ClinVar Miner

List of variants reported as uncertain significance by Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden

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ClinVar version:
Total variants: 2225
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HGVS dbSNP gnomAD frequency
NM_014694.4(ADAMTSL2):c.2022C>T (p.Pro674=) rs534165083 0.12965
NM_152383.5(DIS3L2):c.265-15C>A rs114804860 0.01092
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro) rs33927012 0.00921
NM_032638.5(GATA2):c.481C>G (p.Pro161Ala) rs34799090 0.00854
NM_001083116.3(PRF1):c.755A>G (p.Asn252Ser) rs28933375 0.00756
NM_005631.5(SMO):c.808G>A (p.Val270Ile) rs111694017 0.00740
NM_003001.5(SDHC):c.*84G>C rs201210474 0.00703
NM_000368.5(TSC1):c.2626-3C>T rs1060503192 0.00608
NM_022725.4(FANCF):c.373G>A (p.Asp125Asn) rs61752920 0.00605
NM_002109.6(HARS1):c.14C>A (p.Ala5Glu) rs78741041 0.00588
NM_004168.4(SDHA):c.312+20C>T rs111533078 0.00586
NM_032444.4(SLX4):c.5501A>G (p.Asn1834Ser) rs111738042 0.00575
NM_015570.4(AUTS2):c.2784C>T (p.Ala928=) rs79439293 0.00558
NM_006236.3(POU3F3):c.549C>T (p.His183=) rs993106557 0.00531
NM_020988.3(GNAO1):c.724-4958G>A rs138224601 0.00501
NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser) rs1799802 0.00471
NM_001113378.2(FANCI):c.3103C>T (p.Leu1035=) rs34462132 0.00456
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_004656.4(BAP1):c.2057-4G>T rs149499021 0.00433
NM_000245.4(MET):c.504G>T (p.Glu168Asp) rs55985569 0.00420
NM_002439.5(MSH3):c.2254-19T>G rs41562717 0.00405
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp) rs61749249 0.00399
NM_004260.4(RECQL4):c.3314G>A (p.Gly1105Asp) rs36078464 0.00371
NM_002661.5(PLCG2):c.1444T>C (p.Tyr482His) rs187956469 0.00341
NM_001394062.1(MACF1):c.7194C>A (p.Ala2398=) rs141334491 0.00339
NM_000222.3(KIT):c.-14T>A rs140909964 0.00332
NM_000222.3(KIT):c.1383A>G (p.Thr461=) rs151016327 0.00324
NM_001005498.4(RHBDF2):c.1495G>T (p.Asp499Tyr) rs11553545 0.00322
NM_018062.4(FANCL):c.112C>T (p.Leu38Phe) rs55849827 0.00322
NM_000070.3(CAPN3):c.1746-20C>G rs201892814 0.00320
NM_001365951.3(KIF1B):c.2115+7031T>C rs149267056 0.00320
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) rs34094720 0.00316
NM_000057.4(BLM):c.2160C>T (p.Ile720=) rs28385028 0.00303
NM_004364.5(CEBPA):c.402G>A (p.Ala134=) rs752254340 0.00295
NM_001025389.2(AMPD3):c.1557+834G>A rs576595825 0.00294
NM_005732.4(RAD50):c.3879C>T (p.Ile1293=) rs28903094 0.00293
NM_006231.4(POLE):c.16G>C (p.Gly6Arg) rs202220778 0.00293
NM_005045.4(RELN):c.3651C>G (p.Ile1217Met) rs56342240 0.00287
NM_004260.4(RECQL4):c.1954G>A (p.Val652Met) rs61754061 0.00285
NM_001113378.2(FANCI):c.1573A>G (p.Met525Val) rs144908351 0.00282
NM_001005498.4(RHBDF2):c.1396C>T (p.Arg466Trp) rs143503813 0.00278
NM_000553.6(WRN):c.3785C>G (p.Thr1262Arg) rs78488552 0.00276
NM_003418.5(CNBP):c.61A>G (p.Thr21Ala) rs140065732 0.00275
NM_000107.3(DDB2):c.1228G>A (p.Ala410Thr) rs143049891 0.00270
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419 0.00264
NM_001194998.2(CEP152):c.2878T>C (p.Trp960Arg) rs201342438 0.00263
NM_005592.4(MUSK):c.1931T>C (p.Val644Ala) rs41279055 0.00255
NM_000260.4(MYO7A):c.3503+95C>G rs576982361 0.00252
NM_017763.6(RNF43):c.1010G>A (p.Arg337Gln) rs138844366 0.00248
NM_003072.5(SMARCA4):c.2275-3C>A rs117611401 0.00243
NM_005027.4(PIK3R2):c.160G>A (p.Val54Met) rs201370957 0.00242
NM_000553.6(WRN):c.1981+11A>G rs189999761 0.00240
NM_020361.5(CPA6):c.799G>A (p.Gly267Arg) rs61738009 0.00239
NM_207122.2(EXT2):c.710C>T (p.Ser237Leu) rs139525250 0.00236
NM_004168.4(SDHA):c.313-19G>T rs185555941 0.00235
NM_002439.5(MSH3):c.2732T>G (p.Leu911Trp) rs41545019 0.00233
NM_005045.4(RELN):c.7438G>A (p.Gly2480Ser) rs150236371 0.00231
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751 0.00230
NM_000465.4(BARD1):c.1977A>G (p.Arg659=) rs147215925 0.00230
NM_000077.5(CDKN2A):c.458-491C>T rs181044510 0.00229
NM_001364905.1(LRBA):c.1399A>G (p.Met467Val) rs116355217 0.00225
NM_006767.4(LZTR1):c.2187C>T (p.Tyr729=) rs117346988 0.00222
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319 0.00219
NM_000077.5(CDKN2A):c.150+37G>C rs45456595 0.00212
NM_005732.4(RAD50):c.980G>A (p.Arg327His) rs28903091 0.00207
NM_198253.3(TERT):c.3105C>T (p.Val1035=) rs181612536 0.00207
NM_002294.3(LAMP2):c.1093+3593C>T rs41310450 0.00206
NM_003977.4(AIP):c.47G>A (p.Arg16His) rs145047094 0.00197
NM_000553.6(WRN):c.2983G>A (p.Ala995Thr) rs140768346 0.00193
NM_005236.3(ERCC4):c.2117T>C (p.Ile706Thr) rs1800069 0.00190
NM_000051.4(ATM):c.1229T>C (p.Val410Ala) rs56128736 0.00186
NM_004771.4(MMP20):c.389C>T (p.Thr130Ile) rs61730849 0.00180
NM_004655.4(AXIN2):c.2272G>A (p.Ala758Thr) rs145007501 0.00179
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser) rs146077918 0.00172
NM_006231.4(POLE):c.4523G>A (p.Arg1508His) rs142508245 0.00170
NM_000553.6(WRN):c.1717A>G (p.Thr573Ala) rs150148567 0.00169
NM_177438.3(DICER1):c.20A>G (p.Gln7Arg) rs117358479 0.00165
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His) rs45629132 0.00164
NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val) rs193922855 0.00163
NM_020937.4(FANCM):c.171G>C (p.Leu57Phe) rs142007602 0.00161
NM_004972.4(JAK2):c.3178-12_3178-11insC rs533264615 0.00160
NM_004260.4(RECQL4):c.615C>G (p.Pro205=) rs35639991 0.00159
NM_000123.4(ERCC5):c.1789G>C (p.Val597Leu) rs4150319 0.00158
NM_002528.7(NTHL1):c.503T>C (p.Ile168Thr) rs1805378 0.00155
NM_006767.4(LZTR1):c.1530C>T (p.His510=) rs190714197 0.00155
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn) rs142155101 0.00153
NM_001064.4(TKT):c.1177T>C (p.Phe393Leu) rs138820989 0.00151
NM_001519.4(BRF1):c.696G>A (p.Ala232=) rs142328073 0.00151
NM_015271.5(TRIM2):c.*2749G>C rs148181277 0.00150
NM_000553.6(WRN):c.1149G>T (p.Leu383Phe) rs4987238 0.00148
NM_000875.5(IGF1R):c.1336A>G (p.Met446Val) rs117440569 0.00148
NM_003072.5(SMARCA4):c.4171-29G>C rs200002796 0.00148
NM_006940.6(SOX5):c.1772-13C>T rs192384649 0.00147
NM_020937.4(FANCM):c.1576C>G (p.Leu526Val) rs144215747 0.00147
NM_000122.2(ERCC3):c.847C>T (p.Arg283Cys) rs145201970 0.00146
NM_001983.4(ERCC1):c.-8+1G>C rs187222096 0.00146
NM_005732.4(RAD50):c.379G>A (p.Val127Ile) rs28903086 0.00146
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966 0.00145
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu) rs142551229 0.00140
NM_000368.5(TSC1):c.3103G>A (p.Gly1035Ser) rs118203742 0.00139
NM_001353345.2(SETD1B):c.3587T>A (p.Val1196Glu) rs188280904 0.00139
NM_016169.4(SUFU):c.910+14C>T rs202247757 0.00139
NM_004260.4(RECQL4):c.716C>T (p.Ala239Val) rs146709578 0.00129
NM_024642.5(GALNT12):c.907G>A (p.Asp303Asn) rs145236923 0.00129
NM_001519.4(BRF1):c.545-5490C>T rs143507406 0.00128
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg) rs140781259 0.00126
NM_005228.5(EGFR):c.889+18G>T rs41323746 0.00126
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu) rs149112292 0.00125
NM_000222.3(KIT):c.1588G>A (p.Val530Ile) rs72550822 0.00125
NM_032444.4(SLX4):c.2359G>A (p.Glu787Lys) rs140600202 0.00125
NM_006659.4(TUBGCP2):c.878C>T (p.Ala293Val) rs138230773 0.00124
NM_017950.4(CCDC40):c.3046G>A (p.Val1016Ile) rs117307093 0.00123
NM_006231.4(POLE):c.861T>A (p.Asp287Glu) rs139075637 0.00122
NM_001291303.3(FAT4):c.8021A>T (p.Asp2674Val) rs138655269 0.00121
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu) rs35993949 0.00121
NM_004260.4(RECQL4):c.3443C>T (p.Ser1148Phe) rs35346077 0.00119
NM_032444.4(SLX4):c.2305G>C (p.Glu769Gln) rs150712805 0.00119
NM_000553.6(WRN):c.4216C>T (p.Arg1406Ter) rs11574410 0.00118
NM_015631.6(TCTN3):c.946A>G (p.Thr316Ala) rs200042949 0.00118
NM_003184.4(TAF2):c.157A>G (p.Ile53Val) rs112002462 0.00117
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_000123.4(ERCC5):c.3356C>T (p.Ala1119Val) rs2227871 0.00116
NM_000057.4(BLM):c.3849G>A (p.Gln1283=) rs140524886 0.00115
NM_001005273.3(CHD3):c.3417G>T (p.Gly1139=) rs61753146 0.00115
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190 0.00115
NM_000123.4(ERCC5):c.2818G>A (p.Val940Met) rs146344855 0.00113
NM_002439.5(MSH3):c.2041C>T (p.Pro681Ser) rs115198722 0.00112
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His) rs143024324 0.00111
NM_144670.6(A2ML1):c.4061+1G>A rs202067416 0.00108
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser) rs1800110 0.00106
NM_000271.5(NPC1):c.3217G>A (p.Gly1073Ser) rs141440861 0.00105
NM_004448.4(ERBB2):c.3044G>A (p.Gly1015Glu) rs140272156 0.00104
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter) rs147021911 0.00104
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057 0.00102
NM_001040108.2(MLH3):c.3488G>A (p.Gly1163Asp) rs28757011 0.00100
NM_022437.3(ABCG8):c.712G>A (p.Glu238Lys) rs34754243 0.00100
NM_005236.3(ERCC4):c.1563C>G (p.Ser521Arg) rs41552412 0.00099
NM_001082486.2(ACD):c.613A>G (p.Thr205Ala) rs139438549 0.00098
NM_004628.5(XPC):c.1177C>T (p.Arg393Trp) rs121965090 0.00098
NM_016034.5(MRPS2):c.299+95G>C rs117542222 0.00098
NM_002382.5(MAX):c.172-6230G>A rs148339628 0.00097
NM_004168.4(SDHA):c.1396G>A (p.Ala466Thr) rs111387770 0.00097
NM_000051.4(ATM):c.6860G>C (p.Gly2287Ala) rs1800061 0.00096
NM_032634.4(PIGO):c.3163T>C (p.Phe1055Leu) rs147316771 0.00093
NM_001365951.3(KIF1B):c.3645G>A (p.Pro1215=) rs147318592 0.00092
NM_002281.4(KRT81):c.846T>A (p.Tyr282Ter) rs138597671 0.00092
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441 0.00091
NM_001365951.3(KIF1B):c.2115+6581G>A rs41274460 0.00089
NM_000198.4(HSD3B2):c.500C>T (p.Ala167Val) rs35486059 0.00087
NM_032444.4(SLX4):c.1372A>G (p.Lys458Glu) rs149126845 0.00087
NM_006206.6(PDGFRA):c.599C>G (p.Thr200Ser) rs149951350 0.00086
NM_020937.4(FANCM):c.1237T>C (p.Tyr413His) rs138225703 0.00086
NM_000122.2(ERCC3):c.2080G>A (p.Ala694Thr) rs151216904 0.00085
NM_004655.4(AXIN2):c.1985T>C (p.Leu662Pro) rs142476324 0.00084
NM_001083116.3(PRF1):c.1620A>G (p.Gln540=) rs149776121 0.00083
NM_020937.4(FANCM):c.3296G>A (p.Arg1099His) rs139382267 0.00083
NM_181523.3(PIK3R1):c.1426-20T>G rs201254436 0.00083
NM_004260.4(RECQL4):c.308C>T (p.Pro103Leu) rs199543866 0.00082
NM_005236.3(ERCC4):c.1727G>C (p.Arg576Thr) rs1800068 0.00082
NM_006231.4(POLE):c.139C>T (p.Arg47Trp) rs143626223 0.00082
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys) rs150792276 0.00081
NM_004329.3(BMPR1A):c.1327C>T (p.Arg443Cys) rs35619497 0.00081
NM_022370.4(ROBO3):c.3581T>C (p.Met1194Thr) rs201800537 0.00081
NM_025216.3(WNT10A):c.337C>T (p.Arg113Cys) rs141074983 0.00080
NM_002691.4(POLD1):c.2565-17G>A rs200576676 0.00078
NM_032444.4(SLX4):c.85C>T (p.Arg29Cys) rs144832924 0.00078
NM_000123.4(ERCC5):c.2534-10T>G rs199562917 0.00077
NM_001211.6(BUB1B):c.3094A>C (p.Asn1032His) rs34700927 0.00077
NM_001354604.2(MITF):c.1031+14C>T rs201353723 0.00077
NM_004260.4(RECQL4):c.3622C>T (p.Arg1208Cys) rs41555416 0.00076
NM_207122.2(EXT2):c.965G>A (p.Arg322His) rs149727518 0.00076
NM_015909.4(NBAS):c.3361-19A>G rs201607999 0.00075
NM_017763.6(RNF43):c.1825C>T (p.Arg609Trp) rs139405076 0.00075
NM_001083116.3(PRF1):c.1310C>T (p.Ala437Val) rs138126912 0.00073
NM_004793.4(LONP1):c.1876G>A (p.Val626Met) rs147307965 0.00073
NM_006231.4(POLE):c.3718G>A (p.Glu1240Lys) rs113594027 0.00073
NM_152383.5(DIS3L2):c.1447C>G (p.Arg483Gly) rs186865544 0.00073
NM_001001548.3(CD36):c.1156C>T (p.Arg386Trp) rs148910227 0.00072
NM_152383.5(DIS3L2):c.410A>G (p.Tyr137Cys) rs201733073 0.00072
NM_001113378.2(FANCI):c.824T>C (p.Ile275Thr) rs142906652 0.00071
NM_004260.4(RECQL4):c.1868G>A (p.Arg623His) rs201734382 0.00070
NM_004448.4(ERBB2):c.1466C>T (p.Pro489Leu) rs142456637 0.00069
NM_032444.4(SLX4):c.4261A>T (p.Ile1421Phe) rs141567438 0.00069
NM_000245.4(MET):c.1039G>A (p.Ala347Thr) rs200074800 0.00068
NM_000314.8(PTEN):c.804C>A (p.Asp268Glu) rs398123328 0.00068
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr) rs140601319 0.00068
NM_212482.4(FN1):c.5435-7T>C rs202045892 0.00068
NM_003072.5(SMARCA4):c.223-5C>T rs376775933 0.00066
NM_003977.4(AIP):c.896C>T (p.Ala299Val) rs148986773 0.00065
NM_005732.4(RAD50):c.671G>A (p.Arg224His) rs28903088 0.00065
NM_000123.4(ERCC5):c.3106G>A (p.Ala1036Thr) rs144208043 0.00064
NM_000179.3(MSH6):c.663A>C (p.Glu221Asp) rs41557217 0.00064
NM_006206.6(PDGFRA):c.1325T>C (p.Leu442Pro) rs139236922 0.00064
NM_020937.4(FANCM):c.2859A>C (p.Lys953Asn) rs142864437 0.00064
NM_000264.5(PTCH1):c.37C>G (p.Arg13Gly) rs779791579 0.00063
NM_001211.6(BUB1B):c.1001C>T (p.Pro334Leu) rs141953425 0.00063
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) rs145843073 0.00063
NM_002691.4(POLD1):c.455C>T (p.Ala152Val) rs41563714 0.00062
NM_000136.3(FANCC):c.1329+212C>T rs41281200 0.00061
NM_000543.5(SMPD1):c.340G>A (p.Val114Met) rs142215226 0.00061
NM_021922.3(FANCE):c.229C>A (p.Pro77Thr) rs587778335 0.00061
NM_198253.3(TERT):c.2131-16G>A rs146768484 0.00061
NM_201384.3(PLEC):c.9049C>T (p.Arg3017Trp) rs201041716 0.00061
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln) rs137853242 0.00060
NM_004168.4(SDHA):c.133G>A (p.Ala45Thr) rs140736646 0.00060
NM_000123.4(ERCC5):c.56C>T (p.Pro19Leu) rs34291397 0.00059
NM_000222.3(KIT):c.1195G>A (p.Val399Ile) rs143707288 0.00059
NM_000321.3(RB1):c.1966C>T (p.Arg656Trp) rs142509759 0.00059
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala) rs146176004 0.00059
NM_003235.5(TG):c.455G>A (p.Arg152His) rs114781869 0.00059
NM_000245.4(MET):c.406G>A (p.Val136Ile) rs199701987 0.00058
NM_004329.3(BMPR1A):c.1419T>G (p.Val473=) rs145756629 0.00058
NM_016239.4(MYO15A):c.7984C>G (p.Leu2662Val) rs200930743 0.00058
NM_024675.4(PALB2):c.2851T>C (p.Ser951Pro) rs149522412 0.00058
NM_144997.7(FLCN):c.871+47G>A rs142934950 0.00058
NM_000264.5(PTCH1):c.3487G>A (p.Gly1163Ser) rs113663584 0.00057
NM_000057.4(BLM):c.968A>G (p.Lys323Arg) rs146504061 0.00056
NM_000135.4(FANCA):c.3514-13G>A rs200270574 0.00056
NM_005236.3(ERCC4):c.16C>T (p.Pro6Ser) rs61760160 0.00056
NM_001379610.1(SPINK1):c.194G>A (p.Arg65Gln) rs141634296 0.00055
NM_004304.5(ALK):c.469C>T (p.Pro157Ser) rs74774946 0.00055
NM_024675.4(PALB2):c.2749-18C>T rs182194007 0.00055
NM_002291.3(LAMB1):c.3038G>A (p.Arg1013Gln) rs141390544 0.00054
NM_004260.4(RECQL4):c.1132-20C>T rs375444239 0.00053
NM_004260.4(RECQL4):c.3317G>A (p.Arg1106His) rs34236392 0.00053
NM_001005498.4(RHBDF2):c.853G>A (p.Ala285Thr) rs140433374 0.00052
NM_000136.3(FANCC):c.934A>G (p.Ile312Val) rs1800366 0.00051
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe) rs200078204 0.00051
NM_000543.5(SMPD1):c.1675G>A (p.Val559Ile) rs149939736 0.00051
NM_000551.4(VHL):c.463+8C>T rs5030834 0.00051
NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys) rs138089183 0.00051
NM_001379610.1(SPINK1):c.-22C>T rs190219062 0.00051
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927 0.00051
NM_022725.4(FANCF):c.385C>G (p.Leu129Val) rs61753271 0.00051
NM_004484.4(GPC3):c.660C>T (p.Ser220=) rs138450923 0.00050
NM_005359.6(SMAD4):c.880A>G (p.Met294Val) rs7238500 0.00050
NM_033004.4(NLRP1):c.4313G>A (p.Arg1438Gln) rs201167590 0.00050
NM_001242896.3(DEPDC5):c.1525C>T (p.Arg509Cys) rs202083639 0.00049
NM_006767.4(LZTR1):c.652-10C>A rs200169897 0.00049
NM_020937.4(FANCM):c.5569G>A (p.Val1857Met) rs144008013 0.00049
NM_032444.4(SLX4):c.2975G>A (p.Gly992Glu) rs139287784 0.00049
NM_145207.3(AFG2A):c.1159C>T (p.Pro387Ser) rs201751275 0.00049
NM_000038.6(APC):c.295C>T (p.Arg99Trp) rs139196838 0.00048
NM_000135.4(FANCA):c.3427C>G (p.Leu1143Val) rs61753269 0.00048
NM_001005498.4(RHBDF2):c.1486A>G (p.Lys496Glu) rs150723002 0.00048
NM_014679.5(CEP57):c.572T>A (p.Leu191His) rs150399616 0.00048
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp) rs143671872 0.00047
NM_002485.5(NBN):c.628G>T (p.Val210Phe) rs61754796 0.00047
NM_006231.4(POLE):c.5659G>A (p.Val1887Met) rs114119067 0.00047
NM_020975.6(RET):c.3112A>G (p.Thr1038Ala) rs201740483 0.00047
NM_023110.3(FGFR1):c.1368G>T (p.Met456Ile) rs200776757 0.00047
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) rs140856217 0.00046
NM_004304.5(ALK):c.4255G>A (p.Glu1419Lys) rs56181542 0.00046
NM_004562.3(PRKN):c.766C>T (p.Arg256Cys) rs150562946 0.00046
NM_024642.5(GALNT12):c.889C>T (p.Arg297Trp) rs149726976 0.00046
NM_000222.3(KIT):c.200C>G (p.Thr67Ser) rs144933028 0.00045
NM_001048174.2(MUTYH):c.914-9C>T rs3219488 0.00045
NM_001270508.2(TNFAIP3):c.2364G>A (p.Met788Ile) rs143002189 0.00045
NM_001983.4(ERCC1):c.793G>A (p.Ala265Thr) rs144868115 0.00045
NM_022725.4(FANCF):c.633G>T (p.Gln211His) rs146975768 0.00045
NM_002485.5(NBN):c.1720T>A (p.Leu574Ile) rs142334798 0.00044
NM_004260.4(RECQL4):c.3143A>G (p.Lys1048Arg) rs202203322 0.00044
NM_000264.5(PTCH1):c.4324C>T (p.Arg1442Trp) rs143464326 0.00043
NM_001083116.3(PRF1):c.82C>T (p.Arg28Cys) rs141660796 0.00043
NM_177438.3(DICER1):c.438+11T>C rs376038413 0.00043
NM_023110.3(FGFR1):c.899T>C (p.Ile300Thr) rs121909633 0.00042
NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met) rs144079536 0.00041
NM_001242896.3(DEPDC5):c.3092C>A (p.Pro1031His) rs376744360 0.00041
NM_001354604.2(MITF):c.881-7T>A rs200580325 0.00041
NM_002691.4(POLD1):c.3068-14C>T rs3218758 0.00041
NM_015474.4(SAMHD1):c.1593G>C (p.Arg531Ser) rs145735112 0.00041
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His) rs45589637 0.00041
NM_001365951.3(KIF1B):c.2618C>T (p.Thr873Ile) rs121908162 0.00040
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) rs104893829 0.00039
NM_020975.6(RET):c.1946C>T (p.Ser649Leu) rs148935214 0.00039
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg) rs55801750 0.00038
NM_001113378.2(FANCI):c.3896G>T (p.Arg1299Leu) rs138663330 0.00038
NM_001375462.1(LPP):c.464C>T (p.Ser155Leu) rs150267429 0.00038
NM_001942.4(DSG1):c.3133G>A (p.Val1045Met) rs140838956 0.00038
NM_033109.5(PNPT1):c.1676C>G (p.Ala559Gly) rs149843729 0.00038
NM_002878.4(RAD51D):c.26G>C (p.Cys9Ser) rs140825795 0.00037
NM_003977.4(AIP):c.26G>A (p.Arg9Gln) rs139459091 0.00037
NM_000264.5(PTCH1):c.4325G>A (p.Arg1442Gln) rs56023271 0.00036
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_000393.5(COL5A2):c.4067A>G (p.Asp1356Gly) rs140952583 0.00036
NM_022455.5(NSD1):c.3215G>A (p.Arg1072Gln) rs28932180 0.00036
NM_032444.4(SLX4):c.2681T>G (p.Val894Gly) rs145137472 0.00036
NM_000222.3(KIT):c.821C>T (p.Thr274Met) rs138585275 0.00035
NM_000400.4(ERCC2):c.1267G>A (p.Asp423Asn) rs143710107 0.00034
NM_001040108.2(MLH3):c.1637G>T (p.Arg546Ile) rs55725216 0.00034
NM_003722.5(TP63):c.1350-5670A>G rs569688589 0.00034
NM_003839.4(TNFRSF11A):c.1703G>A (p.Arg568His) rs375618864 0.00034
NM_004134.7(HSPA9):c.1426G>A (p.Ala476Thr) rs145860531 0.00034
NM_005228.5(EGFR):c.3629C>T (p.Ala1210Val) rs35918369 0.00034
NM_006206.6(PDGFRA):c.1285G>A (p.Gly429Arg) rs150577828 0.00034
NM_006767.4(LZTR1):c.2190C>T (p.Gly730=) rs144092577 0.00034
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883 0.00034
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer) rs747253294 0.00034
NM_024426.6(WT1):c.662-6C>A rs372418954 0.00034
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys) rs2229022 0.00032
NM_000123.4(ERCC5):c.1802A>G (p.Glu601Gly) rs60682853 0.00032
NM_006231.4(POLE):c.3971G>A (p.Arg1324His) rs143981093 0.00032
NM_020937.4(FANCM):c.269C>T (p.Pro90Leu) rs142904668 0.00032
NM_021922.3(FANCE):c.1018G>C (p.Gly340Arg) rs45524646 0.00032
NM_000135.4(FANCA):c.480G>A (p.Met160Ile) rs200603300 0.00031
NM_000251.3(MSH2):c.435T>G (p.Ile145Met) rs63750124 0.00031
NM_001077350.3(NPRL3):c.1268C>T (p.Pro423Leu) rs200792895 0.00031
NM_004260.4(RECQL4):c.2967G>A (p.Met989Ile) rs200018416 0.00031
NM_004628.5(XPC):c.2404G>A (p.Gly802Ser) rs200148127 0.00031
NM_004629.2(FANCG):c.794C>T (p.Ala265Val) rs764992007 0.00031
NM_020066.5(FMN2):c.2834C>T (p.Pro945Leu) rs193049501 0.00031
NM_022124.6(CDH23):c.10021C>T (p.Arg3341Cys) rs370074117 0.00031
NM_032444.4(SLX4):c.3368C>A (p.Ser1123Tyr) rs144647122 0.00031
NM_207122.2(EXT2):c.260T>G (p.Met87Arg) rs140075817 0.00031
NM_000019.4(ACAT1):c.1217A>G (p.Glu406Gly) rs147872303 0.00030
NM_021930.6(RINT1):c.766C>G (p.Arg256Gly) rs144994876 0.00030
NM_178857.6(RP1L1):c.609+2T>C rs199958805 0.00030
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His) rs201666889 0.00029
NM_000075.4(CDK4):c.625C>T (p.Arg209Cys) rs140644696 0.00029
NM_000268.4(NF2):c.1340+8G>T rs370604189 0.00029
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152 0.00029
NM_000548.5(TSC2):c.5116C>T (p.Arg1706Cys) rs45517391 0.00029
NM_001018115.3(FANCD2):c.2803A>C (p.Ile935Leu) rs61751578 0.00029
NM_001083116.3(PRF1):c.1000G>A (p.Gly334Ser) rs145463632 0.00029
NM_001164508.2(NEB):c.20098C>A (p.Leu6700Ile) rs202139330 0.00029
NM_002354.3(EPCAM):c.577A>G (p.Ile193Val) rs200676965 0.00029
NM_004448.4(ERBB2):c.1738-5C>G rs749633839 0.00029
NM_080916.3(DGUOK):c.199G>A (p.Val67Ile) rs62641679 0.00029
NM_144997.7(FLCN):c.268G>T (p.Ala90Ser) rs141140415 0.00029
NM_000038.6(APC):c.2593C>T (p.Pro865Ser) rs192620988 0.00028
NM_000179.3(MSH6):c.3217C>T (p.Pro1073Ser) rs142254875 0.00028
NM_000222.3(KIT):c.1594G>A (p.Val532Ile) rs55792975 0.00028
NM_001365951.3(KIF1B):c.2115+6313G>A rs374263753 0.00028
NM_022455.5(NSD1):c.2696T>C (p.Ile899Thr) rs142703625 0.00028
NM_000123.4(ERCC5):c.2800G>A (p.Glu934Lys) rs201274165 0.00027
NM_000179.3(MSH6):c.-18G>T rs199913053 0.00027
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser) rs104895032 0.00027
NM_020937.4(FANCM):c.4366C>T (p.Arg1456Cys) rs200360968 0.00027
NM_000051.4(ATM):c.4362A>C (p.Lys1454Asn) rs148993589 0.00026
NM_000057.4(BLM):c.191A>T (p.Asp64Val) rs140382474 0.00026
NM_000553.6(WRN):c.1530A>T (p.Glu510Asp) rs149565907 0.00026
NM_000553.6(WRN):c.2986G>A (p.Asp996Asn) rs138379977 0.00026
NM_001025389.2(AMPD3):c.-157T>C rs764413936 0.00026
NM_001048174.2(MUTYH):c.-6-14T>A rs587781284 0.00026
NM_001365951.3(KIF1B):c.2115+6835C>T rs140733878 0.00026
NM_002108.4(HAL):c.25C>T (p.Arg9Cys) rs201646460 0.00026
NM_005228.5(EGFR):c.2543C>T (p.Pro848Leu) rs148934350 0.00026
NM_005732.4(RAD50):c.1094G>A (p.Arg365Gln) rs146370443 0.00026
NM_005732.4(RAD50):c.2288G>A (p.Arg763His) rs141989813 0.00026
NM_020937.4(FANCM):c.163G>A (p.Asp55Asn) rs148017562 0.00026
NM_021930.6(RINT1):c.782C>T (p.Pro261Leu) rs199535472 0.00026
NM_022168.4(IFIH1):c.2962G>T (p.Val988Leu) rs74162090 0.00026
NM_030662.4(MAP2K2):c.678C>T (p.Ser226=) rs200874968 0.00026
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp) rs150624408 0.00026
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr) rs150757822 0.00025
NM_000264.5(PTCH1):c.4033C>T (p.Arg1345Cys) rs556901417 0.00025
NM_001130144.3(LTBP3):c.3859G>A (p.Gly1287Ser) rs536370608 0.00025
NM_177438.3(DICER1):c.1124C>G (p.Pro375Arg) rs148758903 0.00025
NM_000245.4(MET):c.967A>G (p.Ser323Gly) rs201467281 0.00024
NM_000376.3(VDR):c.146+9dup rs748166237 0.00024
NM_001042681.2(RERE):c.1964C>T (p.Ala655Val) rs149900041 0.00024
NM_003562.5(SLC25A11):c.828C>A (p.Phe276Leu) rs147584261 0.00024
NM_006231.4(POLE):c.2683G>A (p.Ala895Thr) rs201115064 0.00024
NM_007327.4(GRIN1):c.2444-14G>A rs191352124 0.00024
NM_022725.4(FANCF):c.573C>G (p.Ser191Arg) rs146219377 0.00024
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098 0.00024
NM_032444.4(SLX4):c.4590G>A (p.Met1530Ile) rs147315419 0.00024
NM_144997.7(FLCN):c.715C>T (p.Arg239Cys) rs78683075 0.00024
NM_001001548.3(CD36):c.649G>A (p.Gly217Arg) rs200067322 0.00023
NM_006231.4(POLE):c.5379-19C>T rs376722984 0.00023
NM_020975.6(RET):c.874G>A (p.Val292Met) rs34682185 0.00023
NM_000038.6(APC):c.7036C>T (p.Pro2346Ser) rs200756935 0.00022
NM_000123.4(ERCC5):c.3554A>C (p.Lys1185Thr) rs201911663 0.00022
NM_000135.4(FANCA):c.3801C>T (p.Gly1267=) rs143772894 0.00022
NM_000245.4(MET):c.1076G>A (p.Arg359Gln) rs201274041 0.00022
NM_001110219.3(GJB6):c.680C>T (p.Thr227Met) rs199790650 0.00022
NM_001365951.3(KIF1B):c.4211T>C (p.Val1404Ala) rs200561798 0.00022
NM_001754.5(RUNX1):c.98-21T>C rs371813424 0.00022
NM_002439.5(MSH3):c.2438A>G (p.Lys813Arg) rs150446804 0.00022
NM_006031.6(PCNT):c.5726C>T (p.Pro1909Leu) rs781468861 0.00022
NM_015570.4(AUTS2):c.3776G>A (p.Arg1259Gln) rs148604002 0.00022
NM_022725.4(FANCF):c.647G>C (p.Arg216Pro) rs192534185 0.00022
NM_000264.5(PTCH1):c.3919C>T (p.Pro1307Ser) rs574880967 0.00021
NM_002861.5(PCYT2):c.313T>C (p.Tyr105His) rs35473202 0.00021
NM_005045.4(RELN):c.1231C>A (p.Leu411Ile) rs144978163 0.00021
NM_005921.2(MAP3K1):c.3857A>T (p.Glu1286Val) rs371578161 0.00021
NM_017763.6(RNF43):c.1114C>T (p.Pro372Ser) rs201204271 0.00021
NM_020822.3(KCNT1):c.1928G>A (p.Arg643Gln) rs141281093 0.00021
NM_022124.6(CDH23):c.2711C>T (p.Pro904Leu) rs199894395 0.00021
NM_003072.5(SMARCA4):c.2275-10G>A rs375787249 0.00020
NM_006147.4(IRF6):c.1060G>A (p.Asp354Asn) rs200808685 0.00020
NM_016169.4(SUFU):c.1445C>T (p.Pro482Leu) rs765358771 0.00020
NM_020937.4(FANCM):c.4627C>T (p.Leu1543Phe) rs139536545 0.00020
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg) rs56399857 0.00019
NM_000051.4(ATM):c.8734A>G (p.Arg2912Gly) rs376676328 0.00019
NM_000123.4(ERCC5):c.554C>T (p.Ala185Val) rs151061520 0.00019
NM_000135.4(FANCA):c.3551G>C (p.Arg1184Pro) rs147672303 0.00019
NM_000136.3(FANCC):c.29G>A (p.Cys10Tyr) rs143152201 0.00019
NM_000179.3(MSH6):c.3961A>G (p.Arg1321Gly) rs41295278 0.00019
NM_000268.4(NF2):c.1639G>A (p.Glu547Lys) rs199669486 0.00019
NM_001081.4(CUBN):c.6479A>G (p.Asp2160Gly) rs144704318 0.00019
NM_001220.5(CAMK2B):c.1466C>T (p.Pro489Leu) rs555460132 0.00019
NM_001354604.2(MITF):c.394C>A (p.Gln132Lys) rs201297175 0.00019
NM_001849.4(COL6A2):c.2623G>A (p.Ala875Thr) rs199606147 0.00019
NM_003072.5(SMARCA4):c.1076G>A (p.Arg359Gln) rs148530368 0.00019
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) rs139366548 0.00019
NM_024426.6(WT1):c.193G>A (p.Gly65Arg) rs374404615 0.00019
NM_032444.4(SLX4):c.1829A>G (p.Gln610Arg) rs544935776 0.00019
NM_144997.7(FLCN):c.592G>A (p.Asp198Asn) rs200168437 0.00019
NM_000545.8(HNF1A):c.1309+102A>T rs113111047 0.00018
NM_000546.6(TP53):c.935C>G (p.Thr312Ser) rs145151284 0.00018
NM_001005498.4(RHBDF2):c.1531G>A (p.Gly511Ser) rs140196536 0.00018
NM_001113378.2(FANCI):c.3721G>A (p.Ala1241Thr) rs140357734 0.00018
NM_002691.4(POLD1):c.2017G>A (p.Glu673Lys) rs61751955 0.00018
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys) rs138398778 0.00017
NM_000380.4(XPA):c.683G>A (p.Arg228Gln) rs1805160 0.00017
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met) rs587780046 0.00017
NM_000553.6(WRN):c.2131C>T (p.Arg711Trp) rs34560788 0.00017
NM_000553.6(WRN):c.446G>A (p.Arg149His) rs61761625 0.00017
NM_001276277.3(PPIP5K2):c.2510G>A (p.Arg837His) rs548137246 0.00017
NM_002163.4(IRF8):c.1104G>A (p.Gln368=) rs377181003 0.00017
NM_000107.3(DDB2):c.59G>A (p.Arg20Lys) rs373622283 0.00016
NM_000337.6(SGCD):c.92G>A (p.Arg31Gln) rs200476861 0.00016
NM_000400.4(ERCC2):c.601C>T (p.His201Tyr) rs1799792 0.00016
NM_000548.5(TSC2):c.1244C>T (p.Ala415Val) rs374936223 0.00016
NM_001384474.1(LOXHD1):c.868G>A (p.Gly290Arg) rs564030670 0.00016
NM_004168.4(SDHA):c.955A>C (p.Ile319Leu) rs377509915 0.00016
NM_006015.6(ARID1A):c.2718C>G (p.Asn906Lys) rs201864573 0.00016
NM_007272.3(CTRC):c.27G>A (p.Ala9=) rs374821228 0.00016
NM_021930.6(RINT1):c.41C>T (p.Pro14Leu) rs201898612 0.00016
NM_000051.4(ATM):c.8156G>A (p.Arg2719His) rs55982963 0.00015
NM_000057.4(BLM):c.274A>G (p.Asn92Asp) rs200690226 0.00015
NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn) rs45509392 0.00015
NM_001081.4(CUBN):c.427A>C (p.Asn143His) rs151018922 0.00015
NM_002661.5(PLCG2):c.1695G>C (p.Glu565Asp) rs375590398 0.00015
NM_005591.4(MRE11):c.1504C>T (p.Arg502Cys) rs186333183 0.00015
NM_005732.4(RAD50):c.1277A>G (p.Gln426Arg) rs145428112 0.00015
NM_006031.6(PCNT):c.934C>T (p.Arg312Trp) rs572076735 0.00015
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342 0.00015
NM_020937.4(FANCM):c.3992C>T (p.Pro1331Leu) rs149348098 0.00015
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu) rs61748083 0.00014
NM_000368.5(TSC1):c.532G>A (p.Val178Ile) rs118203395 0.00014
NM_000548.5(TSC2):c.5185C>T (p.Arg1729Cys) rs45517409 0.00014
NM_001018115.3(FANCD2):c.1933G>T (p.Asp645Tyr) rs146496253 0.00014
NM_001330360.2(POLA1):c.3090+6A>G rs370956790 0.00014
NM_001365951.3(KIF1B):c.4516G>A (p.Glu1506Lys) rs754226097 0.00014
NM_001370259.2(MEN1):c.1351-4C>T rs764408631 0.00014
NM_003611.3(OFD1):c.412+965C>T rs778598253 0.00014
NM_003978.5(PSTPIP1):c.1123C>G (p.Pro375Ala) rs781781950 0.00014
NM_004260.4(RECQL4):c.2236G>A (p.Ala746Thr) rs758736784 0.00014
NM_004484.4(GPC3):c.172C>T (p.Pro58Ser) rs147231796 0.00014
NM_006206.6(PDGFRA):c.1135T>G (p.Leu379Val) rs199827643 0.00014
NM_016169.4(SUFU):c.1058C>T (p.Thr353Met) rs137880855 0.00014
NM_016169.4(SUFU):c.839G>A (p.Arg280Gln) rs145704867 0.00014
NM_032444.4(SLX4):c.832C>T (p.Arg278Trp) rs141597706 0.00014
NM_032977.4(CASP10):c.1297G>A (p.Glu433Lys) rs200540853 0.00014
NM_058216.3(RAD51C):c.784T>G (p.Leu262Val) rs149331537 0.00014
NM_000057.4(BLM):c.3044C>T (p.Thr1015Ile) rs202196488 0.00013
NM_000075.4(CDK4):c.122A>G (p.Asn41Ser) rs144890720 0.00013
NM_000135.4(FANCA):c.3637C>G (p.Pro1213Ala) rs200713354 0.00013
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys) rs63750649 0.00013
NM_000548.5(TSC2):c.3140T>C (p.Val1047Ala) rs45517284 0.00013
NM_001042424.3(NSD2):c.2414T>C (p.Val805Ala) rs144335923 0.00013
NM_001369369.1(FOXN1):c.1618G>A (p.Asp540Asn) rs181483148 0.00013
NM_002439.5(MSH3):c.562C>T (p.Arg188Cys) rs147289289 0.00013
NM_004260.4(RECQL4):c.2420G>A (p.Arg807His) rs571684398 0.00013
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
NM_005236.3(ERCC4):c.973+11A>T rs185779788 0.00013
NM_005431.2(XRCC2):c.620A>G (p.Glu207Gly) rs61762969 0.00013
NM_021120.4(DLG3):c.811C>T (p.Arg271Cys) rs199927598 0.00013
NM_021930.6(RINT1):c.767G>A (p.Arg256Gln) rs199512216 0.00013
NM_024675.4(PALB2):c.232G>A (p.Val78Ile) rs515726085 0.00013
NM_177438.3(DICER1):c.4616C>T (p.Thr1539Met) rs747901058 0.00013
NM_000057.4(BLM):c.2333C>G (p.Ser778Cys) rs139610577 0.00012
NM_000245.4(MET):c.3798+5T>C rs368150874 0.00012
NM_000264.5(PTCH1):c.3376G>A (p.Val1126Ile) rs147025073 0.00012
NM_000388.4(CASR):c.2777A>G (p.Gln926Arg) rs200263975 0.00012
NM_000548.5(TSC2):c.4094C>T (p.Ser1365Leu) rs377123510 0.00012
NM_001384125.1(BLTP1):c.13258_13260dup (p.Met4420dup) rs759468278 0.00012
NM_003000.3(SDHB):c.455C>T (p.Ser152Phe) rs200414835 0.00012
NM_006231.4(POLE):c.5812-11_5812-10del rs745976640 0.00012
NM_032444.4(SLX4):c.2620G>A (p.Gly874Ser) rs113420526 0.00012
NM_032444.4(SLX4):c.398C>T (p.Pro133Leu) rs373586019 0.00012
NM_206965.2(FTCD):c.593G>A (p.Arg198His) rs142358848 0.00012
NM_000038.6(APC):c.3875C>T (p.Thr1292Met) rs371113837 0.00011
NM_000122.2(ERCC3):c.2087T>G (p.Met696Arg) rs201806429 0.00011
NM_000352.6(ABCC8):c.1562G>A (p.Arg521Gln) rs368114790 0.00011
NM_000400.4(ERCC2):c.2195A>G (p.Asp732Gly) rs201828535 0.00011
NM_000535.7(PMS2):c.1559C>T (p.Ala520Val) rs63751300 0.00011
NM_001005498.4(RHBDF2):c.361C>T (p.Arg121Cys) rs187556554 0.00011
NM_001211.6(BUB1B):c.1261C>T (p.Arg421Trp) rs201251790 0.00011
NM_002354.3(EPCAM):c.425+19A>G rs199550543 0.00011
NM_004260.4(RECQL4):c.2143C>T (p.Arg715Trp) rs373292946 0.00011
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly) rs121964872 0.00011
NM_004562.3(PRKN):c.1372A>C (p.Met458Leu) rs182893847 0.00011
NM_004628.5(XPC):c.1133G>A (p.Arg378Lys) rs533121927 0.00011
NM_004656.4(BAP1):c.1946G>A (p.Cys649Tyr) rs151308667 0.00011
NM_014694.4(ADAMTSL2):c.*4C>T rs906095479 0.00011
NM_020937.4(FANCM):c.53G>A (p.Arg18Gln) rs146609069 0.00011
NM_024675.4(PALB2):c.1250C>A (p.Ser417Tyr) rs45510998 0.00011
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu) rs28997573 0.00011
NM_032638.5(GATA2):c.30G>T (p.Trp10Cys) rs367785289 0.00011
NM_000038.6(APC):c.388A>G (p.Ser130Gly) rs150973053 0.00010
NM_000123.4(ERCC5):c.1522G>T (p.Val508Phe) rs200503959 0.00010
NM_000123.4(ERCC5):c.2971C>T (p.Leu991Phe) rs755431359 0.00010
NM_000179.3(MSH6):c.1729C>T (p.Arg577Cys) rs542838372 0.00010
NM_000179.3(MSH6):c.3245C>T (p.Pro1082Leu) rs191109849 0.00010
NM_000388.4(CASR):c.740C>T (p.Ser247Phe) rs200382161 0.00010
NM_001006658.3(CR2):c.920C>T (p.Pro307Leu) rs138199106 0.00010
NM_001040108.2(MLH3):c.2638C>G (p.Leu880Val) rs201453923 0.00010
NM_001048174.2(MUTYH):c.640G>T (p.Val214Leu) rs769766446 0.00010
NM_001113378.2(FANCI):c.712A>G (p.Ser238Gly) rs112932178 0.00010
NM_002016.2(FLG):c.3059C>G (p.Ser1020Ter) rs200360684 0.00010
NM_004562.3(PRKN):c.247A>G (p.Thr83Ala) rs141825163 0.00010
NM_004629.2(FANCG):c.722C>T (p.Pro241Leu) rs201438531 0.00010
NM_006231.4(POLE):c.2773T>C (p.Ser925Pro) rs141552148 0.00010
NM_006231.4(POLE):c.6531+6G>T rs774747998 0.00010
NM_007103.4(NDUFV1):c.800G>A (p.Arg267Lys) rs141400889 0.00010
NM_017837.4(PIGV):c.428A>G (p.His143Arg) rs371892825 0.00010
NM_021930.6(RINT1):c.1317G>C (p.Leu439Phe) rs150180546 0.00010
NM_058216.3(RAD51C):c.431T>C (p.Ile144Thr) rs28363307 0.00010
NM_000038.6(APC):c.95A>G (p.Asn32Ser) rs539108537 0.00009
NM_000051.4(ATM):c.670A>G (p.Lys224Glu) rs145053092 0.00009
NM_000179.3(MSH6):c.1063G>A (p.Gly355Ser) rs587778531 0.00009
NM_000179.3(MSH6):c.1730G>A (p.Arg577His) rs376220212 0.00009
NM_000245.4(MET):c.3236A>G (p.His1079Arg) rs758292223 0.00009
NM_000264.5(PTCH1):c.3816C>T (p.Pro1272=) rs369295226 0.00009
NM_000268.4(NF2):c.1540A>G (p.Met514Val) rs201527155 0.00009
NM_000465.4(BARD1):c.1694G>A (p.Arg565His) rs146946984 0.00009
NM_000545.8(HNF1A):c.142G>A (p.Glu48Lys) rs772222326 0.00009
NM_000548.5(TSC2):c.5142G>A (p.Gln1714=) rs147147042 0.00009
NM_001018115.3(FANCD2):c.28T>C (p.Ser10Pro) rs150075366 0.00009
NM_001048174.2(MUTYH):c.583A>G (p.Ile195Val) rs200872702 0.00009
NM_001278512.2(AP3B2):c.1471C>A (p.Leu491Ile) rs751755116 0.00009
NM_001354930.2(RIPK1):c.1955C>T (p.Ala652Val) rs115355023 0.00009
NM_001365951.3(KIF1B):c.899A>G (p.Lys300Arg) rs373698346 0.00009
NM_001440.4(EXTL3):c.871G>A (p.Val291Ile) rs762247666 0.00009
NM_001754.5(RUNX1):c.668A>G (p.Glu223Gly) rs780999703 0.00009
NM_002972.4(SBF1):c.1399G>A (p.Val467Ile) rs192339446 0.00009
NM_004064.5(CDKN1B):c.54C>T (p.Ala18=) rs151027466 0.00009
NM_004260.4(RECQL4):c.2425G>A (p.Gly809Arg) rs769977498 0.00009
NM_004260.4(RECQL4):c.2492A>G (p.His831Arg) rs754324912 0.00009
NM_005236.3(ERCC4):c.1201C>T (p.Leu401Phe) rs147458778 0.00009
NM_005236.3(ERCC4):c.1619C>T (p.Ser540Leu) rs368830992 0.00009
NM_005236.3(ERCC4):c.703G>A (p.Ala235Thr) rs141101671 0.00009
NM_005591.4(MRE11):c.2070+14A>C rs369127675 0.00009
NM_007194.4(CHEK2):c.556A>C (p.Asn186His) rs146198085 0.00009
NM_020754.4(ARHGAP31):c.598G>A (p.Val200Ile) rs774626312 0.00009
NM_020937.4(FANCM):c.547A>C (p.Ser183Arg) rs368937236 0.00009
NM_020975.6(RET):c.2657G>A (p.Arg886Gln) rs373594744 0.00009
NM_020975.6(RET):c.961G>A (p.Gly321Arg) rs377767388 0.00009
NM_021922.3(FANCE):c.52C>T (p.Pro18Ser) rs552241929 0.00009
NM_024675.4(PALB2):c.1544A>G (p.Lys515Arg) rs515726072 0.00009
NM_024675.4(PALB2):c.3251C>T (p.Ser1084Leu) rs62625271 0.00009
NM_024675.4(PALB2):c.3508C>T (p.His1170Tyr) rs200283306 0.00009
NM_177438.3(DICER1):c.5527+7T>A rs375239471 0.00009
NM_000059.4(BRCA2):c.5635G>A (p.Glu1879Lys) rs55996097 0.00008
NM_000135.4(FANCA):c.3644C>A (p.Ala1215Asp) rs199601218 0.00008
NM_000179.3(MSH6):c.1474A>G (p.Met492Val) rs61754783 0.00008
NM_000222.3(KIT):c.2867G>A (p.Arg956Gln) rs139694927 0.00008
NM_000251.3(MSH2):c.4G>A (p.Ala2Thr) rs63750466 0.00008
NM_000264.5(PTCH1):c.3955C>T (p.Arg1319Cys) rs375998275 0.00008
NM_000264.5(PTCH1):c.4302C>T (p.Asp1434=) rs201357130 0.00008
NM_000380.4(XPA):c.731A>G (p.His244Arg) rs144725456 0.00008
NM_000400.4(ERCC2):c.428G>A (p.Arg143Gln) rs150000483 0.00008
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp) rs199739859 0.00008
NM_001018113.3(FANCB):c.127T>A (p.Leu43Ile) rs771007866 0.00008
NM_001042492.3(NF1):c.8377+1659C>T rs572658615 0.00008
NM_001048174.2(MUTYH):c.1504G>T (p.Asp502Tyr) rs147923905 0.00008
NM_001082486.2(ACD):c.962C>T (p.Ser321Leu) rs374925782 0.00008
NM_001370259.2(MEN1):c.1185+12G>A rs373609932 0.00008
NM_001379500.1(COL18A1):c.107-11679G>A rs557050550 0.00008
NM_004035.7(ACOX1):c.788G>C (p.Gly263Ala) rs377216317 0.00008
NM_004260.4(RECQL4):c.1151G>A (p.Arg384Gln) rs376045624 0.00008
NM_004260.4(RECQL4):c.2226G>T (p.Glu742Asp) rs200002105 0.00008
NM_005027.4(PIK3R2):c.1217G>A (p.Arg406His) rs201531496 0.00008
NM_032444.4(SLX4):c.1115G>A (p.Arg372Gln) rs372956623 0.00008
NM_033087.4(ALG2):c.389G>A (p.Arg130Gln) rs143625172 0.00008
NM_000051.4(ATM):c.2021A>G (p.His674Arg) rs201762714 0.00007
NM_000051.4(ATM):c.902G>A (p.Gly301Asp) rs202208861 0.00007
NM_000081.4(LYST):c.476G>A (p.Arg159Lys) rs111806240 0.00007
NM_000122.2(ERCC3):c.529G>A (p.Val177Ile) rs139690693 0.00007
NM_000179.3(MSH6):c.1054G>A (p.Val352Ile) rs730881787 0.00007
NM_000218.3(KCNQ1):c.136G>A (p.Ala46Thr) rs199473671 0.00007
NM_000222.3(KIT):c.297C>T (p.Asn99=) rs768599276 0.00007
NM_000245.4(MET):c.1862C>T (p.Thr621Ile) rs375951814 0.00007
NM_000264.5(PTCH1):c.2216A>T (p.His739Leu) rs202033167 0.00007
NM_000400.4(ERCC2):c.5+6A>G rs751637822 0.00007
NM_000400.4(ERCC2):c.946C>G (p.Gln316Glu) rs757790912 0.00007
NM_001018115.3(FANCD2):c.1757C>T (p.Ala586Val) rs377490218 0.00007
NM_001065.4(TNFRSF1A):c.334G>A (p.Val112Met) rs201753543 0.00007
NM_001113378.2(FANCI):c.1412C>G (p.Pro471Arg) rs139072231 0.00007
NM_001933.5(DLST):c.-6G>A rs374911682 0.00007
NM_002382.5(MAX):c.25G>T (p.Val9Leu) rs201743423 0.00007
NM_002691.4(POLD1):c.713C>T (p.Thr238Met) rs553342844 0.00007
NM_004260.4(RECQL4):c.2252G>A (p.Arg751Gln) rs559066300 0.00007
NM_004304.5(ALK):c.2623G>A (p.Gly875Arg) rs148001139 0.00007
NM_005228.5(EGFR):c.2518G>A (p.Ala840Thr) rs143884981 0.00007
NM_005676.5(RBM10):c.-53G>A rs781795179 0.00007
NM_019023.5(PRMT7):c.499G>A (p.Val167Met) rs138763605 0.00007
NM_020686.6(ABAT):c.1157C>T (p.Pro386Leu) rs775339966 0.00007
NM_024642.5(GALNT12):c.608A>G (p.Asn203Ser) rs375844934 0.00007
NM_178857.6(RP1L1):c.236G>A (p.Arg79His) rs373251905 0.00007
NM_000038.6(APC):c.4249A>C (p.Ile1417Leu) rs200166878 0.00006
NM_000038.6(APC):c.5140G>A (p.Asp1714Asn) rs148275069 0.00006
NM_000051.4(ATM):c.1010G>A (p.Arg337His) rs202160435 0.00006
NM_000051.4(ATM):c.3614G>A (p.Arg1205His) rs769106895 0.00006
NM_000051.4(ATM):c.3689A>G (p.Asn1230Ser) rs587782195 0.00006
NM_000051.4(ATM):c.6315G>C (p.Arg2105Ser) rs587780632 0.00006
NM_000057.4(BLM):c.4126A>G (p.Ile1376Val) rs587779892 0.00006
NM_000057.4(BLM):c.542G>T (p.Ser181Ile) rs587779893 0.00006
NM_000059.4(BRCA2):c.831T>G (p.Asn277Lys) rs28897705 0.00006
NM_000136.3(FANCC):c.767A>G (p.His256Arg) rs730881716 0.00006
NM_000142.5(FGFR3):c.272C>T (p.Pro91Leu) rs144995231 0.00006
NM_000179.3(MSH6):c.3986C>T (p.Ser1329Leu) rs199594809 0.00006
NM_000245.4(MET):c.818C>A (p.Thr273Asn) rs368144654 0.00006
NM_000249.4(MLH1):c.1013A>G (p.Asn338Ser) rs63751467 0.00006
NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg) rs63750527 0.00006
NM_000251.3(MSH2):c.1321A>C (p.Thr441Pro) rs587779086 0.00006
NM_000264.5(PTCH1):c.2437C>G (p.Pro813Ala) rs45579032 0.00006
NM_000380.4(XPA):c.122C>T (p.Ala41Val) rs778289269 0.00006
NM_000400.4(ERCC2):c.1832T>C (p.Val611Ala) rs759116129 0.00006
NM_000548.5(TSC2):c.3100G>A (p.Val1034Ile) rs146745242 0.00006
NM_001018115.3(FANCD2):c.3290G>A (p.Arg1097Gln) rs755748094 0.00006
NM_001040108.2(MLH3):c.3455G>A (p.Arg1152His) rs374041909 0.00006
NM_001042492.3(NF1):c.7006G>A (p.Ala2336Thr) rs587781428 0.00006
NM_001113378.2(FANCI):c.2203A>G (p.Ile735Val) rs377308647 0.00006
NM_001113378.2(FANCI):c.2507A>G (p.Asn836Ser) rs933284199 0.00006
NM_001211.6(BUB1B):c.464A>G (p.Tyr155Cys) rs764923350 0.00006
NM_001291303.3(FAT4):c.12499G>A (p.Ala4167Thr) rs369432764 0.00006
NM_001322934.2(NFKB2):c.1993A>T (p.Thr665Ser) rs200139098 0.00006
NM_001365951.3(KIF1B):c.1769G>A (p.Ser590Asn) rs768672234 0.00006
NM_001365951.3(KIF1B):c.2675+3A>G rs200684032 0.00006
NM_001365951.3(KIF1B):c.4265G>A (p.Arg1422His) rs149417293 0.00006
NM_001374828.1(ARID1B):c.5672C>T (p.Pro1891Leu) rs142466273 0.00006
NM_001375462.1(LPP):c.1354C>T (p.Arg452Ter) rs202115941 0.00006
NM_001382430.1(AKT1):c.1394G>A (p.Arg465His) rs113547523 0.00006
NM_001614.5(ACTG1):c.124-9C>T rs376850595 0.00006
NM_002691.4(POLD1):c.934G>A (p.Val312Met) rs371612922 0.00006
NM_002972.4(SBF1):c.956A>G (p.His319Arg) rs372068556 0.00006
NM_004260.4(RECQL4):c.1043A>G (p.His348Arg) rs201763704 0.00006
NM_004260.4(RECQL4):c.1892G>A (p.Arg631His) rs771179943 0.00006
NM_004360.5(CDH1):c.2343A>T (p.Glu781Asp) rs587780119 0.00006
NM_004364.5(CEBPA):c.1021A>G (p.Ile341Val) rs372931505 0.00006
NM_004628.5(XPC):c.572G>A (p.Arg191Gln) rs575874780 0.00006
NM_005591.4(MRE11):c.863G>A (p.Arg288His) rs190142346 0.00006
NM_006014.5(LAGE3):c.29G>A (p.Gly10Glu) rs782019621 0.00006
NM_006231.4(POLE):c.2468+12C>T rs776938447 0.00006
NM_006261.5(PROP1):c.150del (p.Arg53fs) rs587776683 0.00006
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu) rs587780180 0.00006
NM_007194.4(CHEK2):c.541C>T (p.Arg181Cys) rs137853010 0.00006
NM_014712.3(SETD1A):c.4175G>A (p.Arg1392His) rs772206552 0.00006
NM_020975.6(RET):c.1894G>A (p.Glu632Lys) rs377767407 0.00006
NM_020975.6(RET):c.224C>T (p.Thr75Met) rs142641173 0.00006
NM_020975.6(RET):c.2527G>A (p.Glu843Lys) rs755837568 0.00006
NM_021922.3(FANCE):c.524G>A (p.Gly175Asp) rs765538271 0.00006
NM_032043.3(BRIP1):c.2087C>T (p.Pro696Leu) rs147755155 0.00006
NM_032043.3(BRIP1):c.2233G>A (p.Ala745Thr) rs587780235 0.00006
NM_032444.4(SLX4):c.1904C>T (p.Ala635Val) rs746717279 0.00006
NM_033409.4(SLC52A3):c.62A>G (p.Asn21Ser) rs199588390 0.00006
NM_152564.5(VPS13B):c.10959G>A (p.Pro3653=) rs771022240 0.00006
NM_177417.3(KLC3):c.1486G>A (p.Ala496Thr) rs368153383 0.00006
NM_177438.3(DICER1):c.248A>G (p.Tyr83Cys) rs373646414 0.00006
NM_201384.3(PLEC):c.5026C>T (p.Arg1676Cys) rs549098011 0.00006
NM_000038.6(APC):c.4688T>C (p.Leu1563Pro) rs201675099 0.00005
NM_000051.4(ATM):c.2476A>C (p.Ile826Leu) rs587782397 0.00005
NM_000057.4(BLM):c.368A>G (p.Gln123Arg) rs371223446 0.00005
NM_000059.4(BRCA2):c.8090G>A (p.Ser2697Asn) rs80359051 0.00005
NM_000138.5(FBN1):c.7051G>A (p.Gly2351Ser) rs746127796 0.00005
NM_000143.4(FH):c.1127A>C (p.Gln376Pro) rs200796606 0.00005
NM_000179.3(MSH6):c.1857A>C (p.Glu619Asp) rs63751121 0.00005
NM_000179.3(MSH6):c.3425C>T (p.Thr1142Met) rs267608089 0.00005
NM_000400.4(ERCC2):c.1237+20T>A rs758988777 0.00005
NM_000400.4(ERCC2):c.92C>T (p.Thr31Met) rs374798062 0.00005
NM_000719.7(CACNA1C):c.1673C>T (p.Thr558Met) rs572234918 0.00005
NM_001018113.3(FANCB):c.2146A>T (p.Ile716Phe) rs373141774 0.00005
NM_001048174.2(MUTYH):c.229G>A (p.Asp77Asn) rs587780746 0.00005
NM_001354604.2(MITF):c.1229C>T (p.Thr410Met) rs369552358 0.00005
NM_001370466.1(NOD2):c.1450A>G (p.Thr484Ala) rs759153904 0.00005
NM_001374353.1(GLI2):c.4339G>A (p.Gly1447Arg) rs200274772 0.00005
NM_001558.4(IL10RA):c.253G>A (p.Ala85Thr) rs148441092 0.00005
NM_001940.4(ATN1):c.1494G>T (p.Gln498His) rs199988271 0.00005
NM_001983.4(ERCC1):c.346G>A (p.Val116Met) rs200459924 0.00005
NM_002474.3(MYH11):c.5869G>C (p.Glu1957Gln) rs768140376 0.00005
NM_002485.5(NBN):c.1454C>T (p.Thr485Met) rs200891292 0.00005
NM_002691.4(POLD1):c.1295G>A (p.Arg432Gln) rs139557851 0.00005
NM_004260.4(RECQL4):c.1871T>C (p.Val624Ala) rs370912793 0.00005
NM_004260.4(RECQL4):c.2144G>A (p.Arg715Gln) rs184775551 0.00005
NM_004448.4(ERBB2):c.563G>A (p.Arg188His) rs763371007 0.00005
NM_005236.3(ERCC4):c.938T>C (p.Leu313Pro) rs150244523 0.00005
NM_005629.4(SLC6A8):c.1646A>C (p.Asn549Thr) rs782790088 0.00005
NM_005918.4(MDH2):c.191T>C (p.Val64Ala) rs782339624 0.00005
NM_006031.6(PCNT):c.389A>G (p.His130Arg) rs57046460 0.00005
NM_006206.6(PDGFRA):c.932-8C>T rs374863127 0.00005
NM_006218.4(PIK3CA):c.1528C>A (p.His510Asn) rs199747934 0.00005
NM_006767.4(LZTR1):c.2131G>A (p.Gly711Arg) rs777021795 0.00005
NM_007294.4(BRCA1):c.5176A>G (p.Arg1726Gly) rs80357501 0.00005
NM_015311.3(OBSL1):c.4123G>A (p.Asp1375Asn) rs770174055 0.00005
NM_022168.4(IFIH1):c.1222G>A (p.Asp408Asn) rs148540097 0.00005
NM_032444.4(SLX4):c.4046G>C (p.Gly1349Ala) rs151144102 0.00005
NM_144997.7(FLCN):c.346C>A (p.Gln116Lys) rs398124536 0.00005
NM_000038.6(APC):c.2627G>A (p.Arg876Gln) rs373428732 0.00004
NM_000038.6(APC):c.3436C>T (p.Arg1146Cys) rs202168805 0.00004
NM_000038.6(APC):c.5528C>T (p.Pro1843Leu) rs368080169 0.00004
NM_000051.4(ATM):c.8428A>C (p.Lys2810Gln) rs730881325 0.00004
NM_000057.4(BLM):c.98C>T (p.Ser33Leu) rs139282091 0.00004
NM_000059.4(BRCA2):c.7505G>A (p.Arg2502His) rs56070345 0.00004
NM_000059.4(BRCA2):c.887A>G (p.Tyr296Cys) rs45457795 0.00004
NM_000090.4(COL3A1):c.3607G>A (p.Ala1203Thr) rs550665335 0.00004
NM_000094.4(COL7A1):c.4445G>A (p.Arg1482Gln) rs570707807 0.00004
NM_000135.4(FANCA):c.23A>G (p.Asn8Ser) rs757468756 0.00004
NM_000135.4(FANCA):c.2674T>C (p.Ser892Pro) rs778179583 0.00004
NM_000136.3(FANCC):c.748C>A (p.Leu250Ile) rs778966663 0.00004
NM_000153.4(GALC):c.196-9T>C rs776907825 0.00004
NM_000204.5(CFI):c.1015C>T (p.Arg339Ter) rs762761680 0.00004
NM_000213.5(ITGB4):c.4067C>T (p.Ser1356Phe) rs376560109 0.00004
NM_000222.3(KIT):c.52C>T (p.Leu18Phe) rs370787811 0.00004
NM_000245.4(MET):c.1984A>G (p.Ile662Val) rs765244598 0.00004
NM_000264.5(PTCH1):c.1067+5G>C rs372657547 0.00004
NM_000380.4(XPA):c.152C>G (p.Thr51Arg) rs778315426 0.00004
NM_000384.3(APOB):c.9406C>T (p.Arg3136Cys) rs72653102 0.00004
NM_000535.7(PMS2):c.961G>A (p.Val321Ile) rs377043696 0.00004
NM_000540.3(RYR1):c.4108G>A (p.Ala1370Thr) rs766147636 0.00004
NM_000548.5(TSC2):c.3365G>A (p.Arg1122His) rs369536711 0.00004
NM_000548.5(TSC2):c.4662+11G>A rs761569930 0.00004
NM_000553.6(WRN):c.2651G>A (p.Arg884His) rs771294955 0.00004
NM_001005498.4(RHBDF2):c.1637C>T (p.Pro546Leu) rs756654862 0.00004
NM_001018115.3(FANCD2):c.1810G>A (p.Asp604Asn) rs145170666 0.00004
NM_001018115.3(FANCD2):c.4052C>T (p.Thr1351Met) rs775898191 0.00004
NM_001039141.3(TRIOBP):c.2144C>T (p.Thr715Ile) rs372618248 0.00004
NM_001048174.2(MUTYH):c.305-6C>T rs376600220 0.00004
NM_001127453.2(GSDME):c.203C>T (p.Pro68Leu) rs369689648 0.00004
NM_001134407.3(GRIN2A):c.547T>A (p.Phe183Ile) rs587780353 0.00004
NM_001199138.2(NLRC4):c.772T>C (p.Cys258Arg) rs916856506 0.00004
NM_001354604.2(MITF):c.1157G>A (p.Arg386Gln) rs775320252 0.00004
NM_001379659.1(ZNF142):c.3067C>T (p.Arg1023Trp) rs775971362 0.00004
NM_002439.5(MSH3):c.1361G>A (p.Arg454Gln) rs144798521 0.00004
NM_002485.5(NBN):c.633T>A (p.Asp211Glu) rs377700348 0.00004
NM_002485.5(NBN):c.73G>A (p.Val25Ile) rs587781748 0.00004
NM_002485.5(NBN):c.803C>T (p.Thr268Met) rs535602436 0.00004
NM_003001.5(SDHC):c.242-15T>C rs961762320 0.00004
NM_004064.5(CDKN1B):c.25G>A (p.Gly9Arg) rs755225286 0.00004
NM_004168.4(SDHA):c.1115C>G (p.Pro372Arg) rs141493530 0.00004
NM_004260.4(RECQL4):c.1561C>T (p.Arg521Trp) rs555407951 0.00004
NM_004260.4(RECQL4):c.2125C>T (p.Arg709Trp) rs199562131 0.00004
NM_004304.5(ALK):c.1787T>C (p.Met596Thr) rs754810505 0.00004
NM_004360.5(CDH1):c.2387G>A (p.Arg796Gln) rs587782549 0.00004
NM_004360.5(CDH1):c.712A>C (p.Asn238His) rs730881664 0.00004
NM_004448.4(ERBB2):c.734C>T (p.Thr245Met) rs376183465 0.00004
NM_004628.5(XPC):c.1522A>G (p.Lys508Glu) rs759355579 0.00004
NM_004628.5(XPC):c.1975A>G (p.Ile659Val) rs774578624 0.00004
NM_004656.4(BAP1):c.1891-59C>A rs755020488 0.00004
NM_004984.4(KIF5A):c.2803C>T (p.Pro935Ser) rs764612223 0.00004
NM_005228.5(EGFR):c.1998C>G (p.Leu666=) rs779909747 0.00004
NM_005236.3(ERCC4):c.37G>A (p.Ala13Thr) rs374243778 0.00004
NM_005585.5(SMAD6):c.938C>T (p.Pro313Leu) rs748388661 0.00004
NM_005732.4(RAD50):c.695C>A (p.Ala232Asp) rs28903089 0.00004
NM_006206.6(PDGFRA):c.2897A>G (p.His966Arg) rs200042995 0.00004
NM_006231.4(POLE):c.2599G>A (p.Val867Ile) rs374200895 0.00004
NM_006231.4(POLE):c.4952+17C>T rs750268044 0.00004
NM_006516.4(SLC2A1):c.125A>C (p.Glu42Ala) rs748082803 0.00004
NM_006922.4(SCN3A):c.1124C>G (p.Ser375Cys) rs148689026 0.00004
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp) rs121908705 0.00004
NM_007272.3(CTRC):c.549C>T (p.His183=) rs554399153 0.00004
NM_007294.4(BRCA1):c.4669G>C (p.Asp1557His) rs80356906 0.00004
NM_007327.4(GRIN1):c.1076G>A (p.Arg359His) rs141704101 0.00004
NM_019112.4(ABCA7):c.679G>A (p.Val227Ile) rs375055112 0.00004
NM_020975.6(RET):c.3094G>A (p.Gly1032Ser) rs757373375 0.00004
NM_020975.6(RET):c.3253A>G (p.Thr1085Ala) rs756465544 0.00004
NM_021922.3(FANCE):c.869G>A (p.Arg290Lys) rs747078723 0.00004
NM_022455.5(NSD1):c.3178C>T (p.Pro1060Ser) rs188847458 0.00004
NM_032043.3(BRIP1):c.415T>G (p.Ser139Ala) rs202072866 0.00004
NM_032043.3(BRIP1):c.590C>T (p.Ser197Phe) rs533184563 0.00004
NM_032444.4(SLX4):c.1846G>A (p.Val616Met) rs199863797 0.00004
NM_032444.4(SLX4):c.3190G>A (p.Gly1064Arg) rs142079276 0.00004
NM_032444.4(SLX4):c.4637-17T>G rs112687420 0.00004
NM_032638.5(GATA2):c.1391G>T (p.Ser464Ile) rs770949428 0.00004
NM_033087.4(ALG2):c.19C>T (p.Arg7Trp) rs761793563 0.00004
NM_152383.5(DIS3L2):c.2362C>T (p.Arg788Cys) rs777778396 0.00004
NM_172362.3(KCNH1):c.544T>A (p.Ser182Thr) rs749800577 0.00004
NM_176795.5(HRAS):c.481G>A (p.Gly161Arg) rs750721065 0.00004
NM_177438.3(DICER1):c.1468C>T (p.Arg490Cys) rs777894117 0.00004
NM_000038.6(APC):c.5179T>C (p.Cys1727Arg) rs758815860 0.00003
NM_000038.6(APC):c.5635G>T (p.Ala1879Ser) rs587779799 0.00003
NM_000038.6(APC):c.7174C>A (p.Pro2392Thr) rs730881257 0.00003
NM_000038.6(APC):c.8383G>A (p.Ala2795Thr) rs369264968 0.00003
NM_000051.4(ATM):c.2519A>T (p.Asp840Val) rs786202605 0.00003
NM_000057.4(BLM):c.3922G>A (p.Gly1308Arg) rs768010078 0.00003
NM_000059.4(BRCA2):c.4301A>T (p.Lys1434Ile) rs397507714 0.00003
NM_000094.4(COL7A1):c.2045G>A (p.Arg682Gln) rs772900092 0.00003
NM_000122.2(ERCC3):c.658-7C>G rs200361738 0.00003
NM_000135.4(FANCA):c.81G>A (p.Ala27=) rs150247726 0.00003
NM_000179.3(MSH6):c.362G>A (p.Arg121His) rs769279475 0.00003
NM_000249.4(MLH1):c.191A>G (p.Asn64Ser) rs63750952 0.00003
NM_000268.4(NF2):c.170G>A (p.Arg57Gln) rs368773485 0.00003
NM_000368.5(TSC1):c.568C>T (p.Arg190Cys) rs118203400 0.00003
NM_000368.5(TSC1):c.941C>T (p.Thr314Met) rs373454700 0.00003
NM_000388.4(CASR):c.1144G>A (p.Asp382Asn) rs199980578 0.00003
NM_000431.4(MVK):c.362G>A (p.Arg121Gln) rs371511147 0.00003
NM_000535.7(PMS2):c.2288A>G (p.Glu763Gly) rs587780052 0.00003
NM_000548.5(TSC2):c.1600G>T (p.Val534Leu) rs587778729 0.00003
NM_000548.5(TSC2):c.3145G>A (p.Glu1049Lys) rs796053492 0.00003
NM_000548.5(TSC2):c.336+14C>T rs570065416 0.00003
NM_000548.5(TSC2):c.538C>G (p.Leu180Val) rs45485591 0.00003
NM_000553.6(WRN):c.4001T>G (p.Leu1334Arg) rs200403732 0.00003
NM_001005498.4(RHBDF2):c.1301C>T (p.Ser434Leu) rs369966353 0.00003
NM_001018113.3(FANCB):c.1103C>T (p.Ser368Leu) rs143585647 0.00003
NM_001018115.3(FANCD2):c.2965C>G (p.Pro989Ala) rs200568638 0.00003
NM_001048174.2(MUTYH):c.991C>A (p.Pro331Thr) rs587782773 0.00003
NM_001113378.2(FANCI):c.1699-11C>T rs753750358 0.00003
NM_001165963.4(SCN1A):c.3752T>C (p.Met1251Thr) rs749638533 0.00003
NM_001204425.2(BIVM-ERCC5):c.1676C>T (p.Thr559Met) rs544189029 0.00003
NM_001323289.2(CDKL5):c.282+19A>G rs781452978 0.00003
NM_001382430.1(AKT1):c.1198A>G (p.Lys400Glu) rs773607483 0.00003
NM_001845.6(COL4A1):c.2333A>G (p.Gln778Arg) rs750620293 0.00003
NM_001983.4(ERCC1):c.253G>A (p.Gly85Arg) rs774734081 0.00003
NM_002168.4(IDH2):c.588C>G (p.Phe196Leu) rs758536587 0.00003
NM_002354.3(EPCAM):c.134A>T (p.Gln45Leu) rs372142268 0.00003
NM_002471.4(MYH6):c.1885G>A (p.Asp629Asn) rs180904654 0.00003
NM_002485.5(NBN):c.2215C>G (p.Leu739Val) rs370058152 0.00003
NM_002691.4(POLD1):c.2954G>C (p.Arg985Pro) rs749159160 0.00003
NM_003242.6(TGFBR2):c.671G>A (p.Arg224His) rs112465572 0.00003
NM_004064.5(CDKN1B):c.464C>G (p.Pro155Arg) rs143879243 0.00003
NM_004260.4(RECQL4):c.511C>T (p.Arg171Trp) rs775651175 0.00003
NM_004360.5(CDH1):c.1417G>A (p.Val473Ile) rs36087757 0.00003
NM_004360.5(CDH1):c.304G>A (p.Ala102Thr) rs368492235 0.00003
NM_004364.5(CEBPA):c.568T>C (p.Ser190Pro) rs867463920 0.00003
NM_004606.5(TAF1):c.3395G>A (p.Arg1132Gln) rs759643494 0.00003
NM_004608.4(TBX6):c.1291G>A (p.Gly431Ser) rs772698551 0.00003
NM_004628.5(XPC):c.2437G>A (p.Val813Ile) rs371576722 0.00003
NM_004656.4(BAP1):c.1218G>T (p.Glu406Asp) rs752703914 0.00003
NM_005236.3(ERCC4):c.109C>T (p.Arg37Cys) rs144602005 0.00003
NM_005236.3(ERCC4):c.2102G>A (p.Arg701His) rs762543560 0.00003
NM_005236.3(ERCC4):c.2339C>G (p.Ser780Cys) rs766596368 0.00003
NM_005591.4(MRE11):c.1507C>T (p.Arg503Cys) rs761458720 0.00003
NM_005732.4(RAD50):c.785T>G (p.Leu262Arg) rs201728859 0.00003
NM_006231.4(POLE):c.1274A>G (p.Lys425Arg) rs757186755 0.00003
NM_006231.4(POLE):c.1837G>A (p.Val613Ile) rs200471266 0.00003
NM_006231.4(POLE):c.2027-12C>G rs767811987 0.00003
NM_006231.4(POLE):c.4112G>A (p.Arg1371Gln) rs535074635 0.00003
NM_006767.4(LZTR1):c.2401A>C (p.Thr801Pro) rs1215965010 0.00003
NM_017849.4(TMEM127):c.221A>G (p.Tyr74Cys) rs747804736 0.00003
NM_017849.4(TMEM127):c.281G>A (p.Arg94Gln) rs746831347 0.00003
NM_018100.4(EFHC1):c.1639A>G (p.Ser547Gly) rs759767484 0.00003
NM_020937.4(FANCM):c.5683T>C (p.Cys1895Arg) rs148945714 0.00003
NM_022455.5(NSD1):c.2032A>G (p.Met678Val) rs773904155 0.00003
NM_022455.5(NSD1):c.682C>G (p.Pro228Ala) rs770522999 0.00003
NM_022725.4(FANCF):c.101C>T (p.Ala34Val) rs780228540 0.00003
NM_022725.4(FANCF):c.149G>C (p.Arg50Pro) rs371420932 0.00003
NM_024642.5(GALNT12):c.1703A>G (p.Asn568Ser) rs749874941 0.00003
NM_032043.3(BRIP1):c.1153C>A (p.Leu385Met) rs748001678 0.00003
NM_032043.3(BRIP1):c.2806G>A (p.Glu936Lys) rs754280048 0.00003
NM_032444.4(SLX4):c.-11G>A rs755915542 0.00003
NM_032444.4(SLX4):c.1547C>T (p.Ala516Val) rs199683722 0.00003
NM_032444.4(SLX4):c.4367G>A (p.Arg1456His) rs774858804 0.00003
NM_032444.4(SLX4):c.553G>A (p.Asp185Asn) rs201769293 0.00003
NM_080669.6(SLC46A1):c.817G>T (p.Ala273Ser) rs781978069 0.00003
NM_144997.7(FLCN):c.1430G>A (p.Arg477Gln) rs748878853 0.00003
NM_153717.3(EVC):c.920C>G (p.Ser307Cys) rs372548610 0.00003
NM_198253.3(TERT):c.2971-10G>T rs878855303 0.00003
NM_000038.6(APC):c.8071A>G (p.Asn2691Asp) rs1060503281 0.00002
NM_000051.4(ATM):c.3371A>T (p.Tyr1124Phe) rs876660498 0.00002
NM_000057.4(BLM):c.3019+11C>A rs776916080 0.00002
NM_000059.4(BRCA2):c.3962A>G (p.Asp1321Gly) rs80358645 0.00002
NM_000122.2(ERCC3):c.1549G>A (p.Glu517Lys) rs781202683 0.00002
NM_000123.4(ERCC5):c.2282C>T (p.Ala761Val) rs767150364 0.00002
NM_000245.4(MET):c.1640G>A (p.Arg547Gln) rs761951444 0.00002
NM_000251.3(MSH2):c.1510+11G>C rs370675562 0.00002
NM_000251.3(MSH2):c.2178G>C (p.Met726Ile) rs587782396 0.00002
NM_000257.4(MYH7):c.4170-5G>A rs755468667 0.00002
NM_000268.4(NF2):c.1738-19C>A rs958907803 0.00002
NM_000268.4(NF2):c.599+3G>A rs768301915 0.00002
NM_000292.3(PHKA2):c.2272G>A (p.Val758Met) rs1431642322 0.00002
NM_000321.3(RB1):c.-11G>A rs1376823332 0.00002
NM_000368.5(TSC1):c.3253A>G (p.Lys1085Glu) rs1442514678 0.00002
NM_000368.5(TSC1):c.947G>A (p.Arg316Gln) rs375956049 0.00002
NM_000380.4(XPA):c.620G>A (p.Arg207Gln) rs763295621 0.00002
NM_000400.4(ERCC2):c.1665+17C>A rs774329591 0.00002
NM_000435.3(NOTCH3):c.1247T>A (p.Leu416Gln) rs749874158 0.00002
NM_000465.4(BARD1):c.1693C>T (p.Arg565Cys) rs587782279 0.00002
NM_000489.6(ATRX):c.6207T>C (p.Leu2069=) rs369953134 0.00002
NM_000535.7(PMS2):c.1981G>A (p.Glu661Lys) rs778531080 0.00002
NM_000535.7(PMS2):c.2240G>C (p.Arg747Thr) rs587782671 0.00002
NM_000535.7(PMS2):c.2264T>C (p.Ile755Thr) rs386833410 0.00002
NM_000540.3(RYR1):c.10970A>G (p.Tyr3657Cys) rs748470645 0.00002
NM_000546.6(TP53):c.665C>T (p.Pro222Leu) rs146340390 0.00002
NM_000548.5(TSC2):c.5014A>G (p.Ile1672Val) rs374066182 0.00002
NM_000548.5(TSC2):c.5251C>T (p.Arg1751Cys) rs781630603 0.00002
NM_000791.4(DHFR):c.-425G>C rs2405876 0.00002
NM_001042492.3(NF1):c.2617C>T (p.Arg873Cys) rs199474739 0.00002
NM_001042492.3(NF1):c.7055A>G (p.Asn2352Ser) rs763082717 0.00002
NM_001048174.2(MUTYH):c.916C>G (p.Pro306Ala) rs587778537 0.00002
NM_001127511.3(APC):c.166-28443T>A rs751998391 0.00002
NM_001148.6(ANK2):c.3373G>C (p.Asp1125His) rs1043468981 0.00002
NM_001211.6(BUB1B):c.581G>A (p.Arg194Gln) rs567916146 0.00002
NM_001365951.3(KIF1B):c.3119A>G (p.Tyr1040Cys) rs751434716 0.00002
NM_001365951.3(KIF1B):c.5039G>A (p.Arg1680Gln) rs775552504 0.00002
NM_001365951.3(KIF1B):c.5423G>A (p.Arg1808His) rs770215708 0.00002
NM_001369.3(DNAH5):c.2578-5G>T rs76559205 0.00002
NM_001983.4(ERCC1):c.181G>A (p.Ala61Thr) rs774917558 0.00002
NM_002292.4(LAMB2):c.1518+5G>A rs768311062 0.00002
NM_002439.5(MSH3):c.2135T>C (p.Ile712Thr) rs369015749 0.00002
NM_002439.5(MSH3):c.359-17C>G rs761027175 0.00002
NM_002485.5(NBN):c.1667T>A (p.Val556Glu) rs558023830 0.00002
NM_002609.4(PDGFRB):c.2335G>A (p.Val779Ile) rs758890727 0.00002
NM_002637.4(PHKA1):c.3088A>G (p.Met1030Val) rs782360415 0.00002
NM_002641.4(PIGA):c.290T>C (p.Met97Thr) rs1922159113 0.00002
NM_002878.4(RAD51D):c.872G>A (p.Arg291His) rs150134822 0.00002
NM_003000.3(SDHB):c.739A>G (p.Met247Val) rs200896502 0.00002
NM_003072.5(SMARCA4):c.4754G>T (p.Gly1585Val) rs148115492 0.00002
NM_003072.5(SMARCA4):c.4769-13C>T rs532169644 0.00002
NM_003072.5(SMARCA4):c.4916G>A (p.Arg1639His) rs867536416 0.00002
NM_003073.5(SMARCB1):c.1142C>T (p.Thr381Met) rs1387467529 0.00002
NM_003977.4(AIP):c.822C>A (p.Ala274=) rs145142121 0.00002
NM_004006.3(DMD):c.6225G>A (p.Gln2075=) rs1226885639 0.00002
NM_004006.3(DMD):c.7892G>A (p.Arg2631His) rs748007790 0.00002
NM_004184.4(WARS1):c.398G>A (p.Arg133His) rs925136221 0.00002
NM_004260.4(RECQL4):c.2207C>G (p.Ala736Gly) rs771790911 0.00002
NM_004360.5(CDH1):c.1273G>A (p.Val425Ile) rs570930882 0.00002
NM_004360.5(CDH1):c.188G>A (p.Arg63Gln) rs587780117 0.00002
NM_004360.5(CDH1):c.866C>T (p.Ala289Val) rs780399325 0.00002
NM_004448.4(ERBB2):c.3149C>T (p.Ser1050Leu) rs199905364 0.00002
NM_004463.3(FGD1):c.2167C>T (p.Arg723Trp) rs370970773 0.00002
NM_004628.5(XPC):c.2512G>A (p.Glu838Lys) rs780651535 0.00002
NM_004629.2(FANCG):c.176-10G>A rs376273679 0.00002
NM_004998.4(MYO1E):c.2193G>T (p.Glu731Asp) rs375940461 0.00002
NM_005120.3(MED12):c.439G>A (p.Ala147Thr) rs748453083 0.00002
NM_005236.3(ERCC4):c.256C>T (p.Arg86Cys) rs769932063 0.00002
NM_005236.3(ERCC4):c.700A>C (p.Asn234His) rs368218302 0.00002
NM_005591.4(MRE11):c.77T>C (p.Met26Thr) rs372068015 0.00002
NM_005631.5(SMO):c.1684C>T (p.Arg562Trp) rs138072219 0.00002
NM_006231.4(POLE):c.110G>A (p.Arg37Gln) rs377002290 0.00002
NM_006231.4(POLE):c.1852G>A (p.Glu618Lys) rs1377657524 0.00002
NM_006231.4(POLE):c.2527A>G (p.Ile843Val) rs780758461 0.00002
NM_006231.4(POLE):c.3890C>T (p.Ser1297Leu) rs746585658 0.00002
NM_006231.4(POLE):c.4090C>T (p.Arg1364Cys) rs770024304 0.00002
NM_006280.3(SSR4):c.421A>G (p.Thr141Ala) rs782385685 0.00002
NM_006767.4(LZTR1):c.264-9G>T rs377233316 0.00002
NM_007194.4(CHEK2):c.1175C>T (p.Ala392Val) rs373073383 0.00002
NM_014927.5(CNKSR2):c.2884T>G (p.Leu962Val) rs374280560 0.00002
NM_015450.3(POT1):c.1183G>A (p.Gly395Ser) rs757373061 0.00002
NM_017617.5(NOTCH1):c.2969+7G>A rs770026189 0.00002
NM_017654.4(SAMD9):c.568C>T (p.Leu190Phe) rs372825129 0.00002
NM_017721.5(CC2D1A):c.490C>T (p.Arg164Trp) rs781491587 0.00002
NM_017841.4(SDHAF2):c.98G>A (p.Arg33His) rs777442412 0.00002
NM_018062.4(FANCL):c.641T>C (p.Leu214Pro) rs766618785 0.00002
NM_018100.4(EFHC1):c.77A>C (p.His26Pro) rs548766587 0.00002
NM_020937.4(FANCM):c.2575A>G (p.Lys859Glu) rs188528606 0.00002
NM_020937.4(FANCM):c.352A>G (p.Thr118Ala) rs1227473930 0.00002
NM_021922.3(FANCE):c.661C>T (p.Arg221Trp) rs771767241 0.00002
NM_021922.3(FANCE):c.8C>T (p.Thr3Ile) rs1405929258 0.00002
NM_022168.4(IFIH1):c.*7del rs760571400 0.00002
NM_022455.5(NSD1):c.2174C>T (p.Thr725Met) rs774810620 0.00002
NM_024642.5(GALNT12):c.1446G>A (p.Met482Ile) rs1060502970 0.00002
NM_032043.3(BRIP1):c.3331G>C (p.Glu1111Gln) rs587780248 0.00002
NM_032193.4(RNASEH2C):c.228G>C (p.Pro76=) rs753182283 0.00002
NM_032444.4(SLX4):c.2843C>T (p.Ala948Val) rs781462011 0.00002
NM_032444.4(SLX4):c.3316G>A (p.Val1106Met) rs200057338 0.00002
NM_033360.4(KRAS):c.249C>T (p.Ala83=) rs751117590 0.00002
NM_177438.3(DICER1):c.3847A>G (p.Ile1283Val) rs548255758 0.00002
NM_198253.3(TERT):c.550G>A (p.Ala184Thr) rs773758089 0.00002
NM_207122.2(EXT2):c.1306-7C>G rs771232346 0.00002
NC_000016.10:g.67660304C>T rs1406176384 0.00001
NM_000038.6(APC):c.2545G>A (p.Asp849Asn) rs752193945 0.00001
NM_000038.6(APC):c.3220A>G (p.Thr1074Ala) rs962456431 0.00001
NM_000038.6(APC):c.3323A>G (p.Asn1108Ser) rs151286353 0.00001
NM_000038.6(APC):c.4091G>A (p.Ser1364Asn) rs1391469838 0.00001
NM_000038.6(APC):c.4213G>A (p.Val1405Ile) rs761966904 0.00001
NM_000038.6(APC):c.5138T>C (p.Leu1713Ser) rs587779797 0.00001
NM_000038.6(APC):c.775C>T (p.Arg259Trp) rs762117133 0.00001
NM_000038.6(APC):c.7766A>G (p.Glu2589Gly) rs200406572 0.00001
NM_000038.6(APC):c.7778A>G (p.Asn2593Ser) rs367676584 0.00001
NM_000038.6(APC):c.8057T>C (p.Val2686Ala) rs757901425 0.00001
NM_000038.6(APC):c.8399C>T (p.Ala2800Val) rs141024271 0.00001
NM_000051.4(ATM):c.1112C>T (p.Thr371Ile) rs879254289 0.00001
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln) rs202173660 0.00001
NM_000051.4(ATM):c.1960C>A (p.Gln654Lys) rs528165789 0.00001
NM_000051.4(ATM):c.2260C>A (p.Gln754Lys) rs3205809 0.00001
NM_000051.4(ATM):c.280A>G (p.Met94Val) rs864622758 0.00001
NM_000051.4(ATM):c.3176C>T (p.Ala1059Val) rs761590782 0.00001
NM_000051.4(ATM):c.4631A>G (p.Tyr1544Cys) rs779718362 0.00001
NM_000051.4(ATM):c.4975A>G (p.Ile1659Val) rs778632065 0.00001
NM_000051.4(ATM):c.4997A>C (p.Glu1666Ala) rs1457261046 0.00001
NM_000051.4(ATM):c.5488A>G (p.Met1830Val) rs587781622 0.00001
NM_000051.4(ATM):c.5630T>C (p.Phe1877Ser) rs202028401 0.00001
NM_000051.4(ATM):c.6096-3T>C rs748380897 0.00001
NM_000051.4(ATM):c.7108A>G (p.Asn2370Asp) rs767494363 0.00001
NM_000051.4(ATM):c.7468C>T (p.Leu2490Phe) rs753262623 0.00001
NM_000051.4(ATM):c.7568T>G (p.Leu2523Trp) rs747145967 0.00001
NM_000051.4(ATM):c.7793G>A (p.Arg2598Gln) rs140263969 0.00001
NM_000051.4(ATM):c.8393C>A (p.Ala2798Asp) rs772992098 0.00001
NM_000051.4(ATM):c.9166G>T (p.Val3056Leu) rs371767164 0.00001
NM_000057.4(BLM):c.1496C>T (p.Ser499Phe) rs778700833 0.00001
NM_000057.4(BLM):c.44G>A (p.Arg15His) rs752755503 0.00001
NM_000059.4(BRCA2):c.1888A>G (p.Thr630Ala) rs1335307553 0.00001
NM_000059.4(BRCA2):c.3211C>T (p.His1071Tyr) rs80358564 0.00001
NM_000059.4(BRCA2):c.4319A>G (p.Lys1440Arg) rs80358669 0.00001
NM_000059.4(BRCA2):c.4703A>G (p.Lys1568Arg) rs80358699 0.00001
NM_000059.4(BRCA2):c.5882G>A (p.Ser1961Asn) rs80358820 0.00001
NM_000059.4(BRCA2):c.599C>T (p.Thr200Ile) rs587781402 0.00001
NM_000059.4(BRCA2):c.6289A>G (p.Thr2097Ala) rs587781965 0.00001
NM_000059.4(BRCA2):c.6467C>T (p.Ser2156Phe) rs765575482 0.00001
NM_000059.4(BRCA2):c.7669G>A (p.Ala2557Thr) rs876658624 0.00001
NM_000059.4(BRCA2):c.7928C>G (p.Ala2643Gly) rs80359018 0.00001
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075 0.00001
NM_000059.4(BRCA2):c.9242T>C (p.Val3081Ala) rs80359189 0.00001
NM_000075.4(CDK4):c.629G>A (p.Arg210Gln) rs373619077 0.00001
NM_000093.5(COL5A1):c.2593-3C>T rs199895142 0.00001
NM_000093.5(COL5A1):c.4750C>T (p.Arg1584Trp) rs758378927 0.00001
NM_000107.3(DDB2):c.*13A>G rs774235977 0.00001
NM_000107.3(DDB2):c.652A>G (p.Thr218Ala) rs754261384 0.00001
NM_000122.2(ERCC3):c.1700C>T (p.Ala567Val) rs1474396878 0.00001
NM_000122.2(ERCC3):c.1900C>T (p.Arg634Cys) rs1174382080 0.00001
NM_000123.4(ERCC5):c.1954+4C>T rs991926537 0.00001
NM_000123.4(ERCC5):c.2603C>A (p.Thr868Asn) rs1268601442 0.00001
NM_000135.4(FANCA):c.3230T>A (p.Met1077Lys) rs776603588 0.00001
NM_000135.4(FANCA):c.3238C>T (p.Arg1080Trp) rs760392231 0.00001
NM_000135.4(FANCA):c.338C>T (p.Ser113Leu) rs149903404 0.00001
NM_000135.4(FANCA):c.4T>A (p.Ser2Thr) rs2041144813 0.00001
NM_000135.4(FANCA):c.549G>T (p.Trp183Cys) rs758528624 0.00001
NM_000135.4(FANCA):c.55C>T (p.Arg19Trp) rs1300733063 0.00001
NM_000135.4(FANCA):c.882C>G (p.Ile294Met) rs754520622 0.00001
NM_000135.4(FANCA):c.917C>T (p.Thr306Met) rs370852532 0.00001
NM_000136.3(FANCC):c.739C>T (p.Leu247Phe) rs1554835099 0.00001
NM_000136.3(FANCC):c.943A>G (p.Ile315Val) rs587779910 0.00001
NM_000143.4(FH):c.1048C>T (p.Arg350Trp) rs755436052 0.00001
NM_000143.4(FH):c.28C>T (p.Arg10Cys) rs201507555 0.00001
NM_000143.4(FH):c.327T>G (p.Asp109Glu) rs757312078 0.00001
NM_000143.4(FH):c.763G>A (p.Val255Ile) rs752144845 0.00001
NM_000153.4(GALC):c.1949T>C (p.Leu650Pro) rs1249991480 0.00001
NM_000179.3(MSH6):c.1127A>G (p.Glu376Gly) rs764150912 0.00001
NM_000179.3(MSH6):c.2107A>G (p.Met703Val) rs751867550 0.00001
NM_000179.3(MSH6):c.2992T>A (p.Ser998Thr) rs730881800 0.00001
NM_000179.3(MSH6):c.361C>T (p.Arg121Cys) rs763593669 0.00001
NM_000179.3(MSH6):c.713C>A (p.Ser238Tyr) rs587782510 0.00001
NM_000186.4(CFH):c.1934C>T (p.Thr645Met) rs749232210 0.00001
NM_000199.5(SGSH):c.1A>G (p.Met1Val) rs1250300189 0.00001
NM_000222.3(KIT):c.1781C>T (p.Thr594Ile) rs375351432 0.00001
NM_000222.3(KIT):c.2757A>T (p.Gln919His) rs770617877 0.00001
NM_000222.3(KIT):c.2873A>G (p.Asn958Ser) rs1060502563 0.00001
NM_000249.4(MLH1):c.1103C>T (p.Ser368Leu) rs201673334 0.00001
NM_000249.4(MLH1):c.29G>A (p.Arg10Gln) rs777971423 0.00001
NM_000249.4(MLH1):c.541G>A (p.Gly181Ser) rs1064795694 0.00001
NM_000249.4(MLH1):c.622C>T (p.Pro208Ser) rs587781509 0.00001
NM_000251.3(MSH2):c.1462T>G (p.Leu488Val) rs587781314 0.00001
NM_000251.3(MSH2):c.2048G>T (p.Gly683Val) rs755920849 0.00001
NM_000251.3(MSH2):c.2459-12A>C rs267608012 0.00001
NM_000251.3(MSH2):c.2798C>T (p.Thr933Ile) rs587779968 0.00001
NM_000251.3(MSH2):c.775C>T (p.Pro259Ser) rs587781294 0.00001
NM_000264.5(PTCH1):c.1733C>T (p.Ala578Val) rs960630296 0.00001
NM_000302.4(PLOD1):c.1780G>A (p.Glu594Lys) rs777937910 0.00001
NM_000321.3(RB1):c.1325G>C (p.Gly442Ala) rs1370947947 0.00001
NM_000368.5(TSC1):c.3010A>G (p.Met1004Val) rs371879917 0.00001
NM_000368.5(TSC1):c.809C>T (p.Ser270Leu) rs878853968 0.00001
NM_000400.4(ERCC2):c.1105C>T (p.Arg369Cys) rs974354644 0.00001
NM_000400.4(ERCC2):c.1876G>A (p.Val626Ile) rs139002770 0.00001
NM_000400.4(ERCC2):c.365C>T (p.Thr122Ile) rs770334103 0.00001
NM_000400.4(ERCC2):c.839G>A (p.Arg280His) rs755174338 0.00001
NM_000400.4(ERCC2):c.869A>T (p.Glu290Val) rs1294229556 0.00001
NM_000455.5(STK11):c.841C>A (p.Pro281Thr) rs377208033 0.00001
NM_000465.4(BARD1):c.1757G>T (p.Ser586Ile) rs369756202 0.00001
NM_000465.4(BARD1):c.1904-10T>G rs768259863 0.00001
NM_000465.4(BARD1):c.1904-12T>G rs774178253 0.00001
NM_000465.4(BARD1):c.490C>G (p.Gln164Glu) rs750350372 0.00001
NM_000465.4(BARD1):c.54C>G (p.Asn18Lys) rs587780032 0.00001
NM_000532.5(PCCB):c.704C>T (p.Thr235Ile) rs1410754943 0.00001
NM_000535.7(PMS2):c.1363T>C (p.Ser455Pro) rs1554297839 0.00001
NM_000535.7(PMS2):c.1705A>G (p.Thr569Ala) rs762151417 0.00001
NM_000535.7(PMS2):c.1753C>A (p.Leu585Ile) rs63750947 0.00001
NM_000535.7(PMS2):c.2438G>T (p.Arg813Leu) rs587782665 0.00001
NM_000535.7(PMS2):c.502G>A (p.Val168Met) rs762645507 0.00001
NM_000535.7(PMS2):c.913C>G (p.Leu305Val) rs750420143 0.00001
NM_000546.6(TP53):c.393C>A (p.Asn131Lys) rs769270327 0.00001
NM_000548.5(TSC2):c.213G>T (p.Lys71Asn) rs766200310 0.00001
NM_000548.5(TSC2):c.257C>T (p.Ala86Val) rs1369594860 0.00001
NM_000548.5(TSC2):c.2681C>T (p.Ala894Val) rs777282955 0.00001
NM_000551.4(VHL):c.548C>T (p.Ser183Leu) rs5030823 0.00001
NM_000834.5(GRIN2B):c.286G>C (p.Gly96Arg) rs1865819395 0.00001
NM_000836.4(GRIN2D):c.263C>T (p.Ala88Val) rs1406326967 0.00001
NM_001001344.3(ATP2B3):c.1033C>G (p.Arg345Gly) rs1416640986 0.00001
NM_001005498.4(RHBDF2):c.616C>T (p.Arg206Cys) rs1038678558 0.00001
NM_001017980.4(VMA21):c.223G>A (p.Ala75Thr) rs1464563401 0.00001
NM_001018113.3(FANCB):c.1225C>T (p.Arg409Trp) rs750569208 0.00001
NM_001018113.3(FANCB):c.1912A>G (p.Lys638Glu) rs776713934 0.00001
NM_001018113.3(FANCB):c.2365G>A (p.Glu789Lys) rs1340712652 0.00001
NM_001018115.3(FANCD2):c.1480G>T (p.Asp494Tyr) rs1312307141 0.00001
NM_001018115.3(FANCD2):c.1921C>T (p.His641Tyr) rs765128164 0.00001
NM_001018115.3(FANCD2):c.2990G>A (p.Arg997Gln) rs587778331 0.00001
NM_001018115.3(FANCD2):c.586A>G (p.Ile196Val) rs779216164 0.00001
NM_001040142.2(SCN2A):c.2001G>C (p.Gly667=) rs1323805020 0.00001
NM_001042492.3(NF1):c.2345C>G (p.Ala782Gly) rs1203924788 0.00001
NM_001042492.3(NF1):c.5167C>G (p.Gln1723Glu) rs766727694 0.00001
NM_001042492.3(NF1):c.5458A>C (p.Ile1820Leu) rs786202459 0.00001
NM_001042492.3(NF1):c.6806G>A (p.Arg2269His) rs562367786 0.00001
NM_001042492.3(NF1):c.8378-4C>T rs587782700 0.00001
NM_001042646.3(TRAK1):c.1501C>T (p.Arg501Trp) rs770373680 0.00001
NM_001048174.2(MUTYH):c.1217C>T (p.Thr406Met) rs587780084 0.00001
NM_001048174.2(MUTYH):c.595G>A (p.Ala199Thr) rs369854269 0.00001
NM_001079872.2(CUL4B):c.777-3C>T rs1467629869 0.00001
NM_001082486.2(ACD):c.1181G>A (p.Gly394Glu) rs1475118457 0.00001
NM_001082486.2(ACD):c.337-6C>T rs772943251 0.00001
NM_001110556.2(FLNA):c.1372G>A (p.Val458Ile) rs782791907 0.00001
NM_001111125.3(IQSEC2):c.419C>T (p.Pro140Leu) rs1372592100 0.00001
NM_001113378.2(FANCI):c.1442T>G (p.Val481Gly) rs775192850 0.00001
NM_001113378.2(FANCI):c.3900G>C (p.Glu1300Asp) rs749756525 0.00001
NM_001122764.3(PPOX):c.1072G>A (p.Gly358Arg) rs374936130 0.00001
NM_001127511.3(APC):c.77G>T (p.Ser26Ile) rs775738268 0.00001
NM_001130145.3(YAP1):c.236A>G (p.Asn79Ser) rs965501205 0.00001
NM_001134673.4(NFIA):c.655A>C (p.Thr219Pro) rs750817842 0.00001
NM_001148.6(ANK2):c.2852C>T (p.Thr951Ile) rs773635091 0.00001
NM_001190274.2(FBXO11):c.146C>A (p.Pro49Gln) rs1257345739 0.00001
NM_001199397.3(NEK1):c.781C>T (p.Arg261Cys) rs191859401 0.00001
NM_001211.6(BUB1B):c.1520A>G (p.Glu507Gly) rs750377734 0.00001
NM_001211.6(BUB1B):c.2792G>A (p.Arg931Gln) rs751509832 0.00001
NM_001244008.2(KIF1A):c.3776G>A (p.Arg1259His) rs761077237 0.00001
NM_001256071.3(RNF213):c.4528-5C>G rs758680846 0.00001
NM_001256071.3(RNF213):c.6710C>T (p.Pro2237Leu) rs748459913 0.00001
NM_001286577.2(C2CD3):c.4078G>A (p.Val1360Met) rs752075218 0.00001
NM_001348800.3(ZBTB20):c.181C>T (p.His61Tyr) rs555893786 0.00001
NM_001365951.3(KIF1B):c.2115+6376A>G rs1314929841 0.00001
NM_001365951.3(KIF1B):c.2115+7126C>T rs1035620392 0.00001
NM_001365951.3(KIF1B):c.2681C>G (p.Pro894Arg) rs767893182 0.00001
NM_001365951.3(KIF1B):c.2704G>A (p.Glu902Lys) rs368663292 0.00001
NM_001365951.3(KIF1B):c.4444C>T (p.Arg1482Trp) rs1461624745 0.00001
NM_001370259.2(MEN1):c.640G>A (p.Gly214Ser) rs781493730 0.00001
NM_001370466.1(NOD2):c.2353C>T (p.Pro785Ser) rs746692864 0.00001
NM_001385012.1(NBEA):c.1727C>A (p.Ser576Tyr) rs1420246722 0.00001
NM_001457.4(FLNB):c.1486G>T (p.Gly496Cys) rs747825411 0.00001
NM_002334.4(LRP4):c.2243G>A (p.Arg748Gln) rs545112106 0.00001
NM_002439.5(MSH3):c.1568+5G>A rs778804919 0.00001
NM_002439.5(MSH3):c.2936G>C (p.Arg979Thr) rs1174658305 0.00001
NM_002439.5(MSH3):c.3245T>C (p.Ile1082Thr) rs752719913 0.00001
NM_002528.7(NTHL1):c.32G>A (p.Arg11Gln) rs372992221 0.00001
NM_002528.7(NTHL1):c.637A>G (p.Met213Val) rs756963327 0.00001
NM_002539.3(ODC1):c.1211C>T (p.Thr404Met) rs758530980 0.00001
NM_002691.4(POLD1):c.2788G>A (p.Ala930Thr) rs144111108 0.00001
NM_002691.4(POLD1):c.583C>T (p.Arg195Ter) rs377690809 0.00001
NM_002875.5(RAD51):c.766G>A (p.Ala256Thr) rs374507935 0.00001
NM_002878.4(RAD51D):c.871C>T (p.Arg291Cys) rs372038369 0.00001
NM_003001.5(SDHC):c.214C>T (p.Arg72Cys) rs756676111 0.00001
NM_003072.5(SMARCA4):c.2021C>T (p.Pro674Leu) rs747463080 0.00001
NM_003072.5(SMARCA4):c.2123+7G>T rs748276210 0.00001
NM_003611.3(OFD1):c.2539G>A (p.Gly847Arg) rs1178559792 0.00001
NM_003611.3(OFD1):c.2987A>G (p.Lys996Arg) rs777790587 0.00001
NM_003611.3(OFD1):c.313G>A (p.Val105Ile) rs772018123 0.00001
NM_003977.4(AIP):c.325G>A (p.Ala109Thr) rs1865848427 0.00001
NM_003977.4(AIP):c.381G>A (p.Met127Ile) rs768435758 0.00001
NM_004064.5(CDKN1B):c.274C>T (p.Pro92Ser) rs868695692 0.00001
NM_004168.4(SDHA):c.1367C>T (p.Ser456Leu) rs76896145 0.00001
NM_004168.4(SDHA):c.1429C>T (p.Pro477Ser) rs770506764 0.00001
NM_004168.4(SDHA):c.923C>T (p.Thr308Met) rs1457666982 0.00001
NM_004260.4(RECQL4):c.1099C>T (p.Arg367Trp) rs531175632 0.00001
NM_004260.4(RECQL4):c.1150C>T (p.Arg384Trp) rs766026341 0.00001
NM_004260.4(RECQL4):c.1562G>A (p.Arg521Gln) rs747019774 0.00001
NM_004260.4(RECQL4):c.1822C>T (p.His608Tyr) rs375033380 0.00001
NM_004260.4(RECQL4):c.2258G>A (p.Arg753Gln) rs540601452 0.00001
NM_004260.4(RECQL4):c.2563T>C (p.Cys855Arg) rs867982056 0.00001
NM_004260.4(RECQL4):c.2704C>T (p.Arg902Trp) rs761231404 0.00001
NM_004304.5(ALK):c.3173T>C (p.Val1058Ala) rs772708400 0.00001
NM_004329.3(BMPR1A):c.1571T>C (p.Met524Thr) rs1843703476 0.00001
NM_004360.5(CDH1):c.1214A>G (p.Asn405Ser) rs587778175 0.00001
NM_004360.5(CDH1):c.2603G>A (p.Arg868His) rs369126891 0.00001
NM_004360.5(CDH1):c.368A>G (p.His123Arg) rs786202794 0.00001
NM_004369.4(COL6A3):c.787G>T (p.Asp263Tyr) rs774576681 0.00001
NM_004415.4(DSP):c.2617C>G (p.Gln873Glu) rs794728118 0.00001
NM_004448.4(ERBB2):c.760-5C>T rs375695147 0.00001
NM_004562.3(PRKN):c.311G>A (p.Arg104Gln) rs748892763 0.00001
NM_004628.5(XPC):c.1198G>A (p.Glu400Lys) rs781217767 0.00001
NM_004628.5(XPC):c.900T>C (p.His300=) rs929649978 0.00001
NM_004629.2(FANCG):c.109C>G (p.Leu37Val) rs754229788 0.00001
NM_004629.2(FANCG):c.308-11A>G rs371822998 0.00001
NM_004629.2(FANCG):c.541C>G (p.Leu181Val) rs778413747 0.00001
NM_004629.2(FANCG):c.634G>A (p.Ala212Thr) rs775291829 0.00001
NM_004629.2(FANCG):c.761C>T (p.Ser254Phe) rs376825957 0.00001
NM_004655.4(AXIN2):c.1291T>A (p.Tyr431Asn) rs372987093 0.00001
NM_004656.4(BAP1):c.1251-6C>A rs1249050822 0.00001
NM_004656.4(BAP1):c.1555C>T (p.Pro519Ser) rs759622893 0.00001
NM_004656.4(BAP1):c.1790G>T (p.Ser597Ile) rs556046793 0.00001
NM_004859.4(CLTC):c.2292G>A (p.Lys764=) rs1451901038 0.00001
NM_004972.4(JAK2):c.980G>T (p.Ser327Ile) rs769401778 0.00001
NM_005027.4(PIK3R2):c.2073G>T (p.Glu691Asp) rs781383839 0.00001
NM_005214.5(CTLA4):c.265T>C (p.Tyr89His) rs1403336336 0.00001
NM_005228.5(EGFR):c.19G>C (p.Ala7Pro) rs761183109 0.00001
NM_005228.5(EGFR):c.755G>A (p.Arg252His) rs760101437 0.00001
NM_005236.3(ERCC4):c.1655C>T (p.Thr552Ile) rs549865610 0.00001
NM_005236.3(ERCC4):c.1976G>A (p.Gly659Asp) rs756811179 0.00001
NM_005236.3(ERCC4):c.2238C>G (p.Ile746Met) rs1258424638 0.00001
NM_005359.6(SMAD4):c.566G>A (p.Arg189His) rs759288477 0.00001
NM_005431.2(XRCC2):c.817G>A (p.Gly273Arg) rs1292317353 0.00001
NM_005591.4(MRE11):c.1074A>G (p.Pro358=) rs876659934 0.00001
NM_005660.3(SLC35A2):c.92-7C>G rs1557043678 0.00001
NM_005732.4(RAD50):c.2563G>T (p.Asp855Tyr) rs144911328 0.00001
NM_005732.4(RAD50):c.3929A>G (p.Asn1310Ser) rs753468016 0.00001
NM_005918.4(MDH2):c.226G>A (p.Ala76Thr) rs375592605 0.00001
NM_005956.4(MTHFD1):c.24C>A (p.Asn8Lys) rs1255014936 0.00001
NM_006164.5(NFE2L2):c.304T>C (p.Tyr102His) rs1349376322 0.00001
NM_006231.4(POLE):c.2182C>T (p.Arg728Trp) rs1020252487 0.00001
NM_006231.4(POLE):c.3122G>A (p.Arg1041Gln) rs774645622 0.00001
NM_006231.4(POLE):c.3406C>T (p.Arg1136Trp) rs531475854 0.00001
NM_006231.4(POLE):c.4646C>G (p.Pro1549Arg) rs577952179 0.00001
NM_006231.4(POLE):c.5989C>T (p.Leu1997Phe) rs1593711868 0.00001
NM_006361.6(HOXB13):c.356A>T (p.Glu119Val) rs1383196644 0.00001
NM_006514.4(SCN10A):c.5186C>T (p.Thr1729Met) rs751384151 0.00001
NM_006593.4(TBR1):c.231C>A (p.Asp77Glu) rs1277497351 0.00001
NM_006767.4(LZTR1):c.1001G>C (p.Gly334Ala) rs777494767 0.00001
NM_006912.6(RIT1):c.575C>T (p.Ala192Val) rs376391961 0.00001
NM_006941.4(SOX10):c.778G>A (p.Gly260Arg) rs367743809 0.00001
NM_007194.4(CHEK2):c.335A>G (p.Asn112Ser) rs876660788 0.00001
NM_007194.4(CHEK2):c.434G>A (p.Arg145Gln) rs587781667 0.00001
NM_007194.4(CHEK2):c.507T>G (p.Phe169Leu) rs876659233 0.00001
NM_007194.4(CHEK2):c.73G>A (p.Val25Ile) rs142243299 0.00001
NM_007194.4(CHEK2):c.846+3A>G rs1476026799 0.00001
NM_007194.4(CHEK2):c.8G>A (p.Arg3Gln) rs779607427 0.00001
NM_007272.3(CTRC):c.752T>C (p.Val251Ala) rs1175956798 0.00001
NM_007294.4(BRCA1):c.135-18T>G rs80358085 0.00001
NM_007294.4(BRCA1):c.1510C>T (p.Arg504Cys) rs80357445 0.00001
NM_007294.4(BRCA1):c.2231C>T (p.Ala744Val) rs786204220 0.00001
NM_012200.4(B3GAT3):c.743C>G (p.Pro248Arg) rs751979169 0.00001
NM_014239.4(EIF2B2):c.165G>A (p.Gly55=) rs1365390122 0.00001
NM_014516.4(CNOT3):c.602G>A (p.Arg201His) rs1293538013 0.00001
NM_014727.3(KMT2B):c.5908C>A (p.Pro1970Thr) rs991657581 0.00001
NM_014780.5(CUL7):c.-182G>C rs899663211 0.00001
NM_015271.5(TRIM2):c.282C>T (p.Ser94=) rs1190110289 0.00001
NM_015331.3(NCSTN):c.1393G>A (p.Val465Met) rs200757075 0.00001
NM_015340.4(LARS2):c.2546C>G (p.Ala849Gly) rs200160782 0.00001
NM_015559.3(SETBP1):c.44G>A (p.Gly15Asp) rs551453904 0.00001
NM_015570.4(AUTS2):c.2819C>T (p.Pro940Leu) rs764683823 0.00001
NM_015697.9(COQ2):c.103T>G (p.Cys35Gly) rs1399982229 0.00001
NM_016169.4(SUFU):c.1015C>T (p.Arg339Trp) rs773037813 0.00001
NM_016169.4(SUFU):c.26C>T (p.Ala9Val) rs775491374 0.00001
NM_016169.4(SUFU):c.979A>G (p.Ile327Val) rs752846043 0.00001
NM_017617.5(NOTCH1):c.3190G>A (p.Asp1064Asn) rs375931404 0.00001
NM_017763.6(RNF43):c.1171C>T (p.Pro391Ser) rs758746256 0.00001
NM_017763.6(RNF43):c.505G>A (p.Ala169Thr) rs779337229 0.00001
NM_017841.4(SDHAF2):c.194C>T (p.Thr65Ile) rs752462796 0.00001
NM_018127.7(ELAC2):c.1808+15C>T rs930358086 0.00001
NM_018263.6(ASXL2):c.2990A>G (p.Asn997Ser) rs753665572 0.00001
NM_019109.5(ALG1):c.544G>A (p.Glu182Lys) rs781135914 0.00001
NM_020928.2(ZSWIM6):c.2324C>T (p.Thr775Ile) rs1561283194 0.00001
NM_020937.4(FANCM):c.1072G>A (p.Glu358Lys) rs746643140 0.00001
NM_020937.4(FANCM):c.3587G>A (p.Arg1196His) rs751441742 0.00001
NM_020937.4(FANCM):c.4519G>A (p.Val1507Ile) rs945620719 0.00001
NM_020937.4(FANCM):c.4847G>A (p.Gly1616Asp) rs1232508556 0.00001
NM_020937.4(FANCM):c.5838G>C (p.Lys1946Asn) rs1060501893 0.00001
NM_020975.6(RET):c.1686C>T (p.Thr562=) rs767502292 0.00001
NM_020975.6(RET):c.18C>T (p.Ser6=) rs1185431356 0.00001
NM_020975.6(RET):c.322A>C (p.Lys108Gln) rs567877611 0.00001
NM_021930.6(RINT1):c.1621A>G (p.Asn541Asp) rs370831512 0.00001
NM_021930.6(RINT1):c.61G>A (p.Asp21Asn) rs758536777 0.00001
NM_022124.6(CDH23):c.1234C>T (p.Arg412Cys) rs374419277 0.00001
NM_022455.5(NSD1):c.3056G>A (p.Arg1019His) rs750354456 0.00001
NM_022455.5(NSD1):c.34T>C (p.Cys12Arg) rs143406017 0.00001
NM_022455.5(NSD1):c.7072G>C (p.Asp2358His) rs144023511 0.00001
NM_022725.4(FANCF):c.466A>G (p.Asn156Asp) rs370979205 0.00001
NM_024411.5(PDYN):c.146G>A (p.Cys49Tyr) rs768892914 0.00001
NM_024426.6(WT1):c.620T>G (p.Leu207Arg) rs1258754686 0.00001
NM_024642.5(GALNT12):c.634C>T (p.Arg212Trp) rs371040665 0.00001
NM_024675.4(PALB2):c.1610C>T (p.Ser537Leu) rs142103232 0.00001
NM_024675.4(PALB2):c.1960A>G (p.Ile654Val) rs749842477 0.00001
NM_024675.4(PALB2):c.2922G>T (p.Lys974Asn) rs730881892 0.00001
NM_024675.4(PALB2):c.315G>C (p.Glu105Asp) rs515726108 0.00001
NM_024675.4(PALB2):c.3331C>G (p.Pro1111Ala) rs864622193 0.00001
NM_024675.4(PALB2):c.902A>G (p.Asp301Gly) rs759014440 0.00001
NM_032043.3(BRIP1):c.254C>T (p.Ser85Leu) rs587781830 0.00001
NM_032043.3(BRIP1):c.2979C>G (p.Phe993Leu) rs1060501756 0.00001
NM_032043.3(BRIP1):c.3260A>G (p.Asn1087Ser) rs786202024 0.00001
NM_032043.3(BRIP1):c.3507C>A (p.Asp1169Glu) rs375741316 0.00001
NM_032043.3(BRIP1):c.679C>G (p.Gln227Glu) rs45459799 0.00001
NM_032444.4(SLX4):c.2245C>T (p.Arg749Cys) rs753926402 0.00001
NM_032444.4(SLX4):c.2892C>G (p.Asp964Glu) rs1311904834 0.00001
NM_032444.4(SLX4):c.3721C>T (p.Arg1241Cys) rs771835799 0.00001
NM_032444.4(SLX4):c.4130C>T (p.Ser1377Leu) rs770241338 0.00001
NM_032444.4(SLX4):c.4663C>A (p.Pro1555Thr) rs746870470 0.00001
NM_032444.4(SLX4):c.5144G>A (p.Ser1715Asn) rs754498907 0.00001
NM_032444.4(SLX4):c.703G>C (p.Ala235Pro) rs754917250 0.00001
NM_032444.4(SLX4):c.941A>G (p.His314Arg) rs1274906202 0.00001
NM_032977.4(CASP10):c.1159C>G (p.Pro387Ala) rs759782468 0.00001
NM_033004.4(NLRP1):c.3820C>T (p.Arg1274Ter) rs866926418 0.00001
NM_033305.3(VPS13A):c.7795A>G (p.Thr2599Ala) rs1321712506 0.00001
NM_052867.4(NALCN):c.3263G>A (p.Arg1088His) rs766948695 0.00001
NM_058216.3(RAD51C):c.233C>T (p.Thr78Ile) rs112832782 0.00001
NM_058216.3(RAD51C):c.578G>A (p.Arg193Gln) rs587782332 0.00001
NM_058216.3(RAD51C):c.622A>G (p.Ile208Val) rs771078849 0.00001
NM_058216.3(RAD51C):c.748C>T (p.His250Tyr) rs531540031 0.00001
NM_058216.3(RAD51C):c.779G>A (p.Arg260Gln) rs730881926 0.00001
NM_078480.3(PUF60):c.71C>T (p.Ala24Val) rs760947547 0.00001
NM_130839.5(UBE3A):c.176G>A (p.Arg59His) rs587784511 0.00001
NM_139125.4(MASP1):c.937G>A (p.Glu313Lys) rs1295781579 0.00001
NM_144997.7(FLCN):c.1168G>A (p.Val390Ile) rs991762823 0.00001
NM_144997.7(FLCN):c.1635C>G (p.Asp545Glu) rs760329266 0.00001
NM_144997.7(FLCN):c.1732C>T (p.Arg578Trp) rs775107483 0.00001
NM_152564.5(VPS13B):c.4763G>T (p.Gly1588Val) rs760057249 0.00001
NM_152641.4(ARID2):c.1122C>T (p.Gly374=) rs778844463 0.00001
NM_177438.3(DICER1):c.2496G>C (p.Lys832Asn) rs769292296 0.00001
NM_177438.3(DICER1):c.4093C>A (p.Leu1365Ile) rs1250570322 0.00001
NM_177438.3(DICER1):c.5552G>A (p.Arg1851His) rs1426678586 0.00001
NM_177438.3(DICER1):c.559C>A (p.Arg187=) rs763801533 0.00001
NM_177438.3(DICER1):c.70A>G (p.Met24Val) rs754439528 0.00001
NM_182919.4(TICAM1):c.2050G>A (p.Ala684Thr) rs376421303 0.00001
NM_194277.3(FRMD7):c.1402C>T (p.Arg468Cys) rs765439361 0.00001
NM_205836.3(FBXO38):c.1296C>T (p.Ile432=) rs780971684 0.00001
NM_207361.6(FREM2):c.3086C>T (p.Ala1029Val) rs200459256 0.00001
NC_000009.12:g.83967562A>G
NM_000038.6(APC):c.1075C>T (p.Leu359Phe) rs2149780791
NM_000038.6(APC):c.1426G>T (p.Ala476Ser) rs786203723
NM_000038.6(APC):c.1486A>C (p.Thr496Pro) rs1179505662
NM_000038.6(APC):c.2419GAT[1] (p.Asp808del) rs587781469
NM_000038.6(APC):c.2480A>G (p.Asn827Ser) rs1580622781
NM_000038.6(APC):c.2494C>G (p.Pro832Ala) rs1554084213
NM_000038.6(APC):c.3005C>G (p.Ala1002Gly) rs765076015
NM_000038.6(APC):c.3165A>G (p.Ile1055Met) rs61734287
NM_000038.6(APC):c.3616A>T (p.Ser1206Cys) rs901866497
NM_000038.6(APC):c.3950A>G (p.Glu1317Gly) rs2149902681
NM_000038.6(APC):c.5266TCT[2] (p.Ser1758del) rs780061589
NM_000038.6(APC):c.5507G>C (p.Gly1836Ala) rs1363066852
NM_000038.6(APC):c.5534A>G (p.His1845Arg) rs2149942629
NM_000038.6(APC):c.6248T>C (p.Ile2083Thr) rs758715972
NM_000038.6(APC):c.6354TGC[5] (p.Ala2122dup) rs587780602
NM_000038.6(APC):c.6473C>A (p.Pro2158His) rs587779804
NM_000038.6(APC):c.6764C>T (p.Thr2255Ile)
NM_000038.6(APC):c.6907G>A (p.Gly2303Arg) rs544549596
NM_000038.6(APC):c.6944A>G (p.Gln2315Arg) rs1060503273
NM_000038.6(APC):c.7583T>C (p.Ile2528Thr) rs730881264
NM_000038.6(APC):c.7858T>A (p.Phe2620Ile) rs587781816
NM_000038.6(APC):c.7892C>T (p.Ser2631Phe) rs730881269
NM_000038.6(APC):c.820T>G (p.Ser274Ala) rs1760808608
NM_000051.4(ATM):c.1802G>C (p.Ser601Thr) rs763402339
NM_000051.4(ATM):c.2147T>C (p.Val716Ala) rs864622294
NM_000051.4(ATM):c.3275C>T (p.Ser1092Leu) rs774197372
NM_000051.4(ATM):c.3293A>G (p.Gln1098Arg) rs1060501590
NM_000051.4(ATM):c.3530G>C (p.Cys1177Ser) rs587782470
NM_000051.4(ATM):c.3611G>A (p.Arg1204Lys) rs786203066
NM_000051.4(ATM):c.3637C>T (p.His1213Tyr) rs1064793387
NM_000051.4(ATM):c.4196C>G (p.Thr1399Ser) rs786203761
NM_000051.4(ATM):c.4236+2_4236+3insCT rs1185729358
NM_000051.4(ATM):c.483G>C (p.Gln161His) rs864622742
NM_000051.4(ATM):c.4909G>A (p.Asp1637Asn) rs753870656
NM_000051.4(ATM):c.5675-7_5675-4del rs1189695629
NM_000051.4(ATM):c.5956A>G (p.Ile1986Val) rs876660935
NM_000051.4(ATM):c.6283_6288del (p.Leu2095_Glu2096del) rs1565503206
NM_000051.4(ATM):c.6583C>T (p.His2195Tyr) rs780946471
NM_000051.4(ATM):c.6860G>A (p.Gly2287Glu) rs1800061
NM_000051.4(ATM):c.7421T>C (p.Leu2474Ser) rs2136458920
NM_000051.4(ATM):c.8763G>A (p.Thr2921=) rs781528244
NM_000057.4(BLM):c.1195G>C (p.Glu399Gln) rs538728271
NM_000057.4(BLM):c.2326C>G (p.Leu776Val) rs1483824560
NM_000057.4(BLM):c.3238G>A (p.Asp1080Asn) rs771767745
NM_000059.4(BRCA2):c.1009A>G (p.Asn337Asp) rs2137466790
NM_000059.4(BRCA2):c.1033A>G (p.Lys345Glu) rs80358406
NM_000059.4(BRCA2):c.1535C>G (p.Pro512Arg) rs1184226464
NM_000059.4(BRCA2):c.1744A>G (p.Thr582Ala) rs80358457
NM_000059.4(BRCA2):c.2803G>C (p.Asp935His) rs28897716
NM_000059.4(BRCA2):c.3002C>T (p.Ser1001Leu) rs1555283001
NM_000059.4(BRCA2):c.3497T>C (p.Val1166Ala) rs762886975
NM_000059.4(BRCA2):c.3662C>A (p.Ser1221Tyr) rs397507313
NM_000059.4(BRCA2):c.397C>A (p.Pro133Thr) rs571823764
NM_000059.4(BRCA2):c.4068G>T (p.Leu1356Phe) rs28897724
NM_000059.4(BRCA2):c.4928T>C (p.Val1643Ala) rs28897731
NM_000059.4(BRCA2):c.520C>T (p.Arg174Cys) rs41293469
NM_000059.4(BRCA2):c.5285A>C (p.Tyr1762Ser) rs80358753
NM_000059.4(BRCA2):c.5449T>C (p.Ser1817Pro) rs876658566
NM_000059.4(BRCA2):c.5492T>C (p.Ile1831Thr) rs587782007
NM_000059.4(BRCA2):c.6215C>T (p.Ser2072Phe) rs80358862
NM_000059.4(BRCA2):c.68-8_68-7insG rs2138703461
NM_000059.4(BRCA2):c.7436-17T>G rs81002829
NM_000059.4(BRCA2):c.8115C>G (p.Ser2705Arg) rs587781889
NM_000059.4(BRCA2):c.8181_8189del (p.Val2728_Ala2730del) rs786203465
NM_000059.4(BRCA2):c.8411C>T (p.Pro2804Leu) rs876658705
NM_000059.4(BRCA2):c.8633-4T>A rs397507407
NM_000059.4(BRCA2):c.865A>G (p.Asn289Asp) rs766173
NM_000059.4(BRCA2):c.8775G>C (p.Gln2925His) rs80359136
NM_000059.4(BRCA2):c.8941G>A (p.Glu2981Lys) rs139052578
NM_000059.4(BRCA2):c.9458G>T (p.Gly3153Val) rs80359220
NM_000059.4(BRCA2):c.9502-9T>C rs372042471
NM_000059.4(BRCA2):c.9649-6dup rs276174929
NM_000059.4(BRCA2):c.9880G>A (p.Ala3294Thr) rs2137664647
NM_000075.4(CDK4):c.572A>G (p.Tyr191Cys) rs1955226587
NM_000075.4(CDK4):c.719G>C (p.Arg240Pro) rs531817742
NM_000077.5(CDKN2A):c.150+196G>A rs2131109431
NM_000077.5(CDKN2A):c.170C>T (p.Ala57Val) rs372266620
NM_000077.5(CDKN2A):c.80A>C (p.Glu27Ala) rs1554656403
NM_000079.4(CHRNA1):c.235-270G>T
NM_000094.4(COL7A1):c.3746T>C (p.Val1249Ala)
NM_000094.4(COL7A1):c.6573G>A (p.Pro2191=)
NM_000107.3(DDB2):c.254C>A (p.Ser85Tyr) rs770922074
NM_000107.3(DDB2):c.694G>A (p.Gly232Ser) rs774675310
NM_000122.2(ERCC3):c.1015G>T (p.Val339Phe) rs1558961958
NM_000122.2(ERCC3):c.1130A>T (p.Gln377Leu) rs1685090557
NM_000122.2(ERCC3):c.1291A>C (p.Lys431Gln) rs1573957226
NM_000122.2(ERCC3):c.1559G>A (p.Arg520Gln) rs1034515602
NM_000122.2(ERCC3):c.1895C>T (p.Ser632Phe) rs1393523547
NM_000122.2(ERCC3):c.500A>G (p.Lys167Arg) rs2104777473
NM_000123.4(ERCC5):c.1798G>C (p.Val600Leu) rs1199408635
NM_000123.4(ERCC5):c.2315G>T (p.Ser772Ile) rs2140532076
NM_000123.4(ERCC5):c.2705A>T (p.Asn902Ile) rs2140538691
NM_000123.4(ERCC5):c.3404A>T (p.Glu1135Val) rs760395162
NM_000123.4(ERCC5):c.62C>G (p.Ala21Gly) rs2140511625
NM_000123.4(ERCC5):c.78C>G (p.Ile26Met) rs766329524
NM_000127.3(EXT1):c.1642A>C (p.Ser548Arg) rs780189656
NM_000127.3(EXT1):c.428T>C (p.Phe143Ser) rs1188458258
NM_000127.3(EXT1):c.517A>G (p.Asn173Asp) rs1448140995
NM_000135.4(FANCA):c.1511G>A (p.Arg504His) rs778045457
NM_000135.4(FANCA):c.1609G>T (p.Ala537Ser) rs2143458979
NM_000135.4(FANCA):c.1749C>G (p.Phe583Leu) rs2039611242
NM_000135.4(FANCA):c.1817C>G (p.Ser606Cys) rs2143422330
NM_000135.4(FANCA):c.2247C>G (p.Phe749Leu) rs772842754
NM_000135.4(FANCA):c.2410G>T (p.Gly804Cys) rs2039264268
NM_000135.4(FANCA):c.3007A>T (p.Asn1003Tyr) rs1168739564
NM_000135.4(FANCA):c.3652C>A (p.Pro1218Thr) rs1555535564
NM_000135.4(FANCA):c.3901T>A (p.Ser1301Thr) rs765162125
NM_000135.4(FANCA):c.3961C>A (p.Arg1321Ser) rs755375493
NM_000135.4(FANCA):c.4053G>C (p.Glu1351Asp) rs1477796994
NM_000135.4(FANCA):c.4118C>A (p.Thr1373Lys) rs1277481284
NM_000135.4(FANCA):c.4148G>T (p.Ser1383Ile) rs774175580
NM_000135.4(FANCA):c.4192A>G (p.Lys1398Glu) rs2151710869
NM_000135.4(FANCA):c.4319del (p.Gln1440fs) rs2151709763
NM_000135.4(FANCA):c.523-19GTTTT[2] rs755643283
NM_000135.4(FANCA):c.911G>A (p.Gly304Glu) rs745451374
NM_000136.3(FANCC):c.14C>T (p.Ser5Leu) rs1831182314
NM_000136.3(FANCC):c.23T>C (p.Leu8Pro) rs752249253
NM_000136.3(FANCC):c.817G>C (p.Glu273Gln) rs143181565
NM_000138.5(FBN1):c.1862G>A (p.Gly621Glu) rs1555399833
NM_000138.5(FBN1):c.6370T>C (p.Ser2124Pro)
NM_000138.5(FBN1):c.64A>G (p.Ser22Gly) rs2140787724
NM_000138.5(FBN1):c.7259A>G (p.Asn2420Ser) rs2141226971
NM_000142.5(FGFR3):c.1959+6C>T rs1227316073
NM_000143.4(FH):c.1421C>T (p.Thr474Ile) rs369802820
NM_000143.4(FH):c.166A>G (p.Thr56Ala) rs1232573732
NM_000146.4(FTL):c.143T>G (p.Val48Gly) rs2122431802
NM_000153.4(GALC):c.1468T>G (p.Tyr490Asp)
NM_000163.5(GHR):c.289G>A (p.Glu97Lys)
NM_000179.3(MSH6):c.1648T>G (p.Ser550Ala) rs1558662428
NM_000179.3(MSH6):c.1997C>G (p.Ser666Cys) rs760494271
NM_000179.3(MSH6):c.2069A>G (p.Tyr690Cys) rs730881794
NM_000179.3(MSH6):c.2110G>T (p.Ala704Ser) rs2104389274
NM_000179.3(MSH6):c.2294G>C (p.Cys765Ser) rs1553413671
NM_000179.3(MSH6):c.235T>C (p.Ser79Pro) rs876660300
NM_000179.3(MSH6):c.3260C>A (p.Pro1087His) rs63750753
NM_000179.3(MSH6):c.3533G>A (p.Gly1178Asp) rs772380953
NM_000179.3(MSH6):c.3553T>G (p.Ser1185Ala) rs786202777
NM_000179.3(MSH6):c.3739A>G (p.Thr1247Ala) rs769360577
NM_000179.3(MSH6):c.3758T>A (p.Val1253Glu) rs202066386
NM_000179.3(MSH6):c.3921T>G (p.Asn1307Lys) rs876659660
NM_000179.3(MSH6):c.866G>C (p.Gly289Ala) rs368318845
NM_000186.4(CFH):c.2156G>T (p.Cys719Phe)
NM_000186.4(CFH):c.2783-3del rs748791414
NM_000188.3(HK1):c.1739C>T (p.Ser580Phe)
NM_000202.8(IDS):c.465_467delinsACA (p.Phe155_Pro156delinsLeuGln)
NM_000202.8(IDS):c.536A>G (p.His179Arg)
NM_000214.3(JAG1):c.3230T>G (p.Leu1077Ter)
NM_000218.3(KCNQ1):c.1793A>G (p.Lys598Arg) rs199472817
NM_000222.3(KIT):c.148G>T (p.Val50Leu) rs200950545
NM_000222.3(KIT):c.2270T>A (p.Met757Lys) rs1264359120
NM_000222.3(KIT):c.916G>C (p.Glu306Gln) rs753258292
NM_000240.4(MAOA):c.710A>T (p.Gln237Leu) rs2033878817
NM_000245.4(MET):c.1051C>G (p.Pro351Ala) rs587782807
NM_000245.4(MET):c.1912A>T (p.Ile638Leu) rs1060503536
NM_000245.4(MET):c.2392A>T (p.Ile798Leu) rs1794459560
NM_000245.4(MET):c.34C>A (p.Leu12Ile) rs764455004
NM_000245.4(MET):c.3601G>A (p.Val1201Ile) rs778646229
NM_000245.4(MET):c.589G>A (p.Val197Ile) rs2116592694
NM_000249.4(MLH1):c.1209C>G (p.Pro403=) rs1575535878
NM_000249.4(MLH1):c.1268G>A (p.Arg423Lys) rs370687064
NM_000249.4(MLH1):c.400A>G (p.Lys134Glu) rs1060500710
NM_000249.4(MLH1):c.453G>T (p.Thr151=) rs369521379
NM_000249.4(MLH1):c.551C>T (p.Ser184Leu) rs1064796057
NM_000249.4(MLH1):c.953A>G (p.His318Arg) rs1559543995
NM_000251.3(MSH2):c.1276+23del rs587779081
NM_000251.3(MSH2):c.1589A>C (p.Glu530Ala) rs1666901220
NM_000264.5(PTCH1):c.-6_-5del rs2118911034
NM_000264.5(PTCH1):c.1903G>A (p.Asp635Asn) rs372555269
NM_000264.5(PTCH1):c.2395T>G (p.Ser799Ala)
NM_000264.5(PTCH1):c.2562A>G (p.Gly854=) rs751613059
NM_000264.5(PTCH1):c.4168G>C (p.Gly1390Arg) rs1239904766
NM_000291.4(PGK1):c.141C>G (p.Ile47Met) rs2149132065
NM_000291.4(PGK1):c.148T>G (p.Cys50Gly) rs2149132074
NM_000292.3(PHKA2):c.1460G>A (p.Gly487Glu) rs2147916105
NM_000314.8(PTEN):c.563A>G (p.Tyr188Cys) rs2132269501
NM_000314.8(PTEN):c.838A>G (p.Ile280Val) rs1474354667
NM_000321.3(RB1):c.2211+3A>G rs2138342752
NM_000350.3(ABCA4):c.67-2830C>T
NM_000350.3(ABCA4):c.769-5431G>A
NM_000368.5(TSC1):c.1327G>A (p.Gly443Arg) rs760470520
NM_000368.5(TSC1):c.2086C>A (p.Leu696Ile) rs1845506304
NM_000368.5(TSC1):c.3107G>A (p.Gly1036Glu) rs774196458
NM_000368.5(TSC1):c.59G>A (p.Gly20Asp) rs2132295150
NM_000368.5(TSC1):c.738-1252G>A
NM_000370.3(TTPA):c.254C>G (p.Ala85Gly) rs1805507111
NM_000380.4(XPA):c.110T>A (p.Met37Lys) rs1479271208
NM_000380.4(XPA):c.460G>C (p.Asp154His) rs1477700804
NM_000380.4(XPA):c.651G>T (p.Lys217Asn) rs1256499901
NM_000381.4(MID1):c.862A>G (p.Lys288Glu) rs2147321391
NM_000384.3(APOB):c.10672C>T (p.Arg3558Cys)
NM_000388.4(CASR):c.1534A>G (p.Asn512Asp) rs1576870447
NM_000388.4(CASR):c.325G>A (p.Glu109Lys) rs868732014
NM_000388.4(CASR):c.725T>C (p.Leu242Pro) rs1064794676
NM_000393.5(COL5A2):c.3226G>C (p.Ala1076Pro) rs2153507378
NM_000400.4(ERCC2):c.-12C>G rs2123321667
NM_000400.4(ERCC2):c.1027C>T (p.Arg343Trp) rs1243536822
NM_000400.4(ERCC2):c.2191-11G>A rs1568530396
NM_000400.4(ERCC2):c.5+39C>G rs1182686810
NM_000400.4(ERCC2):c.718+5G>T rs747364527
NM_000400.4(ERCC2):c.749A>C (p.Asn250Thr) rs753889198
NM_000400.4(ERCC2):c.832G>A (p.Glu278Lys) rs1972333258
NM_000421.5(KRT10):c.1681_1683dup (p.Ser563dup) rs1555548360
NM_000431.4(MVK):c.719C>G (p.Pro240Arg) rs1458254066
NM_000439.5(PCSK1):c.2053C>T (p.Pro685Ser) rs1760012407
NM_000465.4(BARD1):c.1231C>T (p.Pro411Ser) rs786203825
NM_000465.4(BARD1):c.1314+5G>T rs868089048
NM_000465.4(BARD1):c.136A>G (p.Lys46Glu) rs1426560516
NM_000465.4(BARD1):c.1603G>C (p.Asp535His) rs1693505731
NM_000465.4(BARD1):c.2150T>A (p.Ile717Asn) rs876658526
NM_000465.4(BARD1):c.2216A>G (p.Tyr739Cys) rs777013688
NM_000486.6(AQP2):c.298G>A (p.Gly100Arg) rs1303076207
NM_000487.6(ARSA):c.854+82G>A
NM_000492.4(CFTR):c.1251C>A (p.Asn417Lys) rs4727853
NM_000532.5(PCCB):c.579T>G (p.Ile193Met) rs2108181900
NM_000533.5(PLP1):c.91C>G (p.Leu31Val) rs1391989749
NM_000535.7(PMS2):c.1072T>A (p.Ser358Thr) rs767755376
NM_000535.7(PMS2):c.1358T>C (p.Met453Thr) rs1060503130
NM_000535.7(PMS2):c.2153T>C (p.Leu718Pro) rs755117943
NM_000535.7(PMS2):c.215G>C (p.Gly72Ala) rs730881915
NM_000535.7(PMS2):c.2266G>A (p.Asp756Asn) rs762206330
NM_000535.7(PMS2):c.376C>G (p.His126Asp) rs774135207
NM_000540.3(RYR1):c.9412C>A (p.Pro3138Thr) rs2145663479
NM_000543.5(SMPD1):c.106_107insCGCTGG (p.Leu35_Val36insAlaLeu) rs1554933800
NM_000546.6(TP53):c.335G>A (p.Gly112Asp) rs1390502714
NM_000546.6(TP53):c.661G>A (p.Glu221Lys) rs786201592
NM_000546.6(TP53):c.710T>C (p.Met237Thr) rs765848205
NM_000548.5(TSC2):c.1258-8T>G rs1175574879
NM_000548.5(TSC2):c.1577G>A (p.Ser526Asn) rs376573446
NM_000548.5(TSC2):c.1716+263G>A
NM_000548.5(TSC2):c.2728C>T (p.Pro910Ser) rs1319146226
NM_000548.5(TSC2):c.3205G>C (p.Val1069Leu) rs2151438862
NM_000548.5(TSC2):c.3358G>C (p.Val1120Leu) rs1053311636
NM_000548.5(TSC2):c.4409G>A (p.Arg1470His) rs1060500969
NM_000548.5(TSC2):c.4678G>A (p.Ala1560Thr) rs777539610
NM_000548.5(TSC2):c.648+20A>G rs2151071929
NM_000548.5(TSC2):c.670G>A (p.Ala224Thr) rs772558666
NM_000548.5(TSC2):c.929A>G (p.Tyr310Cys) rs878854122
NM_000551.4(VHL):c.134C>T (p.Pro45Leu) rs199583685
NM_000553.6(WRN):c.1882C>A (p.Leu628Ile) rs77969734
NM_000553.6(WRN):c.2431G>T (p.Val811Leu) rs1563361058
NM_000553.6(WRN):c.997A>G (p.Ile333Val) rs2130118767
NM_000587.4(C7):c.1561C>A (p.Arg521Ser) rs121964920
NM_000639.3(FASLG):c.220A>G (p.Arg74Gly)
NM_000702.4(ATP1A2):c.2998G>A (p.Glu1000Lys) rs2101998802
NM_000780.4(CYP7A1):c.224A>G (p.Tyr75Cys)
NM_000791.4(DHFR):c.-406CGCTGCAGC[3] rs758595508
NM_000791.4(DHFR):c.-425_-399del rs777564333
NM_000807.4(GABRA2):c.1162T>G (p.Ser388Ala)
NM_000829.4(GRIA4):c.311_314del (p.His104fs) rs2135694894
NM_000836.4(GRIN2D):c.3035G>C (p.Arg1012Pro) rs1447126523
NM_000836.4(GRIN2D):c.860C>T (p.Ala287Val) rs2147441889
NM_000890.5(KCNJ5):c.303G>T (p.Trp101Cys)
NM_000937.5(POLR2A):c.2573-3C>G
NM_000939.4(POMC):c.297_298insA (p.Ala100fs) rs1553400131
NM_001001331.4(ATP2B2):c.1829G>C (p.Ser610Thr)
NM_001003800.2(BICD2):c.2109G>A (p.Thr703=)
NM_001003800.2(BICD2):c.301G>A (p.Glu101Lys) rs1554706635
NM_001005498.4(RHBDF2):c.617G>A (p.Arg206His) rs145040227
NM_001008537.3(NEXMIF):c.4165A>G (p.Thr1389Ala) rs2147438917
NM_001008537.3(NEXMIF):c.644G>A (p.Gly215Glu) rs2147441499
NM_001009944.3(PKD1):c.12461G>A (p.Arg4154His)
NM_001018113.3(FANCB):c.1197+19_1197+21del rs755825913
NM_001018113.3(FANCB):c.164A>G (p.Lys55Arg) rs2147447724
NM_001018115.3(FANCD2):c.1223G>A (p.Arg408Gln) rs370522983
NM_001018115.3(FANCD2):c.1436C>T (p.Thr479Ile) rs1346254097
NM_001018115.3(FANCD2):c.1947+11T>C rs1228654611
NM_001018115.3(FANCD2):c.2022-5C>T rs4019784
NM_001018115.3(FANCD2):c.2969T>G (p.Phe990Cys) rs2125054753
NM_001018115.3(FANCD2):c.985G>C (p.Ala329Pro) rs765666007
NM_001020658.2(PUM1):c.1025_1039del (p.Ser342_Pro346del)
NM_001020658.2(PUM1):c.782T>G (p.Phe261Cys) rs1364340022
NM_001029896.2(WDR45):c.38G>T (p.Arg13Leu) rs201177026
NM_001032221.6(STXBP1):c.980T>C (p.Leu327Pro)
NM_001034116.2(EIF2B4):c.904G>A (p.Ala302Thr) rs1681924715
NM_001035.3(RYR2):c.11635C>G (p.Leu3879Val)
NM_001035.3(RYR2):c.2510G>C (p.Ser837Thr) rs375607964
NM_001039141.3(TRIOBP):c.6106C>G (p.Leu2036Val) rs2145870507
NM_001039396.2(MPEG1):c.388del (p.Ser130fs)
NM_001040108.2(MLH3):c.2299C>T (p.Pro767Ser) rs2139565569
NM_001040142.2(SCN2A):c.235G>C (p.Glu79Gln) rs1402926276
NM_001042492.3(NF1):c.1371C>A (p.His457Gln) rs1318894606
NM_001042492.3(NF1):c.1498_1500del (p.Ile500del) rs2143960261
NM_001042492.3(NF1):c.1602_1603del (p.Gln535fs) rs2143986796
NM_001042492.3(NF1):c.3296A>C (p.Lys1099Thr) rs2151433877
NM_001042492.3(NF1):c.4058C>T (p.Ser1353Phe) rs1555617346
NM_001042492.3(NF1):c.4103T>C (p.Leu1368Ser) rs1597735265
NM_001042492.3(NF1):c.4333-230A>G
NM_001042492.3(NF1):c.4724+1102A>C
NM_001042492.3(NF1):c.5260T>C (p.Ser1754Pro)
NM_001042492.3(NF1):c.563C>A (p.Ala188Glu) rs1060500309
NM_001042492.3(NF1):c.5812+4A>G
NM_001042492.3(NF1):c.60+29485G>A
NM_001042492.3(NF1):c.6571T>C (p.Ser2191Pro) rs754630324
NM_001042492.3(NF1):c.6820-6T>C rs1597845896
NM_001042492.3(NF1):c.7523A>T (p.Tyr2508Phe) rs762169098
NM_001046.3(SLC12A2):c.2263+1G>T
NM_001048166.1(STIL):c.2218A>G (p.Ile740Val) rs957455746
NM_001048174.2(MUTYH):c.142G>T (p.Val48Leu) rs1553130405
NM_001048174.2(MUTYH):c.378+11G>A rs1557482167
NM_001048174.2(MUTYH):c.652G>A (p.Val218Ile) rs587780749
NM_001048174.2(MUTYH):c.989T>A (p.Phe330Tyr) rs1553126738
NM_001079866.2(BCS1L):c.225G>A (p.Gln75=) rs2106322162
NM_001080414.4(CCDC88C):c.1078A>G (p.Ile360Val) rs1304700994
NM_001080414.4(CCDC88C):c.3007-13G>T rs752697569
NM_001080449.3(DNA2):c.1429A>T (p.Ser477Cys)
NM_001081.4(CUBN):c.9667T>C (p.Tyr3223His)
NM_001083619.3(GRIA2):c.1948A>G (p.Met650Val)
NM_001083962.2(TCF4):c.655+54C>T
NM_001083962.2(TCF4):c.715G>C (p.Ala239Pro) rs747361615
NM_001089.3(ABCA3):c.3070C>T (p.Leu1024Phe)
NM_001089.3(ABCA3):c.3762C>G (p.Asn1254Lys)
NM_001098175.2(ENTPD1):c.33G>A (p.Gln11=)
NM_001098175.2(ENTPD1):c.37+15668T>G
NM_001105247.2(ARMC5):c.2261T>C (p.Leu754Pro)
NM_001110556.2(FLNA):c.7933G>T (p.Val2645Leu) rs2148099554
NM_001111125.3(IQSEC2):c.3065G>A (p.Arg1022His)
NM_001112741.2(KCNC1):c.1274T>A (p.Val425Glu) rs1590106777
NM_001113378.2(FANCI):c.1273A>G (p.Ile425Val) rs775228768
NM_001113378.2(FANCI):c.1635G>T (p.Lys545Asn) rs2151580389
NM_001113378.2(FANCI):c.2462G>A (p.Ser821Asn) rs2151754448
NM_001113378.2(FANCI):c.2669C>T (p.Thr890Ile) rs1022708692
NM_001113378.2(FANCI):c.3537+3_3537+6del rs780264785
NM_001113378.2(FANCI):c.5A>T (p.Asp2Val) rs2151054413
NM_001127222.2(CACNA1A):c.6622C>G (p.Arg2208Gly)
NM_001127222.2(CACNA1A):c.784G>A (p.Asp262Asn)
NM_001128840.3(CACNA1D):c.3682G>C (p.Glu1228Gln) rs777098313
NM_001130144.3(LTBP3):c.3330G>T (p.Pro1110=)
NM_001130145.3(YAP1):c.1A>C (p.Met1Leu) rs2135083651
NM_001134407.3(GRIN2A):c.2357-3704C>G
NM_001134407.3(GRIN2A):c.414+29155A>T
NM_001134407.3(GRIN2A):c.481A>T (p.Ile161Phe) rs2141632802
NM_001136157.2(OTUD5):c.1543C>T (p.Arg515Trp)
NM_001145252.3(CFP):c.305G>A (p.Arg102Gln) rs2147937441
NM_001145263.2(NCOA4):c.39T>G (p.Asn13Lys)
NM_001145358.2(SIN3A):c.1177A>G (p.Thr393Ala)
NM_001145358.2(SIN3A):c.1477G>C (p.Glu493Gln) rs2141457863
NM_001151.4(SLC25A4):c.197G>A (p.Gly66Asp) rs2111285419
NM_001161352.2(KCNMA1):c.527C>G (p.Thr176Ser) rs2154465045
NM_001162501.2(TNRC6B):c.2212C>G (p.Pro738Ala)
NM_001165963.4(SCN1A):c.965-480T>C
NM_001170629.2(CHD8):c.656C>G (p.Ser219Cys) rs2139539399
NM_001173464.2(KIF21A):c.3968T>C (p.Ile1323Thr) rs2137384157
NM_001174147.2(LMX1B):c.587T>G (p.Met196Arg) rs1167579696
NM_001190274.2(FBXO11):c.149AGC[8] (p.Gln56dup) rs746953076
NM_001190737.2(NFIB):c.495G>T (p.Gln165His)
NM_001194.4(HCN2):c.1087G>A (p.Ala363Thr)
NM_001194.4(HCN2):c.137G>C (p.Gly46Ala) rs2144498932
NM_001205293.3(CACNA1E):c.3613-6C>G rs2102592786
NM_001211.6(BUB1B):c.1168GAG[1] (p.Glu391del) rs778590557
NM_001211.6(BUB1B):c.151T>C (p.Cys51Arg) rs375885859
NM_001242896.3(DEPDC5):c.3688A>G (p.Ile1230Val)
NM_001242896.3(DEPDC5):c.4621G>A (p.Glu1541Lys) rs2149449183
NM_001243133.2(NLRP3):c.1153T>G (p.Ser385Ala) rs199680838
NM_001244008.2(KIF1A):c.2721GGA[12] (p.Glu917dup) rs10594016
NM_001256789.3(CACNA1F):c.2068C>T (p.Leu690Phe) rs2147914032
NM_001256789.3(CACNA1F):c.4916T>C (p.Val1639Ala) rs2147894225
NM_001257281.2(DIS3L2):c.1651_1652insGGG (p.Glu550_Ala551insGly) rs141560952
NM_001270.4(CHD1):c.666AGA[1] (p.Glu223del)
NM_001270508.2(TNFAIP3):c.1853C>A (p.Pro618Gln) rs2114506262
NM_001278716.2(FBXL4):c.630T>G (p.Asn210Lys) rs939377900
NM_001278716.2(FBXL4):c.673C>G (p.Leu225Val) rs766767309
NM_001282531.3(ADNP):c.392C>T (p.Pro131Leu)
NM_001312909.2(FAM111A):c.281_290del (p.Leu94fs) rs759624749
NM_001313726.2(ANO3):c.46T>C (p.Phe16Leu)
NM_001318510.2(ACSL4):c.47G>T (p.Ser16Ile) rs2147450115
NM_001321075.3(DLG4):c.1141A>G (p.Asn381Asp)
NM_001322934.2(NFKB2):c.514C>T (p.Arg172Trp)
NM_001323289.2(CDKL5):c.239G>A (p.Arg80His) rs776025230
NM_001330078.2(NRXN1):c.1125del (p.Leu376fs) rs2104293931
NM_001330111.2(NAA38):c.-167+172C>G rs2151404063
NM_001330260.2(SCN8A):c.1064C>T (p.Thr355Ile) rs2138742443
NM_001330260.2(SCN8A):c.2726A>G (p.Asn909Ser)
NM_001330260.2(SCN8A):c.4115A>G (p.Asn1372Ser) rs2138904379
NM_001330260.2(SCN8A):c.5636C>A (p.Ser1879Tyr)
NM_001330288.2(SMARCC2):c.3361C>T (p.Pro1121Ser)
NM_001330360.2(POLA1):c.1392+11C>G rs2148361264
NM_001348716.2(KDM6B):c.4738-6C>T
NM_001348768.2(HECW2):c.51C>T (p.Pro17=) rs2125272542
NM_001354604.2(MITF):c.1486A>G (p.Thr496Ala) rs2107553278
NM_001365276.2(TNXB):c.2692C>G (p.Leu898Val)
NM_001365276.2(TNXB):c.7826-20A>G rs2151902163
NM_001365792.1(DAB1):c.1310C>T (p.Thr437Ile) rs1646379619
NM_001365951.3(KIF1B):c.1515-18T>G rs375149695
NM_001365951.3(KIF1B):c.2115+12G>C rs746838721
NM_001365951.3(KIF1B):c.3304G>A (p.Gly1102Arg) rs751916846
NM_001367721.1(CASK):c.282G>A (p.Met94Ile)
NM_001367916.1(MAGT1):c.175G>A (p.Asp59Asn) rs2149025191
NM_001368397.1(FRMPD4):c.2503G>A (p.Glu835Lys)
NM_001368397.1(FRMPD4):c.3721C>A (p.Pro1241Thr) rs142893483
NM_001370259.2(MEN1):c.1367G>A (p.Arg456His) rs372468697
NM_001370259.2(MEN1):c.1648G>C (p.Val550Leu) rs562257963
NM_001370259.2(MEN1):c.445+29C>T rs1421726469
NM_001370259.2(MEN1):c.740T>C (p.Ile247Thr) rs1043531053
NM_001370466.1(NOD2):c.2036G>A (p.Cys679Tyr)
NM_001370595.2(COA8):c.527C>G (p.Ala176Gly) rs529483936
NM_001371279.1(REEP1):c.793A>G (p.Arg265Gly) rs587781248
NM_001371623.1(TCOF1):c.3518-1G>A rs1204442859
NM_001371727.1(GABRB2):c.981C>A (p.Asn327Lys)
NM_001372.4(DNAH9):c.11749+8408G>A
NM_001372.4(DNAH9):c.2430T>C (p.Asn810=)
NM_001372.4(DNAH9):c.5814+2653C>A
NM_001372.4(DNAH9):c.7552+2378C>G
NM_001372076.1(PAX9):c.247G>T (p.Val83Leu)
NM_001372076.1(PAX9):c.28C>A (p.Gln10Lys)
NM_001375380.1(EBF3):c.554G>A (p.Arg185Lys) rs1554934855
NM_001375380.1(EBF3):c.961C>T (p.Pro321Ser)
NM_001376.5(DYNC1H1):c.13042A>C (p.Met4348Leu) rs879254327
NM_001376.5(DYNC1H1):c.574G>A (p.Gly192Arg) rs2141269693
NM_001377137.1(GBF1):c.73C>T (p.Arg25Ter)
NM_001378.3(DYNC1I2):c.511+1G>A rs2105604308
NM_001378120.1(MBD5):c.1855A>G (p.Thr619Ala)
NM_001378743.1(CYLD):c.2854A>T (p.Met952Leu) rs1238447051
NM_001378969.1(KCND3):c.1063C>T (p.Pro355Ser) rs2101994784
NM_001378969.1(KCND3):c.1313C>T (p.Ser438Leu) rs1172444288
NM_001379029.1(CERT1):c.1147C>G (p.Leu383Val) rs1338345260
NM_001379451.1(BCORL1):c.3071A>G (p.Asp1024Gly) rs2124454276
NM_001379659.1(ZNF142):c.3185G>T (p.Arg1062Leu) rs759050060
NM_001382241.1(TNPO2):c.648+3G>A
NM_001382567.1(STIM1):c.270+23215T>C
NM_001382567.1(STIM1):c.541A>G (p.Met181Val) rs2094314118
NM_001384125.1(BLTP1):c.1381-407del rs59492868
NM_001385875.1(ZFYVE27):c.897+18T>G rs2136253307
NM_001393769.1(MED12L):c.184A>G (p.Ile62Val)
NM_001394372.1(BICRA):c.4050ACC[2] (p.Pro1355del)
NM_001394372.1(BICRA):c.4423C>T (p.Arg1475Cys)
NM_001394966.1(NEK10):c.1132A>G (p.Arg378Gly) rs2149538816
NM_001394998.1(TANC2):c.1372G>A (p.Val458Met)
NM_001394998.1(TANC2):c.1534C>T (p.Arg512Cys)
NM_001447.3(FAT2):c.11021C>A (p.Ala3674Glu) rs2127579638
NM_001447.3(FAT2):c.4627A>T (p.Ile1543Phe)
NM_001571.6(IRF3):c.438C>G (p.Asn146Lys)
NM_001754.5(RUNX1):c.761A>G (p.Asn254Ser) rs2146075026
NM_001759.4(CCND2):c.544C>T (p.Gln182Ter) rs2120532136
NM_001844.5(COL2A1):c.94G>A (p.Gly32Ser) rs779475416
NM_001845.6(COL4A1):c.3574G>C (p.Gly1192Arg) rs2139156269
NM_001903.5(CTNNA1):c.2434-5C>G rs369052669
NM_001933.5(DLST):c.147-17G>C rs201278080
NM_001933.5(DLST):c.337G>T (p.Val113Leu) rs145434180
NM_001933.5(DLST):c.976-7C>G rs200530358
NM_001940.4(ATN1):c.1464GCA[10] (p.Gln498_Gln502del) rs60216939
NM_001942.4(DSG1):c.2768C>G (p.Thr923Arg) rs148488583
NM_001999.4(FBN2):c.7981C>T (p.Pro2661Ser) rs2126795744
NM_002025.4(AFF2):c.1016A>T (p.Lys339Met) rs2124469469
NM_002240.5(KCNJ6):c.964C>T (p.Arg322Ter) rs2123361583
NM_002246.3(KCNK3):c.386G>A (p.Gly129Asp) rs2148038286
NM_002354.3(EPCAM):c.267G>C (p.Gln89His) rs146480420
NM_002382.5(MAX):c.-126AGTG[4] rs556734672
NM_002439.5(MSH3):c.2129C>G (p.Pro710Arg) rs2112885148
NM_002439.5(MSH3):c.545C>G (p.Ser182Cys) rs769878887
NM_002439.5(MSH3):c.913G>A (p.Gly305Arg) rs2112814234
NM_002460.4(IRF4):c.1351G>T (p.Glu451Ter)
NM_002468.5(MYD88):c.244C>T (p.Pro82Ser)
NM_002473.6(MYH9):c.5555A>T (p.Asp1852Val) rs2146327153
NM_002474.3(MYH11):c.2993C>A (p.Ser998Ter) rs2151247930
NM_002480.3(PPP1R12A):c.2459G>A (p.Arg820Lys)
NM_002485.5(NBN):c.1787A>T (p.Asp596Val) rs1005715125
NM_002485.5(NBN):c.662T>C (p.Ile221Thr) rs1187082186
NM_002500.5(NEUROD1):c.147G>C (p.Glu49Asp) rs1461335081
NM_002528.7(NTHL1):c.183G>C (p.Glu61Asp) rs1596223267
NM_002528.7(NTHL1):c.358C>T (p.Arg120Cys) rs370228590
NM_002578.5(PAK3):c.1408-1G>C
NM_002637.4(PHKA1):c.3036G>A (p.Val1012=) rs2147674398
NM_002653.5(PITX1):c.398T>A (p.Val133Glu) rs2149560656
NM_002661.5(PLCG2):c.2003C>T (p.Ala668Val)
NM_002661.5(PLCG2):c.289A>G (p.Thr97Ala)
NM_002691.4(POLD1):c.1057C>T (p.Leu353=) rs1601204455
NM_002691.4(POLD1):c.218C>T (p.Ser73Leu) rs1601190393
NM_002691.4(POLD1):c.2560G>A (p.Asp854Asn) rs373650022
NM_002691.4(POLD1):c.2717+12_2717+13del rs2122477513
NM_002691.4(POLD1):c.2861C>T (p.Thr954Met) rs374016016
NM_002691.4(POLD1):c.4G>C (p.Asp2His) rs2038467819
NM_002715.4(PPP2CA):c.149G>C (p.Cys50Ser)
NM_002796.3(PSMB4):c.151G>C (p.Val51Leu)
NM_002800.5(PSMB9):c.323A>C (p.Tyr108Ser)
NM_002816.5(PSMD12):c.76C>T (p.Gln26Ter)
NM_002878.4(RAD51D):c.346-3C>G rs758583343
NM_002971.6(SATB1):c.1876C>T (p.Pro626Ser) rs771269224
NM_003001.5(SDHC):c.166A>T (p.Ile56Phe) rs1363555121
NM_003024.3(ITSN1):c.4044T>G (p.Asp1348Glu)
NM_003031.4(SIAH1):c.63G>T (p.Arg21Ser)
NM_003036.4(SKI):c.41A>C (p.His14Pro) rs1232615367
NM_003042.4(SLC6A1):c.1139T>A (p.Leu380His)
NM_003070.5(SMARCA2):c.4591G>A (p.Glu1531Lys)
NM_003072.5(SMARCA4):c.2381C>T (p.Thr794Met) rs1193519882
NM_003072.5(SMARCA4):c.303G>T (p.Gly101=) rs1170894634
NM_003072.5(SMARCA4):c.3168+11C>G rs760537610
NM_003072.5(SMARCA4):c.3382+14A>G rs1316952160
NM_003072.5(SMARCA4):c.4590G>A (p.Met1530Ile) rs1555795386
NM_003107.3(SOX4):c.700G>C (p.Ala234Pro) rs2113557826
NM_003128.3(SPTBN1):c.511G>C (p.Glu171Gln)
NM_003128.3(SPTBN1):c.7034G>A (p.Arg2345Gln)
NM_003184.4(TAF2):c.2113A>G (p.Ile705Val) rs2131134105
NM_003184.4(TAF2):c.21G>T (p.Glu7Asp) rs1439488432
NM_003184.4(TAF2):c.2918A>T (p.Asp973Val) rs2131010568
NM_003235.5(TG):c.4777G>T (p.Val1593Phe) rs1053887198
NM_003239.5(TGFB3):c.1040C>T (p.Pro347Leu) rs755084678
NM_003334.4(UBA1):c.1575+5G>A
NM_003334.4(UBA1):c.1939-171_1939-167del
NM_003359.4(UGDH):c.734G>C (p.Gly245Ala) rs2109928147
NM_003482.4(KMT2D):c.5533+1G>A rs2120567380
NM_003560.4(PLA2G6):c.1252A>T (p.Ile418Phe) rs2145748013
NM_003599.4(SUPT3H):c.-1+5881del rs2150312576
NM_003620.4(PPM1D):c.1669C>T (p.Arg557Ter)
NM_003626.5(PPFIA1):c.3428A>C (p.Lys1143Thr)
NM_003626.5(PPFIA1):c.691C>A (p.Pro231Thr)
NM_003680.4(YARS1):c.178G>A (p.Ala60Thr) rs367649729
NM_003718.5(CDK13):c.135_149dup (p.Pro51_Pro52insGlnLeuLeuGlnPro)
NM_003718.5(CDK13):c.2330C>G (p.Ala777Gly)
NM_003719.5(PDE8B):c.1196A>T (p.Asp399Val)
NM_003791.4(MBTPS1):c.1550C>G (p.Thr517Ser)
NM_003900.5(SQSTM1):c.1054G>T (p.Glu352Ter) rs765610848
NM_003906.5(MCM3AP):c.2317A>G (p.Lys773Glu)
NM_003924.4(PHOX2B):c.188G>T (p.Gly63Val) rs2153113046
NM_003924.4(PHOX2B):c.377A>G (p.Tyr126Cys) rs773193688
NM_003924.4(PHOX2B):c.591C>A (p.Gly197=) rs144414806
NM_003924.4(PHOX2B):c.610C>G (p.Pro204Ala) rs1292727082
NM_003977.4(AIP):c.790_792del (p.Asn264del) rs760690172
NM_003998.4(NFKB1):c.1A>G (p.Met1Val)
NM_003998.4(NFKB1):c.215G>A (p.Gly72Asp) rs1578735801
NM_004006.3(DMD):c.2479G>A (p.Glu827Lys) rs794727323
NM_004006.3(DMD):c.2984G>T (p.Gly995Val) rs2148460524
NM_004006.3(DMD):c.7942C>T (p.Leu2648Phe) rs2148615679
NM_004006.3(DMD):c.881C>T (p.Pro294Leu) rs2063777083
NM_004113.6(FGF12):c.232G>C (p.Val78Leu)
NM_004168.4(SDHA):c.1334C>T (p.Ser445Leu) rs1296066077
NM_004168.4(SDHA):c.837G>T (p.Met279Ile) rs746145822
NM_004187.5(KDM5C):c.3826G>A (p.Glu1276Lys) rs2146820727
NM_004260.4(RECQL4):c.1670T>C (p.Met557Thr) rs1432340675
NM_004260.4(RECQL4):c.1790C>T (p.Pro597Leu) rs1586810446
NM_004260.4(RECQL4):c.2044A>G (p.Arg682Gly) rs1455596790
NM_004260.4(RECQL4):c.2148C>G (p.Ile716Met) rs772168426
NM_004260.4(RECQL4):c.2195C>T (p.Ser732Phe) rs1060501366
NM_004260.4(RECQL4):c.2306T>C (p.Val769Ala) rs1827622405
NM_004260.4(RECQL4):c.2463+18C>A rs41542315
NM_004260.4(RECQL4):c.251G>A (p.Arg84Gln) rs745596664
NM_004260.4(RECQL4):c.2740G>A (p.Asp914Asn) rs371327041
NM_004260.4(RECQL4):c.3062G>A (p.Arg1021Gln) rs34666647
NM_004260.4(RECQL4):c.3153A>G (p.Ile1051Met) rs2130659004
NM_004260.4(RECQL4):c.3496G>A (p.Gly1166Ser) rs779410033
NM_004304.5(ALK):c.107C>A (p.Pro36Gln) rs773691688
NM_004304.5(ALK):c.1361C>T (p.Ala454Val) rs766818130
NM_004304.5(ALK):c.1489C>T (p.His497Tyr) rs2148250941
NM_004304.5(ALK):c.151A>G (p.Arg51Gly) rs904831964
NM_004304.5(ALK):c.3458C>G (p.Pro1153Arg) rs917295547
NM_004311.4(ARL3):c.82G>A (p.Ala28Thr) rs1249451954
NM_004329.3(BMPR1A):c.1426G>A (p.Val476Ile) rs2133621480
NM_004329.3(BMPR1A):c.443A>G (p.Asp148Gly) rs1589768201
NM_004329.3(BMPR1A):c.62T>C (p.Val21Ala) rs2133321901
NM_004333.6(BRAF):c.1897T>C (p.Tyr633His) rs746010267
NM_004333.6(BRAF):c.413T>C (p.Phe138Ser) rs1339350570
NM_004360.5(CDH1):c.197C>T (p.Thr66Ile) rs2152126654
NM_004360.5(CDH1):c.304G>T (p.Ala102Ser) rs368492235
NM_004360.5(CDH1):c.531+17T>C rs1057520562
NM_004364.5(CEBPA):c.692C>A (p.Pro231His) rs2145260679
NM_004366.6(CLCN2):c.1506C>G (p.Val502=)
NM_004370.6(COL12A1):c.585T>G (p.Asn195Lys) rs2149475684
NM_004393.6(DAG1):c.1838_1839del (p.Val613fs) rs2107944958
NM_004415.4(DSP):c.5006T>C (p.Leu1669Pro) rs776712810
NM_004415.4(DSP):c.5414G>T (p.Cys1805Phe) rs768161038
NM_004456.5(EZH2):c.1200AGA[3] (p.Glu404del) rs775039041
NM_004456.5(EZH2):c.1918A>G (p.Asn640Asp)
NM_004484.4(GPC3):c.1033-4250del rs372010975
NM_004560.4(ROR2):c.929T>G (p.Leu310Arg) rs2118698909
NM_004562.3(PRKN):c.-20C>T rs1392354351
NM_004586.3(RPS6KA3):c.2042A>G (p.His681Arg) rs2148624071
NM_004595.5(SMS):c.1098del (p.Ter367GluextTer?) rs2146961595
NM_004606.5(TAF1):c.1773+1G>C
NM_004628.5(XPC):c.191G>C (p.Gly64Ala) rs183478541
NM_004628.5(XPC):c.2311T>C (p.Cys771Arg) rs2125009714
NM_004628.5(XPC):c.85C>T (p.Arg29Cys) rs765599107
NM_004629.2(FANCG):c.1657C>T (p.His553Tyr) rs1251259584
NM_004655.4(AXIN2):c.1404CCA[7] (p.His474dup) rs570443161
NM_004656.4(BAP1):c.1217A>C (p.Glu406Ala) rs535695655
NM_004656.4(BAP1):c.15G>C (p.Trp5Cys) rs916069743
NM_004656.4(BAP1):c.1816G>A (p.Ala606Thr) rs2153226472
NM_004656.4(BAP1):c.2057-3C>G
NM_004656.4(BAP1):c.323T>A (p.Leu108Gln) rs2153228105
NM_004656.4(BAP1):c.628A>G (p.Ile210Val) rs1705177017
NM_004793.4(LONP1):c.76G>C (p.Ala26Pro) rs2145645967
NM_004793.4(LONP1):c.79G>C (p.Ala27Pro) rs2055412624
NM_004818.3(DDX23):c.779A>G (p.Lys260Arg)
NM_004859.4(CLTC):c.1873C>T (p.Arg625Cys)
NM_004863.4(SPTLC2):c.1179G>T (p.Glu393Asp) rs1160521606
NM_004933.3(CDH15):c.2038C>G (p.Leu680Val) rs2151605300
NM_004933.3(CDH15):c.328C>A (p.Leu110Met) rs2151599285
NM_004958.4(MTOR):c.6619A>G (p.Thr2207Ala) rs2100381667
NM_004959.5(NR5A1):c.179C>T (p.Thr60Met) rs1198949266
NM_004972.4(JAK2):c.436G>A (p.Asp146Asn) rs1299892808
NM_004973.4(JARID2):c.745G>C (p.Ala249Pro)
NM_004975.4(KCNB1):c.2315C>A (p.Ser772Tyr) rs1445771227
NM_004993.6(ATXN3):c.892CAG[11] (p.Gln303_Gln305dup) rs193922928
NM_005026.5(PIK3CD):c.1772A>G (p.His591Arg) rs1287071221
NM_005027.4(PIK3R2):c.458C>G (p.Pro153Arg) rs770445875
NM_005120.3(MED12):c.5422C>T (p.Arg1808Trp) rs372271659
NM_005121.3(MED13):c.1758C>G (p.Phe586Leu)
NM_005159.5(ACTC1):c.551_556del (p.Gly184_Arg185del) rs2140430900
NM_005159.5(ACTC1):c.932T>A (p.Ile311Asn) rs2140429575
NM_005228.5(EGFR):c.1696G>A (p.Ala566Thr) rs2128944759
NM_005228.5(EGFR):c.2050C>G (p.Gln684Glu) rs2128952697
NM_005228.5(EGFR):c.2963A>G (p.His988Arg) rs17290699
NM_005228.5(EGFR):c.3110C>G (p.Ser1037Cys) rs765496858
NM_005228.5(EGFR):c.3114+14_3114+15insC rs2128971846
NM_005228.5(EGFR):c.3401G>A (p.Gly1134Asp) rs865825533
NM_005236.3(ERCC4):c.1009A>G (p.Ile337Val) rs1333280201
NM_005236.3(ERCC4):c.1162T>G (p.Leu388Val) rs199505105
NM_005236.3(ERCC4):c.1597G>A (p.Glu533Lys) rs2141607751
NM_005236.3(ERCC4):c.2303C>G (p.Ser768Cys) rs12928650
NM_005236.3(ERCC4):c.2726T>C (p.Val909Ala) rs2141621558
NM_005359.6(SMAD4):c.250-12T>G rs2144405014
NM_005359.6(SMAD4):c.479A>G (p.Asp160Gly) rs1555685629
NM_005359.6(SMAD4):c.667+3G>C rs757971589
NM_005359.6(SMAD4):c.755G>T (p.Gly252Val) rs878854768
NM_005431.2(XRCC2):c.213A>C (p.Glu71Asp) rs2116988328
NM_005488.3(TOM1):c.500G>C (p.Arg167Thr)
NM_005591.4(MRE11):c.1274C>A (p.Thr425Lys) rs777730625
NM_005591.4(MRE11):c.314+6T>C rs864622413
NM_005592.4(MUSK):c.1928-8G>A
NM_005732.4(RAD50):c.3442C>T (p.Arg1148Cys) rs746841895
NM_005732.4(RAD50):c.3877_3879dup (p.Ile1293dup) rs765370709
NM_005732.4(RAD50):c.833G>T (p.Arg278Leu) rs587782307
NM_005744.5(ARIH1):c.383C>G (p.Ala128Gly)
NM_005883.3(APC2):c.4031G>A (p.Arg1344Gln)
NM_005883.3(APC2):c.6344T>C (p.Val2115Ala)
NM_005918.4(MDH2):c.690C>G (p.Ile230Met) rs2116700329
NM_005921.2(MAP3K1):c.2557C>A (p.Arg853Ser) rs368201444
NM_005993.5(TBCD):c.449G>C (p.Arg150Pro) rs777029100
NM_006005.3(WFS1):c.2027G>A (p.Arg676His) rs143055296
NM_006015.6(ARID1A):c.3506C>T (p.Pro1169Leu)
NM_006015.6(ARID1A):c.4085A>T (p.Tyr1362Phe) rs2081109148
NM_006015.6(ARID1A):c.6275C>A (p.Ala2092Glu) rs948169406
NM_006060.6(IKZF1):c.563T>C (p.Leu188Pro)
NM_006206.6(PDGFRA):c.274G>A (p.Ala92Thr) rs2110243163
NM_006206.6(PDGFRA):c.2882G>A (p.Ser961Asn) rs2110347989
NM_006206.6(PDGFRA):c.3074T>C (p.Ile1025Thr) rs1002548765
NM_006214.4(PHYH):c.400T>C (p.Cys134Arg) rs775822544
NM_006231.4(POLE):c.1545C>G (p.Ile515Met) rs749768300
NM_006231.4(POLE):c.1942G>A (p.Glu648Lys) rs961415389
NM_006231.4(POLE):c.1A>G (p.Met1Val) rs878854847
NM_006231.4(POLE):c.2026+3G>T rs749631362
NM_006231.4(POLE):c.2103G>C (p.Glu701Asp) rs2135975361
NM_006231.4(POLE):c.2648T>G (p.Val883Gly) rs1555226430
NM_006231.4(POLE):c.3331C>T (p.Arg1111Trp) rs774028311
NM_006231.4(POLE):c.3583-3C>T rs371139965
NM_006231.4(POLE):c.4117G>A (p.Ala1373Thr) rs778804868
NM_006231.4(POLE):c.4582G>T (p.Ala1528Ser) rs373468985
NM_006236.3(POU3F3):c.568G>C (p.Ala190Pro) rs2104340357
NM_006267.5(RANBP2):c.4111A>T (p.Lys1371Ter) rs761164866
NM_006268.5(DPF2):c.745C>G (p.Pro249Ala)
NM_006296.7(VRK2):c.*102_*105dup rs759217526
NM_006306.4(SMC1A):c.597A>G (p.Ala199=) rs2146605510
NM_006361.6(HOXB13):c.309_311del (p.Ala104del) rs767438744
NM_006545.5(NPRL2):c.994C>T (p.Arg332Trp)
NM_006567.5(FARS2):c.1065+9040A>G
NM_006567.5(FARS2):c.1217+75319G>C
NM_006567.5(FARS2):c.1218-33495A>G
NM_006593.4(TBR1):c.581C>T (p.Ser194Phe) rs2105278528
NM_006761.5(YWHAE):c.265-447C>G
NM_006766.5(KAT6A):c.4949A>C (p.Gln1650Pro) rs2150855649
NM_006767.4(LZTR1):c.1581C>G (p.Phe527Leu) rs2147967432
NM_006767.4(LZTR1):c.1978G>C (p.Glu660Gln)
NM_006767.4(LZTR1):c.2035C>T (p.Pro679Ser) rs1434258545
NM_006767.4(LZTR1):c.5C>T (p.Ala2Val) rs1924222609
NM_006772.3(SYNGAP1):c.1465C>T (p.Leu489Phe) rs1554121340
NM_006796.3(AFG3L2):c.1081A>G (p.Thr361Ala)
NM_006940.6(SOX5):c.1801G>A (p.Glu601Lys) rs2135895171
NM_007055.4(POLR3A):c.1771-6C>A rs115020338
NM_007055.4(POLR3A):c.1907C>T (p.Ser636Phe) rs267608676
NM_007194.4(CHEK2):c.1417G>T (p.Ala473Ser)
NM_007194.4(CHEK2):c.293C>T (p.Ala98Val) rs1601851270
NM_007194.4(CHEK2):c.322T>C (p.Cys108Arg) rs730881681
NM_007194.4(CHEK2):c.422A>C (p.Lys141Thr) rs786203192
NM_007194.4(CHEK2):c.580A>C (p.Ser194Arg) rs786203042
NM_007194.4(CHEK2):c.677T>C (p.Leu226Pro) rs1296957097
NM_007294.4(BRCA1):c.1012A>G (p.Lys338Glu) rs397508826
NM_007294.4(BRCA1):c.1148A>G (p.Asn383Ser) rs770090143
NM_007294.4(BRCA1):c.11C>T (p.Ser4Phe) rs786203152
NM_007294.4(BRCA1):c.1379T>C (p.Ile460Thr) rs398122634
NM_007294.4(BRCA1):c.2302A>G (p.Ser768Gly) rs398122656
NM_007294.4(BRCA1):c.3083G>T (p.Arg1028Leu) rs80357459
NM_007294.4(BRCA1):c.4111G>C (p.Gly1371Arg) rs774593602
NM_007294.4(BRCA1):c.4154T>C (p.Leu1385Pro) rs1597858317
NM_007294.4(BRCA1):c.466C>T (p.Leu156Phe) rs587778115
NM_007294.4(BRCA1):c.4712T>C (p.Phe1571Ser) rs273901740
NM_007294.4(BRCA1):c.4963T>C (p.Ser1655Pro) rs1057518639
NM_007294.4(BRCA1):c.5306A>G (p.Tyr1769Cys) rs397509257
NM_007294.4(BRCA1):c.586T>G (p.Tyr196Asp) rs1597883964
NM_007294.4(BRCA1):c.809A>T (p.His270Leu) rs1597879864
NM_007327.4(GRIN1):c.570+18G>A
NM_007363.5(NONO):c.81_95del (p.23HHQQQ[1]) rs756534222
NM_012120.3(CD2AP):c.1546G>A (p.Glu516Lys)
NM_012481.5(IKZF3):c.1278A>T (p.Glu426Asp)
NM_013275.6(ANKRD11):c.2960A>G (p.Asp987Gly) rs2151757325
NM_014251.3(SLC25A13):c.1420G>A (p.Val474Met) rs554809009
NM_014271.4(IL1RAPL1):c.1876C>T (p.Arg626Ter)
NM_014491.4(FOXP2):c.983G>A (p.Arg328Gln) rs759256511
NM_014629.4(ARHGEF10):c.685A>G (p.Met229Val) rs749423042
NM_014712.3(SETD1A):c.2785A>G (p.Lys929Glu)
NM_014712.3(SETD1A):c.3053C>T (p.Ser1018Phe)
NM_014712.3(SETD1A):c.3109A>T (p.Ser1037Cys)
NM_014727.3(KMT2B):c.3119C>A (p.Pro1040His) rs2146446009
NM_014727.3(KMT2B):c.4553G>A (p.Arg1518Gln)
NM_014908.4(DOLK):c.325C>G (p.Arg109Gly) rs755188614
NM_014975.3(MAST1):c.278C>T (p.Ser93Leu) rs878853165
NM_015001.3(SPEN):c.1934A>G (p.Asp645Gly)
NM_015021.3(ZNF292):c.6884dup (p.Leu2295fs) rs2127873897
NM_015107.3(PHF8):c.2863A>T (p.Thr955Ser) rs969542561
NM_015205.3(ATP11A):c.1810-3C>T
NM_015311.3(OBSL1):c.4005C>A (p.Asp1335Glu) rs375716830
NM_015335.5(MED13L):c.199A>G (p.Asn67Asp)
NM_015335.5(MED13L):c.2189A>G (p.Asn730Ser) rs2137378538
NM_015386.3(COG4):c.2084T>C (p.Val695Ala) rs2048999850
NM_015557.3(CHD5):c.2247A>C (p.Lys749Asn)
NM_015570.4(AUTS2):c.1924A>G (p.Met642Val)
NM_015570.4(AUTS2):c.1999G>A (p.Val667Ile)
NM_015570.4(AUTS2):c.3527_3529del (p.Asp1176del) rs763668824
NM_015884.4(MBTPS2):c.1555C>G (p.Arg519Gly) rs758206338
NM_015915.5(ATL1):c.1120-1086T>C
NM_015915.5(ATL1):c.38G>A (p.Gly13Glu) rs2140201659
NM_015967.8(PTPN22):c.2201C>T (p.Ser734Phe)
NM_016032.4(ZDHHC9):c.346G>A (p.Val116Met) rs2124117421
NM_016169.4(SUFU):c.1084C>G (p.Arg362Gly) rs36049457
NM_016169.4(SUFU):c.31G>C (p.Gly11Arg) rs1322807658
NM_016169.4(SUFU):c.37A>C (p.Thr13Pro) rs1456048322
NM_016239.4(MYO15A):c.3340T>C (p.Phe1114Leu) rs2142262124
NM_016953.4(PDE11A):c.793_816del (p.Pro265_Thr272del)
NM_017442.4(TLR9):c.2668G>A (p.Glu890Lys)
NM_017565.4(FAM20A):c.1210T>C (p.Phe404Leu)
NM_017617.5(NOTCH1):c.2869G>C (p.Gly957Arg) rs773902766
NM_017617.5(NOTCH1):c.5140A>G (p.Ile1714Val) rs2133333190
NM_017635.5(KMT5B):c.1712C>G (p.Pro571Arg)
NM_017654.4(SAMD9):c.3728_3731del (p.Asn1243fs) rs778111446
NM_017755.6(NSUN2):c.359+257C>G
NM_017763.6(RNF43):c.146G>A (p.Arg49Lys) rs2143695776
NM_017763.6(RNF43):c.1518C>A (p.Asp506Glu) rs1352943460
NM_017780.4(CHD7):c.7459G>T (p.Ala2487Ser)
NM_017934.7(PHIP):c.4337G>T (p.Arg1446Ile) rs2127682783
NM_017934.7(PHIP):c.5317C>T (p.Arg1773Ter) rs1554193405
NM_018026.4(PACS1):c.440T>G (p.Leu147Arg)
NM_018127.7(ELAC2):c.200G>C (p.Ser67Thr) rs1386145788
NM_018136.5(ASPM):c.71T>G (p.Leu24Arg) rs2125116158
NM_018344.6(SLC29A3):c.303_320dup (p.Tyr102_Leu107dup) rs1846497179
NM_018489.3(ASH1L):c.3284C>T (p.Ser1095Leu)
NM_018676.4(THSD1):c.2281C>T (p.Arg761Trp)
NM_018896.5(CACNA1G):c.1613C>T (p.Ser538Leu)
NM_019066.5(MAGEL2):c.1289T>G (p.Val430Gly) rs1236824584
NM_019066.5(MAGEL2):c.3075T>A (p.Asn1025Lys) rs758835928
NM_019066.5(MAGEL2):c.3131C>G (p.Ser1044Trp)
NM_019109.5(ALG1):c.1137G>A (p.Val379=) rs2142725775
NM_019112.4(ABCA7):c.5876G>A (p.Ser1959Asn) rs1485597103
NM_019842.4(KCNQ5):c.106A>C (p.Met36Leu)
NM_019842.4(KCNQ5):c.15C>G (p.His5Gln) rs2098915503
NM_019842.4(KCNQ5):c.7C>A (p.Arg3Ser) rs549110435
NM_019885.4(CYP26B1):c.321G>A (p.Met107Ile) rs2104095041
NM_020320.5(RARS2):c.9C>G (p.Cys3Trp) rs762495974
NM_020433.5(JPH2):c.222A>G (p.Ile74Met) rs2145906046
NM_020461.4(TUBGCP6):c.3221A>G (p.Gln1074Arg) rs1450554636
NM_020699.4(GATAD2B):c.409C>T (p.Arg137Cys) rs1425237110
NM_020791.4(TAOK1):c.826T>G (p.Leu276Val)
NM_020791.4(TAOK1):c.877C>G (p.Leu293Val) rs2153027979
NM_020937.4(FANCM):c.1006C>A (p.Leu336Met) rs2139160369
NM_020937.4(FANCM):c.103C>T (p.Pro35Ser) rs2139100124
NM_020937.4(FANCM):c.1238A>G (p.Tyr413Cys) rs771835190
NM_020937.4(FANCM):c.1397-14A>T rs757351765
NM_020937.4(FANCM):c.1397-15TA[6] rs112326758
NM_020937.4(FANCM):c.1784_1785dup (p.Arg596fs) rs2139205498
NM_020937.4(FANCM):c.179C>T (p.Ala60Val) rs200717151
NM_020937.4(FANCM):c.2617G>A (p.Gly873Ser) rs538729337
NM_020937.4(FANCM):c.3676G>A (p.Asp1226Asn) rs2139250484
NM_020937.4(FANCM):c.4586A>G (p.Asp1529Gly) rs1889328925
NM_020937.4(FANCM):c.4781T>A (p.Ile1594Asn) rs1594814599
NM_020937.4(FANCM):c.5809T>G (p.Cys1937Gly) rs2139328430
NM_020964.3(EPG5):c.2258-878C>T
NM_020964.3(EPG5):c.4072G>A (p.Glu1358Lys) rs775481546
NM_020971.3(SPTBN4):c.2564G>T (p.Arg855Leu) rs2145866088
NM_020975.6(RET):c.1349G>T (p.Ser450Ile) rs2132768628
NM_020975.6(RET):c.1995C>A (p.His665Gln) rs377767413
NM_020975.6(RET):c.2801+17C>T rs2132987446
NM_020975.6(RET):c.2940-26A>C
NM_020975.6(RET):c.867+9C>T rs2132709396
NM_020987.5(ANK3):c.4231C>G (p.Arg1411Gly)
NM_020987.5(ANK3):c.4424C>T (p.Pro1475Leu)
NM_021023.6(CFHR3):c.844T>G (p.Leu282Val)
NM_021035.3(ZNFX1):c.5345_5348del (p.Asp1782fs)
NM_021072.4(HCN1):c.130G>T (p.Gly44Trp) rs1421975269
NM_021096.4(CACNA1I):c.4759A>C (p.Met1587Leu)
NM_021098.3(CACNA1H):c.2051C>A (p.Pro684His) rs767983680
NM_021728.4(OTX2):c.145G>A (p.Glu49Lys)
NM_021814.5(ELOVL5):c.702C>A (p.Phe234Leu)
NM_021922.3(FANCE):c.1275G>C (p.Lys425Asn) rs2150897197
NM_021922.3(FANCE):c.313G>A (p.Val105Ile) rs373159305
NM_021922.3(FANCE):c.740G>A (p.Ser247Asn) rs1767336620
NM_021922.3(FANCE):c.965G>A (p.Ser322Asn) rs2150894071
NM_021922.3(FANCE):c.972G>A (p.Met324Ile) rs2150894599
NM_021930.6(RINT1):c.1654G>C (p.Asp552His) rs1586250839
NM_021930.6(RINT1):c.2187-3C>T rs2133495282
NM_021930.6(RINT1):c.442A>G (p.Met148Val) rs1790502878
NM_021930.6(RINT1):c.736C>G (p.Pro246Ala) rs535827322
NM_021975.4(RELA):c.1468G>A (p.Glu490Lys) rs2135548689
NM_021975.4(RELA):c.1541C>G (p.Ala514Gly)
NM_022370.4(ROBO3):c.160G>A (p.Gly54Arg) rs1435251604
NM_022455.5(NSD1):c.1338A>T (p.Ser446=) rs2149842674
NM_022455.5(NSD1):c.2225C>G (p.Pro742Arg) rs777960412
NM_022455.5(NSD1):c.2816C>T (p.Pro939Leu) rs1179994585
NM_022455.5(NSD1):c.4890C>G (p.Asn1630Lys) rs2149912553
NM_022455.5(NSD1):c.5781C>G (p.Ala1927=) rs61749654
NM_022455.5(NSD1):c.626G>A (p.Ser209Asn) rs2149756502
NM_022455.5(NSD1):c.6767C>G (p.Ala2256Gly) rs2127280001
NM_022455.5(NSD1):c.7511T>C (p.Val2504Ala) rs2127283325
NM_022725.4(FANCF):c.801C>A (p.His267Gln) rs762356967
NM_023110.3(FGFR1):c.369CTC[1] (p.Ser125del) rs1328266877
NM_024301.5(FKRP):c.1051G>C (p.Ala351Pro) rs982005875
NM_024426.6(WT1):c.196G>A (p.Ala66Thr) rs1590410967
NM_024426.6(WT1):c.577G>A (p.Ala193Thr) rs1590409175
NM_024426.6(WT1):c.661+18C>A rs369162648
NM_024642.5(GALNT12):c.190G>A (p.Val64Ile) rs917032910
NM_024642.5(GALNT12):c.1A>C (p.Met1Leu) rs1259048855
NM_024642.5(GALNT12):c.208G>T (p.Val70Leu) rs2118257028
NM_024675.4(PALB2):c.1389T>G (p.Ile463Met) rs2142417519
NM_024675.4(PALB2):c.1697G>C (p.Arg566Pro) rs144617793
NM_024675.4(PALB2):c.2249T>C (p.Val750Ala) rs1555460430
NM_024675.4(PALB2):c.228A>G (p.Ile76Met) rs1555461872
NM_024675.4(PALB2):c.349C>A (p.Pro117Thr) rs1413238389
NM_024675.4(PALB2):c.843_845del (p.Arg282del) rs786203247
NM_025137.4(SPG11):c.3922G>A (p.Glu1308Lys) rs779198786
NM_025137.4(SPG11):c.6898_6899del (p.Leu2300fs) rs312262786
NM_025216.3(WNT10A):c.318C>G (p.Asn106Lys) rs1283426045
NM_030632.3(ASXL3):c.5954G>T (p.Arg1985Met) rs1271790414
NM_030650.3(LNPK):c.-98dup
NM_030650.3(LNPK):c.317-4073T>C
NM_030973.4(MED25):c.1202C>T (p.Ala401Val) rs868663771
NM_031263.4(HNRNPK):c.214-55T>A
NM_031407.7(HUWE1):c.4654G>A (p.Gly1552Ser)
NM_031443.4(CCM2):c.204+8G>A
NM_032040.5(CCDC8):c.1010_1033del (p.Glu337_Arg344del) rs757781470
NM_032043.3(BRIP1):c.1186C>T (p.His396Tyr)
NM_032043.3(BRIP1):c.2097G>A (p.Lys699=) rs1060501754
NM_032043.3(BRIP1):c.2293G>A (p.Val765Met) rs1555590489
NM_032043.3(BRIP1):c.2365G>T (p.Val789Leu) rs876661097
NM_032043.3(BRIP1):c.3475G>A (p.Ala1159Thr) rs368610199
NM_032193.4(RNASEH2C):c.*1033C>T rs2135646256
NM_032217.5(ANKRD17):c.5069G>A (p.Cys1690Tyr)
NM_032415.7(CARD11):c.2917C>T (p.Arg973Cys) rs754645078
NM_032444.4(SLX4):c.1262T>C (p.Leu421Pro) rs746531891
NM_032444.4(SLX4):c.1672C>T (p.Arg558Trp) rs372264472
NM_032444.4(SLX4):c.1717C>T (p.Pro573Ser) rs1180412556
NM_032444.4(SLX4):c.1798C>T (p.Pro600Ser) rs2151130071
NM_032444.4(SLX4):c.2315C>A (p.Ser772Tyr) rs933623617
NM_032444.4(SLX4):c.2722C>T (p.Pro908Ser) rs2040582715
NM_032444.4(SLX4):c.2797G>A (p.Gly933Ser) rs763053373
NM_032444.4(SLX4):c.3046C>G (p.Leu1016Val) rs141412644
NM_032444.4(SLX4):c.3119C>T (p.Pro1040Leu) rs1241618835
NM_032444.4(SLX4):c.4057C>A (p.His1353Asn) rs142205392
NM_032444.4(SLX4):c.4200_4202del (p.Asp1400del) rs1237957529
NM_032444.4(SLX4):c.421G>T (p.Gly141Trp) rs137976282
NM_032444.4(SLX4):c.464A>T (p.Glu155Val) rs2040810540
NM_032444.4(SLX4):c.5040G>C (p.Arg1680Ser) rs199592185
NM_032444.4(SLX4):c.506C>T (p.Ser169Leu) rs776018346
NM_032634.4(PIGO):c.2561G>A (p.Arg854His)
NM_032634.4(PIGO):c.974C>A (p.Pro325His)
NM_032638.5(GATA2):c.35C>A (p.Ala12Glu) rs1263269900
NM_032638.5(GATA2):c.682C>T (p.Pro228Ser) rs375298899
NM_032888.4(COL27A1):c.1727G>T (p.Ser576Ile) rs148019836
NM_032977.4(CASP10):c.526A>C (p.Thr176Pro) rs2126017367
NM_033004.4(NLRP1):c.395C>T (p.Ser132Leu)
NM_033004.4(NLRP1):c.836C>T (p.Thr279Ile)
NM_033440.3(CELA2A):c.697G>A (p.Gly233Ser)
NM_052874.5(STX1B):c.463+5G>C rs1596716834
NM_058216.3(RAD51C):c.244C>T (p.His82Tyr) rs1555593593
NM_058216.3(RAD51C):c.366A>C (p.Glu122Asp) rs2143726420
NM_058216.3(RAD51C):c.419T>A (p.Val140Glu) rs767247010
NM_058216.3(RAD51C):c.572-3C>G rs1567794089
NM_080425.4(GNAS):c.1058C>T (p.Pro353Leu)
NM_133433.4(NIPBL):c.359-1085A>G
NM_133647.2(SLC12A6):c.320_322del rs758672590
NM_138636.5(TLR8):c.653C>A (p.Pro218His)
NM_138927.4(SON):c.6688C>T (p.Arg2230Trp)
NM_139058.3(ARX):c.1546G>T (p.Ala516Ser) rs747042039
NM_144508.5(KNL1):c.2616G>A (p.Met872Ile) rs189826194
NM_144599.5(NIPA1):c.44C>G (p.Ala15Gly) rs1228496868
NM_144997.7(FLCN):c.1283C>A (p.Pro428His) rs199889477
NM_144997.7(FLCN):c.134C>T (p.Ala45Val) rs556510460
NM_144997.7(FLCN):c.438G>C (p.Glu146Asp) rs1436241104
NM_145886.4(PIDD1):c.2461C>T (p.Arg821Trp)
NM_152296.5(ATP1A3):c.2095-3C>T rs782736392
NM_152383.5(DIS3L2):c.1858G>A (p.Asp620Asn) rs2106348116
NM_152383.5(DIS3L2):c.2263A>G (p.Ser755Gly) rs1281916376
NM_152383.5(DIS3L2):c.313G>T (p.Ala105Ser) rs1694761855
NM_152594.3(SPRED1):c.354A>T (p.Arg118Ser) rs2140994930
NM_152641.4(ARID2):c.1487C>T (p.Ala496Val)
NM_152703.5(SAMD9L):c.1428G>C (p.Lys476Asn)
NM_152703.5(SAMD9L):c.3924T>A (p.Cys1308Ter) rs2116474756
NM_153212.3(GJB4):c.637T>C (p.Cys213Arg)
NM_153252.5(BRWD3):c.1792C>G (p.Pro598Ala) rs1057524758
NM_153252.5(BRWD3):c.3232C>A (p.Pro1078Thr) rs2147695326
NM_153252.5(BRWD3):c.602A>T (p.Asp201Val)
NM_170606.3(KMT2C):c.12373G>A (p.Gly4125Ser) rs2129097633
NM_174936.4(PCSK9):c.1054G>T (p.Gly352Trp) rs760614435
NM_175914.5(HNF4A):c.263A>G (p.Asn88Ser)
NM_177438.3(DICER1):c.1070C>G (p.Ala357Gly) rs1555374756
NM_177438.3(DICER1):c.1342G>A (p.Val448Met) rs1555374618
NM_177438.3(DICER1):c.2180A>G (p.Asp727Gly) rs997546722
NM_177438.3(DICER1):c.2436+14A>T rs767226943
NM_177438.3(DICER1):c.2436+14_2436+23del rs756202530
NM_177438.3(DICER1):c.2449C>A (p.Pro817Thr) rs774540239
NM_177438.3(DICER1):c.2651-14T>G rs753857234
NM_177438.3(DICER1):c.360G>A (p.Lys120=) rs2140279368
NM_177438.3(DICER1):c.5171C>T (p.Pro1724Leu) rs749900564
NM_181332.3(NLGN4X):c.1316C>T (p.Thr439Ile) rs2146731722
NM_182925.5(FLT4):c.1984G>A (p.Asp662Asn) rs1299399012
NM_182931.3(KMT2E):c.1567C>A (p.Pro523Thr)
NM_182961.4(SYNE1):c.17187G>C (p.Gln5729His) rs1262683167
NM_182972.3(IRF2BP2):c.1021GCCAACGGG[1] (p.341ANG[1]) rs551125252
NM_194454.3(KRIT1):c.1411+22T>A
NM_198253.3(TERT):c.1088C>T (p.Thr363Ile) rs2126686038
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del) rs377639087
NM_198253.3(TERT):c.1399G>T (p.Ala467Ser) rs2126684365
NM_198253.3(TERT):c.531del (p.Gln177fs) rs2126689446
NM_206933.4(USH2A):c.6163G>A (p.Ala2055Thr) rs768233523
NM_207122.2(EXT2):c.1996G>T (p.Asp666Tyr) rs1441921649
NM_207122.2(EXT2):c.307A>G (p.Lys103Glu) rs907886635
NM_207122.2(EXT2):c.520A>C (p.Met174Leu) rs111589746
NM_207122.2(EXT2):c.740C>A (p.Pro247Gln) rs372237191

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