ClinVar Miner

List of variants reported by Department of Pathology and Laboratory Medicine, Sinai Health System

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8208
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HGVS dbSNP gnomAD frequency
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

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