ClinVar Miner

List of variants studied for Hereditary cancer-predisposing syndrome by True Health Diagnostics

Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 589
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HGVS dbSNP gnomAD frequency
NM_000179.3(MSH6):c.642C>T (p.Tyr214=) rs1800937 0.07457
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn) rs4986850 0.05782
NM_006231.4(POLE):c.4444+4T>A rs5744941 0.05640
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_002691.4(POLD1):c.1548C>T (p.Ala516=) rs2230247 0.04514
NM_002691.4(POLD1):c.1539G>A (p.Leu513=) rs2230246 0.04513
NM_004329.3(BMPR1A):c.435G>A (p.Pro145=) rs11818239 0.04296
NM_007194.4(CHEK2):c.252A>G (p.Glu84=) rs1805129 0.04009
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426 0.03864
NM_002691.4(POLD1):c.1860G>A (p.Thr620=) rs1726790 0.03590
NM_002691.4(POLD1):c.234C>G (p.Arg78=) rs2228665 0.03571
NM_004360.5(CDH1):c.48+5C>G rs77312180 0.03370
NM_000051.4(ATM):c.4578C>T (p.Pro1526=) rs1800889 0.03196
NM_002691.4(POLD1):c.518G>A (p.Ser173Asn) rs1726803 0.03166
NM_000038.6(APC):c.7704A>G (p.Gly2568=) rs35043160 0.02992
NM_000051.4(ATM):c.657T>C (p.Cys219=) rs2235003 0.02841
NM_002354.3(EPCAM):c.492-5T>C rs78608315 0.02826
NM_002691.4(POLD1):c.1173C>T (p.Asp391=) rs2230244 0.02764
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_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_002354.3(EPCAM):c.859-7C>T rs72882786 0.02290
NM_000051.4(ATM):c.5497-8T>C rs3092829 0.02183
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_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_000077.5(CDKN2A):c.442G>A (p.Ala148Thr) rs3731249 0.02007
NM_000051.4(ATM):c.1541G>A (p.Gly514Asp) rs2235000 0.01889
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117 0.01834
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_000051.4(ATM):c.2193C>T (p.Tyr731=) rs2229019 0.01543
NM_000051.4(ATM):c.1636C>G (p.Leu546Val) rs2227924 0.01541
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_000051.4(ATM):c.3161C>G (p.Pro1054Arg) rs1800057 0.01452
NM_006231.4(POLE):c.2550C>T (p.Ile850=) rs5744834 0.01438
NM_006231.4(POLE):c.6418G>A (p.Glu2140Lys) rs5745066 0.01416
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.2614C>T (p.Pro872Ser) rs3218673 0.01393
NM_000051.4(ATM):c.2685A>G (p.Leu895=) rs3218687 0.01393
NM_000179.3(MSH6):c.1164C>T (p.His388=) rs55708305 0.01384
NM_000179.3(MSH6):c.2272C>T (p.Leu758=) rs56371757 0.01363
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967 0.01348
NM_006231.4(POLE):c.91G>T (p.Ala31Ser) rs34047482 0.01320
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_000051.4(ATM):c.3118A>G (p.Met1040Val) rs3092857 0.01233
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.1039-8T>A rs193922367 0.01153
NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe) rs1800058 0.01150
NM_006231.4(POLE):c.2174-8G>A rs117409343 0.01137
NM_000038.6(APC):c.7201C>T (p.Leu2401=) rs2229994 0.01134
NM_000251.3(MSH2):c.2766T>C (p.Phe922=) rs55859129 0.01118
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_000535.7(PMS2):c.1557T>C (p.Tyr519=) rs6972869 0.01065
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945 0.01054
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_000059.4(BRCA2):c.7319A>G (p.His2440Arg) rs4986860 0.00984
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_006231.4(POLE):c.2928C>T (p.Arg976=) rs5744845 0.00958
NM_002485.5(NBN):c.797C>T (p.Pro266Leu) rs769420 0.00955
NM_006231.4(POLE):c.5583A>C (p.Ser1861=) rs5744972 0.00949
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_000249.4(MLH1):c.1959G>T (p.Leu653=) rs1800146 0.00913
NM_006231.4(POLE):c.5804G>A (p.Cys1935Tyr) rs5744991 0.00898
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_000546.6(TP53):c.97-6C>T rs35117667 0.00847
NM_002485.5(NBN):c.2146A>G (p.Asn716Asp) rs72563785 0.00830
NM_000249.4(MLH1):c.637G>A (p.Val213Met) rs2308317 0.00818
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769 0.00809
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_002485.5(NBN):c.37+5G>A rs116735828 0.00767
NM_000051.4(ATM):c.544G>C (p.Val182Leu) rs3218707 0.00757
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_000038.6(APC):c.5265G>A (p.Ala1755=) rs34506289 0.00675
NM_002691.4(POLD1):c.2546G>A (p.Arg849His) rs3218775 0.00670
NM_000051.4(ATM):c.6995T>C (p.Leu2332Pro) rs4988111 0.00660
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317 0.00653
NM_000455.5(STK11):c.369G>A (p.Gln123=) rs140112347 0.00636
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_006231.4(POLE):c.776G>A (p.Arg259His) rs61732929 0.00604
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_000038.6(APC):c.1959G>A (p.Arg653=) rs72541809 0.00583
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166 0.00570
NM_000179.3(MSH6):c.1186C>G (p.Leu396Val) rs2020908 0.00565
NM_000535.7(PMS2):c.1569C>G (p.Ser523=) rs141458772 0.00560
NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser) rs17886163 0.00555
NM_006231.4(POLE):c.6494G>A (p.Arg2165His) rs5745068 0.00550
NM_001048174.2(MUTYH):c.421-4A>G rs201678305 0.00541
NM_000077.5(CDKN2A):c.379G>T (p.Ala127Ser) rs6413464 0.00527
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_000038.6(APC):c.1958+8T>C rs62626346 0.00510
NM_000251.3(MSH2):c.984C>T (p.Ala328=) rs4987189 0.00495
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734 0.00488
NM_000251.3(MSH2):c.1666T>C (p.Leu556=) rs61756466 0.00471
NM_002878.4(RAD51D):c.695G>A (p.Arg232Gln) rs28363283 0.00457
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_006231.4(POLE):c.6817A>T (p.Thr2273Ser) rs73481453 0.00444
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val) rs1801673 0.00441
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689 0.00419
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg) rs55953736 0.00396
NM_000051.4(ATM):c.1176C>G (p.Gly392=) rs1800727 0.00388
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys) rs4988345 0.00363
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys) rs72541816 0.00358
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_000535.7(PMS2):c.1266G>A (p.Glu422=) rs138049175 0.00348
NM_006231.4(POLE):c.5135C>T (p.Ala1712Val) rs5744950 0.00346
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_000059.4(BRCA2):c.1275A>G (p.Glu425=) rs34355306 0.00335
NM_006231.4(POLE):c.4259C>T (p.Ala1420Val) rs41561818 0.00325
NM_058216.3(RAD51C):c.186A>G (p.Gln62=) rs28363303 0.00322
NM_006231.4(POLE):c.123G>A (p.Thr41=) rs5744734 0.00320
NM_000251.3(MSH2):c.339G>A (p.Lys113=) rs35898375 0.00313
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_024675.4(PALB2):c.1419A>C (p.Pro473=) rs62625275 0.00309
NM_000038.6(APC):c.3471G>A (p.Glu1157=) rs143927847 0.00308
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485 0.00307
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile) rs4988346 0.00305
NM_004656.4(BAP1):c.1026C>T (p.Ser342=) rs71651686 0.00304
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val) rs55907433 0.00297
NM_002691.4(POLD1):c.783C>T (p.Val261=) rs34269084 0.00296
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724 0.00295
NM_002691.4(POLD1):c.778A>G (p.Ile260Val) rs8105725 0.00295
NM_006231.4(POLE):c.16G>C (p.Gly6Arg) rs202220778 0.00293
NM_006231.4(POLE):c.846C>T (p.Pro282=) rs5744758 0.00291
NM_002691.4(POLD1):c.1977C>T (p.Ile659=) rs45605236 0.00290
NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser) rs45568339 0.00287
NM_000038.6(APC):c.3165A>T (p.Ile1055=) rs61734287 0.00286
NM_000059.4(BRCA2):c.68-7T>A rs81002830 0.00277
NM_032043.3(BRIP1):c.2097+7G>A rs4988352 0.00271
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954 0.00268
NM_005359.6(SMAD4):c.354G>A (p.Ala118=) rs145988618 0.00268
NM_002485.5(NBN):c.381T>C (p.Ala127=) rs61754795 0.00266
NM_000051.4(ATM):c.2362A>C (p.Ser788Arg) rs641252 0.00265
NM_004360.5(CDH1):c.1680G>C (p.Thr560=) rs35741240 0.00261
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His) rs35029074 0.00260
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser) rs143638171 0.00250
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_004360.5(CDH1):c.345G>A (p.Thr115=) rs1801023 0.00236
NM_007294.4(BRCA1):c.114G>A (p.Lys38=) rs1800062 0.00233
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=) rs1799952 0.00228
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=) rs1801250 0.00228
NM_002354.3(EPCAM):c.515C>T (p.Thr172Met) rs74531854 0.00220
NM_000038.6(APC):c.705A>G (p.Leu235=) rs147036141 0.00213
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp) rs4986845 0.00209
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_006231.4(POLE):c.5334C>T (p.Ala1778=) rs11146986 0.00205
NM_000051.4(ATM):c.162T>C (p.Tyr54=) rs3218690 0.00200
NM_006231.4(POLE):c.2106G>T (p.Gly702=) rs5744801 0.00198
NM_002691.4(POLD1):c.56G>A (p.Arg19His) rs3218773 0.00197
NM_002354.3(EPCAM):c.5C>T (p.Ala2Val) rs201402370 0.00192
NM_004329.3(BMPR1A):c.777G>A (p.Ala259=) rs56108371 0.00192
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_000051.4(ATM):c.1229T>C (p.Val410Ala) rs56128736 0.00186
NM_000251.3(MSH2):c.23C>T (p.Thr8Met) rs17217716 0.00184
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710 0.00182
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169 0.00177
NM_000059.4(BRCA2):c.1798T>C (p.Tyr600His) rs75419644 0.00170
NM_006231.4(POLE):c.4523G>A (p.Arg1508His) rs142508245 0.00170
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059 0.00169
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_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_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_007294.4(BRCA1):c.1137T>G (p.Ile379Met) rs56128296 0.00158
NM_001048174.2(MUTYH):c.1501C>A (p.Leu501Met) rs3219496 0.00154
NM_004329.3(BMPR1A):c.1299C>T (p.Phe433=) rs150946485 0.00153
NM_032043.3(BRIP1):c.2061G>C (p.Val687=) rs112414873 0.00153
NM_007294.4(BRCA1):c.4682C>T (p.Thr1561Ile) rs56158747 0.00150
NM_000038.6(APC):c.8068G>A (p.Ala2690Thr) rs140868933 0.00146
NM_004360.5(CDH1):c.2440-6C>G rs139757930 0.00145
NM_000038.6(APC):c.6921G>A (p.Ser2307=) rs2229993 0.00143
NM_000251.3(MSH2):c.1387-8G>T rs187525243 0.00143
NM_004360.5(CDH1):c.1272C>T (p.Val424=) rs61756284 0.00143
NM_002691.4(POLD1):c.2967G>A (p.Thr989=) rs3218752 0.00142
NM_000051.4(ATM):c.1066-6T>G rs201686625 0.00139
NM_000251.3(MSH2):c.1737A>G (p.Lys579=) rs61756467 0.00138
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709 0.00137
NM_002354.3(EPCAM):c.831A>G (p.Ile277Met) rs115283528 0.00135
NM_000179.3(MSH6):c.3647-6T>A rs182871847 0.00134
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=) rs28897762 0.00132
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.8149G>T (p.Ala2717Ser) rs28897747 0.00127
NM_006231.4(POLE):c.296C>T (p.Pro99Leu) rs5744739 0.00127
NM_000059.4(BRCA2):c.6821G>T (p.Gly2274Val) rs55712212 0.00126
NM_000051.4(ATM):c.4473C>T (p.Phe1491=) rs4988008 0.00125
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) rs11212587 0.00124
NM_002878.4(RAD51D):c.263+1588A>G rs180869630 0.00123
NM_006231.4(POLE):c.861T>A (p.Asp287Glu) rs139075637 0.00122
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192 0.00121
NM_000535.7(PMS2):c.2340C>T (p.Pro780=) rs142230276 0.00117
NM_007294.4(BRCA1):c.591C>T (p.Cys197=) rs1799965 0.00117
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_002878.4(RAD51D):c.263+1509C>T rs201506572 0.00116
NM_002691.4(POLD1):c.2275G>A (p.Val759Ile) rs145473716 0.00110
NM_002691.4(POLD1):c.33C>T (p.Pro11=) rs3218768 0.00109
NM_006231.4(POLE):c.1323G>A (p.Pro441=) rs116573514 0.00106
NM_002354.3(EPCAM):c.159A>C (p.Ala53=) rs150562209 0.00105
NM_024675.4(PALB2):c.1194G>A (p.Val398=) rs61755173 0.00103
NM_000051.4(ATM):c.2127T>C (p.Ile709=) rs56252953 0.00102
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624 0.00100
NM_002691.4(POLD1):c.1620C>T (p.Gly540=) rs140216790 0.00098
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr) rs4986854 0.00098
NM_006231.4(POLE):c.1347G>A (p.Thr449=) rs142373951 0.00094
NM_000038.6(APC):c.7514G>A (p.Arg2505Gln) rs147549623 0.00093
NM_002691.4(POLD1):c.2628C>T (p.Ile876=) rs75874199 0.00088
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn) rs41294980 0.00087
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_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys) rs150792276 0.00081
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708 0.00074
NM_058216.3(RAD51C):c.146-8A>G rs201079501 0.00074
NM_006231.4(POLE):c.3718G>A (p.Glu1240Lys) rs113594027 0.00073
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu) rs2235006 0.00071
NM_032043.3(BRIP1):c.3459T>C (p.Asp1153=) rs4987050 0.00069
NM_007294.4(BRCA1):c.2733A>G (p.Gly911=) rs1800740 0.00066
NM_006231.4(POLE):c.3046G>A (p.Val1016Met) rs147692158 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_000179.3(MSH6):c.663A>C (p.Glu221Asp) rs41557217 0.00064
NM_007294.4(BRCA1):c.4812A>G (p.Gln1604=) rs28897693 0.00064
NM_006231.4(POLE):c.4057A>G (p.Ser1353Gly) rs141619382 0.00063
NM_000455.5(STK11):c.945G>A (p.Pro315=) rs376329042 0.00060
NM_007294.4(BRCA1):c.4691T>C (p.Leu1564Pro) rs56119278 0.00059
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly) rs148725540 0.00056
NM_002691.4(POLD1):c.1138-8A>G rs41544624 0.00056
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_000038.6(APC):c.1240C>T (p.Arg414Cys) rs137854567 0.00053
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941 0.00053
NM_002691.4(POLD1):c.1665C>T (p.Val555=) rs150238541 0.00053
NM_002691.4(POLD1):c.1061C>T (p.Ala354Val) rs140990974 0.00051
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys) rs140592056 0.00051
NM_006231.4(POLE):c.4730A>C (p.Glu1577Ala) rs5744948 0.00049
NM_000455.5(STK11):c.1185A>G (p.Thr395=) rs370207155 0.00047
NM_000051.4(ATM):c.1986T>C (p.Phe662=) rs1800055 0.00046
NM_002691.4(POLD1):c.2103C>T (p.Tyr701=) rs201483538 0.00046
NM_002691.4(POLD1):c.2052G>C (p.Gln684His) rs144143245 0.00045
NM_004360.5(CDH1):c.1744C>T (p.Leu582=) rs1801025 0.00045
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg) rs28897728 0.00044
NM_001048174.2(MUTYH):c.1365C>T (p.Thr455=) rs150269172 0.00043
NM_000179.3(MSH6):c.3960A>G (p.Ala1320=) rs373425206 0.00042
NM_000249.4(MLH1):c.702G>A (p.Glu234=) rs35908749 0.00041
NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met) rs144079536 0.00041
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His) rs45589637 0.00041
NM_000249.4(MLH1):c.198C>T (p.Thr66=) rs61751642 0.00040
NM_000535.7(PMS2):c.1560G>A (p.Ala520=) rs201167814 0.00039
NM_000179.3(MSH6):c.1449G>T (p.Val483=) rs35590297 0.00037
NM_000249.4(MLH1):c.977T>C (p.Val326Ala) rs63751049 0.00037
NM_000179.3(MSH6):c.2561A>T (p.Lys854Met) rs34374438 0.00036
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe) rs56009889 0.00035
NM_024675.4(PALB2):c.1470C>T (p.Pro490=) rs45612837 0.00035
NM_000038.6(APC):c.607C>G (p.Gln203Glu) rs141576417 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_000051.4(ATM):c.2494C>T (p.Arg832Cys) rs2229022 0.00032
NM_000051.4(ATM):c.4949A>G (p.Asn1650Ser) rs55870064 0.00030
NM_000075.4(CDK4):c.625C>T (p.Arg209Cys) rs140644696 0.00029
NM_002691.4(POLD1):c.961G>A (p.Gly321Ser) rs41554817 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.536A>G (p.Tyr179Cys) rs56187033 0.00029
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser) rs104895032 0.00027
NM_002691.4(POLD1):c.1795G>A (p.Ala599Thr) rs149569984 0.00027
NM_000059.4(BRCA2):c.4584C>T (p.Ser1528=) rs80359788 0.00026
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser) rs200513014 0.00026
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675 0.00026
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp) rs150624408 0.00026
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr) rs150757822 0.00025
NM_006231.4(POLE):c.1021G>T (p.Ala341Ser) rs137860861 0.00024
NM_006231.4(POLE):c.2683G>A (p.Ala895Thr) rs201115064 0.00024
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755 0.00022
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys) rs139438201 0.00022
NM_000038.6(APC):c.1419G>A (p.Gln473=) rs141579422 0.00021
NM_000038.6(APC):c.3352A>G (p.Asn1118Asp) rs140493115 0.00021
NM_024675.4(PALB2):c.298C>T (p.Leu100Phe) rs61756147 0.00021
NM_024675.4(PALB2):c.656A>G (p.Asp219Gly) rs45594034 0.00021
NM_000038.6(APC):c.3006C>T (p.Ala1002=) rs72541810 0.00020
NM_000051.4(ATM):c.295A>G (p.Ser99Gly) rs137882485 0.00019
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550 0.00019
NM_000059.4(BRCA2):c.2350A>G (p.Met784Val) rs11571653 0.00018
NM_024675.4(PALB2):c.2135C>T (p.Ala712Val) rs141458731 0.00017
NM_000249.4(MLH1):c.65G>C (p.Gly22Ala) rs41295280 0.00016
NM_002691.4(POLD1):c.2185G>A (p.Glu729Lys) rs200931999 0.00016
NM_006231.4(POLE):c.154C>T (p.Arg52Trp) rs115452881 0.00016
NM_006231.4(POLE):c.3245G>A (p.Arg1082His) rs201744227 0.00016
NM_000535.7(PMS2):c.1467G>A (p.Glu489=) rs542522853 0.00015
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342 0.00015
NM_000038.6(APC):c.6609T>C (p.Val2203=) rs149328018 0.00014
NM_000546.6(TP53):c.869G>A (p.Arg290His) rs55819519 0.00014
NM_002485.5(NBN):c.456G>A (p.Met152Ile) rs201816949 0.00014
NM_006231.4(POLE):c.6004+5G>T rs372169366 0.00014
NM_000075.4(CDK4):c.834T>C (p.Phe278=) rs115576923 0.00013
NM_002354.3(EPCAM):c.76+6G>T rs774722931 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_000249.4(MLH1):c.843A>C (p.Ala281=) rs146796765 0.00012
NM_000535.7(PMS2):c.595C>T (p.Arg199Cys) rs372297364 0.00012
NM_000051.4(ATM):c.2346A>G (p.Leu782=) rs730881285 0.00011
NM_000051.4(ATM):c.5185G>C (p.Val1729Leu) rs3092907 0.00011
NM_000251.3(MSH2):c.1461C>G (p.Asp487Glu) rs35107951 0.00011
NM_002485.5(NBN):c.1035C>T (p.Gly345=) rs146605798 0.00011
NM_007294.4(BRCA1):c.693G>A (p.Thr231=) rs62625298 0.00011
NM_024675.4(PALB2):c.2027T>C (p.Ile676Thr) rs200875161 0.00011
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu) rs28997573 0.00011
NM_000455.5(STK11):c.787T>C (p.Leu263=) rs372378119 0.00010
NM_000051.4(ATM):c.5005+7_5005+8del rs587780626 0.00009
NM_000059.4(BRCA2):c.2538A>C (p.Ser846=) rs11571654 0.00009
NM_000059.4(BRCA2):c.4977C>T (p.Ser1659=) rs45484897 0.00009
NM_000059.4(BRCA2):c.7601C>T (p.Ala2534Val) rs74047012 0.00009
NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser) rs147453999 0.00009
NM_001048174.2(MUTYH):c.583A>G (p.Ile195Val) rs200872702 0.00009
NM_002691.4(POLD1):c.1182C>T (p.Thr394=) rs377462923 0.00009
NM_024675.4(PALB2):c.1623G>A (p.Arg541=) rs745665968 0.00009
NM_000059.4(BRCA2):c.6748A>G (p.Thr2250Ala) rs80358899 0.00008
NM_024675.4(PALB2):c.2509G>A (p.Glu837Lys) rs587778587 0.00008
NM_000051.4(ATM):c.496+4T>C rs587781375 0.00007
NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala) rs267607939 0.00007
NM_000038.6(APC):c.5026A>G (p.Arg1676Gly) rs370560998 0.00006
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr) rs372305287 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_000251.3(MSH2):c.382C>G (p.Leu128Val) rs145649774 0.00006
NM_000455.5(STK11):c.1027G>A (p.Asp343Asn) rs368547224 0.00006
NM_000535.7(PMS2):c.477G>A (p.Val159=) rs147701251 0.00006
NM_002691.4(POLD1):c.1562G>A (p.Arg521Gln) rs143076166 0.00006
NM_002691.4(POLD1):c.2326C>T (p.Arg776Trp) rs780138978 0.00006
NM_024675.4(PALB2):c.1935G>A (p.Glu645=) rs141707455 0.00006
NM_000059.4(BRCA2):c.5268A>G (p.Val1756=) rs199879914 0.00005
NM_000059.4(BRCA2):c.9087G>A (p.Ala3029=) rs368576266 0.00005
NM_000249.4(MLH1):c.1937A>G (p.Tyr646Cys) rs35045067 0.00005
NM_002691.4(POLD1):c.1322C>T (p.Thr441Met) rs376711125 0.00005
NM_006231.4(POLE):c.2645A>G (p.Asn882Ser) rs539312991 0.00005
NM_006231.4(POLE):c.3857G>A (p.Arg1286His) rs771823596 0.00005
NM_000038.6(APC):c.449A>G (p.Lys150Arg) rs371085910 0.00004
NM_000038.6(APC):c.7786T>G (p.Ser2596Ala) rs138137162 0.00004
NM_000051.4(ATM):c.2610C>T (p.Asn870=) rs587780618 0.00004
NM_000051.4(ATM):c.3378A>G (p.Lys1126=) rs149182949 0.00004
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter) rs80358721 0.00004
NM_000059.4(BRCA2):c.6290C>T (p.Thr2097Met) rs80358866 0.00004
NM_000077.5(CDKN2A):c.197A>G (p.His66Arg) rs756750256 0.00004
NM_000077.5(CDKN2A):c.405G>A (p.Gly135=) rs751586391 0.00004
NM_000249.4(MLH1):c.794G>A (p.Arg265His) rs63751448 0.00004
NM_000251.3(MSH2):c.1601G>A (p.Arg534His) rs587778523 0.00004
NM_000535.7(PMS2):c.1197G>A (p.Lys399=) rs757730609 0.00004
NM_001048174.2(MUTYH):c.87C>T (p.Asn29=) rs141679570 0.00004
NM_002878.4(RAD51D):c.493C>T (p.Arg165Trp) rs544654228 0.00004
NM_006231.4(POLE):c.4582G>A (p.Ala1528Thr) rs373468985 0.00004
NM_006231.4(POLE):c.5595C>T (p.Tyr1865=) rs370958363 0.00004
NM_006231.4(POLE):c.6135C>T (p.Pro2045=) rs368662693 0.00004
NM_007294.4(BRCA1):c.3394A>G (p.Asn1132Asp) rs530464947 0.00004
NM_024675.4(PALB2):c.1699C>T (p.His567Tyr) rs370422990 0.00004
NM_024675.4(PALB2):c.2289G>C (p.Leu763Phe) rs373478248 0.00004
NM_058216.3(RAD51C):c.721G>A (p.Val241Met) rs184033132 0.00004
NM_000051.4(ATM):c.2396C>T (p.Ala799Val) rs199954262 0.00003
NM_000059.4(BRCA2):c.9190G>A (p.Asp3064Asn) rs80359177 0.00003
NM_000075.4(CDK4):c.522+8G>A rs758294834 0.00003
NM_000075.4(CDK4):c.549C>T (p.Pro183=) rs778696237 0.00003
NM_000251.3(MSH2):c.2205C>T (p.Ile735=) rs533553381 0.00003
NM_000251.3(MSH2):c.2528G>A (p.Cys843Tyr) rs747700106 0.00003
NM_000535.7(PMS2):c.751G>A (p.Val251Met) rs142434011 0.00003
NM_000546.6(TP53):c.329G>A (p.Arg110His) rs11540654 0.00003
NM_001048174.2(MUTYH):c.1516C>T (p.Arg506Trp) rs144616312 0.00003
NM_002485.5(NBN):c.509C>T (p.Pro170Leu) rs587782411 0.00003
NM_004360.5(CDH1):c.1477G>C (p.Val493Leu) rs730881666 0.00003
NM_006231.4(POLE):c.1878C>T (p.Asp626=) rs771910847 0.00003
NM_006231.4(POLE):c.2276G>A (p.Arg759His) rs746774432 0.00003
NM_006231.4(POLE):c.3970C>T (p.Arg1324Cys) rs779464847 0.00003
NM_006231.4(POLE):c.5002G>A (p.Gly1668Ser) rs371348453 0.00003
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala) rs587780192 0.00003
NM_007294.4(BRCA1):c.2447A>G (p.His816Arg) rs80357108 0.00003
NM_007294.4(BRCA1):c.3063T>C (p.Ser1021=) rs1364539273 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.702G>A (p.Lys234=) rs45512798 0.00003
NM_000038.6(APC):c.2444A>C (p.Asn815Thr) rs762990578 0.00002
NM_000051.4(ATM):c.8164C>T (p.Leu2722=) rs587782399 0.00002
NM_000051.4(ATM):c.8450A>G (p.Tyr2817Cys) rs747764678 0.00002
NM_000059.4(BRCA2):c.10154G>A (p.Arg3385His) rs80358398 0.00002
NM_000059.4(BRCA2):c.2944A>C (p.Ile982Leu) rs28897717 0.00002
NM_000059.4(BRCA2):c.5688A>G (p.Ala1896=) rs768907899 0.00002
NM_000251.3(MSH2):c.894G>C (p.Gln298His) rs587781397 0.00002
NM_000455.5(STK11):c.828C>T (p.Gly276=) rs200824447 0.00002
NM_000535.7(PMS2):c.1435C>G (p.His479Asp) rs376344586 0.00002
NM_002354.3(EPCAM):c.493G>A (p.Ala165Thr) rs146685071 0.00002
NM_002691.4(POLD1):c.1695C>T (p.His565=) rs763347860 0.00002
NM_002691.4(POLD1):c.2136G>A (p.Pro712=) rs765207547 0.00002
NM_002691.4(POLD1):c.2427C>T (p.Tyr809=) rs775317882 0.00002
NM_002691.4(POLD1):c.481A>T (p.Met161Leu) rs763969133 0.00002
NM_007294.4(BRCA1):c.19C>T (p.Arg7Cys) rs80356994 0.00002
NM_007294.4(BRCA1):c.4955T>C (p.Met1652Thr) rs80356968 0.00002
NM_000038.6(APC):c.775C>T (p.Arg259Trp) rs762117133 0.00001
NM_000038.6(APC):c.8038C>T (p.Pro2680Ser) rs587780553 0.00001
NM_000051.4(ATM):c.3411T>C (p.Ser1137=) rs369518512 0.00001
NM_000051.4(ATM):c.372C>A (p.Ile124=) rs773495195 0.00001
NM_000051.4(ATM):c.4071T>C (p.Ser1357=) rs767516955 0.00001
NM_000051.4(ATM):c.6974C>T (p.Ala2325Val) rs200940211 0.00001
NM_000059.4(BRCA2):c.3103G>T (p.Glu1035Ter) rs80358556 0.00001
NM_000059.4(BRCA2):c.3785C>G (p.Ser1262Ter) rs80358620 0.00001
NM_000059.4(BRCA2):c.7759C>T (p.Leu2587Phe) rs56335340 0.00001
NM_000059.4(BRCA2):c.8014A>G (p.Ile2672Val) rs80359037 0.00001
NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln) rs80359076 0.00001
NM_000059.4(BRCA2):c.9154C>T (p.Arg3052Trp) rs45580035 0.00001
NM_000059.4(BRCA2):c.927A>G (p.Ser309=) rs80359806 0.00001
NM_000077.5(CDKN2A):c.425A>G (p.His142Arg) rs759922342 0.00001
NM_000179.3(MSH6):c.2940A>G (p.Glu980=) rs730881818 0.00001
NM_000249.4(MLH1):c.108T>C (p.Ile36=) rs730881747 0.00001
NM_000249.4(MLH1):c.283T>G (p.Ser95Ala) rs63751070 0.00001
NM_000455.5(STK11):c.1150C>T (p.Arg384Trp) rs752015385 0.00001
NM_000535.7(PMS2):c.1240G>T (p.Asp414Tyr) rs370752614 0.00001
NM_000535.7(PMS2):c.1753C>A (p.Leu585Ile) rs63750947 0.00001
NM_000535.7(PMS2):c.187G>A (p.Val63Met) rs772216832 0.00001
NM_000546.6(TP53):c.1066G>C (p.Gly356Arg) rs766786605 0.00001
NM_000546.6(TP53):c.885T>C (p.Pro295=) rs200073907 0.00001
NM_001048174.2(MUTYH):c.558C>T (p.Gly186=) rs1057524506 0.00001
NM_002691.4(POLD1):c.1869G>T (p.Arg623=) rs748380365 0.00001
NM_002691.4(POLD1):c.2953C>T (p.Arg985Trp) rs780926432 0.00001
NM_002691.4(POLD1):c.327G>C (p.Gln109His) rs750260438 0.00001
NM_002691.4(POLD1):c.429C>T (p.Gly143=) rs372244044 0.00001
NM_002878.4(RAD51D):c.900A>G (p.Arg300=) rs370634278 0.00001
NM_004360.5(CDH1):c.1334A>C (p.Glu445Ala) rs374398608 0.00001
NM_004360.5(CDH1):c.1500C>T (p.Gly500=) rs781317341 0.00001
NM_004360.5(CDH1):c.2073C>T (p.Ala691=) rs536104508 0.00001
NM_005359.6(SMAD4):c.1219G>C (p.Val407Leu) rs147621330 0.00001
NM_005359.6(SMAD4):c.677C>T (p.Ala226Val) rs539739051 0.00001
NM_006231.4(POLE):c.1856G>A (p.Cys619Tyr) rs752456199 0.00001
NM_006231.4(POLE):c.2982C>T (p.Leu994=) rs771463033 0.00001
NM_006231.4(POLE):c.369G>A (p.Lys123=) rs1328407908 0.00001
NM_006231.4(POLE):c.5084G>A (p.Gly1695Asp) rs920535000 0.00001
NM_006231.4(POLE):c.5104A>G (p.Asn1702Asp) rs1431532125 0.00001
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg) rs72552322 0.00001
NM_007294.4(BRCA1):c.1704T>G (p.Pro568=) rs587780795 0.00001
NM_007294.4(BRCA1):c.4765C>T (p.Arg1589Cys) rs80357002 0.00001
NM_024675.4(PALB2):c.196C>T (p.Gln66Ter) rs180177083 0.00001
NM_024675.4(PALB2):c.2478C>T (p.Asn826=) rs786201885 0.00001
NM_024675.4(PALB2):c.315G>C (p.Glu105Asp) rs515726108 0.00001
NM_032043.3(BRIP1):c.679C>G (p.Gln227Glu) rs45459799 0.00001
NM_000038.6(APC):c.2547T>C (p.Asp849=) rs766086010
NM_000038.6(APC):c.2719G>A (p.Gly907Arg) rs771458366
NM_000038.6(APC):c.3462AGA[2] (p.Glu1157del) rs386833391
NM_000038.6(APC):c.7536T>C (p.Ser2512=) rs587780604
NM_000051.4(ATM):c.2495G>T (p.Arg832Leu) rs199875915
NM_000051.4(ATM):c.2937G>T (p.Leu979Phe) rs1166904824
NM_000051.4(ATM):c.4439CTT[1] (p.Ser1481del) rs786202338
NM_000051.4(ATM):c.6975G>C (p.Ala2325=) rs556778314
NM_000051.4(ATM):c.7012C>G (p.Leu2338Val) rs1555120990
NM_000051.4(ATM):c.720C>T (p.Leu240=) rs1254593530
NM_000051.4(ATM):c.8028A>G (p.Glu2676=) rs1389648050
NM_000051.4(ATM):c.9008A>G (p.Asn3003Ser) rs144636562
NM_000059.4(BRCA2):c.1875T>A (p.Phe625Leu) rs80358478
NM_000059.4(BRCA2):c.1909+9_1909+10del rs527732001
NM_000059.4(BRCA2):c.3059_3060del (p.Leu1019_Ser1020insTer) rs876661270
NM_000059.4(BRCA2):c.3392G>A (p.Arg1131Lys) rs1555283214
NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000059.4(BRCA2):c.4563A>C (p.Leu1521=) rs206075
NM_000059.4(BRCA2):c.4936_4939del (p.Glu1646fs) rs80359473
NM_000059.4(BRCA2):c.6439C>T (p.His2147Tyr) rs587781476
NM_000059.4(BRCA2):c.68-8_68-7inv
NM_000059.4(BRCA2):c.6886A>C (p.Ile2296Leu) rs576279166
NM_000059.4(BRCA2):c.7163C>T (p.Thr2388Ile) rs1555286026
NM_000059.4(BRCA2):c.7913_7917del (p.Ala2637_Phe2638insTer) rs80359686
NM_000059.4(BRCA2):c.8051A>G (p.Lys2684Arg) rs80359043
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys) rs80359152
NM_000059.4(BRCA2):c.9606G>C (p.Pro3202=) rs755890067
NM_000075.4(CDK4):c.381C>T (p.Gly127=) rs781207390
NM_000075.4(CDK4):c.805G>A (p.Ala269Thr) rs786202902
NM_000077.5(CDKN2A):c.369T>C (p.His123=) rs6413463
NM_000179.3(MSH6):c.1513dup (p.Tyr505fs) rs1553412912
NM_000179.3(MSH6):c.1883G>A (p.Trp628Ter) rs863225401
NM_000179.3(MSH6):c.1898C>G (p.Thr633Ser) rs1553413271
NM_000179.3(MSH6):c.3246G>A (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.347A>G (p.Asp116Gly) rs1553410255
NM_000179.3(MSH6):c.3758T>C (p.Val1253Ala) rs202066386
NM_000179.3(MSH6):c.4001+2TAAC[2] rs267608132
NM_000179.3(MSH6):c.603G>A (p.Glu201=) rs587779314
NM_000179.3(MSH6):c.905G>C (p.Arg302Thr) rs587781510
NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala) rs35502531
NM_000249.4(MLH1):c.2024G>T (p.Ser675Ile) rs781637991
NM_000249.4(MLH1):c.28C>T (p.Arg10Trp) rs1193754562
NM_000249.4(MLH1):c.399A>G (p.Gly133=) rs1559521083
NM_000251.3(MSH2):c.2136A>G (p.Val712=) rs1553369157
NM_000251.3(MSH2):c.2483T>G (p.Ile828Ser) rs753067992
NM_000251.3(MSH2):c.79C>A (p.Pro27Thr) rs878853826
NM_000314.8(PTEN):c.1178A>G (p.Asp393Gly) rs1564570482
NM_000535.7(PMS2):c.1360_1361delinsTC (p.Leu454Ser) rs587778615
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_000535.7(PMS2):c.537+1del rs1064793868
NM_000535.7(PMS2):c.765C>A (p.Tyr255Ter) rs573125799
NM_000535.7(PMS2):c.830C>A (p.Thr277Lys) rs1805322
NM_000546.6(TP53):c.1093C>T (p.His365Tyr) rs267605075
NM_000546.6(TP53):c.789T>C (p.Asn263=) rs770598448
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=) rs121908380
NM_001048174.2(MUTYH):c.457T>C (p.Ser153Pro) rs769684812
NM_002354.3(EPCAM):c.267G>C (p.Gln89His) rs146480420
NM_002354.3(EPCAM):c.496C>T (p.Leu166Phe) rs587780768
NM_002354.3(EPCAM):c.767C>G (p.Ala256Gly) rs1558438641
NM_002354.3(EPCAM):c.927T>C (p.His309=) rs1553345859
NM_002691.4(POLD1):c.1716G>T (p.Val572=) rs1568628387
NM_002691.4(POLD1):c.208G>T (p.Val70Phe) rs147911699
NM_002691.4(POLD1):c.2468G>T (p.Arg823Leu) rs771734704
NM_002691.4(POLD1):c.324G>T (p.Ala108=) rs20582
NM_002691.4(POLD1):c.463+8_463+9delinsTT rs796285537
NM_002878.4(RAD51D):c.621G>A (p.Ser207=) rs749859221
NM_004329.3(BMPR1A):c.1395G>A (p.Pro465=) rs55845713
NM_004329.3(BMPR1A):c.191C>T (p.Ser64Leu) rs760515128
NM_004360.5(CDH1):c.2333C>G (p.Ala778Gly) rs876659951
NM_004360.5(CDH1):c.2493C>T (p.Leu831=) rs779267700
NM_004656.4(BAP1):c.1717del (p.Leu573fs) rs869025212
NM_006231.4(POLE):c.2083T>A (p.Phe695Ile) rs5744799
NM_006231.4(POLE):c.2090C>G (p.Pro697Arg) rs36120395
NM_006231.4(POLE):c.2932G>T (p.Glu978Ter) rs1555225958
NM_006231.4(POLE):c.3198C>A (p.Asp1066Glu) rs1555225663
NM_006231.4(POLE):c.3787A>G (p.Thr1263Ala) rs1025864203
NM_006231.4(POLE):c.5570A>G (p.Lys1857Arg) rs5744971
NM_006231.4(POLE):c.6334C>T (p.Leu2112=) rs373443211
NM_006231.4(POLE):c.6682_6684del (p.Lys2228del) rs878854896
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) rs587780174
NM_007194.4(CHEK2):c.1348G>A (p.Glu450Lys) rs1555913429
NM_007194.4(CHEK2):c.860A>T (p.Lys287Met) rs876659184
NM_007294.4(BRCA1):c.3153T>C (p.Thr1051=) rs1057521053
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala) rs45553935
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.5277+1G>A rs80358150
NM_024675.4(PALB2):c.2752C>T (p.Pro918Ser) rs515726094
NM_024675.4(PALB2):c.991G>C (p.Glu331Gln) rs878855126
NM_032043.3(BRIP1):c.1982G>A (p.Cys661Tyr) rs1160736353
NM_032043.3(BRIP1):c.2991A>G (p.Thr997=) rs45466996
NM_032043.3(BRIP1):c.3622G>C (p.Asp1208His) rs760589795
NM_032043.3(BRIP1):c.785A>C (p.Glu262Ala) rs876658283

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