ClinVar Miner

List of variants reported as likely benign by Mendelics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1679
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HGVS dbSNP gnomAD frequency
NM_001278116.2(L1CAM):c.-109+95_-109+96insGCCG rs58566947 0.99995
NM_000518.5(HBB):c.315+16G>C rs10768683 0.82893
NM_021133.4(RNASEL):c.1385G>A (p.Arg462Gln) rs486907 0.28062
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133 0.27446
NM_000017.4(ACADS):c.625G>A (p.Gly209Ser) rs1799958 0.20617
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421 0.19530
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.18094
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met) rs4426527 0.15412
NM_001002294.3(FMO3):c.923A>G (p.Glu308Gly) rs2266780 0.14140
NM_003690.5(PRKRA):c.677T>A (p.Ile226Asn) rs77419724 0.13676
NM_002024.6(FMR1):c.357A>C (p.Lys119Asn) rs201580891 0.13140
NM_000255.4(MMUT):c.1495G>A (p.Ala499Thr) rs2229385 0.10476
NM_006206.6(PDGFRA):c.2323+1120C>T rs2291591 0.08547
NM_030653.4(DDX11):c.1819G>C (p.Ala607Pro) rs74912343 0.07203
NM_001379500.1(COL18A1):c.3778G>A (p.Asp1260Asn) rs12483377 0.06693
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys) rs11258194 0.05969
NM_000130.5(F5):c.3980A>G (p.His1327Arg) rs1800595 0.05074
NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr) rs6336 0.03696
NM_014675.5(CROCC):c.904C>G (p.Gln302Glu) rs143501240 0.03575
NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) rs72546667 0.03558
NM_002335.4(LRP5):c.1999G>A (p.Val667Met) rs4988321 0.03472
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys) rs35520756 0.03206
NM_013339.4(ALG6):c.391T>C (p.Tyr131His) rs35383149 0.02935
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg) rs61750126 0.02895
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg) rs7334118 0.02828
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val) rs35947132 0.02791
NM_001018115.3(FANCD2):c.1868A>C (p.Gln623Pro) rs36070315 0.02463
NM_000096.4(CP):c.1652C>T (p.Thr551Ile) rs61733458 0.02154
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) rs11934801 0.01974
NM_004937.3(CTNS):c.124G>A (p.Val42Ile) rs35086888 0.01867
NM_001256789.3(CACNA1F):c.1523G>A (p.Arg508Gln) rs34162630 0.01756
NM_033409.4(SLC52A3):c.1048T>A (p.Leu350Met) rs76947760 0.01629
NM_178012.5(TUBB2B):c.553G>A (p.Ala185Thr) rs146544321 0.01565
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
NM_000492.4(CFTR):c.*1043A>C rs10234329 0.01452
NM_001029883.3(PCARE):c.1844T>A (p.Val615Asp) rs140776870 0.01391
NM_001082971.2(DDC):c.629C>T (p.Pro210Leu) rs6262 0.01372
NM_001365536.1(SCN9A):c.2827A>C (p.Met943Leu) rs12478318 0.01339
NM_003000.3(SDHB):c.8C>G (p.Ala3Gly) rs11203289 0.01309
NM_024312.5(GNPTAB):c.1042A>C (p.Ile348Leu) rs7958709 0.01289
NM_033118.4(MYLK2):c.430C>G (p.Pro144Ala) rs34396614 0.01268
NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg) rs76116949 0.01253
NM_001370658.1(BTD):c.820A>G (p.Ile274Val) rs35976361 0.01187
NM_002693.3(POLG):c.3643+48A>G rs2307454 0.01182
NM_000249.4(MLH1):c.1039-8T>A rs193922367 0.01153
NM_000359.3(TGM1):c.1552G>A (p.Val518Met) rs35312232 0.01146
NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys) rs28936670 0.01082
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973 0.00994
NM_000209.4(PDX1):c.716C>A (p.Pro239Gln) rs199644078 0.00993
NM_000204.5(CFI):c.1534+5G>T rs114013791 0.00951
NM_000171.4(GLRA1):c.1108G>A (p.Gly370Ser) rs116474260 0.00939
NM_000249.4(MLH1):c.1732-19T>A rs77120160 0.00923
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro) rs33927012 0.00921
NM_001710.6(CFB):c.1697A>C (p.Glu566Ala) rs45484591 0.00913
NM_024408.4(NOTCH2):c.272G>T (p.Arg91Leu) rs143195893 0.00899
NM_000211.5(ITGB2):c.329-6C>T rs9983887 0.00876
NM_000142.5(FGFR3):c.1345C>T (p.Pro449Ser) rs61735104 0.00867
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123 0.00861
NM_000037.4(ANK1):c.5544+91C>T rs72638959 0.00849
NM_000211.5(ITGB2):c.1756C>T (p.Arg586Trp) rs5030672 0.00847
NM_004577.4(PSPH):c.650T>C (p.Val217Ala) rs73343752 0.00788
NM_002693.3(POLG):c.3561G>C (p.Arg1187=) rs62640037 0.00787
NM_001386298.1(CIC):c.7510T>C (p.Ser2504Pro) rs745695673 0.00775
NM_052865.4(MGME1):c.794C>T (p.Thr265Ile) rs76599088 0.00768
NM_181332.3(NLGN4X):c.1777C>T (p.Leu593Phe) rs3747333 0.00756
NM_001457.4(FLNB):c.6956T>C (p.Ile2319Thr) rs116826041 0.00739
NM_000465.4(BARD1):c.1972C>T (p.Arg658Cys) rs3738888 0.00736
NM_000481.4(AMT):c.631G>A (p.Glu211Lys) rs116192290 0.00735
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn) rs115014558 0.00719
NM_021625.5(TRPV4):c.2518G>A (p.Glu840Lys) rs55728855 0.00718
NM_001113378.2(FANCI):c.1813C>T (p.Leu605Phe) rs117125761 0.00708
NM_001130987.2(DYSF):c.*107T>A rs11903223 0.00707
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser) rs34677591 0.00706
NM_022173.4(TIA1):c.953A>G (p.Gln318Arg) rs115611153 0.00704
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg) rs1801316 0.00694
NM_001126049.2(KLLN):c.-956G>T rs34149102 0.00683
NM_003002.4(SDHD):c.149A>G (p.His50Arg) rs11214077 0.00679
NM_030632.3(ASXL3):c.6200T>G (p.Leu2067Arg) rs144534810 0.00679
NM_001142800.2(EYS):c.8422G>A (p.Ala2808Thr) rs111991705 0.00667
NM_016239.4(MYO15A):c.9478C>T (p.Leu3160Phe) rs140029076 0.00658
NM_001190274.2(FBXO11):c.*1173A>T rs2020906 0.00645
NM_017617.5(NOTCH1):c.3767C>T (p.Pro1256Leu) rs80340744 0.00645
NM_017799.4(TMEM260):c.1411G>A (p.Glu471Lys) rs113277637 0.00639
NM_031220.4(PITPNM3):c.541G>A (p.Val181Ile) rs61755430 0.00628
NM_015937.6(PIGT):c.367G>T (p.Val123Leu) rs141420243 0.00626
NM_000110.4(DPYD):c.557A>G (p.Tyr186Cys) rs115232898 0.00622
NM_000061.3(BTK):c.141+11C>T rs138411530 0.00620
NM_001875.5(CPS1):c.449G>A (p.Gly150Glu) rs114819130 0.00617
NM_015634.4(KIFBP):c.518T>C (p.Met173Thr) rs62625033 0.00610
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727 0.00609
NM_000368.5(TSC1):c.2626-3C>T rs1060503192 0.00608
NM_006765.4(TUSC3):c.193A>G (p.Ile65Val) rs11545035 0.00605
NM_006231.4(POLE):c.776G>A (p.Arg259His) rs61732929 0.00604
NM_004646.4(NPHS1):c.563A>T (p.Asn188Ile) rs145125791 0.00598
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg) rs28940884 0.00596
NM_001605.3(AARS1):c.1685C>T (p.Thr562Ile) rs148355156 0.00591
NM_000179.3(MSH6):c.3557-40T>A rs189436849 0.00587
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg) rs142645936 0.00585
NM_000038.6(APC):c.1959G>A (p.Arg653=) rs72541809 0.00583
NM_002256.4(KISS1):c.268C>G (p.His90Asp) rs201073751 0.00578
NM_000718.4(CACNA1B):c.2093-4C>A rs76062311 0.00574
NM_000969.5(RPL5):c.629A>G (p.Tyr210Cys) rs11540832 0.00574
NM_003477.3(PDHX):c.976G>C (p.Val326Leu) rs35560997 0.00574
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792 0.00573
NM_006662.3(SRCAP):c.3302C>A (p.Thr1101Lys) rs149248373 0.00571
NM_000321.3(RB1):c.2521-11G>A rs4151624 0.00570
NM_004544.4(NDUFA10):c.712G>A (p.Glu238Lys) rs35462421 0.00570
NM_182961.4(SYNE1):c.24952C>T (p.Leu8318Phe) rs141716975 0.00570
NM_004341.5(CAD):c.4930T>C (p.Phe1644Leu) rs144692793 0.00569
NM_000179.3(MSH6):c.1186C>G (p.Leu396Val) rs2020908 0.00565
NM_153252.5(BRWD3):c.2325+5G>A rs186391561 0.00565
NM_000138.5(FBN1):c.5343G>A (p.Val1781=) rs140649 0.00561
NM_015425.6(POLR1A):c.473G>C (p.Arg158Pro) rs146078741 0.00557
NM_000038.6(APC):c.-19+45G>A rs370011472 0.00550
NM_024589.3(ROGDI):c.713G>A (p.Arg238His) rs138409264 0.00548
NM_002055.5(GFAP):c.140C>T (p.Pro47Leu) rs57474185 0.00543
NM_015330.6(SPECC1L):c.1460G>A (p.Arg487His) rs55723436 0.00543
NM_000321.3(RB1):c.2490-45A>G rs4151610 0.00540
NM_014805.3(EPM2AIP1):c.-202G>C rs35032294 0.00539
NM_001174150.2(ARL13B):c.1186C>G (p.Pro396Ala) rs11554412 0.00529
NM_000554.6(CRX):c.724G>A (p.Val242Met) rs61748459 0.00521
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630 0.00521
NM_000051.4(ATM):c.6088A>G (p.Ile2030Val) rs145847315 0.00517
NM_002693.3(POLG):c.1550G>T (p.Gly517Val) rs61752783 0.00516
NM_000090.4(COL3A1):c.1804C>A (p.Pro602Thr) rs35795890 0.00513
NM_058216.3(RAD51C):c.572-17G>T rs193023469 0.00513
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361 0.00511
NM_001348800.3(ZBTB20):c.1318G>A (p.Glu440Lys) rs138924453 0.00511
NM_000208.4(INSR):c.3034G>A (p.Val1012Met) rs1799816 0.00500
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser) rs141268327 0.00496
NM_001009944.3(PKD1):c.6545A>G (p.Gln2182Arg) rs147685291 0.00492
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val) rs121908954 0.00491
NM_004370.6(COL12A1):c.9083G>A (p.Arg3028His) rs41266761 0.00484
NM_001377299.1(NDUFS2):c.968G>A (p.Arg323Gln) rs35086265 0.00477
NM_000251.3(MSH2):c.1666T>C (p.Leu556=) rs61756466 0.00471
NM_000141.5(FGFR2):c.1288-35A>G rs41295587 0.00467
NM_001166114.2(PNPLA6):c.1457C>T (p.Pro486Leu) rs145191932 0.00466
NM_001199198.3(TBC1D23):c.92G>C (p.Cys31Ser) rs62636640 0.00466
NM_002472.3(MYH8):c.5350C>G (p.Arg1784Gly) rs141215006 0.00462
NM_002474.3(MYH11):c.5676G>C (p.Glu1892Asp) rs113964173 0.00462
NM_001018115.3(FANCD2):c.1634A>G (p.Asn545Ser) rs145522204 0.00460
NM_022552.5(DNMT3A):c.89A>C (p.Glu30Ala) rs143730975 0.00459
NM_006567.5(FARS2):c.737C>T (p.Thr246Met) rs116567033 0.00455
NM_004562.3(PRKN):c.458C>G (p.Pro153Arg) rs55654276 0.00452
NM_183357.3(ADCY5):c.1902G>C (p.Glu634Asp) rs61734561 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_173354.5(SIK1):c.1215G>A (p.Met405Ile) rs34987632 0.00446
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val) rs1801673 0.00441
NM_015330.6(SPECC1L):c.293C>T (p.Ser98Phe) rs35783914 0.00439
NM_000057.4(BLM):c.4076+4T>G rs183176301 0.00436
NM_000179.3(MSH6):c.457+13A>G rs1800933 0.00434
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922 0.00431
NM_000053.4(ATP7B):c.3101A>G (p.His1034Arg) rs74085882 0.00430
NM_007294.4(BRCA1):c.*750A>G rs138782023 0.00430
NM_014026.6(DCPS):c.677G>A (p.Gly226Asp) rs35836343 0.00427
NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) rs72681869 0.00421
NM_000245.4(MET):c.504G>T (p.Glu168Asp) rs55985569 0.00420
NM_017617.5(NOTCH1):c.1042G>C (p.Ala348Pro) rs201236538 0.00418
NM_000254.3(MTR):c.155G>A (p.Arg52Gln) rs12749581 0.00417
NM_000322.5(PRPH2):c.133C>T (p.Leu45Phe) rs61755770 0.00414
NM_000038.6(APC):c.933+30A>G rs145211300 0.00412
NM_006982.3(ALX1):c.191G>T (p.Arg64Leu) rs115596276 0.00412
NM_001429.4(EP300):c.2773C>A (p.Pro925Thr) rs148884710 0.00410
NM_003036.4(SKI):c.1163C>T (p.Ala388Val) rs75280988 0.00410
NM_024989.4(PGAP1):c.1753C>G (p.Gln585Glu) rs62185645 0.00410
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln) rs188164241 0.00405
NM_014336.5(AIPL1):c.401A>T (p.Tyr134Phe) rs16955851 0.00404
NM_006662.3(SRCAP):c.5705A>G (p.Glu1902Gly) rs117480926 0.00402
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu) rs35001569 0.00399
NM_006432.5(NPC2):c.441+1G>A rs140130028 0.00399
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu) rs112306990 0.00398
NM_001106.4(ACVR2B):c.119G>A (p.Arg40His) rs121434437 0.00398
NM_015268.4(DNAJC13):c.3872A>G (p.Glu1291Gly) rs61748101 0.00396
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser) rs28940272 0.00396
NM_000424.4(KRT5):c.1636C>A (p.Leu546Ile) rs114734812 0.00394
NM_001379610.1(SPINK1):c.163C>T (p.Pro55Ser) rs111966833 0.00389
NM_001098.3(ACO2):c.220C>G (p.Leu74Val) rs141772938 0.00383
NM_006218.4(PIK3CA):c.-138C>T rs149946088 0.00383
NM_001429.4(EP300):c.2091T>G (p.Ser697Arg) rs61756764 0.00379
NM_002529.4(NTRK1):c.16C>T (p.Arg6Trp) rs201472270 0.00373
NM_001297.5(CNGB1):c.3115G>A (p.Gly1039Arg) rs148999583 0.00372
NM_000397.4(CYBB):c.1090G>C (p.Gly364Arg) rs141756032 0.00371
NM_138694.4(PKHD1):c.5125C>T (p.Leu1709Phe) rs45517932 0.00371
NM_001244008.2(KIF1A):c.3259C>T (p.Pro1087Ser) rs143037290 0.00369
NM_022168.4(IFIH1):c.1879G>T (p.Glu627Ter) rs35744605 0.00367
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg) rs2228980 0.00365
NM_004260.4(RECQL4):c.1704+9C>T rs35876881 0.00365
NM_001256849.1(POLD1):c.-51G>A rs576035899 0.00364
NM_002693.3(POLG):c.803G>C (p.Gly268Ala) rs61752784 0.00364
NM_002892.4(ARID4A):c.3211+1G>A rs62621193 0.00363
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys) rs4988345 0.00363
NM_172002.5(HSCB):c.13A>G (p.Arg5Gly) rs200681712 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_003238.6(TGFB2):c.619G>C (p.Val207Leu) rs10482810 0.00359
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys) rs72541816 0.00358
NM_001199753.2(CPT1C):c.2077C>A (p.Leu693Met) rs79488403 0.00356
NM_002907.4(RECQL):c.1483G>C (p.Asp495His) rs6499 0.00353
NM_000391.4(TPP1):c.229+181A>C rs189816289 0.00351
NM_001032386.2(SUOX):c.629C>T (p.Pro210Leu) rs141735896 0.00351
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701 0.00350
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr) rs61758784 0.00349
NM_182925.5(FLT4):c.1921C>T (p.Pro641Ser) rs55667289 0.00349
NM_001851.6(COL9A1):c.1349A>G (p.Glu450Gly) rs77706858 0.00348
NM_016239.4(MYO15A):c.3026C>A (p.Pro1009His) rs117612144 0.00347
NM_000142.5(FGFR3):c.1150T>C (p.Phe384Leu) rs17881656 0.00342
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167 0.00338
NM_020754.4(ARHGAP31):c.820C>T (p.Pro274Ser) rs139600783 0.00337
NM_000338.3(SLC12A1):c.347G>A (p.Arg116His) rs34819316 0.00334
NM_001134363.3(RBM20):c.3373G>A (p.Glu1125Lys) rs116908219 0.00333
NM_014014.5(SNRNP200):c.4165G>A (p.Val1389Ile) rs143898031 0.00328
NM_000245.4(MET):c.2908C>T (p.Arg970Cys) rs34589476 0.00327
NM_006231.4(POLE):c.4259C>T (p.Ala1420Val) rs41561818 0.00325
NM_000168.6(GLI3):c.1393G>C (p.Gly465Arg) rs35488756 0.00320
NM_213599.3(ANO5):c.680G>C (p.Gly227Ala) rs140903276 0.00320
NM_006514.4(SCN10A):c.5657C>T (p.Ala1886Val) rs142653846 0.00318
NM_001348800.3(ZBTB20):c.1164C>G (p.Asp388Glu) rs144663365 0.00317
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668 0.00317
NM_000355.4(TCN2):c.428-31G>A rs188667136 0.00314
NM_000251.3(MSH2):c.339G>A (p.Lys113=) rs35898375 0.00313
NM_005529.7(HSPG2):c.10498G>A (p.Val3500Met) rs143543800 0.00313
NM_006565.4(CTCF):c.1927C>T (p.Pro643Ser) rs145727304 0.00312
NM_002470.4(MYH3):c.4910C>T (p.Ala1637Val) rs34165480 0.00311
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr) rs35187787 0.00311
NM_006493.4(CLN5):c.-87C>T rs200353554 0.00309
NM_018706.7(DHTKD1):c.209C>G (p.Ala70Gly) rs34644609 0.00309
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490 0.00308
NM_001182.4(ALDH7A1):c.-80T>G rs563928852 0.00308
NM_006218.4(PIK3CA):c.1146-30G>A rs8192676 0.00308
NM_000208.4(INSR):c.2971C>A (p.Leu991Ile) rs150114699 0.00307
NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile) rs187043152 0.00306
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile) rs4988346 0.00305
NM_015909.4(NBAS):c.4913G>A (p.Arg1638His) rs146449593 0.00303
NM_001048174.2(MUTYH):c.1103-27C>T rs3219490 0.00300
NM_001063.4(TF):c.2012G>A (p.Gly671Glu) rs121918677 0.00299
NM_003238.6(TGFB2):c.272G>A (p.Arg91His) rs10482721 0.00297
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724 0.00295
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys) rs104894825 0.00295
NM_213599.3(ANO5):c.259G>A (p.Val87Ile) rs34994927 0.00293
NM_017780.4(CHD7):c.856A>G (p.Arg286Gly) rs61995713 0.00290
NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser) rs45568339 0.00287
NM_004260.4(RECQL4):c.1954G>A (p.Val652Met) rs61754061 0.00285
NM_000057.4(BLM):c.1088-40T>C rs184128669 0.00278
NM_000059.4(BRCA2):c.68-7T>A rs81002830 0.00277
NM_000553.6(WRN):c.3785C>G (p.Thr1262Arg) rs78488552 0.00276
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365 0.00275
NM_000168.6(GLI3):c.341G>A (p.Arg114Lys) rs146458902 0.00274
NM_000203.5(IDUA):c.246C>G (p.His82Gln) rs148775298 0.00274
NM_000969.5(RPL5):c.3+3G>C rs200628272 0.00274
NM_152416.4(NDUFAF6):c.838G>A (p.Val280Ile) rs61743028 0.00274
NM_006363.6(SEC23B):c.1512T>C (p.Asn504=) rs138198461 0.00271
NM_032043.3(BRIP1):c.2097+7G>A rs4988352 0.00271
NM_007194.4(CHEK2):c.592+50A>T rs17881298 0.00270
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954 0.00268
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu) rs192129249 0.00267
NM_030962.4(SBF2):c.2323G>A (p.Gly775Ser) rs141330687 0.00267
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_015102.5(NPHP4):c.1622C>T (p.Pro541Leu) rs145255635 0.00265
NM_000222.3(KIT):c.2597-51T>C rs368272654 0.00263
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His) rs35029074 0.00260
NM_002609.4(PDGFRB):c.3287C>T (p.Ala1096Val) rs114435947 0.00259
NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser) rs138824667 0.00256
NM_000179.3(MSH6):c.3911G>A (p.Arg1304Lys) rs34625968 0.00253
NM_001042517.2(DIAPH3):c.2149T>C (p.Ser717Pro) rs191267920 0.00253
NM_005236.3(ERCC4):c.2579C>A (p.Ala860Asp) rs4986933 0.00253
NM_006502.3(POLH):c.626G>T (p.Gly209Val) rs2307456 0.00253
NM_007315.4(STAT1):c.796G>A (p.Val266Ile) rs41473544 0.00251
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser) rs143638171 0.00250
NM_000088.4(COL1A1):c.1984-5C>A rs66592376 0.00249
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile) rs28385141 0.00245
NM_004168.4(SDHA):c.1523C>T (p.Thr508Ile) rs151266052 0.00245
NM_003072.5(SMARCA4):c.2275-3C>A rs117611401 0.00243
NM_000245.4(MET):c.2365-21G>C rs140853140 0.00242
NM_006231.4(POLE):c.51C>G (p.Gly17=) rs780436496 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_000136.3(FANCC):c.1156T>C (p.Ser386Pro) rs41281202 0.00236
NM_207122.2(EXT2):c.710C>T (p.Ser237Leu) rs139525250 0.00236
NM_001148.6(ANK2):c.11791G>A (p.Glu3931Lys) rs45454496 0.00235
NM_000057.4(BLM):c.4077-10C>T rs145310008 0.00233
NM_015107.3(PHF8):c.2720G>A (p.Arg907His) rs142630105 0.00233
NM_020822.3(KCNT1):c.2543A>G (p.Glu848Gly) rs149804567 0.00233
NM_000554.6(CRX):c.196G>A (p.Val66Ile) rs61748438 0.00231
NM_000465.4(BARD1):c.1977A>G (p.Arg659=) rs147215925 0.00230
NM_000122.2(ERCC3):c.2111C>T (p.Ser704Leu) rs4150521 0.00227
NM_022454.4(SOX17):c.775T>A (p.Tyr259Asn) rs267607083 0.00226
NM_000377.3(WAS):c.391G>A (p.Glu131Lys) rs146220228 0.00222
NM_001009944.3(PKD1):c.6749C>T (p.Thr2250Met) rs139971481 0.00222
NM_014874.4(MFN2):c.892G>A (p.Gly298Arg) rs41278630 0.00221
NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889 0.00220
NM_144964.4(TRMT10B):c.866A>T (p.Tyr289Phe) rs199618338 0.00220
NM_144964.4(TRMT10B):c.867C>A (p.Tyr289Ter) rs200754365 0.00220
NM_001242896.3(DEPDC5):c.2020C>T (p.Arg674Cys) rs181347577 0.00218
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr) rs41419545 0.00217
NM_005236.3(ERCC4):c.1812-5T>C rs2020952 0.00215
NM_006495.4(EVI2B):c.1019C>G (p.Pro340Arg) rs17884293 0.00215
NM_000057.4(BLM):c.254G>C (p.Arg85Thr) rs141503266 0.00213
NM_000077.5(CDKN2A):c.150+37G>C rs45456595 0.00212
NM_000492.4(CFTR):c.2620-15C>G rs139379077 0.00212
NM_001999.4(FBN2):c.829G>A (p.Val277Ile) rs146849637 0.00210
NM_000059.4(BRCA2):c.2926T>A (p.Ser976Thr) rs144862123 0.00208
NM_000059.4(BRCA2):c.2927C>T (p.Ser976Phe) rs11571656 0.00208
NM_004006.3(DMD):c.3970C>T (p.Arg1324Cys) rs143184877 0.00208
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) rs34767364 0.00206
NM_005431.2(XRCC2):c.808T>G (p.Phe270Val) rs145085742 0.00205
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_001370259.2(MEN1):c.-24+84C>G rs568093485 0.00202
NM_000251.3(MSH2):c.*226A>G rs17225060 0.00201
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu) rs17883862 0.00201
NM_000314.8(PTEN):c.254-34T>G rs34047313 0.00200
NM_001242896.3(DEPDC5):c.3683T>C (p.Ile1228Thr) rs200653339 0.00200
NM_004840.3(ARHGEF6):c.169T>C (p.Cys57Arg) rs147131853 0.00200
NM_000314.8(PTEN):c.209+84G>A rs185262832 0.00199
NM_014215.3(INSRR):c.1660C>T (p.Arg554Cys) rs56068937 0.00199
NM_000545.8(HNF1A):c.1165T>G (p.Leu389Val) rs115080759 0.00198
NM_014215.3(INSRR):c.736T>C (p.Cys246Arg) rs56377825 0.00197
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro) rs4988347 0.00197
NM_000051.4(ATM):c.8269-14A>T rs114320959 0.00195
NM_000059.4(BRCA2):c.6937+565T>C rs11571675 0.00195
NM_000168.6(GLI3):c.2424A>G (p.Ile808Met) rs62622373 0.00194
NM_014795.4(ZEB2):c.807+3G>C rs144925893 0.00194
NM_199242.3(UNC13D):c.847A>G (p.Ile283Val) rs61754871 0.00194
NM_001048166.1(STIL):c.1455G>C (p.Leu485Phe) rs139912214 0.00193
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg) rs145169006 0.00193
NM_004618.5(TOP3A):c.2270C>T (p.Pro757Leu) rs149596894 0.00192
NM_000350.3(ABCA4):c.5196+1159G>A rs80110715 0.00191
NM_014967.5(FAN1):c.149T>G (p.Met50Arg) rs148404807 0.00191
NM_024589.3(ROGDI):c.522C>T (p.Ser174=) rs150687774 0.00190
NM_000245.4(MET):c.1715G>A (p.Ser572Asn) rs199771406 0.00188
NM_000249.4(MLH1):c.790+10A>G rs182733777 0.00188
NM_002485.5(NBN):c.283G>A (p.Asp95Asn) rs61753720 0.00188
NM_000051.4(ATM):c.1229T>C (p.Val410Ala) rs56128736 0.00186
NM_003000.3(SDHB):c.32G>A (p.Arg11His) rs111430410 0.00185
NM_000435.3(NOTCH3):c.509A>G (p.His170Arg) rs147373451 0.00184
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710 0.00182
NM_001378414.1(HDAC4):c.2371G>A (p.Ala791Thr) rs61754648 0.00181
NM_003000.3(SDHB):c.423+20T>A rs190139590 0.00179
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln) rs149318176 0.00178
NM_000371.4(TTR):c.416C>T (p.Thr139Met) rs28933981 0.00177
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169 0.00177
NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met) rs142433309 0.00177
NM_000465.4(BARD1):c.33G>T (p.Gln11His) rs143914387 0.00176
NM_001256789.3(CACNA1F):c.2204A>C (p.Asn735Thr) rs141159097 0.00176
NM_002691.4(POLD1):c.773C>T (p.Thr258Met) rs76131127 0.00176
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser) rs146077918 0.00172
NM_002875.5(RAD51):c.449G>A (p.Arg150Gln) rs121917739 0.00171
NM_004738.5(VAPB):c.510G>A (p.Met170Ile) rs143144050 0.00170
NM_000059.4(BRCA2):c.4187A>G (p.Gln1396Arg) rs55969723 0.00168
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_002878.4(RAD51D):c.568G>A (p.Ala190Thr) rs80116829 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_177438.3(DICER1):c.20A>G (p.Gln7Arg) rs117358479 0.00165
NM_207034.3(EDN3):c.670G>A (p.Ala224Thr) rs11570351 0.00164
NM_005050.4(ABCD4):c.1411C>T (p.Arg471Trp) rs45568335 0.00163
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln) rs151272083 0.00162
NM_001377265.1(MAPT):c.1505C>T (p.Ser502Phe) rs143956882 0.00160
NM_000179.3(MSH6):c.3801+17T>C rs3136365 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_000179.3(MSH6):c.431G>T (p.Ser144Ile) rs3211299 0.00158
NM_000321.3(RB1):c.380+10C>G rs187110786 0.00158
NM_178857.6(RP1L1):c.568C>T (p.Arg190Cys) rs202110498 0.00158
NM_001372051.1(CASP8):c.803-2986C>G rs372086843 0.00157
NM_004360.5(CDH1):c.164-45T>C rs189978842 0.00155
NM_000124.4(ERCC6):c.4223A>C (p.Glu1408Ala) rs61760167 0.00154
NM_001048174.2(MUTYH):c.1501C>A (p.Leu501Met) rs3219496 0.00154
NM_080680.3(COL11A2):c.2336C>T (p.Pro779Leu) rs150877886 0.00153
NM_003482.4(KMT2D):c.10256A>G (p.Asp3419Gly) rs146044282 0.00152
NM_007294.4(BRCA1):c.4113G>A (p.Gly1371=) rs147448807 0.00150
NM_152424.4(AMER1):c.401A>C (p.His134Pro) rs146489129 0.00149
NM_001177316.2(SLC34A3):c.790G>A (p.Gly264Ser) rs148072630 0.00148
NM_001849.4(COL6A2):c.2558G>A (p.Arg853Gln) rs144830948 0.00148
NM_003865.2(HESX1):c.-276T>G rs983243 0.00148
NM_001369268.1(ACAN):c.230G>A (p.Arg77His) rs199701329 0.00147
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600 0.00146
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966 0.00145
NM_004360.5(CDH1):c.2440-6C>G rs139757930 0.00145
NM_006766.5(KAT6A):c.4952C>T (p.Pro1651Leu) rs144417514 0.00145
NM_000335.5(SCN5A):c.3919C>T (p.Leu1307Phe) rs41313031 0.00144
NM_000249.4(MLH1):c.2146G>A (p.Val716Met) rs35831931 0.00143
NM_000251.3(MSH2):c.1387-8G>T rs187525243 0.00143
NM_002691.4(POLD1):c.2967G>A (p.Thr989=) rs3218752 0.00142
NM_000059.4(BRCA2):c.9634G>C (p.Gly3212Arg) rs55775473 0.00141
NM_005431.2(XRCC2):c.40-16T>C rs41274991 0.00141
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu) rs142551229 0.00140
NM_002691.4(POLD1):c.2577C>T (p.Gly859=) rs149366027 0.00140
NM_015570.4(AUTS2):c.611A>G (p.Glu204Gly) rs149961458 0.00140
NM_000051.4(ATM):c.1066-6T>G rs201686625 0.00139
NM_000251.3(MSH2):c.1737A>G (p.Lys579=) rs61756467 0.00138
NM_000051.4(ATM):c.998C>T (p.Ser333Phe) rs28904919 0.00137
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser) rs145259927 0.00137
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709 0.00137
NM_002691.4(POLD1):c.2007-4G>A rs202035484 0.00135
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys) rs1800073 0.00134
NM_058195.4(CDKN2A):c.194-3652G>C rs531597737 0.00134
NM_194248.3(OTOF):c.5063C>T (p.Thr1688Met) rs111033393 0.00133
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=) rs28897762 0.00132
NM_001330260.2(SCN8A):c.3822C>T (p.Val1274=) rs187327463 0.00132
NM_001083962.2(TCF4):c.923-27T>G rs368057502 0.00131
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192 0.00130
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr) rs139866691 0.00129
NM_000059.4(BRCA2):c.-123G>T rs55641815 0.00128
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747 0.00127
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=) rs55865524 0.00127
NM_000051.4(ATM):c.6176C>T (p.Thr2059Ile) rs144761622 0.00126
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg) rs140781259 0.00126
NM_000051.4(ATM):c.4473C>T (p.Phe1491=) rs4988008 0.00125
NM_015443.4(KANSL1):c.2718T>G (p.Asn906Lys) rs139615350 0.00125
NM_002473.6(MYH9):c.4198C>T (p.Arg1400Trp) rs76368635 0.00123
NM_002878.4(RAD51D):c.263+1588A>G rs180869630 0.00123
NM_006231.4(POLE):c.861T>A (p.Asp287Glu) rs139075637 0.00122
NM_006432.5(NPC2):c.88G>A (p.Val30Met) rs151220873 0.00122
NM_194248.3(OTOF):c.2381G>A (p.Arg794His) rs80356592 0.00122
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192 0.00121
NM_000256.3(MYBPC3):c.1564G>A (p.Ala522Thr) rs11570082 0.00120
NM_002529.4(NTRK1):c.865C>A (p.Gln289Lys) rs137979116 0.00118
NM_002968.3(SALL1):c.3794G>A (p.Gly1265Glu) rs149302006 0.00118
NM_004463.3(FGD1):c.395G>A (p.Arg132Gln) rs145644275 0.00117
NM_007294.4(BRCA1):c.591C>T (p.Cys197=) rs1799965 0.00117
NM_000208.4(INSR):c.2243C>T (p.Ser748Leu) rs143523271 0.00116
NM_002878.4(RAD51D):c.263+1509C>T rs201506572 0.00116
NM_003072.5(SMARCA4):c.76G>A (p.Ala26Thr) rs145867502 0.00116
NM_004612.4(TGFBR1):c.457G>A (p.Val153Ile) rs56014374 0.00115
NM_000033.4(ABCD1):c.707G>A (p.Arg236His) rs201455322 0.00114
NM_000038.6(APC):c.423-17T>A rs534684461 0.00114
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg) rs28997570 0.00113
NM_000123.4(ERCC5):c.1768G>A (p.Val590Ile) rs4150318 0.00111
NM_000249.4(MLH1):c.-28A>G rs56198082 0.00110
NM_002691.4(POLD1):c.2275G>A (p.Val759Ile) rs145473716 0.00110
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser) rs142959373 0.00109
NM_058216.3(RAD51C):c.571+64C>A rs181988623 0.00108
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730 0.00107
NM_000059.4(BRCA2):c.9235G>A (p.Val3079Ile) rs55933907 0.00106
NM_000271.5(NPC1):c.881+82G>A rs562046566 0.00106
NM_015215.4(CAMTA1):c.4007C>T (p.Thr1336Ile) rs137974312 0.00106
NM_199242.3(UNC13D):c.2542A>C (p.Ile848Leu) rs144968313 0.00106
NM_199242.3(UNC13D):c.2983G>C (p.Ala995Pro) rs138760432 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_002691.4(POLD1):c.3054G>A (p.Val1018=) rs369613619 0.00103
NM_024675.4(PALB2):c.1194G>A (p.Val398=) rs61755173 0.00103
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057 0.00102
NM_000059.4(BRCA2):c.6057C>T (p.Asn2019=) rs147961615 0.00102
NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met) rs139524121 0.00102
NM_000051.4(ATM):c.2125-48T>C rs371067508 0.00101
NM_000548.5(TSC2):c.275A>T (p.Glu92Val) rs137853994 0.00101
NM_005263.5(GFI1):c.-14A>C rs200972824 0.00101
NC_000022.11:g.28742014G>A rs187164042 0.00100
NM_002691.4(POLD1):c.1620C>T (p.Gly540=) rs140216790 0.00098
NM_004006.3(DMD):c.2261G>T (p.Gly754Val) rs151242451 0.00098
NM_015570.4(AUTS2):c.385C>G (p.Leu129Val) rs145480547 0.00098
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=) rs11571655 0.00097
NM_000179.3(MSH6):c.3802-22G>A rs373409282 0.00097
NM_002382.5(MAX):c.172-6230G>A rs148339628 0.00097
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_001128425.2(MUTYH):c.36+214G>C rs568514678 0.00096
NM_000038.6(APC):c.7514G>A (p.Arg2505Gln) rs147549623 0.00093
NM_024757.5(EHMT1):c.737G>A (p.Arg246Gln) rs144871446 0.00092
NM_000038.6(APC):c.835-24A>T rs200399868 0.00091
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441 0.00091
NM_000057.4(BLM):c.3592G>A (p.Val1198Met) rs142928725 0.00090
NM_018060.4(IARS2):c.2122G>A (p.Glu708Lys) rs143722284 0.00089
NM_025216.3(WNT10A):c.208C>T (p.Arg70Trp) rs146460077 0.00089
NM_000038.6(APC):c.6821C>T (p.Ala2274Val) rs34919187 0.00088
NM_000535.7(PMS2):c.180C>G (p.Asp60Glu) rs200313585 0.00088
NM_000535.7(PMS2):c.497T>C (p.Leu166Pro) rs116349687 0.00088
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn) rs41294980 0.00087
NM_001165963.4(SCN1A):c.1811G>A (p.Arg604His) rs121918769 0.00087
NM_032444.4(SLX4):c.1372A>G (p.Lys458Glu) rs149126845 0.00087
NM_000465.4(BARD1):c.216-13A>T rs1272210676 0.00086
NM_001904.4(CTNNB1):c.860A>G (p.Asn287Ser) rs35288908 0.00086
NM_181486.4(TBX5):c.316A>G (p.Ile106Val) rs147710408 0.00086
NM_000264.5(PTCH1):c.1306G>A (p.Asp436Asn) rs142274954 0.00083
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243 0.00083
NM_001042492.3(NF1):c.3468C>T (p.Asn1156=) rs147955381 0.00083
NM_003070.5(SMARCA2):c.4717G>A (p.Asp1573Asn) rs61736899 0.00083
NM_020937.4(FANCM):c.3296G>A (p.Arg1099His) rs139382267 0.00083
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg) rs28897706 0.00082
NM_001202.6(BMP4):c.860G>A (p.Arg287His) rs121912768 0.00082
NM_002907.4(RECQL):c.395-9C>T rs560242370 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_000321.3(RB1):c.1129A>T (p.Thr377Ser) rs146897002 0.00080
NM_201253.3(CRB1):c.3992G>A (p.Arg1331His) rs62636285 0.00078
NM_000051.4(ATM):c.2096A>G (p.Glu699Gly) rs147934285 0.00077
NM_001048174.2(MUTYH):c.1424G>A (p.Gly475Glu) rs3219494 0.00076
NM_003482.4(KMT2D):c.3572C>T (p.Pro1191Leu) rs112236653 0.00076
NM_032043.3(BRIP1):c.195A>G (p.Gln65=) rs141436143 0.00076
NM_032043.3(BRIP1):c.3378A>C (p.Glu1126Asp) rs145855459 0.00076
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val) rs148432863 0.00075
NM_000393.5(COL5A2):c.4295A>T (p.Asp1432Val) rs141777954 0.00075
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro) rs141137543 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_058216.3(RAD51C):c.146-8A>G rs201079501 0.00074
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) rs45517238 0.00073
NM_012062.5(DNM1L):c.1834A>T (p.Ile612Phe) rs138133550 0.00073
NM_000249.4(MLH1):c.2104-11G>A rs147984696 0.00072
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325 0.00072
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu) rs2235006 0.00071
NM_000548.5(TSC2):c.1819G>A (p.Ala607Thr) rs45517203 0.00071
NM_001130145.3(YAP1):c.832C>T (p.Pro278Ser) rs61746398 0.00071
NM_002427.4(MMP13):c.1372C>T (p.Arg458Cys) rs142064825 0.00071
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008 0.00070
NM_000179.3(MSH6):c.3173-35C>T rs186475107 0.00070
NM_007194.4(CHEK2):c.320-5T>A rs121908700 0.00070
NM_004006.3(DMD):c.10262+1G>A rs145603325 0.00069
NM_004360.5(CDH1):c.*746C>A rs140240766 0.00069
NM_032043.3(BRIP1):c.3459T>C (p.Asp1153=) rs4987050 0.00069
NM_000245.4(MET):c.1039G>A (p.Ala347Thr) rs200074800 0.00068
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr) rs137854154 0.00068
NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly) rs145063086 0.00067
NM_014336.5(AIPL1):c.905G>T (p.Arg302Leu) rs62637015 0.00067
NM_001042492.3(NF1):c.7595C>T (p.Ala2532Val) rs148154172 0.00066
NM_004006.3(DMD):c.4233+2C>T rs147474070 0.00066
NM_007294.4(BRCA1):c.2733A>G (p.Gly911=) rs1800740 0.00066
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_001110792.2(MECP2):c.626C>T (p.Thr209Met) rs61749714 0.00064
NM_004360.5(CDH1):c.2520C>T (p.Ser840=) rs140328601 0.00064
NM_007294.4(BRCA1):c.3302G>A (p.Ser1101Asn) rs41293447 0.00064
NM_013275.6(ANKRD11):c.136G>A (p.Asp46Asn) rs144947610 0.00064
NM_006231.4(POLE):c.4057A>G (p.Ser1353Gly) rs141619382 0.00063
NM_007325.5(GRIA3):c.1181G>A (p.Arg394Gln) rs138817389 0.00063
NM_000249.4(MLH1):c.375A>G (p.Ala125=) rs1800144 0.00062
NM_002691.4(POLD1):c.455C>T (p.Ala152Val) rs41563714 0.00062
NM_005228.5(EGFR):c.3467A>C (p.His1156Pro) rs149174093 0.00062
NM_000245.4(MET):c.467C>T (p.Ser156Leu) rs56311081 0.00061
NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu) rs34995577 0.00061
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val) rs150151955 0.00060
NM_000455.5(STK11):c.945G>A (p.Pro315=) rs376329042 0.00060
NM_002691.4(POLD1):c.883G>A (p.Val295Met) rs199545019 0.00060
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His) rs28897677 0.00060
NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys) rs63750897 0.00059
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln) rs143486492 0.00059
NM_002485.5(NBN):c.1777C>G (p.Pro593Ala) rs146989944 0.00059
NM_002485.5(NBN):c.788T>C (p.Phe263Ser) rs147626427 0.00059
NM_000492.4(CFTR):c.3717+45G>A rs145743767 0.00058
NM_001042492.3(NF1):c.2033C>T (p.Pro678Leu) rs17881753 0.00058
NM_007294.4(BRCA1):c.5348T>C (p.Met1783Thr) rs55808233 0.00058
NM_144997.7(FLCN):c.871+47G>A rs142934950 0.00058
NM_004360.5(CDH1):c.2439+10C>T rs35236080 0.00057
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly) rs148725540 0.00056
NM_000051.4(ATM):c.6543G>T (p.Glu2181Asp) rs138828590 0.00056
NM_000057.4(BLM):c.968A>G (p.Lys323Arg) rs146504061 0.00056
NM_000077.5(CDKN2A):c.150+280C>T rs150201743 0.00056
NM_002691.4(POLD1):c.1138-8A>G rs41544624 0.00056
NM_020975.6(RET):c.262A>G (p.Ile88Val) rs141679950 0.00056
NM_206933.4(USH2A):c.4758+3A>G rs117798425 0.00056
NM_000245.4(MET):c.71G>A (p.Gly24Glu) rs180985111 0.00055
NM_000702.4(ATP1A2):c.1474G>A (p.Glu492Lys) rs142348542 0.00055
NM_001330311.2(DVL1):c.1502G>C (p.Cys501Ser) rs139708222 0.00055
NM_002907.4(RECQL):c.406G>A (p.Val136Ile) rs138278747 0.00055
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn) rs28897716 0.00054
NM_000059.4(BRCA2):c.7435+6G>A rs81002852 0.00053
NM_000455.5(STK11):c.426C>T (p.Ser142=) rs758448869 0.00053
NM_172201.2(KCNE2):c.40G>A (p.Val14Ile) rs142153692 0.00053
NM_000032.5(ALAS2):c.653G>A (p.Arg218His) rs185504937 0.00052
NM_000051.4(ATM):c.8592C>T (p.Tyr2864=) rs56025670 0.00051
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe) rs200078204 0.00051
NM_000546.6(TP53):c.783-33T>C rs113302588 0.00051
NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys) rs138089183 0.00051
NM_020975.6(RET):c.405C>T (p.Gly135=) rs142345108 0.00051
NM_198578.4(LRRK2):c.4111A>G (p.Ile1371Val) rs17466213 0.00050
NM_001211.6(BUB1B):c.1649G>A (p.Arg550Gln) rs28989187 0.00049
NM_001371623.1(TCOF1):c.1552G>A (p.Gly518Arg) rs201537012 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_000179.3(MSH6):c.2667G>T (p.Gln889His) rs149945495 0.00048
NM_001009944.3(PKD1):c.4563T>C (p.Gly1521=) rs143843155 0.00048
NM_022725.4(FANCF):c.241G>T (p.Ala81Ser) rs145057187 0.00048
NM_000455.5(STK11):c.1185A>G (p.Thr395=) rs370207155 0.00047
NM_006231.4(POLE):c.5659G>A (p.Val1887Met) rs114119067 0.00047
NM_006514.4(SCN10A):c.4984G>A (p.Gly1662Ser) rs151090729 0.00047
NM_020975.6(RET):c.3112A>G (p.Thr1038Ala) rs201740483 0.00047
NM_006218.4(PIK3CA):c.1747-9C>T rs201779641 0.00046
NM_013275.6(ANKRD11):c.5632T>C (p.Ser1878Pro) rs143743958 0.00046
NM_017763.6(RNF43):c.575C>T (p.Pro192Leu) rs139557480 0.00046
NM_000059.4(BRCA2):c.7976+12G>A rs81002827 0.00045
NM_001018115.3(FANCD2):c.182C>T (p.Thr61Met) rs35110529 0.00045
NM_001048174.2(MUTYH):c.914-9C>T rs3219488 0.00045
NM_001382430.1(AKT1):c.138C>A (p.Asp46Glu) rs146875699 0.00045
NM_002485.5(NBN):c.-26G>A rs201392451 0.00045
NM_002691.4(POLD1):c.2052G>C (p.Gln684His) rs144143245 0.00045
NM_002907.4(RECQL):c.1088A>G (p.Asn363Ser) rs138663409 0.00045
NM_015559.3(SETBP1):c.3962G>A (p.Arg1321His) rs149638556 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_000251.3(MSH2):c.1680T>C (p.Asn560=) rs200056411 0.00043
NM_001358530.2(MOCS1):c.1015C>T (p.Arg339Trp) rs148579886 0.00043
NM_004655.4(AXIN2):c.733C>T (p.Pro245Ser) rs62640028 0.00043
NM_000048.4(ASL):c.392C>T (p.Thr131Met) rs143793815 0.00042
NM_001134407.3(GRIN2A):c.2852G>T (p.Gly951Val) rs139795367 0.00042
NM_000245.4(MET):c.103A>T (p.Met35Leu) rs375353223 0.00041
NM_000249.4(MLH1):c.702G>A (p.Glu234=) rs35908749 0.00041
NM_000249.4(MLH1):c.884+39G>A rs370283452 0.00041
NM_000535.7(PMS2):c.936G>A (p.Met312Ile) rs139194813 0.00041
NM_002878.4(RAD51D):c.932T>A (p.Ile311Asn) rs145309168 0.00041
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His) rs45589637 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_000059.4(BRCA2):c.516+54T>C rs368799999 0.00039
NM_000245.4(MET):c.2715C>T (p.Ser905=) rs45572835 0.00039
NM_000314.8(PTEN):c.802-34C>A rs531071483 0.00039
NM_002354.2(EPCAM):c.*362A>G rs539981178 0.00039
NM_007294.4(BRCA1):c.301+146A>C rs571713225 0.00039
NM_144773.4(PROKR2):c.889G>A (p.Val297Ile) rs139399061 0.00039
NM_000077.5(CDKN2A):c.457+83C>T rs560686386 0.00038
NM_000136.3(FANCC):c.1374A>C (p.Arg458Ser) rs56394801 0.00038
NM_000492.4(CFTR):c.2620-6T>C rs371315682 0.00038
NM_000249.4(MLH1):c.977T>C (p.Val326Ala) rs63751049 0.00037
NM_002878.4(RAD51D):c.26G>C (p.Cys9Ser) rs140825795 0.00037
NM_002907.4(RECQL):c.401C>T (p.Thr134Ile) rs150306543 0.00037
NM_003738.5(PTCH2):c.1780G>A (p.Ala594Thr) rs147669300 0.00037
NM_000038.6(APC):c.6857C>T (p.Ala2286Val) rs200587641 0.00036
NM_002025.4(AFF2):c.2780G>A (p.Arg927His) rs140927355 0.00036
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe) rs56009889 0.00035
NM_000059.4(BRCA2):c.9924C>T (p.Tyr3308=) rs4987049 0.00035
NM_000208.4(INSR):c.151G>A (p.Glu51Lys) rs140852238 0.00035
NM_003579.4(RAD54L):c.888C>T (p.Asp296=) rs145556724 0.00035
NM_024675.4(PALB2):c.1470C>T (p.Pro490=) rs45612837 0.00035
NM_032444.4(SLX4):c.5248G>T (p.Ala1750Ser) rs771897046 0.00035
NM_000038.6(APC):c.607C>G (p.Gln203Glu) rs141576417 0.00034
NM_001042492.3(NF1):c.2850+17T>C rs1410636379 0.00034
NM_002691.4(POLD1):c.1092G>C (p.Leu364=) rs139883454 0.00034
NM_005228.5(EGFR):c.3629C>T (p.Ala1210Val) rs35918369 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_020975.6(RET):c.1158G>A (p.Ala386=) rs373540097 0.00034
NM_024426.6(WT1):c.662-6C>A rs372418954 0.00034
NM_000251.3(MSH2):c.2154A>G (p.Gln718=) rs63750810 0.00033
NM_002485.5(NBN):c.425A>G (p.Asn142Ser) rs769414 0.00033
NM_000038.6(APC):c.2232T>G (p.Ser744=) rs145751759 0.00032
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_000536.4(RAG2):c.644C>T (p.Thr215Ile) rs35691292 0.00032
NM_001371928.1(AHDC1):c.4585C>T (p.Arg1529Cys) rs200178921 0.00032
NM_003466.4(PAX8):c.215G>A (p.Arg72Gln) rs769138605 0.00032
NM_007294.4(BRCA1):c.4186-128A>T rs528390541 0.00032
NM_002529.4(NTRK1):c.482G>A (p.Arg161His) rs150271893 0.00031
NM_004656.4(BAP1):c.1962A>C (p.Val654=) rs148624125 0.00031
NM_005188.4(CBL):c.1287C>T (p.Ile429=) rs148368481 0.00031
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687 0.00031
NM_207122.2(EXT2):c.260T>G (p.Met87Arg) rs140075817 0.00031
NM_000268.4(NF2):c.886-15C>T rs200837904 0.00030
NM_000535.7(PMS2):c.706-3C>T rs1229860023 0.00030
NM_002691.4(POLD1):c.714G>A (p.Thr238=) rs149096523 0.00030
NM_003072.5(SMARCA4):c.4179G>A (p.Glu1393=) rs201879930 0.00030
NM_000061.3(BTK):c.1252T>C (p.Tyr418His) rs144079566 0.00029
NM_000138.5(FBN1):c.3058A>G (p.Thr1020Ala) rs111801777 0.00029
NM_000249.4(MLH1):c.1897-17C>G rs2308316 0.00029
NM_000268.4(NF2):c.1340+8G>T rs370604189 0.00029
NM_000273.3(GPR143):c.371A>G (p.Gln124Arg) rs62635032 0.00029
NM_000321.3(RB1):c.929G>A (p.Gly310Glu) rs200844292 0.00029
NM_001002294.3(FMO3):c.341A>G (p.Asn114Ser) rs186763441 0.00029
NM_001042492.3(NF1):c.5906A>T (p.Gln1969Leu) rs143502927 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_000038.6(APC):c.2593C>T (p.Pro865Ser) rs192620988 0.00028
NM_000038.6(APC):c.3511C>T (p.Arg1171Cys) rs201830995 0.00028
NM_004360.5(CDH1):c.892G>A (p.Ala298Thr) rs142822590 0.00028
NM_022168.4(IFIH1):c.2016del (p.Asp673fs) rs773033563 0.00028
NM_000136.3(FANCC):c.166-7T>C rs369052148 0.00027
NM_000455.5(STK11):c.*8C>T rs587782259 0.00027
NM_000455.5(STK11):c.-137C>T rs527710714 0.00027
NM_000059.4(BRCA2):c.4584C>T (p.Ser1528=) rs80359788 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_000535.7(PMS2):c.1004A>G (p.Asn335Ser) rs200513014 0.00026
NM_000760.4(CSF3R):c.272A>G (p.His91Arg) rs148307285 0.00026
NM_001367721.1(CASK):c.1186C>T (p.Pro396Ser) rs137852820 0.00026
NM_005228.5(EGFR):c.2543C>T (p.Pro848Leu) rs148934350 0.00026
NM_000112.4(SLC26A2):c.229A>C (p.Asn77His) rs76784312 0.00025
NM_001018115.3(FANCD2):c.1143C>T (p.Asp381=) rs376349741 0.00025
NM_004655.4(AXIN2):c.1059+8C>T rs367595502 0.00025
NM_000059.4(BRCA2):c.317-22C>T rs81002794 0.00024
NM_000548.5(TSC2):c.1443+4C>T rs45517172 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_058216.3(RAD51C):c.145+12T>G rs377297129 0.00024
NM_002878.4(RAD51D):c.263+1605G>A rs147933658 0.00023
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys) rs28897676 0.00023
NM_020975.6(RET):c.874G>A (p.Val292Met) rs34682185 0.00023
NM_000059.4(BRCA2):c.-197A>C rs370721506 0.00022
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755 0.00022
NM_000249.4(MLH1):c.307-19A>G rs121909451 0.00022
NM_000400.4(ERCC2):c.1905G>A (p.Ala635=) rs145835916 0.00022
NM_004006.3(DMD):c.8138A>G (p.Asn2713Ser) rs758633794 0.00022
NC_000001.11:g.172658929A>G rs895958192 0.00021
NC_000017.11:g.58692541G>A rs545213879 0.00021
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755 0.00021
NM_000245.4(MET):c.3632+42C>G rs376183825 0.00021
NM_000335.5(SCN5A):c.4591G>A (p.Val1531Ile) rs199473618 0.00021
NM_000465.4(BARD1):c.1347A>G (p.Gln449=) rs373257776 0.00021
NM_002878.4(RAD51D):c.983C>T (p.Thr328Ile) rs138969595 0.00021
NM_004006.3(DMD):c.2827C>T (p.Arg943Cys) rs199986217 0.00021
NM_004360.5(CDH1):c.670C>T (p.Arg224Cys) rs200310662 0.00021
NM_006231.4(POLE):c.561C>T (p.Tyr187=) rs143938822 0.00021
NM_007294.4(BRCA1):c.5411T>A (p.Val1804Asp) rs80356920 0.00021
NM_014225.6(PPP2R1A):c.75T>G (p.Val25=) rs587778622 0.00021
NM_024675.4(PALB2):c.656A>G (p.Asp219Gly) rs45594034 0.00021
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly) rs56403624 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_001369268.1(ACAN):c.913C>T (p.Arg305Cys) rs372895171 0.00020
NM_000051.4(ATM):c.1272T>C (p.Pro424=) rs35578748 0.00019
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr) rs145119475 0.00019
NM_000059.4(BRCA2):c.1123C>T (p.Pro375Ser) rs80358408 0.00019
NM_000059.4(BRCA2):c.5612G>A (p.Ser1871Asn) rs80358782 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_000077.5(CDKN2A):c.457+1129C>T rs774962789 0.00019
NM_000251.3(MSH2):c.138C>G (p.His46Gln) rs33946261 0.00019
NM_001165963.4(SCN1A):c.3899C>T (p.Thr1300Ile) rs146878122 0.00019
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys) rs200945460 0.00019
NM_002691.4(POLD1):c.2007-5C>T rs199506387 0.00019
NM_005228.5(EGFR):c.1557G>T (p.Glu519Asp) rs116057045 0.00019
NM_005633.4(SOS1):c.1705C>G (p.Leu569Val) rs200786705 0.00019
NM_014467.3(SRPX2):c.449C>T (p.Ser150Phe) rs373847965 0.00019
NM_000038.6(APC):c.4237A>G (p.Met1413Val) rs141519952 0.00018
NM_000038.6(APC):c.6637A>G (p.Met2213Val) rs186926737 0.00018
NM_000059.4(BRCA2):c.7976+23C>T rs183623188 0.00018
NM_000546.6(TP53):c.1014C>T (p.Phe338=) rs150293825 0.00018
NM_001048174.2(MUTYH):c.1102+9A>T rs587780742 0.00018
NM_002878.4(RAD51D):c.39C>G (p.Thr13=) rs146448657 0.00018
NM_004304.5(ALK):c.4407G>A (p.Pro1469=) rs372471601 0.00018
NM_005236.3(ERCC4):c.1606G>C (p.Val536Leu) rs143347563 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_198253.3(TERT):c.838G>A (p.Glu280Lys) rs199701877 0.00018
NC_000012.12:g.57752476A>G rs865902881 0.00017
NM_000335.5(SCN5A):c.80G>A (p.Arg27His) rs199473045 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_020937.4(FANCM):c.5848T>G (p.Leu1950Val) rs146436929 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_000077.5(CDKN2A):c.384G>A (p.Arg128=) rs199901898 0.00016
NM_000135.4(FANCA):c.3348+7G>T rs185527578 0.00016
NM_000179.3(MSH6):c.3160A>T (p.Ile1054Phe) rs267608075 0.00016
NM_000245.4(MET):c.4087G>A (p.Ala1363Thr) rs45578433 0.00016
NM_000321.3(RB1):c.113G>A (p.Gly38Asp) rs766529534 0.00016
NM_000455.5(STK11):c.-461G>A rs552610464 0.00016
NM_000535.7(PMS2):c.2437C>T (p.Arg813Trp) rs375968016 0.00016
NM_001018115.3(FANCD2):c.1118C>T (p.Ser373Leu) rs372534421 0.00016
NM_001165963.4(SCN1A):c.5870A>G (p.Glu1957Gly) rs121918802 0.00016
NM_001370259.2(MEN1):c.1080C>T (p.Ile360=) rs147331514 0.00016
NM_002691.4(POLD1):c.2337G>A (p.Ala779=) rs147108748 0.00016
NM_002691.4(POLD1):c.353C>T (p.Ser118Phe) rs780604625 0.00016
NM_006231.4(POLE):c.154C>T (p.Arg52Trp) rs115452881 0.00016
NM_000249.4(MLH1):c.1820T>A (p.Leu607His) rs41295284 0.00015
NM_001079668.3(NKX2-1):c.78-151A>G rs1003307358 0.00015
NM_006662.3(SRCAP):c.8500G>A (p.Gly2834Arg) rs146421389 0.00015
NM_014795.4(ZEB2):c.10C>G (p.Pro4Ala) rs146394306 0.00015
NM_032444.4(SLX4):c.5249C>T (p.Ala1750Val) rs745421287 0.00015
NM_000038.6(APC):c.6609T>C (p.Val2203=) rs149328018 0.00014
NM_000051.4(ATM):c.2927T>C (p.Val976Ala) rs146145357 0.00014
NM_000059.4(BRCA2):c.4061C>T (p.Thr1354Met) rs80358656 0.00014
NM_000059.4(BRCA2):c.502C>A (p.Pro168Thr) rs80358726 0.00014
NM_000321.3(RB1):c.1156A>G (p.Met386Val) rs564780653 0.00014
NM_000455.5(STK11):c.920+12C>T rs186518799 0.00014
NM_002907.4(RECQL):c.1465A>G (p.Ile489Val) rs146077019 0.00014
NM_007194.4(CHEK2):c.1489G>A (p.Asp497Asn) rs143965148 0.00014
NM_018062.4(FANCL):c.1021-6T>C rs377052216 0.00014
NM_032043.3(BRIP1):c.-30-3T>C rs370728413 0.00014
NM_000051.4(ATM):c.8671+9T>G rs200190537 0.00013
NM_000244.4(MEN1):c.-47A>G rs1035192873 0.00013
NM_000535.7(PMS2):c.255G>A (p.Leu85=) rs200491279 0.00013
NM_002907.4(RECQL):c.468T>G (p.Ile156Met) rs777214281 0.00013
NM_004006.3(DMD):c.821A>G (p.Tyr274Cys) rs745868830 0.00013
NM_004360.5(CDH1):c.2635G>A (p.Gly879Ser) rs200911775 0.00013
NM_004380.3(CREBBP):c.5776C>G (p.Arg1926Gly) rs778915687 0.00013
NM_021728.4(OTX2):c.641C>A (p.Thr214Asn) rs150982073 0.00013
NM_000038.6(APC):c.450A>G (p.Lys150=) rs116020626 0.00012
NM_000059.4(BRCA2):c.3055C>G (p.Leu1019Val) rs55638633 0.00012
NM_000249.4(MLH1):c.1050A>G (p.Pro350=) rs137937003 0.00012
NM_000521.4(HEXB):c.1627G>A (p.Ala543Thr) rs121907984 0.00012
NM_001103.4(ACTN2):c.1748A>G (p.Glu583Gly) rs200631005 0.00012
NM_002025.4(AFF2):c.1834C>G (p.His612Asp) rs376847375 0.00012
NM_004656.4(BAP1):c.1408G>A (p.Gly470Arg) rs576538858 0.00012
NM_005236.3(ERCC4):c.2647G>A (p.Glu883Lys) rs201652412 0.00012
NM_006231.4(POLE):c.6674G>A (p.Arg2225His) rs538875477 0.00012
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln) rs368570187 0.00012
NM_020937.4(FANCM):c.5832G>T (p.Leu1944Phe) rs201017015 0.00012
NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu) rs201963507 0.00011
NM_000059.4(BRCA2):c.1272A>G (p.Ser424=) rs587780531 0.00011
NM_000059.4(BRCA2):c.9501+9A>C rs81002867 0.00011
NM_000136.3(FANCC):c.817G>A (p.Glu273Lys) rs143181565 0.00011
NM_000179.3(MSH6):c.124C>T (p.Pro42Ser) rs34014629 0.00011
NM_000268.4(NF2):c.999+15G>A rs367716680 0.00011
NM_000455.5(STK11):c.1038C>T (p.Gly346=) rs767565606 0.00011
NM_000455.5(STK11):c.825G>A (p.Pro275=) rs202011521 0.00011
NM_001048174.2(MUTYH):c.1034C>T (p.Ala345Val) rs35352891 0.00011
NM_001429.4(EP300):c.2351C>T (p.Pro784Leu) rs201480900 0.00011
NM_002691.4(POLD1):c.432C>T (p.Phe144=) rs550836711 0.00011
NM_006218.4(PIK3CA):c.168C>T (p.Tyr56=) rs200868796 0.00011
NM_007294.4(BRCA1):c.1905T>C (p.Asn635=) rs369373293 0.00011
NM_007294.4(BRCA1):c.2002C>T (p.Leu668Phe) rs80357250 0.00011
NM_007294.4(BRCA1):c.3823A>G (p.Ile1275Val) rs80357280 0.00011
NM_007294.4(BRCA1):c.441+18C>T rs371973519 0.00011
NM_007294.4(BRCA1):c.5158A>G (p.Thr1720Ala) rs56195342 0.00011
NM_022895.3(C12orf43):c.*2096C>T rs571134960 0.00011
NM_000038.6(APC):c.388A>G (p.Ser130Gly) rs150973053 0.00010
NM_000059.4(BRCA2):c.10045A>G (p.Thr3349Ala) rs80358387 0.00010
NM_000059.4(BRCA2):c.8633-16C>G rs81002818 0.00010
NM_000179.3(MSH6):c.1875C>T (p.Ser625=) rs63749886 0.00010
NM_000251.3(MSH2):c.1386+23T>G rs747646424 0.00010
NM_001048174.2(MUTYH):c.-6-7G>A rs780029247 0.00010
NM_001754.5(RUNX1):c.*4188G>C rs761390141 0.00010
NM_002878.4(RAD51D):c.137C>G (p.Ser46Cys) rs587780102 0.00010
NM_006231.4(POLE):c.6531+6G>T rs774747998 0.00010
NM_033343.4(LHX4):c.776G>A (p.Arg259Gln) rs375216188 0.00010
NM_000051.4(ATM):c.2778A>G (p.Lys926=) rs372569168 0.00009
NM_000051.4(ATM):c.4167A>G (p.Thr1389=) rs183214437 0.00009
NM_000051.4(ATM):c.4414T>G (p.Leu1472Val) rs539676759 0.00009
NM_000059.4(BRCA2):c.6338A>G (p.Asn2113Ser) rs80358874 0.00009
NM_000179.3(MSH6):c.660A>C (p.Glu220Asp) rs1800938 0.00009
NM_000245.4(MET):c.110T>C (p.Val37Ala) rs201315884 0.00009
NM_000245.4(MET):c.2318C>T (p.Pro773Leu) rs771333219 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_000465.4(BARD1):c.1059C>G (p.Pro353=) rs368649242 0.00009
NM_000465.4(BARD1):c.1904-412A>T rs536758903 0.00009
NM_002691.4(POLD1):c.1182C>T (p.Thr394=) rs377462923 0.00009
NM_002691.4(POLD1):c.1596C>T (p.Ala532=) rs550441767 0.00009
NM_004006.3(DMD):c.4072-106G>A rs372444729 0.00009
NM_007194.4(CHEK2):c.*7T>C rs121908710 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_007294.4(BRCA1):c.5152+20T>A rs376836050 0.00009
NM_022464.5(SIL1):c.274C>T (p.Arg92Trp) rs149242794 0.00009
NM_198253.3(TERT):c.2001C>T (p.Tyr667=) rs758494245 0.00009
NR_136154.1(PMS2):n.13T>C rs746329908 0.00009
NM_000059.4(BRCA2):c.517-4C>G rs81002804 0.00008
NM_001128840.3(CACNA1D):c.1722G>A (p.Met574Ile) rs373740752 0.00008
NM_002907.4(RECQL):c.386G>A (p.Cys129Tyr) rs187203579 0.00008
NM_005263.5(GFI1):c.1250C>T (p.Thr417Met) rs777241871 0.00008
NM_024675.4(PALB2):c.2509G>A (p.Glu837Lys) rs587778587 0.00008
NM_000033.4(ABCD1):c.1840G>A (p.Gly614Ser) rs146525445 0.00007
NM_000051.4(ATM):c.749G>A (p.Arg250Gln) rs56123940 0.00007
NM_000059.4(BRCA2):c.3568C>T (p.Arg1190Trp) rs80358604 0.00007
NM_000245.4(MET):c.3218C>T (p.Pro1073Leu) rs370529693 0.00007
NM_000535.7(PMS2):c.1280G>A (p.Arg427His) rs112902065 0.00007
NM_000535.7(PMS2):c.384G>A (p.Ser128=) rs371342884 0.00007
NM_000548.5(TSC2):c.1656A>G (p.Ala552=) rs373515515 0.00007
NM_001148.6(ANK2):c.11683G>A (p.Val3895Met) rs72556370 0.00007
NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe) rs397516797 0.00007
NM_005228.5(EGFR):c.1774G>A (p.Val592Ile) rs144943614 0.00007
NM_006231.4(POLE):c.6331-8C>T rs769766403 0.00007
NM_007294.4(BRCA1):c.3783A>G (p.Leu1261=) rs80356831 0.00007
NM_007294.4(BRCA1):c.4358-48A>G rs200393646 0.00007
NM_020975.6(RET):c.1942G>A (p.Val648Ile) rs77711105 0.00007
NM_024408.4(NOTCH2):c.751+325G>T rs782464243 0.00007
NM_080632.3(UPF3B):c.1101G>C (p.Lys367Asn) rs199727706 0.00007
NM_177438.3(DICER1):c.1692G>A (p.Ala564=) rs143117334 0.00007
NM_000051.4(ATM):c.5352C>T (p.Asn1784=) rs140641762 0.00006
NM_000057.4(BLM):c.2898C>G (p.Leu966=) rs201220226 0.00006
NM_000057.4(BLM):c.3934G>A (p.Ala1312Thr) rs527291754 0.00006
NM_000059.4(BRCA2):c.1096T>G (p.Leu366Val) rs587779357 0.00006
NM_000059.4(BRCA2):c.3715A>G (p.Lys1239Glu) rs374191973 0.00006
NM_000059.4(BRCA2):c.7050C>T (p.Thr2350=) rs587780870 0.00006
NM_000179.3(MSH6):c.1050C>T (p.Ala350=) rs730881802 0.00006
NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg) rs63750527 0.00006
NM_000249.4(MLH1):c.1989+37T>C rs374195343 0.00006
NM_000249.4(MLH1):c.207+523G>A rs760066426 0.00006
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys) rs63750796 0.00006
NM_000256.3(MYBPC3):c.2761C>G (p.Gln921Glu) rs367729718 0.00006
NM_000284.4(PDHA1):c.16G>A (p.Ala6Thr) rs768396832 0.00006
NM_000465.4(BARD1):c.1973G>A (p.Arg658His) rs377227840 0.00006
NM_001083116.3(PRF1):c.632C>T (p.Ala211Val) rs368524364 0.00006
NM_001184880.2(PCDH19):c.2873G>A (p.Arg958Gln) rs748581653 0.00006
NM_001267550.2(TTN):c.-71G>A rs368880755 0.00006
NM_001358530.2(MOCS1):c.1468C>T (p.Arg490Trp) rs201889779 0.00006
NM_002485.5(NBN):c.1198G>A (p.Ala400Thr) rs551602980 0.00006
NM_002878.4(RAD51D):c.263+7G>A rs56218020 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_002907.4(RECQL):c.17-15C>T rs200928682 0.00006
NM_003466.4(PAX8):c.1028A>G (p.Asn343Ser) rs374652916 0.00006
NM_004360.5(CDH1):c.393C>T (p.Ser131=) rs145430811 0.00006
NM_004933.3(CDH15):c.568C>T (p.Arg190Trp) rs137923863 0.00006
NM_004958.4(MTOR):c.889G>A (p.Asp297Asn) rs141936187 0.00006
NM_005431.2(XRCC2):c.39+8C>G rs200363289 0.00006
NM_006231.4(POLE):c.3054C>T (p.Tyr1018=) rs201249963 0.00006
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu) rs587780180 0.00006
NM_020822.3(KCNT1):c.3502+1584G>A rs759235951 0.00006
NM_024675.4(PALB2):c.1935G>A (p.Glu645=) rs141707455 0.00006
NM_024675.4(PALB2):c.560C>A (p.Pro187His) rs371582757 0.00006
NM_024675.4(PALB2):c.768C>T (p.Ser256=) rs45487491 0.00006
NM_032043.3(BRIP1):c.2232C>T (p.Asp744=) rs374362388 0.00006
NM_000038.6(APC):c.3625G>A (p.Glu1209Lys) rs201185479 0.00005
NM_000038.6(APC):c.4372C>T (p.Pro1458Ser) rs143796828 0.00005
NM_000136.3(FANCC):c.395C>G (p.Ala132Gly) rs587779905 0.00005
NM_000179.3(MSH6):c.2173A>G (p.Ile725Val) rs148898662 0.00005
NM_000179.3(MSH6):c.3513T>C (p.Asp1171=) rs63749834 0.00005
NM_000245.4(MET):c.100G>A (p.Glu34Lys) rs764246939 0.00005
NM_000249.4(MLH1):c.1153C>T (p.Arg385Cys) rs63750760 0.00005
NM_000251.3(MSH2):c.843A>T (p.Ser281=) rs150197753 0.00005
NM_000455.5(STK11):c.375-7G>A rs587781176 0.00005
NM_001034853.2(RPGR):c.865A>G (p.Ile289Val) rs62640587 0.00005
NM_002637.4(PHKA1):c.3364G>C (p.Glu1122Gln) rs202007590 0.00005
NM_002878.4(RAD51D):c.-126C>T rs781135655 0.00005
NM_003000.3(SDHB):c.200+7A>G rs371329778 0.00005
NM_007294.4(BRCA1):c.5117G>C (p.Gly1706Ala) rs80356860 0.00005
NM_021625.5(TRPV4):c.1885G>A (p.Ala629Thr) rs200838499 0.00005
NM_032043.3(BRIP1):c.3567T>C (p.Asp1189=) rs764848326 0.00005
NM_000059.4(BRCA2):c.2987T>G (p.Leu996Arg) rs80358545 0.00004
NM_000059.4(BRCA2):c.6290C>T (p.Thr2097Met) rs80358866 0.00004
NM_000059.4(BRCA2):c.8918G>A (p.Arg2973His) rs80359143 0.00004
NM_000249.4(MLH1):c.2252A>G (p.Lys751Arg) rs140195825 0.00004
NM_000249.4(MLH1):c.381-43C>G rs368847278 0.00004
NM_000251.3(MSH2):c.287G>A (p.Arg96His) rs63750002 0.00004
NM_000455.5(STK11):c.-167C>T rs1273032629 0.00004
NM_000455.5(STK11):c.795G>A (p.Glu265=) rs730881963 0.00004
NM_000535.7(PMS2):c.1501G>A (p.Val501Met) rs540287433 0.00004
NM_000546.6(TP53):c.1149C>T (p.Leu383=) rs373710656 0.00004
NM_000546.6(TP53):c.91G>A (p.Val31Ile) rs201753350 0.00004
NM_001127222.2(CACNA1A):c.6601C>T (p.Arg2201Trp) rs1032588483 0.00004
NM_001323289.2(CDKL5):c.2389G>A (p.Asp797Asn) rs140313320 0.00004
NM_002691.4(POLD1):c.1383+8C>T rs374719944 0.00004
NM_004304.5(ALK):c.3363T>A (p.Gly1121=) rs201767904 0.00004
NM_004360.5(CDH1):c.375C>A (p.Pro125=) rs773044699 0.00004
NM_005228.5(EGFR):c.739G>A (p.Asp247Asn) rs780001754 0.00004
NM_005263.5(GFI1):c.1208A>G (p.Lys403Arg) rs28936382 0.00004
NM_006231.4(POLE):c.3939G>A (p.Thr1313=) rs150282789 0.00004
NM_006231.4(POLE):c.4150-6C>T rs756837862 0.00004
NM_006231.4(POLE):c.4307G>A (p.Arg1436Gln) rs754518522 0.00004
NM_007194.4(CHEK2):c.593-55G>A rs17879915 0.00004
NM_007294.4(BRCA1):c.4729T>C (p.Ser1577Pro) rs80356909 0.00004
NM_007294.4(BRCA1):c.81-11del rs273902788 0.00004
NM_019594.4(LRRC8A):c.1586C>T (p.Ala529Val) rs150164316 0.00004
NM_020937.4(FANCM):c.3938G>C (p.Ser1313Thr) rs771311008 0.00004
NM_000038.6(APC):c.647G>A (p.Arg216Gln) rs76685252 0.00003
NM_000051.4(ATM):c.2735A>G (p.Gln912Arg) rs730881353 0.00003
NM_000051.4(ATM):c.4910-248T>C rs550591525 0.00003
NM_000057.4(BLM):c.2106T>A (p.Pro702=) rs529421306 0.00003
NM_000057.4(BLM):c.2210_2211insA (p.Thr738fs) rs758886088 0.00003
NM_000057.4(BLM):c.2212_2213insTTC (p.Thr738delinsIlePro) rs780538610 0.00003
NM_000059.4(BRCA2):c.*15G>A rs376501142 0.00003
NM_000059.4(BRCA2):c.3581G>A (p.Gly1194Asp) rs28897721 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.4670C>G (p.Thr1557Ser) rs80358698 0.00003
NM_000059.4(BRCA2):c.5634C>G (p.Asn1878Lys) rs80358784 0.00003
NM_000059.4(BRCA2):c.6935A>T (p.Asp2312Val) rs80358916 0.00003
NM_000059.4(BRCA2):c.9458G>C (p.Gly3153Ala) rs80359220 0.00003
NM_000179.3(MSH6):c.627+9C>T rs373155872 0.00003
NM_000249.4(MLH1):c.884+15A>G rs372817491 0.00003
NM_000455.5(STK11):c.374+9T>A rs762297795 0.00003
NM_000465.4(BARD1):c.1904-485A>G rs571154441 0.00003
NM_000465.4(BARD1):c.1904-629C>T rs1266026461 0.00003
NM_001042492.3(NF1):c.169G>A (p.Gly57Ser) rs779727341 0.00003
NM_001128425.2(MUTYH):c.36+179G>T rs1418696430 0.00003
NM_001165963.4(SCN1A):c.4834G>A (p.Val1612Ile) rs121918808 0.00003
NM_001370259.2(MEN1):c.1165C>T (p.Arg389Trp) rs566593066 0.00003
NM_002529.4(NTRK1):c.1083G>T (p.Leu361=) rs750656916 0.00003
NM_002878.4(RAD51D):c.481-8C>T rs762247126 0.00003
NM_002878.4(RAD51D):c.83-37C>A rs763129236 0.00003
NM_004360.5(CDH1):c.1138-44G>A rs374676556 0.00003
NM_005228.5(EGFR):c.345T>A (p.Asn115Lys) rs773596817 0.00003
NM_005228.5(EGFR):c.559+46G>A rs752130552 0.00003
NM_006231.4(POLE):c.1021-11C>T rs781431436 0.00003
NM_006231.4(POLE):c.3090C>T (p.Phe1030=) rs766306895 0.00003
NM_006231.4(POLE):c.3228C>T (p.Cys1076=) rs767929667 0.00003
NM_007294.4(BRCA1):c.398G>A (p.Arg133His) rs80357357 0.00003
NM_007294.4(BRCA1):c.5333-8C>T rs80358084 0.00003
NM_020937.4(FANCM):c.1667A>G (p.Asp556Gly) rs148810507 0.00003
NM_020975.6(RET):c.1867G>A (p.Glu623Lys) rs377767402 0.00003
NM_020975.6(RET):c.3149G>A (p.Arg1050Gln) rs200956659 0.00003
NM_030662.4(MAP2K2):c.818A>G (p.Lys273Arg) rs539555837 0.00003
NM_032043.3(BRIP1):c.2100A>G (p.Leu700=) rs766047812 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_033343.4(LHX4):c.704G>A (p.Arg235Gln) rs765008063 0.00003
NM_000038.6(APC):c.3225T>C (p.Tyr1075=) rs768123840 0.00002
NM_000038.6(APC):c.5308A>G (p.Lys1770Glu) rs551183536 0.00002
NM_000038.6(APC):c.7495G>C (p.Val2499Leu) rs33941929 0.00002
NM_000038.6(APC):c.7550A>G (p.Tyr2517Cys) rs587783036 0.00002
NM_000051.4(ATM):c.2115C>T (p.Tyr705=) rs876659149 0.00002
NM_000051.4(ATM):c.4437-9C>T rs766003804 0.00002
NM_000051.4(ATM):c.8151+8T>C rs768069197 0.00002
NM_000051.4(ATM):c.8152-50T>C rs762648668 0.00002
NM_000057.4(BLM):c.3019+17T>C rs532036885 0.00002
NM_000057.4(BLM):c.963G>A (p.Thr321=) rs779461745 0.00002
NM_000059.4(BRCA2):c.10202C>T (p.Thr3401Met) rs55853199 0.00002
NM_000059.4(BRCA2):c.1820A>C (p.Lys607Thr) rs55962656 0.00002
NM_000059.4(BRCA2):c.5270A>G (p.Tyr1757Cys) rs587776466 0.00002
NM_000077.5(CDKN2A):c.457+30C>T rs780868128 0.00002
NM_000123.4(ERCC5):c.3428C>T (p.Ala1143Val) rs376411022 0.00002
NM_000136.3(FANCC):c.1161C>T (p.Cys387=) rs548998258 0.00002
NM_000169.3(GLA):c.196G>C (p.Glu66Gln) rs104894833 0.00002
NM_000179.3(MSH6):c.204G>A (p.Lys68=) rs864622565 0.00002
NM_000179.3(MSH6):c.4002-28del rs1572749250 0.00002
NM_000245.4(MET):c.1640G>A (p.Arg547Gln) rs761951444 0.00002
NM_000251.3(MSH2):c.2061C>G (p.Leu687=) rs63750032 0.00002
NM_000314.8(PTEN):c.-280C>T rs571072832 0.00002
NM_000335.5(SCN5A):c.436G>A (p.Val146Met) rs199473061 0.00002
NM_000335.5(SCN5A):c.5960T>G (p.Leu1987Arg) rs145009013 0.00002
NM_000431.4(MVK):c.1156G>A (p.Asp386Asn) rs104895380 0.00002
NM_000546.6(TP53):c.555C>T (p.Ser185=) rs367560109 0.00002
NM_001128425.2(MUTYH):c.161G>A (p.Cys54Tyr) rs560905645 0.00002
NM_002485.5(NBN):c.120G>T (p.Ser40=) rs774989816 0.00002
NM_002691.4(POLD1):c.2155-6C>T rs112481714 0.00002
NM_002691.4(POLD1):c.2565-12G>A rs779262089 0.00002
NM_002907.4(RECQL):c.502-10C>T rs1565569497 0.00002
NM_002907.4(RECQL):c.868-10T>A rs752255394 0.00002
NM_003466.4(PAX8):c.709G>C (p.Glu237Gln) rs199890664 0.00002
NM_004006.3(DMD):c.2528A>T (p.Glu843Val) rs202167701 0.00002
NM_004006.3(DMD):c.7359A>G (p.Glu2453=) rs780283825 0.00002
NM_004360.5(CDH1):c.1273G>A (p.Val425Ile) rs570930882 0.00002
NM_004387.4(NKX2-5):c.943G>T (p.Val315Leu) rs201249977 0.00002
NM_004656.4(BAP1):c.2076G>A (p.Val692=) rs747712653 0.00002
NM_005732.4(RAD50):c.1992A>G (p.Ala664=) rs773126534 0.00002
NM_005732.4(RAD50):c.282A>G (p.Ile94Met) rs786202847 0.00002
NM_006218.4(PIK3CA):c.1767T>C (p.Asp589=) rs199540873 0.00002
NM_006218.4(PIK3CA):c.2418T>C (p.Asp806=) rs199693043 0.00002
NM_007294.4(BRCA1):c.3012G>A (p.Glu1004=) rs786201784 0.00002
NM_007294.4(BRCA1):c.4766G>A (p.Arg1589His) rs80357341 0.00002
NM_007294.4(BRCA1):c.4955T>C (p.Met1652Thr) rs80356968 0.00002
NM_007294.4(BRCA1):c.5074+23A>G rs778115859 0.00002
NM_007294.4(BRCA1):c.5074+6C>G rs80358032 0.00002
NM_007294.4(BRCA1):c.5175A>G (p.Glu1725=) rs191373374 0.00002
NM_019594.4(LRRC8A):c.203C>T (p.Ser68Leu) rs147311433 0.00002
NM_020975.6(RET):c.1678C>T (p.Pro560Ser) rs748852160 0.00002
NM_022455.5(NSD1):c.6887T>C (p.Val2296Ala) rs754309202 0.00002
NM_032043.3(BRIP1):c.-95G>A rs892920553 0.00002
NM_032638.5(GATA2):c.1017+8C>T rs200848213 0.00002
NM_058216.3(RAD51C):c.1026+43C>T rs750859385 0.00002
NM_058216.3(RAD51C):c.146-3C>T rs765143155 0.00002
NM_000038.6(APC):c.-19+416C>T rs976627265 0.00001
NM_000038.6(APC):c.1580G>C (p.Arg527Thr) rs1554081889 0.00001
NM_000038.6(APC):c.2472A>T (p.Pro824=) rs746965994 0.00001
NM_000038.6(APC):c.2642C>T (p.Ser881Phe) rs535344579 0.00001
NM_000038.6(APC):c.3804A>G (p.Pro1268=) rs878853442 0.00001
NM_000038.6(APC):c.5017G>A (p.Glu1673Lys) rs587779796 0.00001
NM_000051.4(ATM):c.2922-8T>A rs545892367 0.00001
NM_000051.4(ATM):c.3256C>T (p.Arg1086Cys) rs201780199 0.00001
NM_000051.4(ATM):c.3549T>C (p.Asn1183=) rs767377764 0.00001
NM_000051.4(ATM):c.5658T>C (p.Pro1886=) rs940182945 0.00001
NM_000051.4(ATM):c.902-22A>C rs766650801 0.00001
NM_000057.4(BLM):c.2784T>C (p.Asp928=) rs1032746564 0.00001
NM_000057.4(BLM):c.3875-6T>C rs1021714718 0.00001
NM_000059.4(BRCA2):c.10076A>G (p.Glu3359Gly) rs80358389 0.00001
NM_000059.4(BRCA2):c.2127G>C (p.Leu709=) rs554040246 0.00001
NM_000059.4(BRCA2):c.2601T>G (p.Thr867=) rs730881589 0.00001
NM_000059.4(BRCA2):c.3509C>T (p.Ala1170Val) rs80358599 0.00001
NM_000059.4(BRCA2):c.3767A>C (p.His1256Pro) rs80358618 0.00001
NM_000059.4(BRCA2):c.3814A>G (p.Met1272Val) rs80358624 0.00001
NM_000059.4(BRCA2):c.4023A>C (p.Ser1341=) rs276174840 0.00001
NM_000059.4(BRCA2):c.438A>G (p.Leu146=) rs200942633 0.00001
NM_000059.4(BRCA2):c.5882G>A (p.Ser1961Asn) rs80358820 0.00001
NM_000059.4(BRCA2):c.6131G>T (p.Gly2044Val) rs56191579 0.00001
NM_000059.4(BRCA2):c.6443C>A (p.Ser2148Tyr) rs80358880 0.00001
NM_000059.4(BRCA2):c.6842-19A>G rs81002865 0.00001
NM_000059.4(BRCA2):c.7307A>T (p.Asn2436Ile) rs80358955 0.00001
NM_000059.4(BRCA2):c.7463G>A (p.Arg2488Lys) rs80358968 0.00001
NM_000059.4(BRCA2):c.7928C>G (p.Ala2643Gly) rs80359018 0.00001
NM_000059.4(BRCA2):c.811G>A (p.Gly271Arg) rs786204274 0.00001
NM_000059.4(BRCA2):c.8647C>T (p.Pro2883Ser) rs80359122 0.00001
NM_000059.4(BRCA2):c.8997G>A (p.Leu2999=) rs80359804 0.00001
NM_000059.4(BRCA2):c.9649-45G>C rs376783622 0.00001
NM_000059.4(BRCA2):c.964A>C (p.Lys322Gln) rs11571640 0.00001
NM_000075.4(CDK4):c.660C>T (p.Ala220=) rs773490152 0.00001
NM_000077.5(CDKN2A):c.151-66A>G rs890179220 0.00001
NM_000077.5(CDKN2A):c.458-525G>T rs1448745459 0.00001
NM_000088.4(COL1A1):c.1875+3G>T rs138164489 0.00001
NM_000135.4(FANCA):c.3366C>T (p.His1122=) rs771815968 0.00001
NM_000136.3(FANCC):c.-87G>A rs1051113986 0.00001
NM_000136.3(FANCC):c.1069C>G (p.Gln357Glu) rs759900071 0.00001
NM_000136.3(FANCC):c.1155-29A>G rs759352163 0.00001
NM_000136.3(FANCC):c.1275C>G (p.Leu425=) rs767126985 0.00001
NM_000136.3(FANCC):c.1534-18C>T rs1289718209 0.00001
NM_000136.3(FANCC):c.166-5C>T rs753820400 0.00001
NM_000136.3(FANCC):c.166-9C>G rs372507085 0.00001
NM_000141.5(FGFR2):c.755C>T (p.Ser252Leu) rs79184941 0.00001
NM_000142.5(FGFR3):c.514G>A (p.Val172Ile) rs529408918 0.00001
NM_000169.3(GLA):c.1153A>G (p.Thr385Ala) rs397515869 0.00001
NM_000179.3(MSH6):c.1623C>T (p.Ser541=) rs777678406 0.00001
NM_000179.3(MSH6):c.2641G>A (p.Gly881Ser) rs998186339 0.00001
NM_000179.3(MSH6):c.2982C>T (p.Tyr994=) rs367758473 0.00001
NM_000179.3(MSH6):c.3300G>A (p.Thr1100=) rs540252208 0.00001
NM_000208.4(INSR):c.2572A>G (p.Thr858Ala) rs182552223 0.00001
NM_000245.4(MET):c.1306G>A (p.Glu436Lys) rs200740468 0.00001
NM_000245.4(MET):c.305G>A (p.Ser102Asn) rs779897466 0.00001
NM_000249.4(MLH1):c.1896+7C>T rs863224339 0.00001
NM_000249.4(MLH1):c.1990-6G>A rs117221851 0.00001
NM_000249.4(MLH1):c.2104-22T>G rs267607890 0.00001
NM_000249.4(MLH1):c.351G>A (p.Thr117=) rs61751643 0.00001
NM_000249.4(MLH1):c.885-5G>T rs267607802 0.00001
NM_000251.3(MSH2):c.1130A>G (p.Gln377Arg) rs776174711 0.00001
NM_000314.8(PTEN):c.492+31T>C rs1320105617 0.00001
NM_000352.6(ABCC8):c.602C>T (p.Pro201Leu) rs933815442 0.00001
NM_000388.4(CASR):c.2767C>G (p.Pro923Ala) rs201517907 0.00001
NM_000455.5(STK11):c.375-33C>T rs1246317136 0.00001
NM_000455.5(STK11):c.559G>A (p.Gly187Ser) rs587782032 0.00001
NM_000455.5(STK11):c.921-9C>T rs761688641 0.00001
NM_000465.4(BARD1):c.1818T>C (p.His606=) rs199590147 0.00001
NM_000535.7(PMS2):c.1047G>A (p.Lys349=) rs1422380612 0.00001
NM_000535.7(PMS2):c.1352G>A (p.Arg451Lys) rs876660834 0.00001
NM_000535.7(PMS2):c.713G>A (p.Ser238Asn) rs1060503111 0.00001
NM_000535.7(PMS2):c.750C>T (p.Ser250=) rs200439295 0.00001
NM_000546.6(TP53):c.354A>T (p.Thr118=) rs751978853 0.00001
NM_000546.6(TP53):c.783-34C>T rs376988747 0.00001
NM_000546.6(TP53):c.885T>C (p.Pro295=) rs200073907 0.00001
NM_000548.5(TSC2):c.1689C>T (p.Ala563=) rs779858018 0.00001
NM_001042492.3(NF1):c.6642+42T>C rs760581466 0.00001
NM_001048174.2(MUTYH):c.1102+42_1102+43del rs775033999 0.00001
NM_001048174.2(MUTYH):c.1227G>A (p.Arg409=) rs199575659 0.00001
NM_001048174.2(MUTYH):c.1533T>C (p.Thr511=) rs756708148 0.00001
NM_001048174.2(MUTYH):c.887C>T (p.Ser296Leu) rs558173961 0.00001
NM_001048174.2(MUTYH):c.903G>C (p.Val301=) rs749048388 0.00001
NM_001127511.3(APC):c.30C>A (p.Val10=) rs917976853 0.00001
NM_001162498.3(LPAR6):c.819C>A (p.Tyr273Ter) rs749894411 0.00001
NM_001211.6(BUB1B):c.585A>G (p.Gln195=) rs1595518738 0.00001
NM_001244008.2(KIF1A):c.3278A>G (p.Asp1093Gly) rs748846590 0.00001
NM_001348768.2(HECW2):c.452G>A (p.Arg151Gln) rs752395684 0.00001
NM_001370259.2(MEN1):c.188T>A (p.Phe63Tyr) rs1366457977 0.00001
NM_001382430.1(AKT1):c.1172+4A>C rs1319947920 0.00001
NM_002485.5(NBN):c.1902T>G (p.Ala634=) rs876660052 0.00001
NM_002691.4(POLD1):c.1635C>T (p.Tyr545=) rs1057522415 0.00001
NM_002691.4(POLD1):c.197C>G (p.Ala66Gly) rs199792522 0.00001
NM_002691.4(POLD1):c.2717+8G>A rs752674105 0.00001
NM_002691.4(POLD1):c.3120+6A>G rs1231856737 0.00001
NM_002691.4(POLD1):c.317-5C>T rs768082423 0.00001
NM_002872.5(RAC2):c.364G>A (p.Asp122Asn) rs910521882 0.00001
NM_002872.5(RAC2):c.562G>A (p.Ala188Thr) rs758461304 0.00001
NM_002878.4(RAD51D):c.900A>G (p.Arg300=) rs370634278 0.00001
NM_003051.4(SLC16A1):c.404T>C (p.Ile135Thr) rs1570620206 0.00001
NM_003466.4(PAX8):c.1139C>T (p.Thr380Ile) rs987647241 0.00001
NM_004006.3(DMD):c.9388T>G (p.Cys3130Gly) rs932848232 0.00001
NM_004168.4(SDHA):c.1242C>T (p.Pro414=) rs777306884 0.00001
NM_004360.5(CDH1):c.2358C>T (p.Asp786=) rs760701558 0.00001
NM_005228.5(EGFR):c.1840G>A (p.Gly614Ser) rs779076899 0.00001
NM_005228.5(EGFR):c.2862C>T (p.Asp954=) rs397517138 0.00001
NM_005228.5(EGFR):c.869C>T (p.Thr290Ile) rs1020654485 0.00001
NM_005732.4(RAD50):c.3037-6C>T rs1209508205 0.00001
NM_006218.4(PIK3CA):c.1060-9T>C rs750875731 0.00001
NM_006231.4(POLE):c.3276-30C>T rs773248517 0.00001
NM_006231.4(POLE):c.4427T>G (p.Phe1476Cys) rs985504177 0.00001
NM_006231.4(POLE):c.5678+3G>A rs1060500826 0.00001
NM_006231.4(POLE):c.5866G>A (p.Glu1956Lys) rs749992643 0.00001
NM_006231.4(POLE):c.5900C>T (p.Ala1967Val) rs201273415 0.00001
NM_006231.4(POLE):c.6540G>A (p.Ala2180=) rs746976542 0.00001
NM_006231.4(POLE):c.6775C>T (p.Arg2259Trp) rs866548835 0.00001
NM_006245.4(PPP2R5D):c.793A>C (p.Ile265Leu) rs957822115 0.00001
NM_006766.5(KAT6A):c.5776C>G (p.Arg1926Gly) rs900174205 0.00001
NM_007194.3(CHEK2):c.-70A>T rs1264820873 0.00001
NM_007194.4(CHEK2):c.1290T>C (p.His430=) rs373864492 0.00001
NM_007194.4(CHEK2):c.1452G>A (p.Pro484=) rs749156425 0.00001
NM_007294.4(BRCA1):c.-20+28G>A rs904265019 0.00001
NM_007294.4(BRCA1):c.301+12A>C rs863224757 0.00001
NM_007294.4(BRCA1):c.3082C>T (p.Arg1028Cys) rs80357049 0.00001
NM_007294.4(BRCA1):c.3432G>A (p.Gln1144=) rs80356922 0.00001
NM_007294.4(BRCA1):c.4344C>T (p.Ser1448=) rs1250691798 0.00001
NM_007294.4(BRCA1):c.4358-2715C>A rs746972533 0.00001
NM_007294.4(BRCA1):c.4485-10A>G rs863224420 0.00001
NM_007294.4(BRCA1):c.5277+98T>C rs1597810191 0.00001
NM_007294.4(BRCA1):c.5332+15G>C rs80358148 0.00001
NM_015559.3(SETBP1):c.4202G>A (p.Arg1401Gln) rs775975116 0.00001
NM_020937.4(FANCM):c.4465G>A (p.Gly1489Arg) rs183784665 0.00001
NM_020975.6(RET):c.2166G>T (p.Lys722Asn) rs527726480 0.00001
NM_020975.6(RET):c.2289C>T (p.Asn763=) rs777349208 0.00001
NM_024426.6(WT1):c.1017-19C>T rs1398407708 0.00001
NM_024675.4(PALB2):c.1311A>G (p.Lys437=) rs190489275 0.00001
NM_024675.4(PALB2):c.1611G>A (p.Ser537=) rs730881874 0.00001
NM_024675.4(PALB2):c.1923A>G (p.Lys641=) rs775283927 0.00001
NM_024675.4(PALB2):c.212-6C>T rs1416424510 0.00001
NM_024675.4(PALB2):c.495C>T (p.Gly165=) rs200937538 0.00001
NM_025077.4(TOE1):c.52+130A>G rs1215187269 0.00001
NM_025077.4(TOE1):c.52+97G>A rs992028783 0.00001
NM_032043.2(BRIP1):c.2097+8A>C rs730881642 0.00001
NM_032043.3(BRIP1):c.-225G>A rs1603369188 0.00001
NM_032043.3(BRIP1):c.-56C>G rs1054876315 0.00001
NM_032043.3(BRIP1):c.1455T>C (p.Ala485=) rs773489367 0.00001
NM_032043.3(BRIP1):c.3122T>C (p.Met1041Thr) rs761225576 0.00001
NM_033343.4(LHX4):c.250C>T (p.Arg84Cys) rs121912642 0.00001
NM_058216.3(RAD51C):c.141C>T (p.Ser47=) rs568912602 0.00001
NM_058216.3(RAD51C):c.145+11C>G rs1263551026 0.00001
NM_133433.4(NIPBL):c.5195A>G (p.Lys1732Arg) rs775226349 0.00001
NC_000002.12:g.214809692G>A rs551544754
NC_000011.10:g.108222768C>T rs1056339095
NC_000017.11:g.43125443A>C rs113323025
NM_000038.6(APC):c.*409_*414dup rs397817775
NM_000038.6(APC):c.278T>A (p.Leu93His) rs876658977
NM_000038.6(APC):c.4765C>G (p.Arg1589Gly) rs72541813
NM_000038.6(APC):c.7089A>G (p.Lys2363=) rs864622761
NM_000038.6(APC):c.7391C>G (p.Ser2464Cys) rs766473931
NM_000051.3(ATM):c.-328A>T rs4987880
NM_000051.4(ATM):c.-15C>T rs1204830852
NM_000051.4(ATM):c.1236-2_1236-1del rs1591522638
NM_000051.4(ATM):c.1243A>T (p.Ile415Phe) rs1591522756
NM_000051.4(ATM):c.1245_1246insTTTTTT (p.Ile415_Ala416insPhePhe) rs1591522786
NM_000051.4(ATM):c.1273G>T (p.Ala425Ser) rs769214234
NM_000051.4(ATM):c.1825G>C (p.Glu609Gln) rs779780896
NM_000051.4(ATM):c.2376+9TTC[2] rs757318914
NM_000051.4(ATM):c.4109+8C>T rs1591656404
NM_000051.4(ATM):c.4236+7A>G rs1207435429
NM_000051.4(ATM):c.504C>T (p.Phe168=) rs1060504312
NM_000051.4(ATM):c.5306C>A (p.Thr1769Lys) rs1192250974
NM_000051.4(ATM):c.5309C>A (p.Ser1770Ter) rs121434223
NM_000051.4(ATM):c.5715A>G (p.Ser1905=) rs1057524579
NM_000051.4(ATM):c.6348-9A>T rs1591099349
NM_000051.4(ATM):c.6987C>G (p.Ser2329Arg) rs1591142078
NM_000051.4(ATM):c.7248C>T (p.Leu2416=) rs750513866
NM_000051.4(ATM):c.7789-8A>T rs1591177900
NM_000051.4(ATM):c.8313A>C (p.Thr2771=) rs1555135563
NM_000051.4(ATM):c.8893T>C (p.Leu2965=) rs1060504287
NM_000051.4(ATM):c.9112C>A (p.Gln3038Lys) rs1591387978
NM_000052.7(ATP7A):c.1856T>C (p.Ile619Thr) rs1569549841
NM_000052.7(ATP7A):c.3132T>C (p.Asp1044=) rs797045370
NM_000057.4(BLM):c.1088-38C>T rs758949040
NM_000057.4(BLM):c.1088-39C>T rs878957002
NM_000057.4(BLM):c.1216A>G (p.Ile406Val) rs769498398
NM_000057.4(BLM):c.2074+56G>A rs942432763
NM_000057.4(BLM):c.2141C>G (p.Ser714Cys)
NM_000057.4(BLM):c.2556-8T>C rs1567052156
NM_000057.4(BLM):c.543C>A (p.Ser181Arg) rs761288442
NM_000059.3(BRCA2):c.-200C>G rs1026273725
NM_000059.4(BRCA2):c.*838_*839del rs75353978
NM_000059.4(BRCA2):c.-174T>G rs1593879677
NM_000059.4(BRCA2):c.-39-5del rs276174800
NM_000059.4(BRCA2):c.10094_10095insGAATTATAT (p.Val3365_Ser3366insAsnTyrIle) rs758307938
NM_000059.4(BRCA2):c.10250A>G (p.Tyr3417Cys) rs730881600
NM_000059.4(BRCA2):c.1247T>G (p.Ile416Ser) rs80358418
NM_000059.4(BRCA2):c.1909+9_1909+10del rs527732001
NM_000059.4(BRCA2):c.1910-46T>G rs1593895720
NM_000059.4(BRCA2):c.2568T>A (p.Asn856Lys) rs1166285186
NM_000059.4(BRCA2):c.317-97A>G rs1255534605
NM_000059.4(BRCA2):c.3786A>T (p.Ser1262=) rs1042077901
NM_000059.4(BRCA2):c.3858_3860del (p.Lys1286del) rs80359406
NM_000059.4(BRCA2):c.475+10A>G
NM_000059.4(BRCA2):c.489T>C (p.Ser163=) rs398122787
NM_000059.4(BRCA2):c.4928T>C (p.Val1643Ala) rs28897731
NM_000059.4(BRCA2):c.4973A>G (p.Gln1658Arg) rs1593903991
NM_000059.4(BRCA2):c.501A>G (p.Thr167=) rs750805758
NM_000059.4(BRCA2):c.5912C>G (p.Ser1971Cys) rs1593906913
NM_000059.4(BRCA2):c.6095C>T (p.Ala2032Val) rs786202701
NM_000059.4(BRCA2):c.6583G>A (p.Gly2195Ser) rs1593909184
NM_000059.4(BRCA2):c.7008-43T>C rs1418463336
NM_000059.4(BRCA2):c.794-22C>T rs1566222022
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000059.4(BRCA2):c.9011A>G (p.Lys3004Arg) rs587782779
NM_000059.4(BRCA2):c.9257-8C>T rs11571819
NM_000059.4(BRCA2):c.9375C>G (p.Leu3125=) rs276174924
NM_000059.4(BRCA2):c.9375C>T (p.Leu3125=) rs276174924
NM_000059.4(BRCA2):c.9501+44T>G rs887669613
NM_000059.4(BRCA2):c.9521A>G (p.Asn3174Ser) rs1555289773
NM_000059.4(BRCA2):c.956A>C (p.Asn319Thr) rs55939572
NM_000061.3(BTK):c.684G>A (p.Met228Ile) rs1926635223
NM_000069.3(CACNA1S):c.3071T>C (p.Ile1024Thr) rs978624647
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA
NM_000075.4(CDK4):c.523-20A>T rs1595110299
NM_000077.5(CDKN2A):c.150+11G>A rs1587339427
NM_000077.5(CDKN2A):c.150+137T>G rs1587338978
NM_000077.5(CDKN2A):c.369T>A (p.His123Gln) rs6413463
NM_000077.5(CDKN2A):c.369T>C (p.His123=) rs6413463
NM_000081.4(LYST):c.3025C>A (p.Gln1009Lys)
NM_000136.3(FANCC):c.-79+98A>G rs1408056644
NM_000136.3(FANCC):c.1329+10A>G rs977427150
NM_000136.3(FANCC):c.165+11G>C rs1588353233
NM_000136.3(FANCC):c.17T>C (p.Val6Ala) rs527289778
NM_000136.3(FANCC):c.687-5G>T rs767811745
NM_000136.3(FANCC):c.844-10_844-8del rs758617953
NM_000143.4(FH):c.1237-50TC[21] rs144131869
NM_000170.3(GLDC):c.2316-6dup rs3215923
NM_000173.7(GP1BA):c.1282_1359del (p.415_427SEPAPSPTTPEPT[1]) rs869060239
NM_000179.3(MSH6):c.-46T>G rs748339592
NM_000179.3(MSH6):c.1420G>C (p.Val474Leu) rs1558661621
NM_000179.3(MSH6):c.183G>C (p.Ala61=) rs1060504757
NM_000179.3(MSH6):c.3151G>A (p.Val1051Ile) rs576269342
NM_000179.3(MSH6):c.3153A>G (p.Val1051=) rs1057521587
NM_000179.3(MSH6):c.3172+230_3172+231dup rs10666222
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.334A>G (p.Asn112Asp) rs864622397
NM_000179.3(MSH6):c.3557-16T>A rs1259754363
NM_000179.3(MSH6):c.3557-2del rs587779271
NM_000179.3(MSH6):c.3557-4del rs267608102
NM_000179.3(MSH6):c.3636G>T (p.Val1212=) rs1363247790
NM_000179.3(MSH6):c.378A>G (p.Ser126=) rs1572708845
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.4002-11_4002-10del rs59056100
NM_000179.3(MSH6):c.4002-36C>A rs983280767
NM_000179.3(MSH6):c.423C>G (p.Gly141=) rs777587467
NM_000179.3(MSH6):c.457+32TG[12] rs397839804
NM_000179.3(MSH6):c.520A>C (p.Arg174=) rs1405000889
NM_000179.3(MSH6):c.818G>T (p.Gly273Val) rs769610487
NM_000194.3(HPRT1):c.134+6_134+9del rs794727238
NM_000208.4(INSR):c.1513A>G (p.Ile505Val) rs1599937384
NM_000208.4(INSR):c.3661T>G (p.Ser1221Ala) rs201979105
NM_000214.3(JAG1):c.2101A>C (p.Thr701Pro) rs79176844
NM_000215.4(JAK3):c.2773C>A (p.Arg925Ser) rs149452625
NM_000245.4(MET):c.1393-2A>T rs1584921898
NM_000245.4(MET):c.1973T>C (p.Val658Ala) rs1584941533
NM_000245.4(MET):c.2103-1G>T rs1336351205
NM_000245.4(MET):c.2103-2A>T rs1470403316
NM_000245.4(MET):c.252C>T (p.Tyr84=) rs1584876265
NM_000245.4(MET):c.2584-1G>T rs1240673121
NM_000245.4(MET):c.2584-3C>T rs1337305891
NM_000245.4(MET):c.465G>T (p.Gln155His) rs863224695
NM_000245.4(MET):c.850A>G (p.Ile284Val) rs776014448
NM_000249.4(MLH1):c.1038+8C>T rs751872237
NM_000249.4(MLH1):c.116+27C>T rs1575377948
NM_000249.4(MLH1):c.1281del (p.Asp428fs) rs1575536988
NM_000249.4(MLH1):c.1559-16A>T rs769709911
NM_000249.4(MLH1):c.1587C>T (p.Ser529=) rs767089159
NM_000249.4(MLH1):c.253C>T (p.Leu85=) rs63750659
NM_000249.4(MLH1):c.885-21TC[2] rs267607804
NM_000251.2(MSH2):c.-68G>A rs576303132
NM_000251.3(MSH2):c.-21A>T rs776559145
NM_000251.3(MSH2):c.1389G>T (p.Val463=) rs1553365702
NM_000251.3(MSH2):c.1746C>T (p.Val582=) rs786201486
NM_000251.3(MSH2):c.2005+8dup rs267607992
NM_000251.3(MSH2):c.2210+8C>T rs778020437
NM_000251.3(MSH2):c.2459-46G>A rs1573578232
NM_000251.3(MSH2):c.2801C>T (p.Thr934Met) rs587779969
NM_000251.3(MSH2):c.793-10T>G rs1060502016
NM_000251.3(MSH2):c.942+25_942+29del rs11309117
NM_000251.3(MSH2):c.942+28_942+29del rs11309117
NM_000257.4(MYH7):c.3337-4dup rs45504498
NM_000268.4(NF2):c.363+9G>T rs1601583861
NM_000311.5(PRNP):c.246_269del (p.60_67PHGGGWGQ[3]) rs138688873
NM_000314.8(PTEN):c.*3448_*3463dup rs763859619
NM_000314.8(PTEN):c.*3449_*3463dup rs763859619
NM_000314.8(PTEN):c.-513G>C rs546504608
NM_000314.8(PTEN):c.-802G>A rs876661166
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000314.8(PTEN):c.493-27G>T rs1589659262
NM_000314.8(PTEN):c.802-5_802-3dup rs34003473
NM_000321.3(RB1):c.2521-4G>T rs902298592
NM_000335.5(SCN5A):c.1372C>T (p.Arg458Cys) rs752130196
NM_000350.3(ABCA4):c.5196+1136C>A rs114147805
NM_000350.3(ABCA4):c.6007A>T (p.Ile2003Phe) rs1170554250
NM_000368.5(TSC1):c.2626-3_2626-2insT rs760737807
NM_000400.4(ERCC2):c.1845G>A (p.Gly615=) rs1599725250
NM_000426.4(LAMA2):c.6551T>C (p.Phe2184Ser) rs398123381
NM_000455.5(STK11):c.-280C>A rs893914050
NM_000455.5(STK11):c.-551C>T rs1316450313
NM_000455.5(STK11):c.-95G>T rs1323638467
NM_000455.5(STK11):c.-99C>T rs1407068597
NM_000465.4(BARD1):c.-107G>T rs1574870750
NM_000465.4(BARD1):c.1075_1095del (p.Leu359_Pro365del) rs28997575
NM_000465.4(BARD1):c.1662T>C (p.Ala554=) rs1402521170
NM_000465.4(BARD1):c.1904-626G>T rs1172986637
NM_000465.4(BARD1):c.216-12A>T rs199846428
NM_000465.4(BARD1):c.2191C>G (p.Arg731Gly) rs76744638
NM_000520.6(HEXA):c.539A>C (p.Tyr180Ser) rs200513831
NM_000525.4(KCNJ11):c.28G>C (p.Glu10Gln) rs587783667
NM_000535.7(PMS2):c.1437C>G (p.His479Gln) rs63750685
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.353+7C>G rs1057520512
NM_000535.7(PMS2):c.538-8T>C rs922948916
NM_000546.6(TP53):c.-43G>T rs1166313179
NM_000546.6(TP53):c.285T>G (p.Ser95=) rs876658696
NM_000546.6(TP53):c.376-158del rs5819162
NM_000546.6(TP53):c.376-160_376-158del rs5819162
NM_000546.6(TP53):c.376-161_376-158del rs5819162
NM_000546.6(TP53):c.993+257del rs1373684374
NM_000548.5(TSC2):c.2027G>C (p.Gly676Ala) rs754556513
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del) rs137854239
NM_000548.5(TSC2):c.5068+27_5069-47del
NM_000631.5(NCF4):c.106A>C (p.Thr36Pro) rs200818199
NM_000639.3(FASLG):c.209C>G (p.Pro70Arg) rs1317103645
NM_000718.4(CACNA1B):c.2988CACGGAGAAGGAGGC[1] (p.997TEKEA[1]) rs758502874
NM_000791.4(DHFR):c.-409_-392del rs201874762
NM_000834.5(GRIN2B):c.-205A>T rs1347159255
NM_001009944.3(PKD1):c.8672CCAACTCCG[3] (p.2891ANS[3]) rs763199524
NM_001018115.3(FANCD2):c.2022-5C>T rs4019784
NM_001018115.3(FANCD2):c.3278T>A (p.Val1093Asp)
NM_001024630.4(RUNX2):c.225GGCGGCTGCGGCGGCGGC[1] (p.Ala84_Ala89del) rs11498192
NM_001032382.2(PQBP1):c.334_354del (p.Gly113_Arg119del) rs606231198
NM_001034853.2(RPGR):c.2987AAG[2] (p.Glu998del) rs1356107537
NM_001035.3(RYR2):c.14223_14224insTTTTT (p.His4742fs) rs1574034151
NM_001042492.3(NF1):c.3198-6_3198-1del rs1597718651
NM_001042492.3(NF1):c.3199G>T (p.Asp1067Tyr) rs1597718721
NM_001042492.3(NF1):c.3204G>T (p.Leu1068Phe) rs1258842007
NM_001042492.3(NF1):c.4174-8_4174-6del rs751729752
NM_001042492.3(NF1):c.61-1G>T rs1263745475
NM_001042492.3(NF1):c.64C>T (p.Pro22Ser) rs1597625794
NM_001042492.3(NF1):c.8377+6509A>T rs1343721620
NM_001048166.1(STIL):c.2594A>C (p.Asn865Thr) rs201989960
NM_001048174.2(MUTYH):c.607-18_607-17del rs765157527
NM_001075098.3(MOCS1):c.[853G>A;c.1015C>T]
NM_001110792.2(MECP2):c.*98dup rs267608341
NM_001110792.2(MECP2):c.62+5469A>T rs1557149865
NM_001113378.2(FANCI):c.1583+4T>C
NM_001113378.2(FANCI):c.2636+11C>G rs1596307878
NM_001113378.2(FANCI):c.3652-70_3652-69del rs11321073
NM_001122630.2(CDKN1C):c.771C>T (p.Ser257=) rs747104008
NM_001127222.2(CACNA1A):c.7266_7271del (p.Ser2423_Gly2424del) rs775428832
NM_001128840.3(CACNA1D):c.1013T>G (p.Val338Gly) rs201471889
NM_001134407.3(GRIN2A):c.314A>G (p.Asp105Gly) rs797045015
NM_001134407.3(GRIN2A):c.3317_3318insTTTTTTTTTTAAT (p.Lys1107fs) rs1419346546
NM_001134407.3(GRIN2A):c.3320A>T (p.Lys1107Ile) rs1185300490
NM_001134407.3(GRIN2A):c.3321_3322insCGGCG (p.Thr1108fs) rs1215972111
NM_001134407.3(GRIN2A):c.3345_3347del (p.Asp1115_Lys1116delinsGlu) rs1440127051
NM_001134771.2(SLC12A5):c.121+1091A>G rs58366483
NM_001146262.4(SYT14):c.672AGA[1] (p.Glu225del) rs2307890
NM_001162498.3(LPAR6):c.369_370del (p.Lys123fs) rs1177544722
NM_001165963.4(SCN1A):c.4003-14C>T rs1241008825
NM_001194998.2(CEP152):c.4378_4379del (p.Val1460fs) rs141600901
NM_001195248.2(APTX):c.484-3_484-2insTTTTTTTTTTTG rs1554664711
NM_001197104.2(KMT2A):c.3019G>T (p.Gly1007Cys) rs940325244
NM_001220.5(CAMK2B):c.1636A>C (p.Ile546Leu) rs2128862429
NM_001231.5(CASQ1):c.448G>T (p.Val150Leu) rs775466623
NM_001252024.2(TRPM1):c.2149G>C (p.Ala717Pro) rs138944426
NM_001267550.2(TTN):c.30683-3del rs368277751
NM_001282531.3(ADNP):c.422_424dup (p.Ser141dup) rs577498739
NM_001301202.2(RASAL1):c.-64C>T rs1389672398
NM_001301202.2(RASAL1):c.1775G>A (p.Arg592His)
NM_001302746.1(FASLG):c.-187_-186GA[4] rs55853758
NM_001323289.2(CDKL5):c.1691A>G (p.His564Arg) rs1602286720
NM_001363118.2(SLC52A2):c.353C>A (p.Ala118Asp) rs117500243
NM_001365276.2(TNXB):c.12224G>A (p.Arg4075His) rs201510617
NM_001365902.3(NFIX):c.28-891dup rs113861190
NM_001365951.3(KIF1B):c.363+9C>A rs1569599409
NM_001368894.2(PAX6):c.*21del (p.Ter437=) rs759391101
NM_001370259.2(MEN1):c.-23-1G>A rs2136197853
NM_001371928.1(AHDC1):c.3254CCT[6] (p.Ser1091del) rs530256606
NM_001372051.1(CASP8):c.803-2881_803-2880insATCTATCAATGTTATGCCCACTGTGCTCTCCAGCTGTGGTCTG rs1559369386
NM_001372066.1(TFAP2A):c.493G>C (p.Glu165Gln) rs1581265556
NM_001374828.1(ARID1B):c.6793G>A (p.Asp2265Asn) rs2128398514
NM_001376.5(DYNC1H1):c.7979T>G (p.Val2660Gly) rs201272954
NM_001378120.1(MBD5):c.2605G>A (p.Val869Ile) rs116207524
NM_001378615.1(CC2D2A):c.676GAA[3] (p.Glu229del) rs386833764
NM_001379029.1(CERT1):c.349-3dup rs540751366
NM_001379500.1(COL18A1):c.2829_2846del (p.938PGP[2]) rs78227997
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del) rs533875300
NM_001493.3(GDI1):c.491A>C (p.Gln164Pro) rs1032352955
NM_001609.4(ACADSB):c.1128+20_1128+26dup rs10571424
NM_002485.5(NBN):c.2020G>A (p.Gly674Ser) rs1563513091
NM_002485.5(NBN):c.320+40G>T rs749797574
NM_002485.5(NBN):c.584+7T>A rs1057523869
NM_002485.5(NBN):c.832T>G (p.Ser278Ala) rs1225178489
NM_002529.4(NTRK1):c.1501+35GT[12] rs56185968
NM_002691.4(POLD1):c.1686+43G>T rs201197467
NM_002691.4(POLD1):c.2155-5G>A rs891420901
NM_002691.4(POLD1):c.2157C>T (p.Ser719=) rs760678755
NM_002691.4(POLD1):c.3067+11del rs780881147
NM_002691.4(POLD1):c.3121-33G>C rs376468859
NM_002691.4(POLD1):c.657C>T (p.Leu219=) rs777751728
NM_002691.4(POLD1):c.900G>A (p.Pro300=) rs142407935
NM_002734.5(PRKAR1A):c.349-5T>C rs1456043929
NM_002834.5(PTPN11):c.643-61_643-38del rs1592831434
NM_002875.5(RAD51):c.1dup (p.Met1fs) rs55714242
NM_002875.5(RAD51):c.671C>G (p.Ala224Gly)
NM_002878.4(RAD51D):c.263+1551G>T rs780006577
NM_002907.4(RECQL):c.-67T>C rs1172083327
NM_002907.4(RECQL):c.214+6C>T rs768701992
NM_002907.4(RECQL):c.395-7del rs1591984814
NM_003072.5(SMARCA4):c.2297T>G (p.Val766Gly) rs201128299
NM_003413.4(ZIC3):c.135CGC[8] (p.Ala55del) rs748325646
NM_003482.4(KMT2D):c.14140A>T (p.Ile4714Phe) rs1592110609
NM_003482.4(KMT2D):c.2250_2276del (p.746RPEEPHLSP[1]) rs587778449
NM_003482.4(KMT2D):c.8046+4del rs1592133674
NM_003673.4(TCAP):c.34GAG[1] (p.Glu13del) rs397516862
NM_003719.5(PDE8B):c.1031T>G (p.Val344Gly) rs767230883
NM_003722.5(TP63):c.1350-6315C>A rs1577182394
NM_003722.5(TP63):c.325-18543_325-18542insAGAG rs34201045
NM_003865.3(HESX1):c.460-7A>G rs1579346889
NM_004006.3(DMD):c.1098A>T (p.Gly366=) rs72470507
NM_004006.3(DMD):c.1412C>T (p.Thr471Ile) rs201058100
NM_004006.3(DMD):c.3603G>A (p.Lys1201=) rs1265370991
NM_004006.3(DMD):c.5326-11_5326-7dup rs398123988
NM_004006.3(DMD):c.94-1G>T rs863225016
NM_004006.3(DMD):c.94-2A>T rs1603448428
NM_004168.4(SDHA):c.622-7C>T rs759371428
NM_004172.5(SLC1A3):c.745T>G (p.Phe249Val) rs547834086
NM_004316.4(ASCL1):c.121G>T (p.Ala41Ser) rs545982257
NM_004333.6(BRAF):c.1310G>A (p.Arg437Gln) rs998233805
NM_004360.5(CDH1):c.*179G>T rs1596977076
NM_004360.5(CDH1):c.*780del rs968192426
NM_004360.5(CDH1):c.-57C>T rs981792194
NM_004360.5(CDH1):c.1416C>T (p.Thr472=) rs139937234
NM_004360.5(CDH1):c.32TGC[4] (p.Leu15del) rs587782476
NM_004360.5(CDH1):c.687+56del rs771109236
NM_004380.3(CREBBP):c.2383_2400dup (p.Pro795_Pro800dup) rs1596895167
NM_004380.3(CREBBP):c.712G>C (p.Val238Leu) rs146887252
NM_004577.4(PSPH):c.95A>G (p.Asp32Gly) rs78599516
NM_004628.5(XPC):c.2348C>T (p.Ala783Val)
NM_004807.3(HS6ST1):c.1112G>A (p.Arg371His) rs147436494
NM_004807.3(HS6ST1):c.261C>A (p.Asp87Glu) rs200979099
NM_004807.3(HS6ST1):c.745C>A (p.Arg249Ser) rs3958533
NM_004933.3(CDH15):c.1999_2004del (p.Tyr667_Asp668del) rs749690403
NM_004933.3(CDH15):c.767A>T (p.Asn256Ile) rs756845157
NM_004963.4(GUCY2C):c.2155G>C (p.Glu719Gln) rs895214647
NM_004963.4(GUCY2C):c.949-5T>G rs1403237949
NM_004977.3(KCNC3):c.1737ACCCCCGCC[1] (p.Pro583_Pro585del) rs747618525
NM_005215.4(DCC):c.3703A>C (p.Met1235Leu) rs1284447482
NM_005219.5(DIAPH1):c.3152C>T (p.Ser1051Phe) rs868531732
NM_005228.5(EGFR):c.-106G>A rs895139219
NM_005228.5(EGFR):c.1472T>C (p.Ile491Thr) rs1584190119
NM_005228.5(EGFR):c.1920-100A>G rs1584221726
NM_005228.5(EGFR):c.2896A>G (p.Ile966Val) rs1383485737
NM_005228.5(EGFR):c.3245T>G (p.Ile1082Arg) rs1051476261
NM_005228.5(EGFR):c.509G>A (p.Ser170Asn) rs758945260
NM_005228.5(EGFR):c.551T>A (p.Leu184Gln) rs921852102
NM_005228.5(EGFR):c.551T>C (p.Leu184Pro) rs921852102
NM_005236.3(ERCC4):c.1102+36dup rs761458435
NM_005263.5(GFI1):c.-100+686C>A rs1018517928
NM_005360.5(MAF):c.-30GGC[4] rs5818251
NM_005445.4(SMC3):c.2215A>G (p.Met739Val) rs1590567950
NM_005475.3(SH2B3):c.1493T>C (p.Leu498Pro)
NM_005634.3(SOX3):c.14G>C (p.Arg5Pro) rs112180170
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val) rs35031397
NM_006015.6(ARID1A):c.5015T>G (p.Val1672Gly) rs749291779
NM_006218.4(PIK3CA):c.1743C>T (p.Ala581=) rs370692448
NM_006231.4(POLE):c.1520T>C (p.Val507Ala) rs904849438
NM_006231.4(POLE):c.2090C>G (p.Pro697Arg) rs36120395
NM_006231.4(POLE):c.2340G>C (p.Ser780=) rs5744822
NM_006231.4(POLE):c.2811C>T (p.Tyr937=) rs1593777350
NM_006231.4(POLE):c.2865-17_2865-14dup rs369732588
NM_006231.4(POLE):c.2865-3C>T rs1203095918
NM_006231.4(POLE):c.2865-3_2865del rs1593776411
NM_006231.4(POLE):c.3275+38_3275+88del rs1565955594
NM_006231.4(POLE):c.3582+34G>A rs753702996
NM_006231.4(POLE):c.4645C>G (p.Pro1549Ala) rs147500308
NM_006231.4(POLE):c.5679-3C>T rs1555221512
NM_006231.4(POLE):c.6137-50C>T rs779908266
NM_006231.4(POLE):c.6334C>T (p.Leu2112=) rs373443211
NM_006231.4(POLE):c.6765C>T (p.Ile2255=) rs376336585
NM_006265.3(RAD21):c.815-17_815-5del rs35902828
NM_006415.4(SPTLC1):c.1160G>C (p.Gly387Ala) rs119482084
NM_006514.4(SCN10A):c.1246AAG[1] (p.Lys417del) rs758898721
NM_006514.4(SCN10A):c.41G>T (p.Arg14Leu) rs141207048
NM_006662.3(SRCAP):c.2752A>C (p.Thr918Pro) rs756223991
NM_006766.5(KAT6A):c.5040_5051del (p.1677_1680QQPQ[1]) rs548231613
NM_006812.4(OS9):c.993+5G>A
NM_007194.4(CHEK2):c.319+3851G>T rs1601841500
NM_007194.4(CHEK2):c.319+3980C>T rs1045958480
NM_007194.4(CHEK2):c.444+9T>C rs1437978013
NM_007194.4(CHEK2):c.592+50A>C rs17881298
NM_007194.4(CHEK2):c.593-2089T>C rs1012399282
NM_007194.4(CHEK2):c.593-2151A>T rs1411302770
NM_007194.4(CHEK2):c.593-2162_593-2156dup rs199835095
NM_007194.4(CHEK2):c.99A>G (p.Ser33=) rs925489951
NM_007294.4(BRCA1):c.*855_*873A[20]GAAAAAAAAAAAAAAAAAAAAAA[1] rs59541324
NM_007294.4(BRCA1):c.*865_*873dup rs59541324
NM_007294.4(BRCA1):c.-20+5T>C rs1057524628
NM_007294.4(BRCA1):c.-53C>T rs1597925819
NM_007294.4(BRCA1):c.1843TCT[1] (p.Ser616del) rs80358329
NM_007294.4(BRCA1):c.2083G>T (p.Asp695Tyr) rs28897681
NM_007294.4(BRCA1):c.2232T>G (p.Ala744=) rs4986846
NM_007294.4(BRCA1):c.2859T>C (p.Cys953=) rs1597867228
NM_007294.4(BRCA1):c.3600G>T (p.Gln1200His) rs56214134
NM_007294.4(BRCA1):c.3627A>G (p.Leu1209=) rs770579978
NM_007294.4(BRCA1):c.4096+43G>A rs1597859241
NM_007294.4(BRCA1):c.4484+32A>G rs1597838919
NM_007294.4(BRCA1):c.4676-44A>C rs989129232
NM_007294.4(BRCA1):c.5064T>C (p.Val1688=) rs1567771967
NM_007294.4(BRCA1):c.5153-31A>T rs370536578
NM_007294.4(BRCA1):c.5333-873T>C rs943672382
NM_007294.4(BRCA1):c.5468-49C>T rs1597797362
NM_007294.4(BRCA1):c.594-16dup rs1555593635
NM_007294.4(BRCA1):c.671-18_671-16del rs398122354
NM_007294.4(BRCA1):c.81-14C>G rs80358006
NM_007327.4(GRIN1):c.1782GGA[4] (p.Glu598del) rs768704257
NM_007348.4(ATF6):c.1191G>T (p.Met397Ile) rs1285628089
NM_012062.5(DNM1L):c.1571T>C (p.Leu524Ser) rs1031075173
NM_012151.4(F8A1):c.1097C>G (p.Pro366Arg) rs1603432445
NM_012330.4(KAT6B):c.4065GGA[3] (p.Glu1367_Glu1368del) rs367634881
NM_012330.4(KAT6B):c.4079AAGAGGAAG[2] (p.Glu1366_Glu1368del) rs375513122
NM_014210.4(EVI2A):c.386ACA[3] (p.Asn132del) rs773381280
NM_014225.6(PPP2R1A):c.754G>A (p.Ala252Thr) rs1369485535
NM_014423.4(AFF4):c.2108C>T (p.Ser703Leu) rs1581278077
NM_014491.4(FOXP2):c.483ACAACAGCAGCA[3] (p.Gln188_Gln191dup) rs761316361
NM_014515.7(CNOT2):c.*10_*23del (p.Ter541=) rs35192504
NM_014675.5(CROCC):c.2707C>A (p.Arg903Ser) rs114863724
NM_014846.4(WASHC5):c.420T>A (p.Cys140Ter) rs148562491
NM_015100.4(POGZ):c.2789C>G (p.Pro930Arg) rs145570114
NM_015166.4(MLC1):c.1052_1053insCGGGGAGGTGAGTGGCCTGTGGGGTGGGGGTGC (p.Val354_Ala355insSerGlyLeuTrpGlyGlyGlyAlaGlyGluVal) rs745656804
NM_015278.5(SASH1):c.2642C>T (p.Pro881Leu)
NM_015443.4(KANSL1):c.2710GAG[1] (p.Glu905del) rs551968687
NM_016169.4(SUFU):c.37A>C (p.Thr13Pro) rs1456048322
NM_016222.4(DDX41):c.1302+3G>A
NM_016327.3(UPB1):c.47A>C (p.His16Pro) rs199934207
NM_016373.4(WWOX):c.*200GGGCT[1] rs144412859
NM_016734.3(PAX5):c.1013-6A>G rs1587737218
NM_017617.5(NOTCH1):c.1045A>C (p.Thr349Pro) rs200520088
NM_017617.5(NOTCH1):c.1756A>C (p.Thr586Pro) rs764854903
NM_017617.5(NOTCH1):c.580A>C (p.Thr194Pro) rs770333242
NM_017617.5(NOTCH1):c.931A>C (p.Thr311Pro) rs202145498
NM_017649.5(CNNM2):c.2240A>G (p.Asn747Ser) rs988049940
NM_017950.4(CCDC40):c.2832+332_2832+395del rs1567813101
NM_018993.4(RIN2):c.1642G>A (p.Val548Met) rs181298473
NM_020822.3(KCNT1):c.618G>T (p.Gln206His) rs958688368
NM_020975.6(RET):c.2342A>G (p.Gln781Arg) rs377767416
NM_020975.6(RET):c.2592T>C (p.Tyr864=) rs1588877395
NM_020975.6(RET):c.2847A>G (p.Gly949=) rs886046989
NM_020975.6(RET):c.44TGC[4] (p.Leu19del) rs768132465
NM_020987.5(ANK3):c.1690-15_1690-14dup rs34796699
NM_021072.4(HCN1):c.203GCG[4] (p.Gly72_Gly74del) rs747975797
NM_021072.4(HCN1):c.203GCG[6] (p.Gly74del) rs747975797
NM_021267.5(CERS1):c.248G>A (p.Arg83Gln) rs1601197103
NM_021625.5(TRPV4):c.1675_1698del (p.Leu559_Leu566del) rs1890129676
NM_022055.2(KCNK12):c.*8388G>T rs1573613933
NM_022055.2(KCNK12):c.*8538C>T
NM_022124.6(CDH23):c.6433G>A (p.Val2145Met) rs780523589
NM_022168.4(IFIH1):c.229C>T (p.Arg77Trp) rs147278787
NM_024426.6(WT1):c.662-2031G>A rs1005247939
NM_024675.4(PALB2):c.-23C>T rs1597106322
NM_024675.4(PALB2):c.-66C>T rs1597106467
NM_024675.4(PALB2):c.1089T>C (p.Asp363=) rs1597097155
NM_024675.4(PALB2):c.1226A>G (p.Tyr409Cys) rs878855097
NM_024675.4(PALB2):c.1685-28T>C rs1597091553
NM_024675.4(PALB2):c.1917G>T (p.Glu639Asp) rs1597090787
NM_024675.4(PALB2):c.212-50dup rs759760268
NM_024675.4(PALB2):c.212-8C>T rs1387711045
NM_024675.4(PALB2):c.212-9C>T rs1555461884
NM_024675.4(PALB2):c.2961A>G (p.Gln987=) rs1555459530
NM_024675.4(PALB2):c.2996+9del rs769414858
NM_024675.4(PALB2):c.49-432A>G rs1597102250
NM_024757.5(EHMT1):c.1553C>G (p.Pro518Arg) rs1287556019
NM_024757.5(EHMT1):c.389_397del (p.Pro130_Leu132del) rs1588328189
NM_025077.4(TOE1):c.52+76A>G rs547694371
NM_030665.4(RAI1):c.3778GAG[1] (p.Glu1261del) rs149716029
NM_031220.4(PITPNM3):c.2177T>G (p.Met726Arg) rs761710050
NM_031407.7(HUWE1):c.4546C>G (p.Gln1516Glu) rs1602910127
NM_032043.3(BRIP1):c.-165A>G rs1603369145
NM_032043.3(BRIP1):c.1932A>T (p.Ser644=) rs1603332998
NM_032043.3(BRIP1):c.1935+8G>T rs767048212
NM_032043.3(BRIP1):c.2098-8C>T rs917048033
NM_032043.3(BRIP1):c.2181A>G (p.Pro727=) rs1603304559
NM_032043.3(BRIP1):c.2379+7C>T rs1057520464
NM_032043.3(BRIP1):c.2905+31T>C rs1603276473
NM_032043.3(BRIP1):c.3651G>T (p.Trp1217Cys) rs542698396
NM_032043.3(BRIP1):c.380-6T>C rs780921390
NM_032043.3(BRIP1):c.408A>C (p.Ala136=) rs876660891
NM_032043.3(BRIP1):c.507+9_507+10del rs747185394
NM_032043.3(BRIP1):c.588C>G (p.Asn196Lys) rs758851721
NM_032977.4(CASP10):c.1321G>A (p.Ala441Thr) rs760580885
NM_033163.5(FGF8):c.506C>T (p.Ala169Val) rs1589809739
NM_033343.4(LHX4):c.608T>G (p.Val203Gly) rs201275928
NM_054012.4(ASS1):c.323G>T (p.Arg108Leu) rs35269064
NM_058195.4(CDKN2A):c.194-3653G>A rs1800586
NM_058195.4(CDKN2A):c.194-3834C>G rs917599759
NM_058195.4(CDKN2A):c.194-3853_194-3852insGCG rs1587341124
NM_058195.4(CDKN2A):c.194-3854_194-3853insGTG rs1587341128
NM_058216.3(RAD51C):c.115C>T (p.Leu39=) rs759149207
NM_058216.3(RAD51C):c.145+15T>C rs780116924
NM_058216.3(RAD51C):c.262C>T (p.Leu88=) rs786201383
NM_058216.3(RAD51C):c.335G>C (p.Gly112Ala) rs370212314
NM_058216.3(RAD51C):c.461A>G (p.Glu154Gly) rs758847241
NM_145239.3(PRRT2):c.647C>G (p.Pro216Arg) rs76335820
NM_152490.5(B3GALNT2):c.113-1376C>T rs1572560402
NM_152490.5(B3GALNT2):c.113-1439dup rs1572560624
NM_152564.5(VPS13B):c.9331-2_9331-1del rs764288792
NM_152564.5(VPS13B):c.9337_9338del (p.Arg3113fs) rs754443525
NM_172002.5(HSCB):c.-37C>T rs1269754581
NM_172107.4(KCNQ2):c.1997C>T (p.Pro666Leu) rs762130930
NM_174905.4(FAM98C):c.691CTC[2] (p.Leu233del) rs137896913
NM_177438.3(DICER1):c.*30C>A rs749282967
NM_177438.3(DICER1):c.*35C>A rs756294748
NM_178857.6(RP1L1):c.3956_3957insAAGAAGAGAG (p.Val1320fs) rs773894295
NM_178857.6(RP1L1):c.3970_3971insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG (p.Glu1323_Glu1324insGlyThrLysValIleGluGlyLeuGlnGluGluArgValGlnLeuGlu) rs369606728
NM_178857.6(RP1L1):c.4018_4019insGGACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGG (p.Glu1339_Glu1340insGlyThrLysThrGluGluGlyLeuGlnGluGluGlyValGlnLeuGlu) rs1585963477
NM_178857.6(RP1L1):c.4018_4019insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG (p.Glu1339_Glu1340insGlyThrLysValIleGluGlyLeuGlnGluGluArgValGlnLeuGlu) rs1585963467
NM_178857.6(RP1L1):c.4018_4019insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGG (p.Glu1339_Glu1340insGlyThrLysValIleGluGlyLeuGlnGluGluGlyValGlnLeuGlu) rs1585963475
NM_183357.3(ADCY5):c.3180T>G (p.Asp1060Glu) rs2108194433
NM_198576.4(AGRN):c.2457G>C (p.Gly819=) rs112039851
NM_198578.4(LRRK2):c.4883G>C (p.Arg1628Pro) rs33949390
NM_201253.3(CRB1):c.275_276insT (p.Arg92fs) rs1571848132
NM_201253.3(CRB1):c.287G>A (p.Cys96Tyr) rs1571848190
NM_201253.3(CRB1):c.289_294del (p.Lys97_Cys98del) rs1571848216
NM_207034.3(EDN3):c.565dup (p.Thr189fs) rs11570344

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