NM_000130.5(F5):c.1601= (p.Arg534=)
|
rs6025
|
0.98238
|
NM_000059.4(BRCA2):c.4563A>G (p.Leu1521=)
|
rs206075
|
0.97986
|
NM_000059.4(BRCA2):c.7397T>C (p.Val2466Ala)
|
rs169547
|
0.97902
|
NM_006206.6(PDGFRA):c.1701A>G (p.Pro567=)
|
rs1873778
|
0.96449
|
NM_138694.4(PKHD1):c.1185T>C (p.Asp395=)
|
rs1896976
|
0.96234
|
NM_138694.4(PKHD1):c.5608T>G (p.Leu1870Val)
|
rs2435322
|
0.95778
|
NM_000535.7(PMS2):c.1621A>G (p.Lys541Glu)
|
rs2228006
|
0.86482
|
NM_000203.5(IDUA):c.99T>G (p.His33Gln)
|
rs10794537
|
0.85085
|
NM_000038.6(APC):c.5465T>A (p.Val1822Asp)
|
rs459552
|
0.82099
|
NM_000535.7(PMS2):c.780C>G (p.Ser260=)
|
rs1805319
|
0.82058
|
NM_004360.5(CDH1):c.48+6C>T
|
rs3743674
|
0.80384
|
NM_004415.4(DSP):c.2091A>G (p.Gly697=)
|
rs2076304
|
0.76849
|
NM_000179.3(MSH6):c.3802-40C>G
|
rs3136367
|
0.73398
|
NM_000152.5(GAA):c.324T>C (p.Cys108=)
|
rs1800300
|
0.71989
|
NM_000152.5(GAA):c.2338G>A (p.Val780Ile)
|
rs1126690
|
0.71839
|
NM_000552.5(VWF):c.4641T>C (p.Thr1547=)
|
rs216310
|
0.71518
|
NM_000552.5(VWF):c.4141A>G (p.Thr1381Ala)
|
rs216311
|
0.71493
|
NM_004360.5(CDH1):c.2076T>C (p.Ala692=)
|
rs1801552
|
0.70379
|
NM_014251.3(SLC25A13):c.328+6A>G
|
rs6957975
|
0.67687
|
NM_000152.5(GAA):c.596A>G (p.His199Arg)
|
rs1042393
|
0.65667
|
NM_000152.5(GAA):c.547-4C>G
|
rs3816256
|
0.65665
|
NM_000152.5(GAA):c.668G>A (p.Arg223His)
|
rs1042395
|
0.65662
|
NM_000152.5(GAA):c.955+12G>A
|
rs2252455
|
0.65487
|
NM_000152.5(GAA):c.1203G>A (p.Gln401=)
|
rs1800304
|
0.65453
|
NM_000243.3(MEFV):c.942C>T (p.Arg314=)
|
rs224213
|
0.61317
|
NM_001308093.3(GATA4):c.1000+56C>A
|
rs804280
|
0.61291
|
NM_000038.6(APC):c.5034G>A (p.Gly1678=)
|
rs42427
|
0.59504
|
NM_000038.6(APC):c.5880G>A (p.Pro1960=)
|
rs465899
|
0.59308
|
NM_000038.6(APC):c.5268T>G (p.Ser1756=)
|
rs866006
|
0.59230
|
NM_000038.6(APC):c.4479G>A (p.Thr1493=)
|
rs41115
|
0.59177
|
NM_000038.6(APC):c.1635G>A (p.Ala545=)
|
rs351771
|
0.59150
|
NM_000152.5(GAA):c.2553G>A (p.Gly851=)
|
rs1042397
|
0.57872
|
NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala)
|
rs1801249
|
0.57256
|
NC_000013.11:g.36371620A>C
|
rs1417841
|
0.57058
|
NM_000053.4(ATP7B):c.2855G>A (p.Arg952Lys)
|
rs732774
|
0.56484
|
NM_000251.3(MSH2):c.211+9C>G
|
rs2303426
|
0.55454
|
NM_000053.4(ATP7B):c.2495A>G (p.Lys832Arg)
|
rs1061472
|
0.54674
|
NM_000179.3(MSH6):c.3556+146G>A
|
rs7562048
|
0.54192
|
NM_000059.4(BRCA2):c.7806-14T>C
|
rs9534262
|
0.53977
|
NM_000053.4(ATP7B):c.3903+6C>T
|
rs2282057
|
0.53754
|
NM_138694.4(PKHD1):c.12143A>G (p.Gln4048Arg)
|
rs9381994
|
0.52715
|
NM_138694.4(PKHD1):c.11696A>G (p.Gln3899Arg)
|
rs4715227
|
0.52431
|
NM_000059.4(BRCA2):c.8755-66T>C
|
rs4942486
|
0.51824
|
NM_000257.4(MYH7):c.189C>T (p.Thr63=)
|
rs2069540
|
0.51584
|
NM_000552.5(VWF):c.1451A>G (p.His484Arg)
|
rs1800378
|
0.51348
|
NM_138694.4(PKHD1):c.7587G>A (p.Gly2529=)
|
rs12210295
|
0.49949
|
NM_000243.3(MEFV):c.306T>C (p.Asp102=)
|
rs224225
|
0.48544
|
NM_000243.3(MEFV):c.495C>A (p.Ala165=)
|
rs224223
|
0.48450
|
NM_000038.6(APC):c.1458T>C (p.Tyr486=)
|
rs2229992
|
0.46792
|
NC_000007.14:g.101247300A>T
|
rs6953617
|
0.46212
|
NM_138694.4(PKHD1):c.8302+12T>A
|
rs1571084
|
0.45597
|
NM_000312.4(PROC):c.-50A>T
|
rs1799810
|
0.44475
|
NM_000257.4(MYH7):c.2967T>C (p.Ile989=)
|
rs7157716
|
0.43030
|
NM_000552.5(VWF):c.1548T>C (p.Tyr516=)
|
rs1800379
|
0.41956
|
NM_000053.4(ATP7B):c.1366G>C (p.Val456Leu)
|
rs1801244
|
0.41941
|
NM_000249.4(MLH1):c.1668-19A>G
|
rs9876116
|
0.41821
|
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala)
|
rs1801243
|
0.41549
|
NM_138694.4(PKHD1):c.2278C>T (p.Arg760Cys)
|
rs9370096
|
0.41404
|
NM_138694.4(PKHD1):c.3785C>T (p.Ala1262Val)
|
rs9296669
|
0.41087
|
NM_000552.5(VWF):c.2365A>G (p.Thr789Ala)
|
rs1063856
|
0.40814
|
NM_000552.5(VWF):c.2385T>C (p.Tyr795=)
|
rs1063857
|
0.40791
|
NM_004329.3(BMPR1A):c.4C>A (p.Pro2Thr)
|
rs11528010
|
0.40719
|
NM_000251.3(MSH2):c.1661+12G>A
|
rs3732183
|
0.40290
|
NM_000243.3(MEFV):c.1760-30T>A
|
rs1231123
|
0.39404
|
NM_138694.4(PKHD1):c.7734-4T>C
|
rs7452724
|
0.39369
|
NM_138694.4(PKHD1):c.7764A>G (p.Leu2588=)
|
rs9349603
|
0.39323
|
NM_001308093.3(GATA4):c.1150-107A>G
|
rs745379
|
0.39169
|
NM_000540.3(RYR1):c.7835+5A>G
|
rs1469695
|
0.38217
|
NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser)
|
rs1805321
|
0.37107
|
NM_014251.3(SLC25A13):c.1194A>G (p.Leu398=)
|
rs2301629
|
0.34968
|
NM_000540.3(RYR1):c.8190T>C (p.Asp2730=)
|
rs2915951
|
0.33482
|
NM_000159.4(GCDH):c.*288G>T
|
rs9384
|
0.33464
|
NM_000540.3(RYR1):c.7977G>A (p.Thr2659=)
|
rs2229144
|
0.33092
|
NM_000540.3(RYR1):c.8118T>C (p.Ile2706=)
|
rs2960340
|
0.33086
|
NM_000059.4(BRCA2):c.631+183T>A
|
rs3752451
|
0.32939
|
NM_000540.3(RYR1):c.8589T>C (p.Ser2863=)
|
rs2229146
|
0.32548
|
NM_000540.3(RYR1):c.9186A>G (p.Pro3062=)
|
rs2071089
|
0.32394
|
NM_000179.3(MSH6):c.3438+14A>T
|
rs2020911
|
0.32279
|
NM_001009944.3(PKD1):c.12276A>G (p.Ala4092=)
|
rs3087632
|
0.32172
|
NM_000540.3(RYR1):c.8693-10G>C
|
rs2915958
|
0.32159
|
NM_000540.3(RYR1):c.8337G>A (p.Glu2779=)
|
rs2915952
|
0.32150
|
NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala)
|
rs1802683
|
0.30966
|
NM_000071.3(CBS):c.1080C>T (p.Ala360=)
|
rs1801181
|
0.30942
|
NM_007294.4(BRCA1):c.4485-63C>G
|
rs273900734
|
0.30900
|
NM_007294.4(BRCA1):c.2082C>T (p.Ser694=)
|
rs1799949
|
0.30810
|
NM_007294.4(BRCA1):c.4987-68A>G
|
rs8176234
|
0.30809
|
NM_007294.4(BRCA1):c.3548A>G (p.Lys1183Arg)
|
rs16942
|
0.30784
|
NM_007294.4(BRCA1):c.4987-92A>G
|
rs8176233
|
0.30647
|
NM_138694.4(PKHD1):c.9237G>A (p.Ala3079=)
|
rs765525
|
0.30589
|
NM_007294.4(BRCA1):c.5152+66G>A
|
rs3092994
|
0.30314
|
NM_001009944.3(PKD1):c.12133A>G (p.Ile4045Val)
|
rs10960
|
0.30294
|
NM_138694.4(PKHD1):c.234C>T (p.Asp78=)
|
rs9474143
|
0.29769
|
NM_000130.5(F5):c.4095C>T (p.Thr1365=)
|
rs9332607
|
0.29522
|
NM_007294.4(BRCA1):c.4308T>C (p.Ser1436=)
|
rs1060915
|
0.29170
|
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly)
|
rs16941
|
0.29115
|
NM_007294.4(BRCA1):c.2311T>C (p.Leu771=)
|
rs16940
|
0.29035
|
NM_000059.4(BRCA2):c.3396A>G (p.Lys1132=)
|
rs1801406
|
0.28273
|
NM_178857.6(RP1L1):c.4019A>G (p.Glu1340Gly)
|
rs9657518
|
0.28032
|
NM_001009944.3(PKD1):c.7165T>C (p.Leu2389=)
|
rs2457533
|
0.27959
|
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val)
|
rs1801133
|
0.27446
|
NM_000257.4(MYH7):c.732C>T (p.Phe244=)
|
rs2069542
|
0.27385
|
NM_000312.4(PROC):c.768T>C (p.Asp256=)
|
rs5937
|
0.27234
|
NM_001009944.3(PKD1):c.1850-4A>G
|
rs35929659
|
0.26721
|
NM_001048174.2(MUTYH):c.930G>C (p.Gln310His)
|
rs3219489
|
0.26720
|
NM_000552.5(VWF):c.2880G>A (p.Arg960=)
|
rs1800380
|
0.25897
|
NM_001009944.3(PKD1):c.5172C>T (p.Ala1724=)
|
rs9935526
|
0.25800
|
NM_001009944.3(PKD1):c.7441C>T (p.Leu2481=)
|
rs2003782
|
0.25615
|
NM_001009944.3(PKD1):c.4665A>C (p.Ala1555=)
|
rs71385734
|
0.24531
|
NM_014625.4(NPHS2):c.-51G>T
|
rs12406197
|
0.23878
|
NM_000179.3(MSH6):c.540T>C (p.Asp180=)
|
rs1800935
|
0.23857
|
NM_000297.4(PKD2):c.83G>C (p.Arg28Pro)
|
rs1805044
|
0.23760
|
NM_007294.4(BRCA1):c.5074+65G>A
|
rs8176235
|
0.23738
|
NM_000540.3(RYR1):c.7614+10C>G
|
rs2960323
|
0.23284
|
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His)
|
rs144848
|
0.23116
|
NM_000249.4(MLH1):c.655A>G (p.Ile219Val)
|
rs1799977
|
0.23048
|
NM_001099667.3(ARMS2):c.205G>T (p.Ala69Ser)
|
rs10490924
|
0.22973
|
NM_001009944.3(PKD1):c.9330T>C (p.Pro3110=)
|
rs12926160
|
0.22231
|
NM_000071.3(CBS):c.*123C>G
|
rs1051319
|
0.21968
|
NM_000059.4(BRCA2):c.681+56C>T
|
rs2126042
|
0.21010
|
NM_000243.3(MEFV):c.605G>A (p.Arg202Gln)
|
rs224222
|
0.20976
|
NM_001009944.3(PKD1):c.3275T>C (p.Met1092Thr)
|
rs2549677
|
0.20904
|
NM_001009944.3(PKD1):c.3063T>C (p.Gly1021=)
|
rs2369068
|
0.20812
|
NM_000059.4(BRCA2):c.-26G>A
|
rs1799943
|
0.20795
|
NM_006206.6(PDGFRA):c.2472C>T (p.Val824=)
|
rs2228230
|
0.20293
|
NM_025000.4(DCAF17):c.322-14C>T
|
rs192861143
|
0.20151
|
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser)
|
rs2071421
|
0.19530
|
NM_001009944.3(PKD1):c.7913A>G (p.His2638Arg)
|
rs9936785
|
0.19138
|
NM_000179.3(MSH6):c.116G>A (p.Gly39Glu)
|
rs1042821
|
0.18742
|
NM_001009944.3(PKD1):c.7708T>C (p.Leu2570=)
|
rs28575767
|
0.18662
|
NM_000059.4(BRCA2):c.3807T>C (p.Val1269=)
|
rs543304
|
0.18381
|
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln)
|
rs1126809
|
0.18094
|
NM_001009944.3(PKD1):c.9569-13T>C
|
rs11248911
|
0.16978
|
NM_000540.3(RYR1):c.7863C>T (p.His2621=)
|
rs2229142
|
0.16420
|
NM_001009944.3(PKD1):c.1119= (p.Leu373=)
|
rs35842
|
0.16401
|
NM_000455.5(STK11):c.920+7G>C
|
rs2075607
|
0.16357
|
NM_000130.5(F5):c.3853C>A (p.Leu1285Ile)
|
rs1046712
|
0.16155
|
NM_000041.4(APOE):c.388T>C (p.Cys130Arg)
|
rs429358
|
0.16059
|
NM_007294.4(BRCA1):c.442-34C>T
|
rs799923
|
0.15730
|
NM_000552.5(VWF):c.6846A>G (p.Thr2282=)
|
rs1053523
|
0.15412
|
NM_000059.4(BRCA2):c.*105A>C
|
rs15869
|
0.15131
|
NM_000179.3(MSH6):c.276A>G (p.Pro92=)
|
rs1800932
|
0.14697
|
NM_001009944.3(PKD1):c.3372C>T (p.Ala1124=)
|
rs75510884
|
0.14645
|
NM_001009944.3(PKD1):c.3375C>T (p.Ser1125=)
|
rs74331768
|
0.14545
|
NM_004415.4(DSP):c.4535A>G (p.Tyr1512Cys)
|
rs2076299
|
0.13777
|
NM_000535.7(PMS2):c.1621= (p.Lys541=)
|
rs2228006
|
0.13518
|
NM_000179.3(MSH6):c.260+22C>G
|
rs55927047
|
0.13136
|
NM_138694.4(PKHD1):c.1234-10T>A
|
rs4715272
|
0.12902
|
NM_000179.3(MSH6):c.186C>A (p.Arg62=)
|
rs1042820
|
0.12806
|
NM_000540.3(RYR1):c.10687-7C>T
|
rs2960354
|
0.12378
|
NM_000535.7(PMS2):c.2007-4G>A
|
rs1805326
|
0.12350
|
NM_000535.7(PMS2):c.2007-7C>T
|
rs55954143
|
0.12135
|
NM_000535.7(PMS2):c.2466T>C (p.Leu822=)
|
rs10000
|
0.11447
|
NM_002691.4(POLD1):c.2244T>C (p.Ser748=)
|
rs1274607
|
0.10634
|
NM_000540.3(RYR1):c.7098C>T (p.Pro2366=)
|
rs2229147
|
0.10248
|
NM_000410.4(HFE):c.187C>G (p.His63Asp)
|
rs1799945
|
0.10170
|
NM_004360.5(CDH1):c.1937-13T>C
|
rs2276330
|
0.09635
|
NM_001009944.3(PKD1):c.10535C>T (p.Ala3512Val)
|
rs34197769
|
0.09456
|
NM_138694.4(PKHD1):c.214C>T (p.Leu72=)
|
rs6901799
|
0.09338
|
NM_000033.4(ABCD1):c.-59C>T
|
rs4148030
|
0.09150
|
NM_000251.3(MSH2):c.1511-9A>T
|
rs12998837
|
0.09123
|
NM_001308093.3(GATA4):c.1132A>G (p.Ser378Gly)
|
rs3729856
|
0.09064
|
NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter)
|
rs17602729
|
0.08701
|
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)
|
rs1050829
|
0.08672
|
NM_000297.4(PKD2):c.420G>A (p.Gly140=)
|
rs2728118
|
0.08616
|
NM_000251.3(MSH2):c.2006-6T>C
|
rs2303428
|
0.08349
|
NM_000041.2(APOE):c.526C>T (p.Arg176Cys)
|
rs7412
|
0.07986
|
NM_000218.3(KCNQ1):c.1590+14T>C
|
rs11024034
|
0.07860
|
NM_138694.4(PKHD1):c.2046A>C (p.Pro682=)
|
rs4715271
|
0.07716
|
NM_000179.3(MSH6):c.642C>T (p.Tyr214=)
|
rs1800937
|
0.07457
|
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln)
|
rs10254120
|
0.07445
|
NM_003476.5(CSRP3):c.336G>A (p.Ala112=)
|
rs13451
|
0.07238
|
NM_000155.4(GALT):c.940A>G (p.Asn314Asp)
|
rs2070074
|
0.07150
|
NM_006231.4(POLE):c.2469-15G>A
|
rs5744833
|
0.07057
|
NM_001009944.3(PKD1):c.4195T>C (p.Trp1399Arg)
|
rs116092985
|
0.07036
|
NM_138694.4(PKHD1):c.10521C>T (p.His3507=)
|
rs34460237
|
0.06613
|
NM_000540.3(RYR1):c.7089C>T (p.Cys2363=)
|
rs2228071
|
0.06536
|
NM_000051.4(ATM):c.378T>A (p.Asp126Glu)
|
rs2234997
|
0.06244
|
NM_000257.4(MYH7):c.1062C>T (p.Gly354=)
|
rs735712
|
0.06133
|
NM_001009944.3(PKD1):c.4674G>A (p.Thr1558=)
|
rs79884128
|
0.06100
|
NM_001128164.2(ATXN1):c.627T>G (p.His209Gln)
|
rs11969612
|
0.05921
|
NM_001009944.3(PKD1):c.12176C>T (p.Ala4059Val)
|
rs3209986
|
0.05783
|
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn)
|
rs4986850
|
0.05782
|
NM_000130.5(F5):c.730+7C>T
|
rs6023
|
0.05754
|
NM_000535.7(PMS2):c.1454C>A (p.Thr485Lys)
|
rs1805323
|
0.05742
|
NM_001009944.3(PKD1):c.12409C>T (p.Leu4137=)
|
rs79899502
|
0.05705
|
NM_001009944.3(PKD1):c.8898G>C (p.Glu2966Asp)
|
rs13337123
|
0.05636
|
NM_000249.4(MLH1):c.1558+14G>A
|
rs41562513
|
0.05554
|
NM_001009944.3(PKD1):c.8644T>A (p.Trp2882Arg)
|
rs13333553
|
0.05104
|
NM_001009944.3(PKD1):c.2700G>A (p.Pro900=)
|
rs35667726
|
0.05044
|
NM_001009944.3(PKD1):c.2730C>T (p.Asp910=)
|
rs35965348
|
0.05024
|
NM_138694.4(PKHD1):c.1587T>C (p.Asn529=)
|
rs62406036
|
0.05014
|
NM_138694.4(PKHD1):c.2489A>G (p.Asn830Ser)
|
rs62406032
|
0.05010
|
NM_138694.4(PKHD1):c.11509G>A (p.Val3837Ile)
|
rs9474034
|
0.04948
|
NM_002386.4(MC1R):c.478C>T (p.Arg160Trp)
|
rs1805008
|
0.04851
|
NM_002386.4(MC1R):c.451C>T (p.Arg151Cys)
|
rs1805007
|
0.04832
|
NM_001048174.2(MUTYH):c.22G>A (p.Val8Met)
|
rs3219484
|
0.04794
|
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg)
|
rs1799950
|
0.04695
|
NM_000540.3(RYR1):c.13317C>T (p.Ala4439=)
|
rs113579185
|
0.04642
|
NM_002691.4(POLD1):c.1548C>T (p.Ala516=)
|
rs2230247
|
0.04514
|
NM_002691.4(POLD1):c.1539G>A (p.Leu513=)
|
rs2230246
|
0.04513
|
NM_138694.4(PKHD1):c.11714T>A (p.Ile3905Asn)
|
rs2661488
|
0.04490
|
NM_000535.7(PMS2):c.2006+6G>A
|
rs111905775
|
0.04390
|
NM_000123.4(ERCC5):c.1586G>C (p.Cys529Ser)
|
rs2227869
|
0.04366
|
NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp)
|
rs1799944
|
0.04357
|
NM_004329.3(BMPR1A):c.435G>A (p.Pro145=)
|
rs11818239
|
0.04296
|
NM_001009944.3(PKD1):c.10225G>C (p.Val3409Leu)
|
rs61747420
|
0.04243
|
NM_004329.3(BMPR1A):c.675+12G>A
|
rs12267107
|
0.04183
|
NM_001009944.3(PKD1):c.5827G>A (p.Val1943Ile)
|
rs137978188
|
0.04174
|
NM_007194.4(CHEK2):c.252A>G (p.Glu84=)
|
rs1805129
|
0.04009
|
NM_001009944.3(PKD1):c.1023C>T (p.Ala341=)
|
rs11643513
|
0.03937
|
NM_004360.5(CDH1):c.531+10G>C
|
rs33963999
|
0.03907
|
NM_138694.4(PKHD1):c.3756G>C (p.Leu1252=)
|
rs9689306
|
0.03897
|
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)
|
rs1800562
|
0.03880
|
NM_001009944.3(PKD1):c.3111A>G (p.Leu1037=)
|
rs2099534
|
0.03878
|
NM_004360.5(CDH1):c.2253C>T (p.Asn751=)
|
rs33964119
|
0.03869
|
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val)
|
rs1801426
|
0.03864
|
NM_001009944.3(PKD1):c.5454G>A (p.Ala1818=)
|
rs143916489
|
0.03762
|
NM_138694.4(PKHD1):c.11340T>C (p.Pro3780=)
|
rs17667728
|
0.03744
|
NM_000059.4(BRCA2):c.425+67A>C
|
rs11571610
|
0.03705
|
NM_000059.4(BRCA2):c.426-89T>C
|
rs3783265
|
0.03704
|
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_000059.4(BRCA2):c.7435+53C>T
|
rs11147489
|
0.03657
|
NM_005343.4(HRAS):c.-10C>T
|
rs41294870
|
0.03593
|
NM_002691.4(POLD1):c.1860G>A (p.Thr620=)
|
rs1726790
|
0.03590
|
NM_002691.4(POLD1):c.971-12C>T
|
rs1673044
|
0.03582
|
NM_002691.4(POLD1):c.234C>G (p.Arg78=)
|
rs2228665
|
0.03571
|
NM_001009944.3(PKD1):c.10822-14C>T
|
rs7192711
|
0.03494
|
NM_001009944.3(PKD1):c.8913T>C (p.Ala2971=)
|
rs9926309
|
0.03447
|
NM_004360.5(CDH1):c.48+5C>G
|
rs77312180
|
0.03370
|
NM_001009944.3(PKD1):c.2216= (p.Arg739=)
|
rs40433
|
0.03313
|
NM_000155.4(GALT):c.945T>C (p.His315=)
|
rs61735982
|
0.03311
|
NM_001009944.3(PKD1):c.5763G>A (p.Leu1921=)
|
rs2575313
|
0.03243
|
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
NM_138694.4(PKHD1):c.5896C>T (p.Leu1966=)
|
rs1266923
|
0.03202
|
NM_000051.4(ATM):c.4578C>T (p.Pro1526=)
|
rs1800889
|
0.03196
|
NM_001009944.3(PKD1):c.10368C>T (p.Ala3456=)
|
rs7194935
|
0.03183
|
NM_002691.4(POLD1):c.518G>A (p.Ser173Asn)
|
rs1726803
|
0.03166
|
NM_001009944.3(PKD1):c.1714C>T (p.Pro572Ser)
|
rs149022148
|
0.03132
|
NM_000038.6(APC):c.7704A>G (p.Gly2568=)
|
rs35043160
|
0.02992
|
NM_000051.4(ATM):c.3403-15T>A
|
rs79701258
|
0.02975
|
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)
|
rs17580
|
0.02950
|
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg)
|
rs61750126
|
0.02895
|
NM_001009944.3(PKD1):c.2854-5C>T
|
rs114846412
|
0.02895
|
NM_001009944.3(PKD1):c.7642G>C (p.Glu2548Gln)
|
rs28369051
|
0.02881
|
NM_001009944.3(PKD1):c.2214C>G (p.Pro738=)
|
rs543166733
|
0.02846
|
NM_000051.4(ATM):c.657T>C (p.Cys219=)
|
rs2235003
|
0.02841
|
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln)
|
rs61747728
|
0.02796
|
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val)
|
rs35947132
|
0.02791
|
NM_002691.4(POLD1):c.1173C>T (p.Asp391=)
|
rs2230244
|
0.02764
|
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile)
|
rs34526199
|
0.02732
|
NM_006231.4(POLE):c.3379-5T>C
|
rs5744886
|
0.02670
|
NM_000455.5(STK11):c.816C>T (p.Tyr272=)
|
rs9282859
|
0.02603
|
NM_000051.4(ATM):c.1254A>G (p.Gln418=)
|
rs4987943
|
0.02542
|
NM_024675.4(PALB2):c.3300T>G (p.Thr1100=)
|
rs45516100
|
0.02529
|
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met)
|
rs74902811
|
0.02492
|
NM_000051.4(ATM):c.8786+8A>C
|
rs4986839
|
0.02488
|
NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met)
|
rs45500692
|
0.02436
|
NM_004329.3(BMPR1A):c.1342+6A>G
|
rs55763614
|
0.02404
|
NM_000136.3(FANCC):c.408A>G (p.Gln136=)
|
rs1800360
|
0.02397
|
NM_000297.4(PKD2):c.568G>A (p.Ala190Thr)
|
rs117078377
|
0.02396
|
NM_001009944.3(PKD1):c.10768C>T (p.Leu3590=)
|
rs116114803
|
0.02380
|
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr)
|
rs2020873
|
0.02345
|
NM_006231.4(POLE):c.3126G>A (p.Lys1042=)
|
rs5744856
|
0.02344
|
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser)
|
rs17217772
|
0.02317
|
NM_000535.7(PMS2):c.1488C>T (p.His496=)
|
rs1805320
|
0.02307
|
NM_000455.5(STK11):c.264C>A (p.Ile88=)
|
rs56354945
|
0.02303
|
NM_002253.4(KDR):c.1444T>C (p.Cys482Arg)
|
rs34231037
|
0.02299
|
NM_000136.3(FANCC):c.1345G>A (p.Val449Met)
|
rs1800367
|
0.02254
|
NM_000051.4(ATM):c.5497-8T>C
|
rs3092829
|
0.02183
|
NM_025077.4(TOE1):c.52+77G>A
|
rs3219466
|
0.02177
|
NM_080683.3(PTPN13):c.6614G>A (p.Arg2205Gln)
|
rs61750816
|
0.02176
|
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala)
|
rs2228007
|
0.02174
|
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln)
|
rs45532440
|
0.02171
|
NM_000051.4(ATM):c.4138C>T (p.His1380Tyr)
|
rs3092856
|
0.02156
|
NM_000465.4(BARD1):c.1933T>C (p.Cys645Arg)
|
rs2228456
|
0.02135
|
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)
|
rs3743930
|
0.02112
|
NM_024675.4(PALB2):c.629C>T (p.Pro210Leu)
|
rs57605939
|
0.02101
|
NM_002691.4(POLD1):c.2154+13_2154+14insA
|
rs3218767
|
0.02057
|
NM_004360.5(CDH1):c.1896C>T (p.His632=)
|
rs33969373
|
0.02054
|
NM_006231.4(POLE):c.4290+5C>T
|
rs5744936
|
0.02053
|
NM_006231.4(POLE):c.2340G>A (p.Ser780=)
|
rs5744822
|
0.02051
|
NM_002485.5(NBN):c.2082T>G (p.Pro694=)
|
rs7823648
|
0.02020
|
NM_000179.3(MSH6):c.2253T>C (p.Asn751=)
|
rs2020913
|
0.02003
|
NM_000251.3(MSH2):c.573C>T (p.Leu191=)
|
rs1800151
|
0.01972
|
NM_001365951.3(KIF1B):c.608+8dup
|
rs139613776
|
0.01962
|
NM_001365951.3(KIF1B):c.2115+6360G>T
|
rs41274458
|
0.01961
|
NM_001365951.3(KIF1B):c.2115+6753A>G
|
rs41274462
|
0.01960
|
NM_199420.4(POLQ):c.4141C>A (p.Pro1381Thr)
|
rs3218642
|
0.01943
|
NM_000297.4(PKD2):c.596-16C>T
|
rs62310565
|
0.01932
|
NM_007294.4(BRCA1):c.5075-53C>T
|
rs8176258
|
0.01914
|
NM_138694.4(PKHD1):c.5236+14A>G
|
rs12210725
|
0.01912
|
NM_001009944.3(PKD1):c.11961C>T (p.Ala3987=)
|
rs116236042
|
0.01894
|
NM_001040108.2(MLH3):c.4242+13C>G
|
rs77157930
|
0.01890
|
NM_000051.4(ATM):c.1541G>A (p.Gly514Asp)
|
rs2235000
|
0.01889
|
NM_002485.5(NBN):c.1914+9C>T
|
rs13312938
|
0.01874
|
NM_001009944.3(PKD1):c.7077G>C (p.Arg2359=)
|
rs4018162
|
0.01868
|
NM_006231.4(POLE):c.2320-13A>G
|
rs75329753
|
0.01853
|
NM_001171.6(ABCC6):c.662+12C>T
|
rs1555520951
|
0.01842
|
NM_138694.4(PKHD1):c.9577G>A (p.Val3193Ile)
|
rs35445653
|
0.01835
|
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met)
|
rs4987117
|
0.01834
|
NM_000130.4(F5):c.1601G>A (p.Arg534Gln)
|
rs6025
|
0.01762
|
NM_024675.4(PALB2):c.2993G>A (p.Gly998Glu)
|
rs45551636
|
0.01717
|
NM_000251.3(MSH2):c.965G>A (p.Gly322Asp)
|
rs4987188
|
0.01714
|
NM_002691.4(POLD1):c.1713C>T (p.Pro571=)
|
rs2230248
|
0.01698
|
NM_000038.6(APC):c.7504G>A (p.Gly2502Ser)
|
rs2229995
|
0.01693
|
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile)
|
rs1805324
|
0.01651
|
NM_004360.5(CDH1):c.2634C>T (p.Gly878=)
|
rs2229044
|
0.01638
|
NM_000546.6(TP53):c.993+12T>C
|
rs1800899
|
0.01614
|
NM_020937.4(FANCM):c.4799C>T (p.Thr1600Ile)
|
rs61746943
|
0.01614
|
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser)
|
rs11466023
|
0.01590
|
NM_002907.4(RECQL):c.1460A>C (p.Lys487Thr)
|
rs6501
|
0.01583
|
NM_007194.4(CHEK2):c.1542+11T>A
|
rs17881716
|
0.01583
|
NM_001009944.3(PKD1):c.9669G>A (p.Thr3223=)
|
rs144817614
|
0.01582
|
NM_000051.4(ATM):c.2193C>T (p.Tyr731=)
|
rs2229019
|
0.01543
|
NM_000051.4(ATM):c.1636C>G (p.Leu546Val)
|
rs2227924
|
0.01541
|
NM_001009944.3(PKD1):c.107C>A (p.Pro36His)
|
rs560049593
|
0.01538
|
NM_004329.3(BMPR1A):c.1140C>T (p.Asp380=)
|
rs35572415
|
0.01512
|
NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser)
|
rs45494092
|
0.01508
|
NM_199420.4(POLQ):c.7390G>A (p.Ala2464Thr)
|
rs41540016
|
0.01504
|
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu)
|
rs1800362
|
0.01494
|
NM_000520.6(HEXA):c.672+30T>G
|
rs117160567
|
0.01494
|
NM_001040108.2(MLH3):c.2533A>G (p.Ser845Gly)
|
rs28756992
|
0.01483
|
NM_000136.3(FANCC):c.843+4C>T
|
rs4647506
|
0.01468
|
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln)
|
rs11466024
|
0.01456
|
NM_000051.4(ATM):c.3161C>G (p.Pro1054Arg)
|
rs1800057
|
0.01452
|
NM_014915.3(ANKRD26):c.3384G>A (p.Lys1128=)
|
rs41299210
|
0.01449
|
NM_000465.4(BARD1):c.1670G>C (p.Cys557Ser)
|
rs28997576
|
0.01443
|
NM_000251.3(MSH2):c.1077-10T>C
|
rs17224360
|
0.01428
|
NM_006231.4(POLE):c.6418G>A (p.Glu2140Lys)
|
rs5745066
|
0.01416
|
NM_001009944.3(PKD1):c.6927C>T (p.Gly2309=)
|
rs189277711
|
0.01413
|
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr)
|
rs33935154
|
0.01412
|
NM_006231.4(POLE):c.5678+4C>T
|
rs5744973
|
0.01405
|
NM_000051.4(ATM):c.6095+15T>C
|
rs3212321
|
0.01395
|
NM_000051.4(ATM):c.2614C>T (p.Pro872Ser)
|
rs3218673
|
0.01393
|
NM_000051.4(ATM):c.2685A>G (p.Leu895=)
|
rs3218687
|
0.01393
|
NM_005612.5(REST):c.2443C>T (p.Pro815Ser)
|
rs114282228
|
0.01389
|
NM_000179.3(MSH6):c.1164C>T (p.His388=)
|
rs55708305
|
0.01384
|
NM_001009944.3(PKD1):c.2694A>C (p.Ala898=)
|
rs142357713
|
0.01372
|
NM_000179.3(MSH6):c.2272C>T (p.Leu758=)
|
rs56371757
|
0.01363
|
NM_138694.4(PKHD1):c.11174+11A>G
|
rs115072237
|
0.01349
|
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile)
|
rs1799967
|
0.01348
|
NM_018124.4(RFWD3):c.1082C>T (p.Ser361Phe)
|
rs77132945
|
0.01337
|
NM_000237.3(LPL):c.953A>G (p.Asn318Ser)
|
rs268
|
0.01327
|
NM_006231.4(POLE):c.91G>T (p.Ala31Ser)
|
rs34047482
|
0.01320
|
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)
|
rs28929474
|
0.01282
|
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe)
|
rs4987047
|
0.01281
|
NM_000546.6(TP53):c.639A>G (p.Arg213=)
|
rs1800372
|
0.01275
|
NM_001009944.3(PKD1):c.3424C>T (p.Arg1142Trp)
|
rs142202785
|
0.01272
|
NM_001009944.3(PKD1):c.3489C>T (p.Phe1163=)
|
rs139744826
|
0.01269
|
NM_005228.5(EGFR):c.1881-721G>A
|
rs17336988
|
0.01263
|
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly)
|
rs1799807
|
0.01259
|
NC_000016.10:g.31334673_31334675del
|
rs1567287487
|
0.01238
|
NM_001009944.3(PKD1):c.11682C>T (p.Ser3894=)
|
rs567482892
|
0.01235
|
NM_000051.4(ATM):c.3118A>G (p.Met1040Val)
|
rs3092857
|
0.01233
|
NM_001009944.3(PKD1):c.8679C>G (p.Ser2893=)
|
rs114143642
|
0.01226
|
NM_000059.4(BRCA2):c.8460A>C (p.Val2820=)
|
rs9590940
|
0.01220
|
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln)
|
rs4149584
|
0.01206
|
NM_001009944.3(PKD1):c.8123C>T (p.Thr2708Met)
|
rs147350387
|
0.01193
|
NM_058216.3(RAD51C):c.90G>A (p.Ala30=)
|
rs115414895
|
0.01193
|
NM_000038.6(APC):c.3732A>G (p.Gln1244=)
|
rs74380081
|
0.01174
|
NM_000038.6(APC):c.1695A>G (p.Glu565=)
|
rs77921116
|
0.01170
|
NM_000249.4(MLH1):c.474C>T (p.Asn158=)
|
rs4647256
|
0.01161
|
NM_001009944.3(PKD1):c.1539C>T (p.Pro513=)
|
rs550769703
|
0.01159
|
NM_000249.4(MLH1):c.1039-8T>A
|
rs193922367
|
0.01153
|
NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe)
|
rs1800058
|
0.01150
|
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys)
|
rs45562031
|
0.01150
|
NM_001009944.3(PKD1):c.8020C>T (p.Pro2674Ser)
|
rs144557371
|
0.01150
|
NM_001040108.2(MLH3):c.1258G>A (p.Val420Ile)
|
rs28756982
|
0.01142
|
NM_006231.4(POLE):c.2174-8G>A
|
rs117409343
|
0.01137
|
NM_000038.6(APC):c.7201C>T (p.Leu2401=)
|
rs2229994
|
0.01134
|
NM_005245.4(FAT1):c.10487T>C (p.Val3496Ala)
|
rs35216841
|
0.01126
|
NM_002386.4(MC1R):c.880G>C (p.Asp294His)
|
rs1805009
|
0.01121
|
NM_000251.3(MSH2):c.2766T>C (p.Phe922=)
|
rs55859129
|
0.01118
|
NM_000051.4(ATM):c.6572+12G>T
|
rs3218677
|
0.01112
|
NM_002691.4(POLD1):c.2862G>C (p.Thr954=)
|
rs3219440
|
0.01109
|
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn)
|
rs4986852
|
0.01109
|
NM_002878.4(RAD51D):c.698A>G (p.Glu233Gly)
|
rs28363284
|
0.01102
|
NM_001048174.2(MUTYH):c.1517G>A (p.Arg506Gln)
|
rs3219497
|
0.01092
|
NM_000051.4(ATM):c.735C>T (p.Val245=)
|
rs3218674
|
0.01085
|
NM_002691.4(POLD1):c.849G>T (p.Gln283His)
|
rs113282414
|
0.01085
|
NM_020937.4(FANCM):c.624A>G (p.Ile208Met)
|
rs45547534
|
0.01077
|
NM_005245.4(FAT1):c.13727C>T (p.Thr4576Met)
|
rs142057401
|
0.01074
|
NM_000380.4(XPA):c.754C>G (p.Leu252Val)
|
rs3176750
|
0.01065
|
NM_000535.7(PMS2):c.1557T>C (p.Tyr519=)
|
rs6972869
|
0.01065
|
NM_001009944.3(PKD1):c.11156+13G>A
|
rs142616270
|
0.01065
|
NM_000059.4(BRCA2):c.8487+19A>G
|
rs11571743
|
0.01055
|
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly)
|
rs2227945
|
0.01054
|
NM_001040108.2(MLH3):c.2896T>C (p.Ser966Pro)
|
rs17782839
|
0.01052
|
NM_138694.4(PKHD1):c.8606C>A (p.Thr2869Lys)
|
rs142522748
|
0.01047
|
NM_000410.4(HFE):c.193A>T (p.Ser65Cys)
|
rs1800730
|
0.01042
|
NM_005045.4(RELN):c.5284G>A (p.Val1762Ile)
|
rs79499902
|
0.01040
|
NM_005245.4(FAT1):c.11155G>A (p.Val3719Met)
|
rs35670235
|
0.01013
|
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser)
|
rs1805318
|
0.01006
|
NM_001048174.2(MUTYH):c.1460C>T (p.Ser487Phe)
|
rs140118273
|
0.00997
|
NM_000249.4(MLH1):c.588+11G>C
|
rs4647258
|
0.00993
|
NM_001009944.3(PKD1):c.5051C>T (p.Ser1684Leu)
|
rs139520275
|
0.00989
|
NM_000297.4(PKD2):c.1359A>G (p.Pro453=)
|
rs17013754
|
0.00985
|
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg)
|
rs4986860
|
0.00984
|
NM_001009944.3(PKD1):c.4302C>T (p.Ile1434=)
|
rs78509585
|
0.00982
|
NM_000506.5(F2):c.*97G>A
|
rs1799963
|
0.00979
|
NM_002691.4(POLD1):c.1761C>T (p.Ile587=)
|
rs3218755
|
0.00976
|
NM_000546.6(TP53):c.108G>A (p.Pro36=)
|
rs1800370
|
0.00974
|
NM_004360.5(CDH1):c.933C>G (p.Leu311=)
|
rs35539711
|
0.00974
|
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)
|
rs35887622
|
0.00966
|
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu)
|
rs56082113
|
0.00964
|
NM_001009944.3(PKD1):c.7863+13T>C
|
rs115024665
|
0.00963
|
NM_002485.5(NBN):c.797C>T (p.Pro266Leu)
|
rs769420
|
0.00955
|
NM_005245.4(FAT1):c.12653A>G (p.Asp4218Gly)
|
rs72716244
|
0.00950
|
NM_000791.4(DHFR):c.-416C>G
|
rs2001675
|
0.00949
|
NM_000123.4(ERCC5):c.2636A>G (p.Asn879Ser)
|
rs4150342
|
0.00934
|
NM_004360.5(CDH1):c.-71C>G
|
rs34033771
|
0.00927
|
NM_001009944.3(PKD1):c.3935G>A (p.Arg1312Gln)
|
rs142129358
|
0.00924
|
NM_015559.3(SETBP1):c.4129G>C (p.Val1377Leu)
|
rs77518617
|
0.00922
|
NM_024675.4(PALB2):c.925A>G (p.Ile309Val)
|
rs3809683
|
0.00919
|
NM_000038.6(APC):c.2608C>T (p.Pro870Ser)
|
rs33974176
|
0.00917
|
NM_138694.4(PKHD1):c.888A>T (p.Pro296=)
|
rs76012218
|
0.00916
|
NM_000249.4(MLH1):c.1959G>T (p.Leu653=)
|
rs1800146
|
0.00913
|
NM_001009944.3(PKD1):c.1323G>A (p.Gly441=)
|
rs145776888
|
0.00910
|
NM_005245.4(FAT1):c.10757T>C (p.Met3586Thr)
|
rs115705222
|
0.00904
|
NM_001009944.3(PKD1):c.7275C>T (p.Gly2425=)
|
rs115772084
|
0.00901
|
NM_002124.4(HLA-DRB1):c.490G>A (p.Gly164Ser)
|
rs757966595
|
0.00901
|
NM_006231.4(POLE):c.5804G>A (p.Cys1935Tyr)
|
rs5744991
|
0.00898
|
NM_001009944.3(PKD1):c.8037A>G (p.Val2679=)
|
rs139752541
|
0.00890
|
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys)
|
rs41273726
|
0.00885
|
NM_000179.3(MSH6):c.3306T>A (p.Thr1102=)
|
rs2020910
|
0.00869
|
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr)
|
rs11571707
|
0.00868
|
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu)
|
rs1800056
|
0.00861
|
NM_000535.7(PMS2):c.52A>G (p.Ile18Val)
|
rs63750123
|
0.00861
|
NM_005228.5(EGFR):c.1509C>T (p.Gly503=)
|
rs17336800
|
0.00859
|
NM_000059.4(BRCA2):c.7806-40A>G
|
rs9590939
|
0.00858
|
NM_001510.4(GRID2):c.1203T>C (p.Leu401=)
|
rs80091080
|
0.00850
|
NM_000546.6(TP53):c.97-6C>T
|
rs35117667
|
0.00847
|
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn)
|
rs1805128
|
0.00841
|
NM_002485.5(NBN):c.2146A>G (p.Asn716Asp)
|
rs72563785
|
0.00830
|
NM_005245.4(FAT1):c.7700G>A (p.Arg2567His)
|
rs116784674
|
0.00826
|
NM_000249.4(MLH1):c.637G>A (p.Val213Met)
|
rs2308317
|
0.00818
|
NM_000136.3(FANCC):c.1330-3C>T
|
rs4647542
|
0.00811
|
NM_001009944.3(PKD1):c.6598C>T (p.Arg2200Cys)
|
rs140869992
|
0.00811
|
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr)
|
rs11571769
|
0.00809
|
NM_004900.5(APOBEC3B):c.262A>C (p.Ile88Leu)
|
rs151303359
|
0.00805
|
NM_006231.4(POLE):c.1007A>G (p.Asn336Ser)
|
rs5744760
|
0.00805
|
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser)
|
rs17107315
|
0.00797
|
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=)
|
rs36060526
|
0.00793
|
NM_000059.4(BRCA2):c.7017G>C (p.Lys2339Asn)
|
rs45574331
|
0.00792
|
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile)
|
rs11571831
|
0.00792
|
NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=)
|
rs34351119
|
0.00791
|
NM_002439.5(MSH3):c.1567G>A (p.Glu523Lys)
|
rs34058399
|
0.00789
|
NM_000465.4(BARD1):c.609A>C (p.Gly203=)
|
rs28997574
|
0.00787
|
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile)
|
rs63750055
|
0.00784
|
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro)
|
rs4986761
|
0.00782
|
NM_014915.3(ANKRD26):c.3655G>A (p.Val1219Ile)
|
rs146819984
|
0.00781
|
NM_001009944.3(PKD1):c.1710C>T (p.His570=)
|
rs367983387
|
0.00775
|
NM_138694.4(PKHD1):c.7921A>G (p.Thr2641Ala)
|
rs7766366
|
0.00773
|
NM_001040108.2(MLH3):c.1870G>C (p.Glu624Gln)
|
rs28756986
|
0.00772
|
NM_000059.4(BRCA2):c.316+108A>G
|
rs115376548
|
0.00769
|
NM_000059.4(BRCA2):c.1788T>C (p.Asp596=)
|
rs11571642
|
0.00768
|
NM_080683.3(PTPN13):c.865G>A (p.Gly289Ser)
|
rs61730646
|
0.00768
|
NM_002485.5(NBN):c.37+5G>A
|
rs116735828
|
0.00767
|
NM_000051.4(ATM):c.544G>C (p.Val182Leu)
|
rs3218707
|
0.00757
|
NM_000465.4(BARD1):c.2212A>G (p.Ile738Val)
|
rs61754118
|
0.00745
|
NM_000215.4(JAK3):c.2164G>A (p.Val722Ile)
|
rs3213409
|
0.00743
|
NM_000059.4(BRCA2):c.8632+132dup
|
rs201392123
|
0.00742
|
NM_000534.5(PMS1):c.605G>A (p.Arg202Lys)
|
rs2066459
|
0.00741
|
NM_000465.4(BARD1):c.1972C>T (p.Arg658Cys)
|
rs3738888
|
0.00736
|
NM_001009944.3(PKD1):c.9270C>T (p.Val3090=)
|
rs149056734
|
0.00736
|
NM_001083603.1(PTCH1):c.131A>G (p.Glu44Gly)
|
rs202111971
|
0.00732
|
NM_022168.4(IFIH1):c.1641+1G>C
|
rs35337543
|
0.00728
|
NM_138694.4(PKHD1):c.10515C>A (p.Ser3505Arg)
|
rs139014478
|
0.00721
|
NM_001009944.3(PKD1):c.3513C>G (p.Thr1171=)
|
rs143784787
|
0.00720
|
NM_000051.4(ATM):c.146C>G (p.Ser49Cys)
|
rs1800054
|
0.00712
|
NM_002485.5(NBN):c.1489A>G (p.Thr497Ala)
|
rs3026268
|
0.00711
|
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=)
|
rs28897679
|
0.00707
|
NM_002691.4(POLD1):c.88C>T (p.Arg30Trp)
|
rs3218772
|
0.00706
|
NM_000038.6(APC):c.4326T>A (p.Pro1442=)
|
rs67622085
|
0.00705
|
NM_001009944.3(PKD1):c.10529C>T (p.Thr3510Met)
|
rs45478794
|
0.00702
|
NM_138694.4(PKHD1):c.8521A>G (p.Met2841Val)
|
rs113562492
|
0.00702
|
NM_003738.5(PTCH2):c.1073G>A (p.Arg358His)
|
rs139624405
|
0.00701
|
NM_000059.4(BRCA2):c.517-19C>T
|
rs11571623
|
0.00693
|
NM_007294.4(BRCA1):c.548-80T>C
|
rs8176143
|
0.00692
|
NM_000297.4(PKD2):c.444C>T (p.Gly148=)
|
rs181704860
|
0.00680
|
NM_006231.4(POLE):c.1470C>T (p.Asp490=)
|
rs5744777
|
0.00679
|
NM_000038.6(APC):c.5265G>A (p.Ala1755=)
|
rs34506289
|
0.00675
|
NM_002386.4(MC1R):c.464T>C (p.Ile155Thr)
|
rs1110400
|
0.00675
|
NM_002691.4(POLD1):c.2546G>A (p.Arg849His)
|
rs3218775
|
0.00670
|
NM_001009944.3(PKD1):c.7066-5G>A
|
rs372745980
|
0.00669
|
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser)
|
rs45439799
|
0.00663
|
NM_000051.4(ATM):c.6995T>C (p.Leu2332Pro)
|
rs4988111
|
0.00660
|
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn)
|
rs4987048
|
0.00655
|
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala)
|
rs28363317
|
0.00653
|
NM_000051.4(ATM):c.6235G>A (p.Val2079Ile)
|
rs1800060
|
0.00649
|
NM_001009944.3(PKD1):c.8440G>A (p.Gly2814Arg)
|
rs149151043
|
0.00642
|
NM_001009944.3(PKD1):c.4071G>T (p.Leu1357=)
|
rs145737766
|
0.00637
|
NM_000051.4(ATM):c.3383A>G (p.Gln1128Arg)
|
rs2229020
|
0.00636
|
NM_000455.5(STK11):c.369G>A (p.Gln123=)
|
rs140112347
|
0.00636
|
NM_001130009.3(GEN1):c.2652A>C (p.Glu884Asp)
|
rs141534568
|
0.00629
|
NM_005245.4(FAT1):c.5384G>A (p.Arg1795Gln)
|
rs56790426
|
0.00622
|
NM_001304388.2(GOLGA6L2):c.1702T>G (p.Ser568Ala)
|
rs200451908
|
0.00621
|
NM_001009944.3(PKD1):c.8964G>A (p.Ala2988=)
|
rs76184385
|
0.00619
|
NM_014679.5(CEP57):c.333G>C (p.Gln111His)
|
rs117321017
|
0.00613
|
NM_139276.3(STAT3):c.1381G>C (p.Val461Leu)
|
rs149214040
|
0.00612
|
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr)
|
rs28897727
|
0.00609
|
NM_000051.4(ATM):c.5793T>C (p.Ala1931=)
|
rs3092910
|
0.00608
|
NM_001372073.1(PDGFRL):c.408A>G (p.Ala136=)
|
rs34445293
|
0.00606
|
NM_006231.4(POLE):c.776G>A (p.Arg259His)
|
rs61732929
|
0.00604
|
NM_000051.4(ATM):c.4042T>C (p.Leu1348=)
|
rs56355831
|
0.00599
|
NM_000059.4(BRCA2):c.9257-16T>C
|
rs11571818
|
0.00597
|
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter)
|
rs11571833
|
0.00597
|
NM_001048174.2(MUTYH):c.1347G>C (p.Thr449=)
|
rs74318065
|
0.00596
|
NM_001142800.2(EYS):c.7796A>G (p.His2599Arg)
|
rs74636274
|
0.00587
|
NM_000038.6(APC):c.1959G>A (p.Arg653=)
|
rs72541809
|
0.00583
|
NM_000249.4(MLH1):c.589-15C>T
|
rs55658850
|
0.00582
|
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln)
|
rs1801166
|
0.00570
|
NM_004544.4(NDUFA10):c.712G>A (p.Glu238Lys)
|
rs35462421
|
0.00570
|
NM_000051.4(ATM):c.186-7C>T
|
rs55674039
|
0.00568
|
NM_000179.3(MSH6):c.1186C>G (p.Leu396Val)
|
rs2020908
|
0.00565
|
NM_000297.4(PKD2):c.2134T>C (p.Leu712=)
|
rs73841280
|
0.00563
|
NM_000535.7(PMS2):c.1569C>G (p.Ser523=)
|
rs141458772
|
0.00560
|
NM_000296.4(PKD1):c.11534+3_11534+5dup
|
rs201204878
|
0.00559
|
NM_001009944.3(PKD1):c.8161+8G>A
|
rs199569003
|
0.00559
|
NM_199420.4(POLQ):c.4262_4268del (p.Ile1421fs)
|
rs546221341
|
0.00558
|
NM_002386.4(MC1R):c.252C>A (p.Asp84Glu)
|
rs1805006
|
0.00553
|
NM_001009944.3(PKD1):c.4051C>T (p.Arg1351Trp)
|
rs55840049
|
0.00551
|
NM_001040108.2(MLH3):c.3217G>A (p.Asp1073Asn)
|
rs28756993
|
0.00551
|
NM_006231.4(POLE):c.6494G>A (p.Arg2165His)
|
rs5745068
|
0.00550
|
NM_002273.4(KRT8):c.184G>T (p.Gly62Cys)
|
rs11554495
|
0.00545
|
NM_212482.4(FN1):c.4486C>T (p.Arg1496Trp)
|
rs139078629
|
0.00542
|
NM_001048174.2(MUTYH):c.421-4A>G
|
rs201678305
|
0.00541
|
NM_002485.5(NBN):c.37+11A>G
|
rs115032431
|
0.00540
|
NM_000059.4(BRCA2):c.-11C>T
|
rs76874770
|
0.00539
|
NM_005359.6(SMAD4):c.*11C>T
|
rs11663402
|
0.00538
|
NM_021930.6(RINT1):c.2276C>T (p.Pro759Leu)
|
rs34310648
|
0.00537
|
NM_001009944.3(PKD1):c.8187G>A (p.Ser2729=)
|
rs28674911
|
0.00534
|
NM_000275.3(OCA2):c.79G>A (p.Gly27Arg)
|
rs61738394
|
0.00532
|
NM_024675.4(PALB2):c.53A>G (p.Lys18Arg)
|
rs138789658
|
0.00530
|
NM_198578.4(LRRK2):c.4541G>A (p.Arg1514Gln)
|
rs35507033
|
0.00526
|
NM_001365951.3(KIF1B):c.2115+6956A>G
|
rs148481786
|
0.00525
|
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser)
|
rs147099630
|
0.00521
|
NM_001009944.3(PKD1):c.3277C>T (p.His1093Tyr)
|
rs146352591
|
0.00519
|
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu)
|
rs72553883
|
0.00518
|
NM_000051.4(ATM):c.6088A>G (p.Ile2030Val)
|
rs145847315
|
0.00517
|
NM_007294.4(BRCA1):c.5406+8T>C
|
rs55946644
|
0.00514
|
NM_006231.4(POLE):c.6763A>T (p.Ile2255Phe)
|
rs73155056
|
0.00513
|
NM_001009944.3(PKD1):c.5682C>T (p.Ala1894=)
|
rs144634185
|
0.00512
|
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe)
|
rs1800361
|
0.00511
|
NM_000038.6(APC):c.1958+8T>C
|
rs62626346
|
0.00510
|
NM_007294.4(BRCA1):c.-192T>C
|
rs113323025
|
0.00510
|
NM_001009944.3(PKD1):c.4546G>A (p.Ala1516Thr)
|
rs148164067
|
0.00508
|
NM_001009944.3(PKD1):c.8439C>T (p.Ser2813=)
|
rs117856830
|
0.00507
|
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)
|
rs104895094
|
0.00506
|
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile)
|
rs146722795
|
0.00506
|
NM_001009944.3(PKD1):c.-67C>T
|
rs1016465177
|
0.00503
|
NM_001987.5(ETV6):c.602T>C (p.Leu201Pro)
|
rs145477191
|
0.00501
|
NM_004423.4(DVL3):c.291G>A (p.Ser97=)
|
rs150288196
|
0.00499
|
NM_001009944.3(PKD1):c.214C>T (p.Leu72=)
|
rs972113626
|
0.00498
|
NM_000038.6(APC):c.5250C>G (p.Val1750=)
|
rs2229997
|
0.00497
|
NM_000251.3(MSH2):c.984C>T (p.Ala328=)
|
rs4987189
|
0.00495
|
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys)
|
rs144979397
|
0.00495
|
NM_001009944.3(PKD1):c.6545A>G (p.Gln2182Arg)
|
rs147685291
|
0.00492
|
NM_005245.4(FAT1):c.883G>A (p.Val295Met)
|
rs61733573
|
0.00490
|
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=)
|
rs28897734
|
0.00488
|
NM_001009944.3(PKD1):c.4264G>A (p.Ala1422Thr)
|
rs140980374
|
0.00485
|
NM_138694.4(PKHD1):c.6777C>T (p.Phe2259=)
|
rs140065359
|
0.00482
|
NM_000297.4(PKD2):c.2398A>C (p.Met800Leu)
|
rs2234917
|
0.00481
|
NM_002386.4(MC1R):c.425G>A (p.Arg142His)
|
rs11547464
|
0.00480
|
NM_032043.3(BRIP1):c.2236A>G (p.Ile746Val)
|
rs111536363
|
0.00480
|
NM_001304388.2(GOLGA6L2):c.2014A>G (p.Arg672Gly)
|
rs879216254
|
0.00478
|
NM_001312909.2(FAM111A):c.782_791dup (p.Phe264fs)
|
rs533676902
|
0.00478
|
NM_001171.6(ABCC6):c.3883-24G>A
|
rs59513011
|
0.00475
|
NM_000251.3(MSH2):c.1666T>C (p.Leu556=)
|
rs61756466
|
0.00471
|
NM_005245.4(FAT1):c.13042C>A (p.Leu4348Ile)
|
rs80120846
|
0.00467
|
NM_004462.5(FDFT1):c.100-232G>C
|
rs181750463
|
0.00465
|
NM_007294.4(BRCA1):c.5468-10C>A
|
rs8176316
|
0.00464
|
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly)
|
rs72653762
|
0.00459
|
NM_002878.4(RAD51D):c.695G>A (p.Arg232Gln)
|
rs28363283
|
0.00457
|
NM_000465.4(BARD1):c.1738G>A (p.Glu580Lys)
|
rs35306212
|
0.00455
|
NM_005612.5(REST):c.2206C>T (p.Pro736Ser)
|
rs61754065
|
0.00455
|
NM_001298.3(CNGA3):c.143C>T (p.Pro48Leu)
|
rs62156348
|
0.00451
|
NM_153717.3(EVC):c.469C>G (p.Pro157Ala)
|
rs146729456
|
0.00451
|
NM_024675.4(PALB2):c.2794G>A (p.Val932Met)
|
rs45624036
|
0.00449
|
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala)
|
rs2020912
|
0.00448
|
NM_001009944.3(PKD1):c.12765C>T (p.Pro4255=)
|
rs62038811
|
0.00448
|
NM_006231.4(POLE):c.6817A>T (p.Thr2273Ser)
|
rs73481453
|
0.00444
|
NM_031372.4(HNRNPDL):c.125T>C (p.Leu42Pro)
|
rs61729823
|
0.00443
|
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val)
|
rs1801673
|
0.00441
|
NM_000059.4(BRCA2):c.7008-62A>G
|
rs76584943
|
0.00439
|
NM_006000.3(TUBA4A):c.909A>G (p.Val303=)
|
rs141922502
|
0.00438
|
NM_014915.3(ANKRD26):c.4445T>C (p.Ile1482Thr)
|
rs80097260
|
0.00437
|
NM_199420.4(POLQ):c.2891A>C (p.Glu964Ala)
|
rs3218633
|
0.00436
|
NM_000179.3(MSH6):c.457+13A>G
|
rs1800933
|
0.00434
|
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)
|
rs17879961
|
0.00434
|
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser)
|
rs2227922
|
0.00431
|
NM_004168.4(SDHA):c.969C>T (p.Gly323=)
|
rs142849100
|
0.00430
|
NM_000179.3(MSH6):c.1345C>T (p.Leu449=)
|
rs3136333
|
0.00429
|
NM_000051.4(ATM):c.6437G>C (p.Ser2146Thr)
|
rs56815840
|
0.00424
|
NM_145309.6(LRRC51):c.*1201A>C
|
rs188080974
|
0.00424
|
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly)
|
rs28897689
|
0.00419
|
NC_000002.12:g.31171210T>C
|
rs149432880
|
0.00416
|
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile)
|
rs8177988
|
0.00414
|
NM_001903.5(CTNNA1):c.618G>C (p.Gln206His)
|
rs150893072
|
0.00414
|
NM_001009944.3(PKD1):c.11262G>C (p.Leu3754=)
|
rs139399947
|
0.00411
|
NM_001009944.3(PKD1):c.8109C>T (p.Thr2703=)
|
rs149879790
|
0.00411
|
NM_007027.4(TOPBP1):c.3371+9C>T
|
rs138529143
|
0.00411
|
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr)
|
rs45503297
|
0.00407
|
NM_000224.3(KRT18):c.689G>C (p.Ser230Thr)
|
rs58472472
|
0.00405
|
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)
|
rs34557412
|
0.00403
|
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu)
|
rs35001569
|
0.00399
|
NM_002878.4(RAD51D):c.873C>T (p.Arg291=)
|
rs140848654
|
0.00399
|
NM_000249.4(MLH1):c.307-29C>A
|
rs139620056
|
0.00398
|
NM_000251.3(MSH2):c.1662-9G>A
|
rs17218356
|
0.00398
|
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg)
|
rs55953736
|
0.00396
|
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys)
|
rs16024
|
0.00390
|
NM_001009944.3(PKD1):c.5611G>A (p.Ala1871Thr)
|
rs144137200
|
0.00389
|
NM_005245.4(FAT1):c.3446T>C (p.Met1149Thr)
|
rs77280820
|
0.00389
|
NM_000051.4(ATM):c.1176C>G (p.Gly392=)
|
rs1800727
|
0.00388
|
NM_001009944.3(PKD1):c.9957C>T (p.Ser3319=)
|
rs141101590
|
0.00388
|
NM_003227.4(TFR2):c.1127C>A (p.Ala376Asp)
|
rs41303495
|
0.00384
|
NM_001009944.3(PKD1):c.10234C>T (p.Pro3412Ser)
|
rs149605181
|
0.00383
|
NM_001098.3(ACO2):c.220C>G (p.Leu74Val)
|
rs141772938
|
0.00383
|
NM_207361.6(FREM2):c.8902G>A (p.Val2968Ile)
|
rs116099212
|
0.00379
|
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln)
|
rs41276738
|
0.00377
|
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)
|
rs104894313
|
0.00375
|
NM_005245.4(FAT1):c.3503C>T (p.Ser1168Leu)
|
rs200633985
|
0.00375
|
NM_080683.3(PTPN13):c.3822G>T (p.Trp1274Cys)
|
rs201633051
|
0.00375
|
NM_000123.4(ERCC5):c.2877A>C (p.Arg959Ser)
|
rs41281674
|
0.00373
|
NM_000535.7(PMS2):c.1609G>A (p.Glu537Lys)
|
rs115052399
|
0.00370
|
NM_001009944.3(PKD1):c.4263C>T (p.Ala1421=)
|
rs149938033
|
0.00366
|
NM_001009944.3(PKD1):c.4845C>T (p.Asn1615=)
|
rs141557400
|
0.00364
|
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)
|
rs77931234
|
0.00363
|
NM_000051.4(ATM):c.5497-15G>C
|
rs3092828
|
0.00363
|
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys)
|
rs4988345
|
0.00363
|
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg)
|
rs1800368
|
0.00361
|
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)
|
rs112029032
|
0.00361
|
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys)
|
rs72541816
|
0.00358
|
NM_001009944.3(PKD1):c.5373C>T (p.Asn1791=)
|
rs143017410
|
0.00357
|
NM_000059.4(BRCA2):c.2960A>T (p.Asn987Ile)
|
rs2227944
|
0.00356
|
NM_000059.4(BRCA2):c.2786T>C (p.Leu929Ser)
|
rs2227943
|
0.00355
|
NM_001009944.3(PKD1):c.276G>A (p.Ala92=)
|
rs374518168
|
0.00354
|
NM_002907.4(RECQL):c.1483G>C (p.Asp495His)
|
rs6499
|
0.00353
|
NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu)
|
rs199476099
|
0.00351
|
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile)
|
rs121918166
|
0.00350
|
NM_001009944.3(PKD1):c.5847C>T (p.Ser1949=)
|
rs80111665
|
0.00350
|
NM_001009944.3(PKD1):c.11346C>T (p.Asp3782=)
|
rs145955373
|
0.00349
|
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr)
|
rs61758784
|
0.00349
|
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu)
|
rs59912467
|
0.00348
|
NM_000059.4(BRCA2):c.6412G>T (p.Val2138Phe)
|
rs11571659
|
0.00346
|
NM_004900.5(APOBEC3B):c.1026G>C (p.Glu342Asp)
|
rs6001357
|
0.00346
|
NM_006231.4(POLE):c.5135C>T (p.Ala1712Val)
|
rs5744950
|
0.00346
|
NM_000059.4(BRCA2):c.6842-73T>A
|
rs11571673
|
0.00344
|
NM_006231.4(POLE):c.2468+10C>T
|
rs5744823
|
0.00342
|
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)
|
rs36053993
|
0.00341
|
NM_001184.4(ATR):c.2290A>G (p.Lys764Glu)
|
rs77208665
|
0.00340
|
NM_021870.3(FGG):c.571G>A (p.Gly191Arg)
|
rs6063
|
0.00339
|
NM_000303.3(PMM2):c.422G>A (p.Arg141His)
|
rs28936415
|
0.00338
|
NM_000059.4(BRCA2):c.1275A>G (p.Glu425=)
|
rs34355306
|
0.00335
|
NM_001009944.3(PKD1):c.12826C>T (p.Arg4276Trp)
|
rs114251396
|
0.00335
|
NM_153700.2(STRC):c.3540T>G (p.Leu1180=)
|
rs199524735
|
0.00335
|
NM_000338.3(SLC12A1):c.347G>A (p.Arg116His)
|
rs34819316
|
0.00334
|
NM_198407.2(GHSR):c.531C>A (p.Pro177=)
|
rs4988509
|
0.00334
|
NM_001009944.3(PKD1):c.9111G>A (p.Ser3037=)
|
rs57870377
|
0.00331
|
NM_004977.3(KCNC3):c.1771A>G (p.Ser591Gly)
|
rs549394447
|
0.00331
|
NM_001009944.3(PKD1):c.11976C>G (p.Ala3992=)
|
rs112387277
|
0.00329
|
NM_001009944.3(PKD1):c.10304G>A (p.Arg3435Gln)
|
rs140189010
|
0.00328
|
NM_006231.4(POLE):c.4259C>T (p.Ala1420Val)
|
rs41561818
|
0.00325
|
NM_000038.6(APC):c.4420G>A (p.Ala1474Thr)
|
rs139387758
|
0.00324
|
NM_001009944.3(PKD1):c.4018C>T (p.Arg1340Trp)
|
rs143690392
|
0.00324
|
NM_001009944.3(PKD1):c.6363C>T (p.Arg2121=)
|
rs138648495
|
0.00324
|
NM_058216.3(RAD51C):c.186A>G (p.Gln62=)
|
rs28363303
|
0.00322
|
NM_000029.4(AGT):c.410C>T (p.Thr137Met)
|
rs34829218
|
0.00316
|
NM_000243.3(MEFV):c.910G>A (p.Gly304Arg)
|
rs75977701
|
0.00316
|
NM_001009944.3(PKD1):c.3296-15G>A
|
rs201704201
|
0.00316
|
NM_000251.3(MSH2):c.339G>A (p.Lys113=)
|
rs35898375
|
0.00313
|
NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln)
|
rs147654263
|
0.00312
|
NM_001009944.3(PKD1):c.12436G>A (p.Val4146Ile)
|
rs148478410
|
0.00312
|
NM_006231.4(POLE):c.779G>A (p.Arg260Gln)
|
rs5744752
|
0.00312
|
NM_024675.4(PALB2):c.1572A>G (p.Ser524=)
|
rs45472400
|
0.00312
|
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr)
|
rs35187787
|
0.00311
|
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu)
|
rs114973968
|
0.00309
|
NM_001201543.2(FAM161A):c.1153C>G (p.Gln385Glu)
|
rs139266382
|
0.00309
|
NM_024675.4(PALB2):c.1419A>C (p.Pro473=)
|
rs62625275
|
0.00309
|
NM_000038.6(APC):c.3471G>A (p.Glu1157=)
|
rs143927847
|
0.00308
|
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu)
|
rs41292677
|
0.00308
|
NM_001009944.3(PKD1):c.11337C>G (p.Ser3779Arg)
|
rs116835405
|
0.00308
|
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr)
|
rs41293485
|
0.00307
|
NM_002253.4(KDR):c.2066C>T (p.Thr689Met)
|
rs34038364
|
0.00307
|
NM_006416.5(SLC35A1):c.133A>G (p.Thr45Ala)
|
rs145006535
|
0.00306
|
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile)
|
rs4988346
|
0.00305
|
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr)
|
rs55688530
|
0.00301
|
NM_017950.4(CCDC40):c.2017G>A (p.Asp673Asn)
|
rs115850223
|
0.00301
|
NM_001166108.2(PALLD):c.1273A>T (p.Thr425Ser)
|
rs140454899
|
0.00299
|
NM_025077.4(TOE1):c.-45G>A
|
rs2275602
|
0.00299
|
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val)
|
rs55907433
|
0.00297
|
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=)
|
rs28897724
|
0.00295
|
NM_000133.4(F9):c.967G>A (p.Glu323Lys)
|
rs150351950
|
0.00294
|
NM_006231.4(POLE):c.16G>C (p.Gly6Arg)
|
rs202220778
|
0.00293
|
NM_198578.4(LRRK2):c.5163A>G (p.Ser1721=)
|
rs79909111
|
0.00293
|
NM_000059.4(BRCA2):c.4681C>A (p.His1561Asn)
|
rs2219594
|
0.00292
|
NM_014252.4(SLC25A15):c.182G>A (p.Arg61His)
|
rs34615430
|
0.00292
|
NM_016953.4(PDE11A):c.919C>T (p.Arg307Ter)
|
rs76308115
|
0.00292
|
NM_001982.4(ERBB3):c.3529C>A (p.Leu1177Ile)
|
rs55699040
|
0.00291
|
NM_000059.4(BRCA2):c.7805+6C>G
|
rs81002819
|
0.00290
|
NM_001009944.3(PKD1):c.6488G>A (p.Arg2163Gln)
|
rs145217118
|
0.00290
|
NM_002691.4(POLD1):c.1977C>T (p.Ile659=)
|
rs45605236
|
0.00290
|
NM_000203.5(IDUA):c.346G>A (p.Gly116Arg)
|
rs148946496
|
0.00289
|
NM_001136193.2(FASTKD2):c.149A>G (p.Lys50Arg)
|
rs141447598
|
0.00289
|
NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys)
|
rs11571657
|
0.00288
|
NM_000051.4(ATM):c.3993+5G>T
|
rs3092842
|
0.00287
|
NM_000341.4(SLC3A1):c.566C>T (p.Thr189Met)
|
rs140317484
|
0.00287
|
NM_001166108.2(PALLD):c.764G>A (p.Arg255His)
|
rs146018183
|
0.00287
|
NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser)
|
rs45568339
|
0.00287
|
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile)
|
rs148932323
|
0.00287
|
NM_000038.6(APC):c.3165A>T (p.Ile1055=)
|
rs61734287
|
0.00286
|
NM_138694.4(PKHD1):c.4920A>G (p.Val1640=)
|
rs142465959
|
0.00286
|
NM_000301.5(PLG):c.112A>G (p.Lys38Glu)
|
rs73015965
|
0.00282
|
NM_016335.6(PRODH):c.1322T>C (p.Leu441Pro)
|
rs2904551
|
0.00282
|
NM_000297.4(PKD2):c.2411G>A (p.Ser804Asn)
|
rs145343957
|
0.00280
|
NM_080916.3(DGUOK):c.4G>T (p.Ala2Ser)
|
rs147551003
|
0.00280
|
NM_002711.4(PPP1R3A):c.1985_1986del (p.Gln662fs)
|
rs527638422
|
0.00279
|
NM_000059.4(BRCA2):c.68-7T>A
|
rs81002830
|
0.00277
|
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln)
|
rs62646862
|
0.00276
|
NM_001009944.3(PKD1):c.2515C>T (p.Pro839Ser)
|
rs146651553
|
0.00276
|
NM_178857.6(RP1L1):c.4906G>A (p.Glu1636Lys)
|
rs80094376
|
0.00276
|
NM_000136.3(FANCC):c.584A>T (p.Asp195Val)
|
rs1800365
|
0.00275
|
NM_006019.4(TCIRG1):c.1249G>A (p.Ala417Thr)
|
rs140963213
|
0.00275
|
NM_000059.4(BRCA2):c.67+62T>G
|
rs11571574
|
0.00274
|
NM_000203.5(IDUA):c.246C>G (p.His82Gln)
|
rs148775298
|
0.00274
|
NM_005199.5(CHRNG):c.714G>T (p.Gln238His)
|
rs17838626
|
0.00274
|
NM_207361.6(FREM2):c.2128C>T (p.Arg710Cys)
|
rs41292753
|
0.00274
|
NM_000059.4(BRCA2):c.4241C>T (p.Thr1414Met)
|
rs70953664
|
0.00272
|
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys)
|
rs58241708
|
0.00272
|
NM_001009944.3(PKD1):c.4495C>T (p.Leu1499=)
|
rs142002333
|
0.00272
|
NM_000038.6(APC):c.4360A>G (p.Lys1454Glu)
|
rs111866410
|
0.00271
|
NM_032043.3(BRIP1):c.2097+7G>A
|
rs4988352
|
0.00271
|
NM_138694.4(PKHD1):c.6184C>T (p.Leu2062=)
|
rs116156469
|
0.00271
|
NM_138694.4(PKHD1):c.6211A>C (p.Asn2071His)
|
rs143832120
|
0.00271
|
NM_000107.3(DDB2):c.1228G>A (p.Ala410Thr)
|
rs143049891
|
0.00270
|
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp)
|
rs116100695
|
0.00270
|
NM_007194.4(CHEK2):c.592+50A>T
|
rs17881298
|
0.00270
|
NM_000298.6(PKLR):c.829G>A (p.Glu277Lys)
|
rs147689373
|
0.00269
|
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)
|
rs1800553
|
0.00269
|
NM_005359.6(SMAD4):c.455-6A>G
|
rs181178864
|
0.00269
|
NM_000038.6(APC):c.4893T>C (p.Ser1631=)
|
rs35634377
|
0.00268
|
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys)
|
rs1799954
|
0.00268
|
NM_005359.6(SMAD4):c.354G>A (p.Ala118=)
|
rs145988618
|
0.00268
|
NC_000023.11:g.153859456A>G
|
rs868935535
|
0.00267
|
NM_001009944.3(PKD1):c.8119G>A (p.Val2707Met)
|
rs139507058
|
0.00267
|
NM_002485.5(NBN):c.381T>C (p.Ala127=)
|
rs61754795
|
0.00266
|
NM_020361.5(CPA6):c.1237C>T (p.Leu413Phe)
|
rs142597675
|
0.00266
|
NM_000051.4(ATM):c.2362A>C (p.Ser788Arg)
|
rs641252
|
0.00265
|
NM_000059.4(BRCA2):c.6220C>A (p.His2074Asn)
|
rs34309943
|
0.00264
|
NM_001384910.1(GUCA1A):c.205G>T (p.Gly69Cys)
|
rs146354667
|
0.00263
|
NM_003105.6(SORL1):c.5448T>C (p.Tyr1816=)
|
rs150315143
|
0.00262
|
NM_005199.5(CHRNG):c.125G>A (p.Arg42Gln)
|
rs148468628
|
0.00262
|
NM_004360.5(CDH1):c.1680G>C (p.Thr560=)
|
rs35741240
|
0.00261
|
NM_005245.4(FAT1):c.8535G>A (p.Met2845Ile)
|
rs138948513
|
0.00261
|
NM_005562.3(LAMC2):c.493C>T (p.Arg165Cys)
|
rs142335339
|
0.00261
|
NM_138694.4(PKHD1):c.9788T>C (p.Val3263Ala)
|
rs146519878
|
0.00261
|
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His)
|
rs35029074
|
0.00260
|
NM_001001674.2(OR4F15):c.429C>G (p.Tyr143Ter)
|
rs141388760
|
0.00260
|
NM_182914.3(SYNE2):c.20410G>A (p.Asp6804Asn)
|
rs150644129
|
0.00259
|
NM_004329.3(BMPR1A):c.618A>G (p.Leu206=)
|
rs55992440
|
0.00257
|
NM_000542.5(SFTPB):c.403G>A (p.Gly135Ser)
|
rs35373464
|
0.00256
|
NM_004360.5(CDH1):c.324A>G (p.Arg108=)
|
rs116542018
|
0.00255
|
NM_033305.3(VPS13A):c.775A>G (p.Asn259Asp)
|
rs41307461
|
0.00255
|
NM_005529.7(HSPG2):c.12982G>A (p.Ala4328Thr)
|
rs114015043
|
0.00254
|
NM_000179.3(MSH6):c.3911G>A (p.Arg1304Lys)
|
rs34625968
|
0.00253
|
NM_002691.4(POLD1):c.433G>A (p.Ala145Thr)
|
rs137953986
|
0.00253
|
NM_005245.4(FAT1):c.4841C>T (p.Pro1614Leu)
|
rs183343406
|
0.00253
|
NM_007294.4(BRCA1):c.4987-20A>G
|
rs80358035
|
0.00252
|
NM_022370.4(ROBO3):c.1838C>T (p.Thr613Ile)
|
rs200202857
|
0.00252
|
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser)
|
rs143638171
|
0.00250
|
NM_000384.3(APOB):c.13369G>A (p.Asp4457Asn)
|
rs183812948
|
0.00250
|
NM_004900.5(APOBEC3B):c.133C>T (p.Arg45Cys)
|
rs143126732
|
0.00250
|
NM_001256071.3(RNF213):c.13604T>C (p.Ile4535Thr)
|
rs75161557
|
0.00249
|
NM_001349253.2(SCN11A):c.601A>T (p.Ile201Phe)
|
rs139915721
|
0.00249
|
NM_003126.4(SPTA1):c.3230G>A (p.Arg1077His)
|
rs199612744
|
0.00249
|
NM_032273.4(TMEM126A):c.314G>A (p.Arg105Gln)
|
rs146573578
|
0.00247
|
NM_001374385.1(ATP8B1):c.208G>A (p.Asp70Asn)
|
rs34719006
|
0.00245
|
NM_000255.4(MMUT):c.205A>G (p.Ile69Val)
|
rs115923556
|
0.00243
|
NM_000065.5(C6):c.2381+2T>C
|
rs76202909
|
0.00242
|
NM_000096.4(CP):c.1430C>T (p.Pro477Leu)
|
rs35331711
|
0.00242
|
NM_000059.4(BRCA2):c.8488-108C>T
|
rs11571745
|
0.00241
|
NM_006231.4(POLE):c.4184A>G (p.Tyr1395Cys)
|
rs5744933
|
0.00240
|
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile)
|
rs1800744
|
0.00240
|
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile)
|
rs28897749
|
0.00239
|
NM_001009944.3(PKD1):c.3006G>C (p.Val1002=)
|
rs143013095
|
0.00239
|
NM_000179.3(MSH6):c.3439-16C>T
|
rs192614006
|
0.00237
|
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys)
|
rs1800386
|
0.00237
|
NM_001009944.3(PKD1):c.9795C>T (p.Ser3265=)
|
rs150949575
|
0.00237
|
NM_000059.4(BRCA2):c.8953+98T>C
|
rs81002901
|
0.00236
|
NM_004360.5(CDH1):c.345G>A (p.Thr115=)
|
rs1801023
|
0.00236
|
NM_001377265.1(MAPT):c.896T>G (p.Val299Gly)
|
rs141120474
|
0.00235
|
NM_007194.4(CHEK2):c.593-14C>T
|
rs145754558
|
0.00235
|
NM_002439.5(MSH3):c.2732T>G (p.Leu911Trp)
|
rs41545019
|
0.00233
|
NM_007294.4(BRCA1):c.114G>A (p.Lys38=)
|
rs1800062
|
0.00233
|
NM_020921.4(NIN):c.2665G>C (p.Val889Leu)
|
rs78251482
|
0.00231
|
NM_000465.4(BARD1):c.1977A>G (p.Arg659=)
|
rs147215925
|
0.00230
|
NM_000153.4(GALC):c.334A>G (p.Thr112Ala)
|
rs147313927
|
0.00229
|
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=)
|
rs1799952
|
0.00228
|
NM_000059.4(BRCA2):c.7626G>A (p.Thr2542=)
|
rs61754138
|
0.00228
|
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=)
|
rs1801250
|
0.00228
|
NM_000122.2(ERCC3):c.2111C>T (p.Ser704Leu)
|
rs4150521
|
0.00227
|
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile)
|
rs61729954
|
0.00227
|
NM_001009944.3(PKD1):c.3316C>G (p.Leu1106Val)
|
rs141625744
|
0.00226
|
NM_000153.4(GALC):c.1862G>A (p.Arg621His)
|
rs192911803
|
0.00224
|
NM_198129.4(LAMA3):c.4060G>A (p.Glu1354Lys)
|
rs34799994
|
0.00224
|
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala)
|
rs147222255
|
0.00223
|
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val)
|
rs62646863
|
0.00222
|
NM_001009944.3(PKD1):c.6749C>T (p.Thr2250Met)
|
rs139971481
|
0.00222
|
NM_144773.4(PROKR2):c.518T>G (p.Leu173Arg)
|
rs74315416
|
0.00220
|
NM_000316.3(PTH1R):c.299G>A (p.Gly100Asp)
|
rs41290646
|
0.00218
|
NM_000465.4(BARD1):c.620A>G (p.Lys207Arg)
|
rs34969857
|
0.00218
|
NM_001171613.2(PREPL):c.1595A>G (p.Lys532Arg)
|
rs111438719
|
0.00218
|
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala)
|
rs144942544
|
0.00217
|
NM_001001557.4(GDF6):c.112G>C (p.Gly38Arg)
|
rs139075817
|
0.00217
|
NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala)
|
rs144787939
|
0.00217
|
NM_005245.4(FAT1):c.2563G>A (p.Gly855Arg)
|
rs180820128
|
0.00216
|
NM_199420.4(POLQ):c.273G>T (p.Lys91Asn)
|
rs61757738
|
0.00216
|
NM_001009944.3(PKD1):c.7863+11C>T
|
rs368629973
|
0.00214
|
NM_000038.6(APC):c.705A>G (p.Leu235=)
|
rs147036141
|
0.00213
|
NM_000384.3(APOB):c.11257T>C (p.Phe3753Leu)
|
rs61741974
|
0.00213
|
NM_001142800.2(EYS):c.788A>G (p.His263Arg)
|
rs139517572
|
0.00213
|
NM_058179.4(PSAT1):c.367A>G (p.Ile123Val)
|
rs116577685
|
0.00213
|
NM_000534.5(PMS1):c.1609G>A (p.Glu537Lys)
|
rs151325573
|
0.00212
|
NM_000441.1(SLC26A4):c.-103T>C
|
rs60284988
|
0.00209
|
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp)
|
rs4986845
|
0.00209
|
NM_000036.3(AMPD1):c.1162C>T (p.Arg388Trp)
|
rs35859650
|
0.00208
|
NM_000455.5(STK11):c.464+9G>A
|
rs376313955
|
0.00208
|
NM_001009944.3(PKD1):c.8948+11C>T
|
rs147923678
|
0.00208
|
NM_005245.4(FAT1):c.9440T>G (p.Val3147Gly)
|
rs188733415
|
0.00208
|
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser)
|
rs147241704
|
0.00207
|
NM_002485.5(NBN):c.643C>T (p.Arg215Trp)
|
rs34767364
|
0.00206
|
NM_020436.5(SALL4):c.2483C>T (p.Thr828Met)
|
rs147158259
|
0.00206
|
NM_002496.4(NDUFS8):c.4C>T (p.Arg2Cys)
|
rs150278938
|
0.00205
|
NM_006231.4(POLE):c.5334C>T (p.Ala1778=)
|
rs11146986
|
0.00205
|
NM_006269.2(RP1):c.4250T>C (p.Leu1417Pro)
|
rs139294220
|
0.00204
|
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys)
|
rs55977008
|
0.00203
|
NM_000535.7(PMS2):c.2182A>G (p.Thr728Ala)
|
rs141893001
|
0.00203
|
NM_001009944.3(PKD1):c.4872C>T (p.Ile1624=)
|
rs142575178
|
0.00203
|
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro)
|
rs11571746
|
0.00202
|
NM_004407.4(DMP1):c.815G>A (p.Arg272His)
|
rs145237146
|
0.00202
|
NM_014915.3(ANKRD26):c.92G>C (p.Gly31Ala)
|
rs199849785
|
0.00202
|
NM_017775.4(TTC19):c.820A>G (p.Arg274Gly)
|
rs147111211
|
0.00202
|
NM_024675.4(PALB2):c.1810C>T (p.Leu604=)
|
rs144015319
|
0.00202
|
NM_024675.4(PALB2):c.721A>G (p.Asn241Asp)
|
rs113217267
|
0.00202
|
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu)
|
rs17883862
|
0.00201
|
NM_000051.4(ATM):c.162T>C (p.Tyr54=)
|
rs3218690
|
0.00200
|
NM_014336.5(AIPL1):c.1006G>A (p.Ala336Thr)
|
rs143092701
|
0.00200
|
NM_016341.4(PLCE1):c.2999G>A (p.Ser1000Asn)
|
rs61751498
|
0.00200
|
NC_000022.11:g.36799983C>T
|
rs73156248
|
0.00199
|
NM_001009944.3(PKD1):c.837G>A (p.Gly279=)
|
rs372124319
|
0.00199
|
NM_000228.3(LAMB3):c.332A>G (p.Asp111Gly)
|
rs55824996
|
0.00198
|
NM_001009944.3(PKD1):c.10406-4C>T
|
rs151095649
|
0.00198
|
NM_001040108.2(MLH3):c.2425A>G (p.Met809Val)
|
rs61752722
|
0.00197
|
NM_002691.4(POLD1):c.56G>A (p.Arg19His)
|
rs3218773
|
0.00197
|
NM_006164.5(NFE2L2):c.529T>G (p.Leu177Val)
|
rs35577826
|
0.00197
|
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro)
|
rs4988347
|
0.00197
|
NM_000123.4(ERCC5):c.3177C>T (p.Gly1059=)
|
rs148856875
|
0.00196
|
NM_005373.3(MPL):c.1654-10T>A
|
rs200460456
|
0.00196
|
NM_000051.4(ATM):c.8269-14A>T
|
rs114320959
|
0.00195
|
NM_005006.7(NDUFS1):c.-5+236T>C
|
rs184505364
|
0.00195
|
NC_000001.11:g.198634168C>T
|
rs114494734
|
0.00194
|
NM_032043.3(BRIP1):c.2937A>G (p.Lys979=)
|
rs75091137
|
0.00194
|
NM_024675.4(PALB2):c.1606C>T (p.Leu536=)
|
rs151162255
|
0.00193
|
NM_025074.7(FRAS1):c.5374G>A (p.Ala1792Thr)
|
rs150916370
|
0.00193
|
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)
|
rs75391579
|
0.00192
|
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn)
|
rs143340522
|
0.00192
|
NM_001142800.2(EYS):c.4985A>T (p.Asp1662Val)
|
rs147641443
|
0.00192
|
NM_022662.4(ANAPC1):c.3100G>A (p.Val1034Met)
|
rs548028803
|
0.00192
|
NM_000059.4(BRCA2):c.231T>G (p.Thr77=)
|
rs114446594
|
0.00191
|
NM_005245.4(FAT1):c.3749A>G (p.Tyr1250Cys)
|
rs142805532
|
0.00191
|
NM_001080472.4(FITM2):c.773A>G (p.Asp258Gly)
|
rs142318812
|
0.00190
|
NM_005236.3(ERCC4):c.2117T>C (p.Ile706Thr)
|
rs1800069
|
0.00190
|
NM_007194.4(CHEK2):c.1407G>A (p.Val469=)
|
rs17881378
|
0.00190
|
NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile)
|
rs56357060
|
0.00189
|
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile)
|
rs189806840
|
0.00189
|
NM_015717.5(CD207):c.790T>C (p.Trp264Arg)
|
rs200837270
|
0.00189
|
NM_000249.4(MLH1):c.790+10A>G
|
rs182733777
|
0.00188
|
NM_002485.5(NBN):c.283G>A (p.Asp95Asn)
|
rs61753720
|
0.00188
|
NM_002691.4(POLD1):c.378C>T (p.Arg126=)
|
rs145324823
|
0.00188
|
NM_005529.7(HSPG2):c.1238G>A (p.Arg413Gln)
|
rs140621959
|
0.00188
|
NM_016341.4(PLCE1):c.1567A>G (p.Ile523Val)
|
rs61751494
|
0.00188
|
NM_139285.4(GAS2L2):c.1441G>A (p.Ala481Thr)
|
rs143921323
|
0.00188
|
NM_153704.6(TMEM67):c.1078A>G (p.Thr360Ala)
|
rs140191346
|
0.00188
|
NM_007294.4(BRCA1):c.5277+48_5277+59dup
|
rs572766355
|
0.00187
|
NM_000051.4(ATM):c.1229T>C (p.Val410Ala)
|
rs56128736
|
0.00186
|
NM_001171.6(ABCC6):c.3064C>G (p.Gln1022Glu)
|
rs57179857
|
0.00186
|
NM_170682.4(P2RX2):c.774+7C>G
|
rs199743808
|
0.00186
|
NM_000466.3(PEX1):c.637C>T (p.Leu213Phe)
|
rs141798874
|
0.00185
|
NM_001009944.3(PKD1):c.5307T>C (p.His1769=)
|
rs575064371
|
0.00185
|
NM_020745.4(AARS2):c.1084A>T (p.Met362Leu)
|
rs147091256
|
0.00185
|
NM_000251.3(MSH2):c.23C>T (p.Thr8Met)
|
rs17217716
|
0.00184
|
NM_022081.6(HPS4):c.1396C>T (p.Arg466Cys)
|
rs147435410
|
0.00184
|
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala)
|
rs28897710
|
0.00182
|
NM_000535.7(PMS2):c.23+10G>C
|
rs192027828
|
0.00182
|
NM_001009944.3(PKD1):c.8713G>A (p.Val2905Ile)
|
rs147788838
|
0.00182
|
NM_001145252.3(CFP):c.895G>A (p.Asp299Asn)
|
rs61737993
|
0.00182
|
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter)
|
rs116987552
|
0.00181
|
NM_007194.4(CHEK2):c.1100del (p.Thr367fs)
|
rs555607708
|
0.00181
|
NM_001164508.2(NEB):c.18579+6T>C
|
rs116189169
|
0.00180
|
NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys)
|
rs61760163
|
0.00179
|
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro)
|
rs139007661
|
0.00179
|
NM_003000.3(SDHB):c.423+20T>A
|
rs190139590
|
0.00179
|
NM_006231.4(POLE):c.2561+6T>C
|
rs116231808
|
0.00179
|
NM_001009944.3(PKD1):c.12460C>T (p.Arg4154Cys)
|
rs115538130
|
0.00178
|
NM_021076.4(NEFH):c.2601G>T (p.Lys867Asn)
|
rs138156220
|
0.00178
|
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu)
|
rs116373169
|
0.00177
|
NM_000297.4(PKD2):c.1445T>G (p.Phe482Cys)
|
rs75762896
|
0.00176
|
NM_000465.4(BARD1):c.33G>T (p.Gln11His)
|
rs143914387
|
0.00176
|
NM_000233.4(LHCGR):c.568C>A (p.Gln190Lys)
|
rs61996318
|
0.00175
|
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr)
|
rs121912691
|
0.00175
|
NM_000426.4(LAMA2):c.1621A>G (p.Ser541Gly)
|
rs141363186
|
0.00175
|
NM_002253.4(KDR):c.1384T>G (p.Leu462Val)
|
rs56286620
|
0.00175
|
NM_006734.4(HIVEP2):c.4654C>T (p.Pro1552Ser)
|
rs181273304
|
0.00175
|
NM_000250.2(MPO):c.1705C>T (p.Arg569Trp)
|
rs119468010
|
0.00173
|
NM_001128164.2(ATXN1):c.95C>G (p.Thr32Ser)
|
rs150375774
|
0.00173
|
NM_001151.4(SLC25A4):c.490A>G (p.Ile164Val)
|
rs143511445
|
0.00173
|
NM_032043.3(BRIP1):c.2286T>C (p.Arg762=)
|
rs61754141
|
0.00173
|
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr)
|
rs140992177
|
0.00171
|
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His)
|
rs143987857
|
0.00171
|
NM_002878.4(RAD51D):c.481-7G>A
|
rs145832514
|
0.00171
|
NM_005422.4(TECTA):c.2061C>G (p.Asn687Lys)
|
rs139165033
|
0.00171
|
NM_000059.4(BRCA2):c.1798T>C (p.Tyr600His)
|
rs75419644
|
0.00170
|
NM_004525.3(LRP2):c.3122A>G (p.Asn1041Ser)
|
rs143028579
|
0.00170
|
NM_006231.4(POLE):c.4523G>A (p.Arg1508His)
|
rs142508245
|
0.00170
|
NM_015425.6(POLR1A):c.2017C>G (p.Pro673Ala)
|
rs191928354
|
0.00170
|
NM_178335.3(CCDC50):c.1276A>G (p.Lys426Glu)
|
rs114146378
|
0.00170
|
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg)
|
rs1800059
|
0.00169
|
NM_003859.3(DPM1):c.40C>T (p.Arg14Trp)
|
rs117175017
|
0.00169
|
NM_000059.4(BRCA2):c.4187A>G (p.Gln1396Arg)
|
rs55969723
|
0.00168
|
NM_000314.8(PTEN):c.132C>T (p.Gly44=)
|
rs150651961
|
0.00168
|
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)
|
rs34612342
|
0.00168
|
NM_002878.4(RAD51D):c.568G>A (p.Ala190Thr)
|
rs80116829
|
0.00167
|
NM_006231.4(POLE):c.6453C>T (p.Tyr2151=)
|
rs116076060
|
0.00167
|
NM_000051.4(ATM):c.609C>T (p.Asp203=)
|
rs144709948
|
0.00166
|
NM_000051.4(ATM):c.7788+8G>T
|
rs112775908
|
0.00165
|
NM_001009944.3(PKD1):c.3183G>A (p.Glu1061=)
|
rs148727945
|
0.00165
|
NM_007294.4(BRCA1):c.21C>T (p.Arg7=)
|
rs149402012
|
0.00165
|
NM_003193.5(TBCE):c.394G>A (p.Val132Ile)
|
rs144448831
|
0.00164
|
NM_000044.6(AR):c.1174C>T (p.Pro392Ser)
|
rs201934623
|
0.00163
|
NM_001374504.1(TMPRSS6):c.457C>T (p.Arg153Cys)
|
rs116092750
|
0.00162
|
NM_006019.4(TCIRG1):c.90C>T (p.Gly30=)
|
rs141859450
|
0.00162
|
NM_000038.6(APC):c.120G>A (p.Glu40=)
|
rs142720069
|
0.00161
|
NM_001009944.3(PKD1):c.4917C>T (p.Gly1639=)
|
rs148852027
|
0.00161
|
NM_000567.3(CRP):c.176C>T (p.Thr59Met)
|
rs77832441
|
0.00160
|
NM_024675.4(PALB2):c.400G>A (p.Asp134Asn)
|
rs139555085
|
0.00160
|
NM_199420.4(POLQ):c.5158C>T (p.Leu1720Phe)
|
rs139982859
|
0.00160
|
NM_000251.3(MSH2):c.1277-8T>C
|
rs145400590
|
0.00159
|
NM_002691.4(POLD1):c.80A>T (p.Asp27Val)
|
rs150066950
|
0.00159
|
NM_004360.5(CDH1):c.2292C>T (p.Asp764=)
|
rs61747636
|
0.00159
|
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys)
|
rs4987046
|
0.00158
|
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala)
|
rs11571747
|
0.00158
|
NM_000123.4(ERCC5):c.1789G>C (p.Val597Leu)
|
rs4150319
|
0.00158
|
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile)
|
rs3211299
|
0.00158
|
NM_000314.8(PTEN):c.1104T>C (p.Asp368=)
|
rs35979531
|
0.00158
|
NM_001379286.1(ZNF423):c.1655G>T (p.Gly552Val)
|
rs34425379
|
0.00158
|
NM_007294.4(BRCA1):c.1137T>G (p.Ile379Met)
|
rs56128296
|
0.00158
|
NM_024996.7(GFM1):c.788A>G (p.Gln263Arg)
|
rs115984741
|
0.00158
|
NM_000418.4(IL4R):c.1774G>T (p.Val592Leu)
|
rs138392496
|
0.00156
|
NM_000431.4(MVK):c.1129G>A (p.Val377Ile)
|
rs28934897
|
0.00156
|
NM_002528.7(NTHL1):c.503T>C (p.Ile168Thr)
|
rs1805378
|
0.00155
|
NM_001048174.2(MUTYH):c.1501C>A (p.Leu501Met)
|
rs3219496
|
0.00154
|
NM_000022.4(ADA):c.402C>T (p.Gly134=)
|
rs146921882
|
0.00153
|
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His)
|
rs1800552
|
0.00153
|
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn)
|
rs142155101
|
0.00153
|
NM_006269.2(RP1):c.3826C>T (p.Pro1276Ser)
|
rs151316028
|
0.00153
|
NM_016239.4(MYO15A):c.1111C>A (p.Pro371Thr)
|
rs200382813
|
0.00153
|
NM_000789.4(ACE):c.209C>T (p.Ala70Val)
|
rs372565955
|
0.00152
|
NM_001009185.3(ACSL6):c.1652C>T (p.Thr551Met)
|
rs115302912
|
0.00151
|
NM_000215.4(JAK3):c.3268G>A (p.Ala1090Thr)
|
rs144968714
|
0.00150
|
NM_002253.4(KDR):c.1615G>A (p.Gly539Arg)
|
rs55716939
|
0.00150
|
NM_007294.4(BRCA1):c.4113G>A (p.Gly1371=)
|
rs147448807
|
0.00150
|
NM_007294.4(BRCA1):c.4682C>T (p.Thr1561Ile)
|
rs56158747
|
0.00150
|
NM_000359.3(TGM1):c.61A>G (p.Thr21Ala)
|
rs140542428
|
0.00149
|
NM_006231.4(POLE):c.5124C>T (p.Phe1708=)
|
rs114891564
|
0.00149
|
NM_000081.4(LYST):c.6710A>C (p.Gln2237Pro)
|
rs138443479
|
0.00148
|
NM_007294.4(BRCA1):c.2109A>G (p.Thr703=)
|
rs4986844
|
0.00147
|
NM_015102.5(NPHP4):c.2519G>A (p.Ser840Asn)
|
rs147588666
|
0.00147
|
NM_000038.6(APC):c.8068G>A (p.Ala2690Thr)
|
rs140868933
|
0.00146
|
NM_000051.4(ATM):c.2608A>G (p.Asn870Asp)
|
rs61734354
|
0.00146
|
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu)
|
rs80358600
|
0.00146
|
NM_001288705.3(CSF1R):c.2862C>T (p.Cys954=)
|
rs56005231
|
0.00146
|
NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg)
|
rs149781976
|
0.00146
|
NM_001009944.3(PKD1):c.7636C>T (p.His2546Tyr)
|
rs200037070
|
0.00145
|
NM_002485.5(NBN):c.511A>G (p.Ile171Val)
|
rs61754966
|
0.00145
|
NM_004360.5(CDH1):c.2440-6C>G
|
rs139757930
|
0.00145
|
NM_007294.4(BRCA1):c.4600G>A (p.Val1534Met)
|
rs55815649
|
0.00145
|
NM_001009944.3(PKD1):c.2235C>G (p.Ala745=)
|
rs533569454
|
0.00144
|
NM_002180.3(IGHMBP2):c.2922T>G (p.Asp974Glu)
|
rs147674615
|
0.00144
|
NM_000038.6(APC):c.6921G>A (p.Ser2307=)
|
rs2229993
|
0.00143
|
NM_000249.4(MLH1):c.2146G>A (p.Val716Met)
|
rs35831931
|
0.00143
|
NM_000251.3(MSH2):c.1387-8G>T
|
rs187525243
|
0.00143
|
NM_003079.5(SMARCE1):c.1079G>A (p.Gly360Asp)
|
rs142193069
|
0.00143
|
NM_002691.4(POLD1):c.2967G>A (p.Thr989=)
|
rs3218752
|
0.00142
|
NM_015425.6(POLR1A):c.1097C>T (p.Ser366Phe)
|
rs183490100
|
0.00142
|
NM_000059.4(BRCA2):c.9634G>C (p.Gly3212Arg)
|
rs55775473
|
0.00141
|
NM_001009944.3(PKD1):c.1202C>T (p.Ala401Val)
|
rs139917246
|
0.00140
|
NM_001164508.2(NEB):c.23776C>T (p.Pro7926Ser)
|
rs193224180
|
0.00140
|
NM_005045.4(RELN):c.3477C>A (p.Asn1159Lys)
|
rs114684479
|
0.00140
|
NM_015294.6(TRIM37):c.1919G>A (p.Arg640His)
|
rs112762655
|
0.00140
|
NM_182914.3(SYNE2):c.16156C>T (p.Leu5386Phe)
|
rs184745422
|
0.00140
|
NM_000051.4(ATM):c.1066-6T>G
|
rs201686625
|
0.00139
|
NM_000314.8(PTEN):c.-9C>G
|
rs11202592
|
0.00139
|
NM_000601.6(HGF):c.137C>T (p.Ala46Val)
|
rs150267054
|
0.00139
|
NM_001009944.3(PKD1):c.11538-11C>T
|
rs377692278
|
0.00139
|
NM_000059.4(BRCA2):c.2138A>T (p.Gln713Leu)
|
rs55816687
|
0.00138
|
NM_000094.4(COL7A1):c.1613G>A (p.Arg538His)
|
rs138791004
|
0.00138
|
NM_000251.3(MSH2):c.1737A>G (p.Lys579=)
|
rs61756467
|
0.00138
|
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter)
|
rs150766139
|
0.00138
|
NM_173076.3(ABCA12):c.2033A>G (p.Asn678Ser)
|
rs147218173
|
0.00138
|
NM_000044.6(AR):c.2395C>G (p.Gln799Glu)
|
rs137852591
|
0.00137
|
NM_000051.4(ATM):c.998C>T (p.Ser333Phe)
|
rs28904919
|
0.00137
|
NM_001009944.3(PKD1):c.9456G>A (p.Arg3152=)
|
rs146745256
|
0.00137
|
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp)
|
rs1800709
|
0.00137
|
NM_004329.3(BMPR1A):c.1560G>A (p.Thr520=)
|
rs142775086
|
0.00136
|
NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys)
|
rs200649500
|
0.00136
|
NM_181882.3(PRX):c.1574T>C (p.Val525Ala)
|
rs149715830
|
0.00136
|
NM_000059.4(BRCA2):c.8488-52A>G
|
rs192566064
|
0.00135
|
NM_000213.5(ITGB4):c.1345G>A (p.Gly449Ser)
|
rs147963396
|
0.00135
|
NM_001009944.3(PKD1):c.11017-3C>T
|
rs185355445
|
0.00135
|
NM_002691.4(POLD1):c.2007-4G>A
|
rs202035484
|
0.00135
|
NM_144508.5(KNL1):c.4772A>G (p.Asn1591Ser)
|
rs200656662
|
0.00135
|
NM_000179.3(MSH6):c.3647-6T>A
|
rs182871847
|
0.00134
|
NM_001304388.2(GOLGA6L2):c.1975G>A (p.Glu659Lys)
|
rs368864824
|
0.00134
|
NM_001372574.1(ATXN2):c.992A>G (p.Asn331Ser)
|
rs117851901
|
0.00134
|
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=)
|
rs28897762
|
0.00132
|
NM_000336.3(SCNN1B):c.466C>T (p.Arg156Trp)
|
rs139310448
|
0.00132
|
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr)
|
rs1762111
|
0.00132
|
NM_000369.5(TSHR):c.1600C>T (p.Arg534Cys)
|
rs150602845
|
0.00132
|
NM_001447.3(FAT2):c.3399C>A (p.Asn1133Lys)
|
rs138913417
|
0.00132
|
NM_003722.5(TP63):c.580-11A>T
|
rs148217164
|
0.00131
|
NM_032119.4(ADGRV1):c.11974G>A (p.Asp3992Asn)
|
rs201386977
|
0.00131
|
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile)
|
rs35719192
|
0.00130
|
NM_000047.3(ARSL):c.1694T>G (p.Ile565Ser)
|
rs142375403
|
0.00129
|
NM_000305.3(PON2):c.358A>G (p.Ile120Val)
|
rs116397473
|
0.00129
|
NM_001365951.3(KIF1B):c.2115+6625G>A
|
rs145248590
|
0.00129
|
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu)
|
rs104893941
|
0.00129
|
NM_004260.4(RECQL4):c.716C>T (p.Ala239Val)
|
rs146709578
|
0.00129
|
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr)
|
rs139866691
|
0.00129
|
NM_001009944.3(PKD1):c.8364G>A (p.Ser2788=)
|
rs145176597
|
0.00128
|
NM_004655.4(AXIN2):c.1807G>C (p.Ala603Pro)
|
rs145353986
|
0.00128
|
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser)
|
rs28897747
|
0.00127
|
NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile)
|
rs77358650
|
0.00127
|
NM_002253.4(KDR):c.170G>C (p.Arg57Thr)
|
rs139047809
|
0.00127
|
NM_000059.4(BRCA2):c.6821G>T (p.Gly2274Val)
|
rs55712212
|
0.00126
|
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg)
|
rs140781259
|
0.00126
|
NM_000147.5(FUCA1):c.433T>C (p.Trp145Arg)
|
rs150062050
|
0.00126
|
NM_006206.6(PDGFRA):c.2282T>G (p.Leu761Arg)
|
rs148654387
|
0.00126
|
NM_133261.3(GIPC3):c.856G>A (p.Val286Ile)
|
rs138339125
|
0.00126
|
NM_000051.4(ATM):c.4473C>T (p.Phe1491=)
|
rs4988008
|
0.00125
|
NM_000222.3(KIT):c.1588G>A (p.Val530Ile)
|
rs72550822
|
0.00125
|
NM_001009944.3(PKD1):c.9499A>T (p.Ile3167Phe)
|
rs139945204
|
0.00125
|
NM_001698.3(AUH):c.381A>G (p.Ile127Met)
|
rs146227896
|
0.00125
|
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg)
|
rs11212587
|
0.00124
|
NM_001018115.3(FANCD2):c.983G>A (p.Arg328Gln)
|
rs35625434
|
0.00124
|
NM_001142800.2(EYS):c.5743A>G (p.Ser1915Gly)
|
rs188093810
|
0.00124
|
NM_012232.6(CAVIN1):c.540G>A (p.Glu180=)
|
rs143511306
|
0.00124
|
NM_021008.4(DEAF1):c.56T>C (p.Val19Ala)
|
rs767318857
|
0.00124
|
NM_000455.5(STK11):c.598-8C>T
|
rs373610101
|
0.00123
|
NM_000546.6(TP53):c.139C>T (p.Pro47Ser)
|
rs1800371
|
0.00123
|
NM_001009944.3(PKD1):c.10400C>T (p.Ala3467Val)
|
rs144590217
|
0.00123
|
NM_004525.3(LRP2):c.13921A>T (p.Thr4641Ser)
|
rs79179577
|
0.00123
|
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp)
|
rs45478192
|
0.00121
|
NM_024675.4(PALB2):c.3495G>A (p.Ser1165=)
|
rs45439097
|
0.00121
|
NM_173560.4(RFX6):c.223G>C (p.Glu75Gln)
|
rs201996097
|
0.00121
|
NM_000059.4(BRCA2):c.9257-49T>C
|
rs117850955
|
0.00120
|
NM_001009944.3(PKD1):c.-109C>T
|
rs1034012323
|
0.00120
|
NM_001009944.3(PKD1):c.1281G>A (p.Ala427=)
|
rs141553109
|
0.00120
|
NM_144508.5(KNL1):c.812C>G (p.Thr271Ser)
|
rs201037775
|
0.00120
|
NM_018389.5(SLC35C1):c.598G>A (p.Val200Ile)
|
rs146971634
|
0.00118
|
NM_000535.7(PMS2):c.2340C>T (p.Pro780=)
|
rs142230276
|
0.00117
|
NM_001114753.3(ENG):c.179C>A (p.Ala60Asp)
|
rs146100407
|
0.00117
|
NM_001374504.1(TMPRSS6):c.362G>A (p.Arg121His)
|
rs142400865
|
0.00117
|
NM_006225.4(PLCD1):c.35-4000A>G
|
rs143961610
|
0.00117
|
NM_007294.4(BRCA1):c.591C>T (p.Cys197=)
|
rs1799965
|
0.00117
|
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala)
|
rs113994167
|
0.00116
|
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys)
|
rs1801155
|
0.00116
|
NM_001009944.3(PKD1):c.588C>T (p.Ser196=)
|
rs776302294
|
0.00116
|
NM_004937.3(CTNS):c.220G>A (p.Asp74Asn)
|
rs139364393
|
0.00116
|
NM_020435.4(GJC2):c.575C>G (p.Pro192Arg)
|
rs375318012
|
0.00116
|
NM_144508.5(KNL1):c.2600A>G (p.Asp867Gly)
|
rs150467089
|
0.00116
|
NM_000249.4(MLH1):c.-7C>T
|
rs104894994
|
0.00115
|
NM_001369.3(DNAH5):c.8002G>A (p.Gly2668Arg)
|
rs147236883
|
0.00115
|
NM_002485.5(NBN):c.1317A>G (p.Ile439Met)
|
rs28538230
|
0.00114
|
NM_000094.4(COL7A1):c.4559C>T (p.Pro1520Leu)
|
rs140114392
|
0.00113
|
NM_000130.5(F5):c.5265A>G (p.Ile1755Met)
|
rs41272455
|
0.00113
|
NM_001009944.3(PKD1):c.8161+12C>T
|
rs375283810
|
0.00113
|
NM_001048174.2(MUTYH):c.914-27G>A
|
rs188830619
|
0.00113
|
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg)
|
rs28997570
|
0.00113
|
NM_000044.6(AR):c.170T>A (p.Leu57Gln)
|
rs78686797
|
0.00112
|
NM_001941.5(DSC3):c.2488G>A (p.Gly830Ser)
|
rs142851621
|
0.00112
|
NM_022369.4(STRA6):c.1685-5C>G
|
rs201730717
|
0.00112
|
NM_000552.5(VWF):c.974G>T (p.Cys325Phe)
|
rs11837584
|
0.00111
|
NM_000029.4(AGT):c.151T>C (p.Cys51Arg)
|
rs61731497
|
0.00110
|
NM_000044.6(AR):c.1424C>T (p.Ala475Val)
|
rs200390780
|
0.00110
|
NM_000249.4(MLH1):c.-28A>G
|
rs56198082
|
0.00110
|
NM_000307.5(POU3F4):c.139C>T (p.Pro47Ser)
|
rs144417952
|
0.00110
|
NM_002691.4(POLD1):c.2275G>A (p.Val759Ile)
|
rs145473716
|
0.00110
|
NM_000059.4(BRCA2):c.1040A>G (p.Gln347Arg)
|
rs55800493
|
0.00109
|
NM_000059.4(BRCA2):c.1911T>C (p.Gly637=)
|
rs11571652
|
0.00109
|
NM_000094.4(COL7A1):c.8371C>T (p.Arg2791Trp)
|
rs142566193
|
0.00109
|
NM_001009944.3(PKD1):c.580G>A (p.Ala194Thr)
|
rs769369111
|
0.00109
|
NM_002691.4(POLD1):c.33C>T (p.Pro11=)
|
rs3218768
|
0.00109
|
NM_004525.3(LRP2):c.391A>G (p.Arg131Gly)
|
rs34592807
|
0.00109
|
NM_000059.4(BRCA2):c.175C>G (p.Pro59Ala)
|
rs56091799
|
0.00108
|
NM_001009944.3(PKD1):c.9924-11C>T
|
rs201154266
|
0.00108
|
NM_004900.5(APOBEC3B):c.174+1G>T
|
rs149211753
|
0.00108
|
NM_007294.4(BRCA1):c.765G>A (p.Glu255=)
|
rs62625299
|
0.00107
|
NM_000059.4(BRCA2):c.9235G>A (p.Val3079Ile)
|
rs55933907
|
0.00106
|
NM_000404.4(GLB1):c.623G>A (p.Arg208His)
|
rs111840209
|
0.00106
|
NM_006231.4(POLE):c.1323G>A (p.Pro441=)
|
rs116573514
|
0.00106
|
NM_007294.4(BRCA1):c.3083G>A (p.Arg1028His)
|
rs80357459
|
0.00106
|
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr)
|
rs56264519
|
0.00105
|
NM_006206.6(PDGFRA):c.1731G>A (p.Pro577=)
|
rs55830582
|
0.00105
|
NM_032581.4(HYCC1):c.191A>G (p.Tyr64Cys)
|
rs146913158
|
0.00105
|
NM_058216.3(RAD51C):c.195A>G (p.Arg65=)
|
rs45511291
|
0.00105
|
NM_173076.3(ABCA12):c.6919A>G (p.Ile2307Val)
|
rs150196545
|
0.00105
|
NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp)
|
rs28997569
|
0.00104
|
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys)
|
rs138327406
|
0.00103
|
NM_000059.4(BRCA2):c.7805+23G>A
|
rs113653200
|
0.00103
|
NM_000125.4(ESR1):c.406C>T (p.Pro136Ser)
|
rs201145204
|
0.00103
|
NM_000426.4(LAMA2):c.1814C>T (p.Thr605Ile)
|
rs112388307
|
0.00103
|
NM_002691.4(POLD1):c.3054G>A (p.Val1018=)
|
rs369613619
|
0.00103
|
NM_005245.4(FAT1):c.12622C>T (p.Arg4208Trp)
|
rs201960763
|
0.00103
|
NM_018480.7(TMEM126B):c.635G>T (p.Gly212Val)
|
rs141542003
|
0.00103
|
NM_024675.4(PALB2):c.1194G>A (p.Val398=)
|
rs61755173
|
0.00103
|
NM_031307.4(PUS3):c.-47+3170T>C
|
rs104894232
|
0.00103
|
NM_000051.4(ATM):c.2127T>C (p.Ile709=)
|
rs56252953
|
0.00102
|
NM_000059.4(BRCA2):c.6057C>T (p.Asn2019=)
|
rs147961615
|
0.00102
|
NM_001009944.3(PKD1):c.2192C>T (p.Pro731Leu)
|
rs979342927
|
0.00102
|
NM_001009944.3(PKD1):c.8298C>T (p.Ser2766=)
|
rs145850037
|
0.00102
|
NM_001166108.2(PALLD):c.1965-12594T>G
|
rs587780760
|
0.00102
|
NM_006946.4(SPTBN2):c.1972C>T (p.Arg658Trp)
|
rs199968321
|
0.00102
|
NM_007294.4(BRCA1):c.134+111C>T
|
rs8176100
|
0.00102
|
NM_181507.2(HPS5):c.241G>A (p.Ala81Thr)
|
rs147053126
|
0.00102
|
NM_000179.3(MSH6):c.984C>T (p.Ser328=)
|
rs138143769
|
0.00101
|
NM_001009944.3(PKD1):c.6915+14A>G
|
rs199559513
|
0.00101
|
NM_001368894.2(PAX6):c.141+55G>A
|
rs571151963
|
0.00101
|
NM_001378609.3(OTOGL):c.1815G>T (p.Gln605His)
|
rs192234924
|
0.00101
|
NM_024675.4(PALB2):c.909C>T (p.Leu303=)
|
rs145788619
|
0.00101
|
NM_138694.4(PKHD1):c.275G>A (p.Arg92Gln)
|
rs145886657
|
0.00101
|
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys)
|
rs55716624
|
0.00100
|
NM_002408.4(MGAT2):c.733G>C (p.Val245Leu)
|
rs117536357
|
0.00100
|
NM_001382347.1(MYO5A):c.3136G>A (p.Val1046Met)
|
rs56132571
|
0.00099
|
NM_003172.4(SURF1):c.211G>C (p.Val71Leu)
|
rs147993882
|
0.00099
|
NM_005236.3(ERCC4):c.1563C>G (p.Ser521Arg)
|
rs41552412
|
0.00099
|
NM_007294.4(BRCA1):c.5277+78G>A
|
rs80358107
|
0.00099
|
NM_020631.6(PLEKHG5):c.-88+6287G>A
|
rs554689677
|
0.00099
|
NM_000094.4(COL7A1):c.5819C>T (p.Pro1940Leu)
|
rs149267939
|
0.00098
|
NM_001171.6(ABCC6):c.2695C>T (p.Arg899Cys)
|
rs11861980
|
0.00098
|
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr)
|
rs4986854
|
0.00098
|
NM_213599.3(ANO5):c.692G>T (p.Gly231Val)
|
rs137854523
|
0.00098
|
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=)
|
rs11571655
|
0.00097
|
NM_001009944.3(PKD1):c.10678G>A (p.Gly3560Arg)
|
rs79000340
|
0.00097
|
NM_012414.4(RAB3GAP2):c.2290C>T (p.Leu764Phe)
|
rs139337049
|
0.00097
|
NM_173602.3(DIP2B):c.2374A>G (p.Ile792Val)
|
rs11169525
|
0.00097
|
NM_000036.3(AMPD1):c.468G>T (p.Gln156His)
|
rs139582106
|
0.00096
|
NM_000038.6(APC):c.1825G>A (p.Val609Ile)
|
rs147863331
|
0.00096
|
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu)
|
rs34231402
|
0.00096
|
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=)
|
rs28897711
|
0.00096
|
NM_000179.3(MSH6):c.3265T>C (p.Leu1089=)
|
rs34490141
|
0.00096
|
NM_016038.4(SBDS):c.127G>T (p.Val43Leu)
|
rs147652512
|
0.00096
|
NM_153490.3(KRT13):c.509C>G (p.Thr170Ser)
|
rs148102980
|
0.00096
|
NM_199420.4(POLQ):c.5636C>T (p.Ser1879Leu)
|
rs147121503
|
0.00096
|
NM_001384479.1(AGT):c.704T>G (p.Leu235Arg)
|
rs5041
|
0.00095
|
NM_007294.4(BRCA1):c.3022A>G (p.Met1008Val)
|
rs56321129
|
0.00095
|
NM_006231.4(POLE):c.1347G>A (p.Thr449=)
|
rs142373951
|
0.00094
|
NM_006521.6(TFE3):c.923G>A (p.Ser308Asn)
|
rs139188133
|
0.00094
|
NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu)
|
rs137982921
|
0.00094
|
NM_000038.6(APC):c.7514G>A (p.Arg2505Gln)
|
rs147549623
|
0.00093
|
NM_001009944.3(PKD1):c.2109C>T (p.His703=)
|
rs527655141
|
0.00093
|
NM_004999.4(MYO6):c.92T>C (p.Ile31Thr)
|
rs148735953
|
0.00093
|
NM_014915.3(ANKRD26):c.542C>T (p.Thr181Ile)
|
rs191015656
|
0.00093
|
NM_001009944.3(PKD1):c.3140C>T (p.Ser1047Leu)
|
rs147910505
|
0.00092
|
NM_004407.4(DMP1):c.1151G>A (p.Ser384Asn)
|
rs148498977
|
0.00092
|
NM_004407.4(DMP1):c.263C>T (p.Ala88Val)
|
rs144773084
|
0.00092
|
NM_014762.4(DHCR24):c.616G>A (p.Glu206Lys)
|
rs150688144
|
0.00092
|
NM_017950.4(CCDC40):c.1562+2018C>T
|
rs562415439
|
0.00092
|
NM_022081.6(HPS4):c.1543T>C (p.Cys515Arg)
|
rs148134252
|
0.00092
|
NM_144691.4(CAPN12):c.334G>A (p.Ala112Thr)
|
rs139948605
|
0.00092
|
NM_173076.3(ABCA12):c.3481A>T (p.Met1161Leu)
|
rs141077206
|
0.00092
|
NM_000136.3(FANCC):c.178G>A (p.Val60Ile)
|
rs138629441
|
0.00091
|
NM_000297.4(PKD2):c.1830G>A (p.Ala610=)
|
rs144968710
|
0.00091
|
NM_000493.4(COL10A1):c.43T>G (p.Leu15Val)
|
rs147612968
|
0.00091
|
NM_001009944.3(PKD1):c.6665C>T (p.Ala2222Val)
|
rs148496347
|
0.00091
|
NM_004304.5(ALK):c.4796C>A (p.Pro1599His)
|
rs1881423
|
0.00091
|
NM_001377.3(DYNC2H1):c.6047A>G (p.Tyr2016Cys)
|
rs200190291
|
0.00090
|
NM_003263.4(TLR1):c.1796C>T (p.Ser599Phe)
|
rs143576765
|
0.00090
|
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys)
|
rs201680145
|
0.00089
|
NM_002458.3(MUC5B):c.12581G>C (p.Ser4194Thr)
|
rs201822010
|
0.00089
|
NM_004900.5(APOBEC3B):c.1052G>A (p.Arg351His)
|
rs1053813
|
0.00089
|
NM_005585.5(SMAD6):c.290G>A (p.Gly97Glu)
|
rs566777509
|
0.00089
|
NM_000038.6(APC):c.6821C>T (p.Ala2274Val)
|
rs34919187
|
0.00088
|
NM_000059.4(BRCA2):c.5768A>C (p.Asp1923Ala)
|
rs45491005
|
0.00088
|
NM_000228.3(LAMB3):c.548G>A (p.Arg183His)
|
rs150895872
|
0.00088
|
NM_000535.7(PMS2):c.180C>G (p.Asp60Glu)
|
rs200313585
|
0.00088
|
NM_002691.4(POLD1):c.2628C>T (p.Ile876=)
|
rs75874199
|
0.00088
|
NM_138455.4(CTHRC1):c.467G>A (p.Arg156His)
|
rs145062750
|
0.00088
|
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn)
|
rs41294980
|
0.00087
|
NM_005670.4(EPM2A):c.680C>T (p.Ala227Val)
|
rs147399860
|
0.00087
|
NM_000953.3(PTGDR):c.928C>T (p.Arg310Ter)
|
rs142932547
|
0.00086
|
NM_001358921.2(COQ2):c.44C>G (p.Ala15Gly)
|
rs555411841
|
0.00086
|
NM_003489.4(NRIP1):c.3430T>G (p.Tyr1144Asp)
|
rs61733441
|
0.00086
|
NM_001377265.1(MAPT):c.1891G>A (p.Ala631Thr)
|
rs63750096
|
0.00085
|
NM_004621.6(TRPC6):c.1260G>A (p.Leu420=)
|
rs138155461
|
0.00085
|
NM_198578.4(LRRK2):c.2378G>T (p.Arg793Met)
|
rs35173587
|
0.00085
|
NM_198253.3(TERT):c.1336C>A (p.Arg446Ser)
|
rs567650961
|
0.00084
|
NM_001083116.3(PRF1):c.1620A>G (p.Gln540=)
|
rs149776121
|
0.00083
|
NM_001676.7(ATP12A):c.9+1G>A
|
rs762356809
|
0.00083
|
NM_002878.4(RAD51D):c.919G>A (p.Glu307Lys)
|
rs115031549
|
0.00083
|
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly)
|
rs151023718
|
0.00083
|
NM_032119.4(ADGRV1):c.9447+6G>A
|
rs201481219
|
0.00083
|
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg)
|
rs28897706
|
0.00082
|
NM_001312909.2(FAM111A):c.316A>G (p.Met106Val)
|
rs368439990
|
0.00082
|
NM_005236.3(ERCC4):c.1727G>C (p.Arg576Thr)
|
rs1800068
|
0.00082
|
NM_006231.4(POLE):c.139C>T (p.Arg47Trp)
|
rs143626223
|
0.00082
|
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr)
|
rs149711770
|
0.00081
|
NM_001009944.3(PKD1):c.-195G>A
|
rs867790304
|
0.00081
|
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys)
|
rs150792276
|
0.00081
|
NM_001358530.2(MOCS1):c.853G>A (p.Glu285Lys)
|
rs140243105
|
0.00081
|
NM_002496.4(NDUFS8):c.19C>A (p.Pro7Thr)
|
rs142658611
|
0.00081
|
NM_004329.3(BMPR1A):c.1327C>T (p.Arg443Cys)
|
rs35619497
|
0.00081
|
NM_018359.5(UFSP2):c.186A>G (p.Ile62Met)
|
rs142706569
|
0.00081
|
NM_152393.4(KLHL40):c.1273G>A (p.Gly425Ser)
|
rs138791086
|
0.00081
|
NM_000051.4(ATM):c.334G>A (p.Ala112Thr)
|
rs146382972
|
0.00080
|
NM_000238.4(KCNH2):c.2398+178C>T
|
rs41314366
|
0.00080
|
NM_001009944.3(PKD1):c.2039A>T (p.Tyr680Phe)
|
rs370141157
|
0.00080
|
NM_001009944.3(PKD1):c.8247G>A (p.Ala2749=)
|
rs143265128
|
0.00080
|
NM_001848.3(COL6A1):c.350T>C (p.Val117Ala)
|
rs138899581
|
0.00080
|
NM_006371.5(CRTAP):c.446A>G (p.Lys149Arg)
|
rs201564256
|
0.00080
|
NM_138694.4(PKHD1):c.1877A>G (p.Lys626Arg)
|
rs117122807
|
0.00080
|
NM_173477.5(USH1G):c.1258C>G (p.Leu420Val)
|
rs139897506
|
0.00080
|
NM_000051.4(ATM):c.1073A>G (p.Asn358Ser)
|
rs149636614
|
0.00079
|
NM_000051.4(ATM):c.3517T>C (p.Leu1173=)
|
rs141460670
|
0.00079
|
NM_000051.4(ATM):c.7928-10T>C
|
rs188404773
|
0.00079
|
NM_000238.4(KCNH2):c.2617G>A (p.Gly873Ser)
|
rs41314354
|
0.00079
|
NM_000283.4(PDE6B):c.794G>A (p.Arg265Gln)
|
rs144562730
|
0.00079
|
NM_001378609.3(OTOGL):c.3675G>C (p.Gln1225His)
|
rs139375212
|
0.00079
|
NM_207122.2(EXT2):c.1588G>A (p.Glu530Lys)
|
rs148711133
|
0.00079
|
NM_000297.4(PKD2):c.784G>A (p.Val262Met)
|
rs138132026
|
0.00078
|
NM_001009944.3(PKD1):c.10531C>G (p.Leu3511Val)
|
rs141946034
|
0.00078
|
NM_032043.3(BRIP1):c.918+15T>A
|
rs117820198
|
0.00078
|
NM_000051.4(ATM):c.2096A>G (p.Glu699Gly)
|
rs147934285
|
0.00077
|
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp)
|
rs63750447
|
0.00077
|
NM_000535.7(PMS2):c.2187C>G (p.Leu729=)
|
rs373630535
|
0.00077
|
NM_001211.6(BUB1B):c.3094A>C (p.Asn1032His)
|
rs34700927
|
0.00077
|
NM_007294.4(BRCA1):c.-86C>T
|
rs143160357
|
0.00077
|
NM_000051.4(ATM):c.3150T>C (p.Leu1050=)
|
rs3092859
|
0.00076
|
NM_001009944.3(PKD1):c.11965G>A (p.Gly3989Ser)
|
rs200279710
|
0.00076
|
NM_001304388.2(GOLGA6L2):c.1997A>G (p.Glu666Gly)
|
rs372736971
|
0.00076
|
NM_001378969.1(KCND3):c.1573A>G (p.Met525Val)
|
rs145890206
|
0.00076
|
NM_032043.3(BRIP1):c.3378A>C (p.Glu1126Asp)
|
rs145855459
|
0.00076
|
NM_138694.4(PKHD1):c.10926G>A (p.Met3642Ile)
|
rs78518523
|
0.00076
|
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro)
|
rs141137543
|
0.00075
|
NM_004655.4(AXIN2):c.1168A>G (p.Ser390Gly)
|
rs139871607
|
0.00075
|
NM_014363.6(SACS):c.2146C>T (p.His716Tyr)
|
rs146852400
|
0.00075
|
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe)
|
rs41293475
|
0.00074
|
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr)
|
rs28897708
|
0.00074
|
NM_000136.3(FANCC):c.816C>T (p.Ile272=)
|
rs55719336
|
0.00074
|
NM_001165963.4(SCN1A):c.5951C>A (p.Pro1984His)
|
rs146733308
|
0.00074
|
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val)
|
rs116135678
|
0.00074
|
NM_000070.3(CAPN3):c.2257G>A (p.Asp753Asn)
|
rs146923842
|
0.00073
|
NM_000341.4(SLC3A1):c.1126G>A (p.Gly376Ser)
|
rs143068960
|
0.00073
|
NM_001009944.3(PKD1):c.9640C>T (p.Leu3214=)
|
rs12102740
|
0.00073
|
NM_001127178.3(PIGG):c.1515G>A (p.Trp505Ter)
|
rs150259543
|
0.00073
|
NM_006044.4(HDAC6):c.218G>C (p.Gly73Ala)
|
rs145349858
|
0.00073
|
NM_022464.5(SIL1):c.1039G>A (p.Glu347Lys)
|
rs73265454
|
0.00073
|
NM_000251.3(MSH2):c.942+3A>T
|
rs193922376
|
0.00072
|
NM_000297.4(PKD2):c.-14C>A
|
rs552115097
|
0.00072
|
NM_000535.7(PMS2):c.2149G>A (p.Val717Met)
|
rs201671325
|
0.00072
|
NM_001267550.2(TTN):c.38902C>T (p.Pro12968Ser)
|
rs192528655
|
0.00072
|
NM_002016.2(FLG):c.2761G>A (p.Asp921Asn)
|
rs781592684
|
0.00072
|
NM_003835.4(RGS9):c.1658T>C (p.Val553Ala)
|
rs201026246
|
0.00072
|
NM_175875.5(SIX5):c.1656G>A (p.Thr552=)
|
rs149475634
|
0.00072
|
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu)
|
rs2235006
|
0.00071
|
NM_001009944.3(PKD1):c.4925G>A (p.Arg1642His)
|
rs191014450
|
0.00071
|
NM_003742.4(ABCB11):c.3512T>C (p.Met1171Thr)
|
rs183621659
|
0.00071
|
NM_005245.4(FAT1):c.7130C>T (p.Thr2377Met)
|
rs201363601
|
0.00071
|
NM_006231.4(POLE):c.6004+11A>G
|
rs201591857
|
0.00071
|
NM_006892.4(DNMT3B):c.1144C>T (p.Arg382Cys)
|
rs35846833
|
0.00071
|
NM_001009944.3(PKD1):c.4836G>A (p.Thr1612=)
|
rs138116334
|
0.00070
|
NM_004260.4(RECQL4):c.1868G>A (p.Arg623His)
|
rs201734382
|
0.00070
|
NM_007194.4(CHEK2):c.320-5T>A
|
rs121908700
|
0.00070
|
NM_025074.7(FRAS1):c.1783G>A (p.Gly595Ser)
|
rs149843493
|
0.00070
|
NM_032581.4(HYCC1):c.766G>C (p.Ala256Pro)
|
rs142984808
|
0.00070
|
NM_177438.3(DICER1):c.59C>T (p.Ala20Val)
|
rs147660793
|
0.00070
|
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe)
|
rs55639415
|
0.00069
|
NM_007294.4(BRCA1):c.5074+108G>A
|
rs542257356
|
0.00069
|
NM_032043.3(BRIP1):c.3459T>C (p.Asp1153=)
|
rs4987050
|
0.00069
|
NM_001277058.2(ERCC6):c.2027T>G (p.Val676Gly)
|
rs139949788
|
0.00068
|
NM_002658.6(PLAU):c.878G>A (p.Arg293Gln)
|
rs546931331
|
0.00068
|
NM_006231.4(POLE):c.3851G>A (p.Arg1284Gln)
|
rs149462407
|
0.00068
|
NM_015102.5(NPHP4):c.2965G>A (p.Glu989Lys)
|
rs116606479
|
0.00068
|
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala)
|
rs63751005
|
0.00067
|
NM_000455.5(STK11):c.597+14del
|
rs536282050
|
0.00067
|
NM_001038.6(SCNN1A):c.614G>A (p.Ser205Asn)
|
rs147866964
|
0.00067
|
NM_001127217.3(SMAD9):c.1035G>A (p.Val345=)
|
rs150237947
|
0.00067
|
NM_025216.3(WNT10A):c.649G>A (p.Asp217Asn)
|
rs146902156
|
0.00067
|
NM_000059.4(BRCA2):c.-15A>C
|
rs138705202
|
0.00066
|
NM_001378030.1(CCDC78):c.196G>A (p.Val66Ile)
|
rs145112523
|
0.00066
|
NM_005529.7(HSPG2):c.7235G>A (p.Ser2412Asn)
|
rs146309392
|
0.00066
|
NM_007294.4(BRCA1):c.1427A>G (p.His476Arg)
|
rs55720177
|
0.00066
|
NM_007294.4(BRCA1):c.2733A>G (p.Gly911=)
|
rs1800740
|
0.00066
|
NM_198428.3(BBS9):c.2258A>T (p.Glu753Val)
|
rs61764068
|
0.00066
|
NM_000128.4(F11):c.901T>C (p.Phe301Leu)
|
rs121965064
|
0.00065
|
NM_000297.4(PKD2):c.1354A>G (p.Ile452Val)
|
rs1801612
|
0.00065
|
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu)
|
rs41276525
|
0.00065
|
NM_001009944.3(PKD1):c.3430G>A (p.Val1144Ile)
|
rs140991712
|
0.00065
|
NM_001382347.1(MYO5A):c.3377T>G (p.Phe1126Cys)
|
rs199984961
|
0.00065
|
NM_002491.3(NDUFB3):c.19C>T (p.His7Tyr)
|
rs144513268
|
0.00065
|
NM_003977.4(AIP):c.896C>T (p.Ala299Val)
|
rs148986773
|
0.00065
|
NM_006231.4(POLE):c.3046G>A (p.Val1016Met)
|
rs147692158
|
0.00065
|
NM_007194.4(CHEK2):c.-6G>A
|
rs376995740
|
0.00065
|
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile)
|
rs1800704
|
0.00065
|
NM_007294.4(BRCA1):c.981A>G (p.Thr327=)
|
rs1800063
|
0.00065
|
NM_015375.3(DSTYK):c.86G>A (p.Arg29Gln)
|
rs200780796
|
0.00065
|
NM_212482.4(FN1):c.4033G>A (p.Gly1345Ser)
|
rs184026566
|
0.00065
|
NM_000179.3(MSH6):c.663A>C (p.Glu221Asp)
|
rs41557217
|
0.00064
|
NM_004360.5(CDH1):c.2520C>T (p.Ser840=)
|
rs140328601
|
0.00064
|
NM_006206.6(PDGFRA):c.1325T>C (p.Leu442Pro)
|
rs139236922
|
0.00064
|
NM_007294.4(BRCA1):c.3302G>A (p.Ser1101Asn)
|
rs41293447
|
0.00064
|
NM_007294.4(BRCA1):c.4812A>G (p.Gln1604=)
|
rs28897693
|
0.00064
|
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter)
|
rs121965020
|
0.00063
|
NM_000260.4(MYO7A):c.3750+5G>A
|
rs111033391
|
0.00063
|
NM_001018115.3(FANCD2):c.3446C>T (p.Ala1149Val)
|
rs147675860
|
0.00063
|
NM_001164508.2(NEB):c.6088C>T (p.Leu2030Phe)
|
rs200251444
|
0.00063
|
NM_001360016.2(G6PD):c.582C>G (p.Asp194Glu)
|
rs145247580
|
0.00063
|
NM_004807.3(HS6ST1):c.1144C>T (p.Arg382Trp)
|
rs199538589
|
0.00063
|
NM_006231.4(POLE):c.4057A>G (p.Ser1353Gly)
|
rs141619382
|
0.00063
|
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr)
|
rs142358238
|
0.00062
|
NM_000249.4(MLH1):c.375A>G (p.Ala125=)
|
rs1800144
|
0.00062
|
NM_000543.5(SMPD1):c.340G>A (p.Val114Met)
|
rs142215226
|
0.00061
|
NM_000552.5(VWF):c.3868G>A (p.Glu1290Lys)
|
rs138900040
|
0.00061
|
NM_001009944.3(PKD1):c.4856C>T (p.Ser1619Phe)
|
rs146723506
|
0.00061
|
NM_001009944.3(PKD1):c.8161+5C>T
|
rs534696523
|
0.00061
|
NM_001303256.3(MORC2):c.2044G>A (p.Val682Ile)
|
rs144493873
|
0.00061
|
NM_002691.4(POLD1):c.581C>G (p.Ser194Cys)
|
rs144656348
|
0.00061
|
NM_006767.4(LZTR1):c.1723G>A (p.Asp575Asn)
|
rs139368531
|
0.00061
|
NM_007294.4(BRCA1):c.4992C>T (p.Leu1664=)
|
rs142459158
|
0.00061
|
NM_020041.3(SLC2A9):c.646G>A (p.Gly216Arg)
|
rs561633150
|
0.00061
|
NM_000455.5(STK11):c.945G>A (p.Pro315=)
|
rs376329042
|
0.00060
|
NM_000554.6(CRX):c.28C>G (p.His10Asp)
|
rs139340178
|
0.00060
|
NM_001448.3(GPC4):c.772C>T (p.Arg258Trp)
|
rs199910189
|
0.00060
|
NM_002691.4(POLD1):c.883G>A (p.Val295Met)
|
rs199545019
|
0.00060
|
NM_004168.4(SDHA):c.133G>A (p.Ala45Thr)
|
rs140736646
|
0.00060
|
NM_005422.4(TECTA):c.2444C>T (p.Thr815Met)
|
rs111759871
|
0.00060
|
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His)
|
rs28897677
|
0.00060
|
NM_032131.6(ARMC2):c.553A>G (p.Ile185Val)
|
rs143895116
|
0.00060
|
NC_000022.11:g.36799979C>T
|
rs73156247
|
0.00059
|
NM_000059.4(BRCA2):c.10121C>T (p.Thr3374Ile)
|
rs56309455
|
0.00059
|
NM_000059.4(BRCA2):c.4071A>C (p.Leu1357=)
|
rs140556653
|
0.00059
|
NM_000059.4(BRCA2):c.7617+39G>A
|
rs190660894
|
0.00059
|
NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys)
|
rs63750897
|
0.00059
|
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala)
|
rs146176004
|
0.00059
|
NM_001009944.3(PKD1):c.8111C>T (p.Ala2704Val)
|
rs200509641
|
0.00059
|
NM_001941.5(DSC3):c.2493+1G>A
|
rs139991809
|
0.00059
|
NM_000179.3(MSH6):c.1869C>T (p.Pro623=)
|
rs141242295
|
0.00058
|
NM_000208.4(INSR):c.1550A>G (p.Glu517Gly)
|
rs147671523
|
0.00058
|
NM_001009944.3(PKD1):c.2431C>G (p.Leu811Val)
|
rs137928037
|
0.00058
|
NM_001009944.3(PKD1):c.5318C>T (p.Thr1773Ile)
|
rs140162759
|
0.00058
|
NM_004329.3(BMPR1A):c.1419T>G (p.Val473=)
|
rs145756629
|
0.00058
|
NM_007294.4(BRCA1):c.5348T>C (p.Met1783Thr)
|
rs55808233
|
0.00058
|
NM_016239.4(MYO15A):c.7984C>G (p.Leu2662Val)
|
rs200930743
|
0.00058
|
NM_173076.3(ABCA12):c.5221C>T (p.Arg1741Cys)
|
rs141036904
|
0.00058
|
NM_000277.3(PAH):c.1208C>T (p.Ala403Val)
|
rs5030857
|
0.00057
|
NM_000349.3(STAR):c.179-14G>A
|
rs117578796
|
0.00057
|
NM_001009944.3(PKD1):c.11616G>A (p.Glu3872=)
|
rs370230612
|
0.00057
|
NM_001009944.3(PKD1):c.7429C>T (p.Arg2477Cys)
|
rs376283361
|
0.00057
|
NM_001142864.4(PIEZO1):c.4885G>A (p.Gly1629Arg)
|
rs533910472
|
0.00057
|
NM_001199799.2(ILDR1):c.461C>T (p.Ser154Leu)
|
rs115649165
|
0.00057
|
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser)
|
rs192766485
|
0.00057
|
NM_001355436.2(SPTB):c.2431G>A (p.Glu811Lys)
|
rs140584449
|
0.00057
|
NM_004064.5(CDKN1B):c.356T>C (p.Ile119Thr)
|
rs142833529
|
0.00057
|
NM_004360.5(CDH1):c.2439+10C>T
|
rs35236080
|
0.00057
|
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly)
|
rs148725540
|
0.00056
|
NM_000038.6(APC):c.4336G>A (p.Ala1446Thr)
|
rs146572883
|
0.00056
|
NM_000051.4(ATM):c.7313C>T (p.Thr2438Ile)
|
rs147604227
|
0.00056
|
NM_000057.4(BLM):c.968A>G (p.Lys323Arg)
|
rs146504061
|
0.00056
|
NM_000059.4(BRCA2):c.2145A>G (p.Gly715=)
|
rs112566179
|
0.00056
|
NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr)
|
rs17227396
|
0.00056
|
NM_001009944.3(PKD1):c.9156C>T (p.Gly3052=)
|
rs371368338
|
0.00056
|
NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys)
|
rs199692186
|
0.00056
|
NM_002074.5(GNB1):c.916+5G>A
|
rs185462709
|
0.00056
|
NM_004706.4(ARHGEF1):c.-17C>T
|
rs545895111
|
0.00056
|
NM_005544.3(IRS1):c.3406G>A (p.Glu1136Lys)
|
rs200142054
|
0.00056
|
NM_032427.4(MAML2):c.3025T>G (p.Phe1009Val)
|
rs182630516
|
0.00056
|
NM_001009944.3(PKD1):c.12139-5C>T
|
rs146430229
|
0.00055
|
NM_002016.2(FLG):c.1018G>C (p.Asp340His)
|
rs145070318
|
0.00055
|
NM_003977.4(AIP):c.807C>T (p.Phe269=)
|
rs139407567
|
0.00055
|
NM_032043.3(BRIP1):c.430G>A (p.Ala144Thr)
|
rs116952709
|
0.00055
|
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg)
|
rs28897712
|
0.00054
|
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn)
|
rs28897716
|
0.00054
|
NM_001009944.3(PKD1):c.8344G>A (p.Val2782Met)
|
rs151089809
|
0.00054
|
NM_001429.4(EP300):c.316A>G (p.Ser106Gly)
|
rs150245975
|
0.00054
|
NM_005245.4(FAT1):c.9583T>A (p.Tyr3195Asn)
|
rs146471129
|
0.00054
|
NM_007194.4(CHEK2):c.793-11G>A
|
rs5997387
|
0.00054
|
NM_007294.4(BRCA1):c.301+8T>C
|
rs80358101
|
0.00054
|
NM_153240.5(NPHP3):c.3281G>A (p.Arg1094Gln)
|
rs146890274
|
0.00054
|
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys)
|
rs34640941
|
0.00053
|
NM_000059.4(BRCA2):c.7435+6G>A
|
rs81002852
|
0.00053
|
NM_000251.3(MSH2):c.1563T>C (p.Tyr521=)
|
rs63750330
|
0.00053
|
NM_001009944.3(PKD1):c.11356G>C (p.Glu3786Gln)
|
rs147992238
|
0.00053
|
NM_002691.4(POLD1):c.1665C>T (p.Val555=)
|
rs150238541
|
0.00053
|
NM_006231.4(POLE):c.6495C>T (p.Arg2165=)
|
rs114778730
|
0.00053
|
NM_016239.4(MYO15A):c.3359G>A (p.Arg1120His)
|
rs200738532
|
0.00053
|
NM_080683.3(PTPN13):c.1012A>G (p.Arg338Gly)
|
rs190545482
|
0.00053
|
NM_133379.5(TTN):c.14812A>G (p.Met4938Val)
|
rs145581345
|
0.00053
|
NM_174916.3(UBR1):c.3290C>T (p.Thr1097Met)
|
rs142285781
|
0.00053
|
NM_198525.3(KIF7):c.461G>A (p.Arg154Gln)
|
rs180758272
|
0.00053
|
NM_000388.4(CASR):c.1192G>A (p.Asp398Asn)
|
rs201177696
|
0.00052
|
NM_002585.4(PBX1):c.92G>T (p.Gly31Val)
|
rs192264696
|
0.00052
|
NM_000051.4(ATM):c.8592C>T (p.Tyr2864=)
|
rs56025670
|
0.00051
|
NM_000136.3(FANCC):c.934A>G (p.Ile312Val)
|
rs1800366
|
0.00051
|
NM_000341.4(SLC3A1):c.1846G>A (p.Ala616Thr)
|
rs143740561
|
0.00051
|
NM_000369.5(TSHR):c.463A>T (p.Ile155Leu)
|
rs141293178
|
0.00051
|
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe)
|
rs200078204
|
0.00051
|
NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys)
|
rs138089183
|
0.00051
|
NM_001171613.2(PREPL):c.967A>G (p.Ile323Val)
|
rs143785426
|
0.00051
|
NM_002461.3(MVD):c.650C>G (p.Ala217Gly)
|
rs574614800
|
0.00051
|
NM_003738.5(PTCH2):c.1993C>T (p.Arg665Cys)
|
rs138324984
|
0.00051
|
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys)
|
rs140592056
|
0.00051
|
NM_004933.3(CDH15):c.365C>T (p.Ala122Val)
|
rs121434541
|
0.00051
|
NM_005245.4(FAT1):c.3874G>A (p.Glu1292Lys)
|
rs184443677
|
0.00051
|
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys)
|
rs77130927
|
0.00051
|
NM_032043.3(BRIP1):c.1935+11G>A
|
rs79121306
|
0.00051
|
NM_000207.3(INS):c.227G>A (p.Ser76Asn)
|
rs139264769
|
0.00050
|
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu)
|
rs45496496
|
0.00050
|
NM_001379451.1(BCORL1):c.2648G>A (p.Gly883Glu)
|
rs138477961
|
0.00050
|
NM_000497.4(CYP11B1):c.29G>A (p.Cys10Tyr)
|
rs6405
|
0.00049
|
NM_001009944.3(PKD1):c.768C>T (p.Ala256=)
|
rs548835442
|
0.00049
|
NM_001009944.3(PKD1):c.8129C>A (p.Thr2710Asn)
|
rs199700485
|
0.00049
|
NM_005529.7(HSPG2):c.11072C>T (p.Thr3691Ile)
|
rs149159881
|
0.00049
|
NM_006231.4(POLE):c.4730A>C (p.Glu1577Ala)
|
rs5744948
|
0.00049
|
NM_020754.4(ARHGAP31):c.3104C>T (p.Thr1035Ile)
|
rs201997376
|
0.00049
|
NM_000038.6(APC):c.295C>T (p.Arg99Trp)
|
rs139196838
|
0.00048
|
NM_000059.4(BRCA2):c.631+25C>T
|
rs367871824
|
0.00048
|
NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile)
|
rs28897744
|
0.00048
|
NM_000059.4(BRCA2):c.7994A>G (p.Asp2665Gly)
|
rs28897745
|
0.00048
|
NM_000059.4(BRCA2):c.9720T>C (p.Val3240=)
|
rs80359810
|
0.00048
|
NM_000179.3(MSH6):c.2667G>T (p.Gln889His)
|
rs149945495
|
0.00048
|
NM_000324.3(RHAG):c.1147C>A (p.Leu383Ile)
|
rs141051794
|
0.00048
|
NM_001009944.3(PKD1):c.4563T>C (p.Gly1521=)
|
rs143843155
|
0.00048
|
NM_001040108.2(MLH3):c.2911G>A (p.Val971Ile)
|
rs41555714
|
0.00048
|
NM_014043.4(CHMP2B):c.88A>G (p.Arg30Gly)
|
rs139894940
|
0.00048
|
NM_020928.2(ZSWIM6):c.1472A>G (p.Asn491Ser)
|
rs201912422
|
0.00048
|
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)
|
rs137852944
|
0.00048
|
NM_000059.4(BRCA2):c.9649-19G>A
|
rs11571830
|
0.00047
|
NM_000059.4(BRCA2):c.9843A>G (p.Pro3281=)
|
rs11571832
|
0.00047
|
NM_000455.5(STK11):c.1185A>G (p.Thr395=)
|
rs370207155
|
0.00047
|
NM_000478.6(ALPL):c.744C>T (p.Asp248=)
|
rs188689330
|
0.00047
|
NM_001009944.3(PKD1):c.6078C>T (p.Val2026=)
|
rs147253810
|
0.00047
|
NM_001172501.3(SLC6A2):c.1022+5G>C
|
rs200194488
|
0.00047
|
NM_001374736.1(DST):c.224G>A (p.Arg75Lys)
|
rs563479643
|
0.00047
|
NM_001395656.1(ROBO2):c.3267G>A (p.Thr1089=)
|
rs200783298
|
0.00047
|
NM_001447.3(FAT2):c.8206A>G (p.Lys2736Glu)
|
rs570674049
|
0.00047
|
NM_002485.5(NBN):c.628G>T (p.Val210Phe)
|
rs61754796
|
0.00047
|
NM_016239.4(MYO15A):c.3203G>T (p.Cys1068Phe)
|
rs189061214
|
0.00047
|
NM_198834.3(ACACA):c.3132C>G (p.Asp1044Glu)
|
rs140628687
|
0.00047
|
NM_000051.4(ATM):c.1986T>C (p.Phe662=)
|
rs1800055
|
0.00046
|
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala)
|
rs140856217
|
0.00046
|
NM_000059.4(BRCA2):c.7976+45G>C
|
rs11571718
|
0.00046
|
NM_000136.3(FANCC):c.672C>T (p.Asn224=)
|
rs150647141
|
0.00046
|
NM_000136.3(FANCC):c.705C>T (p.Pro235=)
|
rs141828876
|
0.00046
|
NM_000251.3(MSH2):c.815C>T (p.Ala272Val)
|
rs34136999
|
0.00046
|
NM_001457.4(FLNB):c.4495G>A (p.Asp1499Asn)
|
rs150445941
|
0.00046
|
NM_002691.4(POLD1):c.2103C>T (p.Tyr701=)
|
rs201483538
|
0.00046
|
NM_004947.5(DOCK3):c.2048G>A (p.Arg683Gln)
|
rs201425737
|
0.00046
|
NM_006231.4(POLE):c.1337G>A (p.Arg446Gln)
|
rs151273553
|
0.00046
|
NM_007294.4(BRCA1):c.2566T>C (p.Tyr856His)
|
rs80356892
|
0.00046
|
NM_024741.3(ZNF408):c.743A>G (p.Asp248Gly)
|
rs146037342
|
0.00046
|
NM_057175.5(NAA15):c.850T>G (p.Trp284Gly)
|
rs202230897
|
0.00046
|
NM_207361.6(FREM2):c.4960A>C (p.Ser1654Arg)
|
rs114595447
|
0.00046
|
NM_000059.4(BRCA2):c.7976+12G>A
|
rs81002827
|
0.00045
|
NM_000271.5(NPC1):c.873G>T (p.Trp291Cys)
|
rs138151007
|
0.00045
|
NM_001009944.3(PKD1):c.10654G>T (p.Ala3552Ser)
|
rs141670808
|
0.00045
|
NM_001048174.2(MUTYH):c.914-9C>T
|
rs3219488
|
0.00045
|
NM_001394954.1(CCDC158):c.3301C>A (p.Gln1101Lys)
|
rs200464150
|
0.00045
|
NM_002691.4(POLD1):c.2052G>C (p.Gln684His)
|
rs144143245
|
0.00045
|
NM_002691.4(POLD1):c.653G>A (p.Arg218His)
|
rs150010804
|
0.00045
|
NM_003467.3(CXCR4):c.157A>C (p.Ile53Leu)
|
rs56400844
|
0.00045
|
NM_004360.5(CDH1):c.1744C>T (p.Leu582=)
|
rs1801025
|
0.00045
|
NM_016204.4(GDF2):c.871G>A (p.Gly291Ser)
|
rs201711410
|
0.00045
|
NM_021964.3(ZNF148):c.1871A>G (p.Asn624Ser)
|
rs142424101
|
0.00045
|
NM_022725.4(FANCF):c.633G>T (p.Gln211His)
|
rs146975768
|
0.00045
|
NM_000051.4(ATM):c.3342G>A (p.Lys1114=)
|
rs138393322
|
0.00044
|
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg)
|
rs28897728
|
0.00044
|
NM_000375.3(UROS):c.22G>A (p.Asp8Asn)
|
rs558929395
|
0.00044
|
NM_001009944.3(PKD1):c.9718G>A (p.Ala3240Thr)
|
rs143312683
|
0.00044
|
NM_001048174.2(MUTYH):c.11C>T (p.Pro4Leu)
|
rs79777494
|
0.00044
|
NM_001048174.2(MUTYH):c.264+11G>A
|
rs139977567
|
0.00044
|
NM_001048174.2(MUTYH):c.32G>A (p.Gly11Asp)
|
rs75321043
|
0.00044
|
NM_001318789.2(TLR2):c.2296A>G (p.Met766Val)
|
rs182578104
|
0.00044
|
NM_001563.4(IMPG1):c.631G>A (p.Asp211Asn)
|
rs140678692
|
0.00044
|
NM_002016.2(FLG):c.8635G>C (p.Glu2879Gln)
|
rs148926091
|
0.00044
|
NM_002485.5(NBN):c.1720T>A (p.Leu574Ile)
|
rs142334798
|
0.00044
|
NM_022124.6(CDH23):c.5038G>A (p.Val1680Ile)
|
rs201364852
|
0.00044
|
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys)
|
rs200179145
|
0.00044
|
NM_000081.4(LYST):c.3208A>G (p.Ile1070Val)
|
rs150321124
|
0.00043
|
NM_000251.3(MSH2):c.1680T>C (p.Asn560=)
|
rs200056411
|
0.00043
|
NM_001048174.2(MUTYH):c.1365C>T (p.Thr455=)
|
rs150269172
|
0.00043
|
NM_001358530.2(MOCS1):c.1015C>T (p.Arg339Trp)
|
rs148579886
|
0.00043
|
NM_004752.4(GCM2):c.319G>A (p.Asp107Asn)
|
rs61741855
|
0.00043
|
NM_021922.3(FANCE):c.1333C>T (p.Pro445Ser)
|
rs141551053
|
0.00043
|
NM_152393.4(KLHL40):c.968T>G (p.Ile323Ser)
|
rs146161469
|
0.00043
|
NM_177438.3(DICER1):c.4206+11_4206+13del
|
rs752585711
|
0.00043
|
NM_000186.4(CFH):c.1825G>A (p.Val609Ile)
|
rs148165372
|
0.00042
|
NM_000251.3(MSH2):c.1886A>G (p.Gln629Arg)
|
rs61756468
|
0.00042
|
NM_001039141.3(TRIOBP):c.4666G>A (p.Glu1556Lys)
|
rs376793698
|
0.00042
|
NM_001273.5(CHD4):c.5002G>C (p.Glu1668Gln)
|
rs201047688
|
0.00042
|
NM_005562.3(LAMC2):c.599C>A (p.Ala200Glu)
|
rs138266625
|
0.00042
|
NM_006348.5(COG5):c.361A>C (p.Ile121Leu)
|
rs138976539
|
0.00042
|
NM_007294.4(BRCA1):c.-20+11C>T
|
rs273898672
|
0.00042
|
NM_015450.3(POT1):c.1127A>G (p.Gln376Arg)
|
rs143635917
|
0.00042
|
NM_016464.5(TMEM138):c.247A>G (p.Ile83Val)
|
rs200399046
|
0.00042
|
NM_022356.4(P3H1):c.2055+112G>A
|
rs146002380
|
0.00042
|
NM_023110.3(FGFR1):c.899T>C (p.Ile300Thr)
|
rs121909633
|
0.00042
|
NM_173477.5(USH1G):c.837C>G (p.Asp279Glu)
|
rs142486910
|
0.00042
|
NM_000038.6(APC):c.2322C>T (p.Asp774=)
|
rs145792879
|
0.00041
|
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val)
|
rs138417003
|
0.00041
|
NM_000249.4(MLH1):c.702G>A (p.Glu234=)
|
rs35908749
|
0.00041
|
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)
|
rs140455771
|
0.00041
|
NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met)
|
rs144079536
|
0.00041
|
NM_001085377.2(MCC):c.745G>A (p.Glu249Lys)
|
rs202120785
|
0.00041
|
NM_001101648.2(NPC1L1):c.570C>T (p.Gly190=)
|
rs201068177
|
0.00041
|
NM_001377.3(DYNC2H1):c.6769G>A (p.Gly2257Ser)
|
rs199897162
|
0.00041
|
NM_001384474.1(LOXHD1):c.722A>G (p.Asn241Ser)
|
rs191697915
|
0.00041
|
NM_002691.4(POLD1):c.1932C>G (p.Asp644Glu)
|
rs80214209
|
0.00041
|
NM_002691.4(POLD1):c.3068-14C>T
|
rs3218758
|
0.00041
|
NM_002878.4(RAD51D):c.932T>A (p.Ile311Asn)
|
rs145309168
|
0.00041
|
NM_006901.4(MYO9A):c.3326G>A (p.Arg1109Lys)
|
rs137861492
|
0.00041
|
NM_006901.4(MYO9A):c.6939T>G (p.Ser2313Arg)
|
rs138603795
|
0.00041
|
NM_014467.3(SRPX2):c.980A>G (p.Asn327Ser)
|
rs121918363
|
0.00041
|
NM_015102.5(NPHP4):c.1850C>T (p.Ala617Val)
|
rs190522911
|
0.00041
|
NM_020117.11(LARS1):c.1369C>T (p.Arg457Trp)
|
rs151245897
|
0.00041
|
NM_020717.5(SHROOM4):c.2453G>A (p.Cys818Tyr)
|
rs138676318
|
0.00041
|
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His)
|
rs45589637
|
0.00041
|
NM_152703.5(SAMD9L):c.2069G>A (p.Gly690Asp)
|
rs147903234
|
0.00041
|
NM_000038.6(APC):c.2805C>T (p.Tyr935=)
|
rs137854575
|
0.00040
|
NM_000249.4(MLH1):c.198C>T (p.Thr66=)
|
rs61751642
|
0.00040
|
NM_001009944.3(PKD1):c.10240G>A (p.Gly3414Ser)
|
rs371762181
|
0.00040
|
NM_001009944.3(PKD1):c.7866C>T (p.Tyr2622=)
|
rs181130940
|
0.00040
|
NM_002016.2(FLG):c.1020T>A (p.Asp340Glu)
|
rs140261784
|
0.00040
|
NM_199420.4(POLQ):c.1138G>C (p.Val380Leu)
|
rs143855278
|
0.00040
|
NM_000190.4(HMBS):c.1075G>A (p.Asp359Asn)
|
rs144949995
|
0.00039
|
NM_000251.3(MSH2):c.1168C>T (p.Leu390Phe)
|
rs17224367
|
0.00039
|
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val)
|
rs150212784
|
0.00039
|
NM_000535.7(PMS2):c.1560G>A (p.Ala520=)
|
rs201167814
|
0.00039
|
NM_001009944.3(PKD1):c.-62C>T
|
rs889397886
|
0.00039
|
NM_001009944.3(PKD1):c.11015G>A (p.Arg3672Gln)
|
rs201220835
|
0.00039
|
NM_001009944.3(PKD1):c.12253C>T (p.Leu4085=)
|
rs199674888
|
0.00039
|
NM_001009944.3(PKD1):c.6606G>A (p.Ala2202=)
|
rs367600795
|
0.00039
|
NM_005373.3(MPL):c.1102G>T (p.Val368Leu)
|
rs149810307
|
0.00039
|
NM_007294.4(BRCA1):c.301+146A>C
|
rs571713225
|
0.00039
|
NM_014915.3(ANKRD26):c.679C>T (p.Pro227Ser)
|
rs201638257
|
0.00039
|
NM_024408.4(NOTCH2):c.1804G>A (p.Ala602Thr)
|
rs140311741
|
0.00039
|
NM_138694.4(PKHD1):c.334G>A (p.Gly112Arg)
|
rs149841071
|
0.00039
|
NM_182476.3(COQ6):c.449A>G (p.His150Arg)
|
rs144880038
|
0.00039
|
NM_199420.4(POLQ):c.3802G>A (p.Val1268Ile)
|
rs142531238
|
0.00039
|
NM_000051.4(ATM):c.6795C>T (p.Phe2265=)
|
rs3218699
|
0.00038
|
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg)
|
rs55801750
|
0.00038
|
NM_000245.4(MET):c.901A>G (p.Thr301Ala)
|
rs201687037
|
0.00038
|
NM_001377265.1(MAPT):c.889C>A (p.Arg297Ser)
|
rs150983093
|
0.00038
|
NM_004260.4(RECQL4):c.3055+5G>A
|
rs377031190
|
0.00038
|
NM_005245.4(FAT1):c.6782C>T (p.Thr2261Met)
|
rs189912205
|
0.00038
|
NM_005591.4(MRE11):c.1727G>A (p.Arg576Gln)
|
rs139461096
|
0.00038
|
NM_006231.4(POLE):c.2026+9C>T
|
rs373790607
|
0.00038
|
NM_019066.5(MAGEL2):c.41C>A (p.Pro14Gln)
|
rs769643348
|
0.00038
|
NM_032119.4(ADGRV1):c.15608A>G (p.Glu5203Gly)
|
rs202106463
|
0.00038
|
NM_000179.3(MSH6):c.1449G>T (p.Val483=)
|
rs35590297
|
0.00037
|
NM_000179.3(MSH6):c.1932G>C (p.Arg644Ser)
|
rs34938432
|
0.00037
|
NM_001005271.3(CHD3):c.251C>T (p.Pro84Leu)
|
rs766660828
|
0.00037
|
NM_001039141.3(TRIOBP):c.709C>T (p.Arg237Trp)
|
rs144995033
|
0.00037
|
NM_002878.4(RAD51D):c.26G>C (p.Cys9Ser)
|
rs140825795
|
0.00037
|
NM_003620.4(PPM1D):c.131C>G (p.Ser44Trp)
|
rs373862041
|
0.00037
|
NM_003977.4(AIP):c.26G>A (p.Arg9Gln)
|
rs139459091
|
0.00037
|
NM_004385.5(VCAN):c.5947A>T (p.Ile1983Leu)
|
rs145891745
|
0.00037
|
NM_014915.3(ANKRD26):c.4490T>A (p.Val1497Asp)
|
rs149647444
|
0.00037
|
NM_000038.6(APC):c.6857C>T (p.Ala2286Val)
|
rs200587641
|
0.00036
|
NM_000179.3(MSH6):c.2561A>T (p.Lys854Met)
|
rs34374438
|
0.00036
|
NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys)
|
rs199669878
|
0.00036
|
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)
|
rs62642937
|
0.00036
|
NM_000494.4(COL17A1):c.316C>T (p.Arg106Cys)
|
rs146267259
|
0.00036
|
NM_001009944.3(PKD1):c.3495C>T (p.Asp1165=)
|
rs375384742
|
0.00036
|
NM_001009944.3(PKD1):c.871G>T (p.Ala291Ser)
|
rs199693673
|
0.00036
|
NM_001184.4(ATR):c.2704T>C (p.Ser902Pro)
|
rs146202702
|
0.00036
|
NM_001349253.2(SCN11A):c.1257G>T (p.Lys419Asn)
|
rs150269814
|
0.00036
|
NM_002778.4(PSAP):c.578A>G (p.Asp193Gly)
|
rs138636858
|
0.00036
|
NM_003661.4(APOL1):c.797T>G (p.Leu266Arg)
|
rs142955744
|
0.00036
|
NM_005199.5(CHRNG):c.507-12G>A
|
rs184423691
|
0.00036
|
NM_005751.5(AKAP9):c.10249C>T (p.Arg3417Cys)
|
rs146495719
|
0.00036
|
NM_005850.5(SF3B4):c.915G>T (p.Gly305=)
|
rs370887294
|
0.00036
|
NM_016239.4(MYO15A):c.3659G>A (p.Gly1220Glu)
|
rs201689819
|
0.00036
|
NM_021012.5(KCNJ12):c.792G>A (p.Leu264=)
|
rs111301613
|
0.00036
|
NM_138691.3(TMC1):c.46G>A (p.Glu16Lys)
|
rs140437301
|
0.00036
|
NM_198994.3(TGM6):c.115A>T (p.Ser39Cys)
|
rs144201778
|
0.00036
|
NM_199420.4(POLQ):c.7259A>G (p.Tyr2420Cys)
|
rs150364457
|
0.00036
|
NM_199420.4(POLQ):c.7393G>A (p.Glu2465Lys)
|
rs3218635
|
0.00036
|
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe)
|
rs56009889
|
0.00035
|
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser)
|
rs190598500
|
0.00035
|
NM_000222.3(KIT):c.821C>T (p.Thr274Met)
|
rs138585275
|
0.00035
|
NM_000277.3(PAH):c.299A>G (p.His100Arg)
|
rs148393887
|
0.00035
|
NM_000369.5(TSHR):c.2161G>T (p.Val721Phe)
|
rs61745409
|
0.00035
|
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro)
|
rs80338848
|
0.00035
|
NM_001009944.3(PKD1):c.5783C>G (p.Pro1928Arg)
|
rs201991587
|
0.00035
|
NM_001048174.2(MUTYH):c.850-2A>G
|
rs77542170
|
0.00035
|
NM_001080414.4(CCDC88C):c.4375G>A (p.Asp1459Asn)
|
rs78570354
|
0.00035
|
NM_001109809.5(ZFP57):c.1604A>G (p.His535Arg)
|
rs79455213
|
0.00035
|
NM_002272.4(KRT4):c.766G>A (p.Val256Met)
|
rs201754946
|
0.00035
|
NM_013275.6(ANKRD11):c.6797C>T (p.Ala2266Val)
|
rs748996527
|
0.00035
|
NM_024675.4(PALB2):c.1470C>T (p.Pro490=)
|
rs45612837
|
0.00035
|
NM_030665.4(RAI1):c.516C>A (p.His172Gln)
|
rs147481626
|
0.00035
|
NM_032444.4(SLX4):c.5248G>T (p.Ala1750Ser)
|
rs771897046
|
0.00035
|
NM_032608.7(MYO18B):c.7151G>A (p.Arg2384Lys)
|
rs369430638
|
0.00035
|
NM_138694.4(PKHD1):c.325G>A (p.Ala109Thr)
|
rs143979330
|
0.00035
|
NM_000038.6(APC):c.607C>G (p.Gln203Glu)
|
rs141576417
|
0.00034
|
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro)
|
rs139552233
|
0.00034
|
NM_000213.5(ITGB4):c.469+5G>A
|
rs141369871
|
0.00034
|
NM_000222.3(KIT):c.878A>G (p.Asn293Ser)
|
rs137909416
|
0.00034
|
NM_000446.7(PON1):c.376G>A (p.Ala126Thr)
|
rs148785172
|
0.00034
|
NM_000534.5(PMS1):c.500A>G (p.Asp167Gly)
|
rs200244068
|
0.00034
|
NM_001009944.3(PKD1):c.10434C>T (p.Ala3478=)
|
rs373880615
|
0.00034
|
NM_002474.3(MYH11):c.472G>A (p.Ala158Thr)
|
rs375998236
|
0.00034
|
NM_003659.4(AGPS):c.148C>T (p.Arg50Trp)
|
rs778087162
|
0.00034
|
NM_004456.5(EZH2):c.657T>C (p.Pro219=)
|
rs148843424
|
0.00034
|
NM_004900.5(APOBEC3B):c.631C>T (p.Arg211Trp)
|
rs200770515
|
0.00034
|
NM_005245.4(FAT1):c.9130C>A (p.Gln3044Lys)
|
rs201737827
|
0.00034
|
NM_005609.4(PYGM):c.1859T>C (p.Ile620Thr)
|
rs142008108
|
0.00034
|
NM_006231.4(POLE):c.4246G>A (p.Ala1416Thr)
|
rs146711942
|
0.00034
|
NM_007194.4(CHEK2):c.1176G>A (p.Ala392=)
|
rs142692907
|
0.00034
|
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr)
|
rs200050883
|
0.00034
|
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu)
|
rs55906931
|
0.00034
|
NM_014244.5(ADAMTS2):c.3195C>T (p.Gly1065=)
|
rs778572930
|
0.00034
|
NM_018249.6(CDK5RAP2):c.2636A>G (p.Glu879Gly)
|
rs199766241
|
0.00034
|
NM_021870.3(FGG):c.124G>A (p.Gly42Ser)
|
rs202132393
|
0.00034
|
NM_024009.3(GJB3):c.223C>T (p.Arg75Cys)
|
rs370476720
|
0.00034
|
NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys)
|
rs28997571
|
0.00034
|
NM_153490.3(KRT13):c.760G>C (p.Val254Leu)
|
rs565217320
|
0.00034
|
NM_000033.4(ABCD1):c.1810G>A (p.Val604Ile)
|
rs151201945
|
0.00033
|
NM_000136.3(FANCC):c.*5C>T
|
rs117175949
|
0.00033
|
NM_000251.3(MSH2):c.2154A>G (p.Gln718=)
|
rs63750810
|
0.00033
|
NM_001009944.3(PKD1):c.8118C>T (p.Thr2706=)
|
rs375408086
|
0.00033
|
NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val)
|
rs121912714
|
0.00033
|
NM_001145809.2(MYH14):c.1427G>A (p.Arg476His)
|
rs375694189
|
0.00033
|
NM_001288705.3(CSF1R):c.2746G>A (p.Glu916Lys)
|
rs142435467
|
0.00033
|
NM_002485.5(NBN):c.425A>G (p.Asn142Ser)
|
rs769414
|
0.00033
|
NM_005236.3(ERCC4):c.217A>G (p.Ile73Val)
|
rs141591400
|
0.00033
|
NM_015102.5(NPHP4):c.944C>T (p.Thr315Met)
|
rs200684272
|
0.00033
|
NM_000059.4(BRCA2):c.223G>C (p.Ala75Pro)
|
rs28897701
|
0.00032
|
NM_000059.4(BRCA2):c.8187G>T (p.Lys2729Asn)
|
rs80359065
|
0.00032
|
NM_000179.3(MSH6):c.3488A>T (p.Glu1163Val)
|
rs63750252
|
0.00032
|
NM_000535.7(PMS2):c.988+11T>C
|
rs139969671
|
0.00032
|
NM_000719.7(CACNA1C):c.6161A>G (p.Lys2054Arg)
|
rs200588235
|
0.00032
|
NM_000789.4(ACE):c.3108C>A (p.Asn1036Lys)
|
rs142947404
|
0.00032
|
NM_001009944.3(PKD1):c.7490-10C>T
|
rs201304767
|
0.00032
|
NM_001009944.3(PKD1):c.951T>C (p.Ala317=)
|
rs540366995
|
0.00032
|
NM_001040108.2(MLH3):c.2449A>G (p.Ser817Gly)
|
rs143278116
|
0.00032
|
NM_001139.3(ALOX12B):c.583T>C (p.Phe195Leu)
|
rs200516538
|
0.00032
|
NM_005732.4(RAD50):c.2647C>T (p.Arg883Cys)
|
rs138749920
|
0.00032
|
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)
|
rs142763740
|
0.00032
|
NM_007294.4(BRCA1):c.1036C>T (p.Pro346Ser)
|
rs80357015
|
0.00032
|
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln)
|
rs28937873
|
0.00032
|
NM_016239.4(MYO15A):c.730G>A (p.Asp244Asn)
|
rs199899548
|
0.00032
|
NM_021930.6(RINT1):c.532T>C (p.Tyr178His)
|
rs139565013
|
0.00032
|
NM_201384.3(PLEC):c.10105G>T (p.Val3369Leu)
|
rs201373953
|
0.00032
|
NM_207361.6(FREM2):c.560C>T (p.Pro187Leu)
|
rs200691357
|
0.00032
|
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val)
|
rs79538375
|
0.00031
|
NM_000251.3(MSH2):c.435T>G (p.Ile145Met)
|
rs63750124
|
0.00031
|
NM_000876.4(IGF2R):c.3753C>T (p.Ser1251=)
|
rs147617407
|
0.00031
|
NM_001009944.3(PKD1):c.11652C>T (p.Ser3884=)
|
rs377436997
|
0.00031
|
NM_001009944.3(PKD1):c.5363G>A (p.Gly1788Asp)
|
rs201778279
|
0.00031
|
NM_001039141.3(TRIOBP):c.6556G>A (p.Gly2186Ser)
|
rs191901426
|
0.00031
|
NM_001048174.2(MUTYH):c.1392+2C>T
|
rs140288388
|
0.00031
|
NM_001164508.2(NEB):c.6817A>G (p.Lys2273Glu)
|
rs199700878
|
0.00031
|
NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser)
|
rs145172612
|
0.00031
|
NM_002691.4(POLD1):c.3121-14G>A
|
rs367766963
|
0.00031
|
NM_003126.4(SPTA1):c.3839A>G (p.Asp1280Gly)
|
rs200890386
|
0.00031
|
NM_004260.4(RECQL4):c.2967G>A (p.Met989Ile)
|
rs200018416
|
0.00031
|
NM_004628.5(XPC):c.2404G>A (p.Gly802Ser)
|
rs200148127
|
0.00031
|
NM_005529.7(HSPG2):c.83C>T (p.Ala28Val)
|
rs754643779
|
0.00031
|
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys)
|
rs28897687
|
0.00031
|
NM_014363.6(SACS):c.2580A>G (p.Gln860=)
|
rs41283958
|
0.00031
|
NM_017436.7(A4GALT):c.892G>T (p.Asp298Tyr)
|
rs200414851
|
0.00031
|
NM_021930.6(RINT1):c.1025T>C (p.Met342Thr)
|
rs140651827
|
0.00031
|
NM_025114.4(CEP290):c.5185C>T (p.Arg1729Trp)
|
rs201353893
|
0.00031
|
NM_183235.3(RAB27A):c.418C>G (p.Gln140Glu)
|
rs150463407
|
0.00031
|
NM_000051.4(ATM):c.4949A>G (p.Asn1650Ser)
|
rs55870064
|
0.00030
|
NM_000051.4(ATM):c.7174C>T (p.Arg2392Trp)
|
rs149827260
|
0.00030
|
NM_000210.4(ITGA6):c.1850T>C (p.Ile617Thr)
|
rs148815652
|
0.00030
|
NM_001009944.3(PKD1):c.2707A>G (p.Ser903Gly)
|
rs4018172
|
0.00030
|
NM_001142800.2(EYS):c.1082T>C (p.Ile361Thr)
|
rs201059400
|
0.00030
|
NM_001379081.2(FREM1):c.4945A>G (p.Ile1649Val)
|
rs199891537
|
0.00030
|
NM_002485.5(NBN):c.1690G>A (p.Glu564Lys)
|
rs72550742
|
0.00030
|
NM_015294.6(TRIM37):c.1357T>A (p.Leu453Met)
|
rs200578021
|
0.00030
|
NM_031418.4(ANO3):c.1231A>G (p.Ile411Val)
|
rs767864233
|
0.00030
|
NM_153676.4(USH1C):c.1858C>T (p.Arg620Cys)
|
rs143160805
|
0.00030
|
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His)
|
rs201666889
|
0.00029
|
NM_000251.3(MSH2):c.471C>A (p.Gly157=)
|
rs61756463
|
0.00029
|
NM_000465.4(BARD1):c.1515G>T (p.Gly505=)
|
rs139721211
|
0.00029
|
NM_000465.4(BARD1):c.346C>T (p.His116Tyr)
|
rs144856889
|
0.00029
|
NM_001009944.3(PKD1):c.7937T>C (p.Ile2646Thr)
|
rs374500158
|
0.00029
|
NM_001009944.3(PKD1):c.8618C>T (p.Thr2873Ile)
|
rs148378229
|
0.00029
|
NM_002354.3(EPCAM):c.577A>G (p.Ile193Val)
|
rs200676965
|
0.00029
|
NM_002691.4(POLD1):c.961G>A (p.Gly321Ser)
|
rs41554817
|
0.00029
|
NM_005529.7(HSPG2):c.8899G>A (p.Ala2967Thr)
|
rs143274889
|
0.00029
|
NM_006231.4(POLE):c.5496T>C (p.Leu1832=)
|
rs147543146
|
0.00029
|
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His)
|
rs56012641
|
0.00029
|
NM_007294.4(BRCA1):c.2368A>G (p.Thr790Ala)
|
rs41286298
|
0.00029
|
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys)
|
rs56187033
|
0.00029
|
NM_012285.3(KCNH4):c.1532G>A (p.Arg511His)
|
rs201523967
|
0.00029
|
NM_014515.7(CNOT2):c.710A>G (p.Asn237Ser)
|
rs201309251
|
0.00029
|
NM_020863.4(ZFAT):c.442G>C (p.Glu148Gln)
|
rs202134657
|
0.00029
|
NM_133379.5(TTN):c.13364A>G (p.Lys4455Arg)
|
rs142304137
|
0.00029
|
NM_175614.5(NDUFA11):c.138G>A (p.Pro46=)
|
rs138889960
|
0.00029
|
NM_182961.4(SYNE1):c.8546T>C (p.Val2849Ala)
|
rs375079396
|
0.00029
|
NM_000038.6(APC):c.3511C>T (p.Arg1171Cys)
|
rs201830995
|
0.00028
|
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala)
|
rs28940279
|
0.00028
|
NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser)
|
rs146531614
|
0.00028
|
NM_000059.4(BRCA2):c.425+33A>G
|
rs200065709
|
0.00028
|
NM_000136.3(FANCC):c.973G>A (p.Ala325Thr)
|
rs201407189
|
0.00028
|
NM_000137.4(FAH):c.1062+5G>A
|
rs80338901
|
0.00028
|
NM_000168.6(GLI3):c.2119C>T (p.Pro707Ser)
|
rs121917716
|
0.00028
|
NM_000179.3(MSH6):c.3217C>T (p.Pro1073Ser)
|
rs142254875
|
0.00028
|
NM_000297.4(PKD2):c.1546G>T (p.Val516Leu)
|
rs143581690
|
0.00028
|
NM_000360.4(TH):c.67G>A (p.Ala23Thr)
|
rs201081519
|
0.00028
|
NM_000553.6(WRN):c.1909C>T (p.Arg637Trp)
|
rs148286708
|
0.00028
|
NM_000553.6(WRN):c.3259A>G (p.Lys1087Glu)
|
rs374154973
|
0.00028
|
NM_001112741.2(KCNC1):c.677A>T (p.Asn226Ile)
|
rs73424032
|
0.00028
|
NM_001371928.1(AHDC1):c.4603G>A (p.Ala1535Thr)
|
rs193153262
|
0.00028
|
NM_001754.5(RUNX1):c.155T>A (p.Met52Lys)
|
rs200431130
|
0.00028
|
NM_002439.5(MSH3):c.356C>T (p.Ser119Phe)
|
rs144607594
|
0.00028
|
NM_002878.4(RAD51D):c.216C>T (p.Tyr72=)
|
rs148690585
|
0.00028
|
NM_004360.5(CDH1):c.892G>A (p.Ala298Thr)
|
rs142822590
|
0.00028
|
NM_006231.4(POLE):c.2510T>C (p.Phe837Ser)
|
rs139182500
|
0.00028
|
NM_006567.5(FARS2):c.667C>T (p.Arg223Cys)
|
rs202060864
|
0.00028
|
NM_007294.4(BRCA1):c.548-17G>T
|
rs80358014
|
0.00028
|
NM_015978.3(TNNI3K):c.827+4A>C
|
rs200118272
|
0.00028
|
NM_138715.3(MSR1):c.919G>T (p.Asp307Tyr)
|
rs142534680
|
0.00028
|
NM_207118.3(GTF2H5):c.167G>A (p.Arg56Gln)
|
rs181096841
|
0.00028
|
NM_000407.5(GP1BB):c.143C>T (p.Ser48Leu)
|
rs536874549
|
0.00027
|
NM_000455.5(STK11):c.*8C>T
|
rs587782259
|
0.00027
|
NM_001009944.3(PKD1):c.2527T>C (p.Ser843Pro)
|
rs181738771
|
0.00027
|
NM_001267550.2(TTN):c.61409T>C (p.Ile20470Thr)
|
rs202012910
|
0.00027
|
NM_001283009.2(RTEL1):c.2470C>T (p.Pro824Ser)
|
rs138188555
|
0.00027
|
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser)
|
rs104895032
|
0.00027
|
NM_003749.3(IRS2):c.3983A>G (p.His1328Arg)
|
rs140969440
|
0.00027
|
NM_004360.5(CDH1):c.303C>T (p.Tyr101=)
|
rs150789339
|
0.00027
|
NM_004369.4(COL6A3):c.3445C>T (p.Arg1149Trp)
|
rs113360085
|
0.00027
|
NM_005245.4(FAT1):c.10478C>T (p.Pro3493Leu)
|
rs200357548
|
0.00027
|
NM_006231.4(POLE):c.4941C>T (p.Phe1647=)
|
rs145639967
|
0.00027
|
NM_007294.4(BRCA1):c.3713C>T (p.Pro1238Leu)
|
rs28897688
|
0.00027
|
NM_012082.4(ZFPM2):c.1871C>G (p.Ser624Cys)
|
rs34248551
|
0.00027
|
NM_020937.4(FANCM):c.4366C>T (p.Arg1456Cys)
|
rs200360968
|
0.00027
|
NM_130797.4(DPP6):c.58G>A (p.Ala20Thr)
|
rs2533731
|
0.00027
|
NM_173651.4(FSIP2):c.4597T>A (p.Ser1533Thr)
|
rs200352552
|
0.00027
|
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr)
|
rs35963548
|
0.00026
|
NM_000051.4(ATM):c.4362A>C (p.Lys1454Asn)
|
rs148993589
|
0.00026
|
NM_000059.4(BRCA2):c.1395A>C (p.Val465=)
|
rs11571641
|
0.00026
|
NM_000059.4(BRCA2):c.2208A>G (p.Ala736=)
|
rs144984153
|
0.00026
|
NM_000059.4(BRCA2):c.2412A>G (p.Glu804=)
|
rs587780866
|
0.00026
|
NM_000059.4(BRCA2):c.4584C>T (p.Ser1528=)
|
rs80359788
|
0.00026
|
NM_000059.4(BRCA2):c.4686A>G (p.Gln1562=)
|
rs28897730
|
0.00026
|
NM_000059.4(BRCA2):c.516+14C>T
|
rs182828913
|
0.00026
|
NM_000059.4(BRCA2):c.6853A>G (p.Ile2285Val)
|
rs56272235
|
0.00026
|
NM_000059.4(BRCA2):c.9292T>C (p.Tyr3098His)
|
rs41293521
|
0.00026
|
NM_000179.3(MSH6):c.4002-10T>A
|
rs545466048
|
0.00026
|
NM_000297.4(PKD2):c.595+15C>T
|
rs559555727
|
0.00026
|
NM_000312.4(PROC):c.565C>T (p.Arg189Trp)
|
rs146922325
|
0.00026
|
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser)
|
rs200513014
|
0.00026
|
NM_000539.3(RHO):c.919A>T (p.Ile307Phe)
|
rs771322615
|
0.00026
|
NM_001009944.3(PKD1):c.5648C>T (p.Ala1883Val)
|
rs779745348
|
0.00026
|
NM_001256071.3(RNF213):c.4645C>A (p.Gln1549Lys)
|
rs565004625
|
0.00026
|
NM_001752.4(CAT):c.1518+6C>G
|
rs200858410
|
0.00026
|
NM_003482.4(KMT2D):c.6437C>T (p.Pro2146Leu)
|
rs563981206
|
0.00026
|
NM_004360.5(CDH1):c.2413G>A (p.Asp805Asn)
|
rs200894246
|
0.00026
|
NM_005245.4(FAT1):c.2236A>G (p.Thr746Ala)
|
rs372906523
|
0.00026
|
NM_005732.4(RAD50):c.1094G>A (p.Arg365Gln)
|
rs146370443
|
0.00026
|
NM_006392.4(NOP56):c.1357C>T (p.Arg453Trp)
|
rs183494902
|
0.00026
|
NM_006496.4(GNAI3):c.509C>T (p.Thr170Ile)
|
rs61754626
|
0.00026
|
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe)
|
rs137853011
|
0.00026
|
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val)
|
rs28897675
|
0.00026
|
NM_015295.3(SMCHD1):c.3841A>G (p.Ile1281Val)
|
rs201059575
|
0.00026
|
NM_020738.4(KIDINS220):c.3886A>G (p.Ser1296Gly)
|
rs201077051
|
0.00026
|
NM_021930.6(RINT1):c.782C>T (p.Pro261Leu)
|
rs199535472
|
0.00026
|
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp)
|
rs150624408
|
0.00026
|
NM_147190.5(CERS5):c.35T>C (p.Leu12Pro)
|
rs199600749
|
0.00026
|
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr)
|
rs150757822
|
0.00025
|
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His)
|
rs56328701
|
0.00025
|
NM_000059.4(BRCA2):c.440A>G (p.Gln147Arg)
|
rs80358674
|
0.00025
|
NM_000269.3(NME1):c.-5+762del
|
rs762250702
|
0.00025
|
NM_000535.7(PMS2):c.1242C>T (p.Asp414=)
|
rs142839559
|
0.00025
|
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser)
|
rs17420802
|
0.00025
|
NM_000548.5(TSC2):c.5262C>G (p.Ile1754Met)
|
rs397515318
|
0.00025
|
NM_001077653.2(TBX20):c.414G>A (p.Ser138=)
|
rs144597480
|
0.00025
|
NM_001851.6(COL9A1):c.1634G>A (p.Arg545His)
|
rs145698301
|
0.00025
|
NM_002691.4(POLD1):c.624G>A (p.Pro208=)
|
rs78996304
|
0.00025
|
NM_003571.4(BFSP2):c.1115C>T (p.Ala372Val)
|
rs139944598
|
0.00025
|
NM_004985.5(KRAS):c.24A>G (p.Val8=)
|
rs147406419
|
0.00025
|
NM_005529.7(HSPG2):c.5297C>T (p.Ala1766Val)
|
rs139794766
|
0.00025
|
NM_006231.4(POLE):c.1405C>T (p.Leu469=)
|
rs368303888
|
0.00025
|
NM_015102.5(NPHP4):c.1114G>A (p.Gly372Ser)
|
rs188020560
|
0.00025
|
NM_000038.6(APC):c.5274T>A (p.Ser1758=)
|
rs199600387
|
0.00024
|
NM_000350.3(ABCA4):c.3758C>T (p.Thr1253Met)
|
rs61752424
|
0.00024
|
NM_000384.3(APOB):c.5599C>T (p.Arg1867Trp)
|
rs200583769
|
0.00024
|
NM_000465.4(BARD1):c.668A>G (p.Glu223Gly)
|
rs145009419
|
0.00024
|
NM_001009944.3(PKD1):c.4015G>A (p.Val1339Met)
|
rs147141131
|
0.00024
|
NM_001318789.2(TLR2):c.119C>T (p.Ser40Leu)
|
rs141039581
|
0.00024
|
NM_001348946.2(ABCB1):c.3044C>A (p.Thr1015Asn)
|
rs145774816
|
0.00024
|
NM_001386393.1(PANK2):c.1231G>A (p.Gly411Arg)
|
rs137852959
|
0.00024
|
NM_005373.3(MPL):c.549G>A (p.Thr183=)
|
rs147130173
|
0.00024
|
NM_005529.7(HSPG2):c.11920G>A (p.Gly3974Arg)
|
rs370471445
|
0.00024
|
NM_006231.4(POLE):c.2683G>A (p.Ala895Thr)
|
rs201115064
|
0.00024
|
NM_007294.4(BRCA1):c.3929C>A (p.Thr1310Lys)
|
rs80357257
|
0.00024
|
NM_007294.4(BRCA1):c.4358-10C>T
|
rs80358111
|
0.00024
|
NM_007294.4(BRCA1):c.528G>A (p.Thr176=)
|
rs34545365
|
0.00024
|
NM_020366.4(RPGRIP1):c.2435G>A (p.Arg812Gln)
|
rs190490019
|
0.00024
|
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala)
|
rs28903098
|
0.00024
|
NM_058216.3(RAD51C):c.145+12T>G
|
rs377297129
|
0.00024
|
NM_133379.5(TTN):c.15302A>G (p.Glu5101Gly)
|
rs142973956
|
0.00024
|
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg)
|
rs149798764
|
0.00024
|
NM_144508.5(KNL1):c.6311T>G (p.Leu2104Trp)
|
rs115973566
|
0.00024
|
NM_173500.4(TTBK2):c.595C>T (p.Arg199Trp)
|
rs200125366
|
0.00024
|
NM_205861.3(DHDDS):c.908C>T (p.Ser303Leu)
|
rs141852437
|
0.00024
|
NM_000038.6(APC):c.6526T>C (p.Leu2176=)
|
rs183468041
|
0.00023
|
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn)
|
rs56087561
|
0.00023
|
NM_000179.3(MSH6):c.3438+11_3438+14del
|
rs377746844
|
0.00023
|
NM_000190.4(HMBS):c.380C>A (p.Pro127Gln)
|
rs200998739
|
0.00023
|
NM_000455.5(STK11):c.1194G>A (p.Ala398=)
|
rs184271025
|
0.00023
|
NM_001009944.3(PKD1):c.8550G>A (p.Ser2850=)
|
rs145648167
|
0.00023
|
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln)
|
rs149866955
|
0.00023
|
NM_001371986.1(UNC80):c.1313T>C (p.Leu438Pro)
|
rs200743585
|
0.00023
|
NM_001457.4(FLNB):c.4966G>C (p.Asp1656His)
|
rs574654024
|
0.00023
|
NM_004260.4(RECQL4):c.1219G>A (p.Glu407Lys)
|
rs117670586
|
0.00023
|
NM_006766.5(KAT6A):c.3440A>T (p.Lys1147Ile)
|
rs545152883
|
0.00023
|
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys)
|
rs28897676
|
0.00023
|
NM_016006.6(ABHD5):c.26A>G (p.Asp9Gly)
|
rs144420157
|
0.00023
|
NM_031475.3(ESPN):c.1432C>T (p.Arg478Cys)
|
rs780655335
|
0.00023
|
NM_198578.4(LRRK2):c.2264C>T (p.Pro755Leu)
|
rs34410987
|
0.00023
|
NM_000038.6(APC):c.7036C>T (p.Pro2346Ser)
|
rs200756935
|
0.00022
|
NM_000059.4(BRCA2):c.7976+35C>A
|
rs181176701
|
0.00022
|
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile)
|
rs28897755
|
0.00022
|
NM_000059.4(BRCA2):c.9502-12T>G
|
rs81002803
|
0.00022
|
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser)
|
rs41295288
|
0.00022
|
NM_000313.4(PROS1):c.1331C>T (p.Pro444Leu)
|
rs369244777
|
0.00022
|
NM_000369.5(TSHR):c.202C>T (p.Pro68Ser)
|
rs142063461
|
0.00022
|
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys)
|
rs139438201
|
0.00022
|
NM_001009944.3(PKD1):c.10363C>T (p.Leu3455=)
|
rs114102239
|
0.00022
|
NM_001009944.3(PKD1):c.10822-8C>G
|
rs9924796
|
0.00022
|
NM_001009944.3(PKD1):c.3679G>T (p.Ala1227Ser)
|
rs150710956
|
0.00022
|
NM_001009944.3(PKD1):c.4052G>A (p.Arg1351Gln)
|
rs374129201
|
0.00022
|
NM_001370658.1(BTD):c.-148C>T
|
rs774964227
|
0.00022
|
NM_001378454.1(ALMS1):c.12044G>A (p.Gly4015Asp)
|
rs200462734
|
0.00022
|
NM_002273.4(KRT8):c.1202+1G>A
|
rs199648626
|
0.00022
|
NM_004360.5(CDH1):c.1018A>G (p.Thr340Ala)
|
rs116093741
|
0.00022
|
NM_004360.5(CDH1):c.2589C>T (p.Asn863=)
|
rs115817750
|
0.00022
|
NM_004360.5(CDH1):c.33G>C (p.Leu11=)
|
rs730881654
|
0.00022
|
NM_005228.5(EGFR):c.844G>A (p.Glu282Lys)
|
rs199796955
|
0.00022
|
NM_006019.4(TCIRG1):c.2445C>T (p.Gly815=)
|
rs150788130
|
0.00022
|
NM_007294.4(BRCA1):c.4813T>C (p.Leu1605=)
|
rs80356833
|
0.00022
|
NM_007294.4(BRCA1):c.807G>A (p.Leu269=)
|
rs149867679
|
0.00022
|
NM_015102.5(NPHP4):c.1440G>A (p.Ser480=)
|
rs374690894
|
0.00022
|
NM_053025.4(MYLK):c.5477C>T (p.Ala1826Val)
|
rs147187907
|
0.00022
|
NM_173076.3(ABCA12):c.1222T>C (p.Ser408Pro)
|
rs189141015
|
0.00022
|
NM_000038.6(APC):c.3352A>G (p.Asn1118Asp)
|
rs140493115
|
0.00021
|
NM_000051.4(ATM):c.3403-15_3403-14insTA
|
rs1555091084
|
0.00021
|
NM_000059.4(BRCA2):c.516+102T>C
|
rs56251699
|
0.00021
|
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp)
|
rs80358755
|
0.00021
|
NM_000094.4(COL7A1):c.923T>C (p.Ile308Thr)
|
rs145738101
|
0.00021
|
NM_000123.4(ERCC5):c.2296G>A (p.Gly766Arg)
|
rs201581850
|
0.00021
|
NM_000136.3(FANCC):c.456+4A>T
|
rs104886456
|
0.00021
|
NM_000330.4(RS1):c.264G>C (p.Gln88His)
|
rs201680258
|
0.00021
|
NM_000465.4(BARD1):c.1347A>G (p.Gln449=)
|
rs373257776
|
0.00021
|
NM_000492.4(CFTR):c.1312A>G (p.Thr438Ala)
|
rs201434579
|
0.00021
|
NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr)
|
rs63751132
|
0.00021
|
NM_001138.2(AGRP):c.264A>G (p.Val88=)
|
rs145840661
|
0.00021
|
NM_001142800.2(EYS):c.8072-15237G>C
|
rs556660906
|
0.00021
|
NM_001371928.1(AHDC1):c.2538G>A (p.Ser846=)
|
rs202137607
|
0.00021
|
NM_002292.4(LAMB2):c.5233G>A (p.Ala1745Thr)
|
rs142041381
|
0.00021
|
NM_004360.5(CDH1):c.670C>T (p.Arg224Cys)
|
rs200310662
|
0.00021
|
NM_004525.3(LRP2):c.6130G>A (p.Ala2044Thr)
|
rs142266106
|
0.00021
|
NM_006231.4(POLE):c.561C>T (p.Tyr187=)
|
rs143938822
|
0.00021
|
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys)
|
rs28897683
|
0.00021
|
NM_007294.4(BRCA1):c.3804T>C (p.Asn1268=)
|
rs140588714
|
0.00021
|
NM_007294.4(BRCA1):c.5411T>A (p.Val1804Asp)
|
rs80356920
|
0.00021
|
NM_007294.4(BRCA1):c.571G>A (p.Val191Ile)
|
rs80357090
|
0.00021
|
NM_014244.5(ADAMTS2):c.3154T>G (p.Ser1052Ala)
|
rs201390756
|
0.00021
|
NM_017777.4(MKS1):c.83T>C (p.Val28Ala)
|
rs201957874
|
0.00021
|
NM_020937.4(FANCM):c.5108A>G (p.His1703Arg)
|
rs146897650
|
0.00021
|
NM_024675.4(PALB2):c.298C>T (p.Leu100Phe)
|
rs61756147
|
0.00021
|
NM_025194.3(ITPKC):c.1516C>T (p.Pro506Ser)
|
rs139491097
|
0.00021
|
NM_130797.4(DPP6):c.1621G>A (p.Ala541Thr)
|
rs755543207
|
0.00021
|
NM_139027.6(ADAMTS13):c.2545G>A (p.Val849Ile)
|
rs140639242
|
0.00021
|
NM_152564.5(VPS13B):c.11338G>T (p.Val3780Leu)
|
rs138565077
|
0.00021
|
NM_000038.6(APC):c.3006C>T (p.Ala1002=)
|
rs72541810
|
0.00020
|
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly)
|
rs56403624
|
0.00020
|
NM_000059.4(BRCA2):c.198A>G (p.Gln66=)
|
rs28897700
|
0.00020
|
NM_000059.4(BRCA2):c.5710C>G (p.Leu1904Val)
|
rs55875643
|
0.00020
|
NM_000059.4(BRCA2):c.6803G>A (p.Arg2268Lys)
|
rs80358906
|
0.00020
|
NM_000136.3(FANCC):c.1407G>A (p.Thr469=)
|
rs79722116
|
0.00020
|
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln)
|
rs63750361
|
0.00020
|
NM_000421.5(KRT10):c.71G>A (p.Gly24Glu)
|
rs556262610
|
0.00020
|
NM_001009944.3(PKD1):c.6007G>A (p.Ala2003Thr)
|
rs201599671
|
0.00020
|
NM_001009944.3(PKD1):c.6395T>G (p.Phe2132Cys)
|
rs150154235
|
0.00020
|
NM_001009944.3(PKD1):c.8235T>G (p.Ser2745=)
|
rs556575921
|
0.00020
|
NM_001009944.3(PKD1):c.9548G>A (p.Arg3183Gln)
|
rs79648977
|
0.00020
|
NM_001430.5(EPAS1):c.1700T>C (p.Met567Thr)
|
rs374224241
|
0.00020
|
NM_002016.2(FLG):c.7946G>C (p.Ser2649Thr)
|
rs757903351
|
0.00020
|
NM_002913.5(RFC1):c.2248A>G (p.Met750Val)
|
rs558110225
|
0.00020
|
NM_003482.4(KMT2D):c.6836G>A (p.Gly2279Glu)
|
rs200578414
|
0.00020
|
NM_004064.5(CDKN1B):c.407A>G (p.Asp136Gly)
|
rs546234840
|
0.00020
|
NM_024675.4(PALB2):c.1492G>T (p.Asp498Tyr)
|
rs75023630
|
0.00020
|
NM_182914.3(SYNE2):c.17723G>A (p.Arg5908His)
|
rs538344879
|
0.00020
|
NM_000038.6(APC):c.1488A>T (p.Thr496=)
|
rs9282599
|
0.00019
|
NM_000038.6(APC):c.2205G>A (p.Ala735=)
|
rs141001261
|
0.00019
|
NM_000038.6(APC):c.3249T>G (p.Asp1083Glu)
|
rs201629780
|
0.00019
|
NM_000051.4(ATM):c.1272T>C (p.Pro424=)
|
rs35578748
|
0.00019
|
NM_000051.4(ATM):c.295A>G (p.Ser99Gly)
|
rs137882485
|
0.00019
|
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr)
|
rs145119475
|
0.00019
|
NM_000051.4(ATM):c.4980C>T (p.Asn1660=)
|
rs144338238
|
0.00019
|
NM_000051.4(ATM):c.8734A>G (p.Arg2912Gly)
|
rs376676328
|
0.00019
|
NM_000059.4(BRCA2):c.-39-36C>G
|
rs183997506
|
0.00019
|
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)
|
rs80359550
|
0.00019
|
NM_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys)
|
rs55794205
|
0.00019
|
NM_000059.4(BRCA2):c.6921A>G (p.Ser2307=)
|
rs181183366
|
0.00019
|
NM_000059.4(BRCA2):c.7805+13A>G
|
rs149769332
|
0.00019
|
NM_000059.4(BRCA2):c.8487+8G>A
|
rs81002838
|
0.00019
|
NM_000059.4(BRCA2):c.8905G>A (p.Val2969Met)
|
rs59004709
|
0.00019
|
NM_000136.3(FANCC):c.29G>A (p.Cys10Tyr)
|
rs143152201
|
0.00019
|
NM_000179.3(MSH6):c.3961A>G (p.Arg1321Gly)
|
rs41295278
|
0.00019
|
NM_000179.3(MSH6):c.4001+11_4001+15dup
|
rs587779302
|
0.00019
|
NM_000249.4(MLH1):c.394G>C (p.Asp132His)
|
rs28930073
|
0.00019
|
NM_000251.3(MSH2):c.1255C>A (p.Gln419Lys)
|
rs63750006
|
0.00019
|
NM_000251.3(MSH2):c.138C>G (p.His46Gln)
|
rs33946261
|
0.00019
|
NM_000251.3(MSH2):c.481G>A (p.Val161Ile)
|
rs149511545
|
0.00019
|
NM_000372.5(TYR):c.823G>T (p.Val275Phe)
|
rs104894314
|
0.00019
|
NM_000484.4(APP):c.982C>T (p.Arg328Trp)
|
rs200978018
|
0.00019
|
NM_000492.4(CFTR):c.3041A>G (p.Tyr1014Cys)
|
rs149279509
|
0.00019
|
NM_000535.7(PMS2):c.1243G>A (p.Val415Met)
|
rs138387687
|
0.00019
|
NM_000751.3(CHRND):c.728G>A (p.Arg243His)
|
rs148869069
|
0.00019
|
NM_000789.4(ACE):c.2299G>A (p.Glu767Lys)
|
rs148995315
|
0.00019
|
NM_001009944.3(PKD1):c.10119G>A (p.Ser3373=)
|
rs376838860
|
0.00019
|
NM_001009944.3(PKD1):c.7430G>A (p.Arg2477His)
|
rs556618384
|
0.00019
|
NM_001085458.2(CTNND1):c.2224C>T (p.Arg742Cys)
|
rs752805578
|
0.00019
|
NM_001136193.2(FASTKD2):c.756G>A (p.Gln252=)
|
rs377619612
|
0.00019
|
NM_001170629.2(CHD8):c.6340C>T (p.Leu2114Phe)
|
rs200566427
|
0.00019
|
NM_001384140.1(PCDH15):c.4712A>C (p.Glu1571Ala)
|
rs199834829
|
0.00019
|
NM_001853.4(COL9A3):c.481C>T (p.His161Tyr)
|
rs150207068
|
0.00019
|
NM_001909.5(CTSD):c.294G>A (p.Thr98=)
|
rs369373285
|
0.00019
|
NM_002334.4(LRP4):c.539A>G (p.Glu180Gly)
|
rs201957426
|
0.00019
|
NM_002458.3(MUC5B):c.854C>T (p.Ala285Val)
|
rs759983497
|
0.00019
|
NM_002485.5(NBN):c.2220T>C (p.Ala740=)
|
rs147494981
|
0.00019
|
NM_002691.4(POLD1):c.2155-8C>T
|
rs759802920
|
0.00019
|
NM_002711.4(PPP1R3A):c.2972G>A (p.Arg991Lys)
|
rs374950521
|
0.00019
|
NM_003282.4(TNNI2):c.61G>A (p.Val21Met)
|
rs200110633
|
0.00019
|
NM_004360.5(CDH1):c.1296C>T (p.Asn432=)
|
rs187862045
|
0.00019
|
NM_006185.4(NUMA1):c.242T>A (p.Leu81Gln)
|
rs201872246
|
0.00019
|
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His)
|
rs139366548
|
0.00019
|
NM_007294.4(BRCA1):c.1789G>A (p.Glu597Lys)
|
rs55650082
|
0.00019
|
NM_007294.4(BRCA1):c.4484+14A>G
|
rs80358022
|
0.00019
|
NM_007294.4(BRCA1):c.5005G>T (p.Ala1669Ser)
|
rs80357087
|
0.00019
|
NM_015295.3(SMCHD1):c.5155A>G (p.Ser1719Gly)
|
rs201221497
|
0.00019
|
NM_015330.6(SPECC1L):c.2440G>A (p.Val814Ile)
|
rs139167350
|
0.00019
|
NM_016938.5(EFEMP2):c.977G>A (p.Arg326His)
|
rs141868759
|
0.00019
|
NM_017672.6(TRPM7):c.2659T>A (p.Trp887Arg)
|
rs35648842
|
0.00019
|
NM_017780.4(CHD7):c.8366C>T (p.Ala2789Val)
|
rs376934539
|
0.00019
|
NM_025114.4(CEP290):c.7015C>T (p.Arg2339Trp)
|
rs200969981
|
0.00019
|
NM_025132.4(WDR19):c.3016A>G (p.Thr1006Ala)
|
rs199678654
|
0.00019
|
NM_181776.3(SLC36A2):c.613A>G (p.Met205Val)
|
rs143611303
|
0.00019
|
NC_000022.11:g.36821536T>G
|
rs55895628
|
0.00018
|
NM_000038.6(APC):c.3374T>C (p.Val1125Ala)
|
rs377278397
|
0.00018
|
NM_000038.6(APC):c.5009C>T (p.Ala1670Val)
|
rs202228932
|
0.00018
|
NM_000059.4(BRCA2):c.2350A>G (p.Met784Val)
|
rs11571653
|
0.00018
|
NM_000059.4(BRCA2):c.7712A>G (p.Glu2571Gly)
|
rs55689095
|
0.00018
|
NM_000059.4(BRCA2):c.7976+23C>T
|
rs183623188
|
0.00018
|
NM_000110.4(DPYD):c.2998G>A (p.Asp1000Asn)
|
rs151074666
|
0.00018
|
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr)
|
rs63749910
|
0.00018
|
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe)
|
rs61751408
|
0.00018
|
NM_000399.5(EGR2):c.457A>C (p.Thr153Pro)
|
rs202183386
|
0.00018
|
NM_000455.5(STK11):c.618G>A (p.Ala206=)
|
rs370976710
|
0.00018
|
NM_000481.4(AMT):c.1136A>C (p.Glu379Ala)
|
rs201189946
|
0.00018
|
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)
|
rs121434629
|
0.00018
|
NM_000535.7(PMS2):c.2253T>C (p.Phe751=)
|
rs1805325
|
0.00018
|
NM_000546.6(TP53):c.74+14T>C
|
rs184743157
|
0.00018
|
NM_001009944.3(PKD1):c.10168-8C>T
|
rs199808929
|
0.00018
|
NM_001365276.2(TNXB):c.9460A>G (p.Thr3154Ala)
|
rs777498453
|
0.00018
|
NM_002691.4(POLD1):c.2017G>A (p.Glu673Lys)
|
rs61751955
|
0.00018
|
NM_002878.4(RAD51D):c.904-3C>T
|
rs45478491
|
0.00018
|
NM_002906.4(RDX):c.1037A>C (p.Glu346Ala)
|
rs141462728
|
0.00018
|
NM_004525.3(LRP2):c.10661G>A (p.Arg3554Gln)
|
rs139257219
|
0.00018
|
NM_005373.3(MPL):c.79+2T>A
|
rs146249964
|
0.00018
|
NM_006231.4(POLE):c.1597G>A (p.Val533Met)
|
rs374140892
|
0.00018
|
NM_006231.4(POLE):c.6751T>C (p.Phe2251Leu)
|
rs373768478
|
0.00018
|
NM_007294.4(BRCA1):c.5406+33A>T
|
rs80358092
|
0.00018
|
NM_016390.4(SPOUT1):c.366C>G (p.Ala122=)
|
rs370340839
|
0.00018
|
NM_019597.5(HNRNPH2):c.769T>A (p.Ser257Thr)
|
rs201300968
|
0.00018
|
NM_021098.3(CACNA1H):c.1429C>T (p.Arg477Cys)
|
rs376935647
|
0.00018
|
NM_201384.3(PLEC):c.6416G>A (p.Arg2139His)
|
rs372652727
|
0.00018
|
NC_000015.10:g.72742308A>G
|
rs1023629276
|
0.00017
|
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys)
|
rs138398778
|
0.00017
|
NM_000051.4(ATM):c.6108T>C (p.Tyr2036=)
|
rs3092826
|
0.00017
|
NM_000059.4(BRCA2):c.10203G>A (p.Thr3401=)
|
rs147854265
|
0.00017
|
NM_000179.3(MSH6):c.867C>A (p.Gly289=)
|
rs267608047
|
0.00017
|
NM_000264.5(PTCH1):c.3617G>A (p.Arg1206His)
|
rs560967532
|
0.00017
|
NM_000273.3(GPR143):c.1045G>A (p.Glu349Lys)
|
rs138809166
|
0.00017
|
NM_000360.4(TH):c.391T>G (p.Phe131Val)
|
rs200536568
|
0.00017
|
NM_000535.7(PMS2):c.-7T>C
|
rs199660792
|
0.00017
|
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met)
|
rs587780046
|
0.00017
|
NM_001009944.3(PKD1):c.3726G>A (p.Thr1242=)
|
rs146243410
|
0.00017
|
NM_001009944.3(PKD1):c.8009A>G (p.Gln2670Arg)
|
rs749291211
|
0.00017
|
NM_001009944.3(PKD1):c.8294G>A (p.Arg2765His)
|
rs375198888
|
0.00017
|
NM_001009944.3(PKD1):c.8689G>A (p.Val2897Ile)
|
rs145532417
|
0.00017
|
NM_001128425.2(MUTYH):c.42C>T (p.Ile14=)
|
rs202240122
|
0.00017
|
NM_001244926.2(PRPF4):c.739A>G (p.Thr247Ala)
|
rs563764064
|
0.00017
|
NM_003098.3(SNTA1):c.430T>G (p.Ser144Ala)
|
rs142978180
|
0.00017
|
NM_003263.4(TLR1):c.1406C>T (p.Ala469Val)
|
rs141556246
|
0.00017
|
NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp)
|
rs121918222
|
0.00017
|
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys)
|
rs28897686
|
0.00017
|
NM_007294.4(BRCA1):c.4132G>A (p.Val1378Ile)
|
rs28897690
|
0.00017
|
NM_014832.5(TBC1D4):c.1993C>T (p.Arg665Cys)
|
rs376333903
|
0.00017
|
NM_016239.4(MYO15A):c.6911T>C (p.Ile2304Thr)
|
rs199587101
|
0.00017
|
NM_024675.4(PALB2):c.2135C>T (p.Ala712Val)
|
rs141458731
|
0.00017
|
NM_032043.3(BRIP1):c.587A>G (p.Asn196Ser)
|
rs550707862
|
0.00017
|
NM_032043.3(BRIP1):c.854A>G (p.His285Arg)
|
rs141055990
|
0.00017
|
NM_170665.4(ATP2A2):c.1096A>G (p.Met366Val)
|
rs199776454
|
0.00017
|
NM_000038.6(APC):c.6510A>C (p.Pro2170=)
|
rs138571760
|
0.00016
|
NM_000059.4(BRCA2):c.3417G>A (p.Lys1139=)
|
rs145625991
|
0.00016
|
NM_000069.3(CACNA1S):c.262A>G (p.Lys88Glu)
|
rs140330831
|
0.00016
|
NM_000082.4(ERCC8):c.550+42C>T
|
rs369365521
|
0.00016
|
NM_000130.5(F5):c.6401C>T (p.Thr2134Met)
|
rs199601865
|
0.00016
|
NM_000179.3(MSH6):c.3160A>T (p.Ile1054Phe)
|
rs267608075
|
0.00016
|
NM_000179.3(MSH6):c.866G>A (p.Gly289Asp)
|
rs368318845
|
0.00016
|
NM_000249.4(MLH1):c.2101C>A (p.Gln701Lys)
|
rs63750114
|
0.00016
|
NM_000249.4(MLH1):c.65G>C (p.Gly22Ala)
|
rs41295280
|
0.00016
|
NM_000251.3(MSH2):c.1275A>G (p.Glu425=)
|
rs63751650
|
0.00016
|
NM_000341.4(SLC3A1):c.863G>A (p.Arg288His)
|
rs375237049
|
0.00016
|
NM_000393.5(COL5A2):c.2117C>T (p.Pro706Leu)
|
rs146175905
|
0.00016
|
NM_000443.4(ABCB4):c.3764C>T (p.Thr1255Met)
|
rs147577035
|
0.00016
|
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr)
|
rs201343342
|
0.00016
|
NM_001009944.3(PKD1):c.7993G>A (p.Ala2665Thr)
|
rs764822533
|
0.00016
|
NM_001009944.3(PKD1):c.8444C>T (p.Ala2815Val)
|
rs183084156
|
0.00016
|
NM_001013620.4(ALG10B):c.377C>G (p.Ser126Ter)
|
rs148982342
|
0.00016
|
NM_001040108.2(MLH3):c.713A>C (p.Tyr238Ser)
|
rs144707485
|
0.00016
|
NM_001128840.3(CACNA1D):c.1351G>C (p.Glu451Gln)
|
rs200910800
|
0.00016
|
NM_001204.7(BMPR2):c.545G>A (p.Gly182Asp)
|
rs137852754
|
0.00016
|
NM_001267550.2(TTN):c.12145C>T (p.Pro4049Ser)
|
rs201888760
|
0.00016
|
NM_001267550.2(TTN):c.63626G>A (p.Arg21209Gln)
|
rs148684589
|
0.00016
|
NM_001270974.2(HYDIN):c.11431C>T (p.Arg3811Cys)
|
rs111706881
|
0.00016
|
NM_001366385.1(CARD14):c.1199G>A (p.Arg400His)
|
rs147466598
|
0.00016
|
NM_001376.5(DYNC1H1):c.13385G>A (p.Arg4462Gln)
|
rs376608392
|
0.00016
|
NM_001385875.1(ZFYVE27):c.149A>G (p.Tyr50Cys)
|
rs199548555
|
0.00016
|
NM_002491.3(NDUFB3):c.208G>T (p.Gly70Ter)
|
rs200800978
|
0.00016
|
NM_003560.4(PLA2G6):c.564C>T (p.Thr188=)
|
rs185396488
|
0.00016
|
NM_005996.4(TBX3):c.1080G>C (p.Glu360Asp)
|
rs376189812
|
0.00016
|
NM_006005.3(WFS1):c.400G>A (p.Ala134Thr)
|
rs147724970
|
0.00016
|
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu)
|
rs80357201
|
0.00016
|
NM_016277.5(RAB23):c.346A>G (p.Thr116Ala)
|
rs138803099
|
0.00016
|
NM_018490.5(LGR4):c.2102C>T (p.Thr701Met)
|
rs369897268
|
0.00016
|
NM_022455.5(NSD1):c.7576C>T (p.Pro2526Ser)
|
rs373932824
|
0.00016
|
NM_024675.4(PALB2):c.1564C>T (p.Pro522Ser)
|
rs373876101
|
0.00016
|
NM_024675.4(PALB2):c.3054G>C (p.Glu1018Asp)
|
rs183489969
|
0.00016
|
NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys)
|
rs201869624
|
0.00016
|
NM_080916.3(DGUOK):c.366G>C (p.Gln122His)
|
rs199645258
|
0.00016
|
NM_138927.4(SON):c.1267C>T (p.Pro423Ser)
|
rs201446136
|
0.00016
|
NM_152564.5(VPS13B):c.2471C>T (p.Ser824Phe)
|
rs145419141
|
0.00016
|
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys)
|
rs111033258
|
0.00016
|
NM_000051.4(ATM):c.2887A>G (p.Met963Val)
|
rs374353016
|
0.00015
|
NM_000053.4(ATP7B):c.3583G>A (p.Ala1195Thr)
|
rs202218969
|
0.00015
|
NM_000249.4(MLH1):c.1820T>A (p.Leu607His)
|
rs41295284
|
0.00015
|
NM_000314.8(PTEN):c.802-12T>C
|
rs587781129
|
0.00015
|
NM_000465.4(BARD1):c.1554C>T (p.Ala518=)
|
rs139612775
|
0.00015
|
NM_000540.3(RYR1):c.7902C>A (p.Asn2634Lys)
|
rs148041292
|
0.00015
|
NM_000718.4(CACNA1B):c.5065G>A (p.Val1689Ile)
|
rs200485916
|
0.00015
|
NM_001009944.3(PKD1):c.10316G>A (p.Arg3439Gln)
|
rs138546384
|
0.00015
|
NM_001083116.3(PRF1):c.674G>A (p.Arg225Gln)
|
rs140281371
|
0.00015
|
NM_001199138.2(NLRC4):c.928C>T (p.Arg310Ter)
|
rs199475953
|
0.00015
|
NM_002461.3(MVD):c.1085C>T (p.Pro362Leu)
|
rs201844867
|
0.00015
|
NM_005670.4(EPM2A):c.488A>G (p.Asn163Ser)
|
rs141919651
|
0.00015
|
NM_006231.4(POLE):c.2974G>A (p.Ala992Thr)
|
rs115193764
|
0.00015
|
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys)
|
rs141568342
|
0.00015
|
NM_015443.4(KANSL1):c.2110T>C (p.Ser704Pro)
|
rs202231419
|
0.00015
|
NM_017570.5(OPLAH):c.1424C>T (p.Ala475Val)
|
rs374935079
|
0.00015
|
NM_138694.4(PKHD1):c.658G>A (p.Asp220Asn)
|
rs199897497
|
0.00015
|
NM_203486.3(DLL3):c.100A>T (p.Ile34Phe)
|
rs781688970
|
0.00015
|
NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu)
|
rs147394623
|
0.00015
|
NC_000020.11:g.31661977T>G
|
rs76150822
|
0.00014
|
NM_000025.3(ADRB3):c.1013A>G (p.Asn338Ser)
|
rs200277866
|
0.00014
|
NM_000025.3(ADRB3):c.452A>G (p.Lys151Arg)
|
rs200133226
|
0.00014
|
NM_000038.6(APC):c.6609T>C (p.Val2203=)
|
rs149328018
|
0.00014
|
NM_000051.4(ATM):c.3077+4G>A
|
rs201222237
|
0.00014
|
NM_000051.4(ATM):c.4066A>G (p.Asn1356Asp)
|
rs147600485
|
0.00014
|
NM_000051.4(ATM):c.5089A>G (p.Thr1697Ala)
|
rs142455912
|
0.00014
|
NM_000059.4(BRCA2):c.4061C>T (p.Thr1354Met)
|
rs80358656
|
0.00014
|
NM_000059.4(BRCA2):c.742G>A (p.Ala248Thr)
|
rs55854959
|
0.00014
|
NM_000155.4(GALT):c.1132A>G (p.Ile378Val)
|
rs111033819
|
0.00014
|
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu)
|
rs61748083
|
0.00014
|
NM_000179.3(MSH6):c.884A>G (p.Lys295Arg)
|
rs267608051
|
0.00014
|
NM_000249.4(MLH1):c.2001C>T (p.Asp667=)
|
rs63750014
|
0.00014
|
NM_000249.4(MLH1):c.803A>G (p.Glu268Gly)
|
rs63750650
|
0.00014
|
NM_000251.3(MSH2):c.1748A>G (p.Asn583Ser)
|
rs201118107
|
0.00014
|
NM_000303.3(PMM2):c.442G>A (p.Asp148Asn)
|
rs148032587
|
0.00014
|
NM_000465.4(BARD1):c.1203T>C (p.Ser401=)
|
rs370553043
|
0.00014
|
NM_000528.4(MAN2B1):c.2731G>A (p.Glu911Lys)
|
rs139366493
|
0.00014
|
NM_000530.8(MPZ):c.*52G>A
|
rs774701563
|
0.00014
|
NM_000546.6(TP53):c.869G>A (p.Arg290His)
|
rs55819519
|
0.00014
|
NM_000789.4(ACE):c.1688C>T (p.Thr563Ile)
|
rs769142434
|
0.00014
|
NM_001009944.3(PKD1):c.5758C>T (p.Arg1920Cys)
|
rs185746648
|
0.00014
|
NM_001009944.3(PKD1):c.8041C>T (p.Arg2681Cys)
|
rs540634317
|
0.00014
|
NM_001009944.3(PKD1):c.8367C>T (p.Asp2789=)
|
rs764827551
|
0.00014
|
NM_001009999.3(KDM1A):c.283A>G (p.Thr95Ala)
|
rs200773378
|
0.00014
|
NM_001037333.3(CYFIP2):c.3326G>A (p.Arg1109Gln)
|
rs200428535
|
0.00014
|
NM_001145026.2(PTPRQ):c.1042C>T (p.Arg348Cys)
|
rs112718610
|
0.00014
|
NM_001164508.2(NEB):c.7342C>T (p.Arg2448Cys)
|
rs576076237
|
0.00014
|
NM_001204.7(BMPR2):c.2887G>T (p.Gly963Cys)
|
rs146027217
|
0.00014
|
NM_001370497.1(ABCC11):c.856G>A (p.Ala286Thr)
|
rs200134154
|
0.00014
|
NM_001845.6(COL4A1):c.4845G>A (p.Glu1615=)
|
rs142326550
|
0.00014
|
NM_001903.5(CTNNA1):c.730A>T (p.Ile244Leu)
|
rs371337206
|
0.00014
|
NM_001966.4(EHHADH):c.22C>T (p.His8Tyr)
|
rs149510968
|
0.00014
|
NM_002471.4(MYH6):c.2611C>T (p.Arg871Cys)
|
rs376682837
|
0.00014
|
NM_002485.5(NBN):c.1809C>A (p.Phe603Leu)
|
rs192236678
|
0.00014
|
NM_002485.5(NBN):c.266G>C (p.Arg89Pro)
|
rs747315554
|
0.00014
|
NM_002485.5(NBN):c.456G>A (p.Met152Ile)
|
rs201816949
|
0.00014
|
NM_003309.4(TSPYL1):c.392C>T (p.Ala131Val)
|
rs138602300
|
0.00014
|
NM_004360.5(CDH1):c.1353T>C (p.Ile451=)
|
rs114192597
|
0.00014
|
NM_004628.5(XPC):c.1781G>A (p.Arg594His)
|
rs147900621
|
0.00014
|
NM_004991.4(MECOM):c.2219C>T (p.Ser740Phe)
|
rs201320721
|
0.00014
|
NM_005045.4(RELN):c.4893C>G (p.Asp1631Glu)
|
rs201296719
|
0.00014
|
NM_005382.2(NEFM):c.2594G>C (p.Gly865Ala)
|
rs144200733
|
0.00014
|
NM_006231.4(POLE):c.4237G>A (p.Glu1413Lys)
|
rs372901803
|
0.00014
|
NM_007194.4(CHEK2):c.-4C>T
|
rs374938148
|
0.00014
|
NM_007194.4(CHEK2):c.1489G>A (p.Asp497Asn)
|
rs143965148
|
0.00014
|
NM_007294.4(BRCA1):c.1561G>A (p.Ala521Thr)
|
rs80357122
|
0.00014
|
NM_014915.3(ANKRD26):c.4879C>T (p.Pro1627Ser)
|
rs572143624
|
0.00014
|
NM_015139.3(SLC35D1):c.707A>G (p.Tyr236Cys)
|
rs199561187
|
0.00014
|
NM_015215.4(CAMTA1):c.2302T>C (p.Ser768Pro)
|
rs201459076
|
0.00014
|
NM_016953.4(PDE11A):c.1984C>G (p.Leu662Val)
|
rs146111360
|
0.00014
|
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile)
|
rs34647222
|
0.00014
|
NM_024675.4(PALB2):c.2586+10A>G
|
rs373321719
|
0.00014
|
NM_024844.5(NUP85):c.121A>G (p.Lys41Glu)
|
rs761849736
|
0.00014
|
NM_058216.3(RAD51C):c.784T>G (p.Leu262Val)
|
rs149331537
|
0.00014
|
NM_133259.4(LRPPRC):c.2569A>G (p.Arg857Gly)
|
rs200138144
|
0.00014
|
NM_170784.3(MKKS):c.1553G>A (p.Arg518His)
|
rs149051148
|
0.00014
|
NM_000023.4(SGCA):c.328C>T (p.Arg110Trp)
|
rs200137051
|
0.00013
|
NM_000051.4(ATM):c.8560C>T (p.Arg2854Cys)
|
rs201958469
|
0.00013
|
NM_000059.4(BRCA2):c.2274T>G (p.Ser758Arg)
|
rs142243359
|
0.00013
|
NM_000059.4(BRCA2):c.3445A>G (p.Met1149Val)
|
rs80358589
|
0.00013
|
NM_000059.4(BRCA2):c.68-3T>G
|
rs786201770
|
0.00013
|
NM_000059.4(BRCA2):c.6960G>A (p.Leu2320=)
|
rs373134168
|
0.00013
|
NM_000132.4(F8):c.1501G>A (p.Asp501Asn)
|
rs147200025
|
0.00013
|
NM_000179.3(MSH6):c.102C>A (p.Ala34=)
|
rs201132087
|
0.00013
|
NM_000179.3(MSH6):c.59C>T (p.Ala20Val)
|
rs63750664
|
0.00013
|
NM_000179.3(MSH6):c.650A>G (p.Asp217Gly)
|
rs554012110
|
0.00013
|
NM_000251.3(MSH2):c.-3G>C
|
rs587779960
|
0.00013
|
NM_000251.3(MSH2):c.2425G>A (p.Glu809Lys)
|
rs202145681
|
0.00013
|
NM_000251.3(MSH2):c.505A>G (p.Ile169Val)
|
rs63750716
|
0.00013
|
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr)
|
rs45478699
|
0.00013
|
NM_000384.3(APOB):c.2611G>A (p.Ala871Thr)
|
rs144622446
|
0.00013
|
NM_000435.3(NOTCH3):c.6061G>A (p.Val2021Met)
|
rs199620476
|
0.00013
|
NM_000455.5(STK11):c.1071G>T (p.Glu357Asp)
|
rs556651007
|
0.00013
|
NM_000465.4(BARD1):c.659T>C (p.Leu220Ser)
|
rs138593305
|
0.00013
|
NM_000501.4(ELN):c.1339G>A (p.Ala447Thr)
|
rs139335797
|
0.00013
|
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys)
|
rs63750649
|
0.00013
|
NM_000535.7(PMS2):c.255G>A (p.Leu85=)
|
rs200491279
|
0.00013
|
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu)
|
rs374704824
|
0.00013
|
NM_001009944.3(PKD1):c.8237G>A (p.Arg2746Gln)
|
rs1800569
|
0.00013
|
NM_001009944.3(PKD1):c.9169G>A (p.Val3057Met)
|
rs778055216
|
0.00013
|
NM_001048174.2(MUTYH):c.849+3A>C
|
rs587780751
|
0.00013
|
NM_001082486.2(ACD):c.482C>T (p.Ser161Leu)
|
rs149051014
|
0.00013
|
NM_001131034.4(RNF212):c.111dup (p.Lys38Ter)
|
rs768155534
|
0.00013
|
NM_001164508.2(NEB):c.6491G>A (p.Ser2164Asn)
|
rs780626863
|
0.00013
|
NM_001267550.2(TTN):c.12889T>G (p.Cys4297Gly)
|
rs377063950
|
0.00013
|
NM_001374675.1(HSF4):c.910G>A (p.Glu304Lys)
|
rs778828995
|
0.00013
|
NM_002485.5(NBN):c.1124+6G>T
|
rs375862750
|
0.00013
|
NM_002691.4(POLD1):c.1017G>T (p.Ser339=)
|
rs373404887
|
0.00013
|
NM_002691.4(POLD1):c.371T>C (p.Val124Ala)
|
rs199993010
|
0.00013
|
NM_002778.4(PSAP):c.1088C>T (p.Thr363Met)
|
rs140066253
|
0.00013
|
NM_003355.3(UCP2):c.816-2A>G
|
rs150573868
|
0.00013
|
NM_004168.4(SDHA):c.1979C>G (p.Ala660Gly)
|
rs191412461
|
0.00013
|
NM_004360.5(CDH1):c.2635G>A (p.Gly879Ser)
|
rs200911775
|
0.00013
|
NM_004656.4(BAP1):c.1735G>A (p.Gly579Arg)
|
rs370004702
|
0.00013
|
NM_005584.5(MAB21L1):c.121G>A (p.Val41Ile)
|
rs139304367
|
0.00013
|
NM_006445.4(PRPF8):c.37C>G (p.Pro13Ala)
|
rs371898516
|
0.00013
|
NM_007194.4(CHEK2):c.7C>T (p.Arg3Trp)
|
rs199708878
|
0.00013
|
NM_007294.4(BRCA1):c.1911T>C (p.Thr637=)
|
rs62625305
|
0.00013
|
NM_007294.4(BRCA1):c.2773A>C (p.Ile925Leu)
|
rs4986847
|
0.00013
|
NM_017780.4(CHD7):c.3973T>C (p.Tyr1325His)
|
rs377535841
|
0.00013
|
NM_024675.4(PALB2):c.232G>A (p.Val78Ile)
|
rs515726085
|
0.00013
|
NM_024675.4(PALB2):c.48+7G>C
|
rs190626072
|
0.00013
|
NM_133379.5(TTN):c.15778A>G (p.Ile5260Val)
|
rs369214339
|
0.00013
|
NM_000038.6(APC):c.1631T>C (p.Ile544Thr)
|
rs144056494
|
0.00012
|
NM_000038.6(APC):c.450A>G (p.Lys150=)
|
rs116020626
|
0.00012
|
NM_000038.6(APC):c.6873A>T (p.Gln2291His)
|
rs148878262
|
0.00012
|
NM_000059.4(BRCA2):c.1889C>T (p.Thr630Ile)
|
rs80358479
|
0.00012
|
NM_000059.4(BRCA2):c.2919G>A (p.Ser973=)
|
rs45525041
|
0.00012
|
NM_000059.4(BRCA2):c.3055C>G (p.Leu1019Val)
|
rs55638633
|
0.00012
|
NM_000179.3(MSH6):c.1081C>T (p.Arg361Cys)
|
rs587782651
|
0.00012
|
NM_000179.3(MSH6):c.3203G>A (p.Arg1068Gln)
|
rs398123230
|
0.00012
|
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)
|
rs61752717
|
0.00012
|
NM_000249.4(MLH1):c.843A>C (p.Ala281=)
|
rs146796765
|
0.00012
|
NM_000297.4(PKD2):c.9C>T (p.Asn3=)
|
rs773343245
|
0.00012
|
NM_000535.7(PMS2):c.1320A>G (p.Pro440=)
|
rs138697590
|
0.00012
|
NM_001009944.3(PKD1):c.6572G>A (p.Arg2191His)
|
rs774490045
|
0.00012
|
NM_001142800.2(EYS):c.5470A>C (p.Met1824Leu)
|
rs1220126892
|
0.00012
|
NM_001142864.4(PIEZO1):c.1970G>A (p.Arg657His)
|
rs770023621
|
0.00012
|
NM_001142864.4(PIEZO1):c.7099G>A (p.Glu2367Lys)
|
rs552562531
|
0.00012
|
NM_001184880.2(PCDH19):c.1330A>G (p.Thr444Ala)
|
rs201671718
|
0.00012
|
NM_001317778.2(SFTPC):c.445G>C (p.Ala149Pro)
|
rs202145169
|
0.00012
|
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter)
|
rs111033260
|
0.00012
|
NM_001849.4(COL6A2):c.2935G>A (p.Asp979Asn)
|
rs141579198
|
0.00012
|
NM_003072.5(SMARCA4):c.403C>G (p.Pro135Ala)
|
rs150949949
|
0.00012
|
NM_004360.5(CDH1):c.1409C>T (p.Thr470Ile)
|
rs370864592
|
0.00012
|
NM_004525.3(LRP2):c.6511A>G (p.Ile2171Val)
|
rs148562167
|
0.00012
|
NM_005236.3(ERCC4):c.2647G>A (p.Glu883Lys)
|
rs201652412
|
0.00012
|
NM_006231.4(POLE):c.6274G>A (p.Gly2092Ser)
|
rs757559474
|
0.00012
|
NM_006231.4(POLE):c.6674G>A (p.Arg2225His)
|
rs538875477
|
0.00012
|
NM_007294.4(BRCA1):c.1233T>G (p.Asp411Glu)
|
rs80357024
|
0.00012
|
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala)
|
rs80357467
|
0.00012
|
NM_018263.6(ASXL2):c.13G>A (p.Gly5Arg)
|
rs371056638
|
0.00012
|
NM_020680.4(SCYL1):c.928C>T (p.Arg310Trp)
|
rs370521030
|
0.00012
|
NM_025114.4(CEP290):c.5998A>G (p.Ile2000Val)
|
rs183071230
|
0.00012
|
NM_152564.5(VPS13B):c.5884G>T (p.Val1962Leu)
|
rs375399419
|
0.00012
|
NM_173651.4(FSIP2):c.19661T>G (p.Leu6554Arg)
|
rs374520767
|
0.00012
|
NM_201384.3(PLEC):c.2410C>T (p.Arg804Trp)
|
rs201194946
|
0.00012
|
NM_000038.6(APC):c.7621A>G (p.Ile2541Val)
|
rs587778033
|
0.00011
|
NM_000051.4(ATM):c.5185G>C (p.Val1729Leu)
|
rs3092907
|
0.00011
|
NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu)
|
rs201963507
|
0.00011
|
NM_000051.4(ATM):c.7919C>T (p.Thr2640Ile)
|
rs4988125
|
0.00011
|
NM_000053.4(ATP7B):c.3396C>T (p.Ser1132=)
|
rs370947152
|
0.00011
|
NM_000059.4(BRCA2):c.2680G>A (p.Val894Ile)
|
rs28897715
|
0.00011
|
NM_000059.4(BRCA2):c.6317T>C (p.Leu2106Pro)
|
rs56172926
|
0.00011
|
NM_000059.4(BRCA2):c.8633-26A>G
|
rs56268579
|
0.00011
|
NM_000059.4(BRCA2):c.943T>A (p.Cys315Ser)
|
rs79483201
|
0.00011
|
NM_000059.4(BRCA2):c.9501+9A>C
|
rs81002867
|
0.00011
|
NM_000094.4(COL7A1):c.4859G>A (p.Arg1620Gln)
|
rs373682717
|
0.00011
|
NM_000136.3(FANCC):c.553C>T (p.Arg185Ter)
|
rs121917783
|
0.00011
|
NM_000136.3(FANCC):c.817G>A (p.Glu273Lys)
|
rs143181565
|
0.00011
|
NM_000160.5(GCGR):c.1096G>A (p.Ala366Thr)
|
rs370541643
|
0.00011
|
NM_000179.3(MSH6):c.124C>T (p.Pro42Ser)
|
rs34014629
|
0.00011
|
NM_000179.3(MSH6):c.3674C>T (p.Thr1225Met)
|
rs63750370
|
0.00011
|
NM_000179.3(MSH6):c.628-7C>A
|
rs373129248
|
0.00011
|
NM_000251.3(MSH2):c.1461C>G (p.Asp487Glu)
|
rs35107951
|
0.00011
|
NM_000251.3(MSH2):c.198C>T (p.Tyr66=)
|
rs730881784
|
0.00011
|
NM_000251.3(MSH2):c.2785C>T (p.Arg929Ter)
|
rs551060742
|
0.00011
|
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr)
|
rs202004587
|
0.00011
|
NM_000393.5(COL5A2):c.1292A>G (p.Lys431Arg)
|
rs144602736
|
0.00011
|
NM_000435.3(NOTCH3):c.6809C>T (p.Thr2270Met)
|
rs148716935
|
0.00011
|
NM_000447.3(PSEN2):c.640G>T (p.Val214Leu)
|
rs574125890
|
0.00011
|
NM_000455.5(STK11):c.825G>A (p.Pro275=)
|
rs202011521
|
0.00011
|
NM_000466.3(PEX1):c.2954G>A (p.Arg985His)
|
rs202057449
|
0.00011
|
NM_000515.5(GH1):c.127G>A (p.Ala43Thr)
|
rs140787052
|
0.00011
|
NM_000540.3(RYR1):c.14606A>C (p.Asp4869Ala)
|
rs781367427
|
0.00011
|
NM_000546.6(TP53):c.97-9C>T
|
rs202217267
|
0.00011
|
NM_001003722.2(GLE1):c.573G>C (p.Met191Ile)
|
rs201267934
|
0.00011
|
NM_001009944.3(PKD1):c.10405+7T>C
|
rs201762369
|
0.00011
|
NM_001009944.3(PKD1):c.10643G>A (p.Arg3548His)
|
rs62624465
|
0.00011
|
NM_001009944.3(PKD1):c.1557C>T (p.Thr519=)
|
rs561467860
|
0.00011
|
NM_001009944.3(PKD1):c.4695C>T (p.Ser1565=)
|
rs781264169
|
0.00011
|
NM_001009944.3(PKD1):c.6185A>T (p.Gln2062Leu)
|
rs201062488
|
0.00011
|
NM_001009944.3(PKD1):c.8136C>T (p.Ile2712=)
|
rs754894798
|
0.00011
|
NM_001009944.3(PKD1):c.8755G>A (p.Gly2919Arg)
|
rs139438157
|
0.00011
|
NM_001042646.3(TRAK1):c.1178C>G (p.Ser393Cys)
|
rs372269973
|
0.00011
|
NM_001048174.2(MUTYH):c.1034C>T (p.Ala345Val)
|
rs35352891
|
0.00011
|
NM_001060.6(TBXA2R):c.100T>C (p.Phe34Leu)
|
rs201896336
|
0.00011
|
NM_001142864.4(PIEZO1):c.3395C>G (p.Thr1132Ser)
|
rs767222696
|
0.00011
|
NM_001205293.3(CACNA1E):c.1569G>A (p.Met523Ile)
|
rs144517660
|
0.00011
|
NM_001211.6(BUB1B):c.1630C>T (p.Pro544Ser)
|
rs138332995
|
0.00011
|
NM_001267550.2(TTN):c.22091G>A (p.Arg7364Gln)
|
rs200128066
|
0.00011
|
NM_001277115.2(DNAH11):c.7360G>T (p.Val2454Leu)
|
rs536942937
|
0.00011
|
NM_001378454.1(ALMS1):c.9359A>C (p.Lys3120Thr)
|
rs375038066
|
0.00011
|
NM_001378615.1(CC2D2A):c.3055C>T (p.Arg1019Ter)
|
rs370880399
|
0.00011
|
NM_001876.4(CPT1A):c.2235G>A (p.Thr745=)
|
rs202208941
|
0.00011
|
NM_002253.4(KDR):c.3445C>G (p.Gln1149Glu)
|
rs376432705
|
0.00011
|
NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln)
|
rs34321232
|
0.00011
|
NM_002485.5(NBN):c.1035C>T (p.Gly345=)
|
rs146605798
|
0.00011
|
NM_002485.5(NBN):c.1036G>A (p.Val346Met)
|
rs200297914
|
0.00011
|
NM_002485.5(NBN):c.1914+10G>A
|
rs577706448
|
0.00011
|
NM_002485.5(NBN):c.37+10G>C
|
rs369408590
|
0.00011
|
NM_003466.4(PAX8):c.1267A>G (p.Ser423Gly)
|
rs199844947
|
0.00011
|
NM_003504.5(CDC45):c.476G>T (p.Arg159Leu)
|
rs769448408
|
0.00011
|
NM_004329.3(BMPR1A):c.98C>G (p.Thr33Ser)
|
rs142454490
|
0.00011
|
NM_004360.5(CDH1):c.2643C>T (p.Asp881=)
|
rs114708971
|
0.00011
|
NM_004370.6(COL12A1):c.3652G>A (p.Val1218Met)
|
rs201749138
|
0.00011
|
NM_004625.4(WNT7A):c.470G>A (p.Arg157His)
|
rs199592697
|
0.00011
|
NM_004839.4(HOMER2):c.89A>G (p.Gln30Arg)
|
rs189123186
|
0.00011
|
NM_004937.3(CTNS):c.*313C>T
|
rs146610717
|
0.00011
|
NM_005412.6(SHMT2):c.1183C>T (p.Arg395Trp)
|
rs369332082
|
0.00011
|
NM_006231.4(POLE):c.1738C>A (p.His580Asn)
|
rs371149234
|
0.00011
|
NM_006231.4(POLE):c.4169G>A (p.Arg1390His)
|
rs200776293
|
0.00011
|
NM_006744.4(RBP4):c.24G>T (p.Leu8Phe)
|
rs11546956
|
0.00011
|
NM_007294.4(BRCA1):c.1065G>A (p.Lys355=)
|
rs41286292
|
0.00011
|
NM_007294.4(BRCA1):c.2002C>T (p.Leu668Phe)
|
rs80357250
|
0.00011
|
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys)
|
rs41286300
|
0.00011
|
NM_007294.4(BRCA1):c.4934G>C (p.Arg1645Thr)
|
rs70953661
|
0.00011
|
NM_007294.4(BRCA1):c.5158A>G (p.Thr1720Ala)
|
rs56195342
|
0.00011
|
NM_007294.4(BRCA1):c.693G>A (p.Thr231=)
|
rs62625298
|
0.00011
|
NM_012418.4(FSCN2):c.703G>A (p.Ala235Thr)
|
rs199541595
|
0.00011
|
NM_015221.4(DNMBP):c.3815A>C (p.Gln1272Pro)
|
rs200569120
|
0.00011
|
NM_015311.3(OBSL1):c.2104G>A (p.Val702Met)
|
rs199890334
|
0.00011
|
NM_018230.3(NUP133):c.1837G>A (p.Asp613Asn)
|
rs150406381
|
0.00011
|
NM_020208.4(SLC6A20):c.560G>A (p.Arg187His)
|
rs149068093
|
0.00011
|
NM_020320.5(RARS2):c.1366C>T (p.Arg456Cys)
|
rs147844153
|
0.00011
|
NM_020975.6(RET):c.2556C>G (p.Ile852Met)
|
rs377767426
|
0.00011
|
NM_022081.6(HPS4):c.922A>G (p.Thr308Ala)
|
rs150057646
|
0.00011
|
NM_022124.6(CDH23):c.5363C>T (p.Pro1788Leu)
|
rs564555435
|
0.00011
|
NM_022817.3(PER2):c.2114C>T (p.Ala705Val)
|
rs563977205
|
0.00011
|
NM_032119.4(ADGRV1):c.12919G>A (p.Gly4307Arg)
|
rs190628299
|
0.00011
|
NM_032427.4(MAML2):c.1154C>T (p.Pro385Leu)
|
rs200175200
|
0.00011
|
NM_032581.4(HYCC1):c.19G>C (p.Gly7Arg)
|
rs370072584
|
0.00011
|
NM_080683.3(PTPN13):c.2404G>A (p.Val802Ile)
|
rs376444587
|
0.00011
|
NM_138694.4(PKHD1):c.11175-10T>G
|
rs373424543
|
0.00011
|
NM_138694.4(PKHD1):c.4304G>C (p.Ser1435Thr)
|
rs138242579
|
0.00011
|
NM_152383.5(DIS3L2):c.1727G>A (p.Arg576His)
|
rs200386096
|
0.00011
|
NM_152703.5(SAMD9L):c.208C>T (p.Arg70Cys)
|
rs372301151
|
0.00011
|
NM_175053.4(KRT74):c.143G>A (p.Arg48Gln)
|
rs759304994
|
0.00011
|
NM_199420.4(POLQ):c.3745C>A (p.Pro1249Thr)
|
rs140585310
|
0.00011
|
NM_201384.3(PLEC):c.2165C>T (p.Ala722Val)
|
rs375178454
|
0.00011
|
NM_000038.6(APC):c.388A>G (p.Ser130Gly)
|
rs150973053
|
0.00010
|
NM_000038.6(APC):c.4918C>T (p.Arg1640Trp)
|
rs373440614
|
0.00010
|
NM_000051.4(ATM):c.1703G>T (p.Arg568Ile)
|
rs200381392
|
0.00010
|
NM_000051.4(ATM):c.7494T>C (p.Ser2498=)
|
rs34393781
|
0.00010
|
NM_000059.4(BRCA2):c.2488A>G (p.Asn830Asp)
|
rs574039421
|
0.00010
|
NM_000059.4(BRCA2):c.5414A>G (p.Asn1805Ser)
|
rs80358765
|
0.00010
|
NM_000059.4(BRCA2):c.6937+74C>G
|
rs971938860
|
0.00010
|
NM_000059.4(BRCA2):c.8572C>T (p.Gln2858Ter)
|
rs80359112
|
0.00010
|
NM_000081.4(LYST):c.4336C>T (p.Arg1446Trp)
|
rs200276917
|
0.00010
|
NM_000121.4(EPOR):c.1444G>A (p.Asp482Asn)
|
rs775164142
|
0.00010
|
NM_000128.4(F11):c.1858G>C (p.Glu620Gln)
|
rs148054334
|
0.00010
|
NM_000136.3(FANCC):c.1249G>A (p.Glu417Lys)
|
rs140687953
|
0.00010
|
NM_000145.4(FSHR):c.956A>G (p.Glu319Gly)
|
rs147685926
|
0.00010
|
NM_000179.3(MSH6):c.1875C>T (p.Ser625=)
|
rs63749886
|
0.00010
|
NM_000179.3(MSH6):c.2417C>G (p.Ser806Cys)
|
rs372990379
|
0.00010
|
NM_000179.3(MSH6):c.3245C>T (p.Pro1082Leu)
|
rs191109849
|
0.00010
|
NM_000179.3(MSH6):c.335A>G (p.Asn112Ser)
|
rs587779934
|
0.00010
|
NM_000179.3(MSH6):c.3788G>A (p.Arg1263His)
|
rs147852216
|
0.00010
|
NM_000264.5(PTCH1):c.324A>G (p.Ile108Met)
|
rs144182921
|
0.00010
|
NM_000297.4(PKD2):c.356G>A (p.Arg119His)
|
rs748654180
|
0.00010
|
NM_000314.8(PTEN):c.579G>A (p.Leu193=)
|
rs568851024
|
0.00010
|
NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs)
|
rs397515379
|
0.00010
|
NM_000455.5(STK11):c.787T>C (p.Leu263=)
|
rs372378119
|
0.00010
|
NM_000465.4(BARD1):c.1568+15G>T
|
rs145936354
|
0.00010
|
NM_000465.4(BARD1):c.2002-11C>T
|
rs187240320
|
0.00010
|
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr)
|
rs114090343
|
0.00010
|
NM_000745.4(CHRNA5):c.713C>T (p.Pro238Leu)
|
rs61742337
|
0.00010
|
NM_001009944.3(PKD1):c.1704C>T (p.Ala568=)
|
rs990065629
|
0.00010
|
NM_001009944.3(PKD1):c.3486C>G (p.Asp1162Glu)
|
rs144211349
|
0.00010
|
NM_001009944.3(PKD1):c.4220C>T (p.Pro1407Leu)
|
rs140412120
|
0.00010
|
NM_001009944.3(PKD1):c.7210-6C>T
|
rs759723934
|
0.00010
|
NM_001009944.3(PKD1):c.8161+15G>A
|
rs776023570
|
0.00010
|
NM_001048174.2(MUTYH):c.566G>A (p.Arg189His)
|
rs147754007
|
0.00010
|
NM_001267550.2(TTN):c.89018G>A (p.Arg29673Gln)
|
rs200639218
|
0.00010
|
NM_001372044.2(SHANK3):c.4441C>G (p.Leu1481Val)
|
rs201973139
|
0.00010
|
NM_001377.3(DYNC2H1):c.8585G>A (p.Cys2862Tyr)
|
rs368447956
|
0.00010
|
NM_002234.4(KCNA5):c.926G>A (p.Gly309Asp)
|
rs369120527
|
0.00010
|
NM_002485.5(NBN):c.-2C>T
|
rs202104448
|
0.00010
|
NM_002878.4(RAD51D):c.137C>G (p.Ser46Cys)
|
rs587780102
|
0.00010
|
NM_003172.4(SURF1):c.563A>G (p.Asn188Ser)
|
rs200702528
|
0.00010
|
NM_003242.6(TGFBR2):c.367A>T (p.Met123Leu)
|
rs768385200
|
0.00010
|
NM_003280.3(TNNC1):c.210C>T (p.Gly70=)
|
rs141505676
|
0.00010
|
NM_004369.4(COL6A3):c.2305G>A (p.Ala769Thr)
|
rs142719863
|
0.00010
|
NM_005235.3(ERBB4):c.2845G>A (p.Val949Ile)
|
rs376298364
|
0.00010
|
NM_014908.4(DOLK):c.898C>T (p.Leu300Phe)
|
rs371529625
|
0.00010
|
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp)
|
rs534723946
|
0.00010
|
NM_015238.3(WWC1):c.1490G>A (p.Cys497Tyr)
|
rs763165879
|
0.00010
|
NM_016247.4(IMPG2):c.1243A>G (p.Asn415Asp)
|
rs138834349
|
0.00010
|
NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter)
|
rs376161880
|
0.00010
|
NM_024675.4(PALB2):c.11C>T (p.Pro4Leu)
|
rs45619737
|
0.00010
|
NM_024685.4(BBS10):c.1590A>C (p.Arg530Ser)
|
rs146812823
|
0.00010
|
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)
|
rs137852986
|
0.00010
|
NM_058216.3(RAD51C):c.431T>C (p.Ile144Thr)
|
rs28363307
|
0.00010
|
NM_138691.3(TMC1):c.2254C>T (p.Arg752Ter)
|
rs149506642
|
0.00010
|
NM_138694.4(PKHD1):c.934C>T (p.Arg312Trp)
|
rs372340268
|
0.00010
|
NM_147127.5(EVC2):c.1009T>A (p.Trp337Arg)
|
rs201555920
|
0.00010
|
NM_152703.5(SAMD9L):c.2528G>A (p.Arg843Gln)
|
rs200160724
|
0.00010
|
NM_153610.5(CMYA5):c.5888del (p.Ser1963fs)
|
rs755327852
|
0.00010
|
NM_201384.3(PLEC):c.2416C>T (p.Arg806Cys)
|
rs372400636
|
0.00010
|
NM_000014.6(A2M):c.2771-115C>G
|
rs1009130913
|
0.00009
|
NM_000038.6(APC):c.2586C>G (p.Asn862Lys)
|
rs147972247
|
0.00009
|
NM_000038.6(APC):c.3786T>C (p.Tyr1262=)
|
rs147411334
|
0.00009
|
NM_000051.4(ATM):c.4167A>G (p.Thr1389=)
|
rs183214437
|
0.00009
|
NM_000051.4(ATM):c.5005+7_5005+8del
|
rs587780626
|
0.00009
|
NM_000059.4(BRCA2):c.1568A>G (p.His523Arg)
|
rs80358443
|
0.00009
|
NM_000059.4(BRCA2):c.2233A>G (p.Lys745Glu)
|
rs374691587
|
0.00009
|
NM_000059.4(BRCA2):c.2538A>C (p.Ser846=)
|
rs11571654
|
0.00009
|
NM_000059.4(BRCA2):c.3218A>G (p.Gln1073Arg)
|
rs80358566
|
0.00009
|
NM_000059.4(BRCA2):c.4314C>T (p.Val1438=)
|
rs730881590
|
0.00009
|
NM_000059.4(BRCA2):c.4614T>C (p.Ser1538=)
|
rs45520945
|
0.00009
|
NM_000059.4(BRCA2):c.4656T>C (p.Gly1552=)
|
rs41293491
|
0.00009
|
NM_000059.4(BRCA2):c.5455C>T (p.Pro1819Ser)
|
rs80358768
|
0.00009
|
NM_000059.4(BRCA2):c.6338A>G (p.Asn2113Ser)
|
rs80358874
|
0.00009
|
NM_000059.4(BRCA2):c.7601C>T (p.Ala2534Val)
|
rs74047012
|
0.00009
|
NM_000059.4(BRCA2):c.8215G>A (p.Val2739Ile)
|
rs80359069
|
0.00009
|
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu)
|
rs56121817
|
0.00009
|
NM_000124.4(ERCC6):c.879A>T (p.Arg293Ser)
|
rs563356062
|
0.00009
|
NM_000127.3(EXT1):c.122G>A (p.Ser41Asn)
|
rs199862937
|
0.00009
|
NM_000179.3(MSH6):c.1063G>A (p.Gly355Ser)
|
rs587778531
|
0.00009
|
NM_000179.3(MSH6):c.1730G>A (p.Arg577His)
|
rs376220212
|
0.00009
|
NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser)
|
rs147453999
|
0.00009
|
NM_000222.3(KIT):c.1694G>T (p.Gly565Val)
|
rs200945282
|
0.00009
|
NM_000249.3(MLH1):c.-42C>T
|
rs41285097
|
0.00009
|
NM_000249.4(MLH1):c.1808C>G (p.Pro603Arg)
|
rs63750876
|
0.00009
|
NM_000251.3(MSH2):c.2802G>A (p.Thr934=)
|
rs150259097
|
0.00009
|
NM_000251.3(MSH2):c.97A>C (p.Thr33Pro)
|
rs63751107
|
0.00009
|
NM_000297.4(PKD2):c.2391A>C (p.Pro797=)
|
rs556777891
|
0.00009
|
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu)
|
rs371387815
|
0.00009
|
NM_000455.5(STK11):c.735-9G>A
|
rs201899557
|
0.00009
|
NM_000455.5(STK11):c.863-14C>T
|
rs756001994
|
0.00009
|
NM_000465.4(BARD1):c.1694G>A (p.Arg565His)
|
rs146946984
|
0.00009
|
NM_000465.4(BARD1):c.2116A>G (p.Lys706Glu)
|
rs149262370
|
0.00009
|
NM_000465.4(BARD1):c.764A>G (p.Asn255Ser)
|
rs138904906
|
0.00009
|
NM_000492.4(CFTR):c.2657+2_2657+3insA
|
rs397508414
|
0.00009
|
NM_000534.5(PMS1):c.1888C>T (p.Arg630Ter)
|
rs139932286
|
0.00009
|
NM_000546.6(TP53):c.847C>T (p.Arg283Cys)
|
rs149633775
|
0.00009
|
NM_000651.6(CR1):c.148C>T (p.Pro50Ser)
|
rs774858867
|
0.00009
|
NM_000685.5(AGTR1):c.697C>A (p.Pro233Thr)
|
rs151206107
|
0.00009
|
NM_001003694.2(BRPF1):c.1360C>T (p.Arg454Cys)
|
rs765130214
|
0.00009
|
NM_001009944.3(PKD1):c.11589G>A (p.Leu3863=)
|
rs778410054
|
0.00009
|
NM_001009944.3(PKD1):c.12473T>C (p.Met4158Thr)
|
rs201035636
|
0.00009
|
NM_001009944.3(PKD1):c.5704G>A (p.Gly1902Arg)
|
rs370479407
|
0.00009
|
NM_001009944.3(PKD1):c.6099G>A (p.Ala2033=)
|
rs376744819
|
0.00009
|
NM_001009944.3(PKD1):c.8372G>A (p.Arg2791Gln)
|
rs367746233
|
0.00009
|
NM_001009944.3(PKD1):c.8590G>A (p.Glu2864Lys)
|
rs374629549
|
0.00009
|
NM_001009944.3(PKD1):c.9035C>T (p.Thr3012Met)
|
rs376160782
|
0.00009
|
NM_001048174.2(MUTYH):c.583A>G (p.Ile195Val)
|
rs200872702
|
0.00009
|
NM_001048174.2(MUTYH):c.606+14C>G
|
rs752537118
|
0.00009
|
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His)
|
rs140342925
|
0.00009
|
NM_001126049.2(KLLN):c.-1036G>A
|
rs567739104
|
0.00009
|
NM_001164508.2(NEB):c.13204A>G (p.Ser4402Gly)
|
rs1475846023
|
0.00009
|
NM_001267550.2(TTN):c.72802C>T (p.Arg24268Cys)
|
rs370474301
|
0.00009
|
NM_001378183.1(PIEZO2):c.1006G>A (p.Ala336Thr)
|
rs368601054
|
0.00009
|
NM_001379081.2(FREM1):c.4552G>T (p.Ala1518Ser)
|
rs775792241
|
0.00009
|
NM_001382567.1(STIM1):c.408G>C (p.Glu136Asp)
|
rs200648767
|
0.00009
|
NM_001845.6(COL4A1):c.2285T>C (p.Val762Ala)
|
rs374930028
|
0.00009
|
NM_002160.4(TNC):c.3589A>G (p.Ile1197Val)
|
rs138416542
|
0.00009
|
NM_002645.4(PIK3C2A):c.2758A>G (p.Lys920Glu)
|
rs749908394
|
0.00009
|
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val)
|
rs202003805
|
0.00009
|
NM_003738.5(PTCH2):c.1592C>T (p.Ala531Val)
|
rs766965501
|
0.00009
|
NM_004006.3(DMD):c.3281T>C (p.Leu1094Ser)
|
rs876657778
|
0.00009
|
NM_004360.5(CDH1):c.1888C>G (p.Leu630Val)
|
rs2276331
|
0.00009
|
NM_004360.5(CDH1):c.894C>T (p.Ala298=)
|
rs139110184
|
0.00009
|
NM_004900.5(APOBEC3B):c.703A>G (p.Met235Val)
|
rs140420815
|
0.00009
|
NM_005245.4(FAT1):c.1255C>G (p.Leu419Val)
|
rs375942121
|
0.00009
|
NM_006734.4(HIVEP2):c.4832T>A (p.Met1611Lys)
|
rs201466143
|
0.00009
|
NM_006735.4(HOXA2):c.1005G>A (p.Gln335=)
|
rs779536985
|
0.00009
|
NM_006901.4(MYO9A):c.6931T>G (p.Leu2311Val)
|
rs149312322
|
0.00009
|
NM_007118.4(TRIO):c.8824C>G (p.Gln2942Glu)
|
rs377248579
|
0.00009
|
NM_007194.4(CHEK2):c.*7T>C
|
rs121908710
|
0.00009
|
NM_007194.4(CHEK2):c.1217G>A (p.Arg406His)
|
rs200649225
|
0.00009
|
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)
|
rs28909982
|
0.00009
|
NM_007194.4(CHEK2):c.444+1G>A
|
rs121908698
|
0.00009
|
NM_007194.4(CHEK2):c.556A>C (p.Asn186His)
|
rs146198085
|
0.00009
|
NM_007294.4(BRCA1):c.2352G>A (p.Ser784=)
|
rs372017932
|
0.00009
|
NM_007294.4(BRCA1):c.314A>G (p.Tyr105Cys)
|
rs28897673
|
0.00009
|
NM_013319.3(UBIAD1):c.679G>T (p.Ala227Ser)
|
rs368780769
|
0.00009
|
NM_014252.4(SLC25A15):c.147C>G (p.Asp49Glu)
|
rs187685447
|
0.00009
|
NM_015311.3(OBSL1):c.1273dup (p.Thr425fs)
|
rs762334954
|
0.00009
|
NM_015311.3(OBSL1):c.4133C>T (p.Thr1378Met)
|
rs200449388
|
0.00009
|
NM_015909.4(NBAS):c.1438T>C (p.Ser480Pro)
|
rs140555177
|
0.00009
|
NM_019066.5(MAGEL2):c.1468C>G (p.Pro490Ala)
|
rs933647897
|
0.00009
|
NM_020208.4(SLC6A20):c.1A>G (p.Met1Val)
|
rs149885788
|
0.00009
|
NM_020762.4(SRGAP1):c.182C>T (p.Thr61Met)
|
rs778174499
|
0.00009
|
NM_020800.3(IFT80):c.707C>T (p.Ala236Val)
|
rs774857269
|
0.00009
|
NM_020843.4(SCAPER):c.939A>C (p.Lys313Asn)
|
rs755416814
|
0.00009
|
NM_021813.4(BACH2):c.1309G>A (p.Ala437Thr)
|
rs147349828
|
0.00009
|
NM_024675.4(PALB2):c.12T>C (p.Pro4=)
|
rs567706422
|
0.00009
|
NM_024675.4(PALB2):c.1544A>G (p.Lys515Arg)
|
rs515726072
|
0.00009
|
NM_024675.4(PALB2):c.2379C>T (p.Gly793=)
|
rs377626805
|
0.00009
|
NM_024675.4(PALB2):c.3251C>T (p.Ser1084Leu)
|
rs62625271
|
0.00009
|
NM_024675.4(PALB2):c.344G>T (p.Gly115Val)
|
rs145598272
|
0.00009
|
NM_058216.3(RAD51C):c.506T>C (p.Val169Ala)
|
rs587780256
|
0.00009
|
NM_133259.4(LRPPRC):c.2210+4A>C
|
rs190007694
|
0.00009
|
NM_133259.4(LRPPRC):c.587A>C (p.Asn196Thr)
|
rs199727887
|
0.00009
|
NM_145071.4(CISH):c.698G>A (p.Arg233His)
|
rs544358335
|
0.00009
|
NM_153638.4(PANK2):c.131G>T (p.Arg44Leu)
|
rs200253730
|
0.00009
|
NM_182760.4(SUMF1):c.463T>C (p.Ser155Pro)
|
rs137852850
|
0.00009
|
NM_198947.4(FAM111B):c.2140G>A (p.Asp714Asn)
|
rs753918637
|
0.00009
|
NM_201384.3(PLEC):c.3050G>A (p.Arg1017Gln)
|
rs782374414
|
0.00009
|
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly)
|
rs201375478
|
0.00008
|
NM_000051.4(ATM):c.2466+7A>G
|
rs55812024
|
0.00008
|
NM_000059.4(BRCA2):c.3420T>C (p.Ser1140=)
|
rs118093942
|
0.00008
|
NM_000059.4(BRCA2):c.506A>G (p.Lys169Arg)
|
rs80358730
|
0.00008
|
NM_000059.4(BRCA2):c.517-4C>G
|
rs81002804
|
0.00008
|
NM_000059.4(BRCA2):c.5635G>A (p.Glu1879Lys)
|
rs55996097
|
0.00008
|
NM_000059.4(BRCA2):c.6748A>G (p.Thr2250Ala)
|
rs80358899
|
0.00008
|
NM_000059.4(BRCA2):c.9501+3A>T
|
rs61757642
|
0.00008
|
NM_000136.3(FANCC):c.1533+13G>A
|
rs200515307
|
0.00008
|
NM_000179.3(MSH6):c.1474A>G (p.Met492Val)
|
rs61754783
|
0.00008
|
NM_000251.3(MSH2):c.1217G>A (p.Arg406Gln)
|
rs146567853
|
0.00008
|
NM_000251.3(MSH2):c.1488A>G (p.Leu496=)
|
rs267607960
|
0.00008
|
NM_000251.3(MSH2):c.1662-10C>T
|
rs752606387
|
0.00008
|
NM_000251.3(MSH2):c.1690A>G (p.Thr564Ala)
|
rs55778204
|
0.00008
|
NM_000251.3(MSH2):c.4G>A (p.Ala2Thr)
|
rs63750466
|
0.00008
|
NM_000251.3(MSH2):c.913G>A (p.Ala305Thr)
|
rs63751454
|
0.00008
|
NM_000297.4(PKD2):c.2814A>G (p.Gln938=)
|
rs573469832
|
0.00008
|
NM_000443.4(ABCB4):c.1910T>A (p.Ile637Asn)
|
rs202167250
|
0.00008
|
NM_000455.5(STK11):c.598-7G>A
|
rs377502057
|
0.00008
|
NM_000535.7(PMS2):c.1399G>A (p.Val467Ile)
|
rs373611083
|
0.00008
|
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp)
|
rs199739859
|
0.00008
|
NM_000535.7(PMS2):c.1656T>C (p.His552=)
|
rs113726095
|
0.00008
|
NM_001009944.3(PKD1):c.12089C>T (p.Thr4030Ile)
|
rs751776839
|
0.00008
|
NM_001009944.3(PKD1):c.238C>T (p.Arg80Trp)
|
rs551353498
|
0.00008
|
NM_001009944.3(PKD1):c.4512C>T (p.Asp1504=)
|
rs774929658
|
0.00008
|
NM_001048174.2(MUTYH):c.1400G>A (p.Arg467His)
|
rs144111588
|
0.00008
|
NM_001048174.2(MUTYH):c.901G>A (p.Val301Met)
|
rs147718169
|
0.00008
|
NM_001127598.3(IGF2):c.162G>C (p.Gln54His)
|
rs371300605
|
0.00008
|
NM_001134407.3(GRIN2A):c.4353A>T (p.Arg1451Ser)
|
rs143693526
|
0.00008
|
NM_001191057.4(PDE1C):c.1166G>A (p.Arg389His)
|
rs535067434
|
0.00008
|
NM_001278116.2(L1CAM):c.3710C>T (p.Ala1237Val)
|
rs370546591
|
0.00008
|
NM_001291867.2(NHS):c.4294T>C (p.Phe1432Leu)
|
rs181693134
|
0.00008
|
NM_001375524.1(TRRAP):c.6872G>A (p.Ser2291Asn)
|
rs199827128
|
0.00008
|
NM_001429.4(EP300):c.752A>G (p.Asn251Ser)
|
rs142009367
|
0.00008
|
NM_001903.5(CTNNA1):c.2433+224C>G
|
rs763797541
|
0.00008
|
NM_001987.5(ETV6):c.74C>T (p.Pro25Leu)
|
rs550013624
|
0.00008
|
NM_002691.4(POLD1):c.1686+10C>T
|
rs372652150
|
0.00008
|
NM_002878.4(RAD51D):c.355T>C (p.Cys119Arg)
|
rs201313861
|
0.00008
|
NM_004448.4(ERBB2):c.1607G>A (p.Arg536Gln)
|
rs140980495
|
0.00008
|
NM_005005.3(NDUFB9):c.536T>C (p.Met179Thr)
|
rs200683472
|
0.00008
|
NM_005199.5(CHRNG):c.1012T>C (p.Ser338Pro)
|
rs776733115
|
0.00008
|
NM_005529.7(HSPG2):c.2987G>A (p.Arg996His)
|
rs373895855
|
0.00008
|
NM_005996.4(TBX3):c.1009G>A (p.Ala337Thr)
|
rs140580685
|
0.00008
|
NM_006231.4(POLE):c.3378+7G>T
|
rs755370377
|
0.00008
|
NM_006343.3(MERTK):c.1670G>A (p.Arg557Gln)
|
rs374078768
|
0.00008
|
NM_006946.4(SPTBN2):c.5383C>G (p.Gln1795Glu)
|
rs144465703
|
0.00008
|
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr)
|
rs531398630
|
0.00008
|
NM_007294.4(BRCA1):c.3649T>C (p.Ser1217Pro)
|
rs273900712
|
0.00008
|
NM_007294.4(BRCA1):c.4644G>A (p.Thr1548=)
|
rs28897692
|
0.00008
|
NM_007294.4(BRCA1):c.4882A>G (p.Met1628Val)
|
rs80357465
|
0.00008
|
NM_007294.4(BRCA1):c.5123C>T (p.Ala1708Val)
|
rs28897696
|
0.00008
|
NM_007294.4(BRCA1):c.884A>G (p.Asp295Gly)
|
rs772684048
|
0.00008
|
NM_012203.2(GRHPR):c.690C>A (p.Phe230Leu)
|
rs185747820
|
0.00008
|
NM_014014.5(SNRNP200):c.5432C>T (p.Ala1811Val)
|
rs199511035
|
0.00008
|
NM_016169.4(SUFU):c.1028G>A (p.Arg343His)
|
rs79299301
|
0.00008
|
NM_017547.4(FOXRED1):c.772G>A (p.Asp258Asn)
|
rs746325021
|
0.00008
|
NM_018669.6(WDR4):c.527C>T (p.Ala176Val)
|
rs373758825
|
0.00008
|
NM_020338.4(ZMIZ1):c.2989G>A (p.Ala997Thr)
|
rs200050423
|
0.00008
|
NM_021870.3(FGG):c.685G>A (p.Asp229Asn)
|
rs754328933
|
0.00008
|
NM_021926.4(ALX4):c.627C>A (p.Ser209Arg)
|
rs568863681
|
0.00008
|
NM_024675.4(PALB2):c.2509G>A (p.Glu837Lys)
|
rs587778587
|
0.00008
|
NM_032237.5(POMK):c.704A>G (p.Asn235Ser)
|
rs200742772
|
0.00008
|
NM_032525.3(TUBB6):c.257G>A (p.Arg86Gln)
|
rs143181795
|
0.00008
|
NM_032578.4(MYPN):c.2876G>A (p.Gly959Asp)
|
rs771893315
|
0.00008
|
NM_080425.4(GNAS):c.538C>T (p.Gln180Ter)
|
rs200910410
|
0.00008
|
NM_144596.4(TTC8):c.624+2767T>C
|
rs200350286
|
0.00008
|
NM_194248.3(OTOF):c.5623G>A (p.Val1875Met)
|
rs370691004
|
0.00008
|
NM_198129.4(LAMA3):c.2234G>A (p.Arg745Gln)
|
rs200367371
|
0.00008
|
NC_000003.12:g.15521748T>C
|
rs201450724
|
0.00007
|
NC_000011.10:g.121448322T>C
|
rs764240317
|
0.00007
|
NC_000012.12:g.117361876C>T
|
rs140267605
|
0.00007
|
NM_000038.6(APC):c.3624C>T (p.Thr1208=)
|
rs730882125
|
0.00007
|
NM_000051.4(ATM):c.125A>G (p.His42Arg)
|
rs201773026
|
0.00007
|
NM_000051.4(ATM):c.2021A>G (p.His674Arg)
|
rs201762714
|
0.00007
|
NM_000051.4(ATM):c.2149C>T (p.Arg717Trp)
|
rs147515380
|
0.00007
|
NM_000051.4(ATM):c.3403-14A>G
|
rs941737393
|
0.00007
|
NM_000051.4(ATM):c.496+4T>C
|
rs587781375
|
0.00007
|
NM_000051.4(ATM):c.902G>A (p.Gly301Asp)
|
rs202208861
|
0.00007
|
NM_000059.4(BRCA2):c.1167G>A (p.Pro389=)
|
rs148607710
|
0.00007
|
NM_000059.4(BRCA2):c.1644G>A (p.Gln548=)
|
rs55986646
|
0.00007
|
NM_000059.4(BRCA2):c.9949C>T (p.Leu3317=)
|
rs777488349
|
0.00007
|
NM_000123.4(ERCC5):c.1106C>T (p.Ala369Val)
|
rs773179441
|
0.00007
|
NM_000123.4(ERCC5):c.48G>A (p.Gln16=)
|
rs202038276
|
0.00007
|
NM_000249.4(MLH1):c.1379A>C (p.Glu460Ala)
|
rs202038499
|
0.00007
|
NM_000249.4(MLH1):c.277A>G (p.Ser93Gly)
|
rs41295282
|
0.00007
|
NM_000249.4(MLH1):c.42A>C (p.Thr14=)
|
rs369737664
|
0.00007
|
NM_000249.4(MLH1):c.649C>T (p.Arg217Cys)
|
rs4986984
|
0.00007
|
NM_000251.3(MSH2):c.1560A>G (p.Gly520=)
|
rs63750820
|
0.00007
|
NM_000251.3(MSH2):c.2732T>G (p.Leu911Arg)
|
rs41295182
|
0.00007
|
NM_000392.5(ABCC2):c.2461A>G (p.Ser821Gly)
|
rs147649283
|
0.00007
|
NM_000535.7(PMS2):c.1280G>A (p.Arg427His)
|
rs112902065
|
0.00007
|
NM_000535.7(PMS2):c.230A>C (p.Glu77Ala)
|
rs777095030
|
0.00007
|
NM_001009944.3(PKD1):c.10101C>T (p.Ile3367=)
|
rs535964972
|
0.00007
|
NM_001009944.3(PKD1):c.413G>A (p.Arg138Gln)
|
rs2515725
|
0.00007
|
NM_001009944.3(PKD1):c.8110G>A (p.Ala2704Thr)
|
rs555901411
|
0.00007
|
NM_001048174.2(MUTYH):c.262C>T (p.Arg88Trp)
|
rs373766973
|
0.00007
|
NM_001079537.2(TRAPPC6B):c.149+12G>A
|
rs199502988
|
0.00007
|
NM_001102416.3(KNG1):c.1234G>A (p.Ala412Thr)
|
rs553330895
|
0.00007
|
NM_001110792.2(MECP2):c.1096C>T (p.Arg366Cys)
|
rs143876280
|
0.00007
|
NM_001243279.3(ACSF3):c.392C>T (p.Ala131Val)
|
rs148768970
|
0.00007
|
NM_001256317.3(TMPRSS3):c.1076C>T (p.Ala359Val)
|
rs200777266
|
0.00007
|
NM_001267550.2(TTN):c.95962G>A (p.Val31988Met)
|
rs756469423
|
0.00007
|
NM_001369369.1(FOXN1):c.704C>T (p.Ser235Leu)
|
rs756784275
|
0.00007
|
NM_001655.5(ARCN1):c.1292A>G (p.His431Arg)
|
rs199564099
|
0.00007
|
NM_002272.4(KRT4):c.364C>G (p.Leu122Val)
|
rs758695571
|
0.00007
|
NM_002691.4(POLD1):c.2988G>A (p.Thr996=)
|
rs542996664
|
0.00007
|
NM_002878.4(RAD51D):c.394G>A (p.Val132Ile)
|
rs201141245
|
0.00007
|
NM_003504.5(CDC45):c.441C>G (p.Asp147Glu)
|
rs778459455
|
0.00007
|
NM_004006.3(DMD):c.8053G>A (p.Glu2685Lys)
|
rs748937055
|
0.00007
|
NM_004260.4(RECQL4):c.2743A>G (p.Met915Val)
|
rs374898583
|
0.00007
|
NM_004281.4(BAG3):c.892G>A (p.Val298Met)
|
rs150048651
|
0.00007
|
NM_004360.5(CDH1):c.1297G>A (p.Asp433Asn)
|
rs199886166
|
0.00007
|
NM_004360.5(CDH1):c.1298A>G (p.Asp433Gly)
|
rs376097289
|
0.00007
|
NM_004385.5(VCAN):c.3373C>T (p.Arg1125Cys)
|
rs762299976
|
0.00007
|
NM_004618.5(TOP3A):c.1643G>A (p.Arg548Gln)
|
rs151096656
|
0.00007
|
NM_004700.4(KCNQ4):c.419T>C (p.Ile140Thr)
|
rs200053059
|
0.00007
|
NM_004744.5(LRAT):c.80C>G (p.Ser27Trp)
|
rs141705269
|
0.00007
|
NM_005236.3(ERCC4):c.2734G>A (p.Gly912Arg)
|
rs150077735
|
0.00007
|
NM_006031.6(PCNT):c.4193C>T (p.Thr1398Met)
|
rs369257031
|
0.00007
|
NM_007194.4(CHEK2):c.1141A>G (p.Met381Val)
|
rs375130261
|
0.00007
|
NM_007194.4(CHEK2):c.14C>T (p.Ser5Leu)
|
rs201084748
|
0.00007
|
NM_007294.4(BRCA1):c.-19-10T>C
|
rs201866997
|
0.00007
|
NM_007294.4(BRCA1):c.1865C>T (p.Ala622Val)
|
rs56039126
|
0.00007
|
NM_007294.4(BRCA1):c.3783A>G (p.Leu1261=)
|
rs80356831
|
0.00007
|
NM_007294.4(BRCA1):c.692C>T (p.Thr231Met)
|
rs80357001
|
0.00007
|
NM_017534.6(MYH2):c.3683G>A (p.Ser1228Asn)
|
rs147439455
|
0.00007
|
NM_017617.5(NOTCH1):c.3853G>A (p.Val1285Met)
|
rs756972680
|
0.00007
|
NM_017617.5(NOTCH1):c.7397C>T (p.Thr2466Met)
|
rs369167555
|
0.00007
|
NM_018249.6(CDK5RAP2):c.4235C>A (p.Ser1412Tyr)
|
rs201387927
|
0.00007
|
NM_022458.4(LMBR1):c.535A>T (p.Met179Leu)
|
rs138964269
|
0.00007
|
NM_024675.4(PALB2):c.2100A>T (p.Ser700=)
|
rs757145884
|
0.00007
|
NM_024675.4(PALB2):c.2200A>T (p.Thr734Ser)
|
rs45543843
|
0.00007
|
NM_032119.4(ADGRV1):c.9466A>G (p.Ile3156Val)
|
rs372484022
|
0.00007
|
NM_032383.5(HPS3):c.1773G>A (p.Thr591=)
|
rs559550536
|
0.00007
|
NM_032427.4(MAML2):c.1393C>T (p.Pro465Ser)
|
rs185002555
|
0.00007
|
NM_057093.2(CRYBA2):c.286C>T (p.Arg96Trp)
|
rs576572225
|
0.00007
|
NM_138694.4(PKHD1):c.8870T>C (p.Ile2957Thr)
|
rs760222236
|
0.00007
|
NM_177438.3(DICER1):c.5276A>G (p.Lys1759Arg)
|
rs144259142
|
0.00007
|
NM_000038.6(APC):c.1005A>G (p.Leu335=)
|
rs3797704
|
0.00006
|
NM_000038.6(APC):c.3632T>G (p.Met1211Arg)
|
rs575268622
|
0.00006
|
NM_000038.6(APC):c.4072G>A (p.Ala1358Thr)
|
rs139618756
|
0.00006
|
NM_000038.6(APC):c.5026A>G (p.Arg1676Gly)
|
rs370560998
|
0.00006
|
NM_000038.6(APC):c.5140G>A (p.Asp1714Asn)
|
rs148275069
|
0.00006
|
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr)
|
rs372305287
|
0.00006
|
NM_000038.6(APC):c.7468G>A (p.Asp2490Asn)
|
rs538230198
|
0.00006
|
NM_000038.6(APC):c.789T>A (p.Gly263=)
|
rs767053295
|
0.00006
|
NM_000038.6(APC):c.8107A>G (p.Lys2703Glu)
|
rs730881270
|
0.00006
|
NM_000051.4(ATM):c.1010G>A (p.Arg337His)
|
rs202160435
|
0.00006
|
NM_000051.4(ATM):c.198A>G (p.Lys66=)
|
rs540920248
|
0.00006
|
NM_000051.4(ATM):c.2275A>G (p.Ser759Gly)
|
rs148705269
|
0.00006
|
NM_000051.4(ATM):c.2804C>T (p.Thr935Met)
|
rs3218708
|
0.00006
|
NM_000051.4(ATM):c.3689A>G (p.Asn1230Ser)
|
rs587782195
|
0.00006
|
NM_000051.4(ATM):c.6315G>C (p.Arg2105Ser)
|
rs587780632
|
0.00006
|
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly)
|
rs28904921
|
0.00006
|
NM_000051.4(ATM):c.8495G>A (p.Arg2832His)
|
rs529296539
|
0.00006
|
NM_000051.4(ATM):c.8921C>T (p.Pro2974Leu)
|
rs139379666
|
0.00006
|
NM_000059.4(BRCA2):c.1011C>T (p.Asn337=)
|
rs41293473
|
0.00006
|
NM_000059.4(BRCA2):c.1362A>G (p.Lys454=)
|
rs55919657
|
0.00006
|
NM_000059.4(BRCA2):c.1662T>G (p.Cys554Trp)
|
rs80358451
|
0.00006
|
NM_000059.4(BRCA2):c.2320A>G (p.Thr774Ala)
|
rs55968715
|
0.00006
|
NM_000059.4(BRCA2):c.3073A>G (p.Lys1025Glu)
|
rs80358550
|
0.00006
|
NM_000059.4(BRCA2):c.4578A>G (p.Thr1526=)
|
rs202022822
|
0.00006
|
NM_000059.4(BRCA2):c.4828G>A (p.Val1610Met)
|
rs80358705
|
0.00006
|
NM_000059.4(BRCA2):c.6325G>A (p.Val2109Ile)
|
rs79456940
|
0.00006
|
NM_000059.4(BRCA2):c.7051G>A (p.Ala2351Thr)
|
rs80358930
|
0.00006
|
NM_000059.4(BRCA2):c.7057G>C (p.Gly2353Arg)
|
rs80358935
|
0.00006
|
NM_000059.4(BRCA2):c.831T>G (p.Asn277Lys)
|
rs28897705
|
0.00006
|
NM_000136.3(FANCC):c.1607T>C (p.Leu536Pro)
|
rs587779903
|
0.00006
|
NM_000136.3(FANCC):c.609C>T (p.Leu203=)
|
rs567226063
|
0.00006
|
NM_000146.4(FTL):c.155T>G (p.Phe52Cys)
|
rs543242420
|
0.00006
|
NM_000158.4(GBE1):c.2035C>T (p.Arg679Cys)
|
rs202158511
|
0.00006
|
NM_000179.3(MSH6):c.1050C>T (p.Ala350=)
|
rs730881802
|
0.00006
|
NM_000179.3(MSH6):c.178T>C (p.Leu60=)
|
rs35819209
|
0.00006
|
NM_000179.3(MSH6):c.3282A>T (p.Ser1094=)
|
rs372996269
|
0.00006
|
NM_000179.3(MSH6):c.3824G>A (p.Cys1275Tyr)
|
rs150990541
|
0.00006
|
NM_000179.3(MSH6):c.926C>G (p.Ser309Cys)
|
rs544222338
|
0.00006
|
NM_000180.4(GUCY2D):c.647C>T (p.Thr216Ile)
|
rs747354016
|
0.00006
|
NM_000249.4(MLH1):c.1013A>G (p.Asn338Ser)
|
rs63751467
|
0.00006
|
NM_000249.4(MLH1):c.2174G>A (p.Arg725His)
|
rs566928243
|
0.00006
|
NM_000249.4(MLH1):c.69A>G (p.Glu23=)
|
rs63750555
|
0.00006
|
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys)
|
rs63750796
|
0.00006
|
NM_000251.3(MSH2):c.2271C>T (p.Tyr757=)
|
rs56076152
|
0.00006
|
NM_000251.3(MSH2):c.2400A>G (p.Leu800=)
|
rs201298777
|
0.00006
|
NM_000251.3(MSH2):c.382C>G (p.Leu128Val)
|
rs145649774
|
0.00006
|
NM_000251.3(MSH2):c.499G>C (p.Asp167His)
|
rs63750255
|
0.00006
|
NM_000251.3(MSH2):c.944G>T (p.Gly315Val)
|
rs202026056
|
0.00006
|
NM_000301.5(PLG):c.646G>A (p.Ala216Thr)
|
rs374234922
|
0.00006
|
NM_000359.3(TGM1):c.376C>T (p.Arg126Cys)
|
rs397514524
|
0.00006
|
NM_000392.5(ABCC2):c.3547C>A (p.Leu1183Met)
|
rs145008610
|
0.00006
|
NM_000435.3(NOTCH3):c.2000G>A (p.Gly667Asp)
|
rs370386680
|
0.00006
|
NM_000455.5(STK11):c.1257C>T (p.Ser419=)
|
rs375328708
|
0.00006
|
NM_000455.5(STK11):c.125G>T (p.Arg42Leu)
|
rs148830698
|
0.00006
|
NM_000455.5(STK11):c.921-10G>A
|
rs183406870
|
0.00006
|
NM_000460.4(THPO):c.649G>A (p.Gly217Arg)
|
rs748880497
|
0.00006
|
NM_000465.4(BARD1):c.1586G>A (p.Arg529Gln)
|
rs753479021
|
0.00006
|
NM_000465.4(BARD1):c.722C>G (p.Ser241Cys)
|
rs3738885
|
0.00006
|
NM_000492.4(CFTR):c.3140-26A>G
|
rs76151804
|
0.00006
|
NM_000535.7(PMS2):c.1145-10G>A
|
rs533551639
|
0.00006
|
NM_000535.7(PMS2):c.1379G>A (p.Gly460Asp)
|
rs150201462
|
0.00006
|
NM_000535.7(PMS2):c.1510G>C (p.Glu504Gln)
|
rs368516768
|
0.00006
|
NM_000535.7(PMS2):c.1937G>T (p.Arg646Met)
|
rs372341850
|
0.00006
|
NM_000535.7(PMS2):c.477G>A (p.Val159=)
|
rs147701251
|
0.00006
|
NM_000535.7(PMS2):c.632G>A (p.Arg211Gln)
|
rs587781934
|
0.00006
|
NM_000535.7(PMS2):c.944G>A (p.Arg315Gln)
|
rs116314131
|
0.00006
|
NM_000660.7(TGFB1):c.613C>T (p.Arg205Trp)
|
rs199882566
|
0.00006
|
NM_000702.4(ATP1A2):c.193C>T (p.Arg65Trp)
|
rs121918619
|
0.00006
|
NM_001001433.3(STX16):c.776C>T (p.Ala259Val)
|
rs371863588
|
0.00006
|
NM_001009944.3(PKD1):c.11627C>T (p.Ala3876Val)
|
rs759962601
|
0.00006
|
NM_001009944.3(PKD1):c.11978C>T (p.Ser3993Leu)
|
rs775512866
|
0.00006
|
NM_001009944.3(PKD1):c.12171C>T (p.Ser4057=)
|
rs140154490
|
0.00006
|
NM_001009944.3(PKD1):c.2949T>C (p.Asn983=)
|
rs766568622
|
0.00006
|
NM_001009944.3(PKD1):c.4905G>A (p.Leu1635=)
|
rs748967532
|
0.00006
|
NM_001009944.3(PKD1):c.6954C>T (p.Arg2318=)
|
rs1209701736
|
0.00006
|
NM_001009944.3(PKD1):c.8146A>G (p.Ile2716Val)
|
rs1353004865
|
0.00006
|
NM_001009944.3(PKD1):c.8963C>T (p.Ala2988Val)
|
rs765076655
|
0.00006
|
NM_001009944.3(PKD1):c.8994C>T (p.His2998=)
|
rs776013663
|
0.00006
|
NM_001009944.3(PKD1):c.910C>T (p.Arg304Cys)
|
rs543328728
|
0.00006
|
NM_001048174.2(MUTYH):c.1156C>T (p.Gln386Ter)
|
rs766420907
|
0.00006
|
NM_001129820.2(SLFN14):c.2045C>T (p.Thr682Ile)
|
rs187022223
|
0.00006
|
NM_001134831.2(AHI1):c.2794C>T (p.Arg932Cys)
|
rs370101143
|
0.00006
|
NM_001145358.2(SIN3A):c.843G>A (p.Gln281=)
|
rs765920177
|
0.00006
|
NM_001197224.4(BEAN1):c.212G>A (p.Arg71His)
|
rs763587014
|
0.00006
|
NM_001197224.4(BEAN1):c.240C>A (p.Gly80=)
|
rs1298714588
|
0.00006
|
NM_001267550.2(TTN):c.9512A>G (p.Asn3171Ser)
|
rs139992576
|
0.00006
|
NM_001271.4(CHD2):c.4978G>A (p.Asp1660Asn)
|
rs61752830
|
0.00006
|
NM_001271803.2(REEP2):c.524G>A (p.Arg175Gln)
|
rs199638172
|
0.00006
|
NM_001374353.1(GLI2):c.67G>A (p.Ala23Thr)
|
rs201834541
|
0.00006
|
NM_001378615.1(CC2D2A):c.647C>T (p.Ala216Val)
|
rs768733110
|
0.00006
|
NM_001429.4(EP300):c.6649G>A (p.Val2217Ile)
|
rs368554118
|
0.00006
|
NM_001458.5(FLNC):c.7090C>T (p.Arg2364Cys)
|
rs374973240
|
0.00006
|
NM_001849.4(COL6A2):c.188C>T (p.Thr63Met)
|
rs201094892
|
0.00006
|
NM_001854.4(COL11A1):c.3136G>A (p.Gly1046Arg)
|
rs760387652
|
0.00006
|
NM_002048.3(GAS1):c.-67C>T
|
rs556300006
|
0.00006
|
NM_002055.5(GFAP):c.1247G>A (p.Arg416Gln)
|
rs201270155
|
0.00006
|
NM_002439.5(MSH3):c.169G>C (p.Ala57Pro)
|
rs144776112
|
0.00006
|
NM_002485.5(NBN):c.1398-10T>A
|
rs539960851
|
0.00006
|
NM_002485.5(NBN):c.819A>T (p.Thr273=)
|
rs147660518
|
0.00006
|
NM_002485.5(NBN):c.930T>A (p.Ile310=)
|
rs142813526
|
0.00006
|
NM_002878.4(RAD51D):c.629C>T (p.Ala210Val)
|
rs376855484
|
0.00006
|
NM_002878.4(RAD51D):c.715C>T (p.Arg239Trp)
|
rs770250516
|
0.00006
|
NM_002878.4(RAD51D):c.957G>A (p.Gln319=)
|
rs147669627
|
0.00006
|
NM_003179.3(SYP):c.54G>A (p.Gln18=)
|
rs781815856
|
0.00006
|
NM_003200.5(TCF3):c.1541C>T (p.Ser514Leu)
|
rs372168347
|
0.00006
|
NM_003597.5(KLF11):c.1246C>T (p.Arg416Cys)
|
rs369331650
|
0.00006
|
NM_003737.4(DCHS1):c.1595C>T (p.Thr532Met)
|
rs775257367
|
0.00006
|
NM_004304.5(ALK):c.2011C>T (p.Pro671Ser)
|
rs145780832
|
0.00006
|
NM_004360.5(CDH1):c.1241C>A (p.Thr414Asn)
|
rs755571454
|
0.00006
|
NM_004360.5(CDH1):c.214G>A (p.Asp72Asn)
|
rs35606263
|
0.00006
|
NM_004360.5(CDH1):c.2637C>T (p.Gly879=)
|
rs141001592
|
0.00006
|
NM_004360.5(CDH1):c.393C>T (p.Ser131=)
|
rs145430811
|
0.00006
|
NM_004360.5(CDH1):c.48+15_48+16del
|
rs730881655
|
0.00006
|
NM_004360.5(CDH1):c.846G>A (p.Met282Ile)
|
rs200932258
|
0.00006
|
NM_004370.6(COL12A1):c.1574A>T (p.Tyr525Phe)
|
rs756100330
|
0.00006
|
NM_004385.5(VCAN):c.2618T>G (p.Ile873Arg)
|
rs150395515
|
0.00006
|
NM_004525.3(LRP2):c.6650G>A (p.Arg2217His)
|
rs369240219
|
0.00006
|
NM_004562.3(PRKN):c.1112C>T (p.Ala371Val)
|
rs375036403
|
0.00006
|
NM_004655.4(AXIN2):c.623C>T (p.Ala208Val)
|
rs201531372
|
0.00006
|
NM_004991.4(MECOM):c.2611G>A (p.Ala871Thr)
|
rs371057960
|
0.00006
|
NM_006231.4(POLE):c.1288G>A (p.Ala430Thr)
|
rs140566004
|
0.00006
|
NM_006231.4(POLE):c.1794+5C>T
|
rs200095915
|
0.00006
|
NM_006231.4(POLE):c.2468+12C>T
|
rs776938447
|
0.00006
|
NM_006231.4(POLE):c.6716C>T (p.Ala2239Val)
|
rs190813054
|
0.00006
|
NM_006947.4(SRP72):c.133G>A (p.Val45Ile)
|
rs201940585
|
0.00006
|
NM_007124.3(UTRN):c.8436G>A (p.Thr2812=)
|
rs562246998
|
0.00006
|
NM_007194.4(CHEK2):c.1023C>T (p.Asn341=)
|
rs377668478
|
0.00006
|
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu)
|
rs587780180
|
0.00006
|
NM_007194.4(CHEK2):c.539G>A (p.Arg180His)
|
rs137853009
|
0.00006
|
NM_007194.4(CHEK2):c.542G>A (p.Arg181His)
|
rs121908701
|
0.00006
|
NM_007194.4(CHEK2):c.688G>T (p.Ala230Ser)
|
rs748636216
|
0.00006
|
NM_007294.4(BRCA1):c.1392C>T (p.Thr464=)
|
rs533802049
|
0.00006
|
NM_007294.4(BRCA1):c.1534C>T (p.Leu512Phe)
|
rs41286294
|
0.00006
|
NM_007294.4(BRCA1):c.1617G>A (p.Thr539=)
|
rs372002119
|
0.00006
|
NM_007294.4(BRCA1):c.2412G>C (p.Gln804His)
|
rs55746541
|
0.00006
|
NM_007294.4(BRCA1):c.2428A>T (p.Asn810Tyr)
|
rs28897682
|
0.00006
|
NM_007294.4(BRCA1):c.2522G>A (p.Arg841Gln)
|
rs80357337
|
0.00006
|
NM_007294.4(BRCA1):c.3640G>A (p.Glu1214Lys)
|
rs80356923
|
0.00006
|
NM_007294.4(BRCA1):c.3739G>A (p.Val1247Ile)
|
rs80357191
|
0.00006
|
NM_007294.4(BRCA1):c.4213A>G (p.Ile1405Val)
|
rs80357353
|
0.00006
|
NM_007294.4(BRCA1):c.4636G>A (p.Asp1546Asn)
|
rs28897691
|
0.00006
|
NM_007294.4(BRCA1):c.5278-14C>G
|
rs80358105
|
0.00006
|
NM_007294.4(BRCA1):c.946A>G (p.Ser316Gly)
|
rs55874646
|
0.00006
|
NM_007332.3(TRPA1):c.2821C>A (p.Leu941Ile)
|
rs762183740
|
0.00006
|
NM_012203.2(GRHPR):c.34A>G (p.Thr12Ala)
|
rs761847384
|
0.00006
|
NM_013275.6(ANKRD11):c.192G>A (p.Ala64=)
|
rs200665093
|
0.00006
|
NM_014249.4(NR2E3):c.953C>T (p.Thr318Met)
|
rs755224888
|
0.00006
|
NM_014363.6(SACS):c.2423T>C (p.Leu808Pro)
|
rs923118368
|
0.00006
|
NM_015272.5(RPGRIP1L):c.279G>C (p.Glu93Asp)
|
rs762264695
|
0.00006
|
NM_016247.4(IMPG2):c.2819A>G (p.Gln940Arg)
|
rs373286123
|
0.00006
|
NM_017777.4(MKS1):c.10A>T (p.Thr4Ser)
|
rs928775924
|
0.00006
|
NM_020680.4(SCYL1):c.1097G>A (p.Arg366His)
|
rs764376000
|
0.00006
|
NM_023083.4(CAPN10):c.960G>A (p.Pro320=)
|
rs201300160
|
0.00006
|
NM_024411.5(PDYN):c.268G>A (p.Gly90Arg)
|
rs201585283
|
0.00006
|
NM_024675.4(PALB2):c.1273G>A (p.Val425Met)
|
rs576081828
|
0.00006
|
NM_024675.4(PALB2):c.765T>C (p.Asp255=)
|
rs45465299
|
0.00006
|
NM_024675.4(PALB2):c.768C>T (p.Ser256=)
|
rs45487491
|
0.00006
|
NM_024753.5(TTC21B):c.2305A>T (p.Thr769Ser)
|
rs373564710
|
0.00006
|
NM_032043.3(BRIP1):c.2087C>T (p.Pro696Leu)
|
rs147755155
|
0.00006
|
NM_032043.3(BRIP1):c.3103C>T (p.Arg1035Cys)
|
rs45437094
|
0.00006
|
NM_032043.3(BRIP1):c.550G>T (p.Asp184Tyr)
|
rs201047375
|
0.00006
|
NM_032043.3(BRIP1):c.918+1G>A
|
rs587781655
|
0.00006
|
NM_032383.5(HPS3):c.159G>T (p.Gln53His)
|
rs774480483
|
0.00006
|
NM_058216.3(RAD51C):c.870T>A (p.Ile290=)
|
rs376402418
|
0.00006
|
NM_138426.4(GLCCI1):c.1382G>C (p.Cys461Ser)
|
rs201269303
|
0.00006
|
NM_138694.4(PKHD1):c.171A>G (p.Gln57=)
|
rs543640706
|
0.00006
|
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)
|
rs200391019
|
0.00006
|
NM_138959.3(VANGL1):c.715G>A (p.Val239Ile)
|
rs121918218
|
0.00006
|
NM_152618.3(BBS12):c.1507G>T (p.Val503Leu)
|
rs374865012
|
0.00006
|
NM_153046.3(TDRD9):c.292T>G (p.Cys98Gly)
|
rs755011079
|
0.00006
|
NM_170606.3(KMT2C):c.13522C>T (p.Pro4508Ser)
|
rs182572555
|
0.00006
|
NM_178857.6(RP1L1):c.1268G>C (p.Arg423Pro)
|
rs566321002
|
0.00006
|
NM_181882.3(PRX):c.4112G>A (p.Arg1371Gln)
|
rs377009047
|
0.00006
|
NM_182961.4(SYNE1):c.21706G>A (p.Ala7236Thr)
|
rs202121741
|
0.00006
|
NM_198129.4(LAMA3):c.3827C>T (p.Pro1276Leu)
|
rs749103134
|
0.00006
|
NM_212482.4(FN1):c.3289G>A (p.Glu1097Lys)
|
rs753807100
|
0.00006
|
NC_000022.11:g.36821535G>T
|
rs201179009
|
0.00005
|
NM_000038.6(APC):c.5879C>T (p.Pro1960Leu)
|
rs587781546
|
0.00005
|
NM_000038.6(APC):c.7986G>A (p.Glu2662=)
|
rs571645304
|
0.00005
|
NM_000051.4(ATM):c.2220A>G (p.Ala740=)
|
rs56353517
|
0.00005
|
NM_000051.4(ATM):c.2919A>G (p.Leu973=)
|
rs587779829
|
0.00005
|
NM_000051.4(ATM):c.6160G>T (p.Ala2054Ser)
|
rs587779853
|
0.00005
|
NM_000059.4(BRCA2):c.2550A>G (p.Gln850=)
|
rs80359785
|
0.00005
|
NM_000059.4(BRCA2):c.426-37T>A
|
rs81002859
|
0.00005
|
NM_000059.4(BRCA2):c.5985C>T (p.Asn1995=)
|
rs374620036
|
0.00005
|
NM_000059.4(BRCA2):c.7052C>G (p.Ala2351Gly)
|
rs80358932
|
0.00005
|
NM_000059.4(BRCA2):c.8092G>A (p.Ala2698Thr)
|
rs80359052
|
0.00005
|
NM_000059.4(BRCA2):c.8525G>A (p.Arg2842His)
|
rs80359105
|
0.00005
|
NM_000059.4(BRCA2):c.9275A>G (p.Tyr3092Cys)
|
rs80359195
|
0.00005
|
NM_000080.4(CHRNE):c.1168C>T (p.Arg390Trp)
|
rs140763858
|
0.00005
|
NM_000136.3(FANCC):c.1425A>G (p.Thr475=)
|
rs199739450
|
0.00005
|
NM_000179.3(MSH6):c.147C>T (p.Ala49=)
|
rs768803986
|
0.00005
|
NM_000179.3(MSH6):c.2173A>G (p.Ile725Val)
|
rs148898662
|
0.00005
|
NM_000179.3(MSH6):c.2239C>T (p.Leu747=)
|
rs63751305
|
0.00005
|
NM_000179.3(MSH6):c.3399T>C (p.Thr1133=)
|
rs61748084
|
0.00005
|
NM_000179.3(MSH6):c.3425C>T (p.Thr1142Met)
|
rs267608089
|
0.00005
|
NM_000179.3(MSH6):c.3762A>T (p.Glu1254Asp)
|
rs375459388
|
0.00005
|
NM_000179.3(MSH6):c.3852G>A (p.Thr1284=)
|
rs2229018
|
0.00005
|
NM_000249.4(MLH1):c.1128T>C (p.Asp376=)
|
rs267607824
|
0.00005
|
NM_000249.4(MLH1):c.1153C>T (p.Arg385Cys)
|
rs63750760
|
0.00005
|
NM_000249.4(MLH1):c.1937A>G (p.Tyr646Cys)
|
rs35045067
|
0.00005
|
NM_000249.4(MLH1):c.438A>G (p.Gln146=)
|
rs377279035
|
0.00005
|
NM_000251.3(MSH2):c.1774A>G (p.Met592Val)
|
rs371614039
|
0.00005
|
NM_000328.3(RPGR):c.2152T>C (p.Tyr718His)
|
rs762173989
|
0.00005
|
NM_000388.4(CASR):c.779A>G (p.Gln260Arg)
|
rs200386687
|
0.00005
|
NM_000447.3(PSEN2):c.208G>A (p.Gly70Arg)
|
rs139972151
|
0.00005
|
NM_000455.5(STK11):c.465-5C>T
|
rs567202367
|
0.00005
|
NM_000455.5(STK11):c.666C>T (p.Pro222=)
|
rs542189325
|
0.00005
|
NM_000455.5(STK11):c.678C>T (p.Asn226=)
|
rs748832988
|
0.00005
|
NM_000455.5(STK11):c.920+6C>T
|
rs730881964
|
0.00005
|
NM_000465.4(BARD1):c.-4G>A
|
rs761863671
|
0.00005
|
NM_000484.4(APP):c.47G>A (p.Arg16Gln)
|
rs955517095
|
0.00005
|
NM_000535.7(PMS2):c.1432A>G (p.Ser478Gly)
|
rs144389038
|
0.00005
|
NM_000540.3(RYR1):c.7844G>A (p.Arg2615His)
|
rs145183043
|
0.00005
|
NM_000553.6(WRN):c.2735T>G (p.Ile912Ser)
|
rs11574323
|
0.00005
|
NM_000875.5(IGF1R):c.788C>T (p.Ala263Val)
|
rs375677658
|
0.00005
|
NM_001009944.3(PKD1):c.2183A>G (p.His728Arg)
|
rs1050939771
|
0.00005
|
NM_001009944.3(PKD1):c.4056C>T (p.Ser1352=)
|
rs756229724
|
0.00005
|
NM_001009944.3(PKD1):c.4572C>T (p.Thr1524=)
|
rs759043048
|
0.00005
|
NM_001009944.3(PKD1):c.8191G>A (p.Val2731Met)
|
rs138906895
|
0.00005
|
NM_001009944.3(PKD1):c.9136C>T (p.Arg3046Cys)
|
rs773857360
|
0.00005
|
NM_001009944.3(PKD1):c.9990C>T (p.Ser3330=)
|
rs770635587
|
0.00005
|
NM_001042492.3(NF1):c.1588G>A (p.Val530Ile)
|
rs145191978
|
0.00005
|
NM_001082486.2(ACD):c.1168G>A (p.Gly390Arg)
|
rs553014261
|
0.00005
|
NM_001083116.3(PRF1):c.749C>T (p.Thr250Met)
|
rs775966864
|
0.00005
|
NM_001128918.3(MARK3):c.125C>T (p.Ser42Phe)
|
rs551785219
|
0.00005
|
NM_001145809.2(MYH14):c.3704C>T (p.Thr1235Met)
|
rs200988515
|
0.00005
|
NM_001204288.2(MUC1):c.493G>A (p.Gly165Ser)
|
rs758786611
|
0.00005
|
NM_001264.5(CDSN):c.275C>T (p.Ser92Phe)
|
rs761952633
|
0.00005
|
NM_001267550.2(TTN):c.64903C>T (p.Arg21635Cys)
|
rs201614524
|
0.00005
|
NM_001283009.2(RTEL1):c.3178G>A (p.Val1060Met)
|
rs116768542
|
0.00005
|
NM_001371623.1(TCOF1):c.3628C>T (p.Pro1210Ser)
|
rs558530968
|
0.00005
|
NM_001371928.1(AHDC1):c.481G>A (p.Gly161Ser)
|
rs765209526
|
0.00005
|
NM_001378418.1(TCF20):c.3877G>C (p.Asp1293His)
|
rs374767438
|
0.00005
|
NM_001379150.1(IRS4):c.1907C>T (p.Pro636Leu)
|
rs147837017
|
0.00005
|
NM_001853.4(COL9A3):c.658G>A (p.Gly220Ser)
|
rs148246522
|
0.00005
|
NM_002016.2(FLG):c.10747G>A (p.Glu3583Lys)
|
rs144652887
|
0.00005
|
NM_002160.4(TNC):c.3413C>T (p.Thr1138Met)
|
rs371671996
|
0.00005
|
NM_002447.4(MST1R):c.979G>A (p.Ala327Thr)
|
rs200757776
|
0.00005
|
NM_003265.3(TLR3):c.1585C>T (p.Leu529Phe)
|
rs201222071
|
0.00005
|
NM_003978.5(PSTPIP1):c.-123G>A
|
rs771172891
|
0.00005
|
NM_004304.5(ALK):c.3338G>A (p.Arg1113Gln)
|
rs199987354
|
0.00005
|
NM_004360.5(CDH1):c.1019C>T (p.Thr340Met)
|
rs61747631
|
0.00005
|
NM_004360.5(CDH1):c.1988A>G (p.Tyr663Cys)
|
rs372182377
|
0.00005
|
NM_004995.4(MMP14):c.976G>A (p.Val326Met)
|
rs747054970
|
0.00005
|
NM_006017.3(PROM1):c.1152G>C (p.Arg384Ser)
|
rs201748228
|
0.00005
|
NM_006727.5(CDH10):c.1394A>G (p.Asn465Ser)
|
rs200673315
|
0.00005
|
NM_006734.4(HIVEP2):c.5846A>G (p.Asn1949Ser)
|
rs376423805
|
0.00005
|
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp)
|
rs137853007
|
0.00005
|
NM_007294.4(BRCA1):c.1974G>C (p.Met658Ile)
|
rs55678461
|
0.00005
|
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr)
|
rs80357102
|
0.00005
|
NM_007294.4(BRCA1):c.2634A>G (p.Ala878=)
|
rs730881451
|
0.00005
|
NM_007294.4(BRCA1):c.301+55G>A
|
rs868735744
|
0.00005
|
NM_007294.4(BRCA1):c.4046C>T (p.Thr1349Met)
|
rs80357345
|
0.00005
|
NM_007294.4(BRCA1):c.4653T>C (p.Ser1551=)
|
rs587780863
|
0.00005
|
NM_007294.4(BRCA1):c.5117G>C (p.Gly1706Ala)
|
rs80356860
|
0.00005
|
NM_007294.4(BRCA1):c.670+16G>A
|
rs199916228
|
0.00005
|
NM_014314.4(RIGI):c.1166A>G (p.Asn389Ser)
|
rs888856438
|
0.00005
|
NM_015559.3(SETBP1):c.1202G>A (p.Arg401Gln)
|
rs144407969
|
0.00005
|
NM_018117.12(WDR11):c.644T>C (p.Leu215Pro)
|
rs140904601
|
0.00005
|
NM_019066.5(MAGEL2):c.3699_3701dup (p.Asp1234dup)
|
rs779843667
|
0.00005
|
NM_020754.4(ARHGAP31):c.2314G>A (p.Gly772Arg)
|
rs781272160
|
0.00005
|
NM_024675.4(PALB2):c.2442G>A (p.Glu814=)
|
rs140776736
|
0.00005
|
NM_025074.7(FRAS1):c.808C>T (p.Arg270Cys)
|
rs773283272
|
0.00005
|
NM_032043.3(BRIP1):c.2863A>C (p.Asn955His)
|
rs587782244
|
0.00005
|
NM_033056.4(PCDH15):c.5510C>T (p.Ser1837Phe)
|
rs140047846
|
0.00005
|
NM_033305.3(VPS13A):c.7897G>A (p.Glu2633Lys)
|
rs746604299
|
0.00005
|
NM_033400.3(ZFHX2):c.1190A>C (p.Lys397Thr)
|
rs1011438379
|
0.00005
|
NM_052845.4(MMAB):c.665C>T (p.Thr222Met)
|
rs142070439
|
0.00005
|
NM_053274.3(GLMN):c.1204A>G (p.Thr402Ala)
|
rs374766335
|
0.00005
|
NM_138694.4(PKHD1):c.11224G>A (p.Ala3742Thr)
|
rs557211301
|
0.00005
|
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr)
|
rs200511261
|
0.00005
|
NM_144997.7(FLCN):c.1387T>C (p.Tyr463His)
|
rs770077517
|
0.00005
|
NM_170606.3(KMT2C):c.7831C>T (p.Pro2611Ser)
|
rs150673607
|
0.00005
|
NM_173651.4(FSIP2):c.8662C>T (p.Leu2888Phe)
|
rs760801976
|
0.00005
|
NM_178857.6(RP1L1):c.4577C>T (p.Thr1526Met)
|
rs267601688
|
0.00005
|
NM_182919.4(TICAM1):c.566G>C (p.Ser189Thr)
|
rs747441149
|
0.00005
|
NM_194248.3(OTOF):c.3428G>A (p.Arg1143Gln)
|
rs1330253297
|
0.00005
|
NC_000022.11:g.32502021T>C
|
rs1022729592
|
0.00004
|
NM_000038.6(APC):c.1549-13A>T
|
rs587781267
|
0.00004
|
NM_000038.6(APC):c.1762G>A (p.Val588Ile)
|
rs372416031
|
0.00004
|
NM_000038.6(APC):c.317G>A (p.Arg106His)
|
rs201764637
|
0.00004
|
NM_000038.6(APC):c.3628C>T (p.His1210Tyr)
|
rs145181563
|
0.00004
|
NM_000038.6(APC):c.3876G>A (p.Thr1292=)
|
rs377494451
|
0.00004
|
NM_000038.6(APC):c.6117G>T (p.Leu2039Phe)
|
rs372418435
|
0.00004
|
NM_000038.6(APC):c.6135C>T (p.Ser2045=)
|
rs187297940
|
0.00004
|
NM_000038.6(APC):c.6387G>A (p.Ser2129=)
|
rs374310157
|
0.00004
|
NM_000038.6(APC):c.6694C>G (p.His2232Asp)
|
rs730881256
|
0.00004
|
NM_000038.6(APC):c.8325G>A (p.Gly2775=)
|
rs770719841
|
0.00004
|
NM_000051.4(ATM):c.1351C>T (p.Arg451Cys)
|
rs201719927
|
0.00004
|
NM_000051.4(ATM):c.1888G>A (p.Val630Met)
|
rs148191382
|
0.00004
|
NM_000051.4(ATM):c.1953A>G (p.Leu651=)
|
rs730881283
|
0.00004
|
NM_000051.4(ATM):c.202A>G (p.Ile68Val)
|
rs35389822
|
0.00004
|
NM_000051.4(ATM):c.2418G>T (p.Leu806Phe)
|
rs587781296
|
0.00004
|
NM_000051.4(ATM):c.2836A>G (p.Met946Val)
|
rs587781992
|
0.00004
|
NM_000051.4(ATM):c.283C>A (p.Gln95Lys)
|
rs587781545
|
0.00004
|
NM_000051.4(ATM):c.3106T>C (p.Phe1036Leu)
|
rs747079458
|
0.00004
|
NM_000051.4(ATM):c.3378A>G (p.Lys1126=)
|
rs149182949
|
0.00004
|
NM_000051.4(ATM):c.3467C>T (p.Thr1156Met)
|
rs759951393
|
0.00004
|
NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu)
|
rs141087784
|
0.00004
|
NM_000051.4(ATM):c.5278A>G (p.Met1760Val)
|
rs151327241
|
0.00004
|
NM_000051.4(ATM):c.6101G>A (p.Arg2034Gln)
|
rs3218670
|
0.00004
|
NM_000051.4(ATM):c.6114C>T (p.His2038=)
|
rs774993357
|
0.00004
|
NM_000051.4(ATM):c.7592T>C (p.Met2531Thr)
|
rs587781365
|
0.00004
|
NM_000051.4(ATM):c.8391T>C (p.Ser2797=)
|
rs566485657
|
0.00004
|
NM_000051.4(ATM):c.8428A>C (p.Lys2810Gln)
|
rs730881325
|
0.00004
|
NM_000051.4(ATM):c.8558C>T (p.Thr2853Met)
|
rs141534716
|
0.00004
|
NM_000051.4(ATM):c.8968G>A (p.Glu2990Lys)
|
rs1800558
|
0.00004
|
NM_000059.4(BRCA2):c.10222A>T (p.Lys3408Ter)
|
rs80358402
|
0.00004
|
NM_000059.4(BRCA2):c.1762A>G (p.Asn588Asp)
|
rs398122731
|
0.00004
|
NM_000059.4(BRCA2):c.267G>A (p.Pro89=)
|
rs587780648
|
0.00004
|
NM_000059.4(BRCA2):c.280C>T (p.Pro94Ser)
|
rs80358531
|
0.00004
|
NM_000059.4(BRCA2):c.316+13A>G
|
rs773097109
|
0.00004
|
NM_000059.4(BRCA2):c.352C>T (p.Arg118Cys)
|
rs375125172
|
0.00004
|
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter)
|
rs80358721
|
0.00004
|
NM_000059.4(BRCA2):c.5303_5304del (p.Leu1768fs)
|
rs80359505
|
0.00004
|
NM_000059.4(BRCA2):c.5319G>A (p.Glu1773=)
|
rs376257217
|
0.00004
|
NM_000059.4(BRCA2):c.5752C>T (p.His1918Tyr)
|
rs80358803
|
0.00004
|
NM_000059.4(BRCA2):c.5869A>G (p.Ile1957Val)
|
rs80358817
|
0.00004
|
NM_000059.4(BRCA2):c.6058G>A (p.Glu2020Lys)
|
rs80358842
|
0.00004
|
NM_000059.4(BRCA2):c.62A>G (p.Lys21Arg)
|
rs397507367
|
0.00004
|
NM_000059.4(BRCA2):c.7010C>T (p.Thr2337Ile)
|
rs80358927
|
0.00004
|
NM_000059.4(BRCA2):c.7102T>G (p.Leu2368Val)
|
rs397507382
|
0.00004
|
NM_000059.4(BRCA2):c.7522G>A (p.Gly2508Ser)
|
rs80358978
|
0.00004
|
NM_000059.4(BRCA2):c.8420C>T (p.Ser2807Leu)
|
rs55763607
|
0.00004
|
NM_000059.4(BRCA2):c.8723T>G (p.Val2908Gly)
|
rs28897753
|
0.00004
|
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter)
|
rs80359212
|
0.00004
|
NM_000059.4(BRCA2):c.9586A>G (p.Lys3196Glu)
|
rs80359228
|
0.00004
|
NM_000059.4(BRCA2):c.9677A>G (p.Tyr3226Cys)
|
rs80359237
|
0.00004
|
NM_000095.3(COMP):c.968A>G (p.Asn323Ser)
|
rs367812050
|
0.00004
|
NM_000136.3(FANCC):c.1000C>T (p.Arg334Trp)
|
rs140348260
|
0.00004
|
NM_000136.3(FANCC):c.1493C>T (p.Ala498Val)
|
rs730881725
|
0.00004
|
NM_000142.5(FGFR3):c.940G>A (p.Ala314Thr)
|
rs748488719
|
0.00004
|
NM_000158.4(GBE1):c.1121C>T (p.Ser374Leu)
|
rs776192396
|
0.00004
|
NM_000179.3(MSH6):c.107C>T (p.Ala36Val)
|
rs61756469
|
0.00004
|
NM_000179.3(MSH6):c.1364A>C (p.Asn455Thr)
|
rs200938360
|
0.00004
|
NM_000179.3(MSH6):c.1937A>G (p.Lys646Arg)
|
rs201096652
|
0.00004
|
NM_000179.3(MSH6):c.2271C>T (p.Thr757=)
|
rs142172006
|
0.00004
|
NM_000179.3(MSH6):c.2408A>G (p.Asp803Gly)
|
rs63751450
|
0.00004
|
NM_000179.3(MSH6):c.2418C>T (p.Ser806=)
|
rs770992427
|
0.00004
|
NM_000179.3(MSH6):c.3557-17del
|
rs778393939
|
0.00004
|
NM_000179.3(MSH6):c.3557-3A>T
|
rs41295274
|
0.00004
|
NM_000179.3(MSH6):c.3801+5G>A
|
rs201080919
|
0.00004
|
NM_000179.3(MSH6):c.4001+10dup
|
rs730882138
|
0.00004
|
NM_000179.3(MSH6):c.4004A>C (p.Glu1335Ala)
|
rs564434147
|
0.00004
|
NM_000181.4(GUSB):c.1238C>T (p.Ala413Val)
|
rs752523400
|
0.00004
|
NM_000203.5(IDUA):c.238G>A (p.Val80Ile)
|
rs749227148
|
0.00004
|
NM_000228.3(LAMB3):c.2632C>T (p.Arg878Cys)
|
rs199946321
|
0.00004
|
NM_000228.3(LAMB3):c.914C>T (p.Ala305Val)
|
rs756331697
|
0.00004
|
NM_000249.4(MLH1):c.1565G>A (p.Arg522Gln)
|
rs63751630
|
0.00004
|
NM_000249.4(MLH1):c.1628A>G (p.His543Arg)
|
rs730881742
|
0.00004
|
NM_000249.4(MLH1):c.2252A>G (p.Lys751Arg)
|
rs140195825
|
0.00004
|
NM_000249.4(MLH1):c.299G>A (p.Arg100Gln)
|
rs63750266
|
0.00004
|
NM_000249.4(MLH1):c.52C>T (p.Arg18Cys)
|
rs367654552
|
0.00004
|
NM_000249.4(MLH1):c.579A>G (p.Ser193=)
|
rs587781038
|
0.00004
|
NM_000249.4(MLH1):c.794G>A (p.Arg265His)
|
rs63751448
|
0.00004
|
NM_000251.3(MSH2):c.1121A>G (p.Gln374Arg)
|
rs749660228
|
0.00004
|
NM_000251.3(MSH2):c.2516A>G (p.His839Arg)
|
rs63750027
|
0.00004
|
NM_000408.5(GPD2):c.2146G>A (p.Val716Ile)
|
rs747731520
|
0.00004
|
NM_000429.3(MAT1A):c.241C>T (p.Arg81Trp)
|
rs750570720
|
0.00004
|
NM_000455.5(STK11):c.355A>G (p.Asn119Asp)
|
rs545015076
|
0.00004
|
NM_000455.5(STK11):c.374+11C>T
|
rs368923696
|
0.00004
|
NM_000455.5(STK11):c.723T>C (p.Ala241=)
|
rs533550278
|
0.00004
|
NM_000455.5(STK11):c.795G>A (p.Glu265=)
|
rs730881963
|
0.00004
|
NM_000465.4(BARD1):c.1921C>T (p.Arg641Ter)
|
rs587781948
|
0.00004
|
NM_000465.4(BARD1):c.2172G>T (p.Ala724=)
|
rs143331809
|
0.00004
|
NM_000465.4(BARD1):c.2280G>A (p.Ser760=)
|
rs749959440
|
0.00004
|
NM_000465.4(BARD1):c.253G>T (p.Val85Leu)
|
rs370359540
|
0.00004
|
NM_000465.4(BARD1):c.353A>G (p.Asn118Ser)
|
rs142864491
|
0.00004
|
NM_000465.4(BARD1):c.365-7C>T
|
rs745929983
|
0.00004
|
NM_000465.4(BARD1):c.581G>A (p.Arg194Lys)
|
rs181748854
|
0.00004
|
NM_000478.6(ALPL):c.1363G>A (p.Gly455Ser)
|
rs149889416
|
0.00004
|
NM_000521.4(HEXB):c.1510C>T (p.Pro504Ser)
|
rs121907985
|
0.00004
|
NM_000527.5(LDLR):c.232C>T (p.Arg78Cys)
|
rs370860696
|
0.00004
|
NM_000535.7(PMS2):c.1197G>A (p.Lys399=)
|
rs757730609
|
0.00004
|
NM_000535.7(PMS2):c.11C>G (p.Ala4Gly)
|
rs745361721
|
0.00004
|
NM_000535.7(PMS2):c.1211C>G (p.Pro404Arg)
|
rs536111818
|
0.00004
|
NM_000535.7(PMS2):c.2049C>T (p.Asn683=)
|
rs752950007
|
0.00004
|
NM_000535.7(PMS2):c.2334C>T (p.Phe778=)
|
rs768674294
|
0.00004
|
NM_000535.7(PMS2):c.2347G>A (p.Val783Ile)
|
rs553286217
|
0.00004
|
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met)
|
rs576055272
|
0.00004
|
NM_000535.7(PMS2):c.475G>A (p.Val159Met)
|
rs142416537
|
0.00004
|
NM_000535.7(PMS2):c.705+12C>T
|
rs368486366
|
0.00004
|
NM_000535.7(PMS2):c.831G>A (p.Thr277=)
|
rs116481522
|
0.00004
|
NM_000539.3(RHO):c.759G>T (p.Met253Ile)
|
rs756658659
|
0.00004
|
NM_000546.6(TP53):c.1096T>G (p.Ser366Ala)
|
rs17881470
|
0.00004
|
NM_000546.6(TP53):c.1149C>T (p.Leu383=)
|
rs373710656
|
0.00004
|
NM_000771.4(CYP2C9):c.1432T>A (p.Ser478Thr)
|
rs867786171
|
0.00004
|
NM_000875.5(IGF1R):c.1924A>C (p.Ser642Arg)
|
rs749384354
|
0.00004
|
NM_000875.5(IGF1R):c.721G>A (p.Ala241Thr)
|
rs775630539
|
0.00004
|
NM_001003841.3(SLC6A19):c.887+9G>A
|
rs762018842
|
0.00004
|
NM_001003841.3(SLC6A19):c.970G>A (p.Val324Ile)
|
rs183235351
|
0.00004
|
NM_001005337.3(PKP1):c.2051G>A (p.Arg684Gln)
|
rs573352897
|
0.00004
|
NM_001005337.3(PKP1):c.242G>A (p.Gly81Glu)
|
rs769244881
|
0.00004
|
NM_001009944.3(PKD1):c.1021G>A (p.Ala341Thr)
|
rs2855337
|
0.00004
|
NM_001009944.3(PKD1):c.1202-8G>A
|
rs560799680
|
0.00004
|
NM_001009944.3(PKD1):c.2098-3C>T
|
rs1295368570
|
0.00004
|
NM_001009944.3(PKD1):c.2607C>A (p.Arg869=)
|
rs537405706
|
0.00004
|
NM_001009944.3(PKD1):c.3714C>T (p.Gly1238=)
|
rs769745056
|
0.00004
|
NM_001009944.3(PKD1):c.4147G>A (p.Val1383Ile)
|
rs201627517
|
0.00004
|
NM_001009944.3(PKD1):c.4632G>A (p.Val1544=)
|
rs142035983
|
0.00004
|
NM_001009944.3(PKD1):c.5589C>T (p.Ser1863=)
|
rs775686229
|
0.00004
|
NM_001009944.3(PKD1):c.5985C>T (p.Arg1995=)
|
rs556708086
|
0.00004
|
NM_001009944.3(PKD1):c.6091G>A (p.Val2031Met)
|
rs765389584
|
0.00004
|
NM_001009944.3(PKD1):c.8002C>G (p.Leu2668Val)
|
rs761726794
|
0.00004
|
NM_001009944.3(PKD1):c.9168C>T (p.Phe3056=)
|
rs199787425
|
0.00004
|
NM_001009944.3(PKD1):c.9573C>G (p.Leu3191=)
|
rs535771951
|
0.00004
|
NM_001009944.3(PKD1):c.957G>A (p.Pro319=)
|
rs62038821
|
0.00004
|
NM_001032386.2(SUOX):c.1012C>T (p.Arg338Trp)
|
rs766441734
|
0.00004
|
NM_001039141.3(TRIOBP):c.7010G>A (p.Arg2337Gln)
|
rs200850285
|
0.00004
|
NM_001042492.3(NF1):c.3484A>G (p.Met1162Val)
|
rs773968270
|
0.00004
|
NM_001048174.2(MUTYH):c.1309C>G (p.Pro437Ala)
|
rs375597447
|
0.00004
|
NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp)
|
rs765123255
|
0.00004
|
NM_001048174.2(MUTYH):c.305-1G>C
|
rs372267274
|
0.00004
|
NM_001048174.2(MUTYH):c.87C>T (p.Asn29=)
|
rs141679570
|
0.00004
|
NM_001048174.2(MUTYH):c.928C>T (p.Gln310Ter)
|
rs587780082
|
0.00004
|
NM_001067.4(TOP2A):c.2662A>G (p.Met888Val)
|
rs750435681
|
0.00004
|
NM_001080.3(ALDH5A1):c.589G>A (p.Val197Met)
|
rs768219929
|
0.00004
|
NM_001085487.3(MYSM1):c.2296C>T (p.Arg766Cys)
|
rs141454457
|
0.00004
|
NM_001098816.3(TENM4):c.6068C>T (p.Thr2023Met)
|
rs370572793
|
0.00004
|
NM_001103146.3(GIGYF2):c.1388G>A (p.Arg463Gln)
|
rs765300379
|
0.00004
|
NM_001113491.2(SEPTIN9):c.146C>A (p.Thr49Asn)
|
rs549141429
|
0.00004
|
NM_001127255.2(NLRP7):c.1241C>T (p.Thr414Met)
|
rs757670306
|
0.00004
|
NM_001130823.3(DNMT1):c.1436A>C (p.Glu479Ala)
|
rs374027926
|
0.00004
|
NM_001164508.2(NEB):c.5429C>T (p.Ala1810Val)
|
rs752744680
|
0.00004
|
NM_001165963.4(SCN1A):c.2926A>C (p.Met976Leu)
|
rs773681556
|
0.00004
|
NM_001166108.2(PALLD):c.1965-12565G>A
|
rs368350042
|
0.00004
|
NM_001170629.2(CHD8):c.5608G>A (p.Asp1870Asn)
|
rs376095447
|
0.00004
|
NM_001171.6(ABCC6):c.1249G>A (p.Val417Met)
|
rs768869262
|
0.00004
|
NM_001242882.2(NAXD):c.344A>G (p.Asn115Ser)
|
rs55839400
|
0.00004
|
NM_001256071.3(RNF213):c.13087C>T (p.Pro4363Ser)
|
rs149230960
|
0.00004
|
NM_001286577.2(C2CD3):c.8A>C (p.Gln3Pro)
|
rs370689810
|
0.00004
|
NM_001297.5(CNGB1):c.3560G>A (p.Arg1187Gln)
|
rs543712958
|
0.00004
|
NM_001318852.2(MAPK8IP3):c.1383C>T (p.Gly461=)
|
rs754927638
|
0.00004
|
NM_001326411.2(PISD):c.194G>A (p.Arg65His)
|
rs373015840
|
0.00004
|
NM_001330311.2(DVL1):c.1819A>C (p.Thr607Pro)
|
rs769935706
|
0.00004
|
NM_001369.3(DNAH5):c.6551T>C (p.Val2184Ala)
|
rs200805455
|
0.00004
|
NM_001370466.1(NOD2):c.2284C>T (p.Leu762Phe)
|
rs773758818
|
0.00004
|
NM_001372.4(DNAH9):c.5195G>A (p.Gly1732Asp)
|
rs202049568
|
0.00004
|
NM_001374736.1(DST):c.23228G>A (p.Arg7743Gln)
|
rs762220017
|
0.00004
|
NM_001378030.1(CCDC78):c.862C>T (p.Arg288Cys)
|
rs764179609
|
0.00004
|
NM_001379081.2(FREM1):c.2872G>T (p.Ala958Ser)
|
rs773785545
|
0.00004
|
NM_001384140.1(PCDH15):c.2214A>C (p.Gln738His)
|
rs746610406
|
0.00004
|
NM_001384474.1(LOXHD1):c.6097A>G (p.Asn2033Asp)
|
rs199838861
|
0.00004
|
NM_001388419.1(KALRN):c.5149G>A (p.Val1717Met)
|
rs201338676
|
0.00004
|
NM_001394783.1(CCR5):c.492C>G (p.Ile164Met)
|
rs1800942
|
0.00004
|
NM_001430.5(EPAS1):c.2518A>G (p.Thr840Ala)
|
rs371184501
|
0.00004
|
NM_001447.3(FAT2):c.12798_12799del (p.Cys4267fs)
|
rs750656516
|
0.00004
|
NM_001457.4(FLNB):c.3767G>A (p.Arg1256Gln)
|
rs148506076
|
0.00004
|
NM_002335.4(LRP5):c.2015C>T (p.Thr672Met)
|
rs575865236
|
0.00004
|
NM_002458.3(MUC5B):c.10059G>A (p.Pro3353=)
|
rs555601780
|
0.00004
|
NM_002458.3(MUC5B):c.14990C>T (p.Pro4997Leu)
|
rs544802823
|
0.00004
|
NM_002458.3(MUC5B):c.1994C>T (p.Ala665Val)
|
rs760039942
|
0.00004
|
NM_002471.4(MYH6):c.4082G>A (p.Arg1361His)
|
rs533942127
|
0.00004
|
NM_002485.5(NBN):c.278C>T (p.Ser93Leu)
|
rs12721593
|
0.00004
|
NM_002485.5(NBN):c.633T>A (p.Asp211Glu)
|
rs377700348
|
0.00004
|
NM_002691.4(POLD1):c.1383+8C>T
|
rs374719944
|
0.00004
|
NM_002742.3(PRKD1):c.671C>G (p.Thr224Arg)
|
rs571479464
|
0.00004
|
NM_002834.5(PTPN11):c.173A>G (p.Asn58Ser)
|
rs751437780
|
0.00004
|
NM_002878.4(RAD51D):c.145-13G>T
|
rs760867838
|
0.00004
|
NM_002878.4(RAD51D):c.796C>T (p.Arg266Cys)
|
rs587781813
|
0.00004
|
NM_003212.4(CRIPTO):c.360T>G (p.His120Gln)
|
rs757196291
|
0.00004
|
NM_003560.4(PLA2G6):c.395G>A (p.Arg132His)
|
rs763734863
|
0.00004
|
NM_003560.4(PLA2G6):c.533A>G (p.Gln178Arg)
|
rs775728294
|
0.00004
|
NM_003613.4(CILP):c.2759A>G (p.Asp920Gly)
|
rs771555017
|
0.00004
|
NM_003722.5(TP63):c.688G>C (p.Val230Leu)
|
rs201466089
|
0.00004
|
NM_003737.4(DCHS1):c.3769A>G (p.Thr1257Ala)
|
rs143368111
|
0.00004
|
NM_003995.4(NPR2):c.788G>A (p.Arg263His)
|
rs139036657
|
0.00004
|
NM_004171.4(SLC1A2):c.1622C>G (p.Ala541Gly)
|
rs148795275
|
0.00004
|
NM_004360.5(CDH1):c.213C>T (p.Leu71=)
|
rs376667778
|
0.00004
|
NM_004360.5(CDH1):c.2165-15C>A
|
rs552874184
|
0.00004
|
NM_004360.5(CDH1):c.780C>T (p.Pro260=)
|
rs765090311
|
0.00004
|
NM_004366.6(CLCN2):c.1958G>C (p.Arg653Thr)
|
rs568335048
|
0.00004
|
NM_004614.5(TK2):c.103C>T (p.Gln35Ter)
|
rs886041321
|
0.00004
|
NM_004974.4(KCNA2):c.972C>T (p.Ser324=)
|
rs765820644
|
0.00004
|
NM_005085.4(NUP214):c.1435C>T (p.Pro479Ser)
|
rs148833862
|
0.00004
|
NM_005245.4(FAT1):c.5576C>G (p.Ala1859Gly)
|
rs1457917178
|
0.00004
|
NM_005245.4(FAT1):c.6145G>A (p.Val2049Met)
|
rs771744168
|
0.00004
|
NM_005529.7(HSPG2):c.8711C>T (p.Ala2904Val)
|
rs372570791
|
0.00004
|
NM_005751.5(AKAP9):c.2575G>A (p.Val859Ile)
|
rs751606673
|
0.00004
|
NM_005902.4(SMAD3):c.879C>T (p.Gly293=)
|
rs769683236
|
0.00004
|
NM_006231.4(POLE):c.155G>A (p.Arg52Gln)
|
rs372459649
|
0.00004
|
NM_006231.4(POLE):c.2053C>T (p.Arg685Trp)
|
rs116326665
|
0.00004
|
NM_006231.4(POLE):c.6539C>T (p.Ala2180Val)
|
rs552452448
|
0.00004
|
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp)
|
rs121908705
|
0.00004
|
NM_007194.4(CHEK2):c.1423T>A (p.Phe475Ile)
|
rs370968992
|
0.00004
|
NM_007202.4(AKAP10):c.113C>T (p.Thr38Ile)
|
rs370198483
|
0.00004
|
NM_007294.4(BRCA1):c.-19-3A>G
|
rs273898669
|
0.00004
|
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly)
|
rs28897672
|
0.00004
|
NM_007294.4(BRCA1):c.2286A>T (p.Arg762Ser)
|
rs273898682
|
0.00004
|
NM_007294.4(BRCA1):c.2351C>T (p.Ser784Leu)
|
rs55914168
|
0.00004
|
NM_007294.4(BRCA1):c.2669G>T (p.Gly890Val)
|
rs80356874
|
0.00004
|
NM_007294.4(BRCA1):c.2979A>G (p.Lys993=)
|
rs772854836
|
0.00004
|
NM_007294.4(BRCA1):c.3454G>A (p.Asp1152Asn)
|
rs80357175
|
0.00004
|
NM_007294.4(BRCA1):c.3758C>G (p.Ser1253Cys)
|
rs397509100
|
0.00004
|
NM_007294.4(BRCA1):c.425C>A (p.Pro142His)
|
rs55971303
|
0.00004
|
NM_007294.4(BRCA1):c.4357+17A>G
|
rs80358180
|
0.00004
|
NM_007294.4(BRCA1):c.446A>C (p.Glu149Ala)
|
rs397507233
|
0.00004
|
NM_007294.4(BRCA1):c.4484+61G>T
|
rs80358185
|
0.00004
|
NM_007294.4(BRCA1):c.4675+53C>A
|
rs869312522
|
0.00004
|
NM_007294.4(BRCA1):c.4676-8C>G
|
rs80358021
|
0.00004
|
NM_007294.4(BRCA1):c.5252G>A (p.Arg1751Gln)
|
rs80357442
|
0.00004
|
NM_007294.4(BRCA1):c.570C>T (p.Thr190=)
|
rs201536070
|
0.00004
|
NM_007294.4(BRCA1):c.75C>T (p.Pro25=)
|
rs80356839
|
0.00004
|
NM_007294.4(BRCA1):c.81-11del
|
rs273902788
|
0.00004
|
NM_007332.3(TRPA1):c.1952G>T (p.Cys651Phe)
|
rs767859469
|
0.00004
|
NM_013447.4(ADGRE2):c.238G>A (p.Gly80Arg)
|
rs370033223
|
0.00004
|
NM_014283.5(SUCO):c.3426G>A (p.Thr1142=)
|
rs756766487
|
0.00004
|
NM_014915.3(ANKRD26):c.98G>T (p.Gly33Val)
|
rs372939800
|
0.00004
|
NM_015046.7(SETX):c.6122T>C (p.Ile2041Thr)
|
rs140676924
|
0.00004
|
NM_015937.6(PIGT):c.1082A>G (p.Tyr361Cys)
|
rs781604094
|
0.00004
|
NM_016362.5(GHRL):c.176C>T (p.Pro59Leu)
|
rs749962204
|
0.00004
|
NM_016511.4(CLEC1A):c.155T>C (p.Leu52Pro)
|
rs756010489
|
0.00004
|
NM_017617.5(NOTCH1):c.2108G>A (p.Arg703His)
|
rs561126575
|
0.00004
|
NM_017672.6(TRPM7):c.2924G>A (p.Arg975His)
|
rs748108650
|
0.00004
|
NM_017780.4(CHD7):c.6335C>T (p.Thr2112Met)
|
rs758409717
|
0.00004
|
NM_017950.4(CCDC40):c.940-7G>A
|
rs727504972
|
0.00004
|
NM_018230.3(NUP133):c.3065C>T (p.Ala1022Val)
|
rs751402996
|
0.00004
|
NM_020361.5(CPA6):c.275G>A (p.Arg92Gln)
|
rs147475942
|
0.00004
|
NM_020631.6(PLEKHG5):c.2485G>T (p.Asp829Tyr)
|
rs200162521
|
0.00004
|
NM_021098.3(CACNA1H):c.4651G>A (p.Val1551Met)
|
rs369045626
|
0.00004
|
NM_021098.3(CACNA1H):c.5083G>A (p.Gly1695Ser)
|
rs946594196
|
0.00004
|
NM_022114.4(PRDM16):c.171C>T (p.Ser57=)
|
rs369648897
|
0.00004
|
NM_024493.4(ZKSCAN3):c.1038G>T (p.Glu346Asp)
|
rs376311714
|
0.00004
|
NM_024649.5(BBS1):c.840G>C (p.Lys280Asn)
|
rs780169168
|
0.00004
|
NM_024675.4(PALB2):c.2067G>A (p.Ser689=)
|
rs371149159
|
0.00004
|
NM_024675.4(PALB2):c.2289G>C (p.Leu763Phe)
|
rs373478248
|
0.00004
|
NM_024675.4(PALB2):c.2674G>A (p.Glu892Lys)
|
rs45476495
|
0.00004
|
NM_024757.5(EHMT1):c.499G>A (p.Ala167Thr)
|
rs141282876
|
0.00004
|
NM_024809.5(TCTN2):c.1544C>T (p.Ala515Val)
|
rs748105865
|
0.00004
|
NM_025074.7(FRAS1):c.2054T>G (p.Leu685Arg)
|
rs767882606
|
0.00004
|
NM_025074.7(FRAS1):c.517C>T (p.Arg173Trp)
|
rs767674052
|
0.00004
|
NM_025074.7(FRAS1):c.8342G>A (p.Arg2781His)
|
rs373377563
|
0.00004
|
NM_025215.6(PUS1):c.643C>T (p.Arg215Trp)
|
rs776342428
|
0.00004
|
NM_030662.4(MAP2K2):c.938G>A (p.Arg313Gln)
|
rs151133017
|
0.00004
|
NM_032043.3(BRIP1):c.415T>G (p.Ser139Ala)
|
rs202072866
|
0.00004
|
NM_032043.3(BRIP1):c.69G>A (p.Pro23=)
|
rs45458996
|
0.00004
|
NM_053025.4(MYLK):c.226G>A (p.Gly76Arg)
|
rs368413008
|
0.00004
|
NM_058216.3(RAD51C):c.1062A>G (p.Ala354=)
|
rs201000407
|
0.00004
|
NM_130837.3(OPA1):c.800A>G (p.Lys267Arg)
|
rs1329385935
|
0.00004
|
NM_138694.4(PKHD1):c.8286C>T (p.Asp2762=)
|
rs749740610
|
0.00004
|
NM_138959.3(VANGL1):c.635G>A (p.Arg212Gln)
|
rs1009946726
|
0.00004
|
NM_144573.4(NEXN):c.1174C>T (p.Arg392Ter)
|
rs750076188
|
0.00004
|
NM_152618.3(BBS12):c.1A>C (p.Met1Leu)
|
rs750366365
|
0.00004
|
NM_153704.6(TMEM67):c.31A>G (p.Met11Val)
|
rs758761945
|
0.00004
|
NM_173076.3(ABCA12):c.4873A>G (p.Thr1625Ala)
|
rs553840038
|
0.00004
|
NM_173651.4(FSIP2):c.18188A>C (p.Lys6063Thr)
|
rs779471913
|
0.00004
|
NM_198129.4(LAMA3):c.2332G>A (p.Gly778Arg)
|
rs367800328
|
0.00004
|
NM_198129.4(LAMA3):c.4297A>G (p.Thr1433Ala)
|
rs377141415
|
0.00004
|
NM_201384.3(PLEC):c.5021G>A (p.Arg1674Gln)
|
rs782062918
|
0.00004
|
NM_201596.3(CACNB2):c.427G>A (p.Glu143Lys)
|
rs368719191
|
0.00004
|
NM_206933.4(USH2A):c.5698T>G (p.Cys1900Gly)
|
rs201026468
|
0.00004
|
NM_207361.6(FREM2):c.8509C>T (p.Pro2837Ser)
|
rs766715445
|
0.00004
|
NC_000004.12:g.110016321G>T
|
rs755867404
|
0.00003
|
NC_000004.12:g.38772068C>T
|
rs899423584
|
0.00003
|
NM_000038.6(APC):c.1557A>G (p.Leu519=)
|
rs765537673
|
0.00003
|
NM_000038.6(APC):c.1904G>C (p.Gly635Ala)
|
rs730881239
|
0.00003
|
NM_000038.6(APC):c.3205A>G (p.Arg1069Gly)
|
rs375408871
|
0.00003
|
NM_000038.6(APC):c.3529A>G (p.Ile1177Val)
|
rs369834416
|
0.00003
|
NM_000038.6(APC):c.5181C>T (p.Cys1727=)
|
rs1554086499
|
0.00003
|
NM_000038.6(APC):c.5635G>T (p.Ala1879Ser)
|
rs587779799
|
0.00003
|
NM_000038.6(APC):c.5912C>G (p.Ser1971Cys)
|
rs754691867
|
0.00003
|
NM_000038.6(APC):c.6945A>G (p.Gln2315=)
|
rs786201348
|
0.00003
|
NM_000038.6(APC):c.70C>T (p.Arg24Ter)
|
rs145945630
|
0.00003
|
NM_000051.4(ATM):c.1464G>T (p.Trp488Cys)
|
rs377597949
|
0.00003
|
NM_000051.4(ATM):c.2192A>T (p.Tyr731Phe)
|
rs730881345
|
0.00003
|
NM_000051.4(ATM):c.2222A>G (p.Tyr741Cys)
|
rs878853492
|
0.00003
|
NM_000051.4(ATM):c.2250G>A (p.Lys750=)
|
rs1137887
|
0.00003
|
NM_000051.4(ATM):c.2396C>T (p.Ala799Val)
|
rs199954262
|
0.00003
|
NM_000051.4(ATM):c.2449G>C (p.Asp817His)
|
rs587778067
|
0.00003
|
NM_000051.4(ATM):c.3242A>G (p.Asn1081Ser)
|
rs368111672
|
0.00003
|
NM_000051.4(ATM):c.3295G>A (p.Asp1099Asn)
|
rs372966951
|
0.00003
|
NM_000051.4(ATM):c.3300G>A (p.Thr1100=)
|
rs587780621
|
0.00003
|
NM_000051.4(ATM):c.5189G>A (p.Arg1730Gln)
|
rs373789346
|
0.00003
|
NM_000051.4(ATM):c.6234C>T (p.Ser2078=)
|
rs569483748
|
0.00003
|
NM_000051.4(ATM):c.6604T>G (p.Tyr2202Asp)
|
rs730881311
|
0.00003
|
NM_000051.4(ATM):c.6888A>T (p.Ala2296=)
|
rs200735689
|
0.00003
|
NM_000051.4(ATM):c.7191A>G (p.Gln2397=)
|
rs768906734
|
0.00003
|
NM_000051.4(ATM):c.9006C>T (p.Phe3002=)
|
rs540172506
|
0.00003
|
NM_000059.4(BRCA2):c.11G>C (p.Gly4Ala)
|
rs587782137
|
0.00003
|
NM_000059.4(BRCA2):c.1216G>A (p.Ala406Thr)
|
rs751535164
|
0.00003
|
NM_000059.4(BRCA2):c.1219C>G (p.Gln407Glu)
|
rs781079248
|
0.00003
|
NM_000059.4(BRCA2):c.1564G>C (p.Gly522Arg)
|
rs80358442
|
0.00003
|
NM_000059.4(BRCA2):c.1744A>C (p.Thr582Pro)
|
rs80358457
|
0.00003
|
NM_000059.4(BRCA2):c.1838T>G (p.Leu613Arg)
|
rs587780646
|
0.00003
|
NM_000059.4(BRCA2):c.1917G>A (p.Leu639=)
|
rs779226644
|
0.00003
|
NM_000059.4(BRCA2):c.235A>G (p.Ile79Val)
|
rs80358502
|
0.00003
|
NM_000059.4(BRCA2):c.323A>G (p.Asn108Ser)
|
rs80358568
|
0.00003
|
NM_000059.4(BRCA2):c.3462C>T (p.Thr1154=)
|
rs4986856
|
0.00003
|
NM_000059.4(BRCA2):c.3581G>A (p.Gly1194Asp)
|
rs28897721
|
0.00003
|
NM_000059.4(BRCA2):c.3680_3681del (p.Leu1227fs)
|
rs80359395
|
0.00003
|
NM_000059.4(BRCA2):c.3682A>G (p.Asn1228Asp)
|
rs28897722
|
0.00003
|
NM_000059.4(BRCA2):c.3910A>G (p.Thr1304Ala)
|
rs28897723
|
0.00003
|
NM_000059.4(BRCA2):c.426-22G>T
|
rs368499005
|
0.00003
|
NM_000059.4(BRCA2):c.4269T>C (p.Thr1423=)
|
rs786201377
|
0.00003
|
NM_000059.4(BRCA2):c.4670C>G (p.Thr1557Ser)
|
rs80358698
|
0.00003
|
NM_000059.4(BRCA2):c.5495C>A (p.Ser1832Tyr)
|
rs138489917
|
0.00003
|
NM_000059.4(BRCA2):c.5634C>G (p.Asn1878Lys)
|
rs80358784
|
0.00003
|
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs)
|
rs11571658
|
0.00003
|
NM_000059.4(BRCA2):c.627C>T (p.Leu209=)
|
rs28897704
|
0.00003
|
NM_000059.4(BRCA2):c.6293C>T (p.Ser2098Phe)
|
rs80358867
|
0.00003
|
NM_000059.4(BRCA2):c.6935A>T (p.Asp2312Val)
|
rs80358916
|
0.00003
|
NM_000059.4(BRCA2):c.6937+49A>G
|
rs745309949
|
0.00003
|
NM_000059.4(BRCA2):c.7301A>C (p.Lys2434Thr)
|
rs80358954
|
0.00003
|
NM_000059.4(BRCA2):c.7436-14T>G
|
rs81002814
|
0.00003
|
NM_000059.4(BRCA2):c.8010G>A (p.Ser2670=)
|
rs146430937
|
0.00003
|
NM_000059.4(BRCA2):c.8421G>A (p.Ser2807=)
|
rs371278843
|
0.00003
|
NM_000059.4(BRCA2):c.8917C>T (p.Arg2973Cys)
|
rs45469092
|
0.00003
|
NM_000059.4(BRCA2):c.9235del (p.Val3079fs)
|
rs397507422
|
0.00003
|
NM_000059.4(BRCA2):c.9253A>C (p.Thr3085Pro)
|
rs397507423
|
0.00003
|
NM_000059.4(BRCA2):c.9256+28T>A
|
rs779846458
|
0.00003
|
NM_000112.4(SLC26A2):c.172C>T (p.Arg58Cys)
|
rs369318758
|
0.00003
|
NM_000123.4(ERCC5):c.1096C>T (p.Arg366Ter)
|
rs966111552
|
0.00003
|
NM_000152.5(GAA):c.546G>A (p.Thr182=)
|
rs143523371
|
0.00003
|
NM_000179.3(MSH6):c.-2G>T
|
rs374748889
|
0.00003
|
NM_000179.3(MSH6):c.-6G>C
|
rs730881822
|
0.00003
|
NM_000179.3(MSH6):c.-8C>T
|
rs565211544
|
0.00003
|
NM_000179.3(MSH6):c.1822A>G (p.Ile608Val)
|
rs201613780
|
0.00003
|
NM_000179.3(MSH6):c.240A>G (p.Val80=)
|
rs864622281
|
0.00003
|
NM_000179.3(MSH6):c.3026A>T (p.Lys1009Ile)
|
rs587781593
|
0.00003
|
NM_000179.3(MSH6):c.3173-10C>T
|
rs587780559
|
0.00003
|
NM_000179.3(MSH6):c.3426G>A (p.Thr1142=)
|
rs747771350
|
0.00003
|
NM_000199.5(SGSH):c.950-65C>T
|
rs537972451
|
0.00003
|
NM_000217.3(KCNA1):c.53A>C (p.His18Pro)
|
rs367921276
|
0.00003
|
NM_000239.3(LYZ):c.272C>G (p.Ala91Gly)
|
rs776898103
|
0.00003
|
NM_000249.4(MLH1):c.116+5G>A
|
rs267607710
|
0.00003
|
NM_000249.4(MLH1):c.1730C>T (p.Ser577Leu)
|
rs56185292
|
0.00003
|
NM_000251.3(MSH2):c.1144C>T (p.Arg382Cys)
|
rs752373431
|
0.00003
|
NM_000251.3(MSH2):c.14C>A (p.Pro5Gln)
|
rs56170584
|
0.00003
|
NM_000251.3(MSH2):c.1847C>G (p.Pro616Arg)
|
rs587779965
|
0.00003
|
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro)
|
rs63750875
|
0.00003
|
NM_000251.3(MSH2):c.211+8C>T
|
rs267607916
|
0.00003
|
NM_000251.3(MSH2):c.2120G>A (p.Cys707Tyr)
|
rs373226409
|
0.00003
|
NM_000251.3(MSH2):c.2205C>T (p.Ile735=)
|
rs533553381
|
0.00003
|
NM_000251.3(MSH2):c.2517T>A (p.His839Gln)
|
rs267608016
|
0.00003
|
NM_000251.3(MSH2):c.2558A>C (p.Glu853Ala)
|
rs63750797
|
0.00003
|
NM_000251.3(MSH2):c.2801C>A (p.Thr934Lys)
|
rs587779969
|
0.00003
|
NM_000251.3(MSH2):c.399C>T (p.Asp133=)
|
rs61756462
|
0.00003
|
NM_000251.3(MSH2):c.409G>C (p.Gly137Arg)
|
rs587781795
|
0.00003
|
NM_000251.3(MSH2):c.817G>A (p.Val273Ile)
|
rs530814648
|
0.00003
|
NM_000251.3(MSH2):c.835C>G (p.Leu279Val)
|
rs375351205
|
0.00003
|
NM_000312.4(PROC):c.386G>A (p.Arg129His)
|
rs746190838
|
0.00003
|
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln)
|
rs375709098
|
0.00003
|
NM_000342.4(SLC4A1):c.538C>T (p.Arg180Cys)
|
rs749020872
|
0.00003
|
NM_000349.3(STAR):c.562C>T (p.Arg188Cys)
|
rs104894090
|
0.00003
|
NM_000384.3(APOB):c.571A>G (p.Thr191Ala)
|
rs1318040190
|
0.00003
|
NM_000419.5(ITGA2B):c.2780C>T (p.Ala927Val)
|
rs1471946322
|
0.00003
|
NM_000455.5(STK11):c.1035C>T (p.His345=)
|
rs751619208
|
0.00003
|
NM_000455.5(STK11):c.464+10C>T
|
rs587782445
|
0.00003
|
NM_000455.5(STK11):c.615G>A (p.Ala205=)
|
rs532889728
|
0.00003
|
NM_000465.4(BARD1):c.1052C>T (p.Thr351Met)
|
rs767208122
|
0.00003
|
NM_000465.4(BARD1):c.1148T>A (p.Met383Lys)
|
rs763596413
|
0.00003
|
NM_000465.4(BARD1):c.2171C>T (p.Ala724Val)
|
rs587782662
|
0.00003
|
NM_000465.4(BARD1):c.266C>T (p.Pro89Leu)
|
rs780241203
|
0.00003
|
NM_000465.4(BARD1):c.568G>A (p.Asp190Asn)
|
rs369561166
|
0.00003
|
NM_000478.6(ALPL):c.1562G>A (p.Ser521Asn)
|
rs368326384
|
0.00003
|
NM_000535.7(PMS2):c.2288A>G (p.Glu763Gly)
|
rs587780052
|
0.00003
|
NM_000535.7(PMS2):c.2521del (p.Trp841fs)
|
rs886039646
|
0.00003
|
NM_000535.7(PMS2):c.924G>C (p.Glu308Asp)
|
rs114185660
|
0.00003
|
NM_000540.3(RYR1):c.9899C>T (p.Ala3300Val)
|
rs749718772
|
0.00003
|
NM_000546.6(TP53):c.329G>A (p.Arg110His)
|
rs11540654
|
0.00003
|
NM_000546.6(TP53):c.459C>T (p.Pro153=)
|
rs72661116
|
0.00003
|
NM_000546.6(TP53):c.903A>G (p.Pro301=)
|
rs72661120
|
0.00003
|
NM_000718.4(CACNA1B):c.6314G>A (p.Arg2105Gln)
|
rs1013828895
|
0.00003
|
NM_000755.5(CRAT):c.1034C>T (p.Ala345Val)
|
rs372158097
|
0.00003
|
NM_001001433.3(STX16):c.661G>A (p.Asp221Asn)
|
rs781763936
|
0.00003
|
NM_001009944.3(PKD1):c.11347G>A (p.Val3783Ile)
|
rs200120839
|
0.00003
|
NM_001009944.3(PKD1):c.2396G>A (p.Arg799Gln)
|
rs766489466
|
0.00003
|
NM_001009944.3(PKD1):c.3295+12G>C
|
rs1397385522
|
0.00003
|
NM_001009944.3(PKD1):c.3334G>A (p.Glu1112Lys)
|
rs770755888
|
0.00003
|
NM_001009944.3(PKD1):c.3605C>T (p.Ala1202Val)
|
rs767834829
|
0.00003
|
NM_001009944.3(PKD1):c.5994C>T (p.Arg1998=)
|
rs766375023
|
0.00003
|
NM_001009944.3(PKD1):c.6048C>G (p.Asp2016Glu)
|
rs767363184
|
0.00003
|
NM_001009944.3(PKD1):c.6440G>A (p.Arg2147Gln)
|
rs771035065
|
0.00003
|
NM_001009944.3(PKD1):c.7818G>C (p.Gln2606His)
|
rs753798096
|
0.00003
|
NM_001009944.3(PKD1):c.9398-8C>T
|
rs781378410
|
0.00003
|
NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu)
|
rs529008617
|
0.00003
|
NM_001048174.2(MUTYH):c.900C>T (p.Asp300=)
|
rs587780752
|
0.00003
|
NM_001127453.2(GSDME):c.611A>T (p.Asp204Val)
|
rs376564087
|
0.00003
|
NM_001142285.2(RPS24):c.526G>A (p.Val176Met)
|
rs558584969
|
0.00003
|
NM_001145026.2(PTPRQ):c.156T>G (p.Asn52Lys)
|
rs1171640162
|
0.00003
|
NM_001145809.2(MYH14):c.4393C>T (p.Arg1465Cys)
|
rs727505272
|
0.00003
|
NM_001164508.2(NEB):c.24299C>T (p.Ser8100Leu)
|
rs759261311
|
0.00003
|
NM_001164688.2(RD3):c.527A>G (p.Asp176Gly)
|
rs775663367
|
0.00003
|
NM_001166108.2(PALLD):c.556G>A (p.Ala186Thr)
|
rs139434937
|
0.00003
|
NM_001172509.2(SATB2):c.1236A>G (p.Leu412=)
|
rs767544833
|
0.00003
|
NM_001199799.2(ILDR1):c.170T>A (p.Val57Glu)
|
rs375914346
|
0.00003
|
NM_001256071.3(RNF213):c.6713G>T (p.Ser2238Ile)
|
rs567396131
|
0.00003
|
NM_001256071.3(RNF213):c.6719T>C (p.Ile2240Thr)
|
rs375652015
|
0.00003
|
NM_001267550.2(TTN):c.10087C>T (p.Arg3363Cys)
|
rs764030230
|
0.00003
|
NM_001267550.2(TTN):c.15659A>G (p.Asn5220Ser)
|
rs565670799
|
0.00003
|
NM_001267550.2(TTN):c.41406C>T (p.Cys13802=)
|
rs749356221
|
0.00003
|
NM_001267550.2(TTN):c.92750T>C (p.Val30917Ala)
|
rs748545482
|
0.00003
|
NM_001267550.2(TTN):c.9520G>A (p.Asp3174Asn)
|
rs984157404
|
0.00003
|
NM_001273.5(CHD4):c.371A>G (p.Lys124Arg)
|
rs371268726
|
0.00003
|
NM_001365276.2(TNXB):c.1854C>G (p.Ile618Met)
|
rs370432702
|
0.00003
|
NM_001366385.1(CARD14):c.80G>A (p.Arg27His)
|
rs963268943
|
0.00003
|
NM_001369.3(DNAH5):c.4072G>A (p.Gly1358Ser)
|
rs752638332
|
0.00003
|
NM_001369369.1(FOXN1):c.1232G>A (p.Arg411Gln)
|
rs373908977
|
0.00003
|
NM_001370658.1(BTD):c.377C>G (p.Pro126Arg)
|
rs371116229
|
0.00003
|
NM_001372.4(DNAH9):c.6518G>A (p.Arg2173Gln)
|
rs372109014
|
0.00003
|
NM_001376.5(DYNC1H1):c.1861G>A (p.Asp621Asn)
|
rs755333803
|
0.00003
|
NM_001377.3(DYNC2H1):c.11013A>C (p.Leu3671Phe)
|
rs768893643
|
0.00003
|
NM_001378418.1(TCF20):c.2825T>A (p.Phe942Tyr)
|
rs377143209
|
0.00003
|
NM_001379286.1(ZNF423):c.3191A>G (p.Asn1064Ser)
|
rs368041529
|
0.00003
|
NM_001386795.1(DTNA):c.1838C>T (p.Pro613Leu)
|
rs145425478
|
0.00003
|
NM_001394062.1(MACF1):c.21575G>A (p.Arg7192Gln)
|
rs752117651
|
0.00003
|
NM_001447.3(FAT2):c.12763C>T (p.Arg4255Trp)
|
rs765038227
|
0.00003
|
NM_001447.3(FAT2):c.4684G>A (p.Ala1562Thr)
|
rs374714763
|
0.00003
|
NM_001458.5(FLNC):c.5377G>A (p.Val1793Met)
|
rs587780337
|
0.00003
|
NM_001999.4(FBN2):c.93G>T (p.Gln31His)
|
rs371491169
|
0.00003
|
NM_002435.3(MPI):c.144+12G>T
|
rs369867765
|
0.00003
|
NM_002458.3(MUC5B):c.4427C>T (p.Ser1476Leu)
|
rs374072351
|
0.00003
|
NM_002472.3(MYH8):c.2791G>A (p.Glu931Lys)
|
rs142137577
|
0.00003
|
NM_002485.5(NBN):c.139G>A (p.Val47Met)
|
rs876658446
|
0.00003
|
NM_002485.5(NBN):c.702+9G>A
|
rs748373099
|
0.00003
|
NM_002485.5(NBN):c.896+13T>G
|
rs376695206
|
0.00003
|
NM_002615.7(SERPINF1):c.317G>A (p.Arg106Gln)
|
rs148872301
|
0.00003
|
NM_002661.5(PLCG2):c.693-6G>C
|
rs755176167
|
0.00003
|
NM_002691.4(POLD1):c.1362C>T (p.Arg454=)
|
rs773075581
|
0.00003
|
NM_002691.4(POLD1):c.841-10A>G
|
rs140160345
|
0.00003
|
NM_002711.4(PPP1R3A):c.2843C>T (p.Thr948Met)
|
rs754703917
|
0.00003
|
NM_002843.4(PTPRJ):c.3373C>T (p.Arg1125Cys)
|
rs536396969
|
0.00003
|
NM_002875.5(RAD51):c.225+615G>A
|
rs539197008
|
0.00003
|
NM_002878.4(RAD51D):c.556C>T (p.Arg186Ter)
|
rs387906843
|
0.00003
|
NM_002878.4(RAD51D):c.878C>T (p.Ala293Val)
|
rs769732230
|
0.00003
|
NM_003480.4(MFAP5):c.157G>A (p.Ala53Thr)
|
rs576618912
|
0.00003
|
NM_003737.4(DCHS1):c.6988C>T (p.Arg2330Cys)
|
rs768737101
|
0.00003
|
NM_003738.5(PTCH2):c.2954A>G (p.Asn985Ser)
|
rs752127255
|
0.00003
|
NM_003742.4(ABCB11):c.3634G>A (p.Val1212Ile)
|
rs546906441
|
0.00003
|
NM_003999.3(OSMR):c.2538T>A (p.Asn846Lys)
|
rs771864692
|
0.00003
|
NM_004145.4(MYO9B):c.4300G>A (p.Ala1434Thr)
|
rs754563547
|
0.00003
|
NM_004183.4(BEST1):c.355G>C (p.Glu119Gln)
|
rs1805142
|
0.00003
|
NM_004360.5(CDH1):c.1225T>C (p.Trp409Arg)
|
rs587778176
|
0.00003
|
NM_004360.5(CDH1):c.1417G>A (p.Val473Ile)
|
rs36087757
|
0.00003
|
NM_004360.5(CDH1):c.2386C>T (p.Arg796Trp)
|
rs777363517
|
0.00003
|
NM_004360.5(CDH1):c.304G>A (p.Ala102Thr)
|
rs368492235
|
0.00003
|
NM_004525.3(LRP2):c.3013A>G (p.Arg1005Gly)
|
rs368148692
|
0.00003
|
NM_004544.4(NDUFA10):c.1022C>G (p.Pro341Arg)
|
rs377402379
|
0.00003
|
NM_004666.3(VNN1):c.334C>T (p.Arg112Cys)
|
rs746738777
|
0.00003
|
NM_004700.4(KCNQ4):c.1579A>T (p.Met527Leu)
|
rs759364617
|
0.00003
|
NM_004714.3(DYRK1B):c.1450C>T (p.Arg484Cys)
|
rs545752876
|
0.00003
|
NM_005215.4(DCC):c.4076C>T (p.Pro1359Leu)
|
rs750334840
|
0.00003
|
NM_005235.3(ERBB4):c.421+5G>A
|
rs778195807
|
0.00003
|
NM_005236.3(ERCC4):c.286A>C (p.Ser96Arg)
|
rs775257742
|
0.00003
|
NM_005245.4(FAT1):c.10195G>A (p.Asp3399Asn)
|
rs768392442
|
0.00003
|
NM_005357.4(LIPE):c.1291C>T (p.Arg431Cys)
|
rs142402894
|
0.00003
|
NM_005359.6(SMAD4):c.1215C>T (p.His405=)
|
rs751732234
|
0.00003
|
NM_005432.4(XRCC3):c.925G>A (p.Gly309Ser)
|
rs532124840
|
0.00003
|
NM_006231.4(POLE):c.424-10C>T
|
rs748433747
|
0.00003
|
NM_006231.4(POLE):c.786C>T (p.Asp262=)
|
rs201223598
|
0.00003
|
NM_006343.3(MERTK):c.1233G>C (p.Lys411Asn)
|
rs762917462
|
0.00003
|
NM_006424.3(SLC34A2):c.460A>G (p.Thr154Ala)
|
rs201866415
|
0.00003
|
NM_006892.4(DNMT3B):c.128C>T (p.Thr43Ile)
|
rs757214677
|
0.00003
|
NM_007194.4(CHEK2):c.1561C>T (p.Arg521Trp)
|
rs533475838
|
0.00003
|
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter)
|
rs587781269
|
0.00003
|
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala)
|
rs587780192
|
0.00003
|
NM_007294.4(BRCA1):c.116G>A (p.Cys39Tyr)
|
rs80357498
|
0.00003
|
NM_007294.4(BRCA1):c.1573G>A (p.Val525Ile)
|
rs80357273
|
0.00003
|
NM_007294.4(BRCA1):c.2447A>G (p.His816Arg)
|
rs80357108
|
0.00003
|
NM_007294.4(BRCA1):c.2726A>T (p.Asn909Ile)
|
rs80357127
|
0.00003
|
NM_007294.4(BRCA1):c.2862A>G (p.Leu954=)
|
rs559190752
|
0.00003
|
NM_007294.4(BRCA1):c.3063T>C (p.Ser1021=)
|
rs1364539273
|
0.00003
|
NM_007294.4(BRCA1):c.396C>A (p.Asn132Lys)
|
rs80357413
|
0.00003
|
NM_007294.4(BRCA1):c.398G>A (p.Arg133His)
|
rs80357357
|
0.00003
|
NM_007294.4(BRCA1):c.4987-33C>T
|
rs367645566
|
0.00003
|
NM_007294.4(BRCA1):c.5153-31A>G
|
rs370536578
|
0.00003
|
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter)
|
rs80357123
|
0.00003
|
NM_007294.4(BRCA1):c.5333-8C>T
|
rs80358084
|
0.00003
|
NM_007294.4(BRCA1):c.5347A>C (p.Met1783Leu)
|
rs80357012
|
0.00003
|
NM_007294.4(BRCA1):c.594-2A>C
|
rs80358033
|
0.00003
|
NM_007294.4(BRCA1):c.671-8A>G
|
rs80358144
|
0.00003
|
NM_007294.4(BRCA1):c.81-6T>C
|
rs80358179
|
0.00003
|
NM_007294.4(BRCA1):c.811G>A (p.Val271Met)
|
rs80357244
|
0.00003
|
NM_014336.5(AIPL1):c.112C>T (p.Arg38Cys)
|
rs200899521
|
0.00003
|
NM_014921.5(ADGRL1):c.1670G>A (p.Arg557Gln)
|
rs767170139
|
0.00003
|
NM_015221.4(DNMBP):c.4301G>A (p.Cys1434Tyr)
|
rs371661794
|
0.00003
|
NM_015559.3(SETBP1):c.1037C>T (p.Thr346Ile)
|
rs557430935
|
0.00003
|
NM_015610.4(WIPI2):c.1309G>A (p.Ala437Thr)
|
rs777129754
|
0.00003
|
NM_016239.4(MYO15A):c.9913G>A (p.Glu3305Lys)
|
rs535441567
|
0.00003
|
NM_016589.4(TIMMDC1):c.658A>G (p.Arg220Gly)
|
rs776252175
|
0.00003
|
NM_018124.4(RFWD3):c.1618C>T (p.Arg540Cys)
|
rs762604190
|
0.00003
|
NM_019109.5(ALG1):c.821G>A (p.Arg274His)
|
rs529013891
|
0.00003
|
NM_022124.6(CDH23):c.2789C>T (p.Pro930Leu)
|
rs763602387
|
0.00003
|
NM_022124.6(CDH23):c.9565C>T (p.Arg3189Trp)
|
rs121908353
|
0.00003
|
NM_024675.4(PALB2):c.1766C>T (p.Thr589Met)
|
rs773340677
|
0.00003
|
NM_024675.4(PALB2):c.2743G>A (p.Ala915Thr)
|
rs374736398
|
0.00003
|
NM_024675.4(PALB2):c.2748+15C>T
|
rs749756493
|
0.00003
|
NM_024675.4(PALB2):c.3146T>C (p.Met1049Thr)
|
rs138273800
|
0.00003
|
NM_024675.4(PALB2):c.94C>G (p.Leu32Val)
|
rs151316635
|
0.00003
|
NM_024675.4(PALB2):c.950C>T (p.Thr317Ile)
|
rs45548638
|
0.00003
|
NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser)
|
rs387906980
|
0.00003
|
NM_032043.3(BRIP1):c.2324A>G (p.Asn775Ser)
|
rs571108955
|
0.00003
|
NM_032043.3(BRIP1):c.2469G>T (p.Arg823Ser)
|
rs587780239
|
0.00003
|
NM_032043.3(BRIP1):c.2492+2dup
|
rs587780240
|
0.00003
|
NM_032043.3(BRIP1):c.2748C>T (p.Tyr916=)
|
rs555200296
|
0.00003
|
NM_032043.3(BRIP1):c.702G>A (p.Lys234=)
|
rs45512798
|
0.00003
|
NM_032043.3(BRIP1):c.728T>C (p.Ile243Thr)
|
rs587781860
|
0.00003
|
NM_032208.3(ANTXR1):c.1367C>T (p.Ala456Val)
|
rs141308086
|
0.00003
|
NM_052867.4(NALCN):c.2495A>G (p.Tyr832Cys)
|
rs549182297
|
0.00003
|
NM_080473.5(GATA5):c.605G>A (p.Arg202Gln)
|
rs782614097
|
0.00003
|
NM_080683.3(PTPN13):c.7409G>A (p.Arg2470His)
|
rs372369069
|
0.00003
|
NM_138694.4(PKHD1):c.3704G>A (p.Arg1235Gln)
|
rs567239866
|
0.00003
|
NM_144573.4(NEXN):c.1053+1G>A
|
rs397517843
|
0.00003
|
NM_144736.5(NDUFAF7):c.1268G>A (p.Arg423His)
|
rs141619444
|
0.00003
|
NM_152383.5(DIS3L2):c.1564A>G (p.Ser522Gly)
|
rs199980393
|
0.00003
|
NM_152709.5(STOX1):c.748A>G (p.Met250Val)
|
rs746173209
|
0.00003
|
NM_153700.2(STRC):c.4804C>T (p.Arg1602Trp)
|
rs370775837
|
0.00003
|
NM_170784.3(MKKS):c.862G>A (p.Val288Ile)
|
rs113032343
|
0.00003
|
NM_172351.3(CD46):c.643G>A (p.Val215Met)
|
rs535353049
|
0.00003
|
NM_173660.5(DOK7):c.983A>C (p.Gln328Pro)
|
rs752168445
|
0.00003
|
NM_181303.2(NLGN3):c.170C>T (p.Pro57Leu)
|
rs757975693
|
0.00003
|
NM_181882.3(PRX):c.589G>T (p.Glu197Ter)
|
rs753857146
|
0.00003
|
NM_182914.3(SYNE2):c.10327G>A (p.Val3443Met)
|
rs564182126
|
0.00003
|
NM_182914.3(SYNE2):c.8968G>A (p.Ala2990Thr)
|
rs748085293
|
0.00003
|
NM_194248.3(OTOF):c.2039G>A (p.Gly680Glu)
|
rs751952710
|
0.00003
|
NM_194248.3(OTOF):c.40C>T (p.Arg14Trp)
|
rs774530840
|
0.00003
|
NM_198578.4(LRRK2):c.7224G>A (p.Met2408Ile)
|
rs60545352
|
0.00003
|
NC_000002.12:g.30808092T>C
|
rs746117571
|
0.00002
|
NM_000038.6(APC):c.1554G>A (p.Thr518=)
|
rs546568052
|
0.00002
|
NM_000038.6(APC):c.1713A>G (p.Ala571=)
|
rs529306174
|
0.00002
|
NM_000038.6(APC):c.5225G>A (p.Arg1742His)
|
rs199775075
|
0.00002
|
NM_000038.6(APC):c.5363G>A (p.Arg1788His)
|
rs201472075
|
0.00002
|
NM_000038.6(APC):c.7781C>G (p.Ser2594Cys)
|
rs543396310
|
0.00002
|
NM_000038.6(APC):c.7821C>T (p.Ser2607=)
|
rs532235331
|
0.00002
|
NM_000051.4(ATM):c.2085G>A (p.Leu695=)
|
rs786202229
|
0.00002
|
NM_000051.4(ATM):c.2124+14A>G
|
rs772719886
|
0.00002
|
NM_000051.4(ATM):c.3285-15C>T
|
rs770928986
|
0.00002
|
NM_000051.4(ATM):c.3743A>G (p.Tyr1248Cys)
|
rs766226370
|
0.00002
|
NM_000051.4(ATM):c.3963G>A (p.Met1321Ile)
|
rs35184530
|
0.00002
|
NM_000051.4(ATM):c.4247A>G (p.Gln1416Arg)
|
rs758180727
|
0.00002
|
NM_000051.4(ATM):c.5002C>T (p.Leu1668=)
|
rs747317946
|
0.00002
|
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr)
|
rs148064985
|
0.00002
|
NM_000051.4(ATM):c.6814G>A (p.Glu2272Lys)
|
rs886039471
|
0.00002
|
NM_000051.4(ATM):c.7808A>G (p.Asn2603Ser)
|
rs150355232
|
0.00002
|
NM_000051.4(ATM):c.8151+11C>T
|
rs555381912
|
0.00002
|
NM_000051.4(ATM):c.8450A>G (p.Tyr2817Cys)
|
rs747764678
|
0.00002
|
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys)
|
rs587782292
|
0.00002
|
NM_000059.4(BRCA2):c.10089A>G (p.Ile3363Met)
|
rs80358390
|
0.00002
|
NM_000059.4(BRCA2):c.10154G>A (p.Arg3385His)
|
rs80358398
|
0.00002
|
NM_000059.4(BRCA2):c.10202C>T (p.Thr3401Met)
|
rs55853199
|
0.00002
|
NM_000059.4(BRCA2):c.1409A>C (p.Glu470Ala)
|
rs750341436
|
0.00002
|
NM_000059.4(BRCA2):c.2256C>T (p.Asp752=)
|
rs766384913
|
0.00002
|
NM_000059.4(BRCA2):c.2389A>G (p.Lys797Glu)
|
rs587782737
|
0.00002
|
NM_000059.4(BRCA2):c.2716A>G (p.Thr906Ala)
|
rs80358528
|
0.00002
|
NM_000059.4(BRCA2):c.2944A>C (p.Ile982Leu)
|
rs28897717
|
0.00002
|
NM_000059.4(BRCA2):c.3835A>G (p.Asn1279Asp)
|
rs80358626
|
0.00002
|
NM_000059.4(BRCA2):c.4178C>T (p.Ala1393Val)
|
rs398122776
|
0.00002
|
NM_000059.4(BRCA2):c.4779A>C (p.Glu1593Asp)
|
rs80358703
|
0.00002
|
NM_000059.4(BRCA2):c.4819A>G (p.Ile1607Val)
|
rs200582465
|
0.00002
|
NM_000059.4(BRCA2):c.5096A>G (p.Asp1699Gly)
|
rs80358732
|
0.00002
|
NM_000059.4(BRCA2):c.5428G>A (p.Val1810Ile)
|
rs80358766
|
0.00002
|
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter)
|
rs80358785
|
0.00002
|
NM_000059.4(BRCA2):c.5813G>C (p.Gly1938Ala)
|
rs41293499
|
0.00002
|
NM_000059.4(BRCA2):c.5836T>C (p.Ser1946Pro)
|
rs80358811
|
0.00002
|
NM_000059.4(BRCA2):c.5896C>T (p.His1966Tyr)
|
rs80358822
|
0.00002
|
NM_000059.4(BRCA2):c.7376A>G (p.Lys2459Arg)
|
rs553984945
|
0.00002
|
NM_000059.4(BRCA2):c.7413A>G (p.Thr2471=)
|
rs138067005
|
0.00002
|
NM_000059.4(BRCA2):c.7534C>T (p.Leu2512Phe)
|
rs80358980
|
0.00002
|
NM_000059.4(BRCA2):c.7559G>A (p.Arg2520Gln)
|
rs80358982
|
0.00002
|
NM_000059.4(BRCA2):c.7914T>G (p.Phe2638Leu)
|
rs764248927
|
0.00002
|
NM_000059.4(BRCA2):c.794-11T>C
|
rs81002822
|
0.00002
|
NM_000059.4(BRCA2):c.800G>A (p.Gly267Glu)
|
rs80359036
|
0.00002
|
NM_000059.4(BRCA2):c.8027T>C (p.Met2676Thr)
|
rs80359038
|
0.00002
|
NM_000059.4(BRCA2):c.8505A>G (p.Ser2835=)
|
rs765655952
|
0.00002
|
NM_000059.4(BRCA2):c.8687G>A (p.Arg2896His)
|
rs80359128
|
0.00002
|
NM_000059.4(BRCA2):c.9085G>A (p.Ala3029Thr)
|
rs56179254
|
0.00002
|
NM_000059.4(BRCA2):c.9234C>T (p.Val3078=)
|
rs587782428
|
0.00002
|
NM_000059.4(BRCA2):c.9270C>T (p.Phe3090=)
|
rs587780873
|
0.00002
|
NM_000059.4(BRCA2):c.9285C>T (p.Asp3095=)
|
rs80359198
|
0.00002
|
NM_000059.4(BRCA2):c.9294C>G (p.Tyr3098Ter)
|
rs80359200
|
0.00002
|
NM_000059.4(BRCA2):c.9383G>A (p.Arg3128Gln)
|
rs397507427
|
0.00002
|
NM_000059.4(BRCA2):c.9728C>T (p.Pro3243Leu)
|
rs80359241
|
0.00002
|
NM_000097.7(CPOX):c.178C>G (p.Arg60Gly)
|
rs780436492
|
0.00002
|
NM_000108.5(DLD):c.316T>A (p.Phe106Ile)
|
rs1242981665
|
0.00002
|
NM_000127.3(EXT1):c.1360G>A (p.Val454Ile)
|
rs201504622
|
0.00002
|
NM_000136.3(FANCC):c.383A>G (p.Asp128Gly)
|
rs555753798
|
0.00002
|
NM_000136.3(FANCC):c.457-7T>C
|
rs749994612
|
0.00002
|
NM_000136.3(FANCC):c.843+1G>A
|
rs587779909
|
0.00002
|
NM_000152.5(GAA):c.2597A>T (p.Glu866Val)
|
rs951742543
|
0.00002
|
NM_000159.4(GCDH):c.727C>T (p.Arg243Trp)
|
rs549254182
|
0.00002
|
NM_000179.3(MSH6):c.1007C>G (p.Thr336Ser)
|
rs587782102
|
0.00002
|
NM_000179.3(MSH6):c.10C>T (p.Gln4Ter)
|
rs786201042
|
0.00002
|
NM_000179.3(MSH6):c.1159G>C (p.Asp387His)
|
rs746532720
|
0.00002
|
NM_000179.3(MSH6):c.1493A>G (p.Lys498Arg)
|
rs147136417
|
0.00002
|
NM_000179.3(MSH6):c.1501C>T (p.His501Tyr)
|
rs779411998
|
0.00002
|
NM_000179.3(MSH6):c.1773A>G (p.Pro591=)
|
rs752239740
|
0.00002
|
NM_000179.3(MSH6):c.2092C>G (p.Gln698Glu)
|
rs63750832
|
0.00002
|
NM_000179.3(MSH6):c.2241G>A (p.Leu747=)
|
rs377722465
|
0.00002
|
NM_000179.3(MSH6):c.2511C>G (p.His837Gln)
|
rs587779925
|
0.00002
|
NM_000179.3(MSH6):c.2857G>A (p.Glu953Lys)
|
rs753034685
|
0.00002
|
NM_000179.3(MSH6):c.2889C>T (p.Gly963=)
|
rs771726914
|
0.00002
|
NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter)
|
rs63749843
|
0.00002
|
NM_000179.3(MSH6):c.3205G>C (p.Gly1069Arg)
|
rs764113705
|
0.00002
|
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys)
|
rs63750617
|
0.00002
|
NM_000179.3(MSH6):c.354A>G (p.Thr118=)
|
rs558590898
|
0.00002
|
NM_000179.3(MSH6):c.3759AGA[3] (p.Glu1254dup)
|
rs587779937
|
0.00002
|
NM_000179.3(MSH6):c.3851C>T (p.Thr1284Met)
|
rs63750836
|
0.00002
|
NM_000179.3(MSH6):c.628-8C>T
|
rs767991179
|
0.00002
|
NM_000179.3(MSH6):c.852T>C (p.Asp284=)
|
rs1057520320
|
0.00002
|
NM_000179.3(MSH6):c.957G>C (p.Thr319=)
|
rs375210430
|
0.00002
|
NM_000188.3(HK1):c.2407A>G (p.Ile803Val)
|
rs1422475032
|
0.00002
|
NM_000222.3(KIT):c.757-9A>G
|
rs367986084
|
0.00002
|
NM_000238.4(KCNH2):c.1459G>A (p.Gly487Ser)
|
rs562875924
|
0.00002
|
NM_000249.4(MLH1):c.226G>A (p.Val76Ile)
|
rs878853788
|
0.00002
|
NM_000249.4(MLH1):c.303T>G (p.Gly101=)
|
rs4647220
|
0.00002
|
NM_000251.3(MSH2):c.1014A>C (p.Gly338=)
|
rs774083607
|
0.00002
|
NM_000251.3(MSH2):c.1131A>G (p.Gln377=)
|
rs181852377
|
0.00002
|
NM_000251.3(MSH2):c.1200C>G (p.Asn400Lys)
|
rs1301023135
|
0.00002
|
NM_000251.3(MSH2):c.1510+11G>C
|
rs370675562
|
0.00002
|
NM_000251.3(MSH2):c.1943T>A (p.Ile648Asn)
|
rs763100088
|
0.00002
|
NM_000251.3(MSH2):c.2178G>C (p.Met726Ile)
|
rs587782396
|
0.00002
|
NM_000251.3(MSH2):c.2377C>G (p.Gln793Glu)
|
rs730881769
|
0.00002
|
NM_000251.3(MSH2):c.581T>C (p.Ile194Thr)
|
rs730881778
|
0.00002
|
NM_000251.3(MSH2):c.792+5A>G
|
rs267607935
|
0.00002
|
NM_000251.3(MSH2):c.894G>C (p.Gln298His)
|
rs587781397
|
0.00002
|
NM_000314.8(PTEN):c.411A>G (p.Ala137=)
|
rs144545031
|
0.00002
|
NM_000435.3(NOTCH3):c.1247T>A (p.Leu416Gln)
|
rs749874158
|
0.00002
|
NM_000455.5(STK11):c.1040C>T (p.Ala347Val)
|
rs587782058
|
0.00002
|
NM_000455.5(STK11):c.1109-13G>A
|
rs568152768
|
0.00002
|
NM_000455.5(STK11):c.464+5G>A
|
rs587781681
|
0.00002
|
NM_000455.5(STK11):c.735C>G (p.Leu245=)
|
rs773147894
|
0.00002
|
NM_000465.4(BARD1):c.2279C>T (p.Ser760Leu)
|
rs730881425
|
0.00002
|
NM_000465.4(BARD1):c.556A>G (p.Ser186Gly)
|
rs16852741
|
0.00002
|
NM_000494.4(COL17A1):c.3580T>C (p.Ser1194Pro)
|
rs139697030
|
0.00002
|
NM_000518.5(HBB):c.173A>G (p.Asn58Ser)
|
rs34589620
|
0.00002
|
NM_000535.7(PMS2):c.1048C>T (p.Leu350Phe)
|
rs587782875
|
0.00002
|
NM_000535.7(PMS2):c.1629C>T (p.Asp543=)
|
rs111673299
|
0.00002
|
NM_000535.7(PMS2):c.2174C>T (p.Ala725Val)
|
rs150630090
|
0.00002
|
NM_000535.7(PMS2):c.2264T>C (p.Ile755Thr)
|
rs386833410
|
0.00002
|
NM_000535.7(PMS2):c.2349C>T (p.Val783=)
|
rs751036491
|
0.00002
|
NM_000535.7(PMS2):c.705+3A>G
|
rs764334813
|
0.00002
|
NM_000535.7(PMS2):c.706-13T>C
|
rs730881918
|
0.00002
|
NM_000535.7(PMS2):c.988+10A>G
|
rs372554253
|
0.00002
|
NM_000546.6(TP53):c.18A>C (p.Ser6=)
|
rs573130482
|
0.00002
|
NM_000548.5(TSC2):c.3818C>T (p.Ala1273Val)
|
rs749367382
|
0.00002
|
NM_000550.3(TYRP1):c.611G>A (p.Gly204Glu)
|
rs771708962
|
0.00002
|
NM_000578.4(SLC11A1):c.811C>T (p.Arg271Trp)
|
rs765411619
|
0.00002
|
NM_000601.6(HGF):c.229A>G (p.Asn77Asp)
|
rs765051974
|
0.00002
|
NM_000618.5(IGF1):c.380C>T (p.Thr127Ile)
|
rs776234219
|
0.00002
|
NM_000921.5(PDE3A):c.1657A>G (p.Thr553Ala)
|
rs766683208
|
0.00002
|
NM_001008537.3(NEXMIF):c.1883G>A (p.Arg628Gln)
|
rs747436946
|
0.00002
|
NM_001009944.3(PKD1):c.-187G>A
|
rs1304295296
|
0.00002
|
NM_001009944.3(PKD1):c.-207A>G
|
rs1380968772
|
0.00002
|
NM_001009944.3(PKD1):c.11156+4C>T
|
rs1417376349
|
0.00002
|
NM_001009944.3(PKD1):c.2068G>A (p.Val690Ile)
|
rs948344824
|
0.00002
|
NM_001009944.3(PKD1):c.3344C>T (p.Thr1115Met)
|
rs552292318
|
0.00002
|
NM_001009944.3(PKD1):c.360-5T>C
|
rs4018168
|
0.00002
|
NM_001009944.3(PKD1):c.3906C>T (p.Ala1302=)
|
rs547817931
|
0.00002
|
NM_001009944.3(PKD1):c.773C>T (p.Thr258Ile)
|
rs754889452
|
0.00002
|
NM_001009944.3(PKD1):c.8061G>A (p.Thr2687=)
|
rs745338344
|
0.00002
|
NM_001009944.3(PKD1):c.8366A>G (p.Asp2789Gly)
|
rs772565411
|
0.00002
|
NM_001010892.3(RSPH4A):c.1393C>T (p.Arg465Ter)
|
rs755782051
|
0.00002
|
NM_001035.3(RYR2):c.1354G>A (p.Val452Ile)
|
rs375218751
|
0.00002
|
NM_001048174.2(MUTYH):c.383G>A (p.Trp128Ter)
|
rs762307622
|
0.00002
|
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys)
|
rs747993448
|
0.00002
|
NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp)
|
rs34126013
|
0.00002
|
NM_001048174.2(MUTYH):c.649C>T (p.Arg217Cys)
|
rs200495564
|
0.00002
|
NM_001048174.2(MUTYH):c.655C>T (p.Arg219Ter)
|
rs587782885
|
0.00002
|
NM_001077.4(UGT2B17):c.2T>C (p.Met1Thr)
|
rs760181041
|
0.00002
|
NM_001083962.2(TCF4):c.550-22803C>T
|
rs891060887
|
0.00002
|
NM_001123385.2(BCOR):c.3950C>T (p.Pro1317Leu)
|
rs780412607
|
0.00002
|
NM_001130698.2(TRPC3):c.1268G>A (p.Cys423Tyr)
|
rs199527931
|
0.00002
|
NM_001143808.2(BDNF):c.-22+2T>G
|
rs751074725
|
0.00002
|
NM_001145073.3(USP27X):c.-79G>C
|
rs916724991
|
0.00002
|
NM_001178020.3(BEAN1):c.269G>A (p.Arg90Gln)
|
rs767479273
|
0.00002
|
NM_001195553.2(DCX):c.-22-491A>G
|
rs1298342663
|
0.00002
|
NM_001231.5(CASQ1):c.578-3C>G
|
rs373781900
|
0.00002
|
NM_001286577.2(C2CD3):c.1562A>G (p.Asp521Gly)
|
rs367961250
|
0.00002
|
NM_001348323.3(TRIP12):c.4117A>G (p.Ile1373Val)
|
rs199688160
|
0.00002
|
NM_001365276.2(TNXB):c.7774G>A (p.Gly2592Ser)
|
rs767643312
|
0.00002
|
NM_001365276.2(TNXB):c.7919C>G (p.Thr2640Ser)
|
rs778066136
|
0.00002
|
NM_001367943.1(TCF7L2):c.397G>A (p.Gly133Ser)
|
rs368705098
|
0.00002
|
NM_001369.3(DNAH5):c.12604G>A (p.Gly4202Ser)
|
rs748903850
|
0.00002
|
NM_001371720.2(MUC1):c.28T>C (p.Phe10Leu)
|
rs759009730
|
0.00002
|
NM_001371928.1(AHDC1):c.1675G>A (p.Gly559Ser)
|
rs765994795
|
0.00002
|
NM_001371986.1(UNC80):c.5050G>T (p.Ala1684Ser)
|
rs772457874
|
0.00002
|
NM_001374353.1(GLI2):c.515C>A (p.Thr172Asn)
|
rs200720726
|
0.00002
|
NM_001377295.2(GNAT2):c.896C>T (p.Ala299Val)
|
rs200056419
|
0.00002
|
NM_001382347.1(MYO5A):c.4103G>A (p.Arg1368His)
|
rs753717165
|
0.00002
|
NM_001385079.1(PDE10A):c.2427C>A (p.Asn809Lys)
|
rs757846138
|
0.00002
|
NM_001849.4(COL6A2):c.2054C>T (p.Ser685Leu)
|
rs564873527
|
0.00002
|
NM_001853.4(COL9A3):c.800G>A (p.Arg267Gln)
|
rs749822735
|
0.00002
|
NM_002016.2(FLG):c.7082G>A (p.Arg2361Gln)
|
rs1457150766
|
0.00002
|
NM_002049.4(GATA1):c.821G>A (p.Ser274Asn)
|
rs374457234
|
0.00002
|
NM_002439.5(MSH3):c.187C>G (p.Pro63Ala)
|
rs2405876
|
0.00002
|
NM_002447.4(MST1R):c.4129C>T (p.Gln1377Ter)
|
rs368400291
|
0.00002
|
NM_002471.4(MYH6):c.1042G>A (p.Ala348Thr)
|
rs1002843684
|
0.00002
|
NM_002471.4(MYH6):c.731G>A (p.Arg244His)
|
rs200645920
|
0.00002
|
NM_002476.2(MYL4):c.499A>G (p.Thr167Ala)
|
rs535742062
|
0.00002
|
NM_002485.5(NBN):c.104T>C (p.Ile35Thr)
|
rs587780773
|
0.00002
|
NM_002485.5(NBN):c.1591A>G (p.Ile531Val)
|
rs587782330
|
0.00002
|
NM_002485.5(NBN):c.1667T>A (p.Val556Glu)
|
rs558023830
|
0.00002
|
NM_002691.4(POLD1):c.1138-3C>T
|
rs200072694
|
0.00002
|
NM_002691.4(POLD1):c.1791C>T (p.Pro597=)
|
rs138293440
|
0.00002
|
NM_002691.4(POLD1):c.2045G>A (p.Arg682Gln)
|
rs773665739
|
0.00002
|
NM_002691.4(POLD1):c.3136G>T (p.Ala1046Ser)
|
rs751088347
|
0.00002
|
NM_002860.4(ALDH18A1):c.2308G>A (p.Val770Met)
|
rs369153920
|
0.00002
|
NM_002878.4(RAD51D):c.164G>A (p.Arg55Gln)
|
rs151198586
|
0.00002
|
NM_002878.4(RAD51D):c.171G>A (p.Leu57=)
|
rs786202885
|
0.00002
|
NM_002878.4(RAD51D):c.363del (p.Ala122fs)
|
rs730881935
|
0.00002
|
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu)
|
rs370228071
|
0.00002
|
NM_002878.4(RAD51D):c.872G>A (p.Arg291His)
|
rs150134822
|
0.00002
|
NM_002878.4(RAD51D):c.898C>T (p.Arg300Ter)
|
rs750621215
|
0.00002
|
NM_003361.4(UMOD):c.758G>A (p.Gly253Asp)
|
rs760253448
|
0.00002
|
NM_003482.4(KMT2D):c.5477G>T (p.Gly1826Val)
|
rs574989512
|
0.00002
|
NM_003839.4(TNFRSF11A):c.661G>A (p.Ala221Thr)
|
rs537966416
|
0.00002
|
NM_003944.4(SELENBP1):c.853T>C (p.Trp285Arg)
|
rs771038258
|
0.00002
|
NM_004304.5(ALK):c.871C>T (p.Arg291Cys)
|
rs748854412
|
0.00002
|
NM_004360.5(CDH1):c.1273G>A (p.Val425Ile)
|
rs570930882
|
0.00002
|
NM_004360.5(CDH1):c.1610C>T (p.Pro537Leu)
|
rs730881667
|
0.00002
|
NM_004360.5(CDH1):c.188G>A (p.Arg63Gln)
|
rs587780117
|
0.00002
|
NM_004360.5(CDH1):c.2131C>G (p.Leu711Val)
|
rs121964871
|
0.00002
|
NM_004360.5(CDH1):c.2296-14T>C
|
rs755950355
|
0.00002
|
NM_004360.5(CDH1):c.2359G>A (p.Val787Ile)
|
rs766270336
|
0.00002
|
NM_004360.5(CDH1):c.2371C>T (p.Leu791Phe)
|
rs786202598
|
0.00002
|
NM_004360.5(CDH1):c.371G>A (p.Arg124His)
|
rs115418995
|
0.00002
|
NM_004360.5(CDH1):c.378G>A (p.Pro126=)
|
rs786201504
|
0.00002
|
NM_004370.6(COL12A1):c.3468T>C (p.Asn1156=)
|
rs774082346
|
0.00002
|
NM_004933.3(CDH15):c.934C>T (p.Arg312Cys)
|
rs201161996
|
0.00002
|
NM_005144.5(HR):c.2698G>A (p.Ala900Thr)
|
rs367558699
|
0.00002
|
NM_005202.4(COL8A2):c.1876G>T (p.Val626Leu)
|
rs928614322
|
0.00002
|
NM_005215.4(DCC):c.2482C>T (p.Pro828Ser)
|
rs1453579906
|
0.00002
|
NM_005236.3(ERCC4):c.256C>T (p.Arg86Cys)
|
rs769932063
|
0.00002
|
NM_005245.4(FAT1):c.10834C>A (p.Leu3612Ile)
|
rs764024153
|
0.00002
|
NM_005251.3(FOXC2):c.1469A>T (p.His490Leu)
|
rs778788148
|
0.00002
|
NM_005267.5(GJA8):c.259A>G (p.Thr87Ala)
|
rs782569623
|
0.00002
|
NM_005422.4(TECTA):c.3866C>T (p.Ala1289Val)
|
rs368634844
|
0.00002
|
NM_005456.4(MAPK8IP1):c.715C>T (p.Arg239Cys)
|
rs768351109
|
0.00002
|
NM_005529.7(HSPG2):c.10085G>A (p.Arg3362His)
|
rs748180505
|
0.00002
|
NM_005660.3(SLC35A2):c.1129C>T (p.Arg377Cys)
|
rs782483874
|
0.00002
|
NM_006121.4(KRT1):c.1642G>A (p.Gly548Ser)
|
rs775570636
|
0.00002
|
NM_006231.4(POLE):c.1852G>A (p.Glu618Lys)
|
rs1377657524
|
0.00002
|
NM_006231.4(POLE):c.3614C>T (p.Pro1205Leu)
|
rs772686048
|
0.00002
|
NM_006231.4(POLE):c.3913G>A (p.Gly1305Arg)
|
rs563990655
|
0.00002
|
NM_006231.4(POLE):c.5481G>A (p.Ser1827=)
|
rs775867327
|
0.00002
|
NM_006231.4(POLE):c.5761A>G (p.Asn1921Asp)
|
rs771980261
|
0.00002
|
NM_006262.4(PRPH):c.860A>G (p.Tyr287Cys)
|
rs372095080
|
0.00002
|
NM_007118.4(TRIO):c.2874+4A>G
|
rs1744653458
|
0.00002
|
NM_007194.4(CHEK2):c.*5C>T
|
rs587781367
|
0.00002
|
NM_007194.4(CHEK2):c.1053G>T (p.Glu351Asp)
|
rs587782268
|
0.00002
|
NM_007194.4(CHEK2):c.1091T>C (p.Ile364Thr)
|
rs774179198
|
0.00002
|
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser)
|
rs200928781
|
0.00002
|
NM_007194.4(CHEK2):c.1175C>T (p.Ala392Val)
|
rs373073383
|
0.00002
|
NM_007194.4(CHEK2):c.1383C>G (p.Asp461Glu)
|
rs1060502702
|
0.00002
|
NM_007194.4(CHEK2):c.275C>T (p.Pro92Leu)
|
rs779269031
|
0.00002
|
NM_007194.4(CHEK2):c.480A>G (p.Ile160Met)
|
rs575910805
|
0.00002
|
NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys)
|
rs587780194
|
0.00002
|
NM_007231.5(SLC6A14):c.145A>G (p.Met49Val)
|
rs369863561
|
0.00002
|
NM_007294.4(BRCA1):c.19C>T (p.Arg7Cys)
|
rs80356994
|
0.00002
|
NM_007294.4(BRCA1):c.2006T>C (p.Met669Thr)
|
rs80356895
|
0.00002
|
NM_007294.4(BRCA1):c.2074C>T (p.His692Tyr)
|
rs545736576
|
0.00002
|
NM_007294.4(BRCA1):c.2525A>G (p.Glu842Gly)
|
rs28897684
|
0.00002
|
NM_007294.4(BRCA1):c.2662C>T (p.His888Tyr)
|
rs80357480
|
0.00002
|
NM_007294.4(BRCA1):c.3130A>G (p.Ile1044Val)
|
rs80357271
|
0.00002
|
NM_007294.4(BRCA1):c.3238T>C (p.Leu1080=)
|
rs754597283
|
0.00002
|
NM_007294.4(BRCA1):c.3636A>G (p.Ser1212=)
|
rs148038877
|
0.00002
|
NM_007294.4(BRCA1):c.3657G>C (p.Glu1219Asp)
|
rs80356876
|
0.00002
|
NM_007294.4(BRCA1):c.3835G>A (p.Ala1279Thr)
|
rs80357036
|
0.00002
|
NM_007294.4(BRCA1):c.4097-11T>C
|
rs80358072
|
0.00002
|
NM_007294.4(BRCA1):c.4245A>G (p.Glu1415=)
|
rs41293453
|
0.00002
|
NM_007294.4(BRCA1):c.4993G>A (p.Val1665Met)
|
rs80357169
|
0.00002
|
NM_007294.4(BRCA1):c.5068A>C (p.Lys1690Gln)
|
rs397507239
|
0.00002
|
NM_007294.4(BRCA1):c.5074+6C>G
|
rs80358032
|
0.00002
|
NM_007294.4(BRCA1):c.5128G>A (p.Gly1710Arg)
|
rs397509229
|
0.00002
|
NM_007294.4(BRCA1):c.5175A>G (p.Glu1725=)
|
rs191373374
|
0.00002
|
NM_007294.4(BRCA1):c.522A>G (p.Gln174=)
|
rs765432756
|
0.00002
|
NM_007294.4(BRCA1):c.5274A>G (p.Arg1758=)
|
rs758739620
|
0.00002
|
NM_007294.4(BRCA1):c.5407-73A>C
|
rs1267083930
|
0.00002
|
NM_007294.4(BRCA1):c.5429T>C (p.Val1810Ala)
|
rs80357451
|
0.00002
|
NM_007294.4(BRCA1):c.5531T>G (p.Leu1844Arg)
|
rs80357323
|
0.00002
|
NM_007294.4(BRCA1):c.5576C>G (p.Pro1859Arg)
|
rs80357322
|
0.00002
|
NM_007294.4(BRCA1):c.994C>T (p.Arg332Trp)
|
rs80357176
|
0.00002
|
NM_007332.3(TRPA1):c.1372C>T (p.Arg458Cys)
|
rs374228201
|
0.00002
|
NM_012096.3(APPL1):c.136C>T (p.Arg46Trp)
|
rs765656762
|
0.00002
|
NM_012186.3(FOXE3):c.543G>T (p.Gly181=)
|
rs765016567
|
0.00002
|
NM_013275.6(ANKRD11):c.5977C>T (p.Arg1993Cys)
|
rs773403872
|
0.00002
|
NM_014270.5(SLC7A9):c.466G>A (p.Ala156Thr)
|
rs1294879564
|
0.00002
|
NM_014585.6(SLC40A1):c.1357A>T (p.Ile453Phe)
|
rs376571265
|
0.00002
|
NM_014629.4(ARHGEF10):c.2396G>A (p.Arg799Gln)
|
rs760234206
|
0.00002
|
NM_014905.5(GLS):c.1037A>G (p.Lys346Arg)
|
rs770047438
|
0.00002
|
NM_015100.4(POGZ):c.871C>T (p.Pro291Ser)
|
rs761129846
|
0.00002
|
NM_015102.5(NPHP4):c.3977G>A (p.Arg1326His)
|
rs191062831
|
0.00002
|
NM_015338.6(ASXL1):c.4207C>T (p.Pro1403Ser)
|
rs148670852
|
0.00002
|
NM_015559.3(SETBP1):c.2117A>G (p.Glu706Gly)
|
rs530739140
|
0.00002
|
NM_015978.3(TNNI3K):c.1176A>C (p.Lys392Asn)
|
rs756919841
|
0.00002
|
NM_017433.5(MYO3A):c.1997A>T (p.Asn666Ile)
|
rs200162942
|
0.00002
|
NM_017882.3(CLN6):c.49G>A (p.Gly17Ser)
|
rs763944821
|
0.00002
|
NM_018136.5(ASPM):c.2930G>A (p.Arg977His)
|
rs767547880
|
0.00002
|
NM_019112.4(ABCA7):c.913C>T (p.Arg305Trp)
|
rs749959049
|
0.00002
|
NM_020223.4(FAM20C):c.631G>A (p.Glu211Lys)
|
rs187691945
|
0.00002
|
NM_020863.4(ZFAT):c.2906C>T (p.Thr969Met)
|
rs777595729
|
0.00002
|
NM_021930.6(RINT1):c.1949C>T (p.Pro650Leu)
|
rs778220756
|
0.00002
|
NM_021930.6(RINT1):c.63C>G (p.Asp21Glu)
|
rs779952771
|
0.00002
|
NM_024675.4(PALB2):c.-2C>T
|
rs587781902
|
0.00002
|
NM_024675.4(PALB2):c.1054G>C (p.Glu352Gln)
|
rs201035780
|
0.00002
|
NM_024675.4(PALB2):c.149A>C (p.Lys50Thr)
|
rs763598472
|
0.00002
|
NM_024675.4(PALB2):c.1955G>A (p.Ser652Asn)
|
rs587781818
|
0.00002
|
NM_024675.4(PALB2):c.2257C>T (p.Arg753Ter)
|
rs180177110
|
0.00002
|
NM_024675.4(PALB2):c.2417C>T (p.Pro806Leu)
|
rs45464991
|
0.00002
|
NM_024675.4(PALB2):c.2612A>G (p.Asp871Gly)
|
rs515726090
|
0.00002
|
NM_024675.4(PALB2):c.3323del (p.Tyr1108fs)
|
rs180177135
|
0.00002
|
NM_024675.4(PALB2):c.995T>A (p.Leu332His)
|
rs377149139
|
0.00002
|
NM_025114.4(CEP290):c.1078C>T (p.Arg360Ter)
|
rs776645403
|
0.00002
|
NM_032043.3(BRIP1):c.1433A>G (p.His478Arg)
|
rs45501097
|
0.00002
|
NM_032043.3(BRIP1):c.1899C>G (p.Ile633Met)
|
rs28997572
|
0.00002
|
NM_032043.3(BRIP1):c.2406C>T (p.Asp802=)
|
rs748981650
|
0.00002
|
NM_032043.3(BRIP1):c.3064G>A (p.Glu1022Lys)
|
rs587782808
|
0.00002
|
NM_032043.3(BRIP1):c.3296T>G (p.Leu1099Arg)
|
rs772709195
|
0.00002
|
NM_032043.3(BRIP1):c.3331G>C (p.Glu1111Gln)
|
rs587780248
|
0.00002
|
NM_032043.3(BRIP1):c.386C>T (p.Pro129Leu)
|
rs587780831
|
0.00002
|
NM_032043.3(BRIP1):c.924A>G (p.Lys308=)
|
rs374974885
|
0.00002
|
NM_032131.6(ARMC2):c.409A>G (p.Arg137Gly)
|
rs761127076
|
0.00002
|
NM_033305.3(VPS13A):c.5246C>T (p.Ser1749Leu)
|
rs781398633
|
0.00002
|
NM_058216.3(RAD51C):c.706-2A>G
|
rs587780259
|
0.00002
|
NM_080683.3(PTPN13):c.2834C>T (p.Pro945Leu)
|
rs573847252
|
0.00002
|
NM_138694.4(PKHD1):c.6266C>T (p.Pro2089Leu)
|
rs376477480
|
0.00002
|
NM_138927.4(SON):c.7090A>G (p.Met2364Val)
|
rs765377794
|
0.00002
|
NM_144672.4(OTOA):c.244G>A (p.Ala82Thr)
|
rs200249536
|
0.00002
|
NM_152564.5(VPS13B):c.5845C>T (p.Arg1949Ter)
|
rs180177365
|
0.00002
|
NM_170601.5(SIAE):c.886C>T (p.Leu296Phe)
|
rs200609324
|
0.00002
|
NM_172232.4(ABCA5):c.1951C>T (p.His651Tyr)
|
rs186015974
|
0.00002
|
NM_173086.5(KRT6C):c.1568T>A (p.Ile523Asn)
|
rs1236573294
|
0.00002
|
NM_173353.4(TPH2):c.299G>A (p.Arg100Gln)
|
rs530018658
|
0.00002
|
NM_173651.4(FSIP2):c.2620A>T (p.Ser874Cys)
|
rs753495425
|
0.00002
|
NM_177438.3(DICER1):c.4199A>G (p.Asp1400Gly)
|
rs139536688
|
0.00002
|
NM_178857.6(RP1L1):c.434G>A (p.Arg145Gln)
|
rs373569904
|
0.00002
|
NM_194302.4(CFAP65):c.5485C>A (p.Gln1829Lys)
|
rs535436534
|
0.00002
|
NM_198334.3(GANAB):c.560+469C>T
|
rs777394229
|
0.00002
|
NC_000003.12:g.129525787C>T
|
rs1458486943
|
0.00001
|
NC_000006.12:g.29941373A>G
|
rs1370973378
|
0.00001
|
NC_000015.10:g.65867479G>C
|
rs1446851303
|
0.00001
|
NC_000017.11:g.43125372C>G
|
rs1438870433
|
0.00001
|
NM_000038.6(APC):c.1121G>A (p.Arg374Gln)
|
rs141582813
|
0.00001
|
NM_000038.6(APC):c.1213C>T (p.Arg405Ter)
|
rs587779780
|
0.00001
|
NM_000038.6(APC):c.1596A>G (p.Gln532=)
|
rs1331131200
|
0.00001
|
NM_000038.6(APC):c.1958+5A>G
|
rs762899641
|
0.00001
|
NM_000038.6(APC):c.2105G>A (p.Gly702Glu)
|
rs876658289
|
0.00001
|
NM_000038.6(APC):c.262C>T (p.Arg88Trp)
|
rs746592911
|
0.00001
|
NM_000038.6(APC):c.2909G>A (p.Ser970Asn)
|
rs767473403
|
0.00001
|
NM_000038.6(APC):c.3378C>G (p.Ser1126Arg)
|
rs149353082
|
0.00001
|
NM_000038.6(APC):c.3415A>C (p.Lys1139Gln)
|
rs201550951
|
0.00001
|
NM_000038.6(APC):c.5017G>A (p.Glu1673Lys)
|
rs587779796
|
0.00001
|
NM_000038.6(APC):c.516T>C (p.Leu172=)
|
rs777643585
|
0.00001
|
NM_000038.6(APC):c.5177A>G (p.Glu1726Gly)
|
rs587780598
|
0.00001
|
NM_000038.6(APC):c.5194A>G (p.Met1732Val)
|
rs752065261
|
0.00001
|
NM_000038.6(APC):c.5302A>G (p.Lys1768Glu)
|
rs199630012
|
0.00001
|
NM_000038.6(APC):c.5304G>A (p.Lys1768=)
|
rs863224285
|
0.00001
|
NM_000038.6(APC):c.5573G>A (p.Arg1858Gln)
|
rs369831474
|
0.00001
|
NM_000038.6(APC):c.5901C>T (p.Ser1967=)
|
rs1561603572
|
0.00001
|
NM_000038.6(APC):c.646C>T (p.Arg216Ter)
|
rs62619935
|
0.00001
|
NM_000038.6(APC):c.7377T>C (p.Ser2459=)
|
rs775573115
|
0.00001
|
NM_000038.6(APC):c.7508G>A (p.Gly2503Glu)
|
rs750111908
|
0.00001
|
NM_000038.6(APC):c.7525C>T (p.Pro2509Ser)
|
rs1473460192
|
0.00001
|
NM_000038.6(APC):c.775C>T (p.Arg259Trp)
|
rs762117133
|
0.00001
|
NM_000038.6(APC):c.8416C>G (p.Pro2806Ala)
|
rs587780608
|
0.00001
|
NM_000038.6(APC):c.993G>A (p.Ser331=)
|
rs148343173
|
0.00001
|
NM_000047.3(ARSL):c.1034G>A (p.Ser345Asn)
|
rs374606461
|
0.00001
|
NM_000051.4(ATM):c.1235G>A (p.Trp412Ter)
|
rs587779813
|
0.00001
|
NM_000051.4(ATM):c.127C>G (p.Leu43Val)
|
rs772591447
|
0.00001
|
NM_000051.4(ATM):c.1303T>C (p.Leu435=)
|
rs748469311
|
0.00001
|
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln)
|
rs202173660
|
0.00001
|
NM_000051.4(ATM):c.1487G>A (p.Ser496Asn)
|
rs778890679
|
0.00001
|
NM_000051.4(ATM):c.1648A>G (p.Ile550Val)
|
rs202144949
|
0.00001
|
NM_000051.4(ATM):c.1726A>G (p.Ile576Val)
|
rs1064795170
|
0.00001
|
NM_000051.4(ATM):c.1899-10T>G
|
rs763685190
|
0.00001
|
NM_000051.4(ATM):c.1960C>A (p.Gln654Lys)
|
rs528165789
|
0.00001
|
NM_000051.4(ATM):c.2260C>A (p.Gln754Lys)
|
rs3205809
|
0.00001
|
NM_000051.4(ATM):c.2467-7C>T
|
rs768850329
|
0.00001
|
NM_000051.4(ATM):c.2474T>G (p.Phe825Cys)
|
rs1060501648
|
0.00001
|
NM_000051.4(ATM):c.2532A>G (p.Gly844=)
|
rs755261743
|
0.00001
|
NM_000051.4(ATM):c.2630G>C (p.Ser877Thr)
|
rs370269552
|
0.00001
|
NM_000051.4(ATM):c.2867G>A (p.Gly956Glu)
|
rs752099312
|
0.00001
|
NM_000051.4(ATM):c.3291C>G (p.Phe1097Leu)
|
rs876658491
|
0.00001
|
NM_000051.4(ATM):c.3549T>C (p.Asn1183=)
|
rs767377764
|
0.00001
|
NM_000051.4(ATM):c.372C>A (p.Ile124=)
|
rs773495195
|
0.00001
|
NM_000051.4(ATM):c.3746+12C>A
|
rs768841674
|
0.00001
|
NM_000051.4(ATM):c.4032G>C (p.Val1344=)
|
rs769871715
|
0.00001
|
NM_000051.4(ATM):c.4091A>G (p.Asp1364Gly)
|
rs751169467
|
0.00001
|
NM_000051.4(ATM):c.4109+4T>C
|
rs754706599
|
0.00001
|
NM_000051.4(ATM):c.4110-4T>C
|
rs777186156
|
0.00001
|
NM_000051.4(ATM):c.4703A>G (p.His1568Arg)
|
rs368830730
|
0.00001
|
NM_000051.4(ATM):c.478T>C (p.Ser160Pro)
|
rs761170769
|
0.00001
|
NM_000051.4(ATM):c.4916C>T (p.Pro1639Leu)
|
rs752459491
|
0.00001
|
NM_000051.4(ATM):c.5056A>G (p.Ile1686Val)
|
rs145453814
|
0.00001
|
NM_000051.4(ATM):c.5262G>T (p.Lys1754Asn)
|
rs748900588
|
0.00001
|
NM_000051.4(ATM):c.5375T>C (p.Ile1792Thr)
|
rs776309355
|
0.00001
|
NM_000051.4(ATM):c.5488A>G (p.Met1830Val)
|
rs587781622
|
0.00001
|
NM_000051.4(ATM):c.5630T>C (p.Phe1877Ser)
|
rs202028401
|
0.00001
|
NM_000051.4(ATM):c.5658T>C (p.Pro1886=)
|
rs940182945
|
0.00001
|
NM_000051.4(ATM):c.5693G>A (p.Arg1898Gln)
|
rs370680798
|
0.00001
|
NM_000051.4(ATM):c.5747T>C (p.Met1916Thr)
|
rs1060501557
|
0.00001
|
NM_000051.4(ATM):c.591A>T (p.Gly197=)
|
rs587780630
|
0.00001
|
NM_000051.4(ATM):c.5964C>T (p.Ser1988=)
|
rs774260725
|
0.00001
|
NM_000051.4(ATM):c.6006+13G>C
|
rs368207631
|
0.00001
|
NM_000051.4(ATM):c.6096-3T>C
|
rs748380897
|
0.00001
|
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys)
|
rs202206540
|
0.00001
|
NM_000051.4(ATM):c.6199-6G>A
|
rs1555114529
|
0.00001
|
NM_000051.4(ATM):c.6500A>G (p.Tyr2167Cys)
|
rs768155385
|
0.00001
|
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys)
|
rs564652222
|
0.00001
|
NM_000051.4(ATM):c.6925C>T (p.Leu2309=)
|
rs763839047
|
0.00001
|
NM_000051.4(ATM):c.7399G>A (p.Val2467Ile)
|
rs769722643
|
0.00001
|
NM_000051.4(ATM):c.7502A>G (p.Asn2501Ser)
|
rs531617441
|
0.00001
|
NM_000051.4(ATM):c.7996A>G (p.Thr2666Ala)
|
rs745775382
|
0.00001
|
NM_000051.4(ATM):c.8000T>C (p.Met2667Thr)
|
rs1060501566
|
0.00001
|
NM_000051.4(ATM):c.8047A>G (p.Ile2683Val)
|
rs587781344
|
0.00001
|
NM_000051.4(ATM):c.811C>A (p.Leu271Ile)
|
rs730881339
|
0.00001
|
NM_000051.4(ATM):c.8265T>C (p.Tyr2755=)
|
rs758654836
|
0.00001
|
NM_000051.4(ATM):c.8266A>T (p.Lys2756Ter)
|
rs371638537
|
0.00001
|
NM_000051.4(ATM):c.8268+13A>T
|
rs1400036072
|
0.00001
|
NM_000051.4(ATM):c.8566G>A (p.Val2856Ile)
|
rs777648248
|
0.00001
|
NM_000051.4(ATM):c.8730C>G (p.Leu2910=)
|
rs551041839
|
0.00001
|
NM_000051.4(ATM):c.876G>A (p.Pro292=)
|
rs755860432
|
0.00001
|
NM_000051.4(ATM):c.8965C>G (p.Gln2989Glu)
|
rs147695170
|
0.00001
|
NM_000051.4(ATM):c.8987+3G>A
|
rs56360226
|
0.00001
|
NM_000051.4(ATM):c.94C>T (p.Arg32Cys)
|
rs148061139
|
0.00001
|
NM_000059.4(BRCA2):c.10111A>G (p.Thr3371Ala)
|
rs80358393
|
0.00001
|
NM_000059.4(BRCA2):c.1144A>C (p.Lys382Gln)
|
rs371454630
|
0.00001
|
NM_000059.4(BRCA2):c.1244A>G (p.His415Arg)
|
rs80358417
|
0.00001
|
NM_000059.4(BRCA2):c.1397A>G (p.Asn466Ser)
|
rs370692951
|
0.00001
|
NM_000059.4(BRCA2):c.1441A>G (p.Ile481Val)
|
rs760559435
|
0.00001
|
NM_000059.4(BRCA2):c.1466C>G (p.Ser489Cys)
|
rs587782535
|
0.00001
|
NM_000059.4(BRCA2):c.1810A>G (p.Lys604Glu)
|
rs80358467
|
0.00001
|
NM_000059.4(BRCA2):c.1818G>A (p.Pro606=)
|
rs76844014
|
0.00001
|
NM_000059.4(BRCA2):c.2004G>A (p.Arg668=)
|
rs755049218
|
0.00001
|
NM_000059.4(BRCA2):c.2082T>C (p.Asn694=)
|
rs777141329
|
0.00001
|
NM_000059.4(BRCA2):c.2127G>C (p.Leu709=)
|
rs554040246
|
0.00001
|
NM_000059.4(BRCA2):c.2287C>G (p.His763Asp)
|
rs863224585
|
0.00001
|
NM_000059.4(BRCA2):c.2330A>G (p.Asp777Gly)
|
rs780489283
|
0.00001
|
NM_000059.4(BRCA2):c.2366A>G (p.Lys789Arg)
|
rs587782062
|
0.00001
|
NM_000059.4(BRCA2):c.2416G>C (p.Asp806His)
|
rs56404215
|
0.00001
|
NM_000059.4(BRCA2):c.2428A>G (p.Thr810Ala)
|
rs80358508
|
0.00001
|
NM_000059.4(BRCA2):c.2444T>C (p.Met815Thr)
|
rs1303254121
|
0.00001
|
NM_000059.4(BRCA2):c.2461G>A (p.Val821Ile)
|
rs756411508
|
0.00001
|
NM_000059.4(BRCA2):c.2612C>A (p.Ser871Ter)
|
rs397507634
|
0.00001
|
NM_000059.4(BRCA2):c.2751A>G (p.Val917=)
|
rs765644162
|
0.00001
|
NM_000059.4(BRCA2):c.2817C>T (p.Thr939=)
|
rs367921107
|
0.00001
|
NM_000059.4(BRCA2):c.2830A>T (p.Lys944Ter)
|
rs80358533
|
0.00001
|
NM_000059.4(BRCA2):c.2908G>A (p.Asp970Asn)
|
rs397507295
|
0.00001
|
NM_000059.4(BRCA2):c.2920G>A (p.Asp974Asn)
|
rs539613324
|
0.00001
|
NM_000059.4(BRCA2):c.2946A>G (p.Ile982Met)
|
rs80358541
|
0.00001
|
NM_000059.4(BRCA2):c.2949A>G (p.Pro983=)
|
rs762378787
|
0.00001
|
NM_000059.4(BRCA2):c.2957_2958insG (p.Asn986fs)
|
rs1555282969
|
0.00001
|
NM_000059.4(BRCA2):c.3188A>G (p.Gln1063Arg)
|
rs775030825
|
0.00001
|
NM_000059.4(BRCA2):c.3227T>C (p.Val1076Ala)
|
rs1060502498
|
0.00001
|
NM_000059.4(BRCA2):c.3309A>G (p.Leu1103=)
|
rs786203980
|
0.00001
|
NM_000059.4(BRCA2):c.3451A>G (p.Ile1151Val)
|
rs80358591
|
0.00001
|
NM_000059.4(BRCA2):c.3672C>T (p.Gly1224=)
|
rs587780650
|
0.00001
|
NM_000059.4(BRCA2):c.3717A>G (p.Lys1239=)
|
rs141196976
|
0.00001
|
NM_000059.4(BRCA2):c.3767A>C (p.His1256Pro)
|
rs80358618
|
0.00001
|
NM_000059.4(BRCA2):c.3785C>G (p.Ser1262Ter)
|
rs80358620
|
0.00001
|
NM_000059.4(BRCA2):c.3814A>G (p.Met1272Val)
|
rs80358624
|
0.00001
|
NM_000059.4(BRCA2):c.4183G>T (p.Ala1395Ser)
|
rs431825318
|
0.00001
|
NM_000059.4(BRCA2):c.4277C>T (p.Thr1426Ile)
|
rs748591104
|
0.00001
|
NM_000059.4(BRCA2):c.4319A>G (p.Lys1440Arg)
|
rs80358669
|
0.00001
|
NM_000059.4(BRCA2):c.441A>G (p.Gln147=)
|
rs80358676
|
0.00001
|
NM_000059.4(BRCA2):c.4436G>C (p.Ser1479Thr)
|
rs80358678
|
0.00001
|
NM_000059.4(BRCA2):c.4535G>A (p.Arg1512His)
|
rs80358685
|
0.00001
|
NM_000059.4(BRCA2):c.4552del (p.Glu1518fs)
|
rs398122783
|
0.00001
|
NM_000059.4(BRCA2):c.4574A>C (p.His1525Pro)
|
rs397507336
|
0.00001
|
NM_000059.4(BRCA2):c.4599A>C (p.Lys1533Asn)
|
rs80358694
|
0.00001
|
NM_000059.4(BRCA2):c.4691dup (p.Thr1566fs)
|
rs786204209
|
0.00001
|
NM_000059.4(BRCA2):c.4716C>G (p.Ala1572=)
|
rs1057521370
|
0.00001
|
NM_000059.4(BRCA2):c.4796A>G (p.Asn1599Ser)
|
rs149759218
|
0.00001
|
NM_000059.4(BRCA2):c.4918C>T (p.His1640Tyr)
|
rs765892492
|
0.00001
|
NM_000059.4(BRCA2):c.4968A>G (p.Thr1656=)
|
rs1060504597
|
0.00001
|
NM_000059.4(BRCA2):c.5120C>T (p.Thr1707Ile)
|
rs786202354
|
0.00001
|
NM_000059.4(BRCA2):c.5153A>G (p.Asn1718Ser)
|
rs80358739
|
0.00001
|
NM_000059.4(BRCA2):c.5278T>G (p.Ser1760Ala)
|
rs28897735
|
0.00001
|
NM_000059.4(BRCA2):c.5286T>G (p.Tyr1762Ter)
|
rs80358754
|
0.00001
|
NM_000059.4(BRCA2):c.5344C>A (p.Gln1782Lys)
|
rs80358757
|
0.00001
|
NM_000059.4(BRCA2):c.5390C>G (p.Ala1797Gly)
|
rs80358760
|
0.00001
|
NM_000059.4(BRCA2):c.5487G>T (p.Leu1829Phe)
|
rs779967765
|
0.00001
|
NM_000059.4(BRCA2):c.5652T>C (p.Ile1884=)
|
rs766067138
|
0.00001
|
NM_000059.4(BRCA2):c.5683G>A (p.Glu1895Lys)
|
rs146351301
|
0.00001
|
NM_000059.4(BRCA2):c.5729A>T (p.Asn1910Ile)
|
rs276174863
|
0.00001
|
NM_000059.4(BRCA2):c.5745G>A (p.Thr1915=)
|
rs1799953
|
0.00001
|
NM_000059.4(BRCA2):c.5753A>G (p.His1918Arg)
|
rs80358804
|
0.00001
|
NM_000059.4(BRCA2):c.5857G>T (p.Glu1953Ter)
|
rs80358814
|
0.00001
|
NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter)
|
rs80358815
|
0.00001
|
NM_000059.4(BRCA2):c.5880T>C (p.Cys1960=)
|
rs368055906
|
0.00001
|
NM_000059.4(BRCA2):c.6065C>G (p.Ser2022Ter)
|
rs80358843
|
0.00001
|
NM_000059.4(BRCA2):c.6131G>T (p.Gly2044Val)
|
rs56191579
|
0.00001
|
NM_000059.4(BRCA2):c.6264T>C (p.Thr2088=)
|
rs750651726
|
0.00001
|
NM_000059.4(BRCA2):c.631+2T>G
|
rs81002899
|
0.00001
|
NM_000059.4(BRCA2):c.6443C>A (p.Ser2148Tyr)
|
rs80358880
|
0.00001
|
NM_000059.4(BRCA2):c.6458C>T (p.Pro2153Leu)
|
rs276174873
|
0.00001
|
NM_000059.4(BRCA2):c.6582T>C (p.Ile2194=)
|
rs1178835711
|
0.00001
|
NM_000059.4(BRCA2):c.68-17del
|
rs752172011
|
0.00001
|
NM_000059.4(BRCA2):c.6868T>C (p.Leu2290=)
|
rs876660341
|
0.00001
|
NM_000059.4(BRCA2):c.6875A>G (p.Glu2292Gly)
|
rs397507378
|
0.00001
|
NM_000059.4(BRCA2):c.6953G>A (p.Arg2318Gln)
|
rs80358921
|
0.00001
|
NM_000059.4(BRCA2):c.6986C>T (p.Pro2329Leu)
|
rs80358925
|
0.00001
|
NM_000059.4(BRCA2):c.7115C>G (p.Ser2372Ter)
|
rs80358943
|
0.00001
|
NM_000059.4(BRCA2):c.7232A>C (p.Lys2411Thr)
|
rs80358950
|
0.00001
|
NM_000059.4(BRCA2):c.7307A>T (p.Asn2436Ile)
|
rs80358955
|
0.00001
|
NM_000059.4(BRCA2):c.7436-4A>G
|
rs81002904
|
0.00001
|
NM_000059.4(BRCA2):c.7448G>A (p.Ser2483Asn)
|
rs80358967
|
0.00001
|
NM_000059.4(BRCA2):c.7463G>A (p.Arg2488Lys)
|
rs80358968
|
0.00001
|
NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter)
|
rs80358972
|
0.00001
|
NM_000059.4(BRCA2):c.7521A>G (p.Pro2507=)
|
rs759383358
|
0.00001
|
NM_000059.4(BRCA2):c.7558C>T (p.Arg2520Ter)
|
rs80358981
|
0.00001
|
NM_000059.4(BRCA2):c.7669G>A (p.Ala2557Thr)
|
rs876658624
|
0.00001
|
NM_000059.4(BRCA2):c.7757G>A (p.Trp2586Ter)
|
rs80359003
|
0.00001
|
NM_000059.4(BRCA2):c.7759C>T (p.Leu2587Phe)
|
rs56335340
|
0.00001
|
NM_000059.4(BRCA2):c.7878G>A (p.Trp2626Ter)
|
rs80359013
|
0.00001
|
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys)
|
rs80359013
|
0.00001
|
NM_000059.4(BRCA2):c.7916C>T (p.Pro2639Leu)
|
rs774723315
|
0.00001
|
NM_000059.4(BRCA2):c.7928C>G (p.Ala2643Gly)
|
rs80359018
|
0.00001
|
NM_000059.4(BRCA2):c.793+1G>A
|
rs81002846
|
0.00001
|
NM_000059.4(BRCA2):c.793+6T>C
|
rs1222477192
|
0.00001
|
NM_000059.4(BRCA2):c.7971A>C (p.Lys2657Asn)
|
rs863224312
|
0.00001
|
NM_000059.4(BRCA2):c.7992T>A (p.Ile2664=)
|
rs80359800
|
0.00001
|
NM_000059.4(BRCA2):c.79A>G (p.Ile27Val)
|
rs80359034
|
0.00001
|
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu)
|
rs80359035
|
0.00001
|
NM_000059.4(BRCA2):c.8014A>G (p.Ile2672Val)
|
rs80359037
|
0.00001
|
NM_000059.4(BRCA2):c.8045C>T (p.Ala2682Val)
|
rs773506092
|
0.00001
|
NM_000059.4(BRCA2):c.8061T>C (p.Val2687=)
|
rs776992904
|
0.00001
|
NM_000059.4(BRCA2):c.8124T>G (p.Thr2708=)
|
rs587780662
|
0.00001
|
NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His)
|
rs41293511
|
0.00001
|
NM_000059.4(BRCA2):c.8243G>A (p.Gly2748Asp)
|
rs80359071
|
0.00001
|
NM_000059.4(BRCA2):c.8382C>G (p.Phe2794Leu)
|
rs80359084
|
0.00001
|
NM_000059.4(BRCA2):c.8428A>G (p.Ser2810Gly)
|
rs80359089
|
0.00001
|
NM_000059.4(BRCA2):c.8575del (p.Gln2859fs)
|
rs80359718
|
0.00001
|
NM_000059.4(BRCA2):c.8764A>G (p.Ser2922Gly)
|
rs80359132
|
0.00001
|
NM_000059.4(BRCA2):c.8765G>A (p.Ser2922Asn)
|
rs730881567
|
0.00001
|
NM_000059.4(BRCA2):c.8954-28T>G
|
rs1213906135
|
0.00001
|
NM_000059.4(BRCA2):c.8997G>A (p.Leu2999=)
|
rs80359804
|
0.00001
|
NM_000059.4(BRCA2):c.9076C>G (p.Gln3026Glu)
|
rs80359159
|
0.00001
|
NM_000059.4(BRCA2):c.909T>G (p.Ser303=)
|
rs757430441
|
0.00001
|
NM_000059.4(BRCA2):c.9101A>G (p.Gln3034Arg)
|
rs80359164
|
0.00001
|
NM_000059.4(BRCA2):c.9154C>T (p.Arg3052Trp)
|
rs45580035
|
0.00001
|
NM_000059.4(BRCA2):c.9249A>T (p.Lys3083Asn)
|
rs80359191
|
0.00001
|
NM_000059.4(BRCA2):c.9256+54T>A
|
rs1555288597
|
0.00001
|
NM_000059.4(BRCA2):c.927A>G (p.Ser309=)
|
rs80359806
|
0.00001
|
NM_000059.4(BRCA2):c.9338T>C (p.Ile3113Thr)
|
rs770003991
|
0.00001
|
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile)
|
rs28897759
|
0.00001
|
NM_000059.4(BRCA2):c.9396A>G (p.Lys3132=)
|
rs201172050
|
0.00001
|
NM_000059.4(BRCA2):c.9433G>C (p.Val3145Leu)
|
rs587776476
|
0.00001
|
NM_000059.4(BRCA2):c.9501+16A>C
|
rs1555289626
|
0.00001
|
NM_000059.4(BRCA2):c.9509A>G (p.Asp3170Gly)
|
rs80359224
|
0.00001
|
NM_000059.4(BRCA2):c.9610A>G (p.Thr3204Ala)
|
rs80359231
|
0.00001
|
NM_000059.4(BRCA2):c.9613G>C (p.Ala3205Pro)
|
rs528504546
|
0.00001
|
NM_000059.4(BRCA2):c.9614C>T (p.Ala3205Val)
|
rs546682485
|
0.00001
|
NM_000059.4(BRCA2):c.964A>C (p.Lys322Gln)
|
rs11571640
|
0.00001
|
NM_000059.4(BRCA2):c.9672dup (p.Tyr3225fs)
|
rs80359773
|
0.00001
|
NM_000064.4(C3):c.3754G>A (p.Val1252Ile)
|
rs537300095
|
0.00001
|
NM_000069.3(CACNA1S):c.4546G>C (p.Asp1516His)
|
rs764330337
|
0.00001
|
NM_000075.4(CDK4):c.689T>C (p.Ile230Thr)
|
rs760435132
|
0.00001
|
NM_000077.5(CDKN2A):c.415G>C (p.Gly139Arg)
|
rs587781733
|
0.00001
|
NM_000094.4(COL7A1):c.3727C>T (p.Arg1243Trp)
|
rs1189017197
|
0.00001
|
NM_000094.4(COL7A1):c.5096C>T (p.Pro1699Leu)
|
rs121912845
|
0.00001
|
NM_000094.4(COL7A1):c.631G>A (p.Val211Ile)
|
rs557797952
|
0.00001
|
NM_000107.3(DDB2):c.218T>A (p.Leu73His)
|
rs199630230
|
0.00001
|
NM_000123.4(ERCC5):c.3025C>T (p.Arg1009Cys)
|
rs769849733
|
0.00001
|
NM_000125.4(ESR1):c.296C>A (p.Pro99Gln)
|
rs773500294
|
0.00001
|
NM_000132.4(F8):c.1835G>A (p.Arg612His)
|
rs782473762
|
0.00001
|
NM_000136.3(FANCC):c.-12G>A
|
rs779454514
|
0.00001
|
NM_000136.3(FANCC):c.1568T>C (p.Ile523Thr)
|
rs1554827151
|
0.00001
|
NM_000136.3(FANCC):c.1634A>G (p.Lys545Arg)
|
rs571668582
|
0.00001
|
NM_000136.3(FANCC):c.327A>G (p.Lys109=)
|
rs1399574459
|
0.00001
|
NM_000136.3(FANCC):c.472G>C (p.Ala158Pro)
|
rs372338418
|
0.00001
|
NM_000136.3(FANCC):c.510C>T (p.Asn170=)
|
rs777734585
|
0.00001
|
NM_000136.3(FANCC):c.650C>T (p.Pro217Leu)
|
rs730881714
|
0.00001
|
NM_000136.3(FANCC):c.792T>G (p.Ser264Arg)
|
rs730881717
|
0.00001
|
NM_000138.5(FBN1):c.1169C>T (p.Ser390Phe)
|
rs746385384
|
0.00001
|
NM_000138.5(FBN1):c.1391G>A (p.Arg464His)
|
rs1166727485
|
0.00001
|
NM_000153.4(GALC):c.287A>G (p.His96Arg)
|
rs748593957
|
0.00001
|
NM_000179.3(MSH6):c.*11T>C
|
rs757708396
|
0.00001
|
NM_000179.3(MSH6):c.-11C>A
|
rs1225209597
|
0.00001
|
NM_000179.3(MSH6):c.1133G>A (p.Arg378Lys)
|
rs587779205
|
0.00001
|
NM_000179.3(MSH6):c.1209C>G (p.Leu403=)
|
rs748603803
|
0.00001
|
NM_000179.3(MSH6):c.1277G>A (p.Cys426Tyr)
|
rs1207702287
|
0.00001
|
NM_000179.3(MSH6):c.1444C>T (p.Arg482Ter)
|
rs63750909
|
0.00001
|
NM_000179.3(MSH6):c.148T>C (p.Trp50Arg)
|
rs374597395
|
0.00001
|
NM_000179.3(MSH6):c.1612dup (p.Tyr538fs)
|
rs1230092559
|
0.00001
|
NM_000179.3(MSH6):c.1894A>G (p.Lys632Glu)
|
rs755847154
|
0.00001
|
NM_000179.3(MSH6):c.2025G>A (p.Glu675=)
|
rs587779223
|
0.00001
|
NM_000179.3(MSH6):c.2027A>G (p.Lys676Arg)
|
rs143643688
|
0.00001
|
NM_000179.3(MSH6):c.2057G>A (p.Gly686Asp)
|
rs587779227
|
0.00001
|
NM_000179.3(MSH6):c.2391C>T (p.Asp797=)
|
rs754870044
|
0.00001
|
NM_000179.3(MSH6):c.2504del (p.Gln835fs)
|
rs1572727440
|
0.00001
|
NM_000179.3(MSH6):c.2526T>G (p.Ala842=)
|
rs772394197
|
0.00001
|
NM_000179.3(MSH6):c.2731C>T (p.Arg911Ter)
|
rs63751017
|
0.00001
|
NM_000179.3(MSH6):c.2827G>T (p.Asp943Tyr)
|
rs143520357
|
0.00001
|
NM_000179.3(MSH6):c.2855T>C (p.Leu952Pro)
|
rs587781743
|
0.00001
|
NM_000179.3(MSH6):c.2885T>C (p.Ile962Thr)
|
rs778287080
|
0.00001
|
NM_000179.3(MSH6):c.2926C>T (p.Arg976Cys)
|
rs587782386
|
0.00001
|
NM_000179.3(MSH6):c.2949G>C (p.Glu983Asp)
|
rs780485157
|
0.00001
|
NM_000179.3(MSH6):c.3103C>T (p.Arg1035Ter)
|
rs63749999
|
0.00001
|
NM_000179.3(MSH6):c.3172+14C>T
|
rs762990595
|
0.00001
|
NM_000179.3(MSH6):c.3198T>C (p.Tyr1066=)
|
rs199643502
|
0.00001
|
NM_000179.3(MSH6):c.3255C>G (p.Thr1085=)
|
rs371568610
|
0.00001
|
NM_000179.3(MSH6):c.3294C>T (p.Cys1098=)
|
rs766341781
|
0.00001
|
NM_000179.3(MSH6):c.3438+2dup
|
rs1114167778
|
0.00001
|
NM_000179.3(MSH6):c.3439-15C>T
|
rs1305658142
|
0.00001
|
NM_000179.3(MSH6):c.3440C>T (p.Ala1147Val)
|
rs876659975
|
0.00001
|
NM_000179.3(MSH6):c.3514dup (p.Arg1172fs)
|
rs63751327
|
0.00001
|
NM_000179.3(MSH6):c.3625C>T (p.Leu1209=)
|
rs753675331
|
0.00001
|
NM_000179.3(MSH6):c.3841G>C (p.Glu1281Gln)
|
rs876659115
|
0.00001
|
NM_000179.3(MSH6):c.3879T>C (p.Ala1293=)
|
rs752369374
|
0.00001
|
NM_000179.3(MSH6):c.3939_3957dup (p.Ala1320delinsSerLysGlyThrTer)
|
rs63750767
|
0.00001
|
NM_000179.3(MSH6):c.4002-8A>C
|
rs778957100
|
0.00001
|
NM_000179.3(MSH6):c.4043A>C (p.Glu1348Ala)
|
rs1449733937
|
0.00001
|
NM_000179.3(MSH6):c.417A>G (p.Thr139=)
|
rs758390144
|
0.00001
|
NM_000179.3(MSH6):c.467C>G (p.Ser156Ter)
|
rs63749873
|
0.00001
|
NM_000179.3(MSH6):c.533G>A (p.Arg178His)
|
rs786204186
|
0.00001
|
NM_000179.3(MSH6):c.651dup (p.Lys218Ter)
|
rs63750955
|
0.00001
|
NM_000179.3(MSH6):c.667A>G (p.Asn223Asp)
|
rs374041375
|
0.00001
|
NM_000179.3(MSH6):c.668A>G (p.Asn223Ser)
|
rs587779316
|
0.00001
|
NM_000179.3(MSH6):c.958C>A (p.Pro320Thr)
|
rs754879198
|
0.00001
|
NM_000179.3(MSH6):c.979A>G (p.Thr327Ala)
|
rs730881814
|
0.00001
|
NM_000188.3(HK1):c.1174G>A (p.Ala392Thr)
|
rs140290094
|
0.00001
|
NM_000213.5(ITGB4):c.4558+381C>T
|
rs142258384
|
0.00001
|
NM_000243.3(MEFV):c.1513G>T (p.Asp505Tyr)
|
rs150730718
|
0.00001
|
NM_000249.4(MLH1):c.-11C>T
|
rs776898290
|
0.00001
|
NM_000249.4(MLH1):c.1103C>T (p.Ser368Leu)
|
rs201673334
|
0.00001
|
NM_000249.4(MLH1):c.1118G>A (p.Gly373Glu)
|
rs774878513
|
0.00001
|
NM_000249.4(MLH1):c.116+14C>G
|
rs773103242
|
0.00001
|
NM_000249.4(MLH1):c.1401C>T (p.Ser467=)
|
rs587778910
|
0.00001
|
NM_000249.4(MLH1):c.1460G>A (p.Arg487Gln)
|
rs587778917
|
0.00001
|
NM_000249.4(MLH1):c.1637A>G (p.Lys546Arg)
|
rs587779954
|
0.00001
|
NM_000249.4(MLH1):c.1652A>G (p.Asn551Ser)
|
rs63750271
|
0.00001
|
NM_000249.4(MLH1):c.1693A>T (p.Ile565Phe)
|
rs63750062
|
0.00001
|
NM_000249.4(MLH1):c.1989+12A>G
|
rs755976424
|
0.00001
|
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp)
|
rs63751275
|
0.00001
|
NM_000249.4(MLH1):c.207+1G>A
|
rs267607718
|
0.00001
|
NM_000249.4(MLH1):c.2103+6G>T
|
rs1057521607
|
0.00001
|
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala)
|
rs587778998
|
0.00001
|
NM_000249.4(MLH1):c.298C>T (p.Arg100Ter)
|
rs63751221
|
0.00001
|
NM_000249.4(MLH1):c.30G>T (p.Arg10=)
|
rs876660759
|
0.00001
|
NM_000249.4(MLH1):c.380+5A>G
|
rs1267759029
|
0.00001
|
NM_000249.4(MLH1):c.545+10A>C
|
rs781569222
|
0.00001
|
NM_000249.4(MLH1):c.650G>A (p.Arg217His)
|
rs762099920
|
0.00001
|
NM_000249.4(MLH1):c.885-5G>T
|
rs267607802
|
0.00001
|
NM_000249.4(MLH1):c.963_1014dup (p.Ser339fs)
|
rs1553648058
|
0.00001
|
NM_000251.3(MSH2):c.-8G>A
|
rs1064795641
|
0.00001
|
NM_000251.3(MSH2):c.123C>G (p.Asp41Glu)
|
rs761960690
|
0.00001
|
NM_000251.3(MSH2):c.1341C>G (p.Phe447Leu)
|
rs587781373
|
0.00001
|
NM_000251.3(MSH2):c.1379T>C (p.Met460Thr)
|
rs1553361303
|
0.00001
|
NM_000251.3(MSH2):c.1424A>T (p.Asp475Val)
|
rs1349765126
|
0.00001
|
NM_000251.3(MSH2):c.1582A>C (p.Lys528Gln)
|
rs199744440
|
0.00001
|
NM_000251.3(MSH2):c.159C>T (p.Ala53=)
|
rs780178752
|
0.00001
|
NM_000251.3(MSH2):c.1759+9A>C
|
rs994093288
|
0.00001
|
NM_000251.3(MSH2):c.1760-12A>G
|
rs774350590
|
0.00001
|
NM_000251.3(MSH2):c.1804C>G (p.Leu602Val)
|
rs748797209
|
0.00001
|
NM_000251.3(MSH2):c.1933C>G (p.Gln645Glu)
|
rs267607982
|
0.00001
|
NM_000251.3(MSH2):c.2111T>C (p.Ile704Thr)
|
rs564657106
|
0.00001
|
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter)
|
rs63750636
|
0.00001
|
NM_000251.3(MSH2):c.2132G>A (p.Arg711Gln)
|
rs138465383
|
0.00001
|
NM_000251.3(MSH2):c.2197G>A (p.Ala733Thr)
|
rs772662439
|
0.00001
|
NM_000251.3(MSH2):c.2595C>T (p.Ile865=)
|
rs547695133
|
0.00001
|
NM_000251.3(MSH2):c.2606C>A (p.Ala869Glu)
|
rs730881772
|
0.00001
|
NM_000251.3(MSH2):c.274C>G (p.Leu92Val)
|
rs587779154
|
0.00001
|
NM_000251.3(MSH2):c.446G>A (p.Gly149Asp)
|
rs587779162
|
0.00001
|
NM_000251.3(MSH2):c.63C>T (p.Arg21=)
|
rs1060504419
|
0.00001
|
NM_000251.3(MSH2):c.646-13T>C
|
rs761205332
|
0.00001
|
NM_000251.3(MSH2):c.728G>A (p.Arg243Gln)
|
rs63751455
|
0.00001
|
NM_000251.3(MSH2):c.803C>T (p.Ser268Leu)
|
rs563410947
|
0.00001
|
NM_000251.3(MSH2):c.972G>A (p.Gln324=)
|
rs63750505
|
0.00001
|
NM_000256.3(MYBPC3):c.1373G>A (p.Arg458His)
|
rs374255707
|
0.00001
|
NM_000257.4(MYH7):c.3865C>T (p.Arg1289Trp)
|
rs180824037
|
0.00001
|
NM_000264.5(PTCH1):c.3293T>C (p.Val1098Ala)
|
rs1291842090
|
0.00001
|
NM_000271.5(NPC1):c.1947+4A>G
|
rs577147812
|
0.00001
|
NM_000277.3(PAH):c.653G>T (p.Gly218Val)
|
rs62514933
|
0.00001
|
NM_000287.4(PEX6):c.1931G>A (p.Arg644Gln)
|
rs746117128
|
0.00001
|
NM_000295.5(SERPINA1):c.1157C>A (p.Pro386His)
|
rs569384943
|
0.00001
|
NM_000297.4(PKD2):c.1081C>T (p.Arg361Ter)
|
rs1578130676
|
0.00001
|
NM_000297.4(PKD2):c.1094+1G>A
|
rs58606740
|
0.00001
|
NM_000297.4(PKD2):c.1249C>T (p.Arg417Ter)
|
rs1324209174
|
0.00001
|
NM_000297.4(PKD2):c.1319+1G>A
|
rs1131692280
|
0.00001
|
NM_000297.4(PKD2):c.1548+9G>C
|
rs376901684
|
0.00001
|
NM_000297.4(PKD2):c.181C>T (p.Gln61Ter)
|
rs1355372474
|
0.00001
|
NM_000297.4(PKD2):c.1898+5G>A
|
rs1553926929
|
0.00001
|
NM_000297.4(PKD2):c.2020-14T>C
|
rs1164629640
|
0.00001
|
NM_000297.4(PKD2):c.2139C>T (p.Val713=)
|
rs200707583
|
0.00001
|
NM_000297.4(PKD2):c.2533C>T (p.Arg845Ter)
|
rs369678636
|
0.00001
|
NM_000297.4(PKD2):c.361G>T (p.Gly121Cys)
|
rs371898195
|
0.00001
|
NM_000297.4(PKD2):c.637C>T (p.Arg213Ter)
|
rs1302726543
|
0.00001
|
NM_000297.4(PKD2):c.710-10T>G
|
rs1727324181
|
0.00001
|
NM_000297.4(PKD2):c.711G>C (p.Leu237Phe)
|
rs781318662
|
0.00001
|
NM_000297.4(PKD2):c.843+6T>C
|
rs753371816
|
0.00001
|
NM_000297.4(PKD2):c.900G>C (p.Gln300His)
|
rs1394365736
|
0.00001
|
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp)
|
rs1553925453
|
0.00001
|
NM_000310.4(PPT1):c.695A>G (p.Asn232Ser)
|
rs768490419
|
0.00001
|
NM_000314.8(PTEN):c.114T>G (p.Pro38=)
|
rs748040144
|
0.00001
|
NM_000314.8(PTEN):c.210-12C>T
|
rs766570103
|
0.00001
|
NM_000314.8(PTEN):c.75G>A (p.Leu25=)
|
rs786201506
|
0.00001
|
NM_000336.3(SCNN1B):c.1313A>G (p.Glu438Gly)
|
rs749772908
|
0.00001
|
NM_000359.3(TGM1):c.1033G>A (p.Asp345Asn)
|
rs565588144
|
0.00001
|
NM_000359.3(TGM1):c.2102C>T (p.Ala701Val)
|
rs746902595
|
0.00001
|
NM_000368.5(TSC1):c.1097C>T (p.Pro366Leu)
|
rs763915012
|
0.00001
|
NM_000369.5(TSHR):c.1954C>G (p.Pro652Ala)
|
rs761428348
|
0.00001
|
NM_000375.3(UROS):c.327A>C (p.Lys109Asn)
|
rs369561042
|
0.00001
|
NM_000384.3(APOB):c.2141G>T (p.Ser714Ile)
|
rs779427901
|
0.00001
|
NM_000384.3(APOB):c.4049T>C (p.Val1350Ala)
|
rs767150815
|
0.00001
|
NM_000393.5(COL5A2):c.3071C>T (p.Ala1024Val)
|
rs763462242
|
0.00001
|
NM_000393.5(COL5A2):c.3317G>A (p.Arg1106Gln)
|
rs369725456
|
0.00001
|
NM_000396.4(CTSK):c.8G>A (p.Gly3Glu)
|
rs202055627
|
0.00001
|
NM_000400.4(ERCC2):c.1489C>T (p.Arg497Cys)
|
rs199738290
|
0.00001
|
NM_000416.3(IFNGR1):c.523del (p.Tyr175fs)
|
rs749956849
|
0.00001
|
NM_000426.4(LAMA2):c.8906G>A (p.Arg2969His)
|
rs748126149
|
0.00001
|
NM_000430.4(PAFAH1B1):c.1130A>G (p.Asn377Ser)
|
rs1167470350
|
0.00001
|
NM_000435.3(NOTCH3):c.5864C>T (p.Thr1955Ile)
|
rs574900839
|
0.00001
|
NM_000440.3(PDE6A):c.2254G>A (p.Val752Met)
|
rs536549575
|
0.00001
|
NM_000441.2(SLC26A4):c.1766A>C (p.Gln589Pro)
|
rs397516422
|
0.00001
|
NM_000444.6(PHEX):c.226C>G (p.Pro76Ala)
|
rs201394441
|
0.00001
|
NM_000448.3(RAG1):c.2291G>A (p.Arg764His)
|
rs768809293
|
0.00001
|
NM_000455.5(STK11):c.1012G>A (p.Val338Met)
|
rs587782302
|
0.00001
|
NM_000455.5(STK11):c.1101G>A (p.Thr367=)
|
rs750954647
|
0.00001
|
NM_000455.5(STK11):c.1107C>T (p.Pro369=)
|
rs376069854
|
0.00001
|
NM_000455.5(STK11):c.1145A>G (p.Gln382Arg)
|
rs985937027
|
0.00001
|
NM_000455.5(STK11):c.1148G>A (p.Arg383His)
|
rs730881990
|
0.00001
|
NM_000455.5(STK11):c.1150C>T (p.Arg384Trp)
|
rs752015385
|
0.00001
|
NM_000455.5(STK11):c.1151G>A (p.Arg384Gln)
|
rs371102112
|
0.00001
|
NM_000455.5(STK11):c.1189G>T (p.Ala397Ser)
|
rs587780008
|
0.00001
|
NM_000455.5(STK11):c.462C>T (p.His154=)
|
rs786201418
|
0.00001
|
NM_000455.5(STK11):c.465-10C>G
|
rs1060503780
|
0.00001
|
NM_000455.5(STK11):c.480G>T (p.Leu160=)
|
rs1176365465
|
0.00001
|
NM_000455.5(STK11):c.559G>A (p.Gly187Ser)
|
rs587782032
|
0.00001
|
NM_000455.5(STK11):c.621C>T (p.Asp207=)
|
rs569380138
|
0.00001
|
NM_000455.5(STK11):c.765C>T (p.Phe255=)
|
rs769912677
|
0.00001
|
NM_000455.5(STK11):c.817G>A (p.Ala273Thr)
|
rs587782199
|
0.00001
|
NM_000455.5(STK11):c.882G>A (p.Pro294=)
|
rs587781178
|
0.00001
|
NM_000455.5(STK11):c.921-8G>A
|
rs863224362
|
0.00001
|
NM_000455.5(STK11):c.976C>A (p.Pro326Thr)
|
rs771632414
|
0.00001
|
NM_000465.4(BARD1):c.1448A>G (p.His483Arg)
|
rs587781874
|
0.00001
|
NM_000465.4(BARD1):c.1497C>T (p.His499=)
|
rs760665188
|
0.00001
|
NM_000465.4(BARD1):c.1868G>A (p.Gly623Glu)
|
rs587782252
|
0.00001
|
NM_000465.4(BARD1):c.1883G>T (p.Cys628Phe)
|
rs1227794803
|
0.00001
|
NM_000465.4(BARD1):c.1904-10T>G
|
rs768259863
|
0.00001
|
NM_000465.4(BARD1):c.1904-12T>G
|
rs774178253
|
0.00001
|
NM_000465.4(BARD1):c.1963G>C (p.Glu655Gln)
|
rs786203772
|
0.00001
|
NM_000465.4(BARD1):c.2155A>G (p.Thr719Ala)
|
rs771852699
|
0.00001
|
NM_000465.4(BARD1):c.2253G>T (p.Arg751=)
|
rs750001065
|
0.00001
|
NM_000465.4(BARD1):c.2294A>G (p.Asp765Gly)
|
rs730881426
|
0.00001
|
NM_000465.4(BARD1):c.274A>T (p.Ile92Leu)
|
rs750878896
|
0.00001
|
NM_000465.4(BARD1):c.300A>G (p.Gln100=)
|
rs977731407
|
0.00001
|
NM_000465.4(BARD1):c.382C>T (p.Pro128Ser)
|
rs878854011
|
0.00001
|
NM_000465.4(BARD1):c.632T>C (p.Leu211Ser)
|
rs762171436
|
0.00001
|
NM_000465.4(BARD1):c.651A>G (p.Lys217=)
|
rs768866006
|
0.00001
|
NM_000465.4(BARD1):c.73G>C (p.Ala25Pro)
|
rs751646468
|
0.00001
|
NM_000465.4(BARD1):c.835T>C (p.Ser279Pro)
|
rs587781456
|
0.00001
|
NM_000465.4(BARD1):c.986C>G (p.Ser329Cys)
|
rs905626929
|
0.00001
|
NM_000466.3(PEX1):c.3074C>T (p.Pro1025Leu)
|
rs760252307
|
0.00001
|
NM_000501.4(ELN):c.1768G>A (p.Ala590Thr)
|
rs868932429
|
0.00001
|
NM_000520.6(HEXA):c.1264C>G (p.Leu422Val)
|
rs774562271
|
0.00001
|
NM_000524.4(HTR1A):c.275T>C (p.Met92Thr)
|
rs201953609
|
0.00001
|
NM_000534.5(PMS1):c.1075G>A (p.Val359Ile)
|
rs369839744
|
0.00001
|
NM_000535.7(PMS2):c.-13G>C
|
rs747488315
|
0.00001
|
NM_000535.7(PMS2):c.114G>A (p.Ala38=)
|
rs558032755
|
0.00001
|
NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter)
|
rs587778617
|
0.00001
|
NM_000535.7(PMS2):c.1360C>T (p.Leu454=)
|
rs1338448094
|
0.00001
|
NM_000535.7(PMS2):c.1630G>A (p.Asp544Asn)
|
rs876660139
|
0.00001
|
NM_000535.7(PMS2):c.1682A>C (p.Lys561Thr)
|
rs876658481
|
0.00001
|
NM_000535.7(PMS2):c.1723A>G (p.Asn575Asp)
|
rs142506484
|
0.00001
|
NM_000535.7(PMS2):c.1760G>A (p.Ser587Asn)
|
rs762100304
|
0.00001
|
NM_000535.7(PMS2):c.1798A>G (p.Met600Val)
|
rs1304634005
|
0.00001
|
NM_000535.7(PMS2):c.1952A>G (p.Lys651Arg)
|
rs267608167
|
0.00001
|
NM_000535.7(PMS2):c.1963G>A (p.Gly655Arg)
|
rs1064793236
|
0.00001
|
NM_000535.7(PMS2):c.2092G>C (p.Val698Leu)
|
rs751551006
|
0.00001
|
NM_000535.7(PMS2):c.2148C>T (p.Thr716=)
|
rs748404138
|
0.00001
|
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp)
|
rs587779337
|
0.00001
|
NM_000535.7(PMS2):c.2265C>T (p.Ile755=)
|
rs145646046
|
0.00001
|
NM_000535.7(PMS2):c.2335G>A (p.Gly779Arg)
|
rs587780053
|
0.00001
|
NM_000535.7(PMS2):c.2386G>A (p.Val796Ile)
|
rs368737800
|
0.00001
|
NM_000535.7(PMS2):c.251-2A>T
|
rs587779340
|
0.00001
|
NM_000535.7(PMS2):c.480G>A (p.Gln160=)
|
rs1426242773
|
0.00001
|
NM_000535.7(PMS2):c.496C>T (p.Leu166=)
|
rs876659249
|
0.00001
|
NM_000535.7(PMS2):c.538-1G>C
|
rs988423880
|
0.00001
|
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro)
|
rs587779342
|
0.00001
|
NM_000535.7(PMS2):c.943C>T (p.Arg315Ter)
|
rs200640585
|
0.00001
|
NM_000540.3(RYR1):c.13142C>G (p.Ala4381Gly)
|
rs794727983
|
0.00001
|
NM_000543.5(SMPD1):c.83C>T (p.Pro28Leu)
|
rs556155962
|
0.00001
|
NM_000546.6(TP53):c.245C>T (p.Pro82Leu)
|
rs534447939
|
0.00001
|
NM_000546.6(TP53):c.328C>T (p.Arg110Cys)
|
rs587781371
|
0.00001
|
NM_000546.6(TP53):c.472C>T (p.Arg158Cys)
|
rs587780068
|
0.00001
|
NM_000546.6(TP53):c.524G>A (p.Arg175His)
|
rs28934578
|
0.00001
|
NM_000546.6(TP53):c.607G>A (p.Val203Met)
|
rs730882003
|
0.00001
|
NM_000546.6(TP53):c.673-9A>G
|
rs754628512
|
0.00001
|
NM_000546.6(TP53):c.733G>A (p.Gly245Ser)
|
rs28934575
|
0.00001
|
NM_000546.6(TP53):c.800G>A (p.Arg267Gln)
|
rs587780075
|
0.00001
|
NM_000546.6(TP53):c.891C>T (p.His297=)
|
rs750578863
|
0.00001
|
NM_000548.5(TSC2):c.1033C>T (p.Leu345Phe)
|
rs397515146
|
0.00001
|
NM_000548.5(TSC2):c.1678G>A (p.Val560Met)
|
rs141631268
|
0.00001
|
NM_000551.4(VHL):c.21C>A (p.Asn7Lys)
|
rs1060503561
|
0.00001
|
NM_000576.3(IL1B):c.28G>A (p.Glu10Lys)
|
rs376289593
|
0.00001
|
NM_000719.7(CACNA1C):c.1516T>G (p.Trp506Gly)
|
rs975289385
|
0.00001
|
NM_000751.3(CHRND):c.133G>A (p.Val45Met)
|
rs372310402
|
0.00001
|
NM_000781.3(CYP11A1):c.1294C>T (p.Pro432Ser)
|
rs748390637
|
0.00001
|
NM_000801.5(FKBP1A):c.13G>A (p.Val5Met)
|
rs764451945
|
0.00001
|
NM_000834.5(GRIN2B):c.2627C>T (p.Ala876Val)
|
rs1458368988
|
0.00001
|
NM_000836.4(GRIN2D):c.460C>A (p.Pro154Thr)
|
rs957638664
|
0.00001
|
NM_000875.5(IGF1R):c.3932C>T (p.Ser1311Leu)
|
rs771642071
|
0.00001
|
NM_001005373.4(LRSAM1):c.1094G>A (p.Arg365Lys)
|
rs1381062773
|
0.00001
|
NM_001005373.4(LRSAM1):c.2146C>T (p.Arg716Cys)
|
rs772786050
|
0.00001
|
NM_001008388.5(CISD2):c.*79C>A
|
rs878941586
|
0.00001
|
NM_001009944.3(PKD1):c.10001A>G (p.Tyr3334Cys)
|
rs1287231217
|
0.00001
|
NM_001009944.3(PKD1):c.10303C>T (p.Arg3435Trp)
|
rs562831339
|
0.00001
|
NM_001009944.3(PKD1):c.10536G>A (p.Ala3512=)
|
rs1265357275
|
0.00001
|
NM_001009944.3(PKD1):c.10726G>A (p.Val3576Met)
|
rs1483830437
|
0.00001
|
NM_001009944.3(PKD1):c.11292C>A (p.Gly3764=)
|
rs553713361
|
0.00001
|
NM_001009944.3(PKD1):c.1198C>T (p.Arg400Ter)
|
rs774453006
|
0.00001
|
NM_001009944.3(PKD1):c.1643C>T (p.Ala548Val)
|
rs768613812
|
0.00001
|
NM_001009944.3(PKD1):c.167T>C (p.Leu56Pro)
|
rs2092940195
|
0.00001
|
NM_001009944.3(PKD1):c.2173G>A (p.Ala725Thr)
|
rs773053314
|
0.00001
|
NM_001009944.3(PKD1):c.2200G>A (p.Gly734Ser)
|
rs1311664031
|
0.00001
|
NM_001009944.3(PKD1):c.2849T>C (p.Leu950Pro)
|
rs2369063
|
0.00001
|
NM_001009944.3(PKD1):c.2882C>T (p.Ser961Leu)
|
rs1409614100
|
0.00001
|
NM_001009944.3(PKD1):c.3080T>G (p.Val1027Gly)
|
rs377725958
|
0.00001
|
NM_001009944.3(PKD1):c.3242C>T (p.Ser1081Leu)
|
rs377441860
|
0.00001
|
NM_001009944.3(PKD1):c.3873C>G (p.Val1291=)
|
rs753464188
|
0.00001
|
NM_001009944.3(PKD1):c.3920C>T (p.Thr1307Met)
|
rs527659927
|
0.00001
|
NM_001009944.3(PKD1):c.4014C>T (p.Thr1338=)
|
rs577199866
|
0.00001
|
NM_001009944.3(PKD1):c.4221G>A (p.Pro1407=)
|
rs776410570
|
0.00001
|
NM_001009944.3(PKD1):c.429G>A (p.Gln143=)
|
rs765295197
|
0.00001
|
NM_001009944.3(PKD1):c.4736G>C (p.Arg1579Pro)
|
rs541777274
|
0.00001
|
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs)
|
rs1555455457
|
0.00001
|
NM_001009944.3(PKD1):c.5297T>G (p.Phe1766Cys)
|
rs767720073
|
0.00001
|
NM_001009944.3(PKD1):c.5559C>T (p.Thr1853=)
|
rs752107118
|
0.00001
|
NM_001009944.3(PKD1):c.5979A>G (p.Thr1993=)
|
rs756636397
|
0.00001
|
NM_001009944.3(PKD1):c.6195C>T (p.Ala2065=)
|
rs770590637
|
0.00001
|
NM_001009944.3(PKD1):c.6450G>A (p.Glu2150=)
|
rs1257734818
|
0.00001
|
NM_001009944.3(PKD1):c.6527G>A (p.Arg2176His)
|
rs777123546
|
0.00001
|
NM_001009944.3(PKD1):c.7284C>T (p.Gly2428=)
|
rs1177672366
|
0.00001
|
NM_001009944.3(PKD1):c.7810G>A (p.Asp2604Asn)
|
rs778565182
|
0.00001
|
NM_001009944.3(PKD1):c.8017-2_8017-1del
|
rs1567180636
|
0.00001
|
NM_001009944.3(PKD1):c.8043C>G (p.Arg2681=)
|
rs1040303746
|
0.00001
|
NM_001009944.3(PKD1):c.8049C>T (p.Cys2683=)
|
rs377029031
|
0.00001
|
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys)
|
rs1057518897
|
0.00001
|
NM_001009944.3(PKD1):c.8497C>T (p.Pro2833Ser)
|
rs1057523051
|
0.00001
|
NM_001009944.3(PKD1):c.8504C>T (p.Pro2835Leu)
|
rs2575317
|
0.00001
|
NM_001009944.3(PKD1):c.8688C>T (p.Ser2896=)
|
rs548736542
|
0.00001
|
NM_001009944.3(PKD1):c.9534C>T (p.Ser3178=)
|
rs374200345
|
0.00001
|
NM_001009944.3(PKD1):c.9885C>T (p.Asn3295=)
|
rs764028566
|
0.00001
|
NM_001018113.3(FANCB):c.2098T>C (p.Phe700Leu)
|
rs1232355920
|
0.00001
|
NM_001018115.3(FANCD2):c.4281+69G>A
|
rs754606069
|
0.00001
|
NM_001035.3(RYR2):c.3037C>T (p.Arg1013Trp)
|
rs777740439
|
0.00001
|
NM_001039591.3(USP9X):c.3382A>T (p.Ser1128Cys)
|
rs1274391019
|
0.00001
|
NM_001040108.2(MLH3):c.2344C>G (p.Leu782Val)
|
rs772267556
|
0.00001
|
NM_001042681.2(RERE):c.3847C>T (p.Pro1283Ser)
|
rs778692247
|
0.00001
|
NM_001048174.2(MUTYH):c.1031C>G (p.Ser344Cys)
|
rs763862261
|
0.00001
|
NM_001048174.2(MUTYH):c.1087C>T (p.Gln363Ter)
|
rs587783057
|
0.00001
|
NM_001048174.2(MUTYH):c.1102+1G>A
|
rs587781337
|
0.00001
|
NM_001048174.2(MUTYH):c.1380C>T (p.Thr460=)
|
rs373973053
|
0.00001
|
NM_001048174.2(MUTYH):c.170A>G (p.His57Arg)
|
rs558707786
|
0.00001
|
NM_001048174.2(MUTYH):c.206G>A (p.Arg69Gln)
|
rs755653922
|
0.00001
|
NM_001048174.2(MUTYH):c.254G>A (p.Trp85Ter)
|
rs888691362
|
0.00001
|
NM_001048174.2(MUTYH):c.36C>T (p.His12=)
|
rs776396492
|
0.00001
|
NM_001048174.2(MUTYH):c.386C>T (p.Pro129Leu)
|
rs777184451
|
0.00001
|
NM_001048174.2(MUTYH):c.464G>A (p.Gly155Asp)
|
rs587781864
|
0.00001
|
NM_001048174.2(MUTYH):c.502G>T (p.Glu168Ter)
|
rs745921592
|
0.00001
|
NM_001048174.2(MUTYH):c.559G>A (p.Val187Met)
|
rs776487884
|
0.00001
|
NM_001048174.2(MUTYH):c.634G>A (p.Ala212Thr)
|
rs774237159
|
0.00001
|
NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu)
|
rs374950566
|
0.00001
|
NM_001079866.2(BCS1L):c.349C>T (p.Arg117Ter)
|
rs777735526
|
0.00001
|
NM_001080413.3(NOBOX):c.1546C>T (p.Pro516Ser)
|
rs531662858
|
0.00001
|
NM_001080413.3(NOBOX):c.1563G>C (p.Gln521His)
|
rs1009827355
|
0.00001
|
NM_001080414.4(CCDC88C):c.3904G>A (p.Glu1302Lys)
|
rs761146967
|
0.00001
|
NM_001082486.2(ACD):c.1117A>G (p.Lys373Glu)
|
rs1176289879
|
0.00001
|
NM_001098.3(ACO2):c.1550C>T (p.Thr517Met)
|
rs540169523
|
0.00001
|
NM_001098816.3(TENM4):c.6226A>G (p.Met2076Val)
|
rs776563835
|
0.00001
|
NM_001101362.3(KBTBD13):c.64C>G (p.Arg22Gly)
|
rs1193653136
|
0.00001
|
NM_001103.4(ACTN2):c.1552C>T (p.His518Tyr)
|
rs573836993
|
0.00001
|
NM_001104.4(ACTN3):c.1237T>C (p.Phe413Leu)
|
rs764415736
|
0.00001
|
NM_001105206.3(LAMA4):c.832T>C (p.Trp278Arg)
|
rs201486893
|
0.00001
|
NM_001109878.2(TBX22):c.898T>C (p.Trp300Arg)
|
rs371749262
|
0.00001
|
NM_001114134.2(EPB42):c.1278C>A (p.Asp426Glu)
|
rs766853529
|
0.00001
|
NM_001127255.2(NLRP7):c.854G>A (p.Ser285Asn)
|
rs749686883
|
0.00001
|
NM_001127898.4(CLCN5):c.152G>A (p.Arg51Gln)
|
rs1318459336
|
0.00001
|
NM_001128425.2(MUTYH):c.167G>A (p.Gly56Glu)
|
rs587781374
|
0.00001
|
NM_001128840.3(CACNA1D):c.5887G>A (p.Gly1963Ser)
|
rs769517898
|
0.00001
|
NM_001130823.3(DNMT1):c.694C>A (p.Pro232Thr)
|
rs374856119
|
0.00001
|
NM_001142556.2(HMMR):c.1128G>C (p.Glu376Asp)
|
rs145430537
|
0.00001
|
NM_001142800.2(EYS):c.583A>C (p.Ser195Arg)
|
rs753945993
|
0.00001
|
NM_001142864.4(PIEZO1):c.5295C>G (p.Asn1765Lys)
|
rs191843423
|
0.00001
|
NM_001142864.4(PIEZO1):c.645C>G (p.His215Gln)
|
rs559847737
|
0.00001
|
NM_001142966.3(GREB1L):c.1702T>C (p.Phe568Leu)
|
rs557226726
|
0.00001
|
NM_001145026.2(PTPRQ):c.5726C>T (p.Ser1909Phe)
|
rs1288542125
|
0.00001
|
NM_001145805.2(IRGM):c.397A>G (p.Thr133Ala)
|
rs1020311575
|
0.00001
|
NM_001145809.2(MYH14):c.1183G>A (p.Asp395Asn)
|
rs771031207
|
0.00001
|
NM_001146227.3(RPS20):c.410C>T (p.Pro137Leu)
|
rs542038027
|
0.00001
|
NM_001148.6(ANK2):c.8078C>T (p.Ser2693Phe)
|
rs1455581919
|
0.00001
|
NM_001164508.2(NEB):c.19489G>A (p.Val6497Ile)
|
rs777289377
|
0.00001
|
NM_001165963.4(SCN1A):c.1396G>A (p.Ala466Thr)
|
rs762652516
|
0.00001
|
NM_001165963.4(SCN1A):c.32C>A (p.Pro11His)
|
rs1350460260
|
0.00001
|
NM_001165963.4(SCN1A):c.3391G>A (p.Asp1131Asn)
|
rs372555722
|
0.00001
|
NM_001171613.2(PREPL):c.818T>C (p.Phe273Ser)
|
rs1347512792
|
0.00001
|
NM_001173464.2(KIF21A):c.758T>C (p.Ile253Thr)
|
rs749632095
|
0.00001
|
NM_001199107.2(TBC1D24):c.679C>T (p.Arg227Trp)
|
rs748302886
|
0.00001
|
NM_001205293.3(CACNA1E):c.6553C>T (p.Pro2185Ser)
|
rs548645440
|
0.00001
|
NM_001220.5(CAMK2B):c.1093G>A (p.Ala365Thr)
|
rs375397173
|
0.00001
|
NM_001244008.2(KIF1A):c.217G>T (p.Val73Leu)
|
rs770463399
|
0.00001
|
NM_001267550.2(TTN):c.22633C>T (p.Arg7545Ter)
|
rs764687326
|
0.00001
|
NM_001267550.2(TTN):c.45440G>A (p.Ser15147Asn)
|
rs369604317
|
0.00001
|
NM_001267550.2(TTN):c.613A>G (p.Lys205Glu)
|
rs763768455
|
0.00001
|
NM_001267550.2(TTN):c.83564C>T (p.Thr27855Ile)
|
rs1268315067
|
0.00001
|
NM_001267550.2(TTN):c.92752G>T (p.Asp30918Tyr)
|
rs781654770
|
0.00001
|
NM_001267550.2(TTN):c.98867T>C (p.Met32956Thr)
|
rs727504962
|
0.00001
|
NM_001270974.2(HYDIN):c.2750A>G (p.Asn917Ser)
|
rs779147589
|
0.00001
|
NM_001273.5(CHD4):c.4756A>G (p.Thr1586Ala)
|
rs1366977058
|
0.00001
|
NM_001276345.2(TNNT2):c.97G>T (p.Glu33Ter)
|
rs377474357
|
0.00001
|
NM_001278064.2(GRM1):c.1471C>T (p.Arg491Cys)
|
rs746603273
|
0.00001
|
NM_001282597.3(CTNNA2):c.377C>T (p.Ala126Val)
|
rs368392741
|
0.00001
|
NM_001282933.2(ZNF341):c.2390C>T (p.Pro797Leu)
|
rs376688156
|
0.00001
|
NM_001291867.2(NHS):c.281A>T (p.Glu94Val)
|
rs1433853793
|
0.00001
|
NM_001298.3(CNGA3):c.673G>A (p.Gly225Ser)
|
rs768061703
|
0.00001
|
NM_001302084.2(TOP6BL):c.-41G>C
|
rs1354765930
|
0.00001
|
NM_001304388.2(GOLGA6L2):c.1700G>A (p.Gly567Glu)
|
rs377626801
|
0.00001
|
NM_001308210.2(TSHZ1):c.1892C>T (p.Pro631Leu)
|
rs201765142
|
0.00001
|
NM_001337.4(CX3CR1):c.319G>A (p.Ala107Thr)
|
rs535968351
|
0.00001
|
NM_001347721.2(DYRK1A):c.154C>G (p.Gln52Glu)
|
rs1555977083
|
0.00001
|
NM_001354604.2(MITF):c.1031C>T (p.Pro344Leu)
|
rs756923654
|
0.00001
|
NM_001356.5(DDX3X):c.745G>A (p.Glu249Lys)
|
rs752738546
|
0.00001
|
NM_001365276.2(TNXB):c.3034G>A (p.Val1012Ile)
|
rs751045102
|
0.00001
|
NM_001365276.2(TNXB):c.6031G>A (p.Glu2011Lys)
|
rs1434254207
|
0.00001
|
NM_001365951.3(KIF1B):c.1751G>T (p.Arg584Leu)
|
rs1169892801
|
0.00001
|
NM_001366686.3(SIK3):c.2978C>T (p.Ser993Leu)
|
rs770197979
|
0.00001
|
NM_001367624.2(ZNF469):c.8009G>A (p.Ser2670Asn)
|
rs1403530482
|
0.00001
|
NM_001369.3(DNAH5):c.4747G>A (p.Ala1583Thr)
|
rs374072143
|
0.00001
|
NM_001370259.2(MEN1):c.349C>T (p.Leu117=)
|
rs1941984891
|
0.00001
|
NM_001370497.1(ABCC11):c.1166C>A (p.Thr389Asn)
|
rs369153671
|
0.00001
|
NM_001370497.1(ABCC11):c.1936C>T (p.Arg646Cys)
|
rs773385493
|
0.00001
|
NM_001370658.1(BTD):c.1379G>A (p.Gly460Glu)
|
rs558477960
|
0.00001
|
NM_001371928.1(AHDC1):c.1984G>A (p.Val662Met)
|
rs748212979
|
0.00001
|
NM_001372.4(DNAH9):c.10193G>A (p.Arg3398Gln)
|
rs763238622
|
0.00001
|
NM_001374353.1(GLI2):c.2657C>G (p.Thr886Ser)
|
rs572826436
|
0.00001
|
NM_001374385.1(ATP8B1):c.2854C>T (p.Arg952Ter)
|
rs765889649
|
0.00001
|
NM_001375462.1(LPP):c.808G>A (p.Gly270Ser)
|
rs1275870991
|
0.00001
|
NM_001378183.1(PIEZO2):c.716C>T (p.Pro239Leu)
|
rs776926434
|
0.00001
|
NM_001378609.3(OTOGL):c.3277A>C (p.Asn1093His)
|
rs867315415
|
0.00001
|
NM_001378615.1(CC2D2A):c.177C>T (p.Asn59=)
|
rs1001847837
|
0.00001
|
NM_001378615.1(CC2D2A):c.3495+5G>A
|
rs1470745200
|
0.00001
|
NM_001379081.2(FREM1):c.5186A>G (p.Asn1729Ser)
|
rs1211552660
|
0.00001
|
NM_001379081.2(FREM1):c.6037T>A (p.Cys2013Ser)
|
rs1420458990
|
0.00001
|
NM_001379286.1(ZNF423):c.1294G>A (p.Val432Met)
|
rs375353056
|
0.00001
|
NM_001382347.1(MYO5A):c.1144A>G (p.Thr382Ala)
|
rs375819705
|
0.00001
|
NM_001382347.1(MYO5A):c.2584C>T (p.Arg862Cys)
|
rs1212921365
|
0.00001
|
NM_001382347.1(MYO5A):c.2665A>G (p.Ile889Val)
|
rs750046342
|
0.00001
|
NM_001384474.1(LOXHD1):c.4529C>T (p.Thr1510Met)
|
rs1032563817
|
0.00001
|
NM_001386298.1(CIC):c.4450C>A (p.Pro1484Thr)
|
rs768052540
|
0.00001
|
NM_001386393.1(PANK2):c.953G>A (p.Cys318Tyr)
|
rs1012947103
|
0.00001
|
NM_001387283.1(SMARCA4):c.4193A>G (p.His1398Arg)
|
rs878854221
|
0.00001
|
NM_001387777.1(TNS1):c.2087A>G (p.His696Arg)
|
rs560954271
|
0.00001
|
NM_001388419.1(KALRN):c.6267+48A>G
|
rs769380451
|
0.00001
|
NM_001391906.1(EIF4G3):c.2827C>T (p.Arg943Trp)
|
rs141989247
|
0.00001
|
NM_001394062.1(MACF1):c.12983G>A (p.Arg4328Gln)
|
rs374060078
|
0.00001
|
NM_001395656.1(ROBO2):c.2578G>C (p.Val860Leu)
|
rs201250546
|
0.00001
|
NM_001430.5(EPAS1):c.1666C>G (p.Pro556Ala)
|
rs377300880
|
0.00001
|
NM_001447.3(FAT2):c.11330G>A (p.Arg3777Lys)
|
rs994473013
|
0.00001
|
NM_001451.3(FOXF1):c.886G>A (p.Ala296Thr)
|
rs767146795
|
0.00001
|
NM_001544.5(ICAM4):c.54G>A (p.Pro18=)
|
rs762283483
|
0.00001
|
NM_001711.6(BGN):c.504C>A (p.Asp168Glu)
|
rs1556993047
|
0.00001
|
NM_001753.5(CAV1):c.329C>T (p.Pro110Leu)
|
rs1203265205
|
0.00001
|
NM_001852.4(COL9A2):c.1082G>A (p.Gly361Glu)
|
rs1159293268
|
0.00001
|
NM_001904.4(CTNNB1):c.2157T>G (p.Phe719Leu)
|
rs1230378066
|
0.00001
|
NM_001963.6(EGF):c.*1990C>A
|
rs1391664617
|
0.00001
|
NM_001985.3(ETFB):c.58-260C>A
|
rs769799163
|
0.00001
|
NM_001999.4(FBN2):c.6414C>A (p.Asp2138Glu)
|
rs1449873424
|
0.00001
|
NM_002016.2(FLG):c.7243C>A (p.Leu2415Ile)
|
rs766035407
|
0.00001
|
NM_002335.4(LRP5):c.2051T>C (p.Val684Ala)
|
rs1339222045
|
0.00001
|
NM_002335.4(LRP5):c.283A>C (p.Thr95Pro)
|
rs771960523
|
0.00001
|
NM_002430.3(MN1):c.439C>A (p.Pro147Thr)
|
rs1449452450
|
0.00001
|
NM_002447.4(MST1R):c.2464C>G (p.Gln822Glu)
|
rs375573917
|
0.00001
|
NM_002458.3(MUC5B):c.15583G>A (p.Val5195Met)
|
rs569128267
|
0.00001
|
NM_002472.3(MYH8):c.2465G>A (p.Arg822His)
|
rs776002223
|
0.00001
|
NM_002472.3(MYH8):c.4543C>A (p.Leu1515Ile)
|
rs34564342
|
0.00001
|
NM_002473.6(MYH9):c.4391G>A (p.Arg1464His)
|
rs199968414
|
0.00001
|
NM_002485.5(NBN):c.1238A>G (p.Asn413Ser)
|
rs529340553
|
0.00001
|
NM_002485.5(NBN):c.1465C>G (p.Leu489Val)
|
rs143948240
|
0.00001
|
NM_002485.5(NBN):c.15G>C (p.Leu5=)
|
rs1363180098
|
0.00001
|
NM_002485.5(NBN):c.1754A>G (p.Glu585Gly)
|
rs763926389
|
0.00001
|
NM_002485.5(NBN):c.1912T>C (p.Ser638Pro)
|
rs199657566
|
0.00001
|
NM_002485.5(NBN):c.2196A>G (p.Gln732=)
|
rs587780780
|
0.00001
|
NM_002485.5(NBN):c.306T>C (p.Phe102=)
|
rs1554568276
|
0.00001
|
NM_002485.5(NBN):c.798G>A (p.Pro266=)
|
rs368786672
|
0.00001
|
NM_002485.5(NBN):c.938C>T (p.Ala313Val)
|
rs730881862
|
0.00001
|
NM_002637.4(PHKA1):c.3043C>T (p.Arg1015Cys)
|
rs782191011
|
0.00001
|
NM_002691.4(POLD1):c.1117A>G (p.Lys373Glu)
|
rs897166414
|
0.00001
|
NM_002691.4(POLD1):c.2327G>A (p.Arg776Gln)
|
rs141801845
|
0.00001
|
NM_002691.4(POLD1):c.2599G>A (p.Val867Ile)
|
rs367680864
|
0.00001
|
NM_002691.4(POLD1):c.2820+12C>T
|
rs567217817
|
0.00001
|
NM_002691.4(POLD1):c.46A>G (p.Lys16Glu)
|
rs765185645
|
0.00001
|
NM_002878.4(RAD51D):c.131G>A (p.Gly44Asp)
|
rs374730714
|
0.00001
|
NM_002878.4(RAD51D):c.144+3G>T
|
rs761057565
|
0.00001
|
NM_002878.4(RAD51D):c.27C>T (p.Cys9=)
|
rs200487648
|
0.00001
|
NM_002878.4(RAD51D):c.491T>C (p.Leu164Pro)
|
rs769287847
|
0.00001
|
NM_002878.4(RAD51D):c.716G>A (p.Arg239Gln)
|
rs780921112
|
0.00001
|
NM_002878.4(RAD51D):c.739-10T>C
|
rs199998187
|
0.00001
|
NM_002878.4(RAD51D):c.739-1G>A
|
rs1555567202
|
0.00001
|
NM_002878.4(RAD51D):c.772G>A (p.Gly258Arg)
|
rs181695922
|
0.00001
|
NM_002979.5(SCP2):c.572A>G (p.His191Arg)
|
rs372168791
|
0.00001
|
NM_003072.5(SMARCA4):c.1007C>T (p.Pro336Leu)
|
rs765058736
|
0.00001
|
NM_003107.3(SOX4):c.1075C>T (p.Arg359Cys)
|
rs1380808039
|
0.00001
|
NM_003119.4(SPG7):c.1247A>G (p.Lys416Arg)
|
rs1025013854
|
0.00001
|
NM_003126.4(SPTA1):c.1108T>C (p.Tyr370His)
|
rs1261923403
|
0.00001
|
NM_003227.4(TFR2):c.134C>T (p.Ala45Val)
|
rs769555821
|
0.00001
|
NM_003322.6(TULP1):c.1163C>A (p.Pro388Gln)
|
rs773239332
|
0.00001
|
NM_003380.5(VIM):c.1034G>A (p.Arg345His)
|
rs116370722
|
0.00001
|
NM_003383.5(VLDLR):c.1077A>C (p.Glu359Asp)
|
rs373013425
|
0.00001
|
NM_003399.6(XPNPEP2):c.274A>G (p.Ile92Val)
|
rs1195935972
|
0.00001
|
NM_003399.6(XPNPEP2):c.349T>C (p.Tyr117His)
|
rs1336537003
|
0.00001
|
NM_003590.5(CUL3):c.67-11876C>G
|
rs1463883315
|
0.00001
|
NM_003613.4(CILP):c.3338T>C (p.Val1113Ala)
|
rs779758505
|
0.00001
|
NM_003738.5(PTCH2):c.124G>T (p.Gly42Cys)
|
rs775263591
|
0.00001
|
NM_003738.5(PTCH2):c.1573C>T (p.Arg525Ter)
|
rs1342270028
|
0.00001
|
NM_003749.3(IRS2):c.2362C>G (p.Leu788Val)
|
rs777328184
|
0.00001
|
NM_003900.5(SQSTM1):c.73T>C (p.Phe25Leu)
|
rs1353365075
|
0.00001
|
NM_003900.5(SQSTM1):c.97G>T (p.Ala33Ser)
|
rs1156716975
|
0.00001
|
NM_004145.4(MYO9B):c.4148C>T (p.Ala1383Val)
|
rs576521081
|
0.00001
|
NM_004153.4(ORC1):c.688A>T (p.Thr230Ser)
|
rs1400311570
|
0.00001
|
NM_004168.4(SDHA):c.1367C>T (p.Ser456Leu)
|
rs76896145
|
0.00001
|
NM_004252.5(NHERF1):c.89G>A (p.Gly30Glu)
|
rs751217204
|
0.00001
|
NM_004260.4(RECQL4):c.1187C>T (p.Thr396Ile)
|
rs752564961
|
0.00001
|
NM_004260.4(RECQL4):c.1580C>G (p.Thr527Arg)
|
rs766354337
|
0.00001
|
NM_004304.5(ALK):c.1114G>A (p.Ala372Thr)
|
rs753549939
|
0.00001
|
NM_004304.5(ALK):c.1215A>T (p.Glu405Asp)
|
rs370235133
|
0.00001
|
NM_004304.5(ALK):c.140C>T (p.Ser47Leu)
|
rs541315214
|
0.00001
|
NM_004304.5(ALK):c.4658C>G (p.Ala1553Gly)
|
rs1553386898
|
0.00001
|
NM_004329.3(BMPR1A):c.1296C>T (p.Ser432=)
|
rs1060504907
|
0.00001
|
NM_004329.3(BMPR1A):c.430+12G>A
|
rs201530603
|
0.00001
|
NM_004329.3(BMPR1A):c.676-5T>C
|
rs200537780
|
0.00001
|
NM_004329.3(BMPR1A):c.751G>T (p.Gly251Cys)
|
rs750513716
|
0.00001
|
NM_004357.5(CD151):c.379A>C (p.Lys127Gln)
|
rs559057238
|
0.00001
|
NM_004360.5(CDH1):c.1009-13G>A
|
rs557444760
|
0.00001
|
NM_004360.5(CDH1):c.114G>C (p.Thr38=)
|
rs786201492
|
0.00001
|
NM_004360.5(CDH1):c.1266A>G (p.Gln422=)
|
rs776805501
|
0.00001
|
NM_004360.5(CDH1):c.1633C>T (p.Arg545Trp)
|
rs863224727
|
0.00001
|
NM_004360.5(CDH1):c.200C>A (p.Ala67Asp)
|
rs730881660
|
0.00001
|
NM_004360.5(CDH1):c.2046G>A (p.Glu682=)
|
rs753209043
|
0.00001
|
NM_004360.5(CDH1):c.2380G>A (p.Val794Ile)
|
rs587782466
|
0.00001
|
NM_004360.5(CDH1):c.2414A>G (p.Asp805Gly)
|
rs1481419710
|
0.00001
|
NM_004360.5(CDH1):c.2572G>C (p.Asp858His)
|
rs587782025
|
0.00001
|
NM_004360.5(CDH1):c.2638G>A (p.Glu880Lys)
|
rs34507583
|
0.00001
|
NM_004360.5(CDH1):c.322A>G (p.Arg108Gly)
|
rs587778172
|
0.00001
|
NM_004360.5(CDH1):c.369C>G (p.His123Gln)
|
rs778954591
|
0.00001
|
NM_004360.5(CDH1):c.546A>C (p.Lys182Asn)
|
rs201141645
|
0.00001
|
NM_004360.5(CDH1):c.574A>G (p.Ile192Val)
|
rs376102028
|
0.00001
|
NM_004360.5(CDH1):c.604G>A (p.Val202Ile)
|
rs546716073
|
0.00001
|
NM_004360.5(CDH1):c.879G>A (p.Val293=)
|
rs778959722
|
0.00001
|
NM_004369.4(COL6A3):c.5264C>T (p.Ser1755Leu)
|
rs764975992
|
0.00001
|
NM_004369.4(COL6A3):c.7744C>T (p.Leu2582Phe)
|
rs780850057
|
0.00001
|
NM_004380.3(CREBBP):c.1627C>G (p.Pro543Ala)
|
rs947001316
|
0.00001
|
NM_004385.5(VCAN):c.3337A>G (p.Lys1113Glu)
|
rs781031143
|
0.00001
|
NM_004415.4(DSP):c.8133G>T (p.Glu2711Asp)
|
rs375348086
|
0.00001
|
NM_004462.5(FDFT1):c.110G>A (p.Ser37Asn)
|
rs558707651
|
0.00001
|
NM_004473.4(FOXE1):c.118G>A (p.Ala40Thr)
|
rs752273041
|
0.00001
|
NM_004519.4(KCNQ3):c.2123G>T (p.Ser708Ile)
|
rs977989588
|
0.00001
|
NM_004519.4(KCNQ3):c.35C>T (p.Ala12Val)
|
rs796052672
|
0.00001
|
NM_004629.2(FANCG):c.1626G>C (p.Gln542His)
|
rs1060501867
|
0.00001
|
NM_004655.4(AXIN2):c.1772C>T (p.Ala591Val)
|
rs1439853340
|
0.00001
|
NM_004656.4(BAP1):c.1721C>T (p.Ala574Val)
|
rs761596789
|
0.00001
|
NM_004700.4(KCNQ4):c.1664C>T (p.Pro555Leu)
|
rs764622728
|
0.00001
|
NM_004738.5(VAPB):c.535G>A (p.Glu179Lys)
|
rs1989149258
|
0.00001
|
NM_004839.4(HOMER2):c.430G>A (p.Ala144Thr)
|
rs780027349
|
0.00001
|
NM_004958.4(MTOR):c.5473A>G (p.Ile1825Val)
|
rs748927495
|
0.00001
|
NM_004985.5(KRAS):c.34G>A (p.Gly12Ser)
|
rs121913530
|
0.00001
|
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp)
|
rs121913529
|
0.00001
|
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp)
|
rs112445441
|
0.00001
|
NM_005045.4(RELN):c.397G>A (p.Val133Met)
|
rs200611900
|
0.00001
|
NM_005085.4(NUP214):c.5044G>A (p.Ala1682Thr)
|
rs761448842
|
0.00001
|
NM_005236.3(ERCC4):c.1544G>A (p.Arg515His)
|
rs766111215
|
0.00001
|
NM_005245.4(FAT1):c.11410G>A (p.Glu3804Lys)
|
rs375766862
|
0.00001
|
NM_005245.4(FAT1):c.3097G>A (p.Val1033Met)
|
rs752785176
|
0.00001
|
NM_005245.4(FAT1):c.3300A>G (p.Glu1100=)
|
rs1181746133
|
0.00001
|
NM_005245.4(FAT1):c.4309A>G (p.Thr1437Ala)
|
rs1248088211
|
0.00001
|
NM_005269.3(GLI1):c.1921G>T (p.Asp641Tyr)
|
rs763500947
|
0.00001
|
NM_005357.4(LIPE):c.1051G>A (p.Ala351Thr)
|
rs574913478
|
0.00001
|
NM_005422.4(TECTA):c.3224T>C (p.Ile1075Thr)
|
rs764774939
|
0.00001
|
NM_005422.4(TECTA):c.3293C>T (p.Ala1098Val)
|
rs761524812
|
0.00001
|
NM_005422.4(TECTA):c.5114A>G (p.Tyr1705Cys)
|
rs886047844
|
0.00001
|
NM_005502.4(ABCA1):c.5131G>A (p.Val1711Ile)
|
rs377600690
|
0.00001
|
NM_005515.4(MNX1):c.1037G>T (p.Arg346Leu)
|
rs1805582230
|
0.00001
|
NM_005612.5(REST):c.2603C>T (p.Pro868Leu)
|
rs753496340
|
0.00001
|
NM_005612.5(REST):c.2680C>T (p.Leu894Phe)
|
rs748529871
|
0.00001
|
NM_005670.4(EPM2A):c.822C>T (p.Thr274=)
|
rs763812238
|
0.00001
|
NM_005816.5(CD96):c.500G>C (p.Ser167Thr)
|
rs532537422
|
0.00001
|
NM_005885.4(MARCHF6):c.2516C>T (p.Ala839Val)
|
rs201277006
|
0.00001
|
NM_005904.4(SMAD7):c.1062G>A (p.Thr354=)
|
rs780863704
|
0.00001
|
NM_005908.4(MANBA):c.1622G>A (p.Trp541Ter)
|
rs771865668
|
0.00001
|
NM_005921.2(MAP3K1):c.1015C>T (p.Arg339Trp)
|
rs373572109
|
0.00001
|
NM_006005.3(WFS1):c.2495G>A (p.Arg832His)
|
rs141816346
|
0.00001
|
NM_006031.6(PCNT):c.3179_3199dup (p.Leu1066_His1067insArgGluLysLysThrAlaLeu)
|
rs1363262432
|
0.00001
|
NM_006031.6(PCNT):c.3202G>T (p.Glu1068Ter)
|
rs1215854055
|
0.00001
|
NM_006180.6(NTRK2):c.1439G>A (p.Gly480Asp)
|
rs2075316738
|
0.00001
|
NM_006185.4(NUMA1):c.584A>G (p.Asn195Ser)
|
rs1310700421
|
0.00001
|
NM_006210.3(PEG3):c.1529G>A (p.Cys510Tyr)
|
rs753853974
|
0.00001
|
NM_006231.4(POLE):c.1298G>T (p.Gly433Val)
|
rs1465684132
|
0.00001
|
NM_006231.4(POLE):c.1795-13G>A
|
rs749522265
|
0.00001
|
NM_006231.4(POLE):c.4560C>G (p.Ser1520Arg)
|
rs2042187560
|
0.00001
|
NM_006231.4(POLE):c.4581C>T (p.Gly1527=)
|
rs772646117
|
0.00001
|
NM_006371.5(CRTAP):c.221A>T (p.His74Leu)
|
rs767924679
|
0.00001
|
NM_006493.4(CLN5):c.61C>T (p.Arg21Trp)
|
rs376454715
|
0.00001
|
NM_006545.5(NPRL2):c.1075+4G>A
|
rs1243049905
|
0.00001
|
NM_006545.5(NPRL2):c.963C>A (p.Asn321Lys)
|
rs1703611237
|
0.00001
|
NM_006727.5(CDH10):c.1781A>G (p.Asn594Ser)
|
rs913258374
|
0.00001
|
NM_006729.5(DIAPH2):c.2389A>T (p.Ile797Phe)
|
rs764330745
|
0.00001
|
NM_006734.4(HIVEP2):c.7223C>T (p.Thr2408Met)
|
rs375974004
|
0.00001
|
NM_006767.4(LZTR1):c.2407-2A>G
|
rs1158550690
|
0.00001
|
NM_006918.5(SC5D):c.22G>A (p.Ala8Thr)
|
rs141930747
|
0.00001
|
NM_006922.4(SCN3A):c.2626G>A (p.Gly876Ser)
|
rs1687231087
|
0.00001
|
NM_006941.4(SOX10):c.1018G>A (p.Val340Met)
|
rs549034055
|
0.00001
|
NM_007112.5(THBS3):c.1190G>A (p.Cys397Tyr)
|
rs1473356864
|
0.00001
|
NM_007194.4(CHEK2):c.1009-6G>A
|
rs775593362
|
0.00001
|
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys)
|
rs201206424
|
0.00001
|
NM_007194.4(CHEK2):c.1067C>T (p.Ser356Leu)
|
rs121908703
|
0.00001
|
NM_007194.4(CHEK2):c.1076A>G (p.Glu359Gly)
|
rs760449049
|
0.00001
|
NM_007194.4(CHEK2):c.1180G>A (p.Glu394Lys)
|
rs587780169
|
0.00001
|
NM_007194.4(CHEK2):c.1357G>C (p.Ala453Pro)
|
rs763395924
|
0.00001
|
NM_007194.4(CHEK2):c.1491T>C (p.Asp497=)
|
rs762041905
|
0.00001
|
NM_007194.4(CHEK2):c.1501G>A (p.Glu501Lys)
|
rs17883172
|
0.00001
|
NM_007194.4(CHEK2):c.1590C>T (p.Ala530=)
|
rs786201796
|
0.00001
|
NM_007194.4(CHEK2):c.1593G>A (p.Glu531=)
|
rs758555487
|
0.00001
|
NM_007194.4(CHEK2):c.368A>G (p.Tyr123Cys)
|
rs876658557
|
0.00001
|
NM_007194.4(CHEK2):c.444+3A>G
|
rs587781279
|
0.00001
|
NM_007194.4(CHEK2):c.520C>T (p.Leu174Phe)
|
rs876659400
|
0.00001
|
NM_007194.4(CHEK2):c.549G>C (p.Leu183Phe)
|
rs745646057
|
0.00001
|
NM_007194.4(CHEK2):c.592+4A>G
|
rs375905418
|
0.00001
|
NM_007194.4(CHEK2):c.714C>T (p.Phe238=)
|
rs864622322
|
0.00001
|
NM_007194.4(CHEK2):c.904G>A (p.Glu302Lys)
|
rs587782460
|
0.00001
|
NM_007194.4(CHEK2):c.906A>C (p.Glu302Asp)
|
rs587780190
|
0.00001
|
NM_007294.4(BRCA1):c.-44C>T
|
rs1262271602
|
0.00001
|
NM_007294.4(BRCA1):c.1081T>C (p.Ser361Pro)
|
rs80356946
|
0.00001
|
NM_007294.4(BRCA1):c.1105G>A (p.Asp369Asn)
|
rs56056711
|
0.00001
|
NM_007294.4(BRCA1):c.1227A>G (p.Val409=)
|
rs149349675
|
0.00001
|
NM_007294.4(BRCA1):c.135-1G>T
|
rs80358158
|
0.00001
|
NM_007294.4(BRCA1):c.1381T>C (p.Phe461Leu)
|
rs62625300
|
0.00001
|
NM_007294.4(BRCA1):c.1396C>T (p.Arg466Trp)
|
rs80356964
|
0.00001
|
NM_007294.4(BRCA1):c.1397G>A (p.Arg466Gln)
|
rs199540030
|
0.00001
|
NM_007294.4(BRCA1):c.144G>A (p.Met48Ile)
|
rs587783040
|
0.00001
|
NM_007294.4(BRCA1):c.1510C>T (p.Arg504Cys)
|
rs80357445
|
0.00001
|
NM_007294.4(BRCA1):c.154C>T (p.Leu52Phe)
|
rs80357084
|
0.00001
|
NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter)
|
rs80356898
|
0.00001
|
NM_007294.4(BRCA1):c.212+3A>G
|
rs80358083
|
0.00001
|
NM_007294.4(BRCA1):c.212+4T>C
|
rs398122652
|
0.00001
|
NM_007294.4(BRCA1):c.2183G>A (p.Arg728Lys)
|
rs80357335
|
0.00001
|
NM_007294.4(BRCA1):c.2207A>C (p.Glu736Ala)
|
rs397507196
|
0.00001
|
NM_007294.4(BRCA1):c.2295G>A (p.Glu765=)
|
rs201875054
|
0.00001
|
NM_007294.4(BRCA1):c.2347A>G (p.Ile783Val)
|
rs80356948
|
0.00001
|
NM_007294.4(BRCA1):c.2392C>T (p.Pro798Ser)
|
rs398122658
|
0.00001
|
NM_007294.4(BRCA1):c.2580A>G (p.Thr860=)
|
rs556684572
|
0.00001
|
NM_007294.4(BRCA1):c.2584A>G (p.Lys862Glu)
|
rs80356927
|
0.00001
|
NM_007294.4(BRCA1):c.2597G>A (p.Arg866His)
|
rs80356911
|
0.00001
|
NM_007294.4(BRCA1):c.2657C>G (p.Ser886Cys)
|
rs587782134
|
0.00001
|
NM_007294.4(BRCA1):c.2882A>G (p.Asn961Ser)
|
rs879254130
|
0.00001
|
NM_007294.4(BRCA1):c.2885A>G (p.Glu962Gly)
|
rs780367532
|
0.00001
|
NM_007294.4(BRCA1):c.2930C>T (p.Pro977Leu)
|
rs141465583
|
0.00001
|
NM_007294.4(BRCA1):c.301+12A>C
|
rs863224757
|
0.00001
|
NM_007294.4(BRCA1):c.3086A>G (p.Asn1029Ser)
|
rs753286589
|
0.00001
|
NM_007294.4(BRCA1):c.3327A>C (p.Lys1109Asn)
|
rs41293449
|
0.00001
|
NM_007294.4(BRCA1):c.3390A>G (p.Ser1130=)
|
rs757237039
|
0.00001
|
NM_007294.4(BRCA1):c.3448C>T (p.Pro1150Ser)
|
rs80357272
|
0.00001
|
NM_007294.4(BRCA1):c.3541G>A (p.Val1181Ile)
|
rs56336919
|
0.00001
|
NM_007294.4(BRCA1):c.3596C>T (p.Ala1199Val)
|
rs587782458
|
0.00001
|
NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter)
|
rs62625308
|
0.00001
|
NM_007294.4(BRCA1):c.3627dup (p.Glu1210fs)
|
rs80357729
|
0.00001
|
NM_007294.4(BRCA1):c.3707A>G (p.Asn1236Ser)
|
rs863224760
|
0.00001
|
NM_007294.4(BRCA1):c.3711A>G (p.Ile1237Met)
|
rs80357388
|
0.00001
|
NM_007294.4(BRCA1):c.3784T>C (p.Ser1262Pro)
|
rs1011096937
|
0.00001
|
NM_007294.4(BRCA1):c.378A>G (p.Gln126=)
|
rs786201256
|
0.00001
|
NM_007294.4(BRCA1):c.3848A>G (p.His1283Arg)
|
rs80357047
|
0.00001
|
NM_007294.4(BRCA1):c.4096+1G>A
|
rs80358178
|
0.00001
|
NM_007294.4(BRCA1):c.4096+27C>T
|
rs966550945
|
0.00001
|
NM_007294.4(BRCA1):c.4115G>A (p.Cys1372Tyr)
|
rs55848034
|
0.00001
|
NM_007294.4(BRCA1):c.4127C>G (p.Thr1376Arg)
|
rs80356986
|
0.00001
|
NM_007294.4(BRCA1):c.4144T>A (p.Cys1382Ser)
|
rs786202106
|
0.00001
|
NM_007294.4(BRCA1):c.4243del (p.Glu1415fs)
|
rs80357981
|
0.00001
|
NM_007294.4(BRCA1):c.4314C>G (p.Ala1438=)
|
rs80356856
|
0.00001
|
NM_007294.4(BRCA1):c.4347A>G (p.Thr1449=)
|
rs80356840
|
0.00001
|
NM_007294.4(BRCA1):c.4357+1G>A
|
rs80358027
|
0.00001
|
NM_007294.4(BRCA1):c.4422T>C (p.Ala1474=)
|
rs756281673
|
0.00001
|
NM_007294.4(BRCA1):c.4484+15T>C
|
rs760275914
|
0.00001
|
NM_007294.4(BRCA1):c.4485-1G>A
|
rs80358189
|
0.00001
|
NM_007294.4(BRCA1):c.4485-8C>T
|
rs397507234
|
0.00001
|
NM_007294.4(BRCA1):c.4508C>A (p.Ser1503Ter)
|
rs80357437
|
0.00001
|
NM_007294.4(BRCA1):c.463C>G (p.Gln155Glu)
|
rs80357180
|
0.00001
|
NM_007294.4(BRCA1):c.465A>T (p.Gln155His)
|
rs864622260
|
0.00001
|
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter)
|
rs80357433
|
0.00001
|
NM_007294.4(BRCA1):c.4776C>G (p.Asn1592Lys)
|
rs761925468
|
0.00001
|
NM_007294.4(BRCA1):c.4816A>G (p.Lys1606Glu)
|
rs80356943
|
0.00001
|
NM_007294.4(BRCA1):c.4843G>A (p.Ala1615Thr)
|
rs80356987
|
0.00001
|
NM_007294.4(BRCA1):c.4848T>C (p.Ala1616=)
|
rs1480250917
|
0.00001
|
NM_007294.4(BRCA1):c.4910C>T (p.Pro1637Leu)
|
rs80357048
|
0.00001
|
NM_007294.4(BRCA1):c.4987-11T>C
|
rs80358170
|
0.00001
|
NM_007294.4(BRCA1):c.5066T>C (p.Met1689Thr)
|
rs80357061
|
0.00001
|
NM_007294.4(BRCA1):c.5074+118C>T
|
rs1190376357
|
0.00001
|
NM_007294.4(BRCA1):c.5074G>C (p.Asp1692His)
|
rs80187739
|
0.00001
|
NM_007294.4(BRCA1):c.508C>T (p.Arg170Trp)
|
rs80357325
|
0.00001
|
NM_007294.4(BRCA1):c.5100A>G (p.Thr1700=)
|
rs45519437
|
0.00001
|
NM_007294.4(BRCA1):c.514del (p.Gln172fs)
|
rs80357872
|
0.00001
|
NM_007294.4(BRCA1):c.5153-13A>G
|
rs45471406
|
0.00001
|
NM_007294.4(BRCA1):c.5278-96del
|
rs55875201
|
0.00001
|
NM_007294.4(BRCA1):c.5324T>G (p.Met1775Arg)
|
rs41293463
|
0.00001
|
NM_007294.4(BRCA1):c.5333A>G (p.Asp1778Gly)
|
rs80357041
|
0.00001
|
NM_007294.4(BRCA1):c.535T>C (p.Tyr179His)
|
rs587781761
|
0.00001
|
NM_007294.4(BRCA1):c.5407-21C>G
|
rs273901768
|
0.00001
|
NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter)
|
rs80356962
|
0.00001
|
NM_007294.4(BRCA1):c.548-15G>A
|
rs755221482
|
0.00001
|
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter)
|
rs41293465
|
0.00001
|
NM_007294.4(BRCA1):c.5585A>T (p.His1862Leu)
|
rs80357183
|
0.00001
|
NM_007294.4(BRCA1):c.80+7C>T
|
rs80358098
|
0.00001
|
NM_007294.4(BRCA1):c.81-17C>G
|
rs757442952
|
0.00001
|
NM_007294.4(BRCA1):c.810T>C (p.His270=)
|
rs778359104
|
0.00001
|
NM_007294.4(BRCA1):c.825C>T (p.Gly275=)
|
rs397509328
|
0.00001
|
NM_007294.4(BRCA1):c.985A>T (p.Asn329Tyr)
|
rs786203732
|
0.00001
|
NM_012183.3(FOXD3):c.1024C>A (p.Gln342Lys)
|
rs565977990
|
0.00001
|
NM_012330.4(KAT6B):c.362C>T (p.Pro121Leu)
|
rs201828896
|
0.00001
|
NM_012431.3(SEMA3E):c.1991C>T (p.Thr664Met)
|
rs375536813
|
0.00001
|
NM_012452.3(TNFRSF13B):c.40C>T (p.Arg14Cys)
|
rs370503383
|
0.00001
|
NM_013275.6(ANKRD11):c.1622A>G (p.Gln541Arg)
|
rs751544677
|
0.00001
|
NM_013319.3(UBIAD1):c.460C>T (p.Pro154Ser)
|
rs758882194
|
0.00001
|
NM_013339.4(ALG6):c.591A>G (p.Ile197Met)
|
rs753024606
|
0.00001
|
NM_014028.4(OSTM1):c.797G>A (p.Arg266Gln)
|
rs147618525
|
0.00001
|
NM_014243.3(ADAMTS3):c.2617C>T (p.Arg873Cys)
|
rs759621311
|
0.00001
|
NM_014314.4(RIGI):c.1639-4A>G
|
rs765214948
|
0.00001
|
NM_014365.3(HSPB8):c.17T>C (p.Met6Thr)
|
rs530083542
|
0.00001
|
NM_014494.4(TNRC6A):c.1182G>A (p.Gln394=)
|
rs2058058860
|
0.00001
|
NM_014588.6(VSX1):c.64T>A (p.Ser22Thr)
|
rs1475273454
|
0.00001
|
NM_014629.4(ARHGEF10):c.3581C>T (p.Thr1194Met)
|
rs150598687
|
0.00001
|
NM_014727.3(KMT2B):c.4199G>A (p.Arg1400His)
|
rs371324331
|
0.00001
|
NM_014727.3(KMT2B):c.5740C>T (p.Arg1914Cys)
|
rs949745356
|
0.00001
|
NM_014795.4(ZEB2):c.2497A>G (p.Thr833Ala)
|
rs1490526407
|
0.00001
|
NM_014915.3(ANKRD26):c.3661G>A (p.Val1221Met)
|
rs376882515
|
0.00001
|
NM_014989.7(RIMS1):c.1479G>T (p.Glu493Asp)
|
rs753784735
|
0.00001
|
NM_014991.6(WDFY3):c.9155G>C (p.Trp3052Ser)
|
rs760075096
|
0.00001
|
NM_015158.5(KANK1):c.1173G>T (p.Glu391Asp)
|
rs761807707
|
0.00001
|
NM_015158.5(KANK1):c.1901C>G (p.Ser634Cys)
|
rs1305877076
|
0.00001
|
NM_015278.5(SASH1):c.3661G>A (p.Gly1221Ser)
|
rs757432307
|
0.00001
|
NM_015330.6(SPECC1L):c.214G>A (p.Val72Ile)
|
rs747253444
|
0.00001
|
NM_015559.3(SETBP1):c.2210C>T (p.Pro737Leu)
|
rs753974276
|
0.00001
|
NM_015978.3(TNNI3K):c.1178-1G>A
|
rs907936579
|
0.00001
|
NM_015978.3(TNNI3K):c.187C>T (p.Arg63Cys)
|
rs79045456
|
0.00001
|
NM_016203.4(PRKAG2):c.1003A>G (p.Met335Val)
|
rs769428744
|
0.00001
|
NM_016269.5(LEF1):c.584C>G (p.Thr195Ser)
|
rs1442283587
|
0.00001
|
NM_016525.5(UBAP1):c.904C>G (p.Leu302Val)
|
rs1432496591
|
0.00001
|
NM_016580.4(PCDH12):c.1060del (p.Val354fs)
|
rs1199523766
|
0.00001
|
NM_017617.5(NOTCH1):c.1077C>T (p.Cys359=)
|
rs202235419
|
0.00001
|
NM_017636.4(TRPM4):c.743G>A (p.Arg248His)
|
rs748954661
|
0.00001
|
NM_017752.3(TBC1D8B):c.1634C>A (p.Ala545Asp)
|
rs779137693
|
0.00001
|
NM_017760.7(NCAPG2):c.44T>C (p.Leu15Pro)
|
rs201943203
|
0.00001
|
NM_017780.4(CHD7):c.7411T>C (p.Ser2471Pro)
|
rs769178123
|
0.00001
|
NM_017849.4(TMEM127):c.169C>T (p.His57Tyr)
|
rs1294717128
|
0.00001
|
NM_017950.4(CCDC40):c.2497A>G (p.Met833Val)
|
rs376911979
|
0.00001
|
NM_018116.4(MSTO1):c.1291A>T (p.Thr431Ser)
|
rs765144096
|
0.00001
|
NM_018230.3(NUP133):c.1384A>G (p.Ile462Val)
|
rs759574477
|
0.00001
|
NM_018429.3(BDP1):c.6733C>G (p.Pro2245Ala)
|
rs367642215
|
0.00001
|
NM_020151.4(STARD7):c.1045G>T (p.Ala349Ser)
|
rs765565436
|
0.00001
|
NM_020159.5(SMARCAD1):c.2905A>G (p.Thr969Ala)
|
rs150777961
|
0.00001
|
NM_020312.4(COQ9):c.76G>T (p.Ala26Ser)
|
rs373320547
|
0.00001
|
NM_020401.4(NUP107):c.503G>A (p.Ser168Asn)
|
rs143364178
|
0.00001
|
NM_020433.5(JPH2):c.1667G>A (p.Arg556Gln)
|
rs780999986
|
0.00001
|
NM_020638.3(FGF23):c.673G>A (p.Gly225Arg)
|
rs750025882
|
0.00001
|
NM_020647.4(JPH1):c.625G>A (p.Gly209Ser)
|
rs749746871
|
0.00001
|
NM_020800.3(IFT80):c.1378A>G (p.Lys460Glu)
|
rs765887862
|
0.00001
|
NM_020937.4(FANCM):c.2458A>G (p.Asn820Asp)
|
rs765507230
|
0.00001
|
NM_020937.4(FANCM):c.5204C>T (p.Ser1735Leu)
|
rs112745068
|
0.00001
|
NM_021034.3(IFITM3):c.280A>T (p.Thr94Ser)
|
rs1299900233
|
0.00001
|
NM_021133.4(RNASEL):c.418G>T (p.Ala140Ser)
|
rs758397188
|
0.00001
|
NM_022124.6(CDH23):c.7087G>A (p.Glu2363Lys)
|
rs753690054
|
0.00001
|
NM_022168.4(IFIH1):c.2069T>C (p.Leu690Pro)
|
rs189782013
|
0.00001
|
NM_022464.5(SIL1):c.648G>C (p.Met216Ile)
|
rs538181924
|
0.00001
|
NM_022464.5(SIL1):c.905A>G (p.Tyr302Cys)
|
rs1190963939
|
0.00001
|
NM_023110.3(FGFR1):c.1399G>A (p.Glu467Lys)
|
rs923019674
|
0.00001
|
NM_024077.5(SECISBP2):c.695A>G (p.Asn232Ser)
|
rs750548843
|
0.00001
|
NM_024407.5(NDUFS7):c.47G>A (p.Gly16Asp)
|
rs552179138
|
0.00001
|
NM_024408.4(NOTCH2):c.6469C>A (p.Pro2157Thr)
|
rs587640708
|
0.00001
|
NM_024411.5(PDYN):c.-80+226T>C
|
rs1361236863
|
0.00001
|
NM_024426.6(WT1):c.1104A>T (p.Arg368Ser)
|
rs544966826
|
0.00001
|
NM_024519.4(RIPOR1):c.2951C>T (p.Pro984Leu)
|
rs781312153
|
0.00001
|
NM_024656.4(COLGALT1):c.1037T>A (p.Ile346Asn)
|
rs761321377
|
0.00001
|
NM_024675.4(PALB2):c.1110G>A (p.Gln370=)
|
rs756002989
|
0.00001
|
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter)
|
rs180177100
|
0.00001
|
NM_024675.4(PALB2):c.1446C>G (p.Leu482=)
|
rs368759893
|
0.00001
|
NM_024675.4(PALB2):c.1597A>G (p.Thr533Ala)
|
rs1393117824
|
0.00001
|
NM_024675.4(PALB2):c.1633G>T (p.Glu545Ter)
|
rs180177103
|
0.00001
|
NM_024675.4(PALB2):c.1720T>C (p.Ser574Pro)
|
rs1214293842
|
0.00001
|
NM_024675.4(PALB2):c.2012T>G (p.Leu671Ter)
|
rs755263466
|
0.00001
|
NM_024675.4(PALB2):c.21G>A (p.Lys7=)
|
rs1424944402
|
0.00001
|
NM_024675.4(PALB2):c.2342G>A (p.Ser781Asn)
|
rs761298847
|
0.00001
|
NM_024675.4(PALB2):c.2344C>T (p.Pro782Ser)
|
rs786203296
|
0.00001
|
NM_024675.4(PALB2):c.2435C>T (p.Pro812Leu)
|
rs774502617
|
0.00001
|
NM_024675.4(PALB2):c.2505C>T (p.Ser835=)
|
rs756502783
|
0.00001
|
NM_024675.4(PALB2):c.2619T>G (p.Ser873Arg)
|
rs587782387
|
0.00001
|
NM_024675.4(PALB2):c.2720A>G (p.Glu907Gly)
|
rs45504298
|
0.00001
|
NM_024675.4(PALB2):c.2750T>C (p.Val917Ala)
|
rs763645981
|
0.00001
|
NM_024675.4(PALB2):c.2792T>G (p.Leu931Arg)
|
rs773831304
|
0.00001
|
NM_024675.4(PALB2):c.2922G>T (p.Lys974Asn)
|
rs730881892
|
0.00001
|
NM_024675.4(PALB2):c.3024C>T (p.Pro1008=)
|
rs180177130
|
0.00001
|
NM_024675.4(PALB2):c.3128G>C (p.Gly1043Ala)
|
rs377713277
|
0.00001
|
NM_024675.4(PALB2):c.3202-9C>T
|
rs757444247
|
0.00001
|
NM_024675.4(PALB2):c.3278T>C (p.Ile1093Thr)
|
rs45616636
|
0.00001
|
NM_024675.4(PALB2):c.3415A>G (p.Ile1139Val)
|
rs1249960937
|
0.00001
|
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter)
|
rs118203998
|
0.00001
|
NM_024675.4(PALB2):c.405T>C (p.Pro135=)
|
rs786201586
|
0.00001
|
NM_024675.4(PALB2):c.424A>T (p.Lys142Ter)
|
rs587782005
|
0.00001
|
NM_024675.4(PALB2):c.495C>T (p.Gly165=)
|
rs200937538
|
0.00001
|
NM_024675.4(PALB2):c.660T>C (p.Ser220=)
|
rs571762192
|
0.00001
|
NM_024675.4(PALB2):c.824C>T (p.Thr275Ile)
|
rs786202499
|
0.00001
|
NM_024675.4(PALB2):c.828C>T (p.His276=)
|
rs911713488
|
0.00001
|
NM_024675.4(PALB2):c.84C>T (p.Tyr28=)
|
rs761533286
|
0.00001
|
NM_024675.4(PALB2):c.899C>T (p.Thr300Ile)
|
rs528541334
|
0.00001
|
NM_024675.4(PALB2):c.902A>G (p.Asp301Gly)
|
rs759014440
|
0.00001
|
NM_024675.4(PALB2):c.928A>G (p.Ser310Gly)
|
rs45561331
|
0.00001
|
NM_024721.5(ZFHX4):c.9388C>A (p.Pro3130Thr)
|
rs1050517741
|
0.00001
|
NM_025074.7(FRAS1):c.2423A>G (p.Asp808Gly)
|
rs781560608
|
0.00001
|
NM_030777.4(SLC2A10):c.475G>T (p.Gly159Cys)
|
rs761947206
|
0.00001
|
NM_031433.4(MFRP):c.1125-3C>A
|
rs1277780681
|
0.00001
|
NM_031935.3(HMCN1):c.13333G>A (p.Glu4445Lys)
|
rs1192219867
|
0.00001
|
NM_031935.3(HMCN1):c.15076C>T (p.Arg5026Trp)
|
rs536701183
|
0.00001
|
NM_031935.3(HMCN1):c.2656G>A (p.Gly886Arg)
|
rs368702685
|
0.00001
|
NM_032043.3(BRIP1):c.10A>G (p.Met4Val)
|
rs45512093
|
0.00001
|
NM_032043.3(BRIP1):c.1187A>G (p.His396Arg)
|
rs996493095
|
0.00001
|
NM_032043.3(BRIP1):c.1455T>C (p.Ala485=)
|
rs773489367
|
0.00001
|
NM_032043.3(BRIP1):c.1474-3T>C
|
rs552752779
|
0.00001
|
NM_032043.3(BRIP1):c.2441G>A (p.Arg814His)
|
rs45468199
|
0.00001
|
NM_032043.3(BRIP1):c.2579T>C (p.Leu860Pro)
|
rs587780242
|
0.00001
|
NM_032043.3(BRIP1):c.2802T>G (p.Phe934Leu)
|
rs1259968679
|
0.00001
|
NM_032043.3(BRIP1):c.3262C>T (p.His1088Tyr)
|
rs878855154
|
0.00001
|
NM_032043.3(BRIP1):c.845C>G (p.Thr282Ser)
|
rs45624635
|
0.00001
|
NM_032782.5(HAVCR2):c.332G>A (p.Arg111Gln)
|
rs367701067
|
0.00001
|
NM_033004.4(NLRP1):c.3577C>A (p.Leu1193Ile)
|
rs200259296
|
0.00001
|
NM_033118.4(MYLK2):c.793G>C (p.Ala265Pro)
|
rs1301751855
|
0.00001
|
NM_058216.3(RAD51C):c.1008A>G (p.Thr336=)
|
rs1057521598
|
0.00001
|
NM_058216.3(RAD51C):c.233C>T (p.Thr78Ile)
|
rs112832782
|
0.00001
|
NM_058216.3(RAD51C):c.571+4A>G
|
rs587780257
|
0.00001
|
NM_058216.3(RAD51C):c.641G>A (p.Arg214His)
|
rs760911964
|
0.00001
|
NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter)
|
rs770637624
|
0.00001
|
NM_058216.3(RAD51C):c.772C>T (p.Arg258Cys)
|
rs587782474
|
0.00001
|
NM_058216.3(RAD51C):c.904+5G>T
|
rs587782702
|
0.00001
|
NM_080683.3(PTPN13):c.3160G>A (p.Val1054Ile)
|
rs1458756205
|
0.00001
|
NM_138281.3(DLX4):c.556G>T (p.Asp186Tyr)
|
rs139954414
|
0.00001
|
NM_138395.4(MARS2):c.1039A>G (p.Lys347Glu)
|
rs758222959
|
0.00001
|
NM_138694.4(PKHD1):c.11578A>G (p.Ile3860Val)
|
rs755986501
|
0.00001
|
NM_138694.4(PKHD1):c.1A>G (p.Met1Val)
|
rs376987651
|
0.00001
|
NM_138694.4(PKHD1):c.2864T>G (p.Phe955Cys)
|
rs777158800
|
0.00001
|
NM_138694.4(PKHD1):c.3561-11A>G
|
rs774114631
|
0.00001
|
NM_138694.4(PKHD1):c.383del (p.Thr128fs)
|
rs868562051
|
0.00001
|
NM_138694.4(PKHD1):c.7482A>T (p.Gly2494=)
|
rs199996156
|
0.00001
|
NM_138694.4(PKHD1):c.7873T>C (p.Leu2625=)
|
rs140033417
|
0.00001
|
NM_138694.4(PKHD1):c.8080A>G (p.Ser2694Gly)
|
rs775472136
|
0.00001
|
NM_138694.4(PKHD1):c.9146A>G (p.His3049Arg)
|
rs367678592
|
0.00001
|
NM_139027.6(ADAMTS13):c.3284G>A (p.Arg1095Gln)
|
rs373569027
|
0.00001
|
NM_139027.6(ADAMTS13):c.3400+94G>A
|
rs139286990
|
0.00001
|
NM_139027.6(ADAMTS13):c.3839G>A (p.Arg1280Gln)
|
rs782213090
|
0.00001
|
NM_144668.6(CFAP251):c.1870G>A (p.Gly624Arg)
|
rs79320015
|
0.00001
|
NM_144687.4(NLRP12):c.2321G>A (p.Arg774Lys)
|
rs780092868
|
0.00001
|
NM_144736.5(NDUFAF7):c.1069C>T (p.His357Tyr)
|
rs1252296942
|
0.00001
|
NM_145331.3(MAP3K7):c.1408C>A (p.Pro470Thr)
|
rs1003317029
|
0.00001
|
NM_147127.5(EVC2):c.2152G>A (p.Gly718Ser)
|
rs762306367
|
0.00001
|
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter)
|
rs751356206
|
0.00001
|
NM_152383.5(DIS3L2):c.2585C>T (p.Thr862Ile)
|
rs778725551
|
0.00001
|
NM_152564.5(VPS13B):c.8881C>T (p.Leu2961=)
|
rs773387480
|
0.00001
|
NM_152703.5(SAMD9L):c.4394G>A (p.Arg1465His)
|
rs190393069
|
0.00001
|
NM_170601.5(SIAE):c.301C>A (p.Gln101Lys)
|
rs145396113
|
0.00001
|
NM_170606.3(KMT2C):c.11506C>A (p.Gln3836Lys)
|
rs575806970
|
0.00001
|
NM_173628.4(DNAH17):c.8911C>T (p.Arg2971Cys)
|
rs755460471
|
0.00001
|
NM_173651.4(FSIP2):c.707G>A (p.Arg236Gln)
|
rs1051987034
|
0.00001
|
NM_173651.4(FSIP2):c.7540T>C (p.Phe2514Leu)
|
rs551594235
|
0.00001
|
NM_173660.5(DOK7):c.683A>T (p.Glu228Val)
|
rs554429759
|
0.00001
|
NM_175053.4(KRT74):c.1165G>A (p.Ala389Thr)
|
rs551613378
|
0.00001
|
NM_175875.5(SIX5):c.945C>G (p.Cys315Trp)
|
rs1444936221
|
0.00001
|
NM_178857.6(RP1L1):c.3565A>G (p.Met1189Val)
|
rs1334046331
|
0.00001
|
NM_181458.4(PAX3):c.564C>G (p.Ile188Met)
|
rs759181003
|
0.00001
|
NM_182894.3(VSX2):c.505G>A (p.Glu169Lys)
|
rs573993188
|
0.00001
|
NM_182914.3(SYNE2):c.14801A>G (p.His4934Arg)
|
rs758936935
|
0.00001
|
NM_182961.4(SYNE1):c.12272A>G (p.Asp4091Gly)
|
rs767294741
|
0.00001
|
NM_182961.4(SYNE1):c.22615C>T (p.Leu7539Phe)
|
rs768346744
|
0.00001
|
NM_182961.4(SYNE1):c.8374C>T (p.Arg2792Cys)
|
rs1249221823
|
0.00001
|
NM_194302.4(CFAP65):c.2458G>A (p.Val820Ile)
|
rs752204587
|
0.00001
|
NM_198428.3(BBS9):c.1352T>C (p.Ile451Thr)
|
rs773192233
|
0.00001
|
NM_198525.3(KIF7):c.3505C>T (p.Gln1169Ter)
|
rs1963620354
|
0.00001
|
NM_199420.4(POLQ):c.6127C>T (p.Arg2043Ter)
|
rs762108057
|
0.00001
|
NM_199420.4(POLQ):c.7610A>C (p.Gln2537Pro)
|
rs1184837633
|
0.00001
|
NM_201384.3(PLEC):c.12345C>T (p.Gly4115=)
|
rs782237566
|
0.00001
|
NM_201596.3(CACNB2):c.213+110356G>T
|
rs942130254
|
0.00001
|
NM_201596.3(CACNB2):c.314C>G (p.Ala105Gly)
|
rs375218580
|
0.00001
|
NM_206933.4(USH2A):c.12458C>T (p.Ala4153Val)
|
rs779875423
|
0.00001
|
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe)
|
rs41315579
|
0.00001
|
NM_206933.4(USH2A):c.8845+2T>G
|
rs1441350225
|
0.00001
|
NM_206933.4(USH2A):c.9834C>A (p.Asn3278Lys)
|
rs904037823
|
0.00001
|
NM_207361.6(FREM2):c.326T>C (p.Val109Ala)
|
rs909150998
|
0.00001
|
NM_212482.4(FN1):c.4473A>T (p.Arg1491Ser)
|
rs2059079828
|
0.00001
|
NC_000001.11:g.100741257AT[21]
|
rs58468081
|
|
NC_000001.11:g.206762855CTTTC[10]
|
rs5780361
|
|
NC_000001.11:g.206762855CTTTC[9]
|
rs5780361
|
|
NC_000002.12:g.(?_47482779)_(47482949_?)del
|
|
|
NC_000002.12:g.201231781G>A
|
rs2126072442
|
|
NC_000002.12:g.55141241C>T
|
rs1022499902
|
|
NC_000003.12:g.196048004_196048005insGAAAAA
|
rs1553789804
|
|
NC_000003.12:g.196084410_196084415del
|
rs1307404790
|
|
NC_000004.12:g.153681414_153681419dup
|
rs750797246
|
|
NC_000004.12:g.38770687_38770688insCTATATATATATATATATATAT
|
rs1553899441
|
|
NC_000004.12:g.38792855AT[27]
|
rs72518392
|
|
NC_000004.12:g.86457483C>A
|
rs1012411239
|
|
NC_000006.12:g.29948263G>A
|
rs9256984
|
|
NC_000006.12:g.60545040_60545041insCACCAAGGC
|
rs373452397
|
|
NC_000006.12:g.60545041_60545042insTA
|
rs376103961
|
|
NC_000006.12:g.60545047_60545049del
|
rs368894562
|
|
NC_000007.14:g.101247301A[8]TA[3]
|
rs762133451
|
|
NC_000007.14:g.22725249C>A
|
rs142930253
|
|
NC_000007.14:g.84195026GA[12]
|
rs60880561
|
|
NC_000007.14:g.84195026GA[13]
|
rs60880561
|
|
NC_000008.11:g.30673639_30673644del
|
rs1196647012
|
|
NC_000009.12:g.117724891CA[28]
|
rs10600140
|
|
NC_000011.10:g.102847936G>C
|
rs2134406683
|
|
NC_000011.10:g.105035619_105035631dup
|
rs56746743
|
|
NC_000011.10:g.105035621_105035631dup
|
rs56746743
|
|
NC_000011.10:g.88291571AAAG[15]
|
rs36141641
|
|
NC_000011.10:g.88291571AAAG[8]
|
rs36141641
|
|
NC_000011.10:g.95926792_95926793insAAAAAAAA
|
rs1867176179
|
|
NC_000012.12:g.122424444CAT[1]
|
rs1347688108
|
|
NC_000012.12:g.6343645_6343646insTGGGCTGCTAGAAATGCAGGCAGCTAGAAATTTCT
|
rs34822098
|
|
NC_000015.10:g.68229774_68229793dup
|
rs71145145
|
|
NC_000015.10:g.72340843AC[22]
|
rs59612514
|
|
NC_000015.10:g.72340843AC[24]
|
rs59612514
|
|
NC_000016.10:g.2090809del
|
rs2091475541
|
|
NC_000016.10:g.31257008_31257021delinsC
|
rs1555463096
|
|
NC_000016.10:g.31258314_31258316dup
|
rs58618897
|
|
NC_000016.10:g.31334579dup
|
rs1193125820
|
|
NC_000016.10:g.31334604T>C
|
rs866097846
|
|
NC_000016.10:g.56663954_56663955insGTAA
|
rs201979869
|
|
NC_000016.10:g.56663955_56663956insG
|
rs5817072
|
|
NC_000016.10:g.68828174_68828304del
|
|
|
NC_000017.11:g.34251039C>A
|
rs969326231
|
|
NC_000017.11:g.43045676_43045803del
|
rs2152474705
|
|
NC_000017.11:g.43125424_43125428del
|
rs2154580334
|
|
NC_000017.11:g.5028807dup
|
rs71367870
|
|
NC_000017.11:g.82751577_82751580C[5]GCCCCC[1]
|
rs1468582936
|
|
NC_000017.11:g.8969511TTA[11]
|
rs35308243
|
|
NC_000019.10:g.53880653_53880654insAAGAGAGATTCAGAGTCAGAGAAACATAGAGATTCATAGAGCCAGAGACACAGAGAGATTCAGAGTCAGAGAAACATAGAGATTCATAGAGCCAGAGACA
|
rs2122967545
|
|
NC_000020.11:g.31659579dup
|
rs34163437
|
|
NC_000020.11:g.31663046_31663056AT[6]AC[4]AT[4]ACATATAT[2]ATACACACACATATACACACACACACACACACACATATATATATA[1]
|
rs2060536712
|
|
NC_000022.11:g.32500543_32500544insGTTTTTTTTTTT
|
rs1491455113
|
|
NC_000022.11:g.32500544C>T
|
rs5754117
|
|
NC_000022.11:g.32500544delinsGTTTTTTTTTTTT
|
rs2146012411
|
|
NC_000022.11:g.32503839_32503840insACGCCCCAACCTCTTATCTCTGCGCCCCAATCGCTTATTTCC
|
rs772026385
|
|
NM_000032.5(ALAS2):c.1321G>A (p.Glu441Lys)
|
rs760790600
|
|
NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp)
|
rs128624224
|
|
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro)
|
rs201774661
|
|
NM_000033.4(ABCD1):c.1823G>A (p.Gly608Asp)
|
rs78993751
|
|
NM_000033.4(ABCD1):c.688C>T (p.Leu230Phe)
|
rs2148389639
|
|
NM_000033.4(ABCD1):c.796G>A (p.Gly266Arg)
|
rs128624218
|
|
NM_000035.4(ALDOB):c.1005C>G (p.Asn335Lys)
|
rs78340951
|
|
NM_000038.5(APC):c.-85-?_-19+?del
|
|
|
NM_000038.5(APC):c.-85-?_1048+?del
|
|
|
NM_000038.5(APC):c.-85-?_1743+?del
|
|
|
NM_000038.5(APC):c.-85-?_834+?del
|
|
|
NM_000038.5(APC):c.1-?_1408+?del
|
|
|
NM_000038.5(APC):c.1-?_1958+?del
|
|
|
NM_000038.5(APC):c.1-?_8532+?del
|
|
|
NM_000038.5(APC):c.1313-?_8532+?del
|
|
|
NM_000038.5(APC):c.1409-?_1626+?del
|
|
|
NM_000038.5(APC):c.2155-?_3960+?del
|
|
|
NM_000038.5(APC):c.3146-?_8532+?del
|
|
|
NM_000038.5(APC):c.423-?_729+?del
|
|
|
NM_000038.6(APC):c.-2_135+1274del
|
|
|
NM_000038.6(APC):c.-2_135+1824del
|
|
|
NM_000038.6(APC):c.-2_136-2903del
|
|
|
NM_000038.6(APC):c.1046_1140del (p.Gln349fs)
|
rs2149780373
|
|
NM_000038.6(APC):c.1048_1141del (p.Ser350fs)
|
rs1554079988
|
|
NM_000038.6(APC):c.1175A>G (p.His392Arg)
|
rs876658392
|
|
NM_000038.6(APC):c.1213del (p.Arg405fs)
|
rs1554080070
|
|
NM_000038.6(APC):c.121dup (p.Ala41fs)
|
rs2149738744
|
|
NM_000038.6(APC):c.1259_1269del (p.Cys420fs)
|
rs2149783399
|
|
NM_000038.6(APC):c.1293G>A (p.Met431Ile)
|
rs786201795
|
|
NM_000038.6(APC):c.1312+1G>A
|
rs863225310
|
|
NM_000038.6(APC):c.1312+3A>G
|
rs863225311
|
|
NM_000038.6(APC):c.1313-2_1743+144del
|
|
|
NM_000038.6(APC):c.1343dup (p.Ala449fs)
|
rs1554080695
|
|
NM_000038.6(APC):c.1354_1355dup (p.Leu453fs)
|
rs1554080698
|
|
NM_000038.6(APC):c.1370C>A (p.Ser457Ter)
|
rs1060503333
|
|
NM_000038.6(APC):c.1374T>C (p.Phe458=)
|
rs2149792451
|
|
NM_000038.6(APC):c.1409-1G>A
|
rs863225313
|
|
NM_000038.6(APC):c.1409-2A>T
|
rs1064794163
|
|
NM_000038.6(APC):c.1409-2_1548+79del
|
rs2149808357
|
|
NM_000038.6(APC):c.1409-2del
|
rs2149808371
|
|
NM_000038.6(APC):c.1440A>C (p.Gln480His)
|
rs863224537
|
|
NM_000038.6(APC):c.1467_1479del (p.Asn490fs)
|
rs1580565026
|
|
NM_000038.6(APC):c.147_150del (p.Lys49fs)
|
rs587781694
|
|
NM_000038.6(APC):c.1495C>T (p.Arg499Ter)
|
rs137854580
|
|
NM_000038.6(APC):c.1548G>C (p.Lys516Asn)
|
rs879254090
|
|
NM_000038.6(APC):c.156del (p.Gly53fs)
|
rs1581160123
|
|
NM_000038.6(APC):c.1577T>C (p.Met526Thr)
|
rs2149813492
|
|
NM_000038.6(APC):c.1592C>G (p.Ala531Gly)
|
rs755879124
|
|
NM_000038.6(APC):c.1605_1606del (p.Glu536fs)
|
rs1554081906
|
|
NM_000038.6(APC):c.1621C>T (p.Gln541Ter)
|
rs137854572
|
|
NM_000038.6(APC):c.1657del (p.Trp553fs)
|
rs1114167594
|
|
NM_000038.6(APC):c.1690C>T (p.Arg564Ter)
|
rs137854574
|
|
NM_000038.6(APC):c.1742_1743del (p.Lys581fs)
|
rs2149818599
|
|
NM_000038.6(APC):c.1744-1G>C
|
rs976449430
|
|
NM_000038.6(APC):c.1744-2A>G
|
rs587783035
|
|
NM_000038.6(APC):c.1744-2_1958+1del
|
rs2149840729
|
|
NM_000038.6(APC):c.1744-4C>G
|
rs772745309
|
|
NM_000038.6(APC):c.1766_1767dup (p.Ser590Ter)
|
rs1554083122
|
|
NM_000038.6(APC):c.1779G>A (p.Trp593Ter)
|
rs1554083132
|
|
NM_000038.6(APC):c.1787C>G (p.Ser596Ter)
|
rs1554083134
|
|
NM_000038.6(APC):c.1866C>A (p.Tyr622Ter)
|
rs876658355
|
|
NM_000038.6(APC):c.1875_1878del (p.Asn627fs)
|
rs878853420
|
|
NM_000038.6(APC):c.1886T>G (p.Leu629Ter)
|
rs1019221239
|
|
NM_000038.6(APC):c.1904G>A (p.Gly635Glu)
|
rs730881239
|
|
NM_000038.6(APC):c.190G>T (p.Gly64Ter)
|
rs79323615
|
|
NM_000038.6(APC):c.194del (p.Gln65fs)
|
rs2149784543
|
|
NM_000038.6(APC):c.1956C>T (p.His652=)
|
rs1064793716
|
|
NM_000038.6(APC):c.1957A>G (p.Arg653Gly)
|
rs1114167580
|
|
NM_000038.6(APC):c.1958+1G>A
|
rs1114167569
|
|
NM_000038.6(APC):c.1958+1_1958+2dup
|
rs1561569606
|
|
NM_000038.6(APC):c.1958G>A (p.Arg653Lys)
|
rs1060503318
|
|
NM_000038.6(APC):c.1959-2A>G
|
rs876658214
|
|
NM_000038.6(APC):c.1974_1975del (p.Asn659fs)
|
rs863225322
|
|
NM_000038.6(APC):c.1993_1994del (p.Leu665fs)
|
rs1580617349
|
|
NM_000038.6(APC):c.2031_2034del (p.Ser678fs)
|
rs878853422
|
|
NM_000038.6(APC):c.203T>G (p.Leu68Ter)
|
rs1554069549
|
|
NM_000038.6(APC):c.2093T>G (p.Leu698Ter)
|
rs137854582
|
|
NM_000038.6(APC):c.2186_2187insGCAGCTT (p.Met730fs)
|
rs1554083998
|
|
NM_000038.6(APC):c.220+1G>A
|
rs1554069570
|
|
NM_000038.6(APC):c.220+2T>A
|
rs587781809
|
|
NM_000038.6(APC):c.220+3A>G
|
rs1554069573
|
|
NM_000038.6(APC):c.220G>T (p.Glu74Ter)
|
rs876658941
|
|
NM_000038.6(APC):c.2291dup (p.Leu764fs)
|
rs2149865532
|
|
NM_000038.6(APC):c.230T>A (p.Leu77Ter)
|
rs2149787552
|
|
NM_000038.6(APC):c.2395dup (p.Tyr799fs)
|
rs879254110
|
|
NM_000038.6(APC):c.2397dup (p.Val800fs)
|
rs2149868296
|
|
NM_000038.6(APC):c.2413C>T (p.Arg805Ter)
|
rs587779783
|
|
NM_000038.6(APC):c.2487del (p.Val830fs)
|
rs2149870772
|
|
NM_000038.6(APC):c.2547_2550del (p.Asp849fs)
|
rs398123118
|
|
NM_000038.6(APC):c.2570del (p.Gly857fs)
|
rs876658472
|
|
NM_000038.6(APC):c.2612del (p.Gly871fs)
|
rs1554084299
|
|
NM_000038.6(APC):c.2626C>T (p.Arg876Ter)
|
rs121913333
|
|
NM_000038.6(APC):c.2677G>T (p.Glu893Ter)
|
rs199740875
|
|
NM_000038.6(APC):c.2694del (p.His898fs)
|
rs1554084389
|
|
NM_000038.6(APC):c.2789C>T (p.Thr930Ile)
|
rs1580627038
|
|
NM_000038.6(APC):c.2802_2805del (p.Tyr935fs)
|
rs1131691143
|
|
NM_000038.6(APC):c.2804dup (p.Tyr935Ter)
|
rs863225332
|
|
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter)
|
rs137854575
|
|
NM_000038.6(APC):c.2805C>G (p.Tyr935Ter)
|
rs137854575
|
|
NM_000038.6(APC):c.2819C>T (p.Ser940Leu)
|
rs544709767
|
|
NM_000038.6(APC):c.2819del (p.Ser940fs)
|
rs1554084508
|
|
NM_000038.6(APC):c.288T>A (p.Tyr96Ter)
|
rs376213437
|
|
NM_000038.6(APC):c.2893_2896del (p.Asn965fs)
|
rs2149879574
|
|
NM_000038.6(APC):c.2895_2896del (p.Asn965fs)
|
rs1554084576
|
|
NM_000038.6(APC):c.2928_2929del (p.Gly977fs)
|
rs2149880355
|
|
NM_000038.6(APC):c.2938A>T (p.Lys980Ter)
|
rs1554084592
|
|
NM_000038.6(APC):c.2950G>T (p.Glu984Ter)
|
rs1254176854
|
|
NM_000038.6(APC):c.2995C>T (p.Gln999Ter)
|
rs75239284
|
|
NM_000038.6(APC):c.3026del (p.His1009fs)
|
rs2149882615
|
|
NM_000038.6(APC):c.3028del (p.Ser1010fs)
|
rs1554084648
|
|
NM_000038.6(APC):c.3067dup (p.Thr1023fs)
|
rs876658724
|
|
NM_000038.6(APC):c.3077A>C (p.Asn1026Thr)
|
rs1114167603
|
|
NM_000038.6(APC):c.3079del (p.Tyr1027fs)
|
rs863225337
|
|
NM_000038.6(APC):c.3114_3115del (p.Gly1039fs)
|
rs1554084698
|
|
NM_000038.6(APC):c.3147G>A (p.Trp1049Ter)
|
rs863225340
|
|
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer)
|
rs587779352
|
|
NM_000038.6(APC):c.3190G>T (p.Glu1064Ter)
|
rs1462312032
|
|
NM_000038.6(APC):c.3202_3205del (p.Ser1068fs)
|
rs587779353
|
|
NM_000038.6(APC):c.325G>T (p.Glu109Ter)
|
rs1414406816
|
|
NM_000038.6(APC):c.3260_3263dup (p.Lys1088fs)
|
rs2149888223
|
|
NM_000038.6(APC):c.3329C>G (p.Ser1110Ter)
|
rs1580634079
|
|
NM_000038.6(APC):c.3340C>T (p.Arg1114Ter)
|
rs121913331
|
|
NM_000038.6(APC):c.3342A>G (p.Arg1114=)
|
rs786201145
|
|
NM_000038.6(APC):c.3411del (p.Asp1137fs)
|
rs2149891392
|
|
NM_000038.6(APC):c.3444_3447del (p.Glu1149fs)
|
rs1554085005
|
|
NM_000038.6(APC):c.3454C>T (p.Gln1152Ter)
|
rs1064795228
|
|
NM_000038.6(APC):c.3467_3470del (p.Glu1156fs)
|
rs1554085029
|
|
NM_000038.6(APC):c.346_359del (p.Gly116fs)
|
rs1554069805
|
|
NM_000038.6(APC):c.3470dup (p.Arg1158fs)
|
rs2149892641
|
|
NM_000038.6(APC):c.3497_3501del (p.Lys1165_Tyr1166insTer)
|
rs1554085053
|
|
NM_000038.6(APC):c.3542T>A (p.Leu1181Ter)
|
rs1554085102
|
|
NM_000038.6(APC):c.3567dup (p.Ser1190fs)
|
rs1554085117
|
|
NM_000038.6(APC):c.3682C>T (p.Gln1228Ter)
|
rs1554085227
|
|
NM_000038.6(APC):c.3709_3710del (p.Gln1237fs)
|
rs1554085246
|
|
NM_000038.6(APC):c.3713del (p.Ser1238fs)
|
rs2149897565
|
|
NM_000038.6(APC):c.3725del (p.Gln1242fs)
|
rs1554085258
|
|
NM_000038.6(APC):c.3766C>T (p.Gln1256Ter)
|
rs77056664
|
|
NM_000038.6(APC):c.3786T>A (p.Tyr1262Ter)
|
rs147411334
|
|
NM_000038.6(APC):c.3786_3787del (p.Tyr1262_Cys1263delinsTer)
|
rs1554085307
|
|
NM_000038.6(APC):c.3827_3829del (p.Ser1276del)
|
rs2149899835
|
|
NM_000038.6(APC):c.3827_3829delinsA (p.Ser1276fs)
|
rs1554085335
|
|
NM_000038.6(APC):c.3847del (p.Ala1283fs)
|
rs2149900353
|
|
NM_000038.6(APC):c.387_388insT (p.Ser130Ter)
|
rs2149789666
|
|
NM_000038.6(APC):c.3901dup (p.Thr1301fs)
|
rs1554085382
|
|
NM_000038.6(APC):c.3920_3924del (p.Ile1307fs)
|
rs1064794229
|
|
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs)
|
rs121913224
|
|
NM_000038.6(APC):c.3982C>T (p.Gln1328Ter)
|
rs398123121
|
|
NM_000038.6(APC):c.4022_4026del (p.Ser1341fs)
|
rs2149904284
|
|
NM_000038.6(APC):c.4060delinsAA (p.Phe1354fs)
|
rs1554085479
|
|
NM_000038.6(APC):c.4138A>G (p.Thr1380Ala)
|
rs2149907365
|
|
NM_000038.6(APC):c.4142C>G (p.Pro1381Arg)
|
rs2149907480
|
|
NM_000038.6(APC):c.4161T>A (p.Cys1387Ter)
|
rs2149907906
|
|
NM_000038.6(APC):c.4164_4165del (p.Ser1389fs)
|
rs2149908008
|
|
NM_000038.6(APC):c.4212C>T (p.Ser1404=)
|
rs144655979
|
|
NM_000038.6(APC):c.423-17_423-16del
|
rs2149614121
|
|
NM_000038.6(APC):c.423-1G>A
|
rs397514031
|
|
NM_000038.6(APC):c.423-3T>A
|
rs587782293
|
|
NM_000038.6(APC):c.423-3_531+198del
|
rs2149614301
|
|
NM_000038.6(APC):c.423-4del
|
rs730881230
|
|
NM_000038.6(APC):c.423-8A>G
|
rs2149614206
|
|
NM_000038.6(APC):c.423G>T (p.Arg141Ser)
|
rs863224458
|
|
NM_000038.6(APC):c.4241del (p.Val1414fs)
|
rs1554085659
|
|
NM_000038.6(APC):c.4261A>G (p.Ser1421Gly)
|
rs1303200783
|
|
NM_000038.6(APC):c.4268_4271del (p.Leu1423fs)
|
rs2149910406
|
|
NM_000038.6(APC):c.426_427del (p.Leu143fs)
|
rs587782557
|
|
NM_000038.6(APC):c.4353del (p.Val1452fs)
|
rs1554085817
|
|
NM_000038.6(APC):c.4384_4385del (p.Lys1462fs)
|
rs1554085846
|
|
NM_000038.6(APC):c.4391_4394del (p.Glu1464fs)
|
rs387906234
|
|
NM_000038.6(APC):c.4393_4394del (p.Ser1465fs)
|
rs387906234
|
|
NM_000038.6(APC):c.4405C>T (p.Gln1469Ter)
|
rs1060503288
|
|
NM_000038.6(APC):c.442del (p.Asp149fs)
|
rs2149614716
|
|
NM_000038.6(APC):c.4526_4527insTT (p.Leu1509_Ser1510insTer)
|
rs2149916812
|
|
NM_000038.6(APC):c.453del (p.Glu152fs)
|
rs863224820
|
|
NM_000038.6(APC):c.458del (p.Lys153fs)
|
rs1554071521
|
|
NM_000038.6(APC):c.4606G>T (p.Glu1536Ter)
|
rs1554086001
|
|
NM_000038.6(APC):c.4645C>T (p.Gln1549Ter)
|
rs863225357
|
|
NM_000038.6(APC):c.4645dup (p.Gln1549fs)
|
rs1554086036
|
|
NM_000038.6(APC):c.4660G>T (p.Glu1554Ter)
|
rs1392778905
|
|
NM_000038.6(APC):c.4666dup (p.Thr1556fs)
|
rs587783031
|
|
NM_000038.6(APC):c.4671del (p.Ile1557fs)
|
rs1554086084
|
|
NM_000038.6(APC):c.4726G>T (p.Glu1576Ter)
|
rs1554086134
|
|
NM_000038.6(APC):c.472dup (p.Tyr158fs)
|
rs1554071555
|
|
NM_000038.6(APC):c.4735_4736del (p.Ile1579fs)
|
rs1554086138
|
|
NM_000038.6(APC):c.4782_4785del (p.Ala1595fs)
|
rs1554086196
|
|
NM_000038.6(APC):c.487C>T (p.Gln163Ter)
|
rs863225362
|
|
NM_000038.6(APC):c.492_495del (p.Asn164fs)
|
rs1554071590
|
|
NM_000038.6(APC):c.4945dup (p.Ile1649fs)
|
rs2149928153
|
|
NM_000038.6(APC):c.4953_4954del (p.Ser1652fs)
|
rs1554086327
|
|
NM_000038.6(APC):c.5017G>T (p.Glu1673Ter)
|
rs587779796
|
|
NM_000038.6(APC):c.502del (p.Arg168fs)
|
rs1554071602
|
|
NM_000038.6(APC):c.5038C>G (p.Gln1680Glu)
|
rs754122018
|
|
NM_000038.6(APC):c.509_512del (p.Asp170fs)
|
rs387906231
|
|
NM_000038.6(APC):c.5250C>T (p.Val1750=)
|
rs2229997
|
|
NM_000038.6(APC):c.52A>G (p.Met18Val)
|
rs587782402
|
|
NM_000038.6(APC):c.532-14_532-12del
|
rs765893314
|
|
NM_000038.6(APC):c.532-8G>A
|
rs1060503323
|
|
NM_000038.6(APC):c.539T>A (p.Leu180Ter)
|
rs1554072560
|
|
NM_000038.6(APC):c.547_548del (p.Asp183fs)
|
rs1758238807
|
|
NM_000038.6(APC):c.5496T>C (p.Asp1832=)
|
rs1561600562
|
|
NM_000038.6(APC):c.5541del (p.Pro1848fs)
|
rs1554086805
|
|
NM_000038.6(APC):c.562C>T (p.Gln188Ter)
|
rs869312753
|
|
NM_000038.6(APC):c.5684C>T (p.Thr1895Ile)
|
rs752605851
|
|
NM_000038.6(APC):c.5782del (p.Gln1928fs)
|
rs2149949090
|
|
NM_000038.6(APC):c.580del (p.Arg194fs)
|
rs2149639796
|
|
NM_000038.6(APC):c.5931A>G (p.Gln1977=)
|
rs975299630
|
|
NM_000038.6(APC):c.594dup (p.Ala199fs)
|
rs1554072616
|
|
NM_000038.6(APC):c.5978del (p.Pro1993fs)
|
rs1554087123
|
|
NM_000038.6(APC):c.604del (p.Glu202fs)
|
rs2149640346
|
|
NM_000038.6(APC):c.6057_6058dup (p.Cys2020fs)
|
rs2149955920
|
|
NM_000038.6(APC):c.6061_6062dup (p.Arg2023fs)
|
rs2149956016
|
|
NM_000038.6(APC):c.6081C>T (p.Leu2027=)
|
rs1316220949
|
|
NM_000038.6(APC):c.6135del (p.Ala2046fs)
|
rs1554087239
|
|
NM_000038.6(APC):c.620G>A (p.Cys207Tyr)
|
rs1268298845
|
|
NM_000038.6(APC):c.6271G>A (p.Gly2091Ser)
|
rs745308565
|
|
NM_000038.6(APC):c.6278C>A (p.Ser2093Tyr)
|
rs879254172
|
|
NM_000038.6(APC):c.6354TGC[5] (p.Ala2122dup)
|
rs587780602
|
|
NM_000038.6(APC):c.637C>T (p.Arg213Ter)
|
rs587781392
|
|
NM_000038.6(APC):c.6431T>C (p.Leu2144Pro)
|
rs786203880
|
|
NM_000038.6(APC):c.645+1G>A
|
rs863225370
|
|
NM_000038.6(APC):c.646-1G>C
|
rs78847145
|
|
NM_000038.6(APC):c.667C>T (p.Gln223Ter)
|
rs1554074738
|
|
NM_000038.6(APC):c.6830C>G (p.Ser2277Cys)
|
rs1554087778
|
|
NM_000038.6(APC):c.685delinsTT (p.Leu229fs)
|
rs1554074762
|
|
NM_000038.6(APC):c.6907G>A (p.Gly2303Arg)
|
rs544549596
|
|
NM_000038.6(APC):c.694C>T (p.Arg232Ter)
|
rs397515734
|
|
NM_000038.6(APC):c.706C>T (p.Gln236Ter)
|
rs1554074786
|
|
NM_000038.6(APC):c.730-1G>C
|
rs1554076129
|
|
NM_000038.6(APC):c.7399C>T (p.Pro2467Ser)
|
rs372305287
|
|
NM_000038.6(APC):c.777G>T (p.Arg259=)
|
rs147704593
|
|
NM_000038.6(APC):c.7838G>A (p.Arg2613Lys)
|
rs1554088693
|
|
NM_000038.6(APC):c.7869A>G (p.Thr2623=)
|
rs775126492
|
|
NM_000038.6(APC):c.7879T>A (p.Ser2627Thr)
|
rs1580687626
|
|
NM_000038.6(APC):c.7942G>T (p.Ala2648Ser)
|
rs1195417407
|
|
NM_000038.6(APC):c.7960del (p.Thr2654fs)
|
rs1305971005
|
|
NM_000038.6(APC):c.7966G>T (p.Asp2656Tyr)
|
rs1554088797
|
|
NM_000038.6(APC):c.834+1G>A
|
rs1554076225
|
|
NM_000038.6(APC):c.835-1G>A
|
rs2149762252
|
|
NM_000038.6(APC):c.835-7T>G
|
rs1554079128
|
|
NM_000038.6(APC):c.839C>G (p.Ser280Ter)
|
rs137854569
|
|
NM_000038.6(APC):c.841A>G (p.Thr281Ala)
|
rs769727966
|
|
NM_000038.6(APC):c.841dup (p.Thr281fs)
|
rs2149762397
|
|
NM_000038.6(APC):c.847C>T (p.Arg283Ter)
|
rs786201856
|
|
NM_000038.6(APC):c.893_894del (p.His298fs)
|
rs1114167567
|
|
NM_000038.6(APC):c.904C>T (p.Arg302Ter)
|
rs137854568
|
|
NM_000038.6(APC):c.937_938del (p.Glu313fs)
|
rs387906239
|
|
NM_000038.6(APC):c.989del (p.Met330fs)
|
rs1561540666
|
|
NM_000038.6(APC):c.994C>T (p.Arg332Ter)
|
rs775126020
|
|
NM_000044.6(AR):c.171GCA[24] (p.Gln80dup)
|
rs3032358
|
|
NM_000044.6(AR):c.171GCA[28] (p.Gln76_Gln80dup)
|
rs3032358
|
|
NM_000046.5(ARSB):c.101C>T (p.Pro34Leu)
|
rs1753125870
|
|
NM_000051.4(ATM):c.1215del (p.Asn405fs)
|
rs1555069815
|
|
NM_000051.4(ATM):c.1296G>C (p.Leu432=)
|
rs876658894
|
|
NM_000051.4(ATM):c.1380G>C (p.Thr460=)
|
rs145333518
|
|
NM_000051.4(ATM):c.1431G>C (p.Lys477Asn)
|
rs1555070941
|
|
NM_000051.4(ATM):c.1467T>C (p.Cys489=)
|
rs1591524178
|
|
NM_000051.4(ATM):c.1531A>G (p.Ile511Val)
|
rs1591524572
|
|
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs)
|
rs587779817
|
|
NM_000051.4(ATM):c.1657G>A (p.Gly553Arg)
|
rs1591527438
|
|
NM_000051.4(ATM):c.1849A>G (p.Met617Val)
|
rs1555072530
|
|
NM_000051.4(ATM):c.186A>G (p.Arg62=)
|
rs876658224
|
|
NM_000051.4(ATM):c.1A>G (p.Met1Val)
|
rs730881359
|
|
NM_000051.4(ATM):c.2158C>T (p.Arg720Cys)
|
rs565622131
|
|
NM_000051.4(ATM):c.2284_2285del (p.Leu762fs)
|
rs587781658
|
|
NM_000051.4(ATM):c.2380A>T (p.Ser794Cys)
|
rs876658149
|
|
NM_000051.4(ATM):c.2442C>A (p.Asp814Glu)
|
rs3218695
|
|
NM_000051.4(ATM):c.2463T>G (p.Ser821Arg)
|
rs864622412
|
|
NM_000051.4(ATM):c.2502dup (p.Val835fs)
|
rs587779822
|
|
NM_000051.4(ATM):c.2650C>G (p.Pro884Ala)
|
rs1591593623
|
|
NM_000051.4(ATM):c.2805G>C (p.Thr935=)
|
rs55934812
|
|
NM_000051.4(ATM):c.2839-4T>C
|
rs1057522619
|
|
NM_000051.4(ATM):c.2873A>G (p.Glu958Gly)
|
rs587778069
|
|
NM_000051.4(ATM):c.291C>T (p.Ile97=)
|
rs746762110
|
|
NM_000051.4(ATM):c.2988T>G (p.His996Gln)
|
rs559676197
|
|
NM_000051.4(ATM):c.3059C>T (p.Thr1020Ile)
|
rs186626274
|
|
NM_000051.4(ATM):c.3077+15T>C
|
rs1555085277
|
|
NM_000051.4(ATM):c.3080A>G (p.His1027Arg)
|
rs786204217
|
|
NM_000051.4(ATM):c.3154-4G>A
|
rs199543313
|
|
NM_000051.4(ATM):c.3403-14_3403-13insG
|
rs1555091097
|
|
NM_000051.4(ATM):c.3403-15_3403-14dup
|
rs2135664759
|
|
NM_000051.4(ATM):c.3403-1_3577-680del
|
|
|
NM_000051.4(ATM):c.3604G>T (p.Gly1202Ter)
|
rs536110861
|
|
NM_000051.4(ATM):c.3754T>C (p.Tyr1252His)
|
rs2135704307
|
|
NM_000051.4(ATM):c.3754_3756delinsCA (p.Tyr1252fs)
|
rs786201886
|
|
NM_000051.4(ATM):c.3756del (p.Cys1251_Tyr1252insTer)
|
rs2135704461
|
|
NM_000051.4(ATM):c.3772C>A (p.His1258Asn)
|
rs587782741
|
|
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer)
|
rs587779834
|
|
NM_000051.4(ATM):c.3851C>T (p.Thr1284Ile)
|
rs1200767902
|
|
NM_000051.4(ATM):c.3919G>A (p.Gly1307Arg)
|
rs568451087
|
|
NM_000051.4(ATM):c.3961A>G (p.Met1321Val)
|
rs730881366
|
|
NM_000051.4(ATM):c.411C>A (p.Tyr137Ter)
|
rs756160533
|
|
NM_000051.4(ATM):c.4239T>C (p.Asp1413=)
|
rs1565455938
|
|
NM_000051.4(ATM):c.4242C>G (p.Ser1414=)
|
rs2135759239
|
|
NM_000051.4(ATM):c.4373del (p.Gly1458fs)
|
rs587781653
|
|
NM_000051.4(ATM):c.4396C>T (p.Arg1466Ter)
|
rs730881369
|
|
NM_000051.4(ATM):c.4642_4645del (p.Asp1548fs)
|
rs876659535
|
|
NM_000051.4(ATM):c.4674_4695del (p.Ile1559fs)
|
rs2135811484
|
|
NM_000051.4(ATM):c.4753A>G (p.Arg1585Gly)
|
rs781275128
|
|
NM_000051.4(ATM):c.5006-14A>C
|
rs2083314877
|
|
NM_000051.4(ATM):c.5034G>C (p.Val1678=)
|
rs1555104548
|
|
NM_000051.4(ATM):c.5036G>A (p.Gly1679Asp)
|
rs1064794124
|
|
NM_000051.4(ATM):c.5178-11G>A
|
rs200876654
|
|
NM_000051.4(ATM):c.5229A>G (p.Thr1743=)
|
rs878853519
|
|
NM_000051.4(ATM):c.5267C>G (p.Thr1756Arg)
|
rs786203369
|
|
NM_000051.4(ATM):c.5288A>C (p.Tyr1763Ser)
|
rs1555105780
|
|
NM_000051.4(ATM):c.5300T>G (p.Phe1767Cys)
|
rs864622125
|
|
NM_000051.4(ATM):c.5402A>G (p.Asn1801Ser)
|
rs1555106445
|
|
NM_000051.4(ATM):c.5416del (p.Trp1805_Ile1806insTer)
|
rs879254041
|
|
NM_000051.4(ATM):c.5443del (p.Asp1815fs)
|
rs878853522
|
|
NM_000051.4(ATM):c.5600A>G (p.Gln1867Arg)
|
rs1555107457
|
|
NM_000051.4(ATM):c.5624G>C (p.Arg1875Pro)
|
rs762304746
|
|
NM_000051.4(ATM):c.5652A>G (p.Thr1884=)
|
rs1591718571
|
|
NM_000051.4(ATM):c.5675-4T>A
|
rs56075338
|
|
NM_000051.4(ATM):c.5712dup (p.Ser1905fs)
|
rs587781730
|
|
NM_000051.4(ATM):c.5918+3A>G
|
rs1555110595
|
|
NM_000051.4(ATM):c.5961T>C (p.Ser1987=)
|
rs1060504265
|
|
NM_000051.4(ATM):c.6095+6T>C
|
rs1057522992
|
|
NM_000051.4(ATM):c.611G>T (p.Gly204Val)
|
rs1555066451
|
|
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp)
|
rs397514577
|
|
NM_000051.4(ATM):c.6335G>A (p.Cys2112Tyr)
|
rs1591790360
|
|
NM_000051.4(ATM):c.6453-5A>G
|
rs755177899
|
|
NM_000051.4(ATM):c.6608T>C (p.Ile2203Thr)
|
rs2085553784
|
|
NM_000051.4(ATM):c.6780A>G (p.Ile2260Met)
|
rs1555119325
|
|
NM_000051.4(ATM):c.6860G>A (p.Gly2287Glu)
|
rs1800061
|
|
NM_000051.4(ATM):c.6898T>G (p.Trp2300Gly)
|
rs1565520641
|
|
NM_000051.4(ATM):c.6916_6917del (p.Leu2307fs)
|
rs878853535
|
|
NM_000051.4(ATM):c.6975+13dup
|
rs763287238
|
|
NM_000051.4(ATM):c.6975G>C (p.Ala2325=)
|
rs556778314
|
|
NM_000051.4(ATM):c.7164C>A (p.Leu2388=)
|
rs1239532344
|
|
NM_000051.4(ATM):c.7466C>A (p.Ser2489Tyr)
|
rs759728261
|
|
NM_000051.4(ATM):c.748C>A (p.Arg250=)
|
rs772821016
|
|
NM_000051.4(ATM):c.7567T>C (p.Leu2523=)
|
rs1565532289
|
|
NM_000051.4(ATM):c.7629+13G>A
|
rs563651647
|
|
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del)
|
rs587776547
|
|
NM_000051.4(ATM):c.7654C>A (p.His2552Asn)
|
rs786202174
|
|
NM_000051.4(ATM):c.7788+1G>T
|
rs1565534524
|
|
NM_000051.4(ATM):c.7885A>G (p.Ile2629Val)
|
rs2136569929
|
|
NM_000051.4(ATM):c.7927+13dup
|
rs587781324
|
|
NM_000051.4(ATM):c.7928-10T>G
|
rs188404773
|
|
NM_000051.4(ATM):c.8015A>C (p.Asp2672Ala)
|
rs763161651
|
|
NM_000051.4(ATM):c.8082A>C (p.Gly2694=)
|
rs540266635
|
|
NM_000051.4(ATM):c.8083G>T (p.Gly2695Cys)
|
rs1555127166
|
|
NM_000051.4(ATM):c.8288del (p.Arg2763fs)
|
rs886039630
|
|
NM_000051.4(ATM):c.8418+5_8418+8del
|
rs730881295
|
|
NM_000051.4(ATM):c.8597T>C (p.Leu2866Pro)
|
rs1555139517
|
|
NM_000051.4(ATM):c.8644_8647del (p.Ser2882fs)
|
rs2137083265
|
|
NM_000051.4(ATM):c.8655dup (p.Val2886fs)
|
rs753961188
|
|
NM_000051.4(ATM):c.8672-3T>G
|
rs1060501550
|
|
NM_000051.4(ATM):c.87A>G (p.Lys29=)
|
rs1591446799
|
|
NM_000051.4(ATM):c.8850+12dup
|
rs1555143639
|
|
NM_000051.4(ATM):c.8893T>C (p.Leu2965=)
|
rs1060504287
|
|
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter)
|
rs770641163
|
|
NM_000051.4(ATM):c.9169T>G (p.Ter3057Gly)
|
rs2091262473
|
|
NM_000051.4(ATM):c.928A>G (p.Ser310Gly)
|
rs745773225
|
|
NM_000053.4(ATP7B):c.-123_-119dupCGCCG
|
rs148013251
|
|
NM_000053.4(ATP7B):c.1030C>T (p.His344Tyr)
|
rs2140077548
|
|
NM_000053.4(ATP7B):c.51+3G>A
|
rs2140766975
|
|
NM_000057.4(BLM):c.865A>T (p.Ile289Phe)
|
rs1895693953
|
|
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs)
|
rs80359351
|
|
NM_000059.3(BRCA2):c.3683delinsGG (p.Asn1228fs)
|
rs1555283361
|
|
NM_000059.3(BRCA2):c.517-?_631+?del
|
|
|
NM_000059.3(BRCA2):c.68_316del249 (p.Asp23_Leu105del)
|
|
|
NM_000059.3(BRCA2):c.9403del (p.Leu3135fs)
|
rs80359760
|
|
NM_000059.4(BRCA2):c.-10G>A
|
rs754814638
|
|
NM_000059.4(BRCA2):c.-39-12_-39-10del
|
rs276174798
|
|
NM_000059.4(BRCA2):c.-50_-48del
|
rs1555279965
|
|
NM_000059.4(BRCA2):c.10082A>C (p.Gln3361Pro)
|
rs751250810
|
|
NM_000059.4(BRCA2):c.10095C>T (p.Val3365=)
|
rs1060504607
|
|
NM_000059.4(BRCA2):c.10095delinsGAATTATATCT (p.Ser3366fs)
|
rs276174803
|
|
NM_000059.4(BRCA2):c.10131A>C (p.Glu3377Asp)
|
rs1064793835
|
|
NM_000059.4(BRCA2):c.10186A>C (p.Ser3396Arg)
|
rs1555290062
|
|
NM_000059.4(BRCA2):c.10195G>T (p.Ala3399Ser)
|
rs1057521734
|
|
NM_000059.4(BRCA2):c.10220A>G (p.Asn3407Ser)
|
rs80358401
|
|
NM_000059.4(BRCA2):c.10230C>A (p.Asp3410Glu)
|
rs80358404
|
|
NM_000059.4(BRCA2):c.10232C>T (p.Thr3411Ile)
|
rs864622402
|
|
NM_000059.4(BRCA2):c.10235T>G (p.Ile3412Ser)
|
rs1057524418
|
|
NM_000059.4(BRCA2):c.1054dup (p.Tyr352fs)
|
rs80359261
|
|
NM_000059.4(BRCA2):c.1103C>A (p.Ser368Ter)
|
rs80358407
|
|
NM_000059.4(BRCA2):c.1110A>G (p.Val370=)
|
rs1566222766
|
|
NM_000059.4(BRCA2):c.112G>A (p.Glu38Lys)
|
rs1555280344
|
|
NM_000059.4(BRCA2):c.1166C>A (p.Pro389Gln)
|
rs397507263
|
|
NM_000059.4(BRCA2):c.1211A>T (p.Asn404Ile)
|
rs80358414
|
|
NM_000059.4(BRCA2):c.1216_1219delinsACCG (p.Ala406_Gln407delinsThrGlu)
|
rs886037742
|
|
NM_000059.4(BRCA2):c.1255T>C (p.Cys419Arg)
|
rs876658829
|
|
NM_000059.4(BRCA2):c.1257del (p.Cys419fs)
|
rs80359272
|
|
NM_000059.4(BRCA2):c.1265del (p.Asn422fs)
|
rs80359273
|
|
NM_000059.4(BRCA2):c.1296_1297del (p.Asn433fs)
|
rs80359276
|
|
NM_000059.4(BRCA2):c.1300A>C (p.Lys434Gln)
|
rs2137469817
|
|
NM_000059.4(BRCA2):c.1309_1909+1dup
|
rs2137469915
|
|
NM_000059.4(BRCA2):c.1310_1313del (p.Lys437fs)
|
rs80359277
|
|
NM_000059.4(BRCA2):c.1333dup (p.Ser445fs)
|
rs1555281841
|
|
NM_000059.4(BRCA2):c.1368_1369dup (p.Lys457fs)
|
rs397507583
|
|
NM_000059.4(BRCA2):c.1376T>G (p.Leu459Ter)
|
rs587781799
|
|
NM_000059.4(BRCA2):c.1389del (p.Val464fs)
|
rs397507584
|
|
NM_000059.4(BRCA2):c.1405_1406del (p.Arg468_Asp469insTer)
|
rs397507586
|
|
NM_000059.4(BRCA2):c.1459G>T (p.Ala487Ser)
|
rs1555281914
|
|
NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter)
|
rs80358435
|
|
NM_000059.4(BRCA2):c.1460C>A (p.Ala487Glu)
|
rs56390402
|
|
NM_000059.4(BRCA2):c.1462A>C (p.Ile488Leu)
|
rs864622352
|
|
NM_000059.4(BRCA2):c.1478C>T (p.Pro493Leu)
|
rs786202916
|
|
NM_000059.4(BRCA2):c.1482G>T (p.Val494=)
|
rs1060502387
|
|
NM_000059.4(BRCA2):c.1501A>G (p.Ile501Val)
|
rs1555281924
|
|
NM_000059.4(BRCA2):c.1560_1561del (p.Ser521fs)
|
rs886040374
|
|
NM_000059.4(BRCA2):c.1594G>A (p.Glu532Lys)
|
rs138734772
|
|
NM_000059.4(BRCA2):c.1627C>A (p.His543Asn)
|
rs80358446
|
|
NM_000059.4(BRCA2):c.1670T>G (p.Leu557Ter)
|
rs80358452
|
|
NM_000059.4(BRCA2):c.1672A>G (p.Ile558Val)
|
rs759415233
|
|
NM_000059.4(BRCA2):c.1689G>A (p.Trp563Ter)
|
rs80358456
|
|
NM_000059.4(BRCA2):c.1709A>G (p.Asn570Ser)
|
rs431825284
|
|
NM_000059.4(BRCA2):c.1773_1776del (p.Ile591fs)
|
rs80359304
|
|
NM_000059.4(BRCA2):c.1794_1798del
|
rs276174813
|
|
NM_000059.4(BRCA2):c.1806A>T (p.Gly602=)
|
rs876658692
|
|
NM_000059.4(BRCA2):c.1813del (p.Ile605fs)
|
rs80359306
|
|
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs)
|
rs80359306
|
|
NM_000059.4(BRCA2):c.1815dup (p.Pro606fs)
|
rs80359310
|
|
NM_000059.4(BRCA2):c.1826A>G (p.Gln609Arg)
|
rs80358473
|
|
NM_000059.4(BRCA2):c.1832C>A (p.Ser611Ter)
|
rs80358474
|
|
NM_000059.4(BRCA2):c.1855C>T (p.Gln619Ter)
|
rs80358476
|
|
NM_000059.4(BRCA2):c.1859_1865del (p.Gln619_Phe620insTer)
|
rs2137475769
|
|
NM_000059.4(BRCA2):c.1875T>A (p.Phe625Leu)
|
rs80358478
|
|
NM_000059.4(BRCA2):c.1889_1890dup (p.Phe631fs)
|
rs1555282148
|
|
NM_000059.4(BRCA2):c.1901del (p.Ala634fs)
|
rs397507614
|
|
NM_000059.4(BRCA2):c.1909+1G>A
|
rs587781629
|
|
NM_000059.4(BRCA2):c.1909+22dup
|
rs276174816
|
|
NM_000059.4(BRCA2):c.1909+9_1909+10del
|
rs527732001
|
|
NM_000059.4(BRCA2):c.1910-1G>A
|
rs1566225769
|
|
NM_000059.4(BRCA2):c.1929del (p.Arg645fs)
|
rs80359316
|
|
NM_000059.4(BRCA2):c.1951G>T (p.Asp651Tyr)
|
rs80358482
|
|
NM_000059.4(BRCA2):c.1964del (p.Pro655fs)
|
rs1555282375
|
|
NM_000059.4(BRCA2):c.2093_2095del (p.Leu698del)
|
rs1555282435
|
|
NM_000059.4(BRCA2):c.2095C>T (p.Gln699Ter)
|
rs878853559
|
|
NM_000059.4(BRCA2):c.2211A>G (p.Ala737=)
|
rs587780647
|
|
NM_000059.4(BRCA2):c.2240A>G (p.Glu747Gly)
|
rs397507283
|
|
NM_000059.4(BRCA2):c.2244C>T (p.Tyr748=)
|
rs1555282563
|
|
NM_000059.4(BRCA2):c.2330dup (p.Asp777fs)
|
rs80359328
|
|
NM_000059.4(BRCA2):c.2339C>G (p.Ser780Ter)
|
rs587781471
|
|
NM_000059.4(BRCA2):c.2357C>G (p.Ser786Cys)
|
rs80358501
|
|
NM_000059.4(BRCA2):c.2398_2423dup (p.Leu809fs)
|
rs1555282658
|
|
NM_000059.4(BRCA2):c.2409T>G (p.Tyr803Ter)
|
rs80358504
|
|
NM_000059.4(BRCA2):c.240A>T (p.Ile80=)
|
rs80358505
|
|
NM_000059.4(BRCA2):c.246del (p.Glu83fs)
|
rs397507630
|
|
NM_000059.4(BRCA2):c.2562C>T (p.Asn854=)
|
rs1555282746
|
|
NM_000059.4(BRCA2):c.2588dup (p.Asn863fs)
|
rs80359335
|
|
NM_000059.4(BRCA2):c.2593G>T (p.Glu865Ter)
|
rs587782014
|
|
NM_000059.4(BRCA2):c.2598A>G (p.Glu866=)
|
rs587780549
|
|
NM_000059.4(BRCA2):c.2604T>C (p.Thr868=)
|
rs1428997179
|
|
NM_000059.4(BRCA2):c.2606C>T (p.Ser869Leu)
|
rs80358523
|
|
NM_000059.4(BRCA2):c.2653_2656del (p.Asp885fs)
|
rs80359340
|
|
NM_000059.4(BRCA2):c.2677C>T (p.Gln893Ter)
|
rs1555282790
|
|
NM_000059.4(BRCA2):c.26del (p.Pro9fs)
|
rs80359343
|
|
NM_000059.4(BRCA2):c.2747G>T (p.Cys916Phe)
|
rs2072463871
|
|
NM_000059.4(BRCA2):c.2748del (p.Cys916fs)
|
rs886040443
|
|
NM_000059.4(BRCA2):c.274C>T (p.Gln92Ter)
|
rs80358529
|
|
NM_000059.4(BRCA2):c.2758C>A (p.Pro920Thr)
|
rs397507293
|
|
NM_000059.4(BRCA2):c.2765T>G (p.Phe922Cys)
|
rs1555282838
|
|
NM_000059.4(BRCA2):c.276dup (p.Ser93fs)
|
rs80359345
|
|
NM_000059.4(BRCA2):c.2786del (p.Leu929fs)
|
rs80359347
|
|
NM_000059.4(BRCA2):c.2803G>C (p.Asp935His)
|
rs28897716
|
|
NM_000059.4(BRCA2):c.2834_2835del (p.Lys945fs)
|
rs80359356
|
|
NM_000059.4(BRCA2):c.2857GAG[1] (p.Glu954del)
|
rs80359360
|
|
NM_000059.4(BRCA2):c.2870del (p.Asn957fs)
|
rs397507645
|
|
NM_000059.4(BRCA2):c.2875G>A (p.Val959Ile)
|
rs1555282921
|
|
NM_000059.4(BRCA2):c.2886dup (p.Ile963fs)
|
rs2072467270
|
|
NM_000059.4(BRCA2):c.2892A>T (p.Lys964Asn)
|
rs587778119
|
|
NM_000059.4(BRCA2):c.2926_2927delinsAT (p.Ser976Ile)
|
rs276174831
|
|
NM_000059.4(BRCA2):c.2957dup (p.Asn986fs)
|
rs80359365
|
|
NM_000059.4(BRCA2):c.2962G>A (p.Asp988Asn)
|
rs1593898237
|
|
NM_000059.4(BRCA2):c.2999T>C (p.Ile1000Thr)
|
rs374769365
|
|
NM_000059.4(BRCA2):c.3003A>T (p.Ser1001=)
|
rs786203591
|
|
NM_000059.4(BRCA2):c.3071_3073del (p.Ile1024del)
|
rs754836679
|
|
NM_000059.4(BRCA2):c.3075_3076delinsTT (p.Lys1025_Lys1026delinsAsnTer)
|
rs587779362
|
|
NM_000059.4(BRCA2):c.3109C>T (p.Gln1037Ter)
|
rs80358557
|
|
NM_000059.4(BRCA2):c.3116C>T (p.Pro1039Leu)
|
rs867544010
|
|
NM_000059.4(BRCA2):c.3119del (p.Thr1040fs)
|
rs2137493409
|
|
NM_000059.4(BRCA2):c.314T>G (p.Leu105Ter)
|
rs80358561
|
|
NM_000059.4(BRCA2):c.317-133dup
|
rs1261138781
|
|
NM_000059.4(BRCA2):c.317-15A>G
|
rs1555280835
|
|
NM_000059.4(BRCA2):c.3170_3174del (p.Lys1057fs)
|
rs80359373
|
|
NM_000059.4(BRCA2):c.3215dup (p.Leu1072fs)
|
rs2072475243
|
|
NM_000059.4(BRCA2):c.3224G>A (p.Ser1075Asn)
|
rs2137494493
|
|
NM_000059.4(BRCA2):c.3249T>C (p.Asn1083=)
|
rs876659029
|
|
NM_000059.4(BRCA2):c.32T>G (p.Phe11Cys)
|
rs2138698291
|
|
NM_000059.4(BRCA2):c.3308del (p.Asn1102_Leu1103insTer)
|
rs1555283160
|
|
NM_000059.4(BRCA2):c.3318C>G (p.Ser1106Arg)
|
rs1298550035
|
|
NM_000059.4(BRCA2):c.3328G>T (p.Glu1110Ter)
|
rs1555283173
|
|
NM_000059.4(BRCA2):c.3339del (p.Glu1113fs)
|
rs2137495606
|
|
NM_000059.4(BRCA2):c.3344del (p.Ser1115fs)
|
rs1135401900
|
|
NM_000059.4(BRCA2):c.3362C>G (p.Ser1121Ter)
|
rs80358579
|
|
NM_000059.4(BRCA2):c.3368G>A (p.Ser1123Asn)
|
rs1555283202
|
|
NM_000059.4(BRCA2):c.3380T>G (p.Phe1127Cys)
|
rs2137495989
|
|
NM_000059.4(BRCA2):c.3409T>C (p.Leu1137=)
|
rs1054724641
|
|
NM_000059.4(BRCA2):c.3449C>T (p.Thr1150Ile)
|
rs730881524
|
|
NM_000059.4(BRCA2):c.3453del (p.Ile1151_Leu1152insTer)
|
rs397507670
|
|
NM_000059.4(BRCA2):c.3454_3455del (p.Leu1152fs)
|
rs1555283251
|
|
NM_000059.4(BRCA2):c.3455T>G (p.Leu1152Ter)
|
rs80358593
|
|
NM_000059.4(BRCA2):c.3481_3491del (p.Asp1161fs)
|
rs1555283262
|
|
NM_000059.4(BRCA2):c.3497T>A (p.Val1166Asp)
|
rs762886975
|
|
NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer)
|
rs80359388
|
|
NM_000059.4(BRCA2):c.3556G>A (p.Val1186Ile)
|
rs587782420
|
|
NM_000059.4(BRCA2):c.3573G>A (p.Lys1191=)
|
rs1555283294
|
|
NM_000059.4(BRCA2):c.3578C>T (p.Ala1193Val)
|
rs431825310
|
|
NM_000059.4(BRCA2):c.3596A>G (p.Asp1199Gly)
|
rs2137498177
|
|
NM_000059.4(BRCA2):c.3599_3600del (p.Asp1199_Cys1200insTer)
|
rs80359391
|
|
NM_000059.4(BRCA2):c.3630T>C (p.Asp1210=)
|
rs786202991
|
|
NM_000059.4(BRCA2):c.364A>G (p.Thr122Ala)
|
rs1218108009
|
|
NM_000059.4(BRCA2):c.3683_3684insG (p.Asn1228fs)
|
rs2137498985
|
|
NM_000059.4(BRCA2):c.3762G>T (p.Glu1254Asp)
|
rs777028631
|
|
NM_000059.4(BRCA2):c.3785C>A (p.Ser1262Ter)
|
rs80358620
|
|
NM_000059.4(BRCA2):c.3799G>A (p.Asp1267Asn)
|
rs1191600785
|
|
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs)
|
rs80359405
|
|
NM_000059.4(BRCA2):c.3858_3860del (p.Lys1286del)
|
rs80359406
|
|
NM_000059.4(BRCA2):c.3860del (p.Asn1287fs)
|
rs80359406
|
|
NM_000059.4(BRCA2):c.3873del (p.Gln1291fs)
|
rs398122772
|
|
NM_000059.4(BRCA2):c.3885A>G (p.Gln1295=)
|
rs876659864
|
|
NM_000059.4(BRCA2):c.3902C>G (p.Thr1301Ser)
|
rs1455648880
|
|
NM_000059.4(BRCA2):c.3902C>T (p.Thr1301Ile)
|
rs1455648880
|
|
NM_000059.4(BRCA2):c.3923A>C (p.Glu1308Ala)
|
rs2137501297
|
|
NM_000059.4(BRCA2):c.3949A>T (p.Thr1317Ser)
|
rs398122773
|
|
NM_000059.4(BRCA2):c.3975_3978dup (p.Ala1327fs)
|
rs397515636
|
|
NM_000059.4(BRCA2):c.3994C>G (p.His1332Asp)
|
rs863224588
|
|
NM_000059.4(BRCA2):c.4007_4008insCATC (p.Asp1337fs)
|
rs878853577
|
|
NM_000059.4(BRCA2):c.4021T>C (p.Ser1341Pro)
|
rs2137502159
|
|
NM_000059.4(BRCA2):c.4037C>A (p.Thr1346Asn)
|
rs1555283519
|
|
NM_000059.4(BRCA2):c.4042del (p.Cys1348fs)
|
rs886037800
|
|
NM_000059.4(BRCA2):c.4079A>T (p.Asp1360Val)
|
rs730881529
|
|
NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu)
|
rs56248502
|
|
NM_000059.4(BRCA2):c.4107T>G (p.Ser1369=)
|
rs2137502983
|
|
NM_000059.4(BRCA2):c.4141_4143del (p.Lys1381del)
|
rs587782157
|
|
NM_000059.4(BRCA2):c.4143AGA[1] (p.Glu1382del)
|
rs80359432
|
|
NM_000059.4(BRCA2):c.4163_4164delinsA (p.Thr1388fs)
|
rs276174843
|
|
NM_000059.4(BRCA2):c.4211C>G (p.Ser1404Ter)
|
rs41293489
|
|
NM_000059.4(BRCA2):c.426-2A>G
|
rs398122779
|
|
NM_000059.4(BRCA2):c.426-37dup
|
rs1209765916
|
|
NM_000059.4(BRCA2):c.4269T>G (p.Thr1423=)
|
rs786201377
|
|
NM_000059.4(BRCA2):c.4278A>G (p.Thr1426=)
|
rs1555283682
|
|
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs)
|
rs80359439
|
|
NM_000059.4(BRCA2):c.4299G>A (p.Gly1433=)
|
rs1555283699
|
|
NM_000059.4(BRCA2):c.4321G>T (p.Glu1441Ter)
|
rs876659758
|
|
NM_000059.4(BRCA2):c.4398_4402del (p.Leu1466fs)
|
rs80359444
|
|
NM_000059.4(BRCA2):c.4405_4409del (p.Asp1469fs)
|
rs397507331
|
|
NM_000059.4(BRCA2):c.4414A>G (p.Lys1472Glu)
|
rs757821270
|
|
NM_000059.4(BRCA2):c.4415_4418del (p.Lys1472fs)
|
rs397507333
|
|
NM_000059.4(BRCA2):c.4423del (p.Met1475fs)
|
rs80359447
|
|
NM_000059.4(BRCA2):c.4478_4481del (p.Glu1493fs)
|
rs80359454
|
|
NM_000059.4(BRCA2):c.4489G>T (p.Val1497Phe)
|
rs1271777808
|
|
NM_000059.4(BRCA2):c.455C>A (p.Thr152Lys)
|
rs80358691
|
|
NM_000059.4(BRCA2):c.4620C>T (p.Asp1540=)
|
rs1555283875
|
|
NM_000059.4(BRCA2):c.4624G>A (p.Val1542Met)
|
rs28897729
|
|
NM_000059.4(BRCA2):c.4631del (p.Asn1544fs)
|
rs80359460
|
|
NM_000059.4(BRCA2):c.4633_4635del (p.Leu1545del)
|
rs775673155
|
|
NM_000059.4(BRCA2):c.4677del (p.Phe1559fs)
|
rs1064794708
|
|
NM_000059.4(BRCA2):c.4694del (p.Lys1565fs)
|
rs1593903166
|
|
NM_000059.4(BRCA2):c.469_470del (p.Lys157fs)
|
rs397507739
|
|
NM_000059.4(BRCA2):c.470_474del (p.Lys157fs)
|
rs80359463
|
|
NM_000059.4(BRCA2):c.4740_4741dup (p.Glu1581fs)
|
rs864622401
|
|
NM_000059.4(BRCA2):c.475+5G>A
|
rs730881504
|
|
NM_000059.4(BRCA2):c.476-3C>T
|
rs371431745
|
|
NM_000059.4(BRCA2):c.4764C>T (p.Ala1588=)
|
rs2137509962
|
|
NM_000059.4(BRCA2):c.4785G>T (p.Gln1595His)
|
rs1060502499
|
|
NM_000059.4(BRCA2):c.4794C>G (p.Leu1598=)
|
rs1294850148
|
|
NM_000059.4(BRCA2):c.4825A>G (p.Thr1609Ala)
|
rs876659201
|
|
NM_000059.4(BRCA2):c.4860A>G (p.Leu1620=)
|
rs976841328
|
|
NM_000059.4(BRCA2):c.4900T>A (p.Phe1634Ile)
|
rs1555283982
|
|
NM_000059.4(BRCA2):c.4928T>C (p.Val1643Ala)
|
rs28897731
|
|
NM_000059.4(BRCA2):c.4940_4941del (p.Thr1647fs)
|
rs397507751
|
|
NM_000059.4(BRCA2):c.4957A>G (p.Thr1653Ala)
|
rs587782186
|
|
NM_000059.4(BRCA2):c.4987_4990del (p.Val1663fs)
|
rs397507753
|
|
NM_000059.4(BRCA2):c.5033A>C (p.Lys1678Thr)
|
rs28897733
|
|
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs)
|
rs80359479
|
|
NM_000059.4(BRCA2):c.5095G>A (p.Asp1699Asn)
|
rs80358731
|
|
NM_000059.4(BRCA2):c.5100T>C (p.Gly1700=)
|
rs982587468
|
|
NM_000059.4(BRCA2):c.5101C>T (p.Gln1701Ter)
|
rs397507758
|
|
NM_000059.4(BRCA2):c.5116_5119del (p.Asn1706fs)
|
rs276174853
|
|
NM_000059.4(BRCA2):c.5130_5133del (p.Asp1709_Tyr1710insTer)
|
rs80359484
|
|
NM_000059.4(BRCA2):c.5146_5149del (p.Tyr1716fs)
|
rs276174854
|
|
NM_000059.4(BRCA2):c.5158dup (p.Ser1720fs)
|
rs80359489
|
|
NM_000059.4(BRCA2):c.5159C>A (p.Ser1720Ter)
|
rs80358740
|
|
NM_000059.4(BRCA2):c.516+14del
|
rs1336445194
|
|
NM_000059.4(BRCA2):c.517-105A>G
|
rs552306042
|
|
NM_000059.4(BRCA2):c.517-2A>G
|
rs81002858
|
|
NM_000059.4(BRCA2):c.517-2_631+1del
|
rs2137451892
|
|
NM_000059.4(BRCA2):c.5171T>C (p.Ile1724Thr)
|
rs80358743
|
|
NM_000059.4(BRCA2):c.517G>C (p.Gly173Arg)
|
rs397507768
|
|
NM_000059.4(BRCA2):c.51_52del (p.Arg18fs)
|
rs80359483
|
|
NM_000059.4(BRCA2):c.5217_5223del (p.Thr1738_Tyr1739insTer)
|
rs80359496
|
|
NM_000059.4(BRCA2):c.5218_5223del (p.Leu1740_Ser1741del)
|
rs397507775
|
|
NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter)
|
rs80359499
|
|
NM_000059.4(BRCA2):c.5261A>G (p.Asp1754Gly)
|
rs772772727
|
|
NM_000059.4(BRCA2):c.5290_5291del (p.Ser1764fs)
|
rs80359503
|
|
NM_000059.4(BRCA2):c.5298T>A (p.Asn1766Lys)
|
rs276174856
|
|
NM_000059.4(BRCA2):c.5334T>A (p.Asn1778Lys)
|
rs1566232224
|
|
NM_000059.4(BRCA2):c.5347A>G (p.Lys1783Glu)
|
rs1555284184
|
|
NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs)
|
rs80359507
|
|
NM_000059.4(BRCA2):c.5351dup (p.Asn1784fs)
|
rs80359507
|
|
NM_000059.4(BRCA2):c.538_539dup (p.Ser181fs)
|
rs80359510
|
|
NM_000059.4(BRCA2):c.5413A>G (p.Asn1805Asp)
|
rs1555284211
|
|
NM_000059.4(BRCA2):c.5449T>G (p.Ser1817Ala)
|
rs876658566
|
|
NM_000059.4(BRCA2):c.5465A>T (p.Asn1822Ile)
|
rs587781580
|
|
NM_000059.4(BRCA2):c.5471dup (p.Asn1824fs)
|
rs80359515
|
|
NM_000059.4(BRCA2):c.5482_5486del (p.Lys1828fs)
|
rs80359516
|
|
NM_000059.4(BRCA2):c.5495C>G (p.Ser1832Cys)
|
rs138489917
|
|
NM_000059.4(BRCA2):c.5514G>A (p.Glu1838=)
|
rs1593905671
|
|
NM_000059.4(BRCA2):c.5557del (p.Cys1853fs)
|
rs587782011
|
|
NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs)
|
rs80359520
|
|
NM_000059.4(BRCA2):c.5593dup (p.Ile1865fs)
|
rs2137518942
|
|
NM_000059.4(BRCA2):c.5595_5596del (p.Phe1866fs)
|
rs80359524
|
|
NM_000059.4(BRCA2):c.5604_5605del (p.Asp1868fs)
|
rs773229361
|
|
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs)
|
rs80359525
|
|
NM_000059.4(BRCA2):c.5621_5624del (p.Ile1874fs)
|
rs80359526
|
|
NM_000059.4(BRCA2):c.5622_5625del (p.Ile1874fs)
|
rs2137519244
|
|
NM_000059.4(BRCA2):c.5634C>T (p.Asn1878=)
|
rs80358784
|
|
NM_000059.4(BRCA2):c.5649A>C (p.Lys1883Asn)
|
rs80358787
|
|
NM_000059.4(BRCA2):c.5656C>T (p.Gln1886Ter)
|
rs80358790
|
|
NM_000059.4(BRCA2):c.5677T>G (p.Cys1893Gly)
|
rs786203261
|
|
NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter)
|
rs41293497
|
|
NM_000059.4(BRCA2):c.5711T>A (p.Leu1904His)
|
rs876658494
|
|
NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs)
|
rs80359530
|
|
NM_000059.4(BRCA2):c.5723_5724del (p.Leu1908fs)
|
rs886040608
|
|
NM_000059.4(BRCA2):c.5748T>G (p.His1916Gln)
|
rs1555284387
|
|
NM_000059.4(BRCA2):c.574_575del (p.Met192fs)
|
rs80359533
|
|
NM_000059.4(BRCA2):c.5773C>T (p.Gln1925Ter)
|
rs80358806
|
|
NM_000059.4(BRCA2):c.5782G>T (p.Glu1928Ter)
|
rs56253082
|
|
NM_000059.4(BRCA2):c.5796_5797del (p.His1932fs)
|
rs80359537
|
|
NM_000059.4(BRCA2):c.5851_5854del (p.Ser1951fs)
|
rs80359543
|
|
NM_000059.4(BRCA2):c.5861C>T (p.Thr1954Ile)
|
rs1060502413
|
|
NM_000059.4(BRCA2):c.5862_5863del (p.Ser1955fs)
|
rs786202700
|
|
NM_000059.4(BRCA2):c.5909C>A (p.Ser1970Ter)
|
rs80358824
|
|
NM_000059.4(BRCA2):c.5922T>C (p.Thr1974=)
|
rs786201515
|
|
NM_000059.4(BRCA2):c.5947G>A (p.Gly1983Arg)
|
rs1555284478
|
|
NM_000059.4(BRCA2):c.5986G>T (p.Ala1996Ser)
|
rs80358833
|
|
NM_000059.4(BRCA2):c.5993A>G (p.Gln1998Arg)
|
rs80358835
|
|
NM_000059.4(BRCA2):c.6020C>T (p.Thr2007Ile)
|
rs397507363
|
|
NM_000059.4(BRCA2):c.6024dup (p.Gln2009fs)
|
rs80359554
|
|
NM_000059.4(BRCA2):c.6059_6062del (p.Glu2020fs)
|
rs398122546
|
|
NM_000059.4(BRCA2):c.6066A>G (p.Ser2022=)
|
rs1555284519
|
|
NM_000059.4(BRCA2):c.6082_6086del (p.Glu2028fs)
|
rs80359558
|
|
NM_000059.4(BRCA2):c.6083A>G (p.Glu2028Gly)
|
rs1555284531
|
|
NM_000059.4(BRCA2):c.610del (p.Ser205fs)
|
rs80359560
|
|
NM_000059.4(BRCA2):c.6131G>C (p.Gly2044Ala)
|
rs56191579
|
|
NM_000059.4(BRCA2):c.6148G>A (p.Val2050Ile)
|
rs80358854
|
|
NM_000059.4(BRCA2):c.6154del (p.Ser2052fs)
|
rs80359562
|
|
NM_000059.4(BRCA2):c.6155C>G (p.Ser2052Ter)
|
rs786202461
|
|
NM_000059.4(BRCA2):c.6202dup (p.Ile2068fs)
|
rs397507833
|
|
NM_000059.4(BRCA2):c.6206T>G (p.Leu2069Ter)
|
rs80358859
|
|
NM_000059.4(BRCA2):c.6209A>G (p.Glu2070Gly)
|
rs1064793809
|
|
NM_000059.4(BRCA2):c.6267_6269delinsC (p.Glu2089fs)
|
rs276174868
|
|
NM_000059.4(BRCA2):c.6269A>G (p.His2090Arg)
|
rs397507366
|
|
NM_000059.4(BRCA2):c.6290C>A (p.Thr2097Lys)
|
rs80358866
|
|
NM_000059.4(BRCA2):c.6304G>A (p.Val2102Ile)
|
rs80358869
|
|
NM_000059.4(BRCA2):c.631+6A>C
|
rs1555281108
|
|
NM_000059.4(BRCA2):c.631+7A>G
|
rs431825339
|
|
NM_000059.4(BRCA2):c.6313del (p.Ile2105fs)
|
rs886040649
|
|
NM_000059.4(BRCA2):c.631G>A (p.Val211Ile)
|
rs80358871
|
|
NM_000059.4(BRCA2):c.632-1G>A
|
rs81002820
|
|
NM_000059.4(BRCA2):c.6334A>T (p.Arg2112Ter)
|
rs2137526529
|
|
NM_000059.4(BRCA2):c.6359C>G (p.Ser2120Ter)
|
rs397507845
|
|
NM_000059.4(BRCA2):c.6362A>G (p.Glu2121Gly)
|
rs397507846
|
|
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs)
|
rs80359584
|
|
NM_000059.4(BRCA2):c.6450dup (p.Val2151fs)
|
rs80359594
|
|
NM_000059.4(BRCA2):c.6465C>T (p.Leu2155=)
|
rs746099644
|
|
NM_000059.4(BRCA2):c.6466_6469del (p.Ser2156fs)
|
rs80359596
|
|
NM_000059.4(BRCA2):c.6468_6469del (p.Gln2157fs)
|
rs80359596
|
|
NM_000059.4(BRCA2):c.6468_6469dup (p.Gln2157fs)
|
rs80359596
|
|
NM_000059.4(BRCA2):c.6495G>A (p.Leu2165=)
|
rs1555284722
|
|
NM_000059.4(BRCA2):c.6496G>C (p.Val2166Leu)
|
rs750084851
|
|
NM_000059.4(BRCA2):c.6503G>C (p.Gly2168Ala)
|
rs397507372
|
|
NM_000059.4(BRCA2):c.6513G>C (p.Val2171=)
|
rs206076
|
|
NM_000059.4(BRCA2):c.6513G>T (p.Val2171=)
|
rs206076
|
|
NM_000059.4(BRCA2):c.6568G>A (p.Val2190Ile)
|
rs80358888
|
|
NM_000059.4(BRCA2):c.658_659del (p.Val220fs)
|
rs80359604
|
|
NM_000059.4(BRCA2):c.6591_6592del (p.Glu2198fs)
|
rs80359605
|
|
NM_000059.4(BRCA2):c.6599T>C (p.Phe2200Ser)
|
rs1372423132
|
|
NM_000059.4(BRCA2):c.6643del (p.Tyr2215fs)
|
rs80359614
|
|
NM_000059.4(BRCA2):c.6656C>G (p.Ser2219Ter)
|
rs80358893
|
|
NM_000059.4(BRCA2):c.67+3A>G
|
rs1593880835
|
|
NM_000059.4(BRCA2):c.6714T>G (p.Asp2238Glu)
|
rs28897742
|
|
NM_000059.4(BRCA2):c.674C>T (p.Thr225Ile)
|
rs1555281361
|
|
NM_000059.4(BRCA2):c.6761T>A (p.Phe2254Tyr)
|
rs786202915
|
|
NM_000059.4(BRCA2):c.6796A>C (p.Asn2266His)
|
rs80358905
|
|
NM_000059.4(BRCA2):c.68-1G>T
|
rs1060502376
|
|
NM_000059.4(BRCA2):c.68-2_316+1del
|
rs2138703519
|
|
NM_000059.4(BRCA2):c.6808_6836del (p.Gly2270fs)
|
rs2137530818
|
|
NM_000059.4(BRCA2):c.6814del (p.Arg2272fs)
|
rs397507885
|
|
NM_000059.4(BRCA2):c.6818G>A (p.Arg2273Lys)
|
rs587782174
|
|
NM_000059.4(BRCA2):c.6819delinsGT (p.Gly2274fs)
|
rs2137530913
|
|
NM_000059.4(BRCA2):c.682-12_682-11del
|
rs276174879
|
|
NM_000059.4(BRCA2):c.682-2_793+1del
|
rs2137461072
|
|
NM_000059.4(BRCA2):c.6937+34C>T
|
rs1555285174
|
|
NM_000059.4(BRCA2):c.6988A>G (p.Ile2330Val)
|
rs876661032
|
|
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His)
|
rs28897743
|
|
NM_000059.4(BRCA2):c.7007G>C (p.Arg2336Pro)
|
rs28897743
|
|
NM_000059.4(BRCA2):c.7007G>T (p.Arg2336Leu)
|
rs28897743
|
|
NM_000059.4(BRCA2):c.7008-1_7435+372del
|
rs2137555065
|
|
NM_000059.4(BRCA2):c.7008-2A>T
|
rs81002823
|
|
NM_000059.4(BRCA2):c.7008-5T>C
|
rs397507380
|
|
NM_000059.4(BRCA2):c.700del (p.Ser234fs)
|
rs80359630
|
|
NM_000059.4(BRCA2):c.7040C>A (p.Pro2347Gln)
|
rs80358929
|
|
NM_000059.4(BRCA2):c.7045T>C (p.Phe2349Leu)
|
rs1555285984
|
|
NM_000059.4(BRCA2):c.7069_7070del (p.Leu2357fs)
|
rs80359636
|
|
NM_000059.4(BRCA2):c.7093C>T (p.His2365Tyr)
|
rs876659943
|
|
NM_000059.4(BRCA2):c.712G>T (p.Glu238Ter)
|
rs56383036
|
|
NM_000059.4(BRCA2):c.7183del (p.His2395fs)
|
rs397507900
|
|
NM_000059.4(BRCA2):c.7188G>A (p.Leu2396=)
|
rs587780871
|
|
NM_000059.4(BRCA2):c.7234_7235insG (p.Thr2412fs)
|
rs397507906
|
|
NM_000059.4(BRCA2):c.7242A>G (p.Ser2414=)
|
rs1799955
|
|
NM_000059.4(BRCA2):c.7308C>T (p.Asn2436=)
|
rs2137557865
|
|
NM_000059.4(BRCA2):c.7331A>T (p.Asp2444Val)
|
rs431825352
|
|
NM_000059.4(BRCA2):c.7419_7420del (p.Cys2473_Glu2474delinsTer)
|
rs80359651
|
|
NM_000059.4(BRCA2):c.7436-2_7617+189del
|
rs2137561652
|
|
NM_000059.4(BRCA2):c.745_757del (p.Ser249fs)
|
rs1555281467
|
|
NM_000059.4(BRCA2):c.7467dup (p.Ile2490fs)
|
rs397507918
|
|
NM_000059.4(BRCA2):c.7471C>T (p.Gln2491Ter)
|
rs80358971
|
|
NM_000059.4(BRCA2):c.7477A>T (p.Met2493Leu)
|
rs1064793329
|
|
NM_000059.4(BRCA2):c.7506C>T (p.Arg2502=)
|
rs140693106
|
|
NM_000059.4(BRCA2):c.7526G>A (p.Ser2509Asn)
|
rs1555286271
|
|
NM_000059.4(BRCA2):c.755_758del (p.Asp252fs)
|
rs80359659
|
|
NM_000059.4(BRCA2):c.7563C>A (p.Ile2521=)
|
rs786204282
|
|
NM_000059.4(BRCA2):c.7575del (p.Ala2526fs)
|
rs869320797
|
|
NM_000059.4(BRCA2):c.7580dup (p.Gly2528fs)
|
rs1555286298
|
|
NM_000059.4(BRCA2):c.7595_7596insTT (p.Ala2534fs)
|
rs80359666
|
|
NM_000059.4(BRCA2):c.7617+1G>A
|
rs397507922
|
|
NM_000059.4(BRCA2):c.7618-21G>T
|
rs376957350
|
|
NM_000059.4(BRCA2):c.7618-6G>T
|
rs1057520251
|
|
NM_000059.4(BRCA2):c.7625C>T (p.Thr2542Met)
|
rs80358989
|
|
NM_000059.4(BRCA2):c.7641A>G (p.Lys2547=)
|
rs1555286393
|
|
NM_000059.4(BRCA2):c.7674G>C (p.Glu2558Asp)
|
rs730881558
|
|
NM_000059.4(BRCA2):c.771_775del (p.Asn257fs)
|
rs80359671
|
|
NM_000059.4(BRCA2):c.7726G>T (p.Gly2576Ter)
|
rs1210418849
|
|
NM_000059.4(BRCA2):c.774_775del (p.Glu260fs)
|
rs75096777
|
|
NM_000059.4(BRCA2):c.7758G>A (p.Trp2586Ter)
|
rs80359004
|
|
NM_000059.4(BRCA2):c.7762_7764delinsTT (p.Ile2588fs)
|
rs483353072
|
|
NM_000059.4(BRCA2):c.7777G>T (p.Gly2593Ter)
|
rs587782028
|
|
NM_000059.4(BRCA2):c.7806-15C>T
|
rs1555286802
|
|
NM_000059.4(BRCA2):c.7806-2A>G
|
rs81002836
|
|
NM_000059.4(BRCA2):c.7815_7816del (p.Cys2605_Asp2606delinsTer)
|
rs886040730
|
|
NM_000059.4(BRCA2):c.7826G>A (p.Gly2609Asp)
|
rs80359009
|
|
NM_000059.4(BRCA2):c.7847C>G (p.Ser2616Cys)
|
rs1174303167
|
|
NM_000059.4(BRCA2):c.7856G>A (p.Trp2619Ter)
|
rs397507941
|
|
NM_000059.4(BRCA2):c.7857G>A (p.Trp2619Ter)
|
rs80359011
|
|
NM_000059.4(BRCA2):c.7868A>G (p.His2623Arg)
|
rs80359012
|
|
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe)
|
rs80359014
|
|
NM_000059.4(BRCA2):c.7886_7897del (p.Trp2629_Ala2633delinsSer)
|
rs2137577128
|
|
NM_000059.4(BRCA2):c.7887G>T (p.Trp2629Cys)
|
rs886040734
|
|
NM_000059.4(BRCA2):c.7908T>A (p.Cys2636Ter)
|
rs80359016
|
|
NM_000059.4(BRCA2):c.793+12G>A
|
rs1555281482
|
|
NM_000059.4(BRCA2):c.7966C>G (p.Leu2656Val)
|
rs2072748978
|
|
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys)
|
rs80359027
|
|
NM_000059.4(BRCA2):c.7977-2A>G
|
rs276174899
|
|
NM_000059.4(BRCA2):c.7980T>G (p.Tyr2660Ter)
|
rs397507949
|
|
NM_000059.4(BRCA2):c.7985C>A (p.Thr2662Lys)
|
rs431825362
|
|
NM_000059.4(BRCA2):c.7987G>A (p.Glu2663Lys)
|
rs80359030
|
|
NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val)
|
rs80359031
|
|
NM_000059.4(BRCA2):c.8002A>T (p.Arg2668Ter)
|
rs276174900
|
|
NM_000059.4(BRCA2):c.8051A>G (p.Lys2684Arg)
|
rs80359043
|
|
NM_000059.4(BRCA2):c.8104G>A (p.Glu2702Lys)
|
rs186224762
|
|
NM_000059.4(BRCA2):c.8189C>G (p.Ala2730Gly)
|
rs80359067
|
|
NM_000059.4(BRCA2):c.8195T>A (p.Leu2732Ter)
|
rs397507967
|
|
NM_000059.4(BRCA2):c.8206dup (p.Leu2736fs)
|
rs397507396
|
|
NM_000059.4(BRCA2):c.8213C>G (p.Ala2738Gly)
|
rs1555287046
|
|
NM_000059.4(BRCA2):c.8303T>A (p.Leu2768His)
|
rs587782732
|
|
NM_000059.4(BRCA2):c.8331+5A>G
|
rs1555287099
|
|
NM_000059.4(BRCA2):c.8332-1G>C
|
rs397507979
|
|
NM_000059.4(BRCA2):c.8332-1_8487+146dup
|
rs2137596319
|
|
NM_000059.4(BRCA2):c.8332-2A>G
|
rs587782774
|
|
NM_000059.4(BRCA2):c.8332-41A>G
|
rs751662106
|
|
NM_000059.4(BRCA2):c.8332-9T>G
|
rs1135401926
|
|
NM_000059.4(BRCA2):c.8343C>T (p.Asn2781=)
|
rs1555287607
|
|
NM_000059.4(BRCA2):c.8399C>G (p.Pro2800Arg)
|
rs80359087
|
|
NM_000059.4(BRCA2):c.8434GGA[1] (p.Gly2813del)
|
rs397507986
|
|
NM_000059.4(BRCA2):c.8462T>C (p.Ile2821Thr)
|
rs80359096
|
|
NM_000059.4(BRCA2):c.8469_8475del (p.Gln2823fs)
|
rs2137597915
|
|
NM_000059.4(BRCA2):c.8470A>T (p.Arg2824Ter)
|
rs886040778
|
|
NM_000059.4(BRCA2):c.8478C>A (p.Tyr2826Ter)
|
rs776353983
|
|
NM_000059.4(BRCA2):c.8487+3A>G
|
rs81002806
|
|
NM_000059.4(BRCA2):c.8487+47C>A
|
rs11571744
|
|
NM_000059.4(BRCA2):c.8487+47C>T
|
rs11571744
|
|
NM_000059.4(BRCA2):c.8487+9T>A
|
rs1593930592
|
|
NM_000059.4(BRCA2):c.8488-15A>G
|
rs775192142
|
|
NM_000059.4(BRCA2):c.8488-3C>A
|
rs1566249158
|
|
NM_000059.4(BRCA2):c.8494G>C (p.Glu2832Gln)
|
rs876658951
|
|
NM_000059.4(BRCA2):c.8530G>A (p.Glu2844Lys)
|
rs755783122
|
|
NM_000059.4(BRCA2):c.8535_8538del (p.Glu2846fs)
|
rs80359714
|
|
NM_000059.4(BRCA2):c.8537_8538del (p.Glu2846fs)
|
rs80359714
|
|
NM_000059.4(BRCA2):c.8614G>A (p.Glu2872Lys)
|
rs1555287788
|
|
NM_000059.4(BRCA2):c.8627A>C (p.His2876Pro)
|
rs1060502470
|
|
NM_000059.4(BRCA2):c.8633-14T>C
|
rs769984654
|
|
NM_000059.4(BRCA2):c.8633-21A>G
|
rs1555288112
|
|
NM_000059.4(BRCA2):c.8633-4T>A
|
rs397507407
|
|
NM_000059.4(BRCA2):c.8668C>G (p.Leu2890Val)
|
rs80359127
|
|
NM_000059.4(BRCA2):c.8673_8674del (p.Arg2892fs)
|
rs80359724
|
|
NM_000059.4(BRCA2):c.8680del (p.Gln2894fs)
|
rs397507410
|
|
NM_000059.4(BRCA2):c.8697A>G (p.Gln2899=)
|
rs786203707
|
|
NM_000059.4(BRCA2):c.8732del (p.Ala2911fs)
|
rs2137613348
|
|
NM_000059.4(BRCA2):c.8754+1G>A
|
rs397508006
|
|
NM_000059.4(BRCA2):c.8754+4A>G
|
rs81002893
|
|
NM_000059.4(BRCA2):c.8755-14T>C
|
rs1555288362
|
|
NM_000059.4(BRCA2):c.8755-1G>A
|
rs81002812
|
|
NM_000059.4(BRCA2):c.8755-2_9023del
|
rs2137618829
|
|
NM_000059.4(BRCA2):c.8755-65A>G
|
rs1001404909
|
|
NM_000059.4(BRCA2):c.8789A>G (p.Asn2930Ser)
|
rs397508008
|
|
NM_000059.4(BRCA2):c.8827del (p.Gln2943fs)
|
rs2137619587
|
|
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn)
|
rs28897754
|
|
NM_000059.4(BRCA2):c.8897T>C (p.Val2966Ala)
|
rs876658955
|
|
NM_000059.4(BRCA2):c.8904del (p.Val2969fs)
|
rs80359730
|
|
NM_000059.4(BRCA2):c.8924del (p.Val2975fs)
|
rs397508020
|
|
NM_000059.4(BRCA2):c.8954-1G>A
|
rs1555288435
|
|
NM_000059.4(BRCA2):c.8954-2A>C
|
rs1135401928
|
|
NM_000059.4(BRCA2):c.8954-40C>A
|
rs1159429127
|
|
NM_000059.4(BRCA2):c.8954-5A>G
|
rs886040949
|
|
NM_000059.4(BRCA2):c.8954-5_8954-2del
|
rs587782878
|
|
NM_000059.4(BRCA2):c.8961_8964del (p.Ser2988fs)
|
rs80359734
|
|
NM_000059.4(BRCA2):c.898G>A (p.Val300Ile)
|
rs878853616
|
|
NM_000059.4(BRCA2):c.8991T>G (p.Tyr2997Ter)
|
rs397508028
|
|
NM_000059.4(BRCA2):c.8T>C (p.Ile3Thr)
|
rs1555280096
|
|
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys)
|
rs80359152
|
|
NM_000059.4(BRCA2):c.9011A>G (p.Lys3004Arg)
|
rs587782779
|
|
NM_000059.4(BRCA2):c.9014_9017dup (p.Tyr3006Ter)
|
rs1555288462
|
|
NM_000059.4(BRCA2):c.9019A>G (p.Arg3007Gly)
|
rs397507417
|
|
NM_000059.4(BRCA2):c.9053G>A (p.Ser3018Asn)
|
rs398122720
|
|
NM_000059.4(BRCA2):c.9076C>T (p.Gln3026Ter)
|
rs80359159
|
|
NM_000059.4(BRCA2):c.908C>T (p.Ser303Phe)
|
rs867323565
|
|
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs)
|
rs397507419
|
|
NM_000059.4(BRCA2):c.9099T>C (p.Thr3033=)
|
rs876658635
|
|
NM_000059.4(BRCA2):c.9103dup (p.Tyr3035fs)
|
rs1555288507
|
|
NM_000059.4(BRCA2):c.9104A>C (p.Tyr3035Ser)
|
rs80359165
|
|
NM_000059.4(BRCA2):c.9104A>G (p.Tyr3035Cys)
|
rs80359165
|
|
NM_000059.4(BRCA2):c.9116C>T (p.Pro3039Leu)
|
rs80359167
|
|
NM_000059.4(BRCA2):c.9118-1G>C
|
rs886040950
|
|
NM_000059.4(BRCA2):c.9148C>T (p.Gln3050Ter)
|
rs80359170
|
|
NM_000059.4(BRCA2):c.9162C>G (p.Pro3054=)
|
rs778426874
|
|
NM_000059.4(BRCA2):c.9175A>G (p.Lys3059Glu)
|
rs80359174
|
|
NM_000059.4(BRCA2):c.9196C>T (p.Gln3066Ter)
|
rs80359180
|
|
NM_000059.4(BRCA2):c.9246dup (p.Lys3083fs)
|
rs886038189
|
|
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs)
|
rs80359752
|
|
NM_000059.4(BRCA2):c.9257G>C (p.Gly3086Ala)
|
rs574271678
|
|
NM_000059.4(BRCA2):c.927del (p.Leu310fs)
|
rs886040828
|
|
NM_000059.4(BRCA2):c.9294C>T (p.Tyr3098=)
|
rs80359200
|
|
NM_000059.4(BRCA2):c.9302T>G (p.Leu3101Arg)
|
rs28897758
|
|
NM_000059.4(BRCA2):c.931T>C (p.Cys311Arg)
|
rs61754140
|
|
NM_000059.4(BRCA2):c.9329dup (p.Asn3110fs)
|
rs1405341259
|
|
NM_000059.4(BRCA2):c.9333G>A (p.Glu3111=)
|
rs876658469
|
|
NM_000059.4(BRCA2):c.9345G>C (p.Lys3115Asn)
|
rs2137652892
|
|
NM_000059.4(BRCA2):c.9352_9353del (p.Met3118fs)
|
rs786203318
|
|
NM_000059.4(BRCA2):c.9363T>C (p.Ala3121=)
|
rs761305496
|
|
NM_000059.4(BRCA2):c.9364G>A (p.Ala3122Thr)
|
rs587782313
|
|
NM_000059.4(BRCA2):c.9373C>T (p.Leu3125Phe)
|
rs1555289566
|
|
NM_000059.4(BRCA2):c.9377A>G (p.Gln3126Arg)
|
rs397507426
|
|
NM_000059.4(BRCA2):c.9380G>A (p.Trp3127Ter)
|
rs80359211
|
|
NM_000059.4(BRCA2):c.9413dup (p.Leu3138fs)
|
rs876659435
|
|
NM_000059.4(BRCA2):c.9425A>G (p.Asp3142Gly)
|
rs80359216
|
|
NM_000059.4(BRCA2):c.9431del (p.Ser3144fs)
|
rs397508051
|
|
NM_000059.4(BRCA2):c.9435_9436del (p.Ser3147fs)
|
rs80359763
|
|
NM_000059.4(BRCA2):c.9564T>C (p.Asp3188=)
|
rs398122616
|
|
NM_000059.4(BRCA2):c.956A>C (p.Asn319Thr)
|
rs55939572
|
|
NM_000059.4(BRCA2):c.956A>G (p.Asn319Ser)
|
rs55939572
|
|
NM_000059.4(BRCA2):c.9606G>A (p.Pro3202=)
|
rs755890067
|
|
NM_000059.4(BRCA2):c.9606G>C (p.Pro3202=)
|
rs755890067
|
|
NM_000059.4(BRCA2):c.9613_9614delinsCT (p.Ala3205Leu)
|
rs276174926
|
|
NM_000059.4(BRCA2):c.9648+106del
|
rs11571824
|
|
NM_000059.4(BRCA2):c.9649-6dup
|
rs276174929
|
|
NM_000059.4(BRCA2):c.9666del (p.Cys3222fs)
|
rs80359772
|
|
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs)
|
rs80359775
|
|
NM_000059.4(BRCA2):c.9707A>G (p.Lys3236Arg)
|
rs980577419
|
|
NM_000059.4(BRCA2):c.9725C>T (p.Thr3242Ile)
|
rs768210077
|
|
NM_000059.4(BRCA2):c.9754_9765del (p.Ser3252_Gly3255del)
|
rs2137663534
|
|
NM_000059.4(BRCA2):c.9777T>G (p.Ile3259Met)
|
rs1555289957
|
|
NM_000059.4(BRCA2):c.9924C>G (p.Tyr3308Ter)
|
rs4987049
|
|
NM_000059.4(BRCA2):c.9941A>G (p.Lys3314Arg)
|
rs1566261206
|
|
NM_000059.4(BRCA2):c.994del (p.Ile332fs)
|
rs80359777
|
|
NM_000070.3(CAPN3):c.1246C>T (p.Leu416Phe)
|
rs1334589276
|
|
NM_000077.5(CDKN2A):c.370C>T (p.Arg124Cys)
|
rs34170727
|
|
NM_000080.4(CHRNE):c.404C>G (p.Ser135Cys)
|
rs763181728
|
|
NM_000080.4(CHRNE):c.488C>T (p.Ser163Leu)
|
rs121909516
|
|
NM_000081.4(LYST):c.2656C>G (p.Arg886Gly)
|
rs1037862310
|
|
NM_000081.4(LYST):c.4325G>A (p.Ser1442Asn)
|
rs1271144759
|
|
NM_000081.4(LYST):c.4380G>T (p.Leu1460Phe)
|
rs768247031
|
|
NM_000081.4(LYST):c.6390C>G (p.Asp2130Glu)
|
rs1237420442
|
|
NM_000081.4(LYST):c.7489G>C (p.Ala2497Pro)
|
rs745703349
|
|
NM_000082.4(ERCC8):c.550+15T>C
|
rs1748965740
|
|
NM_000090.4(COL3A1):c.4345A>C (p.Ile1449Leu)
|
rs2153504452
|
|
NM_000092.5(COL4A4):c.3018A>T (p.Arg1006Ser)
|
rs531161419
|
|
NM_000092.5(COL4A4):c.373G>C (p.Gly125Arg)
|
rs2061619888
|
|
NM_000092.5(COL4A4):c.4760C>G (p.Pro1587Arg)
|
rs190148408
|
|
NM_000093.5(COL5A1):c.12T>G (p.His4Gln)
|
rs368818087
|
|
NM_000093.5(COL5A1):c.2392G>A (p.Asp798Asn)
|
rs979271877
|
|
NM_000094.4(COL7A1):c.724G>A (p.Glu242Lys)
|
rs549872555
|
|
NM_000094.4(COL7A1):c.8539C>T (p.Pro2847Ser)
|
rs140041143
|
|
NM_000095.3(COMP):c.1883G>C (p.Arg628Pro)
|
rs1387407761
|
|
NM_000107.3(DDB2):c.794A>G (p.Gln265Arg)
|
rs1953701307
|
|
NM_000123.4(ERCC5):c.264+4A>G
|
rs2140517480
|
|
NM_000123.4(ERCC5):c.3017A>G (p.Asp1006Gly)
|
rs2140542984
|
|
NM_000124.4(ERCC6):c.2648T>G (p.Leu883Arg)
|
rs2132541065
|
|
NM_000130.5(F5):c.3455A>C (p.Glu1152Ala)
|
rs543751483
|
|
NM_000135.4(FANCA):c.20C>A (p.Pro7Gln)
|
rs772712346
|
|
NM_000135.4(FANCA):c.3416T>A (p.Leu1139Gln)
|
rs2143106961
|
|
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg)
|
rs139160837
|
|
NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter)
|
rs759900071
|
|
NM_000136.3(FANCC):c.1155-14T>G
|
rs2134552606
|
|
NM_000136.3(FANCC):c.1244C>A (p.Ala415Glu)
|
rs550462055
|
|
NM_000136.3(FANCC):c.1264C>A (p.Leu422Met)
|
rs756716463
|
|
NM_000136.3(FANCC):c.1272G>A (p.Trp424Ter)
|
rs2134548133
|
|
NM_000136.3(FANCC):c.1329+246del
|
rs542091036
|
|
NM_000136.3(FANCC):c.1330-19_1330-10del
|
rs1389222142
|
|
NM_000136.3(FANCC):c.1485G>A (p.Leu495=)
|
rs56082100
|
|
NM_000136.3(FANCC):c.1636C>G (p.Leu546Val)
|
rs2071083777
|
|
NM_000136.3(FANCC):c.166-165_250+3del
|
rs2136090574
|
|
NM_000136.3(FANCC):c.213G>T (p.Leu71Phe)
|
rs2136091002
|
|
NM_000136.3(FANCC):c.345+4AG[2]
|
rs755657969
|
|
NM_000136.3(FANCC):c.4G>A (p.Ala2Thr)
|
rs2136102300
|
|
NM_000136.3(FANCC):c.541G>C (p.Ala181Pro)
|
rs2135428686
|
|
NM_000136.3(FANCC):c.67del (p.Asp23fs)
|
rs104886459
|
|
NM_000136.3(FANCC):c.697T>C (p.Ser233Pro)
|
rs1827537931
|
|
NM_000136.3(FANCC):c.760A>G (p.Met254Val)
|
rs757294568
|
|
NM_000136.3(FANCC):c.997-9C>G
|
rs774886992
|
|
NM_000138.5(FBN1):c.6791A>G (p.Glu2264Gly)
|
rs2141232588
|
|
NM_000150.4(FUT6):c.957T>G (p.Phe319Leu)
|
rs756266523
|
|
NM_000155.4(GALT):c.598del (p.Gln200fs)
|
rs111033738
|
|
NM_000158.4(GBE1):c.2004C>A (p.Asp668Glu)
|
rs757815784
|
|
NM_000165.5(GJA1):c.932del (p.Ala311fs)
|
rs778110855
|
|
NM_000169.3(GLA):c.97G>A (p.Asp33Asn)
|
rs2147487414
|
|
NM_000179.2(MSH6):c.3439-?_3556+?del
|
|
|
NM_000179.2(MSH6):c.458-?_3556+?del
|
|
|
NM_000179.2(MSH6):c.458-?_627+?del
|
|
|
NM_000179.3(MSH6):c.-2_260+3387del
|
|
|
NM_000179.3(MSH6):c.-2_261-3610del
|
|
|
NM_000179.3(MSH6):c.-4C>T
|
rs1114167784
|
|
NM_000179.3(MSH6):c.-4_259del (p.Met1*)
|
rs2103930283
|
|
NM_000179.3(MSH6):c.1030C>T (p.Gln344Ter)
|
rs730881815
|
|
NM_000179.3(MSH6):c.1037C>G (p.Ser346Cys)
|
rs567785169
|
|
NM_000179.3(MSH6):c.1089dup (p.Val364fs)
|
rs2104318953
|
|
NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer)
|
rs267608077
|
|
NM_000179.3(MSH6):c.1139_1143del (p.Asp380fs)
|
rs587779206
|
|
NM_000179.3(MSH6):c.1180T>G (p.Ser394Ala)
|
rs1553412587
|
|
NM_000179.3(MSH6):c.1196C>T (p.Pro399Leu)
|
rs878853701
|
|
NM_000179.3(MSH6):c.1233G>A (p.Arg411=)
|
rs554843104
|
|
NM_000179.3(MSH6):c.1238G>A (p.Trp413Ter)
|
rs786201049
|
|
NM_000179.3(MSH6):c.1295T>C (p.Phe432Ser)
|
rs750528093
|
|
NM_000179.3(MSH6):c.1299T>G (p.Tyr433Ter)
|
rs267608055
|
|
NM_000179.3(MSH6):c.1371C>A (p.Ala457=)
|
rs1349832206
|
|
NM_000179.3(MSH6):c.1407T>A (p.Tyr469Ter)
|
rs587781408
|
|
NM_000179.3(MSH6):c.1471ATG[1] (p.Met492del)
|
rs587782576
|
|
NM_000179.3(MSH6):c.1483C>T (p.Arg495Ter)
|
rs587779212
|
|
NM_000179.3(MSH6):c.1519dup (p.Arg507fs)
|
rs876658881
|
|
NM_000179.3(MSH6):c.1553C>A (p.Thr518Asn)
|
rs1553412945
|
|
NM_000179.3(MSH6):c.1571dup (p.Tyr524Ter)
|
rs1553412966
|
|
NM_000179.3(MSH6):c.1600A>G (p.Asn534Asp)
|
rs1669350157
|
|
NM_000179.3(MSH6):c.1667A>G (p.Tyr556Cys)
|
rs63751312
|
|
NM_000179.3(MSH6):c.1669G>A (p.Gly557Ser)
|
rs1553413048
|
|
NM_000179.3(MSH6):c.167G>T (p.Gly56Val)
|
rs1572698275
|
|
NM_000179.3(MSH6):c.1707del (p.Phe569fs)
|
rs1669364351
|
|
NM_000179.3(MSH6):c.1712G>A (p.Gly571Asp)
|
rs863224618
|
|
NM_000179.3(MSH6):c.1714C>T (p.Gln572Ter)
|
rs1064795256
|
|
NM_000179.3(MSH6):c.1739C>A (p.Ser580Ter)
|
rs41295270
|
|
NM_000179.3(MSH6):c.1750A>C (p.Thr584Pro)
|
rs1553413123
|
|
NM_000179.3(MSH6):c.1752T>C (p.Thr584=)
|
rs1114167777
|
|
NM_000179.3(MSH6):c.1767del (p.Pro591fs)
|
rs1114167765
|
|
NM_000179.3(MSH6):c.1806_1809del (p.Glu604fs)
|
rs63750735
|
|
NM_000179.3(MSH6):c.1855G>T (p.Glu619Ter)
|
rs1669384406
|
|
NM_000179.3(MSH6):c.1883G>A (p.Trp628Ter)
|
rs863225401
|
|
NM_000179.3(MSH6):c.1890A>C (p.Ala630=)
|
rs1468271394
|
|
NM_000179.3(MSH6):c.189C>T (p.Ser63=)
|
rs917331457
|
|
NM_000179.3(MSH6):c.1901_1902del (p.Thr633_Leu634insTer)
|
rs267608082
|
|
NM_000179.3(MSH6):c.1982del (p.Gly661fs)
|
rs2104380327
|
|
NM_000179.3(MSH6):c.1996T>C (p.Ser666Pro)
|
rs587779222
|
|
NM_000179.3(MSH6):c.2028_2029del (p.Lys676_Ser677insTer)
|
rs1064794055
|
|
NM_000179.3(MSH6):c.2061T>A (p.Cys687Ter)
|
rs267608068
|
|
NM_000179.3(MSH6):c.2061T>G (p.Cys687Trp)
|
rs267608068
|
|
NM_000179.3(MSH6):c.2062_2063del (p.Val688fs)
|
rs63750075
|
|
NM_000179.3(MSH6):c.2079dup (p.Cys694fs)
|
rs267608083
|
|
NM_000179.3(MSH6):c.2108T>C (p.Met703Thr)
|
rs1064793189
|
|
NM_000179.3(MSH6):c.2132C>T (p.Pro711Leu)
|
rs2104390270
|
|
NM_000179.3(MSH6):c.2147_2148del (p.Thr716fs)
|
rs786204048
|
|
NM_000179.3(MSH6):c.2150_2153del (p.Val717fs)
|
rs267608058
|
|
NM_000179.3(MSH6):c.2187C>T (p.Ala729=)
|
rs375610656
|
|
NM_000179.3(MSH6):c.2194C>T (p.Arg732Ter)
|
rs63751127
|
|
NM_000179.3(MSH6):c.2230dup (p.Glu744fs)
|
rs786201050
|
|
NM_000179.3(MSH6):c.2238T>C (p.Phe746=)
|
rs1384756767
|
|
NM_000179.3(MSH6):c.2291C>G (p.Thr764Ser)
|
rs561198849
|
|
NM_000179.3(MSH6):c.2300C>T (p.Thr767Ile)
|
rs587781462
|
|
NM_000179.3(MSH6):c.2314C>T (p.Arg772Trp)
|
rs63750138
|
|
NM_000179.3(MSH6):c.2316_2317dup (p.Leu773fs)
|
rs1553413693
|
|
NM_000179.3(MSH6):c.2342C>T (p.Pro781Leu)
|
rs1553413710
|
|
NM_000179.3(MSH6):c.2348_2349del (p.Leu782_Cys783insTer)
|
rs267608065
|
|
NM_000179.3(MSH6):c.2412_2413del (p.Lys804fs)
|
rs2104405276
|
|
NM_000179.3(MSH6):c.24C>T (p.Tyr8=)
|
rs746306598
|
|
NM_000179.3(MSH6):c.2503C>G (p.Gln835Glu)
|
rs63751321
|
|
NM_000179.3(MSH6):c.2505G>C (p.Gln835His)
|
rs863224328
|
|
NM_000179.3(MSH6):c.251C>T (p.Ala84Val)
|
rs878853717
|
|
NM_000179.3(MSH6):c.2561_2562delinsTT (p.Lys854Ile)
|
rs587780673
|
|
NM_000179.3(MSH6):c.2569_2572del (p.Asp857fs)
|
rs587779243
|
|
NM_000179.3(MSH6):c.2677_2678del (p.Leu893fs)
|
rs1572728112
|
|
NM_000179.3(MSH6):c.2690dup (p.Asn897fs)
|
rs1553414010
|
|
NM_000179.3(MSH6):c.2764C>T (p.Arg922Ter)
|
rs587779246
|
|
NM_000179.3(MSH6):c.2768A>G (p.Lys923Arg)
|
rs1553414124
|
|
NM_000179.3(MSH6):c.2805dup (p.Asp936Ter)
|
rs876659189
|
|
NM_000179.3(MSH6):c.2905T>C (p.Tyr969His)
|
rs1348956744
|
|
NM_000179.3(MSH6):c.2910G>A (p.Trp970Ter)
|
rs765411990
|
|
NM_000179.3(MSH6):c.2936T>C (p.Leu979Pro)
|
rs1218426245
|
|
NM_000179.3(MSH6):c.2963G>A (p.Arg988His)
|
rs115386788
|
|
NM_000179.3(MSH6):c.2963G>T (p.Arg988Leu)
|
rs115386788
|
|
NM_000179.3(MSH6):c.2966A>T (p.Asn989Ile)
|
rs763146296
|
|
NM_000179.3(MSH6):c.2989A>G (p.Lys997Glu)
|
rs1064794943
|
|
NM_000179.3(MSH6):c.3037_3041del (p.Lys1013fs)
|
rs587782712
|
|
NM_000179.3(MSH6):c.3079G>C (p.Val1027Leu)
|
rs876658397
|
|
NM_000179.3(MSH6):c.3083C>A (p.Ser1028Ter)
|
rs876660853
|
|
NM_000179.3(MSH6):c.3142C>T (p.Gln1048Ter)
|
rs200492211
|
|
NM_000179.3(MSH6):c.3151G>A (p.Val1051Ile)
|
rs576269342
|
|
NM_000179.3(MSH6):c.3151_3152dup (p.Val1051_Glu1052insTer)
|
rs1175196087
|
|
NM_000179.3(MSH6):c.3162C>T (p.Ile1054=)
|
rs149605979
|
|
NM_000179.3(MSH6):c.3163dup (p.Ala1055fs)
|
rs878853729
|
|
NM_000179.3(MSH6):c.3172G>C (p.Asp1058His)
|
rs863225404
|
|
NM_000179.3(MSH6):c.3173-3C>G
|
rs1060502944
|
|
NM_000179.3(MSH6):c.3220_3221del (p.Met1074fs)
|
rs1553331290
|
|
NM_000179.3(MSH6):c.3226C>G (p.Arg1076Gly)
|
rs63750617
|
|
NM_000179.3(MSH6):c.3238_3239del (p.Leu1080fs)
|
rs863225406
|
|
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=)
|
rs3136351
|
|
NM_000179.3(MSH6):c.3259C>G (p.Pro1087Ala)
|
rs63750998
|
|
NM_000179.3(MSH6):c.3261del (p.Phe1088fs)
|
rs267608078
|
|
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs)
|
rs267608078
|
|
NM_000179.3(MSH6):c.3268_3274del (p.Glu1090fs)
|
rs587779259
|
|
NM_000179.3(MSH6):c.3284G>C (p.Arg1095Pro)
|
rs63750253
|
|
NM_000179.3(MSH6):c.3299C>T (p.Thr1100Met)
|
rs63750442
|
|
NM_000179.3(MSH6):c.3300G>C (p.Thr1100=)
|
rs540252208
|
|
NM_000179.3(MSH6):c.3312dup (p.Gly1105fs)
|
rs267608092
|
|
NM_000179.3(MSH6):c.3332_3335dup (p.Asp1112delinsGluTer)
|
rs587782562
|
|
NM_000179.3(MSH6):c.3354G>A (p.Glu1118=)
|
rs35642130
|
|
NM_000179.3(MSH6):c.339C>T (p.His113=)
|
rs886056141
|
|
NM_000179.3(MSH6):c.3401G>C (p.Gly1134Ala)
|
rs1376398586
|
|
NM_000179.3(MSH6):c.3416G>T (p.Gly1139Val)
|
rs1316409501
|
|
NM_000179.3(MSH6):c.3416del (p.Gly1139fs)
|
rs587781544
|
|
NM_000179.3(MSH6):c.3416dup (p.Lys1140fs)
|
rs587781544
|
|
NM_000179.3(MSH6):c.3437A>C (p.Gln1146Pro)
|
rs587779262
|
|
NM_000179.3(MSH6):c.3439-1G>T
|
rs587779263
|
|
NM_000179.3(MSH6):c.3439-2A>G
|
rs267608098
|
|
NM_000179.3(MSH6):c.3439-2_3556+1del
|
rs2104503689
|
|
NM_000179.3(MSH6):c.3456A>G (p.Val1152=)
|
rs750998416
|
|
NM_000179.3(MSH6):c.3477C>A (p.Tyr1159Ter)
|
rs398123231
|
|
NM_000179.3(MSH6):c.347A>G (p.Asp116Gly)
|
rs1553410255
|
|
NM_000179.3(MSH6):c.3513_3523del (p.Asp1171_Arg1172insTer)
|
rs1324100572
|
|
NM_000179.3(MSH6):c.3519_3522dup (p.Thr1175fs)
|
rs267608101
|
|
NM_000179.3(MSH6):c.3554_3556+2del
|
rs2104510085
|
|
NM_000179.3(MSH6):c.3557-18del
|
rs2104521005
|
|
NM_000179.3(MSH6):c.3557-1G>C
|
rs1114167723
|
|
NM_000179.3(MSH6):c.3557-3_3573del
|
rs2104521349
|
|
NM_000179.3(MSH6):c.3557-4del
|
rs267608102
|
|
NM_000179.3(MSH6):c.3573dup (p.Val1192fs)
|
rs1057517764
|
|
NM_000179.3(MSH6):c.3633dup (p.Val1212fs)
|
rs587776706
|
|
NM_000179.3(MSH6):c.3646+35_3646+38del
|
rs1805181
|
|
NM_000179.3(MSH6):c.3647-2_3991del
|
rs2104536268
|
|
NM_000179.3(MSH6):c.3647-6T>C
|
rs182871847
|
|
NM_000179.3(MSH6):c.3682G>C (p.Ala1228Pro)
|
rs587779283
|
|
NM_000179.3(MSH6):c.3691GTT[1] (p.Val1232del)
|
rs587779284
|
|
NM_000179.3(MSH6):c.3701_3706dup (p.Glu1234_Leu1235dup)
|
rs63750523
|
|
NM_000179.3(MSH6):c.3717A>T (p.Ile1239=)
|
rs1572744771
|
|
NM_000179.3(MSH6):c.3742_3745del (p.His1248fs)
|
rs1558392265
|
|
NM_000179.3(MSH6):c.3753_3756dup (p.Val1253fs)
|
rs876661222
|
|
NM_000179.3(MSH6):c.3758T>A (p.Val1253Glu)
|
rs202066386
|
|
NM_000179.3(MSH6):c.3801+3A>G
|
rs753049136
|
|
NM_000179.3(MSH6):c.3801G>A (p.Met1267Ile)
|
rs1670069736
|
|
NM_000179.3(MSH6):c.3840_3846del (p.Glu1281fs)
|
rs63751319
|
|
NM_000179.3(MSH6):c.3847_3850dup (p.Thr1284fs)
|
rs267608128
|
|
NM_000179.3(MSH6):c.3850dup (p.Thr1284fs)
|
rs1553333421
|
|
NM_000179.3(MSH6):c.3860_3873dup (p.Gly1292fs)
|
rs2104556388
|
|
NM_000179.3(MSH6):c.3863_3865dup (p.Phe1289Ter)
|
rs1670108675
|
|
NM_000179.3(MSH6):c.3880del (p.Cys1294fs)
|
rs2104557860
|
|
NM_000179.3(MSH6):c.3904_3921dup (p.Ala1302_Asn1307dup)
|
rs876661157
|
|
NM_000179.3(MSH6):c.3917_3938dup (p.Ile1313_Gln1314insTer)
|
rs1553333584
|
|
NM_000179.3(MSH6):c.3920_3927dup (p.Glu1310fs)
|
rs587779295
|
|
NM_000179.3(MSH6):c.3922_3940dup (p.Gln1314fs)
|
rs1553333598
|
|
NM_000179.3(MSH6):c.3932_3935dup (p.Ile1313fs)
|
rs267608127
|
|
NM_000179.3(MSH6):c.3934_3937dup (p.Ile1313fs)
|
rs760190301
|
|
NM_000179.3(MSH6):c.3938_3941dup (p.Gln1314fs)
|
rs267608126
|
|
NM_000179.3(MSH6):c.3940C>T (p.Gln1314Ter)
|
rs1416452389
|
|
NM_000179.3(MSH6):c.3946G>A (p.Gly1316Arg)
|
rs773675555
|
|
NM_000179.3(MSH6):c.394_395del (p.Gln132fs)
|
rs1668698146
|
|
NM_000179.3(MSH6):c.3957dup (p.Ala1320fs)
|
rs587779297
|
|
NM_000179.3(MSH6):c.3959_3962del (p.Ala1320fs)
|
rs267608120
|
|
NM_000179.3(MSH6):c.3964G>T (p.Glu1322Ter)
|
rs1553333707
|
|
NM_000179.3(MSH6):c.3966_3997del (p.Glu1322fs)
|
rs2104565663
|
|
NM_000179.3(MSH6):c.3971AGA[1] (p.Lys1325del)
|
rs587779300
|
|
NM_000179.3(MSH6):c.3980_3981delinsTCAG (p.Asn1327fs)
|
rs2104566954
|
|
NM_000179.3(MSH6):c.3980_3983dup (p.Leu1330fs)
|
rs1553333738
|
|
NM_000179.3(MSH6):c.3984_3987dup (p.Leu1330fs)
|
rs267608121
|
|
NM_000179.3(MSH6):c.4001+11_4001+19del
|
rs2104569281
|
|
NM_000179.3(MSH6):c.4001+2TAAC[2]
|
rs267608132
|
|
NM_000179.3(MSH6):c.4001+2TAAC[4]
|
rs267608132
|
|
NM_000179.3(MSH6):c.4001+4_4001+8dup
|
rs587782853
|
|
NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln)
|
rs267608122
|
|
NM_000179.3(MSH6):c.4002-10del
|
rs59056100
|
|
NM_000179.3(MSH6):c.4062_4065dup (p.Leu1356fs)
|
rs1553334056
|
|
NM_000179.3(MSH6):c.4068_4071dup (p.Lys1358delinsAspTer)
|
rs55740729
|
|
NM_000179.3(MSH6):c.432C>T (p.Ser144=)
|
rs1046304919
|
|
NM_000179.3(MSH6):c.442T>C (p.Leu148=)
|
rs2104111846
|
|
NM_000179.3(MSH6):c.457+1G>T
|
rs2104112957
|
|
NM_000179.3(MSH6):c.457G>A (p.Gly153Ser)
|
rs1060502885
|
|
NM_000179.3(MSH6):c.458-2_627+1del
|
rs2104227755
|
|
NM_000179.3(MSH6):c.467C>T (p.Ser156Leu)
|
rs63749873
|
|
NM_000179.3(MSH6):c.513A>G (p.Glu171=)
|
rs786201116
|
|
NM_000179.3(MSH6):c.597C>T (p.Pro199=)
|
rs1553411498
|
|
NM_000179.3(MSH6):c.628-13C>G
|
rs538280815
|
|
NM_000179.3(MSH6):c.628-15T>C
|
rs2104286570
|
|
NM_000179.3(MSH6):c.652A>T (p.Lys218Ter)
|
rs587779315
|
|
NM_000179.3(MSH6):c.694C>T (p.Gln232Ter)
|
rs587779318
|
|
NM_000179.3(MSH6):c.718C>T (p.Arg240Ter)
|
rs63750019
|
|
NM_000179.3(MSH6):c.741del (p.Lys247fs)
|
rs267608041
|
|
NM_000179.3(MSH6):c.755C>G (p.Ser252Ter)
|
rs267608048
|
|
NM_000179.3(MSH6):c.762_763del (p.Glu255_Ser256insTer)
|
rs267608072
|
|
NM_000179.3(MSH6):c.818G>A (p.Gly273Glu)
|
rs769610487
|
|
NM_000179.3(MSH6):c.866_867delinsAA (p.Gly289Glu)
|
rs267608079
|
|
NM_000179.3(MSH6):c.957G>A (p.Thr319=)
|
rs375210430
|
|
NM_000180.4(GUCY2D):c.693G>T (p.Arg231Ser)
|
rs759280279
|
|
NM_000195.5(HPS1):c.2017T>C (p.Ser673Pro)
|
rs1844268357
|
|
NM_000208.4(INSR):c.3964G>C (p.Glu1322Gln)
|
rs2144790104
|
|
NM_000208.4(INSR):c.698T>G (p.Leu233Arg)
|
rs387906539
|
|
NM_000212.3(ITGB3):c.517A>G (p.Ser173Gly)
|
rs2143092830
|
|
NM_000213.5(ITGB4):c.599C>T (p.Pro200Leu)
|
rs148770294
|
|
NM_000218.3(KCNQ1):c.1986C>T (p.Tyr662=)
|
rs11601907
|
|
NM_000218.3(KCNQ1):c.4G>A (p.Ala2Thr)
|
rs2133559329
|
|
NM_000226.4(KRT9):c.1648_1714del (p.His550fs)
|
rs2144567313
|
|
NM_000226.4(KRT9):c.718A>G (p.Arg240Gly)
|
rs2144570882
|
|
NM_000236.3(LIPC):c.775C>T (p.Leu259Phe)
|
rs890827794
|
|
NM_000238.4(KCNH2):c.704T>C (p.Val235Ala)
|
rs1801449629
|
|
NM_000243.3(MEFV):c.2040G>A (p.Met680Ile)
|
rs28940580
|
|
NM_000243.3(MEFV):c.414A>G (p.Gly138=)
|
rs224224
|
|
NM_000249.3(MLH1):c.1039-?_1558+?del
|
|
|
NM_000249.3(MLH1):c.1732-?_1896+?del
|
|
|
NM_000249.3(MLH1):c.307-?_1667+?dup
|
|
|
NM_000249.3(MLH1):c.381-?_677+?del
|
|
|
NM_000249.3(MLH1):c.546-?_1731+?dup
|
|
|
NM_000249.4(MLH1):c.*32CTT[1]
|
rs193922366
|
|
NM_000249.4(MLH1):c.-11C>A
|
rs776898290
|
|
NM_000249.4(MLH1):c.-2_116+1del
|
rs2125693258
|
|
NM_000249.4(MLH1):c.1011del (p.Asn338fs)
|
rs63750677
|
|
NM_000249.4(MLH1):c.1039-11_1039-8dup
|
rs57509953
|
|
NM_000249.4(MLH1):c.1039-2_1409+150del
|
rs2125879653
|
|
NM_000249.4(MLH1):c.1039-2_1409+1del
|
rs2125879720
|
|
NM_000249.4(MLH1):c.1039-6dup
|
rs1553650466
|
|
NM_000249.4(MLH1):c.1039-8_1039-7insTTTA
|
rs535965616
|
|
NM_000249.4(MLH1):c.1039-8_1039-7insTTTTTA
|
rs535965616
|
|
NM_000249.4(MLH1):c.1039-8_1039-7insTTTTTTTA
|
rs535965616
|
|
NM_000249.4(MLH1):c.1039-9_1039-8del
|
rs57509953
|
|
NM_000249.4(MLH1):c.104T>G (p.Met35Arg)
|
rs63749906
|
|
NM_000249.4(MLH1):c.1050del (p.Gly351fs)
|
rs587778883
|
|
NM_000249.4(MLH1):c.1082A>T (p.Lys361Ile)
|
rs2125880713
|
|
NM_000249.4(MLH1):c.109G>A (p.Glu37Lys)
|
rs63751012
|
|
NM_000249.4(MLH1):c.116+3A>G
|
rs1553637475
|
|
NM_000249.4(MLH1):c.116+5G>C
|
rs267607710
|
|
NM_000249.4(MLH1):c.117-2_207+1del
|
rs2125710594
|
|
NM_000249.4(MLH1):c.1178T>C (p.Leu393Pro)
|
rs786203413
|
|
NM_000249.4(MLH1):c.1190del (p.Leu397fs)
|
rs63750749
|
|
NM_000249.4(MLH1):c.1196C>T (p.Pro399Leu)
|
rs1553650970
|
|
NM_000249.4(MLH1):c.1203C>G (p.Ser401Arg)
|
rs2125883242
|
|
NM_000249.4(MLH1):c.1217_1223dup (p.Gln409fs)
|
rs587778899
|
|
NM_000249.4(MLH1):c.1219C>T (p.Gln407Ter)
|
rs1057517541
|
|
NM_000249.4(MLH1):c.1238_1239del (p.Thr413fs)
|
rs1553651073
|
|
NM_000249.4(MLH1):c.1253A>G (p.Asp418Gly)
|
rs754898711
|
|
NM_000249.4(MLH1):c.1266C>T (p.Gly422=)
|
rs63750791
|
|
NM_000249.4(MLH1):c.126A>G (p.Ala42=)
|
rs1385176857
|
|
NM_000249.4(MLH1):c.1270del (p.Ala424fs)
|
rs2125884473
|
|
NM_000249.4(MLH1):c.1275dup (p.Gln426fs)
|
rs2125884574
|
|
NM_000249.4(MLH1):c.131_132delinsTT (p.Ser44Phe)
|
rs2125710774
|
|
NM_000249.4(MLH1):c.1325_1346delinsATTTT (p.Ala442fs)
|
rs587778903
|
|
NM_000249.4(MLH1):c.1355C>T (p.Thr452Ile)
|
rs1575538276
|
|
NM_000249.4(MLH1):c.1358dup (p.Thr455fs)
|
rs1553651429
|
|
NM_000249.4(MLH1):c.1367del (p.Thr455_Ser456insTer)
|
rs2125886267
|
|
NM_000249.4(MLH1):c.1410-2_1558+1del
|
rs2125901101
|
|
NM_000249.4(MLH1):c.1420C>T (p.Arg474Trp)
|
rs147939838
|
|
NM_000249.4(MLH1):c.1453G>T (p.Asp485Tyr)
|
rs63750314
|
|
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter)
|
rs63749795
|
|
NM_000249.4(MLH1):c.1489dup (p.Arg497fs)
|
rs63750855
|
|
NM_000249.4(MLH1):c.1504A>G (p.Asn502Asp)
|
rs2125902825
|
|
NM_000249.4(MLH1):c.1558+1dup
|
rs1553653237
|
|
NM_000249.4(MLH1):c.1559-1G>A
|
rs267607837
|
|
NM_000249.4(MLH1):c.1559-1G>T
|
rs267607837
|
|
NM_000249.4(MLH1):c.1559-2A>G
|
rs267607836
|
|
NM_000249.4(MLH1):c.1559-2_1667+1del
|
rs2125943381
|
|
NM_000249.4(MLH1):c.1559-4_1667+63del
|
rs2125943327
|
|
NM_000249.4(MLH1):c.1571T>G (p.Met524Arg)
|
rs2125943700
|
|
NM_000249.4(MLH1):c.1572G>C (p.Met524Ile)
|
rs587779953
|
|
NM_000249.4(MLH1):c.1573T>C (p.Leu525=)
|
rs63750137
|
|
NM_000249.4(MLH1):c.1609C>T (p.Gln537Ter)
|
rs63751277
|
|
NM_000249.4(MLH1):c.1615G>A (p.Ala539Thr)
|
rs1559575256
|
|
NM_000249.4(MLH1):c.1664T>G (p.Leu555Arg)
|
rs587778937
|
|
NM_000249.4(MLH1):c.1667+2T>C
|
rs878853780
|
|
NM_000249.4(MLH1):c.1667+4A>G
|
rs983986337
|
|
NM_000249.4(MLH1):c.1667+8A>C
|
rs1553658260
|
|
NM_000249.4(MLH1):c.1668-1G>A
|
rs267607845
|
|
NM_000249.4(MLH1):c.1668-3C>A
|
rs267607844
|
|
NM_000249.4(MLH1):c.1714G>A (p.Gly572Ser)
|
rs587781796
|
|
NM_000249.4(MLH1):c.1731G>A (p.Ser577=)
|
rs63751657
|
|
NM_000249.4(MLH1):c.1732-1G>A
|
rs267607854
|
|
NM_000249.4(MLH1):c.1732-2_1896+1del
|
rs2125984067
|
|
NM_000249.4(MLH1):c.1769T>G (p.Leu590Ter)
|
rs1553662753
|
|
NM_000249.4(MLH1):c.1770_1772delinsC (p.Leu590fs)
|
rs2125984594
|
|
NM_000249.4(MLH1):c.1790G>A (p.Trp597Ter)
|
rs63750604
|
|
NM_000249.4(MLH1):c.1816G>C (p.Gly606Arg)
|
rs2125985111
|
|
NM_000249.4(MLH1):c.1831_1832del (p.Ile611fs)
|
rs63750150
|
|
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del)
|
rs63751247
|
|
NM_000249.4(MLH1):c.184C>T (p.Gln62Ter)
|
rs63751428
|
|
NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala)
|
rs35502531
|
|
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr)
|
rs63750449
|
|
NM_000249.4(MLH1):c.1853A>T (p.Lys618Met)
|
rs63750449
|
|
NM_000249.4(MLH1):c.1896+1G>C
|
rs267607867
|
|
NM_000249.4(MLH1):c.1896G>A (p.Glu632=)
|
rs63751632
|
|
NM_000249.4(MLH1):c.1918C>T (p.Pro640Ser)
|
rs63749792
|
|
NM_000249.4(MLH1):c.1919C>T (p.Pro640Leu)
|
rs267607875
|
|
NM_000249.4(MLH1):c.1922_1932del (p.Leu641fs)
|
rs2125990289
|
|
NM_000249.4(MLH1):c.1923del (p.Leu641_Leu642insTer)
|
rs1553663834
|
|
NM_000249.4(MLH1):c.194G>T (p.Gly65Val)
|
rs63751465
|
|
NM_000249.4(MLH1):c.1952A>T (p.Glu651Val)
|
rs2125990704
|
|
NM_000249.4(MLH1):c.195C>T (p.Gly65=)
|
rs2125711645
|
|
NM_000249.4(MLH1):c.1975C>T (p.Arg659Ter)
|
rs63751310
|
|
NM_000249.4(MLH1):c.1989G>T (p.Glu663Asp)
|
rs63751662
|
|
NM_000249.4(MLH1):c.1999del (p.Asp667fs)
|
rs2125992965
|
|
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg)
|
rs63750206
|
|
NM_000249.4(MLH1):c.2009_2013del (p.Lys670fs)
|
rs1553664353
|
|
NM_000249.4(MLH1):c.2020G>A (p.Glu674Lys)
|
rs755577490
|
|
NM_000249.4(MLH1):c.2031del (p.Ser677fs)
|
rs2125993448
|
|
NM_000249.4(MLH1):c.2035G>T (p.Glu679Ter)
|
rs587778971
|
|
NM_000249.4(MLH1):c.2038T>C (p.Cys680Arg)
|
rs63750809
|
|
NM_000249.4(MLH1):c.2040C>A (p.Cys680Ter)
|
rs63749867
|
|
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr)
|
rs63750217
|
|
NM_000249.4(MLH1):c.2048T>C (p.Phe683Ser)
|
rs587778972
|
|
NM_000249.4(MLH1):c.2048_2050del (p.Phe683del)
|
rs1553664506
|
|
NM_000249.4(MLH1):c.2050_2071delinsATTTT (p.Tyr684fs)
|
rs2125993807
|
|
NM_000249.4(MLH1):c.2061G>A (p.Arg687=)
|
rs1553664545
|
|
NM_000249.4(MLH1):c.208-3C>T
|
rs267607720
|
|
NM_000249.4(MLH1):c.2084C>T (p.Ser695Leu)
|
rs63749995
|
|
NM_000249.4(MLH1):c.2091C>T (p.Leu697=)
|
rs536488280
|
|
NM_000249.4(MLH1):c.2103+1G>A
|
rs267607888
|
|
NM_000249.4(MLH1):c.2126C>T (p.Pro709Leu)
|
rs2085619841
|
|
NM_000249.4(MLH1):c.2131dup (p.Ser711fs)
|
rs2148522538
|
|
NM_000249.4(MLH1):c.2170T>C (p.Leu724=)
|
rs63749875
|
|
NM_000249.4(MLH1):c.2190del (p.Pro731fs)
|
rs587780683
|
|
NM_000249.4(MLH1):c.2194A>T (p.Lys732Ter)
|
rs267607906
|
|
NM_000249.4(MLH1):c.2246T>C (p.Leu749Pro)
|
rs267607894
|
|
NM_000249.4(MLH1):c.2247A>G (p.Leu749=)
|
rs786202209
|
|
NM_000249.4(MLH1):c.2250C>G (p.Tyr750Ter)
|
rs267607893
|
|
NM_000249.4(MLH1):c.2252_2253del (p.Lys751fs)
|
rs267607901
|
|
NM_000249.4(MLH1):c.2258_2259dup (p.Glu754fs)
|
rs1060500698
|
|
NM_000249.4(MLH1):c.229T>C (p.Cys77Arg)
|
rs63749859
|
|
NM_000249.4(MLH1):c.230G>A (p.Cys77Tyr)
|
rs63750437
|
|
NM_000249.4(MLH1):c.250A>G (p.Lys84Glu)
|
rs63750641
|
|
NM_000249.4(MLH1):c.290A>G (p.Tyr97Cys)
|
rs773647920
|
|
NM_000249.4(MLH1):c.292_293delinsTT (p.Gly98Phe)
|
rs1553640314
|
|
NM_000249.4(MLH1):c.293G>A (p.Gly98Asp)
|
rs863225382
|
|
NM_000249.4(MLH1):c.301G>A (p.Gly101Ser)
|
rs267607726
|
|
NM_000249.4(MLH1):c.304G>A (p.Glu102Lys)
|
rs63750453
|
|
NM_000249.4(MLH1):c.306+2T>G
|
rs1553640340
|
|
NM_000249.4(MLH1):c.306G>T (p.Glu102Asp)
|
rs63751665
|
|
NM_000249.4(MLH1):c.319A>G (p.Ile107Val)
|
rs572906317
|
|
NM_000249.4(MLH1):c.322_335del (p.Ser108fs)
|
rs1553641269
|
|
NM_000249.4(MLH1):c.332C>T (p.Ala111Val)
|
rs63750539
|
|
NM_000249.4(MLH1):c.346del (p.Thr116fs)
|
rs63750906
|
|
NM_000249.4(MLH1):c.350C>T (p.Thr117Met)
|
rs63750781
|
|
NM_000249.4(MLH1):c.365del (p.Gly122fs)
|
rs2125757477
|
|
NM_000249.4(MLH1):c.374C>A (p.Ala125Glu)
|
rs1553641362
|
|
NM_000249.4(MLH1):c.37G>A (p.Glu13Lys)
|
rs587779008
|
|
NM_000249.4(MLH1):c.380+1G>A
|
rs267607745
|
|
NM_000249.4(MLH1):c.380+2T>C
|
rs267607742
|
|
NM_000249.4(MLH1):c.38_39insCCCA (p.Glu13fs)
|
rs63750057
|
|
NM_000249.4(MLH1):c.3G>A (p.Met1Ile)
|
rs72481822
|
|
NM_000249.4(MLH1):c.453+1G>T
|
rs267607750
|
|
NM_000249.4(MLH1):c.454-13A>G
|
rs267607749
|
|
NM_000249.4(MLH1):c.456_545+2del
|
rs1553642657
|
|
NM_000249.4(MLH1):c.460del (p.Asp154fs)
|
rs1575448385
|
|
NM_000249.4(MLH1):c.492del (p.Ala165fs)
|
rs1553642698
|
|
NM_000249.4(MLH1):c.497T>G (p.Leu166Ter)
|
rs267607755
|
|
NM_000249.4(MLH1):c.544A>G (p.Arg182Gly)
|
rs63750211
|
|
NM_000249.4(MLH1):c.546-2_589-59del
|
rs2125805231
|
|
NM_000249.4(MLH1):c.55A>T (p.Ile19Phe)
|
rs63750648
|
|
NM_000249.4(MLH1):c.588+1G>C
|
rs267607772
|
|
NM_000249.4(MLH1):c.588+5G>A
|
rs267607768
|
|
NM_000249.4(MLH1):c.588del (p.Lys196fs)
|
rs63751653
|
|
NM_000249.4(MLH1):c.589C>T (p.Gln197Ter)
|
rs1553644123
|
|
NM_000249.4(MLH1):c.604del (p.Ala202fs)
|
rs1553644155
|
|
NM_000249.4(MLH1):c.631_632del (p.Ser211fs)
|
rs2125808812
|
|
NM_000249.4(MLH1):c.665del (p.Asn222fs)
|
rs63750385
|
|
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter)
|
rs63751615
|
|
NM_000249.4(MLH1):c.677+1G>T
|
rs267607778
|
|
NM_000249.4(MLH1):c.677+3A>G
|
rs267607780
|
|
NM_000249.4(MLH1):c.677G>A (p.Arg226Gln)
|
rs63751711
|
|
NM_000249.4(MLH1):c.677G>T (p.Arg226Leu)
|
rs63751711
|
|
NM_000249.4(MLH1):c.67del (p.Glu23fs)
|
rs63750822
|
|
NM_000249.4(MLH1):c.694G>A (p.Gly232Arg)
|
rs1553645131
|
|
NM_000249.4(MLH1):c.696_698del (p.Cys233del)
|
rs1575480253
|
|
NM_000249.4(MLH1):c.70del (p.Val24fs)
|
rs63751396
|
|
NM_000249.4(MLH1):c.731G>A (p.Gly244Asp)
|
rs63750303
|
|
NM_000249.4(MLH1):c.753_755del (p.Tyr251_Ser252delinsTer)
|
rs1553645256
|
|
NM_000249.4(MLH1):c.754T>C (p.Ser252Pro)
|
rs876661260
|
|
NM_000249.4(MLH1):c.772T>C (p.Phe258Leu)
|
rs2125823165
|
|
NM_000249.4(MLH1):c.790+1G>A
|
rs267607789
|
|
NM_000249.4(MLH1):c.790+2T>C
|
rs267607790
|
|
NM_000249.4(MLH1):c.790+4A>G
|
rs267607786
|
|
NM_000249.4(MLH1):c.791-1G>A
|
rs267607795
|
|
NM_000249.4(MLH1):c.793C>A (p.Arg265Ser)
|
rs63751194
|
|
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys)
|
rs63751194
|
|
NM_000249.4(MLH1):c.794G>C (p.Arg265Pro)
|
rs63751448
|
|
NM_000249.4(MLH1):c.827_831del (p.Ile276fs)
|
rs1553646669
|
|
NM_000249.4(MLH1):c.844G>A (p.Ala282Thr)
|
rs774689817
|
|
NM_000249.4(MLH1):c.864A>C (p.Thr288=)
|
rs1457205659
|
|
NM_000249.4(MLH1):c.883A>C (p.Ser295Arg)
|
rs63751598
|
|
NM_000249.4(MLH1):c.883A>G (p.Ser295Gly)
|
rs63751598
|
|
NM_000249.4(MLH1):c.884+3A>G
|
rs267607803
|
|
NM_000249.4(MLH1):c.885-21TC[2]
|
rs267607804
|
|
NM_000249.4(MLH1):c.898_908del (p.Pro300fs)
|
rs1553647928
|
|
NM_000249.4(MLH1):c.908T>G (p.Val303Gly)
|
rs267607813
|
|
NM_000249.4(MLH1):c.908_909del (p.Val303fs)
|
rs1553647947
|
|
NM_000249.4(MLH1):c.927C>T (p.Pro309=)
|
rs63749896
|
|
NM_000249.4(MLH1):c.949del (p.Leu317fs)
|
rs1553648029
|
|
NM_000249.4(MLH1):c.970G>T (p.Glu324Ter)
|
rs1553648068
|
|
NM_000249.4(MLH1):c.995_996insA (p.Ser332fs)
|
rs2125854201
|
|
NM_000250.2(MPO):c.2047G>C (p.Glu683Gln)
|
rs35702888
|
|
NM_000251.2(MSH2):c.1662-?_1759+?del
|
|
|
NM_000251.2(MSH2):c.1760-?_2458+?del
|
|
|
NM_000251.2(MSH2):c.2006-?_2210+?del
|
|
|
NM_000251.2(MSH2):c.367-?_1076+?del
|
|
|
NM_000251.2(MSH2):c.367-?_1276+?del
|
|
|
NM_000251.2(MSH2):c.367-?_1386+?del
|
|
|
NM_000251.2(MSH2):c.367-?_645+?del
|
|
|
NM_000251.2(MSH2):c.943-?_1076+?del
|
|
|
NM_000251.3(MSH2):c.-1_211+1177del
|
|
|
NM_000251.3(MSH2):c.-1_212-2403del
|
|
|
NM_000251.3(MSH2):c.-2_211+156del
|
rs2103865247
|
|
NM_000251.3(MSH2):c.-2_211+1del
|
rs2103865151
|
|
NM_000251.3(MSH2):c.-4_211+864del
|
|
|
NM_000251.3(MSH2):c.1012G>A (p.Gly338Arg)
|
rs63751004
|
|
NM_000251.3(MSH2):c.1018dup (p.Arg340fs)
|
rs63750703
|
|
NM_000251.3(MSH2):c.1024G>A (p.Val342Ile)
|
rs63749879
|
|
NM_000251.3(MSH2):c.1043A>G (p.Gln348Arg)
|
rs773177076
|
|
NM_000251.3(MSH2):c.1045C>A (p.Pro349Thr)
|
rs267607939
|
|
NM_000251.3(MSH2):c.1067T>G (p.Ile356Arg)
|
rs753075410
|
|
NM_000251.3(MSH2):c.1077-2_1276+1del
|
rs2104435254
|
|
NM_000251.3(MSH2):c.1077_1276del
|
rs1553356518
|
|
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter)
|
rs63749849
|
|
NM_000251.3(MSH2):c.1163dup (p.Asn388fs)
|
rs2104439295
|
|
NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter)
|
rs587779075
|
|
NM_000251.3(MSH2):c.1189C>T (p.Gln397Ter)
|
rs63750611
|
|
NM_000251.3(MSH2):c.1215C>G (p.Tyr405Ter)
|
rs63751271
|
|
NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter)
|
rs63751108
|
|
NM_000251.3(MSH2):c.1222dup (p.Tyr408fs)
|
rs63751142
|
|
NM_000251.3(MSH2):c.1226_1227del (p.Gln409fs)
|
rs63750086
|
|
NM_000251.3(MSH2):c.1276+1G>A
|
rs267607950
|
|
NM_000251.3(MSH2):c.1277-12A>T
|
rs1181142850
|
|
NM_000251.3(MSH2):c.1277-13T>A
|
rs1553361114
|
|
NM_000251.3(MSH2):c.1277-15A>T
|
rs1553361106
|
|
NM_000251.3(MSH2):c.1277-2_1386+1del
|
rs2103751857
|
|
NM_000251.3(MSH2):c.1278_1386+1del
|
rs1553361141
|
|
NM_000251.3(MSH2):c.1285C>T (p.Gln429Ter)
|
rs63751693
|
|
NM_000251.3(MSH2):c.128A>T (p.Tyr43Phe)
|
rs17217723
|
|
NM_000251.3(MSH2):c.1299G>A (p.Leu433=)
|
rs1573519281
|
|
NM_000251.3(MSH2):c.1321A>G (p.Thr441Ala)
|
rs587779086
|
|
NM_000251.3(MSH2):c.1327C>G (p.Leu443Val)
|
rs876659906
|
|
NM_000251.3(MSH2):c.136_164del (p.His46fs)
|
rs63751482
|
|
NM_000251.3(MSH2):c.1373T>G (p.Leu458Ter)
|
rs63750521
|
|
NM_000251.3(MSH2):c.1386+1G>A
|
rs267607957
|
|
NM_000251.3(MSH2):c.1387-2del
|
rs2104082025
|
|
NM_000251.3(MSH2):c.1387-5_1510+1293del
|
|
|
NM_000251.3(MSH2):c.1387-9T>A
|
rs587779087
|
|
NM_000251.3(MSH2):c.1399G>T (p.Glu467Ter)
|
rs587779089
|
|
NM_000251.3(MSH2):c.1413A>C (p.Lys471Asn)
|
rs745874745
|
|
NM_000251.3(MSH2):c.1418C>G (p.Ser473Ter)
|
rs63751403
|
|
NM_000251.3(MSH2):c.142G>T (p.Glu48Ter)
|
rs63750615
|
|
NM_000251.3(MSH2):c.1444dup (p.Arg482fs)
|
rs63750068
|
|
NM_000251.3(MSH2):c.1457_1460del (p.Asn486fs)
|
rs1114167806
|
|
NM_000251.3(MSH2):c.1477C>T (p.Gln493Ter)
|
rs63750936
|
|
NM_000251.3(MSH2):c.1497A>G (p.Ala499=)
|
rs1357985821
|
|
NM_000251.3(MSH2):c.1534_1543del (p.Lys512fs)
|
rs1553366522
|
|
NM_000251.3(MSH2):c.1552_1553del (p.Gln518fs)
|
rs63749930
|
|
NM_000251.3(MSH2):c.1557del (p.Phe519fs)
|
rs1553366554
|
|
NM_000251.3(MSH2):c.1560dup (p.Tyr521fs)
|
rs1553366561
|
|
NM_000251.3(MSH2):c.1566C>G (p.Tyr522Ter)
|
rs63750224
|
|
NM_000251.3(MSH2):c.163del (p.Arg55fs)
|
rs63750337
|
|
NM_000251.3(MSH2):c.1656del (p.Asn553fs)
|
rs1114167817
|
|
NM_000251.3(MSH2):c.1661+5G>C
|
rs267607972
|
|
NM_000251.3(MSH2):c.1661+6C>A
|
rs267607973
|
|
NM_000251.3(MSH2):c.1661G>C (p.Ser554Thr)
|
rs63750597
|
|
NM_000251.3(MSH2):c.1662-1_1759+1048del
|
|
|
NM_000251.3(MSH2):c.1662-2_1759+1del
|
rs2104272766
|
|
NM_000251.3(MSH2):c.1681_1682dup (p.Glu562fs)
|
rs1553367608
|
|
NM_000251.3(MSH2):c.1705_1706del (p.Glu569fs)
|
rs63750393
|
|
NM_000251.3(MSH2):c.1748A>T (p.Asn583Ile)
|
rs201118107
|
|
NM_000251.3(MSH2):c.1760-3_2005+453del
|
rs2104334736
|
|
NM_000251.3(MSH2):c.1760-3_2006-297del
|
|
|
NM_000251.3(MSH2):c.1760-3_2006-300del
|
|
|
NM_000251.3(MSH2):c.1786_1788del (p.Asn596del)
|
rs63749831
|
|
NM_000251.3(MSH2):c.1787ATG[1] (p.Asp597del)
|
rs2104336938
|
|
NM_000251.3(MSH2):c.1805T>C (p.Leu602Pro)
|
rs1553368561
|
|
NM_000251.3(MSH2):c.1807G>A (p.Asp603Asn)
|
rs63750657
|
|
NM_000251.3(MSH2):c.1825G>C (p.Ala609Pro)
|
rs150980616
|
|
NM_000251.3(MSH2):c.1835C>G (p.Ser612Ter)
|
rs63750493
|
|
NM_000251.3(MSH2):c.1882G>T (p.Gly628Ter)
|
rs371776176
|
|
NM_000251.3(MSH2):c.1901T>G (p.Leu634Ter)
|
rs1114167811
|
|
NM_000251.3(MSH2):c.1937A>G (p.Asp646Gly)
|
rs41295290
|
|
NM_000251.3(MSH2):c.197_211+199del
|
rs2103881526
|
|
NM_000251.3(MSH2):c.1984C>T (p.Gln662Ter)
|
rs786204321
|
|
NM_000251.3(MSH2):c.1986_1987del (p.Gln662fs)
|
rs587779122
|
|
NM_000251.3(MSH2):c.1A>C (p.Met1Leu)
|
rs267607911
|
|
NM_000251.3(MSH2):c.1_211+1068del
|
|
|
NM_000251.3(MSH2):c.2005+2T>G
|
rs267607987
|
|
NM_000251.3(MSH2):c.2005+3_2005+13del
|
rs2104351277
|
|
NM_000251.3(MSH2):c.2005+3_2005+14del
|
rs587779125
|
|
NM_000251.3(MSH2):c.2005+8dup
|
rs267607992
|
|
NM_000251.3(MSH2):c.2005G>T (p.Gly669Cys)
|
rs63751668
|
|
NM_000251.3(MSH2):c.2006-12T>G
|
rs2104367663
|
|
NM_000251.3(MSH2):c.2006-2_2210+1del
|
rs2104368001
|
|
NM_000251.3(MSH2):c.2027C>T (p.Ser676Leu)
|
rs1057520735
|
|
NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter)
|
rs63749932
|
|
NM_000251.3(MSH2):c.2063T>G (p.Met688Arg)
|
rs63749993
|
|
NM_000251.3(MSH2):c.2064_2065delinsAA (p.Met688_Ala689delinsIleThr)
|
rs2104371537
|
|
NM_000251.3(MSH2):c.2075G>A (p.Gly692Glu)
|
rs63751432
|
|
NM_000251.3(MSH2):c.2075G>T (p.Gly692Val)
|
rs63751432
|
|
NM_000251.3(MSH2):c.2081T>C (p.Phe694Ser)
|
rs1114167857
|
|
NM_000251.3(MSH2):c.2082del (p.Phe694fs)
|
rs63750689
|
|
NM_000251.3(MSH2):c.2087C>T (p.Pro696Leu)
|
rs267607994
|
|
NM_000251.3(MSH2):c.2100del (p.Glu701fs)
|
rs1553369113
|
|
NM_000251.3(MSH2):c.211+1G>T
|
rs1114167883
|
|
NM_000251.3(MSH2):c.211G>C (p.Gly71Arg)
|
rs587782659
|
|
NM_000251.3(MSH2):c.212-1_366+1dup
|
rs2103975062
|
|
NM_000251.3(MSH2):c.212-1_366+712del
|
rs2103974925
|
|
NM_000251.3(MSH2):c.212-2_366+1del
|
rs2103974901
|
|
NM_000251.3(MSH2):c.212-4_363del
|
rs2103974611
|
|
NM_000251.3(MSH2):c.212-4del
|
rs746333570
|
|
NM_000251.3(MSH2):c.2135dup (p.Gly713fs)
|
rs63751453
|
|
NM_000251.3(MSH2):c.213_366+1del
|
rs1553350052
|
|
NM_000251.3(MSH2):c.2145del (p.Asp716fs)
|
rs1553369164
|
|
NM_000251.3(MSH2):c.2147A>G (p.Asp716Gly)
|
rs2104376248
|
|
NM_000251.3(MSH2):c.2148del (p.Asp716fs)
|
rs1553369165
|
|
NM_000251.3(MSH2):c.2152C>T (p.Gln718Ter)
|
rs587779139
|
|
NM_000251.3(MSH2):c.2165T>C (p.Val722Ala)
|
rs2104377193
|
|
NM_000251.3(MSH2):c.2182_2199del (p.Glu728_Ala733del)
|
rs1553369194
|
|
NM_000251.3(MSH2):c.2210+11_2210+22del
|
rs730881782
|
|
NM_000251.3(MSH2):c.2211-2A>G
|
rs267608001
|
|
NM_000251.3(MSH2):c.2211-2A>T
|
rs267608001
|
|
NM_000251.3(MSH2):c.2228C>A (p.Ser743Ter)
|
rs63751155
|
|
NM_000251.3(MSH2):c.2228C>G (p.Ser743Ter)
|
rs63751155
|
|
NM_000251.3(MSH2):c.2266_2267insAGA (p.Ser755_Thr756insLys)
|
rs1553369686
|
|
NM_000251.3(MSH2):c.2280del (p.Phe760fs)
|
rs2104401876
|
|
NM_000251.3(MSH2):c.229_230del (p.Ser77fs)
|
rs63749848
|
|
NM_000251.3(MSH2):c.2375A>G (p.Asn792Ser)
|
rs587782891
|
|
NM_000251.3(MSH2):c.2401C>T (p.His801Tyr)
|
rs1573574512
|
|
NM_000251.3(MSH2):c.2425G>T (p.Glu809Ter)
|
rs202145681
|
|
NM_000251.3(MSH2):c.2439G>C (p.Met813Ile)
|
rs587781678
|
|
NM_000251.3(MSH2):c.2444del (p.Tyr815fs)
|
rs2104409719
|
|
NM_000251.3(MSH2):c.2472_2473del (p.Ser825fs)
|
rs1553370310
|
|
NM_000251.3(MSH2):c.2480G>A (p.Gly827Glu)
|
rs2104435371
|
|
NM_000251.3(MSH2):c.2484dup (p.His829fs)
|
rs1553370324
|
|
NM_000251.3(MSH2):c.2498T>A (p.Leu833His)
|
rs1573578539
|
|
NM_000251.3(MSH2):c.2516A>C (p.His839Pro)
|
rs63750027
|
|
NM_000251.3(MSH2):c.2525_2526del (p.Glu842fs)
|
rs587779148
|
|
NM_000251.3(MSH2):c.2572G>A (p.Gly858Arg)
|
rs754533481
|
|
NM_000251.3(MSH2):c.2575G>T (p.Glu859Ter)
|
rs63749830
|
|
NM_000251.3(MSH2):c.2580G>T (p.Ser860=)
|
rs752428475
|
|
NM_000251.3(MSH2):c.2630G>A (p.Arg877Lys)
|
rs1573579234
|
|
NM_000251.3(MSH2):c.2633_2634del (p.Glu878fs)
|
rs63751618
|
|
NM_000251.3(MSH2):c.2635-3_2805del
|
rs2104459054
|
|
NM_000251.3(MSH2):c.2647dup (p.Ile883fs)
|
rs63750084
|
|
NM_000251.3(MSH2):c.2656G>T (p.Glu886Ter)
|
rs1230083633
|
|
NM_000251.3(MSH2):c.2662C>T (p.Leu888=)
|
rs1667578174
|
|
NM_000251.3(MSH2):c.2662del (p.Leu888fs)
|
rs63751007
|
|
NM_000251.3(MSH2):c.266del (p.Val89fs)
|
rs2103978746
|
|
NM_000251.3(MSH2):c.2684C>T (p.Pro895Leu)
|
rs786203553
|
|
NM_000251.3(MSH2):c.2714C>T (p.Thr905Ile)
|
rs267608022
|
|
NM_000251.3(MSH2):c.2717T>G (p.Ile906Arg)
|
rs587780687
|
|
NM_000251.3(MSH2):c.2801C>T (p.Thr934Met)
|
rs587779969
|
|
NM_000251.3(MSH2):c.308A>G (p.Tyr103Cys)
|
rs63751173
|
|
NM_000251.3(MSH2):c.328A>C (p.Lys110Gln)
|
rs587779970
|
|
NM_000251.3(MSH2):c.332C>T (p.Ala111Val)
|
rs1672561306
|
|
NM_000251.3(MSH2):c.367-28A>G
|
rs748645813
|
|
NM_000251.3(MSH2):c.367-2_645+1del
|
rs2104016560
|
|
NM_000251.3(MSH2):c.367-2_645+432del
|
rs2104016448
|
|
NM_000251.3(MSH2):c.367-2_645+742del
|
|
|
NM_000251.3(MSH2):c.367-3_645+631del
|
rs2104016493
|
|
NM_000251.3(MSH2):c.387_388del (p.Gln130fs)
|
rs63750924
|
|
NM_000251.3(MSH2):c.403C>G (p.Leu135Val)
|
rs193096019
|
|
NM_000251.3(MSH2):c.424T>G (p.Ser142Ala)
|
rs1064795714
|
|
NM_000251.3(MSH2):c.448G>T (p.Val150Phe)
|
rs1558459157
|
|
NM_000251.3(MSH2):c.459del (p.Ala154fs)
|
rs2104023773
|
|
NM_000251.3(MSH2):c.475dup (p.Arg159fs)
|
rs786204319
|
|
NM_000251.3(MSH2):c.490G>T (p.Gly164Trp)
|
rs63750582
|
|
NM_000251.3(MSH2):c.508C>T (p.Gln170Ter)
|
rs63750843
|
|
NM_000251.3(MSH2):c.518T>C (p.Leu173Pro)
|
rs63750070
|
|
NM_000251.3(MSH2):c.560T>C (p.Leu187Pro)
|
rs63751444
|
|
NM_000251.3(MSH2):c.568CTC[1] (p.Leu191del)
|
rs587779165
|
|
NM_000251.3(MSH2):c.613_616dup (p.Thr206fs)
|
rs1553350946
|
|
NM_000251.3(MSH2):c.628_629del (p.Met210fs)
|
rs1553350966
|
|
NM_000251.3(MSH2):c.638T>A (p.Leu213Gln)
|
rs1553350974
|
|
NM_000251.3(MSH2):c.645+1G>A
|
rs267607689
|
|
NM_000251.3(MSH2):c.645+1G>C
|
rs267607689
|
|
NM_000251.3(MSH2):c.646-1_648del
|
rs1553351549
|
|
NM_000251.3(MSH2):c.646-1_792+486del
|
rs2104097954
|
|
NM_000251.3(MSH2):c.648_650del (p.Ile217del)
|
rs1553351554
|
|
NM_000251.3(MSH2):c.659G>A (p.Gly220Glu)
|
rs1573446509
|
|
NM_000251.3(MSH2):c.67T>C (p.Phe23Leu)
|
rs372619120
|
|
NM_000251.3(MSH2):c.687_688insT (p.Ala230fs)
|
rs63750364
|
|
NM_000251.3(MSH2):c.687del (p.Ala230fs)
|
rs63749897
|
|
NM_000251.3(MSH2):c.687dup (p.Ala230fs)
|
rs63749897
|
|
NM_000251.3(MSH2):c.696_697del (p.Ser233fs)
|
rs63750426
|
|
NM_000251.3(MSH2):c.70C>T (p.Gln24Ter)
|
rs587779976
|
|
NM_000251.3(MSH2):c.715C>T (p.Gln239Ter)
|
rs63750488
|
|
NM_000251.3(MSH2):c.731T>C (p.Leu244Ser)
|
rs1553351657
|
|
NM_000251.3(MSH2):c.741C>A (p.Gly247=)
|
rs747321505
|
|
NM_000251.3(MSH2):c.792+1G>C
|
rs267607934
|
|
NM_000251.3(MSH2):c.793-2_943-14del
|
|
|
NM_000251.3(MSH2):c.811_814del (p.Ser271fs)
|
rs587779185
|
|
NM_000251.3(MSH2):c.836T>C (p.Leu279Pro)
|
rs1024743168
|
|
NM_000251.3(MSH2):c.892C>T (p.Gln298Ter)
|
rs63750934
|
|
NM_000251.3(MSH2):c.92C>G (p.Thr31Ser)
|
rs746635262
|
|
NM_000251.3(MSH2):c.935T>C (p.Leu312Pro)
|
rs2104180665
|
|
NM_000251.3(MSH2):c.943-2A>G
|
rs587779198
|
|
NM_000251.3(MSH2):c.943-2_1076+1del
|
rs2104242036
|
|
NM_000251.3(MSH2):c.965G>T (p.Gly322Val)
|
rs4987188
|
|
NM_000251.3(MSH2):c.965del (p.Gly322fs)
|
rs2104243932
|
|
NM_000251.3(MSH2):c.970C>T (p.Gln324Ter)
|
rs63750502
|
|
NM_000251.3(MSH2):c.998G>A (p.Cys333Tyr)
|
rs63750828
|
|
NM_000251.3(MSH2):c.999dup (p.Lys334Ter)
|
rs2104247370
|
|
NM_000253.4(MTTP):c.-149C>A
|
rs886058955
|
|
NM_000257.4(MYH7):c.2400G>T (p.Glu800Asp)
|
rs730880737
|
|
NM_000257.4(MYH7):c.3337-4dup
|
rs45504498
|
|
NM_000260.4(MYO7A):c.659A>G (p.His220Arg)
|
rs2135239065
|
|
NM_000261.2(MYOC):c.365G>A (p.Gly122Asp)
|
rs1395679980
|
|
NM_000263.4(NAGLU):c.1980C>A (p.Asn660Lys)
|
rs981984204
|
|
NM_000264.5(PTCH1):c.209C>T (p.Ala70Val)
|
rs764137082
|
|
NM_000268.4(NF2):c.115-8101del
|
rs5844863
|
|
NM_000271.5(NPC1):c.1947+2T>G
|
rs764472245
|
|
NM_000271.5(NPC1):c.1947+6_1947+7del
|
rs2058767020
|
|
NM_000275.3(OCA2):c.1631T>G (p.Ile544Ser)
|
rs34141095
|
|
NM_000297.4(PKD2):c.1094+1G>C
|
rs58606740
|
|
NM_000297.4(PKD2):c.1094+3_1094+6del
|
rs1553925470
|
|
NM_000297.4(PKD2):c.1176T>A (p.Tyr392Ter)
|
rs924484889
|
|
NM_000297.4(PKD2):c.1262C>A (p.Ala421Glu)
|
rs1727652224
|
|
NM_000297.4(PKD2):c.1322dup (p.Leu441fs)
|
rs1727782355
|
|
NM_000297.4(PKD2):c.1390C>T (p.Arg464Ter)
|
rs121918042
|
|
NM_000297.4(PKD2):c.1445del (p.Phe482fs)
|
rs1578135940
|
|
NM_000297.4(PKD2):c.152del (p.Gly51fs)
|
rs1726229033
|
|
NM_000297.4(PKD2):c.155T>C (p.Leu52Pro)
|
rs1726229362
|
|
NM_000297.4(PKD2):c.1609C>T (p.Gln537Ter)
|
rs1720124087
|
|
NM_000297.4(PKD2):c.1662G>A (p.Trp554Ter)
|
rs1720126853
|
|
NM_000297.4(PKD2):c.1663C>T (p.Gln555Ter)
|
rs1720127024
|
|
NM_000297.4(PKD2):c.1704dup (p.Val569fs)
|
rs1720128947
|
|
NM_000297.4(PKD2):c.1709G>T (p.Trp570Leu)
|
rs1720129428
|
|
NM_000297.4(PKD2):c.1716+2T>A
|
rs1720129561
|
|
NM_000297.4(PKD2):c.1774C>T (p.Arg592Ter)
|
rs1553926905
|
|
NM_000297.4(PKD2):c.1810TTC[1] (p.Phe605del)
|
rs1720323681
|
|
NM_000297.4(PKD2):c.1868_1872del (p.Val623fs)
|
rs1720325828
|
|
NM_000297.4(PKD2):c.1986del (p.Thr663fs)
|
rs1720430411
|
|
NM_000297.4(PKD2):c.1998_2001del (p.Phe666fs)
|
rs1720431219
|
|
NM_000297.4(PKD2):c.2020-1_2020del
|
rs1553927436
|
|
NM_000297.4(PKD2):c.2159dup (p.Asn720fs)
|
rs757757289
|
|
NM_000297.4(PKD2):c.2208_2213del (p.Leu736_Asn737del)
|
rs778896252
|
|
NM_000297.4(PKD2):c.2218G>T (p.Glu740Ter)
|
rs770308463
|
|
NM_000297.4(PKD2):c.2240+1G>C
|
rs1553927783
|
|
NM_000297.4(PKD2):c.2286C>G (p.Tyr762Ter)
|
rs555242193
|
|
NM_000297.4(PKD2):c.2318A>G (p.His773Arg)
|
rs748554287
|
|
NM_000297.4(PKD2):c.2407C>T (p.Arg803Ter)
|
rs778235410
|
|
NM_000297.4(PKD2):c.2525T>G (p.Leu842Arg)
|
rs1721170351
|
|
NM_000297.4(PKD2):c.2527del (p.Leu842_Val843insTer)
|
rs1560632930
|
|
NM_000297.4(PKD2):c.2614C>T (p.Arg872Ter)
|
rs755226061
|
|
NM_000297.4(PKD2):c.290AGG[7] (p.Glu102dup)
|
rs750077647
|
|
NM_000297.4(PKD2):c.423dup (p.Gly142fs)
|
rs1726246959
|
|
NM_000297.4(PKD2):c.488C>G (p.Pro163Arg)
|
rs1726250193
|
|
NM_000297.4(PKD2):c.567G>A (p.Trp189Ter)
|
rs1163840810
|
|
NM_000297.4(PKD2):c.586G>A (p.Gly196Arg)
|
rs756765752
|
|
NM_000297.4(PKD2):c.642_643dup (p.Lys215fs)
|
rs1726676402
|
|
NM_000297.4(PKD2):c.662del (p.Leu221fs)
|
rs1726677278
|
|
NM_000297.4(PKD2):c.670del (p.Leu224fs)
|
rs1553924173
|
|
NM_000297.4(PKD2):c.709+1G>A
|
rs398123308
|
|
NM_000297.4(PKD2):c.710-3C>G
|
rs1727324496
|
|
NM_000297.4(PKD2):c.741C>G (p.Tyr247Ter)
|
rs1578129049
|
|
NM_000297.4(PKD2):c.843+1G>A
|
rs1727333593
|
|
NM_000297.4(PKD2):c.844-2A>G
|
rs1727412388
|
|
NM_000297.4(PKD2):c.848_849dup (p.Glu284fs)
|
rs1727412539
|
|
NM_000297.4(PKD2):c.860_861insG (p.Leu288fs)
|
rs1727413597
|
|
NM_000297.4(PKD2):c.875A>C (p.Tyr292Ser)
|
rs1560608538
|
|
NM_000297.4(PKD2):c.916C>T (p.Arg306Ter)
|
rs200001068
|
|
NM_000297.4(PKD2):c.954T>C (p.Val318=)
|
rs1727418866
|
|
NM_000297.4(PKD2):c.958C>T (p.Arg320Ter)
|
rs749004212
|
|
NM_000301.5(PLG):c.185+14C>A
|
rs369616302
|
|
NM_000305.3(PON2):c.884C>T (p.Pro295Leu)
|
rs771860411
|
|
NM_000310.4(PPT1):c.726+3G>T
|
rs2124472206
|
|
NM_000313.4(PROS1):c.1501T>C (p.Ser501Pro)
|
rs121918472
|
|
NM_000314.8(PTEN):c.-6C>A
|
rs1554890322
|
|
NM_000314.8(PTEN):c.1083T>C (p.Ser361=)
|
rs2132289564
|
|
NM_000314.8(PTEN):c.209+4_209+7del
|
rs398123318
|
|
NM_000314.8(PTEN):c.209+5G>A
|
rs1114167650
|
|
NM_000314.8(PTEN):c.210-7_210-3del
|
rs587780544
|
|
NM_000314.8(PTEN):c.218A>G (p.Glu73Gly)
|
rs2132238743
|
|
NM_000314.8(PTEN):c.323T>C (p.Leu108Pro)
|
rs1064793243
|
|
NM_000314.8(PTEN):c.450G>A (p.Glu150=)
|
rs757777398
|
|
NM_000314.8(PTEN):c.492+1del
|
rs1564830522
|
|
NM_000314.8(PTEN):c.966A>G (p.Lys322=)
|
rs786201392
|
|
NM_000316.3(PTH1R):c.536G>T (p.Arg179Leu)
|
rs768504854
|
|
NM_000321.3(RB1):c.2239GAG[1] (p.Glu748del)
|
rs2138344648
|
|
NM_000321.3(RB1):c.45_53del (p.Ala16_Ala18del)
|
rs572454921
|
|
NM_000322.5(PRPH2):c.737G>C (p.Trp246Ser)
|
rs1582764697
|
|
NM_000324.3(RHAG):c.209C>T (p.Thr70Ile)
|
rs149343590
|
|
NM_000340.2(SLC2A2):c.593C>T (p.Thr198Met)
|
rs149460434
|
|
NM_000341.4(SLC3A1):c.163del (p.Gln55fs)
|
rs779932118
|
|
NM_000342.4(SLC4A1):c.286C>T (p.Arg96Cys)
|
rs538778224
|
|
NM_000345.4(SNCA):c.391G>C (p.Glu131Gln)
|
rs2110065132
|
|
NM_000359.3(TGM1):c.2047C>T (p.Gln683Ter)
|
rs2040730164
|
|
NM_000369.5(TSHR):c.1377G>A (p.Ala459=)
|
rs113951800
|
|
NM_000369.5(TSHR):c.1462T>C (p.Trp488Arg)
|
rs2140111252
|
|
NM_000369.5(TSHR):c.1906T>G (p.Cys636Gly)
|
rs1891823429
|
|
NM_000375.3(UROS):c.512T>C (p.Val171Ala)
|
rs17173752
|
|
NM_000383.4(AIRE):c.1144G>A (p.Gly382Arg)
|
rs2146383336
|
|
NM_000384.3(APOB):c.10913G>A (p.Arg3638Gln)
|
|
|
NM_000384.3(APOB):c.12247G>A (p.Asp4083Asn)
|
rs762211836
|
|
NM_000384.3(APOB):c.1784C>T (p.Ser595Phe)
|
rs1047759477
|
|
NM_000384.3(APOB):c.26TGGCGCTGC[1] (p.9LAL[1])
|
|
|
NM_000384.3(APOB):c.293C>T (p.Thr98Ile)
|
|
|
NM_000384.3(APOB):c.3733C>G (p.Leu1245Val)
|
rs2103362015
|
|
NM_000384.3(APOB):c.8794G>A (p.Ala2932Thr)
|
rs2103353864
|
|
NM_000393.5(COL5A2):c.4343A>G (p.Asp1448Gly)
|
rs1275257471
|
|
NM_000400.4(ERCC2):c.1918C>A (p.Leu640Met)
|
rs2123224569
|
|
NM_000404.4(GLB1):c.1589G>A (p.Arg530His)
|
rs534898382
|
|
NM_000404.4(GLB1):c.486G>A (p.Leu162=)
|
rs2125543638
|
|
NM_000407.5(GP1BB):c.544G>T (p.Ala182Ser)
|
rs542853528
|
|
NM_000408.5(GPD2):c.913G>A (p.Ala305Thr)
|
rs767842019
|
|
NM_000414.4(HSD17B4):c.172G>T (p.Val58Phe)
|
rs2126682652
|
|
NM_000420.3(KEL):c.977C>A (p.Pro326Gln)
|
rs751284993
|
|
NM_000421.5(KRT10):c.1654AGCTCCGGCGGCGGATACGGCGGCGGCAGC[3] (p.556GYGGGSSSGG[3])
|
rs776920005
|
|
NM_000426.4(LAMA2):c.3041G>T (p.Cys1014Phe)
|
rs2114460754
|
|
NM_000426.4(LAMA2):c.3897G>T (p.Leu1299Phe)
|
rs1774573110
|
|
NM_000426.4(LAMA2):c.4960-132A>G
|
rs2114653633
|
|
NM_000426.4(LAMA2):c.8708C>T (p.Thr2903Ile)
|
rs1786187608
|
|
NM_000426.4(LAMA2):c.8918C>T (p.Thr2973Met)
|
rs145842163
|
|
NM_000427.3(LORICRIN):c.619G>A (p.Gly207Ser)
|
rs769843541
|
|
NM_000427.3(LORICRIN):c.835GGC[6] (p.Gly283dup)
|
rs546948100
|
|
NM_000435.3(NOTCH3):c.3838C>A (p.Pro1280Thr)
|
rs958354298
|
|
NM_000455.5(STK11):c.-2_290+1013del
|
|
|
NM_000455.5(STK11):c.1041G>A (p.Ala347=)
|
rs537906142
|
|
NM_000455.5(STK11):c.1045GAGGAC[3] (p.349ED[3])
|
rs762810203
|
|
NM_000455.5(STK11):c.1284G>C (p.Ser428=)
|
rs369097329
|
|
NM_000455.5(STK11):c.163C>T (p.Leu55=)
|
rs1057520869
|
|
NM_000455.5(STK11):c.291-2_374+91del
|
rs2145420502
|
|
NM_000455.5(STK11):c.465-4G>A
|
rs587780009
|
|
NM_000455.5(STK11):c.504T>C (p.His168=)
|
rs754986576
|
|
NM_000455.5(STK11):c.537G>A (p.Pro179=)
|
rs528535500
|
|
NM_000455.5(STK11):c.580G>A (p.Asp194Asn)
|
rs121913315
|
|
NM_000455.5(STK11):c.734+14C>A
|
rs763346212
|
|
NM_000455.5(STK11):c.735-10C>T
|
rs553975112
|
|
NM_000455.5(STK11):c.837C>A (p.Gly279=)
|
rs373021819
|
|
NM_000455.5(STK11):c.910C>T (p.Arg304Trp)
|
rs786201090
|
|
NM_000455.5(STK11):c.96C>G (p.Thr32=)
|
rs79175212
|
|
NM_000465.4(BARD1):c.1060T>A (p.Ser354Thr)
|
rs863224670
|
|
NM_000465.4(BARD1):c.1075_1095del (p.Leu359_Pro365del)
|
rs28997575
|
|
NM_000465.4(BARD1):c.1098_1099delinsAC (p.Ser367Pro)
|
rs1064794052
|
|
NM_000465.4(BARD1):c.111T>A (p.Ser37Arg)
|
rs2106171106
|
|
NM_000465.4(BARD1):c.1309A>G (p.Ile437Val)
|
rs764592698
|
|
NM_000465.4(BARD1):c.130C>T (p.Leu44=)
|
rs876658807
|
|
NM_000465.4(BARD1):c.1438T>C (p.Leu480=)
|
rs786203220
|
|
NM_000465.4(BARD1):c.1569-1_1677+2del
|
rs2106038518
|
|
NM_000465.4(BARD1):c.1635A>G (p.Leu545=)
|
rs786203364
|
|
NM_000465.4(BARD1):c.175G>C (p.Glu59Gln)
|
rs1559441880
|
|
NM_000465.4(BARD1):c.176_177del (p.Glu59fs)
|
rs1057517589
|
|
NM_000465.4(BARD1):c.1904-12_1904-10delinsGGG
|
rs2105990964
|
|
NM_000465.4(BARD1):c.1904-502_*2del
|
|
|
NM_000465.4(BARD1):c.1966G>C (p.Gly656Arg)
|
rs766781362
|
|
NM_000465.4(BARD1):c.2001+3A>G
|
rs1553612461
|
|
NM_000465.4(BARD1):c.2091A>T (p.Ala697=)
|
rs786201573
|
|
NM_000465.4(BARD1):c.2148_2149del (p.Ile717fs)
|
rs786203811
|
|
NM_000465.4(BARD1):c.216-14del
|
rs56130510
|
|
NM_000465.4(BARD1):c.2191C>G (p.Arg731Gly)
|
rs76744638
|
|
NM_000465.4(BARD1):c.3G>A (p.Met1Ile)
|
rs587780031
|
|
NM_000465.4(BARD1):c.643A>T (p.Asn215Tyr)
|
rs864622353
|
|
NM_000465.4(BARD1):c.7G>A (p.Asp3Asn)
|
rs1060501282
|
|
NM_000465.4(BARD1):c.833T>G (p.Val278Gly)
|
rs1440649518
|
|
NM_000465.4(BARD1):c.888A>C (p.Glu296Asp)
|
rs2106109942
|
|
NM_000465.4(BARD1):c.895A>G (p.Thr299Ala)
|
rs1694983227
|
|
NM_000489.6(ATRX):c.4365GGA[4] (p.Glu1464del)
|
rs398123423
|
|
NM_000489.6(ATRX):c.5801G>A (p.Gly1934Glu)
|
rs2148145226
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000492.4(CFTR):c.1265C>T (p.Ser422Phe)
|
rs201880593
|
|
NM_000492.4(CFTR):c.1392G>T (p.Lys464Asn)
|
rs397508198
|
|
NM_000492.4(CFTR):c.350G>A (p.Arg117His)
|
rs78655421
|
|
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr)
|
rs202242769
|
|
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu)
|
rs6471
|
|
NM_000511.6(FUT2):c.923A>G (p.Asn308Ser)
|
rs1406380167
|
|
NM_000521.4(HEXB):c.115del (p.Val39fs)
|
rs398123443
|
|
NM_000522.5(HOXA13):c.126_152del (p.Ala43_Ala51del)
|
rs777882526
|
|
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
|
|
|
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
|
|
|
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile)
|
rs137853964
|
|
NM_000535.7(PMS2):c.106A>G (p.Ser36Gly)
|
rs587781918
|
|
NM_000535.7(PMS2):c.1119_1122del (p.Gln374fs)
|
rs757679199
|
|
NM_000535.7(PMS2):c.1144+1del
|
rs2128746842
|
|
NM_000535.7(PMS2):c.1145-1_2006+2del
|
rs2128719778
|
|
NM_000535.7(PMS2):c.1145-982_2006+2del
|
|
|
NM_000535.7(PMS2):c.1181del (p.Lys394fs)
|
rs1554298067
|
|
NM_000535.7(PMS2):c.1185C>T (p.Pro395=)
|
rs1562636721
|
|
NM_000535.7(PMS2):c.1188G>A (p.Met396Ile)
|
rs1170825702
|
|
NM_000535.7(PMS2):c.1201G>A (p.Asp401Asn)
|
rs1284362486
|
|
NM_000535.7(PMS2):c.1238_1239delinsGG (p.Lys413Arg)
|
rs587780041
|
|
NM_000535.7(PMS2):c.134A>C (p.Asn45Thr)
|
rs1554306353
|
|
NM_000535.7(PMS2):c.1356T>G (p.Gly452=)
|
rs786202946
|
|
NM_000535.7(PMS2):c.137G>A (p.Ser46Asn)
|
rs121434629
|
|
NM_000535.7(PMS2):c.1437C>G (p.His479Gln)
|
rs63750685
|
|
NM_000535.7(PMS2):c.1482G>A (p.Ser494=)
|
rs864622398
|
|
NM_000535.7(PMS2):c.164-4C>A
|
rs876658444
|
|
NM_000535.7(PMS2):c.1682A>G (p.Lys561Arg)
|
rs876658481
|
|
NM_000535.7(PMS2):c.1687C>T (p.Arg563Ter)
|
rs587778618
|
|
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu)
|
rs63750668
|
|
NM_000535.7(PMS2):c.1731_1732delinsAGT (p.Arg578fs)
|
rs1057515572
|
|
NM_000535.7(PMS2):c.1732C>T (p.Arg578Cys)
|
rs63750534
|
|
NM_000535.7(PMS2):c.1771T>C (p.Cys591Arg)
|
rs764252217
|
|
NM_000535.7(PMS2):c.1785A>G (p.Val595=)
|
rs2128723511
|
|
NM_000535.7(PMS2):c.1789A>G (p.Thr597Ala)
|
rs1805318
|
|
NM_000535.7(PMS2):c.1795G>A (p.Asp599Asn)
|
rs1380574195
|
|
NM_000535.7(PMS2):c.1826T>C (p.Val609Ala)
|
rs1583315021
|
|
NM_000535.7(PMS2):c.1831dup (p.Ile611fs)
|
rs63750250
|
|
NM_000535.7(PMS2):c.1840A>T (p.Lys614Ter)
|
rs63750490
|
|
NM_000535.7(PMS2):c.1A>T (p.Met1Leu)
|
rs587779333
|
|
NM_000535.7(PMS2):c.2006+3A>G
|
rs1064793866
|
|
NM_000535.7(PMS2):c.2090T>C (p.Ile697Thr)
|
rs1583299036
|
|
NM_000535.7(PMS2):c.20C>T (p.Ser7Leu)
|
rs587780048
|
|
NM_000535.7(PMS2):c.2115G>C (p.Glu705Asp)
|
rs1562615196
|
|
NM_000535.7(PMS2):c.2117del (p.Lys706fs)
|
rs587782704
|
|
NM_000535.7(PMS2):c.2156del (p.Gln719fs)
|
rs786201062
|
|
NM_000535.7(PMS2):c.2160G>A (p.Gly720=)
|
rs546441038
|
|
NM_000535.7(PMS2):c.2175-1335_2445+4del
|
|
|
NM_000535.7(PMS2):c.2184del (p.Leu729fs)
|
rs1554294505
|
|
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs)
|
rs587779335
|
|
NM_000535.7(PMS2):c.21G>C (p.Ser7=)
|
rs587780726
|
|
NM_000535.7(PMS2):c.2276-1_2445+2del
|
rs2128671526
|
|
NM_000535.7(PMS2):c.23+16A>G
|
rs1554308921
|
|
NM_000535.7(PMS2):c.23+21_23+28del
|
rs1554308880
|
|
NM_000535.7(PMS2):c.23+7G>T
|
rs878854047
|
|
NM_000535.7(PMS2):c.2410A>T (p.Lys804Ter)
|
rs2128672286
|
|
NM_000535.7(PMS2):c.2438G>A (p.Arg813Gln)
|
rs587782665
|
|
NM_000535.7(PMS2):c.2445+1601_*3del
|
|
|
NM_000535.7(PMS2):c.2445+1763_*2del
|
|
|
NM_000535.7(PMS2):c.2445+1G>A
|
rs876661113
|
|
NM_000535.7(PMS2):c.2445+1G>C
|
rs876661113
|
|
NM_000535.7(PMS2):c.2445+1G>T
|
rs876661113
|
|
NM_000535.7(PMS2):c.2446-170_*3del
|
rs2128656455
|
|
NM_000535.7(PMS2):c.2446-440_*2del
|
rs2128656484
|
|
NM_000535.7(PMS2):c.2446_2589del (p.Val816_Ter863del)
|
rs1554292684
|
|
NM_000535.7(PMS2):c.2458dup (p.Thr820fs)
|
rs1554292880
|
|
NM_000535.7(PMS2):c.2467_2468delinsG (p.Asn823fs)
|
rs2128658902
|
|
NM_000535.7(PMS2):c.2492_2493del (p.Ile831fs)
|
rs2128658402
|
|
NM_000535.7(PMS2):c.2500A>T (p.Met834Leu)
|
rs1554292828
|
|
NM_000535.7(PMS2):c.2500_2501delinsG (p.Met834fs)
|
rs587781626
|
|
NM_000535.7(PMS2):c.2506del (p.Glu836fs)
|
rs2128658092
|
|
NM_000535.7(PMS2):c.251-11C>G
|
rs761795058
|
|
NM_000535.7(PMS2):c.251-6_251-3del
|
rs2128827769
|
|
NM_000535.7(PMS2):c.2537G>C (p.Gly846Ala)
|
rs2128657397
|
|
NM_000535.7(PMS2):c.2559C>T (p.Ile853=)
|
rs371673459
|
|
NM_000535.7(PMS2):c.299A>G (p.Gln100Arg)
|
rs747771951
|
|
NM_000535.7(PMS2):c.321G>A (p.Arg107=)
|
rs756420858
|
|
NM_000535.7(PMS2):c.353G>A (p.Ser118Asn)
|
rs1394474494
|
|
NM_000535.7(PMS2):c.354-2A>G
|
rs786202098
|
|
NM_000535.7(PMS2):c.368del (p.Ser123fs)
|
rs2128819251
|
|
NM_000535.7(PMS2):c.396A>G (p.Gly132=)
|
rs786201073
|
|
NM_000535.7(PMS2):c.538-41_538-40insATTCCTATAATA
|
rs2128802890
|
|
NM_000535.7(PMS2):c.5A>G (p.Glu2Gly)
|
rs876658233
|
|
NM_000535.7(PMS2):c.655G>T (p.Gly219Ter)
|
rs1064796190
|
|
NM_000535.7(PMS2):c.706-4del
|
rs60794673
|
|
NM_000535.7(PMS2):c.706-5_706-4del
|
rs60794673
|
|
NM_000535.7(PMS2):c.706-6_706-4del
|
rs60794673
|
|
NM_000535.7(PMS2):c.706-7_706-4del
|
rs60794673
|
|
NM_000535.7(PMS2):c.710A>T (p.Gln237Leu)
|
rs587780061
|
|
NM_000535.7(PMS2):c.736C>A (p.Pro246Thr)
|
rs765668173
|
|
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer)
|
rs267608150
|
|
NM_000535.7(PMS2):c.746_753del (p.Asp249fs)
|
rs587782710
|
|
NM_000535.7(PMS2):c.7C>A (p.Arg3=)
|
rs763939668
|
|
NM_000535.7(PMS2):c.804-267_903+2del
|
rs2128774241
|
|
NM_000535.7(PMS2):c.860dup (p.Gln288fs)
|
rs2128775362
|
|
NM_000535.7(PMS2):c.903+1G>A
|
rs1554300689
|
|
NM_000535.7(PMS2):c.904-199_988+2del
|
rs2128754923
|
|
NM_000535.7(PMS2):c.933C>G (p.His311Gln)
|
rs1057521069
|
|
NM_000535.7(PMS2):c.935T>C (p.Met312Thr)
|
rs530021751
|
|
NM_000535.7(PMS2):c.94G>T (p.Val32Leu)
|
rs977251189
|
|
NM_000535.7(PMS2):c.979G>A (p.Val327Ile)
|
rs1257825900
|
|
NM_000535.7(PMS2):c.989-1_1144+2del
|
rs2128746824
|
|
NM_000535.7(PMS2):c.989-85_1144+3del
|
rs2128746806
|
|
NM_000536.4(RAG2):c.814G>A (p.Val272Ile)
|
rs117899975
|
|
NM_000537.4(REN):c.1220G>T (p.Ter407Leu)
|
rs200760827
|
|
NM_000540.3(RYR1):c.10188C>T (p.Asp3396=)
|
rs2229145
|
|
NM_000543.5(SMPD1):c.872G>A (p.Arg291His)
|
rs1803161
|
|
NM_000545.8(HNF1A):c.-167TGGGGGT[3]
|
rs538476099
|
|
NM_000545.8(HNF1A):c.869C>A (p.Pro290His)
|
rs778231679
|
|
NM_000546.6(TP53):c.1093C>T (p.His365Tyr)
|
rs267605075
|
|
NM_000546.6(TP53):c.168A>G (p.Glu56=)
|
rs574255227
|
|
NM_000546.6(TP53):c.176G>A (p.Gly59Asp)
|
rs1597374828
|
|
NM_000546.6(TP53):c.427G>A (p.Val143Met)
|
rs587782620
|
|
NM_000546.6(TP53):c.527G>A (p.Cys176Tyr)
|
rs786202962
|
|
NM_000546.6(TP53):c.558T>C (p.Asp186=)
|
rs375275361
|
|
NM_000546.6(TP53):c.574C>T (p.Gln192Ter)
|
rs866380588
|
|
NM_000546.6(TP53):c.605G>A (p.Arg202His)
|
rs587778719
|
|
NM_000546.6(TP53):c.63C>T (p.Asp21=)
|
rs1800369
|
|
NM_000546.6(TP53):c.652G>A (p.Val218Met)
|
rs878854072
|
|
NM_000546.6(TP53):c.672+15T>G
|
rs140756213
|
|
NM_000546.6(TP53):c.715A>G (p.Asn239Asp)
|
rs876660807
|
|
NM_000546.6(TP53):c.731del (p.Gly244fs)
|
rs2151021047
|
|
NM_000546.6(TP53):c.782+14T>G
|
rs1437756379
|
|
NM_000546.6(TP53):c.818G>A (p.Arg273His)
|
rs28934576
|
|
NM_000546.6(TP53):c.830G>A (p.Cys277Tyr)
|
rs763098116
|
|
NM_000546.6(TP53):c.845G>A (p.Arg282Gln)
|
rs730882008
|
|
NM_000546.6(TP53):c.892G>A (p.Glu298Lys)
|
rs201744589
|
|
NM_000548.5(TSC2):c.*272CA[6]
|
rs56279647
|
|
NM_000548.5(TSC2):c.5367G>C (p.Glu1789Asp)
|
rs966695764
|
|
NM_000548.5(TSC2):c.925C>T (p.Leu309Phe)
|
rs1258567486
|
|
NM_000551.4(VHL):c.293A>G (p.Tyr98Cys)
|
rs864321643
|
|
NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln)
|
rs61749370
|
|
NM_000552.5(VWF):c.6025C>T (p.His2009Tyr)
|
rs761740133
|
|
NM_000552.5(VWF):c.8069_8070insA (p.Thr2691fs)
|
rs2136339259
|
|
NM_000553.6(WRN):c.1518AGA[3] (p.Glu509_Glu510del)
|
rs781777438
|
|
NM_000553.6(WRN):c.2968-1G>A
|
rs1300106191
|
|
NM_000553.6(WRN):c.3629C>T (p.Ala1210Val)
|
rs2130454289
|
|
NM_000558.5(HBA1):c.95+2_95+6del
|
rs1181505507
|
|
NM_000578.4(SLC11A1):c.943A>C (p.Asn315His)
|
rs2106334814
|
|
NM_000603.5(NOS3):c.2554C>T (p.Pro852Ser)
|
rs1795272583
|
|
NM_000603.5(NOS3):c.608C>A (p.Ser203Tyr)
|
rs763096145
|
|
NM_000634.3(CXCR1):c.679C>A (p.Arg227Ser)
|
rs762358420
|
|
NM_000642.3(AGL):c.803A>G (p.Glu268Gly)
|
rs376231430
|
|
NM_000665.5(ACHE):c.1033G>A (p.Ala345Thr)
|
rs2116000213
|
|
NM_000690.4(ALDH2):c.350C>T (p.Thr117Ile)
|
rs2068287072
|
|
NM_000693.4(ALDH1A3):c.845G>T (p.Gly282Val)
|
rs547918064
|
|
NM_000718.4(CACNA1B):c.390+1_390+2insACGACACGGAGCCCTATTTCATCGGGATCTTTTGCTTCGAGGCAGGGATCAAAATCA
|
rs370237172
|
|
NM_000744.7(CHRNA4):c.116G>A (p.Arg39Gln)
|
rs1412355004
|
|
NM_000751.3(CHRND):c.8G>C (p.Gly3Ala)
|
rs2106205606
|
|
NM_000770.3(CYP2C8):c.394C>T (p.Arg132Trp)
|
rs145992929
|
|
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly)
|
rs72551322
|
|
NM_000791.4(DHFR):c.-418GGCCGCTGC[1]
|
rs758960105
|
|
NM_000890.5(KCNJ5):c.1248G>C (p.Arg416Ser)
|
rs930047035
|
|
NM_000921.5(PDE3A):c.1450A>T (p.Met484Leu)
|
rs552128450
|
|
NM_001001557.4(GDF6):c.1244C>T (p.Thr415Ile)
|
rs1269055850
|
|
NM_001004334.4(GPR179):c.1024C>A (p.Gln342Lys)
|
rs2144273215
|
|
NM_001004434.3(SLC30A2):c.1106G>A (p.Gly369Asp)
|
rs2124419907
|
|
NM_001005242.3(PKP2):c.964G>A (p.Gly322Ser)
|
rs200069860
|
|
NM_001005361.3(DNM2):c.1782-7C>A
|
rs200843089
|
|
NM_001005498.4(RHBDF2):c.928T>C (p.Tyr310His)
|
rs2144114249
|
|
NM_001007026.1(ATN1):c.1462CAG[17] (p.Gln488[17])
|
rs60216939
|
|
NM_001009944.2(PKD1):c.8017-?_8161+?dup
|
|
|
NM_001009944.3(PKD1):c.-109C>G
|
rs1034012323
|
|
NM_001009944.3(PKD1):c.-52C>T
|
rs1051951834
|
|
NM_001009944.3(PKD1):c.10031del (p.Phe3344fs)
|
rs2092006545
|
|
NM_001009944.3(PKD1):c.10051-10C>A
|
rs3874642
|
|
NM_001009944.3(PKD1):c.10084C>T (p.Gln3362Ter)
|
rs1567166045
|
|
NM_001009944.3(PKD1):c.10349A>G (p.Glu3450Gly)
|
rs1321795630
|
|
NM_001009944.3(PKD1):c.10481C>G (p.Thr3494Arg)
|
rs752503970
|
|
NM_001009944.3(PKD1):c.10619-12_10619-11del
|
rs1287879038
|
|
NM_001009944.3(PKD1):c.10619-13del
|
rs562614426
|
|
NM_001009944.3(PKD1):c.10657T>G (p.Trp3553Gly)
|
rs1349398113
|
|
NM_001009944.3(PKD1):c.10698GGCTGT[2] (p.3567AV[2])
|
rs777460677
|
|
NM_001009944.3(PKD1):c.10725G>A (p.Trp3575Ter)
|
rs1177764199
|
|
NM_001009944.3(PKD1):c.10733del (p.Ala3578fs)
|
rs2091725538
|
|
NM_001009944.3(PKD1):c.10764G>T (p.Trp3588Cys)
|
rs2151708577
|
|
NM_001009944.3(PKD1):c.10822-8del
|
rs373684171
|
|
NM_001009944.3(PKD1):c.108del (p.Cys37fs)
|
rs2092941062
|
|
NM_001009944.3(PKD1):c.10966C>T (p.Leu3656=)
|
rs898443059
|
|
NM_001009944.3(PKD1):c.11017-10C>A
|
rs555703777
|
|
NM_001009944.3(PKD1):c.11156+12_11156+13delinsAA
|
rs2091665982
|
|
NM_001009944.3(PKD1):c.11157-1G>A
|
rs2091646317
|
|
NM_001009944.3(PKD1):c.11178G>A (p.Trp3726Ter)
|
rs2091645594
|
|
NM_001009944.3(PKD1):c.111C>A (p.Cys37Ter)
|
rs2092941027
|
|
NM_001009944.3(PKD1):c.11242C>T (p.Arg3748Trp)
|
rs2091642915
|
|
NM_001009944.3(PKD1):c.11249G>A (p.Arg3750Gln)
|
rs1327414405
|
|
NM_001009944.3(PKD1):c.11257C>T (p.Arg3753Trp)
|
rs1167476946
|
|
NM_001009944.3(PKD1):c.112C>G (p.Leu38Val)
|
rs1030433875
|
|
NM_001009944.3(PKD1):c.11313_11314insCCCG (p.Ala3772fs)
|
rs2091620545
|
|
NM_001009944.3(PKD1):c.11388del (p.Tyr3797fs)
|
rs2091615030
|
|
NM_001009944.3(PKD1):c.11410G>A (p.Gly3804Arg)
|
rs2091612949
|
|
NM_001009944.3(PKD1):c.11412-7C>G
|
rs553377243
|
|
NM_001009944.3(PKD1):c.1141G>A (p.Gly381Ser)
|
rs1303102528
|
|
NM_001009944.3(PKD1):c.11461C>T (p.Gln3821Ter)
|
rs1325300747
|
|
NM_001009944.3(PKD1):c.11538-10C>A
|
rs377419559
|
|
NM_001009944.3(PKD1):c.1154T>C (p.Leu385Pro)
|
rs2092665731
|
|
NM_001009944.3(PKD1):c.11552del (p.Phe3851fs)
|
rs2091580617
|
|
NM_001009944.3(PKD1):c.11712+2T>C
|
rs2091571271
|
|
NM_001009944.3(PKD1):c.11766G>A (p.Trp3922Ter)
|
rs2091498706
|
|
NM_001009944.3(PKD1):c.11768A>C (p.His3923Pro)
|
rs1472012498
|
|
NM_001009944.3(PKD1):c.11784G>A (p.Trp3928Ter)
|
rs759035704
|
|
NM_001009944.3(PKD1):c.11798_11810del (p.Leu3933fs)
|
rs1555445192
|
|
NM_001009944.3(PKD1):c.11831T>C (p.Leu3944Pro)
|
rs2091494966
|
|
NM_001009944.3(PKD1):c.11853dup (p.Arg3952fs)
|
rs2091493781
|
|
NM_001009944.3(PKD1):c.11884C>T (p.Gln3962Ter)
|
rs1596476503
|
|
NM_001009944.3(PKD1):c.11889G>A (p.Trp3963Ter)
|
rs2091491322
|
|
NM_001009944.3(PKD1):c.11916C>G (p.Arg3972=)
|
rs77634115
|
|
NM_001009944.3(PKD1):c.11916C>T (p.Arg3972=)
|
rs77634115
|
|
NM_001009944.3(PKD1):c.12007del (p.Ala4003fs)
|
rs2091475296
|
|
NM_001009944.3(PKD1):c.1201+1G>A
|
rs1596588978
|
|
NM_001009944.3(PKD1):c.12010C>T (p.Gln4004Ter)
|
rs766551411
|
|
NM_001009944.3(PKD1):c.1202-2A>T
|
rs2092662592
|
|
NM_001009944.3(PKD1):c.12031C>T (p.Gln4011Ter)
|
rs1555444985
|
|
NM_001009944.3(PKD1):c.12048C>T (p.Gly4016=)
|
rs756122519
|
|
NM_001009944.3(PKD1):c.12061C>T (p.Arg4021Ter)
|
rs764431330
|
|
NM_001009944.3(PKD1):c.12062G>A (p.Arg4021Gln)
|
rs1487111123
|
|
NM_001009944.3(PKD1):c.12078C>T (p.Leu4026=)
|
rs562488184
|
|
NM_001009944.3(PKD1):c.1211C>G (p.Pro404Arg)
|
rs767579073
|
|
NM_001009944.3(PKD1):c.12132C>T (p.Ala4044=)
|
rs1804177
|
|
NM_001009944.3(PKD1):c.12138+22del
|
rs199701927
|
|
NM_001009944.3(PKD1):c.12165C>T (p.Leu4055=)
|
rs375183934
|
|
NM_001009944.3(PKD1):c.12178C>T (p.Gln4060Ter)
|
rs2091450305
|
|
NM_001009944.3(PKD1):c.12373C>T (p.Gln4125Ter)
|
rs2091437893
|
|
NM_001009944.3(PKD1):c.12382G>A (p.Glu4128Lys)
|
rs1596473289
|
|
NM_001009944.3(PKD1):c.12391_12393del (p.Glu4131del)
|
rs1555444468
|
|
NM_001009944.3(PKD1):c.12444+1G>A
|
rs2091431794
|
|
NM_001009944.3(PKD1):c.12445-2A>C
|
rs1555444334
|
|
NM_001009944.3(PKD1):c.12448C>T (p.Arg4150Cys)
|
rs1282668884
|
|
NM_001009944.3(PKD1):c.12514del (p.Ser4172fs)
|
rs1555444225
|
|
NM_001009944.3(PKD1):c.12630T>C (p.Pro4210=)
|
rs7203729
|
|
NM_001009944.3(PKD1):c.12658G>T (p.Glu4220Ter)
|
rs2091397048
|
|
NM_001009944.3(PKD1):c.12712C>T (p.Gln4238Ter)
|
rs1045675831
|
|
NM_001009944.3(PKD1):c.12721C>T (p.Gln4241Ter)
|
rs2091391674
|
|
NM_001009944.3(PKD1):c.12781G>A (p.Gly4261Ser)
|
rs2091385750
|
|
NM_001009944.3(PKD1):c.12819C>T (p.Arg4273=)
|
rs2091381361
|
|
NM_001009944.3(PKD1):c.12824C>T (p.Ala4275Val)
|
rs1211572683
|
|
NM_001009944.3(PKD1):c.12843G>A (p.Val4281=)
|
rs2091378699
|
|
NM_001009944.3(PKD1):c.1294G>A (p.Ala432Thr)
|
rs2092660647
|
|
NM_001009944.3(PKD1):c.1379T>G (p.Val460Gly)
|
rs2092659177
|
|
NM_001009944.3(PKD1):c.1385+12del
|
rs1357257296
|
|
NM_001009944.3(PKD1):c.1385+13del
|
rs2092658494
|
|
NM_001009944.3(PKD1):c.1391del (p.Leu464fs)
|
rs2092649198
|
|
NM_001009944.3(PKD1):c.1396G>A (p.Val466Met)
|
rs2855341
|
|
NM_001009944.3(PKD1):c.1583A>G (p.Tyr528Cys)
|
rs750798165
|
|
NM_001009944.3(PKD1):c.1606G>A (p.Gly536Ser)
|
rs1555458683
|
|
NM_001009944.3(PKD1):c.165_171del (p.Leu56fs)
|
rs1555462438
|
|
NM_001009944.3(PKD1):c.1810C>T (p.Gln604Ter)
|
rs2092629130
|
|
NM_001009944.3(PKD1):c.1817G>C (p.Arg606Pro)
|
rs2092629034
|
|
NM_001009944.3(PKD1):c.1831C>T (p.Arg611Trp)
|
rs1555458413
|
|
NM_001009944.3(PKD1):c.1849+1G>T
|
rs2092628618
|
|
NM_001009944.3(PKD1):c.206C>T (p.Ala69Val)
|
rs2151858171
|
|
NM_001009944.3(PKD1):c.2076G>A (p.Ala692=)
|
rs1317987043
|
|
NM_001009944.3(PKD1):c.2113C>T (p.Gln705Ter)
|
rs2092604224
|
|
NM_001009944.3(PKD1):c.2136T>C (p.Gly712=)
|
rs565591302
|
|
NM_001009944.3(PKD1):c.215+4_215+5insACAG
|
rs1555462432
|
|
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)
|
rs1616940
|
|
NM_001009944.3(PKD1):c.2215C>T (p.Arg739Trp)
|
rs747483368
|
|
NM_001009944.3(PKD1):c.2250G>A (p.Trp750Ter)
|
rs2092601367
|
|
NM_001009944.3(PKD1):c.2306T>G (p.Leu769Arg)
|
rs2092600592
|
|
NM_001009944.3(PKD1):c.2438G>T (p.Cys813Phe)
|
rs2092598008
|
|
NM_001009944.3(PKD1):c.2452G>C (p.Val818Leu)
|
rs2092597752
|
|
NM_001009944.3(PKD1):c.2457C>T (p.Ser819=)
|
rs1454717343
|
|
NM_001009944.3(PKD1):c.2498A>G (p.Asp833Gly)
|
rs1354266181
|
|
NM_001009944.3(PKD1):c.2528C>G (p.Ser843Ter)
|
rs2092596212
|
|
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser)
|
rs199476100
|
|
NM_001009944.3(PKD1):c.2605del (p.Arg869fs)
|
rs2092594790
|
|
NM_001009944.3(PKD1):c.2660G>A (p.Trp887Ter)
|
rs769587438
|
|
NM_001009944.3(PKD1):c.2759C>G (p.Ala920Gly)
|
rs1555457748
|
|
NM_001009944.3(PKD1):c.2777_2789del (p.Val926fs)
|
rs2092590647
|
|
NM_001009944.3(PKD1):c.2879G>A (p.Gly960Asp)
|
rs1567208088
|
|
NM_001009944.3(PKD1):c.288-11G>C
|
rs750270591
|
|
NM_001009944.3(PKD1):c.288-6_288-5del
|
rs2092684439
|
|
NM_001009944.3(PKD1):c.290del (p.Asp97fs)
|
rs2092684328
|
|
NM_001009944.3(PKD1):c.2914A>T (p.Lys972Ter)
|
rs2092566273
|
|
NM_001009944.3(PKD1):c.2932C>T (p.Gln978Ter)
|
rs1555457446
|
|
NM_001009944.3(PKD1):c.2967G>A (p.Ala989=)
|
rs1324429294
|
|
NM_001009944.3(PKD1):c.2986-12del
|
rs2092557921
|
|
NM_001009944.3(PKD1):c.2986-15C>T
|
rs2855349
|
|
NM_001009944.3(PKD1):c.2992G>C (p.Ala998Pro)
|
rs2092557509
|
|
NM_001009944.3(PKD1):c.301A>G (p.Asn101Asp)
|
rs2092684149
|
|
NM_001009944.3(PKD1):c.304A>T (p.Lys102Ter)
|
rs2092684104
|
|
NM_001009944.3(PKD1):c.3101A>G (p.Asn1034Ser)
|
rs28681051
|
|
NM_001009944.3(PKD1):c.3202C>T (p.Gln1068Ter)
|
rs2092538738
|
|
NM_001009944.3(PKD1):c.3212A>C (p.Tyr1071Ser)
|
rs2092538545
|
|
NM_001009944.3(PKD1):c.3275_3276delinsCC (p.Met1092Thr)
|
rs2151804169
|
|
NM_001009944.3(PKD1):c.3295+2T>G
|
rs2092536098
|
|
NM_001009944.3(PKD1):c.3346C>T (p.Gln1116Ter)
|
rs1596563657
|
|
NM_001009944.3(PKD1):c.3437_3439del (p.Phe1146del)
|
rs1320867301
|
|
NM_001009944.3(PKD1):c.3486_3489delinsGTTT (p.Asp1162Glu)
|
rs2092509681
|
|
NM_001009944.3(PKD1):c.348_352del (p.Asn116fs)
|
rs2092683596
|
|
NM_001009944.3(PKD1):c.3502C>T (p.Pro1168Ser)
|
rs146887330
|
|
NM_001009944.3(PKD1):c.3572_3573insA (p.Glu1192fs)
|
rs2092507274
|
|
NM_001009944.3(PKD1):c.359+2T>G
|
rs2092683440
|
|
NM_001009944.3(PKD1):c.3601del (p.Ala1201fs)
|
rs2092506499
|
|
NM_001009944.3(PKD1):c.3636C>T (p.Leu1212=)
|
rs753613908
|
|
NM_001009944.3(PKD1):c.3716ACA[1] (p.Asn1240del)
|
rs1567202750
|
|
NM_001009944.3(PKD1):c.3728G>A (p.Trp1243Ter)
|
rs2092501974
|
|
NM_001009944.3(PKD1):c.3785A>G (p.His1262Arg)
|
rs1057518976
|
|
NM_001009944.3(PKD1):c.4039C>G (p.His1347Asp)
|
rs774648280
|
|
NM_001009944.3(PKD1):c.4041_4042del (p.His1347fs)
|
rs2092491511
|
|
NM_001009944.3(PKD1):c.4082T>C (p.Leu1361Pro)
|
rs2092490160
|
|
NM_001009944.3(PKD1):c.4136A>T (p.Glu1379Val)
|
rs149210297
|
|
NM_001009944.3(PKD1):c.4168C>T (p.Gln1390Ter)
|
rs2092487764
|
|
NM_001009944.3(PKD1):c.4197G>A (p.Trp1399Ter)
|
rs890465248
|
|
NM_001009944.3(PKD1):c.4276_4277delinsA (p.Ala1426fs)
|
rs2092484442
|
|
NM_001009944.3(PKD1):c.4306C>T (p.Arg1436Ter)
|
rs1567200516
|
|
NM_001009944.3(PKD1):c.4328T>G (p.Val1443Gly)
|
rs2092482898
|
|
NM_001009944.3(PKD1):c.4346ACA[1] (p.Asn1450del)
|
rs2092482302
|
|
NM_001009944.3(PKD1):c.4452G>A (p.Pro1484=)
|
rs201988915
|
|
NM_001009944.3(PKD1):c.4461del (p.Ser1488fs)
|
rs1555455998
|
|
NM_001009944.3(PKD1):c.4524C>T (p.Leu1508=)
|
rs144200494
|
|
NM_001009944.3(PKD1):c.4684C>T (p.Leu1562=)
|
rs114489044
|
|
NM_001009944.3(PKD1):c.4824T>C (p.Asn1608=)
|
rs569136450
|
|
NM_001009944.3(PKD1):c.4825ATC[1] (p.Ile1610del)
|
rs1567198691
|
|
NM_001009944.3(PKD1):c.4906C>T (p.Gln1636Ter)
|
rs1596557266
|
|
NM_001009944.3(PKD1):c.4963G>A (p.Val1655Met)
|
rs149671582
|
|
NM_001009944.3(PKD1):c.4982A>T (p.Asn1661Ile)
|
rs1440789964
|
|
NM_001009944.3(PKD1):c.5028G>A (p.Leu1676=)
|
rs2092461515
|
|
NM_001009944.3(PKD1):c.5037C>T (p.Ser1679=)
|
rs144091742
|
|
NM_001009944.3(PKD1):c.5047_5051del (p.Phe1683fs)
|
rs2092460746
|
|
NM_001009944.3(PKD1):c.5086C>T (p.Gln1696Ter)
|
rs1057518783
|
|
NM_001009944.3(PKD1):c.5221G>T (p.Glu1741Ter)
|
rs2092456617
|
|
NM_001009944.3(PKD1):c.5223G>A (p.Glu1741=)
|
rs779556506
|
|
NM_001009944.3(PKD1):c.5270G>A (p.Gly1757Glu)
|
rs770462764
|
|
NM_001009944.3(PKD1):c.5294C>T (p.Pro1765Leu)
|
rs577487876
|
|
NM_001009944.3(PKD1):c.5301del (p.Thr1768fs)
|
rs2092454886
|
|
NM_001009944.3(PKD1):c.5510G>A (p.Trp1837Ter)
|
rs2092450284
|
|
NM_001009944.3(PKD1):c.5753C>T (p.Thr1918Ile)
|
rs878915702
|
|
NM_001009944.3(PKD1):c.5776del (p.Ala1926fs)
|
rs2092444151
|
|
NM_001009944.3(PKD1):c.5803del (p.Arg1935fs)
|
rs2092443264
|
|
NM_001009944.3(PKD1):c.5886_5893del (p.Gln1962fs)
|
rs2092440281
|
|
NM_001009944.3(PKD1):c.5921T>G (p.Leu1974Arg)
|
rs2092439627
|
|
NM_001009944.3(PKD1):c.5923C>T (p.Gln1975Ter)
|
rs2092439541
|
|
NM_001009944.3(PKD1):c.5976_5978del (p.Phe1992_Thr1993delinsLeu)
|
rs2092438025
|
|
NM_001009944.3(PKD1):c.6021C>A (p.Tyr2007Ter)
|
rs147391291
|
|
NM_001009944.3(PKD1):c.603C>G (p.His201Gln)
|
rs13334842
|
|
NM_001009944.3(PKD1):c.603C>T (p.His201=)
|
rs13334842
|
|
NM_001009944.3(PKD1):c.6062T>C (p.Leu2021Pro)
|
rs2092435927
|
|
NM_001009944.3(PKD1):c.6147_6148del (p.Asn2050fs)
|
rs2092433535
|
|
NM_001009944.3(PKD1):c.6179C>G (p.Ala2060Gly)
|
rs753999046
|
|
NM_001009944.3(PKD1):c.6197_6209del (p.Leu2066fs)
|
rs2092431000
|
|
NM_001009944.3(PKD1):c.6199C>T (p.Gln2067Ter)
|
rs1555454604
|
|
NM_001009944.3(PKD1):c.6207C>T (p.Gly2069=)
|
rs1478973195
|
|
NM_001009944.3(PKD1):c.6307C>T (p.Gln2103Ter)
|
rs1555454512
|
|
NM_001009944.3(PKD1):c.6323_6330delinsACTCCTACCT (p.Pro2108fs)
|
rs2092427579
|
|
NM_001009944.3(PKD1):c.6323_6334del (p.Pro2108_Glu2111del)
|
rs2092427430
|
|
NM_001009944.3(PKD1):c.6367C>T (p.Gln2123Ter)
|
rs762911981
|
|
NM_001009944.3(PKD1):c.6406C>T (p.Gln2136Ter)
|
rs2092425533
|
|
NM_001009944.3(PKD1):c.6472C>T (p.Gln2158Ter)
|
rs2092423837
|
|
NM_001009944.3(PKD1):c.6487C>T (p.Arg2163Ter)
|
rs1555454411
|
|
NM_001009944.3(PKD1):c.6560G>A (p.Trp2187Ter)
|
rs1161210869
|
|
NM_001009944.3(PKD1):c.6574_6580del (p.Thr2192fs)
|
rs2092420672
|
|
NM_001009944.3(PKD1):c.6583_6589del (p.Cys2195fs)
|
rs1555454353
|
|
NM_001009944.3(PKD1):c.6588G>A (p.Gln2196=)
|
rs2092420452
|
|
NM_001009944.3(PKD1):c.6625G>T (p.Val2209Leu)
|
rs745677305
|
|
NM_001009944.3(PKD1):c.6658C>T (p.Arg2220Trp)
|
rs769509393
|
|
NM_001009944.3(PKD1):c.6714C>G (p.Asp2238Glu)
|
rs2092416905
|
|
NM_001009944.3(PKD1):c.6819C>T (p.Asp2273=)
|
rs372298966
|
|
NM_001009944.3(PKD1):c.6826C>G (p.Leu2276Val)
|
rs2092413572
|
|
NM_001009944.3(PKD1):c.6831T>A (p.Asp2277Glu)
|
rs2092413339
|
|
NM_001009944.3(PKD1):c.6832G>A (p.Gly2278Arg)
|
rs1555454145
|
|
NM_001009944.3(PKD1):c.6916-9G>A
|
rs1567190244
|
|
NM_001009944.3(PKD1):c.6994_7000dup (p.Val2334fs)
|
rs1555453872
|
|
NM_001009944.3(PKD1):c.7023C>T (p.Thr2341=)
|
rs555685116
|
|
NM_001009944.3(PKD1):c.7066-10C>G
|
rs776383013
|
|
NM_001009944.3(PKD1):c.7137C>G (p.Tyr2379Ter)
|
rs752114168
|
|
NM_001009944.3(PKD1):c.7174del (p.Arg2392fs)
|
rs1555453360
|
|
NM_001009944.3(PKD1):c.7204C>T (p.Arg2402Ter)
|
rs1567186946
|
|
NM_001009944.3(PKD1):c.7210-9T>A
|
rs1555453254
|
|
NM_001009944.3(PKD1):c.7265C>A (p.Thr2422Lys)
|
rs1555453210
|
|
NM_001009944.3(PKD1):c.7288C>T (p.Arg2430Ter)
|
rs2432403
|
|
NM_001009944.3(PKD1):c.7327G>T (p.Gly2443Ter)
|
rs1567186165
|
|
NM_001009944.3(PKD1):c.7341G>T (p.Thr2447=)
|
rs573611925
|
|
NM_001009944.3(PKD1):c.7350G>T (p.Val2450=)
|
rs2092342494
|
|
NM_001009944.3(PKD1):c.7375G>T (p.Gly2459Cys)
|
rs1555453102
|
|
NM_001009944.3(PKD1):c.7421del (p.Gly2474fs)
|
rs1237714286
|
|
NM_001009944.3(PKD1):c.7446C>G (p.Gly2482=)
|
rs775215483
|
|
NM_001009944.3(PKD1):c.7666C>T (p.Gln2556Ter)
|
rs1567184366
|
|
NM_001009944.3(PKD1):c.7749del (p.Leu2584fs)
|
rs2092323231
|
|
NM_001009944.3(PKD1):c.7804C>T (p.Gln2602Ter)
|
rs2092321430
|
|
NM_001009944.3(PKD1):c.7828G>A (p.Glu2610Lys)
|
rs774694720
|
|
NM_001009944.3(PKD1):c.7843C>T (p.Leu2615=)
|
rs771676768
|
|
NM_001009944.3(PKD1):c.7863+1del
|
rs2092319664
|
|
NM_001009944.3(PKD1):c.7864-1G>T
|
rs2092305301
|
|
NM_001009944.3(PKD1):c.7927C>T (p.Arg2643Cys)
|
rs1452322332
|
|
NM_001009944.3(PKD1):c.7973_7974del (p.Val2658fs)
|
rs2092302256
|
|
NM_001009944.3(PKD1):c.8016+11C>G
|
rs757750385
|
|
NM_001009944.3(PKD1):c.8017-11G>A
|
rs2092264285
|
|
NM_001009944.3(PKD1):c.8017-1G>C
|
rs2092263886
|
|
NM_001009944.3(PKD1):c.8022del (p.Ser2675fs)
|
rs2092263697
|
|
NM_001009944.3(PKD1):c.8087T>C (p.Leu2696Pro)
|
rs201238819
|
|
NM_001009944.3(PKD1):c.8087T>G (p.Leu2696Arg)
|
rs201238819
|
|
NM_001009944.3(PKD1):c.8091_8093del (p.Ile2697_Leu2698delinsMet)
|
rs2092261350
|
|
NM_001009944.3(PKD1):c.8095C>T (p.Gln2699Ter)
|
rs1222094213
|
|
NM_001009944.3(PKD1):c.8116_8125del (p.Thr2706fs)
|
rs2092260381
|
|
NM_001009944.3(PKD1):c.8138G>A (p.Gly2713Glu)
|
rs1395231369
|
|
NM_001009944.3(PKD1):c.8156T>C (p.Ile2719Thr)
|
rs2092259288
|
|
NM_001009944.3(PKD1):c.8184C>T (p.Ser2728=)
|
rs772197330
|
|
NM_001009944.3(PKD1):c.8200_8204delinsACACT (p.Pro2734_Gln2735delinsThrLeu)
|
rs2092207908
|
|
NM_001009944.3(PKD1):c.8207C>G (p.Pro2736Arg)
|
rs760592410
|
|
NM_001009944.3(PKD1):c.8279T>C (p.Met2760Thr)
|
rs879809222
|
|
NM_001009944.3(PKD1):c.8282G>C (p.Arg2761Pro)
|
rs145629362
|
|
NM_001009944.3(PKD1):c.8287_8289del (p.Leu2763del)
|
rs1555451280
|
|
NM_001009944.3(PKD1):c.8291T>C (p.Met2764Thr)
|
rs1596527405
|
|
NM_001009944.3(PKD1):c.8299C>T (p.Arg2767Cys)
|
rs2092203712
|
|
NM_001009944.3(PKD1):c.8308_8310del (p.Asn2770del)
|
rs2092203060
|
|
NM_001009944.3(PKD1):c.8388T>G (p.Tyr2796Ter)
|
rs2092200060
|
|
NM_001009944.3(PKD1):c.8405C>T (p.Pro2802Leu)
|
rs534112936
|
|
NM_001009944.3(PKD1):c.8411G>A (p.Cys2804Tyr)
|
rs1555451184
|
|
NM_001009944.3(PKD1):c.8423T>A (p.Ile2808Asn)
|
rs1567177764
|
|
NM_001009944.3(PKD1):c.8459G>T (p.Ser2820Ile)
|
rs750662535
|
|
NM_001009944.3(PKD1):c.8470C>T (p.Gln2824Ter)
|
rs2092196354
|
|
NM_001009944.3(PKD1):c.8538C>T (p.Thr2846=)
|
rs774274728
|
|
NM_001009944.3(PKD1):c.8545del (p.Ala2849fs)
|
rs1555451093
|
|
NM_001009944.3(PKD1):c.856_862del (p.Ser286_Gly287insTer)
|
rs1555459108
|
|
NM_001009944.3(PKD1):c.8672CCAACTCCG[1] (p.2891ANS[1])
|
rs763199524
|
|
NM_001009944.3(PKD1):c.8702C>T (p.Pro2901Leu)
|
rs2092181383
|
|
NM_001009944.3(PKD1):c.8749del (p.Ala2917fs)
|
rs2092179583
|
|
NM_001009944.3(PKD1):c.8791+40_10050+3del
|
|
|
NM_001009944.3(PKD1):c.8791+5G>C
|
rs751652400
|
|
NM_001009944.3(PKD1):c.8836del (p.Leu2946fs)
|
rs2092156841
|
|
NM_001009944.3(PKD1):c.8948+15C>T
|
rs778271516
|
|
NM_001009944.3(PKD1):c.9074_9076delinsA (p.Trp3025_Arg3026delinsTer)
|
rs1555450424
|
|
NM_001009944.3(PKD1):c.911G>A (p.Arg304His)
|
rs574313228
|
|
NM_001009944.3(PKD1):c.9155G>T (p.Gly3052Val)
|
rs769436046
|
|
NM_001009944.3(PKD1):c.9195_9196delinsCC (p.Phe3066Leu)
|
rs372874584
|
|
NM_001009944.3(PKD1):c.9240_9241del (p.Ala3082fs)
|
rs1567173924
|
|
NM_001009944.3(PKD1):c.9251G>A (p.Cys3084Tyr)
|
rs2092123424
|
|
NM_001009944.3(PKD1):c.9401C>T (p.Thr3134Ile)
|
rs2092053154
|
|
NM_001009944.3(PKD1):c.9404C>T (p.Thr3135Met)
|
rs1555449635
|
|
NM_001009944.3(PKD1):c.9512C>T (p.Ala3171Val)
|
rs2092048001
|
|
NM_001009944.3(PKD1):c.9547C>T (p.Arg3183Ter)
|
rs1485297878
|
|
NM_001009944.3(PKD1):c.9585G>A (p.Trp3195Ter)
|
rs1596514027
|
|
NM_001009944.3(PKD1):c.9585_9591del (p.Trp3195fs)
|
rs2092039663
|
|
NM_001009944.3(PKD1):c.974A>G (p.Tyr325Cys)
|
rs1232180956
|
|
NM_001009944.3(PKD1):c.9758T>A (p.Leu3253Gln)
|
rs2092025452
|
|
NM_001009944.3(PKD1):c.9889G>A (p.Val3297Met)
|
rs775497330
|
|
NM_001009944.3(PKD1):c.9991G>A (p.Val3331Met)
|
rs541894980
|
|
NM_001010876.2(TMEM244):c.194-1G>T
|
rs199684936
|
|
NM_001012759.3(CTU2):c.377G>C (p.Arg126Thr)
|
rs777379637
|
|
NM_001018115.3(FANCD2):c.1166A>G (p.Tyr389Cys)
|
rs2087019381
|
|
NM_001018115.3(FANCD2):c.2022-5C>T
|
rs4019784
|
|
NM_001029883.3(PCARE):c.3014C>A (p.Ala1005Glu)
|
rs761782513
|
|
NM_001029883.3(PCARE):c.920T>A (p.Leu307Ter)
|
rs1397537890
|
|
NM_001034853.2(RPGR):c.3143A>G (p.Lys1048Arg)
|
rs2147190857
|
|
NM_001038.6(SCNN1A):c.1439+1G>T
|
rs1369791519
|
|
NM_001039141.3(TRIOBP):c.1866_1867del (p.Asp622fs)
|
rs2145833327
|
|
NM_001040108.2(MLH3):c.1768T>C (p.Cys590Arg)
|
rs2139576463
|
|
NM_001042646.3(TRAK1):c.286+23941C>T
|
rs1018509561
|
|
NM_001044385.3(TMEM237):c.241C>T (p.Gln81Ter)
|
rs2105902326
|
|
NM_001048174.2(MUTYH):c.1063del (p.Ala357fs)
|
rs587778536
|
|
NM_001048174.2(MUTYH):c.116-55C>T
|
rs1316542179
|
|
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del)
|
rs587778541
|
|
NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter)
|
rs121908381
|
|
NM_001048174.2(MUTYH):c.1393-51_*2del
|
|
|
NM_001048174.2(MUTYH):c.225G>A (p.Trp75Ter)
|
rs748170941
|
|
NM_001048174.2(MUTYH):c.228C>A (p.Tyr76Ter)
|
rs121908380
|
|
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=)
|
rs121908380
|
|
NM_001048174.2(MUTYH):c.305-1G>A
|
rs372267274
|
|
NM_001048174.2(MUTYH):c.391C>A (p.Leu131Met)
|
rs199862273
|
|
NM_001048174.2(MUTYH):c.629A>G (p.Asn210Ser)
|
rs1057517765
|
|
NM_001048174.2(MUTYH):c.707G>T (p.Gly236Val)
|
rs1570404090
|
|
NM_001048174.2(MUTYH):c.763A>G (p.Met255Val)
|
rs876659676
|
|
NM_001048174.2(MUTYH):c.775del (p.Ala259fs)
|
rs761468459
|
|
NM_001048174.2(MUTYH):c.806G>T (p.Cys269Phe)
|
rs879254257
|
|
NM_001080.3(ALDH5A1):c.1343+1_1343+3delinsTT
|
rs875989801
|
|
NM_001082538.3(TCTN1):c.699TAA[1] (p.Asn235del)
|
rs797046038
|
|
NM_001083603.3(PTCH1):c.130GAA[4] (p.Glu48del)
|
rs112914470
|
|
NM_001085.5(SERPINA3):c.370C>G (p.Arg124Gly)
|
rs116880457
|
|
NM_001085377.2(MCC):c.1620A>T (p.Glu540Asp)
|
rs2150243862
|
|
NM_001085458.2(CTNND1):c.2318A>G (p.Asp773Gly)
|
rs2137425324
|
|
NM_001098816.3(TENM4):c.7474C>A (p.Pro2492Thr)
|
rs766448601
|
|
NM_001099433.2(JAKMIP1):c.1391C>T (p.Thr464Ile)
|
rs995849470
|
|
NM_001099922.3(ALG13):c.383+2885G>A
|
rs2147754268
|
|
NM_001102608.3(COL6A6):c.5882_5885dup (p.Tyr1963fs)
|
rs771245474
|
|
NM_001104631.2(PDE4D):c.240_254del (p.Leu81_Pro85del)
|
rs755378627
|
|
NM_001105206.3(LAMA4):c.673G>A (p.Ala225Thr)
|
rs782121531
|
|
NM_001109878.2(TBX22):c.185C>G (p.Pro62Arg)
|
rs1402938365
|
|
NM_001110.4(ADAM10):c.239C>T (p.Ser80Phe)
|
rs2140755160
|
|
NM_001110.4(ADAM10):c.632A>G (p.Lys211Arg)
|
rs201482030
|
|
NM_001111.5(ADAR):c.787G>C (p.Asp263His)
|
rs766779037
|
|
NM_001122630.2(CDKN1C):c.*145T>C
|
rs1240499527
|
|
NM_001122630.2(CDKN1C):c.573GGCCCC[2] (p.186AP[8])
|
rs759134767
|
|
NM_001123385.2(BCOR):c.2903A>G (p.Asn968Ser)
|
rs2147200517
|
|
NM_001124758.3(SPNS2):c.220ACCCCCGGC[1] (p.74TPG[1])
|
rs763007985
|
|
NM_001127.4(AP1B1):c.1280G>T (p.Ser427Ile)
|
rs1183324698
|
|
NM_001127.4(AP1B1):c.565G>C (p.Glu189Gln)
|
rs570779704
|
|
NM_001127381.1(PPP2R2B):c.-183_-181GCA[4]
|
rs10591869
|
|
NM_001127511.3(APC):c.166-28467del
|
rs2149682255
|
|
NM_001127511.3(APC):c.166-28469_166-27547del
|
rs2149682237
|
|
NM_001127511.3(APC):c.166-28469_166-28161del
|
rs2149682229
|
|
NM_001128164.2(ATXN1):c.588GCA[12] (p.Gln208del)
|
rs193922926
|
|
NM_001128425.2(MUTYH):c.37G>A (p.Ala13Thr)
|
rs375349172
|
|
NM_001128840.3(CACNA1D):c.2751+14G>T
|
rs748663117
|
|
NM_001128840.3(CACNA1D):c.5767_5769del (p.Phe1923del)
|
rs72556363
|
|
NM_001130438.3(SPTAN1):c.1341G>A (p.Glu447=)
|
rs2131088001
|
|
NM_001130823.3(DNMT1):c.1703G>A (p.Arg568Gln)
|
rs748821501
|
|
NM_001136239.4(PRDM6):c.741G>T (p.Glu247Asp)
|
rs1764056491
|
|
NM_001142459.2(ASB10):c.731G>A (p.Arg244His)
|
rs104886476
|
|
NM_001142616.3(EHBP1):c.585TGA[2] (p.Asp197del)
|
rs1447600154
|
|
NM_001142617.2(STRA6):c.-16+1080T>G
|
rs2142112800
|
|
NM_001142800.2(EYS):c.3075T>G (p.His1025Gln)
|
rs2150022749
|
|
NM_001142800.2(EYS):c.7748G>C (p.Arg2583Pro)
|
rs564020009
|
|
NM_001142864.4(PIEZO1):c.5290G>C (p.Glu1764Gln)
|
rs749976222
|
|
NM_001142864.4(PIEZO1):c.5937C>G (p.Phe1979Leu)
|
rs1236012452
|
|
NM_001142966.3(GREB1L):c.2401C>T (p.His801Tyr)
|
rs1176999137
|
|
NM_001142966.3(GREB1L):c.409A>C (p.Ile137Leu)
|
rs2041014360
|
|
NM_001142966.3(GREB1L):c.4312A>G (p.Thr1438Ala)
|
rs78312929
|
|
NM_001145809.2(MYH14):c.415G>A (p.Gly139Ser)
|
rs768207483
|
|
NM_001145809.2(MYH14):c.5047G>T (p.Glu1683Ter)
|
rs2123450185
|
|
NM_001145809.2(MYH14):c.5048A>T (p.Glu1683Val)
|
rs2123450202
|
|
NM_001164277.2(SLC37A4):c.1154G>A (p.Ser385Asn)
|
rs782603818
|
|
NM_001164508.2(NEB):c.21656G>T (p.Arg7219Ile)
|
rs913038475
|
|
NM_001164508.2(NEB):c.612+5G>A
|
rs775692122
|
|
NM_001166108.2(PALLD):c.1965-12694CCA[3]
|
rs201979617
|
|
NM_001166108.2(PALLD):c.260G>C (p.Gly87Ala)
|
rs2149427632
|
|
NM_001173464.2(KIF21A):c.1839AGA[1] (p.Glu621del)
|
rs1453778990
|
|
NM_001184.4(ATR):c.4068A>C (p.Glu1356Asp)
|
rs534071055
|
|
NM_001190274.2(FBXO11):c.924G>C (p.Met308Ile)
|
rs1219431687
|
|
NM_001191057.4(PDE1C):c.496G>A (p.Val166Met)
|
rs746804294
|
|
NM_001191061.2(SLC25A22):c.406C>T (p.Arg136Cys)
|
rs758107712
|
|
NM_001195.5(BFSP1):c.1679G>A (p.Arg560His)
|
rs142869476
|
|
NM_001195755.2(FFAR4):c.226T>G (p.Cys76Gly)
|
rs147767392
|
|
NM_001211.6(BUB1B):c.2472C>G (p.Ser824Arg)
|
rs1262972802
|
|
NM_001256071.3(RNF213):c.11848G>C (p.Glu3950Gln)
|
rs149449382
|
|
NM_001256071.3(RNF213):c.3373A>G (p.Lys1125Glu)
|
rs1180659875
|
|
NM_001256271.2(VSX1):c.689C>T (p.Pro230Leu)
|
rs2122831851
|
|
NM_001257291.2(SLC9A7):c.479G>T (p.Ser160Ile)
|
rs2146870204
|
|
NM_001264.5(CDSN):c.870C>A (p.Asp290Glu)
|
rs747535254
|
|
NM_001267550.2(TTN):c.16077del (p.Phe5359fs)
|
rs2080842093
|
|
NM_001267550.2(TTN):c.30683-2delinsTTTTTTTTTT
|
rs2154286648
|
|
NM_001267550.2(TTN):c.31048G>A (p.Val10350Ile)
|
rs1553864204
|
|
NM_001267550.2(TTN):c.31168G>C (p.Glu10390Gln)
|
rs2073620188
|
|
NM_001267550.2(TTN):c.32653A>G (p.Met10885Val)
|
rs200732179
|
|
NM_001267550.2(TTN):c.78676G>C (p.Glu26226Gln)
|
rs754878387
|
|
NM_001267550.2(TTN):c.96235G>A (p.Asp32079Asn)
|
rs200540781
|
|
NM_001270508.2(TNFAIP3):c.1711G>C (p.Val571Leu)
|
rs748312513
|
|
NM_001270974.2(HYDIN):c.6037A>G (p.Ser2013Gly)
|
rs2143946701
|
|
NM_001271803.2(REEP2):c.105+8G>A
|
rs1196305930
|
|
NM_001271893.4(TWIST2):c.83G>A (p.Arg28His)
|
rs930389695
|
|
NM_001273.5(CHD4):c.571G>T (p.Ala191Ser)
|
rs2136224932
|
|
NM_001277115.2(DNAH11):c.13163-1G>A
|
rs762596479
|
|
NM_001289104.2(PRKCSH):c.809A>T (p.Asp270Val)
|
rs141530441
|
|
NM_001298.3(CNGA3):c.242G>A (p.Arg81His)
|
rs149230055
|
|
NM_001301071.2(DOK7):c.1499G>A (p.Gly500Glu)
|
rs577616504
|
|
NM_001304388.2(GOLGA6L2):c.1699_1700insAAGCAGGAGGAGAAGATGCGG (p.Ala566_Gly567insGluAlaGlyGlyGluAspAla)
|
rs748500078
|
|
NM_001308210.2(TSHZ1):c.1028C>T (p.Ala343Val)
|
rs2023764946
|
|
NM_001317163.2(C5):c.79del (p.Cys27fs)
|
rs1362872776
|
|
NM_001318852.2(MAPK8IP3):c.1370A>C (p.Glu457Ala)
|
rs767787609
|
|
NM_001319206.4(MEF2A):c.123_124del (p.Cys41_Glu42delinsTer)
|
rs1226726746
|
|
NM_001320198.2(KRT86):c.735+4C>A
|
rs768312774
|
|
NM_001322934.2(NFKB2):c.208A>T (p.Ser70Cys)
|
rs2135429484
|
|
NM_001329.4(CTBP2):c.1217del (p.Ile406fs)
|
rs748974251
|
|
NM_001329.4(CTBP2):c.1218C>A (p.Ile406=)
|
rs796230948
|
|
NM_001329.4(CTBP2):c.1220dup (p.Gly409fs)
|
rs35551618
|
|
NM_001330311.2(DVL1):c.1602G>A (p.Leu534=)
|
rs752706599
|
|
NM_001330311.2(DVL1):c.1850G>T (p.Arg617Leu)
|
rs140108185
|
|
NM_001348716.2(KDM6B):c.753ACC[8] (p.Pro260_Pro264del)
|
rs61462443
|
|
NM_001349253.2(SCN11A):c.2222C>G (p.Pro741Arg)
|
rs369499148
|
|
NM_001352514.2(HLCS):c.1233C>G (p.His411Gln)
|
rs1601802008
|
|
NM_001352514.2(HLCS):c.1856C>G (p.Ala619Gly)
|
rs767190021
|
|
NM_001352514.2(HLCS):c.95C>T (p.Ser32Leu)
|
rs911599606
|
|
NM_001354604.2(MITF):c.582+307T>G
|
rs1280700007
|
|
NM_001354604.2(MITF):c.674A>G (p.Asp225Gly)
|
rs760625551
|
|
NM_001354768.3(NRL):c.496A>T (p.Thr166Ser)
|
rs2138869899
|
|
NM_001358530.2(MOCS1):c.1744C>G (p.Arg582Gly)
|
rs146849119
|
|
NM_001358530.2(MOCS1):c.938G>T (p.Gly313Val)
|
rs2149402889
|
|
NM_001360.3(DHCR7):c.964-1G>C
|
rs138659167
|
|
NM_001365088.1(SLC12A6):c.1100T>C (p.Phe367Ser)
|
rs2140717533
|
|
NM_001365088.1(SLC12A6):c.2436+1del
|
rs515726215
|
|
NM_001365276.2(TNXB):c.7677G>C (p.Arg2559Ser)
|
rs2151903803
|
|
NM_001366900.1(TTC21A):c.50A>G (p.Gln17Arg)
|
rs762980982
|
|
NM_001367943.1(TCF7L2):c.84G>C (p.Glu28Asp)
|
rs373425129
|
|
NM_001369.3(DNAH5):c.13630G>A (p.Gly4544Ser)
|
rs747063945
|
|
NM_001369.3(DNAH5):c.1639C>T (p.Leu547Phe)
|
rs1775975227
|
|
NM_001369268.1(ACAN):c.2999T>G (p.Val1000Gly)
|
rs2141604355
|
|
NM_001369268.1(ACAN):c.4111G>C (p.Asp1371His)
|
rs1281606349
|
|
NM_001369268.1(ACAN):c.4223_4224insTGAGATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGA (p.Val1407_Glu1408insAspGluIleSerGlyLeuProSerGlyGluValLeuGluThrThrAlaProGlyVal)
|
rs1897051448
|
|
NM_001369268.1(ACAN):c.5753C>T (p.Pro1918Leu)
|
rs2141610695
|
|
NM_001370100.5(ZMYND11):c.1384G>A (p.Val462Met)
|
rs537691769
|
|
NM_001370298.3(FGD4):c.2602T>C (p.Trp868Arg)
|
rs980987965
|
|
NM_001370497.1(ABCC11):c.2838A>T (p.Leu946Phe)
|
rs1159134968
|
|
NM_001371904.1(APOA5):c.761G>T (p.Arg254Leu)
|
rs2134202927
|
|
NM_001372.4(DNAH9):c.1064C>T (p.Pro355Leu)
|
rs373491778
|
|
NM_001374353.1(GLI2):c.3028C>T (p.Arg1010Trp)
|
rs1404870952
|
|
NM_001374353.1(GLI2):c.3307T>C (p.Ser1103Pro)
|
rs1246994636
|
|
NM_001374353.1(GLI2):c.4509T>G (p.Asp1503Glu)
|
rs148902971
|
|
NM_001375462.1(LPP):c.457C>A (p.Pro153Thr)
|
rs780877086
|
|
NM_001375524.1(TRRAP):c.4652G>A (p.Arg1551Gln)
|
rs1791178279
|
|
NM_001376.5(DYNC1H1):c.8611A>G (p.Ile2871Val)
|
rs2152586435
|
|
NM_001376013.1(EPB41):c.220T>C (p.Ser74Pro)
|
rs2149521081
|
|
NM_001376232.1(ZP2):c.278A>G (p.Asp93Gly)
|
rs1294362985
|
|
NM_001377.3(DYNC2H1):c.6709C>G (p.Arg2237Gly)
|
rs763241302
|
|
NM_001378183.1(PIEZO2):c.3956T>G (p.Phe1319Cys)
|
rs2143770600
|
|
NM_001378183.1(PIEZO2):c.8179A>T (p.Ile2727Phe)
|
rs952699419
|
|
NM_001378418.1(TCF20):c.1402A>C (p.Asn468His)
|
rs2147217206
|
|
NM_001378418.1(TCF20):c.2549A>C (p.Gln850Pro)
|
rs761364551
|
|
NM_001378454.1(ALMS1):c.8917G>A (p.Ala2973Thr)
|
rs2103893908
|
|
NM_001378615.1(CC2D2A):c.248-2A>T
|
rs779437509
|
|
NM_001378615.1(CC2D2A):c.311T>A (p.Met104Lys)
|
rs2108998358
|
|
NM_001378743.1(CYLD):c.505-8A>G
|
rs2150903246
|
|
NM_001379081.2(FREM1):c.4064A>C (p.His1355Pro)
|
rs763901210
|
|
NM_001379081.2(FREM1):c.4204C>G (p.Leu1402Val)
|
rs770679670
|
|
NM_001379081.2(FREM1):c.617T>C (p.Phe206Ser)
|
rs2131557195
|
|
NM_001379659.1(ZNF142):c.3140G>A (p.Arg1047Gln)
|
rs781345614
|
|
NM_001382567.1(STIM1):c.98G>C (p.Gly33Ala)
|
rs2135170857
|
|
NM_001384140.1(PCDH15):c.4368-3205G>A
|
rs776152870
|
|
NM_001384140.1(PCDH15):c.4671+1064G>T
|
rs778362385
|
|
NM_001384474.1(LOXHD1):c.4006G>T (p.Val1336Leu)
|
rs149068207
|
|
NM_001388.5(DRG2):c.315+9del
|
rs576131367
|
|
NM_001388419.1(KALRN):c.6689G>A (p.Arg2230Gln)
|
rs747043605
|
|
NM_001388492.1(HTT):c.54GCA[27] (p.Gln31_Gln38dup)
|
rs71180116
|
|
NM_001394062.1(MACF1):c.15131G>A (p.Cys5044Tyr)
|
rs764834184
|
|
NM_001394477.1(FCGR2B):c.550C>T (p.Pro184Ser)
|
rs772853792
|
|
NM_001395413.1(POR):c.1721T>C (p.Leu574Pro)
|
rs56256515
|
|
NM_001395426.1(PDE4DIP):c.*8C>T
|
rs183737546
|
|
NM_001407314.1(PALB2):c.49-1193del
|
rs1597091518
|
|
NM_001429.4(EP300):c.695G>C (p.Gly232Ala)
|
rs1261612920
|
|
NM_001447.3(FAT2):c.11915G>A (p.Cys3972Tyr)
|
rs2127568038
|
|
NM_001447.3(FAT2):c.6437G>A (p.Arg2146Gln)
|
rs141929328
|
|
NM_001453.3(FOXC1):c.587_638del (p.Pro196fs)
|
rs2113112074
|
|
NM_001458.5(FLNC):c.4216A>T (p.Thr1406Ser)
|
rs2128937040
|
|
NM_001466.4(FZD2):c.572G>T (p.Arg191Leu)
|
rs2144572805
|
|
NM_001486.4(GCKR):c.271C>A (p.Gln91Lys)
|
rs747595070
|
|
NM_001620.3(AHNAK):c.7161_7162insTAATG (p.Met2388Ter)
|
rs1181486224
|
|
NM_001620.3(AHNAK):c.7166_7167del (p.Pro2389fs)
|
rs1249988099
|
|
NM_001651.4(AQP5):c.88G>A (p.Gly30Ser)
|
rs139623970
|
|
NM_001735.3(C5):c.4143C>A (p.Ile1381=)
|
rs150804933
|
|
NM_001807.6(CEL):c.1211TGG[1] (p.Val405del)
|
rs2119067097
|
|
NM_001844.5(COL2A1):c.3511C>T (p.Pro1171Ser)
|
rs147750391
|
|
NM_001846.4(COL4A2):c.980A>G (p.Tyr327Cys)
|
rs1881300877
|
|
NM_001851.6(COL9A1):c.1904C>A (p.Ser635Tyr)
|
rs2127566645
|
|
NM_001853.4(COL9A3):c.116C>G (p.Pro39Arg)
|
rs1028982816
|
|
NM_001853.4(COL9A3):c.1786+5G>A
|
rs2147229797
|
|
NM_001903.5(CTNNA1):c.2T>C (p.Met1Thr)
|
rs2149651722
|
|
NM_001903.5(CTNNA1):c.551T>C (p.Val184Ala)
|
rs1448027258
|
|
NM_001940.4(ATN1):c.1464GCA[10] (p.Gln498_Gln502del)
|
rs60216939
|
|
NM_001940.4(ATN1):c.1464GCA[8] (p.Gln496_Gln502del)
|
rs60216939
|
|
NM_001942.4(DSG1):c.2485C>T (p.Pro829Ser)
|
rs556017565
|
|
NM_001961.4(EEF2):c.143C>T (p.Ser48Leu)
|
rs1407899802
|
|
NM_001963.6(EGF):c.3586G>A (p.Ala1196Thr)
|
rs2126206950
|
|
NM_001987.5(ETV6):c.*565dup
|
rs372555234
|
|
NM_001999.4(FBN2):c.139G>T (p.Val47Phe)
|
rs2112810860
|
|
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter)
|
rs61816761
|
|
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs)
|
rs558269137
|
|
NM_002016.2(FLG):c.4960G>C (p.Gly1654Arg)
|
rs1652272332
|
|
NM_002016.2(FLG):c.6950_6957del (p.Ala2316_Ser2317insTer)
|
rs578184315
|
|
NM_002016.2(FLG):c.8509G>C (p.Ala2837Pro)
|
rs751798732
|
|
NM_002109.6(HARS1):c.1420G>A (p.Gly474Arg)
|
rs971012132
|
|
NM_002124.4(HLA-DRB1):c.379A>G (p.Lys127Glu)
|
rs17405219
|
|
NM_002133.3(HMOX1):c.334_345del (p.Gln112_Val115del)
|
rs2145767013
|
|
NM_002160.4(TNC):c.1489C>T (p.Arg497Trp)
|
rs534887266
|
|
NM_002230.4(JUP):c.1234A>G (p.Thr412Ala)
|
rs2143564484
|
|
NM_002272.4(KRT4):c.259_260insCCGGCGGCTTCGGAGCTGGTTTCGGCACTGGTGGCTTTGGTG (p.Gly86_Gly87insAlaGlyGlyPheGlyAlaGlyPheGlyThrGlyGlyPheGly)
|
rs11267392
|
|
NM_002315.3(LMO1):c.385T>A (p.Phe129Ile)
|
rs2134505216
|
|
NM_002354.2(EPCAM):c.904-?_945+?del
|
|
|
NM_002354.3(EPCAM):c.-2_77del (p.Met1fs)
|
rs2103737908
|
|
NM_002354.3(EPCAM):c.294C>G (p.Asp98Glu)
|
rs756803114
|
|
NM_002354.3(EPCAM):c.556-3_657+288del
|
rs2103756948
|
|
NM_002354.3(EPCAM):c.859-2_903+43del
|
rs2103768437
|
|
NM_002430.3(MN1):c.1596_1619del (p.Gln543_Gln550del)
|
rs755868492
|
|
NM_002449.5(MSX2):c.572A>G (p.Gln191Arg)
|
rs1760875161
|
|
NM_002458.3(MUC5B):c.12243C>A (p.Ser4081=)
|
rs771872461
|
|
NM_002458.3(MUC5B):c.13164G>T (p.Thr4388=)
|
rs370908099
|
|
NM_002461.3(MVD):c.1055C>G (p.Ala352Gly)
|
rs2142891225
|
|
NM_002465.4(MYBPC1):c.1414G>C (p.Gly472Arg)
|
rs2136293199
|
|
NM_002470.4(MYH3):c.5254G>T (p.Ala1752Ser)
|
rs34393601
|
|
NM_002471.4(MYH6):c.2401A>T (p.Ile801Phe)
|
rs75487328
|
|
NM_002471.4(MYH6):c.3428G>A (p.Arg1143Gln)
|
rs543585784
|
|
NM_002476.2(MYL4):c.137T>G (p.Ile46Arg)
|
rs1335950112
|
|
NM_002485.5(NBN):c.1124+11_1124+13del
|
rs747584990
|
|
NM_002485.5(NBN):c.1202C>G (p.Pro401Arg)
|
rs104895033
|
|
NM_002485.5(NBN):c.1264G>T (p.Ala422Ser)
|
rs1336243918
|
|
NM_002485.5(NBN):c.1399G>T (p.Glu467Ter)
|
rs1554558613
|
|
NM_002485.5(NBN):c.1516C>G (p.Gln506Glu)
|
rs876658535
|
|
NM_002485.5(NBN):c.2071-1175_2184+2del
|
|
|
NM_002485.5(NBN):c.2082T>C (p.Pro694=)
|
rs7823648
|
|
NM_002485.5(NBN):c.350CTT[1] (p.Ser118del)
|
rs730881841
|
|
NM_002485.5(NBN):c.459A>G (p.Val153=)
|
rs566630862
|
|
NM_002485.5(NBN):c.481-11C>T
|
rs2129890419
|
|
NM_002485.5(NBN):c.657_661del (p.Lys219fs)
|
rs587776650
|
|
NM_002485.5(NBN):c.698_701del (p.Lys233fs)
|
rs587780100
|
|
NM_002485.5(NBN):c.758C>T (p.Thr253Ile)
|
rs61754967
|
|
NM_002485.5(NBN):c.804G>T (p.Thr268=)
|
rs141443872
|
|
NM_002485.5(NBN):c.832T>G (p.Ser278Ala)
|
rs1225178489
|
|
NM_002485.5(NBN):c.911C>G (p.Pro304Arg)
|
rs536965870
|
|
NM_002491.3(NDUFB3):c.177G>C (p.Lys59Asn)
|
rs569880652
|
|
NM_002500.5(NEUROD1):c.227A>T (p.Asp76Val)
|
rs1422837565
|
|
NM_002528.7(NTHL1):c.137C>T (p.Pro46Leu)
|
rs2150947574
|
|
NM_002528.7(NTHL1):c.859C>T (p.Pro287Ser)
|
rs1372041658
|
|
NM_002645.4(PIK3C2A):c.1784C>G (p.Ala595Gly)
|
rs2137395316
|
|
NM_002691.4(POLD1):c.-1-12C>T
|
rs778338383
|
|
NM_002691.4(POLD1):c.1243-11CTC[2]
|
rs760329559
|
|
NM_002691.4(POLD1):c.1433G>A (p.Ser478Asn)
|
rs397514632
|
|
NM_002691.4(POLD1):c.1892+9C>G
|
rs1060504366
|
|
NM_002691.4(POLD1):c.2861C>T (p.Thr954Met)
|
rs374016016
|
|
NM_002691.4(POLD1):c.2954G>A (p.Arg985Gln)
|
rs749159160
|
|
NM_002691.4(POLD1):c.3218+9_3218+10inv
|
|
|
NM_002691.4(POLD1):c.463+8_463+9delinsTT
|
rs796285537
|
|
NM_002693.3(POLG):c.2483A>T (p.His828Leu)
|
rs533807211
|
|
NM_002693.3(POLG):c.3151G>C (p.Gly1051Arg)
|
rs121918049
|
|
NM_002700.3(POU4F3):c.256G>C (p.Val86Leu)
|
rs1581278182
|
|
NM_002709.3(PPP1CB):c.94G>A (p.Ala32Thr)
|
rs760562458
|
|
NM_002734.5(PRKAR1A):c.534T>G (p.Asp178Glu)
|
rs2085739503
|
|
NM_002769.5(PRSS1):c.86A>T (p.Asn29Ile)
|
rs111033566
|
|
NM_002838.5(PTPRC):c.3028G>T (p.Asp1010Tyr)
|
rs2102538291
|
|
NM_002878.4(RAD51D):c.141C>G (p.Tyr47Ter)
|
rs771077929
|
|
NM_002878.4(RAD51D):c.33C>T (p.Gly11=)
|
rs760444811
|
|
NM_002878.4(RAD51D):c.576+6C>G
|
rs2142428719
|
|
NM_002878.4(RAD51D):c.768C>G (p.Asp256Glu)
|
rs569428131
|
|
NM_002878.4(RAD51D):c.844G>A (p.Glu282Lys)
|
rs1447892901
|
|
NM_002900.3(RBP3):c.2219C>T (p.Pro740Leu)
|
rs2132254815
|
|
NM_002907.4(RECQL):c.132_135del (p.Lys44_Lys45insTer)
|
rs775055596
|
|
NM_002907.4(RECQL):c.1877A>G (p.Lys626Arg)
|
rs555780310
|
|
NM_002907.4(RECQL):c.644G>T (p.Arg215Leu)
|
rs561515655
|
|
NM_002968.3(SALL1):c.448AGC[16] (p.Ser154_Ser159dup)
|
rs113614842
|
|
NM_003000.3(SDHB):c.188T>C (p.Val63Ala)
|
rs1230335211
|
|
NM_003000.3(SDHB):c.395A>G (p.His132Arg)
|
rs74315372
|
|
NM_003000.3(SDHB):c.659T>C (p.Ile220Thr)
|
rs878854578
|
|
NM_003060.4(SLC22A5):c.394-212del
|
rs2126775292
|
|
NM_003072.5(SMARCA4):c.722_733del (p.229GP[6])
|
rs568390760
|
|
NM_003119.4(SPG7):c.50C>A (p.Pro17Gln)
|
rs956304326
|
|
NM_003126.4(SPTA1):c.4240C>G (p.Arg1414Gly)
|
rs201399968
|
|
NM_003194.5(TBP):c.222_224del (p.Gln95del)
|
rs1562359513
|
|
NM_003194.5(TBP):c.225GCA[10] (p.Gln87_Gln95del)
|
rs752404282
|
|
NM_003227.4(TFR2):c.2098G>C (p.Glu700Gln)
|
rs747870790
|
|
NM_003235.5(TG):c.6131G>T (p.Arg2044Leu)
|
rs573866267
|
|
NM_003235.5(TG):c.665G>A (p.Ser222Asn)
|
rs1814693797
|
|
NM_003412.4(ZIC1):c.312C>A (p.Asn104Lys)
|
rs1157722681
|
|
NM_003466.4(PAX8):c.580G>A (p.Asp194Asn)
|
rs769309449
|
|
NM_003482.4(KMT2D):c.1517C>A (p.Pro506Gln)
|
rs367925817
|
|
NM_003613.4(CILP):c.112A>G (p.Lys38Glu)
|
rs2140682930
|
|
NM_003661.3(APOL1):c.[1024A>G;1152T>G]
|
|
|
NM_003690.5(PRKRA):c.515-2_515-1insCCTGCTCATAAGAGAGAATATACTACAATTTGCAGGCTAGAGTCATTTATGGAAACT
|
rs779497940
|
|
NM_003690.5(PRKRA):c.610-1_610insGAATGCTGCTGAGAAATTTCTTGCCAAATTTAGTAATATTTCTCCAGAGAACCACATTTCTTTA
|
rs775832077
|
|
NM_003718.5(CDK13):c.748AGC[6] (p.Ser254dup)
|
rs746568580
|
|
NM_003737.4(DCHS1):c.701C>G (p.Pro234Arg)
|
rs149022037
|
|
NM_003738.5(PTCH2):c.1864C>A (p.His622Asn)
|
rs11573586
|
|
NM_003738.5(PTCH2):c.1864C>T (p.His622Tyr)
|
rs11573586
|
|
NM_003738.5(PTCH2):c.2692C>G (p.Arg898Gly)
|
rs759692145
|
|
NM_003738.5(PTCH2):c.3505del (p.Leu1169fs)
|
rs763413121
|
|
NM_003839.4(TNFRSF11A):c.1696A>T (p.Met566Leu)
|
rs781554550
|
|
NM_003868.3(FGF16):c.617A>G (p.Tyr206Cys)
|
rs2062572977
|
|
NM_003924.4(PHOX2B):c.741_758del (p.Ala255_Ala260del)
|
rs771383153
|
|
NM_004006.3(DMD):c.1005G>A (p.Met335Ile)
|
rs2146835173
|
|
NM_004006.3(DMD):c.980A>T (p.Asp327Val)
|
rs2146835747
|
|
NM_004035.7(ACOX1):c.16C>A (p.Arg6Ser)
|
rs141670654
|
|
NM_004044.7(ATIC):c.682A>T (p.Ile228Phe)
|
rs538280049
|
|
NM_004064.5(CDKN1B):c.283C>T (p.Pro95Ser)
|
rs188579132
|
|
NM_004132.5(HABP2):c.83C>G (p.Ser28Cys)
|
rs1845222049
|
|
NM_004136.4(IREB2):c.733A>T (p.Ile245Phe)
|
rs191113858
|
|
NM_004153.4(ORC1):c.692del (p.Pro231fs)
|
rs1362231446
|
|
NM_004168.4(SDHA):c.*13T>C
|
rs1042476
|
|
NM_004168.4(SDHA):c.1346C>T (p.Ala449Val)
|
rs201139275
|
|
NM_004168.4(SDHA):c.1909-12_1909-11del
|
rs372662724
|
|
NM_004260.4(RECQL4):c.84G>C (p.Gln28His)
|
rs1586835584
|
|
NM_004304.5(ALK):c.2762T>G (p.Phe921Cys)
|
rs1170626086
|
|
NM_004304.5(ALK):c.4297GAG[2] (p.Glu1435del)
|
rs138827116
|
|
NM_004316.4(ASCL1):c.151CAG[7] (p.Gln58_Gln62del)
|
rs3832799
|
|
NM_004329.3(BMPR1A):c.1438C>T (p.Arg480Trp)
|
rs876658515
|
|
NM_004329.3(BMPR1A):c.233C>T (p.Thr78Ile)
|
rs1064793490
|
|
NM_004329.3(BMPR1A):c.496G>A (p.Ala166Thr)
|
rs971636078
|
|
NM_004329.3(BMPR1A):c.712C>T (p.Arg238Trp)
|
rs747728399
|
|
NM_004333.6(BRAF):c.1742A>C (p.Asn581Thr)
|
rs121913370
|
|
NM_004333.6(BRAF):c.1789C>T (p.Leu597=)
|
rs121913369
|
|
NM_004333.6(BRAF):c.1790T>C (p.Leu597Pro)
|
rs121913366
|
|
NM_004333.6(BRAF):c.1794_1796dup (p.Thr599dup)
|
rs727502902
|
|
NM_004333.6(BRAF):c.1798G>A (p.Val600Met)
|
rs121913378
|
|
NM_004333.6(BRAF):c.1798_1799delinsAA (p.Val600Lys)
|
rs121913227
|
|
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)
|
rs113488022
|
|
NM_004333.6(BRAF):c.1799T>G (p.Val600Gly)
|
rs113488022
|
|
NM_004333.6(BRAF):c.1799_1801del (p.Val600_Lys601delinsGlu)
|
rs397516897
|
|
NM_004343.4(CALR):c.1182TGAGGAGGA[3] (p.395EED[3])
|
rs550353351
|
|
NM_004360.3(CDH1):c.48+6_48+7delinsTT
|
rs786200947
|
|
NM_004360.5(CDH1):c.100G>A (p.Ala34Thr)
|
rs1486768673
|
|
NM_004360.5(CDH1):c.1170C>T (p.Asn390=)
|
rs766505270
|
|
NM_004360.5(CDH1):c.1170CGT[1] (p.Val392del)
|
rs1555515872
|
|
NM_004360.5(CDH1):c.1212del (p.Asn405fs)
|
rs1597895871
|
|
NM_004360.5(CDH1):c.1308G>A (p.Leu436=)
|
rs557551011
|
|
NM_004360.5(CDH1):c.1437T>C (p.Asp479=)
|
rs2152134915
|
|
NM_004360.5(CDH1):c.1565+1G>T
|
rs587780113
|
|
NM_004360.5(CDH1):c.1585A>G (p.Thr529Ala)
|
rs776890776
|
|
NM_004360.5(CDH1):c.1630A>G (p.Thr544Ala)
|
rs786202107
|
|
NM_004360.5(CDH1):c.1665C>T (p.His555=)
|
rs559270110
|
|
NM_004360.5(CDH1):c.1712-8T>C
|
rs1060504172
|
|
NM_004360.5(CDH1):c.1792C>T (p.Arg598Ter)
|
rs121964877
|
|
NM_004360.5(CDH1):c.2029C>T (p.Gln677Ter)
|
rs2152139412
|
|
NM_004360.5(CDH1):c.2052C>A (p.Ser684Arg)
|
rs764379691
|
|
NM_004360.5(CDH1):c.2100del (p.Val701fs)
|
rs1555517136
|
|
NM_004360.5(CDH1):c.2165-12C>G
|
rs760834250
|
|
NM_004360.5(CDH1):c.2245C>T (p.Arg749Trp)
|
rs776975632
|
|
NM_004360.5(CDH1):c.2327T>C (p.Leu776Pro)
|
rs2152142271
|
|
NM_004360.5(CDH1):c.2352T>C (p.Arg784=)
|
rs768796172
|
|
NM_004360.5(CDH1):c.2398del (p.Arg800fs)
|
rs587783048
|
|
NM_004360.5(CDH1):c.2440-2_*1del
|
rs2152143824
|
|
NM_004360.5(CDH1):c.2584T>G (p.Leu862Val)
|
rs2152144131
|
|
NM_004360.5(CDH1):c.387+13T>G
|
rs2152127104
|
|
NM_004360.5(CDH1):c.49-9C>A
|
rs1555509752
|
|
NM_004360.5(CDH1):c.677C>T (p.Ala226Val)
|
rs1555515292
|
|
NM_004360.5(CDH1):c.69G>A (p.Gln23=)
|
rs786202657
|
|
NM_004360.5(CDH1):c.832+1G>A
|
rs878854697
|
|
NM_004360.5(CDH1):c.832+9A>G
|
rs1057521268
|
|
NM_004360.5(CDH1):c.876T>C (p.Asp292=)
|
rs1055713249
|
|
NM_004360.5(CDH1):c.900C>G (p.Ile300Met)
|
rs775452740
|
|
NM_004364.5(CEBPA):c.310G>A (p.Gly104Ser)
|
rs1216191482
|
|
NM_004380.3(CREBBP):c.3739G>A (p.Glu1247Lys)
|
rs1567282647
|
|
NM_004407.4(DMP1):c.293GAG[1] (p.Gly99del)
|
rs576066727
|
|
NM_004453.4(ETFDH):c.1319A>G (p.Lys440Arg)
|
rs140132054
|
|
NM_004453.4(ETFDH):c.1726G>A (p.Gly576Arg)
|
rs760578708
|
|
NM_004525.3(LRP2):c.2207T>C (p.Val736Ala)
|
rs2105437456
|
|
NM_004525.3(LRP2):c.3605G>A (p.Gly1202Asp)
|
rs2105386678
|
|
NM_004589.4(SCO1):c.16C>G (p.Leu6Val)
|
rs61753148
|
|
NM_004608.4(TBX6):c.80G>C (p.Ser27Thr)
|
rs560107674
|
|
NM_004608.4(TBX6):c.997G>A (p.Ala333Thr)
|
rs2151031237
|
|
NM_004628.5(XPC):c.191G>C (p.Gly64Ala)
|
rs183478541
|
|
NM_004646.4(NPHS1):c.1022G>C (p.Ser341Thr)
|
rs976105039
|
|
NM_004646.4(NPHS1):c.1873G>T (p.Ala625Ser)
|
rs1973122430
|
|
NM_004646.4(NPHS1):c.791C>A (p.Pro264Gln)
|
rs34982899
|
|
NM_004655.4(AXIN2):c.731C>T (p.Ser244Leu)
|
rs199798353
|
|
NM_004693.3(KRT75):c.1649C>A (p.Thr550Lys)
|
rs201872427
|
|
NM_004698.4(PRPF3):c.1349G>A (p.Arg450Lys)
|
rs2102010005
|
|
NM_004795.4(KL):c.2296G>A (p.Gly766Ser)
|
rs114752661
|
|
NM_004795.4(KL):c.370G>A (p.Val124Ile)
|
rs1164662984
|
|
NM_004854.5(CHST10):c.483G>C (p.Lys161Asn)
|
rs2104310673
|
|
NM_004924.6(ACTN4):c.2487A>G (p.Gln829=)
|
rs950493656
|
|
NM_004958.4(MTOR):c.1224A>T (p.Thr408=)
|
rs2100938792
|
|
NM_004972.4(JAK2):c.1691G>T (p.Arg564Leu)
|
rs368927897
|
|
NM_004985.5(KRAS):c.13A>G (p.Lys5Glu)
|
rs193929331
|
|
NM_004985.5(KRAS):c.18T>C (p.Leu6=)
|
rs2135806354
|
|
NM_004985.5(KRAS):c.19G>A (p.Val7Met)
|
rs2135806349
|
|
NM_004985.5(KRAS):c.22G>A (p.Val8Ile)
|
rs2135806332
|
|
NM_004985.5(KRAS):c.30A>G (p.Gly10=)
|
rs2135806293
|
|
NM_004985.5(KRAS):c.34G>C (p.Gly12Arg)
|
rs121913530
|
|
NM_004985.5(KRAS):c.34G>T (p.Gly12Cys)
|
rs121913530
|
|
NM_004985.5(KRAS):c.35G>C (p.Gly12Ala)
|
rs121913529
|
|
NM_004985.5(KRAS):c.35G>T (p.Gly12Val)
|
rs121913529
|
|
NM_004985.5(KRAS):c.37G>C (p.Gly13Arg)
|
rs121913535
|
|
NM_004985.5(KRAS):c.37G>T (p.Gly13Cys)
|
rs121913535
|
|
NM_004985.5(KRAS):c.38G>T (p.Gly13Val)
|
rs112445441
|
|
NM_004985.5(KRAS):c.39C>T (p.Gly13=)
|
rs397517040
|
|
NM_004985.5(KRAS):c.40G>A (p.Val14Ile)
|
rs104894365
|
|
NM_004985.5(KRAS):c.45C>T (p.Gly15=)
|
rs1951663851
|
|
NM_004985.5(KRAS):c.74A>G (p.Gln25Arg)
|
rs2135805919
|
|
NM_004985.5(KRAS):c.75_80del (p.Gln25_Asn26del)
|
rs2135805870
|
|
NM_004993.6(ATXN3):c.892CAG[17] (p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGln)
|
rs193922928
|
|
NM_004993.6(ATXN3):c.892CAG[18] (p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)
|
rs193922928
|
|
NM_004993.6(ATXN3):c.892CAG[21] (p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)
|
rs193922928
|
|
NM_004993.6(ATXN3):c.915_916insCA (p.Gly306fs)
|
rs1555397062
|
|
NM_004993.6(ATXN3):c.915_916insCAGCAGCAGCAGCAGCA (p.Gly306fs)
|
rs1555397062
|
|
NM_004993.6(ATXN3):c.916_917insCAGCAGCAGCAGCAGC (p.Gly306fs)
|
rs763461489
|
|
NM_004994.3(MMP9):c.782A>G (p.Asn261Ser)
|
rs144229833
|
|
NM_005045.4(RELN):c.4623A>G (p.Ile1541Met)
|
rs1215450262
|
|
NM_005084.4(PLA2G7):c.193G>A (p.Val65Ile)
|
rs767724546
|
|
NM_005154.5(USP8):c.2658+5_2658+8dup
|
rs535741597
|
|
NM_005215.4(DCC):c.1301A>G (p.Asp434Gly)
|
rs2144397254
|
|
NM_005228.5(EGFR):c.661G>A (p.Gly221Arg)
|
rs776886714
|
|
NM_005236.3(ERCC4):c.1845G>C (p.Glu615Asp)
|
rs774347057
|
|
NM_005245.4(FAT1):c.10073T>C (p.Met3358Thr)
|
rs2126457161
|
|
NM_005245.4(FAT1):c.3349G>A (p.Val1117Met)
|
rs149295542
|
|
NM_005245.4(FAT1):c.5126C>T (p.Ala1709Val)
|
rs2126525476
|
|
NM_005245.4(FAT1):c.7225G>A (p.Val2409Met)
|
rs769335147
|
|
NM_005245.4(FAT1):c.961G>C (p.Gly321Arg)
|
rs374843828
|
|
NM_005262.3(GFER):c.280G>A (p.Asp94Asn)
|
rs1490540568
|
|
NM_005267.5(GJA8):c.530T>A (p.Ile177Asn)
|
rs2149015874
|
|
NM_005327.7(HADH):c.112A>G (p.Met38Val)
|
rs1734727324
|
|
NM_005359.6(SMAD4):c.1139+12A>G
|
rs2144448157
|
|
NM_005359.6(SMAD4):c.1148T>A (p.Ile383Lys)
|
rs377767355
|
|
NM_005359.6(SMAD4):c.1148T>C (p.Ile383Thr)
|
rs377767355
|
|
NM_005359.6(SMAD4):c.1183G>C (p.Gly395Arg)
|
rs2144451986
|
|
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs)
|
rs80338965
|
|
NM_005359.6(SMAD4):c.728_735del (p.Gly243fs)
|
rs1060500742
|
|
NM_005359.6(SMAD4):c.733C>T (p.Gln245Ter)
|
rs2144427253
|
|
NM_005359.6(SMAD4):c.746_747delinsCC (p.Gln249Pro)
|
rs587782209
|
|
NM_005373.3(MPL):c.584_585delinsGG (p.Pro195Arg)
|
rs2153916807
|
|
NM_005413.4(SIX3):c.385G>A (p.Glu129Lys)
|
rs387906867
|
|
NM_005422.4(TECTA):c.4738A>C (p.Lys1580Gln)
|
rs2135122980
|
|
NM_005432.4(XRCC3):c.74AGG[1] (p.Glu26del)
|
rs780945006
|
|
NM_005456.4(MAPK8IP1):c.236GCG[5] (p.Gly82dup)
|
rs921464364
|
|
NM_005543.4(INSL3):c.244G>A (p.Asp82Asn)
|
rs141871618
|
|
NM_005543.4(INSL3):c.380C>G (p.Thr127Ser)
|
rs2147660403
|
|
NM_005557.4(KRT16):c.175G>T (p.Gly59Trp)
|
rs765169539
|
|
NM_005591.4(MRE11):c.1808C>T (p.Thr603Ile)
|
rs1060501789
|
|
NM_005631.5(SMO):c.50_51insCCT (p.Leu23dup)
|
rs936754227
|
|
NM_005632.3(CAPN15):c.2131C>G (p.Leu711Val)
|
rs766983492
|
|
NM_005859.5(PURA):c.123_146del (p.Gly42_Gly49del)
|
rs750397204
|
|
NM_005876.5(SPEG):c.8516G>T (p.Gly2839Val)
|
rs1354555779
|
|
NM_006019.4(TCIRG1):c.1793C>G (p.Ala598Gly)
|
rs1188086312
|
|
NM_006031.6(PCNT):c.3428T>C (p.Met1143Thr)
|
rs746010044
|
|
NM_006044.4(HDAC6):c.876G>T (p.Trp292Cys)
|
rs2147359863
|
|
NM_006079.5(CITED2):c.13A>G (p.Met5Val)
|
rs1778320748
|
|
NM_006096.4(NDRG1):c.1053_1082del (p.340TRSRSHTSEG[2])
|
rs751274009
|
|
NM_006206.6(PDGFRA):c.1666_1671del (p.Glu556_Ile557del)
|
rs2110299278
|
|
NM_006206.6(PDGFRA):c.1676_1681del (p.Trp559_Val561delinsPhe)
|
rs2110299426
|
|
NM_006206.6(PDGFRA):c.1682T>A (p.Val561Asp)
|
rs121908586
|
|
NM_006206.6(PDGFRA):c.2397dup (p.Tyr800fs)
|
rs2110335874
|
|
NM_006206.6(PDGFRA):c.2504dup (p.Cys835fs)
|
rs2110337912
|
|
NM_006206.6(PDGFRA):c.2525A>T (p.Asp842Val)
|
rs121908585
|
|
NM_006206.6(PDGFRA):c.2526_2537del (p.Ile843_Asp846del)
|
rs1553906053
|
|
NM_006206.6(PDGFRA):c.2535_2543del (p.Asp846_Asn848del)
|
rs121913266
|
|
NM_006225.4(PLCD1):c.650C>A (p.Thr217Asn)
|
rs116413867
|
|
NM_006225.4(PLCD1):c.678_692del (p.Glu226_Val230del)
|
rs1238334400
|
|
NM_006231.4(POLE):c.1372T>A (p.Tyr458Asn)
|
rs879254259
|
|
NM_006231.4(POLE):c.1474-13G>A
|
rs1555228383
|
|
NM_006231.4(POLE):c.1A>G (p.Met1Val)
|
rs878854847
|
|
NM_006231.4(POLE):c.2083T>A (p.Phe695Ile)
|
rs5744799
|
|
NM_006231.4(POLE):c.2089C>T (p.Pro697Ser)
|
rs5744800
|
|
NM_006231.4(POLE):c.2090C>G (p.Pro697Arg)
|
rs36120395
|
|
NM_006231.4(POLE):c.2270C>T (p.Thr757Ile)
|
rs1565964638
|
|
NM_006231.4(POLE):c.2865-5_2865-4del
|
rs369732588
|
|
NM_006231.4(POLE):c.2865-6_2865-4del
|
rs369732588
|
|
NM_006231.4(POLE):c.3421A>G (p.Ile1141Val)
|
rs939889253
|
|
NM_006231.4(POLE):c.4375G>T (p.Glu1459Ter)
|
rs778238908
|
|
NM_006231.4(POLE):c.43G>C (p.Ala15Pro)
|
rs1060500788
|
|
NM_006231.4(POLE):c.4552-10G>T
|
rs5744946
|
|
NM_006231.4(POLE):c.4635C>T (p.Leu1545=)
|
rs199945393
|
|
NM_006231.4(POLE):c.4729-11C>T
|
rs1555222633
|
|
NM_006231.4(POLE):c.5147T>G (p.Ile1716Ser)
|
rs2042160664
|
|
NM_006231.4(POLE):c.5378+1G>A
|
rs747165215
|
|
NM_006231.4(POLE):c.5570A>G (p.Lys1857Arg)
|
rs5744971
|
|
NM_006231.4(POLE):c.579-2A>G
|
rs2043088809
|
|
NM_006231.4(POLE):c.6028T>C (p.Cys2010Arg)
|
rs1593709200
|
|
NM_006231.4(POLE):c.605C>T (p.Thr202Ile)
|
rs1432402314
|
|
NM_006231.4(POLE):c.6747+1G>A
|
rs2138422722
|
|
NM_006245.4(PPP2R5D):c.1568G>A (p.Arg523Gln)
|
rs1762321025
|
|
NM_006258.4(PRKG1):c.815C>A (p.Thr272Asn)
|
rs2133254714
|
|
NM_006343.3(MERTK):c.163C>A (p.His55Asn)
|
rs754922274
|
|
NM_006351.4(TIMM44):c.1136T>C (p.Met379Thr)
|
rs1453014028
|
|
NM_006441.4(MTHFS):c.104T>C (p.Val35Ala)
|
rs2141385090
|
|
NM_006556.4(PMVK):c.95+166T>C
|
rs2101975113
|
|
NM_006662.3(SRCAP):c.1614C>G (p.Ser538Arg)
|
rs374756213
|
|
NM_006727.5(CDH10):c.1885G>A (p.Val629Ile)
|
rs2111613494
|
|
NM_006767.4(LZTR1):c.2381A>C (p.His794Pro)
|
rs2147970584
|
|
NM_006859.4(LIAS):c.715del (p.Glu239fs)
|
rs1560669563
|
|
NM_006922.4(SCN3A):c.774G>C (p.Leu258=)
|
rs762025399
|
|
NM_006946.4(SPTBN2):c.190A>G (p.Thr64Ala)
|
rs769557138
|
|
NM_006946.4(SPTBN2):c.6580A>G (p.Met2194Val)
|
rs2135301519
|
|
NM_006947.4(SRP72):c.20G>C (p.Gly7Ala)
|
rs139502866
|
|
NM_007118.4(TRIO):c.3991C>T (p.Pro1331Ser)
|
rs866249802
|
|
NM_007118.4(TRIO):c.6560G>A (p.Arg2187His)
|
rs1177557321
|
|
NM_007194.4(CHEK2):c.1003G>C (p.Val335Leu)
|
rs563752762
|
|
NM_007194.4(CHEK2):c.1009-100_1095+3del
|
rs2145815434
|
|
NM_007194.4(CHEK2):c.1147A>G (p.Thr383Ala)
|
rs769439021
|
|
NM_007194.4(CHEK2):c.1205_1206delinsTC (p.Ala402Val)
|
rs1555913720
|
|
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys)
|
rs587782527
|
|
NM_007194.4(CHEK2):c.1263del (p.Ser422fs)
|
rs587780174
|
|
NM_007194.4(CHEK2):c.1324del (p.Ser442fs)
|
rs2145794195
|
|
NM_007194.4(CHEK2):c.1340T>G (p.Phe447Cys)
|
rs876660373
|
|
NM_007194.4(CHEK2):c.1462-1_1542+2del
|
rs2145747944
|
|
NM_007194.4(CHEK2):c.1476_1480del (p.Arg493fs)
|
rs2145750415
|
|
NM_007194.4(CHEK2):c.1530G>C (p.Gln510His)
|
rs1569104011
|
|
NM_007194.4(CHEK2):c.219_223del (p.Ser73_Ile74insTer)
|
rs766416564
|
|
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1])
|
rs587780181
|
|
NM_007194.4(CHEK2):c.258G>A (p.Glu86=)
|
rs1201436179
|
|
NM_007194.4(CHEK2):c.277T>C (p.Trp93Arg)
|
rs730881697
|
|
NM_007194.4(CHEK2):c.320-1G>T
|
rs864622613
|
|
NM_007194.4(CHEK2):c.422A>C (p.Lys141Thr)
|
rs786203192
|
|
NM_007194.4(CHEK2):c.438_592+3del
|
rs2146056182
|
|
NM_007194.4(CHEK2):c.462C>G (p.Asn154Lys)
|
rs564924749
|
|
NM_007194.4(CHEK2):c.470T>G (p.Ile157Ser)
|
rs17879961
|
|
NM_007194.4(CHEK2):c.471T>C (p.Ile157=)
|
rs374170772
|
|
NM_007194.4(CHEK2):c.478del (p.Tyr159_Ile160insTer)
|
rs1225437533
|
|
NM_007194.4(CHEK2):c.479T>C (p.Ile160Thr)
|
rs72552323
|
|
NM_007194.4(CHEK2):c.512A>G (p.Asn171Ser)
|
rs2146059474
|
|
NM_007194.4(CHEK2):c.533G>A (p.Gly178Glu)
|
rs864622691
|
|
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter)
|
rs536907995
|
|
NM_007194.4(CHEK2):c.591del (p.Val198fs)
|
rs587782245
|
|
NM_007194.4(CHEK2):c.613A>T (p.Thr205Ser)
|
rs587780187
|
|
NM_007194.4(CHEK2):c.683+1G>T
|
rs786203650
|
|
NM_007194.4(CHEK2):c.683+2T>C
|
rs781021132
|
|
NM_007194.4(CHEK2):c.717G>C (p.Glu239Asp)
|
rs1555921253
|
|
NM_007194.4(CHEK2):c.742A>G (p.Ile248Val)
|
rs779457035
|
|
NM_007194.4(CHEK2):c.765G>T (p.Lys255Asn)
|
rs750596640
|
|
NM_007194.4(CHEK2):c.793-110_846+2del
|
rs2145932387
|
|
NM_007194.4(CHEK2):c.817_818del (p.Glu273fs)
|
rs1474786480
|
|
NM_007194.4(CHEK2):c.880G>A (p.Ala294Thr)
|
rs2145877658
|
|
NM_007194.4(CHEK2):c.882AGA[1] (p.Glu295del)
|
rs771860071
|
|
NM_007194.4(CHEK2):c.896T>A (p.Ile299Asn)
|
rs876659870
|
|
NM_007194.4(CHEK2):c.8G>T (p.Arg3Leu)
|
rs779607427
|
|
NM_007218.4(RNF139):c.1928G>C (p.Arg643Thr)
|
rs1563633256
|
|
NM_007279.3(U2AF2):c.231-2_235del
|
rs745549350
|
|
NM_007294.3(BRCA1):c.135-?_441+?del
|
|
|
NM_007294.3(BRCA1):c.4186-?_4357+?dup172
|
|
|
NM_007294.3(BRCA1):c.4186-?_5193+?del
|
|
|
NM_007294.3(BRCA1):c.4358-?_5277+?del
|
|
|
NM_007294.3(BRCA1):c.5075-?_5193+?del
|
|
|
NM_007294.3(BRCA1):c.548-?_593+?dup
|
|
|
NM_007294.3(BRCA1):c.81-?_134+?del
|
|
|
NM_007294.4(BRCA1):c.-42T>G
|
rs544342552
|
|
NM_007294.4(BRCA1):c.-9C>G
|
rs1555601059
|
|
NM_007294.4(BRCA1):c.1016del (p.Lys339fs)
|
rs80357569
|
|
NM_007294.4(BRCA1):c.1016dup (p.Val340fs)
|
rs80357569
|
|
NM_007294.4(BRCA1):c.1100del (p.Thr367fs)
|
rs2154476126
|
|
NM_007294.4(BRCA1):c.1106_1108del (p.Asp369del)
|
rs80358325
|
|
NM_007294.4(BRCA1):c.1113T>G (p.Pro371=)
|
rs876658619
|
|
NM_007294.4(BRCA1):c.1175_1214del (p.Leu392fs)
|
rs80359874
|
|
NM_007294.4(BRCA1):c.1204del (p.Glu402fs)
|
rs80357859
|
|
NM_007294.4(BRCA1):c.1222A>G (p.Lys408Glu)
|
rs80357253
|
|
NM_007294.4(BRCA1):c.1240G>T (p.Asp414Tyr)
|
rs2154464961
|
|
NM_007294.4(BRCA1):c.1253A>C (p.Glu418Ala)
|
rs1555592050
|
|
NM_007294.4(BRCA1):c.1255G>C (p.Val419Leu)
|
rs876658873
|
|
NM_007294.4(BRCA1):c.1297del (p.Ala433fs)
|
rs80357794
|
|
NM_007294.4(BRCA1):c.1310_1313del (p.His437fs)
|
rs1555591959
|
|
NM_007294.4(BRCA1):c.1325_1326dup (p.Lys443fs)
|
rs80357543
|
|
NM_007294.4(BRCA1):c.134+3A>G
|
rs80358064
|
|
NM_007294.4(BRCA1):c.134A>G (p.Lys45Arg)
|
rs80356863
|
|
NM_007294.4(BRCA1):c.135-2A>G
|
rs80358065
|
|
NM_007294.4(BRCA1):c.1360_1361del (p.Glu453_Ser454insTer)
|
rs80357969
|
|
NM_007294.4(BRCA1):c.1387A>G (p.Lys463Glu)
|
rs1135401844
|
|
NM_007294.4(BRCA1):c.1387_1390delinsGAAAG (p.Lys463fs)
|
rs80357770
|
|
NM_007294.4(BRCA1):c.1390_1391insG (p.Thr464fs)
|
rs397508867
|
|
NM_007294.4(BRCA1):c.1396C>G (p.Arg466Gly)
|
rs80356964
|
|
NM_007294.4(BRCA1):c.1405G>A (p.Ala469Thr)
|
rs397507187
|
|
NM_007294.4(BRCA1):c.140G>A (p.Cys47Tyr)
|
rs80357150
|
|
NM_007294.4(BRCA1):c.1418A>G (p.Asn473Ser)
|
rs80357057
|
|
NM_007294.4(BRCA1):c.1431A>G (p.Val477=)
|
rs2154446463
|
|
NM_007294.4(BRCA1):c.1439dup (p.Asn480fs)
|
rs80357505
|
|
NM_007294.4(BRCA1):c.1441C>G (p.Leu481Val)
|
rs1397842308
|
|
NM_007294.4(BRCA1):c.1471C>T (p.Gln491Ter)
|
rs62625303
|
|
NM_007294.4(BRCA1):c.1499del (p.Asn500fs)
|
rs397508874
|
|
NM_007294.4(BRCA1):c.1504_1508del (p.Leu502fs)
|
rs80357888
|
|
NM_007294.4(BRCA1):c.1505_1509del (p.Leu502fs)
|
rs876659139
|
|
NM_007294.4(BRCA1):c.1508del (p.Lys503fs)
|
rs80357506
|
|
NM_007294.4(BRCA1):c.1510del (p.Arg504fs)
|
rs80357908
|
|
NM_007294.4(BRCA1):c.152T>C (p.Leu51Pro)
|
rs1555597285
|
|
NM_007294.4(BRCA1):c.1556del (p.Lys519fs)
|
rs80357662
|
|
NM_007294.4(BRCA1):c.1596A>T (p.Ile532=)
|
rs1555591508
|
|
NM_007294.4(BRCA1):c.1603G>T (p.Gly535Ter)
|
rs1555591488
|
|
NM_007294.4(BRCA1):c.164A>G (p.Lys55Arg)
|
rs2054786724
|
|
NM_007294.4(BRCA1):c.1674del (p.Gly559fs)
|
rs80357600
|
|
NM_007294.4(BRCA1):c.1700dup (p.Asn567fs)
|
rs80357784
|
|
NM_007294.4(BRCA1):c.1703C>T (p.Pro568Leu)
|
rs80356910
|
|
NM_007294.4(BRCA1):c.1729G>T (p.Glu577Ter)
|
rs397508903
|
|
NM_007294.4(BRCA1):c.1771A>G (p.Ile591Val)
|
rs1064795358
|
|
NM_007294.4(BRCA1):c.1775G>A (p.Ser592Asn)
|
rs786203044
|
|
NM_007294.4(BRCA1):c.1824_1826del (p.Lys608del)
|
rs587781614
|
|
NM_007294.4(BRCA1):c.182G>A (p.Cys61Tyr)
|
rs80357093
|
|
NM_007294.4(BRCA1):c.1843TCT[1] (p.Ser616del)
|
rs80358329
|
|
NM_007294.4(BRCA1):c.1848_1861del (p.Thr617fs)
|
rs2154416271
|
|
NM_007294.4(BRCA1):c.1850C>A (p.Thr617Asn)
|
rs2154417111
|
|
NM_007294.4(BRCA1):c.1863T>C (p.His621=)
|
rs786201460
|
|
NM_007294.4(BRCA1):c.1953_1956del (p.Lys653fs)
|
rs80357526
|
|
NM_007294.4(BRCA1):c.1954A>G (p.Lys652Glu)
|
rs1567797589
|
|
NM_007294.4(BRCA1):c.1961del (p.Lys654fs)
|
rs80357522
|
|
NM_007294.4(BRCA1):c.1961dup (p.Tyr655fs)
|
rs80357522
|
|
NM_007294.4(BRCA1):c.1994del (p.Asn665fs)
|
rs1555590714
|
|
NM_007294.4(BRCA1):c.1A>G (p.Met1Val)
|
rs80357287
|
|
NM_007294.4(BRCA1):c.2035A>T (p.Lys679Ter)
|
rs80357082
|
|
NM_007294.4(BRCA1):c.203T>C (p.Ile68Thr)
|
rs80357116
|
|
NM_007294.4(BRCA1):c.2059C>T (p.Gln687Ter)
|
rs273898674
|
|
NM_007294.4(BRCA1):c.2071del (p.Arg691fs)
|
rs80357688
|
|
NM_007294.4(BRCA1):c.2083G>T (p.Asp695Tyr)
|
rs28897681
|
|
NM_007294.4(BRCA1):c.2102_2103del (p.Lys701fs)
|
rs2154399258
|
|
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly)
|
rs80357382
|
|
NM_007294.4(BRCA1):c.212+10T>G
|
rs80358174
|
|
NM_007294.4(BRCA1):c.212+1G>T
|
rs80358042
|
|
NM_007294.4(BRCA1):c.212G>A (p.Arg71Lys)
|
rs80356913
|
|
NM_007294.4(BRCA1):c.213-12A>G
|
rs80358163
|
|
NM_007294.4(BRCA1):c.213-1_301+2del
|
rs2154551459
|
|
NM_007294.4(BRCA1):c.2188G>T (p.Glu730Ter)
|
rs80357058
|
|
NM_007294.4(BRCA1):c.2214dup (p.Lys739Ter)
|
rs80357574
|
|
NM_007294.4(BRCA1):c.2215A>C (p.Lys739Gln)
|
rs56329598
|
|
NM_007294.4(BRCA1):c.2232T>C (p.Ala744=)
|
rs4986846
|
|
NM_007294.4(BRCA1):c.2241del (p.Asp749fs)
|
rs80357650
|
|
NM_007294.4(BRCA1):c.2263G>T (p.Glu755Ter)
|
rs41286296
|
|
NM_007294.4(BRCA1):c.2263del (p.Glu755fs)
|
rs80357960
|
|
NM_007294.4(BRCA1):c.2269del (p.Val757fs)
|
rs80357583
|
|
NM_007294.4(BRCA1):c.2338C>T (p.Gln780Ter)
|
rs80356945
|
|
NM_007294.4(BRCA1):c.2365del (p.Ser789fs)
|
rs2154381368
|
|
NM_007294.4(BRCA1):c.2389G>T (p.Glu797Ter)
|
rs62625306
|
|
NM_007294.4(BRCA1):c.2411_2412del (p.Gln804fs)
|
rs80357664
|
|
NM_007294.4(BRCA1):c.241C>T (p.Gln81Ter)
|
rs80357350
|
|
NM_007294.4(BRCA1):c.2426A>G (p.Glu809Gly)
|
rs397507201
|
|
NM_007294.4(BRCA1):c.2433C>T (p.Pro811=)
|
rs1555589666
|
|
NM_007294.4(BRCA1):c.2433del (p.Lys812fs)
|
rs80357524
|
|
NM_007294.4(BRCA1):c.2489_2492del (p.Lys830fs)
|
rs886040043
|
|
NM_007294.4(BRCA1):c.2567A>G (p.Tyr856Cys)
|
rs864622122
|
|
NM_007294.4(BRCA1):c.2612C>T (p.Pro871Leu)
|
rs799917
|
|
NM_007294.4(BRCA1):c.2649A>C (p.Ala883=)
|
rs2154366693
|
|
NM_007294.4(BRCA1):c.2668G>A (p.Gly890Arg)
|
rs80357200
|
|
NM_007294.4(BRCA1):c.2681_2682del (p.Lys894fs)
|
rs80357971
|
|
NM_007294.4(BRCA1):c.2685_2686del (p.Pro897fs)
|
rs80357636
|
|
NM_007294.4(BRCA1):c.269_281del (p.Ile90fs)
|
rs80359879
|
|
NM_007294.4(BRCA1):c.2710G>T (p.Glu904Ter)
|
rs80357035
|
|
NM_007294.4(BRCA1):c.2712A>G (p.Glu904=)
|
rs1057522242
|
|
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter)
|
rs80356978
|
|
NM_007294.4(BRCA1):c.2762A>G (p.Gln921Arg)
|
rs1555588991
|
|
NM_007294.4(BRCA1):c.2766del (p.Val923fs)
|
rs80357812
|
|
NM_007294.4(BRCA1):c.2800C>T (p.Gln934Ter)
|
rs80357223
|
|
NM_007294.4(BRCA1):c.2827A>T (p.Lys943Ter)
|
rs2154357524
|
|
NM_007294.4(BRCA1):c.2834_2836delinsC (p.Ser945fs)
|
rs386134270
|
|
NM_007294.4(BRCA1):c.2836_2837del (p.Ile946fs)
|
rs397509016
|
|
NM_007294.4(BRCA1):c.2934T>G (p.Tyr978Ter)
|
rs80357115
|
|
NM_007294.4(BRCA1):c.2998_3003del (p.Glu1000_Glu1001del)
|
rs80358333
|
|
NM_007294.4(BRCA1):c.2_80+4del
|
rs2154576469
|
|
NM_007294.4(BRCA1):c.3005del (p.Asn1002fs)
|
rs80357601
|
|
NM_007294.4(BRCA1):c.3007_3011del (p.Phe1003fs)
|
rs2154347474
|
|
NM_007294.4(BRCA1):c.302-167_441+3del
|
rs2154548547
|
|
NM_007294.4(BRCA1):c.3037G>A (p.Glu1013Lys)
|
rs1555588500
|
|
NM_007294.4(BRCA1):c.3048_3052dup (p.Asn1018fs)
|
rs80357856
|
|
NM_007294.4(BRCA1):c.305C>G (p.Ala102Gly)
|
rs80357190
|
|
NM_007294.4(BRCA1):c.3076A>G (p.Ile1026Val)
|
rs1468925322
|
|
NM_007294.4(BRCA1):c.3078T>G (p.Ile1026Met)
|
rs1555588422
|
|
NM_007294.4(BRCA1):c.3113A>C (p.Glu1038Ala)
|
rs16941
|
|
NM_007294.4(BRCA1):c.312C>A (p.Ser104Arg)
|
rs766484283
|
|
NM_007294.4(BRCA1):c.3178G>T (p.Glu1060Ter)
|
rs80357424
|
|
NM_007294.4(BRCA1):c.3179A>C (p.Glu1060Ala)
|
rs80357184
|
|
NM_007294.4(BRCA1):c.3185G>T (p.Gly1062Val)
|
rs397507211
|
|
NM_007294.4(BRCA1):c.3209C>G (p.Ala1070Gly)
|
rs397507212
|
|
NM_007294.4(BRCA1):c.3225_3226del (p.Asn1075fs)
|
rs2154335955
|
|
NM_007294.4(BRCA1):c.3247A>G (p.Met1083Val)
|
rs397507213
|
|
NM_007294.4(BRCA1):c.3247_3251del (p.Ala1082_Met1083insTer)
|
rs1135401859
|
|
NM_007294.4(BRCA1):c.3254_3255dup (p.Leu1086fs)
|
rs80357624
|
|
NM_007294.4(BRCA1):c.3279del (p.Tyr1094fs)
|
rs397509050
|
|
NM_007294.4(BRCA1):c.3286C>T (p.Gln1096Ter)
|
rs80357485
|
|
NM_007294.4(BRCA1):c.3328_3330del (p.Lys1110del)
|
rs80358335
|
|
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs)
|
rs80357701
|
|
NM_007294.4(BRCA1):c.3333del (p.Glu1112fs)
|
rs80357966
|
|
NM_007294.4(BRCA1):c.3334del (p.Glu1112fs)
|
rs1555587944
|
|
NM_007294.4(BRCA1):c.3358_3359del (p.Thr1119_Val1120insTer)
|
rs80357945
|
|
NM_007294.4(BRCA1):c.3374C>A (p.Ser1125Tyr)
|
rs1555587835
|
|
NM_007294.4(BRCA1):c.3415AGT[1] (p.Ser1140del)
|
rs80358337
|
|
NM_007294.4(BRCA1):c.3433G>T (p.Val1145Phe)
|
rs431825396
|
|
NM_007294.4(BRCA1):c.3436_3439del (p.Cys1146fs)
|
rs397509067
|
|
NM_007294.4(BRCA1):c.3437G>C (p.Cys1146Ser)
|
rs80357247
|
|
NM_007294.4(BRCA1):c.3476del (p.Ile1159fs)
|
rs2154311311
|
|
NM_007294.4(BRCA1):c.3481_3491del (p.Glu1161fs)
|
rs80357877
|
|
NM_007294.4(BRCA1):c.3555G>T (p.Glu1185Asp)
|
rs587779368
|
|
NM_007294.4(BRCA1):c.3563G>T (p.Arg1188Met)
|
rs2154303009
|
|
NM_007294.4(BRCA1):c.3600G>C (p.Gln1200His)
|
rs56214134
|
|
NM_007294.4(BRCA1):c.3600G>T (p.Gln1200His)
|
rs56214134
|
|
NM_007294.4(BRCA1):c.3620A>T (p.Lys1207Met)
|
rs1555587402
|
|
NM_007294.4(BRCA1):c.3626T>G (p.Leu1209Ter)
|
rs786203884
|
|
NM_007294.4(BRCA1):c.3635C>T (p.Ser1212Leu)
|
rs886038021
|
|
NM_007294.4(BRCA1):c.3648dup (p.Ser1217fs)
|
rs80357902
|
|
NM_007294.4(BRCA1):c.3661G>T (p.Glu1221Ter)
|
rs80357310
|
|
NM_007294.4(BRCA1):c.3668_3671dup (p.Cys1225fs)
|
rs80357797
|
|
NM_007294.4(BRCA1):c.3700_3704del (p.Val1234fs)
|
rs80357609
|
|
NM_007294.4(BRCA1):c.3737C>A (p.Thr1246Asn)
|
rs878854949
|
|
NM_007294.4(BRCA1):c.3748G>T (p.Glu1250Ter)
|
rs28897686
|
|
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs)
|
rs80357868
|
|
NM_007294.4(BRCA1):c.3770_3771del (p.Glu1257fs)
|
rs80357579
|
|
NM_007294.4(BRCA1):c.3776A>C (p.Asn1259Thr)
|
rs483353090
|
|
NM_007294.4(BRCA1):c.3809G>A (p.Cys1270Tyr)
|
rs1207787135
|
|
NM_007294.4(BRCA1):c.3817C>T (p.Gln1273Ter)
|
rs80357208
|
|
NM_007294.4(BRCA1):c.3820del (p.Gln1273_Val1274insTer)
|
rs80357616
|
|
NM_007294.4(BRCA1):c.3833del (p.Lys1278fs)
|
rs1135401868
|
|
NM_007294.4(BRCA1):c.3841C>T (p.Gln1281Ter)
|
rs80356866
|
|
NM_007294.4(BRCA1):c.3878C>T (p.Ala1293Val)
|
rs80357213
|
|
NM_007294.4(BRCA1):c.390C>A (p.Tyr130Ter)
|
rs80356888
|
|
NM_007294.4(BRCA1):c.3914dup (p.Asp1305fs)
|
rs2154277394
|
|
NM_007294.4(BRCA1):c.3955G>A (p.Gly1319Ser)
|
rs431825403
|
|
NM_007294.4(BRCA1):c.3967C>T (p.Gln1323Ter)
|
rs80357262
|
|
NM_007294.4(BRCA1):c.3G>A (p.Met1Ile)
|
rs80357475
|
|
NM_007294.4(BRCA1):c.3G>T (p.Met1Ile)
|
rs80357475
|
|
NM_007294.4(BRCA1):c.4035del (p.Glu1346fs)
|
rs80357711
|
|
NM_007294.4(BRCA1):c.4036del (p.Glu1346fs)
|
rs886040189
|
|
NM_007294.4(BRCA1):c.4041_4042del (p.Gly1348fs)
|
rs80357727
|
|
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs)
|
rs80357508
|
|
NM_007294.4(BRCA1):c.4083G>A (p.Met1361Ile)
|
rs374192364
|
|
NM_007294.4(BRCA1):c.4088C>T (p.Ser1363Leu)
|
rs398122680
|
|
NM_007294.4(BRCA1):c.4096+3A>G
|
rs80358015
|
|
NM_007294.4(BRCA1):c.4117G>T (p.Glu1373Ter)
|
rs80357259
|
|
NM_007294.4(BRCA1):c.4120_4121del (p.Glu1373_Ser1374insTer)
|
rs80357787
|
|
NM_007294.4(BRCA1):c.413T>C (p.Leu138Pro)
|
rs200449040
|
|
NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter)
|
rs80357260
|
|
NM_007294.4(BRCA1):c.4185+14G>C
|
rs762153716
|
|
NM_007294.4(BRCA1):c.4185G>A (p.Gln1395=)
|
rs80356857
|
|
NM_007294.4(BRCA1):c.4186-1G>T
|
rs397509150
|
|
NM_007294.4(BRCA1):c.4255G>C (p.Glu1419Gln)
|
rs80357309
|
|
NM_007294.4(BRCA1):c.427G>T (p.Glu143Ter)
|
rs80356991
|
|
NM_007294.4(BRCA1):c.4294A>G (p.Ile1432Val)
|
rs80357157
|
|
NM_007294.4(BRCA1):c.4318G>C (p.Glu1440Gln)
|
rs1555584070
|
|
NM_007294.4(BRCA1):c.431del (p.Asn144fs)
|
rs397509162
|
|
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter)
|
rs41293455
|
|
NM_007294.4(BRCA1):c.4335_4338dup (p.Gln1447fs)
|
rs397509164
|
|
NM_007294.4(BRCA1):c.4357+4T>C
|
rs1555583978
|
|
NM_007294.4(BRCA1):c.4358-1_4484+2del
|
rs2154056714
|
|
NM_007294.4(BRCA1):c.4360G>A (p.Val1454Ile)
|
rs1555582714
|
|
NM_007294.4(BRCA1):c.436T>C (p.Ser146Pro)
|
rs1555596290
|
|
NM_007294.4(BRCA1):c.4372C>T (p.Gln1458Ter)
|
rs80356932
|
|
NM_007294.4(BRCA1):c.4385A>G (p.Glu1462Gly)
|
rs1567779859
|
|
NM_007294.4(BRCA1):c.4391del (p.Pro1464fs)
|
rs80357916
|
|
NM_007294.4(BRCA1):c.4393A>C (p.Ile1465Leu)
|
rs1567779778
|
|
NM_007294.4(BRCA1):c.4399C>T (p.Gln1467Ter)
|
rs397509171
|
|
NM_007294.4(BRCA1):c.441+18CTT[6]
|
rs147856441
|
|
NM_007294.4(BRCA1):c.441+6_441+49del
|
rs2154548237
|
|
NM_007294.4(BRCA1):c.4416_4417del (p.Ser1473fs)
|
rs886040231
|
|
NM_007294.4(BRCA1):c.442-1_547+2del
|
rs2154527880
|
|
NM_007294.4(BRCA1):c.4484+1G>A
|
rs80358063
|
|
NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys)
|
rs80357389
|
|
NM_007294.4(BRCA1):c.4484G>T (p.Arg1495Met)
|
rs80357389
|
|
NM_007294.4(BRCA1):c.4485-10_4491del
|
rs2154024242
|
|
NM_007294.4(BRCA1):c.4485-1_4675+2del
|
rs2153986410
|
|
NM_007294.4(BRCA1):c.4485-2A>T
|
rs80358054
|
|
NM_007294.4(BRCA1):c.4487_4675+2del
|
rs1555581778
|
|
NM_007294.4(BRCA1):c.4493del (p.Pro1498fs)
|
rs398122687
|
|
NM_007294.4(BRCA1):c.4516del (p.Asp1506fs)
|
rs273900736
|
|
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter)
|
rs80356885
|
|
NM_007294.4(BRCA1):c.4532A>G (p.His1511Arg)
|
rs1555582004
|
|
NM_007294.4(BRCA1):c.4533C>T (p.His1511=)
|
rs1567778195
|
|
NM_007294.4(BRCA1):c.4574_4575del (p.Gln1525fs)
|
rs80357813
|
|
NM_007294.4(BRCA1):c.457A>G (p.Ser153Gly)
|
rs28897674
|
|
NM_007294.4(BRCA1):c.4595T>C (p.Val1532Ala)
|
rs2052601019
|
|
NM_007294.4(BRCA1):c.4609C>T (p.Gln1537Ter)
|
rs80357229
|
|
NM_007294.4(BRCA1):c.4625_4626del (p.Ser1542fs)
|
rs80357542
|
|
NM_007294.4(BRCA1):c.4634A>G (p.His1545Arg)
|
rs1597835935
|
|
NM_007294.4(BRCA1):c.4654T>C (p.Tyr1552His)
|
rs1265352633
|
|
NM_007294.4(BRCA1):c.4665G>A (p.Arg1555=)
|
rs878854952
|
|
NM_007294.4(BRCA1):c.4666C>T (p.Gln1556Ter)
|
rs1555581812
|
|
NM_007294.4(BRCA1):c.4675+3A>G
|
rs80358082
|
|
NM_007294.4(BRCA1):c.4773C>T (p.Gly1591=)
|
rs2153860804
|
|
NM_007294.4(BRCA1):c.477T>C (p.Leu159=)
|
rs779704727
|
|
NM_007294.4(BRCA1):c.4803del (p.Val1602fs)
|
rs1555580912
|
|
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly)
|
rs1799966
|
|
NM_007294.4(BRCA1):c.4837A>T (p.Ser1613Cys)
|
rs1799966
|
|
NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly)
|
rs80356862
|
|
NM_007294.4(BRCA1):c.4889A>G (p.Glu1630Gly)
|
rs2153824237
|
|
NM_007294.4(BRCA1):c.4903del (p.Glu1635fs)
|
rs1555580697
|
|
NM_007294.4(BRCA1):c.4935G>C (p.Arg1645Ser)
|
rs80357373
|
|
NM_007294.4(BRCA1):c.4948_4966del (p.Met1650fs)
|
rs2153808038
|
|
NM_007294.4(BRCA1):c.4963T>C (p.Ser1655Pro)
|
rs1057518639
|
|
NM_007294.4(BRCA1):c.4964_4982del (p.Ser1655fs)
|
rs80359876
|
|
NM_007294.4(BRCA1):c.4986+3G>C
|
rs80358023
|
|
NM_007294.4(BRCA1):c.4986+4A>T
|
rs80358087
|
|
NM_007294.4(BRCA1):c.4986+6T>G
|
rs80358086
|
|
NM_007294.4(BRCA1):c.4987-1331_5152+2del
|
|
|
NM_007294.4(BRCA1):c.4987-2A>G
|
rs397509212
|
|
NM_007294.4(BRCA1):c.4987-70G>A
|
rs1014146864
|
|
NM_007294.4(BRCA1):c.4997dup (p.Tyr1666Ter)
|
rs876658947
|
|
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs)
|
rs80357580
|
|
NM_007294.4(BRCA1):c.5035del (p.Asn1678_Leu1679insTer)
|
rs80357896
|
|
NM_007294.4(BRCA1):c.5059GTT[1] (p.Val1688del)
|
rs80358344
|
|
NM_007294.4(BRCA1):c.505C>T (p.Gln169Ter)
|
rs80357133
|
|
NM_007294.4(BRCA1):c.5060T>G (p.Val1687Gly)
|
rs1555579627
|
|
NM_007294.4(BRCA1):c.5074+124T>G
|
rs1202451641
|
|
NM_007294.4(BRCA1):c.5074+1G>A
|
rs80358053
|
|
NM_007294.4(BRCA1):c.5074+2T>C
|
rs80358089
|
|
NM_007294.4(BRCA1):c.5075-2A>C
|
rs80358066
|
|
NM_007294.4(BRCA1):c.5075-390_5193+2del
|
|
|
NM_007294.4(BRCA1):c.5075A>C (p.Asp1692Ala)
|
rs397509222
|
|
NM_007294.4(BRCA1):c.5075_5152del (p.Asp1692_Trp1718delinsGly)
|
rs1555578539
|
|
NM_007294.4(BRCA1):c.5089T>C (p.Cys1697Arg)
|
rs80356993
|
|
NM_007294.4(BRCA1):c.5090G>A (p.Cys1697Tyr)
|
rs397507241
|
|
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp)
|
rs55770810
|
|
NM_007294.4(BRCA1):c.5102_5103del (p.Leu1701fs)
|
rs80357608
|
|
NM_007294.4(BRCA1):c.5103G>A (p.Leu1701=)
|
rs1060504591
|
|
NM_007294.4(BRCA1):c.5106del (p.Lys1702fs)
|
rs80357553
|
|
NM_007294.4(BRCA1):c.5116G>A (p.Gly1706Arg)
|
rs886040864
|
|
NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu)
|
rs28897696
|
|
NM_007294.4(BRCA1):c.5137del (p.Trp1712_Val1713insTer)
|
rs80357997
|
|
NM_007294.4(BRCA1):c.5138T>A (p.Val1713Glu)
|
rs80357132
|
|
NM_007294.4(BRCA1):c.5141_5144del (p.Val1714fs)
|
rs2153585533
|
|
NM_007294.4(BRCA1):c.5144G>A (p.Ser1715Asn)
|
rs45444999
|
|
NM_007294.4(BRCA1):c.5152+85del
|
rs8176259
|
|
NM_007294.4(BRCA1):c.5153-77_5193+4del
|
rs2153552671
|
|
NM_007294.4(BRCA1):c.5154G>A (p.Trp1718Ter)
|
rs80357239
|
|
NM_007294.4(BRCA1):c.5156_5157del (p.Val1719fs)
|
rs80357895
|
|
NM_007294.4(BRCA1):c.515A>G (p.Gln172Arg)
|
rs1555594863
|
|
NM_007294.4(BRCA1):c.5161C>T (p.Gln1721Ter)
|
rs878854957
|
|
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe)
|
rs80357104
|
|
NM_007294.4(BRCA1):c.516del (p.Gln172fs)
|
rs879254223
|
|
NM_007294.4(BRCA1):c.5193+1G>T
|
rs80358004
|
|
NM_007294.4(BRCA1):c.5194-119_5277+3del
|
rs2153352800
|
|
NM_007294.4(BRCA1):c.5194-1_5277+2del
|
rs2153353204
|
|
NM_007294.4(BRCA1):c.5194-2A>G
|
rs80358069
|
|
NM_007294.4(BRCA1):c.5194-42_5277+2del
|
rs2153353304
|
|
NM_007294.4(BRCA1):c.5194-4T>C
|
rs1057524456
|
|
NM_007294.4(BRCA1):c.5194-836_5277+3del
|
rs2153352893
|
|
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala)
|
rs45553935
|
|
NM_007294.4(BRCA1):c.5209A>T (p.Arg1737Ter)
|
rs80357496
|
|
NM_007294.4(BRCA1):c.5216A>G (p.Asp1739Gly)
|
rs80357227
|
|
NM_007294.4(BRCA1):c.5236C>T (p.His1746Tyr)
|
rs80357146
|
|
NM_007294.4(BRCA1):c.5239C>T (p.Gln1747Ter)
|
rs80357367
|
|
NM_007294.4(BRCA1):c.5243G>A (p.Gly1748Asp)
|
rs397509243
|
|
NM_007294.4(BRCA1):c.5251C>A (p.Arg1751=)
|
rs80357123
|
|
NM_007294.4(BRCA1):c.5251C>G (p.Arg1751Gly)
|
rs80357123
|
|
NM_007294.4(BRCA1):c.5266C>T (p.Gln1756Ter)
|
rs397509247
|
|
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)
|
rs80357906
|
|
NM_007294.4(BRCA1):c.5277+1G>A
|
rs80358150
|
|
NM_007294.4(BRCA1):c.5278-1_5332+2del
|
rs2153052213
|
|
NM_007294.4(BRCA1):c.5278-6T>C
|
rs1555575746
|
|
NM_007294.4(BRCA1):c.5280del (p.Phe1761fs)
|
rs2153085709
|
|
NM_007294.4(BRCA1):c.5296del (p.Ile1766fs)
|
rs1555575732
|
|
NM_007294.4(BRCA1):c.5306A>G (p.Tyr1769Cys)
|
rs397509257
|
|
NM_007294.4(BRCA1):c.5309G>T (p.Gly1770Val)
|
rs863224765
|
|
NM_007294.4(BRCA1):c.5319dup (p.Asn1774fs)
|
rs80357823
|
|
NM_007294.4(BRCA1):c.5327C>A (p.Pro1776His)
|
rs398122695
|
|
NM_007294.4(BRCA1):c.5332+20C>A
|
rs1057521961
|
|
NM_007294.4(BRCA1):c.5333-1_5406+2del
|
rs2152911310
|
|
NM_007294.4(BRCA1):c.5333-36_5406+401del
|
rs2152876889
|
|
NM_007294.4(BRCA1):c.5335C>G (p.Gln1779Glu)
|
rs397509267
|
|
NM_007294.4(BRCA1):c.5335del (p.Gln1779fs)
|
rs80357590
|
|
NM_007294.4(BRCA1):c.5346G>A (p.Trp1782Ter)
|
rs80357284
|
|
NM_007294.4(BRCA1):c.5353C>T (p.Gln1785Ter)
|
rs80356969
|
|
NM_007294.4(BRCA1):c.5356C>T (p.Leu1786=)
|
rs1555575167
|
|
NM_007294.4(BRCA1):c.5357T>C (p.Leu1786Pro)
|
rs398122697
|
|
NM_007294.4(BRCA1):c.5372T>A (p.Val1791Glu)
|
rs864622244
|
|
NM_007294.4(BRCA1):c.537C>A (p.Tyr179Ter)
|
rs2154528076
|
|
NM_007294.4(BRCA1):c.5380G>T (p.Glu1794Ter)
|
rs776323117
|
|
NM_007294.4(BRCA1):c.5396C>T (p.Thr1799Ile)
|
rs786201945
|
|
NM_007294.4(BRCA1):c.5406+46T>C
|
rs779935143
|
|
NM_007294.4(BRCA1):c.5407-1G>A
|
rs80358029
|
|
NM_007294.4(BRCA1):c.5407-73_5467+4del
|
rs2152762741
|
|
NM_007294.4(BRCA1):c.5427dup (p.Val1810fs)
|
rs1555574739
|
|
NM_007294.4(BRCA1):c.5429T>G (p.Val1810Gly)
|
rs80357451
|
|
NM_007294.4(BRCA1):c.5468-191_*2del
|
rs2152476215
|
|
NM_007294.4(BRCA1):c.5468-2A>G
|
rs398122699
|
|
NM_007294.4(BRCA1):c.547+14_547+15del
|
rs1555594761
|
|
NM_007294.4(BRCA1):c.547+14del
|
rs273902771
|
|
NM_007294.4(BRCA1):c.548-34T>C
|
rs1442560766
|
|
NM_007294.4(BRCA1):c.548-58del
|
rs8176144
|
|
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met)
|
rs80357268
|
|
NM_007294.4(BRCA1):c.5509T>G (p.Trp1837Gly)
|
rs80356959
|
|
NM_007294.4(BRCA1):c.5521A>C (p.Ser1841Arg)
|
rs80357299
|
|
NM_007294.4(BRCA1):c.5538G>A (p.Gln1846=)
|
rs80356849
|
|
NM_007294.4(BRCA1):c.5557T>A (p.Tyr1853Asn)
|
rs2050860958
|
|
NM_007294.4(BRCA1):c.593+1G>A
|
rs1567804153
|
|
NM_007294.4(BRCA1):c.594-16dup
|
rs1555593635
|
|
NM_007294.4(BRCA1):c.65_66insTA (p.Leu22fs)
|
rs1567823254
|
|
NM_007294.4(BRCA1):c.669G>A (p.Lys223=)
|
rs1131692066
|
|
NM_007294.4(BRCA1):c.66A>G (p.Leu22=)
|
rs786202533
|
|
NM_007294.4(BRCA1):c.66_67delinsTT (p.Leu22_Glu23delinsPheTer)
|
rs2154576881
|
|
NM_007294.4(BRCA1):c.66dup (p.Glu23fs)
|
rs80357783
|
|
NM_007294.4(BRCA1):c.670+3A>G
|
rs1555593531
|
|
NM_007294.4(BRCA1):c.671-12del
|
rs273902781
|
|
NM_007294.4(BRCA1):c.671-6T>G
|
rs878854964
|
|
NM_007294.4(BRCA1):c.672del (p.Ala225fs)
|
rs2154500888
|
|
NM_007294.4(BRCA1):c.676del (p.Cys226fs)
|
rs80357941
|
|
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs)
|
rs80357914
|
|
NM_007294.4(BRCA1):c.695dup (p.Asp232fs)
|
rs1555593302
|
|
NM_007294.4(BRCA1):c.705_4185+4del
|
|
|
NM_007294.4(BRCA1):c.709G>T (p.Glu237Ter)
|
rs2154496548
|
|
NM_007294.4(BRCA1):c.742A>C (p.Thr248Pro)
|
rs879255288
|
|
NM_007294.4(BRCA1):c.74C>T (p.Pro25Leu)
|
rs876660096
|
|
NM_007294.4(BRCA1):c.786G>A (p.Gln262=)
|
rs397509317
|
|
NM_007294.4(BRCA1):c.80+2T>G
|
rs80358128
|
|
NM_007294.4(BRCA1):c.80+5G>C
|
rs80358045
|
|
NM_007294.4(BRCA1):c.81-12C>T
|
rs80358055
|
|
NM_007294.4(BRCA1):c.81-13C>G
|
rs56328013
|
|
NM_007294.4(BRCA1):c.81-14C>A
|
rs80358006
|
|
NM_007294.4(BRCA1):c.81-14C>T
|
rs80358006
|
|
NM_007294.4(BRCA1):c.81-1_134+2del
|
rs2154565293
|
|
NM_007294.4(BRCA1):c.811G>C (p.Val271Leu)
|
rs80357244
|
|
NM_007294.4(BRCA1):c.823G>A (p.Gly275Ser)
|
rs8176153
|
|
NM_007294.4(BRCA1):c.843_846del (p.Ser282fs)
|
rs80357919
|
|
NM_007294.4(BRCA1):c.844_850dup (p.Gln284fs)
|
rs80357989
|
|
NM_007294.4(BRCA1):c.851del (p.Gln284fs)
|
rs2154489483
|
|
NM_007294.4(BRCA1):c.888A>G (p.Arg296=)
|
rs1555592914
|
|
NM_007294.4(BRCA1):c.895_896del (p.Val299fs)
|
rs80357670
|
|
NM_007294.4(BRCA1):c.901A>C (p.Lys301Gln)
|
rs756859863
|
|
NM_007294.4(BRCA1):c.962G>A (p.Trp321Ter)
|
rs80357292
|
|
NM_007294.4(BRCA1):c.97G>C (p.Glu33Gln)
|
rs80357066
|
|
NM_007294.4(BRCA1):c.984_988del (p.Cys328_Asp330delinsTer)
|
rs786204262
|
|
NM_012233.3(RAB3GAP1):c.2588A>C (p.Glu863Ala)
|
rs1234388277
|
|
NM_012418.4(FSCN2):c.1049G>C (p.Gly350Ala)
|
rs2143903578
|
|
NM_012452.3(TNFRSF13B):c.352C>G (p.Leu118Val)
|
rs1347191709
|
|
NM_013254.4(TBK1):c.1691A>G (p.Tyr564Cys)
|
rs776059942
|
|
NM_013275.6(ANKRD11):c.1402C>T (p.Arg468Cys)
|
rs555075240
|
|
NM_013372.7(GREM1):c.449C>G (p.Thr150Ser)
|
rs202104240
|
|
NM_014000.3(VCL):c.2862_2864del (p.Leu955del)
|
rs397517237
|
|
NM_014003.4(DHX38):c.1360C>T (p.His454Tyr)
|
rs2144145833
|
|
NM_014336.5(AIPL1):c.971G>T (p.Arg324Leu)
|
rs150427474
|
|
NM_014363.6(SACS):c.2926C>A (p.Arg976Ser)
|
rs139993038
|
|
NM_014363.6(SACS):c.8902C>T (p.Leu2968Phe)
|
rs768978881
|
|
NM_014423.4(AFF4):c.422G>A (p.Ser141Asn)
|
rs1393725898
|
|
NM_014494.4(TNRC6A):c.5261T>C (p.Ile1754Thr)
|
rs1385366986
|
|
NM_014625.4(NPHS2):c.302G>A (p.Cys101Tyr)
|
rs777738678
|
|
NM_014727.3(KMT2B):c.7428C>A (p.Ala2476=)
|
rs368560676
|
|
NM_014989.7(RIMS1):c.1679-20587G>A
|
rs181193740
|
|
NM_014989.7(RIMS1):c.3959C>T (p.Ser1320Phe)
|
rs140943787
|
|
NM_015046.7(SETX):c.2958G>C (p.Gln986His)
|
rs969060686
|
|
NM_015046.7(SETX):c.4517T>G (p.Met1506Arg)
|
rs199974622
|
|
NM_015100.4(POGZ):c.2315A>T (p.His772Leu)
|
rs2102164770
|
|
NM_015102.5(NPHP4):c.1226T>C (p.Leu409Pro)
|
rs1382775969
|
|
NM_015311.3(OBSL1):c.2306G>T (p.Arg769Leu)
|
rs372837798
|
|
NM_015311.3(OBSL1):c.4951G>T (p.Glu1651Ter)
|
rs140825693
|
|
NM_015335.5(MED13L):c.993A>G (p.Pro331=)
|
rs780190117
|
|
NM_015378.4(VPS13D):c.5524C>T (p.His1842Tyr)
|
rs1459554543
|
|
NM_015425.6(POLR1A):c.1370G>T (p.Gly457Val)
|
rs2104419422
|
|
NM_015488.5(PNKD):c.663C>G (p.Ile221Met)
|
rs749437540
|
|
NM_015559.3(SETBP1):c.4239G>C (p.Lys1413Asn)
|
rs200002988
|
|
NM_015922.3(NSDHL):c.395G>C (p.Cys132Ser)
|
rs2125012901
|
|
NM_015959.4(TMX2):c.95T>G (p.Leu32Arg)
|
rs1946683473
|
|
NM_016222.4(DDX41):c.27+2_27+5dup
|
rs142465759
|
|
NM_016341.4(PLCE1):c.1927G>A (p.Ala643Thr)
|
rs61886330
|
|
NM_016341.4(PLCE1):c.1927G>T (p.Ala643Ser)
|
rs61886330
|
|
NM_016343.4(CENPF):c.6376_6387delinsTGAAAAGAA (p.Val2126_Glu2129delinsTer)
|
rs2102566615
|
|
NM_016343.4(CENPF):c.6387_6388insAA (p.Ala2130fs)
|
rs2102566666
|
|
NM_016464.5(TMEM138):c.415G>A (p.Val139Ile)
|
rs141029883
|
|
NM_016953.4(PDE11A):c.2096T>A (p.Val699Glu)
|
rs774390793
|
|
NM_017570.5(OPLAH):c.3517C>T (p.Arg1173Cys)
|
rs930565646
|
|
NM_017617.5(NOTCH1):c.3332A>G (p.Asp1111Gly)
|
rs2133346648
|
|
NM_017636.4(TRPM4):c.2378T>G (p.Phe793Cys)
|
rs2123042535
|
|
NM_017646.6(TRIT1):c.236G>C (p.Arg79Pro)
|
rs35273801
|
|
NM_017654.4(SAMD9):c.2233A>G (p.Thr745Ala)
|
rs1562775062
|
|
NM_017654.4(SAMD9):c.223C>T (p.Arg75Trp)
|
rs111780648
|
|
NM_017672.6(TRPM7):c.4592T>G (p.Met1531Arg)
|
rs1458252909
|
|
NM_017680.6(ASPN):c.1090C>T (p.Arg364Cys)
|
rs1564330399
|
|
NM_017686.4(GDAP2):c.343A>G (p.Thr115Ala)
|
rs1649900652
|
|
NM_017760.7(NCAPG2):c.3300del (p.Lys1100_Val1101insTer)
|
rs772649511
|
|
NM_017780.4(CHD7):c.5575C>T (p.Pro1859Ser)
|
rs1182352756
|
|
NM_017950.4(CCDC40):c.2832+385_2832+470del
|
rs2143762791
|
|
NM_018112.3(TMEM38B):c.43A>C (p.Thr15Pro)
|
rs138722007
|
|
NM_018116.4(MSTO1):c.1159T>G (p.Ser387Ala)
|
rs2148994363
|
|
NM_018359.5(UFSP2):c.1291G>C (p.Gly431Arg)
|
rs768313407
|
|
NM_018417.6(ADCY10):c.307G>T (p.Ala103Ser)
|
rs1669443980
|
|
NM_018429.3(BDP1):c.3608C>T (p.Thr1203Ile)
|
rs746129660
|
|
NM_018444.4(PDP1):c.1355A>C (p.Lys452Thr)
|
rs749767366
|
|
NM_018669.6(WDR4):c.133AAG[1] (p.Lys46del)
|
rs745805783
|
|
NM_018685.5(ANLN):c.3229A>G (p.Arg1077Gly)
|
rs2116835878
|
|
NM_018941.4(CLN8):c.88G>A (p.Ala30Thr)
|
rs137852883
|
|
NM_018979.4(WNK1):c.277C>G (p.Leu93Val)
|
rs766628142
|
|
NM_018979.4(WNK1):c.4504G>A (p.Ala1502Thr)
|
rs2154084293
|
|
NM_019066.5(MAGEL2):c.1922C>G (p.Pro641Arg)
|
rs556296973
|
|
NM_019066.5(MAGEL2):c.639_668del (p.181HPPPPGTPMA[4])
|
rs1400019358
|
|
NM_019074.4(DLL4):c.875C>T (p.Ser292Phe)
|
rs775291009
|
|
NM_019098.5(CNGB3):c.2158CAAAAAGAAAATGAAGATAAA[1] (p.720QKENEDK[1])
|
rs746549330
|
|
NM_019109.5(ALG1):c.1292C>A (p.Ala431Glu)
|
rs370439294
|
|
NM_019109.5(ALG1):c.64G>A (p.Gly22Arg)
|
rs2142698324
|
|
NM_019112.4(ABCA7):c.1838T>C (p.Val613Ala)
|
rs200420300
|
|
NM_019594.4(LRRC8A):c.2317C>A (p.Leu773Met)
|
rs531989271
|
|
NM_020208.4(SLC6A20):c.1601T>G (p.Leu534Arg)
|
rs1553659698
|
|
NM_020320.5(RARS2):c.726A>G (p.Gln242=)
|
rs145499324
|
|
NM_020361.5(CPA6):c.266del (p.Asn89fs)
|
rs770265319
|
|
NM_020436.5(SALL4):c.36C>G (p.Ile12Met)
|
rs777241507
|
|
NM_020451.3(SELENON):c.580G>A (p.Ala194Thr)
|
rs560203077
|
|
NM_020533.3(MCOLN1):c.452G>A (p.Arg151His)
|
rs140148914
|
|
NM_020647.4(JPH1):c.491C>T (p.Ala164Val)
|
rs1808129380
|
|
NM_020655.4(JPH3):c.870C>T (p.Gly290=)
|
rs144950183
|
|
NM_020702.5(MYORG):c.1852C>A (p.Leu618Met)
|
rs772243609
|
|
NM_020745.4(AARS2):c.938A>G (p.Asp313Gly)
|
rs2153355456
|
|
NM_020762.4(SRGAP1):c.2063T>C (p.Ile688Thr)
|
rs1252384765
|
|
NM_020919.4(ALS2):c.1009C>T (p.Pro337Ser)
|
rs752311938
|
|
NM_021012.5(KCNJ12):c.364C>T (p.Pro122Ser)
|
rs112342786
|
|
NM_021625.5(TRPV4):c.2044G>A (p.Asp682Asn)
|
rs968378720
|
|
NM_021813.4(BACH2):c.1843C>A (p.Leu615Ile)
|
rs2128353846
|
|
NM_021814.5(ELOVL5):c.536T>G (p.Leu179Arg)
|
rs2127566383
|
|
NM_021999.5(ITM2B):c.94G>T (p.Asp32Tyr)
|
rs1335111071
|
|
NM_022081.6(HPS4):c.250A>T (p.Ile84Leu)
|
rs149830675
|
|
NM_022114.4(PRDM16):c.3428T>C (p.Val1143Ala)
|
rs2100702141
|
|
NM_022124.6(CDH23):c.7426T>A (p.Leu2476Met)
|
rs2132971570
|
|
NM_022124.6(CDH23):c.8860G>A (p.Asp2954Asn)
|
rs756793995
|
|
NM_022124.6(CDH23):c.9281A>T (p.His3094Leu)
|
rs2133002941
|
|
NM_022132.5(MCCC2):c.506A>T (p.Tyr169Phe)
|
rs1580281124
|
|
NM_022162.3(NOD2):c.3019dup (p.Leu1007fs)
|
rs2066847
|
|
NM_022336.4(EDAR):c.94G>A (p.Gly32Ser)
|
rs201793571
|
|
NM_022454.4(SOX17):c.770C>T (p.Ser257Leu)
|
rs1804699851
|
|
NM_022489.4(INF2):c.1262CACCCC[1] (p.Pro423_Pro428del)
|
rs573567814
|
|
NM_024009.3(GJB3):c.325C>A (p.His109Asn)
|
rs2148354286
|
|
NM_024057.4(NUP37):c.740G>T (p.Arg247Ile)
|
rs375098950
|
|
NM_024312.5(GNPTAB):c.945T>G (p.Asp315Glu)
|
rs2137124308
|
|
NM_024422.6(DSC2):c.548G>A (p.Arg183Gln)
|
rs554713834
|
|
NM_024577.4(SH3TC2):c.*12110dup
|
rs35182601
|
|
NM_024642.5(GALNT12):c.673A>T (p.Thr225Ser)
|
rs531023279
|
|
NM_024652.6(LRRK1):c.4909A>T (p.Lys1637Ter)
|
rs746379912
|
|
NM_024675.4(PALB2):c.1042C>T (p.Gln348Ter)
|
rs375699023
|
|
NM_024675.4(PALB2):c.1095G>A (p.Arg365=)
|
rs515726062
|
|
NM_024675.4(PALB2):c.1192del (p.Val398fs)
|
rs1555461407
|
|
NM_024675.4(PALB2):c.1222T>C (p.Tyr408His)
|
rs515726064
|
|
NM_024675.4(PALB2):c.1242A>C (p.Arg414=)
|
rs875989795
|
|
NM_024675.4(PALB2):c.1278G>A (p.Glu426=)
|
rs1555461362
|
|
NM_024675.4(PALB2):c.1347A>G (p.Lys449=)
|
rs587780205
|
|
NM_024675.4(PALB2):c.1451T>A (p.Leu484Ter)
|
rs786203714
|
|
NM_024675.4(PALB2):c.1837C>G (p.Gln613Glu)
|
rs1966865214
|
|
NM_024675.4(PALB2):c.1843C>T (p.Pro615Ser)
|
rs1019525144
|
|
NM_024675.4(PALB2):c.1881G>T (p.Val627=)
|
rs139362268
|
|
NM_024675.4(PALB2):c.2052del (p.Arg686fs)
|
rs587782680
|
|
NM_024675.4(PALB2):c.2188A>G (p.Ile730Val)
|
rs1060502735
|
|
NM_024675.4(PALB2):c.2192T>G (p.Leu731Ter)
|
rs1567217898
|
|
NM_024675.4(PALB2):c.2288_2291del (p.His762_Leu763insTer)
|
rs876659571
|
|
NM_024675.4(PALB2):c.2323C>T (p.Gln775Ter)
|
rs180177111
|
|
NM_024675.4(PALB2):c.2469C>G (p.Leu823=)
|
rs515726087
|
|
NM_024675.4(PALB2):c.2488del (p.Glu830fs)
|
rs876658813
|
|
NM_024675.4(PALB2):c.2575del (p.Ser859fs)
|
rs2142367858
|
|
NM_024675.4(PALB2):c.2607C>T (p.Ser869=)
|
rs45542234
|
|
NM_024675.4(PALB2):c.2615T>C (p.Val872Ala)
|
rs730881877
|
|
NM_024675.4(PALB2):c.2996+3A>G
|
rs876659931
|
|
NM_024675.4(PALB2):c.2996+9del
|
rs769414858
|
|
NM_024675.4(PALB2):c.2997-161_3113+4del
|
rs2142325910
|
|
NM_024675.4(PALB2):c.2999G>A (p.Gly1000Asp)
|
rs1597079946
|
|
NM_024675.4(PALB2):c.3031G>A (p.Glu1011Lys)
|
rs1302512878
|
|
NM_024675.4(PALB2):c.3095T>G (p.Met1032Arg)
|
rs745562326
|
|
NM_024675.4(PALB2):c.3114-1_3201+2del
|
rs2142298541
|
|
NM_024675.4(PALB2):c.3116del (p.Asn1039fs)
|
rs180177133
|
|
NM_024675.4(PALB2):c.3351-150_*2del
|
rs2142250624
|
|
NM_024675.4(PALB2):c.3362del (p.Gly1121fs)
|
rs515726117
|
|
NM_024675.4(PALB2):c.3369G>A (p.Val1123=)
|
rs753357848
|
|
NM_024675.4(PALB2):c.3418T>G (p.Trp1140Gly)
|
rs62625283
|
|
NM_024675.4(PALB2):c.3437A>T (p.Gln1146Leu)
|
rs587780219
|
|
NM_024675.4(PALB2):c.426G>A (p.Lys142=)
|
rs1967047677
|
|
NM_024675.4(PALB2):c.457A>C (p.Arg153=)
|
rs1375458252
|
|
NM_024675.4(PALB2):c.509G>C (p.Arg170Thr)
|
rs898765598
|
|
NM_024675.4(PALB2):c.509_510del (p.Arg170fs)
|
rs515726123
|
|
NM_024675.4(PALB2):c.654del (p.Asp219fs)
|
rs587781697
|
|
NM_024675.4(PALB2):c.661_662delinsTA (p.Val221Ter)
|
rs587782531
|
|
NM_024675.4(PALB2):c.695del (p.Gly232fs)
|
rs1060502769
|
|
NM_024675.4(PALB2):c.892_893del (p.Val298fs)
|
rs2142431841
|
|
NM_024675.4(PALB2):c.936T>C (p.Ser312=)
|
rs1555461534
|
|
NM_024675.4(PALB2):c.941A>G (p.Gln314Arg)
|
rs2142430398
|
|
NM_024747.6(HPS6):c.206_210dup (p.Trp71fs)
|
rs2136333791
|
|
NM_024809.5(TCTN2):c.1123A>G (p.Thr375Ala)
|
rs1256664879
|
|
NM_024996.7(GFM1):c.1936C>T (p.Leu646Phe)
|
rs2108117070
|
|
NM_025074.7(FRAS1):c.1255+5G>A
|
rs1341149556
|
|
NM_025074.7(FRAS1):c.2137G>A (p.Ala713Thr)
|
rs369605412
|
|
NM_025114.4(CEP290):c.7394_7395del (p.Glu2465fs)
|
rs569673313
|
|
NM_025114.4(CEP290):c.963T>A (p.Asp321Glu)
|
rs774072453
|
|
NM_030632.3(ASXL3):c.2579T>A (p.Met860Lys)
|
rs61734121
|
|
NM_030632.3(ASXL3):c.3500C>T (p.Ser1167Phe)
|
rs2067699917
|
|
NM_030632.3(ASXL3):c.6110C>T (p.Pro2037Leu)
|
rs770483501
|
|
NM_030662.4(MAP2K2):c.52A>T (p.Ile18Phe)
|
rs774968670
|
|
NM_030665.4(RAI1):c.3778GAG[1] (p.Glu1261del)
|
rs149716029
|
|
NM_030665.4(RAI1):c.834GCA[7] (p.Gln286_Gln291del)
|
rs371983878
|
|
NM_031475.3(ESPN):c.823C>G (p.Pro275Ala)
|
rs3817921
|
|
NM_031889.3(ENAM):c.2226G>C (p.Glu742Asp)
|
rs753647450
|
|
NM_031935.3(HMCN1):c.14825G>T (p.Gly4942Val)
|
rs1327769785
|
|
NM_031935.3(HMCN1):c.15754T>C (p.Tyr5252His)
|
rs1652266749
|
|
NM_032043.3(BRIP1):c.*15C>G
|
rs1057523100
|
|
NM_032043.3(BRIP1):c.1090A>G (p.Ile364Val)
|
rs770306753
|
|
NM_032043.3(BRIP1):c.1141-9A>G
|
rs1555607258
|
|
NM_032043.3(BRIP1):c.1170C>T (p.Val390=)
|
rs754755989
|
|
NM_032043.3(BRIP1):c.1180G>C (p.Glu394Gln)
|
rs2077952602
|
|
NM_032043.3(BRIP1):c.133G>T (p.Glu45Ter)
|
rs587781292
|
|
NM_032043.3(BRIP1):c.1552G>A (p.Val518Ile)
|
rs786201701
|
|
NM_032043.3(BRIP1):c.1566A>G (p.Ser522=)
|
rs985465808
|
|
NM_032043.3(BRIP1):c.1715T>G (p.Val572Gly)
|
rs1603334516
|
|
NM_032043.3(BRIP1):c.2097+5G>A
|
rs1567808616
|
|
NM_032043.3(BRIP1):c.2120G>T (p.Arg707Leu)
|
rs200313471
|
|
NM_032043.3(BRIP1):c.2158G>A (p.Val720Met)
|
rs1555591459
|
|
NM_032043.3(BRIP1):c.2258-1G>A
|
rs1064793887
|
|
NM_032043.3(BRIP1):c.2492_2492+5del
|
rs1603293306
|
|
NM_032043.3(BRIP1):c.256TGT[2] (p.Cys88del)
|
rs587781388
|
|
NM_032043.3(BRIP1):c.2684_2687del (p.Val894_Ser895insTer)
|
rs760551339
|
|
NM_032043.3(BRIP1):c.2947del (p.Ile983fs)
|
rs774684620
|
|
NM_032043.3(BRIP1):c.3020C>A (p.Ser1007Tyr)
|
rs886053214
|
|
NM_032043.3(BRIP1):c.3374_3376del (p.Ala1125del)
|
rs745344948
|
|
NM_032043.3(BRIP1):c.337A>C (p.Thr113Pro)
|
rs1555617812
|
|
NM_032043.3(BRIP1):c.3409T>C (p.Tyr1137His)
|
rs2061308195
|
|
NM_032043.3(BRIP1):c.3409_3411delinsCAC (p.Tyr1137His)
|
rs2144077137
|
|
NM_032043.3(BRIP1):c.428A>G (p.Gln143Arg)
|
rs1603362656
|
|
NM_032043.3(BRIP1):c.613T>G (p.Phe205Val)
|
rs1603361561
|
|
NM_032043.3(BRIP1):c.629C>A (p.Pro210His)
|
rs140097800
|
|
NM_032043.3(BRIP1):c.819G>T (p.Met273Ile)
|
rs2145415194
|
|
NM_032043.3(BRIP1):c.93+2dup
|
rs786202125
|
|
NM_032119.4(ADGRV1):c.13668A>G (p.Thr4556=)
|
rs758546069
|
|
NM_032119.4(ADGRV1):c.18803G>T (p.Gly6268Val)
|
rs1246740079
|
|
NM_032273.4(TMEM126A):c.62T>G (p.Ile21Ser)
|
rs201584707
|
|
NM_032383.5(HPS3):c.2830T>G (p.Cys944Gly)
|
rs2108187101
|
|
NM_032387.5(WNK4):c.716C>G (p.Ser239Trp)
|
rs199775692
|
|
NM_032387.5(WNK4):c.776C>T (p.Ser259Leu)
|
rs138156012
|
|
NM_032415.7(CARD11):c.1518+3G>C
|
rs1780015241
|
|
NM_032415.7(CARD11):c.2863G>A (p.Gly955Ser)
|
rs760763007
|
|
NM_032427.4(MAML2):c.1839ACAGCA[1] (p.Gln616_Gln621del)
|
rs749502756
|
|
NM_032485.6(MCM8):c.2059C>T (p.Arg687Ter)
|
rs140773345
|
|
NM_032578.4(MYPN):c.1856C>T (p.Thr619Ile)
|
rs1329226753
|
|
NM_032578.4(MYPN):c.625TCT[1] (p.Ser210del)
|
rs749944961
|
|
NM_032608.7(MYO18B):c.4139A>G (p.Lys1380Arg)
|
rs2146197025
|
|
NM_032861.4(SERAC1):c.1843G>A (p.Asp615Asn)
|
rs1376764852
|
|
NM_032861.4(SERAC1):c.610G>T (p.Asp204Tyr)
|
rs1192726389
|
|
NM_033028.5(BBS4):c.805A>T (p.Ser269Cys)
|
rs917260700
|
|
NM_033343.4(LHX4):c.724_726del (p.Lys242del)
|
rs771109452
|
|
NM_033360.4(KRAS):c.57G>T (p.Leu19Phe)
|
rs121913538
|
|
NM_033380.3(COL4A5):c.768G>C (p.Gln256His)
|
rs2147771484
|
|
NM_057176.3(BSND):c.696G>T (p.Arg232Ser)
|
rs886046424
|
|
NM_058216.3(RAD51C):c.146-4_146-2del
|
rs1555593450
|
|
NM_058216.3(RAD51C):c.323A>G (p.Asp108Gly)
|
rs1555593745
|
|
NM_058216.3(RAD51C):c.394dup (p.Thr132fs)
|
rs730881940
|
|
NM_058216.3(RAD51C):c.397C>T (p.Gln133Ter)
|
rs387907159
|
|
NM_058216.3(RAD51C):c.475G>A (p.Asp159Asn)
|
rs775213492
|
|
NM_058216.3(RAD51C):c.68_72dup (p.Val25fs)
|
rs2047807048
|
|
NM_058216.3(RAD51C):c.696A>G (p.Glu232=)
|
rs786201177
|
|
NM_058216.3(RAD51C):c.701C>G (p.Ser234Ter)
|
rs587782818
|
|
NM_058216.3(RAD51C):c.705G>T (p.Lys235Asn)
|
rs755849719
|
|
NM_058216.3(RAD51C):c.81G>A (p.Leu27=)
|
rs1311969744
|
|
NM_058216.3(RAD51C):c.966-2_1026+1del
|
rs2144044038
|
|
NM_078480.3(PUF60):c.1159C>G (p.Arg387Gly)
|
rs1360290859
|
|
NM_080425.4(GNAS):c.422C>G (p.Pro141Arg)
|
rs942980796
|
|
NM_080680.3(COL11A2):c.4391C>A (p.Pro1464His)
|
rs944163816
|
|
NM_080683.3(PTPN13):c.3953G>C (p.Arg1318Pro)
|
rs749733308
|
|
NM_080683.3(PTPN13):c.5003C>A (p.Ala1668Glu)
|
rs61730639
|
|
NM_080683.3(PTPN13):c.7142C>T (p.Thr2381Ile)
|
rs61730641
|
|
NM_130839.5(UBE3A):c.-164-3898dup
|
rs57736236
|
|
NM_133379.5(TTN):c.14691G>C (p.Glu4897Asp)
|
rs2084069317
|
|
NM_133379.5(TTN):c.15056A>C (p.His5019Pro)
|
rs754315701
|
|
NM_138409.4(MRAP2):c.209C>T (p.Thr70Ile)
|
rs769994997
|
|
NM_138426.4(GLCCI1):c.589A>C (p.Met197Leu)
|
rs139383513
|
|
NM_138554.5(TLR4):c.2308G>A (p.Val770Ile)
|
rs2131173424
|
|
NM_138694.4(PKHD1):c.11309A>G (p.Gln3770Arg)
|
rs1770520773
|
|
NM_138694.4(PKHD1):c.11525G>T (p.Arg3842Leu)
|
rs76572975
|
|
NM_138694.4(PKHD1):c.1156AAT[1] (p.Asn387del)
|
rs1554218506
|
|
NM_138694.4(PKHD1):c.2948G>A (p.Cys983Tyr)
|
rs1554208064
|
|
NM_138694.4(PKHD1):c.3940del (p.Ser1314fs)
|
rs1057517273
|
|
NM_138694.4(PKHD1):c.4021_4022del (p.Gln1341fs)
|
rs1802068057
|
|
NM_138694.4(PKHD1):c.5090G>A (p.Gly1697Asp)
|
rs752432638
|
|
NM_138694.4(PKHD1):c.5825A>G (p.Asp1942Gly)
|
rs1210846081
|
|
NM_138694.4(PKHD1):c.5935G>A (p.Gly1979Arg)
|
rs1583446897
|
|
NM_138694.4(PKHD1):c.6406A>G (p.Ser2136Gly)
|
rs746902402
|
|
NM_138694.4(PKHD1):c.6442G>T (p.Glu2148Ter)
|
rs1782990176
|
|
NM_138694.4(PKHD1):c.733C>T (p.Leu245=)
|
rs111809699
|
|
NM_138711.6(PPARG):c.806A>G (p.Gln269Arg)
|
rs2125284211
|
|
NM_138715.3(MSR1):c.877C>T (p.Arg293Ter)
|
rs41341748
|
|
NM_138773.4(SLC25A46):c.938_940dup (p.Tyr313dup)
|
rs374899270
|
|
NM_139017.7(IL31RA):c.59A>G (p.Asn20Ser)
|
rs1169339313
|
|
NM_139076.3(ABRAXAS1):c.7G>C (p.Gly3Arg)
|
rs370520589
|
|
NM_139242.4(MTFMT):c.669G>T (p.Leu223Phe)
|
rs372732702
|
|
NM_144573.4(NEXN):c.1946GAG[1] (p.Gly650del)
|
rs397517853
|
|
NM_144599.5(NIPA1):c.511A>G (p.Met171Val)
|
rs762651676
|
|
NM_144668.6(CFAP251):c.1097A>T (p.Asp366Val)
|
rs2135764189
|
|
NM_144701.3(IL23R):c.1195G>A (p.Asp399Asn)
|
rs1652919364
|
|
NM_144773.4(PROKR2):c.1042A>C (p.Met348Leu)
|
rs368145317
|
|
NM_144997.7(FLCN):c.203G>A (p.Ser68Asn)
|
rs2145040935
|
|
NM_145207.3(AFG2A):c.2586C>G (p.Phe862Leu)
|
rs1344006407
|
|
NM_145207.3(AFG2A):c.383C>T (p.Ala128Val)
|
rs1326756676
|
|
NM_147127.5(EVC2):c.139C>T (p.Pro47Ser)
|
rs376923652
|
|
NM_147127.5(EVC2):c.3480T>G (p.Asp1160Glu)
|
rs2108770792
|
|
NM_152383.5(DIS3L2):c.*11CCGCCTGCC[2]
|
rs538186468
|
|
NM_152416.4(NDUFAF6):c.95G>A (p.Arg32His)
|
rs1192597043
|
|
NM_152419.3(HGSNAT):c.137A>T (p.His46Leu)
|
rs2130677199
|
|
NM_152542.5(PPM1K):c.469G>A (p.Glu157Lys)
|
rs1731806740
|
|
NM_152564.5(VPS13B):c.1769C>T (p.Ala590Val)
|
rs182397346
|
|
NM_152564.5(VPS13B):c.3515C>T (p.Thr1172Ile)
|
rs1306881471
|
|
NM_152564.5(VPS13B):c.9331-1delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
|
rs2130857700
|
|
NM_152564.5(VPS13B):c.9331-3dup
|
rs370235149
|
|
NM_152564.5(VPS13B):c.9331-5_9331-3dup
|
rs370235149
|
|
NM_152618.3(BBS12):c.977CTT[2] (p.Ser328del)
|
rs779801356
|
|
NM_152703.5(SAMD9L):c.2032G>C (p.Glu678Gln)
|
rs1459788150
|
|
NM_153240.5(NPHP3):c.1056A>T (p.Val352=)
|
rs2107996320
|
|
NM_153603.4(COG7):c.2313A>T (p.Ter771Cys)
|
rs1963139535
|
|
NM_153676.4(USH1C):c.2525del (p.Pro842fs)
|
rs754257195
|
|
NM_153704.6(TMEM67):c.2768_2770del (p.Glu923del)
|
rs2130799481
|
|
NM_172107.4(KCNQ2):c.1502C>T (p.Ala501Val)
|
rs1465109197
|
|
NM_172362.3(KCNH1):c.2962G>T (p.Ala988Ser)
|
rs371262198
|
|
NM_173354.5(SIK1):c.803C>A (p.Thr268Asn)
|
rs1339466208
|
|
NM_173653.4(SLC9A9):c.545A>T (p.Tyr182Phe)
|
rs368916653
|
|
NM_173660.5(DOK7):c.1340_1354del (p.Leu447_Arg451del)
|
rs779508279
|
|
NM_174916.3(UBR1):c.5113G>A (p.Gly1705Ser)
|
rs2141245368
|
|
NM_177939.3(P4HTM):c.1436G>A (p.Arg479Gln)
|
rs1411482860
|
|
NM_178452.6(DNAAF1):c.261-3C>G
|
rs780546636
|
|
NM_178857.6(RP1L1):c.3968A>T (p.Glu1323Val)
|
rs1277484313
|
|
NM_178857.6(RP1L1):c.3970_3971insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG (p.Glu1323_Glu1324insGlyThrLysValIleGluGlyLeuGlnGluGluArgValGlnLeuGlu)
|
rs369606728
|
|
NM_178857.6(RP1L1):c.3971A>G (p.Glu1324Gly)
|
rs4240659
|
|
NM_178857.6(RP1L1):c.4018_4019insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG (p.Glu1339_Glu1340insGlyThrLysValIleGluGlyLeuGlnGluGluArgValGlnLeuGlu)
|
rs1585963467
|
|
NM_181507.2(HPS5):c.1174A>T (p.Thr392Ser)
|
rs753465573
|
|
NM_181675.4(PPP2R2B):c.571G>T (p.Ala191Ser)
|
rs143485788
|
|
NM_181882.3(PRX):c.1972C>T (p.Gln658Ter)
|
rs2145729505
|
|
NM_182643.3(DLC1):c.944G>T (p.Gly315Val)
|
rs1261929062
|
|
NM_182914.3(SYNE2):c.775C>G (p.Leu259Val)
|
rs2153436760
|
|
NM_182961.4(SYNE1):c.11446C>T (p.His3816Tyr)
|
rs761960802
|
|
NM_182961.4(SYNE1):c.12585G>A (p.Lys4195=)
|
rs149536991
|
|
NM_182961.4(SYNE1):c.20185A>C (p.Ile6729Leu)
|
rs866043287
|
|
NM_182961.4(SYNE1):c.2383C>T (p.Gln795Ter)
|
rs2154265455
|
|
NM_182961.4(SYNE1):c.263C>T (p.Ala88Val)
|
rs2154348376
|
|
NM_182961.4(SYNE1):c.8003A>G (p.Gln2668Arg)
|
rs2154133685
|
|
NM_182972.3(IRF2BP2):c.864C>T (p.Gly288=)
|
rs768782125
|
|
NM_183050.4(BCKDHB):c.25G>A (p.Gly9Ser)
|
rs571728255
|
|
NM_194248.3(OTOF):c.2287G>A (p.Val763Ile)
|
rs138545671
|
|
NM_194248.3(OTOF):c.3913AAG[5] (p.Lys1310del)
|
rs368148603
|
|
NM_194302.4(CFAP65):c.3031T>A (p.Ser1011Thr)
|
rs1362260844
|
|
NM_198129.4(LAMA3):c.7571A>G (p.Asn2524Ser)
|
rs2145244591
|
|
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del)
|
rs377639087
|
|
NM_198334.3(GANAB):c.262G>T (p.Val88Leu)
|
rs145841521
|
|
NM_198334.3(GANAB):c.2717A>G (p.Gln906Arg)
|
rs2134454930
|
|
NM_198407.2(GHSR):c.733G>A (p.Gly245Ser)
|
rs1176554055
|
|
NM_198407.2(GHSR):c.96C>G (p.Asp32Glu)
|
rs751202593
|
|
NM_198428.3(BBS9):c.2072C>G (p.Pro691Arg)
|
rs759571062
|
|
NM_198488.5(FAM83H):c.2377del (p.Leu793fs)
|
rs2129664310
|
|
NM_198525.3(KIF7):c.2649G>T (p.Glu883Asp)
|
rs765751072
|
|
NM_198681.4(PLEKHG5):c.-120C>T
|
rs201669114
|
|
NM_199420.4(POLQ):c.2524G>A (p.Ala842Thr)
|
rs2108799242
|
|
NM_199420.4(POLQ):c.2900G>A (p.Ser967Asn)
|
rs2108798995
|
|
NM_199420.4(POLQ):c.3072_3074del (p.Lys1025del)
|
rs41547220
|
|
NM_199420.4(POLQ):c.3941T>C (p.Val1314Ala)
|
rs2108798342
|
|
NM_199420.4(POLQ):c.3983C>G (p.Ser1328Ter)
|
rs200227584
|
|
NM_199420.4(POLQ):c.4729C>A (p.Pro1577Thr)
|
rs912781729
|
|
NM_201378.4(PLEC):c.71-11629G>A
|
rs782692739
|
|
NM_201384.3(PLEC):c.13479_13490dup (p.4491TGSR[3])
|
rs782472576
|
|
NM_201384.3(PLEC):c.1844T>C (p.Leu615Pro)
|
rs2131908618
|
|
NM_201384.3(PLEC):c.2236C>T (p.Arg746Cys)
|
rs782156696
|
|
NM_201384.3(PLEC):c.5800T>C (p.Phe1934Leu)
|
rs1554695889
|
|
NM_201384.3(PLEC):c.8506G>A (p.Asp2836Asn)
|
rs200814155
|
|
NM_206809.4(MOG):c.636T>A (p.Phe212Leu)
|
rs112913018
|
|
NM_206933.4(USH2A):c.11659T>G (p.Trp3887Gly)
|
rs1660298981
|
|
NM_206933.4(USH2A):c.3026C>A (p.Ala1009Asp)
|
rs150729680
|
|
NM_207122.2(EXT2):c.245A>C (p.Asp82Ala)
|
rs534539796
|
|
NM_207352.4(CYP4V2):c.1169G>A (p.Arg390His)
|
rs199476201
|
|
NM_212482.4(FN1):c.6853+12C>G
|
rs111303746
|
|
NM_213606.4(SLC16A12):c.609G>T (p.Trp203Cys)
|
rs780179198
|
|
Single allele
|
|
|