ClinVar Miner

Variants with conflicting interpretations "likely benign" from Counsyl and "benign" from any submitter

Minimum review status of the submission from Counsyl: Collection method of the submission from Counsyl:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 722
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HGVS dbSNP gnomAD frequency
NM_000152.5(GAA):c.668G>A (p.Arg223His) rs1042395 0.65662
NM_004360.5(CDH1):c.*54C>T rs1801026 0.17023
NM_002691.4(POLD1):c.463+8G>T rs1726802 0.13898
NM_002691.4(POLD1):c.3218+10A>G rs2463239 0.11362
NM_005373.3(MPL):c.340G>A (p.Val114Met) rs12731981 0.02191
NM_012434.5(SLC17A5):c.1111+7G>A rs146729568 0.01982
NM_001369.3(DNAH5):c.2683G>A (p.Glu895Lys) rs76229167 0.01663
NM_033056.4(PCDH15):c.5359C>T (p.Pro1787Ser) rs61862390 0.01583
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser) rs35034250 0.01555
NM_001369.3(DNAH5):c.3301G>A (p.Val1101Met) rs61747516 0.01505
NM_001369.3(DNAH5):c.3241A>G (p.Met1081Val) rs16902880 0.01472
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser) rs17154353 0.01449
NM_001164508.2(NEB):c.11729A>G (p.Asp3910Gly) rs35740585 0.01429
NM_005373.3(MPL):c.117G>T (p.Lys39Asn) rs17292650 0.01420
NM_006231.4(POLE):c.6418G>A (p.Glu2140Lys) rs5745066 0.01416
NM_001386140.1(MTTP):c.136C>G (p.Arg46Gly) rs141736123 0.01357
NM_001369.3(DNAH5):c.5658C>T (p.Tyr1886=) rs6880264 0.01314
NM_001142800.2(EYS):c.-459C>T rs144371265 0.01261
NM_001384474.1(LOXHD1):c.2080G>T (p.Asp694Tyr) rs35727744 0.01194
NM_001370658.1(BTD):c.820A>G (p.Ile274Val) rs35976361 0.01187
NM_138694.4(PKHD1):c.10585G>C (p.Glu3529Gln) rs145184792 0.01187
NM_001370658.1(BTD):c.1224C>T (p.Tyr408=) rs35145938 0.01185
NM_002878.4(RAD51D):c.698A>G (p.Glu233Gly) rs28363284 0.01102
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971 0.01088
NM_000051.4(ATM):c.735C>T (p.Val245=) rs3218674 0.01085
NM_000536.4(RAG2):c.1158C>A (p.Phe386Leu) rs34629171 0.01070
NM_138694.4(PKHD1):c.3686G>C (p.Trp1229Ser) rs2499481 0.01066
NM_000441.2(SLC26A4):c.970A>T (p.Asn324Tyr) rs36039758 0.01056
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser) rs80358251 0.01055
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945 0.01054
NM_138694.4(PKHD1):c.8606C>A (p.Thr2869Lys) rs142522748 0.01047
NM_000383.4(AIRE):c.755C>T (p.Pro252Leu) rs34397615 0.01042
NM_000441.2(SLC26A4):c.1002-9A>C rs10234822 0.01002
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973 0.00994
NM_001384474.1(LOXHD1):c.1742T>C (p.Val581Ala) rs35007621 0.00961
NM_000404.4(GLB1):c.1306C>T (p.Leu436Phe) rs34421970 0.00952
NM_006231.4(POLE):c.3265_3275+15dup rs1555225627 0.00913
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn) rs115311625 0.00908
NM_001369.3(DNAH5):c.4836G>A (p.Val1612=) rs34671383 0.00895
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726 0.00885
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu) rs1800056 0.00861
NM_001369.3(DNAH5):c.1647C>G (p.Asn549Lys) rs139160176 0.00831
NM_001369.3(DNAH5):c.6579+6A>G rs141389162 0.00798
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro) rs4986761 0.00782
NM_000441.2(SLC26A4):c.1488C>T (p.Leu496=) rs77407094 0.00782
NM_001692.4(ATP6V1B1):c.144C>T (p.Asn48=) rs144845223 0.00779
NM_138694.4(PKHD1):c.7921A>G (p.Thr2641Ala) rs7766366 0.00773
NM_001384474.1(LOXHD1):c.4526G>A (p.Gly1509Glu) rs187587197 0.00751
NM_000642.3(AGL):c.1481G>A (p.Arg494His) rs141043166 0.00743
NM_000465.4(BARD1):c.1972C>T (p.Arg658Cys) rs3738888 0.00736
NM_001384474.1(LOXHD1):c.1028G>A (p.Arg343His) rs183531840 0.00717
NM_138694.4(PKHD1):c.8521A>G (p.Met2841Val) rs113562492 0.00702
NM_001384140.1(PCDH15):c.4024C>A (p.Gln1342Lys) rs61731387 0.00699
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg) rs115045643 0.00681
NM_000441.2(SLC26A4):c.15C>A (p.Gly5=) rs7811324 0.00669
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317 0.00653
NM_000051.4(ATM):c.3383A>G (p.Gln1128Arg) rs2229020 0.00636
NM_138694.4(PKHD1):c.4343A>G (p.Glu1448Gly) rs116809571 0.00632
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727 0.00609
NM_032383.5(HPS3):c.823G>A (p.Glu275Lys) rs34388030 0.00590
NM_001130987.2(DYSF):c.1216G>C (p.Val406Leu) rs150724610 0.00580
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166 0.00570
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr) rs35196441 0.00569
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp) rs115338476 0.00551
NM_006231.4(POLE):c.6494G>A (p.Arg2165His) rs5745068 0.00550
NM_001378454.1(ALMS1):c.12362+18A>T rs535484933 0.00525
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098 0.00519
NM_000051.4(ATM):c.6088A>G (p.Ile2030Val) rs145847315 0.00517
NM_006231.4(POLE):c.6763A>T (p.Ile2255Phe) rs73155056 0.00513
NM_001384474.1(LOXHD1):c.1843C>A (p.Arg615=) rs112463030 0.00507
NM_000277.3(PAH):c.820A>G (p.Lys274Glu) rs142934616 0.00496
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734 0.00488
NM_005373.3(MPL):c.210G>A (p.Pro70=) rs6086 0.00482
NM_000329.3(RPE65):c.1155G>A (p.Thr385=) rs62653014 0.00481
NM_002878.4(RAD51D):c.695G>A (p.Arg232Gln) rs28363283 0.00457
NM_004646.4(NPHS1):c.43G>C (p.Gly15Arg) rs73928330 0.00456
NM_000441.2(SLC26A4):c.898A>C (p.Ile300Leu) rs111033304 0.00450
NM_001142800.2(EYS):c.8429C>T (p.Thr2810Ile) rs144513453 0.00443
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val) rs1801673 0.00441
NM_000520.6(HEXA):c.673-13T>C rs75211071 0.00438
NM_000057.4(BLM):c.3128C>A (p.Ala1043Asp) rs2229035 0.00421
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689 0.00419
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu) rs34997054 0.00411
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr) rs45503297 0.00407
NM_002529.4(NTRK1):c.2339G>A (p.Arg780Gln) rs35669708 0.00406
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp) rs61749249 0.00399
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg) rs55953736 0.00396
NM_000153.4(GALC):c.1006G>A (p.Val336Met) rs185073540 0.00368
NM_001384474.1(LOXHD1):c.1945G>A (p.Asp649Asn) rs141932807 0.00362
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser) rs148206382 0.00359
NM_000271.5(NPC1):c.2882A>G (p.Asn961Ser) rs34084984 0.00352
NM_000027.4(AGA):c.394+19_394+20del rs575232762 0.00349
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr) rs61758784 0.00349
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala) rs138427376 0.00342
NM_006231.4(POLE):c.2468+10C>T rs5744823 0.00342
NM_000135.4(FANCA):c.2216C>T (p.Pro739Leu) rs45441106 0.00341
NM_000059.4(BRCA2):c.1275A>G (p.Glu425=) rs34355306 0.00335
NM_000243.3(MEFV):c.910G>A (p.Gly304Arg) rs75977701 0.00316
NM_006493.4(CLN5):c.-87C>T rs200353554 0.00309
NM_024675.4(PALB2):c.1419A>C (p.Pro473=) rs62625275 0.00309
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485 0.00307
NM_005732.4(RAD50):c.280A>C (p.Ile94Leu) rs28903085 0.00300
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724 0.00295
NM_000441.2(SLC26A4):c.849G>C (p.Met283Ile) rs146348818 0.00293
NM_005591.4(MRE11):c.121G>A (p.Asp41Asn) rs116679717 0.00293
NM_005732.4(RAD50):c.3879C>T (p.Ile1293=) rs28903094 0.00293
NM_006231.4(POLE):c.16G>C (p.Gly6Arg) rs202220778 0.00293
NM_000059.4(BRCA2):c.7805+6C>G rs81002819 0.00290
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile) rs148932323 0.00287
NM_000170.3(GLDC):c.2053-5C>G rs140877566 0.00278
NM_000059.4(BRCA2):c.68-7T>A rs81002830 0.00277
NM_002485.5(NBN):c.1222A>G (p.Lys408Glu) rs34120922 0.00276
NM_000441.2(SLC26A4):c.2139T>G (p.Ile713Met) rs143708308 0.00268
NM_000051.4(ATM):c.2362A>C (p.Ser788Arg) rs641252 0.00265
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His) rs35029074 0.00260
NM_005591.4(MRE11):c.969A>G (p.Pro323=) rs13447633 0.00258
NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile) rs150576537 0.00250
NM_000077.5(CDKN2A):c.430C>T (p.Arg144Cys) rs116150891 0.00248
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749 0.00239
NM_020975.6(RET):c.1336G>C (p.Gly446Arg) rs115423919 0.00238
NM_000329.3(RPE65):c.881A>C (p.Lys294Thr) rs61752901 0.00232
NM_000465.4(BARD1):c.1977A>G (p.Arg659=) rs147215925 0.00230
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_000465.4(BARD1):c.620A>G (p.Lys207Arg) rs34969857 0.00218
NM_005732.4(RAD50):c.2670G>A (p.Gln890=) rs112241748 0.00216
NM_000051.4(ATM):c.370A>G (p.Ile124Val) rs148590073 0.00215
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser) rs147241704 0.00207
NM_002878.4(RAD51D):c.771C>T (p.Ser257=) rs146212490 0.00206
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008 0.00203
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746 0.00202
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu) rs17883862 0.00201
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro) rs4988347 0.00197
NM_000059.4(BRCA2):c.231T>G (p.Thr77=) rs114446594 0.00191
NM_007194.4(CHEK2):c.1407G>A (p.Val469=) rs17881378 0.00190
NM_000051.4(ATM):c.1229T>C (p.Val410Ala) rs56128736 0.00186
NM_000329.3(RPE65):c.978G>T (p.Val326=) rs61752907 0.00186
NM_007294.4(BRCA1):c.2814A>G (p.Pro938=) rs80356851 0.00183
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710 0.00182
NM_000535.7(PMS2):c.23+10G>C rs192027828 0.00182
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169 0.00177
NM_000465.4(BARD1):c.33G>T (p.Gln11His) rs143914387 0.00176
NM_000520.6(HEXA):c.346+13C>T rs200871198 0.00173
NM_002878.4(RAD51D):c.481-7G>A rs145832514 0.00171
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059 0.00169
NM_000059.4(BRCA2):c.4187A>G (p.Gln1396Arg) rs55969723 0.00168
NM_001384474.1(LOXHD1):c.5313C>T (p.Gly1771=) rs373924055 0.00168
NM_000520.6(HEXA):c.1146+8G>A rs201453018 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_007294.4(BRCA1):c.21C>T (p.Arg7=) rs149402012 0.00165
NM_024675.4(PALB2):c.400G>A (p.Asp134Asn) rs139555085 0.00160
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747 0.00158
NM_007294.4(BRCA1):c.1137T>G (p.Ile379Met) rs56128296 0.00158
NM_005732.4(RAD50):c.2091C>T (p.Val697=) rs61747588 0.00156
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn) rs142155101 0.00153
NM_005591.4(MRE11):c.822T>C (p.Leu274=) rs137868143 0.00152
NM_001164508.2(NEB):c.914A>G (p.Asp305Gly) rs36105240 0.00148
NM_007294.4(BRCA1):c.2109A>G (p.Thr703=) rs4986844 0.00147
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600 0.00146
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709 0.00137
NM_002691.4(POLD1):c.2007-4G>A rs202035484 0.00135
NM_000179.3(MSH6):c.3647-6T>A rs182871847 0.00134
NM_000137.4(FAH):c.961-17G>A rs372657388 0.00133
NM_002878.4(RAD51D):c.666A>G (p.Glu222=) rs114012742 0.00131
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr) rs139866691 0.00129
NM_000059.4(BRCA2):c.6821G>T (p.Gly2274Val) rs55712212 0.00126
NM_002878.4(RAD51D):c.263+1588A>G rs180869630 0.00123
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192 0.00121
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val) rs75789129 0.00119
NM_007294.4(BRCA1):c.591C>T (p.Cys197=) rs1799965 0.00117
NM_024675.4(PALB2):c.2834+18A>T rs114491776 0.00113
NM_001370259.2(MEN1):c.30G>T (p.Leu10=) rs371192390 0.00111
NM_001384474.1(LOXHD1):c.4217C>T (p.Ala1406Val) rs146739496 0.00111
NM_005591.4(MRE11):c.426C>T (p.Asp142=) rs3218740 0.00109
NM_000492.4(CFTR):c.2620-26A>G rs201716473 0.00108
NM_020975.6(RET):c.1197G>A (p.Pro399=) rs148371113 0.00108
NM_000059.4(BRCA2):c.9235G>A (p.Val3079Ile) rs55933907 0.00106
NM_007294.4(BRCA1):c.3083G>A (p.Arg1028His) rs80357459 0.00106
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406 0.00103
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr) rs61752878 0.00103
NM_000179.3(MSH6):c.984C>T (p.Ser328=) rs138143769 0.00101
NM_024675.4(PALB2):c.909C>T (p.Leu303=) rs145788619 0.00101
NM_000535.7(PMS2):c.353+9A>C rs139990791 0.00099
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr) rs4986854 0.00098
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=) rs11571655 0.00097
NM_000038.6(APC):c.2262T>G (p.Val754=) rs148987776 0.00096
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711 0.00096
NM_000059.4(BRCA2):c.6937+594T>G rs191253965 0.00096
NM_002691.4(POLD1):c.3120+12G>A rs182231620 0.00094
NM_002691.4(POLD1):c.971-19G>A rs56022846 0.00089
NM_000038.6(APC):c.6821C>T (p.Ala2274Val) rs34919187 0.00088
NM_000520.6(HEXA):c.1527-6T>C rs199914308 0.00087
NM_000546.6(TP53):c.994-17C>T rs368691910 0.00087
NM_138694.4(PKHD1):c.9492C>T (p.Ser3164=) rs17752991 0.00084
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr) rs35516286 0.00083
NM_004329.3(BMPR1A):c.1327C>T (p.Arg443Cys) rs35619497 0.00081
NM_002691.4(POLD1):c.2565-17G>A rs200576676 0.00078
NM_000535.7(PMS2):c.2187C>G (p.Leu729=) rs373630535 0.00077
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_006231.4(POLE):c.6004+11A>G rs201591857 0.00071
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415 0.00069
NM_000455.5(STK11):c.597+14del rs536282050 0.00067
NM_004646.4(NPHS1):c.1339G>A (p.Glu447Lys) rs28939695 0.00067
NM_000179.3(MSH6):c.1665A>G (p.Ala555=) rs146785465 0.00066
NM_007294.4(BRCA1):c.2733A>G (p.Gly911=) rs1800740 0.00066
NM_007294.4(BRCA1):c.81-12C>G rs80358055 0.00066
NM_007294.4(BRCA1):c.981A>G (p.Thr327=) rs1800063 0.00065
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_000249.4(MLH1):c.375A>G (p.Ala125=) rs1800144 0.00062
NM_001164508.2(NEB):c.23241+16C>T rs75221580 0.00061
NM_002691.4(POLD1):c.3218+17G>A rs375490101 0.00061
NM_007294.4(BRCA1):c.4992C>T (p.Leu1664=) rs142459158 0.00061
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His) rs28897677 0.00060
NM_024675.4(PALB2):c.2996+17T>C rs180177128 0.00060
NM_000329.3(RPE65):c.48T>C (p.Phe16=) rs62642581 0.00059
NM_000179.3(MSH6):c.1869C>T (p.Pro623=) rs141242295 0.00058
NM_004360.5(CDH1):c.2104G>A (p.Glu702Lys) rs149127230 0.00058
NM_005609.4(PYGM):c.182G>A (p.Arg61His) rs145514333 0.00058
NM_138694.4(PKHD1):c.2194G>T (p.Val732Phe) rs201432731 0.00058
NM_004360.5(CDH1):c.2439+10C>T rs35236080 0.00057
NM_002691.4(POLD1):c.1138-8A>G rs41544624 0.00056
NM_033056.4(PCDH15):c.5398G>A (p.Val1800Ile) rs111033463 0.00056
NM_024675.4(PALB2):c.2749-18C>T rs182194007 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_007194.4(CHEK2):c.793-11G>A rs5997387 0.00054
NM_000038.6(APC):c.1240C>T (p.Arg414Cys) rs137854567 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_000035.4(ALDOB):c.799+11C>T rs182245025 0.00051
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys) rs140592056 0.00051
NM_000520.6(HEXA):c.-4G>A rs766510036 0.00050
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.9843A>G (p.Pro3281=) rs11571832 0.00047
NM_000455.5(STK11):c.1185A>G (p.Thr395=) rs370207155 0.00047
NM_058216.3(RAD51C):c.706-18T>C rs56401264 0.00047
NM_000051.4(ATM):c.1986T>C (p.Phe662=) rs1800055 0.00046
NM_000077.5(CDKN2A):c.273G>A (p.Leu91=) rs4987127 0.00045
NM_002485.5(NBN):c.1720T>A (p.Leu574Ile) rs142334798 0.00044
NM_004646.4(NPHS1):c.2869G>C (p.Val957Leu) rs114849139 0.00044
NM_000179.3(MSH6):c.3960A>G (p.Ala1320=) rs373425206 0.00042
NM_004360.5(CDH1):c.1138-3C>T rs36103202 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_002691.4(POLD1):c.3068-14C>T rs3218758 0.00041
NM_004360.5(CDH1):c.1239C>T (p.Tyr413=) rs36074916 0.00041
NM_020975.6(RET):c.1946C>T (p.Ser649Leu) rs148935214 0.00039
NM_000251.3(MSH2):c.1511-41G>C rs202215396 0.00038
NM_000520.6(HEXA):c.1435G>A (p.Ala479Thr) rs145012038 0.00038
NM_002878.4(RAD51D):c.904-11T>A rs374449943 0.00038
NM_004360.5(CDH1):c.808T>G (p.Ser270Ala) rs587776399 0.00038
NM_006231.4(POLE):c.2026+9C>T rs373790607 0.00038
NM_000059.4(BRCA2):c.9924C>T (p.Tyr3308=) rs4987049 0.00035
NM_000455.5(STK11):c.1284G>A (p.Ser428=) rs369097329 0.00035
NM_024675.4(PALB2):c.1470C>T (p.Pro490=) rs45612837 0.00035
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233 0.00034
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr) rs63750365 0.00034
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931 0.00034
NM_000038.6(APC):c.2232T>G (p.Ser744=) rs145751759 0.00032
NM_007194.4(CHEK2):c.1497G>C (p.Leu499=) rs587780890 0.00032
NM_000038.6(APC):c.4905G>A (p.Gly1635=) rs137988845 0.00031
NM_002485.5(NBN):c.1690G>A (p.Glu564Lys) rs72550742 0.00030
NM_002691.4(POLD1):c.3219-19C>A rs374168125 0.00029
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His) rs56012641 0.00029
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033 0.00029
NM_002878.4(RAD51D):c.216C>T (p.Tyr72=) rs148690585 0.00028
NM_004360.5(CDH1):c.303C>T (p.Tyr101=) rs150789339 0.00027
NM_007294.4(BRCA1):c.3713C>T (p.Pro1238Leu) rs28897688 0.00027
NM_152564.5(VPS13B):c.7366G>A (p.Val2456Ile) rs201963516 0.00027
NM_000059.4(BRCA2):c.1395A>C (p.Val465=) rs11571641 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_007194.4(CHEK2):c.444+19T>C rs200501745 0.00026
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675 0.00026
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_000546.6(TP53):c.704A>G (p.Asn235Ser) rs144340710 0.00025
NM_000038.6(APC):c.5274T>A (p.Ser1758=) rs199600387 0.00024
NM_000251.3(MSH2):c.1277-16T>C rs368653974 0.00024
NM_007294.4(BRCA1):c.4358-10C>T rs80358111 0.00024
NM_058195.4(CDKN2A):c.69C>T (p.Phe23=) rs374360796 0.00024
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561 0.00023
NM_002691.4(POLD1):c.1137+16C>T rs56082047 0.00023
NM_004646.4(NPHS1):c.65C>T (p.Ala22Val) rs116617171 0.00023
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755 0.00022
NM_004360.5(CDH1):c.2589C>T (p.Asn863=) rs115817750 0.00022
NM_007294.4(BRCA1):c.807G>A (p.Leu269=) rs149867679 0.00022
NM_000038.6(APC):c.1419G>A (p.Gln473=) rs141579422 0.00021
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755 0.00021
NM_005591.4(MRE11):c.1491C>T (p.Ile497=) rs199634245 0.00021
NM_005591.4(MRE11):c.845+11T>C rs140145979 0.00021
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys) rs28897683 0.00021
NM_024675.4(PALB2):c.1281T>C (p.Ala427=) rs138697796 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_000038.6(APC):c.2205G>A (p.Ala735=) rs141001261 0.00019
NM_000059.4(BRCA2):c.1123C>T (p.Pro375Ser) rs80358408 0.00019
NM_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys) rs55794205 0.00019
NM_000059.4(BRCA2):c.8905G>A (p.Val2969Met) rs59004709 0.00019
NM_000075.4(CDK4):c.306A>G (p.Thr102=) rs201202764 0.00019
NM_000465.4(BARD1):c.57G>A (p.Glu19=) rs730881406 0.00019
NM_006231.4(POLE):c.3378+10A>G rs193075152 0.00019
NM_007294.4(BRCA1):c.4484+14A>G rs80358022 0.00019
NM_138694.4(PKHD1):c.3984C>T (p.Val1328=) rs182468850 0.00019
NM_000038.6(APC):c.3374T>C (p.Val1125Ala) rs377278397 0.00018
NM_000059.4(BRCA2):c.7976+23C>T rs183623188 0.00018
NM_000455.5(STK11):c.618G>A (p.Ala206=) rs370976710 0.00018
NM_000546.6(TP53):c.74+14T>C rs184743157 0.00018
NM_007294.4(BRCA1):c.5406+33A>T rs80358092 0.00018
NM_002691.4(POLD1):c.2006+16C>T rs372942171 0.00017
NM_024675.4(PALB2):c.2135C>T (p.Ala712Val) rs141458731 0.00017
NM_000038.6(APC):c.6510A>C (p.Pro2170=) rs138571760 0.00016
NM_000038.6(APC):c.6669A>G (p.Ser2223=) rs372680843 0.00016
NM_000059.4(BRCA2):c.9649-20C>T rs56177715 0.00016
NM_000077.5(CDKN2A):c.384G>A (p.Arg128=) rs199901898 0.00016
NM_000179.3(MSH6):c.2925C>T (p.Asn975=) rs139026662 0.00016
NM_000314.8(PTEN):c.234C>T (p.Thr78=) rs35917308 0.00016
NM_024675.4(PALB2):c.1794G>A (p.Leu598=) rs182494675 0.00015
NM_000059.4(BRCA2):c.4061C>T (p.Thr1354Met) rs80358656 0.00014
NM_000546.6(TP53):c.672+18G>C rs199578278 0.00014
NM_020975.6(RET):c.1017G>A (p.Ser339=) rs369810881 0.00014
NM_024675.4(PALB2):c.2586+10A>G rs373321719 0.00014
NM_000038.6(APC):c.1548+17T>C rs367690523 0.00013
NM_000535.7(PMS2):c.255G>A (p.Leu85=) rs200491279 0.00013
NM_002691.4(POLD1):c.2251-8G>A rs56051075 0.00013
NM_007294.4(BRCA1):c.1911T>C (p.Thr637=) rs62625305 0.00013
NM_020975.6(RET):c.1893C>T (p.Asp631=) rs55846256 0.00013
NM_024675.4(PALB2):c.48+7G>C rs190626072 0.00013
NM_000038.6(APC):c.450A>G (p.Lys150=) rs116020626 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_000314.8(PTEN):c.1197A>G (p.Gln399=) rs374684043 0.00012
NM_001370259.2(MEN1):c.1409C>T (p.Pro470Leu) rs750112288 0.00012
NM_004360.5(CDH1):c.1409C>T (p.Thr470Ile) rs370864592 0.00012
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala) rs80357467 0.00012
NM_000059.4(BRCA2):c.9501+9A>C rs81002867 0.00011
NM_000251.3(MSH2):c.198C>T (p.Tyr66=) rs730881784 0.00011
NM_000455.5(STK11):c.1038C>T (p.Gly346=) rs767565606 0.00011
NM_001370259.2(MEN1):c.339C>T (p.Ser113=) rs559635859 0.00011
NM_002485.5(NBN):c.1914+10G>A rs577706448 0.00011
NM_006231.4(POLE):c.6658-7C>A rs531482240 0.00011
NM_007294.4(BRCA1):c.1065G>A (p.Lys355=) rs41286292 0.00011
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300 0.00011
NM_000059.4(BRCA2):c.8633-16C>G rs81002818 0.00010
NM_000179.3(MSH6):c.1875C>T (p.Ser625=) rs63749886 0.00010
NM_000314.8(PTEN):c.579G>A (p.Leu193=) rs568851024 0.00010
NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val) rs111033423 0.00010
NM_000455.5(STK11):c.787T>C (p.Leu263=) rs372378119 0.00010
NM_001370259.2(MEN1):c.492C>T (p.Ala164=) rs146759807 0.00010
NM_004360.5(CDH1):c.2451G>A (p.Ala817=) rs149450874 0.00010
NM_000038.6(APC):c.1958+10G>T rs375175370 0.00009
NM_000038.6(APC):c.2586C>G (p.Asn862Lys) rs147972247 0.00009
NM_000059.4(BRCA2):c.2538A>C (p.Ser846=) rs11571654 0.00009
NM_000059.4(BRCA2):c.4656T>C (p.Gly1552=) rs41293491 0.00009
NM_000059.4(BRCA2):c.6338A>G (p.Asn2113Ser) rs80358874 0.00009
NM_000251.3(MSH2):c.2802G>A (p.Thr934=) rs150259097 0.00009
NM_000251.3(MSH2):c.367-19A>T rs730881783 0.00009
NM_000465.4(BARD1):c.1059C>G (p.Pro353=) rs368649242 0.00009
NM_000546.6(TP53):c.6G>A (p.Glu2=) rs143458271 0.00009
NM_001370259.2(MEN1):c.655-4del rs748005956 0.00009
NM_004360.5(CDH1):c.1359C>T (p.His453=) rs114861467 0.00009
NM_007194.4(CHEK2):c.1095+19G>A rs200020484 0.00009
NM_007294.4(BRCA1):c.314A>G (p.Tyr105Cys) rs28897673 0.00009
NM_020975.6(RET):c.1530C>T (p.Ala510=) rs553492964 0.00009
NM_024675.4(PALB2):c.12T>C (p.Pro4=) rs567706422 0.00009
NM_024675.4(PALB2):c.1431C>T (p.Thr477=) rs515726068 0.00009
NM_024675.4(PALB2):c.1623G>A (p.Arg541=) rs745665968 0.00009
NM_000059.4(BRCA2):c.3420T>C (p.Ser1140=) rs118093942 0.00008
NM_000059.4(BRCA2):c.517-4C>G rs81002804 0.00008
NM_000251.3(MSH2):c.1488A>G (p.Leu496=) rs267607960 0.00008
NM_002691.4(POLD1):c.2718-4G>A rs755348897 0.00008
NM_004360.5(CDH1):c.1020G>A (p.Thr340=) rs61747632 0.00008
NM_006231.4(POLE):c.3378+7G>T rs755370377 0.00008
NM_000038.6(APC):c.934-14C>T rs778707022 0.00007
NM_000249.4(MLH1):c.1379A>C (p.Glu460Ala) rs202038499 0.00007
NM_000251.3(MSH2):c.1560A>G (p.Gly520=) rs63750820 0.00007
NM_000455.5(STK11):c.357C>T (p.Asn119=) rs372511774 0.00007
NM_000535.7(PMS2):c.384G>A (p.Ser128=) rs371342884 0.00007
NM_000038.6(APC):c.789T>A (p.Gly263=) rs767053295 0.00006
NM_000038.6(APC):c.7929A>G (p.Leu2643=) rs138796072 0.00006
NM_000059.4(BRCA2):c.1362A>G (p.Lys454=) rs55919657 0.00006
NM_000059.4(BRCA2):c.6325G>A (p.Val2109Ile) rs79456940 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_000249.4(MLH1):c.1104G>A (p.Ser368=) rs769364808 0.00006
NM_000249.4(MLH1):c.69A>G (p.Glu23=) rs63750555 0.00006
NM_000249.4(MLH1):c.954C>T (p.His318=) rs146777069 0.00006
NM_000251.3(MSH2):c.2400A>G (p.Leu800=) rs201298777 0.00006
NM_000314.8(PTEN):c.720C>T (p.Tyr240=) rs190070312 0.00006
NM_000455.5(STK11):c.921-10G>A rs183406870 0.00006
NM_000465.4(BARD1):c.722C>G (p.Ser241Cys) rs3738885 0.00006
NM_000492.4(CFTR):c.1519A>G (p.Ile507Val) rs1801178 0.00006
NM_000535.7(PMS2):c.477G>A (p.Val159=) rs147701251 0.00006
NM_007194.4(CHEK2):c.847-17T>C rs199780411 0.00006
NM_007294.4(BRCA1):c.1392C>T (p.Thr464=) rs533802049 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.5278-14C>G rs80358105 0.00006
NM_007294.4(BRCA1):c.795T>C (p.Ser265=) rs201441987 0.00006
NM_020975.6(RET):c.2409C>T (p.Ile803=) rs535051804 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_058216.3(RAD51C):c.336G>A (p.Gly112=) rs746122031 0.00006
NM_000038.6(APC):c.7878T>G (p.Thr2626=) rs757020188 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_000059.4(BRCA2):c.9275A>G (p.Tyr3092Cys) rs80359195 0.00005
NM_000179.3(MSH6):c.3399T>C (p.Thr1133=) rs61748084 0.00005
NM_000179.3(MSH6):c.3513T>C (p.Asp1171=) rs63749834 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_000455.5(STK11):c.237C>T (p.Ile79=) rs751859508 0.00005
NM_000455.5(STK11):c.366G>A (p.Lys122=) rs376969448 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_000535.7(PMS2):c.738C>G (p.Pro246=) rs202094399 0.00005
NM_001048174.2(MUTYH):c.630C>T (p.Asn210=) rs767327888 0.00005
NM_002691.4(POLD1):c.2717+14C>T rs367945387 0.00005
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr) rs80357102 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_000038.6(APC):c.2838A>G (p.Thr946=) rs142835322 0.00004
NM_000038.6(APC):c.3552C>T (p.Ala1184=) rs759407858 0.00004
NM_000038.6(APC):c.4416A>T (p.Val1472=) rs773352404 0.00004
NM_000038.6(APC):c.8325G>A (p.Gly2775=) rs770719841 0.00004
NM_000059.4(BRCA2):c.10222A>T (p.Lys3408Ter) rs80358402 0.00004
NM_000059.4(BRCA2):c.5752C>T (p.His1918Tyr) rs80358803 0.00004
NM_000179.3(MSH6):c.2904C>G (p.Val968=) rs150683226 0.00004
NM_000179.3(MSH6):c.3729A>G (p.Thr1243=) rs773807182 0.00004
NM_000249.4(MLH1):c.1269G>A (p.Arg423=) rs373076967 0.00004
NM_000249.4(MLH1):c.1284T>C (p.Asp428=) rs772555970 0.00004
NM_000249.4(MLH1):c.2252A>G (p.Lys751Arg) rs140195825 0.00004
NM_000249.4(MLH1):c.579A>G (p.Ser193=) rs587781038 0.00004
NM_000251.3(MSH2):c.336C>A (p.Ser112=) rs34312619 0.00004
NM_000455.5(STK11):c.432G>A (p.Pro144=) rs376788924 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_000546.6(TP53):c.1149C>T (p.Leu383=) rs373710656 0.00004
NM_000546.6(TP53):c.255T>C (p.Pro85=) rs775515332 0.00004
NM_002691.4(POLD1):c.1383+8C>T rs374719944 0.00004
NM_002691.4(POLD1):c.2718-5C>T rs368965066 0.00004
NM_002878.4(RAD51D):c.145-14G>C rs200470533 0.00004
NM_004168.4(SDHA):c.513T>C (p.Arg171=) rs765157205 0.00004
NM_004360.5(CDH1):c.1224G>A (p.Ala408=) rs200161607 0.00004
NM_004360.5(CDH1):c.2165-15C>A rs552874184 0.00004
NM_007194.4(CHEK2):c.15G>A (p.Ser5=) rs145183886 0.00004
NM_007194.4(CHEK2):c.847-10C>G rs745745105 0.00004
NM_007294.4(BRCA1):c.1511G>A (p.Arg504His) rs56272539 0.00004
NM_020975.6(RET):c.1118C>T (p.Ala373Val) rs546866208 0.00004
NM_024675.4(PALB2):c.2067G>A (p.Ser689=) rs371149159 0.00004
NM_024675.4(PALB2):c.2082A>G (p.Thr694=) rs781440401 0.00004
NM_024675.4(PALB2):c.900A>G (p.Thr300=) rs771660444 0.00004
NM_000016.6(ACADM):c.118+18T>A rs755405418 0.00003
NM_000038.6(APC):c.1686G>A (p.Thr562=) rs770256026 0.00003
NM_000038.6(APC):c.477C>T (p.Tyr159=) rs863224281 0.00003
NM_000038.6(APC):c.6945A>G (p.Gln2315=) rs786201348 0.00003
NM_000059.4(BRCA2):c.3682A>G (p.Asn1228Asp) rs28897722 0.00003
NM_000059.4(BRCA2):c.4670C>G (p.Thr1557Ser) rs80358698 0.00003
NM_000059.4(BRCA2):c.632-16A>C rs81002905 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_000071.3(CBS):c.1316G>A (p.Arg439Gln) rs756467921 0.00003
NM_000075.4(CDK4):c.549C>T (p.Pro183=) rs778696237 0.00003
NM_000179.3(MSH6):c.2319C>T (p.Leu773=) rs63749895 0.00003
NM_000179.3(MSH6):c.240A>G (p.Val80=) rs864622281 0.00003
NM_000179.3(MSH6):c.3426G>A (p.Thr1142=) rs747771350 0.00003
NM_000179.3(MSH6):c.393A>C (p.Val131=) rs752488540 0.00003
NM_000249.4(MLH1):c.1743G>A (p.Pro581=) rs567838745 0.00003
NM_000251.3(MSH2):c.2006-26dup rs781614743 0.00003
NM_000251.3(MSH2):c.211+8C>T rs267607916 0.00003
NM_000251.3(MSH2):c.2205C>T (p.Ile735=) rs533553381 0.00003
NM_000251.3(MSH2):c.2458+8C>G rs189025757 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_000455.5(STK11):c.876C>T (p.Tyr292=) rs148928808 0.00003
NM_000546.6(TP53):c.180A>C (p.Pro60=) rs749289195 0.00003
NM_000546.6(TP53):c.30C>T (p.Val10=) rs568171603 0.00003
NM_001370259.2(MEN1):c.1170G>A (p.Pro390=) rs587780841 0.00003
NM_004360.5(CDH1):c.1161C>T (p.Asn387=) rs111266450 0.00003
NM_004360.5(CDH1):c.1173C>T (p.Val391=) rs148080550 0.00003
NM_007294.4(BRCA1):c.811G>A (p.Val271Met) rs80357244 0.00003
NM_020975.6(RET):c.2298G>A (p.Pro766=) rs140658743 0.00003
NM_024675.4(PALB2):c.1272C>T (p.Ala424=) rs754720030 0.00003
NM_024675.4(PALB2):c.2208C>A (p.Ala736=) rs369113809 0.00003
NM_000038.6(APC):c.5271T>C (p.Ser1757=) rs752875511 0.00002
NM_000038.6(APC):c.7821C>T (p.Ser2607=) rs532235331 0.00002
NM_000059.4(BRCA2):c.1820A>C (p.Lys607Thr) rs55962656 0.00002
NM_000059.4(BRCA2):c.7534C>T (p.Leu2512Phe) rs80358980 0.00002
NM_000059.4(BRCA2):c.8027T>C (p.Met2676Thr) rs80359038 0.00002
NM_000077.5(CDKN2A):c.150+20C>T rs550846229 0.00002
NM_000179.3(MSH6):c.2241G>A (p.Leu747=) rs377722465 0.00002
NM_000179.3(MSH6):c.2508C>T (p.Asn836=) rs758170249 0.00002
NM_000179.3(MSH6):c.321T>C (p.Pro107=) rs730881823 0.00002
NM_000179.3(MSH6):c.4062G>T (p.Leu1354=) rs863224335 0.00002
NM_000251.3(MSH2):c.1854A>G (p.Pro618=) rs786203744 0.00002
NM_000251.3(MSH2):c.2061C>G (p.Leu687=) rs63750032 0.00002
NM_000251.3(MSH2):c.42G>A (p.Ala14=) rs374396150 0.00002
NM_000251.3(MSH2):c.438T>C (p.Gly146=) rs587779161 0.00002
NM_000251.3(MSH2):c.762T>C (p.Asn254=) rs587779180 0.00002
NM_000455.5(STK11):c.1109-14C>T rs780434041 0.00002
NM_000455.5(STK11):c.828C>T (p.Gly276=) rs200824447 0.00002
NM_000546.6(TP53):c.234A>G (p.Ala78=) rs375099397 0.00002
NM_000546.6(TP53):c.249G>A (p.Ala83=) rs55754907 0.00002
NM_003000.3(SDHB):c.765+13G>A rs115561881 0.00002
NM_004360.5(CDH1):c.1488C>T (p.Ser496=) rs751346548 0.00002
NM_004360.5(CDH1):c.510A>G (p.Pro170=) rs774962542 0.00002
NM_007194.4(CHEK2):c.793-17T>C rs778511901 0.00002
NM_007294.4(BRCA1):c.1001C>T (p.Pro334Leu) rs41286290 0.00002
NM_007294.4(BRCA1):c.3130A>G (p.Ile1044Val) rs80357271 0.00002
NM_007294.4(BRCA1):c.4097-11T>C rs80358072 0.00002
NM_007294.4(BRCA1):c.4955T>C (p.Met1652Thr) rs80356968 0.00002
NM_007294.4(BRCA1):c.5175A>G (p.Glu1725=) rs191373374 0.00002
NM_007294.4(BRCA1):c.891G>A (p.Met297Ile) rs80357103 0.00002
NM_024675.4(PALB2):c.1839G>A (p.Gln613=) rs199682414 0.00002
NM_024675.4(PALB2):c.807T>C (p.Gly269=) rs180177093 0.00002
NM_024675.4(PALB2):c.897T>C (p.Ser299=) rs180177095 0.00002
NM_000038.6(APC):c.228C>T (p.Asn76=) rs766325173 0.00001
NM_000038.6(APC):c.3555A>G (p.Thr1185=) rs786201125 0.00001
NM_000038.6(APC):c.3909A>G (p.Gln1303=) rs746289994 0.00001
NM_000038.6(APC):c.4005C>T (p.Ser1335=) rs751729992 0.00001
NM_000038.6(APC):c.4311A>G (p.Lys1437=) rs371784771 0.00001
NM_000038.6(APC):c.5805G>A (p.Gln1935=) rs377040690 0.00001
NM_000038.6(APC):c.597G>A (p.Ala199=) rs587780601 0.00001
NM_000038.6(APC):c.7533C>T (p.Leu2511=) rs1057522957 0.00001
NM_000038.6(APC):c.8100T>C (p.Asn2700=) rs761326128 0.00001
NM_000038.6(APC):c.993G>A (p.Ser331=) rs148343173 0.00001
NM_000059.4(BRCA2):c.10111A>G (p.Thr3371Ala) rs80358393 0.00001
NM_000059.4(BRCA2):c.1218C>G (p.Ala406=) rs276174807 0.00001
NM_000059.4(BRCA2):c.2416G>C (p.Asp806His) rs56404215 0.00001
NM_000059.4(BRCA2):c.3675A>G (p.Thr1225=) rs276174835 0.00001
NM_000059.4(BRCA2):c.53G>A (p.Arg18His) rs80358762 0.00001
NM_000059.4(BRCA2):c.6131G>T (p.Gly2044Val) rs56191579 0.00001
NM_000059.4(BRCA2):c.7232A>C (p.Lys2411Thr) rs80358950 0.00001
NM_000059.4(BRCA2):c.964A>C (p.Lys322Gln) rs11571640 0.00001
NM_000179.3(MSH6):c.1170T>C (p.Asp390=) rs55882234 0.00001
NM_000179.3(MSH6):c.1209C>G (p.Leu403=) rs748603803 0.00001
NM_000179.3(MSH6):c.161G>C (p.Gly54Ala) rs63751098 0.00001
NM_000179.3(MSH6):c.1677C>T (p.Cys559=) rs63749893 0.00001
NM_000179.3(MSH6):c.1740G>A (p.Ser580=) rs762089407 0.00001
NM_000179.3(MSH6):c.1776A>T (p.Val592=) rs56132616 0.00001
NM_000179.3(MSH6):c.2035T>C (p.Leu679=) rs757741943 0.00001
NM_000179.3(MSH6):c.2154C>T (p.Ser718=) rs771662801 0.00001
NM_000179.3(MSH6):c.2400T>C (p.Val800=) rs267608071 0.00001
NM_000179.3(MSH6):c.2982C>T (p.Tyr994=) rs367758473 0.00001
NM_000179.3(MSH6):c.3084A>T (p.Ser1028=) rs786201843 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.333C>T (p.Tyr111=) rs786202772 0.00001
NM_000179.3(MSH6):c.363C>T (p.Arg121=) rs587779276 0.00001
NM_000179.3(MSH6):c.3936T>C (p.Val1312=) rs61753796 0.00001
NM_000179.3(MSH6):c.87C>G (p.Arg29=) rs778354962 0.00001
NM_000249.4(MLH1):c.1039-5T>C rs587782626 0.00001
NM_000249.4(MLH1):c.1731+8T>C rs370108219 0.00001
NM_000249.4(MLH1):c.1896+7C>T rs863224339 0.00001
NM_000249.4(MLH1):c.2172G>A (p.Leu724=) rs780045031 0.00001
NM_000249.4(MLH1):c.636C>T (p.Thr212=) rs138735345 0.00001
NM_000249.4(MLH1):c.791-14T>C rs751254837 0.00001
NM_000251.3(MSH2):c.1077-15G>T rs753277524 0.00001
NM_000251.3(MSH2):c.115C>A (p.Arg39=) rs786202334 0.00001
NM_000251.3(MSH2):c.1311G>T (p.Val437=) rs730881781 0.00001
NM_000251.3(MSH2):c.459C>T (p.Ser153=) rs63751065 0.00001
NM_000251.3(MSH2):c.972G>A (p.Gln324=) rs63750505 0.00001
NM_000314.8(PTEN):c.210-9T>C rs751744545 0.00001
NM_000314.8(PTEN):c.738G>A (p.Pro246=) rs774364894 0.00001
NM_000455.5(STK11):c.1137C>T (p.His379=) rs786201505 0.00001
NM_000455.5(STK11):c.318G>A (p.Arg106=) rs777784520 0.00001
NM_000455.5(STK11):c.594C>T (p.Ala198=) rs772940660 0.00001
NM_000455.5(STK11):c.621C>T (p.Asp207=) rs569380138 0.00001
NM_000455.5(STK11):c.957A>G (p.Pro319=) rs755126393 0.00001
NM_000492.4(CFTR):c.3771T>G (p.Phe1257Leu) rs397508607 0.00001
NM_000546.6(TP53):c.1023C>T (p.Phe341=) rs864622369 0.00001
NM_000546.6(TP53):c.222C>T (p.Ala74=) rs786201577 0.00001
NM_000546.6(TP53):c.408A>G (p.Gln136=) rs758781593 0.00001
NM_000546.6(TP53):c.885T>C (p.Pro295=) rs200073907 0.00001
NM_002691.4(POLD1):c.2565-13C>T rs559638270 0.00001
NM_002878.4(RAD51D):c.198G>T (p.Val66=) rs200810304 0.00001
NM_004360.5(CDH1):c.1266A>G (p.Gln422=) rs776805501 0.00001
NM_004360.5(CDH1):c.1500C>T (p.Gly500=) rs781317341 0.00001
NM_004360.5(CDH1):c.582C>T (p.Gly194=) rs786202924 0.00001
NM_004360.5(CDH1):c.867G>A (p.Ala289=) rs754143182 0.00001
NM_007194.4(CHEK2):c.1287G>A (p.Glu429=) rs758102180 0.00001
NM_007194.4(CHEK2):c.1590C>T (p.Ala530=) rs786201796 0.00001
NM_007194.4(CHEK2):c.573G>C (p.Leu191=) rs786201267 0.00001
NM_007294.4(BRCA1):c.1401G>A (p.Lys467=) rs786201323 0.00001
NM_007294.4(BRCA1):c.1797T>C (p.Asn599=) rs756211343 0.00001
NM_007294.4(BRCA1):c.4097-10G>A rs80358057 0.00001
NM_007294.4(BRCA1):c.4204C>T (p.His1402Tyr) rs80357365 0.00001
NM_007294.4(BRCA1):c.4347A>G (p.Thr1449=) rs80356840 0.00001
NM_007294.4(BRCA1):c.5153-13A>G rs45471406 0.00001
NM_007294.4(BRCA1):c.5333A>G (p.Asp1778Gly) rs80357041 0.00001
NM_020975.6(RET):c.2070C>T (p.Ser690=) rs201550433 0.00001
NM_020975.6(RET):c.2715C>T (p.Tyr905=) rs755023496 0.00001
NM_024675.4(PALB2):c.1311A>G (p.Lys437=) rs190489275 0.00001
NM_024675.4(PALB2):c.1662A>G (p.Glu554=) rs786202692 0.00001
NM_024675.4(PALB2):c.195G>A (p.Pro65=) rs751176316 0.00001
NM_024675.4(PALB2):c.2478C>T (p.Asn826=) rs786201885 0.00001
NM_024675.4(PALB2):c.2508C>G (p.Val836=) rs786203603 0.00001
NM_024675.4(PALB2):c.2859T>C (p.Asp953=) rs515726101 0.00001
NM_024675.4(PALB2):c.3282G>A (p.Val1094=) rs747861082 0.00001
NM_024675.4(PALB2):c.3366C>T (p.Asp1122=) rs373783514 0.00001
NM_024675.4(PALB2):c.3483T>C (p.Phe1161=) rs372686500 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.84C>T (p.Tyr28=) rs761533286 0.00001
NM_024675.4(PALB2):c.993A>G (p.Glu331=) rs760362870 0.00001
NM_058216.3(RAD51C):c.141C>T (p.Ser47=) rs568912602 0.00001
NM_000018.4(ACADVL):c.1434+14T>A rs202217537
NM_000027.4(AGA):c.34G>T (p.Val12Leu) rs74626221
NM_000038.6(APC):c.1958+27del rs1402242990
NM_000038.6(APC):c.2196T>C (p.Asn732=) rs781693283
NM_000038.6(APC):c.2385C>T (p.Leu795=) rs80188155
NM_000038.6(APC):c.3612A>G (p.Gln1204=) rs864622196
NM_000038.6(APC):c.5250C>T (p.Val1750=) rs2229997
NM_000038.6(APC):c.6474C>A (p.Pro2158=) rs772027192
NM_000051.4(ATM):c.1020C>A (p.Ala340=) rs546927781
NM_000051.4(ATM):c.2805G>C (p.Thr935=) rs55934812
NM_000059.4(BRCA2):c.1460C>A (p.Ala487Glu) rs56390402
NM_000059.4(BRCA2):c.2926_2927delinsAT (p.Ser976Ile) rs276174831
NM_000059.4(BRCA2):c.6465C>T (p.Leu2155=) rs746099644
NM_000059.4(BRCA2):c.68-7dup rs276174878
NM_000059.4(BRCA2):c.7224A>G (p.Pro2408=) rs276174891
NM_000059.4(BRCA2):c.956A>C (p.Asn319Thr) rs55939572
NM_000179.3(MSH6):c.1347G>A (p.Leu449=) rs786201760
NM_000179.3(MSH6):c.1560T>C (p.Gly520=) rs762396230
NM_000179.3(MSH6):c.2187C>T (p.Ala729=) rs375610656
NM_000179.3(MSH6):c.2194C>A (p.Arg732=) rs63751127
NM_000179.3(MSH6):c.249T>G (p.Ala83=) rs876658308
NM_000179.3(MSH6):c.255C>A (p.Pro85=) rs587779242
NM_000179.3(MSH6):c.3173-18T>C rs189672273
NM_000179.3(MSH6):c.3246G>A (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.3246G>C (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.3261C>T (p.Pro1087=) rs370226185
NM_000179.3(MSH6):c.3792A>C (p.Leu1264=) rs786202051
NM_000179.3(MSH6):c.3852G>T (p.Thr1284=) rs2229018
NM_000179.3(MSH6):c.4001+4_4001+8dup rs587782853
NM_000249.3(MLH1):c.-107C>G rs587778886
NM_000249.4(MLH1):c.1210C>T (p.Leu404=) rs1057517538
NM_000249.4(MLH1):c.1266C>T (p.Gly422=) rs63750791
NM_000249.4(MLH1):c.18G>A (p.Gly6=) rs786202312
NM_000249.4(MLH1):c.2040C>T (p.Cys680=) rs63749867
NM_000249.4(MLH1):c.2088C>G (p.Thr696=) rs1060504015
NM_000249.4(MLH1):c.705T>C (p.Asp235=) rs876658869
NM_000249.4(MLH1):c.927C>T (p.Pro309=) rs63749896
NM_000251.3(MSH2):c.108T>C (p.Leu36=) rs876659034
NM_000251.3(MSH2):c.2005+8dup rs267607992
NM_000251.3(MSH2):c.606C>T (p.Pro202=) rs63750600
NM_000251.3(MSH2):c.6G>T (p.Ala2=) rs368270856
NM_000314.8(PTEN):c.493-12dup rs756623620
NM_000329.3(RPE65):c.1302G>A (p.Ala434=) rs62636301
NM_000329.3(RPE65):c.1302G>C (p.Ala434=) rs62636301
NM_000455.5(STK11):c.1041G>A (p.Ala347=) rs537906142
NM_000455.5(STK11):c.1062C>T (p.Phe354=) rs59912467
NM_000455.5(STK11):c.120C>T (p.Arg40=) rs878853984
NM_000455.5(STK11):c.464+20del rs730881960
NM_000455.5(STK11):c.537G>A (p.Pro179=) rs528535500
NM_000455.5(STK11):c.597+21dup rs534445875
NM_000455.5(STK11):c.920+7G>A rs2075607
NM_000455.5(STK11):c.96C>G (p.Thr32=) rs79175212
NM_000465.4(BARD1):c.1811-16dup rs760333316
NM_000465.4(BARD1):c.2191C>G (p.Arg731Gly) rs76744638
NM_000465.4(BARD1):c.365-8del rs776103948
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000520.6(HEXA):c.1421+13dup rs780193130
NM_000520.6(HEXA):c.1421+15G>C rs185764548
NM_000535.7(PMS2):c.1344A>G (p.Gly448=) rs759192470
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.789G>A (p.Leu263=) rs755394319
NM_000546.6(TP53):c.666G>T (p.Pro222=) rs72661118
NM_001142800.2(EYS):c.9342TGT[1] (p.Val3116del) rs536788112
NM_001369.3(DNAH5):c.1090-8T>C rs16902950
NM_001370259.2(MEN1):c.655-5dup rs772016629
NM_001370658.1(BTD):c.152T>C (p.Leu51Pro) rs397514333
NM_001384474.1(LOXHD1):c.2816AGA[3] (p.Lys942del) rs142960762
NM_001953.4(TYMP):c.929-6_929-3del rs201685922
NM_002485.5(NBN):c.758C>T (p.Thr253Ile) rs61754967
NM_002691.4(POLD1):c.1384-13C>G rs536467012
NM_002691.4(POLD1):c.1494+5C>T rs565428379
NM_002691.4(POLD1):c.3218+9_3218+10inv
NM_002691.4(POLD1):c.463+8_463+9delinsTT rs796285537
NM_002878.4(RAD51D):c.757C>A (p.Arg253=) rs137886232
NM_004360.5(CDH1):c.1308G>A (p.Leu436=) rs557551011
NM_004360.5(CDH1):c.1416C>T (p.Thr472=) rs139937234
NM_004360.5(CDH1):c.300C>G (p.Val100=) rs786201463
NM_004646.4(NPHS1):c.3418C>A (p.Arg1140Ser) rs143092783
NM_005732.4(RAD50):c.3164+14del rs148895884
NM_006231.4(POLE):c.4150-12T>C rs551697046
NM_007194.4(CHEK2):c.135G>A (p.Thr45=) rs745423387
NM_007194.4(CHEK2):c.474A>G (p.Ala158=) rs745699485
NM_007194.4(CHEK2):c.84C>A (p.Ser28=) rs863224415
NM_007194.4(CHEK2):c.909-28_909-20del rs1555915597
NM_007294.4(BRCA1):c.1106_1108del (p.Asp369del) rs80358325
NM_007294.4(BRCA1):c.1843TCT[1] (p.Ser616del) rs80358329
NM_007294.4(BRCA1):c.2232T>C (p.Ala744=) rs4986846
NM_007294.4(BRCA1):c.3600G>C (p.Gln1200His) rs56214134
NM_007294.4(BRCA1):c.4185+10G>A rs80358104
NM_007294.4(BRCA1):c.4186-10G>A rs80358172
NM_007294.4(BRCA1):c.42C>T (p.Val14=) rs80356827
NM_007294.4(BRCA1):c.5095C>A (p.Arg1699=) rs55770810
NM_007294.4(BRCA1):c.548-9del rs273902774
NM_007294.4(BRCA1):c.81-13C>G rs56328013
NM_007294.4(BRCA1):c.81-20C>T rs80358039
NM_007294.4(BRCA1):c.823G>A (p.Gly275Ser) rs8176153
NM_015166.4(MLC1):c.654C>A (p.Asn218Lys) rs41302601
NM_020533.3(MCOLN1):c.777+12dup rs563339019
NM_020975.6(RET):c.2523G>A (p.Pro841=) rs56195026
NM_024675.4(PALB2):c.18G>A (p.Gly6=) rs587782462
NM_024675.4(PALB2):c.2067G>T (p.Ser689=) rs371149159
NM_024675.4(PALB2):c.212-24TA[4] rs751741705
NM_024675.4(PALB2):c.2130G>A (p.Thr710=) rs774049060
NM_024675.4(PALB2):c.2469C>G (p.Leu823=) rs515726087
NM_024675.4(PALB2):c.2607C>T (p.Ser869=) rs45542234
NM_024675.4(PALB2):c.2749-16_2749-14del rs765742648
NM_024675.4(PALB2):c.423G>A (p.Gln141=) rs786202680
NM_024675.4(PALB2):c.999C>T (p.Thr333=) rs180177096
NM_138694.4(PKHD1):c.7351-21dup rs768522482
NM_152564.5(VPS13B):c.1206+19_1206+34del rs750619814

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