NM_001361.5(DHODH):c.435-38G>C
|
rs11075914
|
0.99994
|
NM_198569.3(ADGRG6):c.3380A>G (p.Gln1127Arg)
|
rs1262686
|
0.99767
|
NM_000079.4(CHRNA1):c.235-385C>T
|
rs2646164
|
0.99734
|
NM_020436.5(SALL4):c.540T>C (p.Asn180=)
|
rs6013281
|
0.99661
|
NM_002334.4(LRP4):c.1623T>C (p.Asp541=)
|
rs10769215
|
0.99630
|
NM_198569.3(ADGRG6):c.1476G>A (p.Leu492=)
|
rs989946
|
0.99467
|
NM_182961.4(SYNE1):c.21904T>G (p.Phe7302Val)
|
rs2147377
|
0.99149
|
NM_002968.3(SALL1):c.3823G>A (p.Val1275Ile)
|
rs4614723
|
0.98884
|
NM_005445.4(SMC3):c.3039A>G (p.Ser1013=)
|
rs2419565
|
0.98861
|
NM_004260.4(RECQL4):c.3127T>C (p.Leu1043=)
|
rs4925828
|
0.98841
|
NM_003334.4(UBA1):c.811+9C>G
|
rs4239964
|
0.98795
|
NM_033116.6(NEK9):c.*13G>A
|
rs175487
|
0.98559
|
NM_004260.4(RECQL4):c.274T>C (p.Ser92Pro)
|
rs2721190
|
0.98532
|
NM_032634.4(PIGO):c.*41T>G
|
rs556766
|
0.98454
|
NM_020639.3(RIPK4):c.1996A>G (p.Met666Val)
|
rs3746891
|
0.98229
|
NM_002010.3(FGF9):c.*9G>A
|
rs9509842
|
0.98213
|
NM_016653.3(MAP3K20):c.670-11G>C
|
rs11899707
|
0.98158
|
NM_002334.4(LRP4):c.1638A>G (p.Lys546=)
|
rs10838631
|
0.98127
|
NM_005236.3(ERCC4):c.974-7G>A
|
rs254942
|
0.97995
|
NM_000059.4(BRCA2):c.4563A>G (p.Leu1521=)
|
rs206075
|
0.97986
|
NM_001164508.2(NEB):c.9124T>C (p.Cys3042Arg)
|
rs6710212
|
0.97529
|
NM_001999.4(FBN2):c.*635A>G
|
rs27858
|
0.97464
|
NM_000135.4(FANCA):c.1225+151T>C
|
rs6500451
|
0.97075
|
NM_000135.4(FANCA):c.2316+67A>G
|
rs7200990
|
0.97043
|
NM_022725.4(FANCF):c.*632G>A
|
rs444923
|
0.97022
|
NM_022725.4(FANCF):c.*819C>T
|
rs450946
|
0.96809
|
NM_005445.4(SMC3):c.2116+23G>A
|
rs7075340
|
0.96693
|
NM_001429.4(EP300):c.2053+8G>T
|
rs6002267
|
0.96326
|
NM_004826.4(ECEL1):c.982C>T (p.His328Tyr)
|
rs1529874
|
0.96312
|
NM_139284.3(LGI4):c.456T>C (p.His152=)
|
rs1673007
|
0.96172
|
NM_001113378.2(FANCI):c.2547= (p.Lys849=)
|
rs7183618
|
0.95848
|
NM_153717.3(EVC):c.769C>T (p.Leu257=)
|
rs6446393
|
0.95639
|
NM_013352.4(DSE):c.1926T>C (p.Asn642=)
|
rs560644
|
0.95438
|
NM_002465.4(MYBPC1):c.2544T>C (p.Ile848=)
|
rs7139095
|
0.95112
|
NM_005592.4(MUSK):c.1586+26T>C
|
rs484010
|
0.94561
|
NM_002465.4(MYBPC1):c.1633+33T>C
|
rs1997204
|
0.94445
|
NM_000921.5(PDE3A):c.1194C>T (p.Val398=)
|
rs10743380
|
0.89795
|
NM_000921.5(PDE3A):c.2769+30C>T
|
rs9284155
|
0.89678
|
NM_015425.6(POLR1A):c.1258-19A>G
|
rs2288117
|
0.88485
|
NM_017617.5(NOTCH1):c.1669+9T>C
|
rs3125006
|
0.88208
|
NM_001374353.1(GLI2):c.1060-27C>T
|
rs2592591
|
0.88085
|
NM_000079.4(CHRNA1):c.1003-53A>G
|
rs2646159
|
0.87287
|
NM_016213.5(TRIP4):c.1596G>A (p.Glu532=)
|
rs7167612
|
0.87160
|
NM_001793.6(CDH3):c.390+37T>C
|
rs2296410
|
0.87073
|
NM_002472.3(MYH8):c.714T>C (p.Thr238=)
|
rs8068729
|
0.86257
|
NM_182961.4(SYNE1):c.17203-48G>A
|
rs4112833
|
0.85656
|
NM_001793.6(CDH3):c.*154G>T
|
rs1886699
|
0.85426
|
NM_001164508.2(NEB):c.294+52T>G
|
rs4664499
|
0.85425
|
NM_001137601.3(ZBTB42):c.45A>G (p.Arg15=)
|
rs12878684
|
0.84662
|
NM_001378183.1(PIEZO2):c.2305C>T (p.Leu769=)
|
rs6505592
|
0.84626
|
NM_001378183.1(PIEZO2):c.2492+48del
|
rs3830641
|
0.84419
|
NM_001378183.1(PIEZO2):c.4708+18C>T
|
rs5024299
|
0.83716
|
NM_020754.4(ARHGAP31):c.2407G>A (p.Gly803Ser)
|
rs3732413
|
0.83326
|
NM_001378183.1(PIEZO2):c.3036A>G (p.Thr1012=)
|
rs7227167
|
0.83322
|
NM_001374353.1(GLI2):c.801G>A (p.Ser267=)
|
rs2592595
|
0.82634
|
NM_182961.4(SYNE1):c.15043T>A (p.Leu5015Met)
|
rs2306916
|
0.82174
|
NM_003282.4(TNNI2):c.60T>C (p.Ser20=)
|
rs907610
|
0.82025
|
NM_001378183.1(PIEZO2):c.3867C>T (p.Asn1289=)
|
rs7407105
|
0.81713
|
NM_001378183.1(PIEZO2):c.3451-28T>C
|
rs2865119
|
0.81541
|
NM_001164508.2(NEB):c.3901T>C (p.Tyr1301His)
|
rs6711382
|
0.81103
|
NM_006757.4(TNNT3):c.83-48A>G
|
rs629990
|
0.81000
|
NM_006757.4(TNNT3):c.107-115T>C
|
rs2292471
|
0.80994
|
NM_182961.4(SYNE1):c.13786T>A (p.Ser4596Thr)
|
rs6911096
|
0.80856
|
NM_182961.4(SYNE1):c.12362A>G (p.Lys4121Arg)
|
rs9479297
|
0.80638
|
NM_182961.4(SYNE1):c.12352-39A>G
|
rs9479298
|
0.80324
|
NM_181486.4(TBX5):c.*1101A>G
|
rs6489956
|
0.80110
|
NM_014875.3(KIF14):c.3096A>G (p.Glu1032=)
|
rs6665951
|
0.79936
|
NM_006757.4(TNNT3):c.681+63T>C
|
rs513735
|
0.79566
|
NM_020639.3(RIPK4):c.*90T>C
|
rs6586232
|
0.79267
|
NM_182961.4(SYNE1):c.1463+24G>T
|
rs4523096
|
0.78969
|
NM_002010.3(FGF9):c.447A>G (p.Ser149=)
|
rs9509841
|
0.78590
|
NM_001137601.3(ZBTB42):c.694G>A (p.Glu232Lys)
|
rs4983387
|
0.78331
|
NM_001378183.1(PIEZO2):c.3081C>T (p.Leu1027=)
|
rs7241380
|
0.78175
|
NM_001164508.2(NEB):c.402+101A>G
|
rs4300824
|
0.78142
|
NM_002470.4(MYH3):c.4957-16G>C
|
rs2239936
|
0.78067
|
NM_015425.6(POLR1A):c.448C>G (p.Pro150Ala)
|
rs4832242
|
0.77586
|
NM_001374353.1(GLI2):c.643+35T>C
|
rs12617878
|
0.77226
|
NM_001374353.1(GLI2):c.643+24G>A
|
rs12614482
|
0.77219
|
NM_006757.4(TNNT3):c.32-149A>T
|
rs2734500
|
0.76033
|
NM_004629.2(FANCG):c.511-45A>G
|
rs554098
|
0.75732
|
NM_021922.3(FANCE):c.249-35A>G
|
rs7757405
|
0.74257
|
NM_032043.3(BRIP1):c.2637A>G (p.Glu879=)
|
rs4986765
|
0.74166
|
NM_016213.5(TRIP4):c.1044-25G>A
|
rs2046356
|
0.74036
|
NM_001271938.2(MEGF8):c.1933+27A>G
|
rs874002
|
0.73512
|
NM_173660.5(DOK7):c.533-29A>G
|
rs2006791
|
0.73240
|
NM_006757.4(TNNT3):c.18-76A>G
|
rs965912
|
0.73230
|
NM_018124.4(RFWD3):c.269C>A (p.Thr90Asn)
|
rs8058922
|
0.72932
|
NM_016653.3(MAP3K20):c.1360-28A>G
|
rs820008
|
0.72578
|
NM_153717.3(EVC):c.2305-8T>C
|
rs1031919
|
0.72106
|
NM_153717.3(EVC):c.772T>C (p.Tyr258His)
|
rs6414624
|
0.72068
|
NM_153717.3(EVC):c.2894+18A>G
|
rs2279250
|
0.71871
|
NM_015425.6(POLR1A):c.77+14C>T
|
rs4832245
|
0.71646
|
NM_000135.4(FANCA):c.710-12A>G
|
rs1800286
|
0.71452
|
NM_001378183.1(PIEZO2):c.7952+33C>T
|
rs487037
|
0.70798
|
NM_020639.3(RIPK4):c.937-45T>G
|
rs2277790
|
0.70798
|
NM_022725.4(FANCF):c.*207C>T
|
rs4447177
|
0.70234
|
NM_018062.4(FANCL):c.981T>C (p.Ser327=)
|
rs848291
|
0.69782
|
NM_002470.4(MYH3):c.3574G>A (p.Ala1192Thr)
|
rs2285477
|
0.69723
|
NM_015425.6(POLR1A):c.678G>A (p.Thr226=)
|
rs2288120
|
0.69550
|
NM_001164508.2(NEB):c.3081A>T (p.Lys1027Asn)
|
rs6735208
|
0.69255
|
NM_001999.4(FBN2):c.7200T>C (p.Ser2400=)
|
rs190450
|
0.69111
|
NM_032043.3(BRIP1):c.*3514T>G
|
rs10744996
|
0.68796
|
NM_001999.4(FBN2):c.5675-9C>T
|
rs27713
|
0.68788
|
NM_001999.4(FBN2):c.2893G>A (p.Val965Ile)
|
rs154001
|
0.68054
|
NM_003632.3(CNTNAP1):c.364-34A>G
|
rs9889373
|
0.68019
|
NM_001164508.2(NEB):c.771T>C (p.Ala257=)
|
rs4611637
|
0.68008
|
NM_138959.3(VANGL1):c.*505A>G
|
rs6700610
|
0.67885
|
NM_014918.5(CHSY1):c.2322C>A (p.Thr774=)
|
rs8024370
|
0.67566
|
NM_153717.3(EVC):c.939+10A>G
|
rs2286342
|
0.67122
|
NM_015425.6(POLR1A):c.4224G>A (p.Gly1408=)
|
rs2276626
|
0.67028
|
NM_017617.5(NOTCH1):c.3325+21A>G
|
rs3124597
|
0.66794
|
NM_017617.5(NOTCH1):c.2970-31A>G
|
rs3124598
|
0.66710
|
NM_001374353.1(GLI2):c.3865G>A (p.Asp1289Asn)
|
rs12711538
|
0.66550
|
NM_004826.4(ECEL1):c.787-23G>C
|
rs2573246
|
0.66473
|
NM_001164508.2(NEB):c.18305G>C (p.Arg6102Thr)
|
rs2288210
|
0.66332
|
NM_001164508.2(NEB):c.4471G>A (p.Val1491Met)
|
rs7426114
|
0.66326
|
NM_001330677.2(TBX15):c.694-49T>C
|
rs4659129
|
0.65459
|
NM_020754.4(ARHGAP31):c.1926+5A>G
|
rs1463139
|
0.65459
|
NM_020812.4(DOCK6):c.3876A>G (p.Leu1292=)
|
rs4804151
|
0.65403
|
NM_001164508.2(NEB):c.24580-81A>G
|
rs4664455
|
0.65048
|
NM_001164508.2(NEB):c.24766-18C>T
|
rs2288195
|
0.64910
|
NM_182961.4(SYNE1):c.10191C>A (p.Gly3397=)
|
rs4407724
|
0.64816
|
NM_182961.4(SYNE1):c.19471-18C>T
|
rs6557210
|
0.64435
|
NM_001378183.1(PIEZO2):c.4514+32C>T
|
rs8093389
|
0.64387
|
NM_001164508.2(NEB):c.24433G>C (p.Ala8145Pro)
|
rs7575451
|
0.64120
|
NM_138959.3(VANGL1):c.813-45C>A
|
rs10754330
|
0.64088
|
NM_002334.4(LRP4):c.*561T>C
|
rs3829940
|
0.64017
|
NM_020812.4(DOCK6):c.3858T>C (p.Asp1286=)
|
rs4804152
|
0.63966
|
NM_001378183.1(PIEZO2):c.4290T>A (p.Leu1430=)
|
rs8096037
|
0.63926
|
NM_033419.5(PGAP3):c.900-10T>C
|
rs2247862
|
0.63744
|
NM_032444.4(SLX4):c.4500T>C (p.Asn1500=)
|
rs3810812
|
0.63612
|
NM_001164508.2(NEB):c.20158-42G>A
|
rs2288201
|
0.63566
|
NM_033419.5(PGAP3):c.465T>C (p.Val155=)
|
rs2941504
|
0.63491
|
NM_017617.5(NOTCH1):c.1556-43T>C
|
rs4880099
|
0.63476
|
NM_001018113.3(FANCB):c.-173G>C
|
rs2188383
|
0.63320
|
NM_002470.4(MYH3):c.1581+13A>C
|
rs2285468
|
0.63294
|
NM_004247.4(EFTUD2):c.1059-31T>C
|
rs2120276
|
0.63264
|
NM_002465.4(MYBPC1):c.2222-38T>C
|
rs2254631
|
0.63203
|
NM_002470.4(MYH3):c.534-44T>C
|
rs1989810
|
0.63169
|
NM_001793.6(CDH3):c.720G>A (p.Thr240=)
|
rs2296409
|
0.63066
|
NM_001793.6(CDH3):c.813C>A (p.Thr271=)
|
rs2296408
|
0.62977
|
NM_017617.5(NOTCH1):c.312T>C (p.Asn104=)
|
rs4489420
|
0.62688
|
NM_001164508.2(NEB):c.1674+30T>G
|
rs6433569
|
0.62430
|
NM_017617.5(NOTCH1):c.5473-43T>C
|
rs3124594
|
0.62391
|
NM_004247.4(EFTUD2):c.426+8G>A
|
rs2289677
|
0.62345
|
NM_001164508.2(NEB):c.9363T>C (p.Pro3121=)
|
rs6709886
|
0.62301
|
NM_001793.6(CDH3):c.1626T>C (p.Asn542=)
|
rs2296405
|
0.62283
|
NM_182961.4(SYNE1):c.25038T>C (p.Arg8346=)
|
rs2256135
|
0.62211
|
NM_001374353.1(GLI2):c.2242+35A>G
|
rs2276553
|
0.62175
|
NM_001164508.2(NEB):c.21840+82A>G
|
rs2288198
|
0.61992
|
NM_005055.5(RAPSN):c.456T>C (p.Tyr152=)
|
rs7111873
|
0.61686
|
NM_005055.5(RAPSN):c.1143T>C (p.Pro381=)
|
rs7126210
|
0.61595
|
NM_001374353.1(GLI2):c.3888A>G (p.Pro1296=)
|
rs10167980
|
0.61468
|
NM_032043.3(BRIP1):c.2755T>C (p.Ser919Pro)
|
rs4986764
|
0.61453
|
NM_153717.3(EVC):c.*14G>A
|
rs2291151
|
0.61437
|
NM_000921.5(PDE3A):c.1760+38A>C
|
rs7304499
|
0.61326
|
NM_032043.3(BRIP1):c.*483C>T
|
rs7213430
|
0.61289
|
NM_016111.4(TELO2):c.682+115C>T
|
rs2235630
|
0.61186
|
NM_001374353.1(GLI2):c.3415G>T (p.Ala1139Ser)
|
rs3738880
|
0.61025
|
NM_001793.6(CDH3):c.1956G>A (p.Lys652=)
|
rs2274239
|
0.61024
|
NM_153717.3(EVC):c.802-15C>T
|
rs4689313
|
0.60798
|
NM_182895.5(SCARF2):c.2498C>G (p.Ala833Gly)
|
rs874101
|
0.60739
|
NM_032043.3(BRIP1):c.3411T>C (p.Tyr1137=)
|
rs4986763
|
0.60694
|
NM_001429.4(EP300):c.3183T>A (p.Thr1061=)
|
rs20552
|
0.59984
|
NM_020812.4(DOCK6):c.377+12T>A
|
rs8113582
|
0.59788
|
NM_001164508.2(NEB):c.22162-108C>T
|
rs2288196
|
0.59579
|
NM_001164508.2(NEB):c.22800+32C>T
|
rs16830136
|
0.59551
|
NM_002472.3(MYH8):c.3270C>T (p.Ile1090=)
|
rs3744552
|
0.59381
|
NM_182961.4(SYNE1):c.11734-5T>G
|
rs9478320
|
0.59305
|
NM_001164508.2(NEB):c.20368-57G>A
|
rs4664486
|
0.59006
|
NM_018124.4(RFWD3):c.1212G>A (p.Thr404=)
|
rs4888262
|
0.58882
|
NM_003632.3(CNTNAP1):c.151A>C (p.Arg51=)
|
rs2271029
|
0.58855
|
NM_002470.4(MYH3):c.5457+9dup
|
rs397750512
|
0.58793
|
NM_017617.5(NOTCH1):c.6555C>T (p.Asp2185=)
|
rs2229974
|
0.58641
|
NM_002470.4(MYH3):c.2151C>A (p.Gly717=)
|
rs876657
|
0.58590
|
NM_018668.5(VPS33B):c.1540G>A (p.Gly514Ser)
|
rs11073964
|
0.58143
|
NM_182961.4(SYNE1):c.10866T>C (p.Ser3622=)
|
rs9397102
|
0.57769
|
NM_002470.4(MYH3):c.4731C>T (p.Ile1577=)
|
rs2285479
|
0.57510
|
NM_017617.5(NOTCH1):c.1441+7C>T
|
rs9411208
|
0.57467
|
NM_182961.4(SYNE1):c.11580+15C>T
|
rs6908392
|
0.57402
|
NM_002470.4(MYH3):c.2532A>G (p.Ala844=)
|
rs2285469
|
0.57316
|
NM_002470.4(MYH3):c.2166-15A>G
|
rs876660
|
0.57314
|
NM_002470.4(MYH3):c.1141+32G>A
|
rs2239934
|
0.57301
|
NM_002470.4(MYH3):c.2916A>G (p.Thr972=)
|
rs2285472
|
0.57294
|
NM_002470.4(MYH3):c.2926-12A>G
|
rs2285473
|
0.57289
|
NM_002470.4(MYH3):c.2952T>C (p.Ser984=)
|
rs2285474
|
0.57288
|
NM_002470.4(MYH3):c.4956+32C>T
|
rs4792008
|
0.57288
|
NM_002470.4(MYH3):c.1003-22C>T
|
rs2239933
|
0.57286
|
NM_018668.5(VPS33B):c.-325T>C
|
rs11073967
|
0.57234
|
NM_002470.4(MYH3):c.349-43C>T
|
rs2285466
|
0.57166
|
NM_001005361.3(DNM2):c.236-29C>G
|
rs3826803
|
0.56569
|
NM_001164508.2(NEB):c.20998-44A>C
|
rs3732310
|
0.56531
|
NM_001079520.2(DACT1):c.268C>T (p.Leu90=)
|
rs2003021
|
0.56249
|
NM_000557.5(GDF5):c.-48=
|
rs143384
|
0.56056
|
NM_001361.5(DHODH):c.*1051A>G
|
rs2287999
|
0.55850
|
NM_001361.5(DHODH):c.*783A>G
|
rs2288000
|
0.55819
|
NM_182961.4(SYNE1):c.12180G>T (p.Glu4060Asp)
|
rs4645434
|
0.55815
|
NM_001164508.2(NEB):c.19731+103G>T
|
rs4575719
|
0.55813
|
NM_001361.5(DHODH):c.*1171T>C
|
rs2287998
|
0.55799
|
NM_001361.5(DHODH):c.*574G>T
|
rs2288001
|
0.55770
|
NM_001164508.2(NEB):c.21585A>G (p.Thr7195=)
|
rs4664475
|
0.55659
|
NM_002465.4(MYBPC1):c.*78G>A
|
rs2764
|
0.55606
|
NM_001164508.2(NEB):c.21522+78C>G
|
rs60806638
|
0.55600
|
NM_012398.3(PIP5K1C):c.468+20C>T
|
rs3826944
|
0.55166
|
NM_020812.4(DOCK6):c.4050T>C (p.Asn1350=)
|
rs2304155
|
0.55134
|
NM_004629.2(FANCG):c.84+77C>A
|
rs504082
|
0.54871
|
NM_181486.4(TBX5):c.663+36G>T
|
rs2236017
|
0.54802
|
NM_004260.4(RECQL4):c.132A>G (p.Glu44=)
|
rs2306386
|
0.54741
|
NM_020639.3(RIPK4):c.1196-43A>G
|
rs3746895
|
0.54619
|
NM_001361.5(DHODH):c.518-39G>T
|
rs1862752
|
0.54545
|
NM_001361.5(DHODH):c.19A>C (p.Lys7Gln)
|
rs3213422
|
0.54012
|
NM_000059.4(BRCA2):c.7806-14T>C
|
rs9534262
|
0.53977
|
NM_020812.4(DOCK6):c.749C>T (p.Pro250Leu)
|
rs12978266
|
0.53878
|
NM_001018113.3(FANCB):c.1327-10T>C
|
rs2905223
|
0.53797
|
NM_001113525.2(ZNF276):c.*1693A>T
|
rs7195906
|
0.53795
|
NM_012398.3(PIP5K1C):c.1787+31G>A
|
rs3815338
|
0.53685
|
NM_000135.4(FANCA):c.1226-80T>C
|
rs6500450
|
0.53395
|
NM_000135.4(FANCA):c.1084-49G>C
|
rs1800287
|
0.53385
|
NM_014875.3(KIF14):c.4020G>A (p.Glu1340=)
|
rs7543730
|
0.53314
|
NM_000921.5(PDE3A):c.2925+15T>C
|
rs10743384
|
0.53300
|
NM_001793.6(CDH3):c.2239C>A (p.Arg747=)
|
rs17715450
|
0.53279
|
NM_020639.3(RIPK4):c.1548C>T (p.Asp516=)
|
rs2838113
|
0.53199
|
NM_003632.3(CNTNAP1):c.1736-22G>A
|
rs3760386
|
0.53157
|
NM_000557.5(GDF5):c.-275=
|
rs143383
|
0.53070
|
NM_153717.3(EVC):c.1026G>C (p.Leu342=)
|
rs4688962
|
0.52761
|
NM_000135.4(FANCA):c.596+74G>A
|
rs1800285
|
0.52593
|
NM_000135.4(FANCA):c.796A>G (p.Thr266Ala)
|
rs7190823
|
0.52564
|
NM_002470.4(MYH3):c.349-76T>C
|
rs71360285
|
0.52372
|
NM_182961.4(SYNE1):c.3104T>C (p.Val1035Ala)
|
rs214976
|
0.52364
|
NM_001982.4(ERBB3):c.234+8A>T
|
rs2271194
|
0.52361
|
NM_032634.4(PIGO):c.1119+7A>G
|
rs568300
|
0.52243
|
NM_182961.4(SYNE1):c.3505-39A>C
|
rs502268
|
0.51916
|
NM_000135.4(FANCA):c.2222+107T>C
|
rs886951
|
0.51679
|
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser)
|
rs2239359
|
0.51262
|
NM_016111.4(TELO2):c.437A>G (p.Gln146Arg)
|
rs2235624
|
0.51194
|
NM_001429.4(EP300):c.4453-23T>C
|
rs2076577
|
0.51146
|
NM_000135.4(FANCA):c.1826+15T>C
|
rs1800337
|
0.51138
|
NM_000135.4(FANCA):c.2222+100A>G
|
rs886950
|
0.51061
|
NM_001164508.2(NEB):c.10452+71T>C
|
rs10186482
|
0.50955
|
NM_020812.4(DOCK6):c.4044G>A (p.Pro1348=)
|
rs2304154
|
0.50722
|
NM_002334.4(LRP4):c.3256A>G (p.Ile1086Val)
|
rs6485702
|
0.50674
|
NM_000135.4(FANCA):c.1471-119A>T
|
rs12448860
|
0.50554
|
NM_012398.3(PIP5K1C):c.1345+25C>T
|
rs12460780
|
0.50552
|
NM_000135.4(FANCA):c.1715+82T>C
|
rs1800335
|
0.50497
|
NM_033116.6(NEK9):c.300T>A (p.Ile100=)
|
rs175449
|
0.50389
|
NM_002968.3(SALL1):c.2574C>T (p.Leu858=)
|
rs1965024
|
0.50381
|
NM_182961.4(SYNE1):c.1047+4T>A
|
rs9397106
|
0.50379
|
NM_000135.4(FANCA):c.1826+99T>A
|
rs7187436
|
0.50149
|
NM_002472.3(MYH8):c.5074T>C (p.Trp1692Arg)
|
rs8069834
|
0.50046
|
NM_001999.4(FBN2):c.533-2432T>C
|
rs17677603
|
0.50039
|
NM_182961.4(SYNE1):c.9147-13G>A
|
rs214955
|
0.49738
|
NM_004826.4(ECEL1):c.2229-29A>C
|
rs2741279
|
0.49585
|
NM_020812.4(DOCK6):c.4959C>T (p.Asn1653=)
|
rs8409
|
0.49265
|
NM_004625.4(WNT7A):c.298+37C>A
|
rs3749319
|
0.48979
|
NM_017617.5(NOTCH1):c.2588-4G>A
|
rs3125001
|
0.48926
|
NM_182961.4(SYNE1):c.12795-12A>G
|
rs9478314
|
0.48867
|
NM_182961.4(SYNE1):c.8177+20A>T
|
rs214943
|
0.48837
|
NM_001113525.2(ZNF276):c.1574+23del
|
rs17233826
|
0.48664
|
NM_000136.3(FANCC):c.1155-38T>C
|
rs4647534
|
0.48457
|
NM_002693.3(POLG):c.3643+257T>G
|
rs1061316
|
0.48343
|
NM_001018115.3(FANCD2):c.1414-23T>C
|
rs10222446
|
0.48329
|
NM_020754.4(ARHGAP31):c.1926+11T>C
|
rs1463138
|
0.48304
|
NM_182961.4(SYNE1):c.17346+38C>T
|
rs9371581
|
0.48251
|
NM_017617.5(NOTCH1):c.1555+10A>G
|
rs11145767
|
0.47945
|
NM_178565.5(RSPO2):c.616+42_616+43dup
|
rs3039298
|
0.47825
|
NM_001113378.2(FANCI):c.288+37G>A
|
rs16942918
|
0.47622
|
NM_020754.4(ARHGAP31):c.100+77A>T
|
rs3732412
|
0.47316
|
NM_014176.4(UBE2T):c.15A>G (p.Ser5=)
|
rs14451
|
0.47315
|
NM_182961.4(SYNE1):c.7713-49G>A
|
rs214944
|
0.47302
|
NM_017617.5(NOTCH1):c.1670-9A>G
|
rs3124603
|
0.47096
|
NM_001113378.2(FANCI):c.1698+15C>T
|
rs9806604
|
0.46880
|
NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp)
|
rs7195066
|
0.46389
|
NM_000135.4(FANCA):c.1471-73G>A
|
rs2239360
|
0.45821
|
NM_000141.5(FGFR2):c.2301+15C>T
|
rs2278202
|
0.45747
|
NM_000751.3(CHRND):c.12A>G (p.Pro4=)
|
rs2245601
|
0.45730
|
NM_147127.5(EVC2):c.2095A>G (p.Thr699Ala)
|
rs730469
|
0.45556
|
NM_182961.4(SYNE1):c.9651+47C>T
|
rs1873176
|
0.45478
|
NM_001999.4(FBN2):c.6880+17G>A
|
rs2042327
|
0.45423
|
NM_000135.4(FANCA):c.596+143T>G
|
rs11076627
|
0.45367
|
NM_003722.5(TP63):c.-58A>T
|
rs28673064
|
0.45321
|
NM_000136.3(FANCC):c.*1288T>C
|
rs4647554
|
0.45294
|
NM_001999.4(FBN2):c.-309A>G
|
rs7732639
|
0.45240
|
NM_001793.6(CDH3):c.160+117G>A
|
rs2236393
|
0.44521
|
NM_002532.6(NUP88):c.2172T>C (p.His724=)
|
rs11209
|
0.44165
|
NM_182961.4(SYNE1):c.7029+45T>C
|
rs177330
|
0.43899
|
NM_017617.5(NOTCH1):c.5094C>T (p.Asp1698=)
|
rs10521
|
0.43502
|
NM_001793.6(CDH3):c.247-38A>G
|
rs1952048
|
0.43462
|
NM_000141.5(FGFR2):c.*259C>T
|
rs1047057
|
0.43446
|
NM_017617.5(NOTCH1):c.2265T>C (p.Asn755=)
|
rs2229971
|
0.42989
|
NM_006306.4(SMC1A):c.-19C>T
|
rs1264011
|
0.42752
|
NM_033116.6(NEK9):c.324C>T (p.His108=)
|
rs8017642
|
0.42590
|
NM_002532.6(NUP88):c.2157A>G (p.Lys719=)
|
rs1071705
|
0.42492
|
NM_002532.6(NUP88):c.1292-19G>A
|
rs1806240
|
0.42485
|
NM_032043.3(BRIP1):c.-205G>A
|
rs2048718
|
0.42481
|
NM_002532.6(NUP88):c.1836-38G>T
|
rs748486
|
0.42467
|
NM_002532.6(NUP88):c.1389A>T (p.Pro463=)
|
rs14231
|
0.42466
|
NM_002532.6(NUP88):c.1916+3C>T
|
rs739768
|
0.42452
|
NM_002532.6(NUP88):c.1916+25T>G
|
rs739767
|
0.42442
|
NM_002334.4(LRP4):c.4660A>G (p.Ser1554Gly)
|
rs2306029
|
0.42236
|
NM_021922.3(FANCE):c.900+39A>G
|
rs13214239
|
0.42135
|
NM_016111.4(TELO2):c.2226+38A>G
|
rs11248882
|
0.42009
|
NM_020639.3(RIPK4):c.2331G>A (p.Thr777=)
|
rs7276592
|
0.41978
|
NM_020639.3(RIPK4):c.1476G>A (p.Ala492=)
|
rs3746893
|
0.41949
|
NM_004260.4(RECQL4):c.801G>C (p.Glu267Asp)
|
rs4244612
|
0.41942
|
NM_020639.3(RIPK4):c.1203C>T (p.Gly401=)
|
rs3746894
|
0.41922
|
NM_000900.5(MGP):c.304A>G (p.Thr102Ala)
|
rs4236
|
0.41895
|
NM_138959.3(VANGL1):c.*4478C>T
|
rs17034226
|
0.41876
|
NM_138959.3(VANGL1):c.*2351T>G
|
rs12121158
|
0.41872
|
NM_001113378.2(FANCI):c.3906T>C (p.Gly1302=)
|
rs1138465
|
0.41848
|
NM_000135.4(FANCA):c.1226-20A>G
|
rs1800330
|
0.41702
|
NM_138959.3(VANGL1):c.*5751A>G
|
rs10801933
|
0.41406
|
NM_020639.3(RIPK4):c.*560A>G
|
rs3746890
|
0.41259
|
NM_004260.4(RECQL4):c.3236+13C>T
|
rs4244610
|
0.41215
|
NM_016111.4(TELO2):c.2021A>G (p.Gln674Arg)
|
rs2248128
|
0.41062
|
NM_000135.4(FANCA):c.3240-42G>A
|
rs1800345
|
0.40844
|
NM_153717.3(EVC):c.969T>C (p.Asn323=)
|
rs4688963
|
0.40746
|
NM_017617.5(NOTCH1):c.1442-43C>T
|
rs9411254
|
0.40689
|
NM_001164508.2(NEB):c.25204A>G (p.Ile8402Val)
|
rs1061305
|
0.40617
|
NM_000135.4(FANCA):c.2151+8T>C
|
rs1800340
|
0.40536
|
NM_001113525.2(ZNF276):c.*1323G>A
|
rs1061646
|
0.40513
|
NM_020639.3(RIPK4):c.*782_*783dup
|
rs34075882
|
0.40146
|
NM_138959.3(VANGL1):c.*5368G>A
|
rs10494179
|
0.39762
|
NM_138959.3(VANGL1):c.*5995A>T
|
rs4595366
|
0.39755
|
NM_138959.3(VANGL1):c.*5841A>T
|
rs4548441
|
0.39752
|
NM_000135.4(FANCA):c.1084-29A>G
|
rs6500452
|
0.39672
|
NM_004260.4(RECQL4):c.1258+18G>A
|
rs4251689
|
0.38613
|
NM_000557.5(GDF5):c.826= (p.Ala276=)
|
rs224331
|
0.38490
|
NM_032043.3(BRIP1):c.*2090G>C
|
rs60657820
|
0.38290
|
NM_020754.4(ARHGAP31):c.1926+89T>A
|
rs12636976
|
0.38289
|
NM_182961.4(SYNE1):c.1351-24A>T
|
rs4331993
|
0.38135
|
NM_020639.3(RIPK4):c.1005G>T (p.Leu335=)
|
rs2277789
|
0.38050
|
NM_001113378.2(FANCI):c.3006+15A>C
|
rs2159081
|
0.37877
|
NM_000136.3(FANCC):c.521+109A>G
|
rs3737142
|
0.37815
|
NM_015425.6(POLR1A):c.2634+22T>C
|
rs2289239
|
0.37666
|
NM_004260.4(RECQL4):c.3393+8C>T
|
rs756627
|
0.37589
|
NM_004260.4(RECQL4):c.1621-15C>T
|
rs4244611
|
0.37577
|
NM_153717.3(EVC):c.1099-19T>C
|
rs899691
|
0.37351
|
NM_001113378.2(FANCI):c.545+19C>T
|
rs1981623
|
0.37220
|
NM_001113378.2(FANCI):c.545+30G>A
|
rs1981624
|
0.37206
|
NM_016111.4(TELO2):c.2415T>C (p.Ala805=)
|
rs3180228
|
0.37206
|
NM_001278689.2(EOGT):c.1084-19C>T
|
rs4855541
|
0.37167
|
NM_000900.5(MGP):c.*552A>T
|
rs1049897
|
0.36985
|
NM_000136.3(FANCC):c.*1871G>A
|
rs4647558
|
0.36840
|
NM_015425.6(POLR1A):c.4273-26A>C
|
rs2278536
|
0.36818
|
NM_004260.4(RECQL4):c.3014G>A (p.Arg1005Gln)
|
rs4251691
|
0.36660
|
NM_001378183.1(PIEZO2):c.7190+29A>G
|
rs11661737
|
0.36619
|
NM_005236.3(ERCC4):c.1905-35T>C
|
rs1799799
|
0.36580
|
NM_020639.3(RIPK4):c.*983G>A
|
rs3171532
|
0.36576
|
NM_004260.4(RECQL4):c.3502+24G>A
|
rs2279243
|
0.36505
|
NM_001378183.1(PIEZO2):c.6976-47G>C
|
rs868525
|
0.36451
|
NM_001378183.1(PIEZO2):c.7349+7C>T
|
rs3748422
|
0.36363
|
NM_020812.4(DOCK6):c.5361+4C>T
|
rs3745682
|
0.36094
|
NM_004260.4(RECQL4):c.738C>T (p.Ser246=)
|
rs4244613
|
0.36043
|
NM_006147.4(IRF6):c.459G>T (p.Ser153=)
|
rs2013162
|
0.35925
|
NM_004826.4(ECEL1):c.1507-30G>C
|
rs6750085
|
0.35871
|
NM_020812.4(DOCK6):c.3894+19G>A
|
rs4804150
|
0.35804
|
NM_004629.2(FANCG):c.1636+7A>G
|
rs587118
|
0.35683
|
NM_139284.3(LGI4):c.1203A>G (p.Thr401=)
|
rs1319969
|
0.35140
|
NM_001018115.3(FANCD2):c.4281+172G>A
|
rs7626117
|
0.35108
|
NM_000751.3(CHRND):c.*885T>C
|
rs1004175
|
0.34980
|
NM_001164508.2(NEB):c.7839G>C (p.Lys2613Asn)
|
rs13013209
|
0.34676
|
NM_139284.3(LGI4):c.*11G>A
|
rs11084800
|
0.34468
|
NM_139284.3(LGI4):c.1395G>A (p.Gln465=)
|
rs12610234
|
0.34308
|
NM_139284.3(LGI4):c.1396C>T (p.Leu466=)
|
rs12610146
|
0.34294
|
NM_139284.3(LGI4):c.834G>C (p.Pro278=)
|
rs1687998
|
0.34261
|
NM_000751.3(CHRND):c.*52A>G
|
rs2767
|
0.34088
|
NM_032043.3(BRIP1):c.*3488A>T
|
rs11079454
|
0.33474
|
NM_153717.3(EVC):c.939+4C>T
|
rs2286343
|
0.33466
|
NM_001982.4(ERBB3):c.3129+9A>C
|
rs2292238
|
0.33347
|
NM_002693.3(POLG):c.3105-11T>C
|
rs2302084
|
0.32855
|
NM_000900.5(MGP):c.-63G>A
|
rs1800801
|
0.32542
|
NM_001793.6(CDH3):c.1689G>C (p.Gln563His)
|
rs1126933
|
0.32131
|
NM_006147.4(IRF6):c.175-5C>G
|
rs7552506
|
0.32118
|
NM_001113378.2(FANCI):c.257C>T (p.Ala86Val)
|
rs17803620
|
0.31885
|
NM_139284.3(LGI4):c.459-33G>A
|
rs1688001
|
0.31837
|
NM_001164508.2(NEB):c.8734T>C (p.Ser2912Pro)
|
rs6713162
|
0.31314
|
NM_020436.5(SALL4):c.1860A>G (p.Thr620=)
|
rs6021437
|
0.31314
|
NM_001321120.2(TBX4):c.402-8G>A
|
rs758596
|
0.31194
|
NM_138959.3(VANGL1):c.*3496T>A
|
rs4839472
|
0.31126
|
NM_001278689.2(EOGT):c.465A>G (p.Arg155=)
|
rs6781612
|
0.31041
|
NM_002472.3(MYH8):c.-31G>A
|
rs2277648
|
0.30852
|
NM_007294.4(BRCA1):c.2082C>T (p.Ser694=)
|
rs1799949
|
0.30810
|
NM_001982.4(ERBB3):c.3348G>A (p.Arg1116=)
|
rs2271189
|
0.30797
|
NM_007294.4(BRCA1):c.3548A>G (p.Lys1183Arg)
|
rs16942
|
0.30784
|
NM_001018115.3(FANCD2):c.4281+685C>T
|
rs11716842
|
0.30572
|
NM_016653.3(MAP3K20):c.445-37A>G
|
rs2289399
|
0.30550
|
NM_001378183.1(PIEZO2):c.4135G>A (p.Val1379Ile)
|
rs7234309
|
0.30463
|
NM_020754.4(ARHGAP31):c.1070-92G>C
|
rs10511390
|
0.30391
|
NM_058216.3(RAD51C):c.904+34T>C
|
rs28363318
|
0.30375
|
NM_001164508.2(NEB):c.5370G>A (p.Glu1790=)
|
rs10170273
|
0.30371
|
NM_020436.5(SALL4):c.1056G>A (p.Ala352=)
|
rs13038893
|
0.29998
|
NM_001164508.2(NEB):c.6807+6T>G
|
rs10930723
|
0.29833
|
NM_002532.6(NUP88):c.468-38G>T
|
rs1806263
|
0.29804
|
NM_001164508.2(NEB):c.1675-67C>T
|
rs10193188
|
0.29744
|
NM_003334.4(UBA1):c.679-33C>G
|
rs4239963
|
0.29685
|
NM_001113378.2(FANCI):c.2225G>C (p.Cys742Ser)
|
rs2283432
|
0.29667
|
NM_020812.4(DOCK6):c.3507A>T (p.Leu1169=)
|
rs3810307
|
0.29532
|
NM_001164508.2(NEB):c.5763+35T>C
|
rs12620077
|
0.29408
|
NM_002465.4(MYBPC1):c.774C>T (p.Asp258=)
|
rs2293468
|
0.29320
|
NM_001378183.1(PIEZO2):c.7035G>A (p.Pro2345=)
|
rs2277860
|
0.29299
|
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_001164508.2(NEB):c.8160+84G>A
|
rs4664494
|
0.29054
|
NM_020436.5(SALL4):c.1520T>G (p.Leu507Arg)
|
rs6126344
|
0.29053
|
NM_007294.4(BRCA1):c.2311T>C (p.Leu771=)
|
rs16940
|
0.29035
|
NM_147127.5(EVC2):c.3507C>T (p.His1169=)
|
rs12511039
|
0.28547
|
NM_014875.3(KIF14):c.4897C>G (p.Pro1633Ala)
|
rs12120084
|
0.28388
|
NM_000059.4(BRCA2):c.3396A>G (p.Lys1132=)
|
rs1801406
|
0.28273
|
NM_173660.5(DOK7):c.332-18T>C
|
rs2699425
|
0.28202
|
NM_001378183.1(PIEZO2):c.1379-47T>C
|
rs56112279
|
0.27943
|
NM_001378183.1(PIEZO2):c.1528-41T>C
|
rs6505594
|
0.27928
|
NM_001164508.2(NEB):c.19314+42C>T
|
rs2288206
|
0.27894
|
NM_147127.5(EVC2):c.1437A>G (p.Glu479=)
|
rs13131655
|
0.27893
|
NM_001079520.2(DACT1):c.1280C>T (p.Ala427Val)
|
rs17832998
|
0.27873
|
NM_001999.4(FBN2):c.*733T>A
|
rs13305
|
0.27788
|
NM_014918.5(CHSY1):c.1905G>C (p.Val635=)
|
rs28364839
|
0.27694
|
NM_017988.6(SCYL2):c.2167C>T (p.Leu723=)
|
rs10860580
|
0.27673
|
NM_018124.4(RFWD3):c.1755-33G>A
|
rs11149759
|
0.27669
|
NM_000059.4(BRCA2):c.*369A>G
|
rs7334543
|
0.27664
|
NM_001378183.1(PIEZO2):c.7215C>T (p.Ala2405=)
|
rs3748421
|
0.27525
|
NM_002010.3(FGF9):c.381+17C>T
|
rs2274296
|
0.27243
|
NM_001164508.2(NEB):c.18366+78T>C
|
rs7602715
|
0.27138
|
NM_001003722.2(GLE1):c.1647-44A>G
|
rs3763600
|
0.26906
|
NM_001003722.2(GLE1):c.727A>G (p.Ile243Val)
|
rs2275260
|
0.26894
|
NM_182961.4(SYNE1):c.130-25C>T
|
rs2141152
|
0.26785
|
NM_004282.4(BAG2):c.*4531G>A
|
rs9382689
|
0.26771
|
NM_001278689.2(EOGT):c.210+5G>A
|
rs56761230
|
0.26744
|
NM_153717.3(EVC):c.1068A>G (p.Leu356=)
|
rs33929747
|
0.26691
|
NM_001378183.1(PIEZO2):c.5589C>T (p.Ser1863=)
|
rs7227022
|
0.26688
|
NM_001164508.2(NEB):c.5763+281G>A
|
rs12616767
|
0.26661
|
NM_001164508.2(NEB):c.16705-18C>T
|
rs61254943
|
0.26527
|
NM_001164508.2(NEB):c.16909-168C>T
|
rs3771901
|
0.26318
|
NM_004247.4(EFTUD2):c.994+6C>T
|
rs11654183
|
0.26275
|
NM_001999.4(FBN2):c.*1415G>A
|
rs1050687
|
0.26267
|
NM_001164508.2(NEB):c.10809G>C (p.Trp3603Cys)
|
rs10172023
|
0.26237
|
NM_001164508.2(NEB):c.24393+60A>C
|
rs10497081
|
0.26227
|
NM_182961.4(SYNE1):c.17346+7G>A
|
rs9383985
|
0.26223
|
NM_001164508.2(NEB):c.24874-47A>T
|
rs2288193
|
0.26026
|
NM_016653.3(MAP3K20):c.1032+39G>A
|
rs16861404
|
0.26026
|
NM_002010.3(FGF9):c.278-14C>T
|
rs3818460
|
0.25974
|
NM_001429.4(EP300):c.4618-18C>T
|
rs2076578
|
0.25729
|
NM_001378183.1(PIEZO2):c.7349+31A>C
|
rs3748423
|
0.25652
|
NM_001018115.3(FANCD2):c.3849+13A>G
|
rs9811771
|
0.25616
|
NM_001164508.2(NEB):c.25405-34T>C
|
rs16830090
|
0.25362
|
NM_138959.3(VANGL1):c.*416G>A
|
rs3811011
|
0.25321
|
NM_138959.3(VANGL1):c.*1277C>T
|
rs3204955
|
0.25318
|
NM_001018115.3(FANCD2):c.4281+197A>G
|
rs7647987
|
0.24912
|
NM_138959.3(VANGL1):c.*3023G>T
|
rs10923204
|
0.24904
|
NM_001018115.3(FANCD2):c.4281+566T>G
|
rs3826
|
0.24892
|
NM_001018115.3(FANCD2):c.4098T>G (p.Leu1366=)
|
rs2272125
|
0.24889
|
NM_001018115.3(FANCD2):c.4185+33T>C
|
rs2272124
|
0.24884
|
NM_001164508.2(NEB):c.17535+90A>G
|
rs3732312
|
0.24731
|
NM_001164508.2(NEB):c.18294T>C (p.Tyr6098=)
|
rs2288211
|
0.24726
|
NM_001164508.2(NEB):c.18156+222T>A
|
rs12052998
|
0.24703
|
NM_002653.5(PITX1):c.896G>C (p.Gly299Ala)
|
rs479632
|
0.24653
|
NM_005236.3(ERCC4):c.2505T>C (p.Ser835=)
|
rs1799801
|
0.24619
|
NM_001429.4(EP300):c.4452+20C>T
|
rs6002271
|
0.24366
|
NM_014918.5(CHSY1):c.303G>C (p.Arg101=)
|
rs7176149
|
0.24315
|
NM_138959.3(VANGL1):c.*6026G>A
|
rs6428677
|
0.24227
|
NM_032043.3(BRIP1):c.-31+12G>A
|
rs4988340
|
0.23980
|
NM_213674.1(TPM2):c.-137T>A
|
rs3793540
|
0.23673
|
NM_213674.1(TPM2):c.-136T>A
|
rs3793539
|
0.23669
|
NM_213674.1(TPM2):c.-135T>A
|
rs3793538
|
0.23661
|
NM_018486.3(HDAC8):c.159G>A (p.Gln53=)
|
rs11093377
|
0.23437
|
NM_013352.4(DSE):c.74C>T (p.Thr25Ile)
|
rs10485183
|
0.23388
|
NM_014918.5(CHSY1):c.57C>T (p.Gly19=)
|
rs7175303
|
0.23372
|
NM_001018115.3(FANCD2):c.784-19C>T
|
rs9879080
|
0.23357
|
NM_001018115.3(FANCD2):c.2976+36T>C
|
rs6805869
|
0.23353
|
NM_017988.6(SCYL2):c.177+35C>A
|
rs7965910
|
0.23219
|
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His)
|
rs144848
|
0.23116
|
NM_005236.3(ERCC4):c.207+11G>A
|
rs762521
|
0.22979
|
NM_017988.6(SCYL2):c.1096-23T>A
|
rs7968030
|
0.22967
|
NM_002010.3(FGF9):c.*1094C>T
|
rs3715
|
0.22949
|
NM_138959.3(VANGL1):c.*6199A>T
|
rs3811007
|
0.22923
|
NM_012243.3(SLC35A3):c.357A>G (p.Leu119=)
|
rs534252
|
0.22875
|
NM_001793.5(CDH3):c.-537A>G
|
rs11644435
|
0.22872
|
NM_005236.3(ERCC4):c.1905-28G>A
|
rs1799800
|
0.22729
|
NM_001018115.3(FANCD2):c.990-38C>G
|
rs9809061
|
0.22591
|
NM_016111.4(TELO2):c.2227-39C>T
|
rs3736721
|
0.22446
|
NM_001429.4(EP300):c.2989A>G (p.Ile997Val)
|
rs20551
|
0.22427
|
NM_005199.5(CHRNG):c.921-12C>T
|
rs13018423
|
0.22363
|
NM_139284.3(LGI4):c.*10C>T
|
rs3826989
|
0.22206
|
NM_002465.4(MYBPC1):c.1634-18del
|
rs3835190
|
0.22202
|
NM_032444.4(SLX4):c.753G>A (p.Ala251=)
|
rs8061528
|
0.21914
|
NM_001278689.2(EOGT):c.1084-14C>G
|
rs4855540
|
0.21801
|
NM_147127.5(EVC2):c.688A>G (p.Ser230Gly)
|
rs4689278
|
0.21710
|
NM_000059.4(BRCA2):c.-26G>A
|
rs1799943
|
0.20795
|
NM_173660.5(DOK7):c.1382G>A (p.Gly461Asp)
|
rs9684786
|
0.20663
|
NM_004247.4(EFTUD2):c.762T>C (p.Thr254=)
|
rs2289674
|
0.20662
|
NM_003722.5(TP63):c.*2345C>T
|
rs35592567
|
0.20615
|
NM_002010.3(FGF9):c.*2563G>C
|
rs7317625
|
0.20594
|
NM_032444.4(SLX4):c.3365C>T (p.Pro1122Leu)
|
rs714181
|
0.20566
|
NM_001003722.2(GLE1):c.*73G>A
|
rs10760563
|
0.20436
|
NM_002465.4(MYBPC1):c.2817A>G (p.Pro939=)
|
rs764291
|
0.20383
|
NM_001164508.2(NEB):c.4611+70T>C
|
rs58903550
|
0.20373
|
NM_002010.3(FGF9):c.*372A>T
|
rs546782
|
0.20354
|
NM_001164508.2(NEB):c.4435G>A (p.Val1479Ile)
|
rs34577613
|
0.20341
|
NM_001018115.3(FANCD2):c.695+16G>C
|
rs17032283
|
0.20237
|
NM_002465.4(MYBPC1):c.556+10C>G
|
rs61935677
|
0.20237
|
NM_001018115.3(FANCD2):c.439-16A>G
|
rs17032278
|
0.20185
|
NM_001378183.1(PIEZO2):c.2947-36G>A
|
rs7507093
|
0.20120
|
NM_001378183.1(PIEZO2):c.6031G>C (p.Glu2011Gln)
|
rs4796901
|
0.20035
|
NM_005199.5(CHRNG):c.507-13C>T
|
rs2853462
|
0.20012
|
NM_001164508.2(NEB):c.11289+99G>A
|
rs62174707
|
0.19979
|
NM_002968.3(SALL1):c.3456C>T (p.His1152=)
|
rs11645288
|
0.19907
|
NM_001018115.3(FANCD2):c.1122A>G (p.Val374=)
|
rs34046352
|
0.19892
|
NM_001018115.3(FANCD2):c.2270-28G>T
|
rs34608006
|
0.19876
|
NM_020937.4(FANCM):c.2632G>T (p.Val878Leu)
|
rs1367580
|
0.19378
|
NM_001018115.3(FANCD2):c.2141C>T (p.Pro714Leu)
|
rs3864017
|
0.19295
|
NM_032634.4(PIGO):c.2004G>A (p.Leu668=)
|
rs10814196
|
0.19210
|
NM_001164508.2(NEB):c.5031+48A>G
|
rs4664496
|
0.18844
|
NM_005199.5(CHRNG):c.*568C>T
|
rs72991939
|
0.18562
|
NM_000059.4(BRCA2):c.*532A>G
|
rs11571836
|
0.18537
|
NM_005199.5(CHRNG):c.*496A>G
|
rs72991937
|
0.18514
|
NM_173660.5(DOK7):c.1185C>T (p.Tyr395=)
|
rs6850908
|
0.18472
|
NM_000059.4(BRCA2):c.3807T>C (p.Val1269=)
|
rs543304
|
0.18381
|
NM_173660.5(DOK7):c.887A>G (p.Gln296Arg)
|
rs6811423
|
0.18249
|
NM_173660.5(DOK7):c.1113A>C (p.Ser371=)
|
rs6811856
|
0.18181
|
NM_001164508.2(NEB):c.8161-118A>T
|
rs35172004
|
0.18143
|
NM_147127.5(EVC2):c.52C>T (p.Leu18Phe)
|
rs6820907
|
0.17921
|
NM_022458.4(LMBR1):c.*383T>C
|
rs3487
|
0.17784
|
NM_005199.5(CHRNG):c.1422C>T (p.Arg474=)
|
rs2099489
|
0.17611
|
NM_173660.5(DOK7):c.1134G>A (p.Ala378=)
|
rs6831659
|
0.17563
|
NM_022458.4(LMBR1):c.*1325C>T
|
rs1053214
|
0.17503
|
NM_001164508.2(NEB):c.3879+20G>T
|
rs12618063
|
0.17493
|
NM_001164508.2(NEB):c.16911A>G (p.Pro5637=)
|
rs33988153
|
0.17490
|
NM_002472.3(MYH8):c.5208C>T (p.Asp1736=)
|
rs33969260
|
0.17467
|
NM_004629.2(FANCG):c.646+58C>T
|
rs17885726
|
0.17456
|
NM_003282.4(TNNI2):c.186+26G>A
|
rs2271441
|
0.17441
|
NM_138959.3(VANGL1):c.*83T>A
|
rs3811013
|
0.17099
|
NM_001999.4(FBN2):c.952+4177C>T
|
rs13180243
|
0.16937
|
NM_138959.3(VANGL1):c.*6212C>T
|
rs3811006
|
0.16816
|
NM_138959.3(VANGL1):c.*4504C>T
|
rs17034228
|
0.16812
|
NM_138959.3(VANGL1):c.*5266C>T
|
rs17034230
|
0.16811
|
NM_020937.4(FANCM):c.524C>T (p.Ser175Phe)
|
rs10138997
|
0.16789
|
NM_005592.4(MUSK):c.402G>A (p.Glu134=)
|
rs10980531
|
0.16445
|
NM_020639.3(RIPK4):c.35C>G (p.Ala12Gly)
|
rs6586239
|
0.15988
|
NM_004282.4(BAG2):c.*3998A>G
|
rs12211901
|
0.15833
|
NM_000059.4(BRCA2):c.-52A>G
|
rs206118
|
0.15771
|
NM_004380.3(CREBBP):c.3837-8C>T
|
rs3025684
|
0.15427
|
NM_001278689.2(EOGT):c.912T>C (p.Tyr304=)
|
rs13085120
|
0.15363
|
NM_020754.4(ARHGAP31):c.1701G>A (p.Pro567=)
|
rs2305249
|
0.15274
|
NM_000059.4(BRCA2):c.*105A>C
|
rs15869
|
0.15131
|
NM_004282.4(BAG2):c.*2941T>C
|
rs72868608
|
0.14761
|
NM_021922.3(FANCE):c.1504G>A (p.Ala502Thr)
|
rs9462088
|
0.14730
|
NM_002334.3(LRP4):c.-188C>T
|
rs111383894
|
0.14671
|
NM_021922.3(FANCE):c.1316+19G>A
|
rs6457823
|
0.14669
|
NM_002465.4(MYBPC1):c.1518C>G (p.His506Gln)
|
rs3817552
|
0.14585
|
NM_018062.4(FANCL):c.375-49C>G
|
rs1404459
|
0.14499
|
NM_001271938.2(MEGF8):c.2430T>C (p.Asn810=)
|
rs28621009
|
0.14431
|
NM_001999.4(FBN2):c.111G>A (p.Pro37=)
|
rs55715053
|
0.14249
|
NM_020639.3(RIPK4):c.159G>A (p.Ser53=)
|
rs6586238
|
0.14219
|
NM_002470.4(MYH3):c.3348T>C (p.Ile1116=)
|
rs201626
|
0.14064
|
NM_001999.4(FBN2):c.6511+15A>G
|
rs56131649
|
0.14023
|
NM_020639.3(RIPK4):c.360A>C (p.Arg120=)
|
rs13049286
|
0.13916
|
NM_020639.3(RIPK4):c.327T>C (p.Ala109=)
|
rs2277791
|
0.13904
|
NM_002465.4(MYBPC1):c.-75G>T
|
rs1697477
|
0.13668
|
NM_000141.5(FGFR2):c.-157A>G
|
rs41258305
|
0.13622
|
NM_001999.4(FBN2):c.*1277G>A
|
rs7288
|
0.13531
|
NM_018668.5(VPS33B):c.1105+9C>T
|
rs3826033
|
0.13431
|
NM_003334.4(UBA1):c.1340G>A (p.Arg447His)
|
rs2070169
|
0.13373
|
NM_001039523.2(CHRNA1):c.-478A>G
|
rs16862847
|
0.13301
|
NM_001999.4(FBN2):c.8274C>T (p.Ser2758=)
|
rs10070365
|
0.13267
|
NM_005592.4(MUSK):c.537C>T (p.Asn179=)
|
rs41279051
|
0.13243
|
NM_020754.4(ARHGAP31):c.2778G>A (p.Ala926=)
|
rs61740281
|
0.13242
|
NM_173660.5(DOK7):c.101-11G>A
|
rs2344209
|
0.13238
|
NM_022458.4(LMBR1):c.*2089G>A
|
rs17837686
|
0.13188
|
NM_006265.3(RAD21):c.1440T>C (p.Ala480=)
|
rs1050838
|
0.13137
|
NM_133433.4(NIPBL):c.5874C>T (p.Ser1958=)
|
rs61748200
|
0.13068
|
NM_001330677.2(TBX15):c.466C>A (p.His156Asn)
|
rs10494217
|
0.13004
|
NM_024675.4(PALB2):c.1676A>G (p.Gln559Arg)
|
rs152451
|
0.12980
|
NM_002334.4(LRP4):c.4905C>T (p.Phe1635=)
|
rs2290883
|
0.12958
|
NM_002334.4(LRP4):c.3608C>T (p.Ala1203Val)
|
rs2306033
|
0.12951
|
NM_002470.4(MYH3):c.349-36A>G
|
rs2285467
|
0.12931
|
NM_000135.4(FANCA):c.3654A>G (p.Pro1218=)
|
rs1800358
|
0.12784
|
NM_138959.3(VANGL1):c.346G>A (p.Ala116Thr)
|
rs4839469
|
0.12684
|
NM_004629.1(FANCG):c.-453_-452insT
|
rs16935545
|
0.12501
|
NM_001164508.2(NEB):c.7957-152C>T
|
rs28375835
|
0.12498
|
NM_006757.4(TNNT3):c.762C>T (p.Gly254=)
|
rs4727
|
0.12344
|
NM_017617.5(NOTCH1):c.852G>A (p.Pro284=)
|
rs2229975
|
0.12249
|
NM_005592.4(MUSK):c.475A>G (p.Ser159Gly)
|
rs35176182
|
0.12204
|
NM_133433.4(NIPBL):c.2021A>G (p.Asn674Ser)
|
rs3822471
|
0.12117
|
NM_133433.4(NIPBL):c.3575-17A>G
|
rs78827246
|
0.12109
|
NM_017617.5(NOTCH1):c.6180+44T>C
|
rs9632944
|
0.12085
|
NM_020754.4(ARHGAP31):c.3615C>T (p.Pro1205=)
|
rs3732414
|
0.11988
|
NM_000135.4(FANCA):c.1006+112G>A
|
rs17226075
|
0.11964
|
NM_000135.4(FANCA):c.1083+120G>A
|
rs17226159
|
0.11919
|
NM_016277.5(RAB23):c.619G>A (p.Gly207Ser)
|
rs1040461
|
0.11850
|
NM_000135.4(FANCA):c.2602-36G>T
|
rs2159116
|
0.11784
|
NM_001164508.2(NEB):c.12018+29G>A
|
rs11902616
|
0.11589
|
NM_006265.3(RAD21):c.688+8G>A
|
rs2921787
|
0.11506
|
NM_001378183.1(PIEZO2):c.6488C>A (p.Ala2163Asp)
|
rs113682091
|
0.11487
|
NM_017617.5(NOTCH1):c.2740+12C>T
|
rs36119806
|
0.11457
|
NM_005055.5(RAPSN):c.193-15C>T
|
rs45547231
|
0.11254
|
NM_147127.5(EVC2):c.2061T>C (p.Arg687=)
|
rs73198153
|
0.11242
|
NM_005445.4(SMC3):c.970-8G>A
|
rs11195199
|
0.11151
|
NM_005445.4(SMC3):c.1092-18T>C
|
rs11195200
|
0.11131
|
NM_000135.4(FANCA):c.3807G>C (p.Leu1269=)
|
rs11649210
|
0.11105
|
NM_001999.4(FBN2):c.6931A>G (p.Met2311Val)
|
rs32209
|
0.11103
|
NM_147127.5(EVC2):c.519+15G>A
|
rs17688121
|
0.11080
|
NM_153717.3(EVC):c.802-15del
|
rs369153323
|
0.10885
|
NM_001018115.3(FANCD2):c.1413+38A>C
|
rs7615646
|
0.10867
|
NM_138959.3(VANGL1):c.-224C>A
|
rs191609592
|
0.10807
|
NM_005055.5(RAPSN):c.855G>A (p.Gln285=)
|
rs45603036
|
0.10742
|
NM_005055.5(RAPSN):c.*57C>T
|
rs45617144
|
0.10726
|
NM_014918.5(CHSY1):c.2114G>A (p.Arg705Gln)
|
rs62621399
|
0.10677
|
NM_138959.3(VANGL1):c.*6721A>G
|
rs17034249
|
0.10611
|
NM_138959.3(VANGL1):c.*2581G>A
|
rs3811008
|
0.10587
|
NM_001999.4(FBN2):c.183C>G (p.Pro61=)
|
rs73348287
|
0.10581
|
NM_001361.5(DHODH):c.*569G>A
|
rs113365769
|
0.10579
|
NM_000141.5(FGFR2):c.557T>C (p.Met186Thr)
|
rs755793
|
0.10553
|
NM_002693.3(POLG):c.3643+258A>G
|
rs1860021
|
0.10541
|
NM_022458.4(LMBR1):c.1092C>T (p.Val364=)
|
rs59912051
|
0.10405
|
NM_000113.3(TOR1A):c.646G>C (p.Asp216His)
|
rs1801968
|
0.10301
|
NM_000557.5(GDF5):c.1017= (p.Lys339=)
|
rs224330
|
0.10244
|
NM_001164508.2(NEB):c.2944-9G>A
|
rs13427102
|
0.10205
|
NM_153717.3(EVC):c.249A>G (p.Ser83=)
|
rs35870680
|
0.09998
|
NM_014918.5(CHSY1):c.1075C>T (p.Pro359Ser)
|
rs3743193
|
0.09931
|
NM_001330677.2(TBX15):c.1710C>T (p.Ser570=)
|
rs12569041
|
0.09675
|
NM_001164508.2(NEB):c.6184-14T>A
|
rs10173335
|
0.09664
|
NM_005592.4(MUSK):c.1239G>A (p.Met413Ile)
|
rs2274419
|
0.09566
|
NM_000557.5(GDF5):c.*335A>C
|
rs73611720
|
0.09512
|
NM_001999.4(FBN2):c.5823T>C (p.His1941=)
|
rs11955288
|
0.09446
|
NM_182961.4(SYNE1):c.17202+24G>A
|
rs12662994
|
0.09437
|
NM_018668.5(VPS33B):c.151C>A (p.Arg51=)
|
rs11542638
|
0.09422
|
NM_032444.4(SLX4):c.-359C>G
|
rs57910835
|
0.09336
|
NM_003722.5(TP63):c.*541G>A
|
rs73199799
|
0.09298
|
NM_020436.5(SALL4):c.2640G>C (p.Ser880=)
|
rs17802735
|
0.09099
|
NM_002465.4(MYBPC1):c.1386A>T (p.Thr462=)
|
rs825045
|
0.08992
|
NM_018684.4(ZC4H2):c.432A>G (p.Thr144=)
|
rs6524946
|
0.08938
|
NM_021922.3(FANCE):c.*216del
|
rs45584740
|
0.08934
|
NM_002334.4(LRP4):c.1309+24G>A
|
rs3751097
|
0.08895
|
NM_000079.4(CHRNA1):c.960C>T (p.His320=)
|
rs2229957
|
0.08849
|
NM_001018115.3(FANCD2):c.4281+673G>A
|
rs9862958
|
0.08846
|
NM_005055.5(RAPSN):c.172C>T (p.Arg58Cys)
|
rs34312154
|
0.08810
|
NM_020937.4(FANCM):c.5434C>G (p.Pro1812Ala)
|
rs3736772
|
0.08766
|
NM_003334.4(UBA1):c.2220G>A (p.Pro740=)
|
rs2230147
|
0.08755
|
NM_003334.4(UBA1):c.1742-11G>C
|
rs5953010
|
0.08744
|
NM_032444.4(SLX4):c.1366+11T>C
|
rs76350200
|
0.08654
|
NM_004380.3(CREBBP):c.939T>C (p.Asp313=)
|
rs3025702
|
0.08570
|
NM_001271938.2(MEGF8):c.5272A>G (p.Lys1758Glu)
|
rs1206038
|
0.08528
|
NM_147127.5(EVC2):c.2235A>G (p.Glu745=)
|
rs60121553
|
0.08440
|
NM_022458.4(LMBR1):c.*89A>T
|
rs3735186
|
0.08395
|
NM_020754.4(ARHGAP31):c.-38C>A
|
rs72960626
|
0.08337
|
NM_032444.4(SLX4):c.*8A>G
|
rs3751839
|
0.08334
|
NM_001271938.2(MEGF8):c.1934-7T>C
|
rs1206044
|
0.08176
|
NM_017617.5(NOTCH1):c.3171+42G>A
|
rs11145765
|
0.08084
|
NM_004380.3(CREBBP):c.1676+18A>T
|
rs130018
|
0.08039
|
NM_020436.5(SALL4):c.2392A>C (p.Ile798Leu)
|
rs6091375
|
0.08032
|
NM_020937.4(FANCM):c.4378A>G (p.Ile1460Val)
|
rs78211950
|
0.08024
|
NM_032444.4(SLX4):c.-295A>G
|
rs59311338
|
0.07951
|
NM_032444.4(SLX4):c.2854G>A (p.Ala952Thr)
|
rs59939128
|
0.07918
|
NM_153717.3(EVC):c.221A>C (p.Gln74Pro)
|
rs2291157
|
0.07908
|
NM_004629.1(FANCG):c.-490G>T
|
rs10972303
|
0.07883
|
NM_181486.4(TBX5):c.*77A>G
|
rs28730761
|
0.07861
|
NM_001999.4(FBN2):c.4718-13T>C
|
rs10044959
|
0.07765
|
NM_022458.4(LMBR1):c.682A>G (p.Thr228Ala)
|
rs6957768
|
0.07428
|
NM_147127.5(EVC2):c.1711-20T>G
|
rs58869180
|
0.07408
|
NM_032444.4(SLX4):c.2012T>C (p.Leu671Ser)
|
rs77985244
|
0.07388
|
NM_000751.3(CHRND):c.1047+9T>C
|
rs3762528
|
0.07349
|
NM_020436.5(SALL4):c.2037C>T (p.Thr679=)
|
rs13043248
|
0.07305
|
NM_001113378.2(FANCI):c.2367G>T (p.Ala789=)
|
rs11857960
|
0.07285
|
NM_001113378.2(FANCI):c.2629A>T (p.Ile877Leu)
|
rs35875311
|
0.07245
|
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln)
|
rs35953626
|
0.07232
|
NM_147127.5(EVC2):c.-15G>A
|
rs76269601
|
0.07112
|
NM_032444.4(SLX4):c.610C>T (p.Arg204Cys)
|
rs79842542
|
0.07023
|
NM_001429.4(EP300):c.4026-17C>A
|
rs2294976
|
0.07014
|
NM_001999.4(FBN2):c.7739C>T (p.Ser2580Leu)
|
rs2291628
|
0.07011
|
NM_001999.4(FBN2):c.7013-5T>C
|
rs28763927
|
0.06995
|
NM_000135.4(FANCA):c.1143G>T (p.Thr381=)
|
rs1800331
|
0.06866
|
NM_147127.5(EVC2):c.2046+5A>G
|
rs6850875
|
0.06860
|
NM_002968.3(SALL1):c.475A>G (p.Ser159Gly)
|
rs13336129
|
0.06797
|
NM_020754.4(ARHGAP31):c.540-6C>T
|
rs16829782
|
0.06792
|
NM_020754.4(ARHGAP31):c.432-100T>A
|
rs73187863
|
0.06662
|
NM_000751.3(CHRND):c.*424C>T
|
rs4973046
|
0.06579
|
NM_022458.4(LMBR1):c.*1785dup
|
rs35765850
|
0.06506
|
NM_018062.4(FANCL):c.217-11T>C
|
rs79588315
|
0.06493
|
NM_000135.4(FANCA):c.17T>A (p.Val6Asp)
|
rs1800282
|
0.06490
|
NM_153717.3(EVC):c.1115C>T (p.Thr372Met)
|
rs28483498
|
0.06438
|
NM_032444.4(SLX4):c.1371T>G (p.Asn457Lys)
|
rs74319927
|
0.06397
|
NM_005236.3(ERCC4):c.1984T>C (p.Ser662Pro)
|
rs2020955
|
0.06391
|
NM_032444.4(SLX4):c.1152A>G (p.Pro384=)
|
rs112511042
|
0.06386
|
NM_032444.4(SLX4):c.1156A>G (p.Met386Val)
|
rs113490934
|
0.06384
|
NM_032444.4(SLX4):c.2013+23G>A
|
rs112226642
|
0.06373
|
NM_004629.2(FANCG):c.-392A>G
|
rs10972302
|
0.06369
|
NM_032444.4(SLX4):c.2160+50C>T
|
rs75762935
|
0.06369
|
NM_017617.5(NOTCH1):c.5639-12C>T
|
rs11574908
|
0.06332
|
NM_173660.5(DOK7):c.1243C>T (p.Pro415Ser)
|
rs16844464
|
0.06297
|
NM_002693.3(POLG):c.3708G>T (p.Gln1236His)
|
rs3087374
|
0.06272
|
NM_138959.3(VANGL1):c.*3417C>T
|
rs76160883
|
0.06248
|
NM_138959.3(VANGL1):c.*2489C>T
|
rs41299571
|
0.06245
|
NM_003289.4(TPM2):c.*8G>A
|
rs56249943
|
0.06243
|
NM_138959.3(VANGL1):c.*6321T>G
|
rs77318780
|
0.06169
|
NM_005445.4(SMC3):c.351-9T>C
|
rs78663177
|
0.06159
|
NM_005445.4(SMC3):c.1365T>C (p.Tyr455=)
|
rs75323904
|
0.06157
|
NM_000135.4(FANCA):c.894-8A>G
|
rs11648881
|
0.06110
|
NM_002470.4(MYH3):c.2106C>T (p.Gly702=)
|
rs56259391
|
0.05968
|
NM_002470.4(MYH3):c.2610A>G (p.Lys870=)
|
rs56163389
|
0.05967
|
NM_032043.3(BRIP1):c.*2241T>C
|
rs76889595
|
0.05966
|
NM_153717.3(EVC):c.341C>T (p.Ala114Val)
|
rs16837598
|
0.05943
|
NM_000135.4(FANCA):c.1927C>G (p.Pro643Ala)
|
rs17232910
|
0.05919
|
NM_000135.4(FANCA):c.1777-29T>C
|
rs2302162
|
0.05904
|
NM_017837.4(PIGV):c.-338A>C
|
rs113400508
|
0.05897
|
NM_000135.4(FANCA):c.2779-7T>C
|
rs17233253
|
0.05872
|
NM_000135.4(FANCA):c.2901C>T (p.Ser967=)
|
rs17226980
|
0.05869
|
NM_000135.4(FANCA):c.3982A>G (p.Thr1328Ala)
|
rs9282681
|
0.05868
|
NM_000135.4(FANCA):c.3408+45G>A
|
rs1800355
|
0.05862
|
NM_000135.4(FANCA):c.3067-4T>C
|
rs17227064
|
0.05860
|
NM_000135.4(FANCA):c.3067-23G>A
|
rs17227057
|
0.05859
|
NM_000135.4(FANCA):c.3765+37G>A
|
rs34420680
|
0.05858
|
NM_000135.4(FANCA):c.2602-46T>A
|
rs11076620
|
0.05847
|
NM_000135.4(FANCA):c.1235C>T (p.Ala412Val)
|
rs11646374
|
0.05837
|
NM_138959.3(VANGL1):c.*300C>T
|
rs41310108
|
0.05806
|
NM_138959.3(VANGL1):c.*217C>T
|
rs41299565
|
0.05793
|
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn)
|
rs4986850
|
0.05782
|
NM_018668.5(VPS33B):c.1656A>T (p.Thr552=)
|
rs16945153
|
0.05737
|
NM_138959.3(VANGL1):c.*694C>A
|
rs41312690
|
0.05722
|
NM_017837.4(PIGV):c.*210A>G
|
rs57189461
|
0.05712
|
NM_021922.3(FANCE):c.*151A>G
|
rs16876572
|
0.05645
|
NM_014918.5(CHSY1):c.1302C>T (p.Tyr434=)
|
rs2005180
|
0.05576
|
NM_002334.4(LRP4):c.941T>C (p.Leu314Ser)
|
rs7926667
|
0.05542
|
NM_002334.4(LRP4):c.1695G>A (p.Glu565=)
|
rs61741501
|
0.05533
|
NM_001003722.2(GLE1):c.*181C>A
|
rs10513496
|
0.05473
|
NM_001018113.3(FANCB):c.1004G>A (p.Gly335Glu)
|
rs41309679
|
0.05446
|
NM_020754.4(ARHGAP31):c.881+7G>A
|
rs78837524
|
0.05414
|
NM_003722.5(TP63):c.*45C>T
|
rs34057105
|
0.05395
|
NM_005236.3(ERCC4):c.1244G>A (p.Arg415Gln)
|
rs1800067
|
0.05364
|
NM_013352.4(DSE):c.1142T>C (p.Val381Ala)
|
rs41313440
|
0.05356
|
NM_170707.4(LMNA):c.810+13G>T
|
rs11264444
|
0.05317
|
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe)
|
rs17233497
|
0.05303
|
NM_002334.4(LRP4):c.813G>A (p.Thr271=)
|
rs879721
|
0.05245
|
NM_147127.5(EVC2):c.3253C>T (p.Leu1085=)
|
rs112554914
|
0.05240
|
NM_018486.3(HDAC8):c.438-15C>T
|
rs72630048
|
0.05226
|
NM_000135.4(FANCA):c.427-25T>A
|
rs9282685
|
0.05123
|
NM_002472.3(MYH8):c.1907C>T (p.Ala636Val)
|
rs34693726
|
0.05120
|
NM_003722.5(TP63):c.*2216G>A
|
rs35861864
|
0.05107
|
NM_002968.3(SALL1):c.2343G>C (p.Leu781=)
|
rs60270998
|
0.05087
|
NM_001999.4(FBN2):c.5675-9del
|
rs112666443
|
0.05000
|
NM_002472.3(MYH8):c.2016C>T (p.Phe672=)
|
rs12936716
|
0.05000
|
NM_024675.4(PALB2):c.-47G>A
|
rs8053188
|
0.04991
|
NM_032444.4(SLX4):c.*113C>T
|
rs76661336
|
0.04982
|
NM_000135.4(FANCA):c.542C>T (p.Ala181Val)
|
rs17232246
|
0.04972
|
NM_000557.5(GDF5):c.*425T>C
|
rs56366915
|
0.04970
|
NM_032444.4(SLX4):c.555C>T (p.Asp185=)
|
rs74640850
|
0.04956
|
NM_001346754.2(PIGW):c.376A>G (p.Asn126Asp)
|
rs72818370
|
0.04955
|
NM_032444.4(SLX4):c.*1004A>G
|
rs75773027
|
0.04949
|
NM_032444.4(SLX4):c.*721T>C
|
rs75146816
|
0.04948
|
NM_005431.2(XRCC2):c.563G>A (p.Arg188His)
|
rs3218536
|
0.04933
|
NM_032444.4(SLX4):c.2855C>T (p.Ala952Val)
|
rs78637028
|
0.04932
|
NM_032444.4(SLX4):c.3662C>T (p.Ala1221Val)
|
rs3827530
|
0.04930
|
NM_032444.4(SLX4):c.678C>T (p.His226=)
|
rs28516461
|
0.04916
|
NM_001164508.2(NEB):c.5971C>T (p.His1991Tyr)
|
rs75807392
|
0.04908
|
NM_001793.6(CDH3):c.1430G>A (p.Arg477His)
|
rs34494880
|
0.04895
|
NM_022458.4(LMBR1):c.*1444T>G
|
rs17837687
|
0.04775
|
NM_002334.3(LRP4):c.-237G>C
|
rs565737367
|
0.04762
|
NM_001374353.1(GLI2):c.2889C>T (p.Ser963=)
|
rs146811565
|
0.04735
|
NM_005592.4(MUSK):c.207-20T>C
|
rs71501643
|
0.04718
|
NM_032444.4(SLX4):c.3812C>T (p.Ser1271Phe)
|
rs3810813
|
0.04718
|
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg)
|
rs1799950
|
0.04695
|
NM_003722.5(TP63):c.*435C>T
|
rs78233713
|
0.04622
|
NM_001113378.2(FANCI):c.164C>T (p.Pro55Leu)
|
rs62020347
|
0.04602
|
NM_013352.4(DSE):c.1926= (p.Asn642=)
|
rs560644
|
0.04562
|
NM_173660.5(DOK7):c.753G>A (p.Ala251=)
|
rs59932476
|
0.04559
|
NM_001003722.2(GLE1):c.99+29C>G
|
rs56164320
|
0.04523
|
NM_001999.4(FBN2):c.6292+12C>A
|
rs10042349
|
0.04495
|
NM_001361.5(DHODH):c.*595C>T
|
rs111810095
|
0.04483
|
NM_001271938.2(MEGF8):c.4065T>C (p.Val1355=)
|
rs61995685
|
0.04463
|
NM_001271938.2(MEGF8):c.3450C>T (p.Pro1150=)
|
rs149155949
|
0.04455
|
NM_000192.3(TBX5):c.-648C>G
|
rs79465718
|
0.04439
|
NM_002334.4(LRP4):c.129C>G (p.Thr43=)
|
rs61742974
|
0.04439
|
NM_000192.3(TBX5):c.-305C>A
|
rs78462880
|
0.04438
|
NM_000135.4(FANCA):c.24C>G (p.Asn8Lys)
|
rs76275444
|
0.04436
|
NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp)
|
rs1799944
|
0.04357
|
NM_001113525.2(ZNF276):c.1475-191C>T
|
rs16966023
|
0.04351
|
NM_001361.5(DHODH):c.*612T>C
|
rs7191724
|
0.04342
|
NM_181486.4(TBX5):c.309C>T (p.Leu103=)
|
rs28730763
|
0.04319
|
NM_014918.5(CHSY1):c.1763G>C (p.Arg588Thr)
|
rs62621400
|
0.04196
|
NM_001113378.2(FANCI):c.2547A>G (p.Lys849=)
|
rs7183618
|
0.04152
|
NM_002968.3(SALL1):c.2310C>T (p.Ile770=)
|
rs61740811
|
0.04143
|
NM_013352.4(DSE):c.101C>T (p.Pro34Leu)
|
rs35548455
|
0.04141
|
NM_001429.4(EP300):c.2380-15T>C
|
rs17002316
|
0.04125
|
NM_001429.4(EP300):c.95-16T>C
|
rs5758235
|
0.04095
|
NM_001429.4(EP300):c.1168+18G>A
|
rs3818120
|
0.04073
|
NM_001429.4(EP300):c.3348G>A (p.Gln1116=)
|
rs20554
|
0.04022
|
NM_000192.3(TBX5):c.-39+12C>A
|
rs11837917
|
0.04016
|
NM_006757.4(TNNT3):c.636T>C (p.Ile212=)
|
rs16927166
|
0.03978
|
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val)
|
rs1801426
|
0.03864
|
NM_022725.4(FANCF):c.*1629C>T
|
rs10500938
|
0.03856
|
NM_003334.4(UBA1):c.1742-18G>A
|
rs5953009
|
0.03846
|
NM_012243.3(SLC35A3):c.-19+415A>G
|
rs11166383
|
0.03792
|
NM_006147.4(IRF6):c.-75-4A>G
|
rs2235377
|
0.03786
|
NM_021922.3(FANCE):c.611C>T (p.Ser204Leu)
|
rs7761870
|
0.03770
|
NM_006147.4(IRF6):c.820G>A (p.Val274Ile)
|
rs2235371
|
0.03768
|
NM_032043.3(BRIP1):c.*1374T>C
|
rs59115933
|
0.03738
|
NM_002465.4(MYBPC1):c.3492+39C>T
|
rs35621105
|
0.03732
|
NM_022458.4(LMBR1):c.*1971A>T
|
rs12530942
|
0.03709
|
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_000059.4(BRCA2):c.1365A>G (p.Ser455=)
|
rs1801439
|
0.03688
|
NM_032043.3(BRIP1):c.*4000T>C
|
rs8077553
|
0.03559
|
NM_133433.4(NIPBL):c.2469A>G (p.Lys823=)
|
rs293756
|
0.03533
|
NM_133433.4(NIPBL):c.3015A>G (p.Leu1005=)
|
rs1669445
|
0.03530
|
NM_001999.4(FBN2):c.*819A>G
|
rs72783099
|
0.03528
|
NM_012243.3(SLC35A3):c.22G>A (p.Val8Ile)
|
rs74102304
|
0.03461
|
NM_000136.3(FANCC):c.*116A>C
|
rs7048910
|
0.03439
|
NM_001113525.2(ZNF276):c.1574+23T>C
|
rs62704561
|
0.03426
|
NM_032444.4(SLX4):c.3162G>A (p.Ser1054=)
|
rs76488917
|
0.03405
|
NM_001018115.3(FANCD2):c.2269+37A>G
|
rs34323624
|
0.03335
|
NM_001271938.2(MEGF8):c.4020C>T (p.Tyr1340=)
|
rs35473255
|
0.03322
|
NM_004282.4(BAG2):c.*3846C>T
|
rs62415930
|
0.03322
|
NM_001999.4(FBN2):c.203C>T (p.Ala68Val)
|
rs62390671
|
0.03303
|
NM_000135.4(FANCA):c.1941G>A (p.Glu647=)
|
rs17232917
|
0.03300
|
NM_001113378.2(FANCI):c.1294-8C>T
|
rs16942931
|
0.03299
|
NM_001271938.2(MEGF8):c.5475G>A (p.Leu1825=)
|
rs116630802
|
0.03297
|
NM_001113525.2(ZNF276):c.*103C>G
|
rs17233797
|
0.03296
|
NM_001113378.2(FANCI):c.2028C>T (p.Ala676=)
|
rs16942969
|
0.03295
|
NM_004629.2(FANCG):c.1133C>T (p.Ser378Leu)
|
rs4986939
|
0.03269
|
NM_153717.3(EVC):c.1096C>T (p.Leu366=)
|
rs6854138
|
0.03243
|
NM_000751.3(CHRND):c.120G>A (p.Lys40=)
|
rs55921262
|
0.03225
|
NM_001018115.3(FANCD2):c.2712C>T (p.Asn904=)
|
rs35594075
|
0.03203
|
NM_002010.3(FGF9):c.*496C>T
|
rs9509843
|
0.03191
|
NM_002334.4(LRP4):c.1501A>C (p.Asn501His)
|
rs72897663
|
0.03190
|
NM_013352.4(DSE):c.53G>T (p.Cys18Phe)
|
rs76186865
|
0.03160
|
NM_020937.4(FANCM):c.2670T>C (p.Phe890=)
|
rs8017226
|
0.03114
|
NM_001018115.3(FANCD2):c.571-31G>A
|
rs35749514
|
0.03113
|
NM_032043.3(BRIP1):c.94-18T>G
|
rs2138005
|
0.03086
|
NM_000557.5(GDF5):c.497C>A (p.Pro166His)
|
rs61754581
|
0.03081
|
NM_147127.5(EVC2):c.3023C>T (p.Ser1008Leu)
|
rs60809236
|
0.03040
|
NM_020937.4(FANCM):c.6141T>C (p.Asp2047=)
|
rs8018014
|
0.03012
|
NM_001018115.3(FANCD2):c.1509C>T (p.Asn503=)
|
rs6785756
|
0.03005
|
NM_022458.4(LMBR1):c.357T>C (p.Cys119=)
|
rs112583005
|
0.03004
|
NM_000135.4(FANCA):c.1360-7C>T
|
rs17232616
|
0.03003
|
NM_004629.2(FANCG):c.890C>T (p.Thr297Ile)
|
rs2237857
|
0.02968
|
NM_001113525.2(ZNF276):c.1815G>C (p.Glu605Asp)
|
rs17227424
|
0.02929
|
NM_001018115.3(FANCD2):c.1367T>G (p.Leu456Arg)
|
rs35782247
|
0.02918
|
NM_003722.5(TP63):c.*638C>G
|
rs6444406
|
0.02897
|
NM_001374353.1(GLI2):c.3831G>A (p.Thr1277=)
|
rs115052795
|
0.02871
|
NM_017617.5(NOTCH1):c.7233A>G (p.Pro2411=)
|
rs11574911
|
0.02871
|
NM_001793.6(CDH3):c.1257G>A (p.Lys419=)
|
rs11860187
|
0.02870
|
NM_001330677.2(TBX15):c.1477C>G (p.Pro493Ala)
|
rs17022678
|
0.02867
|
NM_000141.5(FGFR2):c.-318G>C
|
rs41301547
|
0.02864
|
NM_000135.4(FANCA):c.3348+18A>G
|
rs1800347
|
0.02828
|
NM_005105.5(RBM8A):c.479+15G>A
|
rs114923929
|
0.02823
|
NM_013352.4(DSE):c.844A>G (p.Ile282Val)
|
rs34994230
|
0.02817
|
NM_002334.4(LRP4):c.4837+10C>T
|
rs74806847
|
0.02807
|
NM_153717.3(EVC):c.939+11G>T
|
rs55955937
|
0.02788
|
NM_001018115.3(FANCD2):c.2124T>C (p.Phe708=)
|
rs9809716
|
0.02768
|
NM_000136.3(FANCC):c.*2552T>C
|
rs9673
|
0.02750
|
NM_138959.3(VANGL1):c.*2043C>T
|
rs74117021
|
0.02749
|
NM_018668.5(VPS33B):c.609A>G (p.Ala203=)
|
rs76867988
|
0.02746
|
NM_014918.5(CHSY1):c.1473A>G (p.Gln491=)
|
rs76457230
|
0.02740
|
NM_022458.4(LMBR1):c.*91C>T
|
rs75853117
|
0.02727
|
NM_032634.4(PIGO):c.3114C>T (p.Leu1038=)
|
rs2298314
|
0.02715
|
NM_147127.5(EVC2):c.1059C>T (p.Gly353=)
|
rs77793386
|
0.02666
|
NM_001018115.3(FANCD2):c.64+12G>C
|
rs9833228
|
0.02661
|
NM_000751.3(CHRND):c.*1025A>G
|
rs115132742
|
0.02647
|
NM_005199.5(CHRNG):c.445G>A (p.Ala149Thr)
|
rs2289080
|
0.02629
|
NM_001271938.2(MEGF8):c.1933+13A>G
|
rs139484187
|
0.02617
|
NM_001374353.1(GLI2):c.2997C>T (p.Asp999=)
|
rs140479803
|
0.02616
|
NM_001999.4(FBN2):c.-435C>T
|
rs78230270
|
0.02535
|
NM_024675.4(PALB2):c.3300T>G (p.Thr1100=)
|
rs45516100
|
0.02529
|
NM_000135.4(FANCA):c.3859G>A (p.Val1287Ile)
|
rs17227354
|
0.02526
|
NM_001999.4(FBN2):c.8733C>G (p.Leu2911=)
|
rs34383505
|
0.02500
|
NM_182895.5(SCARF2):c.1967C>T (p.Pro656Leu)
|
rs9680797
|
0.02487
|
NM_004380.3(CREBBP):c.6711C>T (p.Pro2237=)
|
rs3751845
|
0.02471
|
NM_001018113.3(FANCB):c.*14T>C
|
rs2375726
|
0.02466
|
NM_001018115.3(FANCD2):c.1868A>C (p.Gln623Pro)
|
rs36070315
|
0.02463
|
NM_002470.4(MYH3):c.5457+3G>A
|
rs200954595
|
0.02449
|
NM_001999.4(FBN2):c.4098A>C (p.Thr1366=)
|
rs28763943
|
0.02427
|
NM_001429.4(EP300):c.6668A>C (p.Gln2223Pro)
|
rs1046088
|
0.02418
|
NM_133433.4(NIPBL):c.4561-16C>T
|
rs115403650
|
0.02404
|
NM_001429.4(EP300):c.2131+18T>A
|
rs9611506
|
0.02398
|
NM_000136.3(FANCC):c.408A>G (p.Gln136=)
|
rs1800360
|
0.02397
|
NM_021922.3(FANCE):c.1071C>T (p.Leu357=)
|
rs3823434
|
0.02388
|
NM_001271938.2(MEGF8):c.6576G>A (p.Thr2192=)
|
rs10425783
|
0.02385
|
NM_020436.5(SALL4):c.2182G>C (p.Ala728Pro)
|
rs61737142
|
0.02370
|
NM_001113378.2(FANCI):c.3816+15A>T
|
rs28493988
|
0.02368
|
NM_173660.5(DOK7):c.589G>A (p.Asp197Asn)
|
rs16844422
|
0.02362
|
NM_005592.4(MUSK):c.225C>T (p.Tyr75=)
|
rs56130155
|
0.02312
|
NM_001374353.1(GLI2):c.1893C>T (p.Thr631=)
|
rs13008360
|
0.02306
|
NM_032444.4(SLX4):c.3783G>A (p.Pro1261=)
|
rs77699867
|
0.02290
|
NM_001018115.3(FANCD2):c.2702G>T (p.Gly901Val)
|
rs35495399
|
0.02285
|
NM_032444.4(SLX4):c.4581G>A (p.Pro1527=)
|
rs78635099
|
0.02283
|
NM_001113525.2(ZNF276):c.*68C>T
|
rs17227417
|
0.02259
|
NM_000136.3(FANCC):c.1345G>A (p.Val449Met)
|
rs1800367
|
0.02254
|
NM_000141.5(FGFR2):c.1941C>T (p.Leu647=)
|
rs35337478
|
0.02240
|
NM_000135.4(FANCA):c.2151G>T (p.Met717Ile)
|
rs1131660
|
0.02234
|
NM_020436.5(SALL4):c.645C>G (p.Leu215=)
|
rs61737139
|
0.02226
|
NM_020812.4(DOCK6):c.4895C>T (p.Ala1632Val)
|
rs117328686
|
0.02223
|
NM_002470.4(MYH3):c.6T>C (p.Ser2=)
|
rs17817203
|
0.02219
|
NM_001361.5(DHODH):c.1022C>T (p.Ala341Val)
|
rs61733129
|
0.02206
|
NM_002470.4(MYH3):c.3008C>T (p.Ala1003Val)
|
rs34088014
|
0.02195
|
NM_020937.4(FANCM):c.3758A>G (p.Asn1253Ser)
|
rs45604036
|
0.02192
|
NM_005592.4(MUSK):c.299C>T (p.Thr100Met)
|
rs35142681
|
0.02176
|
NM_002470.4(MYH3):c.4155A>G (p.Glu1385=)
|
rs58343499
|
0.02173
|
NM_020937.4(FANCM):c.5627A>G (p.Asn1876Ser)
|
rs45557033
|
0.02173
|
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln)
|
rs45532440
|
0.02171
|
NM_022458.4(LMBR1):c.*2603A>G
|
rs1014236
|
0.02144
|
NM_000557.5(GDF5):c.*193G>T
|
rs114832948
|
0.02139
|
NM_002470.4(MYH3):c.3938C>T (p.Thr1313Ile)
|
rs35230241
|
0.02138
|
NM_005199.5(CHRNG):c.*77T>C
|
rs11690038
|
0.02138
|
NM_147127.5(EVC2):c.3557+10G>A
|
rs116218656
|
0.02138
|
NM_002334.4(LRP4):c.3945G>A (p.Ser1315=)
|
rs61733844
|
0.02133
|
NM_006147.4(IRF6):c.1153T>C (p.Leu385=)
|
rs61099902
|
0.02121
|
NM_001278689.2(EOGT):c.1213A>G (p.Arg405Gly)
|
rs35545453
|
0.02119
|
NM_133433.4(NIPBL):c.4421+7A>G
|
rs76297333
|
0.02109
|
NM_000557.5(GDF5):c.-135G>A
|
rs73094730
|
0.02106
|
NM_133433.4(NIPBL):c.4561-9T>A
|
rs79924167
|
0.02103
|
NM_003289.4(TPM2):c.773-4_773-3insA
|
rs1554658501
|
0.02101
|
NM_024675.4(PALB2):c.629C>T (p.Pro210Leu)
|
rs57605939
|
0.02101
|
NM_002472.3(MYH8):c.1701G>A (p.Gln567=)
|
rs73275411
|
0.02065
|
NM_000079.4(CHRNA1):c.1073A>T (p.Asp358Val)
|
rs6739001
|
0.02064
|
NM_001429.4(EP300):c.5061+9C>T
|
rs73176628
|
0.02054
|
NM_004380.3(CREBBP):c.3900C>A (p.Ile1300=)
|
rs129974
|
0.02027
|
NM_001018115.3(FANCD2):c.516A>G (p.Ile172Met)
|
rs35173688
|
0.02009
|
NM_020754.4(ARHGAP31):c.1533A>G (p.Thr511=)
|
rs77678258
|
0.02008
|
NM_020754.4(ARHGAP31):c.1700C>T (p.Pro567Leu)
|
rs61744178
|
0.01996
|
NM_017617.5(NOTCH1):c.2587+20G>A
|
rs148381982
|
0.01991
|
NM_020754.4(ARHGAP31):c.1491C>A (p.Arg497=)
|
rs61747387
|
0.01984
|
NM_022458.4(LMBR1):c.*1922A>G
|
rs75582340
|
0.01984
|
NM_020937.4(FANCM):c.229A>G (p.Thr77Ala)
|
rs61746895
|
0.01981
|
NM_002465.4(MYBPC1):c.2809+12T>C
|
rs11110952
|
0.01947
|
NM_018668.5(VPS33B):c.648C>T (p.Gly216=)
|
rs59648701
|
0.01941
|
NM_000079.4(CHRNA1):c.540+4G>C
|
rs112674580
|
0.01914
|
NM_001429.4(EP300):c.1283-8T>C
|
rs76827562
|
0.01914
|
NM_001429.4(EP300):c.942C>T (p.Gly314=)
|
rs20553
|
0.01913
|
NM_133433.4(NIPBL):c.4240-14T>G
|
rs298972
|
0.01903
|
NM_005055.5(RAPSN):c.*207C>A
|
rs73459751
|
0.01891
|
NM_022725.4(FANCF):c.825G>A (p.Leu275=)
|
rs36045913
|
0.01879
|
NM_032444.4(SLX4):c.2824G>C (p.Glu942Gln)
|
rs114014006
|
0.01879
|
NM_000135.4(FANCA):c.3408+33T>C
|
rs17227191
|
0.01875
|
NM_005055.5(RAPSN):c.241T>C (p.Phe81Leu)
|
rs57878668
|
0.01874
|
NM_020812.4(DOCK6):c.2956-5C>T
|
rs3810309
|
0.01873
|
NM_001999.4(FBN2):c.3015G>A (p.Leu1005=)
|
rs28763946
|
0.01862
|
NM_017617.5(NOTCH1):c.711C>T (p.Gly237=)
|
rs61751557
|
0.01860
|
NM_147127.5(EVC2):c.3660-18C>A
|
rs6853237
|
0.01859
|
NM_000135.4(FANCA):c.755A>G (p.Asp252Gly)
|
rs17225943
|
0.01851
|
NM_001113525.2(ZNF276):c.1574+26C>A
|
rs17233812
|
0.01850
|
NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile)
|
rs61751489
|
0.01849
|
NM_032444.4(SLX4):c.*807G>A
|
rs115690937
|
0.01845
|
NM_032444.4(SLX4):c.*655G>A
|
rs116003727
|
0.01840
|
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met)
|
rs4987117
|
0.01834
|
NM_000141.5(FGFR2):c.*469G>A
|
rs41294351
|
0.01826
|
NM_004380.3(CREBBP):c.2784G>A (p.Pro928=)
|
rs3025694
|
0.01815
|
NM_002334.4(LRP4):c.5165T>A (p.Leu1722His)
|
rs117936904
|
0.01806
|
NM_004380.3(CREBBP):c.7212A>G (p.Glu2404=)
|
rs55916120
|
0.01802
|
NM_001374353.1(GLI2):c.1633-17C>T
|
rs78949549
|
0.01801
|
NM_181486.4(TBX5):c.*384T>C
|
rs12426660
|
0.01798
|
NM_001113378.2(FANCI):c.3651+19G>A
|
rs73472624
|
0.01789
|
NM_000136.3(FANCC):c.*2085C>A
|
rs4647559
|
0.01780
|
NM_181486.4(TBX5):c.1281C>T (p.Ser427=)
|
rs6489957
|
0.01766
|
NM_020436.5(SALL4):c.2130G>A (p.Thr710=)
|
rs61737143
|
0.01764
|
NM_022725.4(FANCF):c.*319A>G
|
rs12294705
|
0.01761
|
NM_017617.5(NOTCH1):c.2205C>T (p.Asn735=)
|
rs2229970
|
0.01759
|
NM_006306.4(SMC1A):c.*5481G>A
|
rs147896900
|
0.01746
|
NM_022458.4(LMBR1):c.*722G>C
|
rs11982416
|
0.01743
|
NM_002010.3(FGF9):c.*2585C>T
|
rs74036838
|
0.01723
|
NM_014918.5(CHSY1):c.1896C>T (p.Val632=)
|
rs3803423
|
0.01721
|
NM_020754.4(ARHGAP31):c.1614A>G (p.Glu538=)
|
rs61744411
|
0.01720
|
NM_024675.4(PALB2):c.2993G>A (p.Gly998Glu)
|
rs45551636
|
0.01717
|
NM_032444.4(SLX4):c.*984C>T
|
rs57699393
|
0.01715
|
NM_022458.4(LMBR1):c.*1905C>G
|
rs115581794
|
0.01706
|
NM_001429.4(EP300):c.2499G>A (p.Ser833=)
|
rs35560602
|
0.01700
|
NM_001429.4(EP300):c.6372C>T (p.Val2124=)
|
rs34985152
|
0.01700
|
NM_002334.4(LRP4):c.1117C>T (p.Arg373Trp)
|
rs118009068
|
0.01699
|
NM_138959.3(VANGL1):c.1040A>C (p.Glu347Ala)
|
rs34059106
|
0.01695
|
NM_000141.5(FGFR2):c.-458C>A
|
rs41301043
|
0.01688
|
NM_020639.3(RIPK4):c.1587G>A (p.Ser529=)
|
rs61740546
|
0.01687
|
NM_001271938.2(MEGF8):c.7054G>A (p.Val2352Met)
|
rs112167630
|
0.01684
|
NM_001113378.2(FANCI):c.1114G>A (p.Val372Ile)
|
rs76788798
|
0.01679
|
NM_001113525.2(ZNF276):c.1475-216G>A
|
rs17227452
|
0.01670
|
NM_018668.5(VPS33B):c.597C>T (p.Cys199=)
|
rs60198611
|
0.01658
|
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His)
|
rs61751543
|
0.01655
|
NM_001271938.2(MEGF8):c.7053C>T (p.Cys2351=)
|
rs28483598
|
0.01653
|
NM_001374353.1(GLI2):c.3892C>T (p.Pro1298Ser)
|
rs114376238
|
0.01651
|
NM_020754.4(ARHGAP31):c.682+19A>C
|
rs72966429
|
0.01642
|
NM_001271938.2(MEGF8):c.3351-3C>T
|
rs10411498
|
0.01637
|
NM_001113378.2(FANCI):c.868G>A (p.Val290Met)
|
rs113772230
|
0.01634
|
NM_001113525.2(ZNF276):c.1574+17A>C
|
rs17233833
|
0.01627
|
NM_138959.3(VANGL1):c.*3544C>T
|
rs74117023
|
0.01618
|
NM_020937.4(FANCM):c.4799C>T (p.Thr1600Ile)
|
rs61746943
|
0.01614
|
NM_001361.5(DHODH):c.819+10G>A
|
rs114267707
|
0.01597
|
NM_000141.5(FGFR2):c.*403A>G
|
rs3135826
|
0.01590
|
NM_002470.4(MYH3):c.4128C>T (p.Tyr1376=)
|
rs112569418
|
0.01571
|
NM_181486.4(TBX5):c.*812C>T
|
rs143511878
|
0.01571
|
NM_014918.5(CHSY1):c.1052A>G (p.Lys351Arg)
|
rs74752435
|
0.01562
|
NM_004380.3(CREBBP):c.5670C>T (p.Pro1890=)
|
rs115594471
|
0.01560
|
NM_181486.4(TBX5):c.*601G>A
|
rs116382074
|
0.01559
|
NM_003282.4(TNNI2):c.277-17G>A
|
rs112517111
|
0.01558
|
NM_001429.4(EP300):c.3426C>T (p.Cys1142=)
|
rs76268515
|
0.01549
|
NM_014918.5(CHSY1):c.1812G>A (p.Val604=)
|
rs3803422
|
0.01536
|
NM_001361.5(DHODH):c.*1014C>T
|
rs79926352
|
0.01533
|
NM_133433.4(NIPBL):c.781T>G (p.Ser261Ala)
|
rs16903425
|
0.01529
|
NM_002465.4(MYBPC1):c.556+9G>A
|
rs112788142
|
0.01527
|
NM_001330677.2(TBX15):c.519C>T (p.Tyr173=)
|
rs61730013
|
0.01515
|
NM_006306.4(SMC1A):c.412-10C>T
|
rs149219651
|
0.01511
|
NM_017617.5(NOTCH1):c.4129C>T (p.Pro1377Ser)
|
rs61751542
|
0.01511
|
NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser)
|
rs45494092
|
0.01508
|
NM_000136.3(FANCC):c.*359A>G
|
rs4647551
|
0.01505
|
NM_023110.3(FGFR1):c.2187-6C>T
|
rs4647904
|
0.01503
|
NM_004380.3(CREBBP):c.1953T>C (p.Tyr651=)
|
rs130003
|
0.01499
|
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu)
|
rs1800362
|
0.01494
|
NM_017617.5(NOTCH1):c.*6G>A
|
rs73668310
|
0.01480
|
NM_147127.5(EVC2):c.3040C>G (p.Leu1014Val)
|
rs75829835
|
0.01478
|
NM_000059.4(BRCA2):c.*397C>A
|
rs11571835
|
0.01470
|
NM_138959.3(VANGL1):c.*3336G>A
|
rs61732170
|
0.01470
|
NM_000136.3(FANCC):c.843+4C>T
|
rs4647506
|
0.01468
|
NM_032444.4(SLX4):c.-104A>G
|
rs73505426
|
0.01460
|
NM_004380.3(CREBBP):c.2974G>A (p.Val992Ile)
|
rs61731383
|
0.01447
|
NM_001374353.1(GLI2):c.963C>G (p.Pro321=)
|
rs149894186
|
0.01440
|
NM_173660.5(DOK7):c.1351C>T (p.Arg451Trp)
|
rs16844470
|
0.01433
|
NM_173660.5(DOK7):c.1317C>T (p.Ser439=)
|
rs16844467
|
0.01424
|
NM_005236.3(ERCC4):c.33C>T (p.Ala11=)
|
rs3136042
|
0.01420
|
NM_153717.3(EVC):c.2279G>A (p.Arg760Gln)
|
rs2279252
|
0.01416
|
NM_173660.5(DOK7):c.1143C>T (p.Pro381=)
|
rs56769879
|
0.01415
|
NM_005236.3(ERCC4):c.1884A>G (p.Glu628=)
|
rs2020958
|
0.01408
|
NM_000900.5(MGP):c.*343G>A
|
rs35112962
|
0.01395
|
NM_001271938.2(MEGF8):c.7737G>A (p.Thr2579=)
|
rs78335246
|
0.01393
|
NM_018062.4(FANCL):c.1077T>C (p.Cys359=)
|
rs11539575
|
0.01385
|
NM_013352.4(DSE):c.1118+15G>A
|
rs116330739
|
0.01381
|
NM_000141.5(FGFR2):c.*1319A>G
|
rs3135830
|
0.01380
|
NM_003722.5(TP63):c.859C>T (p.Leu287=)
|
rs33979049
|
0.01380
|
NM_001278689.2(EOGT):c.1170A>G (p.Lys390=)
|
rs114914860
|
0.01363
|
NM_004282.4(BAG2):c.*3786T>C
|
rs16888376
|
0.01354
|
NM_032444.4(SLX4):c.3868C>A (p.His1290Asn)
|
rs112596894
|
0.01345
|
NM_005055.5(RAPSN):c.614G>A (p.Arg205Gln)
|
rs34625105
|
0.01344
|
NM_020639.3(RIPK4):c.1425G>A (p.Leu475=)
|
rs56092943
|
0.01339
|
NM_001271938.2(MEGF8):c.3433C>T (p.Leu1145=)
|
rs115335139
|
0.01335
|
NM_017617.5(NOTCH1):c.2468-19G>A
|
rs116515776
|
0.01328
|
NM_020639.3(RIPK4):c.117G>A (p.Val39=)
|
rs147023104
|
0.01319
|
NM_001429.4(EP300):c.2131+17A>T
|
rs113214815
|
0.01318
|
NM_004282.4(BAG2):c.*5460C>T
|
rs16888378
|
0.01316
|
NM_023110.3(FGFR1):c.2314C>T (p.Pro772Ser)
|
rs56234888
|
0.01307
|
NM_000751.3(CHRND):c.*149A>G
|
rs114315112
|
0.01306
|
NM_001361.5(DHODH):c.*748C>T
|
rs117655998
|
0.01294
|
NM_017617.5(NOTCH1):c.1100-16G>C
|
rs146815871
|
0.01292
|
NM_002334.4(LRP4):c.431-12G>A
|
rs139371503
|
0.01289
|
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe)
|
rs4987047
|
0.01281
|
NM_002470.4(MYH3):c.699C>T (p.Asn233=)
|
rs16943604
|
0.01272
|
NM_002470.4(MYH3):c.349-7C>T
|
rs114366800
|
0.01261
|
NM_002470.4(MYH3):c.3009G>A (p.Ala1003=)
|
rs61735353
|
0.01244
|
NM_001164508.2(NEB):c.20766C>T (p.Asp6922=)
|
rs34555492
|
0.01234
|
NM_173660.5(DOK7):c.653-19A>C
|
rs191981243
|
0.01231
|
NM_002334.4(LRP4):c.*1445A>G
|
rs75558883
|
0.01226
|
NM_000059.4(BRCA2):c.8460A>C (p.Val2820=)
|
rs9590940
|
0.01220
|
NM_001113378.2(FANCI):c.3846C>T (p.Ser1282=)
|
rs34557339
|
0.01219
|
NM_001271938.2(MEGF8):c.4842C>T (p.Thr1614=)
|
rs35468447
|
0.01216
|
NM_005236.3(ERCC4):c.2624A>G (p.Glu875Gly)
|
rs1800124
|
0.01216
|
NM_147127.5(EVC2):c.1384A>G (p.Thr462Ala)
|
rs73063795
|
0.01215
|
NM_032634.4(PIGO):c.1404A>C (p.Ala468=)
|
rs35287398
|
0.01214
|
NM_001003722.2(GLE1):c.1000G>A (p.Glu334Lys)
|
rs138310419
|
0.01201
|
NM_017617.5(NOTCH1):c.5679C>T (p.Gly1893=)
|
rs2229973
|
0.01198
|
NM_058216.3(RAD51C):c.90G>A (p.Ala30=)
|
rs115414895
|
0.01193
|
NM_020436.5(SALL4):c.408T>C (p.Asn136=)
|
rs76870996
|
0.01190
|
NM_181486.4(TBX5):c.*40A>G
|
rs10850326
|
0.01186
|
NM_002693.3(POLG):c.3644-99C>T
|
rs3176241
|
0.01180
|
NM_000135.4(FANCA):c.1627-32T>C
|
rs17226337
|
0.01179
|
NM_002465.4(MYBPC1):c.*45C>T
|
rs73390504
|
0.01171
|
NM_153717.3(EVC):c.1464+8A>G
|
rs116236414
|
0.01163
|
NM_017617.5(NOTCH1):c.2664C>T (p.His888=)
|
rs61751548
|
0.01162
|
NM_020639.3(RIPK4):c.7G>A (p.Gly3Ser)
|
rs199825512
|
0.01162
|
NM_153717.3(EVC):c.2373G>A (p.Gln791=)
|
rs73795089
|
0.01161
|
NM_153717.3(EVC):c.2363G>A (p.Arg788His)
|
rs73795088
|
0.01159
|
NM_003722.5(TP63):c.1652+14A>C
|
rs150685395
|
0.01158
|
NM_022725.4(FANCF):c.959C>T (p.Pro320Leu)
|
rs45451294
|
0.01158
|
NM_001374353.1(GLI2):c.1710G>A (p.Thr570=)
|
rs61732852
|
0.01154
|
NM_002968.3(SALL1):c.2178G>A (p.Arg726=)
|
rs144019351
|
0.01142
|
NM_017617.5(NOTCH1):c.2691C>T (p.Ala897=)
|
rs11574895
|
0.01135
|
NM_018668.5(VPS33B):c.-8C>T
|
rs11542639
|
0.01125
|
NM_000900.5(MGP):c.*615A>G
|
rs34181533
|
0.01124
|
NM_020639.3(RIPK4):c.1311C>T (p.Ser437=)
|
rs56149248
|
0.01122
|
NM_004380.3(CREBBP):c.6621A>G (p.Gln2207=)
|
rs55960450
|
0.01121
|
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn)
|
rs4986852
|
0.01109
|
NM_032043.3(BRIP1):c.*172G>C
|
rs111898257
|
0.01099
|
NM_020937.4(FANCM):c.1964A>G (p.Asn655Ser)
|
rs61753893
|
0.01090
|
NM_032634.4(PIGO):c.423C>T (p.Gly141=)
|
rs116248521
|
0.01090
|
NM_004380.3(CREBBP):c.3128C>T (p.Ser1043Leu)
|
rs61731376
|
0.01088
|
NM_001999.4(FBN2):c.*1132A>G
|
rs77373296
|
0.01086
|
NM_000135.4(FANCA):c.2504+161T>C
|
rs17233050
|
0.01083
|
NM_020937.4(FANCM):c.624A>G (p.Ile208Met)
|
rs45547534
|
0.01077
|
NM_173660.5(DOK7):c.782G>A (p.Arg261His)
|
rs16844460
|
0.01070
|
NM_020639.3(RIPK4):c.1119G>T (p.Gly373=)
|
rs61744790
|
0.01056
|
NM_005431.2(XRCC2):c.40-10C>T
|
rs3218472
|
0.01055
|
NM_021922.3(FANCE):c.-56C>T
|
rs4713866
|
0.01055
|
NM_001429.4(EP300):c.2019T>C (p.Pro673=)
|
rs2230110
|
0.01054
|
NM_020639.3(RIPK4):c.*707G>A
|
rs115461340
|
0.01049
|
NM_022725.4(FANCF):c.624G>T (p.Ala208=)
|
rs7103674
|
0.01048
|
NM_001113525.2(ZNF276):c.*1316C>T
|
rs9282680
|
0.01028
|
NM_005236.3(ERCC4):c.2655G>A (p.Thr885=)
|
rs16963255
|
0.01026
|
NM_004380.3(CREBBP):c.6609A>G (p.Gln2203=)
|
rs62636220
|
0.01025
|
NM_002968.3(SALL1):c.3872A>G (p.Asn1291Ser)
|
rs74499562
|
0.01024
|
NM_005445.4(SMC3):c.*158G>A
|
rs183542538
|
0.01009
|
NM_000900.5(MGP):c.*604A>G
|
rs114512785
|
0.01002
|
NM_004380.3(CREBBP):c.459G>A (p.Pro153=)
|
rs56388626
|
0.01000
|
NM_017617.5(NOTCH1):c.6648G>A (p.Pro2216=)
|
rs3812596
|
0.01000
|
NM_032444.4(SLX4):c.4338C>T (p.Thr1446=)
|
rs77718962
|
0.00998
|
NM_032043.3(BRIP1):c.*1820C>T
|
rs114037902
|
0.00997
|
NM_017837.4(PIGV):c.615C>T (p.Asn205=)
|
rs34512715
|
0.00995
|
NM_022458.4(LMBR1):c.*15G>A
|
rs78838110
|
0.00995
|
NM_032444.4(SLX4):c.5146T>A (p.Ser1716Thr)
|
rs75182789
|
0.00995
|
NM_153717.3(EVC):c.385-16C>T
|
rs113571700
|
0.00995
|
NM_001999.4(FBN2):c.2778C>T (p.Ala926=)
|
rs28763948
|
0.00992
|
NM_017617.5(NOTCH1):c.1665G>A (p.Thr555=)
|
rs148331061
|
0.00992
|
NM_006306.4(SMC1A):c.*2423G>A
|
rs147324052
|
0.00991
|
NM_005199.5(CHRNG):c.951C>A (p.Ile317=)
|
rs75369104
|
0.00988
|
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg)
|
rs4986860
|
0.00984
|
NM_003722.5(TP63):c.*1386T>C
|
rs35785527
|
0.00979
|
NM_153717.3(EVC):c.2872G>A (p.Asp958Asn)
|
rs35287723
|
0.00977
|
NM_005445.4(SMC3):c.1092-8T>G
|
rs79912955
|
0.00975
|
NM_001271938.2(MEGF8):c.1902C>T (p.Cys634=)
|
rs150535071
|
0.00974
|
NM_032444.4(SLX4):c.999C>T (p.Ile333=)
|
rs7198338
|
0.00974
|
NM_001374353.1(GLI2):c.4003A>G (p.Met1335Val)
|
rs149140724
|
0.00970
|
NM_153717.3(EVC):c.2505G>A (p.Ser835=)
|
rs115976359
|
0.00969
|
NM_032444.4(SLX4):c.1153C>A (p.Pro385Thr)
|
rs115694169
|
0.00968
|
NM_032444.4(SLX4):c.2746G>T (p.Ala916Ser)
|
rs79448721
|
0.00968
|
NM_001374353.1(GLI2):c.4507G>A (p.Asp1503Asn)
|
rs114814747
|
0.00964
|
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu)
|
rs56082113
|
0.00964
|
NM_001346754.2(PIGW):c.1020C>T (p.Ala340=)
|
rs74323480
|
0.00953
|
NM_001018115.3(FANCD2):c.2148C>G (p.Thr716=)
|
rs55856815
|
0.00952
|
NM_001999.4(FBN2):c.-262C>T
|
rs540026322
|
0.00943
|
NM_005236.3(ERCC4):c.252C>T (p.Leu84=)
|
rs3136056
|
0.00941
|
NM_133433.4(NIPBL):c.3121+11T>G
|
rs457583
|
0.00941
|
NM_017617.5(NOTCH1):c.7515T>G (p.Pro2505=)
|
rs34152221
|
0.00938
|
NM_002334.4(LRP4):c.5010G>A (p.Val1670=)
|
rs111426027
|
0.00936
|
NM_002465.4(MYBPC1):c.26-9C>T
|
rs181619118
|
0.00935
|
NM_002968.3(SALL1):c.2544A>G (p.Gln848=)
|
rs45459896
|
0.00931
|
NM_032444.4(SLX4):c.*555C>T
|
rs146163310
|
0.00927
|
NM_001271938.2(MEGF8):c.6641+15G>A
|
rs118098511
|
0.00926
|
NM_032444.4(SLX4):c.4115G>A (p.Arg1372Gln)
|
rs79174372
|
0.00921
|
NM_000751.3(CHRND):c.243C>T (p.His81=)
|
rs115841867
|
0.00919
|
NM_006306.4(SMC1A):c.*5016T>C
|
rs17002602
|
0.00919
|
NM_020937.4(FANCM):c.5190G>A (p.Gln1730=)
|
rs7142192
|
0.00916
|
NM_022725.4(FANCF):c.*738T>G
|
rs76674060
|
0.00915
|
NM_020937.4(FANCM):c.3863A>G (p.Asn1288Ser)
|
rs116519044
|
0.00914
|
NM_001278689.2(EOGT):c.562A>T (p.Lys188Ter)
|
rs116711473
|
0.00908
|
NM_001793.6(CDH3):c.1285G>A (p.Val429Ile)
|
rs34394404
|
0.00905
|
NM_147127.5(EVC2):c.1311A>G (p.Leu437=)
|
rs77131452
|
0.00904
|
NM_017617.5(NOTCH1):c.5011G>A (p.Val1671Ile)
|
rs2229968
|
0.00898
|
NM_000135.4(FANCA):c.601C>T (p.Pro201Ser)
|
rs144917960
|
0.00895
|
NM_001361.5(DHODH):c.573G>A (p.Ala191=)
|
rs148523165
|
0.00894
|
NM_001003722.2(GLE1):c.*387C>G
|
rs78624767
|
0.00891
|
NM_001999.4(FBN2):c.1466-5C>T
|
rs28763952
|
0.00887
|
NM_001346754.2(PIGW):c.705C>G (p.His235Gln)
|
rs61755368
|
0.00885
|
NM_133433.4(NIPBL):c.3541A>C (p.Arg1181=)
|
rs35748854
|
0.00882
|
NM_002010.3(FGF9):c.*996A>G
|
rs17070748
|
0.00874
|
NM_020754.4(ARHGAP31):c.432-7A>G
|
rs10049221
|
0.00871
|
NM_001271938.2(MEGF8):c.8426G>A (p.Arg2809Lys)
|
rs11881304
|
0.00870
|
NM_001999.4(FBN2):c.7296G>T (p.Gln2432His)
|
rs34600572
|
0.00870
|
NM_001018115.3(FANCD2):c.2484G>A (p.Lys828=)
|
rs55980657
|
0.00869
|
NM_003722.5(TP63):c.*1620T>C
|
rs34328757
|
0.00869
|
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr)
|
rs11571707
|
0.00868
|
NM_014918.5(CHSY1):c.114C>T (p.Gly38=)
|
rs773533401
|
0.00867
|
NM_020937.4(FANCM):c.5656C>T (p.His1886Tyr)
|
rs79343837
|
0.00864
|
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln)
|
rs17885240
|
0.00863
|
NM_147127.5(EVC2):c.692A>G (p.Lys231Arg)
|
rs114024753
|
0.00863
|
NM_006757.4(TNNT3):c.367-9T>C
|
rs76471485
|
0.00859
|
NM_017617.5(NOTCH1):c.1635C>T (p.Asp545=)
|
rs11574889
|
0.00854
|
NM_002334.4(LRP4):c.*54G>A
|
rs147627264
|
0.00852
|
NM_006306.4(SMC1A):c.2197-5T>C
|
rs2297104
|
0.00852
|
NM_147127.5(EVC2):c.3138C>G (p.Ser1046Arg)
|
rs73074138
|
0.00851
|
NM_032444.4(SLX4):c.710G>A (p.Arg237Gln)
|
rs138615800
|
0.00848
|
NM_022725.4(FANCF):c.96C>T (p.Arg32=)
|
rs151253274
|
0.00838
|
NM_001429.4(EP300):c.2998-12G>A
|
rs115849119
|
0.00836
|
NM_020937.4(FANCM):c.5142G>A (p.Ala1714=)
|
rs111894696
|
0.00835
|
NM_001374353.1(GLI2):c.1818C>A (p.Gly606=)
|
rs61732850
|
0.00832
|
NM_001999.4(FBN2):c.4312G>A (p.Glu1438Lys)
|
rs56168072
|
0.00832
|
NM_001018113.3(FANCB):c.-229T>G
|
rs149617434
|
0.00830
|
NM_020937.4(FANCM):c.5224A>G (p.Ile1742Val)
|
rs143662421
|
0.00824
|
NM_002334.4(LRP4):c.*1017C>T
|
rs10838623
|
0.00823
|
NM_000557.5(GDF5):c.*468G>A
|
rs79051206
|
0.00818
|
NM_022725.4(FANCF):c.*2123G>A
|
rs45625034
|
0.00813
|
NM_000136.3(FANCC):c.1330-3C>T
|
rs4647542
|
0.00811
|
NM_032444.4(SLX4):c.1898G>A (p.Gly633Asp)
|
rs1056085
|
0.00810
|
NM_138959.3(VANGL1):c.-239G>A
|
rs563855412
|
0.00806
|
NM_001003722.2(GLE1):c.*1005T>C
|
rs4466499
|
0.00804
|
NM_002465.4(MYBPC1):c.2010C>T (p.Tyr670=)
|
rs77045393
|
0.00802
|
NM_000141.5(FGFR2):c.109+10T>G
|
rs3135722
|
0.00799
|
NM_170707.4(LMNA):c.51C>T (p.Ser17=)
|
rs11549668
|
0.00797
|
NM_020639.3(RIPK4):c.*550C>G
|
rs113816274
|
0.00795
|
NM_002465.4(MYBPC1):c.-93C>T
|
rs78173516
|
0.00794
|
NM_000751.3(CHRND):c.932+20G>A
|
rs114022008
|
0.00793
|
NM_002470.4(MYH3):c.774G>A (p.Lys258=)
|
rs16943598
|
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_002470.4(MYH3):c.3726T>C (p.Ser1242=)
|
rs77946261
|
0.00792
|
NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=)
|
rs34351119
|
0.00791
|
NM_020937.4(FANCM):c.2445G>A (p.Ser815=)
|
rs61745871
|
0.00791
|
NM_173660.5(DOK7):c.332-4G>A
|
rs199578351
|
0.00790
|
NM_000059.4(BRCA2):c.*295C>G
|
rs11571834
|
0.00789
|
NM_002693.3(POLG):c.3644-9A>G
|
rs115048121
|
0.00785
|
NM_004380.3(CREBBP):c.5454G>A (p.Val1818=)
|
rs61754523
|
0.00785
|
NM_001999.4(FBN2):c.3166G>T (p.Ala1056Ser)
|
rs28763945
|
0.00784
|
NM_023110.3(FGFR1):c.600C>T (p.Asp200=)
|
rs17175898
|
0.00782
|
NM_002968.3(SALL1):c.390G>A (p.Pro130=)
|
rs75156807
|
0.00781
|
NM_001793.6(CDH3):c.2280+7C>T
|
rs114709429
|
0.00779
|
NM_017617.5(NOTCH1):c.2969+13C>T
|
rs7864720
|
0.00778
|
NM_005592.4(MUSK):c.1991A>G (p.Asn664Ser)
|
rs55963442
|
0.00777
|
NM_032444.4(SLX4):c.5281C>T (p.Arg1761Cys)
|
rs143818824
|
0.00776
|
NM_006306.4(SMC1A):c.*2389G>T
|
rs114329529
|
0.00775
|
NM_000079.4(CHRNA1):c.*426C>A
|
rs115375214
|
0.00774
|
NM_032444.4(SLX4):c.3963G>A (p.Pro1321=)
|
rs116781836
|
0.00774
|
NM_001113378.2(FANCI):c.1326G>A (p.Glu442=)
|
rs34405660
|
0.00772
|
NM_001018115.3(FANCD2):c.3105+15C>T
|
rs460965
|
0.00770
|
NM_022725.4(FANCF):c.387C>T (p.Leu129=)
|
rs45556032
|
0.00759
|
NM_017617.5(NOTCH1):c.3780G>C (p.Val1260=)
|
rs201354526
|
0.00754
|
NM_018062.4(FANCL):c.*95A>G
|
rs76348639
|
0.00754
|
NM_001271938.2(MEGF8):c.5011+15C>T
|
rs78233194
|
0.00745
|
NM_002010.3(FGF9):c.*1877G>A
|
rs17070759
|
0.00742
|
NM_014918.5(CHSY1):c.1566G>A (p.Ser522=)
|
rs74784454
|
0.00742
|
NM_021939.4(FKBP10):c.1546G>A (p.Glu516Lys)
|
rs76022961
|
0.00741
|
NM_001018115.3(FANCD2):c.195G>C (p.Gln65His)
|
rs36084488
|
0.00738
|
NM_138959.3(VANGL1):c.*1652C>T
|
rs146512242
|
0.00738
|
NM_153717.3(EVC):c.1320T>A (p.Phe440Leu)
|
rs60582583
|
0.00733
|
NM_001429.4(EP300):c.1168+7G>C
|
rs181755354
|
0.00718
|
NM_004380.3(CREBBP):c.1651C>A (p.Leu551Ile)
|
rs61753381
|
0.00715
|
NM_023110.3(FGFR1):c.2262G>A (p.Leu754=)
|
rs56341011
|
0.00711
|
NM_001113378.2(FANCI):c.1813C>T (p.Leu605Phe)
|
rs117125761
|
0.00708
|
NM_001271938.2(MEGF8):c.5489-16C>T
|
rs35875097
|
0.00707
|
NM_005236.3(ERCC4):c.2463A>G (p.Pro821=)
|
rs2020953
|
0.00706
|
NM_001018113.3(FANCB):c.402A>G (p.Leu134=)
|
rs147260208
|
0.00701
|
NM_032444.4(SLX4):c.1924+19C>A
|
rs113075119
|
0.00694
|
NM_018668.5(VPS33B):c.1671A>G (p.Glu557=)
|
rs148071246
|
0.00686
|
NM_017617.5(NOTCH1):c.663C>T (p.Pro221=)
|
rs11574872
|
0.00685
|
NM_003334.4(UBA1):c.2308A>C (p.Asn770His)
|
rs143044923
|
0.00683
|
NM_032444.4(SLX4):c.2924C>T (p.Pro975Leu)
|
rs114472821
|
0.00679
|
NM_002334.4(LRP4):c.997G>A (p.Gly333Arg)
|
rs61744209
|
0.00677
|
NM_153717.3(EVC):c.780G>A (p.Lys260=)
|
rs41269555
|
0.00676
|
NM_001999.4(FBN2):c.728T>C (p.Ile243Thr)
|
rs117524265
|
0.00674
|
NM_147127.5(EVC2):c.1198A>G (p.Thr400Ala)
|
rs138972736
|
0.00672
|
NM_004629.2(FANCG):c.988C>T (p.Pro330Ser)
|
rs4986940
|
0.00670
|
NM_000192.3(TBX5):c.-545C>T
|
rs115599823
|
0.00666
|
NM_001271938.2(MEGF8):c.5634C>T (p.Arg1878=)
|
rs62648096
|
0.00664
|
NM_005592.4(MUSK):c.1189T>C (p.Tyr397His)
|
rs79843573
|
0.00659
|
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser)
|
rs28763954
|
0.00654
|
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala)
|
rs28363317
|
0.00653
|
NM_147127.5(EVC2):c.2707-5T>C
|
rs186058156
|
0.00650
|
NM_032444.4(SLX4):c.1803G>A (p.Ser601=)
|
rs144892556
|
0.00649
|
NM_017617.5(NOTCH1):c.5019-13A>G
|
rs148002954
|
0.00648
|
NM_001429.4(EP300):c.631G>A (p.Gly211Ser)
|
rs142030651
|
0.00646
|
NM_017617.5(NOTCH1):c.3767C>T (p.Pro1256Leu)
|
rs80340744
|
0.00645
|
NM_017617.5(NOTCH1):c.5168-10G>A
|
rs199903655
|
0.00645
|
NM_022458.4(LMBR1):c.*2489T>C
|
rs191993720
|
0.00644
|
NM_002470.4(MYH3):c.3592G>A (p.Ala1198Thr)
|
rs61735358
|
0.00641
|
NM_001271938.2(MEGF8):c.8337C>T (p.Gly2779=)
|
rs115428796
|
0.00640
|
NM_003722.5(TP63):c.*1343T>C
|
rs35659283
|
0.00640
|
NM_017617.5(NOTCH1):c.6777T>C (p.Gly2259=)
|
rs61751490
|
0.00638
|
NM_032444.4(SLX4):c.1755C>T (p.Pro585=)
|
rs114016359
|
0.00638
|
NM_002968.3(SALL1):c.3222G>A (p.Ala1074=)
|
rs61731131
|
0.00636
|
NM_001999.4(FBN2):c.8154C>T (p.Leu2718=)
|
rs34119447
|
0.00635
|
NM_032634.4(PIGO):c.1120-15C>A
|
rs77344591
|
0.00631
|
NM_003722.5(TP63):c.*2139G>A
|
rs35356690
|
0.00627
|
NM_001113378.2(FANCI):c.3525C>A (p.Ala1175=)
|
rs114810692
|
0.00625
|
NM_005236.3(ERCC4):c.2617A>G (p.Ile873Val)
|
rs2020957
|
0.00625
|
NM_006265.3(RAD21):c.1242T>G (p.Asp414Glu)
|
rs75160167
|
0.00623
|
NM_002470.4(MYH3):c.453C>T (p.Ala151=)
|
rs7214436
|
0.00621
|
NM_001271938.2(MEGF8):c.357G>A (p.Leu119=)
|
rs115536529
|
0.00618
|
NM_001999.4(FBN2):c.629-9A>G
|
rs56025995
|
0.00616
|
NM_004380.3(CREBBP):c.5988C>T (p.Ala1996=)
|
rs181646656
|
0.00612
|
NM_032444.4(SLX4):c.90C>T (p.Ser30=)
|
rs118089506
|
0.00612
|
NM_001278689.2(EOGT):c.620+17G>A
|
rs144884919
|
0.00611
|
NM_032043.3(BRIP1):c.*2538G>A
|
rs150080122
|
0.00610
|
NM_005105.5(RBM8A):c.68-6T>C
|
rs112273321
|
0.00607
|
NM_138959.3(VANGL1):c.*1627A>G
|
rs149888685
|
0.00606
|
NM_022725.4(FANCF):c.373G>A (p.Asp125Asn)
|
rs61752920
|
0.00605
|
NM_001271938.2(MEGF8):c.4713C>T (p.Ala1571=)
|
rs149279834
|
0.00602
|
NM_000135.4(FANCA):c.1928C>G (p.Pro643Arg)
|
rs34592408
|
0.00601
|
NM_001999.4(FBN2):c.8347G>C (p.Glu2783Gln)
|
rs76756898
|
0.00599
|
NM_022725.4(FANCF):c.557C>T (p.Ala186Val)
|
rs113910234
|
0.00595
|
NM_016277.5(RAB23):c.301T>G (p.Ser101Ala)
|
rs45479896
|
0.00589
|
NM_032043.3(BRIP1):c.206-21T>C
|
rs2048717
|
0.00589
|
NM_017617.5(NOTCH1):c.64C>T (p.Pro22Ser)
|
rs114832250
|
0.00587
|
NM_032043.3(BRIP1):c.*280G>C
|
rs189935192
|
0.00585
|
NM_003282.4(TNNI2):c.150G>A (p.Pro50=)
|
rs139820259
|
0.00584
|
NM_000079.4(CHRNA1):c.*218C>T
|
rs79539026
|
0.00579
|
NM_001361.5(DHODH):c.*404G>A
|
rs150155845
|
0.00579
|
NM_032634.4(PIGO):c.2432G>A (p.Arg811Gln)
|
rs75579358
|
0.00578
|
NM_032444.4(SLX4):c.5501A>G (p.Asn1834Ser)
|
rs111738042
|
0.00575
|
NM_001793.6(CDH3):c.996+13C>T
|
rs114408705
|
0.00573
|
NM_032043.3(BRIP1):c.1141-94G>T
|
rs114901675
|
0.00573
|
NM_001999.4(FBN2):c.3762C>T (p.Asp1254=)
|
rs2279582
|
0.00570
|
NM_032043.3(BRIP1):c.*616A>G
|
rs116292412
|
0.00570
|
NM_147127.5(EVC2):c.1730T>C (p.Met577Thr)
|
rs113869406
|
0.00570
|
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg)
|
rs17233141
|
0.00567
|
NM_023110.3(FGFR1):c.345C>T (p.Ser115=)
|
rs2915665
|
0.00567
|
NM_000079.4(CHRNA1):c.1233G>T (p.Glu411Asp)
|
rs61737716
|
0.00561
|
NM_017617.5(NOTCH1):c.5124G>T (p.Ser1708=)
|
rs35980907
|
0.00561
|
NM_153717.3(EVC):c.284A>G (p.Asp95Gly)
|
rs41269547
|
0.00561
|
NM_000135.4(FANCA):c.1359+10C>T
|
rs34159559
|
0.00557
|
NM_017617.5(NOTCH1):c.6991G>A (p.Ala2331Thr)
|
rs111309246
|
0.00557
|
NM_032634.4(PIGO):c.1473G>C (p.Leu491=)
|
rs76932500
|
0.00557
|
NM_002010.3(FGF9):c.-429G>A
|
rs115025644
|
0.00556
|
NM_013352.4(DSE):c.114C>T (p.Ala38=)
|
rs36061922
|
0.00553
|
NM_000751.3(CHRND):c.1253-8G>A
|
rs144545619
|
0.00548
|
NM_003334.4(UBA1):c.2364C>T (p.Ala788=)
|
rs2228658
|
0.00548
|
NM_002465.4(MYBPC1):c.608+14A>G
|
rs4448745
|
0.00545
|
NM_002465.4(MYBPC1):c.594T>C (p.Ser198=)
|
rs79442861
|
0.00543
|
NM_020754.4(ARHGAP31):c.3256G>A (p.Ala1086Thr)
|
rs61744168
|
0.00542
|
NM_000557.5(GDF5):c.349G>T (p.Ala117Ser)
|
rs151149144
|
0.00539
|
NM_001999.4(FBN2):c.1285A>G (p.Ser429Gly)
|
rs115242287
|
0.00534
|
NM_014918.5(CHSY1):c.333G>A (p.Lys111=)
|
rs117481449
|
0.00530
|
NM_005055.5(RAPSN):c.193-14G>A
|
rs114738594
|
0.00529
|
NM_002470.4(MYH3):c.1575C>T (p.Ile525=)
|
rs34695778
|
0.00528
|
NM_001793.6(CDH3):c.*195G>T
|
rs114591853
|
0.00526
|
NM_002465.4(MYBPC1):c.*169G>T
|
rs115971493
|
0.00526
|
NM_001018113.3(FANCB):c.*66T>G
|
rs143434225
|
0.00525
|
NM_002010.3(FGF9):c.*2634C>T
|
rs190925273
|
0.00525
|
NM_001374353.1(GLI2):c.3539G>A (p.Gly1180Asp)
|
rs114823319
|
0.00522
|
NM_147127.5(EVC2):c.814C>T (p.Arg272Trp)
|
rs114142742
|
0.00521
|
NM_005199.5(CHRNG):c.1516C>T (p.Pro506Ser)
|
rs71421651
|
0.00520
|
NM_000135.4(FANCA):c.1826+12C>T
|
rs183513839
|
0.00518
|
NM_004380.3(CREBBP):c.6685G>A (p.Gly2229Ser)
|
rs139688311
|
0.00518
|
NM_032043.3(BRIP1):c.-197C>A
|
rs180948389
|
0.00518
|
NM_173660.5(DOK7):c.1204C>T (p.Arg402Trp)
|
rs149905649
|
0.00516
|
NM_058216.3(RAD51C):c.572-17G>T
|
rs193023469
|
0.00513
|
NM_147127.5(EVC2):c.2863C>T (p.Arg955Trp)
|
rs116502852
|
0.00513
|
NM_147127.5(EVC2):c.1845C>T (p.Thr615=)
|
rs112747818
|
0.00512
|
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe)
|
rs1800361
|
0.00511
|
NM_032634.4(PIGO):c.2040G>C (p.Leu680=)
|
rs41274877
|
0.00511
|
NM_000135.4(FANCA):c.21G>T (p.Pro7=)
|
rs115856189
|
0.00509
|
NM_001271938.2(MEGF8):c.8466C>A (p.Gly2822=)
|
rs576629405
|
0.00506
|
NM_001271938.2(MEGF8):c.8467A>G (p.Ser2823Gly)
|
rs537269414
|
0.00506
|
NM_002470.4(MYH3):c.4356+11C>T
|
rs150348272
|
0.00505
|
NM_017837.4(PIGV):c.101C>T (p.Pro34Leu)
|
rs139246652
|
0.00505
|
NM_017617.5(NOTCH1):c.7209G>A (p.Gln2403=)
|
rs61751486
|
0.00503
|
NM_020754.4(ARHGAP31):c.384G>C (p.Leu128=)
|
rs150339878
|
0.00503
|
NM_001113378.2(FANCI):c.976-13A>T
|
rs145864790
|
0.00501
|
NM_005445.4(SMC3):c.2007T>C (p.Tyr669=)
|
rs147404470
|
0.00501
|
NM_000192.3(TBX5):c.-586C>G
|
rs76464487
|
0.00499
|
NM_003722.5(TP63):c.*2016A>G
|
rs115660354
|
0.00499
|
NM_032444.4(SLX4):c.*1095G>A
|
rs116498263
|
0.00499
|
NM_001113378.2(FANCI):c.1699-7C>A
|
rs28446881
|
0.00498
|
NM_006306.4(SMC1A):c.699G>A (p.Val233=)
|
rs145319852
|
0.00488
|
NM_138959.3(VANGL1):c.*5444C>G
|
rs142497673
|
0.00486
|
NM_013352.4(DSE):c.711G>C (p.Leu237=)
|
rs140034597
|
0.00484
|
NM_017617.5(NOTCH1):c.6397C>T (p.Pro2133Ser)
|
rs61733294
|
0.00484
|
NM_001374353.1(GLI2):c.720C>T (p.Asp240=)
|
rs142793481
|
0.00483
|
NM_002968.3(SALL1):c.292A>G (p.Met98Val)
|
rs28643388
|
0.00481
|
NM_032043.3(BRIP1):c.2236A>G (p.Ile746Val)
|
rs111536363
|
0.00480
|
NM_020639.3(RIPK4):c.*1025G>T
|
rs73216989
|
0.00478
|
NM_017617.5(NOTCH1):c.873C>T (p.Tyr291=)
|
rs143654474
|
0.00477
|
NM_032444.4(SLX4):c.718A>G (p.Asn240Asp)
|
rs114744903
|
0.00474
|
NM_005105.5(RBM8A):c.240C>T (p.Val80=)
|
rs1806851
|
0.00473
|
NM_014918.5(CHSY1):c.423C>T (p.Asp141=)
|
rs115447262
|
0.00473
|
NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser)
|
rs1799802
|
0.00471
|
NM_001271938.2(MEGF8):c.5316G>A (p.Leu1772=)
|
rs112433681
|
0.00470
|
NM_173660.5(DOK7):c.134C>T (p.Ser45Leu)
|
rs62272670
|
0.00470
|
NM_002465.4(MYBPC1):c.-46C>T
|
rs148011345
|
0.00469
|
NM_032444.4(SLX4):c.*1022A>G
|
rs78346491
|
0.00466
|
NM_001374353.1(GLI2):c.4281G>A (p.Met1427Ile)
|
rs146467786
|
0.00465
|
NM_001374353.1(GLI2):c.4282C>T (p.Leu1428Phe)
|
rs146207623
|
0.00465
|
NM_138959.3(VANGL1):c.*5267G>A
|
rs75064936
|
0.00465
|
NM_007294.4(BRCA1):c.5468-10C>A
|
rs8176316
|
0.00464
|
NM_022458.4(LMBR1):c.*1797G>C
|
rs113036233
|
0.00464
|
NM_147127.5(EVC2):c.675A>G (p.Gly225=)
|
rs74930168
|
0.00463
|
NM_001113378.2(FANCI):c.2056C>A (p.Gln686Lys)
|
rs28378332
|
0.00462
|
NM_001018115.3(FANCD2):c.1634A>G (p.Asn545Ser)
|
rs145522204
|
0.00460
|
NM_002334.4(LRP4):c.300G>A (p.Ser100=)
|
rs61745166
|
0.00459
|
NM_001113378.2(FANCI):c.3103C>T (p.Leu1035=)
|
rs34462132
|
0.00456
|
NM_020937.4(FANCM):c.3920A>G (p.Tyr1307Cys)
|
rs61730251
|
0.00456
|
NM_000192.3(TBX5):c.-449G>C
|
rs148864662
|
0.00454
|
NM_006306.4(SMC1A):c.1698G>A (p.Glu566=)
|
rs7052858
|
0.00452
|
NM_002010.3(FGF9):c.-171A>G
|
rs149762079
|
0.00451
|
NM_153717.3(EVC):c.469C>G (p.Pro157Ala)
|
rs146729456
|
0.00451
|
NM_001018115.3(FANCD2):c.1156T>G (p.Phe386Val)
|
rs149125003
|
0.00450
|
NM_024675.4(PALB2):c.2794G>A (p.Val932Met)
|
rs45624036
|
0.00449
|
NM_181486.4(TBX5):c.*673C>T
|
rs140532076
|
0.00449
|
NM_022725.4(FANCF):c.883G>A (p.Val295Ile)
|
rs7103293
|
0.00448
|
NM_138959.3(VANGL1):c.*3653C>T
|
rs146435279
|
0.00442
|
NM_000059.4(BRCA2):c.7008-62A>G
|
rs76584943
|
0.00439
|
NM_003722.5(TP63):c.*2002T>G
|
rs35969817
|
0.00439
|
NM_004380.3(CREBBP):c.5933A>G (p.Asn1978Ser)
|
rs112906840
|
0.00438
|
NM_017617.5(NOTCH1):c.3333C>T (p.Asp1111=)
|
rs61751545
|
0.00435
|
NM_001999.4(FBN2):c.6000A>G (p.Leu2000=)
|
rs148293104
|
0.00434
|
NM_022458.4(LMBR1):c.*303T>C
|
rs115465818
|
0.00434
|
NM_000135.4(FANCA):c.903G>T (p.Val301=)
|
rs56062548
|
0.00432
|
NM_006306.4(SMC1A):c.298+19A>G
|
rs113817745
|
0.00432
|
NM_021922.3(FANCE):c.1572G>A (p.Arg524=)
|
rs115195341
|
0.00429
|
NM_002465.4(MYBPC1):c.608+9A>G
|
rs183524782
|
0.00428
|
NM_001999.4(FBN2):c.1040G>A (p.Arg347His)
|
rs112428886
|
0.00427
|
NM_001999.4(FBN2):c.6512-17G>C
|
rs28763932
|
0.00427
|
NM_003722.5(TP63):c.*854A>G
|
rs187751631
|
0.00427
|
NM_022458.4(LMBR1):c.*685G>A
|
rs149399222
|
0.00426
|
NM_016277.5(RAB23):c.-23C>T
|
rs145059995
|
0.00424
|
NM_138959.3(VANGL1):c.*2865A>G
|
rs114921471
|
0.00424
|
NM_181486.4(TBX5):c.787G>A (p.Val263Met)
|
rs147405081
|
0.00423
|
NM_001999.4(FBN2):c.6615C>T (p.Asp2205=)
|
rs28763931
|
0.00422
|
NM_002470.4(MYH3):c.690C>G (p.Ala230=)
|
rs147148934
|
0.00421
|
NM_002010.3(FGF9):c.*516C>A
|
rs73430215
|
0.00419
|
NM_018668.5(VPS33B):c.-271A>C
|
rs116461458
|
0.00418
|
NM_006265.3(RAD21):c.938-11T>C
|
rs200333487
|
0.00417
|
NM_018668.5(VPS33B):c.1332G>A (p.Thr444=)
|
rs147407982
|
0.00416
|
NM_032444.4(SLX4):c.1637A>G (p.Tyr546Cys)
|
rs150547487
|
0.00416
|
NM_147127.5(EVC2):c.307T>C (p.Leu103=)
|
rs140877783
|
0.00416
|
NM_000141.5(FGFR2):c.159G>A (p.Ala53=)
|
rs1047102
|
0.00414
|
NM_000079.4(CHRNA1):c.643G>A (p.Asp215Asn)
|
rs148304857
|
0.00413
|
NM_138959.3(VANGL1):c.345C>T (p.Val115=)
|
rs79828493
|
0.00413
|
NM_000136.3(FANCC):c.-79+5G>A
|
rs4647350
|
0.00411
|
NM_020639.3(RIPK4):c.1617G>A (p.Thr539=)
|
rs61740535
|
0.00411
|
NM_001361.5(DHODH):c.457C>A (p.Leu153Ile)
|
rs61741731
|
0.00410
|
NM_001429.4(EP300):c.2773C>A (p.Pro925Thr)
|
rs148884710
|
0.00410
|
NM_000136.3(FANCC):c.*1968G>A
|
rs114827984
|
0.00409
|
NM_001271938.2(MEGF8):c.4440C>T (p.Cys1480=)
|
rs138473998
|
0.00407
|
NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg)
|
rs141287105
|
0.00406
|
NM_017617.5(NOTCH1):c.4823G>A (p.Arg1608His)
|
rs76371972
|
0.00404
|
NM_005236.3(ERCC4):c.1446A>G (p.Glu482=)
|
rs114077770
|
0.00403
|
NM_000141.5(FGFR2):c.*324A>G
|
rs150519853
|
0.00402
|
NM_005445.4(SMC3):c.1680T>C (p.Tyr560=)
|
rs75817442
|
0.00402
|
NM_014918.5(CHSY1):c.1518T>C (p.Phe506=)
|
rs145002451
|
0.00402
|
NM_000136.3(FANCC):c.1329+175C>T
|
rs112446681
|
0.00401
|
NM_017617.5(NOTCH1):c.62-8C>T
|
rs202023246
|
0.00401
|
NM_001113378.2(FANCI):c.1211T>C (p.Ile404Thr)
|
rs79080874
|
0.00400
|
NM_000900.5(MGP):c.*206A>G
|
rs144321187
|
0.00399
|
NM_005592.4(MUSK):c.398T>C (p.Ile133Thr)
|
rs55980069
|
0.00399
|
NM_002465.4(MYBPC1):c.191T>C (p.Val64Ala)
|
rs149213047
|
0.00398
|
NM_017617.5(NOTCH1):c.6870C>T (p.Ser2290=)
|
rs61751488
|
0.00398
|
NM_020937.4(FANCM):c.3040G>T (p.Gly1014Cys)
|
rs77532752
|
0.00398
|
NM_001271938.2(MEGF8):c.352-4G>A
|
rs143955737
|
0.00396
|
NM_032444.4(SLX4):c.4068G>A (p.Pro1356=)
|
rs115491049
|
0.00396
|
NM_032444.4(SLX4):c.336G>A (p.Pro112=)
|
rs79126454
|
0.00393
|
NM_001113378.2(FANCI):c.2832A>C (p.Arg944Ser)
|
rs79685648
|
0.00388
|
NM_001999.4(FBN2):c.5496C>T (p.Arg1832=)
|
rs35346129
|
0.00388
|
NM_147127.5(EVC2):c.3561A>G (p.Lys1187=)
|
rs76523157
|
0.00388
|
NM_020754.4(ARHGAP31):c.1597G>A (p.Gly533Arg)
|
rs75764457
|
0.00387
|
NM_002334.4(LRP4):c.3817C>A (p.Arg1273=)
|
rs61746928
|
0.00385
|
NM_020937.4(FANCM):c.4563A>C (p.Glu1521Asp)
|
rs113986680
|
0.00382
|
NM_181486.4(TBX5):c.331G>T (p.Asp111Tyr)
|
rs77357563
|
0.00382
|
NM_138959.3(VANGL1):c.*3608C>T
|
rs555833838
|
0.00381
|
NM_032444.4(SLX4):c.4600G>A (p.Gly1534Ser)
|
rs78770603
|
0.00380
|
NM_001429.4(EP300):c.2091T>G (p.Ser697Arg)
|
rs61756764
|
0.00379
|
NM_133433.4(NIPBL):c.1965G>T (p.Glu655Asp)
|
rs80358350
|
0.00379
|
NM_017617.5(NOTCH1):c.4536C>T (p.Ala1512=)
|
rs61751540
|
0.00377
|
NM_020639.3(RIPK4):c.*747T>A
|
rs188837957
|
0.00375
|
NM_001793.6(CDH3):c.2058C>T (p.Pro686=)
|
rs116035854
|
0.00373
|
NM_020937.4(FANCM):c.527C>T (p.Thr176Ile)
|
rs77374493
|
0.00371
|
NM_022458.4(LMBR1):c.*2609C>T
|
rs114295738
|
0.00371
|
NM_000751.3(CHRND):c.*1240T>C
|
rs77032539
|
0.00369
|
NM_002465.4(MYBPC1):c.129C>T (p.Ser43=)
|
rs138170393
|
0.00369
|
NM_147127.5(EVC2):c.2047-9A>T
|
rs73198154
|
0.00366
|
NM_147127.5(EVC2):c.3375A>G (p.Ala1125=)
|
rs116076068
|
0.00366
|
NM_133433.4(NIPBL):c.535G>A (p.Ala179Thr)
|
rs142923613
|
0.00365
|
NM_001005361.3(DNM2):c.2543+7C>G
|
rs201979143
|
0.00364
|
NM_002470.4(MYH3):c.4172+9C>T
|
rs116028239
|
0.00364
|
NM_001999.4(FBN2):c.6511+5G>A
|
rs200608284
|
0.00363
|
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys)
|
rs4988345
|
0.00363
|
NM_032444.4(SLX4):c.5029C>T (p.Pro1677Ser)
|
rs7196345
|
0.00363
|
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp)
|
rs17227403
|
0.00362
|
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg)
|
rs1800368
|
0.00361
|
NM_002334.4(LRP4):c.2151C>T (p.Gly717=)
|
rs114920029
|
0.00361
|
NM_138959.3(VANGL1):c.*3742A>T
|
rs115376031
|
0.00360
|
NM_000141.5(FGFR2):c.*184C>T
|
rs4647917
|
0.00359
|
NM_005445.4(SMC3):c.2644+6T>A
|
rs201281088
|
0.00359
|
NM_022725.4(FANCF):c.*461G>T
|
rs45458698
|
0.00359
|
NM_138959.3(VANGL1):c.330C>T (p.Tyr110=)
|
rs41275546
|
0.00358
|
NM_147127.5(EVC2):c.2601C>T (p.Ala867=)
|
rs116514447
|
0.00357
|
NM_147127.5(EVC2):c.707-4G>A
|
rs113806963
|
0.00357
|
NM_003334.4(UBA1):c.2328C>T (p.Tyr776=)
|
rs145177450
|
0.00356
|
NM_001278689.2(EOGT):c.783C>T (p.His261=)
|
rs147327086
|
0.00355
|
NM_018062.4(FANCL):c.670A>G (p.Thr224Ala)
|
rs149731356
|
0.00355
|
NM_032043.3(BRIP1):c.*1263A>G
|
rs73991940
|
0.00355
|
NM_001164508.2(NEB):c.19056G>T (p.Thr6352=)
|
rs115631125
|
0.00354
|
NM_003282.4(TNNI2):c.453+3G>A
|
rs200300133
|
0.00354
|
NM_133433.4(NIPBL):c.6109-3T>C
|
rs145778995
|
0.00354
|
NM_153717.3(EVC):c.1855G>A (p.Val619Ile)
|
rs111293777
|
0.00354
|
NM_001374353.1(GLI2):c.4612T>C (p.Ser1538Pro)
|
rs144372453
|
0.00352
|
NM_000751.3(CHRND):c.1371+7G>T
|
rs188395796
|
0.00350
|
NM_002470.4(MYH3):c.2683-4T>C
|
rs182229640
|
0.00350
|
NM_003282.4(TNNI2):c.*94C>T
|
rs117830156
|
0.00349
|
NM_022458.4(LMBR1):c.*36C>T
|
rs79881605
|
0.00349
|
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr)
|
rs61758784
|
0.00349
|
NM_003334.4(UBA1):c.1702C>G (p.Leu568Val)
|
rs150574055
|
0.00347
|
NM_022458.4(LMBR1):c.*100T>G
|
rs111554843
|
0.00347
|
NM_000141.5(FGFR2):c.-358C>T
|
rs41301545
|
0.00345
|
NM_001018113.3(FANCB):c.1996G>A (p.Gly666Ser)
|
rs145110602
|
0.00343
|
NM_017617.5(NOTCH1):c.2207+10G>A
|
rs191892426
|
0.00343
|
NM_022458.4(LMBR1):c.*3207T>G
|
rs116521088
|
0.00342
|
NM_000135.4(FANCA):c.2216C>T (p.Pro739Leu)
|
rs45441106
|
0.00341
|
NM_017617.5(NOTCH1):c.5073G>A (p.Gln1691=)
|
rs61751538
|
0.00341
|
NM_147127.5(EVC2):c.2029C>A (p.Arg677=)
|
rs73198165
|
0.00341
|
NM_001999.4(FBN2):c.7824C>T (p.Thr2608=)
|
rs28763922
|
0.00339
|
NM_001278689.2(EOGT):c.1237C>T (p.Leu413=)
|
rs115592862
|
0.00337
|
NM_005055.5(RAPSN):c.162G>A (p.Ser54=)
|
rs72905825
|
0.00337
|
NM_005592.4(MUSK):c.320G>A (p.Gly107Glu)
|
rs55786136
|
0.00337
|
NM_020754.4(ARHGAP31):c.820C>T (p.Pro274Ser)
|
rs139600783
|
0.00337
|
NM_000059.4(BRCA2):c.1275A>G (p.Glu425=)
|
rs34355306
|
0.00335
|
NM_000135.4(FANCA):c.932T>C (p.Ile311Thr)
|
rs75501942
|
0.00334
|
NM_005445.4(SMC3):c.*332A>G
|
rs117538515
|
0.00334
|
NM_017617.5(NOTCH1):c.5226C>T (p.Ala1742=)
|
rs116316039
|
0.00334
|
NM_147127.5(EVC2):c.1224C>T (p.Ala408=)
|
rs114629810
|
0.00334
|
NM_032444.4(SLX4):c.1802C>T (p.Ser601Leu)
|
rs59706816
|
0.00333
|
NM_004629.2(FANCG):c.238C>T (p.Leu80=)
|
rs115131067
|
0.00330
|
NM_000900.5(MGP):c.157A>G (p.Lys53Glu)
|
rs1801716
|
0.00329
|
NM_014918.5(CHSY1):c.1325T>C (p.Met442Thr)
|
rs148193087
|
0.00329
|
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn)
|
rs78727187
|
0.00327
|
NM_002334.4(LRP4):c.2506+18G>A
|
rs148998354
|
0.00327
|
NM_006306.4(SMC1A):c.855-15C>T
|
rs147791932
|
0.00326
|
NM_000135.4(FANCA):c.623C>T (p.Ser208Leu)
|
rs144420697
|
0.00325
|
NM_001374353.1(GLI2):c.2037A>G (p.Ala679=)
|
rs146059306
|
0.00325
|
NM_022725.4(FANCF):c.199A>C (p.Arg67=)
|
rs146647469
|
0.00325
|
NM_147127.5(EVC2):c.2621G>A (p.Arg874Gln)
|
rs114764023
|
0.00325
|
NM_000135.4(FANCA):c.1626+16C>T
|
rs1800333
|
0.00322
|
NM_001113378.2(FANCI):c.2883A>G (p.Gln961=)
|
rs11556721
|
0.00322
|
NM_018062.4(FANCL):c.112C>T (p.Leu38Phe)
|
rs55849827
|
0.00322
|
NM_058216.3(RAD51C):c.186A>G (p.Gln62=)
|
rs28363303
|
0.00322
|
NM_004380.3(CREBBP):c.333C>T (p.Asn111=)
|
rs150229705
|
0.00320
|
NM_020937.4(FANCM):c.2190A>G (p.Gln730=)
|
rs117392855
|
0.00320
|
NM_147127.5(EVC2):c.2648C>T (p.Ala883Val)
|
rs140951974
|
0.00320
|
NM_147127.5(EVC2):c.864C>T (p.Asn288=)
|
rs144730069
|
0.00320
|
NM_017617.5(NOTCH1):c.1669+13G>A
|
rs147260092
|
0.00319
|
NM_147127.5(EVC2):c.1471-7T>C
|
rs150842594
|
0.00319
|
NM_006306.4(SMC1A):c.*4887T>C
|
rs142173620
|
0.00318
|
NM_017617.5(NOTCH1):c.2542G>A (p.Glu848Lys)
|
rs35136134
|
0.00318
|
NM_020937.4(FANCM):c.3547T>C (p.Leu1183=)
|
rs142667852
|
0.00318
|
NM_001374353.1(GLI2):c.2211G>T (p.Arg737=)
|
rs142856393
|
0.00317
|
NM_001018115.3(FANCD2):c.1336C>G (p.Leu446Val)
|
rs34557223
|
0.00316
|
NM_002968.3(SALL1):c.472A>G (p.Ser158Gly)
|
rs139646526
|
0.00316
|
NM_020937.4(FANCM):c.4222+7T>G
|
rs148675704
|
0.00316
|
NM_002334.4(LRP4):c.1828C>T (p.Arg610Cys)
|
rs150253578
|
0.00314
|
NM_017617.5(NOTCH1):c.2769A>G (p.Thr923=)
|
rs201985795
|
0.00314
|
NM_005445.4(SMC3):c.92-19A>G
|
rs140102981
|
0.00310
|
NM_032634.4(PIGO):c.2268G>A (p.Ala756=)
|
rs149171782
|
0.00310
|
NM_003722.5(TP63):c.*1939T>G
|
rs567626735
|
0.00308
|
NM_017617.5(NOTCH1):c.4827C>T (p.Asp1609=)
|
rs113634293
|
0.00308
|
NM_002334.4(LRP4):c.1551T>C (p.Ala517=)
|
rs150777198
|
0.00307
|
NM_004380.3(CREBBP):c.2941G>A (p.Ala981Thr)
|
rs61753380
|
0.00307
|
NM_017617.5(NOTCH1):c.5445C>T (p.Asp1815=)
|
rs61751535
|
0.00307
|
NM_032444.4(SLX4):c.4241C>T (p.Pro1414Leu)
|
rs140892471
|
0.00307
|
NM_000751.3(CHRND):c.1105C>T (p.Pro369Ser)
|
rs2229194
|
0.00305
|
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile)
|
rs4988346
|
0.00305
|
NM_000135.4(FANCA):c.857A>G (p.Gln286Arg)
|
rs13336566
|
0.00303
|
NM_032444.4(SLX4):c.3857C>T (p.Ala1286Val)
|
rs149011965
|
0.00302
|
NM_005592.4(MUSK):c.80-8C>T
|
rs199705752
|
0.00301
|
NM_000751.3(CHRND):c.117C>G (p.Asn39Lys)
|
rs77084550
|
0.00300
|
NM_006265.3(RAD21):c.786C>T (p.Asp262=)
|
rs34653007
|
0.00300
|
NM_020937.4(FANCM):c.5577T>C (p.Asn1859=)
|
rs113831595
|
0.00300
|
NM_000141.5(FGFR2):c.1572A>G (p.Thr524=)
|
rs74160613
|
0.00298
|
NM_006265.3(RAD21):c.1515C>G (p.Pro505=)
|
rs9297560
|
0.00298
|
NM_021922.3(FANCE):c.1510-11C>T
|
rs189384185
|
0.00297
|
NM_002470.4(MYH3):c.2926-8C>T
|
rs188588330
|
0.00296
|
NM_181486.4(TBX5):c.*480G>A
|
rs569991822
|
0.00296
|
NM_003722.5(TP63):c.1531C>A (p.Pro511Thr)
|
rs148076109
|
0.00295
|
NM_000141.5(FGFR2):c.-74G>A
|
rs4647922
|
0.00294
|
NM_020754.4(ARHGAP31):c.654C>T (p.Asn218=)
|
rs145326425
|
0.00294
|
NM_147127.5(EVC2):c.1954A>G (p.Ile652Val)
|
rs144670544
|
0.00294
|
NM_002470.4(MYH3):c.4098T>C (p.Asn1366=)
|
rs138944611
|
0.00291
|
NM_017617.5(NOTCH1):c.5384+13C>T
|
rs112582298
|
0.00291
|
NM_002968.3(SALL1):c.1904C>T (p.Pro635Leu)
|
rs146454164
|
0.00290
|
NM_005236.3(ERCC4):c.2724C>T (p.Val908=)
|
rs3136225
|
0.00290
|
NM_020436.5(SALL4):c.2215G>T (p.Ala739Ser)
|
rs41274696
|
0.00290
|
NM_017617.5(NOTCH1):c.5673C>T (p.Ser1891=)
|
rs2229972
|
0.00289
|
NM_017617.5(NOTCH1):c.7338G>A (p.Leu2446=)
|
rs35320927
|
0.00289
|
NM_001429.4(EP300):c.1623-20T>C
|
rs151092312
|
0.00288
|
NM_006306.4(SMC1A):c.*3421G>T
|
rs41304780
|
0.00288
|
NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr)
|
rs28763926
|
0.00287
|
NM_004380.3(CREBBP):c.2572C>T (p.Pro858Ser)
|
rs145733598
|
0.00287
|
NM_005445.4(SMC3):c.255A>G (p.Ser85=)
|
rs146433240
|
0.00287
|
NM_000135.4(FANCA):c.3891G>A (p.Lys1297=)
|
rs17227361
|
0.00286
|
NM_147127.5(EVC2):c.122C>A (p.Pro41His)
|
rs544397395
|
0.00286
|
NM_001374353.1(GLI2):c.2967C>T (p.Gly989=)
|
rs373880077
|
0.00285
|
NM_004629.2(FANCG):c.640C>T (p.Arg214Cys)
|
rs61757385
|
0.00285
|
NM_001271938.2(MEGF8):c.5488+12T>C
|
rs188285054
|
0.00284
|
NM_017617.5(NOTCH1):c.3294C>T (p.Ser1098=)
|
rs61751546
|
0.00283
|
NM_000135.4(FANCA):c.3591G>A (p.Leu1197=)
|
rs55773634
|
0.00282
|
NM_001113378.2(FANCI):c.1573A>G (p.Met525Val)
|
rs144908351
|
0.00282
|
NM_001429.4(EP300):c.2064A>G (p.Leu688=)
|
rs61756763
|
0.00282
|
NM_133433.4(NIPBL):c.3897T>C (p.Leu1299=)
|
rs80358354
|
0.00280
|
NM_001999.4(FBN2):c.*1532G>A
|
rs191801589
|
0.00278
|
NM_013352.4(DSE):c.209G>A (p.Arg70His)
|
rs147683614
|
0.00278
|
NM_032634.4(PIGO):c.461C>A (p.Ala154Asp)
|
rs142562923
|
0.00277
|
NM_000136.3(FANCC):c.584A>T (p.Asp195Val)
|
rs1800365
|
0.00275
|
NM_000141.5(FGFR2):c.170C>T (p.Ser57Leu)
|
rs56226109
|
0.00271
|
NM_003334.4(UBA1):c.346-3C>A
|
rs149947901
|
0.00271
|
NM_005592.4(MUSK):c.1062G>A (p.Thr354=)
|
rs139945437
|
0.00271
|
NM_032043.3(BRIP1):c.2097+7G>A
|
rs4988352
|
0.00271
|
NM_001271938.2(MEGF8):c.6481+11T>G
|
rs138919410
|
0.00270
|
NM_147127.5(EVC2):c.3659+8T>C
|
rs200119306
|
0.00270
|
NM_001374353.1(GLI2):c.148+14C>T
|
rs190309269
|
0.00269
|
NM_020937.4(FANCM):c.2749A>G (p.Ile917Val)
|
rs148871932
|
0.00268
|
NM_004380.3(CREBBP):c.6849C>T (p.Ser2283=)
|
rs148904096
|
0.00267
|
NM_001271938.2(MEGF8):c.5320G>C (p.Glu1774Gln)
|
rs149787596
|
0.00266
|
NM_000751.3(CHRND):c.414C>T (p.Phe138=)
|
rs150208750
|
0.00265
|
NM_017837.4(PIGV):c.*167G>A
|
rs142176099
|
0.00264
|
NM_006306.4(SMC1A):c.*1542T>C
|
rs781783328
|
0.00263
|
NM_001999.4(FBN2):c.4206C>T (p.Asn1402=)
|
rs34201226
|
0.00261
|
NM_001113378.2(FANCI):c.3255+6dup
|
rs878854178
|
0.00258
|
NM_001429.4(EP300):c.5814G>A (p.Thr1938=)
|
rs112948044
|
0.00258
|
NM_001429.4(EP300):c.865A>G (p.Met289Val)
|
rs2230111
|
0.00258
|
NM_006306.4(SMC1A):c.1254+11G>C
|
rs144354524
|
0.00258
|
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_021922.3(FANCE):c.248+7C>A
|
rs186563531
|
0.00255
|
NM_001374353.1(GLI2):c.1751A>G (p.Asn584Ser)
|
rs61732851
|
0.00254
|
NM_001374353.1(GLI2):c.803C>T (p.Ala268Val)
|
rs146992756
|
0.00254
|
NM_020937.4(FANCM):c.4260C>T (p.Asp1420=)
|
rs113819179
|
0.00254
|
NM_003334.4(UBA1):c.2351G>A (p.Arg784Gln)
|
rs148382699
|
0.00253
|
NM_002470.4(MYH3):c.3594G>A (p.Ala1198=)
|
rs139978727
|
0.00252
|
NM_004380.3(CREBBP):c.5052C>T (p.Ser1684=)
|
rs2072381
|
0.00252
|
NM_001113378.2(FANCI):c.2604A>C (p.Glu868Asp)
|
rs118031800
|
0.00251
|
NM_001999.4(FBN2):c.8247A>G (p.Thr2749=)
|
rs116413101
|
0.00251
|
NM_000141.5(FGFR2):c.17G>C (p.Arg6Pro)
|
rs3750819
|
0.00250
|
NM_002470.4(MYH3):c.5109G>A (p.Ala1703=)
|
rs114770362
|
0.00250
|
NM_000192.3(TBX5):c.-664G>A
|
rs186960328
|
0.00248
|
NM_001113378.2(FANCI):c.2997C>T (p.Ser999=)
|
rs138675752
|
0.00248
|
NM_003334.4(UBA1):c.2595A>G (p.Ala865=)
|
rs139492208
|
0.00247
|
NM_000192.3(TBX5):c.-377C>T
|
rs372524573
|
0.00245
|
NM_002470.4(MYH3):c.3409C>T (p.Arg1137Cys)
|
rs12941197
|
0.00245
|
NM_020436.5(SALL4):c.2290T>C (p.Ser764Pro)
|
rs150549656
|
0.00245
|
NM_020937.4(FANCM):c.1040C>T (p.Pro347Leu)
|
rs151071546
|
0.00243
|
NM_173660.5(DOK7):c.1295G>A (p.Arg432Lys)
|
rs145419117
|
0.00243
|
NM_003334.4(UBA1):c.1233+13G>A
|
rs141049438
|
0.00241
|
NM_000557.5(GDF5):c.652A>C (p.Arg218=)
|
rs116467702
|
0.00240
|
NM_001271938.2(MEGF8):c.5721-10T>C
|
rs188531875
|
0.00240
|
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile)
|
rs1800744
|
0.00240
|
NM_000751.3(CHRND):c.862C>G (p.Gln288Glu)
|
rs41265127
|
0.00239
|
NM_000557.5(GDF5):c.*520T>C
|
rs188252641
|
0.00238
|
NM_017617.5(NOTCH1):c.5175C>T (p.Thr1725=)
|
rs61751536
|
0.00238
|
NM_006147.4(IRF6):c.759T>C (p.Tyr253=)
|
rs41303263
|
0.00237
|
NM_173660.5(DOK7):c.904G>C (p.Ala302Pro)
|
rs79063654
|
0.00237
|
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro)
|
rs41281202
|
0.00236
|
NM_000557.5(GDF5):c.462C>A (p.Pro154=)
|
rs150686636
|
0.00236
|
NM_002470.4(MYH3):c.1566C>A (p.Ile522=)
|
rs146873206
|
0.00236
|
NM_017617.5(NOTCH1):c.5988G>A (p.Thr1996=)
|
rs186453356
|
0.00235
|
NM_022458.4(LMBR1):c.*2081G>A
|
rs113867033
|
0.00235
|
NM_000141.5(FGFR2):c.1539C>T (p.Thr513=)
|
rs74160617
|
0.00234
|
NM_001999.4(FBN2):c.*1191C>T
|
rs557229598
|
0.00234
|
NM_001999.4(FBN2):c.*273T>C
|
rs142804569
|
0.00234
|
NM_002334.4(LRP4):c.1191T>C (p.Asn397=)
|
rs73458078
|
0.00233
|
NM_004380.3(CREBBP):c.2973C>T (p.Asp991=)
|
rs142528559
|
0.00233
|
NM_173660.5(DOK7):c.1469C>T (p.Ser490Leu)
|
rs77513082
|
0.00232
|
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser)
|
rs139235751
|
0.00230
|
NM_002465.4(MYBPC1):c.438+9C>G
|
rs186857045
|
0.00230
|
NM_133433.4(NIPBL):c.3502+17A>C
|
rs144725401
|
0.00230
|
NM_133433.4(NIPBL):c.4245A>C (p.Ser1415=)
|
rs138440449
|
0.00229
|
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_001018115.3(FANCD2):c.-6G>C
|
rs3732974
|
0.00227
|
NM_001374353.1(GLI2):c.255-17G>T
|
rs199499256
|
0.00227
|
NM_002470.4(MYH3):c.1411T>C (p.Tyr471His)
|
rs115742228
|
0.00227
|
NM_001429.4(EP300):c.6636G>A (p.Gln2212=)
|
rs142673005
|
0.00225
|
NM_001999.4(FBN2):c.2428+6T>A
|
rs77493726
|
0.00225
|
NM_004380.3(CREBBP):c.6003T>C (p.Asn2001=)
|
rs200998860
|
0.00223
|
NM_014918.5(CHSY1):c.2088G>A (p.Thr696=)
|
rs150245745
|
0.00223
|
NM_001374353.1(GLI2):c.3298G>T (p.Val1100Leu)
|
rs147580961
|
0.00222
|
NM_002334.4(LRP4):c.1494C>T (p.Asn498=)
|
rs61749083
|
0.00221
|
NM_005055.5(RAPSN):c.913-15A>G
|
rs185204384
|
0.00221
|
NM_021922.3(FANCE):c.1310T>C (p.Met437Thr)
|
rs142903218
|
0.00221
|
NM_000079.4(CHRNA1):c.655C>T (p.Leu219=)
|
rs150638770
|
0.00220
|
NM_002472.3(MYH8):c.225G>C (p.Arg75Ser)
|
rs146732664
|
0.00220
|
NM_147127.5(EVC2):c.2151C>T (p.His717=)
|
rs144584049
|
0.00220
|
NM_181486.4(TBX5):c.*121A>G
|
rs112051831
|
0.00220
|
NM_000135.4(FANCA):c.3514-4A>G
|
rs149388130
|
0.00219
|
NM_002470.4(MYH3):c.2289+4A>G
|
rs111835858
|
0.00218
|
NM_004380.3(CREBBP):c.4822C>A (p.Pro1608Thr)
|
rs73491901
|
0.00217
|
NM_004380.3(CREBBP):c.6564G>A (p.Gln2188=)
|
rs73491896
|
0.00217
|
NM_005592.4(MUSK):c.2202C>T (p.Gly734=)
|
rs143701488
|
0.00217
|
NM_005055.5(RAPSN):c.960G>A (p.Gly320=)
|
rs145357531
|
0.00216
|
NM_005236.3(ERCC4):c.1812-5T>C
|
rs2020952
|
0.00215
|
NM_022725.4(FANCF):c.*106T>C
|
rs16909782
|
0.00215
|
NM_022725.4(FANCF):c.786A>G (p.Leu262=)
|
rs11026706
|
0.00215
|
NM_032444.4(SLX4):c.4648C>T (p.Arg1550Trp)
|
rs77021998
|
0.00214
|
NM_001003722.2(GLE1):c.433-15A>C
|
rs752897261
|
0.00213
|
NM_002334.4(LRP4):c.*1151C>T
|
rs116705878
|
0.00213
|
NM_021922.3(FANCE):c.253C>T (p.Pro85Ser)
|
rs145068586
|
0.00212
|
NM_001999.4(FBN2):c.829G>A (p.Val277Ile)
|
rs146849637
|
0.00210
|
NM_138959.3(VANGL1):c.*1043A>G
|
rs150705915
|
0.00210
|
NM_173660.5(DOK7):c.919G>A (p.Ala307Thr)
|
rs150415034
|
0.00210
|
NM_002470.4(MYH3):c.-63G>A
|
rs141754213
|
0.00209
|
NM_005592.4(MUSK):c.666T>C (p.Asn222=)
|
rs56044404
|
0.00208
|
NM_005592.4(MUSK):c.914-14T>G
|
rs146206123
|
0.00207
|
NM_017617.5(NOTCH1):c.4626C>T (p.Asp1542=)
|
rs142375989
|
0.00207
|
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser)
|
rs147241704
|
0.00207
|
NM_147127.5(EVC2):c.18C>T (p.Ser6=)
|
rs556910528
|
0.00207
|
NM_004380.3(CREBBP):c.293G>T (p.Gly98Val)
|
rs141982003
|
0.00206
|
NM_020436.5(SALL4):c.2483C>T (p.Thr828Met)
|
rs147158259
|
0.00206
|
NM_001999.4(FBN2):c.7471+6G>A
|
rs200998513
|
0.00205
|
NM_002470.4(MYH3):c.5067G>T (p.Leu1689=)
|
rs112858125
|
0.00205
|
NM_147127.5(EVC2):c.2883A>C (p.Gly961=)
|
rs149188988
|
0.00205
|
NM_153717.3(EVC):c.939+9C>T
|
rs201282320
|
0.00205
|
NM_002968.3(SALL1):c.379G>C (p.Val127Leu)
|
rs138635817
|
0.00203
|
NM_000135.4(FANCA):c.1830A>G (p.Ala610=)
|
rs1800338
|
0.00201
|
NM_001113378.2(FANCI):c.3592-8T>C
|
rs185599057
|
0.00200
|
NM_001999.4(FBN2):c.738G>A (p.Ala246=)
|
rs150087436
|
0.00200
|
NM_017617.5(NOTCH1):c.7289G>C (p.Gly2430Ala)
|
rs36049318
|
0.00200
|
NM_020436.5(SALL4):c.2038G>A (p.Gly680Ser)
|
rs139022152
|
0.00200
|
NM_138959.3(VANGL1):c.*1772A>G
|
rs114033235
|
0.00199
|
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro)
|
rs4988347
|
0.00197
|
NM_003722.5(TP63):c.399C>T (p.Pro133=)
|
rs145730343
|
0.00196
|
NM_001361.5(DHODH):c.983C>T (p.Pro328Leu)
|
rs79673084
|
0.00195
|
NM_017617.5(NOTCH1):c.2813G>A (p.Arg938Gln)
|
rs35962301
|
0.00195
|
NM_130468.4(CHST14):c.288G>A (p.Arg96=)
|
rs371684007
|
0.00195
|
NM_002470.4(MYH3):c.1932C>T (p.Ser644=)
|
rs115612890
|
0.00194
|
NM_032043.3(BRIP1):c.2937A>G (p.Lys979=)
|
rs75091137
|
0.00194
|
NM_181486.4(TBX5):c.114C>T (p.Ser38=)
|
rs34014008
|
0.00194
|
NM_000141.5(FGFR2):c.-46G>A
|
rs201606812
|
0.00193
|
NM_001271938.2(MEGF8):c.5412G>A (p.Ser1804=)
|
rs139648725
|
0.00193
|
NM_002010.3(FGF9):c.*1266A>G
|
rs370206395
|
0.00192
|
NM_000059.4(BRCA2):c.231T>G (p.Thr77=)
|
rs114446594
|
0.00191
|
NM_005105.5(RBM8A):c.205+17C>A
|
rs115417561
|
0.00191
|
NM_005236.3(ERCC4):c.2117T>C (p.Ile706Thr)
|
rs1800069
|
0.00190
|
NM_181486.4(TBX5):c.*909A>G
|
rs184360838
|
0.00190
|
NM_001113378.2(FANCI):c.2447C>G (p.Ala816Gly)
|
rs151178507
|
0.00188
|
NM_002465.4(MYBPC1):c.420C>T (p.Thr140=)
|
rs140667525
|
0.00188
|
NM_006757.4(TNNT3):c.*36C>T
|
rs147535560
|
0.00188
|
NM_032444.4(SLX4):c.2328-9G>C
|
rs73505419
|
0.00188
|
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys)
|
rs141859946
|
0.00188
|
NM_000141.5(FGFR2):c.2001C>G (p.Val667=)
|
rs61731218
|
0.00187
|
NM_003722.5(TP63):c.*2477T>G
|
rs186295449
|
0.00187
|
NM_000141.5(FGFR2):c.1673-12C>T
|
rs41293763
|
0.00186
|
NM_133433.4(NIPBL):c.4320+14A>G
|
rs377381536
|
0.00186
|
NM_133433.4(NIPBL):c.7830G>C (p.Val2610=)
|
rs115668015
|
0.00186
|
NM_000079.4(CHRNA1):c.621C>T (p.Ser207=)
|
rs74533173
|
0.00185
|
NM_022725.4(FANCF):c.246C>T (p.Asn82=)
|
rs139724351
|
0.00185
|
NM_000135.4(FANCA):c.694A>C (p.Arg232=)
|
rs61757384
|
0.00184
|
NM_006306.4(SMC1A):c.1323C>T (p.Tyr441=)
|
rs144850468
|
0.00183
|
NM_006306.4(SMC1A):c.3450C>T (p.Ala1150=)
|
rs142611198
|
0.00183
|
NM_017617.5(NOTCH1):c.4887C>T (p.His1629=)
|
rs61751539
|
0.00182
|
NM_001374353.1(GLI2):c.3477G>T (p.Gln1159His)
|
rs139686081
|
0.00181
|
NM_173660.5(DOK7):c.1278C>T (p.Pro426=)
|
rs139468087
|
0.00181
|
NM_001999.4(FBN2):c.5353+19C>T
|
rs183524866
|
0.00179
|
NM_001999.4(FBN2):c.6551A>T (p.Asn2184Ile)
|
rs149071226
|
0.00178
|
NM_014918.5(CHSY1):c.39G>A (p.Leu13=)
|
rs764100516
|
0.00178
|
NM_017617.5(NOTCH1):c.2124C>T (p.Tyr708=)
|
rs376744729
|
0.00178
|
NM_020937.4(FANCM):c.5808C>T (p.Ser1936=)
|
rs142333130
|
0.00178
|
NM_133433.4(NIPBL):c.65-17G>C
|
rs201348552
|
0.00178
|
NM_001271938.2(MEGF8):c.7041C>T (p.Asp2347=)
|
rs145886667
|
0.00177
|
NM_001374353.1(GLI2):c.1935G>A (p.Ser645=)
|
rs114259687
|
0.00177
|
NM_004380.3(CREBBP):c.1149G>A (p.Pro383=)
|
rs61759495
|
0.00177
|
NM_000751.3(CHRND):c.1530C>T (p.Asn510=)
|
rs114463490
|
0.00175
|
NM_001999.4(FBN2):c.7593A>G (p.Lys2531=)
|
rs28763923
|
0.00175
|
NM_004629.2(FANCG):c.1638T>C (p.Gly546=)
|
rs45537335
|
0.00175
|
NM_014918.5(CHSY1):c.1176C>T (p.Pro392=)
|
rs147287474
|
0.00175
|
NM_017617.5(NOTCH1):c.3315G>T (p.Ala1105=)
|
rs3812602
|
0.00175
|
NM_018062.4(FANCL):c.963T>A (p.Asp321Glu)
|
rs140088149
|
0.00173
|
NM_020754.4(ARHGAP31):c.349-7T>G
|
rs200397968
|
0.00173
|
NM_032043.3(BRIP1):c.2286T>C (p.Arg762=)
|
rs61754141
|
0.00173
|
NM_000135.4(FANCA):c.3198T>C (p.Ala1066=)
|
rs17227071
|
0.00172
|
NM_001429.4(EP300):c.5259C>T (p.Cys1753=)
|
rs148040990
|
0.00172
|
NM_020754.4(ARHGAP31):c.1618A>G (p.Lys540Glu)
|
rs61744410
|
0.00172
|
NM_000900.5(MGP):c.23C>T (p.Ala8Val)
|
rs142330429
|
0.00171
|
NM_017617.5(NOTCH1):c.4028C>T (p.Ala1343Val)
|
rs183156491
|
0.00171
|
NM_153717.3(EVC):c.934G>A (p.Asp312Asn)
|
rs115275195
|
0.00171
|
NM_138959.3(VANGL1):c.*922C>T
|
rs142123586
|
0.00170
|
NM_173660.5(DOK7):c.921C>T (p.Ala307=)
|
rs138148221
|
0.00170
|
NM_000135.4(FANCA):c.3584G>A (p.Arg1195Gln)
|
rs138013482
|
0.00166
|
NM_000135.4(FANCA):c.1360-10C>G
|
rs150836356
|
0.00165
|
NM_147127.5(EVC2):c.2487G>A (p.Glu829=)
|
rs16837501
|
0.00165
|
NM_000141.5(FGFR2):c.*111G>A
|
rs574474794
|
0.00164
|
NM_000900.5(MGP):c.*27T>G
|
rs80337043
|
0.00164
|
NM_013352.4(DSE):c.216G>A (p.Thr72=)
|
rs61747210
|
0.00164
|
NM_000135.4(FANCA):c.1471-12A>G
|
rs9282684
|
0.00163
|
NM_000900.5(MGP):c.*339T>C
|
rs150038879
|
0.00163
|
NM_001018115.3(FANCD2):c.3560+20C>T
|
rs55804542
|
0.00162
|
NM_003334.4(UBA1):c.2004-13C>T
|
rs201794720
|
0.00162
|
NM_147127.5(EVC2):c.1471-6C>T
|
rs115466792
|
0.00162
|
NM_002334.4(LRP4):c.*1627A>G
|
rs544836196
|
0.00160
|
NM_000141.5(FGFR2):c.*1301C>T
|
rs71640261
|
0.00159
|
NM_003722.5(TP63):c.*2123C>T
|
rs36064124
|
0.00159
|
NM_001429.4(EP300):c.678C>G (p.Gly226=)
|
rs147244947
|
0.00158
|
NM_001999.4(FBN2):c.2940C>T (p.Cys980=)
|
rs143255082
|
0.00158
|
NM_001999.4(FBN2):c.5448A>G (p.Pro1816=)
|
rs138022198
|
0.00158
|
NM_002470.4(MYH3):c.3078C>T (p.Ser1026=)
|
rs146309217
|
0.00158
|
NM_005445.4(SMC3):c.*297T>A
|
rs188322637
|
0.00157
|
NM_002470.4(MYH3):c.252G>A (p.Lys84=)
|
rs147410236
|
0.00156
|
NM_017617.5(NOTCH1):c.263G>A (p.Ser88Asn)
|
rs191357265
|
0.00156
|
NM_018062.4(FANCL):c.817T>C (p.Leu273=)
|
rs61753272
|
0.00156
|
NM_000136.3(FANCC):c.-29A>C
|
rs4647414
|
0.00155
|
NM_000557.5(GDF5):c.-134C>G
|
rs144924248
|
0.00155
|
NM_001113378.2(FANCI):c.2487T>G (p.Leu829=)
|
rs145762491
|
0.00155
|
NM_000136.3(FANCC):c.840G>A (p.Ser280=)
|
rs34671520
|
0.00154
|
NM_138959.3(VANGL1):c.323A>G (p.Lys108Arg)
|
rs141673853
|
0.00154
|
NM_001271938.2(MEGF8):c.7731C>T (p.Tyr2577=)
|
rs3745237
|
0.00153
|
NM_022458.4(LMBR1):c.*1357A>G
|
rs568810522
|
0.00153
|
NM_023110.3(FGFR1):c.336C>T (p.Thr112=)
|
rs148480919
|
0.00153
|
NM_032043.3(BRIP1):c.2061G>C (p.Val687=)
|
rs112414873
|
0.00153
|
NM_138959.3(VANGL1):c.*383C>G
|
rs75277108
|
0.00153
|
NM_173660.5(DOK7):c.532+18G>A
|
rs200487431
|
0.00153
|
NM_000141.5(FGFR2):c.454+14C>T
|
rs112142377
|
0.00152
|
NM_001999.4(FBN2):c.953-8T>G
|
rs201818403
|
0.00152
|
NM_002470.4(MYH3):c.5390G>A (p.Arg1797His)
|
rs138194008
|
0.00152
|
NM_002010.3(FGF9):c.327C>T (p.Gly109=)
|
rs34748315
|
0.00151
|
NM_001113378.2(FANCI):c.3865A>G (p.Ile1289Val)
|
rs114549781
|
0.00150
|
NM_001429.4(EP300):c.4311A>C (p.Ala1437=)
|
rs150941761
|
0.00150
|
NM_153717.3(EVC):c.1333A>C (p.Lys445Gln)
|
rs116952023
|
0.00150
|
NM_147127.5(EVC2):c.2394G>A (p.Arg798=)
|
rs147173201
|
0.00149
|
NM_147127.5(EVC2):c.2395G>C (p.Asp799His)
|
rs143491078
|
0.00149
|
NM_017617.5(NOTCH1):c.1122C>T (p.Asp374=)
|
rs192683347
|
0.00148
|
NM_022458.4(LMBR1):c.*2926G>C
|
rs148658727
|
0.00148
|
NM_032444.4(SLX4):c.3109T>C (p.Leu1037=)
|
rs58735123
|
0.00148
|
NM_001113378.2(FANCI):c.2817G>T (p.Lys939Asn)
|
rs145192583
|
0.00147
|
NM_017617.5(NOTCH1):c.4056C>T (p.Cys1352=)
|
rs200099319
|
0.00147
|
NM_020937.4(FANCM):c.1041G>A (p.Pro347=)
|
rs140998495
|
0.00147
|
NM_133433.4(NIPBL):c.294C>T (p.Ala98=)
|
rs142184978
|
0.00147
|
NM_002010.3(FGF9):c.-414C>T
|
rs187418449
|
0.00146
|
NM_002465.4(MYBPC1):c.*19+3A>G
|
rs2303628
|
0.00146
|
NM_020436.5(SALL4):c.2376T>C (p.Asn792=)
|
rs143601538
|
0.00146
|
NM_020436.5(SALL4):c.529G>A (p.Ala177Thr)
|
rs145275500
|
0.00146
|
NM_147127.5(EVC2):c.3411C>T (p.Ala1137=)
|
rs144532809
|
0.00146
|
NM_001271938.2(MEGF8):c.6641+9G>A
|
rs112519292
|
0.00145
|
NM_017617.5(NOTCH1):c.52G>A (p.Ala18Thr)
|
rs754613772
|
0.00145
|
NM_181486.4(TBX5):c.*524A>T
|
rs76799455
|
0.00145
|
NM_004380.3(CREBBP):c.4133+19T>C
|
rs202204380
|
0.00143
|
NM_006757.4(TNNT3):c.480+10G>T
|
rs188255267
|
0.00143
|
NM_032634.4(PIGO):c.2166G>C (p.Ala722=)
|
rs147101825
|
0.00143
|
NM_181486.4(TBX5):c.804C>G (p.Ala268=)
|
rs35110399
|
0.00143
|
NM_001429.4(EP300):c.6210G>A (p.Val2070=)
|
rs11912899
|
0.00142
|
NM_002968.3(SALL1):c.3942C>T (p.Phe1314=)
|
rs189411650
|
0.00141
|
NM_005431.2(XRCC2):c.40-16T>C
|
rs41274991
|
0.00141
|
NM_032444.4(SLX4):c.4024A>G (p.Ser1342Gly)
|
rs140051968
|
0.00141
|
NM_002968.3(SALL1):c.264C>T (p.Ser88=)
|
rs143501736
|
0.00140
|
NM_004629.2(FANCG):c.646+12A>G
|
rs17878604
|
0.00139
|
NM_017617.5(NOTCH1):c.2207+16G>A
|
rs200956009
|
0.00139
|
NM_001429.4(EP300):c.1878+9C>G
|
rs186198699
|
0.00138
|
NM_004629.2(FANCG):c.20C>T (p.Ser7Phe)
|
rs35984312
|
0.00138
|
NM_005592.4(MUSK):c.79+11G>A
|
rs139516442
|
0.00138
|
NM_000135.4(FANCA):c.2977C>A (p.Gln993Lys)
|
rs140823801
|
0.00137
|
NM_001999.4(FBN2):c.2555-7A>G
|
rs28763949
|
0.00137
|
NM_002470.4(MYH3):c.3479C>T (p.Thr1160Met)
|
rs145080512
|
0.00137
|
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp)
|
rs1800709
|
0.00137
|
NM_001198800.3(ASCC1):c.869A>G (p.Asn290Ser)
|
rs146370051
|
0.00135
|
NM_001429.4(EP300):c.5061+10G>A
|
rs78432056
|
0.00135
|
NM_001999.4(FBN2):c.4595-11G>C
|
rs199640787
|
0.00135
|
NM_005445.4(SMC3):c.2934G>A (p.Lys978=)
|
rs147463420
|
0.00135
|
NM_000141.5(FGFR2):c.939+11T>C
|
rs145303463
|
0.00134
|
NM_001999.4(FBN2):c.8364+7A>T
|
rs185052980
|
0.00134
|
NM_017617.5(NOTCH1):c.3511-10G>A
|
rs139838537
|
0.00134
|
NM_001999.4(FBN2):c.5675-12_5675-11insG
|
rs150372632
|
0.00133
|
NM_017617.5(NOTCH1):c.865+18C>T
|
rs55677618
|
0.00133
|
NM_005445.4(SMC3):c.2329T>C (p.Leu777=)
|
rs76625999
|
0.00132
|
NM_001113378.2(FANCI):c.3660T>C (p.Ser1220=)
|
rs116380142
|
0.00131
|
NM_000141.5(FGFR2):c.-61G>T
|
rs3135721
|
0.00130
|
NM_006306.4(SMC1A):c.1545+4A>C
|
rs377270943
|
0.00129
|
NM_147127.5(EVC2):c.1823G>A (p.Arg608His)
|
rs145693546
|
0.00129
|
NM_005592.4(MUSK):c.486+7G>C
|
rs187497836
|
0.00128
|
NM_138959.3(VANGL1):c.523C>T (p.Arg175Trp)
|
rs142594314
|
0.00128
|
NM_002334.4(LRP4):c.4674C>T (p.His1558=)
|
rs61742905
|
0.00127
|
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg)
|
rs140781259
|
0.00126
|
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu)
|
rs149112292
|
0.00125
|
NM_003334.4(UBA1):c.480+19C>G
|
rs200340536
|
0.00125
|
NM_005592.4(MUSK):c.1361-12T>C
|
rs115337040
|
0.00125
|
NM_032444.4(SLX4):c.2359G>A (p.Glu787Lys)
|
rs140600202
|
0.00125
|
NM_001018115.3(FANCD2):c.983G>A (p.Arg328Gln)
|
rs35625434
|
0.00124
|
NM_001113378.2(FANCI):c.3925-14C>G
|
rs148365638
|
0.00124
|
NM_001271938.2(MEGF8):c.4504-14G>A
|
rs111624233
|
0.00124
|
NM_001374353.1(GLI2):c.1243G>A (p.Val415Met)
|
rs142296407
|
0.00124
|
NM_004380.3(CREBBP):c.5436C>G (p.Thr1812=)
|
rs61731405
|
0.00124
|
NM_005445.4(SMC3):c.1671-6A>G
|
rs200848781
|
0.00124
|
NM_014918.5(CHSY1):c.975C>T (p.Ser325=)
|
rs142783588
|
0.00124
|
NM_020436.5(SALL4):c.1557C>T (p.Pro519=)
|
rs75554760
|
0.00124
|
NM_005445.4(SMC3):c.*329C>T
|
rs182524436
|
0.00123
|
NM_020436.5(SALL4):c.1950C>T (p.Gly650=)
|
rs149008635
|
0.00121
|
NM_153717.3(EVC):c.89C>T (p.Pro30Leu)
|
rs886044558
|
0.00121
|
NM_001374353.1(GLI2):c.1662C>T (p.Cys554=)
|
rs143055766
|
0.00120
|
NM_001999.4(FBN2):c.255-18C>A
|
rs200300875
|
0.00120
|
NM_001999.4(FBN2):c.8304C>T (p.Asn2768=)
|
rs28763920
|
0.00120
|
NM_018486.3(HDAC8):c.57C>T (p.Ile19=)
|
rs145362166
|
0.00120
|
NM_018668.5(VPS33B):c.357G>A (p.Lys119=)
|
rs146758743
|
0.00120
|
NM_020436.5(SALL4):c.1353C>T (p.Ala451=)
|
rs140110863
|
0.00120
|
NM_002968.3(SALL1):c.3794G>A (p.Gly1265Glu)
|
rs149302006
|
0.00118
|
NM_001999.4(FBN2):c.1592G>C (p.Gly531Ala)
|
rs34450503
|
0.00117
|
NM_004380.3(CREBBP):c.3831C>T (p.Pro1277=)
|
rs141869477
|
0.00117
|
NM_018668.5(VPS33B):c.-7C>G
|
rs2289617
|
0.00117
|
NM_000135.4(FANCA):c.115A>C (p.Arg39=)
|
rs17232091
|
0.00116
|
NM_004380.3(CREBBP):c.1574-12C>T
|
rs185243405
|
0.00116
|
NM_004380.3(CREBBP):c.4350C>T (p.Tyr1450=)
|
rs144832179
|
0.00116
|
NM_017617.5(NOTCH1):c.2970-20G>A
|
rs367927174
|
0.00116
|
NM_001999.4(FBN2):c.4791C>T (p.Ile1597=)
|
rs147040906
|
0.00115
|
NM_022458.4(LMBR1):c.*1359G>A
|
rs565001458
|
0.00115
|
NM_023110.3(FGFR1):c.449-9C>G
|
rs17182303
|
0.00115
|
NM_032444.4(SLX4):c.590T>C (p.Val197Ala)
|
rs147826749
|
0.00115
|
NM_032444.4(SLX4):c.3676C>T (p.Arg1226Trp)
|
rs142008398
|
0.00114
|
NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr)
|
rs199990883
|
0.00113
|
NM_020754.4(ARHGAP31):c.936T>C (p.Arg312=)
|
rs200813566
|
0.00113
|
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg)
|
rs28997570
|
0.00113
|
NM_173660.5(DOK7):c.831C>T (p.Ala277=)
|
rs150549589
|
0.00113
|
NM_001429.4(EP300):c.5147G>C (p.Ser1716Thr)
|
rs147676363
|
0.00112
|
NM_032444.4(SLX4):c.4479G>A (p.Ser1493=)
|
rs150097733
|
0.00112
|
NM_058216.3(RAD51C):c.837+13T>C
|
rs188613030
|
0.00112
|
NM_001330677.2(TBX15):c.861+14C>G
|
rs192074581
|
0.00111
|
NM_001429.4(EP300):c.1686A>C (p.Pro562=)
|
rs144993798
|
0.00111
|
NM_002465.4(MYBPC1):c.1250G>A (p.Arg417Lys)
|
rs138048478
|
0.00111
|
NM_014918.5(CHSY1):c.534A>G (p.Gly178=)
|
rs3743192
|
0.00111
|
NM_130468.4(CHST14):c.210C>T (p.Pro70=)
|
rs191997027
|
0.00111
|
NM_000135.4(FANCA):c.80-13C>T
|
rs189841793
|
0.00110
|
NM_001999.4(FBN2):c.110C>A (p.Pro37Gln)
|
rs201255083
|
0.00110
|
NM_001999.4(FBN2):c.5353+10C>T
|
rs113589974
|
0.00110
|
NM_017617.5(NOTCH1):c.1511G>A (p.Arg504His)
|
rs201768800
|
0.00110
|
NM_018062.4(FANCL):c.402T>C (p.Ser134=)
|
rs145284589
|
0.00110
|
NM_020436.5(SALL4):c.2166A>G (p.Leu722=)
|
rs141708963
|
0.00110
|
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser)
|
rs142959373
|
0.00109
|
NM_002334.4(LRP4):c.430+15C>T
|
rs199835230
|
0.00108
|
NM_005592.4(MUSK):c.1941C>T (p.Val647=)
|
rs200312379
|
0.00108
|
NM_017617.5(NOTCH1):c.6105C>T (p.Ala2035=)
|
rs188357478
|
0.00108
|
NM_000141.5(FGFR2):c.23T>G (p.Ile8Ser)
|
rs147307031
|
0.00107
|
NM_001999.4(FBN2):c.4100-9G>T
|
rs377002313
|
0.00106
|
NM_001999.4(FBN2):c.4949-18C>G
|
rs372234336
|
0.00106
|
NM_005592.4(MUSK):c.1683G>A (p.Leu561=)
|
rs192173278
|
0.00105
|
NM_020754.4(ARHGAP31):c.2359C>G (p.Pro787Ala)
|
rs186621177
|
0.00105
|
NM_058216.3(RAD51C):c.195A>G (p.Arg65=)
|
rs45511291
|
0.00105
|
NM_147127.5(EVC2):c.2707-13A>T
|
rs146588799
|
0.00105
|
NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp)
|
rs28997569
|
0.00104
|
NM_130468.4(CHST14):c.807T>C (p.Asp269=)
|
rs139229738
|
0.00104
|
NM_001018115.3(FANCD2):c.491+10G>A
|
rs17032279
|
0.00103
|
NM_004380.3(CREBBP):c.5829G>A (p.Pro1943=)
|
rs546554430
|
0.00103
|
NM_004380.3(CREBBP):c.7302G>A (p.Thr2434=)
|
rs144609433
|
0.00103
|
NM_017617.5(NOTCH1):c.2604C>T (p.Val868=)
|
rs115235667
|
0.00103
|
NM_001999.4(FBN2):c.3144C>T (p.Tyr1048=)
|
rs1801167
|
0.00102
|
NM_001999.4(FBN2):c.3351C>T (p.Asp1117=)
|
rs78484531
|
0.00102
|
NM_001999.4(FBN2):c.6655A>G (p.Ile2219Val)
|
rs140821039
|
0.00102
|
NM_004380.3(CREBBP):c.2678C>T (p.Ser893Leu)
|
rs142047649
|
0.00102
|
NM_001374353.1(GLI2):c.4446T>C (p.Thr1482=)
|
rs151090814
|
0.00101
|
NM_001999.4(FBN2):c.4222+12A>G
|
rs79445561
|
0.00101
|
NM_133433.4(NIPBL):c.2256A>G (p.Glu752=)
|
rs148075057
|
0.00101
|
NM_001429.4(EP300):c.6969C>G (p.Pro2323=)
|
rs111489369
|
0.00100
|
NM_001999.4(FBN2):c.3767A>G (p.Gln1256Arg)
|
rs139052603
|
0.00100
|
NM_001374353.1(GLI2):c.1808C>T (p.Thr603Met)
|
rs142775128
|
0.00099
|
NM_003289.4(TPM2):c.564-18dup
|
rs776086128
|
0.00099
|
NM_005592.4(MUSK):c.1026G>A (p.Ala342=)
|
rs200434321
|
0.00098
|
NM_001271938.2(MEGF8):c.918C>T (p.Asp306=)
|
rs373759775
|
0.00097
|
NM_001999.4(FBN2):c.3273T>C (p.Asn1091=)
|
rs116741030
|
0.00096
|
NM_002010.3(FGF9):c.*355C>G
|
rs147999718
|
0.00096
|
NM_002470.4(MYH3):c.2883C>A (p.Thr961=)
|
rs144338240
|
0.00096
|
NM_002470.4(MYH3):c.4082C>T (p.Ala1361Val)
|
rs140218185
|
0.00096
|
NM_020436.5(SALL4):c.1497G>T (p.Thr499=)
|
rs148435082
|
0.00096
|
NM_003334.4(UBA1):c.909+12G>A
|
rs367556596
|
0.00095
|
NM_012243.3(SLC35A3):c.531G>C (p.Met177Ile)
|
rs151009402
|
0.00095
|
NM_020754.4(ARHGAP31):c.2364A>T (p.Pro788=)
|
rs61746581
|
0.00095
|
NM_032634.4(PIGO):c.2124G>A (p.Leu708=)
|
rs201657672
|
0.00095
|
NM_133433.4(NIPBL):c.1985A>G (p.Lys662Arg)
|
rs140100861
|
0.00095
|
NM_001374353.1(GLI2):c.129A>C (p.Ala43=)
|
rs201041526
|
0.00094
|
NM_002334.4(LRP4):c.4951+10A>G
|
rs371455422
|
0.00093
|
NM_002968.3(SALL1):c.411C>T (p.Ser137=)
|
rs151051011
|
0.00093
|
NM_017617.5(NOTCH1):c.2049G>A (p.Ala683=)
|
rs61751553
|
0.00093
|
NM_022458.4(LMBR1):c.*1061A>G
|
rs138905233
|
0.00093
|
NM_153717.3(EVC):c.2707A>G (p.Ile903Val)
|
rs143678893
|
0.00093
|
NM_001429.4(EP300):c.6675G>A (p.Gln2225=)
|
rs147880144
|
0.00092
|
NM_002470.4(MYH3):c.642+10G>A
|
rs183463746
|
0.00092
|
NM_020937.4(FANCM):c.1397-12A>G
|
rs560956489
|
0.00092
|
NM_023110.3(FGFR1):c.1081+20C>T
|
rs17175982
|
0.00092
|
NM_005236.3(ERCC4):c.974-6T>C
|
rs201181735
|
0.00091
|
NM_014918.5(CHSY1):c.1725C>T (p.Asp575=)
|
rs151237975
|
0.00091
|
NM_017837.4(PIGV):c.*149G>A
|
rs3754360
|
0.00091
|
NM_147127.5(EVC2):c.2244C>T (p.Thr748=)
|
rs146588335
|
0.00090
|
NM_000135.4(FANCA):c.237C>T (p.Asp79=)
|
rs144151341
|
0.00089
|
NM_001346754.2(PIGW):c.253G>A (p.Gly85Ser)
|
rs117789606
|
0.00089
|
NM_001999.4(FBN2):c.-269A>G
|
rs149771492
|
0.00089
|
NM_002968.3(SALL1):c.1878G>C (p.Glu626Asp)
|
rs80248061
|
0.00089
|
NM_005592.4(MUSK):c.358+20G>A
|
rs144807641
|
0.00089
|
NM_014918.5(CHSY1):c.1602A>T (p.Ile534=)
|
rs146586939
|
0.00089
|
NM_003334.4(UBA1):c.117+9C>T
|
rs371344095
|
0.00088
|
NM_020639.3(RIPK4):c.303G>A (p.Thr101=)
|
rs2277792
|
0.00088
|
NM_032043.3(BRIP1):c.*3450T>C
|
rs74859843
|
0.00088
|
NM_001999.4(FBN2):c.*514A>C
|
rs551470283
|
0.00087
|
NM_032444.4(SLX4):c.1372A>G (p.Lys458Glu)
|
rs149126845
|
0.00087
|
NM_001374353.1(GLI2):c.2199T>G (p.Thr733=)
|
rs146909860
|
0.00086
|
NM_001374353.1(GLI2):c.291C>T (p.Asp97=)
|
rs199671413
|
0.00086
|
NM_001793.6(CDH3):c.141C>G (p.Pro47=)
|
rs74619658
|
0.00086
|
NM_005105.5(RBM8A):c.318C>T (p.Leu106=)
|
rs139097271
|
0.00086
|
NM_017617.5(NOTCH1):c.1650C>T (p.Tyr550=)
|
rs371634784
|
0.00086
|
NM_181486.4(TBX5):c.316A>G (p.Ile106Val)
|
rs147710408
|
0.00086
|
NM_001429.4(EP300):c.4779+18A>G
|
rs146245982
|
0.00084
|
NM_000135.4(FANCA):c.3524C>T (p.Pro1175Leu)
|
rs147017625
|
0.00083
|
NM_001429.4(EP300):c.2998-14dup
|
rs560058125
|
0.00083
|
NM_001429.4(EP300):c.3143-9T>C
|
rs199773872
|
0.00083
|
NM_001999.4(FBN2):c.3974-19T>C
|
rs112950479
|
0.00083
|
NM_021922.3(FANCE):c.266G>T (p.Arg89Leu)
|
rs45600543
|
0.00083
|
NM_138959.3(VANGL1):c.274A>G (p.Ile92Val)
|
rs143196463
|
0.00083
|
NM_147127.5(EVC2):c.904T>A (p.Phe302Ile)
|
rs138728350
|
0.00083
|
NM_147127.5(EVC2):c.913G>T (p.Ala305Ser)
|
rs150367317
|
0.00083
|
NM_003722.5(TP63):c.1587C>T (p.Leu529=)
|
rs141847552
|
0.00082
|
NM_138959.3(VANGL1):c.*5808C>T
|
rs184708484
|
0.00082
|
NM_001999.4(FBN2):c.2427T>A (p.Ile809=)
|
rs139686090
|
0.00081
|
NM_017617.5(NOTCH1):c.1440C>T (p.Pro480=)
|
rs61751555
|
0.00080
|
NM_002334.4(LRP4):c.4951+13G>C
|
rs367744491
|
0.00079
|
NM_002465.4(MYBPC1):c.-13T>C
|
rs368264809
|
0.00079
|
NM_017617.5(NOTCH1):c.2080G>A (p.Glu694Lys)
|
rs79782048
|
0.00079
|
NM_023110.3(FGFR1):c.1098G>A (p.Pro366=)
|
rs56174879
|
0.00079
|
NM_032043.3(BRIP1):c.2257+19A>C
|
rs77851913
|
0.00079
|
NM_153717.3(EVC):c.1770C>T (p.Asp590=)
|
rs141755737
|
0.00079
|
NM_032043.3(BRIP1):c.918+15T>A
|
rs117820198
|
0.00078
|
NM_032444.4(SLX4):c.2786C>T (p.Pro929Leu)
|
rs117707719
|
0.00078
|
NM_002334.4(LRP4):c.1005C>T (p.Asn335=)
|
rs141757569
|
0.00077
|
NM_022458.4(LMBR1):c.*2065A>G
|
rs146931391
|
0.00077
|
NM_022458.4(LMBR1):c.843G>A (p.Arg281=)
|
rs140806590
|
0.00077
|
NM_133433.4(NIPBL):c.6057C>T (p.Leu2019=)
|
rs140907869
|
0.00077
|
NM_001999.4(FBN2):c.4647C>T (p.Asn1549=)
|
rs146662880
|
0.00076
|
NM_002334.4(LRP4):c.141C>G (p.Ala47=)
|
rs543418199
|
0.00076
|
NM_002334.4(LRP4):c.387C>T (p.Cys129=)
|
rs80333596
|
0.00076
|
NM_032043.3(BRIP1):c.195A>G (p.Gln65=)
|
rs141436143
|
0.00076
|
NM_032043.3(BRIP1):c.3378A>C (p.Glu1126Asp)
|
rs145855459
|
0.00076
|
NM_133433.4(NIPBL):c.2349A>G (p.Lys783=)
|
rs141851878
|
0.00076
|
NM_000079.4(CHRNA1):c.189+12G>A
|
rs201168898
|
0.00075
|
NM_001018115.3(FANCD2):c.78A>C (p.Gln26His)
|
rs45510294
|
0.00075
|
NM_001374353.1(GLI2):c.1533C>T (p.Thr511=)
|
rs137960978
|
0.00075
|
NM_002010.3(FGF9):c.-712C>T
|
rs376388740
|
0.00075
|
NM_000136.3(FANCC):c.816C>T (p.Ile272=)
|
rs55719336
|
0.00074
|
NM_017617.5(NOTCH1):c.368C>T (p.Thr123Met)
|
rs187473846
|
0.00074
|
NM_058216.3(RAD51C):c.146-8A>G
|
rs201079501
|
0.00074
|
NM_001374353.1(GLI2):c.1080G>A (p.Ser360=)
|
rs149110951
|
0.00073
|
NM_001374353.1(GLI2):c.3979C>T (p.Leu1327=)
|
rs149290823
|
0.00073
|
NM_005445.4(SMC3):c.276T>C (p.Asp92=)
|
rs199936534
|
0.00073
|
NM_017617.5(NOTCH1):c.1962C>T (p.Thr654=)
|
rs61751554
|
0.00073
|
NM_020436.5(SALL4):c.349G>A (p.Gly117Arg)
|
rs77538589
|
0.00073
|
NM_000135.4(FANCA):c.4332T>G (p.Pro1444=)
|
rs149531696
|
0.00072
|
NM_001429.4(EP300):c.2576T>C (p.Ile859Thr)
|
rs145714752
|
0.00072
|
NM_023110.3(FGFR1):c.1855-16C>T
|
rs371160786
|
0.00071
|
NM_001018115.3(FANCD2):c.577A>G (p.Thr193Ala)
|
rs34936017
|
0.00070
|
NM_001429.4(EP300):c.1519A>G (p.Ser507Gly)
|
rs146242251
|
0.00070
|
NM_004380.3(CREBBP):c.1216+20C>A
|
rs200567815
|
0.00070
|
NM_004380.3(CREBBP):c.3698+7G>A
|
rs374345970
|
0.00070
|
NM_017617.5(NOTCH1):c.3401A>G (p.Gln1134Arg)
|
rs374230681
|
0.00070
|
NM_017617.5(NOTCH1):c.5500C>T (p.Leu1834=)
|
rs73668312
|
0.00070
|
NM_004380.3(CREBBP):c.383C>G (p.Ser128Cys)
|
rs55790011
|
0.00069
|
NM_017617.5(NOTCH1):c.3384G>A (p.Thr1128=)
|
rs200608278
|
0.00069
|
NM_022458.4(LMBR1):c.16G>A (p.Glu6Lys)
|
rs139646169
|
0.00069
|
NM_032043.3(BRIP1):c.3459T>C (p.Asp1153=)
|
rs4987050
|
0.00069
|
NM_001018113.3(FANCB):c.*33T>C
|
rs187611308
|
0.00068
|
NM_001429.4(EP300):c.4599C>G (p.Thr1533=)
|
rs143885808
|
0.00068
|
NM_001429.4(EP300):c.5271C>T (p.Ser1757=)
|
rs138917060
|
0.00068
|
NM_001999.4(FBN2):c.436+16G>A
|
rs372098570
|
0.00068
|
NM_006265.3(RAD21):c.1471-11A>G
|
rs112473657
|
0.00068
|
NM_017617.5(NOTCH1):c.1669+15C>T
|
rs576849563
|
0.00068
|
NM_001018115.3(FANCD2):c.2269+12A>G
|
rs34751191
|
0.00067
|
NM_001999.4(FBN2):c.*119C>T
|
rs3805618
|
0.00067
|
NM_001999.4(FBN2):c.132G>C (p.Pro44=)
|
rs199702573
|
0.00067
|
NM_002470.4(MYH3):c.736-6A>G
|
rs372079063
|
0.00067
|
NM_003334.4(UBA1):c.648A>G (p.Pro216=)
|
rs146676571
|
0.00067
|
NM_153717.3(EVC):c.2322G>C (p.Ala774=)
|
rs150373930
|
0.00067
|
NM_001271938.2(MEGF8):c.495G>C (p.Gly165=)
|
rs146885610
|
0.00066
|
NM_020937.4(FANCM):c.990A>G (p.Thr330=)
|
rs138677111
|
0.00066
|
NM_032444.4(SLX4):c.5259C>T (p.Asp1753=)
|
rs144776083
|
0.00065
|
NM_138959.3(VANGL1):c.1050T>C (p.His350=)
|
rs147220426
|
0.00065
|
NM_000135.4(FANCA):c.2364C>T (p.Ala788=)
|
rs149754397
|
0.00064
|
NM_004380.3(CREBBP):c.4494A>G (p.Arg1498=)
|
rs149560660
|
0.00064
|
NM_005445.4(SMC3):c.3495T>A (p.Ala1165=)
|
rs142395521
|
0.00064
|
NM_017617.5(NOTCH1):c.7536G>A (p.Pro2512=)
|
rs192299793
|
0.00064
|
NM_133433.4(NIPBL):c.2727T>C (p.Gly909=)
|
rs148394805
|
0.00064
|
NM_001018115.3(FANCD2):c.1833C>T (p.Thr611=)
|
rs181219364
|
0.00063
|
NM_001018115.3(FANCD2):c.3446C>T (p.Ala1149Val)
|
rs147675860
|
0.00063
|
NM_001113378.2(FANCI):c.286G>A (p.Glu96Lys)
|
rs149243307
|
0.00063
|
NM_001999.4(FBN2):c.7841-16G>T
|
rs201231807
|
0.00063
|
NM_002010.3(FGF9):c.*1411T>C
|
rs181623879
|
0.00063
|
NM_002470.4(MYH3):c.3612T>C (p.Leu1204=)
|
rs146773743
|
0.00063
|
NM_004380.3(CREBBP):c.4133+9G>A
|
rs376602227
|
0.00063
|
NM_017617.5(NOTCH1):c.3115G>A (p.Gly1039Ser)
|
rs200207651
|
0.00063
|
NM_001429.4(EP300):c.94+13A>G
|
rs201124490
|
0.00062
|
NM_003289.4(TPM2):c.563+17G>A
|
rs201633747
|
0.00062
|
NM_017617.5(NOTCH1):c.6363C>T (p.Ser2121=)
|
rs61751533
|
0.00062
|
NM_001999.4(FBN2):c.1749G>A (p.Gly583=)
|
rs75940000
|
0.00061
|
NM_002334.4(LRP4):c.570C>T (p.Pro190=)
|
rs147353838
|
0.00061
|
NM_014918.5(CHSY1):c.1218C>T (p.Asp406=)
|
rs113219895
|
0.00061
|
NM_017617.5(NOTCH1):c.5967T>C (p.Asp1989=)
|
rs73668311
|
0.00061
|
NM_022458.4(LMBR1):c.*1469C>T
|
rs184156281
|
0.00061
|
NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys)
|
rs185678374
|
0.00061
|
NM_138959.3(VANGL1):c.*2187T>C
|
rs146730302
|
0.00061
|
NM_021922.3(FANCE):c.1028G>A (p.Arg343Gln)
|
rs45467798
|
0.00060
|
NM_138959.3(VANGL1):c.285C>T (p.Ile95=)
|
rs140451005
|
0.00060
|
NM_147127.5(EVC2):c.3431G>A (p.Ser1144Asn)
|
rs200609501
|
0.00060
|
NM_002334.4(LRP4):c.677-14T>C
|
rs373597511
|
0.00059
|
NM_002465.4(MYBPC1):c.2320T>C (p.Leu774=)
|
rs201984898
|
0.00059
|
NM_007294.4(BRCA1):c.4691T>C (p.Leu1564Pro)
|
rs56119278
|
0.00059
|
NM_032444.4(SLX4):c.3178C>T (p.Arg1060Trp)
|
rs144273492
|
0.00059
|
NM_147127.5(EVC2):c.1287T>C (p.Ser429=)
|
rs148775651
|
0.00059
|
NM_173660.5(DOK7):c.1020C>T (p.Ile340=)
|
rs370838856
|
0.00059
|
NM_001018113.3(FANCB):c.262G>A (p.Gly88Arg)
|
rs142101123
|
0.00058
|
NM_001113378.2(FANCI):c.1584-15C>G
|
rs199531931
|
0.00058
|
NM_002470.4(MYH3):c.166C>G (p.Gln56Glu)
|
rs143973840
|
0.00058
|
NM_002968.3(SALL1):c.809C>T (p.Pro270Leu)
|
rs140827311
|
0.00058
|
NM_017617.5(NOTCH1):c.140+17C>T
|
rs377269443
|
0.00058
|
NM_000557.5(GDF5):c.1128G>T (p.Gln376His)
|
rs138130158
|
0.00057
|
NM_000751.3(CHRND):c.1253-9C>T
|
rs2853458
|
0.00057
|
NM_001113378.2(FANCI):c.1698+16G>A
|
rs142941067
|
0.00057
|
NM_005445.4(SMC3):c.1280A>G (p.Lys427Arg)
|
rs142524280
|
0.00057
|
NM_133433.4(NIPBL):c.-243A>C
|
rs544681871
|
0.00057
|
NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr)
|
rs17227396
|
0.00056
|
NM_001018115.3(FANCD2):c.205+9T>G
|
rs34113138
|
0.00056
|
NM_002470.4(MYH3):c.2683-14C>A
|
rs202129717
|
0.00056
|
NM_017617.5(NOTCH1):c.1100-14C>T
|
rs562148507
|
0.00056
|
NM_017617.5(NOTCH1):c.311A>G (p.Asn104Ser)
|
rs199654211
|
0.00056
|
NM_133433.4(NIPBL):c.534C>T (p.Tyr178=)
|
rs148542094
|
0.00056
|
NM_138959.3(VANGL1):c.*3409T>C
|
rs140931431
|
0.00056
|
NM_006306.4(SMC1A):c.*5444G>A
|
rs181871602
|
0.00055
|
NM_032043.3(BRIP1):c.430G>A (p.Ala144Thr)
|
rs116952709
|
0.00055
|
NM_001999.4(FBN2):c.4472-12T>A
|
rs551686237
|
0.00054
|
NM_002470.4(MYH3):c.3731C>T (p.Ala1244Val)
|
rs140074626
|
0.00054
|
NM_002470.4(MYH3):c.4647+6T>G
|
rs375163919
|
0.00054
|
NM_004380.3(CREBBP):c.2850G>A (p.Thr950=)
|
rs141651423
|
0.00054
|
NM_181486.4(TBX5):c.55G>T (p.Ala19Ser)
|
rs200461617
|
0.00054
|
NM_000135.4(FANCA):c.1047G>A (p.Ala349=)
|
rs144900606
|
0.00053
|
NM_001018113.3(FANCB):c.1442G>A (p.Arg481His)
|
rs140198444
|
0.00053
|
NM_001113378.2(FANCI):c.1893A>C (p.Leu631Phe)
|
rs118138806
|
0.00053
|
NM_017617.5(NOTCH1):c.2136C>A (p.Thr712=)
|
rs369346436
|
0.00053
|
NM_017617.5(NOTCH1):c.3249C>T (p.Cys1083=)
|
rs139994842
|
0.00053
|
NM_032444.4(SLX4):c.2844G>A (p.Ala948=)
|
rs376877866
|
0.00053
|
NM_001271938.2(MEGF8):c.4152C>T (p.Leu1384=)
|
rs34225188
|
0.00052
|
NM_001429.4(EP300):c.1168+20T>C
|
rs3818121
|
0.00052
|
NM_002334.4(LRP4):c.2506+17C>T
|
rs376349760
|
0.00052
|
NM_014918.5(CHSY1):c.573C>T (p.Ser191=)
|
rs147152103
|
0.00052
|
NM_001271938.2(MEGF8):c.4781G>A (p.Arg1594His)
|
rs141153248
|
0.00051
|
NM_002470.4(MYH3):c.4635C>T (p.Leu1545=)
|
rs74406856
|
0.00051
|
NM_004380.3(CREBBP):c.760G>A (p.Ala254Thr)
|
rs148781922
|
0.00051
|
NM_006306.4(SMC1A):c.3591C>T (p.Ala1197=)
|
rs146216425
|
0.00051
|
NM_017617.5(NOTCH1):c.4653C>T (p.Ser1551=)
|
rs368495371
|
0.00051
|
NM_032444.4(SLX4):c.4836C>T (p.Asp1612=)
|
rs140844106
|
0.00051
|
NM_133433.4(NIPBL):c.4959A>G (p.Lys1653=)
|
rs145952190
|
0.00051
|
NM_147127.5(EVC2):c.2178G>A (p.Glu726=)
|
rs147015327
|
0.00051
|
NM_181486.4(TBX5):c.*1188T>C
|
rs141223729
|
0.00051
|
NM_002010.3(FGF9):c.*208G>A
|
rs552081915
|
0.00050
|
NM_002470.4(MYH3):c.3072C>G (p.Thr1024=)
|
rs139544273
|
0.00050
|
NM_004380.3(CREBBP):c.2409C>T (p.Ser803=)
|
rs139207930
|
0.00050
|
NM_005199.5(CHRNG):c.132G>A (p.Ala44=)
|
rs141402683
|
0.00050
|
NM_000474.4(TWIST1):c.369G>C (p.Ser123=)
|
rs144664279
|
0.00049
|
NM_001429.4(EP300):c.5364C>T (p.Leu1788=)
|
rs143551315
|
0.00049
|
NM_001999.4(FBN2):c.5674+7A>G
|
rs367877964
|
0.00049
|
NM_002968.3(SALL1):c.129C>T (p.His43=)
|
rs368688611
|
0.00049
|
NM_004380.3(CREBBP):c.2950A>T (p.Asn984Tyr)
|
rs140406003
|
0.00049
|
NM_032444.4(SLX4):c.2975G>A (p.Gly992Glu)
|
rs139287784
|
0.00049
|
NM_000135.4(FANCA):c.3427C>G (p.Leu1143Val)
|
rs61753269
|
0.00048
|
NM_001271938.2(MEGF8):c.402C>T (p.Asn134=)
|
rs117439608
|
0.00048
|
NM_001429.4(EP300):c.3105C>T (p.Thr1035=)
|
rs150498069
|
0.00048
|
NM_001999.4(FBN2):c.3595G>A (p.Val1199Met)
|
rs146997253
|
0.00048
|
NM_002968.3(SALL1):c.3310C>G (p.Pro1104Ala)
|
rs547153228
|
0.00048
|
NM_003334.4(UBA1):c.39C>T (p.Ser13=)
|
rs141450062
|
0.00048
|
NM_133433.4(NIPBL):c.1212C>T (p.Pro404=)
|
rs80358349
|
0.00048
|
NM_133433.4(NIPBL):c.615G>A (p.Ser205=)
|
rs150678035
|
0.00048
|
NM_001018113.3(FANCB):c.69T>C (p.Leu23=)
|
rs151173533
|
0.00047
|
NM_001018113.3(FANCB):c.989T>C (p.Ile330Thr)
|
rs200161949
|
0.00047
|
NM_001018115.3(FANCD2):c.4038+8G>A
|
rs190990145
|
0.00047
|
NM_001999.4(FBN2):c.6841A>T (p.Ile2281Phe)
|
rs115223340
|
0.00047
|
NM_017617.5(NOTCH1):c.2505C>A (p.Pro835=)
|
rs111756273
|
0.00047
|
NM_058216.3(RAD51C):c.706-18T>C
|
rs56401264
|
0.00047
|
NM_133433.4(NIPBL):c.8337G>A (p.Thr2779=)
|
rs139108785
|
0.00047
|
NM_153717.3(EVC):c.175-18C>G
|
rs114621329
|
0.00047
|
NM_181486.4(TBX5):c.*306C>T
|
rs571901755
|
0.00047
|
NM_001018113.3(FANCB):c.1067C>T (p.Ser356Leu)
|
rs142304943
|
0.00046
|
NM_001999.4(FBN2):c.7380C>T (p.Cys2460=)
|
rs147102633
|
0.00046
|
NM_002465.4(MYBPC1):c.1457C>A (p.Pro486Gln)
|
rs139605474
|
0.00046
|
NM_002465.4(MYBPC1):c.3402A>G (p.Thr1134=)
|
rs149742717
|
0.00046
|
NM_006306.4(SMC1A):c.1912-14C>T
|
rs375109064
|
0.00046
|
NM_020937.4(FANCM):c.4931G>A (p.Arg1644Gln)
|
rs138151018
|
0.00046
|
NM_130468.4(CHST14):c.635T>C (p.Val212Ala)
|
rs144629123
|
0.00046
|
NM_133433.4(NIPBL):c.804A>G (p.Ala268=)
|
rs144238532
|
0.00046
|
NM_001018115.3(FANCD2):c.182C>T (p.Thr61Met)
|
rs35110529
|
0.00045
|
NM_001429.4(EP300):c.2568A>G (p.Ala856=)
|
rs145037345
|
0.00045
|
NM_002470.4(MYH3):c.3270A>G (p.Gln1090=)
|
rs144312976
|
0.00045
|
NM_002470.4(MYH3):c.5301G>A (p.Ala1767=)
|
rs151028057
|
0.00045
|
NM_002968.3(SALL1):c.2331C>T (p.Asn777=)
|
rs144747142
|
0.00045
|
NM_003289.4(TPM2):c.726C>T (p.Ala242=)
|
rs76414035
|
0.00045
|
NM_003334.4(UBA1):c.1137C>T (p.Asp379=)
|
rs143935711
|
0.00045
|
NM_006265.3(RAD21):c.468A>G (p.Gln156=)
|
rs530697556
|
0.00045
|
NM_017617.5(NOTCH1):c.5403A>G (p.Ser1801=)
|
rs201358664
|
0.00045
|
NM_017617.5(NOTCH1):c.7390C>T (p.Leu2464=)
|
rs372760677
|
0.00045
|
NM_004380.3(CREBBP):c.5770G>A (p.Val1924Met)
|
rs368145743
|
0.00044
|
NM_004380.3(CREBBP):c.5865G>A (p.Ala1955=)
|
rs554810606
|
0.00044
|
NM_006306.4(SMC1A):c.2862+14C>T
|
rs180705944
|
0.00044
|
NM_017617.5(NOTCH1):c.3831C>T (p.Asp1277=)
|
rs374989581
|
0.00044
|
NM_020436.5(SALL4):c.2218C>G (p.Pro740Ala)
|
rs149359253
|
0.00044
|
NM_001429.4(EP300):c.3063T>C (p.Thr1021=)
|
rs142431552
|
0.00043
|
NM_003722.5(TP63):c.*627T>C
|
rs184452906
|
0.00043
|
NM_017617.5(NOTCH1):c.3901+3G>A
|
rs373113999
|
0.00043
|
NM_017617.5(NOTCH1):c.7449G>A (p.Thr2483=)
|
rs375728200
|
0.00043
|
NM_020436.5(SALL4):c.2493A>G (p.Arg831=)
|
rs79909922
|
0.00043
|
NM_020436.5(SALL4):c.2649C>T (p.Ser883=)
|
rs772770482
|
0.00043
|
NM_021922.3(FANCE):c.1333C>T (p.Pro445Ser)
|
rs141551053
|
0.00043
|
NM_023110.3(FGFR1):c.320C>T (p.Ser107Leu)
|
rs140382957
|
0.00043
|
NM_173660.5(DOK7):c.1029C>T (p.Gly343=)
|
rs375877997
|
0.00043
|
NM_006265.3(RAD21):c.1617A>G (p.Glu539=)
|
rs138040512
|
0.00042
|
NM_147127.5(EVC2):c.3468G>A (p.Leu1156=)
|
rs201460514
|
0.00042
|
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val)
|
rs138417003
|
0.00041
|
NM_001999.4(FBN2):c.8043C>A (p.Pro2681=)
|
rs149502195
|
0.00041
|
NM_004260.4(RECQL4):c.1576C>T (p.Leu526Phe)
|
rs200732690
|
0.00041
|
NM_017617.5(NOTCH1):c.2325C>T (p.Tyr775=)
|
rs749686245
|
0.00041
|
NM_018486.3(HDAC8):c.351G>T (p.Gly117=)
|
rs199969298
|
0.00041
|
NM_020436.5(SALL4):c.2162C>T (p.Thr721Met)
|
rs147195029
|
0.00041
|
NM_023110.3(FGFR1):c.1854+19C>T
|
rs199830036
|
0.00041
|
NM_023110.3(FGFR1):c.2278T>C (p.Leu760=)
|
rs201490643
|
0.00041
|
NM_001999.4(FBN2):c.4246A>G (p.Thr1416Ala)
|
rs200837433
|
0.00040
|
NM_005445.4(SMC3):c.2535+15T>G
|
rs3818903
|
0.00040
|
NM_005592.4(MUSK):c.2203G>A (p.Glu735Lys)
|
rs138418494
|
0.00040
|
NM_023110.3(FGFR1):c.1553-13G>A
|
rs17182414
|
0.00040
|
NM_001018113.3(FANCB):c.1658C>T (p.Thr553Met)
|
rs146157131
|
0.00039
|
NM_006306.4(SMC1A):c.2824C>T (p.Leu942=)
|
rs139654605
|
0.00039
|
NM_017617.5(NOTCH1):c.3326-11A>C
|
rs377648586
|
0.00039
|
NM_017617.5(NOTCH1):c.7369C>G (p.Leu2457Val)
|
rs61755043
|
0.00039
|
NM_138959.3(VANGL1):c.*47G>T
|
rs190792695
|
0.00039
|
NM_181486.4(TBX5):c.354T>C (p.Asp118=)
|
rs151249768
|
0.00039
|
NM_001018113.3(FANCB):c.1393T>C (p.Ser465Pro)
|
rs143976596
|
0.00038
|
NM_001018113.3(FANCB):c.2452A>G (p.Arg818Gly)
|
rs143131218
|
0.00038
|
NM_001278689.2(EOGT):c.71C>G (p.Pro24Arg)
|
rs140016031
|
0.00038
|
NM_004380.3(CREBBP):c.3158C>T (p.Pro1053Leu)
|
rs142008620
|
0.00038
|
NM_004380.3(CREBBP):c.4119C>T (p.Pro1373=)
|
rs3025679
|
0.00038
|
NM_017617.5(NOTCH1):c.2646A>T (p.Ala882=)
|
rs61751550
|
0.00038
|
NM_032444.4(SLX4):c.231A>G (p.Gln77=)
|
rs143279888
|
0.00038
|
NM_133433.4(NIPBL):c.5011-13A>G
|
rs13177643
|
0.00038
|
NM_153717.3(EVC):c.1995G>A (p.Ser665=)
|
rs142897994
|
0.00038
|
NM_181486.4(TBX5):c.*1373G>T
|
rs192527148
|
0.00038
|
NM_001271938.2(MEGF8):c.5524G>C (p.Val1842Leu)
|
rs143508185
|
0.00037
|
NM_022458.4(LMBR1):c.*2667A>T
|
rs187134101
|
0.00037
|
NM_133433.4(NIPBL):c.4731A>G (p.Glu1577=)
|
rs140021654
|
0.00037
|
NM_181486.4(TBX5):c.*739T>C
|
rs117414057
|
0.00037
|
NM_000136.3(FANCC):c.457-18A>G
|
rs377206543
|
0.00036
|
NM_001018113.3(FANCB):c.2090C>T (p.Pro697Leu)
|
rs147255018
|
0.00036
|
NM_001374353.1(GLI2):c.4530T>C (p.Gly1510=)
|
rs144700510
|
0.00036
|
NM_001999.4(FBN2):c.7263G>A (p.Gln2421=)
|
rs114376818
|
0.00036
|
NM_133433.4(NIPBL):c.198C>G (p.Val66=)
|
rs146033170
|
0.00036
|
NM_133433.4(NIPBL):c.961A>C (p.Arg321=)
|
rs138720101
|
0.00036
|
NM_138959.3(VANGL1):c.*3598A>G
|
rs187286147
|
0.00036
|
NM_001429.4(EP300):c.6951G>A (p.Arg2317=)
|
rs139551099
|
0.00035
|
NM_002470.4(MYH3):c.1881G>A (p.Thr627=)
|
rs140144159
|
0.00035
|
NM_002470.4(MYH3):c.3729+9C>T
|
rs201955505
|
0.00035
|
NM_003334.4(UBA1):c.1242C>T (p.Ser414=)
|
rs369843264
|
0.00035
|
NM_017617.5(NOTCH1):c.432C>T (p.Cys144=)
|
rs373713957
|
0.00035
|
NM_017617.5(NOTCH1):c.6429C>T (p.Asn2143=)
|
rs369845924
|
0.00035
|
NM_022458.4(LMBR1):c.*2761G>A
|
rs182572414
|
0.00035
|
NM_001018115.3(FANCD2):c.3466+10C>T
|
rs200208121
|
0.00034
|
NM_001374353.1(GLI2):c.1632+11G>A
|
rs140347335
|
0.00034
|
NM_001999.4(FBN2):c.4472-11A>T
|
rs528062851
|
0.00034
|
NM_001999.4(FBN2):c.6666G>A (p.Pro2222=)
|
rs192923239
|
0.00034
|
NM_003334.4(UBA1):c.176+13A>G
|
rs186890744
|
0.00034
|
NM_003722.5(TP63):c.678C>T (p.Arg226=)
|
rs61732782
|
0.00034
|
NM_023110.3(FGFR1):c.1398C>T (p.Pro466=)
|
rs150652786
|
0.00034
|
NM_147127.5(EVC2):c.1882G>A (p.Glu628Lys)
|
rs186197620
|
0.00034
|
NM_147127.5(EVC2):c.2310G>T (p.Trp770Cys)
|
rs572056540
|
0.00034
|
NM_000136.3(FANCC):c.*5C>T
|
rs117175949
|
0.00033
|
NM_000141.5(FGFR2):c.-135C>T
|
rs554557891
|
0.00033
|
NM_003334.4(UBA1):c.1486G>A (p.Glu496Lys)
|
rs140950898
|
0.00033
|
NM_017617.5(NOTCH1):c.1038C>T (p.His346=)
|
rs376951155
|
0.00033
|
NM_020436.5(SALL4):c.2835C>T (p.Asp945=)
|
rs143702441
|
0.00033
|
NM_005592.4(MUSK):c.2573G>A (p.Arg858His)
|
rs34115159
|
0.00032
|
NM_017617.5(NOTCH1):c.3042G>A (p.Thr1014=)
|
rs371532644
|
0.00032
|
NM_133433.4(NIPBL):c.1891G>T (p.Val631Leu)
|
rs142820200
|
0.00032
|
NM_000135.4(FANCA):c.480G>A (p.Met160Ile)
|
rs200603300
|
0.00031
|
NM_001018113.3(FANCB):c.2477C>T (p.Thr826Met)
|
rs201436396
|
0.00031
|
NM_001374353.1(GLI2):c.4170G>A (p.Pro1390=)
|
rs200149538
|
0.00031
|
NM_002010.3(FGF9):c.*2325A>G
|
rs143740722
|
0.00031
|
NM_004380.3(CREBBP):c.3024C>T (p.Pro1008=)
|
rs144649776
|
0.00031
|
NM_004380.3(CREBBP):c.3982+9C>T
|
rs114668693
|
0.00031
|
NM_017617.5(NOTCH1):c.186G>C (p.Pro62=)
|
rs374320445
|
0.00031
|
NM_020754.4(ARHGAP31):c.4096G>A (p.Val1366Met)
|
rs3796360
|
0.00031
|
NM_133433.4(NIPBL):c.1986A>C (p.Lys662Asn)
|
rs781213650
|
0.00031
|
NM_001999.4(FBN2):c.*274C>T
|
rs140550329
|
0.00030
|
NM_004380.3(CREBBP):c.2616G>A (p.Thr872=)
|
rs781112420
|
0.00030
|
NM_017617.5(NOTCH1):c.1100-8C>T
|
rs545088400
|
0.00030
|
NM_018486.3(HDAC8):c.933G>A (p.Thr311=)
|
rs183108231
|
0.00030
|
NM_181486.4(TBX5):c.1115C>T (p.Ser372Leu)
|
rs143068551
|
0.00030
|
NM_000557.5(GDF5):c.-39C>T
|
rs149907722
|
0.00029
|
NM_001018113.3(FANCB):c.1371C>T (p.Val457=)
|
rs149695930
|
0.00029
|
NM_001429.4(EP300):c.6481A>G (p.Met2161Val)
|
rs188035979
|
0.00029
|
NM_001999.4(FBN2):c.1057A>G (p.Thr353Ala)
|
rs149992874
|
0.00029
|
NM_001999.4(FBN2):c.4454A>G (p.Asp1485Gly)
|
rs199665922
|
0.00029
|
NM_002010.3(FGF9):c.*318G>A
|
rs17070736
|
0.00029
|
NM_002470.4(MYH3):c.1521C>T (p.Ile507=)
|
rs140685610
|
0.00029
|
NM_002470.4(MYH3):c.412G>A (p.Glu138Lys)
|
rs191837780
|
0.00029
|
NM_005592.4(MUSK):c.500T>C (p.Ile167Thr)
|
rs202045225
|
0.00029
|
NM_017617.5(NOTCH1):c.2226C>T (p.Asp742=)
|
rs201889382
|
0.00029
|
NM_017617.5(NOTCH1):c.4548C>T (p.Phe1516=)
|
rs199740882
|
0.00029
|
NM_023110.3(FGFR1):c.2424C>G (p.Pro808=)
|
rs374507681
|
0.00029
|
NM_133433.4(NIPBL):c.179A>G (p.Asn60Ser)
|
rs142703446
|
0.00029
|
NM_000136.3(FANCC):c.973G>A (p.Ala325Thr)
|
rs201407189
|
0.00028
|
NM_001429.4(EP300):c.2380-18T>C
|
rs189468196
|
0.00028
|
NM_002334.4(LRP4):c.*2080T>C
|
rs76159791
|
0.00028
|
NM_002470.4(MYH3):c.3137G>A (p.Arg1046Gln)
|
rs142002449
|
0.00028
|
NM_002470.4(MYH3):c.5274G>A (p.Lys1758=)
|
rs377092561
|
0.00028
|
NM_003334.4(UBA1):c.132C>T (p.Asn44=)
|
rs368727585
|
0.00028
|
NM_133433.4(NIPBL):c.2447G>A (p.Arg816His)
|
rs80358359
|
0.00028
|
NM_017617.5(NOTCH1):c.4921C>T (p.Pro1641Ser)
|
rs535702482
|
0.00027
|
NM_021922.3(FANCE):c.1116C>T (p.Ile372=)
|
rs143234424
|
0.00027
|
NM_000557.5(GDF5):c.953G>C (p.Arg318Pro)
|
rs201590447
|
0.00026
|
NM_001999.4(FBN2):c.2249-19A>G
|
rs193091226
|
0.00026
|
NM_001999.4(FBN2):c.5353+16G>A
|
rs187448568
|
0.00026
|
NM_001999.4(FBN2):c.8364+18dup
|
rs752497923
|
0.00026
|
NM_002470.4(MYH3):c.5161-13C>T
|
rs201674457
|
0.00026
|
NM_003722.5(TP63):c.*2625A>T
|
rs35694511
|
0.00026
|
NM_017617.5(NOTCH1):c.4407C>T (p.Asn1469=)
|
rs202231073
|
0.00026
|
NM_032444.4(SLX4):c.86G>A (p.Arg29His)
|
rs149117119
|
0.00026
|
NM_138959.3(VANGL1):c.-115G>C
|
rs181583261
|
0.00026
|
NM_000135.4(FANCA):c.2101A>G (p.Lys701Glu)
|
rs56369086
|
0.00025
|
NM_000135.4(FANCA):c.399C>T (p.His133=)
|
rs56190097
|
0.00025
|
NM_000557.5(GDF5):c.855C>T (p.Gly285=)
|
rs149593773
|
0.00025
|
NM_005592.4(MUSK):c.2331C>T (p.Asn777=)
|
rs56394142
|
0.00025
|
NM_022458.4(LMBR1):c.*2905T>A
|
rs574914124
|
0.00025
|
NM_000135.4(FANCA):c.41A>G (p.Asp14Gly)
|
rs762648754
|
0.00024
|
NM_000141.5(FGFR2):c.1085-13A>T
|
rs41295573
|
0.00024
|
NM_001018113.3(FANCB):c.1995C>T (p.Pro665=)
|
rs192743430
|
0.00024
|
NM_001113378.2(FANCI):c.1749T>C (p.Phe583=)
|
rs201037656
|
0.00024
|
NM_001999.4(FBN2):c.297T>C (p.Pro99=)
|
rs79375977
|
0.00024
|
NM_002010.3(FGF9):c.-726C>T
|
rs531745333
|
0.00024
|
NM_002472.3(MYH8):c.3320del (p.Leu1107fs)
|
rs751871946
|
0.00024
|
NM_003334.4(UBA1):c.1097A>C (p.Asn366Thr)
|
rs149478641
|
0.00024
|
NM_022458.4(LMBR1):c.*11C>T
|
rs375283454
|
0.00024
|
NM_181486.4(TBX5):c.*960A>G
|
rs566107581
|
0.00024
|
NM_181486.4(TBX5):c.318T>C (p.Ile106=)
|
rs141457646
|
0.00024
|
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn)
|
rs56087561
|
0.00023
|
NM_001018115.3(FANCD2):c.2877A>G (p.Gln959=)
|
rs145953386
|
0.00023
|
NM_001999.4(FBN2):c.5430T>C (p.Asp1810=)
|
rs750681115
|
0.00023
|
NM_002470.4(MYH3):c.3468C>T (p.Gly1156=)
|
rs193224181
|
0.00023
|
NM_002968.3(SALL1):c.3915C>T (p.Asn1305=)
|
rs140524372
|
0.00023
|
NM_003334.4(UBA1):c.1296C>T (p.Leu432=)
|
rs147825775
|
0.00023
|
NM_003334.4(UBA1):c.2793G>T (p.Leu931=)
|
rs782340410
|
0.00023
|
NM_004380.3(CREBBP):c.5934C>T (p.Asn1978=)
|
rs754282387
|
0.00023
|
NM_006306.4(SMC1A):c.*1239T>C
|
rs782502306
|
0.00023
|
NM_006306.4(SMC1A):c.*3851A>T
|
rs782817464
|
0.00023
|
NM_020436.5(SALL4):c.1113C>G (p.Val371=)
|
rs77810153
|
0.00023
|
NM_001999.4(FBN2):c.5670T>C (p.Cys1890=)
|
rs74811638
|
0.00022
|
NM_001999.4(FBN2):c.6840G>T (p.Pro2280=)
|
rs377742525
|
0.00022
|
NM_001999.4(FBN2):c.7013-7T>A
|
rs191729449
|
0.00022
|
NM_002470.4(MYH3):c.3389G>A (p.Arg1130His)
|
rs184919169
|
0.00022
|
NM_002968.3(SALL1):c.1200G>A (p.Ser400=)
|
rs79302764
|
0.00022
|
NM_003722.5(TP63):c.766+5G>A
|
rs374425727
|
0.00022
|
NM_022458.4(LMBR1):c.665A>C (p.Gln222Pro)
|
rs201194692
|
0.00022
|
NM_133433.4(NIPBL):c.869-16C>T
|
rs3736396
|
0.00022
|
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp)
|
rs80358755
|
0.00021
|
NM_001429.4(EP300):c.6043A>G (p.Met2015Val)
|
rs1351718424
|
0.00021
|
NM_003282.4(TNNI2):c.333A>G (p.Pro111=)
|
rs201133081
|
0.00021
|
NM_003722.5(TP63):c.*2426C>T
|
rs568346565
|
0.00021
|
NM_003722.5(TP63):c.504C>T (p.Asn168=)
|
rs141278696
|
0.00021
|
NM_004380.3(CREBBP):c.4560+14A>G
|
rs200934101
|
0.00021
|
NM_017617.5(NOTCH1):c.2970-9C>T
|
rs568052902
|
0.00021
|
NM_021922.3(FANCE):c.970-16C>T
|
rs117779586
|
0.00021
|
NM_000136.3(FANCC):c.1407G>A (p.Thr469=)
|
rs79722116
|
0.00020
|
NM_001018113.3(FANCB):c.1140T>A (p.Phe380Leu)
|
rs199909156
|
0.00020
|
NM_001429.4(EP300):c.324C>T (p.Ala108=)
|
rs138876937
|
0.00020
|
NM_001999.4(FBN2):c.8049G>A (p.Gly2683=)
|
rs138044126
|
0.00020
|
NM_002465.4(MYBPC1):c.192C>T (p.Val64=)
|
rs143380884
|
0.00020
|
NM_006306.4(SMC1A):c.3438-7C>T
|
rs782796392
|
0.00020
|
NM_017617.5(NOTCH1):c.3528C>T (p.His1176=)
|
rs202133782
|
0.00020
|
NM_022725.4(FANCF):c.465A>T (p.Pro155=)
|
rs201215734
|
0.00020
|
NM_000135.4(FANCA):c.157A>C (p.Ser53Arg)
|
rs61757383
|
0.00019
|
NM_001018113.3(FANCB):c.507T>C (p.Ser169=)
|
rs149609970
|
0.00019
|
NM_001113525.2(ZNF276):c.*69G>A
|
rs17233804
|
0.00019
|
NM_001429.4(EP300):c.2240C>T (p.Pro747Leu)
|
rs193026103
|
0.00019
|
NM_001999.4(FBN2):c.3322A>C (p.Met1108Leu)
|
rs148127874
|
0.00019
|
NM_002968.3(SALL1):c.1950C>T (p.Gly650=)
|
rs138705495
|
0.00019
|
NM_004380.3(CREBBP):c.3750C>T (p.Thr1250=)
|
rs199885110
|
0.00019
|
NM_006306.4(SMC1A):c.1173G>A (p.Gln391=)
|
rs147952638
|
0.00019
|
NM_007294.4(BRCA1):c.4484+14A>G
|
rs80358022
|
0.00019
|
NM_017617.5(NOTCH1):c.2037C>T (p.Ile679=)
|
rs367591933
|
0.00019
|
NM_032043.3(BRIP1):c.36G>T (p.Gly12=)
|
rs45566938
|
0.00019
|
NM_032634.4(PIGO):c.2487G>T (p.Gly829=)
|
rs763623508
|
0.00019
|
NM_147127.5(EVC2):c.3413C>T (p.Thr1138Met)
|
rs182298453
|
0.00019
|
NM_173660.5(DOK7):c.1091G>A (p.Arg364Gln)
|
rs201304841
|
0.00019
|
NM_001429.4(EP300):c.1104C>T (p.His368=)
|
rs78045947
|
0.00018
|
NM_001999.4(FBN2):c.6253C>G (p.Pro2085Ala)
|
rs34845843
|
0.00018
|
NM_002470.4(MYH3):c.5797-12C>G
|
rs374799651
|
0.00018
|
NM_002470.4(MYH3):c.642+8T>C
|
rs370685666
|
0.00018
|
NM_006306.4(SMC1A):c.*2856A>T
|
rs148128199
|
0.00018
|
NM_007294.4(BRCA1):c.5406+33A>T
|
rs80358092
|
0.00018
|
NM_018486.3(HDAC8):c.295+13C>T
|
rs138424378
|
0.00018
|
NM_138959.3(VANGL1):c.*25A>T
|
rs577473121
|
0.00018
|
NM_000135.4(FANCA):c.308C>T (p.Ser103Leu)
|
rs147176389
|
0.00017
|
NM_001018115.3(FANCD2):c.2723C>T (p.Thr908Ile)
|
rs188375397
|
0.00017
|
NM_002470.4(MYH3):c.3993G>A (p.Ala1331=)
|
rs137974114
|
0.00017
|
NM_006306.4(SMC1A):c.2862+20G>A
|
rs374473076
|
0.00017
|
NM_017617.5(NOTCH1):c.1556-9C>T
|
rs150834418
|
0.00017
|
NM_017617.5(NOTCH1):c.4095C>T (p.Ser1365=)
|
rs202023240
|
0.00017
|
NM_017617.5(NOTCH1):c.839A>G (p.Asn280Ser)
|
rs367825691
|
0.00017
|
NM_032043.3(BRIP1):c.1890A>G (p.Thr630=)
|
rs145796331
|
0.00017
|
NM_032043.3(BRIP1):c.587A>G (p.Asn196Ser)
|
rs550707862
|
0.00017
|
NM_147127.5(EVC2):c.1341C>T (p.Tyr447=)
|
rs186349183
|
0.00017
|
NM_000135.4(FANCA):c.2152-20T>A
|
rs200403206
|
0.00016
|
NM_000135.4(FANCA):c.3348+7G>T
|
rs185527578
|
0.00016
|
NM_000557.5(GDF5):c.*259G>C
|
rs150833046
|
0.00016
|
NM_001113378.2(FANCI):c.3051C>T (p.Asn1017=)
|
rs768378979
|
0.00016
|
NM_001429.4(EP300):c.6917A>G (p.Gln2306Arg)
|
rs140300789
|
0.00016
|
NM_001999.4(FBN2):c.3862G>A (p.Glu1288Lys)
|
rs371512923
|
0.00016
|
NM_002010.3(FGF9):c.*1741C>T
|
rs376775173
|
0.00016
|
NM_002334.4(LRP4):c.*2252G>A
|
rs188545674
|
0.00016
|
NM_003334.4(UBA1):c.965A>G (p.Lys322Arg)
|
rs146180431
|
0.00016
|
NM_004380.3(CREBBP):c.6138G>A (p.Ala2046=)
|
rs371656213
|
0.00016
|
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu)
|
rs80357201
|
0.00016
|
NM_017617.5(NOTCH1):c.1689C>T (p.Cys563=)
|
rs760548976
|
0.00016
|
NM_017617.5(NOTCH1):c.2191C>T (p.Arg731Trp)
|
rs199666126
|
0.00016
|
NM_017617.5(NOTCH1):c.3511-11C>T
|
rs201280571
|
0.00016
|
NM_017617.5(NOTCH1):c.5385-18C>T
|
rs370602147
|
0.00016
|
NM_018486.3(HDAC8):c.164+19A>T
|
rs188536186
|
0.00016
|
NM_023110.3(FGFR1):c.1269G>A (p.Leu423=)
|
rs144131616
|
0.00016
|
NM_023110.3(FGFR1):c.304G>A (p.Val102Ile)
|
rs55642501
|
0.00016
|
NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys)
|
rs201869624
|
0.00016
|
NM_032444.4(SLX4):c.2628C>T (p.Asp876=)
|
rs201279467
|
0.00016
|
NM_133433.4(NIPBL):c.6624C>T (p.Phe2208=)
|
rs371380435
|
0.00016
|
NM_173660.5(DOK7):c.765C>A (p.Gly255=)
|
rs138215484
|
0.00016
|
NM_001018113.3(FANCB):c.2411A>G (p.Asp804Gly)
|
rs148257882
|
0.00015
|
NM_001018115.3(FANCD2):c.4206A>G (p.Gln1402=)
|
rs745841768
|
0.00015
|
NM_001429.4(EP300):c.5565A>G (p.Pro1855=)
|
rs150532830
|
0.00015
|
NM_001999.4(FBN2):c.5602A>T (p.Ile1868Phe)
|
rs150931558
|
0.00015
|
NM_002470.4(MYH3):c.4810G>A (p.Ala1604Thr)
|
rs201488879
|
0.00015
|
NM_004380.3(CREBBP):c.1743T>G (p.Ala581=)
|
rs117115765
|
0.00015
|
NM_004380.3(CREBBP):c.2846C>T (p.Pro949Leu)
|
rs147083140
|
0.00015
|
NM_004380.3(CREBBP):c.833A>C (p.Gln278Pro)
|
rs577305576
|
0.00015
|
NM_006306.4(SMC1A):c.1564C>T (p.Leu522=)
|
rs782367851
|
0.00015
|
NM_017617.5(NOTCH1):c.2353+14G>A
|
rs140288481
|
0.00015
|
NM_017617.5(NOTCH1):c.591C>T (p.Asn197=)
|
rs370684825
|
0.00015
|
NM_018486.3(HDAC8):c.1111+9C>T
|
rs368139150
|
0.00015
|
NM_018486.3(HDAC8):c.491G>A (p.Arg164Gln)
|
rs148688742
|
0.00015
|
NM_022458.4(LMBR1):c.1399C>G (p.Leu467Val)
|
rs140722848
|
0.00015
|
NM_032444.4(SLX4):c.3315C>T (p.Ser1105=)
|
rs183029626
|
0.00015
|
NM_000135.4(FANCA):c.200C>A (p.Pro67Gln)
|
rs200698961
|
0.00014
|
NM_000135.4(FANCA):c.2949T>G (p.Ile983Met)
|
rs188695241
|
0.00014
|
NM_001018113.3(FANCB):c.869T>C (p.Met290Thr)
|
rs754552650
|
0.00014
|
NM_001018113.3(FANCB):c.960T>G (p.Ala320=)
|
rs139045247
|
0.00014
|
NM_001429.4(EP300):c.2916T>C (p.Pro972=)
|
rs142769483
|
0.00014
|
NM_001429.4(EP300):c.3537C>A (p.Gly1179=)
|
rs148939960
|
0.00014
|
NM_001999.4(FBN2):c.6064G>A (p.Ala2022Thr)
|
rs545524318
|
0.00014
|
NM_002465.4(MYBPC1):c.*317C>A
|
rs192569541
|
0.00014
|
NM_002465.4(MYBPC1):c.1237A>G (p.Arg413Gly)
|
rs201921739
|
0.00014
|
NM_002470.4(MYH3):c.*31T>G
|
rs201532275
|
0.00014
|
NM_002470.4(MYH3):c.5231A>G (p.Asp1744Gly)
|
rs200191762
|
0.00014
|
NM_004380.3(CREBBP):c.2225G>C (p.Arg742Pro)
|
rs748747684
|
0.00014
|
NM_004380.3(CREBBP):c.6090G>A (p.Gln2030=)
|
rs374969185
|
0.00014
|
NM_004380.3(CREBBP):c.6351C>T (p.Pro2117=)
|
rs142846349
|
0.00014
|
NM_004629.2(FANCG):c.881G>A (p.Gly294Glu)
|
rs17880082
|
0.00014
|
NM_006306.4(SMC1A):c.1337+9C>T
|
rs376455825
|
0.00014
|
NM_017617.5(NOTCH1):c.156C>T (p.Phe52=)
|
rs536299678
|
0.00014
|
NM_017617.5(NOTCH1):c.3597C>T (p.Leu1199=)
|
rs150666307
|
0.00014
|
NM_017617.5(NOTCH1):c.3901+12G>A
|
rs367600561
|
0.00014
|
NM_017617.5(NOTCH1):c.5192C>T (p.Pro1731Leu)
|
rs761345476
|
0.00014
|
NM_020937.4(FANCM):c.30G>A (p.Gln10=)
|
rs145745979
|
0.00014
|
NM_133433.4(NIPBL):c.1056C>T (p.Ser352=)
|
rs200440893
|
0.00014
|
NM_153717.3(EVC):c.2241G>A (p.Ala747=)
|
rs142094016
|
0.00014
|
NM_153717.3(EVC):c.2768A>C (p.Lys923Thr)
|
rs748268896
|
0.00014
|
NM_153717.3(EVC):c.940-12C>G
|
rs200707006
|
0.00014
|
NM_000751.3(CHRND):c.199-19C>T
|
rs145984749
|
0.00013
|
NM_001018115.3(FANCD2):c.2754A>G (p.Leu918=)
|
rs149395670
|
0.00013
|
NM_001429.4(EP300):c.1782G>C (p.Thr594=)
|
rs17002307
|
0.00013
|
NM_001999.4(FBN2):c.76A>G (p.Thr26Ala)
|
rs374922166
|
0.00013
|
NM_002470.4(MYH3):c.3535C>G (p.Leu1179Val)
|
rs375904355
|
0.00013
|
NM_002968.3(SALL1):c.235G>C (p.Ala79Pro)
|
rs536108231
|
0.00013
|
NM_003334.4(UBA1):c.1149C>T (p.Ile383=)
|
rs782140742
|
0.00013
|
NM_004380.3(CREBBP):c.5776C>G (p.Arg1926Gly)
|
rs778915687
|
0.00013
|
NM_004380.3(CREBBP):c.6444C>T (p.Gly2148=)
|
rs148539895
|
0.00013
|
NM_005236.3(ERCC4):c.973+11A>T
|
rs185779788
|
0.00013
|
NM_017617.5(NOTCH1):c.19C>T (p.Pro7Ser)
|
rs1397523469
|
0.00013
|
NM_017617.5(NOTCH1):c.2326G>A (p.Val776Met)
|
rs377286829
|
0.00013
|
NM_017617.5(NOTCH1):c.851C>T (p.Pro284Leu)
|
rs376104770
|
0.00013
|
NM_018062.4(FANCL):c.108C>G (p.Phe36Leu)
|
rs149726602
|
0.00013
|
NM_032043.3(BRIP1):c.3099T>C (p.Pro1033=)
|
rs202228407
|
0.00013
|
NM_032444.4(SLX4):c.2226C>T (p.Asp742=)
|
rs376261173
|
0.00013
|
NM_133433.4(NIPBL):c.-307C>T
|
rs377354585
|
0.00013
|
NM_147127.5(EVC2):c.1208G>A (p.Ser403Asn)
|
rs202093384
|
0.00013
|
NM_181486.4(TBX5):c.*563G>A
|
rs78058633
|
0.00013
|
NM_000135.4(FANCA):c.2266C>T (p.Arg756Cys)
|
rs556748657
|
0.00012
|
NM_001113525.2(ZNF276):c.*1313A>G
|
rs368376237
|
0.00012
|
NM_001113525.2(ZNF276):c.*471G>C
|
rs368506826
|
0.00012
|
NM_001429.4(EP300):c.4026-7T>C
|
rs187388966
|
0.00012
|
NM_001999.4(FBN2):c.6964A>G (p.Ile2322Val)
|
rs756500246
|
0.00012
|
NM_001999.4(FBN2):c.7594+12G>A
|
rs184678810
|
0.00012
|
NM_003334.4(UBA1):c.2979C>T (p.Gly993=)
|
rs145283250
|
0.00012
|
NM_006306.4(SMC1A):c.861G>A (p.Lys287=)
|
rs782543093
|
0.00012
|
NM_017617.5(NOTCH1):c.1146C>T (p.Asn382=)
|
rs368665838
|
0.00012
|
NM_017617.5(NOTCH1):c.165G>A (p.Pro55=)
|
rs373793124
|
0.00012
|
NM_017617.5(NOTCH1):c.2982C>T (p.Asn994=)
|
rs374100421
|
0.00012
|
NM_017617.5(NOTCH1):c.4179C>T (p.Gly1393=)
|
rs200664704
|
0.00012
|
NM_032444.4(SLX4):c.2235C>T (p.Thr745=)
|
rs75184268
|
0.00012
|
NM_000135.4(FANCA):c.1683G>A (p.Thr561=)
|
rs143451067
|
0.00011
|
NM_000135.4(FANCA):c.2236G>T (p.Ala746Ser)
|
rs575108446
|
0.00011
|
NM_000136.3(FANCC):c.1509G>A (p.Thr503=)
|
rs144278080
|
0.00011
|
NM_001113378.2(FANCI):c.1856T>A (p.Leu619Gln)
|
rs151038616
|
0.00011
|
NM_001271938.2(MEGF8):c.8139C>T (p.Ser2713=)
|
rs199681302
|
0.00011
|
NM_001278689.2(EOGT):c.816C>T (p.Ile272=)
|
rs554241529
|
0.00011
|
NM_001429.4(EP300):c.2351C>T (p.Pro784Leu)
|
rs201480900
|
0.00011
|
NM_001429.4(EP300):c.3502-13G>A
|
rs547213630
|
0.00011
|
NM_001429.4(EP300):c.376A>G (p.Met126Val)
|
rs200635644
|
0.00011
|
NM_001429.4(EP300):c.454G>A (p.Gly152Ser)
|
rs142758675
|
0.00011
|
NM_001429.4(EP300):c.5461C>A (p.Arg1821=)
|
rs780579609
|
0.00011
|
NM_001999.4(FBN2):c.1651A>G (p.Asn551Asp)
|
rs138389072
|
0.00011
|
NM_001999.4(FBN2):c.1850-14A>G
|
rs201359451
|
0.00011
|
NM_001999.4(FBN2):c.6285A>G (p.Arg2095=)
|
rs28763933
|
0.00011
|
NM_001999.4(FBN2):c.7180A>G (p.Ile2394Val)
|
rs141854054
|
0.00011
|
NM_001999.4(FBN2):c.7942C>A (p.Gln2648Lys)
|
rs375316758
|
0.00011
|
NM_003334.4(UBA1):c.812-4G>A
|
rs372842152
|
0.00011
|
NM_004380.3(CREBBP):c.6852C>G (p.Thr2284=)
|
rs201161108
|
0.00011
|
NM_005236.3(ERCC4):c.793-13A>T
|
rs201159142
|
0.00011
|
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys)
|
rs41286300
|
0.00011
|
NM_017617.5(NOTCH1):c.1837C>T (p.Arg613Cys)
|
rs763988265
|
0.00011
|
NM_017617.5(NOTCH1):c.4828G>T (p.Ala1610Ser)
|
rs369467132
|
0.00011
|
NM_020436.5(SALL4):c.1871C>T (p.Thr624Met)
|
rs146604877
|
0.00011
|
NM_022458.4(LMBR1):c.*2596A>G
|
rs550168152
|
0.00011
|
NM_022458.4(LMBR1):c.-91C>G
|
rs3735184
|
0.00011
|
NM_022458.4(LMBR1):c.432A>G (p.Arg144=)
|
rs141871054
|
0.00011
|
NM_022458.4(LMBR1):c.61T>A (p.Ser21Thr)
|
rs367632078
|
0.00011
|
NM_032444.4(SLX4):c.1925-13A>T
|
rs201324113
|
0.00011
|
NM_032444.4(SLX4):c.833G>A (p.Arg278Gln)
|
rs201192909
|
0.00011
|
NM_153717.3(EVC):c.2298C>T (p.Asp766=)
|
rs140546984
|
0.00011
|
NM_153717.3(EVC):c.473C>G (p.Ser158Cys)
|
rs150284356
|
0.00011
|
NM_173660.5(DOK7):c.189C>T (p.Cys63=)
|
rs372989037
|
0.00011
|
NM_001018113.3(FANCB):c.2342A>G (p.Glu781Gly)
|
rs140363445
|
0.00010
|
NM_001018113.3(FANCB):c.504C>G (p.Ser168=)
|
rs373738816
|
0.00010
|
NM_001374353.1(GLI2):c.1260C>T (p.Thr420=)
|
rs200497671
|
0.00010
|
NM_001429.4(EP300):c.2925A>G (p.Glu975=)
|
rs75752076
|
0.00010
|
NM_001999.4(FBN2):c.157G>A (p.Gly53Ser)
|
rs146807421
|
0.00010
|
NM_001999.4(FBN2):c.158G>A (p.Gly53Asp)
|
rs375093230
|
0.00010
|
NM_001999.4(FBN2):c.2856G>T (p.Thr952=)
|
rs556038110
|
0.00010
|
NM_001999.4(FBN2):c.3217+13G>A
|
rs572013507
|
0.00010
|
NM_001999.4(FBN2):c.5983G>A (p.Gly1995Ser)
|
rs145588052
|
0.00010
|
NM_001999.4(FBN2):c.6681A>G (p.Thr2227=)
|
rs145681607
|
0.00010
|
NM_001999.4(FBN2):c.8674G>T (p.Asp2892Tyr)
|
rs557212203
|
0.00010
|
NM_002010.3(FGF9):c.*442T>C
|
rs573811075
|
0.00010
|
NM_002334.4(LRP4):c.4613G>A (p.Arg1538Gln)
|
rs140495790
|
0.00010
|
NM_002470.4(MYH3):c.5074A>G (p.Thr1692Ala)
|
rs140180067
|
0.00010
|
NM_002470.4(MYH3):c.5331C>T (p.Ser1777=)
|
rs200111154
|
0.00010
|
NM_003334.4(UBA1):c.1482C>T (p.Cys494=)
|
rs782484295
|
0.00010
|
NM_003334.4(UBA1):c.2003+12G>A
|
rs373695438
|
0.00010
|
NM_003334.4(UBA1):c.388G>C (p.Val130Leu)
|
rs782523969
|
0.00010
|
NM_003722.5(TP63):c.1877T>G (p.Val626Gly)
|
rs372318389
|
0.00010
|
NM_004380.3(CREBBP):c.5271C>T (p.Gly1757=)
|
rs190121951
|
0.00010
|
NM_017617.5(NOTCH1):c.2636G>A (p.Arg879Gln)
|
rs368011392
|
0.00010
|
NM_017617.5(NOTCH1):c.2969+14G>A
|
rs112192550
|
0.00010
|
NM_017617.5(NOTCH1):c.4372G>A (p.Ala1458Thr)
|
rs200495793
|
0.00010
|
NM_017617.5(NOTCH1):c.4537G>A (p.Gly1513Ser)
|
rs765844768
|
0.00010
|
NM_017617.5(NOTCH1):c.5414T>C (p.Leu1805Pro)
|
rs201779159
|
0.00010
|
NM_017617.5(NOTCH1):c.6788G>A (p.Arg2263Gln)
|
rs200521815
|
0.00010
|
NM_023110.3(FGFR1):c.75G>A (p.Pro25=)
|
rs17175757
|
0.00010
|
NM_133433.4(NIPBL):c.8085G>A (p.Thr2695=)
|
rs201036501
|
0.00010
|
NM_000135.4(FANCA):c.1900+7T>A
|
rs377401016
|
0.00009
|
NM_000135.4(FANCA):c.2309G>A (p.Arg770His)
|
rs145552439
|
0.00009
|
NM_000135.4(FANCA):c.3114C>T (p.Leu1038=)
|
rs55758861
|
0.00009
|
NM_000135.4(FANCA):c.4177G>A (p.Val1393Met)
|
rs199652831
|
0.00009
|
NM_000136.3(FANCC):c.251-20T>C
|
rs370867462
|
0.00009
|
NM_000141.5(FGFR2):c.33C>T (p.Val11=)
|
rs200562301
|
0.00009
|
NM_000474.4(TWIST1):c.330G>A (p.Arg110=)
|
rs199932465
|
0.00009
|
NM_000751.3(CHRND):c.525G>A (p.Thr175=)
|
rs56203086
|
0.00009
|
NM_001271938.2(MEGF8):c.1572C>T (p.Ser524=)
|
rs375943387
|
0.00009
|
NM_001374353.1(GLI2):c.321G>A (p.Pro107=)
|
rs578011257
|
0.00009
|
NM_001429.4(EP300):c.1443G>A (p.Pro481=)
|
rs374768898
|
0.00009
|
NM_001429.4(EP300):c.3162A>G (p.Leu1054=)
|
rs139758629
|
0.00009
|
NM_001429.4(EP300):c.5598G>A (p.Pro1866=)
|
rs560633624
|
0.00009
|
NM_001999.4(FBN2):c.3013T>C (p.Leu1005=)
|
rs147633551
|
0.00009
|
NM_001999.4(FBN2):c.3655A>G (p.Met1219Val)
|
rs201288931
|
0.00009
|
NM_002334.4(LRP4):c.2092+17C>T
|
rs200761003
|
0.00009
|
NM_003334.4(UBA1):c.2929G>A (p.Asp977Asn)
|
rs200629777
|
0.00009
|
NM_003334.4(UBA1):c.574C>T (p.Arg192Trp)
|
rs185589110
|
0.00009
|
NM_003722.5(TP63):c.*2318G>A
|
rs199834330
|
0.00009
|
NM_004380.3(CREBBP):c.2854G>A (p.Val952Met)
|
rs369930675
|
0.00009
|
NM_004380.3(CREBBP):c.5667G>A (p.Pro1889=)
|
rs377023934
|
0.00009
|
NM_004380.3(CREBBP):c.5769C>T (p.Ser1923=)
|
rs772392148
|
0.00009
|
NM_004380.3(CREBBP):c.681T>C (p.Pro227=)
|
rs201193684
|
0.00009
|
NM_004629.2(FANCG):c.375C>G (p.Val125=)
|
rs199754122
|
0.00009
|
NM_004629.2(FANCG):c.646+15T>C
|
rs551775705
|
0.00009
|
NM_004629.2(FANCG):c.647-16C>A
|
rs200107462
|
0.00009
|
NM_005445.4(SMC3):c.1581T>C (p.His527=)
|
rs182445355
|
0.00009
|
NM_005592.4(MUSK):c.2532A>G (p.Ala844=)
|
rs193214210
|
0.00009
|
NM_005592.4(MUSK):c.312T>C (p.Gly104=)
|
rs56181115
|
0.00009
|
NM_006147.4(IRF6):c.9C>T (p.Leu3=)
|
rs78599614
|
0.00009
|
NM_014918.5(CHSY1):c.320+6C>T
|
rs553473414
|
0.00009
|
NM_017617.5(NOTCH1):c.4157C>T (p.Pro1386Leu)
|
rs367710569
|
0.00009
|
NM_017617.5(NOTCH1):c.4290C>T (p.Tyr1430=)
|
rs78857347
|
0.00009
|
NM_017617.5(NOTCH1):c.4652G>T (p.Ser1551Ile)
|
rs774068657
|
0.00009
|
NM_017617.5(NOTCH1):c.527G>A (p.Arg176Gln)
|
rs375065108
|
0.00009
|
NM_017617.5(NOTCH1):c.999C>T (p.Ser333=)
|
rs751646144
|
0.00009
|
NM_018486.3(HDAC8):c.20C>G (p.Pro7Arg)
|
rs147689487
|
0.00009
|
NM_021922.3(FANCE):c.1317-11C>T
|
rs147572271
|
0.00009
|
NM_022458.4(LMBR1):c.*1470G>A
|
rs549976103
|
0.00009
|
NM_022458.4(LMBR1):c.770C>T (p.Ser257Leu)
|
rs182641358
|
0.00009
|
NM_023110.3(FGFR1):c.375G>A (p.Ser125=)
|
rs17182296
|
0.00009
|
NM_032043.3(BRIP1):c.93+15G>A
|
rs113052745
|
0.00009
|
NM_133433.4(NIPBL):c.1151A>G (p.Asn384Ser)
|
rs2291703
|
0.00009
|
NM_138959.3(VANGL1):c.1127A>G (p.Gln376Arg)
|
rs200389969
|
0.00009
|
NM_147127.5(EVC2):c.2077G>A (p.Val693Ile)
|
rs199824658
|
0.00009
|
NM_173660.5(DOK7):c.1290G>A (p.Ala430=)
|
rs538047872
|
0.00009
|
NM_181486.4(TBX5):c.1152G>A (p.Ala384=)
|
rs200073406
|
0.00009
|
NM_000059.4(BRCA2):c.9501+3A>T
|
rs61757642
|
0.00008
|
NM_000079.4(CHRNA1):c.723C>T (p.Pro241=)
|
rs189442556
|
0.00008
|
NM_000135.4(FANCA):c.2856G>C (p.Gln952His)
|
rs200093209
|
0.00008
|
NM_001018113.3(FANCB):c.127T>A (p.Leu43Ile)
|
rs771007866
|
0.00008
|
NM_001018113.3(FANCB):c.330A>C (p.Leu110=)
|
rs201633684
|
0.00008
|
NM_001018113.3(FANCB):c.362G>A (p.Arg121His)
|
rs142289802
|
0.00008
|
NM_001271938.2(MEGF8):c.2919C>T (p.His973=)
|
rs766105588
|
0.00008
|
NM_001271938.2(MEGF8):c.4743G>C (p.Met1581Ile)
|
rs77422116
|
0.00008
|
NM_001429.4(EP300):c.2671A>C (p.Thr891Pro)
|
rs200499648
|
0.00008
|
NM_001429.4(EP300):c.45G>A (p.Arg15=)
|
rs752119517
|
0.00008
|
NM_001429.4(EP300):c.6729C>T (p.Gly2243=)
|
rs765194008
|
0.00008
|
NM_001429.4(EP300):c.752A>G (p.Asn251Ser)
|
rs142009367
|
0.00008
|
NM_001999.4(FBN2):c.3518C>G (p.Thr1173Ser)
|
rs199678757
|
0.00008
|
NM_002465.4(MYBPC1):c.178+7G>A
|
rs376040468
|
0.00008
|
NM_002465.4(MYBPC1):c.17A>T (p.Lys6Met)
|
rs201472372
|
0.00008
|
NM_003334.4(UBA1):c.1243G>A (p.Gly415Arg)
|
rs373305404
|
0.00008
|
NM_003334.4(UBA1):c.2449G>A (p.Ala817Thr)
|
rs371005753
|
0.00008
|
NM_003334.4(UBA1):c.679-16C>T
|
rs200690232
|
0.00008
|
NM_005236.3(ERCC4):c.2545C>G (p.Gln849Glu)
|
rs374186605
|
0.00008
|
NM_006265.3(RAD21):c.582G>A (p.Glu194=)
|
rs201468757
|
0.00008
|
NM_006306.4(SMC1A):c.1923G>A (p.Leu641=)
|
rs782123095
|
0.00008
|
NM_017617.5(NOTCH1):c.147C>T (p.Gly49=)
|
rs746002433
|
0.00008
|
NM_017617.5(NOTCH1):c.2295C>T (p.Gly765=)
|
rs144066379
|
0.00008
|
NM_017617.5(NOTCH1):c.4373C>T (p.Ala1458Val)
|
rs374352922
|
0.00008
|
NM_017617.5(NOTCH1):c.5193G>A (p.Pro1731=)
|
rs773981674
|
0.00008
|
NM_017617.5(NOTCH1):c.6083-4G>A
|
rs570242146
|
0.00008
|
NM_017617.5(NOTCH1):c.6714C>T (p.Pro2238=)
|
rs201499253
|
0.00008
|
NM_017617.5(NOTCH1):c.7313C>T (p.Pro2438Leu)
|
rs199777870
|
0.00008
|
NM_020639.3(RIPK4):c.1980C>T (p.Gly660=)
|
rs144946647
|
0.00008
|
NM_020937.4(FANCM):c.4222+18dup
|
rs760075544
|
0.00008
|
NM_022458.4(LMBR1):c.474G>A (p.Ala158=)
|
rs201832150
|
0.00008
|
NM_022725.4(FANCF):c.970A>G (p.Lys324Glu)
|
rs200416138
|
0.00008
|
NM_023110.3(FGFR1):c.1888C>T (p.Leu630=)
|
rs746123129
|
0.00008
|
NM_023110.3(FGFR1):c.297T>C (p.Tyr99=)
|
rs552562422
|
0.00008
|
NM_032444.4(SLX4):c.630A>G (p.Leu210=)
|
rs746155183
|
0.00008
|
NM_153717.3(EVC):c.1564-6C>T
|
rs188245524
|
0.00008
|
NM_000079.4(CHRNA1):c.813G>A (p.Leu271=)
|
rs374093236
|
0.00007
|
NM_000135.4(FANCA):c.3420C>T (p.Asn1140=)
|
rs369765552
|
0.00007
|
NM_000751.3(CHRND):c.620-8G>A
|
rs377074477
|
0.00007
|
NM_001164508.2(NEB):c.2475C>T (p.Asp825=)
|
rs180881237
|
0.00007
|
NM_001374353.1(GLI2):c.3123C>T (p.Asp1041=)
|
rs773098021
|
0.00007
|
NM_001999.4(FBN2):c.2096-19G>A
|
rs369377429
|
0.00007
|
NM_001999.4(FBN2):c.2480G>A (p.Arg827Gln)
|
rs150735582
|
0.00007
|
NM_001999.4(FBN2):c.5495G>A (p.Arg1832His)
|
rs140276399
|
0.00007
|
NM_001999.4(FBN2):c.8351C>T (p.Pro2784Leu)
|
rs144574441
|
0.00007
|
NM_001999.4(FBN2):c.8530G>A (p.Val2844Ile)
|
rs147134796
|
0.00007
|
NM_002465.4(MYBPC1):c.1651C>T (p.Leu551=)
|
rs141026830
|
0.00007
|
NM_002465.4(MYBPC1):c.2271G>A (p.Thr757=)
|
rs764196097
|
0.00007
|
NM_002470.4(MYH3):c.1703A>G (p.Lys568Arg)
|
rs200780612
|
0.00007
|
NM_003334.4(UBA1):c.2368T>C (p.Phe790Leu)
|
rs781842141
|
0.00007
|
NM_003334.4(UBA1):c.253G>A (p.Val85Met)
|
rs782796398
|
0.00007
|
NM_003334.4(UBA1):c.720C>T (p.His240=)
|
rs193168226
|
0.00007
|
NM_005105.5(RBM8A):c.128-9C>T
|
rs185927426
|
0.00007
|
NM_005592.4(MUSK):c.1245G>C (p.Glu415Asp)
|
rs558259191
|
0.00007
|
NM_006306.4(SMC1A):c.1911+12C>G
|
rs200324148
|
0.00007
|
NM_006306.4(SMC1A):c.2562+17T>G
|
rs782781158
|
0.00007
|
NM_006306.4(SMC1A):c.2691A>G (p.Lys897=)
|
rs782574044
|
0.00007
|
NM_006306.4(SMC1A):c.3438-18C>T
|
rs781873202
|
0.00007
|
NM_017617.5(NOTCH1):c.1682C>T (p.Thr561Met)
|
rs560030759
|
0.00007
|
NM_017617.5(NOTCH1):c.2192G>A (p.Arg731Gln)
|
rs587778558
|
0.00007
|
NM_017617.5(NOTCH1):c.3853G>A (p.Val1285Met)
|
rs756972680
|
0.00007
|
NM_017617.5(NOTCH1):c.4307C>T (p.Ala1436Val)
|
rs371303106
|
0.00007
|
NM_017617.5(NOTCH1):c.4795G>A (p.Val1599Met)
|
rs543770603
|
0.00007
|
NM_017617.5(NOTCH1):c.4809C>T (p.Asn1603=)
|
rs370523171
|
0.00007
|
NM_017617.5(NOTCH1):c.4927G>A (p.Ala1643Thr)
|
rs566680728
|
0.00007
|
NM_017617.5(NOTCH1):c.6283C>T (p.Arg2095Cys)
|
rs780873661
|
0.00007
|
NM_017617.5(NOTCH1):c.6583G>A (p.Gly2195Ser)
|
rs376422513
|
0.00007
|
NM_017617.5(NOTCH1):c.7397C>T (p.Thr2466Met)
|
rs369167555
|
0.00007
|
NM_018486.3(HDAC8):c.169G>A (p.Val57Ile)
|
rs200737947
|
0.00007
|
NM_020436.5(SALL4):c.696C>T (p.Thr232=)
|
rs376488018
|
0.00007
|
NM_022458.4(LMBR1):c.*2297C>T
|
rs367713862
|
0.00007
|
NM_023110.3(FGFR1):c.359-13C>G
|
rs376369060
|
0.00007
|
NM_032444.4(SLX4):c.2034T>G (p.Val678=)
|
rs200278096
|
0.00007
|
NM_032444.4(SLX4):c.3762G>A (p.Ser1254=)
|
rs3810814
|
0.00007
|
NM_000135.4(FANCA):c.2292G>A (p.Arg764=)
|
rs56267906
|
0.00006
|
NM_000135.4(FANCA):c.3066+16C>T
|
rs199529426
|
0.00006
|
NM_000135.4(FANCA):c.4226G>A (p.Arg1409Gln)
|
rs370507983
|
0.00006
|
NM_000135.4(FANCA):c.4244T>G (p.Phe1415Cys)
|
rs201658945
|
0.00006
|
NM_000141.5(FGFR2):c.1548G>A (p.Val516=)
|
rs200522893
|
0.00006
|
NM_000751.3(CHRND):c.1477G>A (p.Val493Ile)
|
rs567130034
|
0.00006
|
NM_001018113.3(FANCB):c.2265A>G (p.Leu755=)
|
rs777812135
|
0.00006
|
NM_001113378.2(FANCI):c.288+10C>T
|
rs370505986
|
0.00006
|
NM_001374353.1(GLI2):c.315G>A (p.Pro105=)
|
rs139473153
|
0.00006
|
NM_001374353.1(GLI2):c.4208C>G (p.Ala1403Gly)
|
rs370136073
|
0.00006
|
NM_001429.4(EP300):c.1540A>G (p.Met514Val)
|
rs765266179
|
0.00006
|
NM_001429.4(EP300):c.2405C>T (p.Pro802Leu)
|
rs749702423
|
0.00006
|
NM_001429.4(EP300):c.3750C>T (p.Cys1250=)
|
rs747187417
|
0.00006
|
NM_001429.4(EP300):c.5644A>G (p.Ser1882Gly)
|
rs769796204
|
0.00006
|
NM_001429.4(EP300):c.7114A>G (p.Met2372Val)
|
rs768061933
|
0.00006
|
NM_001999.4(FBN2):c.-122G>T
|
rs557716482
|
0.00006
|
NM_001999.4(FBN2):c.1411G>A (p.Val471Ile)
|
rs138046782
|
0.00006
|
NM_001999.4(FBN2):c.1644T>G (p.Asp548Glu)
|
rs182651973
|
0.00006
|
NM_001999.4(FBN2):c.1682A>G (p.His561Arg)
|
rs28763951
|
0.00006
|
NM_001999.4(FBN2):c.2978G>A (p.Arg993His)
|
rs774483323
|
0.00006
|
NM_001999.4(FBN2):c.3405G>A (p.Pro1135=)
|
rs185809581
|
0.00006
|
NM_001999.4(FBN2):c.6573C>T (p.Asp2191=)
|
rs374456115
|
0.00006
|
NM_001999.4(FBN2):c.6982G>T (p.Ala2328Ser)
|
rs199910288
|
0.00006
|
NM_001999.4(FBN2):c.8058C>A (p.Phe2686Leu)
|
rs150734807
|
0.00006
|
NM_001999.4(FBN2):c.8520C>T (p.Asn2840=)
|
rs139098335
|
0.00006
|
NM_002470.4(MYH3):c.3039T>C (p.Ala1013=)
|
rs142131471
|
0.00006
|
NM_002470.4(MYH3):c.3462G>A (p.Ala1154=)
|
rs201553125
|
0.00006
|
NM_002470.4(MYH3):c.5660A>G (p.Asp1887Gly)
|
rs147304568
|
0.00006
|
NM_003334.4(UBA1):c.351C>T (p.Tyr117=)
|
rs782799228
|
0.00006
|
NM_003722.5(TP63):c.*379T>A
|
rs192879052
|
0.00006
|
NM_003722.5(TP63):c.387G>A (p.Ser129=)
|
rs151335217
|
0.00006
|
NM_004380.3(CREBBP):c.5361C>T (p.Asn1787=)
|
rs375462934
|
0.00006
|
NM_004380.3(CREBBP):c.5973G>A (p.Pro1991=)
|
rs539366777
|
0.00006
|
NM_005055.5(RAPSN):c.690+10C>T
|
rs78293924
|
0.00006
|
NM_005236.3(ERCC4):c.389-5C>T
|
rs377224276
|
0.00006
|
NM_006306.4(SMC1A):c.2034G>A (p.Lys678=)
|
rs782008528
|
0.00006
|
NM_017617.5(NOTCH1):c.1510C>T (p.Arg504Cys)
|
rs752071569
|
0.00006
|
NM_017617.5(NOTCH1):c.1945C>A (p.Pro649Thr)
|
rs780710009
|
0.00006
|
NM_017617.5(NOTCH1):c.2620G>A (p.Val874Ile)
|
rs776698364
|
0.00006
|
NM_017617.5(NOTCH1):c.2640C>T (p.His880=)
|
rs374946182
|
0.00006
|
NM_017617.5(NOTCH1):c.3270C>T (p.Thr1090=)
|
rs773990513
|
0.00006
|
NM_017617.5(NOTCH1):c.3338C>T (p.Ala1113Val)
|
rs377351349
|
0.00006
|
NM_017617.5(NOTCH1):c.3788G>A (p.Arg1263His)
|
rs377594681
|
0.00006
|
NM_017617.5(NOTCH1):c.448G>A (p.Ala150Thr)
|
rs372660483
|
0.00006
|
NM_017617.5(NOTCH1):c.4756C>T (p.Arg1586Cys)
|
rs1418474023
|
0.00006
|
NM_017617.5(NOTCH1):c.5718G>A (p.Ala1906=)
|
rs369730620
|
0.00006
|
NM_017617.5(NOTCH1):c.5776C>T (p.Arg1926Cys)
|
rs199652954
|
0.00006
|
NM_017617.5(NOTCH1):c.7130C>T (p.Pro2377Leu)
|
rs761839390
|
0.00006
|
NM_017617.5(NOTCH1):c.7292G>A (p.Arg2431Gln)
|
rs753752321
|
0.00006
|
NM_017617.5(NOTCH1):c.7363A>G (p.Thr2455Ala)
|
rs536167222
|
0.00006
|
NM_017617.5(NOTCH1):c.975C>T (p.Asn325=)
|
rs746111102
|
0.00006
|
NM_020436.5(SALL4):c.2028C>T (p.Asn676=)
|
rs755057820
|
0.00006
|
NM_022458.4(LMBR1):c.*2066G>C
|
rs560208746
|
0.00006
|
NM_022458.4(LMBR1):c.1026G>A (p.Thr342=)
|
rs140247020
|
0.00006
|
NM_022725.4(FANCF):c.148C>T (p.Arg50Trp)
|
rs577253174
|
0.00006
|
NM_023110.3(FGFR1):c.1285-15C>T
|
rs760069564
|
0.00006
|
NM_032043.3(BRIP1):c.2232C>T (p.Asp744=)
|
rs374362388
|
0.00006
|
NM_130468.4(CHST14):c.567G>A (p.Val189=)
|
rs758319940
|
0.00006
|
NM_133433.4(NIPBL):c.6438C>T (p.Thr2146=)
|
rs376448686
|
0.00006
|
NM_181486.4(TBX5):c.786C>T (p.Thr262=)
|
rs375955080
|
0.00006
|
NM_000135.4(FANCA):c.1049G>A (p.Arg350Gln)
|
rs199967286
|
0.00005
|
NM_000136.3(FANCC):c.1329+306C>T
|
rs185023012
|
0.00005
|
NM_000136.3(FANCC):c.1494T>C (p.Ala498=)
|
rs76895298
|
0.00005
|
NM_001018113.3(FANCB):c.1494G>T (p.Lys498Asn)
|
rs199510538
|
0.00005
|
NM_001018113.3(FANCB):c.2165+10A>T
|
rs184385334
|
0.00005
|
NM_001018115.3(FANCD2):c.1675A>G (p.Ile559Val)
|
rs201408009
|
0.00005
|
NM_001113378.2(FANCI):c.1263C>T (p.Leu421=)
|
rs376956791
|
0.00005
|
NM_001271938.2(MEGF8):c.1116C>T (p.Ser372=)
|
rs746659886
|
0.00005
|
NM_001271938.2(MEGF8):c.5751A>G (p.Pro1917=)
|
rs200526872
|
0.00005
|
NM_001374353.1(GLI2):c.1383G>A (p.Thr461=)
|
rs768606373
|
0.00005
|
NM_001374353.1(GLI2):c.1947C>T (p.Ser649=)
|
rs528985094
|
0.00005
|
NM_001429.4(EP300):c.4503G>A (p.Leu1501=)
|
rs368320273
|
0.00005
|
NM_001999.4(FBN2):c.1139C>T (p.Pro380Leu)
|
rs139189178
|
0.00005
|
NM_001999.4(FBN2):c.1720A>G (p.Ile574Val)
|
rs768073096
|
0.00005
|
NM_001999.4(FBN2):c.3414T>C (p.Phe1138=)
|
rs769005512
|
0.00005
|
NM_001999.4(FBN2):c.6138G>T (p.Gly2046=)
|
rs150627604
|
0.00005
|
NM_001999.4(FBN2):c.6297T>C (p.Thr2099=)
|
rs770778839
|
0.00005
|
NM_003334.4(UBA1):c.1197C>T (p.Ala399=)
|
rs782593880
|
0.00005
|
NM_003334.4(UBA1):c.1543C>A (p.Arg515=)
|
rs150198324
|
0.00005
|
NM_003334.4(UBA1):c.1791G>A (p.Glu597=)
|
rs372366129
|
0.00005
|
NM_003334.4(UBA1):c.2839-7C>T
|
rs199797125
|
0.00005
|
NM_003334.4(UBA1):c.678+18A>T
|
rs782509809
|
0.00005
|
NM_003334.4(UBA1):c.798G>A (p.Glu266=)
|
rs202041421
|
0.00005
|
NM_004380.3(CREBBP):c.177T>A (p.Leu59=)
|
rs201027381
|
0.00005
|
NM_004380.3(CREBBP):c.3060+10G>A
|
rs398124143
|
0.00005
|
NM_004380.3(CREBBP):c.414C>T (p.Ala138=)
|
rs542552676
|
0.00005
|
NM_004380.3(CREBBP):c.6195C>T (p.Ser2065=)
|
rs374150949
|
0.00005
|
NM_005055.5(RAPSN):c.363C>T (p.Leu121=)
|
rs190548363
|
0.00005
|
NM_006306.4(SMC1A):c.756C>T (p.Asp252=)
|
rs370671274
|
0.00005
|
NM_006306.4(SMC1A):c.825G>A (p.Arg275=)
|
rs150488530
|
0.00005
|
NM_017617.5(NOTCH1):c.1664C>T (p.Thr555Met)
|
rs746796894
|
0.00005
|
NM_017617.5(NOTCH1):c.1774C>T (p.Arg592Cys)
|
rs1472690723
|
0.00005
|
NM_017617.5(NOTCH1):c.2355T>C (p.Gly785=)
|
rs199719103
|
0.00005
|
NM_017617.5(NOTCH1):c.2388G>A (p.Ala796=)
|
rs561956078
|
0.00005
|
NM_017617.5(NOTCH1):c.2521G>A (p.Gly841Ser)
|
rs369259434
|
0.00005
|
NM_017617.5(NOTCH1):c.2783C>T (p.Thr928Met)
|
rs764921648
|
0.00005
|
NM_017617.5(NOTCH1):c.2908A>G (p.Thr970Ala)
|
rs201053795
|
0.00005
|
NM_017617.5(NOTCH1):c.3553G>A (p.Asp1185Asn)
|
rs548083258
|
0.00005
|
NM_017617.5(NOTCH1):c.382C>T (p.Arg128Cys)
|
rs371868900
|
0.00005
|
NM_017617.5(NOTCH1):c.4046C>T (p.Ala1349Val)
|
rs752951296
|
0.00005
|
NM_017617.5(NOTCH1):c.4137G>A (p.Thr1379=)
|
rs762733162
|
0.00005
|
NM_017617.5(NOTCH1):c.4238G>A (p.Arg1413His)
|
rs371068504
|
0.00005
|
NM_017617.5(NOTCH1):c.4492A>G (p.Lys1498Glu)
|
rs745681787
|
0.00005
|
NM_017617.5(NOTCH1):c.4793G>A (p.Arg1598His)
|
rs755124691
|
0.00005
|
NM_017617.5(NOTCH1):c.4981C>T (p.Arg1661Trp)
|
rs998433493
|
0.00005
|
NM_017617.5(NOTCH1):c.5223G>A (p.Ala1741=)
|
rs766444406
|
0.00005
|
NM_017617.5(NOTCH1):c.5248G>A (p.Val1750Met)
|
rs368396893
|
0.00005
|
NM_017617.5(NOTCH1):c.7016C>A (p.Ala2339Asp)
|
rs773134608
|
0.00005
|
NM_017617.5(NOTCH1):c.7229C>T (p.Pro2410Leu)
|
rs560981171
|
0.00005
|
NM_018486.3(HDAC8):c.639C>T (p.Asp213=)
|
rs142540077
|
0.00005
|
NM_022458.4(LMBR1):c.*2820G>A
|
rs550075183
|
0.00005
|
NM_133433.4(NIPBL):c.1591A>G (p.Thr531Ala)
|
rs587783890
|
0.00005
|
NM_138959.3(VANGL1):c.*707C>T
|
rs562969850
|
0.00005
|
NM_147127.5(EVC2):c.209G>T (p.Gly70Val)
|
rs754380041
|
0.00005
|
NM_000135.4(FANCA):c.1951G>A (p.Gly651Arg)
|
rs140785340
|
0.00004
|
NM_000135.4(FANCA):c.3576G>A (p.Pro1192=)
|
rs553086820
|
0.00004
|
NM_000557.5(GDF5):c.*387T>C
|
rs553655935
|
0.00004
|
NM_000557.5(GDF5):c.*389C>T
|
rs535023630
|
0.00004
|
NM_000751.3(CHRND):c.1252+10C>T
|
rs373581541
|
0.00004
|
NM_000751.3(CHRND):c.611G>T (p.Gly204Val)
|
rs531000772
|
0.00004
|
NM_001018113.3(FANCB):c.2394C>T (p.Val798=)
|
rs190579053
|
0.00004
|
NM_001018113.3(FANCB):c.513G>A (p.Gln171=)
|
rs763353362
|
0.00004
|
NM_001113378.2(FANCI):c.3705C>T (p.Ala1235=)
|
rs185771112
|
0.00004
|
NM_001374353.1(GLI2):c.546C>T (p.Leu182=)
|
rs200028917
|
0.00004
|
NM_001429.4(EP300):c.2359G>A (p.Gly787Ser)
|
rs564786569
|
0.00004
|
NM_001429.4(EP300):c.2756G>A (p.Ser919Asn)
|
rs141403873
|
0.00004
|
NM_001429.4(EP300):c.5683C>T (p.Pro1895Ser)
|
rs749979249
|
0.00004
|
NM_001999.4(FBN2):c.1103C>T (p.Ser368Leu)
|
rs562268545
|
0.00004
|
NM_001999.4(FBN2):c.1313G>A (p.Gly438Glu)
|
rs751545674
|
0.00004
|
NM_001999.4(FBN2):c.1400T>C (p.Phe467Ser)
|
rs779849582
|
0.00004
|
NM_001999.4(FBN2):c.2363G>A (p.Arg788His)
|
rs368116715
|
0.00004
|
NM_001999.4(FBN2):c.3793G>A (p.Glu1265Lys)
|
rs776031352
|
0.00004
|
NM_001999.4(FBN2):c.4286C>T (p.Pro1429Leu)
|
rs771467729
|
0.00004
|
NM_001999.4(FBN2):c.4418G>A (p.Arg1473His)
|
rs140812463
|
0.00004
|
NM_001999.4(FBN2):c.6153C>T (p.Ser2051=)
|
rs888075207
|
0.00004
|
NM_001999.4(FBN2):c.6539G>A (p.Gly2180Asp)
|
rs537628586
|
0.00004
|
NM_001999.4(FBN2):c.8230T>G (p.Tyr2744Asp)
|
rs752138290
|
0.00004
|
NM_002465.4(MYBPC1):c.104-10C>A
|
rs373075518
|
0.00004
|
NM_002465.4(MYBPC1):c.2539C>T (p.Arg847Cys)
|
rs768199021
|
0.00004
|
NM_002470.4(MYH3):c.2517C>A (p.Pro839=)
|
rs577088293
|
0.00004
|
NM_002470.4(MYH3):c.4323C>T (p.Ala1441=)
|
rs185355384
|
0.00004
|
NM_002470.4(MYH3):c.4941C>T (p.Val1647=)
|
rs143855213
|
0.00004
|
NM_003334.4(UBA1):c.1610G>A (p.Arg537His)
|
rs372418523
|
0.00004
|
NM_003334.4(UBA1):c.177-11del
|
rs781797300
|
0.00004
|
NM_003334.4(UBA1):c.2376G>A (p.Gln792=)
|
rs782085921
|
0.00004
|
NM_003334.4(UBA1):c.3123C>T (p.Asn1041=)
|
rs781864389
|
0.00004
|
NM_003722.5(TP63):c.1465G>A (p.Ala489Thr)
|
rs138832017
|
0.00004
|
NM_004380.3(CREBBP):c.5666C>T (p.Pro1889Leu)
|
rs143180774
|
0.00004
|
NM_004380.3(CREBBP):c.5794A>G (p.Thr1932Ala)
|
rs749249146
|
0.00004
|
NM_004380.3(CREBBP):c.5930T>A (p.Ile1977Asn)
|
rs754429038
|
0.00004
|
NM_004380.3(CREBBP):c.6433A>G (p.Met2145Val)
|
rs758386187
|
0.00004
|
NM_004380.3(CREBBP):c.6678G>A (p.Ala2226=)
|
rs750845399
|
0.00004
|
NM_004380.3(CREBBP):c.7089G>A (p.Pro2363=)
|
rs199610814
|
0.00004
|
NM_004629.2(FANCG):c.77A>G (p.Gln26Arg)
|
rs200677800
|
0.00004
|
NM_005592.4(MUSK):c.207-5T>C
|
rs779359576
|
0.00004
|
NM_005592.4(MUSK):c.2283C>T (p.Asn761=)
|
rs777419932
|
0.00004
|
NM_005592.4(MUSK):c.2286C>T (p.Asp762=)
|
rs199832657
|
0.00004
|
NM_006306.4(SMC1A):c.1347A>C (p.Leu449=)
|
rs142531536
|
0.00004
|
NM_006306.4(SMC1A):c.3438-3C>T
|
rs782161734
|
0.00004
|
NM_006306.4(SMC1A):c.854+17G>A
|
rs781860125
|
0.00004
|
NM_014918.5(CHSY1):c.1701C>T (p.Leu567=)
|
rs192677621
|
0.00004
|
NM_016277.5(RAB23):c.534T>C (p.Ala178=)
|
rs201820320
|
0.00004
|
NM_017617.5(NOTCH1):c.1120G>A (p.Asp374Asn)
|
rs770729642
|
0.00004
|
NM_017617.5(NOTCH1):c.1206G>A (p.Ser402=)
|
rs746848165
|
0.00004
|
NM_017617.5(NOTCH1):c.1376A>G (p.Asn459Ser)
|
rs574143345
|
0.00004
|
NM_017617.5(NOTCH1):c.1670-10C>T
|
rs751747178
|
0.00004
|
NM_017617.5(NOTCH1):c.1864G>A (p.Asp622Asn)
|
rs367873715
|
0.00004
|
NM_017617.5(NOTCH1):c.1869C>T (p.Asn623=)
|
rs376726823
|
0.00004
|
NM_017617.5(NOTCH1):c.1904-10A>G
|
rs200896186
|
0.00004
|
NM_017617.5(NOTCH1):c.2002C>G (p.Pro668Ala)
|
rs780810308
|
0.00004
|
NM_017617.5(NOTCH1):c.2576C>T (p.Thr859Met)
|
rs199505287
|
0.00004
|
NM_017617.5(NOTCH1):c.3320G>A (p.Arg1107Gln)
|
rs756087913
|
0.00004
|
NM_017617.5(NOTCH1):c.3373G>A (p.Ala1125Thr)
|
rs767963898
|
0.00004
|
NM_017617.5(NOTCH1):c.3374C>T (p.Ala1125Val)
|
rs200871631
|
0.00004
|
NM_017617.5(NOTCH1):c.3483G>A (p.Thr1161=)
|
rs369392246
|
0.00004
|
NM_017617.5(NOTCH1):c.3700C>T (p.Arg1234Trp)
|
rs761304479
|
0.00004
|
NM_017617.5(NOTCH1):c.3887G>A (p.Arg1296His)
|
rs368400902
|
0.00004
|
NM_017617.5(NOTCH1):c.3980A>G (p.Asn1327Ser)
|
rs751874720
|
0.00004
|
NM_017617.5(NOTCH1):c.3989G>A (p.Arg1330His)
|
rs1180096756
|
0.00004
|
NM_017617.5(NOTCH1):c.4185C>T (p.Asn1395=)
|
rs749570626
|
0.00004
|
NM_017617.5(NOTCH1):c.4222G>A (p.Glu1408Lys)
|
rs587778569
|
0.00004
|
NM_017617.5(NOTCH1):c.4426G>A (p.Gly1476Ser)
|
rs776133530
|
0.00004
|
NM_017617.5(NOTCH1):c.5219C>T (p.Ala1740Val)
|
rs777962754
|
0.00004
|
NM_017617.5(NOTCH1):c.5542C>A (p.Leu1848Met)
|
rs35652719
|
0.00004
|
NM_017617.5(NOTCH1):c.5724C>T (p.Ala1908=)
|
rs555773558
|
0.00004
|
NM_017617.5(NOTCH1):c.573C>T (p.His191=)
|
rs763733336
|
0.00004
|
NM_017617.5(NOTCH1):c.6120T>C (p.Asn2040=)
|
rs201625763
|
0.00004
|
NM_017617.5(NOTCH1):c.6150C>T (p.Asn2050=)
|
rs757372588
|
0.00004
|
NM_017617.5(NOTCH1):c.6222C>T (p.Tyr2074=)
|
rs764551640
|
0.00004
|
NM_017617.5(NOTCH1):c.6284G>A (p.Arg2095His)
|
rs756874994
|
0.00004
|
NM_017617.5(NOTCH1):c.6383C>T (p.Pro2128Leu)
|
rs770713134
|
0.00004
|
NM_017617.5(NOTCH1):c.6521A>G (p.Lys2174Arg)
|
rs761602495
|
0.00004
|
NM_017617.5(NOTCH1):c.6727G>A (p.Gly2243Ser)
|
rs61751491
|
0.00004
|
NM_017617.5(NOTCH1):c.7498C>G (p.His2500Asp)
|
rs763902589
|
0.00004
|
NM_017617.5(NOTCH1):c.7585G>A (p.Val2529Ile)
|
rs1052013977
|
0.00004
|
NM_017617.5(NOTCH1):c.7653G>A (p.Pro2551=)
|
rs759443061
|
0.00004
|
NM_017617.5(NOTCH1):c.825C>T (p.Gly275=)
|
rs61751556
|
0.00004
|
NM_018062.4(FANCL):c.375-15T>C
|
rs767038810
|
0.00004
|
NM_018062.4(FANCL):c.739A>G (p.Met247Val)
|
rs561027973
|
0.00004
|
NM_018062.4(FANCL):c.755T>G (p.Phe252Cys)
|
rs139801716
|
0.00004
|
NM_018486.3(HDAC8):c.522C>T (p.Tyr174=)
|
rs146015223
|
0.00004
|
NM_021922.3(FANCE):c.1509C>T (p.Asn503=)
|
rs147166240
|
0.00004
|
NM_023110.3(FGFR1):c.1176G>A (p.Gly392=)
|
rs56273573
|
0.00004
|
NM_023110.3(FGFR1):c.449-8C>A
|
rs551551806
|
0.00004
|
NM_023110.3(FGFR1):c.92-14C>T
|
rs547772178
|
0.00004
|
NM_032043.3(BRIP1):c.1935+7T>C
|
rs201024366
|
0.00004
|
NM_032444.4(SLX4):c.489T>G (p.Gly163=)
|
rs201211891
|
0.00004
|
NM_032444.4(SLX4):c.5372G>A (p.Arg1791His)
|
rs560381786
|
0.00004
|
NM_032634.4(PIGO):c.2198G>A (p.Arg733Gln)
|
rs373305585
|
0.00004
|
NM_133433.4(NIPBL):c.1376T>G (p.Ile459Arg)
|
rs150837768
|
0.00004
|
NM_133433.4(NIPBL):c.4906C>T (p.Arg1636Cys)
|
rs149451089
|
0.00004
|
NM_147127.5(EVC2):c.1040C>T (p.Pro347Leu)
|
rs199708349
|
0.00004
|
NM_147127.5(EVC2):c.1146-5C>G
|
rs746188195
|
0.00004
|
NM_147127.5(EVC2):c.3024G>A (p.Ser1008=)
|
rs372719753
|
0.00004
|
NM_153717.3(EVC):c.1269G>A (p.Thr423=)
|
rs551881521
|
0.00004
|
NM_181486.4(TBX5):c.791G>A (p.Arg264Lys)
|
rs201071418
|
0.00004
|
NM_001018113.3(FANCB):c.1638A>T (p.Gly546=)
|
rs753355273
|
0.00003
|
NM_001018113.3(FANCB):c.1987A>G (p.Thr663Ala)
|
rs184796918
|
0.00003
|
NM_001018113.3(FANCB):c.2435A>G (p.Tyr812Cys)
|
rs780116069
|
0.00003
|
NM_001429.4(EP300):c.1302C>T (p.Pro434=)
|
rs199901345
|
0.00003
|
NM_001429.4(EP300):c.2393G>A (p.Ser798Asn)
|
rs781326261
|
0.00003
|
NM_001429.4(EP300):c.2594C>T (p.Thr865Ile)
|
rs754168978
|
0.00003
|
NM_001429.4(EP300):c.2744G>A (p.Arg915His)
|
rs748820220
|
0.00003
|
NM_001429.4(EP300):c.6413C>T (p.Ala2138Val)
|
rs587778258
|
0.00003
|
NM_001429.4(EP300):c.7018G>A (p.Val2340Ile)
|
rs558456063
|
0.00003
|
NM_001429.4(EP300):c.923C>T (p.Pro308Leu)
|
rs587778261
|
0.00003
|
NM_001429.4(EP300):c.952C>G (p.Pro318Ala)
|
rs762647727
|
0.00003
|
NM_001999.4(FBN2):c.1423G>A (p.Gly475Ser)
|
rs200440156
|
0.00003
|
NM_001999.4(FBN2):c.1424G>T (p.Gly475Val)
|
rs56312356
|
0.00003
|
NM_001999.4(FBN2):c.2249-12T>C
|
rs776314725
|
0.00003
|
NM_001999.4(FBN2):c.2258A>G (p.His753Arg)
|
rs777266350
|
0.00003
|
NM_001999.4(FBN2):c.244G>A (p.Val82Met)
|
rs550387143
|
0.00003
|
NM_001999.4(FBN2):c.2943G>T (p.Glu981Asp)
|
rs142249689
|
0.00003
|
NM_001999.4(FBN2):c.3093G>A (p.Ala1031=)
|
rs528529593
|
0.00003
|
NM_001999.4(FBN2):c.3820C>T (p.Leu1274=)
|
rs192602314
|
0.00003
|
NM_001999.4(FBN2):c.5191A>G (p.Asn1731Asp)
|
rs1476723489
|
0.00003
|
NM_001999.4(FBN2):c.5353+11G>A
|
rs572393472
|
0.00003
|
NM_001999.4(FBN2):c.5814C>T (p.Cys1938=)
|
rs753556200
|
0.00003
|
NM_001999.4(FBN2):c.5966G>A (p.Arg1989His)
|
rs189964478
|
0.00003
|
NM_001999.4(FBN2):c.6007G>A (p.Glu2003Lys)
|
rs995323393
|
0.00003
|
NM_001999.4(FBN2):c.6505C>T (p.Arg2169Cys)
|
rs1450302477
|
0.00003
|
NM_001999.4(FBN2):c.733C>T (p.Arg245Trp)
|
rs146941428
|
0.00003
|
NM_001999.4(FBN2):c.7525A>G (p.Thr2509Ala)
|
rs752627315
|
0.00003
|
NM_001999.4(FBN2):c.8332A>C (p.Lys2778Gln)
|
rs371715068
|
0.00003
|
NM_001999.4(FBN2):c.8644G>C (p.Glu2882Gln)
|
rs765693576
|
0.00003
|
NM_002334.4(LRP4):c.431-8C>T
|
rs150531536
|
0.00003
|
NM_002465.4(MYBPC1):c.557-10C>T
|
rs529365953
|
0.00003
|
NM_002465.4(MYBPC1):c.750C>A (p.Ile250=)
|
rs761503353
|
0.00003
|
NM_002470.4(MYH3):c.3139G>A (p.Val1047Ile)
|
rs542491960
|
0.00003
|
NM_002968.3(SALL1):c.39A>G (p.Gln13=)
|
rs768989589
|
0.00003
|
NM_003289.4(TPM2):c.-65C>T
|
rs377242459
|
0.00003
|
NM_003334.4(UBA1):c.1152G>A (p.Arg384=)
|
rs782140095
|
0.00003
|
NM_003334.4(UBA1):c.2004-12G>A
|
rs201583168
|
0.00003
|
NM_003334.4(UBA1):c.2275-7C>T
|
rs782291288
|
0.00003
|
NM_003334.4(UBA1):c.2661A>G (p.Ala887=)
|
rs782783941
|
0.00003
|
NM_003334.4(UBA1):c.2913C>T (p.Thr971=)
|
rs782810108
|
0.00003
|
NM_003334.4(UBA1):c.2982G>T (p.Val994=)
|
rs782156608
|
0.00003
|
NM_003334.4(UBA1):c.442A>G (p.Thr148Ala)
|
rs782084400
|
0.00003
|
NM_003334.4(UBA1):c.94G>A (p.Glu32Lys)
|
rs200206019
|
0.00003
|
NM_003722.5(TP63):c.*1464G>T
|
rs571277874
|
0.00003
|
NM_003722.5(TP63):c.900G>A (p.Thr300=)
|
rs372807713
|
0.00003
|
NM_004380.3(CREBBP):c.1758C>T (p.Thr586=)
|
rs138353979
|
0.00003
|
NM_004380.3(CREBBP):c.2570C>T (p.Pro857Leu)
|
rs766086544
|
0.00003
|
NM_004380.3(CREBBP):c.2635C>T (p.Pro879Ser)
|
rs779479811
|
0.00003
|
NM_004380.3(CREBBP):c.4948G>A (p.Val1650Ile)
|
rs776549587
|
0.00003
|
NM_004380.3(CREBBP):c.5115C>T (p.Tyr1705=)
|
rs200287696
|
0.00003
|
NM_004380.3(CREBBP):c.6071C>T (p.Ala2024Val)
|
rs745551441
|
0.00003
|
NM_005445.4(SMC3):c.198+7G>A
|
rs765985488
|
0.00003
|
NM_006147.4(IRF6):c.351T>G (p.Pro117=)
|
rs550521875
|
0.00003
|
NM_006265.3(RAD21):c.1237T>C (p.Leu413=)
|
rs201779352
|
0.00003
|
NM_006306.4(SMC1A):c.1548C>T (p.Tyr516=)
|
rs782547781
|
0.00003
|
NM_006306.4(SMC1A):c.2058+9C>G
|
rs1356800269
|
0.00003
|
NM_006306.4(SMC1A):c.2973+16_2973+17del
|
rs782659050
|
0.00003
|
NM_006306.4(SMC1A):c.412-14T>G
|
rs782106342
|
0.00003
|
NM_006757.4(TNNT3):c.*86C>T
|
rs200540491
|
0.00003
|
NM_017617.5(NOTCH1):c.114A>G (p.Glu38=)
|
rs375506915
|
0.00003
|
NM_017617.5(NOTCH1):c.1262A>G (p.Asn421Ser)
|
rs928512979
|
0.00003
|
NM_017617.5(NOTCH1):c.1543G>C (p.Glu515Gln)
|
rs749085650
|
0.00003
|
NM_017617.5(NOTCH1):c.1747G>A (p.Gly583Ser)
|
rs757066417
|
0.00003
|
NM_017617.5(NOTCH1):c.1801G>A (p.Glu601Lys)
|
rs749381544
|
0.00003
|
NM_017617.5(NOTCH1):c.1868A>G (p.Asn623Ser)
|
rs769696527
|
0.00003
|
NM_017617.5(NOTCH1):c.1889T>C (p.Leu630Pro)
|
rs752513330
|
0.00003
|
NM_017617.5(NOTCH1):c.2003C>T (p.Pro668Leu)
|
rs576030298
|
0.00003
|
NM_017617.5(NOTCH1):c.2107C>T (p.Arg703Cys)
|
rs746213819
|
0.00003
|
NM_017617.5(NOTCH1):c.2442G>A (p.Lys814=)
|
rs544653892
|
0.00003
|
NM_017617.5(NOTCH1):c.2458C>T (p.Pro820Ser)
|
rs1379596542
|
0.00003
|
NM_017617.5(NOTCH1):c.2520C>T (p.Asn840=)
|
rs546222078
|
0.00003
|
NM_017617.5(NOTCH1):c.2635C>T (p.Arg879Trp)
|
rs587778563
|
0.00003
|
NM_017617.5(NOTCH1):c.2725G>A (p.Asp909Asn)
|
rs763217096
|
0.00003
|
NM_017617.5(NOTCH1):c.3245G>A (p.Arg1082His)
|
rs758471372
|
0.00003
|
NM_017617.5(NOTCH1):c.3341G>A (p.Arg1114His)
|
rs777684045
|
0.00003
|
NM_017617.5(NOTCH1):c.362C>T (p.Thr121Met)
|
rs529738206
|
0.00003
|
NM_017617.5(NOTCH1):c.3664G>A (p.Val1222Met)
|
rs112900950
|
0.00003
|
NM_017617.5(NOTCH1):c.4077C>T (p.Asn1359=)
|
rs775108554
|
0.00003
|
NM_017617.5(NOTCH1):c.4078G>A (p.Gly1360Ser)
|
rs769493139
|
0.00003
|
NM_017617.5(NOTCH1):c.4315G>A (p.Asp1439Asn)
|
rs200232299
|
0.00003
|
NM_017617.5(NOTCH1):c.4412C>T (p.Ala1471Val)
|
rs376799353
|
0.00003
|
NM_017617.5(NOTCH1):c.4918G>A (p.Ala1640Thr)
|
rs976118697
|
0.00003
|
NM_017617.5(NOTCH1):c.5014C>T (p.Arg1672Cys)
|
rs745901158
|
0.00003
|
NM_017617.5(NOTCH1):c.526C>T (p.Arg176Trp)
|
rs575513935
|
0.00003
|
NM_017617.5(NOTCH1):c.5422G>A (p.Asp1808Asn)
|
rs571739078
|
0.00003
|
NM_017617.5(NOTCH1):c.5573T>C (p.Met1858Thr)
|
rs375102032
|
0.00003
|
NM_017617.5(NOTCH1):c.5733C>T (p.Ser1911=)
|
rs61751534
|
0.00003
|
NM_017617.5(NOTCH1):c.5901G>A (p.Ala1967=)
|
rs762092431
|
0.00003
|
NM_017617.5(NOTCH1):c.6130G>A (p.Ala2044Thr)
|
rs544856644
|
0.00003
|
NM_017617.5(NOTCH1):c.6149A>G (p.Asn2050Ser)
|
rs759344174
|
0.00003
|
NM_017617.5(NOTCH1):c.6294C>T (p.Arg2098=)
|
rs777111928
|
0.00003
|
NM_017617.5(NOTCH1):c.6313A>G (p.Met2105Val)
|
rs748138179
|
0.00003
|
NM_017617.5(NOTCH1):c.6481C>T (p.Pro2161Ser)
|
rs201518848
|
0.00003
|
NM_017617.5(NOTCH1):c.6665C>T (p.Pro2222Leu)
|
rs779125725
|
0.00003
|
NM_017617.5(NOTCH1):c.6760G>A (p.Glu2254Lys)
|
rs1163673587
|
0.00003
|
NM_017617.5(NOTCH1):c.7115G>A (p.Arg2372Gln)
|
rs373119531
|
0.00003
|
NM_017617.5(NOTCH1):c.7250C>T (p.Pro2417Leu)
|
rs370652630
|
0.00003
|
NM_017617.5(NOTCH1):c.7279G>A (p.Gly2427Ser)
|
rs370722609
|
0.00003
|
NM_017617.5(NOTCH1):c.7357G>A (p.Val2453Met)
|
rs574436740
|
0.00003
|
NM_017617.5(NOTCH1):c.7432G>A (p.Ala2478Thr)
|
rs779039862
|
0.00003
|
NM_017617.5(NOTCH1):c.7632G>C (p.Gln2544His)
|
rs754570072
|
0.00003
|
NM_018062.4(FANCL):c.375-13C>T
|
rs761490451
|
0.00003
|
NM_018486.3(HDAC8):c.206C>A (p.Thr69Asn)
|
rs373083907
|
0.00003
|
NM_018486.3(HDAC8):c.372A>G (p.Gln124=)
|
rs141306915
|
0.00003
|
NM_018486.3(HDAC8):c.984C>T (p.Ser328=)
|
rs782234700
|
0.00003
|
NM_032043.3(BRIP1):c.2830C>G (p.Gln944Glu)
|
rs140233356
|
0.00003
|
NM_133433.4(NIPBL):c.2768G>T (p.Gly923Val)
|
rs200991784
|
0.00003
|
NM_153717.3(EVC):c.771A>G (p.Leu257=)
|
rs756340487
|
0.00003
|
NM_181486.4(TBX5):c.*4G>T
|
rs745708633
|
0.00003
|
NM_181486.4(TBX5):c.1123C>T (p.Arg375Trp)
|
rs377532269
|
0.00003
|
NM_181486.4(TBX5):c.16G>A (p.Glu6Lys)
|
rs145365553
|
0.00003
|
NM_181486.4(TBX5):c.363-6A>G
|
rs757819289
|
0.00003
|
NM_000135.4(FANCA):c.837C>T (p.Asp279=)
|
rs752311383
|
0.00002
|
NM_001018113.3(FANCB):c.1331A>T (p.Glu444Val)
|
rs368679125
|
0.00002
|
NM_001018113.3(FANCB):c.2553T>C (p.Phe851=)
|
rs759020755
|
0.00002
|
NM_001018113.3(FANCB):c.552G>A (p.Leu184=)
|
rs771998496
|
0.00002
|
NM_001374353.1(GLI2):c.2243-4G>A
|
rs568001894
|
0.00002
|
NM_001429.4(EP300):c.2334A>G (p.Thr778=)
|
rs374281264
|
0.00002
|
NM_001999.4(FBN2):c.1897A>G (p.Ile633Val)
|
rs748419325
|
0.00002
|
NM_001999.4(FBN2):c.1973-20T>C
|
rs774598343
|
0.00002
|
NM_001999.4(FBN2):c.2901A>G (p.Pro967=)
|
rs185991527
|
0.00002
|
NM_001999.4(FBN2):c.3442A>G (p.Ser1148Gly)
|
rs764809572
|
0.00002
|
NM_001999.4(FBN2):c.3464A>G (p.Asn1155Ser)
|
rs150224718
|
0.00002
|
NM_001999.4(FBN2):c.6329A>G (p.Asn2110Ser)
|
rs1016100479
|
0.00002
|
NM_001999.4(FBN2):c.6490A>G (p.Ser2164Gly)
|
rs763160605
|
0.00002
|
NM_001999.4(FBN2):c.6910G>A (p.Asp2304Asn)
|
rs368802769
|
0.00002
|
NM_001999.4(FBN2):c.6989G>A (p.Arg2330Lys)
|
rs886038992
|
0.00002
|
NM_001999.4(FBN2):c.6994G>A (p.Asp2332Asn)
|
rs886059894
|
0.00002
|
NM_001999.4(FBN2):c.8498G>A (p.Arg2833His)
|
rs753753954
|
0.00002
|
NM_002470.4(MYH3):c.1888+10G>A
|
rs759205757
|
0.00002
|
NM_002470.4(MYH3):c.19A>G (p.Met7Val)
|
rs191571748
|
0.00002
|
NM_002470.4(MYH3):c.571C>T (p.Arg191Trp)
|
rs368171012
|
0.00002
|
NM_003334.4(UBA1):c.1103G>A (p.Arg368Gln)
|
rs1261345480
|
0.00002
|
NM_003334.4(UBA1):c.1173T>C (p.Ala391=)
|
rs781783732
|
0.00002
|
NM_003334.4(UBA1):c.1328A>G (p.Lys443Arg)
|
rs888369922
|
0.00002
|
NM_003334.4(UBA1):c.1485G>A (p.Gly495=)
|
rs782721809
|
0.00002
|
NM_003334.4(UBA1):c.1818T>C (p.Asn606=)
|
rs782565505
|
0.00002
|
NM_003334.4(UBA1):c.210C>T (p.Leu70=)
|
rs191969626
|
0.00002
|
NM_003334.4(UBA1):c.2460T>C (p.Ser820=)
|
rs782208544
|
0.00002
|
NM_003334.4(UBA1):c.2724G>A (p.Glu908=)
|
rs376593996
|
0.00002
|
NM_003334.4(UBA1):c.2928C>T (p.Leu976=)
|
rs782070102
|
0.00002
|
NM_003334.4(UBA1):c.3068C>T (p.Ser1023Leu)
|
rs1185350232
|
0.00002
|
NM_003334.4(UBA1):c.486G>A (p.Val162=)
|
rs370643219
|
0.00002
|
NM_004380.3(CREBBP):c.2679G>A (p.Ser893=)
|
rs587783474
|
0.00002
|
NM_004380.3(CREBBP):c.4073T>C (p.Phe1358Ser)
|
rs762638591
|
0.00002
|
NM_004380.3(CREBBP):c.5204C>T (p.Thr1735Met)
|
rs1064793090
|
0.00002
|
NM_004380.3(CREBBP):c.6728C>T (p.Ala2243Val)
|
rs190153828
|
0.00002
|
NM_005592.4(MUSK):c.2599G>T (p.Val867Leu)
|
rs370094071
|
0.00002
|
NM_006265.3(RAD21):c.145-4A>G
|
rs752213732
|
0.00002
|
NM_006306.4(SMC1A):c.174A>G (p.Val58=)
|
rs200428075
|
0.00002
|
NM_006306.4(SMC1A):c.3692A>G (p.Asn1231Ser)
|
rs782012594
|
0.00002
|
NM_017617.5(NOTCH1):c.102C>T (p.Gly34=)
|
rs777575093
|
0.00002
|
NM_017617.5(NOTCH1):c.1041C>T (p.Gly347=)
|
rs553606088
|
0.00002
|
NM_017617.5(NOTCH1):c.1136A>G (p.Asn379Ser)
|
rs752255207
|
0.00002
|
NM_017617.5(NOTCH1):c.1250C>T (p.Ser417Leu)
|
rs757631575
|
0.00002
|
NM_017617.5(NOTCH1):c.1269C>T (p.Cys423=)
|
rs775219296
|
0.00002
|
NM_017617.5(NOTCH1):c.1800C>T (p.Cys600=)
|
rs755070916
|
0.00002
|
NM_017617.5(NOTCH1):c.1953C>T (p.Asp651=)
|
rs752168856
|
0.00002
|
NM_017617.5(NOTCH1):c.2086G>A (p.Gly696Ser)
|
rs373556820
|
0.00002
|
NM_017617.5(NOTCH1):c.2207+7G>A
|
rs138935812
|
0.00002
|
NM_017617.5(NOTCH1):c.226G>A (p.Val76Met)
|
rs532574807
|
0.00002
|
NM_017617.5(NOTCH1):c.2441A>G (p.Lys814Arg)
|
rs747529236
|
0.00002
|
NM_017617.5(NOTCH1):c.2482G>A (p.Val828Met)
|
rs772945824
|
0.00002
|
NM_017617.5(NOTCH1):c.2917G>A (p.Ala973Thr)
|
rs200699541
|
0.00002
|
NM_017617.5(NOTCH1):c.3171+8C>T
|
rs985717588
|
0.00002
|
NM_017617.5(NOTCH1):c.3286G>A (p.Val1096Met)
|
rs369730402
|
0.00002
|
NM_017617.5(NOTCH1):c.334C>T (p.Arg112Cys)
|
rs1399392600
|
0.00002
|
NM_017617.5(NOTCH1):c.3701G>A (p.Arg1234Gln)
|
rs773926521
|
0.00002
|
NM_017617.5(NOTCH1):c.3741G>C (p.Gln1247His)
|
rs781658171
|
0.00002
|
NM_017617.5(NOTCH1):c.3748G>A (p.Gly1250Ser)
|
rs771192471
|
0.00002
|
NM_017617.5(NOTCH1):c.3770C>T (p.Pro1257Leu)
|
rs200245794
|
0.00002
|
NM_017617.5(NOTCH1):c.4252G>A (p.Ala1418Thr)
|
rs1290588213
|
0.00002
|
NM_017617.5(NOTCH1):c.4326G>A (p.Pro1442=)
|
rs376469653
|
0.00002
|
NM_017617.5(NOTCH1):c.4348G>A (p.Glu1450Lys)
|
rs147841035
|
0.00002
|
NM_017617.5(NOTCH1):c.4543C>T (p.Leu1515Phe)
|
rs765839822
|
0.00002
|
NM_017617.5(NOTCH1):c.4746G>A (p.Pro1582=)
|
rs886038974
|
0.00002
|
NM_017617.5(NOTCH1):c.5069C>T (p.Ser1690Leu)
|
rs552065719
|
0.00002
|
NM_017617.5(NOTCH1):c.5208C>T (p.Phe1736=)
|
rs781386640
|
0.00002
|
NM_017617.5(NOTCH1):c.5398G>A (p.Ala1800Thr)
|
rs569203312
|
0.00002
|
NM_017617.5(NOTCH1):c.5562C>T (p.Arg1854=)
|
rs777125560
|
0.00002
|
NM_017617.5(NOTCH1):c.5720C>T (p.Pro1907Leu)
|
rs970443298
|
0.00002
|
NM_017617.5(NOTCH1):c.5837G>A (p.Arg1946His)
|
rs777423973
|
0.00002
|
NM_017617.5(NOTCH1):c.5935-11C>T
|
rs768074148
|
0.00002
|
NM_017617.5(NOTCH1):c.6054C>T (p.His2018=)
|
rs202198360
|
0.00002
|
NM_017617.5(NOTCH1):c.6083-10T>G
|
rs1380449680
|
0.00002
|
NM_017617.5(NOTCH1):c.6228C>T (p.Thr2076=)
|
rs531156367
|
0.00002
|
NM_017617.5(NOTCH1):c.6229G>A (p.Ala2077Thr)
|
rs759749364
|
0.00002
|
NM_017617.5(NOTCH1):c.6365C>T (p.Pro2122Leu)
|
rs767587816
|
0.00002
|
NM_017617.5(NOTCH1):c.645C>T (p.Cys215=)
|
rs974424401
|
0.00002
|
NM_017617.5(NOTCH1):c.6814C>T (p.Arg2272Cys)
|
rs752505638
|
0.00002
|
NM_017617.5(NOTCH1):c.6979C>T (p.Arg2327Trp)
|
rs751007903
|
0.00002
|
NM_017617.5(NOTCH1):c.7260C>T (p.Gly2420=)
|
rs1032110986
|
0.00002
|
NM_017617.5(NOTCH1):c.7372C>A (p.Pro2458Thr)
|
rs752802795
|
0.00002
|
NM_017617.5(NOTCH1):c.775G>A (p.Asp259Asn)
|
rs763187824
|
0.00002
|
NM_018486.3(HDAC8):c.1047G>A (p.Thr349=)
|
rs782747900
|
0.00002
|
NM_018486.3(HDAC8):c.1082G>A (p.Arg361Gln)
|
rs781862582
|
0.00002
|
NM_018486.3(HDAC8):c.111+20A>C
|
rs782224300
|
0.00002
|
NM_018486.3(HDAC8):c.1111+16C>T
|
rs1039038766
|
0.00002
|
NM_018486.3(HDAC8):c.22G>A (p.Ala8Thr)
|
rs200093133
|
0.00002
|
NM_018486.3(HDAC8):c.516T>A (p.Ile172=)
|
rs61752447
|
0.00002
|
NM_023110.3(FGFR1):c.448+20C>T
|
rs767029419
|
0.00002
|
NM_032043.3(BRIP1):c.1433A>G (p.His478Arg)
|
rs45501097
|
0.00002
|
NM_032043.3(BRIP1):c.924A>G (p.Lys308=)
|
rs374974885
|
0.00002
|
NM_153717.3(EVC):c.1313G>A (p.Arg438Gln)
|
rs373718642
|
0.00002
|
NM_181486.4(TBX5):c.*1331T>G
|
rs535072534
|
0.00002
|
NM_000059.4(BRCA2):c.6131G>T (p.Gly2044Val)
|
rs56191579
|
0.00001
|
NM_000059.4(BRCA2):c.964A>C (p.Lys322Gln)
|
rs11571640
|
0.00001
|
NM_000135.4(FANCA):c.1007-17T>C
|
rs760059831
|
0.00001
|
NM_000135.4(FANCA):c.1737C>T (p.Tyr579=)
|
rs529199293
|
0.00001
|
NM_000135.4(FANCA):c.2152-10G>C
|
rs557705265
|
0.00001
|
NM_000135.4(FANCA):c.3513+13T>C
|
rs560352340
|
0.00001
|
NM_000135.4(FANCA):c.3538G>A (p.Val1180Met)
|
rs372706571
|
0.00001
|
NM_000135.4(FANCA):c.59G>A (p.Arg20Lys)
|
rs376307136
|
0.00001
|
NM_000557.5(GDF5):c.631+6G>A
|
rs768697784
|
0.00001
|
NM_001018113.3(FANCB):c.111T>C (p.Pro37=)
|
rs1172968993
|
0.00001
|
NM_001018113.3(FANCB):c.1149A>G (p.Lys383=)
|
rs751649474
|
0.00001
|
NM_001018113.3(FANCB):c.1310C>T (p.Thr437Met)
|
rs772802668
|
0.00001
|
NM_001018113.3(FANCB):c.2311A>G (p.Ser771Gly)
|
rs750381270
|
0.00001
|
NM_001018113.3(FANCB):c.2391C>T (p.Val797=)
|
rs778731279
|
0.00001
|
NM_001018113.3(FANCB):c.897C>T (p.Phe299=)
|
rs753443421
|
0.00001
|
NM_001018115.3(FANCD2):c.2469A>G (p.Gln823=)
|
rs574054963
|
0.00001
|
NM_001271938.2(MEGF8):c.3603C>T (p.Asn1201=)
|
rs540512909
|
0.00001
|
NM_001271938.2(MEGF8):c.4359C>T (p.Cys1453=)
|
rs369967292
|
0.00001
|
NM_001278689.2(EOGT):c.1305C>T (p.Phe435=)
|
rs527394057
|
0.00001
|
NM_001374353.1(GLI2):c.2657C>G (p.Thr886Ser)
|
rs572826436
|
0.00001
|
NM_001374353.1(GLI2):c.3409G>A (p.Val1137Ile)
|
rs200999705
|
0.00001
|
NM_001374353.1(GLI2):c.4156A>G (p.Met1386Val)
|
rs577126364
|
0.00001
|
NM_001429.4(EP300):c.1150T>G (p.Ser384Ala)
|
rs377368037
|
0.00001
|
NM_001429.4(EP300):c.2005A>G (p.Met669Val)
|
rs749541256
|
0.00001
|
NM_001429.4(EP300):c.206G>A (p.Gly69Asp)
|
rs370355846
|
0.00001
|
NM_001429.4(EP300):c.271C>T (p.Pro91Ser)
|
rs138538553
|
0.00001
|
NM_001429.4(EP300):c.2997+12G>A
|
rs372770495
|
0.00001
|
NM_001429.4(EP300):c.469C>A (p.Pro157Thr)
|
rs748538778
|
0.00001
|
NM_001429.4(EP300):c.471A>G (p.Pro157=)
|
rs770598337
|
0.00001
|
NM_001429.4(EP300):c.5709C>T (p.Gly1903=)
|
rs200728751
|
0.00001
|
NM_001429.4(EP300):c.6352A>G (p.Met2118Val)
|
rs755381839
|
0.00001
|
NM_001429.4(EP300):c.6967C>T (p.Pro2323Ser)
|
rs201369756
|
0.00001
|
NM_001429.4(EP300):c.7139C>T (p.Pro2380Leu)
|
rs587778259
|
0.00001
|
NM_001999.4(FBN2):c.-147C>T
|
rs571337177
|
0.00001
|
NM_001999.4(FBN2):c.1157T>C (p.Met386Thr)
|
rs750949734
|
0.00001
|
NM_001999.4(FBN2):c.1336G>A (p.Gly446Ser)
|
rs1173562709
|
0.00001
|
NM_001999.4(FBN2):c.1418G>A (p.Gly473Glu)
|
rs376096770
|
0.00001
|
NM_001999.4(FBN2):c.14G>A (p.Arg5Gln)
|
rs1194684025
|
0.00001
|
NM_001999.4(FBN2):c.1812C>T (p.Ala604=)
|
rs745811885
|
0.00001
|
NM_001999.4(FBN2):c.2042G>A (p.Arg681His)
|
rs548605398
|
0.00001
|
NM_001999.4(FBN2):c.2271T>C (p.Ser757=)
|
rs1338036259
|
0.00001
|
NM_001999.4(FBN2):c.2375G>A (p.Arg792His)
|
rs374031658
|
0.00001
|
NM_001999.4(FBN2):c.2429-11G>A
|
rs201849584
|
0.00001
|
NM_001999.4(FBN2):c.2855C>T (p.Thr952Met)
|
rs766590294
|
0.00001
|
NM_001999.4(FBN2):c.3046G>A (p.Val1016Ile)
|
rs773235785
|
0.00001
|
NM_001999.4(FBN2):c.3209T>A (p.Phe1070Tyr)
|
rs139118782
|
0.00001
|
NM_001999.4(FBN2):c.3483A>G (p.Glu1161=)
|
rs761867143
|
0.00001
|
NM_001999.4(FBN2):c.3568G>A (p.Glu1190Lys)
|
rs755737169
|
0.00001
|
NM_001999.4(FBN2):c.4096A>G (p.Thr1366Ala)
|
rs768722316
|
0.00001
|
NM_001999.4(FBN2):c.4124C>T (p.Ala1375Val)
|
rs768753485
|
0.00001
|
NM_001999.4(FBN2):c.4402G>A (p.Val1468Ile)
|
rs199668238
|
0.00001
|
NM_001999.4(FBN2):c.4407G>A (p.Pro1469=)
|
rs546172367
|
0.00001
|
NM_001999.4(FBN2):c.4422C>T (p.Cys1474=)
|
rs371629482
|
0.00001
|
NM_001999.4(FBN2):c.4453G>A (p.Asp1485Asn)
|
rs187786356
|
0.00001
|
NM_001999.4(FBN2):c.477T>C (p.Cys159=)
|
rs138601900
|
0.00001
|
NM_001999.4(FBN2):c.5225G>A (p.Arg1742Gln)
|
rs774411234
|
0.00001
|
NM_001999.4(FBN2):c.5487C>T (p.Gly1829=)
|
rs375136629
|
0.00001
|
NM_001999.4(FBN2):c.61C>T (p.Leu21Phe)
|
rs201321678
|
0.00001
|
NM_001999.4(FBN2):c.6558A>G (p.Gln2186=)
|
rs757216544
|
0.00001
|
NM_001999.4(FBN2):c.6598A>G (p.Met2200Val)
|
rs766808076
|
0.00001
|
NM_001999.4(FBN2):c.6885G>A (p.Leu2295=)
|
rs754211806
|
0.00001
|
NM_001999.4(FBN2):c.6990G>A (p.Arg2330=)
|
rs28763928
|
0.00001
|
NM_001999.4(FBN2):c.7202G>A (p.Ser2401Asn)
|
rs758124873
|
0.00001
|
NM_001999.4(FBN2):c.7262A>G (p.Gln2421Arg)
|
rs764759689
|
0.00001
|
NM_001999.4(FBN2):c.7266C>T (p.Cys2422=)
|
rs776227906
|
0.00001
|
NM_001999.4(FBN2):c.734G>A (p.Arg245Gln)
|
rs747507457
|
0.00001
|
NM_001999.4(FBN2):c.7385A>G (p.Asn2462Ser)
|
rs576501460
|
0.00001
|
NM_001999.4(FBN2):c.7396A>G (p.Ile2466Val)
|
rs373370945
|
0.00001
|
NM_001999.4(FBN2):c.73G>A (p.Gly25Ser)
|
rs763408652
|
0.00001
|
NM_001999.4(FBN2):c.7985A>G (p.Asn2662Ser)
|
rs765867245
|
0.00001
|
NM_001999.4(FBN2):c.8099C>T (p.Ser2700Leu)
|
rs776788539
|
0.00001
|
NM_001999.4(FBN2):c.8254G>A (p.Asp2752Asn)
|
rs529742815
|
0.00001
|
NM_001999.4(FBN2):c.82G>T (p.Gly28Cys)
|
rs772841538
|
0.00001
|
NM_001999.4(FBN2):c.8325C>T (p.Ser2775=)
|
rs368712261
|
0.00001
|
NM_001999.4(FBN2):c.8437G>A (p.Gly2813Ser)
|
rs199808954
|
0.00001
|
NM_001999.4(FBN2):c.8668A>G (p.Asn2890Asp)
|
rs888064842
|
0.00001
|
NM_001999.4(FBN2):c.8675A>G (p.Asp2892Gly)
|
rs768293070
|
0.00001
|
NM_001999.4(FBN2):c.86A>C (p.Gln29Pro)
|
rs771712321
|
0.00001
|
NM_002010.3(FGF9):c.*266G>A
|
rs557670544
|
0.00001
|
NM_002334.4(LRP4):c.1365A>G (p.Pro455=)
|
rs143481229
|
0.00001
|
NM_002465.4(MYBPC1):c.1423A>G (p.Ile475Val)
|
rs200949332
|
0.00001
|
NM_002465.4(MYBPC1):c.2508C>T (p.Leu836=)
|
rs772332498
|
0.00001
|
NM_002470.4(MYH3):c.3850G>A (p.Glu1284Lys)
|
rs761684970
|
0.00001
|
NM_002693.3(POLG):c.*30G>A
|
rs3087376
|
0.00001
|
NM_002968.3(SALL1):c.537C>T (p.Leu179=)
|
rs200539812
|
0.00001
|
NM_003289.4(TPM2):c.563+18T>A
|
rs370352040
|
0.00001
|
NM_003334.4(UBA1):c.117+16G>A
|
rs375750779
|
0.00001
|
NM_003334.4(UBA1):c.1339-9A>G
|
rs782104383
|
0.00001
|
NM_003334.4(UBA1):c.1339C>T (p.Arg447Cys)
|
rs570568650
|
0.00001
|
NM_003334.4(UBA1):c.2053T>C (p.Leu685=)
|
rs781839671
|
0.00001
|
NM_003334.4(UBA1):c.206G>A (p.Arg69Gln)
|
rs782425809
|
0.00001
|
NM_003334.4(UBA1):c.2118C>T (p.Cys706=)
|
rs782597501
|
0.00001
|
NM_003334.4(UBA1):c.2453A>G (p.Asn818Ser)
|
rs781800261
|
0.00001
|
NM_003334.4(UBA1):c.2742G>C (p.Gln914His)
|
rs1487402125
|
0.00001
|
NM_003334.4(UBA1):c.2941-14C>T
|
rs782755186
|
0.00001
|
NM_003722.5(TP63):c.1404A>G (p.Lys468=)
|
rs753627633
|
0.00001
|
NM_003722.5(TP63):c.210G>C (p.Gln70His)
|
rs201631366
|
0.00001
|
NM_003722.5(TP63):c.303G>A (p.Ser101=)
|
rs186864205
|
0.00001
|
NM_003722.5(TP63):c.992+4A>C
|
rs534974406
|
0.00001
|
NM_004380.3(CREBBP):c.275G>A (p.Ser92Asn)
|
rs746902106
|
0.00001
|
NM_004380.3(CREBBP):c.3929A>G (p.Asn1310Ser)
|
rs558051943
|
0.00001
|
NM_004380.3(CREBBP):c.4740C>T (p.Gly1580=)
|
rs563033919
|
0.00001
|
NM_004380.3(CREBBP):c.4992C>T (p.Arg1664=)
|
rs756979739
|
0.00001
|
NM_004380.3(CREBBP):c.504G>A (p.Thr168=)
|
rs373310969
|
0.00001
|
NM_004380.3(CREBBP):c.5843C>T (p.Pro1948Leu)
|
rs557611780
|
0.00001
|
NM_004380.3(CREBBP):c.6684C>T (p.His2228=)
|
rs138613594
|
0.00001
|
NM_005431.2(XRCC2):c.300A>G (p.Leu100=)
|
rs146700851
|
0.00001
|
NM_005445.4(SMC3):c.1671-4T>C
|
rs201392611
|
0.00001
|
NM_005445.4(SMC3):c.3339A>G (p.Gln1113=)
|
rs189703529
|
0.00001
|
NM_005592.4(MUSK):c.2085A>C (p.Pro695=)
|
rs772759899
|
0.00001
|
NM_006306.4(SMC1A):c.*931A>G
|
rs782237045
|
0.00001
|
NM_006306.4(SMC1A):c.3285+4G>A
|
rs1459975526
|
0.00001
|
NM_006306.4(SMC1A):c.3619-14C>T
|
rs782732704
|
0.00001
|
NM_006306.4(SMC1A):c.3683C>T (p.Pro1228Leu)
|
rs782063495
|
0.00001
|
NM_006306.4(SMC1A):c.411+6C>T
|
rs782515915
|
0.00001
|
NM_006306.4(SMC1A):c.816A>G (p.Lys272=)
|
rs782455775
|
0.00001
|
NM_012243.3(SLC35A3):c.6C>T (p.Phe2=)
|
rs745545998
|
0.00001
|
NM_013352.4(DSE):c.2334G>T (p.Leu778=)
|
rs534248134
|
0.00001
|
NM_016277.5(RAB23):c.218C>T (p.Ala73Val)
|
rs556931606
|
0.00001
|
NM_016277.5(RAB23):c.93A>G (p.Lys31=)
|
rs201735614
|
0.00001
|
NM_017617.5(NOTCH1):c.1000G>A (p.Glu334Lys)
|
rs779061035
|
0.00001
|
NM_017617.5(NOTCH1):c.1077C>T (p.Cys359=)
|
rs202235419
|
0.00001
|
NM_017617.5(NOTCH1):c.1205C>T (p.Ser402Leu)
|
rs1037236860
|
0.00001
|
NM_017617.5(NOTCH1):c.1214C>T (p.Thr405Met)
|
rs370746889
|
0.00001
|
NM_017617.5(NOTCH1):c.1237G>A (p.Val413Met)
|
rs373770404
|
0.00001
|
NM_017617.5(NOTCH1):c.123T>C (p.Asn41=)
|
rs1207676067
|
0.00001
|
NM_017617.5(NOTCH1):c.1266C>G (p.Pro422=)
|
rs762533002
|
0.00001
|
NM_017617.5(NOTCH1):c.1309G>A (p.Glu437Lys)
|
rs1060502238
|
0.00001
|
NM_017617.5(NOTCH1):c.1384C>G (p.Gln462Glu)
|
rs747502723
|
0.00001
|
NM_017617.5(NOTCH1):c.1461C>T (p.Cys487=)
|
rs754876256
|
0.00001
|
NM_017617.5(NOTCH1):c.157G>A (p.Val53Met)
|
rs757497167
|
0.00001
|
NM_017617.5(NOTCH1):c.1750G>A (p.Val584Ile)
|
rs763886355
|
0.00001
|
NM_017617.5(NOTCH1):c.1775G>A (p.Arg592His)
|
rs544117297
|
0.00001
|
NM_017617.5(NOTCH1):c.1815C>T (p.Asn605=)
|
rs781029850
|
0.00001
|
NM_017617.5(NOTCH1):c.1929T>C (p.Asp643=)
|
rs527323201
|
0.00001
|
NM_017617.5(NOTCH1):c.1951G>A (p.Asp651Asn)
|
rs1182867386
|
0.00001
|
NM_017617.5(NOTCH1):c.1972A>G (p.Lys658Glu)
|
rs1260932753
|
0.00001
|
NM_017617.5(NOTCH1):c.1977C>A (p.Ile659=)
|
rs766577980
|
0.00001
|
NM_017617.5(NOTCH1):c.197C>T (p.Thr66Ile)
|
rs752133245
|
0.00001
|
NM_017617.5(NOTCH1):c.2038G>A (p.Asp680Asn)
|
rs749761941
|
0.00001
|
NM_017617.5(NOTCH1):c.2067C>T (p.Asn689=)
|
rs751619078
|
0.00001
|
NM_017617.5(NOTCH1):c.2079C>T (p.Cys693=)
|
rs753710836
|
0.00001
|
NM_017617.5(NOTCH1):c.2116G>A (p.Glu706Lys)
|
rs368494947
|
0.00001
|
NM_017617.5(NOTCH1):c.2127C>T (p.His709=)
|
rs755898711
|
0.00001
|
NM_017617.5(NOTCH1):c.2134A>G (p.Thr712Ala)
|
rs200692749
|
0.00001
|
NM_017617.5(NOTCH1):c.2175C>T (p.Cys725=)
|
rs770313470
|
0.00001
|
NM_017617.5(NOTCH1):c.230T>G (p.Val77Gly)
|
rs760700593
|
0.00001
|
NM_017617.5(NOTCH1):c.2311A>G (p.Met771Val)
|
rs371117125
|
0.00001
|
NM_017617.5(NOTCH1):c.2425G>A (p.Asp809Asn)
|
rs762729988
|
0.00001
|
NM_017617.5(NOTCH1):c.244G>A (p.Val82Met)
|
rs571831870
|
0.00001
|
NM_017617.5(NOTCH1):c.2474C>T (p.Thr825Met)
|
rs754775789
|
0.00001
|
NM_017617.5(NOTCH1):c.2577G>A (p.Thr859=)
|
rs747189377
|
0.00001
|
NM_017617.5(NOTCH1):c.2630C>T (p.Pro877Leu)
|
rs371050668
|
0.00001
|
NM_017617.5(NOTCH1):c.2641G>A (p.Gly881Ser)
|
rs756555345
|
0.00001
|
NM_017617.5(NOTCH1):c.2644G>A (p.Ala882Thr)
|
rs767886377
|
0.00001
|
NM_017617.5(NOTCH1):c.2719G>A (p.Asp907Asn)
|
rs757628476
|
0.00001
|
NM_017617.5(NOTCH1):c.2735G>A (p.Arg912Gln)
|
rs773185855
|
0.00001
|
NM_017617.5(NOTCH1):c.2753A>G (p.Asn918Ser)
|
rs367586502
|
0.00001
|
NM_017617.5(NOTCH1):c.2876A>C (p.Asn959Thr)
|
rs1358942894
|
0.00001
|
NM_017617.5(NOTCH1):c.2882C>T (p.Thr961Met)
|
rs377343669
|
0.00001
|
NM_017617.5(NOTCH1):c.2916C>T (p.Pro972=)
|
rs754724517
|
0.00001
|
NM_017617.5(NOTCH1):c.2951C>T (p.Thr984Met)
|
rs769132985
|
0.00001
|
NM_017617.5(NOTCH1):c.314C>G (p.Ala105Gly)
|
rs1212259128
|
0.00001
|
NM_017617.5(NOTCH1):c.3160C>A (p.Pro1054Thr)
|
rs1018501056
|
0.00001
|
NM_017617.5(NOTCH1):c.3363C>G (p.Leu1121=)
|
rs534486656
|
0.00001
|
NM_017617.5(NOTCH1):c.3496G>A (p.Gly1166Ser)
|
rs754815022
|
0.00001
|
NM_017617.5(NOTCH1):c.3631C>T (p.Arg1211Trp)
|
rs766644919
|
0.00001
|
NM_017617.5(NOTCH1):c.3632G>A (p.Arg1211Gln)
|
rs756362905
|
0.00001
|
NM_017617.5(NOTCH1):c.365T>G (p.Leu122Arg)
|
rs984769025
|
0.00001
|
NM_017617.5(NOTCH1):c.3685G>A (p.Val1229Ile)
|
rs766198119
|
0.00001
|
NM_017617.5(NOTCH1):c.3694G>A (p.Val1232Met)
|
rs750169914
|
0.00001
|
NM_017617.5(NOTCH1):c.3706C>T (p.Pro1236Ser)
|
rs749988739
|
0.00001
|
NM_017617.5(NOTCH1):c.3710A>G (p.Lys1237Arg)
|
rs576434469
|
0.00001
|
NM_017617.5(NOTCH1):c.3829G>A (p.Asp1277Asn)
|
rs550872754
|
0.00001
|
NM_017617.5(NOTCH1):c.389C>T (p.Pro130Leu)
|
rs750539322
|
0.00001
|
NM_017617.5(NOTCH1):c.3954T>A (p.Asn1318Lys)
|
rs754634957
|
0.00001
|
NM_017617.5(NOTCH1):c.3988C>T (p.Arg1330Cys)
|
rs1249540119
|
0.00001
|
NM_017617.5(NOTCH1):c.3990C>T (p.Arg1330=)
|
rs775448292
|
0.00001
|
NM_017617.5(NOTCH1):c.4057G>A (p.Gly1353Ser)
|
rs761908188
|
0.00001
|
NM_017617.5(NOTCH1):c.4103G>A (p.Arg1368His)
|
rs779086531
|
0.00001
|
NM_017617.5(NOTCH1):c.4309G>A (p.Gly1437Arg)
|
rs780500109
|
0.00001
|
NM_017617.5(NOTCH1):c.4417G>A (p.Gly1473Ser)
|
rs763685504
|
0.00001
|
NM_017617.5(NOTCH1):c.4451A>G (p.Asn1484Ser)
|
rs759828439
|
0.00001
|
NM_017617.5(NOTCH1):c.4472C>T (p.Thr1491Met)
|
rs369915496
|
0.00001
|
NM_017617.5(NOTCH1):c.4571C>T (p.Ala1524Val)
|
rs774374213
|
0.00001
|
NM_017617.5(NOTCH1):c.4686G>A (p.Ala1562=)
|
rs1392196185
|
0.00001
|
NM_017617.5(NOTCH1):c.4717A>G (p.Thr1573Ala)
|
rs762492041
|
0.00001
|
NM_017617.5(NOTCH1):c.4900G>A (p.Ala1634Thr)
|
rs757260114
|
0.00001
|
NM_017617.5(NOTCH1):c.4906G>A (p.Glu1636Lys)
|
rs764006572
|
0.00001
|
NM_017617.5(NOTCH1):c.4984C>T (p.Arg1662Trp)
|
rs1456612268
|
0.00001
|
NM_017617.5(NOTCH1):c.4C>G (p.Pro2Ala)
|
rs975429231
|
0.00001
|
NM_017617.5(NOTCH1):c.505A>G (p.Ser169Gly)
|
rs1394975333
|
0.00001
|
NM_017617.5(NOTCH1):c.5168-5C>T
|
rs757370134
|
0.00001
|
NM_017617.5(NOTCH1):c.5214C>T (p.Tyr1738=)
|
rs757538884
|
0.00001
|
NM_017617.5(NOTCH1):c.5222C>T (p.Ala1741Val)
|
rs752754662
|
0.00001
|
NM_017617.5(NOTCH1):c.5344A>C (p.Lys1782Gln)
|
rs1188095516
|
0.00001
|
NM_017617.5(NOTCH1):c.5568T>C (p.Ser1856=)
|
rs535478432
|
0.00001
|
NM_017617.5(NOTCH1):c.5572A>C (p.Met1858Leu)
|
rs779337715
|
0.00001
|
NM_017617.5(NOTCH1):c.5690C>T (p.Thr1897Met)
|
rs746237272
|
0.00001
|
NM_017617.5(NOTCH1):c.5721G>A (p.Pro1907=)
|
rs1020718980
|
0.00001
|
NM_017617.5(NOTCH1):c.5725G>A (p.Val1909Ile)
|
rs751228412
|
0.00001
|
NM_017617.5(NOTCH1):c.5734G>A (p.Asp1912Asn)
|
rs375978224
|
0.00001
|
NM_017617.5(NOTCH1):c.5784C>T (p.Gly1928=)
|
rs773571672
|
0.00001
|
NM_017617.5(NOTCH1):c.5805C>T (p.Ala1935=)
|
rs774693459
|
0.00001
|
NM_017617.5(NOTCH1):c.581C>T (p.Thr194Ile)
|
rs760005580
|
0.00001
|
NM_017617.5(NOTCH1):c.5870A>C (p.Gln1957Pro)
|
rs201174576
|
0.00001
|
NM_017617.5(NOTCH1):c.587A>G (p.His196Arg)
|
rs1157720260
|
0.00001
|
NM_017617.5(NOTCH1):c.5972G>A (p.Arg1991His)
|
rs1371022203
|
0.00001
|
NM_017617.5(NOTCH1):c.6061G>A (p.Val2021Ile)
|
rs759643831
|
0.00001
|
NM_017617.5(NOTCH1):c.6106G>A (p.Ala2036Thr)
|
rs542300217
|
0.00001
|
NM_017617.5(NOTCH1):c.613G>A (p.Val205Ile)
|
rs979299004
|
0.00001
|
NM_017617.5(NOTCH1):c.622G>A (p.Ala208Thr)
|
rs745817995
|
0.00001
|
NM_017617.5(NOTCH1):c.6257A>G (p.Asn2086Ser)
|
rs201058656
|
0.00001
|
NM_017617.5(NOTCH1):c.6260G>A (p.Arg2087Gln)
|
rs768543030
|
0.00001
|
NM_017617.5(NOTCH1):c.6265A>G (p.Ile2089Val)
|
rs749262096
|
0.00001
|
NM_017617.5(NOTCH1):c.6295G>A (p.Asp2099Asn)
|
rs766745955
|
0.00001
|
NM_017617.5(NOTCH1):c.632C>G (p.Thr211Ser)
|
rs1401319182
|
0.00001
|
NM_017617.5(NOTCH1):c.6358C>T (p.Arg2120Cys)
|
rs375969725
|
0.00001
|
NM_017617.5(NOTCH1):c.6395C>T (p.Thr2132Met)
|
rs777501680
|
0.00001
|
NM_017617.5(NOTCH1):c.6453C>T (p.Pro2151=)
|
rs377302245
|
0.00001
|
NM_017617.5(NOTCH1):c.6456C>T (p.Gly2152=)
|
rs368287903
|
0.00001
|
NM_017617.5(NOTCH1):c.6476G>A (p.Arg2159His)
|
rs1060502233
|
0.00001
|
NM_017617.5(NOTCH1):c.649C>T (p.Arg217Trp)
|
rs757003332
|
0.00001
|
NM_017617.5(NOTCH1):c.6503G>A (p.Cys2168Tyr)
|
rs1055326153
|
0.00001
|
NM_017617.5(NOTCH1):c.6582C>T (p.Ser2194=)
|
rs200853719
|
0.00001
|
NM_017617.5(NOTCH1):c.6593C>T (p.Ser2198Leu)
|
rs761562076
|
0.00001
|
NM_017617.5(NOTCH1):c.6637G>A (p.Val2213Met)
|
rs376241938
|
0.00001
|
NM_017617.5(NOTCH1):c.6680C>T (p.Pro2227Leu)
|
rs751456570
|
0.00001
|
NM_017617.5(NOTCH1):c.6745G>A (p.Val2249Met)
|
rs369457922
|
0.00001
|
NM_017617.5(NOTCH1):c.674C>G (p.Ser225Trp)
|
rs553542677
|
0.00001
|
NM_017617.5(NOTCH1):c.6784G>A (p.Gly2262Ser)
|
rs780071276
|
0.00001
|
NM_017617.5(NOTCH1):c.6789G>C (p.Arg2263=)
|
rs1367699274
|
0.00001
|
NM_017617.5(NOTCH1):c.6871G>A (p.Gly2291Arg)
|
rs367721906
|
0.00001
|
NM_017617.5(NOTCH1):c.6897C>T (p.Gly2299=)
|
rs201643432
|
0.00001
|
NM_017617.5(NOTCH1):c.6910T>G (p.Leu2304Val)
|
rs749993527
|
0.00001
|
NM_017617.5(NOTCH1):c.6921A>G (p.Gln2307=)
|
rs1361904973
|
0.00001
|
NM_017617.5(NOTCH1):c.6937C>T (p.Arg2313Trp)
|
rs374453977
|
0.00001
|
NM_017617.5(NOTCH1):c.6949G>A (p.Gly2317Ser)
|
rs747022065
|
0.00001
|
NM_017617.5(NOTCH1):c.6968A>G (p.Tyr2323Cys)
|
rs779811889
|
0.00001
|
NM_017617.5(NOTCH1):c.7046C>T (p.Pro2349Leu)
|
rs540165156
|
0.00001
|
NM_017617.5(NOTCH1):c.7047G>A (p.Pro2349=)
|
rs775336930
|
0.00001
|
NM_017617.5(NOTCH1):c.707C>T (p.Thr236Met)
|
rs537766290
|
0.00001
|
NM_017617.5(NOTCH1):c.7138G>A (p.Val2380Met)
|
rs769693988
|
0.00001
|
NM_017617.5(NOTCH1):c.7157A>G (p.Gln2386Arg)
|
rs746658493
|
0.00001
|
NM_017617.5(NOTCH1):c.7189C>T (p.Leu2397=)
|
rs374789141
|
0.00001
|
NM_017617.5(NOTCH1):c.7291C>T (p.Arg2431Trp)
|
rs758410389
|
0.00001
|
NM_017617.5(NOTCH1):c.743-14C>T
|
rs536768165
|
0.00001
|
NM_017617.5(NOTCH1):c.743-18C>T
|
rs769949581
|
0.00001
|
NM_017617.5(NOTCH1):c.7631A>G (p.Gln2544Arg)
|
rs764749582
|
0.00001
|
NM_017617.5(NOTCH1):c.7642G>A (p.Ala2548Thr)
|
rs761156723
|
0.00001
|
NM_017617.5(NOTCH1):c.764A>G (p.Glu255Gly)
|
rs1186718194
|
0.00001
|
NM_017617.5(NOTCH1):c.79C>A (p.Pro27Thr)
|
rs769784635
|
0.00001
|
NM_018486.3(HDAC8):c.1111+10G>T
|
rs373892213
|
0.00001
|
NM_018486.3(HDAC8):c.357G>A (p.Thr119=)
|
rs782021788
|
0.00001
|
NM_018486.3(HDAC8):c.438-17A>G
|
rs782753936
|
0.00001
|
NM_018486.3(HDAC8):c.910+17G>T
|
rs782676451
|
0.00001
|
NM_020436.5(SALL4):c.609C>A (p.Ala203=)
|
rs200416079
|
0.00001
|
NM_020937.4(FANCM):c.1183+8A>G
|
rs538172189
|
0.00001
|
NM_022458.4(LMBR1):c.1159-3C>T
|
rs369446617
|
0.00001
|
NM_022458.4(LMBR1):c.165C>T (p.Ile55=)
|
rs752415935
|
0.00001
|
NM_022458.4(LMBR1):c.435C>T (p.Ala145=)
|
rs563054181
|
0.00001
|
NM_023110.3(FGFR1):c.1308C>T (p.Ser436=)
|
rs546318124
|
0.00001
|
NM_023110.3(FGFR1):c.359-7C>T
|
rs749216266
|
0.00001
|
NM_023110.3(FGFR1):c.66G>C (p.Arg22Ser)
|
rs17175750
|
0.00001
|
NM_032444.4(SLX4):c.3245A>G (p.Gln1082Arg)
|
rs368657696
|
0.00001
|
NM_133433.4(NIPBL):c.1392T>A (p.Pro464=)
|
rs555179389
|
0.00001
|
NM_133433.4(NIPBL):c.3423A>G (p.Ser1141=)
|
rs571024836
|
0.00001
|
NM_133433.4(NIPBL):c.3574+20A>C
|
rs530238141
|
0.00001
|
NM_138959.3(VANGL1):c.*2344A>C
|
rs531884184
|
0.00001
|
NM_138959.3(VANGL1):c.*3150T>C
|
rs148126079
|
0.00001
|
NM_138959.3(VANGL1):c.*3559G>A
|
rs544552151
|
0.00001
|
NM_153717.3(EVC):c.1428G>C (p.Glu476Asp)
|
rs571637567
|
0.00001
|
NM_181486.4(TBX5):c.1313G>A (p.Arg438Gln)
|
rs557758851
|
0.00001
|
NM_181486.4(TBX5):c.1449G>A (p.Gln483=)
|
rs117965596
|
0.00001
|
NM_181486.4(TBX5):c.729G>T (p.Glu243Asp)
|
rs186183947
|
0.00001
|
NM_181486.4(TBX5):c.769G>A (p.Val257Met)
|
rs200382742
|
0.00001
|
NM_182895.5(SCARF2):c.2181C>G (p.Pro727=)
|
rs1171701467
|
0.00001
|
NC_000016.10:g.13919809A>C
|
rs6498486
|
|
NM_000059.4(BRCA2):c.*839del
|
rs75353978
|
|
NM_000059.4(BRCA2):c.6513G>C (p.Val2171=)
|
rs206076
|
|
NM_000059.4(BRCA2):c.7242A>G (p.Ser2414=)
|
rs1799955
|
|
NM_000079.4(CHRNA1):c.1003-8dup
|
|
|
NM_000079.4(CHRNA1):c.190-13dup
|
rs34695580
|
|
NM_000079.4(CHRNA1):c.190-5del
|
rs34695580
|
|
NM_000079.4(CHRNA1):c.43+59G>T
|
rs7560774
|
|
NM_000079.4(CHRNA1):c.779-13_779-12del
|
rs67309103
|
|
NM_000135.4(FANCA):c.1225+10del
|
rs2143529499
|
|
NM_000135.4(FANCA):c.1225+20C>T
|
rs199534742
|
|
NM_000135.4(FANCA):c.1290G>A (p.Ala430=)
|
rs1800332
|
|
NM_000135.4(FANCA):c.2223-114C>T
|
rs886952
|
|
NM_000135.4(FANCA):c.2432G>A (p.Gly811Asp)
|
rs201152989
|
|
NM_000135.4(FANCA):c.2505-4del
|
|
|
NM_000135.4(FANCA):c.2602-13CT[2]
|
rs577636020
|
|
NM_000135.4(FANCA):c.2602-19G>C
|
rs17233225
|
|
NM_000135.4(FANCA):c.3265G>A (p.Val1089Ile)
|
rs536839082
|
|
NM_000135.4(FANCA):c.3349-5dup
|
|
|
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg)
|
rs139160837
|
|
NM_000135.4(FANCA):c.427-19dup
|
|
|
NM_000135.4(FANCA):c.523-4dup
|
|
|
NM_000135.4(FANCA):c.710-142_710-141dup
|
rs17232344
|
|
NM_000135.4(FANCA):c.826+10T>C
|
rs536052530
|
|
NM_000136.3(FANCC):c.*1662C>T
|
rs4647556
|
|
NM_000136.3(FANCC):c.*1727T>A
|
rs4647557
|
|
NM_000136.3(FANCC):c.*42G>A
|
rs7029888
|
|
NM_000136.3(FANCC):c.1329+16del
|
|
|
NM_000136.3(FANCC):c.1485G>A (p.Leu495=)
|
rs56082100
|
|
NM_000136.3(FANCC):c.251-5del
|
|
|
NM_000136.3(FANCC):c.346-18del
|
|
|
NM_000136.3(FANCC):c.346-3del
|
rs766373744
|
|
NM_000141.5(FGFR2):c.-236G>A
|
rs1047111
|
|
NM_000141.5(FGFR2):c.-236G>C
|
rs1047111
|
|
NM_000141.5(FGFR2):c.-626C>A
|
rs549524538
|
|
NM_000141.5(FGFR2):c.696A>G (p.Val232=)
|
rs1047100
|
|
NM_000192.3(TBX5):c.-167G>A
|
rs146645348
|
|
NM_000474.4(TWIST1):c.256_276dup (p.Gly86_Gly92dup)
|
rs544465774
|
|
NM_000474.4(TWIST1):c.259_276del (p.Ala87_Gly92del)
|
rs544465774
|
|
NM_000474.4(TWIST1):c.260_274dup (p.Ala87_Gly91dup)
|
rs760471055
|
|
NM_000522.5(HOXA13):c.496C>A (p.Pro166Thr)
|
rs34398255
|
|
NM_000557.5(GDF5):c.1000C>G (p.Arg334Gly)
|
rs140895068
|
|
NM_000751.3(CHRND):c.*547G>C
|
rs2343841
|
|
NM_000751.3(CHRND):c.199-90_199-89insAAGA
|
rs113930536
|
|
NM_000751.3(CHRND):c.267G>C (p.Lys89Asn)
|
rs545298641
|
|
NM_000900.5(MGP):c.*755G>T
|
rs142773584
|
|
NM_000900.5(MGP):c.62-18dup
|
rs11393307
|
|
NM_001003722.2(GLE1):c.*907G>C
|
rs55823126
|
|
NM_001003722.2(GLE1):c.1242+30G>T
|
rs869455
|
|
NM_001018113.3(FANCB):c.1105-26TATT[4]
|
rs398123537
|
|
NM_001018113.3(FANCB):c.1105-26TATT[7]
|
rs398123537
|
|
NM_001018113.3(FANCB):c.1197+19_1197+21del
|
rs755825913
|
|
NM_001018113.3(FANCB):c.1234C>T (p.Leu412=)
|
|
|
NM_001018113.3(FANCB):c.1326+13A>G
|
|
|
NM_001018113.3(FANCB):c.1327-12dup
|
rs202067682
|
|
NM_001018113.3(FANCB):c.1327-3del
|
rs202067682
|
|
NM_001018113.3(FANCB):c.1373A>G (p.His458Arg)
|
|
|
NM_001018113.3(FANCB):c.153C>T (p.Asp51=)
|
|
|
NM_001018113.3(FANCB):c.1581G>T (p.Val527=)
|
|
|
NM_001018113.3(FANCB):c.1614A>G (p.Pro538=)
|
|
|
NM_001018113.3(FANCB):c.1928-5del
|
|
|
NM_001018113.3(FANCB):c.1928-5dup
|
|
|
NM_001018113.3(FANCB):c.1928-6_1928-5del
|
|
|
NM_001018113.3(FANCB):c.2166-8del
|
|
|
NM_001018113.3(FANCB):c.2439A>G (p.Arg813=)
|
|
|
NM_001018113.3(FANCB):c.30C>A (p.Asn10Lys)
|
rs750078094
|
|
NM_001018113.3(FANCB):c.702C>T (p.Ser234=)
|
|
|
NM_001018113.3(FANCB):c.706G>A (p.Val236Met)
|
rs746389250
|
|
NM_001018113.3(FANCB):c.774C>G (p.Ala258=)
|
rs1168908937
|
|
NM_001018113.3(FANCB):c.864A>G (p.Gln288=)
|
|
|
NM_001018113.3(FANCB):c.898G>A (p.Val300Ile)
|
|
|
NM_001018115.3(FANCD2):c.1135-25G>A
|
rs201770712
|
|
NM_001018115.3(FANCD2):c.1137G>T (p.Val379=)
|
rs72492997
|
|
NM_001018115.3(FANCD2):c.1170C>T (p.Ser390=)
|
rs112887807
|
|
NM_001018115.3(FANCD2):c.1179T>C (p.Thr393=)
|
rs72492998
|
|
NM_001018115.3(FANCD2):c.1214A>G (p.Asn405Ser)
|
rs73126218
|
|
NM_001018115.3(FANCD2):c.1275C>T (p.Tyr425=)
|
rs764447374
|
|
NM_001018115.3(FANCD2):c.1278+15C>T
|
rs144167368
|
|
NM_001018115.3(FANCD2):c.1278+3_1278+5del
|
rs375350046
|
|
NM_001018115.3(FANCD2):c.1401G>A (p.Thr467=)
|
rs12330369
|
|
NM_001018115.3(FANCD2):c.1413+14T>C
|
rs12330599
|
|
NM_001018115.3(FANCD2):c.1413+3A>G
|
rs62245508
|
|
NM_001018115.3(FANCD2):c.1414-9C>T
|
rs35557429
|
|
NM_001018115.3(FANCD2):c.1827+15del
|
|
|
NM_001018115.3(FANCD2):c.1827+15dup
|
|
|
NM_001018115.3(FANCD2):c.2103G>A (p.Pro701=)
|
rs139033444
|
|
NM_001018115.3(FANCD2):c.2494+95C>A
|
rs1575797993
|
|
NM_001018115.3(FANCD2):c.2494+97T>A
|
rs1575797996
|
|
NM_001018115.3(FANCD2):c.2494+98C>A
|
rs1575798002
|
|
NM_001018115.3(FANCD2):c.2606-11del
|
|
|
NM_001018115.3(FANCD2):c.273+12del
|
rs758809407
|
|
NM_001018115.3(FANCD2):c.274-14del
|
|
|
NM_001018115.3(FANCD2):c.3777+83_3777+86del
|
rs773716319
|
|
NM_001018115.3(FANCD2):c.378-6_378-5del
|
rs55973240
|
|
NM_001113378.2(FANCI):c.1703A>G (p.His568Arg)
|
rs555480773
|
|
NM_001113378.2(FANCI):c.1993-10del
|
|
|
NM_001113378.2(FANCI):c.2170-3dup
|
|
|
NM_001113378.2(FANCI):c.2292-12dup
|
|
|
NM_001113378.2(FANCI):c.2292-5dup
|
rs1567165544
|
|
NM_001113378.2(FANCI):c.288+19del
|
|
|
NM_001113378.2(FANCI):c.3187-7del
|
|
|
NM_001113378.2(FANCI):c.3538-6del
|
|
|
NM_001113378.2(FANCI):c.3538-6dup
|
|
|
NM_001113378.2(FANCI):c.3720+14A>G
|
rs200012909
|
|
NM_001113378.2(FANCI):c.3816+17_3816+19del
|
rs374324314
|
|
NM_001113378.2(FANCI):c.3925-7del
|
|
|
NM_001113378.2(FANCI):c.545+16del
|
|
|
NM_001113378.2(FANCI):c.975+10dup
|
rs751890595
|
|
NM_001113378.2(FANCI):c.975+23dup
|
|
|
NM_001113525.2(ZNF276):c.*201C>T
|
rs1230
|
|
NM_001113525.2(ZNF276):c.*523_*538del
|
|
|
NM_001113525.2(ZNF276):c.*607A>G
|
rs1800359
|
|
NM_001114636.1(FANCL):c.-39A>G
|
rs41281511
|
|
NM_001164508.2(NEB):c.10872+27A>C
|
rs10186656
|
|
NM_001164508.2(NEB):c.22161+18G>C
|
rs6721666
|
|
NM_001271938.2(MEGF8):c.1143G>A (p.Pro381=)
|
|
|
NM_001271938.2(MEGF8):c.1197C>T (p.Pro399=)
|
rs149190709
|
|
NM_001271938.2(MEGF8):c.2299-15_2299-12del
|
rs141582110
|
|
NM_001271938.2(MEGF8):c.3350+16dup
|
|
|
NM_001271938.2(MEGF8):c.5344-14del
|
|
|
NM_001271938.2(MEGF8):c.5489-18T>C
|
|
|
NM_001271938.2(MEGF8):c.5686C>T (p.His1896Tyr)
|
|
|
NM_001271938.2(MEGF8):c.5720+11C>T
|
|
|
NM_001271938.2(MEGF8):c.6084G>A (p.Val2028=)
|
rs547635717
|
|
NM_001271938.2(MEGF8):c.6482-16A>G
|
|
|
NM_001271938.2(MEGF8):c.6888C>T (p.Gly2296=)
|
|
|
NM_001271938.2(MEGF8):c.7136+12C>T
|
rs375712517
|
|
NM_001271938.2(MEGF8):c.828+11del
|
rs2147449280
|
|
NM_001278689.2(EOGT):c.1152+10del
|
|
|
NM_001278689.2(EOGT):c.516-18T>C
|
|
|
NM_001278689.2(EOGT):c.562_563inv (p.Lys188Leu)
|
|
|
NM_001278689.2(EOGT):c.807C>T (p.Asp269=)
|
|
|
NM_001330677.2(TBX15):c.1697T>G (p.Met566Arg)
|
rs61730011
|
|
NM_001346754.2(PIGW):c.1030T>C (p.Leu344=)
|
|
|
NM_001346754.2(PIGW):c.21G>A (p.Lys7=)
|
|
|
NM_001346754.2(PIGW):c.309C>G (p.Cys103Trp)
|
|
|
NM_001354587.1(ANKRD36):c.5731dup (p.Gln1911fs)
|
rs752428198
|
|
NM_001374353.1(GLI2):c.2088C>T (p.Ser696=)
|
|
|
NM_001374353.1(GLI2):c.2136C>A (p.Phe712Leu)
|
rs151179617
|
|
NM_001374353.1(GLI2):c.2136C>T (p.Phe712=)
|
rs151179617
|
|
NM_001374353.1(GLI2):c.3552G>A (p.Thr1184=)
|
|
|
NM_001374353.1(GLI2):c.4281_4282delinsAT (p.Met1427_Leu1428delinsIlePhe)
|
rs1553479775
|
|
NM_001374353.1(GLI2):c.4509T>G (p.Asp1503Glu)
|
rs148902971
|
|
NM_001374353.1(GLI2):c.4677C>T (p.Ala1559=)
|
|
|
NM_001374353.1(GLI2):c.643+16C>G
|
rs6718382
|
|
NM_001374353.1(GLI2):c.66C>T (p.Ala22=)
|
|
|
NM_001378183.1(PIEZO2):c.2170-19_2170-18del
|
rs11468237
|
|
NM_001378183.1(PIEZO2):c.7953-9del
|
rs5823112
|
|
NM_001378414.1(HDAC4):c.95-98del
|
rs74761897
|
|
NM_001429.4(EP300):c.1044T>C (p.Ala348=)
|
|
|
NM_001429.4(EP300):c.1077G>A (p.Gly359=)
|
|
|
NM_001429.4(EP300):c.1113A>G (p.Thr371=)
|
|
|
NM_001429.4(EP300):c.1152A>G (p.Ser384=)
|
|
|
NM_001429.4(EP300):c.1283-16C>T
|
rs200548363
|
|
NM_001429.4(EP300):c.1283-19dup
|
|
|
NM_001429.4(EP300):c.1283-6C>G
|
|
|
NM_001429.4(EP300):c.1449A>C (p.Gln483His)
|
|
|
NM_001429.4(EP300):c.156A>G (p.Glu52=)
|
|
|
NM_001429.4(EP300):c.1634G>A (p.Ser545Asn)
|
rs547550163
|
|
NM_001429.4(EP300):c.1785G>A (p.Pro595=)
|
|
|
NM_001429.4(EP300):c.1830A>G (p.Ala610=)
|
|
|
NM_001429.4(EP300):c.1878+19dup
|
|
|
NM_001429.4(EP300):c.1972C>A (p.Leu658Ile)
|
|
|
NM_001429.4(EP300):c.1983T>C (p.Ala661=)
|
|
|
NM_001429.4(EP300):c.2053+18T>C
|
|
|
NM_001429.4(EP300):c.2077A>G (p.Met693Val)
|
|
|
NM_001429.4(EP300):c.208A>G (p.Met70Val)
|
|
|
NM_001429.4(EP300):c.2131+24dup
|
rs766192274
|
|
NM_001429.4(EP300):c.2181C>T (p.Pro727=)
|
|
|
NM_001429.4(EP300):c.2256G>A (p.Gly752=)
|
|
|
NM_001429.4(EP300):c.231A>G (p.Lys77=)
|
|
|
NM_001429.4(EP300):c.2398T>G (p.Ser800Ala)
|
|
|
NM_001429.4(EP300):c.2505A>G (p.Val835=)
|
|
|
NM_001429.4(EP300):c.2520C>T (p.Pro840=)
|
|
|
NM_001429.4(EP300):c.2534C>G (p.Thr845Ser)
|
|
|
NM_001429.4(EP300):c.2573C>T (p.Thr858Ile)
|
|
|
NM_001429.4(EP300):c.257G>A (p.Arg86Gln)
|
|
|
NM_001429.4(EP300):c.2622G>C (p.Gln874His)
|
|
|
NM_001429.4(EP300):c.2676A>G (p.Gln892=)
|
|
|
NM_001429.4(EP300):c.2736G>T (p.Gln912His)
|
|
|
NM_001429.4(EP300):c.2743C>T (p.Arg915Cys)
|
|
|
NM_001429.4(EP300):c.2746T>A (p.Ser916Thr)
|
|
|
NM_001429.4(EP300):c.2789C>T (p.Pro930Leu)
|
|
|
NM_001429.4(EP300):c.2801C>T (p.Pro934Leu)
|
|
|
NM_001429.4(EP300):c.287G>A (p.Gly96Glu)
|
|
|
NM_001429.4(EP300):c.2889T>C (p.Asn963=)
|
|
|
NM_001429.4(EP300):c.2915C>T (p.Pro972Leu)
|
|
|
NM_001429.4(EP300):c.2982G>A (p.Pro994=)
|
|
|
NM_001429.4(EP300):c.3030C>G (p.Thr1010=)
|
rs148414681
|
|
NM_001429.4(EP300):c.3030C>T (p.Thr1010=)
|
rs148414681
|
|
NM_001429.4(EP300):c.3045A>G (p.Arg1015=)
|
|
|
NM_001429.4(EP300):c.3116C>T (p.Pro1039Leu)
|
|
|
NM_001429.4(EP300):c.3143-4del
|
rs757931697
|
|
NM_001429.4(EP300):c.3143-4dup
|
rs757931697
|
|
NM_001429.4(EP300):c.3143-5_3143-4dup
|
rs757931697
|
|
NM_001429.4(EP300):c.3143-6_3143-4dup
|
|
|
NM_001429.4(EP300):c.31C>T (p.Pro11Ser)
|
|
|
NM_001429.4(EP300):c.3282G>A (p.Lys1094=)
|
|
|
NM_001429.4(EP300):c.3354C>T (p.Val1118=)
|
rs11704815
|
|
NM_001429.4(EP300):c.33T>A (p.Pro11=)
|
|
|
NM_001429.4(EP300):c.3447T>C (p.Phe1149=)
|
|
|
NM_001429.4(EP300):c.3636C>T (p.Ser1212=)
|
|
|
NM_001429.4(EP300):c.3690A>G (p.Gln1230=)
|
|
|
NM_001429.4(EP300):c.3806+3A>G
|
rs1601629363
|
|
NM_001429.4(EP300):c.383A>T (p.Gln128Leu)
|
|
|
NM_001429.4(EP300):c.3936A>T (p.Arg1312=)
|
|
|
NM_001429.4(EP300):c.3984T>C (p.Ala1328=)
|
|
|
NM_001429.4(EP300):c.3996C>G (p.Thr1332=)
|
|
|
NM_001429.4(EP300):c.3996C>T (p.Thr1332=)
|
rs142288817
|
|
NM_001429.4(EP300):c.4188T>A (p.Ser1396=)
|
|
|
NM_001429.4(EP300):c.4191C>T (p.Tyr1397=)
|
|
|
NM_001429.4(EP300):c.443C>T (p.Thr148Met)
|
|
|
NM_001429.4(EP300):c.4602C>T (p.Ser1534=)
|
|
|
NM_001429.4(EP300):c.4687C>G (p.Leu1563Val)
|
|
|
NM_001429.4(EP300):c.4687C>T (p.Leu1563=)
|
rs564848230
|
|
NM_001429.4(EP300):c.4798C>G (p.Leu1600Val)
|
rs140154690
|
|
NM_001429.4(EP300):c.4884T>C (p.Asp1628=)
|
|
|
NM_001429.4(EP300):c.4920G>A (p.Glu1640=)
|
|
|
NM_001429.4(EP300):c.512C>T (p.Ala171Val)
|
|
|
NM_001429.4(EP300):c.524C>T (p.Pro175Leu)
|
|
|
NM_001429.4(EP300):c.532T>C (p.Leu178=)
|
|
|
NM_001429.4(EP300):c.5406G>A (p.Pro1802=)
|
|
|
NM_001429.4(EP300):c.5493G>A (p.Arg1831=)
|
|
|
NM_001429.4(EP300):c.5532A>G (p.Gln1844=)
|
|
|
NM_001429.4(EP300):c.5559C>A (p.Ala1853=)
|
|
|
NM_001429.4(EP300):c.5634C>T (p.Thr1878=)
|
|
|
NM_001429.4(EP300):c.5685T>C (p.Pro1895=)
|
|
|
NM_001429.4(EP300):c.5727C>T (p.Thr1909=)
|
|
|
NM_001429.4(EP300):c.5729CTC[1] (p.Pro1911del)
|
|
|
NM_001429.4(EP300):c.5784G>C (p.Met1928Ile)
|
|
|
NM_001429.4(EP300):c.5873C>T (p.Pro1958Leu)
|
|
|
NM_001429.4(EP300):c.5874G>T (p.Pro1958=)
|
|
|
NM_001429.4(EP300):c.5911C>T (p.Pro1971Ser)
|
|
|
NM_001429.4(EP300):c.6090A>G (p.Gln2030=)
|
|
|
NM_001429.4(EP300):c.6108A>T (p.Val2036=)
|
|
|
NM_001429.4(EP300):c.615G>T (p.Met205Ile)
|
|
|
NM_001429.4(EP300):c.6163T>C (p.Leu2055=)
|
|
|
NM_001429.4(EP300):c.6192C>A (p.Pro2064=)
|
|
|
NM_001429.4(EP300):c.6204A>G (p.Gln2068=)
|
|
|
NM_001429.4(EP300):c.6240G>A (p.Leu2080=)
|
|
|
NM_001429.4(EP300):c.6351C>T (p.Thr2117=)
|
|
|
NM_001429.4(EP300):c.6378C>T (p.Ser2126=)
|
|
|
NM_001429.4(EP300):c.6382C>G (p.Pro2128Ala)
|
|
|
NM_001429.4(EP300):c.63G>C (p.Pro21=)
|
|
|
NM_001429.4(EP300):c.6418G>A (p.Val2140Ile)
|
|
|
NM_001429.4(EP300):c.6522C>T (p.Thr2174=)
|
|
|
NM_001429.4(EP300):c.6543C>T (p.Asp2181=)
|
|
|
NM_001429.4(EP300):c.6633C>T (p.Phe2211=)
|
|
|
NM_001429.4(EP300):c.6641C>T (p.Pro2214Leu)
|
|
|
NM_001429.4(EP300):c.6659C>G (p.Pro2220Arg)
|
|
|
NM_001429.4(EP300):c.6696A>G (p.Gln2232=)
|
|
|
NM_001429.4(EP300):c.6743C>T (p.Ala2248Val)
|
|
|
NM_001429.4(EP300):c.6777C>T (p.Ala2259=)
|
|
|
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del)
|
rs533875300
|
|
NM_001429.4(EP300):c.6863A>G (p.Gln2288Arg)
|
|
|
NM_001429.4(EP300):c.6867C>T (p.Ala2289=)
|
|
|
NM_001429.4(EP300):c.6874C>G (p.Pro2292Ala)
|
|
|
NM_001429.4(EP300):c.6921G>A (p.Val2307=)
|
|
|
NM_001429.4(EP300):c.7011A>G (p.Pro2337=)
|
|
|
NM_001429.4(EP300):c.7013A>G (p.His2338Arg)
|
|
|
NM_001429.4(EP300):c.7074C>T (p.Pro2358=)
|
|
|
NM_001429.4(EP300):c.7101G>A (p.Pro2367=)
|
|
|
NM_001429.4(EP300):c.7106A>G (p.Gln2369Arg)
|
|
|
NM_001429.4(EP300):c.7112C>T (p.Ser2371Leu)
|
|
|
NM_001429.4(EP300):c.7120T>G (p.Ser2374Ala)
|
|
|
NM_001429.4(EP300):c.7135A>C (p.Asn2379His)
|
|
|
NM_001429.4(EP300):c.713G>A (p.Gly238Asp)
|
|
|
NM_001429.4(EP300):c.7168G>A (p.Ala2390Thr)
|
|
|
NM_001429.4(EP300):c.7213A>G (p.Asn2405Asp)
|
|
|
NM_001429.4(EP300):c.7216C>T (p.Leu2406Phe)
|
|
|
NM_001429.4(EP300):c.730-18_730-9del
|
rs61120041
|
|
NM_001429.4(EP300):c.750C>T (p.Pro250=)
|
|
|
NM_001429.4(EP300):c.809T>G (p.Leu270Arg)
|
|
|
NM_001429.4(EP300):c.853T>C (p.Ser285Pro)
|
|
|
NM_001429.4(EP300):c.955G>A (p.Val319Ile)
|
|
|
NM_001429.4(EP300):c.963A>G (p.Gln321=)
|
|
|
NM_001793.4(CDH3):c.-629dup
|
rs11440411
|
|
NM_001793.6(CDH3):c.2281-45A>C
|
rs3114409
|
|
NM_001793.6(CDH3):c.612C>A (p.Ile204=)
|
rs8049247
|
|
NM_001982.4(ERBB3):c.2616+16G>C
|
rs76079275
|
|
NM_001999.4(FBN2):c.*962C>G
|
rs565071757
|
|
NM_001999.4(FBN2):c.1038A>G (p.Pro346=)
|
|
|
NM_001999.4(FBN2):c.1079-7T>C
|
|
|
NM_001999.4(FBN2):c.10A>G (p.Arg4Gly)
|
|
|
NM_001999.4(FBN2):c.1200C>A (p.Thr400=)
|
|
|
NM_001999.4(FBN2):c.134A>C (p.Gln45Pro)
|
|
|
NM_001999.4(FBN2):c.1364G>A (p.Gly455Glu)
|
|
|
NM_001999.4(FBN2):c.1423G>C (p.Gly475Arg)
|
rs200440156
|
|
NM_001999.4(FBN2):c.18G>A (p.Arg6=)
|
|
|
NM_001999.4(FBN2):c.2359T>C (p.Leu787=)
|
|
|
NM_001999.4(FBN2):c.2457G>T (p.Leu819=)
|
|
|
NM_001999.4(FBN2):c.251G>A (p.Arg84Gln)
|
rs747084358
|
|
NM_001999.4(FBN2):c.2892C>T (p.Gly964=)
|
|
|
NM_001999.4(FBN2):c.2909G>T (p.Arg970Leu)
|
|
|
NM_001999.4(FBN2):c.3148A>C (p.Thr1050Pro)
|
|
|
NM_001999.4(FBN2):c.3217+12C>A
|
rs375688726
|
|
NM_001999.4(FBN2):c.3321C>T (p.Asp1107=)
|
|
|
NM_001999.4(FBN2):c.3354G>A (p.Glu1118=)
|
|
|
NM_001999.4(FBN2):c.3491G>A (p.Arg1164His)
|
rs1297011367
|
|
NM_001999.4(FBN2):c.363T>C (p.Asp121=)
|
|
|
NM_001999.4(FBN2):c.3786A>C (p.Gly1262=)
|
|
|
NM_001999.4(FBN2):c.3848-10G>T
|
rs140017238
|
|
NM_001999.4(FBN2):c.4135G>A (p.Asp1379Asn)
|
|
|
NM_001999.4(FBN2):c.4271A>C (p.Gln1424Pro)
|
|
|
NM_001999.4(FBN2):c.4283C>T (p.Thr1428Ile)
|
rs367961012
|
|
NM_001999.4(FBN2):c.4341C>T (p.Cys1447=)
|
|
|
NM_001999.4(FBN2):c.4386C>T (p.Asn1462=)
|
|
|
NM_001999.4(FBN2):c.4472-12del
|
rs758812755
|
|
NM_001999.4(FBN2):c.4472-12dup
|
|
|
NM_001999.4(FBN2):c.4485C>T (p.Cys1495=)
|
|
|
NM_001999.4(FBN2):c.4681G>A (p.Asp1561Asn)
|
|
|
NM_001999.4(FBN2):c.5079T>C (p.Ile1693=)
|
|
|
NM_001999.4(FBN2):c.5092G>T (p.Ala1698Ser)
|
|
|
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile)
|
rs147157552
|
|
NM_001999.4(FBN2):c.5481G>C (p.Gln1827His)
|
|
|
NM_001999.4(FBN2):c.5565C>T (p.Ser1855=)
|
|
|
NM_001999.4(FBN2):c.5598C>G (p.Asp1866Glu)
|
|
|
NM_001999.4(FBN2):c.5675-17A>T
|
|
|
NM_001999.4(FBN2):c.5811G>A (p.Glu1937=)
|
|
|
NM_001999.4(FBN2):c.5918-10T>C
|
rs547697385
|
|
NM_001999.4(FBN2):c.5G>A (p.Gly2Glu)
|
rs976599275
|
|
NM_001999.4(FBN2):c.6047-9del
|
|
|
NM_001999.4(FBN2):c.6167-4G>T
|
rs370981323
|
|
NM_001999.4(FBN2):c.6412G>A (p.Asp2138Asn)
|
|
|
NM_001999.4(FBN2):c.6446T>C (p.Val2149Ala)
|
rs191065419
|
|
NM_001999.4(FBN2):c.6570C>T (p.Thr2190=)
|
|
|
NM_001999.4(FBN2):c.6657C>T (p.Ile2219=)
|
|
|
NM_001999.4(FBN2):c.6765C>T (p.Asn2255=)
|
rs140044610
|
|
NM_001999.4(FBN2):c.67G>C (p.Ala23Pro)
|
rs893243344
|
|
NM_001999.4(FBN2):c.6881-15del
|
|
|
NM_001999.4(FBN2):c.6924G>A (p.Arg2308=)
|
|
|
NM_001999.4(FBN2):c.6948C>A (p.Ile2316=)
|
rs17608368
|
|
NM_001999.4(FBN2):c.7176G>A (p.Gln2392=)
|
|
|
NM_001999.4(FBN2):c.7201A>G (p.Ser2401Gly)
|
|
|
NM_001999.4(FBN2):c.7218T>G (p.Thr2406=)
|
|
|
NM_001999.4(FBN2):c.7449C>T (p.Asp2483=)
|
|
|
NM_001999.4(FBN2):c.7554G>A (p.Pro2518=)
|
|
|
NM_001999.4(FBN2):c.756G>A (p.Glu252=)
|
rs565550310
|
|
NM_001999.4(FBN2):c.7650C>G (p.Thr2550=)
|
rs140978642
|
|
NM_001999.4(FBN2):c.7734A>T (p.Gln2578His)
|
|
|
NM_001999.4(FBN2):c.7787G>T (p.Ser2596Ile)
|
|
|
NM_001999.4(FBN2):c.788G>A (p.Arg263Gln)
|
rs769593495
|
|
NM_001999.4(FBN2):c.8034C>T (p.Cys2678=)
|
|
|
NM_001999.4(FBN2):c.8035G>A (p.Ala2679Thr)
|
rs763870762
|
|
NM_001999.4(FBN2):c.8082C>G (p.His2694Gln)
|
rs142755118
|
|
NM_001999.4(FBN2):c.809G>T (p.Arg270Leu)
|
rs148971572
|
|
NM_001999.4(FBN2):c.8226G>A (p.Gly2742=)
|
|
|
NM_001999.4(FBN2):c.8407G>A (p.Val2803Ile)
|
|
|
NM_001999.4(FBN2):c.8538C>T (p.Arg2846=)
|
|
|
NM_001999.4(FBN2):c.8556G>A (p.Gly2852=)
|
|
|
NM_001999.4(FBN2):c.8557C>T (p.Leu2853Phe)
|
|
|
NM_001999.4(FBN2):c.8559C>T (p.Leu2853=)
|
rs778576181
|
|
NM_001999.4(FBN2):c.857T>C (p.Ile286Thr)
|
|
|
NM_002010.3(FGF9):c.*1604C>G
|
rs111765283
|
|
NM_002010.3(FGF9):c.*541C>A
|
rs17070747
|
|
NM_002010.3(FGF9):c.-117dup
|
rs10624265
|
|
NM_002010.3(FGF9):c.-118_-117dup
|
rs10624265
|
|
NM_002010.3(FGF9):c.516G>T (p.Pro172=)
|
rs201876493
|
|
NM_002334.4(LRP4):c.2093-15dup
|
rs375880498
|
|
NM_002334.4(LRP4):c.2814+13_2814+35del
|
|
|
NM_002334.4(LRP4):c.3004+18C>A
|
rs2306028
|
|
NM_002334.4(LRP4):c.3536+16A>T
|
|
|
NM_002334.4(LRP4):c.3536+22C>A
|
rs964551
|
|
NM_002334.4(LRP4):c.3700-21C>G
|
rs2306032
|
|
NM_002334.4(LRP4):c.4890C>T (p.Ala1630=)
|
rs550931351
|
|
NM_002334.4(LRP4):c.4937G>A (p.Arg1646Gln)
|
rs3816614
|
|
NM_002465.4(MYBPC1):c.2013C>T (p.Asp671=)
|
rs149779416
|
|
NM_002470.4(MYH3):c.1960-8del
|
rs3216884
|
|
NM_002470.4(MYH3):c.248C>G (p.Pro83Arg)
|
rs199513213
|
|
NM_002470.4(MYH3):c.2682+30_2682+31del
|
rs34274020
|
|
NM_002470.4(MYH3):c.3138A>C (p.Arg1046=)
|
rs2285475
|
|
NM_002470.4(MYH3):c.3445G>C (p.Glu1149Gln)
|
rs145785711
|
|
NM_002470.4(MYH3):c.349-94dup
|
rs370073463
|
|
NM_002470.4(MYH3):c.3509C>A (p.Ala1170Glu)
|
rs373367650
|
|
NM_002470.4(MYH3):c.3718T>A (p.Ser1240Thr)
|
rs752510156
|
|
NM_002470.4(MYH3):c.4451A>G (p.Lys1484Arg)
|
rs537656234
|
|
NM_002470.4(MYH3):c.4957-115CAAAA[3]
|
rs137999435
|
|
NM_002470.4(MYH3):c.5254G>A (p.Ala1752Thr)
|
rs34393601
|
|
NM_002470.4(MYH3):c.5562+11C>T
|
rs376208076
|
|
NM_002470.4(MYH3):c.5796+30C>T
|
rs12940161
|
|
NM_002470.4(MYH3):c.643-43dup
|
rs3214114
|
|
NM_002472.3(MYH8):c.3117G>A (p.Gly1039=)
|
rs3744553
|
|
NM_002653.5(PITX1):c.793G>A (p.Gly265Ser)
|
rs141612135
|
|
NM_002693.3(POLG):c.*49dup
|
rs3087377
|
|
NM_002968.3(SALL1):c.*588del
|
rs35929381
|
|
NM_002968.3(SALL1):c.1731C>G (p.Pro577=)
|
rs767216757
|
|
NM_002968.3(SALL1):c.1911G>A (p.Ala637=)
|
rs148595195
|
|
NM_002968.3(SALL1):c.2343G>A (p.Leu781=)
|
|
|
NM_002968.3(SALL1):c.3180C>A (p.Leu1060=)
|
rs142054182
|
|
NM_002968.3(SALL1):c.448AGC[11] (p.Ser159dup)
|
rs113614842
|
|
NM_002968.3(SALL1):c.448AGC[12] (p.Ser158_Ser159dup)
|
rs113614842
|
|
NM_002968.3(SALL1):c.448AGC[13] (p.Ser157_Ser159dup)
|
rs113614842
|
|
NM_002968.3(SALL1):c.448AGC[9] (p.Ser159del)
|
rs113614842
|
|
NM_002968.3(SALL1):c.499A>G (p.Thr167Ala)
|
|
|
NM_003289.4(TPM2):c.*7C>T
|
rs79882576
|
|
NM_003289.4(TPM2):c.300C>T (p.Asp100=)
|
rs532190742
|
|
NM_003289.4(TPM2):c.375-12C>A
|
|
|
NM_003289.4(TPM2):c.564-19del
|
rs3215700
|
|
NM_003289.4(TPM2):c.564-19dup
|
rs3215700
|
|
NM_003289.4(TPM2):c.564-20_564-19dup
|
rs3215700
|
|
NM_003289.4(TPM2):c.564-6dup
|
rs1439651784
|
|
NM_003289.4(TPM2):c.773-3del
|
rs35401252
|
|
NM_003289.4(TPM2):c.773-3dup
|
rs35401252
|
|
NM_003289.4(TPM2):c.773-4_773-3dup
|
rs35401252
|
|
NM_003289.4(TPM2):c.773-5_773-3dup
|
rs35401252
|
|
NM_003309.4(TSPYL1):c.523GTG[3] (p.Val176_Lys177insVal)
|
rs56100880
|
|
NM_003334.4(UBA1):c.1233+20G>C
|
|
|
NM_003334.4(UBA1):c.1483G>A (p.Gly495Arg)
|
|
|
NM_003334.4(UBA1):c.15G>A (p.Pro5=)
|
|
|
NM_003334.4(UBA1):c.1695C>T (p.Phe565=)
|
rs782804501
|
|
NM_003334.4(UBA1):c.177-13C>T
|
|
|
NM_003334.4(UBA1):c.1836C>G (p.Pro612=)
|
|
|
NM_003334.4(UBA1):c.2003+10T>C
|
|
|
NM_003334.4(UBA1):c.2134C>T (p.His712Tyr)
|
|
|
NM_003334.4(UBA1):c.2275-17G>A
|
|
|
NM_003334.4(UBA1):c.261C>T (p.Ile87=)
|
|
|
NM_003334.4(UBA1):c.2646+11T>A
|
rs367788670
|
|
NM_003334.4(UBA1):c.2646+11T>C
|
rs367788670
|
|
NM_003334.4(UBA1):c.2823C>T (p.Ala941=)
|
|
|
NM_003334.4(UBA1):c.2839-13_2839-12del
|
|
|
NM_003334.4(UBA1):c.430G>A (p.Val144Ile)
|
rs781887272
|
|
NM_003334.4(UBA1):c.454G>A (p.Val152Ile)
|
|
|
NM_003334.4(UBA1):c.502C>T (p.Pro168Ser)
|
|
|
NM_003334.4(UBA1):c.587+21del
|
|
|
NM_003334.4(UBA1):c.804A>C (p.Lys268Asn)
|
|
|
NM_003722.5(TP63):c.*471A>T
|
rs144018872
|
|
NM_004260.4(RECQL4):c.212A>G (p.Glu71Gly)
|
rs34642881
|
|
NM_004260.4(RECQL4):c.2296del (p.Arg766fs)
|
rs1827625671
|
|
NM_004380.3(CREBBP):c.1095T>C (p.His365=)
|
rs565069106
|
|
NM_004380.3(CREBBP):c.1128G>A (p.Glu376=)
|
|
|
NM_004380.3(CREBBP):c.1389G>A (p.Gly463=)
|
|
|
NM_004380.3(CREBBP):c.140A>G (p.Asn47Ser)
|
|
|
NM_004380.3(CREBBP):c.1565A>G (p.Asn522Ser)
|
|
|
NM_004380.3(CREBBP):c.1655C>A (p.Pro552Gln)
|
|
|
NM_004380.3(CREBBP):c.1656G>A (p.Pro552=)
|
|
|
NM_004380.3(CREBBP):c.1725C>T (p.Ser575=)
|
|
|
NM_004380.3(CREBBP):c.1735A>G (p.Thr579Ala)
|
|
|
NM_004380.3(CREBBP):c.1759G>A (p.Gly587Ser)
|
|
|
NM_004380.3(CREBBP):c.1779C>T (p.His593=)
|
|
|
NM_004380.3(CREBBP):c.181C>A (p.Pro61Thr)
|
|
|
NM_004380.3(CREBBP):c.1923C>T (p.Tyr641=)
|
|
|
NM_004380.3(CREBBP):c.1935C>T (p.Asn645=)
|
|
|
NM_004380.3(CREBBP):c.1941+18G>A
|
|
|
NM_004380.3(CREBBP):c.1942-17A>G
|
|
|
NM_004380.3(CREBBP):c.1986A>G (p.Gln662=)
|
|
|
NM_004380.3(CREBBP):c.2062C>G (p.Pro688Ala)
|
|
|
NM_004380.3(CREBBP):c.2068G>T (p.Ala690Ser)
|
rs531539047
|
|
NM_004380.3(CREBBP):c.2264G>A (p.Ser755Asn)
|
|
|
NM_004380.3(CREBBP):c.2287G>T (p.Ala763Ser)
|
|
|
NM_004380.3(CREBBP):c.2312A>G (p.Gln771Arg)
|
rs147805823
|
|
NM_004380.3(CREBBP):c.2361G>A (p.Ala787=)
|
|
|
NM_004380.3(CREBBP):c.2420G>C (p.Ser807Thr)
|
rs750178517
|
|
NM_004380.3(CREBBP):c.2441C>G (p.Pro814Arg)
|
|
|
NM_004380.3(CREBBP):c.250C>A (p.Pro84Thr)
|
rs770952413
|
|
NM_004380.3(CREBBP):c.2527C>G (p.Leu843Val)
|
|
|
NM_004380.3(CREBBP):c.2537C>G (p.Pro846Arg)
|
|
|
NM_004380.3(CREBBP):c.2585C>T (p.Thr862Met)
|
|
|
NM_004380.3(CREBBP):c.2643G>C (p.Gln881His)
|
|
|
NM_004380.3(CREBBP):c.2644C>T (p.Pro882Ser)
|
|
|
NM_004380.3(CREBBP):c.2663C>T (p.Pro888Leu)
|
|
|
NM_004380.3(CREBBP):c.2702C>T (p.Pro901Leu)
|
|
|
NM_004380.3(CREBBP):c.270C>T (p.Ser90=)
|
|
|
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala)
|
rs143247685
|
|
NM_004380.3(CREBBP):c.2828A>G (p.Gln943Arg)
|
|
|
NM_004380.3(CREBBP):c.2853T>C (p.Pro951=)
|
|
|
NM_004380.3(CREBBP):c.288G>A (p.Gln96=)
|
|
|
NM_004380.3(CREBBP):c.2942C>T (p.Ala981Val)
|
|
|
NM_004380.3(CREBBP):c.2951A>G (p.Asn984Ser)
|
|
|
NM_004380.3(CREBBP):c.2977C>T (p.Pro993Ser)
|
rs886042430
|
|
NM_004380.3(CREBBP):c.2980G>A (p.Val994Met)
|
|
|
NM_004380.3(CREBBP):c.2995A>G (p.Thr999Ala)
|
|
|
NM_004380.3(CREBBP):c.2996C>T (p.Thr999Met)
|
|
|
NM_004380.3(CREBBP):c.3008C>G (p.Ala1003Gly)
|
|
|
NM_004380.3(CREBBP):c.3025G>A (p.Asp1009Asn)
|
|
|
NM_004380.3(CREBBP):c.3200G>A (p.Ser1067Asn)
|
|
|
NM_004380.3(CREBBP):c.3205G>A (p.Gly1069Ser)
|
|
|
NM_004380.3(CREBBP):c.3205G>T (p.Gly1069Cys)
|
rs555109138
|
|
NM_004380.3(CREBBP):c.3240G>A (p.Pro1080=)
|
|
|
NM_004380.3(CREBBP):c.3360C>T (p.Leu1120=)
|
|
|
NM_004380.3(CREBBP):c.3370-16dup
|
rs75459669
|
|
NM_004380.3(CREBBP):c.3370-4del
|
rs75459669
|
|
NM_004380.3(CREBBP):c.3370-5_3370-4del
|
rs75459669
|
|
NM_004380.3(CREBBP):c.3459C>T (p.Tyr1153=)
|
|
|
NM_004380.3(CREBBP):c.3469G>C (p.Val1157Leu)
|
|
|
NM_004380.3(CREBBP):c.3507C>G (p.Arg1169=)
|
|
|
NM_004380.3(CREBBP):c.3738C>T (p.Gly1246=)
|
|
|
NM_004380.3(CREBBP):c.3759C>T (p.Asp1253=)
|
|
|
NM_004380.3(CREBBP):c.382T>C (p.Ser128Pro)
|
|
|
NM_004380.3(CREBBP):c.3924C>T (p.Cys1308=)
|
|
|
NM_004380.3(CREBBP):c.3930C>T (p.Asn1310=)
|
|
|
NM_004380.3(CREBBP):c.395G>A (p.Ser132Asn)
|
|
|
NM_004380.3(CREBBP):c.4104G>A (p.Thr1368=)
|
|
|
NM_004380.3(CREBBP):c.412G>A (p.Ala138Thr)
|
|
|
NM_004380.3(CREBBP):c.444C>G (p.Ser148=)
|
|
|
NM_004380.3(CREBBP):c.45C>G (p.Ala15=)
|
|
|
NM_004380.3(CREBBP):c.4728+8C>T
|
|
|
NM_004380.3(CREBBP):c.4729-14G>A
|
rs130008
|
|
NM_004380.3(CREBBP):c.4729-14G>C
|
rs130008
|
|
NM_004380.3(CREBBP):c.4767C>T (p.Asn1589=)
|
|
|
NM_004380.3(CREBBP):c.4788C>T (p.Asn1596=)
|
|
|
NM_004380.3(CREBBP):c.4806C>T (p.Arg1602=)
|
|
|
NM_004380.3(CREBBP):c.4807G>A (p.Ala1603Thr)
|
|
|
NM_004380.3(CREBBP):c.4835A>G (p.Asn1612Ser)
|
|
|
NM_004380.3(CREBBP):c.4890+16G>A
|
|
|
NM_004380.3(CREBBP):c.4947C>T (p.Ile1649=)
|
|
|
NM_004380.3(CREBBP):c.5001C>T (p.Phe1667=)
|
|
|
NM_004380.3(CREBBP):c.5091C>T (p.Thr1697=)
|
|
|
NM_004380.3(CREBBP):c.5178C>T (p.Tyr1726=)
|
|
|
NM_004380.3(CREBBP):c.5181C>T (p.Asp1727=)
|
|
|
NM_004380.3(CREBBP):c.5199T>C (p.Tyr1733=)
|
|
|
NM_004380.3(CREBBP):c.5264G>A (p.Ser1755Asn)
|
|
|
NM_004380.3(CREBBP):c.5277A>G (p.Pro1759=)
|
|
|
NM_004380.3(CREBBP):c.5628C>T (p.Asn1876=)
|
|
|
NM_004380.3(CREBBP):c.5631G>A (p.Val1877=)
|
|
|
NM_004380.3(CREBBP):c.5739C>T (p.Pro1913=)
|
|
|
NM_004380.3(CREBBP):c.5793C>T (p.Thr1931=)
|
|
|
NM_004380.3(CREBBP):c.5828C>T (p.Pro1943Leu)
|
|
|
NM_004380.3(CREBBP):c.5837C>A (p.Pro1946Gln)
|
rs765600316
|
|
NM_004380.3(CREBBP):c.5839C>T (p.Pro1947Ser)
|
|
|
NM_004380.3(CREBBP):c.5845G>A (p.Ala1949Thr)
|
|
|
NM_004380.3(CREBBP):c.5878C>A (p.Arg1960=)
|
|
|
NM_004380.3(CREBBP):c.5949A>G (p.Pro1983=)
|
|
|
NM_004380.3(CREBBP):c.5972C>T (p.Pro1991Leu)
|
|
|
NM_004380.3(CREBBP):c.6072G>A (p.Ala2024=)
|
|
|
NM_004380.3(CREBBP):c.6137C>T (p.Ala2046Val)
|
|
|
NM_004380.3(CREBBP):c.6237C>A (p.Ser2079=)
|
|
|
NM_004380.3(CREBBP):c.6332A>G (p.Asn2111Ser)
|
|
|
NM_004380.3(CREBBP):c.6357T>G (p.Pro2119=)
|
|
|
NM_004380.3(CREBBP):c.6414C>G (p.Ser2138Arg)
|
|
|
NM_004380.3(CREBBP):c.6445G>A (p.Val2149Met)
|
rs147448293
|
|
NM_004380.3(CREBBP):c.6445G>T (p.Val2149Leu)
|
|
|
NM_004380.3(CREBBP):c.6624A>C (p.Gln2208His)
|
rs142545779
|
|
NM_004380.3(CREBBP):c.6624A>G (p.Gln2208=)
|
rs142545779
|
|
NM_004380.3(CREBBP):c.6693C>T (p.Phe2231=)
|
|
|
NM_004380.3(CREBBP):c.6725C>T (p.Pro2242Leu)
|
|
|
NM_004380.3(CREBBP):c.6726G>A (p.Pro2242=)
|
|
|
NM_004380.3(CREBBP):c.6732G>A (p.Met2244Ile)
|
|
|
NM_004380.3(CREBBP):c.6786C>T (p.Gly2262=)
|
|
|
NM_004380.3(CREBBP):c.6794C>T (p.Ala2265Val)
|
|
|
NM_004380.3(CREBBP):c.6829C>T (p.Pro2277Ser)
|
|
|
NM_004380.3(CREBBP):c.6831G>A (p.Pro2277=)
|
|
|
NM_004380.3(CREBBP):c.6930G>T (p.Gln2310His)
|
|
|
NM_004380.3(CREBBP):c.6932C>T (p.Pro2311Leu)
|
|
|
NM_004380.3(CREBBP):c.6933G>A (p.Pro2311=)
|
|
|
NM_004380.3(CREBBP):c.712G>A (p.Val238Met)
|
rs146887252
|
|
NM_004380.3(CREBBP):c.7198T>C (p.Leu2400=)
|
|
|
NM_004380.3(CREBBP):c.7207C>G (p.Pro2403Ala)
|
|
|
NM_004380.3(CREBBP):c.7255G>A (p.Ala2419Thr)
|
|
|
NM_004380.3(CREBBP):c.7256C>T (p.Ala2419Val)
|
|
|
NM_004380.3(CREBBP):c.7281C>T (p.Val2427=)
|
|
|
NM_004380.3(CREBBP):c.731C>T (p.Thr244Met)
|
|
|
NM_004380.3(CREBBP):c.7326G>A (p.Leu2442=)
|
|
|
NM_004380.3(CREBBP):c.753T>G (p.Thr251=)
|
rs142403441
|
|
NM_004380.3(CREBBP):c.774C>T (p.Thr258=)
|
|
|
NM_004380.3(CREBBP):c.862A>G (p.Met288Val)
|
|
|
NM_004380.3(CREBBP):c.875G>T (p.Gly292Val)
|
|
|
NM_005055.5(RAPSN):c.1166+19del
|
rs760797252
|
|
NM_005055.5(RAPSN):c.1166+19dup
|
|
|
NM_005055.5(RAPSN):c.691-11del
|
rs34729771
|
|
NM_005105.5(RBM8A):c.127+21dup
|
|
|
NM_005105.5(RBM8A):c.206-13del
|
|
|
NM_005105.5(RBM8A):c.206-20T>C
|
rs117017431
|
|
NM_005199.5(CHRNG):c.*477C>A
|
rs59295139
|
|
NM_005199.5(CHRNG):c.921-68del
|
rs10714586
|
|
NM_005236.3(ERCC4):c.1213+11dup
|
|
|
NM_005236.3(ERCC4):c.241G>T (p.Val81Phe)
|
rs55761944
|
|
NM_005236.3(ERCC4):c.974-7_974-6inv
|
|
|
NM_005445.4(SMC3):c.-92G>T
|
rs558632292
|
|
NM_005445.4(SMC3):c.-99C>A
|
rs148267784
|
|
NM_005445.4(SMC3):c.1509+16del
|
|
|
NM_005445.4(SMC3):c.1963+16T>C
|
|
|
NM_005445.4(SMC3):c.2535+28del
|
rs397847637
|
|
NM_005445.4(SMC3):c.2645-8del
|
|
|
NM_005445.4(SMC3):c.270+17_270+18del
|
|
|
NM_005445.4(SMC3):c.270+18del
|
|
|
NM_005445.4(SMC3):c.270+18dup
|
rs756099489
|
|
NM_005445.4(SMC3):c.2893-17A>G
|
|
|
NM_005445.4(SMC3):c.3298-3dup
|
rs750133429
|
|
NM_005445.4(SMC3):c.350+21del
|
|
|
NM_005445.4(SMC3):c.350+21dup
|
|
|
NM_005445.4(SMC3):c.548-5_548-4dup
|
rs199906378
|
|
NM_005445.4(SMC3):c.724-6dup
|
rs11380915
|
|
NM_005592.4(MUSK):c.1250C>T (p.Thr417Ile)
|
rs538655454
|
|
NM_005592.4(MUSK):c.1778+25del
|
|
|
NM_005592.4(MUSK):c.1927+9dup
|
rs555725730
|
|
NM_005592.4(MUSK):c.2485G>T (p.Val829Leu)
|
rs578430
|
|
NM_005592.4(MUSK):c.486+22del
|
|
|
NM_005592.4(MUSK):c.920+25del
|
rs147974075
|
|
NM_006147.3(IRF6):c.-313T>A
|
rs34743335
|
|
NM_006147.4(IRF6):c.390G>A (p.Gly130=)
|
rs34907424
|
|
NM_006147.4(IRF6):c.390G>T (p.Gly130=)
|
rs34907424
|
|
NM_006147.4(IRF6):c.667+27C>G
|
rs2235375
|
|
NM_006265.3(RAD21):c.1564C>G (p.Leu522Val)
|
|
|
NM_006265.3(RAD21):c.1620+11_1620+14del
|
|
|
NM_006265.3(RAD21):c.274+26GTT[5]
|
rs112562183
|
|
NM_006265.3(RAD21):c.689-15C>A
|
|
|
NM_006265.3(RAD21):c.815-10_815-5del
|
rs35902828
|
|
NM_006265.3(RAD21):c.815-15_815-5del
|
|
|
NM_006265.3(RAD21):c.815-5del
|
rs35902828
|
|
NM_006265.3(RAD21):c.815-6_815-5del
|
rs35902828
|
|
NM_006265.3(RAD21):c.938-14del
|
|
|
NM_006296.7(VRK2):c.*102_*105dup
|
rs759217526
|
|
NM_006306.4(SMC1A):c.1005G>T (p.Glu335Asp)
|
|
|
NM_006306.4(SMC1A):c.1057C>T (p.Arg353Trp)
|
|
|
NM_006306.4(SMC1A):c.1113+17del
|
|
|
NM_006306.4(SMC1A):c.1152G>A (p.Lys384=)
|
|
|
NM_006306.4(SMC1A):c.1546-11A>G
|
|
|
NM_006306.4(SMC1A):c.2421-15del
|
|
|
NM_006306.4(SMC1A):c.2421-15dup
|
rs781926382
|
|
NM_006306.4(SMC1A):c.2563-7G>A
|
|
|
NM_006306.4(SMC1A):c.2614G>A (p.Asp872Asn)
|
rs2146593635
|
|
NM_006306.4(SMC1A):c.270G>C (p.Glu90Asp)
|
|
|
NM_006306.4(SMC1A):c.2863-14C>T
|
|
|
NM_006306.4(SMC1A):c.2973+11A>G
|
|
|
NM_006306.4(SMC1A):c.2973+18G>A
|
rs782310979
|
|
NM_006306.4(SMC1A):c.3131-19C>T
|
|
|
NM_006306.4(SMC1A):c.3286-4del
|
rs782700135
|
|
NM_006306.4(SMC1A):c.3508-15C>T
|
|
|
NM_006306.4(SMC1A):c.3592G>A (p.Glu1198Lys)
|
rs782175064
|
|
NM_006306.4(SMC1A):c.497A>G (p.Gln166Arg)
|
rs2146605622
|
|
NM_006306.4(SMC1A):c.616-6G>A
|
rs587784424
|
|
NM_006306.4(SMC1A):c.854+6_854+7del
|
rs1569358983
|
|
NM_006757.4(TNNT3):c.107-134T>G
|
rs2292473
|
|
NM_007294.4(BRCA1):c.2612C>T (p.Pro871Leu)
|
rs799917
|
|
NM_007294.4(BRCA1):c.441+36_441+49del
|
rs373413425
|
|
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly)
|
rs1799966
|
|
NM_012243.3(SLC35A3):c.635-3dup
|
|
|
NM_012243.3(SLC35A3):c.887+25dup
|
|
|
NM_012398.3(PIP5K1C):c.684G>A (p.Ser228=)
|
rs2074957
|
|
NM_013352.4(DSE):c.2619_2621del (p.Gly874del)
|
rs111252008
|
|
NM_014918.5(CHSY1):c.2202G>A (p.Thr734=)
|
|
|
NM_014918.5(CHSY1):c.2232C>T (p.His744=)
|
|
|
NM_014918.5(CHSY1):c.666G>A (p.Gly222=)
|
rs74545602
|
|
NM_014918.5(CHSY1):c.817-11dup
|
rs769105634
|
|
NM_016111.4(TELO2):c.2407+77A>T
|
rs12927760
|
|
NM_016111.4(TELO2):c.933+11del
|
rs11344586
|
|
NM_016277.5(RAB23):c.242-31ATTG[6]
|
rs45542438
|
|
NM_016277.5(RAB23):c.399-15dup
|
|
|
NM_016277.5(RAB23):c.481+17G>A
|
|
|
NM_016653.3(MAP3K20):c.1592C>T (p.Ser531Leu)
|
rs3769148
|
|
NM_017617.5(NOTCH1):c.1045A>C (p.Thr349Pro)
|
rs200520088
|
|
NM_017617.5(NOTCH1):c.1078G>A (p.Glu360Lys)
|
|
|
NM_017617.5(NOTCH1):c.1105C>T (p.Leu369=)
|
|
|
NM_017617.5(NOTCH1):c.1119C>T (p.Asn373=)
|
|
|
NM_017617.5(NOTCH1):c.1196C>A (p.Thr399Asn)
|
|
|
NM_017617.5(NOTCH1):c.1239G>A (p.Val413=)
|
|
|
NM_017617.5(NOTCH1):c.1277C>T (p.Ala426Val)
|
|
|
NM_017617.5(NOTCH1):c.1284G>A (p.Lys428=)
|
rs1466608110
|
|
NM_017617.5(NOTCH1):c.1347C>T (p.Cys449=)
|
|
|
NM_017617.5(NOTCH1):c.1350G>A (p.Glu450=)
|
|
|
NM_017617.5(NOTCH1):c.1353C>T (p.Ile451=)
|
|
|
NM_017617.5(NOTCH1):c.1441+11C>T
|
rs376506127
|
|
NM_017617.5(NOTCH1):c.1483G>A (p.Ala495Thr)
|
|
|
NM_017617.5(NOTCH1):c.1567C>T (p.His523Tyr)
|
rs572103199
|
|
NM_017617.5(NOTCH1):c.164C>T (p.Pro55Leu)
|
|
|
NM_017617.5(NOTCH1):c.167G>A (p.Arg56Gln)
|
|
|
NM_017617.5(NOTCH1):c.1701C>A (p.Ile567=)
|
rs773932034
|
|
NM_017617.5(NOTCH1):c.1711G>A (p.Asp571Asn)
|
rs373125283
|
|
NM_017617.5(NOTCH1):c.1715C>A (p.Pro572His)
|
|
|
NM_017617.5(NOTCH1):c.1746C>T (p.Asp582=)
|
|
|
NM_017617.5(NOTCH1):c.1753G>A (p.Ala585Thr)
|
rs775217381
|
|
NM_017617.5(NOTCH1):c.1768C>T (p.Leu590Phe)
|
|
|
NM_017617.5(NOTCH1):c.178C>A (p.Pro60Thr)
|
|
|
NM_017617.5(NOTCH1):c.1854C>T (p.Cys618=)
|
|
|
NM_017617.5(NOTCH1):c.1978G>A (p.Asp660Asn)
|
rs368996332
|
|
NM_017617.5(NOTCH1):c.2004G>A (p.Pro668=)
|
|
|
NM_017617.5(NOTCH1):c.2046T>C (p.Cys682=)
|
|
|
NM_017617.5(NOTCH1):c.2157G>A (p.Glu719=)
|
|
|
NM_017617.5(NOTCH1):c.2169C>T (p.Asn723=)
|
|
|
NM_017617.5(NOTCH1):c.2176G>A (p.Val726Ile)
|
|
|
NM_017617.5(NOTCH1):c.2328G>A (p.Val776=)
|
|
|
NM_017617.5(NOTCH1):c.2338C>T (p.Arg780Trp)
|
rs756642176
|
|
NM_017617.5(NOTCH1):c.2359A>C (p.Asn787His)
|
|
|
NM_017617.5(NOTCH1):c.2369C>T (p.Thr790Ile)
|
|
|
NM_017617.5(NOTCH1):c.2387C>T (p.Ala796Val)
|
|
|
NM_017617.5(NOTCH1):c.2414C>T (p.Thr805Met)
|
|
|
NM_017617.5(NOTCH1):c.2424C>T (p.Asp808=)
|
|
|
NM_017617.5(NOTCH1):c.2447A>G (p.Asn816Ser)
|
|
|
NM_017617.5(NOTCH1):c.2467+17dup
|
|
|
NM_017617.5(NOTCH1):c.2496G>T (p.Pro832=)
|
rs61751551
|
|
NM_017617.5(NOTCH1):c.2526G>A (p.Gly842=)
|
|
|
NM_017617.5(NOTCH1):c.2587+19C>G
|
rs577190264
|
|
NM_017617.5(NOTCH1):c.2595C>T (p.Thr865=)
|
|
|
NM_017617.5(NOTCH1):c.2619C>T (p.Cys873=)
|
|
|
NM_017617.5(NOTCH1):c.2740+13G>A
|
|
|
NM_017617.5(NOTCH1):c.2793C>T (p.Cys931=)
|
rs557156741
|
|
NM_017617.5(NOTCH1):c.2841C>T (p.Asn947=)
|
|
|
NM_017617.5(NOTCH1):c.2854G>C (p.Asp952His)
|
|
|
NM_017617.5(NOTCH1):c.2902A>G (p.Thr968Ala)
|
|
|
NM_017617.5(NOTCH1):c.2931G>A (p.Gly977=)
|
|
|
NM_017617.5(NOTCH1):c.2970-7del
|
rs34868738
|
|
NM_017617.5(NOTCH1):c.2994C>T (p.Cys998=)
|
|
|
NM_017617.5(NOTCH1):c.301C>A (p.Pro101Thr)
|
rs746491686
|
|
NM_017617.5(NOTCH1):c.3060C>T (p.His1020=)
|
|
|
NM_017617.5(NOTCH1):c.335G>T (p.Arg112Leu)
|
|
|
NM_017617.5(NOTCH1):c.3394C>T (p.Arg1132Cys)
|
|
|
NM_017617.5(NOTCH1):c.3417C>T (p.Gly1139=)
|
rs753526994
|
|
NM_017617.5(NOTCH1):c.3465G>A (p.Gln1155=)
|
|
|
NM_017617.5(NOTCH1):c.352G>A (p.Asp118Asn)
|
rs745590123
|
|
NM_017617.5(NOTCH1):c.3549G>T (p.Glu1183Asp)
|
|
|
NM_017617.5(NOTCH1):c.3579G>T (p.Gln1193His)
|
rs61751544
|
|
NM_017617.5(NOTCH1):c.3643+16C>T
|
|
|
NM_017617.5(NOTCH1):c.3649C>T (p.His1217Tyr)
|
rs1327576450
|
|
NM_017617.5(NOTCH1):c.3677A>G (p.Asn1226Ser)
|
|
|
NM_017617.5(NOTCH1):c.3715T>G (p.Phe1239Val)
|
|
|
NM_017617.5(NOTCH1):c.3788G>T (p.Arg1263Leu)
|
|
|
NM_017617.5(NOTCH1):c.3814C>T (p.Leu1272=)
|
|
|
NM_017617.5(NOTCH1):c.383G>T (p.Arg128Leu)
|
|
|
NM_017617.5(NOTCH1):c.3852C>T (p.Cys1284=)
|
rs377289044
|
|
NM_017617.5(NOTCH1):c.3901+11C>T
|
|
|
NM_017617.5(NOTCH1):c.3915G>A (p.Glu1305=)
|
rs1554728133
|
|
NM_017617.5(NOTCH1):c.3919G>A (p.Val1307Ile)
|
|
|
NM_017617.5(NOTCH1):c.3970G>T (p.Val1324Leu)
|
rs149057410
|
|
NM_017617.5(NOTCH1):c.3977C>T (p.Ser1326Phe)
|
|
|
NM_017617.5(NOTCH1):c.3984C>T (p.Thr1328=)
|
|
|
NM_017617.5(NOTCH1):c.3985G>A (p.Ala1329Thr)
|
rs763098618
|
|
NM_017617.5(NOTCH1):c.4020C>T (p.Phe1340=)
|
|
|
NM_017617.5(NOTCH1):c.4021G>A (p.Glu1341Lys)
|
|
|
NM_017617.5(NOTCH1):c.4031C>G (p.Thr1344Arg)
|
rs201215245
|
|
NM_017617.5(NOTCH1):c.4044C>T (p.Asp1348=)
|
|
|
NM_017617.5(NOTCH1):c.4096G>C (p.Gly1366Arg)
|
rs778270588
|
|
NM_017617.5(NOTCH1):c.410C>T (p.Ser137Leu)
|
|
|
NM_017617.5(NOTCH1):c.4183A>G (p.Asn1395Asp)
|
|
|
NM_017617.5(NOTCH1):c.4221C>T (p.Ser1407=)
|
|
|
NM_017617.5(NOTCH1):c.4325C>T (p.Pro1442Leu)
|
|
|
NM_017617.5(NOTCH1):c.4332G>A (p.Leu1444=)
|
|
|
NM_017617.5(NOTCH1):c.4335C>G (p.Ile1445Met)
|
rs373960609
|
|
NM_017617.5(NOTCH1):c.433G>A (p.Ala145Thr)
|
rs1388726872
|
|
NM_017617.5(NOTCH1):c.4368G>A (p.Glu1456=)
|
|
|
NM_017617.5(NOTCH1):c.4507G>A (p.Gly1503Ser)
|
|
|
NM_017617.5(NOTCH1):c.4587-10dup
|
rs766780122
|
|
NM_017617.5(NOTCH1):c.4597G>A (p.Asp1533Asn)
|
|
|
NM_017617.5(NOTCH1):c.461A>G (p.Gln154Arg)
|
|
|
NM_017617.5(NOTCH1):c.4692T>C (p.His1564=)
|
|
|
NM_017617.5(NOTCH1):c.4753C>T (p.Leu1585=)
|
|
|
NM_017617.5(NOTCH1):c.478G>A (p.Ala160Thr)
|
|
|
NM_017617.5(NOTCH1):c.4797G>C (p.Val1599=)
|
|
|
NM_017617.5(NOTCH1):c.4836C>T (p.Gly1612=)
|
|
|
NM_017617.5(NOTCH1):c.4881C>T (p.Arg1627=)
|
|
|
NM_017617.5(NOTCH1):c.4890C>T (p.Pro1630=)
|
|
|
NM_017617.5(NOTCH1):c.4891A>G (p.Ile1631Val)
|
|
|
NM_017617.5(NOTCH1):c.4903G>A (p.Ala1635Thr)
|
|
|
NM_017617.5(NOTCH1):c.4926C>T (p.Asp1642=)
|
|
|
NM_017617.5(NOTCH1):c.4929C>A (p.Ala1643=)
|
|
|
NM_017617.5(NOTCH1):c.4938C>A (p.Gly1646=)
|
|
|
NM_017617.5(NOTCH1):c.4964G>A (p.Gly1655Asp)
|
|
|
NM_017617.5(NOTCH1):c.4971C>G (p.Ser1657Arg)
|
rs367838230
|
|
NM_017617.5(NOTCH1):c.4971C>T (p.Ser1657=)
|
rs367838230
|
|
NM_017617.5(NOTCH1):c.4982G>A (p.Arg1661Gln)
|
|
|
NM_017617.5(NOTCH1):c.5019-13_5019-10del
|
rs374419074
|
|
NM_017617.5(NOTCH1):c.5025C>T (p.Ile1675=)
|
|
|
NM_017617.5(NOTCH1):c.513T>C (p.His171=)
|
|
|
NM_017617.5(NOTCH1):c.5205C>T (p.His1735=)
|
|
|
NM_017617.5(NOTCH1):c.5342A>G (p.Lys1781Arg)
|
|
|
NM_017617.5(NOTCH1):c.5427C>T (p.Asn1809=)
|
|
|
NM_017617.5(NOTCH1):c.5438G>T (p.Trp1813Leu)
|
rs755659037
|
|
NM_017617.5(NOTCH1):c.5444A>G (p.Asp1815Gly)
|
|
|
NM_017617.5(NOTCH1):c.5472+19G>C
|
rs755674060
|
|
NM_017617.5(NOTCH1):c.5476G>A (p.Glu1826Lys)
|
rs374103443
|
|
NM_017617.5(NOTCH1):c.5605G>A (p.Ala1869Thr)
|
rs200603539
|
|
NM_017617.5(NOTCH1):c.5607C>T (p.Ala1869=)
|
|
|
NM_017617.5(NOTCH1):c.5620G>A (p.Val1874Ile)
|
|
|
NM_017617.5(NOTCH1):c.569G>A (p.Arg190His)
|
rs761616770
|
|
NM_017617.5(NOTCH1):c.5922A>G (p.Gln1974=)
|
rs770803201
|
|
NM_017617.5(NOTCH1):c.592G>A (p.Glu198Lys)
|
|
|
NM_017617.5(NOTCH1):c.5961C>T (p.Asp1987=)
|
|
|
NM_017617.5(NOTCH1):c.5965G>A (p.Asp1989Asn)
|
rs587777734
|
|
NM_017617.5(NOTCH1):c.6060C>T (p.Asp2020=)
|
|
|
NM_017617.5(NOTCH1):c.6066C>T (p.Asn2022=)
|
|
|
NM_017617.5(NOTCH1):c.6070G>A (p.Val2024Ile)
|
|
|
NM_017617.5(NOTCH1):c.61+19G>A
|
rs957002412
|
|
NM_017617.5(NOTCH1):c.613G>C (p.Val205Leu)
|
|
|
NM_017617.5(NOTCH1):c.620G>A (p.Arg207His)
|
rs779118023
|
|
NM_017617.5(NOTCH1):c.6254C>T (p.Ala2085Val)
|
|
|
NM_017617.5(NOTCH1):c.6298A>G (p.Ile2100Val)
|
|
|
NM_017617.5(NOTCH1):c.6368A>G (p.Gln2123Arg)
|
|
|
NM_017617.5(NOTCH1):c.6375C>G (p.His2125Gln)
|
rs369009290
|
|
NM_017617.5(NOTCH1):c.6375C>T (p.His2125=)
|
rs369009290
|
|
NM_017617.5(NOTCH1):c.6396G>C (p.Thr2132=)
|
rs554843595
|
|
NM_017617.5(NOTCH1):c.6403C>T (p.Leu2135=)
|
|
|
NM_017617.5(NOTCH1):c.6430G>A (p.Gly2144Ser)
|
|
|
NM_017617.5(NOTCH1):c.6454G>A (p.Gly2152Ser)
|
rs116317506
|
|
NM_017617.5(NOTCH1):c.6454G>C (p.Gly2152Arg)
|
rs116317506
|
|
NM_017617.5(NOTCH1):c.6535C>T (p.Arg2179Trp)
|
|
|
NM_017617.5(NOTCH1):c.6557G>T (p.Gly2186Val)
|
|
|
NM_017617.5(NOTCH1):c.6563G>T (p.Gly2188Val)
|
|
|
NM_017617.5(NOTCH1):c.658G>A (p.Val220Met)
|
rs754236791
|
|
NM_017617.5(NOTCH1):c.6597C>G (p.Pro2199=)
|
rs374640663
|
|
NM_017617.5(NOTCH1):c.6681G>A (p.Pro2227=)
|
|
|
NM_017617.5(NOTCH1):c.6715G>A (p.Asp2239Asn)
|
|
|
NM_017617.5(NOTCH1):c.6735G>A (p.Gly2245=)
|
|
|
NM_017617.5(NOTCH1):c.6739C>G (p.Leu2247Val)
|
rs377165086
|
|
NM_017617.5(NOTCH1):c.6747G>A (p.Val2249=)
|
rs751544476
|
|
NM_017617.5(NOTCH1):c.6767C>T (p.Ala2256Val)
|
rs759225800
|
|
NM_017617.5(NOTCH1):c.6771G>A (p.Ala2257=)
|
|
|
NM_017617.5(NOTCH1):c.6864C>T (p.Ser2288=)
|
|
|
NM_017617.5(NOTCH1):c.6884A>G (p.Asn2295Ser)
|
|
|
NM_017617.5(NOTCH1):c.6925G>A (p.Glu2309Lys)
|
|
|
NM_017617.5(NOTCH1):c.6983G>T (p.Gly2328Val)
|
|
|
NM_017617.5(NOTCH1):c.7000C>T (p.Pro2334Ser)
|
|
|
NM_017617.5(NOTCH1):c.7065T>C (p.Ala2355=)
|
|
|
NM_017617.5(NOTCH1):c.7120G>T (p.Ala2374Ser)
|
|
|
NM_017617.5(NOTCH1):c.7126C>A (p.Gln2376Lys)
|
rs767497870
|
|
NM_017617.5(NOTCH1):c.7241C>T (p.Pro2414Leu)
|
|
|
NM_017617.5(NOTCH1):c.7326C>T (p.Asp2442=)
|
|
|
NM_017617.5(NOTCH1):c.7355C>T (p.Ala2452Val)
|
|
|
NM_017617.5(NOTCH1):c.743-12del
|
rs774029678
|
|
NM_017617.5(NOTCH1):c.7482G>A (p.Val2494=)
|
rs1268405497
|
|
NM_017617.5(NOTCH1):c.7646G>A (p.Arg2549His)
|
|
|
NM_017617.5(NOTCH1):c.7652C>T (p.Pro2551Leu)
|
|
|
NM_017617.5(NOTCH1):c.804C>T (p.Asn268=)
|
rs774222164
|
|
NM_017617.5(NOTCH1):c.855A>G (p.Pro285=)
|
|
|
NM_017617.5(NOTCH1):c.880G>A (p.Glu294Lys)
|
|
|
NM_017617.5(NOTCH1):c.891C>T (p.Asp297=)
|
|
|
NM_017617.5(NOTCH1):c.997A>C (p.Ser333Arg)
|
rs895972070
|
|
NM_017837.4(PIGV):c.-333C>T
|
rs118069986
|
|
NM_018062.4(FANCL):c.1020+14del
|
|
|
NM_018062.4(FANCL):c.1020+8dup
|
|
|
NM_018062.4(FANCL):c.216+13del
|
rs1558823075
|
|
NM_018062.4(FANCL):c.273+19dup
|
rs372101290
|
|
NM_018062.4(FANCL):c.541-6dup
|
rs746526500
|
|
NM_018062.4(FANCL):c.694AAT[1] (p.Asn233del)
|
rs549637282
|
|
NM_018062.4(FANCL):c.776-10del
|
rs374236117
|
|
NM_018062.4(FANCL):c.776-10dup
|
rs374236117
|
|
NM_018062.4(FANCL):c.776-11_776-10dup
|
rs374236117
|
|
NM_018062.4(FANCL):c.822-15dup
|
rs570217357
|
|
NM_018062.4(FANCL):c.93T>C (p.Ala31=)
|
rs563039004
|
|
NM_018486.3(HDAC8):c.1006-4A>G
|
|
|
NM_018486.3(HDAC8):c.112-17del
|
rs3830710
|
|
NM_018486.3(HDAC8):c.112-18_112-17dup
|
|
|
NM_018486.3(HDAC8):c.112-29dup
|
rs3830710
|
|
NM_018486.3(HDAC8):c.11C>T (p.Pro4Leu)
|
|
|
NM_018486.3(HDAC8):c.12G>A (p.Pro4=)
|
|
|
NM_018486.3(HDAC8):c.166A>G (p.Ile56Val)
|
|
|
NM_018486.3(HDAC8):c.20C>A (p.Pro7Gln)
|
|
|
NM_018486.3(HDAC8):c.474T>C (p.Ala158=)
|
|
|
NM_018486.3(HDAC8):c.669G>T (p.Arg223=)
|
|
|
NM_018486.3(HDAC8):c.911-5G>C
|
|
|
NM_018486.3(HDAC8):c.9_17dup (p.Pro7_Ala8insGluGluPro)
|
|
|
NM_020436.5(SALL4):c.1512C>T (p.Pro504=)
|
|
|
NM_020436.5(SALL4):c.1779G>T (p.Pro593=)
|
rs147254025
|
|
NM_020436.5(SALL4):c.2051ATG[2] (p.Asp686del)
|
rs557068877
|
|
NM_020436.5(SALL4):c.2742+16C>T
|
|
|
NM_020436.5(SALL4):c.3105C>T (p.Gly1035=)
|
|
|
NM_020436.5(SALL4):c.339A>G (p.Glu113=)
|
|
|
NM_020436.5(SALL4):c.762C>T (p.Ala254=)
|
rs141546409
|
|
NM_020639.3(RIPK4):c.*215G>C
|
rs115041500
|
|
NM_020639.3(RIPK4):c.630G>C (p.Ala210=)
|
rs2838114
|
|
NM_020937.4(FANCM):c.1397-15TA[6]
|
rs112326758
|
|
NM_020937.4(FANCM):c.1397-15TA[8]
|
rs112326758
|
|
NM_020937.4(FANCM):c.4387-16del
|
|
|
NM_020937.4(FANCM):c.4515+14del
|
rs747887646
|
|
NM_020937.4(FANCM):c.4516-5_4516-2del
|
rs796584585
|
|
NM_020937.4(FANCM):c.682-7del
|
rs759364320
|
|
NM_020937.4(FANCM):c.682-7dup
|
rs759364320
|
|
NM_020937.4(FANCM):c.876G>T (p.Pro292=)
|
rs150757891
|
|
NM_021922.3(FANCE):c.1378C>G (p.Arg460Gly)
|
rs200535245
|
|
NM_021922.3(FANCE):c.1383+20dup
|
rs770300367
|
|
NM_021922.3(FANCE):c.387A>C (p.Pro129=)
|
rs4713867
|
|
NM_021922.3(FANCE):c.733GGA[1] (p.Gly246del)
|
rs45451605
|
|
NM_021922.3(FANCE):c.901-3del
|
|
|
NM_021939.4(FKBP10):c.1256+17dup
|
rs55720039
|
|
NM_022458.4(LMBR1):c.*136dup
|
rs146572018
|
|
NM_022458.4(LMBR1):c.*2198C>G
|
rs116037533
|
|
NM_022458.4(LMBR1):c.*2992dup
|
rs71838136
|
|
NM_022458.4(LMBR1):c.-183GCT[1]
|
rs370780340
|
|
NM_022458.4(LMBR1):c.1095C>T (p.Gly365=)
|
rs60299355
|
|
NM_022458.4(LMBR1):c.528C>G (p.Ala176=)
|
rs138255184
|
|
NM_022725.4(FANCF):c.-10C>T
|
rs3740615
|
|
NM_023110.3(FGFR1):c.1430+7_1430+9del
|
rs772340109
|
|
NM_023110.3(FGFR1):c.194A>G (p.Asn65Ser)
|
|
|
NM_023110.3(FGFR1):c.221C>T (p.Ala74Val)
|
|
|
NM_032043.3(BRIP1):c.*158T>C
|
rs1978111
|
|
NM_032043.3(BRIP1):c.1473+14del
|
rs876660968
|
|
NM_032043.3(BRIP1):c.1473+14dup
|
rs876660968
|
|
NM_032043.3(BRIP1):c.1935+5GTT[2]
|
rs730881641
|
|
NM_032043.3(BRIP1):c.2098-16del
|
rs1064793669
|
|
NM_032043.3(BRIP1):c.2098-22dup
|
rs1064793669
|
|
NM_032043.3(BRIP1):c.2258-13dup
|
rs2144680932
|
|
NM_032043.3(BRIP1):c.2380-11dup
|
rs2144384661
|
|
NM_032043.3(BRIP1):c.2400C>T (p.Tyr800=)
|
rs574552037
|
|
NM_032043.3(BRIP1):c.2493-10dup
|
rs1457869893
|
|
NM_032043.3(BRIP1):c.380-17del
|
rs545021924
|
|
NM_032043.3(BRIP1):c.380-17dup
|
rs545021924
|
|
NM_032043.3(BRIP1):c.918+17del
|
|
|
NM_032444.4(SLX4):c.1163+10C>G
|
rs80116508
|
|
NM_032444.4(SLX4):c.1163+10C>T
|
rs80116508
|
|
NM_032444.4(SLX4):c.1227G>A (p.Lys409=)
|
rs534443134
|
|
NM_032444.4(SLX4):c.1511C>G (p.Pro504Arg)
|
rs569591337
|
|
NM_032444.4(SLX4):c.258AAG[1] (p.Arg87del)
|
rs536289991
|
|
NM_032444.4(SLX4):c.2854_2855delinsAT (p.Ala952Met)
|
rs863224277
|
|
NM_032444.4(SLX4):c.5154-4del
|
rs2151116057
|
|
NM_032634.4(PIGO):c.2520C>T (p.Leu840=)
|
rs537796918
|
|
NM_032634.4(PIGO):c.2563A>G (p.Ile855Val)
|
|
|
NM_032634.4(PIGO):c.2854+8del
|
rs756312077
|
|
NM_032634.4(PIGO):c.512-17C>T
|
rs2240116
|
|
NM_032634.4(PIGO):c.714C>T (p.Gly238=)
|
rs148186264
|
|
NM_058216.3(RAD51C):c.1026+13T>C
|
rs531535812
|
|
NM_058216.3(RAD51C):c.1027-10del
|
rs768715761
|
|
NM_058216.3(RAD51C):c.1027-10dup
|
rs768715761
|
|
NM_058216.3(RAD51C):c.146-9del
|
|
|
NM_058216.3(RAD51C):c.459T>G (p.Gly153=)
|
rs769486350
|
|
NM_058216.3(RAD51C):c.572-11del
|
rs587780258
|
|
NM_133433.4(NIPBL):c.1495+8_1495+10del
|
rs398124464
|
|
NM_133433.4(NIPBL):c.3305-18A>G
|
|
|
NM_133433.4(NIPBL):c.4290A>G (p.Leu1430=)
|
|
|
NM_133433.4(NIPBL):c.4422-12del
|
rs797045759
|
|
NM_133433.4(NIPBL):c.483C>T (p.Ser161=)
|
|
|
NM_133433.4(NIPBL):c.4921-12T>C
|
|
|
NM_133433.4(NIPBL):c.4986C>T (p.Asn1662=)
|
|
|
NM_133433.4(NIPBL):c.5710-13C>T
|
rs562131143
|
|
NM_133433.4(NIPBL):c.5808+20G>C
|
|
|
NM_133433.4(NIPBL):c.65-20T>G
|
|
|
NM_133433.4(NIPBL):c.6590-12C>T
|
|
|
NM_133433.4(NIPBL):c.6763+20T>C
|
|
|
NM_133433.4(NIPBL):c.6955-9del
|
rs757731487
|
|
NM_133433.4(NIPBL):c.6955-9dup
|
|
|
NM_133433.4(NIPBL):c.7685+19T>G
|
|
|
NM_133433.4(NIPBL):c.7934C>T (p.Ala2645Val)
|
rs1248025959
|
|
NM_133433.4(NIPBL):c.8050-15del
|
|
|
NM_138959.3(VANGL1):c.*1749G>T
|
rs3811010
|
|
NM_138959.3(VANGL1):c.*313A>G
|
rs3811012
|
|
NM_138959.3(VANGL1):c.*4788C>G
|
rs148437823
|
|
NM_138959.3(VANGL1):c.*5008T>A
|
rs117347999
|
|
NM_138959.3(VANGL1):c.*5633T>G
|
rs4348723
|
|
NM_138959.3(VANGL1):c.*6084C>G
|
rs536289395
|
|
NM_138959.3(VANGL1):c.-226G>C
|
rs116216703
|
|
NM_138959.3(VANGL1):c.575T>C (p.Leu192Pro)
|
rs561312836
|
|
NM_147127.5(EVC2):c.1146-12dup
|
|
|
NM_147127.5(EVC2):c.1710+16C>T
|
|
|
NM_147127.5(EVC2):c.1711-10del
|
rs35103377
|
|
NM_147127.5(EVC2):c.1711-11_1711-10del
|
rs35103377
|
|
NM_147127.5(EVC2):c.1711-11_1711-10dup
|
rs35103377
|
|
NM_147127.5(EVC2):c.1711-12_1711-10dup
|
rs35103377
|
|
NM_147127.5(EVC2):c.1711-20dup
|
rs35103377
|
|
NM_147127.5(EVC2):c.2047-18dup
|
|
|
NM_147127.5(EVC2):c.2394_2395delinsAC (p.Asp799His)
|
rs1577169974
|
|
NM_147127.5(EVC2):c.2571C>T (p.Gly857=)
|
rs533262793
|
|
NM_147127.5(EVC2):c.3272+8G>A
|
rs201800139
|
|
NM_147127.5(EVC2):c.3272+8G>C
|
rs201800139
|
|
NM_147127.5(EVC2):c.451-16_451-15del
|
rs377541465
|
|
NM_153717.3(EVC):c.1346C>A (p.Thr449Lys)
|
rs2302075
|
|
NM_153717.3(EVC):c.154C>T (p.Arg52Cys)
|
|
|
NM_153717.3(EVC):c.162C>T (p.Arg54=)
|
rs1305323625
|
|
NM_153717.3(EVC):c.1727G>A (p.Arg576Gln)
|
rs1383180
|
|
NM_153717.3(EVC):c.1777-6G>A
|
rs565093715
|
|
NM_153717.3(EVC):c.1854C>T (p.Gly618=)
|
rs11737221
|
|
NM_153717.3(EVC):c.2449+15del
|
rs398092136
|
|
NM_153717.3(EVC):c.2449+15dup
|
rs398092136
|
|
NM_153717.3(EVC):c.2449+16del
|
|
|
NM_153717.3(EVC):c.2562-3del
|
|
|
NM_153717.3(EVC):c.2562-4C>G
|
rs60082311
|
|
NM_153717.3(EVC):c.2895-10_2895-9del
|
rs371125826
|
|
NM_153717.3(EVC):c.2895-16_2895-13del
|
rs773917688
|
|
NM_153717.3(EVC):c.612C>T (p.Cys204=)
|
rs553634958
|
|
NM_153717.3(EVC):c.71C>A (p.Ala24Glu)
|
|
|
NM_153717.3(EVC):c.802-12_802-11del
|
rs372546602
|
|
NM_153717.3(EVC):c.91G>A (p.Ala31Thr)
|
|
|
NM_173660.5(DOK7):c.1305C>A (p.Gly435=)
|
rs201894731
|
|
NM_173660.5(DOK7):c.220= (p.Leu74=)
|
rs4325970
|
|
NM_173660.5(DOK7):c.54+31_54+33del
|
rs71180187
|
|
NM_173660.5(DOK7):c.54+32_54+33del
|
rs71180187
|
|
NM_173660.5(DOK7):c.54+32_54+33dup
|
rs71180187
|
|
NM_173660.5(DOK7):c.54+33dup
|
rs71180187
|
|
NM_173660.5(DOK7):c.546C>T (p.Phe182=)
|
rs575721820
|
|
NM_173660.5(DOK7):c.55-12del
|
rs1214849085
|
|
NM_173660.5(DOK7):c.653-20G>T
|
rs185980724
|
|
NM_173660.5(DOK7):c.772+13dup
|
|
|
NM_173660.5(DOK7):c.781C>T (p.Arg261Cys)
|
rs142821143
|
|
NM_173660.5(DOK7):c.909T>C (p.Ala303=)
|
|
|
NM_173660.5(DOK7):c.918C>T (p.Ala306=)
|
rs141947707
|
|
NM_173660.5(DOK7):c.967C>T (p.Arg323Cys)
|
rs150728781
|
|
NM_178565.5(RSPO2):c.557T>C (p.Leu186Pro)
|
rs601558
|
|
NM_181486.4(TBX5):c.*1385del
|
rs35534655
|
|
NM_181486.4(TBX5):c.*97G>A
|
rs883079
|
|
NM_181789.4(GLDN):c.794G>A (p.Ser265Asn)
|
rs17648128
|
|
NM_182895.5(SCARF2):c.2187G>C (p.Glu729Asp)
|
rs762551525
|
|
NM_182895.5(SCARF2):c.2236dup (p.Arg746fs)
|
rs2146119376
|
|
NM_182895.5(SCARF2):c.2247C>G (p.Gly749=)
|
rs1421018530
|
|
NM_182895.5(SCARF2):c.2248dup (p.Leu750fs)
|
rs2146119293
|
|
NM_182895.5(SCARF2):c.2287dup (p.Ala763fs)
|
rs2146119159
|
|
NM_182895.5(SCARF2):c.2444C>G (p.Ala815Gly)
|
rs874100
|
|
NM_182961.4(SYNE1):c.11254-31T>G
|
rs6932325
|
|
NM_182961.4(SYNE1):c.11581-15dup
|
rs5880967
|
|
NM_182961.4(SYNE1):c.9495A>G (p.Glu3165=)
|
rs6913579
|
|