (p.Leu827Gln)
|
|
|
NM_000081.4(LYST):c.3014A>G (p.His1005Arg)
|
|
|
NM_000081.4(LYST):c.3134G>A (p.Ser1045Asn)
|
|
|
NM_000081.4(LYST):c.4265C>T (p.Ala1422Val)
|
|
|
NM_000081.4(LYST):c.4376C>T (p.Pro1459Leu)
|
|
|
NM_000081.4(LYST):c.5135T>C (p.Ile1712Thr)
|
|
|
NM_000081.4(LYST):c.5461-3del
|
rs557545474
|
|
NM_000081.4(LYST):c.5598C>G (p.Ile1866Met)
|
|
|
NM_000081.4(LYST):c.6454A>C (p.Ser2152Arg)
|
|
|
NM_000081.4(LYST):c.6476G>A (p.Gly2159Asp)
|
|
|
NM_000081.4(LYST):c.6673C>A (p.Arg2225Ser)
|
|
|
NM_000081.4(LYST):c.6794TTG[1] (p.Val2266del)
|
|
|
NM_000081.4(LYST):c.7310C>G (p.Ser2437Cys)
|
|
|
NM_000081.4(LYST):c.7461-11_7461-9del
|
rs777633676
|
|
NM_000081.4(LYST):c.7994A>G (p.Asp2665Gly)
|
|
|
NM_000081.4(LYST):c.8426A>G (p.Glu2809Gly)
|
|
|
NM_000081.4(LYST):c.8510C>T (p.Ala2837Val)
|
|
|
NM_000081.4(LYST):c.8980G>A (p.Glu2994Lys)
|
|
|
NM_000081.4(LYST):c.9332A>G (p.Tyr3111Cys)
|
|
|
NM_000081.4(LYST):c.9410C>A (p.Thr3137Asn)
|
|
|
NM_000096.4(CP):c.1del (p.Met1*)
|
rs750317184
|
|
NM_000101.4(CYBA):c.384C>T (p.Gly128=)
|
rs72547285
|
|
NM_000101.4(CYBA):c.7C>T (p.Gln3Ter)
|
rs104894511
|
|
NM_000128.4(F11):c.1075del (p.Ile359fs)
|
rs786204429
|
|
NM_000128.4(F11):c.1234C>T (p.Gln412Ter)
|
rs538083600
|
|
NM_000128.4(F11):c.1313C>A (p.Ser438Ter)
|
rs786204724
|
|
NM_000128.4(F11):c.664G>T (p.Asp222Tyr)
|
rs281875245
|
|
NM_000132.4(F8):c.4121_4124del (p.Ile1374fs)
|
rs387906452
|
|
NM_000132.4(F8):c.4379dup (p.Asn1460fs)
|
rs387906455
|
|
NM_000133.4(F9):c.1024A>G (p.Thr342Ala)
|
rs1603267362
|
|
NM_000135.4(FANCA):c.1034_1035del (p.Glu345fs)
|
rs769580546
|
|
NM_000135.4(FANCA):c.1049G>T (p.Arg350Leu)
|
rs199967286
|
|
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs)
|
rs397507552
|
|
NM_000135.4(FANCA):c.1150G>A (p.Val384Ile)
|
rs751071791
|
|
NM_000135.4(FANCA):c.119C>T (p.Ala40Val)
|
rs563060518
|
|
NM_000135.4(FANCA):c.11C>A (p.Ser4Ter)
|
rs1484087361
|
|
NM_000135.4(FANCA):c.1290G>A (p.Ala430=)
|
rs1800332
|
|
NM_000135.4(FANCA):c.1290G>T (p.Ala430=)
|
rs1800332
|
|
NM_000135.4(FANCA):c.1292dup (p.Leu432fs)
|
rs1416639878
|
|
NM_000135.4(FANCA):c.1294del (p.Leu432fs)
|
rs1211579979
|
|
NM_000135.4(FANCA):c.1345G>A (p.Ala449Thr)
|
rs2040073158
|
|
NM_000135.4(FANCA):c.1359+4A>T
|
rs35476732
|
|
NM_000135.4(FANCA):c.1360-4A>G
|
rs746911316
|
|
NM_000135.4(FANCA):c.1394G>C (p.Cys465Ser)
|
rs2039847109
|
|
NM_000135.4(FANCA):c.1406C>T (p.Ala469Val)
|
rs2039846606
|
|
NM_000135.4(FANCA):c.1470+2T>C
|
rs2039844134
|
|
NM_000135.4(FANCA):c.1594G>C (p.Glu532Gln)
|
rs374490484
|
|
NM_000135.4(FANCA):c.1682C>T (p.Thr561Met)
|
rs148154682
|
|
NM_000135.4(FANCA):c.168_173del (p.Leu57_Asn58del)
|
rs1060501881
|
|
NM_000135.4(FANCA):c.1715+1G>T
|
rs1555552506
|
|
NM_000135.4(FANCA):c.1755C>T (p.Pro585=)
|
rs144704750
|
|
NM_000135.4(FANCA):c.1794C>G (p.Asp598Glu)
|
rs2143422796
|
|
NM_000135.4(FANCA):c.1796C>T (p.Ser599Phe)
|
rs562319781
|
|
NM_000135.4(FANCA):c.1799G>C (p.Arg600Pro)
|
rs775917892
|
|
NM_000135.4(FANCA):c.1809dup (p.Ile604fs)
|
rs1343140664
|
|
NM_000135.4(FANCA):c.1844dup (p.Ser616fs)
|
rs779375100
|
|
NM_000135.4(FANCA):c.1850_1859del (p.Leu617fs)
|
rs2143393148
|
|
NM_000135.4(FANCA):c.1874G>A (p.Cys625Tyr)
|
rs139235751
|
|
NM_000135.4(FANCA):c.1901-2A>G
|
rs1555549535
|
|
NM_000135.4(FANCA):c.19C>T (p.Pro7Ser)
|
rs780667753
|
|
NM_000135.4(FANCA):c.1A>G (p.Met1Val)
|
rs772751654
|
|
NM_000135.4(FANCA):c.1A>T (p.Met1Leu)
|
rs772751654
|
|
NM_000135.4(FANCA):c.2001dup (p.Ser668fs)
|
rs2143366568
|
|
NM_000135.4(FANCA):c.2015-4G>A
|
rs373954227
|
|
NM_000135.4(FANCA):c.2089G>C (p.Val697Leu)
|
rs376888740
|
|
NM_000135.4(FANCA):c.20C>A (p.Pro7Gln)
|
rs772712346
|
|
NM_000135.4(FANCA):c.2127G>A (p.Pro709=)
|
rs771226546
|
|
NM_000135.4(FANCA):c.2151+1dup
|
rs777971510
|
|
NM_000135.4(FANCA):c.2151+7G>A
|
rs2039330078
|
|
NM_000135.4(FANCA):c.2164CTG[1] (p.Leu723del)
|
rs1567618907
|
|
NM_000135.4(FANCA):c.2172dup (p.Ser725fs)
|
rs1555547955
|
|
NM_000135.4(FANCA):c.2178C>G (p.Phe726Leu)
|
rs1163885123
|
|
NM_000135.4(FANCA):c.2257A>G (p.Met753Val)
|
rs757797015
|
|
NM_000135.4(FANCA):c.2286C>T (p.Leu762=)
|
rs1419118181
|
|
NM_000135.4(FANCA):c.2305C>T (p.Leu769Phe)
|
rs917707717
|
|
NM_000135.4(FANCA):c.2316+1_2316+3del
|
rs2039275264
|
|
NM_000135.4(FANCA):c.2432G>A (p.Gly811Asp)
|
rs201152989
|
|
NM_000135.4(FANCA):c.2492TCT[1] (p.Phe832del)
|
rs1310756192
|
|
NM_000135.4(FANCA):c.2496C>T (p.Phe832=)
|
rs2039260982
|
|
NM_000135.4(FANCA):c.2504+12_2504+14del
|
rs1023581563
|
|
NM_000135.4(FANCA):c.2519C>G (p.Ala840Gly)
|
rs587778313
|
|
NM_000135.4(FANCA):c.2524del (p.Ser842fs)
|
rs1205909298
|
|
NM_000135.4(FANCA):c.2601G>C (p.Lys867Asn)
|
rs746889340
|
|
NM_000135.4(FANCA):c.2602-18G>C
|
rs774316884
|
|
NM_000135.4(FANCA):c.2602-19G>C
|
rs17233225
|
|
NM_000135.4(FANCA):c.2728C>A (p.Leu910Ile)
|
rs1216426444
|
|
NM_000135.4(FANCA):c.2734A>C (p.Thr912Pro)
|
rs1220495259
|
|
NM_000135.4(FANCA):c.2779-5C>G
|
rs753286882
|
|
NM_000135.4(FANCA):c.2812_2830dup (p.Asp944delinsGlyAsnSerThrTer)
|
rs1283284704
|
|
NM_000135.4(FANCA):c.2843A>T (p.Asp948Val)
|
rs193172749
|
|
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp)
|
rs755546887
|
|
NM_000135.4(FANCA):c.2853-15_2856del
|
rs1285346388
|
|
NM_000135.4(FANCA):c.2853-4C>A
|
rs1289126600
|
|
NM_000135.4(FANCA):c.2862C>G (p.Phe954Leu)
|
rs2038844439
|
|
NM_000135.4(FANCA):c.3144C>T (p.Leu1048=)
|
rs1302242291
|
|
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp)
|
rs753063086
|
|
NM_000135.4(FANCA):c.3206T>G (p.Leu1069Arg)
|
rs756620986
|
|
NM_000135.4(FANCA):c.3239+11C>G
|
rs200232122
|
|
NM_000135.4(FANCA):c.3390C>G (p.Ile1130Met)
|
rs373168838
|
|
NM_000135.4(FANCA):c.3409-18C>T
|
rs762166434
|
|
NM_000135.4(FANCA):c.3500T>A (p.Leu1167Ter)
|
rs2038398856
|
|
NM_000135.4(FANCA):c.3551G>A (p.Arg1184Gln)
|
rs147672303
|
|
NM_000135.4(FANCA):c.3630C>T (p.Phe1210=)
|
rs776001484
|
|
NM_000135.4(FANCA):c.3635C>T (p.Ser1212Phe)
|
rs1203053045
|
|
NM_000135.4(FANCA):c.3698C>T (p.Ala1233Val)
|
rs545742908
|
|
NM_000135.4(FANCA):c.3718G>C (p.Glu1240Gln)
|
rs150719428
|
|
NM_000135.4(FANCA):c.3761_3762del (p.Glu1254fs)
|
rs868273545
|
|
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del)
|
rs397507553
|
|
NM_000135.4(FANCA):c.3791_3793del (p.Ser1264del)
|
rs1183256870
|
|
NM_000135.4(FANCA):c.3822C>A (p.Thr1274=)
|
rs1382340096
|
|
NM_000135.4(FANCA):c.3884T>G (p.Leu1295Ter)
|
rs986710868
|
|
NM_000135.4(FANCA):c.38A>G (p.Gln13Arg)
|
rs1264855885
|
|
NM_000135.4(FANCA):c.3918dup (p.Gln1307fs)
|
rs1281446470
|
|
NM_000135.4(FANCA):c.3920del (p.Gln1307fs)
|
rs1228394297
|
|
NM_000135.4(FANCA):c.3961C>T (p.Arg1321Cys)
|
rs755375493
|
|
NM_000135.4(FANCA):c.396T>G (p.Ser132Arg)
|
rs1272640964
|
|
NM_000135.4(FANCA):c.4010+1_4010+18del
|
rs752457319
|
|
NM_000135.4(FANCA):c.4145G>C (p.Arg1382Thr)
|
rs367970303
|
|
NM_000135.4(FANCA):c.4168-2A>G
|
rs1220672299
|
|
NM_000135.4(FANCA):c.4260+6G>C
|
rs374793201
|
|
NM_000135.4(FANCA):c.4260+6G>T
|
rs374793201
|
|
NM_000135.4(FANCA):c.4261-2A>G
|
rs915983602
|
|
NM_000135.4(FANCA):c.4316G>C (p.Arg1439Thr)
|
rs587778322
|
|
NM_000135.4(FANCA):c.505G>A (p.Glu169Lys)
|
rs372691338
|
|
NM_000135.4(FANCA):c.515A>G (p.Lys172Arg)
|
rs2040844359
|
|
NM_000135.4(FANCA):c.523-37TTGTTT[2]
|
rs530849202
|
|
NM_000135.4(FANCA):c.558C>G (p.His186Gln)
|
rs149159377
|
|
NM_000135.4(FANCA):c.558C>T (p.His186=)
|
rs149159377
|
|
NM_000135.4(FANCA):c.560_561insGAGT (p.Gln188fs)
|
rs2143657184
|
|
NM_000135.4(FANCA):c.68C>T (p.Ala23Val)
|
rs776297241
|
|
NM_000135.4(FANCA):c.691G>A (p.Ala231Thr)
|
rs746814384
|
|
NM_000135.4(FANCA):c.710-10G>A
|
rs2040524006
|
|
NM_000135.4(FANCA):c.710-20_710-19del
|
rs2040524550
|
|
NM_000135.4(FANCA):c.742C>A (p.Gln248Lys)
|
rs760744752
|
|
NM_000135.4(FANCA):c.754_755delinsAG (p.Asp252Ser)
|
rs587778324
|
|
NM_000135.4(FANCA):c.776C>G (p.Pro259Arg)
|
rs1598173112
|
|
NM_000135.4(FANCA):c.916_917del (p.Thr306fs)
|
rs764122657
|
|
NM_000135.4(FANCA):c.924C>A (p.Gly308=)
|
rs143255238
|
|
NM_000135.4(FANCA):c.987_990del (p.His330fs)
|
rs772359099
|
|
NM_000135.4(FANCA):c.994C>A (p.Pro332Thr)
|
rs1056497675
|
|
NM_000136.3(FANCC):c.1067C>A (p.Pro356His)
|
rs1060502517
|
|
NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter)
|
rs759900071
|
|
NM_000136.3(FANCC):c.1136T>C (p.Val379Ala)
|
rs745693332
|
|
NM_000136.3(FANCC):c.1244C>T (p.Ala415Val)
|
rs550462055
|
|
NM_000136.3(FANCC):c.12_14delinsAAGATCAA (p.Asp4fs)
|
rs1588353886
|
|
NM_000136.3(FANCC):c.1355_1358delinsGCCA (p.His452_Leu453delinsArgHis)
|
rs1064793615
|
|
NM_000136.3(FANCC):c.1368G>T (p.Met456Ile)
|
rs863224609
|
|
NM_000136.3(FANCC):c.1485G>A (p.Leu495=)
|
rs56082100
|
|
NM_000136.3(FANCC):c.14C>T (p.Ser5Leu)
|
rs1831182314
|
|
NM_000136.3(FANCC):c.1503C>T (p.Gly501=)
|
rs2134454633
|
|
NM_000136.3(FANCC):c.284_293del (p.Cys95fs)
|
rs2136049324
|
|
NM_000136.3(FANCC):c.293T>C (p.Ile98Thr)
|
rs1830583670
|
|
NM_000136.3(FANCC):c.346-1G>A
|
rs1484503633
|
|
NM_000136.3(FANCC):c.455dup (p.Asn152fs)
|
rs774170058
|
|
NM_000136.3(FANCC):c.460del (p.Val154fs)
|
rs1825653076
|
|
NM_000136.3(FANCC):c.487_490del (p.Glu163fs)
|
rs730881708
|
|
NM_000136.3(FANCC):c.489_490del (p.Asn164fs)
|
rs730881708
|
|
NM_000136.3(FANCC):c.568C>T (p.Leu190Phe)
|
rs1800364
|
|
NM_000136.3(FANCC):c.590A>T (p.Asp197Val)
|
rs1064793625
|
|
NM_000136.3(FANCC):c.673G>A (p.Glu225Lys)
|
rs374176091
|
|
NM_000136.3(FANCC):c.67del (p.Asp23fs)
|
rs104886459
|
|
NM_000136.3(FANCC):c.760A>G (p.Met254Val)
|
rs757294568
|
|
NM_000136.3(FANCC):c.843+12G>A
|
rs2135164340
|
|
NM_000136.3(FANCC):c.896+14T>C
|
rs2134966492
|
|
NM_000136.3(FANCC):c.990C>A (p.Ser330Arg)
|
rs374915316
|
|
NM_000136.3(FANCC):c.996G>A (p.Gln332=)
|
rs1825770865
|
|
NM_000146.4(FTL):c.-149G>C
|
rs398124638
|
|
NM_000146.4(FTL):c.-161C>T
|
rs398124636
|
|
NM_000159.4(GCDH):c.91+5G>T
|
rs952356983
|
|
NM_000174.5(GP9):c.70T>C (p.Cys24Arg)
|
rs28933378
|
|
NM_000186.4(CFH):c.1511C>T (p.Thr504Met)
|
rs377008918
|
|
NM_000186.4(CFH):c.1699A>G (p.Arg567Gly)
|
rs757756991
|
|
NM_000186.4(CFH):c.1935G>A (p.Thr645=)
|
rs56035657
|
|
NM_000186.4(CFH):c.2054T>C (p.Ile685Thr)
|
rs1431491220
|
|
NM_000186.4(CFH):c.2072G>C (p.Cys691Ser)
|
rs2149108610
|
|
NM_000186.4(CFH):c.213G>A (p.Trp71Ter)
|
rs1210674261
|
|
NM_000186.4(CFH):c.245-10_245-9dup
|
rs35507625
|
|
NM_000186.4(CFH):c.245-9del
|
rs35507625
|
|
NM_000186.4(CFH):c.245-9dup
|
rs35507625
|
|
NM_000186.4(CFH):c.318T>C (p.Tyr106=)
|
rs1448752091
|
|
NM_000186.4(CFH):c.350+15C>T
|
rs190197472
|
|
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu)
|
rs460897
|
|
NM_000186.4(CFH):c.497G>A (p.Arg166Gln)
|
rs770339409
|
|
NM_000186.4(CFH):c.497G>T (p.Arg166Leu)
|
rs770339409
|
|
NM_000188.3(HK1):c.1370C>T (p.Thr457Met)
|
rs1057517928
|
|
NM_000195.5(HPS1):c.1118C>A (p.Pro373His)
|
rs945250747
|
|
NM_000195.5(HPS1):c.1189del (p.Gln397fs)
|
rs281865084
|
|
NM_000195.5(HPS1):c.1239G>A (p.Pro413=)
|
rs777125097
|
|
NM_000195.5(HPS1):c.1427G>C (p.Arg476Pro)
|
rs757853476
|
|
NM_000195.5(HPS1):c.1440_1459del (p.Ile481fs)
|
rs758028806
|
|
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs)
|
rs281865163
|
|
NM_000195.5(HPS1):c.1533-17C>T
|
rs187227619
|
|
NM_000195.5(HPS1):c.1697C>T (p.Ser566Leu)
|
rs1271147542
|
|
NM_000195.5(HPS1):c.1718C>G (p.Pro573Arg)
|
rs372351461
|
|
NM_000195.5(HPS1):c.1718C>T (p.Pro573Leu)
|
rs372351461
|
|
NM_000195.5(HPS1):c.198G>C (p.Ser66=)
|
rs115265574
|
|
NM_000195.5(HPS1):c.2017T>C (p.Ser673Pro)
|
rs1844268357
|
|
NM_000195.5(HPS1):c.201C>G (p.Asp67Glu)
|
rs973290077
|
|
NM_000195.5(HPS1):c.233_242del (p.Asn78fs)
|
rs773323079
|
|
NM_000195.5(HPS1):c.316C>T (p.Arg106Trp)
|
rs376557022
|
|
NM_000195.5(HPS1):c.467_476del (p.Tyr156fs)
|
rs1846922474
|
|
NM_000195.5(HPS1):c.678_680delinsTGT (p.Ser227Val)
|
rs1554892764
|
|
NM_000195.5(HPS1):c.699C>A (p.Asp233Glu)
|
rs1450596874
|
|
NM_000195.5(HPS1):c.780dup (p.Arg261fs)
|
rs2136197089
|
|
NM_000195.5(HPS1):c.83T>A (p.Leu28Gln)
|
rs374679558
|
|
NM_000195.5(HPS1):c.847G>C (p.Gly283Arg)
|
rs11592273
|
|
NM_000195.5(HPS1):c.847G>T (p.Gly283Trp)
|
rs11592273
|
|
NM_000195.5(HPS1):c.961G>T (p.Gly321Cys)
|
rs551074257
|
|
NM_000195.5(HPS1):c.972del (p.Met325fs)
|
rs281865082
|
|
NM_000195.5(HPS1):c.972dup (p.Met325fs)
|
rs281865082
|
|
NM_000204.5(CFI):c.1176_1177dup (p.Trp393fs)
|
rs758049059
|
|
NM_000204.5(CFI):c.1233C>A (p.Tyr411Ter)
|
rs752671716
|
|
NM_000204.5(CFI):c.1291G>T (p.Ala431Ser)
|
rs758017357
|
|
NM_000204.5(CFI):c.1638G>A (p.Trp546Ter)
|
rs2126178088
|
|
NM_000204.5(CFI):c.192G>C (p.Pro64=)
|
rs571265769
|
|
NM_000204.5(CFI):c.280C>T (p.Leu94Phe)
|
rs1027910523
|
|
NM_000204.5(CFI):c.329-14dup
|
rs754551276
|
|
NM_000204.5(CFI):c.601A>G (p.Arg201Gly)
|
rs887070139
|
|
NM_000204.5(CFI):c.763_772+9delinsGTATCCAC
|
rs2126214430
|
|
NM_000211.5(ITGB2):c.2200G>T (p.Glu734Ter)
|
rs1464015799
|
|
NM_000222.3(KIT):c.2294A>G (p.Asp765Gly)
|
rs1060502545
|
|
NM_000222.3(KIT):c.2887A>G (p.Thr963Ala)
|
rs773709702
|
|
NM_000222.3(KIT):c.302A>G (p.His101Arg)
|
rs1274601103
|
|
NM_000254.3(MTR):c.1348_1349inv (p.Ser450Asp)
|
|
|
NM_000254.3(MTR):c.2640_2642del (p.Ile881del)
|
rs797044443
|
|
NM_000289.6(PFKM):c.159+1G>T
|
rs1305706304
|
|
NM_000298.6(PKLR):c.391_393del (p.Ile131del)
|
rs886045351
|
|
NM_000301.5(PLG):c.1329C>A (p.Ser443Arg)
|
rs756670030
|
|
NM_000301.5(PLG):c.1657G>A (p.Asp553Asn)
|
rs182937977
|
|
NM_000301.5(PLG):c.185+14C>A
|
rs369616302
|
|
NM_000301.5(PLG):c.2019-1G>A
|
rs2115181746
|
|
NM_000301.5(PLG):c.266G>C (p.Arg89Thr)
|
rs143079629
|
|
NM_000301.5(PLG):c.466G>A (p.Asp156Asn)
|
rs756533019
|
|
NM_000301.5(PLG):c.745G>A (p.Asp249Asn)
|
rs532027310
|
|
NM_000301.5(PLG):c.814A>G (p.Thr272Ala)
|
rs754598185
|
|
NM_000301.5(PLG):c.848A>G (p.Tyr283Cys)
|
rs2115163630
|
|
NM_000312.4(PROC):c.263-28T>G
|
rs2104952137
|
|
NM_000312.4(PROC):c.303C>A (p.Cys101Ter)
|
rs764808999
|
|
NM_000312.4(PROC):c.505G>T (p.Gly169Trp)
|
rs989908811
|
|
NM_000312.4(PROC):c.520C>T (p.Gln174Ter)
|
rs1434042239
|
|
NM_000313.4(PROS1):c.*221del
|
rs776969264
|
|
NM_000313.4(PROS1):c.119G>A (p.Arg40His)
|
rs7614835
|
|
NM_000342.4(SLC4A1):c.1030C>T (p.Arg344Ter)
|
rs750930293
|
|
NM_000342.4(SLC4A1):c.1199_1225del (p.Ala400_Ala408del)
|
rs769664228
|
|
NM_000342.4(SLC4A1):c.1331C>G (p.Thr444Ser)
|
rs754973425
|
|
NM_000342.4(SLC4A1):c.1541G>A (p.Arg514His)
|
rs745839527
|
|
NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys)
|
rs121912745
|
|
NM_000342.4(SLC4A1):c.2243G>A (p.Gly748Glu)
|
rs886052996
|
|
NM_000342.4(SLC4A1):c.2344C>T (p.Arg782Cys)
|
rs148317876
|
|
NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp)
|
rs121912751
|
|
NM_000342.4(SLC4A1):c.2702G>C (p.Arg901Pro)
|
rs189300762
|
|
NM_000342.4(SLC4A1):c.2716G>T (p.Glu906Ter)
|
rs199694087
|
|
NM_000342.4(SLC4A1):c.2726T>C (p.Met909Thr)
|
rs2047328405
|
|
NM_000342.4(SLC4A1):c.283G>C (p.Gly95Arg)
|
rs1380205574
|
|
NM_000361.3(THBD):c.1030C>G (p.Gln344Glu)
|
rs376845574
|
|
NM_000361.3(THBD):c.180G>A (p.Met60Ile)
|
rs2122673111
|
|
NM_000361.3(THBD):c.241G>A (p.Val81Ile)
|
rs772288987
|
|
NM_000361.3(THBD):c.898C>T (p.Pro300Ser)
|
rs199987510
|
|
NM_000377.3(WAS):c.1090C>T (p.Arg364Ter)
|
rs2062429013
|
|
NM_000377.3(WAS):c.1203_1211dup (p.Pro402_Pro404dup)
|
rs2062430236
|
|
NM_000377.3(WAS):c.1391A>G (p.Glu464Gly)
|
rs2062432588
|
|
NM_000377.3(WAS):c.1453G>A (p.Asp485Asn)
|
rs1064793293
|
|
NM_000377.3(WAS):c.39_40delinsCC (p.Gly14Arg)
|
rs797044476
|
|
NM_000377.3(WAS):c.470G>A (p.Arg157His)
|
rs369850591
|
|
NM_000377.3(WAS):c.498C>G (p.Ala166=)
|
rs2147264155
|
|
NM_000377.3(WAS):c.560-5dup
|
rs782563873
|
|
NM_000397.4(CYBB):c.1291G>A (p.Ala431Thr)
|
rs1929532655
|
|
NM_000397.4(CYBB):c.252G>A (p.Ala84=)
|
rs387906485
|
|
NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg)
|
rs137852317
|
|
NM_000402.4(G6PD):c.482G>T (p.Gly161Val)
|
rs137852341
|
|
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser)
|
rs137852314
|
|
NM_000419.5(ITGA2B):c.891+12del
|
rs373578804
|
|
NM_000433.4(NCF2):c.1183C>T (p.Arg395Trp)
|
rs13306575
|
|
NM_000488.4(SERPINC1):c.166C>T (p.Arg56Cys)
|
rs28929469
|
|
NM_000488.4(SERPINC1):c.409-12dup
|
rs201656611
|
|
NM_000488.4(SERPINC1):c.442T>C (p.Ser148Pro)
|
rs121909569
|
|
NM_000489.6(ATRX):c.2388A>C (p.Lys796Asn)
|
rs1603220590
|
|
NM_000489.6(ATRX):c.3349A>G (p.Met1117Val)
|
rs1569538741
|
|
NM_000489.6(ATRX):c.4004G>T (p.Arg1335Ile)
|
rs1569536694
|
|
NM_000489.6(ATRX):c.4332AGA[1] (p.Glu1448del)
|
rs1356648720
|
|
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys)
|
rs122445105
|
|
NM_000505.4(F12):c.983C>A (p.Thr328Lys)
|
rs118204456
|
|
NM_000508.3(FGA):c.1717C>T (p.Arg573Cys)
|
rs121909613
|
|
NM_000508.5(FGA):c.2350C>T (p.Gln784Ter)
|
rs148824832
|
|
NM_000517.6(HBA2):c.*94A>G
|
rs63751269
|
|
NM_000517.6(HBA2):c.-59C>T
|
rs1277780626
|
|
NM_000517.6(HBA2):c.301-1G>A
|
rs587776827
|
|
NM_000517.6(HBA2):c.369C>G (p.His123Gln)
|
rs41479347
|
|
NM_000517.6(HBA2):c.377T>C (p.Leu126Pro)
|
rs41397847
|
|
NM_000517.6(HBA2):c.95+2_95+6del
|
rs41474145
|
|
NM_000518.4(HBB):c.364G>A (p.Glu122Lys)
|
rs33946267
|
|
NM_000518.4(HBB):c.68A>T (p.Glu23Val)
|
rs33936254
|
|
NM_000518.5(HBB):c.-137C>G
|
rs33941377
|
|
NM_000518.5(HBB):c.-138C>A
|
rs33944208
|
|
NM_000518.5(HBB):c.-78A>C
|
rs33931746
|
|
NM_000518.5(HBB):c.112del (p.Trp38fs)
|
rs63750532
|
|
NM_000518.5(HBB):c.126_129del (p.Phe42fs)
|
rs80356821
|
|
NM_000518.5(HBB):c.135del (p.Phe46fs)
|
rs80356820
|
|
NM_000518.5(HBB):c.169G>A (p.Gly57Ser)
|
rs33935983
|
|
NM_000518.5(HBB):c.17_18del (p.Pro6fs)
|
rs34889882
|
|
NM_000518.5(HBB):c.184A>T (p.Lys62Ter)
|
rs33995148
|
|
NM_000518.5(HBB):c.203_204del (p.Val68fs)
|
rs34282684
|
|
NM_000518.5(HBB):c.205C>T (p.Leu69Phe)
|
rs33961459
|
|
NM_000518.5(HBB):c.27dup (p.Ser10fs)
|
rs35699606
|
|
NM_000518.5(HBB):c.316-3C>A
|
rs33913413
|
|
NM_000518.5(HBB):c.316-3C>T
|
rs33913413
|
|
NM_000518.5(HBB):c.402G>A (p.Val134=)
|
rs113082294
|
|
NM_000518.5(HBB):c.92+1G>T
|
rs33971440
|
|
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter)
|
rs730882029
|
|
NM_000546.6(TP53):c.389T>C (p.Leu130Pro)
|
rs1131691013
|
|
NM_000546.6(TP53):c.677G>C (p.Gly226Ala)
|
rs970212462
|
|
NM_000546.6(TP53):c.722C>T (p.Ser241Phe)
|
rs28934573
|
|
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>T (p.Arg273Leu)
|
rs28934576
|
|
NM_000546.6(TP53):c.845G>C (p.Arg282Pro)
|
rs730882008
|
|
NM_000551.4(VHL):c.-10C>T
|
rs1192379474
|
|
NM_000551.4(VHL):c.-9_5dup (p.Ala5fs)
|
rs730882038
|
|
NM_000551.4(VHL):c.116G>T (p.Gly39Val)
|
rs368473853
|
|
NM_000551.4(VHL):c.125A>C (p.Glu42Ala)
|
rs1064796244
|
|
NM_000551.4(VHL):c.130G>C (p.Gly44Arg)
|
rs1575921446
|
|
NM_000551.4(VHL):c.154G>T (p.Glu52Ter)
|
rs373068386
|
|
NM_000551.4(VHL):c.167C>T (p.Ala56Val)
|
rs752980085
|
|
NM_000551.4(VHL):c.181C>G (p.Pro61Ala)
|
rs113612866
|
|
NM_000551.4(VHL):c.221T>C (p.Val74Ala)
|
rs5030803
|
|
NM_000551.4(VHL):c.235C>G (p.Arg79Gly)
|
rs200885420
|
|
NM_000551.4(VHL):c.251T>C (p.Val84Ala)
|
rs1264207864
|
|
NM_000551.4(VHL):c.319C>G (p.Arg107Gly)
|
rs397516440
|
|
NM_000551.4(VHL):c.36G>C (p.Glu12Asp)
|
rs973493604
|
|
NM_000551.4(VHL):c.398C>T (p.Thr133Ile)
|
rs1060503565
|
|
NM_000551.4(VHL):c.3G>A (p.Met1Ile)
|
rs578091032
|
|
NM_000551.4(VHL):c.3G>T (p.Met1Ile)
|
rs578091032
|
|
NM_000551.4(VHL):c.422A>G (p.Asn141Ser)
|
rs1064796570
|
|
NM_000551.4(VHL):c.430G>A (p.Gly144Arg)
|
rs869025650
|
|
NM_000551.4(VHL):c.463+9G>A
|
rs1057522720
|
|
NM_000551.4(VHL):c.464-2A>G
|
rs5030816
|
|
NM_000551.4(VHL):c.508G>A (p.Val170Ile)
|
rs1553620326
|
|
NM_000551.4(VHL):c.530G>C (p.Arg177Thr)
|
rs1470394966
|
|
NM_000551.4(VHL):c.574C>T (p.Pro192Ser)
|
rs28940300
|
|
NM_000551.4(VHL):c.70G>T (p.Gly24Cys)
|
rs1438223626
|
|
NM_000551.4(VHL):c.88G>C (p.Gly30Arg)
|
rs913104799
|
|
NM_000552.5(VWF):c.2435del (p.Pro812fs)
|
rs62643632
|
|
NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln)
|
rs61749370
|
|
NM_000552.5(VWF):c.3946G>A (p.Val1316Met)
|
rs61749397
|
|
NM_000552.5(VWF):c.4273A>T (p.Ile1425Phe)
|
rs61750083
|
|
NM_000552.5(VWF):c.5673C>G (p.Asp1891Glu)
|
rs369450995
|
|
NM_000558.5(HBA1):c.328del (p.Leu110fs)
|
rs281864535
|
|
NM_000558.5(HBA1):c.332C>A (p.Ala111Asp)
|
rs63749948
|
|
NM_000558.5(HBA1):c.94_95del (p.Arg32fs)
|
rs1596573477
|
|
NM_000631.5(NCF4):c.170G>T (p.Arg57Leu)
|
rs746353194
|
|
NM_000631.5(NCF4):c.758+62C>T
|
rs944647165
|
|
NM_000760.4(CSF3R):c.843+2T>C
|
rs1650834071
|
|
NM_000821.7(GGCX):c.1217G>A (p.Arg406His)
|
rs139574592
|
|
NM_000969.5(RPL5):c.3+11G>A
|
rs376414614
|
|
NM_000969.5(RPL5):c.344T>C (p.Met115Thr)
|
rs1687118423
|
|
NM_000969.5(RPL5):c.426C>G (p.Phe142Leu)
|
rs11540836
|
|
NM_000969.5(RPL5):c.664C>T (p.Gln222Ter)
|
rs587777118
|
|
NM_000969.5(RPL5):c.794+16_794+19del
|
rs747509136
|
|
NM_000969.5(RPL5):c.794+19dup
|
rs747509136
|
|
NM_000975.5(RPL11):c.14A>G (p.Gln5Arg)
|
rs775235867
|
|
NM_000975.5(RPL11):c.68A>G (p.Asn23Ser)
|
rs2124429076
|
|
NM_000987.5(RPL26):c.-5-16_-5-15del
|
rs533883480
|
|
NM_000987.5(RPL26):c.377G>A (p.Arg126His)
|
rs932068728
|
|
NM_000996.4(RPL35A):c.282T>C (p.Ala94=)
|
rs201018840
|
|
NM_000996.4(RPL35A):c.309+4A>T
|
rs1270507770
|
|
NM_001001548.3(CD36):c.332_333del (p.Thr111fs)
|
rs572295823
|
|
NM_001006658.3(CR2):c.624C>G (p.Pro208=)
|
rs61759494
|
|
NM_001011.4(RPS7):c.-19+13C>T
|
rs530845583
|
|
NM_001011.4(RPS7):c.133A>G (p.Ile45Val)
|
rs1661264441
|
|
NM_001011.4(RPS7):c.357-3del
|
rs140914434
|
|
NM_001012339.3(DNAJC21):c.1016G>A (p.Arg339Gln)
|
rs142389949
|
|
NM_001012339.3(DNAJC21):c.1368del (p.Lys456fs)
|
rs756768331
|
|
NM_001018113.3(FANCB):c.1105-26TATT[4]
|
rs398123537
|
|
NM_001018113.3(FANCB):c.1130A>G (p.Asp377Gly)
|
rs2147425036
|
|
NM_001018113.3(FANCB):c.1317T>A (p.Ser439Arg)
|
rs776802337
|
|
NM_001018113.3(FANCB):c.1487C>G (p.Ser496Cys)
|
rs993307430
|
|
NM_001018113.3(FANCB):c.1615T>C (p.Tyr539His)
|
rs2147391126
|
|
NM_001018113.3(FANCB):c.1767A>G (p.Thr589=)
|
rs964099207
|
|
NM_001018113.3(FANCB):c.1838G>C (p.Arg613Pro)
|
rs144764663
|
|
NM_001018113.3(FANCB):c.2565_2569delinsTTTATAATTCTGT (p.Lys855_Ser857delinsAsnLeuTer)
|
rs2147386189
|
|
NM_001018113.3(FANCB):c.306T>A (p.Asn102Lys)
|
rs2147447239
|
|
NM_001018113.3(FANCB):c.593A>C (p.Gln198Pro)
|
rs2092462570
|
|
NM_001018113.3(FANCB):c.706G>A (p.Val236Met)
|
rs746389250
|
|
NM_001018115.3(FANCD2):c.1601A>T (p.Tyr534Phe)
|
rs143701205
|
|
NM_001018115.3(FANCD2):c.1614A>G (p.Thr538=)
|
rs141824395
|
|
NM_001018115.3(FANCD2):c.1657-5T>G
|
rs2125026589
|
|
NM_001018115.3(FANCD2):c.1866_1867delinsAT (p.Gln623Ter)
|
rs2125032674
|
|
NM_001018115.3(FANCD2):c.1917C>A (p.Ile639=)
|
rs151224882
|
|
NM_001018115.3(FANCD2):c.1954G>A (p.Val652Ile)
|
rs1381447946
|
|
NM_001018115.3(FANCD2):c.2030C>T (p.Pro677Leu)
|
rs2087667280
|
|
NM_001018115.3(FANCD2):c.2276C>T (p.Pro759Leu)
|
rs758628578
|
|
NM_001018115.3(FANCD2):c.230del (p.Lys77fs)
|
rs770835633
|
|
NM_001018115.3(FANCD2):c.2396C>A (p.Ala799Asp)
|
rs1193547837
|
|
NM_001018115.3(FANCD2):c.2605+2dup
|
rs2125048104
|
|
NM_001018115.3(FANCD2):c.2845G>T (p.Glu949Ter)
|
rs762724830
|
|
NM_001018115.3(FANCD2):c.302_303del (p.Glu101fs)
|
rs2124975164
|
|
NM_001018115.3(FANCD2):c.3095del (p.Asn1032fs)
|
rs1559399574
|
|
NM_001018115.3(FANCD2):c.3209A>G (p.His1070Arg)
|
rs759516610
|
|
NM_001018115.3(FANCD2):c.3224+1G>T
|
rs1468320596
|
|
NM_001018115.3(FANCD2):c.378-6_378-5del
|
rs55973240
|
|
NM_001018115.3(FANCD2):c.3962G>C (p.Arg1321Pro)
|
rs147205530
|
|
NM_001018115.3(FANCD2):c.4234_4239del (p.Ser1412_Glu1413del)
|
rs766605179
|
|
NM_001018115.3(FANCD2):c.531C>G (p.Val177=)
|
rs747006885
|
|
NM_001018115.3(FANCD2):c.64+2T>G
|
rs2124961184
|
|
NM_001018115.3(FANCD2):c.707_708del (p.Ile236fs)
|
rs2086865775
|
|
NM_001018115.3(FANCD2):c.92del (p.Lys31fs)
|
rs1378830983
|
|
NM_001018115.3(FANCD2):c.99_102del (p.Lys33fs)
|
rs1283566463
|
|
NM_001022.4(RPS19):c.245G>A (p.Arg82His)
|
rs782814286
|
|
NM_001022.4(RPS19):c.356+18G>C
|
rs61762294
|
|
NM_001022.4(RPS19):c.75C>T (p.Ser25=)
|
rs370343297
|
|
NM_001029.5(RPS26):c.-22C>G
|
rs1131017
|
|
NM_001029.5(RPS26):c.181+19C>G
|
rs201040758
|
|
NM_001029.5(RPS26):c.181+6_181+7del
|
rs746906342
|
|
NM_001029.5(RPS26):c.3+7C>G
|
rs115750993
|
|
NM_001029.5(RPS26):c.3+9T>A
|
rs545595719
|
|
NM_001032.5(RPS29):c.163-4del
|
rs373877728
|
|
NM_001042492.3(NF1):c.1020dup (p.Val341fs)
|
rs1555610905
|
|
NM_001042492.3(NF1):c.1070T>C (p.Leu357Pro)
|
rs137854563
|
|
NM_001042492.3(NF1):c.1185+20T>G
|
rs2066522265
|
|
NM_001042492.3(NF1):c.1186-6C>T
|
rs200684215
|
|
NM_001042492.3(NF1):c.1246C>T (p.Arg416Ter)
|
rs764079291
|
|
NM_001042492.3(NF1):c.1509T>C (p.Asp503=)
|
rs1597698493
|
|
NM_001042492.3(NF1):c.15G>T (p.Arg5Ser)
|
rs1567786804
|
|
NM_001042492.3(NF1):c.1721+6T>C
|
rs2144005065
|
|
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.2001+11_2001+13del
|
rs750468034
|
|
NM_001042492.3(NF1):c.2158C>T (p.Arg720Trp)
|
rs759679443
|
|
NM_001042492.3(NF1):c.2252-18G>C
|
rs754583248
|
|
NM_001042492.3(NF1):c.2266C>T (p.Gln756Ter)
|
rs1567847905
|
|
NM_001042492.3(NF1):c.2281G>A (p.Ala761Thr)
|
rs786202504
|
|
NM_001042492.3(NF1):c.2325+4T>C
|
rs1555613934
|
|
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.2440A>G (p.Lys814Glu)
|
rs1555614184
|
|
NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter)
|
rs886041347
|
|
NM_001042492.3(NF1):c.2543G>A (p.Gly848Glu)
|
rs199474748
|
|
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.2693T>C (p.Leu898Pro)
|
rs199474786
|
|
NM_001042492.3(NF1):c.2694G>A (p.Leu898=)
|
rs1060503923
|
|
NM_001042492.3(NF1):c.2851-6_2851-3del
|
rs1597716256
|
|
NM_001042492.3(NF1):c.289-6T>C
|
rs757074803
|
|
NM_001042492.3(NF1):c.2899A>G (p.Ile967Val)
|
rs876660279
|
|
NM_001042492.3(NF1):c.2970_2972del (p.Met992del)
|
rs267606606
|
|
NM_001042492.3(NF1):c.2991-1G>C
|
rs1060500273
|
|
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.3198-2A>G
|
rs1131691089
|
|
NM_001042492.3(NF1):c.3375G>A (p.Ala1125=)
|
rs112589561
|
|
NM_001042492.3(NF1):c.3447G>T (p.Met1149Ile)
|
rs1064794277
|
|
NM_001042492.3(NF1):c.3496+14A>G
|
rs2151434934
|
|
NM_001042492.3(NF1):c.3628G>T (p.Glu1210Ter)
|
rs2151435633
|
|
NM_001042492.3(NF1):c.3779T>C (p.Met1260Thr)
|
rs1555615463
|
|
NM_001042492.3(NF1):c.3863G>A (p.Cys1288Tyr)
|
rs1597722661
|
|
NM_001042492.3(NF1):c.3870+1G>T
|
rs1131691075
|
|
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.4010G>A (p.Arg1337Gln)
|
rs1060500379
|
|
NM_001042492.3(NF1):c.4070del (p.Phe1357fs)
|
rs1555617354
|
|
NM_001042492.3(NF1):c.4074C>A (p.Pro1358=)
|
rs757398594
|
|
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.4186C>T (p.Arg1396Cys)
|
rs1555618495
|
|
NM_001042492.3(NF1):c.4195C>T (p.Gln1399Ter)
|
rs1131691072
|
|
NM_001042492.3(NF1):c.4219A>G (p.Ser1407Gly)
|
rs587781755
|
|
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.4394A>G (p.Asn1465Ser)
|
rs786202492
|
|
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.4500T>C (p.Ser1500=)
|
rs775018971
|
|
NM_001042492.3(NF1):c.4543C>T (p.Gln1515Ter)
|
rs1567862991
|
|
NM_001042492.3(NF1):c.4640G>A (p.Gly1547Asp)
|
rs2151466343
|
|
NM_001042492.3(NF1):c.4725-1G>A
|
rs1555619391
|
|
NM_001042492.3(NF1):c.4760del (p.Ala1586_Leu1587insTer)
|
rs2151470108
|
|
NM_001042492.3(NF1):c.4872A>T (p.Ile1624=)
|
rs2151537601
|
|
NM_001042492.3(NF1):c.4980dup (p.Lys1661Ter)
|
rs2069329774
|
|
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.520G>T (p.Val174Phe)
|
rs1555607084
|
|
NM_001042492.3(NF1):c.5489G>T (p.Arg1830Leu)
|
rs771529172
|
|
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.5609G>A (p.Arg1870Gln)
|
rs786202112
|
|
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.5782G>T (p.Glu1928Ter)
|
rs786203896
|
|
NM_001042492.3(NF1):c.5813-12A>G
|
rs768741646
|
|
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter)
|
rs137854552
|
|
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.6175G>A (p.Asp2059Asn)
|
rs761029453
|
|
NM_001042492.3(NF1):c.624G>A (p.Ala208=)
|
rs370184932
|
|
NM_001042492.3(NF1):c.6428-7C>G
|
rs1597843613
|
|
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.6819+3del
|
rs2069728377
|
|
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter)
|
rs772295894
|
|
NM_001042492.3(NF1):c.6887T>C (p.Ile2296Thr)
|
rs1212022548
|
|
NM_001042492.3(NF1):c.6897del (p.Lys2300fs)
|
|
|
NM_001042492.3(NF1):c.6920A>G (p.Lys2307Arg)
|
rs765418194
|
|
NM_001042492.3(NF1):c.6970C>T (p.Gln2324Ter)
|
rs1131691073
|
|
NM_001042492.3(NF1):c.7062+12_7062+13del
|
rs753202735
|
|
NM_001042492.3(NF1):c.7078T>C (p.Phe2360Leu)
|
rs2069866148
|
|
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.7162T>A (p.Phe2388Ile)
|
rs1425642121
|
|
NM_001042492.3(NF1):c.731-16T>C
|
rs1227193781
|
|
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.7446C>A (p.Asp2482Glu)
|
rs876660614
|
|
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter)
|
rs866445127
|
|
NM_001042492.3(NF1):c.7693A>G (p.Thr2565Ala)
|
rs786202548
|
|
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.7781G>T (p.Arg2594Leu)
|
rs774781617
|
|
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.7971-321C>G
|
rs2070316606
|
|
NM_001042492.3(NF1):c.7971-8dup
|
rs564545012
|
|
NM_001042492.3(NF1):c.8357C>T (p.Ala2786Val)
|
rs2070377037
|
|
NM_001042492.3(NF1):c.8406C>T (p.Ser2802=)
|
rs1597883029
|
|
NM_001042492.3(NF1):c.8503A>G (p.Ile2835Val)
|
rs2151601629
|
|
NM_001042492.3(NF1):c.885T>A (p.Asn295Lys)
|
rs864622300
|
|
NM_001042492.3(NF1):c.889-11_889-6delinsAAATT
|
rs2143871690
|
|
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter)
|
rs786203950
|
|
NM_001081.4(CUBN):c.10077G>C (p.Ser3359=)
|
rs147563157
|
|
NM_001081.4(CUBN):c.1036G>C (p.Val346Leu)
|
rs886046879
|
|
NM_001081.4(CUBN):c.10462C>T (p.Arg3488Ter)
|
rs201426128
|
|
NM_001081.4(CUBN):c.10729G>T (p.Ala3577Ser)
|
rs139051724
|
|
NM_001081.4(CUBN):c.1837G>C (p.Gly613Arg)
|
rs2131869531
|
|
NM_001081.4(CUBN):c.2673C>A (p.Cys891Ter)
|
rs386833778
|
|
NM_001081.4(CUBN):c.2791G>A (p.Ala931Thr)
|
rs1042319182
|
|
NM_001081.4(CUBN):c.3823C>T (p.Arg1275Trp)
|
rs189294363
|
|
NM_001081.4(CUBN):c.3928A>G (p.Ile1310Val)
|
rs1325181765
|
|
NM_001081.4(CUBN):c.4069C>G (p.Pro1357Ala)
|
rs780012075
|
|
NM_001081.4(CUBN):c.4165del (p.Tyr1389fs)
|
rs774493547
|
|
NM_001081.4(CUBN):c.4212C>T (p.Ser1404=)
|
rs544694254
|
|
NM_001081.4(CUBN):c.4460_4464del (p.Arg1487fs)
|
rs770921101
|
|
NM_001081.4(CUBN):c.4689_4690delinsAT (p.Cys1563_Ile1564delinsTer)
|
rs2131697094
|
|
NM_001081.4(CUBN):c.4720A>G (p.Met1574Val)
|
rs1482983523
|
|
NM_001081.4(CUBN):c.4934A>G (p.Gln1645Arg)
|
rs1243565121
|
|
NM_001081.4(CUBN):c.4973del (p.Asn1658fs)
|
rs1588511533
|
|
NM_001081.4(CUBN):c.5305G>A (p.Val1769Ile)
|
rs74116778
|
|
NM_001081.4(CUBN):c.5580T>A (p.His1860Gln)
|
rs980358703
|
|
NM_001081.4(CUBN):c.5597C>T (p.Pro1866Leu)
|
rs376970710
|
|
NM_001081.4(CUBN):c.5911C>A (p.Pro1971Thr)
|
rs2356590
|
|
NM_001081.4(CUBN):c.5965G>A (p.Val1989Met)
|
rs368951850
|
|
NM_001081.4(CUBN):c.6254A>G (p.Asn2085Ser)
|
rs569527072
|
|
NM_001081.4(CUBN):c.6833A>G (p.Asn2278Ser)
|
rs942411004
|
|
NM_001081.4(CUBN):c.6928_6934del (p.Glu2310fs)
|
rs757649673
|
|
NM_001081.4(CUBN):c.7397C>G (p.Pro2466Arg)
|
rs1184270888
|
|
NM_001081.4(CUBN):c.7406C>T (p.Pro2469Leu)
|
rs202229367
|
|
NM_001081.4(CUBN):c.7916A>T (p.Asp2639Val)
|
rs2131430542
|
|
NM_001081.4(CUBN):c.796G>T (p.Glu266Ter)
|
rs1161400848
|
|
NM_001081.4(CUBN):c.8273C>T (p.Pro2758Leu)
|
rs2131420669
|
|
NM_001081.4(CUBN):c.8578T>G (p.Cys2860Gly)
|
rs138719573
|
|
NM_001082486.2(ACD):c.817_828del (p.Pro273_Ser276del)
|
rs777131279
|
|
NM_001083116.3(PRF1):c.1334G>A (p.Gly445Asp)
|
rs754711256
|
|
NM_001113378.2(FANCI):c.1028TCC[1] (p.Leu344del)
|
rs770583031
|
|
NM_001113378.2(FANCI):c.1075T>A (p.Tyr359Asn)
|
rs1429851841
|
|
NM_001113378.2(FANCI):c.1084A>G (p.Thr362Ala)
|
rs2053319905
|
|
NM_001113378.2(FANCI):c.1263C>A (p.Leu421=)
|
rs376956791
|
|
NM_001113378.2(FANCI):c.1273A>G (p.Ile425Val)
|
rs775228768
|
|
NM_001113378.2(FANCI):c.1699-17del
|
rs746745862
|
|
NM_001113378.2(FANCI):c.1951A>G (p.Ile651Val)
|
rs746651145
|
|
NM_001113378.2(FANCI):c.2021G>T (p.Cys674Phe)
|
rs886051511
|
|
NM_001113378.2(FANCI):c.2066AGGAGGAAGAGG[1] (p.Glu693_Glu696del)
|
rs878854176
|
|
NM_001113378.2(FANCI):c.2133T>C (p.Asn711=)
|
rs2054118261
|
|
NM_001113378.2(FANCI):c.2278A>G (p.Ile760Val)
|
rs780410177
|
|
NM_001113378.2(FANCI):c.2345_2346del (p.Leu781_Ser782insTer)
|
rs758062617
|
|
NM_001113378.2(FANCI):c.236G>A (p.Gly79Glu)
|
rs1415605220
|
|
NM_001113378.2(FANCI):c.2849G>T (p.Ser950Ile)
|
rs760327010
|
|
NM_001113378.2(FANCI):c.2858dup (p.Arg954fs)
|
rs2054482551
|
|
NM_001113378.2(FANCI):c.2936G>C (p.Ser979Thr)
|
rs769453869
|
|
NM_001113378.2(FANCI):c.3118_3119del (p.Lys1040fs)
|
rs907106559
|
|
NM_001113378.2(FANCI):c.3119del (p.Lys1040fs)
|
rs1596324325
|
|
NM_001113378.2(FANCI):c.3272A>G (p.Gln1091Arg)
|
rs2054689057
|
|
NM_001113378.2(FANCI):c.328A>G (p.Asn110Asp)
|
rs1555442689
|
|
NM_001113378.2(FANCI):c.3493del (p.Asp1165fs)
|
rs758597713
|
|
NM_001113378.2(FANCI):c.3537+19C>G
|
rs2054711237
|
|
NM_001113378.2(FANCI):c.3626_3627del (p.Cys1209fs)
|
rs770318990
|
|
NM_001113378.2(FANCI):c.3637A>G (p.Ile1213Val)
|
rs767466504
|
|
NM_001113378.2(FANCI):c.3645C>T (p.Tyr1215=)
|
rs760364969
|
|
NM_001113378.2(FANCI):c.3646G>A (p.Val1216Ile)
|
rs978000003
|
|
NM_001113378.2(FANCI):c.3652-10A>T
|
rs202231175
|
|
NM_001113378.2(FANCI):c.3694A>G (p.Lys1232Glu)
|
rs1252915442
|
|
NM_001113378.2(FANCI):c.3720+14A>G
|
rs200012909
|
|
NM_001113378.2(FANCI):c.3748A>G (p.Ile1250Val)
|
rs2055130868
|
|
NM_001113378.2(FANCI):c.3796C>T (p.His1266Tyr)
|
rs2152017364
|
|
NM_001113378.2(FANCI):c.3892C>A (p.Leu1298Ile)
|
rs150076848
|
|
NM_001113378.2(FANCI):c.3895C>G (p.Arg1299Gly)
|
rs551305056
|
|
NM_001113378.2(FANCI):c.3895C>T (p.Arg1299Ter)
|
rs551305056
|
|
NM_001113378.2(FANCI):c.3896G>A (p.Arg1299Gln)
|
rs138663330
|
|
NM_001113378.2(FANCI):c.517T>C (p.Tyr173His)
|
rs2151291390
|
|
NM_001113378.2(FANCI):c.697A>G (p.Ile233Val)
|
rs757102747
|
|
NM_001113378.2(FANCI):c.800T>C (p.Val267Ala)
|
rs1005232714
|
|
NM_001113378.2(FANCI):c.822C>T (p.His274=)
|
rs2053064054
|
|
NM_001113378.2(FANCI):c.96_98del (p.Leu33del)
|
rs747603151
|
|
NM_001113378.2(FANCI):c.998C>A (p.Ser333Ter)
|
rs761982725
|
|
NM_001130004.2(ACTN1):c.1018A>G (p.Thr340Ala)
|
rs2140158660
|
|
NM_001142864.4(PIEZO1):c.1179C>G (p.Ser393=)
|
rs780119372
|
|
NM_001142864.4(PIEZO1):c.2664+7del
|
rs556884023
|
|
NM_001142864.4(PIEZO1):c.4388AGCAGG[2] (p.1465EQ[1])
|
rs11281795
|
|
NM_001142864.4(PIEZO1):c.7472_7477dup (p.Arg2491_Glu2492dup)
|
rs755226463
|
|
NM_001164277.2(SLC37A4):c.1016G>A (p.Gly339Asp)
|
rs121908980
|
|
NM_001164277.2(SLC37A4):c.1117G>A (p.Ala373Thr)
|
rs1565686175
|
|
NM_001164277.2(SLC37A4):c.1176T>G (p.Ser392Arg)
|
rs782552989
|
|
NM_001164277.2(SLC37A4):c.1267C>T (p.Arg423Ter)
|
rs2134626266
|
|
NM_001164277.2(SLC37A4):c.127C>T (p.Pro43Ser)
|
rs781846380
|
|
NM_001164277.2(SLC37A4):c.1287G>C (p.Glu429Asp)
|
rs1483724786
|
|
NM_001164277.2(SLC37A4):c.13G>A (p.Gly5Ser)
|
rs571267951
|
|
NM_001164277.2(SLC37A4):c.13G>C (p.Gly5Arg)
|
rs571267951
|
|
NM_001164277.2(SLC37A4):c.148+1G>A
|
rs1943672400
|
|
NM_001164277.2(SLC37A4):c.149G>A (p.Gly50Glu)
|
rs193302877
|
|
NM_001164277.2(SLC37A4):c.173C>T (p.Ala58Val)
|
rs782083266
|
|
NM_001164277.2(SLC37A4):c.230G>A (p.Arg77His)
|
rs370839177
|
|
NM_001164277.2(SLC37A4):c.359dup (p.Cys121fs)
|
rs1182102272
|
|
NM_001164277.2(SLC37A4):c.556C>T (p.Leu186Phe)
|
rs538938823
|
|
NM_001164277.2(SLC37A4):c.679T>C (p.Trp227Arg)
|
rs1176277831
|
|
NM_001164277.2(SLC37A4):c.723C>T (p.Thr241=)
|
rs782547500
|
|
NM_001164277.2(SLC37A4):c.74_77del (p.Tyr25fs)
|
rs1447366650
|
|
NM_001164277.2(SLC37A4):c.899G>A (p.Arg300His)
|
rs193302903
|
|
NM_001164277.2(SLC37A4):c.901C>G (p.His301Asp)
|
rs539911116
|
|
NM_001164277.2(SLC37A4):c.977C>A (p.Ser326Tyr)
|
rs1943553852
|
|
NM_001322934.2(NFKB2):c.*76C>T
|
|
|
NM_001355436.2(SPTB):c.6351AGA[1] (p.Glu2119del)
|
rs750154106
|
|
NM_001364905.1(LRBA):c.1923_1924+11del
|
rs755373718
|
|
NM_001367721.1(CASK):c.846C>G (p.Tyr282Ter)
|
rs886128077
|
|
NM_001375808.2(LPIN2):c.2621G>T (p.Cys874Phe)
|
rs201160155
|
|
NM_001382567.1(STIM1):c.1594C>A (p.Gln532Lys)
|
rs753214223
|
|
NM_001382567.1(STIM1):c.464G>A (p.Arg155Gln)
|
rs771484089
|
|
NM_001386140.1(MTTP):c.1385A>T (p.Glu462Val)
|
rs757598679
|
|
NM_001386140.1(MTTP):c.141del (p.Gly49fs)
|
rs1228389182
|
|
NM_001386140.1(MTTP):c.1636_1637dup (p.Ile547fs)
|
rs2110230146
|
|
NM_001754.5(RUNX1):c.1272G>C (p.Ser424=)
|
rs1459260782
|
|
NM_001754.5(RUNX1):c.292del (p.Leu98fs)
|
rs1569084170
|
|
NM_001754.5(RUNX1):c.508+2T>C
|
rs1601515707
|
|
NM_001754.5(RUNX1):c.739C>T (p.Pro247Ser)
|
rs2057112093
|
|
NM_001791.4(CDC42):c.191A>G (p.Tyr64Cys)
|
rs864309721
|
|
NM_001814.6(CTSC):c.1141del (p.Leu381fs)
|
rs772132996
|
|
NM_001814.6(CTSC):c.1289G>A (p.Gly430Asp)
|
|
|
NM_001814.6(CTSC):c.1344_1345del (p.Ala449fs)
|
rs771873680
|
|
NM_001814.6(CTSC):c.203T>G (p.Leu68Arg)
|
rs199474831
|
|
NM_001972.4(ELANE):c.416C>T (p.Pro139Leu)
|
rs137854448
|
|
NM_001972.4(ELANE):c.619G>C (p.Val207Leu)
|
rs2035674003
|
|
NM_002049.4(GATA1):c.35C>G (p.Ser12Ter)
|
rs2062673416
|
|
NM_002049.4(GATA1):c.893G>A (p.Arg298Gln)
|
rs2147307511
|
|
NM_002049.4(GATA1):c.944A>G (p.Lys315Arg)
|
rs782326935
|
|
NM_002473.6(MYH9):c.1056C>T (p.Ile352=)
|
rs727504861
|
|
NM_002473.6(MYH9):c.1843+12G>C
|
rs150539764
|
|
NM_002473.6(MYH9):c.19G>T (p.Asp7Tyr)
|
rs762745890
|
|
NM_002473.6(MYH9):c.2037+14G>T
|
rs727504713
|
|
NM_002473.6(MYH9):c.2104C>T (p.Arg702Cys)
|
rs80338826
|
|
NM_002473.6(MYH9):c.2152C>T (p.Arg718Trp)
|
rs1184544985
|
|
NM_002473.6(MYH9):c.2296G>A (p.Gly766Ser)
|
rs757850500
|
|
NM_002473.6(MYH9):c.255C>T (p.Asp85=)
|
rs569718443
|
|
NM_002473.6(MYH9):c.3272+3G>T
|
rs1238385506
|
|
NM_002473.6(MYH9):c.3673G>A (p.Glu1225Lys)
|
rs770864107
|
|
NM_002473.6(MYH9):c.3677G>A (p.Arg1226Gln)
|
rs200697030
|
|
NM_002473.6(MYH9):c.3677G>T (p.Arg1226Leu)
|
rs200697030
|
|
NM_002473.6(MYH9):c.3728C>T (p.Ser1243Leu)
|
rs959272684
|
|
NM_002473.6(MYH9):c.3817G>A (p.Asp1273Asn)
|
rs147031322
|
|
NM_002473.6(MYH9):c.3877G>A (p.Asp1293Asn)
|
rs778278736
|
|
NM_002473.6(MYH9):c.4179C>G (p.Asp1393Glu)
|
rs727504829
|
|
NM_002473.6(MYH9):c.4270G>A (p.Asp1424Asn)
|
rs80338831
|
|
NM_002473.6(MYH9):c.4546G>T (p.Val1516Leu)
|
rs727503284
|
|
NM_002473.6(MYH9):c.5251C>T (p.Arg1751Trp)
|
rs770433607
|
|
NM_002473.6(MYH9):c.5275-10del
|
rs552643559
|
|
NM_002473.6(MYH9):c.5314C>T (p.His1772Tyr)
|
rs1455355336
|
|
NM_002473.6(MYH9):c.5593-14G>T
|
rs201676960
|
|
NM_002473.6(MYH9):c.5764A>C (p.Arg1922=)
|
rs1603482692
|
|
NM_002473.6(MYH9):c.659C>T (p.Ala220Val)
|
rs1190062913
|
|
NM_002485.5(NBN):c.1060C>T (p.Pro354Ser)
|
rs1064794336
|
|
NM_002485.5(NBN):c.1106C>G (p.Ser369Ter)
|
rs2129744741
|
|
NM_002485.5(NBN):c.11T>G (p.Leu4Arg)
|
rs748090667
|
|
NM_002485.5(NBN):c.1279C>A (p.Pro427Thr)
|
rs1554559171
|
|
NM_002485.5(NBN):c.1397+1del
|
rs1060503467
|
|
NM_002485.5(NBN):c.1483_1484delinsA (p.Pro495fs)
|
rs764884516
|
|
NM_002485.5(NBN):c.156_157del (p.Ser53fs)
|
rs767454740
|
|
NM_002485.5(NBN):c.1648_1651del (p.Lys550fs)
|
rs766044684
|
|
NM_002485.5(NBN):c.1747C>T (p.Gln583Ter)
|
rs864622143
|
|
NM_002485.5(NBN):c.1783A>G (p.Met595Val)
|
rs2129696684
|
|
NM_002485.5(NBN):c.211_212insGA (p.Asn71fs)
|
rs762664474
|
|
NM_002485.5(NBN):c.220T>C (p.Tyr74His)
|
rs587780094
|
|
NM_002485.5(NBN):c.317dup (p.Arg107fs)
|
rs745355767
|
|
NM_002485.5(NBN):c.340G>T (p.Val114Phe)
|
rs771034958
|
|
NM_002485.5(NBN):c.350CTT[1] (p.Ser118del)
|
rs730881841
|
|
NM_002485.5(NBN):c.431C>T (p.Thr144Ile)
|
rs1554567906
|
|
NM_002485.5(NBN):c.503G>A (p.Gly168Glu)
|
rs1554566728
|
|
NM_002485.5(NBN):c.515T>C (p.Val172Ala)
|
rs1554566701
|
|
NM_002485.5(NBN):c.540C>T (p.Phe180=)
|
rs1060504928
|
|
NM_002485.5(NBN):c.697A>C (p.Lys233Gln)
|
rs1554564205
|
|
NM_002485.5(NBN):c.698_701del (p.Lys233fs)
|
rs587780100
|
|
NM_002485.5(NBN):c.727G>C (p.Val243Leu)
|
rs786203253
|
|
NM_002485.5(NBN):c.76G>T (p.Val26Phe)
|
rs752964949
|
|
NM_002485.5(NBN):c.857A>G (p.Gln286Arg)
|
rs1586086458
|
|
NM_002485.5(NBN):c.976C>G (p.Gln326Glu)
|
rs121908973
|
|
NM_002641.4(PIGA):c.1048C>T (p.Pro350Ser)
|
rs372966902
|
|
NM_002834.5(PTPN11):c.1144G>A (p.Val382Ile)
|
rs1214510641
|
|
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.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.174C>G (p.Asn58Lys)
|
rs397507506
|
|
NM_002834.5(PTPN11):c.178G>A (p.Gly60Ser)
|
rs397507507
|
|
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>T (p.Ala72Ser)
|
rs121918453
|
|
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly)
|
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.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.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.788A>G (p.Tyr263Cys)
|
rs763617831
|
|
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser)
|
rs397507527
|
|
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu)
|
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_003126.4(SPTA1):c.4339-99C>T
|
rs200830867
|
|
NM_003126.4(SPTA1):c.6789-8del
|
rs5778083
|
|
NM_003467.3(CXCR4):c.1000C>T (p.Arg334Ter)
|
rs104893624
|
|
NM_003467.3(CXCR4):c.1013C>G (p.Ser338Ter)
|
rs104893626
|
|
NM_003467.3(CXCR4):c.950_953del (p.Leu317fs)
|
rs1573613529
|
|
NM_003664.5(AP3B1):c.310C>T (p.Arg104Ter)
|
rs1746480237
|
|
NM_003664.5(AP3B1):c.705T>C (p.Asp235=)
|
rs779084730
|
|
NM_003664.5(AP3B1):c.830A>G (p.Asp277Gly)
|
rs147761913
|
|
NM_004343.3(CALR):c.1092_1143del52 (p.Leu367Thrfs)
|
rs1555760738
|
|
NM_004356.4(CD81):c.459+4C>T
|
rs116421908
|
|
NM_004364.5(CEBPA):c.458C>G (p.Pro153Arg)
|
rs1967183728
|
|
NM_004364.5(CEBPA):c.63C>A (p.Ser21Arg)
|
rs867113214
|
|
NM_004629.1(FANCG):c.1795_1804del (p.Trp599Profs)
|
rs397507560
|
|
NM_004629.2(FANCG):c.1008dup (p.Pro337fs)
|
rs1829086026
|
|
NM_004629.2(FANCG):c.1085A>G (p.Asp362Gly)
|
rs1829076408
|
|
NM_004629.2(FANCG):c.1153C>G (p.Pro385Ala)
|
rs1288516919
|
|
NM_004629.2(FANCG):c.1157C>A (p.Pro386His)
|
rs141147618
|
|
NM_004629.2(FANCG):c.1157C>G (p.Pro386Arg)
|
rs141147618
|
|
NM_004629.2(FANCG):c.1158dup (p.Ser387fs)
|
rs757418016
|
|
NM_004629.2(FANCG):c.115C>T (p.Arg39Ter)
|
rs1384748892
|
|
NM_004629.2(FANCG):c.1182_1192delinsC (p.Glu395fs)
|
rs397507559
|
|
NM_004629.2(FANCG):c.1474G>C (p.Glu492Gln)
|
rs1018027137
|
|
NM_004629.2(FANCG):c.1657C>T (p.His553Tyr)
|
rs1251259584
|
|
NM_004629.2(FANCG):c.178C>T (p.Leu60Phe)
|
rs1026058105
|
|
NM_004629.2(FANCG):c.1852_1853del (p.Lys618fs)
|
rs532302967
|
|
NM_004629.2(FANCG):c.511-10_511-8del
|
rs1384885358
|
|
NM_004629.2(FANCG):c.511-6dup
|
rs376732298
|
|
NM_004629.2(FANCG):c.620del (p.Leu207fs)
|
rs753727461
|
|
NM_004629.2(FANCG):c.770G>A (p.Arg257His)
|
rs372234656
|
|
NM_004629.2(FANCG):c.787C>G (p.Gln263Glu)
|
rs149721361
|
|
NM_004629.2(FANCG):c.81C>T (p.Ala27=)
|
rs1060504372
|
|
NM_004629.2(FANCG):c.833C>T (p.Ala278Val)
|
rs771395169
|
|
NM_004629.2(FANCG):c.85-1G>A
|
rs1052044702
|
|
NM_004629.2(FANCG):c.957G>C (p.Pro319=)
|
rs145092954
|
|
NM_004985.5(KRAS):c.112-9C>T
|
rs727504298
|
|
NM_004985.5(KRAS):c.388_389delinsAT (p.Ala130Ile)
|
rs1951383854
|
|
NM_004985.5(KRAS):c.458A>T (p.Asp153Val)
|
rs104894360
|
|
NM_005026.5(PIK3CD):c.1339+4G>A
|
rs751591906
|
|
NM_005026.5(PIK3CD):c.1394C>T (p.Thr465Met)
|
rs368722127
|
|
NM_005157.6(ABL1):c.2035T>G (p.Ser679Ala)
|
rs201278085
|
|
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.1163A>G (p.Asp388Gly)
|
rs2135303762
|
|
NM_005188.4(CBL):c.1243G>A (p.Gly415Ser)
|
rs756530482
|
|
NM_005188.4(CBL):c.1298C>A (p.Pro433Gln)
|
rs140627020
|
|
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.1676G>A (p.Arg559Gln)
|
rs143034856
|
|
NM_005188.4(CBL):c.1850G>T (p.Arg617Leu)
|
rs780457588
|
|
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_005236.3(ERCC4):c.1342G>C (p.Glu448Gln)
|
rs547209644
|
|
NM_005236.3(ERCC4):c.1488A>C (p.Gln496His)
|
rs146601373
|
|
NM_005236.3(ERCC4):c.1765C>T (p.Arg589Trp)
|
rs147105770
|
|
NM_005236.3(ERCC4):c.2124C>T (p.Pro708=)
|
rs376391395
|
|
NM_005236.3(ERCC4):c.241G>A (p.Val81Ile)
|
rs55761944
|
|
NM_005263.5(GFI1):c.925-40CT[15]
|
rs35896485
|
|
NM_005263.5(GFI1):c.925-40CT[19]
|
rs35896485
|
|
NM_005263.5(GFI1):c.925-40CT[21]
|
rs35896485
|
|
NM_005334.3(HCFC1):c.2231C>T (p.Ala744Val)
|
rs2065388763
|
|
NM_005334.3(HCFC1):c.4576G>A (p.Ala1526Thr)
|
rs782652831
|
|
NM_005373.3(MPL):c.1653+1del
|
rs755257605
|
|
NM_005373.3(MPL):c.317C>T (p.Pro106Leu)
|
rs750046020
|
|
NM_005373.3(MPL):c.367C>T (p.Arg123Ter)
|
rs1443655691
|
|
NM_005476.7(GNE):c.1306C>T (p.Gln436Ter)
|
rs786204558
|
|
NM_005476.7(GNE):c.1571C>T (p.Ala524Val)
|
rs764698870
|
|
NM_005476.7(GNE):c.2086G>A (p.Val696Met)
|
rs121908627
|
|
NM_005689.4(ABCB6):c.1123C>T (p.Arg375Trp)
|
rs764893806
|
|
NM_005957.5(MTHFR):c.1064C>T (p.Pro355Leu)
|
rs794727869
|
|
NM_005957.5(MTHFR):c.1541_1542del (p.Glu514fs)
|
rs764338697
|
|
NM_006118.4(HAX1):c.125dup (p.Ser43fs)
|
rs745666437
|
|
NM_006206.6(PDGFRA):c.1651C>A (p.Gln551Lys)
|
rs770950644
|
|
NM_006206.6(PDGFRA):c.878G>A (p.Arg293His)
|
rs373948582
|
|
NM_006516.4(SLC2A1):c.101A>G (p.Asn34Ser)
|
rs80359812
|
|
NM_006516.4(SLC2A1):c.1372C>T (p.Arg458Trp)
|
rs13306758
|
|
NM_006516.4(SLC2A1):c.667C>T (p.Arg223Trp)
|
rs796053248
|
|
NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp)
|
rs80359825
|
|
NM_006846.4(SPINK5):c.1431-12G>A
|
rs368134354
|
|
NM_006996.3(SLC19A2):c.807+2T>G
|
rs1234256852
|
|
NM_007259.5(VPS45):c.739A>G (p.Ile247Val)
|
rs1553799320
|
|
NM_007294.4(BRCA1):c.110C>A (p.Thr37Lys)
|
rs80356880
|
|
NM_007294.4(BRCA1):c.117T>A (p.Cys39Ter)
|
rs886040898
|
|
NM_007294.4(BRCA1):c.1204del (p.Glu402fs)
|
rs80357859
|
|
NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe)
|
rs80357446
|
|
NM_007294.4(BRCA1):c.1407_1408del (p.Ser470fs)
|
rs879255476
|
|
NM_007294.4(BRCA1):c.1662G>C (p.Glu554Asp)
|
rs876659028
|
|
NM_007294.4(BRCA1):c.1843TCT[1] (p.Ser616del)
|
rs80358329
|
|
NM_007294.4(BRCA1):c.1886G>T (p.Arg629Ile)
|
rs876660144
|
|
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly)
|
rs80357382
|
|
NM_007294.4(BRCA1):c.213-12A>G
|
rs80358163
|
|
NM_007294.4(BRCA1):c.2309C>A (p.Ser770Ter)
|
rs80357063
|
|
NM_007294.4(BRCA1):c.241C>T (p.Gln81Ter)
|
rs80357350
|
|
NM_007294.4(BRCA1):c.2433del (p.Lys812fs)
|
rs80357524
|
|
NM_007294.4(BRCA1):c.2457del (p.Asp821fs)
|
rs80357669
|
|
NM_007294.4(BRCA1):c.2563C>T (p.Gln855Ter)
|
rs80357131
|
|
NM_007294.4(BRCA1):c.2594del (p.Lys865fs)
|
rs80357756
|
|
NM_007294.4(BRCA1):c.2612C>T (p.Pro871Leu)
|
rs799917
|
|
NM_007294.4(BRCA1):c.2663A>C (p.His888Pro)
|
rs876658843
|
|
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter)
|
rs80356978
|
|
NM_007294.4(BRCA1):c.2806_2809del (p.Asp936fs)
|
rs80357832
|
|
NM_007294.4(BRCA1):c.287A>G (p.Asp96Gly)
|
rs864622444
|
|
NM_007294.4(BRCA1):c.3075A>C (p.Thr1025=)
|
rs786201258
|
|
NM_007294.4(BRCA1):c.3080G>C (p.Ser1027Thr)
|
rs80357386
|
|
NM_007294.4(BRCA1):c.3097G>T (p.Glu1033Ter)
|
rs273899698
|
|
NM_007294.4(BRCA1):c.3104T>C (p.Val1035Ala)
|
rs1555588389
|
|
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs)
|
rs80357701
|
|
NM_007294.4(BRCA1):c.3403C>G (p.Gln1135Glu)
|
rs80357136
|
|
NM_007294.4(BRCA1):c.3424G>C (p.Ala1142Pro)
|
rs80357101
|
|
NM_007294.4(BRCA1):c.3555G>T (p.Glu1185Asp)
|
rs587779368
|
|
NM_007294.4(BRCA1):c.3598C>T (p.Gln1200Ter)
|
rs62625307
|
|
NM_007294.4(BRCA1):c.3648dup (p.Ser1217fs)
|
rs80357902
|
|
NM_007294.4(BRCA1):c.3759_3760del (p.Lys1254fs)
|
rs80357520
|
|
NM_007294.4(BRCA1):c.3893C>A (p.Ser1298Ter)
|
rs80357440
|
|
NM_007294.4(BRCA1):c.3G>T (p.Met1Ile)
|
rs80357475
|
|
NM_007294.4(BRCA1):c.4001G>A (p.Gly1334Asp)
|
rs2053486938
|
|
NM_007294.4(BRCA1):c.4041_4042del (p.Gly1348fs)
|
rs80357727
|
|
NM_007294.4(BRCA1):c.4054G>T (p.Glu1352Ter)
|
rs80357202
|
|
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs)
|
rs80357508
|
|
NM_007294.4(BRCA1):c.4096+3A>G
|
rs80358015
|
|
NM_007294.4(BRCA1):c.4185+11TG[5]
|
rs273900723
|
|
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter)
|
rs41293455
|
|
NM_007294.4(BRCA1):c.4333C>A (p.Pro1445Thr)
|
rs876660684
|
|
NM_007294.4(BRCA1):c.441+36_441+49del
|
rs373413425
|
|
NM_007294.4(BRCA1):c.442-2A>G
|
rs80358155
|
|
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter)
|
rs80356885
|
|
NM_007294.4(BRCA1):c.4625_4626del (p.Ser1542fs)
|
rs80357542
|
|
NM_007294.4(BRCA1):c.4654T>C (p.Tyr1552His)
|
rs1265352633
|
|
NM_007294.4(BRCA1):c.4664G>A (p.Arg1555Lys)
|
rs786202165
|
|
NM_007294.4(BRCA1):c.4675+1G>A
|
rs80358044
|
|
NM_007294.4(BRCA1):c.470_471del (p.Leu156_Ser157insTer)
|
rs80357887
|
|
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly)
|
rs1799966
|
|
NM_007294.4(BRCA1):c.4976del (p.Pro1659fs)
|
rs879255295
|
|
NM_007294.4(BRCA1):c.502A>G (p.Lys168Glu)
|
rs886040263
|
|
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs)
|
rs80357580
|
|
NM_007294.4(BRCA1):c.5056C>T (p.His1686Tyr)
|
rs1555579648
|
|
NM_007294.4(BRCA1):c.5153-2del
|
rs273901746
|
|
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe)
|
rs80357104
|
|
NM_007294.4(BRCA1):c.5194-12G>A
|
rs80358079
|
|
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)
|
rs80357906
|
|
NM_007294.4(BRCA1):c.5341G>A (p.Glu1781Lys)
|
rs397509268
|
|
NM_007294.4(BRCA1):c.5368del (p.Ser1790fs)
|
rs879254116
|
|
NM_007294.4(BRCA1):c.5406A>C (p.Thr1802=)
|
rs879255493
|
|
NM_007294.4(BRCA1):c.5470A>G (p.Ile1824Val)
|
rs587782026
|
|
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs)
|
rs80357914
|
|
NM_007294.4(BRCA1):c.744del (p.Thr249fs)
|
rs1060502360
|
|
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs)
|
rs80357724
|
|
NM_007294.4(BRCA1):c.815_824dup (p.Thr276fs)
|
rs387906563
|
|
NM_007294.4(BRCA1):c.843_846del (p.Ser282fs)
|
rs80357919
|
|
NM_007294.4(BRCA1):c.851A>G (p.Gln284Arg)
|
rs80357039
|
|
NM_007294.4(BRCA1):c.922A>G (p.Ser308Gly)
|
rs55767801
|
|
NM_007294.4(BRCA1):c.925A>T (p.Lys309Ter)
|
rs879255498
|
|
NM_012433.4(SF3B1):c.1998G>T (p.Lys666Asn)
|
rs377023736
|
|
NM_012452.3(TNFRSF13B):c.53A>G (p.Glu18Gly)
|
rs1597672265
|
|
NM_012452.3(TNFRSF13B):c.61+1G>A
|
rs1016142312
|
|
NM_014915.3(ANKRD26):c.-128G>A
|
rs1589393809
|
|
NM_014915.3(ANKRD26):c.937G>A (p.Asp313Asn)
|
rs61730102
|
|
NM_015338.6(ASXL1):c.4127dup (p.Pro1377fs)
|
rs1555912897
|
|
NM_015338.6(ASXL1):c.57+19G>A
|
rs200198574
|
|
NM_015506.3(MMACHC):c.182G>A (p.Arg61Gln)
|
rs201777449
|
|
NM_015506.3(MMACHC):c.182G>C (p.Arg61Pro)
|
rs201777449
|
|
NM_015506.3(MMACHC):c.259C>T (p.Leu87=)
|
rs776402014
|
|
NM_015506.3(MMACHC):c.277-4C>A
|
rs199889403
|
|
NM_015506.3(MMACHC):c.285dup (p.Glu96fs)
|
rs1553162821
|
|
NM_015506.3(MMACHC):c.310_313del (p.Asp104fs)
|
rs1311416761
|
|
NM_015506.3(MMACHC):c.327_329delinsATTGCTGACTAC (p.Asn110delinsLeuLeuThrThr)
|
rs2149323547
|
|
NM_015506.3(MMACHC):c.328_331del (p.Asn110fs)
|
rs796052000
|
|
NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro)
|
rs121918240
|
|
NM_015506.3(MMACHC):c.352del (p.Gln118fs)
|
rs749264632
|
|
NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del)
|
rs796051998
|
|
NM_015506.3(MMACHC):c.395G>A (p.Arg132Gln)
|
rs369335868
|
|
NM_015506.3(MMACHC):c.433A>G (p.Ile145Val)
|
rs74365027
|
|
NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp)
|
rs140522266
|
|
NM_015506.3(MMACHC):c.443_459delinsCTGGGGCTGG (p.Val148fs)
|
rs2149323805
|
|
NM_015506.3(MMACHC):c.481C>G (p.Arg161Gly)
|
rs370596113
|
|
NM_015506.3(MMACHC):c.544T>C (p.Cys182Arg)
|
rs955468279
|
|
NM_015506.3(MMACHC):c.545G>A (p.Cys182Tyr)
|
rs372010149
|
|
NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser)
|
rs200895671
|
|
NM_015506.3(MMACHC):c.572C>T (p.Ala191Val)
|
rs375442063
|
|
NM_015506.3(MMACHC):c.615C>T (p.Tyr205=)
|
rs747527726
|
|
NM_015506.3(MMACHC):c.619dup (p.Asp207fs)
|
rs765913293
|
|
NM_015506.3(MMACHC):c.651A>G (p.Glu217=)
|
rs948189041
|
|
NM_015506.3(MMACHC):c.658_660del (p.Lys220del)
|
rs398124296
|
|
NM_015506.3(MMACHC):c.701del (p.Leu234fs)
|
rs767339897
|
|
NM_015506.3(MMACHC):c.729T>C (p.Pro243=)
|
rs891106099
|
|
NM_015506.3(MMACHC):c.763C>T (p.Pro255Ser)
|
rs533256855
|
|
NM_015506.3(MMACHC):c.801G>A (p.Arg267=)
|
rs751017212
|
|
NM_015506.3(MMACHC):c.839del (p.Pro280fs)
|
rs1553163017
|
|
NM_015506.3(MMACHC):c.848G>C (p.Ter283Ser)
|
rs201025783
|
|
NM_015702.3(MMADHC):c.311C>T (p.Ala104Val)
|
rs533388008
|
|
NM_015702.3(MMADHC):c.609+6T>C
|
rs1682704400
|
|
NM_016038.4(SBDS):c.120del (p.Ser41fs)
|
rs113993990
|
|
NM_016038.4(SBDS):c.183_184delinsCT (p.Lys62Ter)
|
rs113993991
|
|
NM_016038.4(SBDS):c.297_300del (p.Glu99fs)
|
rs113993994
|
|
NM_017654.4(SAMD9):c.1812A>G (p.Gln604=)
|
rs181767582
|
|
NM_017654.4(SAMD9):c.29del (p.Asn10fs)
|
rs1356051307
|
|
NM_017654.4(SAMD9):c.3651dup (p.Asp1218Ter)
|
rs199887936
|
|
NM_018062.4(FANCL):c.147_148delinsTT (p.Lys49_Asn50delinsAsnTyr)
|
rs1558825558
|
|
NM_018062.4(FANCL):c.203G>A (p.Arg68Gln)
|
rs143819820
|
|
NM_018062.4(FANCL):c.20G>A (p.Ser7Asn)
|
rs376224867
|
|
NM_018062.4(FANCL):c.20G>T (p.Ser7Ile)
|
rs376224867
|
|
NM_018062.4(FANCL):c.22C>A (p.Leu8Met)
|
rs764378405
|
|
NM_018062.4(FANCL):c.241A>G (p.Met81Val)
|
rs1440897827
|
|
NM_018062.4(FANCL):c.273+19dup
|
rs372101290
|
|
NM_018062.4(FANCL):c.27G>C (p.Leu9Phe)
|
rs370409722
|
|
NM_018062.4(FANCL):c.40del (p.Leu14fs)
|
rs761039364
|
|
NM_018062.4(FANCL):c.472-15A>G
|
rs374750427
|
|
NM_018062.4(FANCL):c.524C>T (p.Ala175Val)
|
rs199966372
|
|
NM_018062.4(FANCL):c.76G>C (p.Glu26Gln)
|
rs1694515857
|
|
NM_018062.4(FANCL):c.842T>C (p.Leu281Ser)
|
rs935920468
|
|
NM_018062.4(FANCL):c.845A>G (p.Gln282Arg)
|
rs2104794990
|
|
NM_018062.4(FANCL):c.913A>T (p.Met305Leu)
|
rs553742734
|
|
NM_018062.4(FANCL):c.949G>A (p.Gly317Ser)
|
rs1060501896
|
|
NM_018368.4(LMBRD1):c.1331T>C (p.Leu444Ser)
|
rs2149843427
|
|
NM_019616.4(F7):c.1325del (p.Pro442fs)
|
rs750457207
|
|
NM_019616.4(F7):c.739+3_739+6del
|
rs754785708
|
|
NM_020070.4(IGLL1):c.421del (p.Tyr141fs)
|
rs765603007
|
|
NM_020070.4(IGLL1):c.520_521delinsAT (p.Ala174Met)
|
rs1555903974
|
|
NM_020937.4(FANCM):c.1223A>G (p.Asp408Gly)
|
rs1887060432
|
|
NM_020937.4(FANCM):c.1314TAAAAA[1] (p.Asn440_Lys441del)
|
rs771036341
|
|
NM_020937.4(FANCM):c.1397-14A>T
|
rs757351765
|
|
NM_020937.4(FANCM):c.1450T>G (p.Ser484Ala)
|
rs1887398867
|
|
NM_020937.4(FANCM):c.164A>T (p.Asp55Val)
|
rs1255434449
|
|
NM_020937.4(FANCM):c.1658_1660del (p.Gly553del)
|
rs866897480
|
|
NM_020937.4(FANCM):c.1705C>T (p.Arg569Cys)
|
rs1388696715
|
|
NM_020937.4(FANCM):c.1738A>C (p.Lys580Gln)
|
rs1887827994
|
|
NM_020937.4(FANCM):c.2267G>T (p.Arg756Leu)
|
rs142763060
|
|
NM_020937.4(FANCM):c.2328C>G (p.Ser776Arg)
|
rs1181869875
|
|
NM_020937.4(FANCM):c.2377A>T (p.Thr793Ser)
|
rs201232194
|
|
NM_020937.4(FANCM):c.2530C>T (p.His844Tyr)
|
rs2139242067
|
|
NM_020937.4(FANCM):c.307C>G (p.Leu103Val)
|
rs768136056
|
|
NM_020937.4(FANCM):c.3187A>G (p.Lys1063Glu)
|
rs1171533572
|
|
NM_020937.4(FANCM):c.3525G>C (p.Gln1175His)
|
rs761300333
|
|
NM_020937.4(FANCM):c.3525G>T (p.Gln1175His)
|
rs761300333
|
|
NM_020937.4(FANCM):c.3628C>G (p.Gln1210Glu)
|
rs372276411
|
|
NM_020937.4(FANCM):c.3683T>C (p.Phe1228Ser)
|
rs1566765698
|
|
NM_020937.4(FANCM):c.3882TAT[1] (p.Ile1296del)
|
rs1312125043
|
|
NM_020937.4(FANCM):c.388C>T (p.Arg130Cys)
|
rs758891745
|
|
NM_020937.4(FANCM):c.3968C>T (p.Pro1323Leu)
|
rs1369746830
|
|
NM_020937.4(FANCM):c.398C>T (p.Pro133Leu)
|
rs139382920
|
|
NM_020937.4(FANCM):c.4061G>A (p.Arg1354Lys)
|
rs1302733474
|
|
NM_020937.4(FANCM):c.4378A>C (p.Ile1460Leu)
|
rs78211950
|
|
NM_020937.4(FANCM):c.4454A>G (p.Lys1485Arg)
|
rs2139278064
|
|
NM_020937.4(FANCM):c.4501C>A (p.Gln1501Lys)
|
rs755947203
|
|
NM_020937.4(FANCM):c.4515+14del
|
rs747887646
|
|
NM_020937.4(FANCM):c.4641T>A (p.Asn1547Lys)
|
rs932577451
|
|
NM_020937.4(FANCM):c.4686A>G (p.Arg1562=)
|
rs1889498706
|
|
NM_020937.4(FANCM):c.4691T>C (p.Ile1564Thr)
|
rs1889499436
|
|
NM_020937.4(FANCM):c.4780-4G>C
|
rs1486453187
|
|
NM_020937.4(FANCM):c.480C>T (p.Ile160=)
|
rs753171718
|
|
NM_020937.4(FANCM):c.5045A>C (p.Asp1682Ala)
|
rs2139296568
|
|
NM_020937.4(FANCM):c.5068G>C (p.Val1690Leu)
|
rs752352756
|
|
NM_020937.4(FANCM):c.5107C>G (p.His1703Asp)
|
rs367653310
|
|
NM_020937.4(FANCM):c.5281C>G (p.Pro1761Ala)
|
rs540327722
|
|
NM_020937.4(FANCM):c.5285C>G (p.Pro1762Arg)
|
rs747356020
|
|
NM_020937.4(FANCM):c.5293A>G (p.Thr1765Ala)
|
rs1386457912
|
|
NM_020937.4(FANCM):c.5348G>A (p.Ser1783Asn)
|
rs997324391
|
|
NM_020937.4(FANCM):c.5387C>T (p.Ser1796Phe)
|
rs1275681669
|
|
NM_020937.4(FANCM):c.5890GTG[1] (p.Val1965del)
|
rs769106934
|
|
NM_020937.4(FANCM):c.6010T>A (p.Ser2004Thr)
|
rs760258217
|
|
NM_020937.4(FANCM):c.6058GAG[1] (p.Glu2021del)
|
rs770012987
|
|
NM_020937.4(FANCM):c.682-7del
|
rs759364320
|
|
NM_020937.4(FANCM):c.71G>T (p.Gly24Val)
|
rs1885468827
|
|
NM_020937.4(FANCM):c.81C>T (p.Ser27=)
|
rs1388168603
|
|
NM_020937.4(FANCM):c.83G>T (p.Gly28Val)
|
rs1885470299
|
|
NM_020937.4(FANCM):c.876G>A (p.Pro292=)
|
rs150757891
|
|
NM_020937.4(FANCM):c.937C>T (p.Arg313Cys)
|
rs372710600
|
|
NM_020937.4(FANCM):c.972G>C (p.Arg324Ser)
|
rs1886810472
|
|
NM_021023.6(CFHR3):c.839_840del (p.Ile280fs)
|
rs781400776
|
|
NM_021023.6(CFHR3):c.934A>T (p.Ile312Phe)
|
rs73073594
|
|
NM_021871.4(FGA):c.922C>T (p.Arg308Ter)
|
rs776817952
|
|
NM_021922.3(FANCE):c.1378C>T (p.Arg460Trp)
|
rs200535245
|
|
NM_021922.3(FANCE):c.145G>C (p.Ala49Pro)
|
rs1225225979
|
|
NM_021922.3(FANCE):c.175G>T (p.Asp59Tyr)
|
rs1581696567
|
|
NM_021922.3(FANCE):c.25C>A (p.Pro9Thr)
|
rs956659254
|
|
NM_021922.3(FANCE):c.313G>A (p.Val105Ile)
|
rs373159305
|
|
NM_021922.3(FANCE):c.421C>T (p.Arg141Ter)
|
rs121434506
|
|
NM_021922.3(FANCE):c.524dup (p.Arg176fs)
|
rs773363446
|
|
NM_021922.3(FANCE):c.733GGA[1] (p.Gly246del)
|
rs45451605
|
|
NM_021922.3(FANCE):c.929C>A (p.Pro310Gln)
|
rs139600847
|
|
NM_021922.3(FANCE):c.929C>G (p.Pro310Arg)
|
rs139600847
|
|
NM_021922.3(FANCE):c.929C>T (p.Pro310Leu)
|
rs139600847
|
|
NM_021922.3(FANCE):c.929dup (p.Val311fs)
|
rs587778337
|
|
NM_022455.5(NSD1):c.2008G>A (p.Asp670Asn)
|
rs1554189230
|
|
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.656A>G (p.Lys219Arg)
|
rs950156492
|
|
NM_022725.4(FANCF):c.104T>G (p.Leu35Trp)
|
rs2133798660
|
|
NM_022725.4(FANCF):c.1063C>T (p.Arg355Cys)
|
rs1858614312
|
|
NM_022725.4(FANCF):c.119A>G (p.Tyr40Cys)
|
rs1359473267
|
|
NM_022725.4(FANCF):c.211G>A (p.Gly71Ser)
|
rs1590542146
|
|
NM_022725.4(FANCF):c.230_252del (p.Val77fs)
|
rs730880277
|
|
NM_022725.4(FANCF):c.318_319delinsCC (p.Ala107Pro)
|
rs1565055434
|
|
NM_022725.4(FANCF):c.370G>T (p.Ala124Ser)
|
rs201357673
|
|
NM_022725.4(FANCF):c.419G>A (p.Arg140Gln)
|
rs868692458
|
|
NM_022725.4(FANCF):c.433A>G (p.Met145Val)
|
rs766160698
|
|
NM_022725.4(FANCF):c.489G>C (p.Met163Ile)
|
rs1590541541
|
|
NM_022725.4(FANCF):c.62C>G (p.Thr21Ser)
|
rs765672591
|
|
NM_022725.4(FANCF):c.688C>T (p.Pro230Ser)
|
rs773724648
|
|
NM_022725.4(FANCF):c.795C>A (p.Ser265Arg)
|
rs758796858
|
|
NM_022725.4(FANCF):c.821A>C (p.Tyr274Ser)
|
rs144524228
|
|
NM_022725.4(FANCF):c.84del (p.Ala29fs)
|
rs1275961745
|
|
NM_022725.4(FANCF):c.89C>G (p.Thr30Ser)
|
rs370347668
|
|
NM_022725.4(FANCF):c.952C>T (p.Pro318Ser)
|
rs746120363
|
|
NM_022725.4(FANCF):c.992C>T (p.Thr331Ile)
|
rs1250903119
|
|
NM_024598.4(USB1):c.63del (p.Met22fs)
|
rs747958554
|
|
NM_024675.4(PALB2):c.101G>A (p.Arg34His)
|
rs144944814
|
|
NM_024675.4(PALB2):c.101G>T (p.Arg34Leu)
|
rs144944814
|
|
NM_024675.4(PALB2):c.1050_1053del (p.Thr351fs)
|
rs515726060
|
|
NM_024675.4(PALB2):c.1059del (p.Lys353fs)
|
rs730881872
|
|
NM_024675.4(PALB2):c.106C>T (p.Gln36Ter)
|
rs757369748
|
|
NM_024675.4(PALB2):c.1072C>T (p.Pro358Ser)
|
rs876660876
|
|
NM_024675.4(PALB2):c.108+7_108+8delinsAT
|
rs2142459585
|
|
NM_024675.4(PALB2):c.1115G>C (p.Ser372Thr)
|
rs786204243
|
|
NM_024675.4(PALB2):c.1150G>A (p.Glu384Lys)
|
rs1567221497
|
|
NM_024675.4(PALB2):c.1189A>C (p.Thr397Pro)
|
rs367578415
|
|
NM_024675.4(PALB2):c.1217C>T (p.Ala406Val)
|
rs1060502757
|
|
NM_024675.4(PALB2):c.1318T>C (p.Phe440Leu)
|
rs776294034
|
|
NM_024675.4(PALB2):c.1340C>A (p.Ala447Glu)
|
rs1555461334
|
|
NM_024675.4(PALB2):c.1471G>C (p.Ala491Pro)
|
rs577969558
|
|
NM_024675.4(PALB2):c.1482T>C (p.Thr494=)
|
rs2142414557
|
|
NM_024675.4(PALB2):c.1492G>A (p.Asp498Asn)
|
rs75023630
|
|
NM_024675.4(PALB2):c.1498T>C (p.Ser500Pro)
|
rs869025294
|
|
NM_024675.4(PALB2):c.1530A>C (p.Arg510Ser)
|
rs1555461232
|
|
NM_024675.4(PALB2):c.1537A>G (p.Thr513Ala)
|
rs1060502741
|
|
NM_024675.4(PALB2):c.1675_1676delinsTG
|
|
|
NM_024675.4(PALB2):c.168T>C (p.Asp56=)
|
rs1203135643
|
|
NM_024675.4(PALB2):c.1702C>A (p.Gln568Lys)
|
rs876659354
|
|
NM_024675.4(PALB2):c.172_175del (p.Gln60fs)
|
rs180177143
|
|
NM_024675.4(PALB2):c.1748T>G (p.Leu583Trp)
|
rs587782151
|
|
NM_024675.4(PALB2):c.1802A>G (p.Lys601Arg)
|
rs1555460644
|
|
NM_024675.4(PALB2):c.1862C>T (p.Pro621Leu)
|
rs1567218668
|
|
NM_024675.4(PALB2):c.1881G>T (p.Val627=)
|
rs139362268
|
|
NM_024675.4(PALB2):c.18G>A (p.Gly6=)
|
rs587782462
|
|
NM_024675.4(PALB2):c.1918T>G (p.Ser640Ala)
|
rs876659058
|
|
NM_024675.4(PALB2):c.1982C>G (p.Pro661Arg)
|
rs71379822
|
|
NM_024675.4(PALB2):c.1997C>T (p.Thr666Ile)
|
rs1567218311
|
|
NM_024675.4(PALB2):c.2052del (p.Arg686fs)
|
rs587782680
|
|
NM_024675.4(PALB2):c.205C>T (p.His69Tyr)
|
rs879253891
|
|
NM_024675.4(PALB2):c.212-24TA[4]
|
rs751741705
|
|
NM_024675.4(PALB2):c.2148T>A (p.Asn716Lys)
|
rs770145849
|
|
NM_024675.4(PALB2):c.2216C>T (p.Pro739Leu)
|
rs1966858909
|
|
NM_024675.4(PALB2):c.2231A>G (p.Glu744Gly)
|
rs1060502779
|
|
NM_024675.4(PALB2):c.2263T>C (p.Cys755Arg)
|
rs1060502794
|
|
NM_024675.4(PALB2):c.226del (p.Ile76fs)
|
rs587782443
|
|
NM_024675.4(PALB2):c.2273C>G (p.Pro758Arg)
|
rs746117401
|
|
NM_024675.4(PALB2):c.2424A>C (p.Gly808=)
|
rs1060504714
|
|
NM_024675.4(PALB2):c.2430_2431del (p.Pro811fs)
|
rs1555460334
|
|
NM_024675.4(PALB2):c.2473A>G (p.Arg825Gly)
|
rs745747228
|
|
NM_024675.4(PALB2):c.2540C>G (p.Ser847Cys)
|
rs1567216902
|
|
NM_024675.4(PALB2):c.2699C>T (p.Ala900Val)
|
rs730881890
|
|
NM_024675.4(PALB2):c.2718G>A (p.Trp906Ter)
|
rs180177122
|
|
NM_024675.4(PALB2):c.2727_2728del (p.Thr911fs)
|
rs730881869
|
|
NM_024675.4(PALB2):c.2774T>C (p.Val925Ala)
|
rs1555459734
|
|
NM_024675.4(PALB2):c.2777C>T (p.Pro926Leu)
|
rs1555459732
|
|
NM_024675.4(PALB2):c.2785_2786delinsAT (p.Tyr929Ile)
|
rs1597082795
|
|
NM_024675.4(PALB2):c.2804C>G (p.Ala935Gly)
|
rs769009609
|
|
NM_024675.4(PALB2):c.2827G>A (p.Glu943Lys)
|
rs1567214295
|
|
NM_024675.4(PALB2):c.2834+13C>G
|
rs551516577
|
|
NM_024675.4(PALB2):c.2834+1G>A
|
rs587776419
|
|
NM_024675.4(PALB2):c.2834+1G>T
|
rs587776419
|
|
NM_024675.4(PALB2):c.2861A>G (p.Glu954Gly)
|
rs375942535
|
|
NM_024675.4(PALB2):c.2878del (p.Leu960fs)
|
rs1064795824
|
|
NM_024675.4(PALB2):c.2920_2921del (p.Lys974fs)
|
rs180177126
|
|
NM_024675.4(PALB2):c.2964del (p.Gln988_Val989insTer)
|
rs587781840
|
|
NM_024675.4(PALB2):c.29G>T (p.Ser10Ile)
|
rs876659643
|
|
NM_024675.4(PALB2):c.3037A>G (p.Ile1013Val)
|
rs1567212950
|
|
NM_024675.4(PALB2):c.3048del (p.Phe1016fs)
|
rs515726104
|
|
NM_024675.4(PALB2):c.3103A>T (p.Ile1035Phe)
|
rs863224783
|
|
NM_024675.4(PALB2):c.3116del (p.Asn1039fs)
|
rs180177133
|
|
NM_024675.4(PALB2):c.3202-1G>A
|
rs515726111
|
|
NM_024675.4(PALB2):c.3204G>T (p.Gly1068=)
|
rs786203475
|
|
NM_024675.4(PALB2):c.3209T>C (p.Leu1070Pro)
|
rs863224785
|
|
NM_024675.4(PALB2):c.3217G>T (p.Val1073Phe)
|
rs1555458226
|
|
NM_024675.4(PALB2):c.3220C>G (p.Leu1074Val)
|
rs1057523330
|
|
NM_024675.4(PALB2):c.3296C>T (p.Thr1099Met)
|
rs142132127
|
|
NM_024675.4(PALB2):c.3307G>C (p.Val1103Leu)
|
rs201657283
|
|
NM_024675.4(PALB2):c.3325T>C (p.Cys1109Arg)
|
rs911734555
|
|
NM_024675.4(PALB2):c.3367G>A (p.Val1123Met)
|
rs757118000
|
|
NM_024675.4(PALB2):c.3418T>G (p.Trp1140Gly)
|
rs62625283
|
|
NM_024675.4(PALB2):c.3428T>C (p.Leu1143Pro)
|
rs62625284
|
|
NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter)
|
rs118203998
|
|
NM_024675.4(PALB2):c.359G>C (p.Arg120Thr)
|
rs1251150895
|
|
NM_024675.4(PALB2):c.437G>A (p.Arg146Lys)
|
rs2142443443
|
|
NM_024675.4(PALB2):c.509_510del (p.Arg170fs)
|
rs515726123
|
|
NM_024675.4(PALB2):c.551G>C (p.Ser184Thr)
|
rs587780220
|
|
NM_024675.4(PALB2):c.557A>T (p.Asn186Ile)
|
rs587782164
|
|
NM_024675.4(PALB2):c.599del (p.Leu199_Leu200insTer)
|
rs587782081
|
|
NM_024675.4(PALB2):c.603T>A (p.Ser201Arg)
|
rs769647912
|
|
NM_024675.4(PALB2):c.637G>C (p.Val213Leu)
|
rs786203875
|
|
NM_024675.4(PALB2):c.712A>G (p.Arg238Gly)
|
rs779278389
|
|
NM_024675.4(PALB2):c.757_758del (p.Leu253fs)
|
rs180177092
|
|
NM_024675.4(PALB2):c.779A>G (p.Gln260Arg)
|
rs1597098293
|
|
NM_024675.4(PALB2):c.833_834delinsAT (p.Leu278His)
|
rs587778582
|
|
NM_024675.4(PALB2):c.93dup (p.Leu32fs)
|
rs864622498
|
|
NM_024675.4(PALB2):c.968C>T (p.Ala323Val)
|
rs730881882
|
|
NM_024747.6(HPS6):c.254C>T (p.Pro85Leu)
|
rs544314793
|
|
NM_025215.6(PUS1):c.545-5C>A
|
rs376656565
|
|
NM_030943.4(AMN):c.1056C>A (p.His352Gln)
|
rs773203683
|
|
NM_030943.4(AMN):c.1079_1102del (p.Gly360_Ala367del)
|
rs1034496756
|
|
NM_030943.4(AMN):c.1152C>T (p.Arg384=)
|
rs763597496
|
|
NM_030943.4(AMN):c.1257+20dup
|
rs759269975
|
|
NM_030943.4(AMN):c.14del (p.Gly5fs)
|
rs386834168
|
|
NM_030943.4(AMN):c.760+1G>A
|
rs1555381485
|
|
NM_032043.3(BRIP1):c.110A>G (p.Asn37Ser)
|
rs876659105
|
|
NM_032043.3(BRIP1):c.1219A>G (p.Ser407Gly)
|
rs1555607156
|
|
NM_032043.3(BRIP1):c.1236del (p.Val413fs)
|
rs863224525
|
|
NM_032043.3(BRIP1):c.133G>T (p.Glu45Ter)
|
rs587781292
|
|
NM_032043.3(BRIP1):c.141del (p.Thr48fs)
|
rs587782065
|
|
NM_032043.3(BRIP1):c.1702_1703del (p.Asn568fs)
|
rs1057519365
|
|
NM_032043.3(BRIP1):c.1941G>T (p.Trp647Cys)
|
rs786202760
|
|
NM_032043.3(BRIP1):c.2114_2118del (p.Lys705fs)
|
rs864622611
|
|
NM_032043.3(BRIP1):c.2216T>C (p.Leu739Pro)
|
rs587780234
|
|
NM_032043.3(BRIP1):c.2380G>T (p.Val794Phe)
|
rs1261005517
|
|
NM_032043.3(BRIP1):c.2576-1G>A
|
rs587782539
|
|
NM_032043.3(BRIP1):c.270C>A (p.Cys90Ter)
|
rs1060501740
|
|
NM_032043.3(BRIP1):c.2905+17C>A
|
rs1458780264
|
|
NM_032043.3(BRIP1):c.2990C>T (p.Thr997Ile)
|
rs749978235
|
|
NM_032043.3(BRIP1):c.340C>T (p.Pro114Ser)
|
rs2145827137
|
|
NM_032043.3(BRIP1):c.3439A>G (p.Asn1147Asp)
|
rs1258403817
|
|
NM_032043.3(BRIP1):c.3585G>A (p.Leu1195=)
|
rs2061301182
|
|
NM_032043.3(BRIP1):c.3622G>C (p.Asp1208His)
|
rs760589795
|
|
NM_032043.3(BRIP1):c.3651G>T (p.Trp1217Cys)
|
rs542698396
|
|
NM_032043.3(BRIP1):c.485G>A (p.Arg162Gln)
|
rs61757643
|
|
NM_032043.3(BRIP1):c.508-1G>T
|
rs864622277
|
|
NM_032043.3(BRIP1):c.903del (p.Leu301fs)
|
rs876659490
|
|
NM_032043.3(BRIP1):c.93+8T>G
|
rs1567878012
|
|
NM_032383.5(HPS3):c.182T>C (p.Leu61Pro)
|
rs2108112412
|
|
NM_032383.5(HPS3):c.2208_2209del (p.Gln737fs)
|
rs745457191
|
|
NM_032383.5(HPS3):c.2739_2742del (p.Glu913fs)
|
rs1277509410
|
|
NM_032383.5(HPS3):c.2962A>G (p.Thr988Ala)
|
rs922342164
|
|
NM_032383.5(HPS3):c.660_661del (p.Arg220fs)
|
rs1363164647
|
|
NM_032444.4(SLX4):c.1010C>A (p.Pro337Gln)
|
rs200363140
|
|
NM_032444.4(SLX4):c.1141AGC[2] (p.Ser383del)
|
rs938490986
|
|
NM_032444.4(SLX4):c.1163+10C>T
|
rs80116508
|
|
NM_032444.4(SLX4):c.1163+2dup
|
rs2040719850
|
|
NM_032444.4(SLX4):c.1227G>A (p.Lys409=)
|
rs534443134
|
|
NM_032444.4(SLX4):c.1405C>A (p.Pro469Thr)
|
rs763833617
|
|
NM_032444.4(SLX4):c.1405C>T (p.Pro469Ser)
|
rs763833617
|
|
NM_032444.4(SLX4):c.1550G>A (p.Gly517Asp)
|
rs772562892
|
|
NM_032444.4(SLX4):c.1672C>T (p.Arg558Trp)
|
rs372264472
|
|
NM_032444.4(SLX4):c.1683+9C>T
|
rs1242929879
|
|
NM_032444.4(SLX4):c.1799C>A (p.Pro600Gln)
|
rs749277750
|
|
NM_032444.4(SLX4):c.1799C>T (p.Pro600Leu)
|
rs749277750
|
|
NM_032444.4(SLX4):c.1898G>T (p.Gly633Val)
|
rs1056085
|
|
NM_032444.4(SLX4):c.2023G>C (p.Gly675Arg)
|
rs767473953
|
|
NM_032444.4(SLX4):c.2047G>C (p.Ala683Pro)
|
rs115866745
|
|
NM_032444.4(SLX4):c.2057A>G (p.Asn686Ser)
|
rs571330689
|
|
NM_032444.4(SLX4):c.2194G>A (p.Gly732Arg)
|
rs202189103
|
|
NM_032444.4(SLX4):c.2480A>G (p.Glu827Gly)
|
rs1488400493
|
|
NM_032444.4(SLX4):c.248G>C (p.Gly83Ala)
|
rs771698977
|
|
NM_032444.4(SLX4):c.2520AGA[1] (p.Glu841del)
|
rs2151125733
|
|
NM_032444.4(SLX4):c.2721G>T (p.Glu907Asp)
|
rs141450907
|
|
NM_032444.4(SLX4):c.2857C>G (p.Leu953Val)
|
rs1185482904
|
|
NM_032444.4(SLX4):c.3001A>G (p.Thr1001Ala)
|
rs769494671
|
|
NM_032444.4(SLX4):c.320C>T (p.Ala107Val)
|
rs2040813512
|
|
NM_032444.4(SLX4):c.3366G>A (p.Pro1122=)
|
rs752209638
|
|
NM_032444.4(SLX4):c.3401C>T (p.Ser1134Leu)
|
rs1433489753
|
|
NM_032444.4(SLX4):c.343A>C (p.Ser115Arg)
|
rs959148678
|
|
NM_032444.4(SLX4):c.358A>G (p.Thr120Ala)
|
rs1003342051
|
|
NM_032444.4(SLX4):c.3919_3921del (p.Lys1307del)
|
rs775548839
|
|
NM_032444.4(SLX4):c.4002C>A (p.Asp1334Glu)
|
rs201826765
|
|
NM_032444.4(SLX4):c.420G>A (p.Glu140=)
|
rs753015235
|
|
NM_032444.4(SLX4):c.420G>T (p.Glu140Asp)
|
rs753015235
|
|
NM_032444.4(SLX4):c.421G>C (p.Gly141Arg)
|
rs137976282
|
|
NM_032444.4(SLX4):c.421G>T (p.Gly141Trp)
|
rs137976282
|
|
NM_032444.4(SLX4):c.4250G>A (p.Ser1417Asn)
|
rs1158558800
|
|
NM_032444.4(SLX4):c.4355G>A (p.Ser1452Asn)
|
rs765104618
|
|
NM_032444.4(SLX4):c.4378G>A (p.Glu1460Lys)
|
rs749082427
|
|
NM_032444.4(SLX4):c.4443C>G (p.Ser1481Arg)
|
rs1307537720
|
|
NM_032444.4(SLX4):c.4481_4525del (p.Gly1494_Ser1508del)
|
rs750613465
|
|
NM_032444.4(SLX4):c.4523C>T (p.Ser1508Leu)
|
rs112694849
|
|
NM_032444.4(SLX4):c.4650GAA[2] (p.Lys1552del)
|
rs760517738
|
|
NM_032444.4(SLX4):c.4960C>T (p.His1654Tyr)
|
rs2151116711
|
|
NM_032444.4(SLX4):c.5040G>C (p.Arg1680Ser)
|
rs199592185
|
|
NM_032444.4(SLX4):c.506C>T (p.Ser169Leu)
|
rs776018346
|
|
NM_032444.4(SLX4):c.514del (p.Leu172fs)
|
rs1567178071
|
|
NM_032444.4(SLX4):c.5153+6C>A
|
rs754209356
|
|
NM_032444.4(SLX4):c.5185G>C (p.Glu1729Gln)
|
rs1376464922
|
|
NM_032444.4(SLX4):c.5248_5249delinsTT (p.Ala1750Leu)
|
rs878855163
|
|
NM_032444.4(SLX4):c.5440C>T (p.Arg1814Cys)
|
rs767720336
|
|
NM_032444.4(SLX4):c.5480del (p.Gly1827fs)
|
rs780024167
|
|
NM_032444.4(SLX4):c.610C>G (p.Arg204Gly)
|
rs79842542
|
|
NM_032444.4(SLX4):c.985_987del (p.Ser329del)
|
rs1289726066
|
|
NM_032638.5(GATA2):c.479C>G (p.Thr160Ser)
|
rs751621459
|
|
NM_032638.5(GATA2):c.494A>T (p.His165Leu)
|
rs1559987389
|
|
NM_033360.4(KRAS):c.*101_*106del
|
rs1339924833
|
|
NM_058216.3(RAD51C):c.1026+5_1026+7del
|
rs587781410
|
|
NM_058216.3(RAD51C):c.118G>A (p.Glu40Lys)
|
rs786204086
|
|
NM_058216.3(RAD51C):c.146-2A>G
|
rs1555593457
|
|
NM_058216.3(RAD51C):c.158C>G (p.Ser53Cys)
|
rs876659265
|
|
NM_058216.3(RAD51C):c.163G>A (p.Ala55Thr)
|
rs1555593472
|
|
NM_058216.3(RAD51C):c.186_187del (p.Gln62fs)
|
rs587782170
|
|
NM_058216.3(RAD51C):c.211A>T (p.Asn71Tyr)
|
rs876659936
|
|
NM_058216.3(RAD51C):c.250A>T (p.Lys84Ter)
|
rs1555593616
|
|
NM_058216.3(RAD51C):c.265G>A (p.Glu89Lys)
|
rs876658197
|
|
NM_058216.3(RAD51C):c.352A>G (p.Met118Val)
|
rs2143725777
|
|
NM_058216.3(RAD51C):c.394dup (p.Thr132fs)
|
rs730881940
|
|
NM_058216.3(RAD51C):c.3G>T (p.Met1Ile)
|
rs769053886
|
|
NM_058216.3(RAD51C):c.404+16C>T
|
rs376465837
|
|
NM_058216.3(RAD51C):c.405-1G>C
|
rs587782036
|
|
NM_058216.3(RAD51C):c.463G>A (p.Ala155Thr)
|
rs755879664
|
|
NM_058216.3(RAD51C):c.493A>G (p.Met165Val)
|
rs1555594766
|
|
NM_058216.3(RAD51C):c.525dup (p.Cys176fs)
|
rs768793789
|
|
NM_058216.3(RAD51C):c.529A>G (p.Ile177Val)
|
rs786201828
|
|
NM_058216.3(RAD51C):c.556_558dup (p.Lys186dup)
|
rs776534031
|
|
NM_058216.3(RAD51C):c.653_654del (p.Glu218fs)
|
rs587782286
|
|
NM_058216.3(RAD51C):c.674T>C (p.Leu225Pro)
|
rs1032681872
|
|
NM_058216.3(RAD51C):c.696A>T (p.Glu232Asp)
|
rs786201177
|
|
NM_058216.3(RAD51C):c.701C>G (p.Ser234Ter)
|
rs587782818
|
|
NM_058216.3(RAD51C):c.705+1G>A
|
rs876658644
|
|
NM_058216.3(RAD51C):c.705G>T (p.Lys235Asn)
|
rs755849719
|
|
NM_058216.3(RAD51C):c.706-2A>C
|
rs587780259
|
|
NM_058216.3(RAD51C):c.718A>T (p.Ile240Leu)
|
rs863224806
|
|
NM_058216.3(RAD51C):c.802C>A (p.Gln268Lys)
|
rs1567799818
|
|
NM_058216.3(RAD51C):c.838-20C>G
|
rs766600284
|
|
NM_058216.3(RAD51C):c.88G>T (p.Ala30Ser)
|
rs1331134740
|
|
NM_058216.3(RAD51C):c.904+4G>T
|
rs2048894318
|
|
NM_058216.3(RAD51C):c.905-20A>G
|
rs950351911
|
|
NM_080669.6(SLC46A1):c.981_982del (p.Tyr327_Cys328delinsTer)
|
rs1597834560
|
|
NM_080911.3(UNG):c.544A>G (p.Ile182Val)
|
rs545691651
|
|
NM_139027.6(ADAMTS13):c.1188C>G (p.Cys396Trp)
|
rs1840934191
|
|
NM_139027.6(ADAMTS13):c.1309-20C>G
|
rs2130845090
|
|
NM_139027.6(ADAMTS13):c.1916G>A (p.Arg639His)
|
rs138699340
|
|
NM_139027.6(ADAMTS13):c.3167C>T (p.Ala1056Val)
|
rs376017677
|
|
NM_139027.6(ADAMTS13):c.3657C>T (p.Cys1219=)
|
rs782463983
|
|
NM_139027.6(ADAMTS13):c.373C>T (p.Arg125Trp)
|
rs587701622
|
|
NM_139027.6(ADAMTS13):c.3794A>G (p.Asn1265Ser)
|
rs200645384
|
|
NM_139276.3(STAT3):c.1601-10dup
|
rs3830585
|
|
NM_152564.5(VPS13B):c.11050del (p.Leu3684fs)
|
rs386834058
|
|
NM_152564.5(VPS13B):c.11705_11709delinsAGAA (p.Thr3902fs)
|
rs386834067
|
|
NM_152564.5(VPS13B):c.11967_11970dup (p.Ala3991Ter)
|
rs769983613
|
|
NM_152564.5(VPS13B):c.2323C>G (p.Pro775Ala)
|
rs779218452
|
|
NM_152564.5(VPS13B):c.2932C>T (p.Gln978Ter)
|
rs1563700205
|
|
NM_152564.5(VPS13B):c.3083-1G>A
|
rs1563726973
|
|
NM_152564.5(VPS13B):c.3870+1G>T
|
rs764225649
|
|
NM_152564.5(VPS13B):c.4848G>C (p.Trp1616Cys)
|
rs180177360
|
|
NM_152564.5(VPS13B):c.5244dup (p.Val1749fs)
|
rs752399634
|
|
NM_152564.5(VPS13B):c.6865+1G>T
|
rs202046738
|
|
NM_152564.5(VPS13B):c.7136G>T (p.Cys2379Phe)
|
rs1373068816
|
|
NM_152564.5(VPS13B):c.7247+2T>C
|
rs1563908020
|
|
NM_152564.5(VPS13B):c.8446A>G (p.Ile2816Val)
|
rs373961820
|
|
NM_152703.5(SAMD9L):c.1364T>C (p.Val455Ala)
|
rs751090202
|
|
NM_172351.3(CD46):c.286+27del
|
rs371729129
|
|
NM_172351.3(CD46):c.476-6_476-5delinsG
|
rs1656165500
|
|
NM_172351.3(CD46):c.714_715del (p.Gln238fs)
|
rs1571616755
|
|
NM_173842.3(IL1RN):c.300G>A (p.Glu100=)
|
rs776628808
|
|
NM_181507.2(HPS5):c.1324-32dup
|
rs369116404
|
|
NM_181507.2(HPS5):c.2077del (p.Arg693fs)
|
rs746844529
|
|
NM_181507.2(HPS5):c.2928_2929dup (p.Thr977fs)
|
rs397507169
|
|
NM_181507.2(HPS5):c.323G>T (p.Arg108Leu)
|
rs201664625
|
|
NM_181523.3(PIK3R1):c.1425+1G>A
|
rs587777709
|
|
NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp)
|
rs397515453
|
|
NM_182916.3(TRNT1):c.925T>G (p.Leu309Val)
|
rs985101465
|
|
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.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_203447.4(DOCK8):c.2T>C (p.Met1Thr)
|
rs760902978
|
|
NM_206937.2(LIG4):c.1271_1275del (p.Lys424fs)
|
rs772226399
|
|
NM_206937.2(LIG4):c.1704_1705delinsCG (p.Met569Val)
|
rs1878367870
|
|
NM_206965.2(FTCD):c.1103C>T (p.Ala368Val)
|
rs1033001525
|
|
NM_206965.2(FTCD):c.530G>A (p.Gly177Glu)
|
rs760709342
|
|