ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden and "likely benign" from any submitter

Minimum review status of the submission from Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden: Collection method of the submission from Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 549
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HGVS dbSNP gnomAD frequency
NM_014694.4(ADAMTSL2):c.2022C>T (p.Pro674=) rs534165083 0.12576
NM_152383.5(DIS3L2):c.265-15C>A rs114804860 0.01092
NM_032638.5(GATA2):c.481C>G (p.Pro161Ala) rs34799090 0.00834
NM_003001.5(SDHC):c.*84G>C rs201210474 0.00677
NM_001083116.3(PRF1):c.755A>G (p.Asn252Ser) rs28933375 0.00674
NM_000368.5(TSC1):c.2626-3C>T rs1060503192 0.00608
NM_002109.6(HARS1):c.14C>A (p.Ala5Glu) rs78741041 0.00588
NM_022725.4(FANCF):c.373G>A (p.Asp125Asn) rs61752920 0.00587
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_005236.3(ERCC4):c.1135C>T (p.Pro379Ser) rs1799802 0.00456
NM_004656.4(BAP1):c.2057-4G>T rs149499021 0.00433
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp) rs61749249 0.00399
NM_000245.4(MET):c.504G>T (p.Glu168Asp) rs55985569 0.00393
NM_002439.5(MSH3):c.2254-19T>G rs41562717 0.00388
NM_004260.4(RECQL4):c.3314G>A (p.Gly1105Asp) rs36078464 0.00371
NM_002661.5(PLCG2):c.1444T>C (p.Tyr482His) rs187956469 0.00337
NM_000222.3(KIT):c.-14T>A rs140909964 0.00332
NM_001394062.1(MACF1):c.7194C>A (p.Ala2398=) rs141334491 0.00328
NM_001005498.4(RHBDF2):c.1495G>T (p.Asp499Tyr) rs11553545 0.00318
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) rs34094720 0.00316
NM_000070.3(CAPN3):c.1746-20C>G rs201892814 0.00312
NM_001365951.3(KIF1B):c.2115+7031T>C rs149267056 0.00312
NM_018062.4(FANCL):c.112C>T (p.Leu38Phe) rs55849827 0.00310
NM_000222.3(KIT):c.1383A>G (p.Thr461=) rs151016327 0.00308
NM_000057.4(BLM):c.2160C>T (p.Ile720=) rs28385028 0.00303
NM_005732.4(RAD50):c.3879C>T (p.Ile1293=) rs28903094 0.00293
NM_006231.4(POLE):c.16G>C (p.Gly6Arg) rs202220778 0.00291
NM_001098175.2(ENTPD1):c.33G>A (p.Gln11=) rs200247284 0.00289
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_000553.6(WRN):c.3785C>G (p.Thr1262Arg) rs78488552 0.00275
NM_004364.5(CEBPA):c.402G>A (p.Ala134=) rs752254340 0.00273
NM_001005498.4(RHBDF2):c.1396C>T (p.Arg466Trp) rs143503813 0.00271
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419 0.00259
NM_005592.4(MUSK):c.1931T>C (p.Val644Ala) rs41279055 0.00255
NM_000107.3(DDB2):c.1228G>A (p.Ala410Thr) rs143049891 0.00254
NM_001194998.2(CEP152):c.2878T>C (p.Trp960Arg) rs201342438 0.00253
NM_003072.5(SMARCA4):c.2275-3C>A rs117611401 0.00243
NM_017763.6(RNF43):c.1010G>A (p.Arg337Gln) rs138844366 0.00241
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_005027.4(PIK3R2):c.160G>A (p.Val54Met) rs201370957 0.00233
NM_005045.4(RELN):c.7438G>A (p.Gly2480Ser) rs150236371 0.00232
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_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319 0.00219
NM_006767.4(LZTR1):c.2187C>T (p.Tyr729=) rs117346988 0.00218
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 0.00200
NM_001364905.1(LRBA):c.1399A>G (p.Met467Val) rs116355217 0.00196
NM_000553.6(WRN):c.2983G>A (p.Ala995Thr) rs140768346 0.00194
NM_003977.4(AIP):c.47G>A (p.Arg16His) rs145047094 0.00192
NM_005236.3(ERCC4):c.2117T>C (p.Ile706Thr) rs1800069 0.00190
NM_000051.4(ATM):c.1229T>C (p.Val410Ala) rs56128736 0.00185
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_000553.6(WRN):c.4216C>T (p.Arg1406Ter) rs11574410 0.00173
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_000057.4(BLM):c.2119C>T (p.Pro707Ser) rs146077918 0.00166
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_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_001064.4(TKT):c.1177T>C (p.Phe393Leu) rs138820989 0.00151
NM_004260.4(RECQL4):c.615C>G (p.Pro205=) rs35639991 0.00151
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn) rs142155101 0.00149
NM_000553.6(WRN):c.1149G>T (p.Leu383Phe) rs4987238 0.00148
NM_000875.5(IGF1R):c.1336A>G (p.Met446Val) rs117440569 0.00147
NM_001519.4(BRF1):c.696G>A (p.Ala232=) rs142328073 0.00147
NM_020937.4(FANCM):c.1576C>G (p.Leu526Val) rs144215747 0.00147
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_000368.5(TSC1):c.3103G>A (p.Gly1035Ser) rs118203742 0.00139
NM_016169.4(SUFU):c.910+14C>T rs202247757 0.00133
NM_001353345.2(SETD1B):c.3587T>A (p.Val1196Glu) rs188280904 0.00132
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_000057.4(BLM):c.2263A>G (p.Lys755Glu) rs142551229 0.00127
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg) rs140781259 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_004260.4(RECQL4):c.3443C>T (p.Ser1148Phe) rs35346077 0.00123
NM_017950.4(CCDC40):c.3046G>A (p.Val1016Ile) rs117307093 0.00123
NM_000057.4(BLM):c.3849G>A (p.Gln1283=) rs140524886 0.00122
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_003184.4(TAF2):c.157A>G (p.Ile53Val) rs112002462 0.00117
NM_000123.4(ERCC5):c.3356C>T (p.Ala1119Val) rs2227871 0.00116
NM_032444.4(SLX4):c.2305G>C (p.Glu769Gln) rs150712805 0.00116
NM_015631.6(TCTN3):c.946A>G (p.Thr316Ala) rs200042949 0.00115
NM_000123.4(ERCC5):c.2818G>A (p.Val940Met) rs146344855 0.00113
NM_001005273.3(CHD3):c.3417G>T (p.Gly1139=) rs61753146 0.00113
NM_144670.6(A2ML1):c.4061+1G>A rs202067416 0.00108
NM_002439.5(MSH3):c.2041C>T (p.Pro681Ser) rs115198722 0.00107
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His) rs143024324 0.00107
NM_000271.5(NPC1):c.3217G>A (p.Gly1073Ser) rs141440861 0.00105
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057 0.00104
NM_005236.3(ERCC4):c.1563C>G (p.Ser521Arg) rs41552412 0.00099
NM_022437.3(ABCG8):c.712G>A (p.Glu238Lys) rs34754243 0.00099
NM_001082486.2(ACD):c.613A>G (p.Thr205Ala) rs139438549 0.00098
NM_001365951.3(KIF1B):c.3645G>A (p.Pro1215=) rs147318592 0.00098
NM_004628.5(XPC):c.1177C>T (p.Arg393Trp) rs121965090 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_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441 0.00091
NM_001365951.3(KIF1B):c.2115+6581G>A rs41274460 0.00089
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_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.1237T>C (p.Tyr413His) rs138225703 0.00082
NM_020937.4(FANCM):c.3296G>A (p.Arg1099His) rs139382267 0.00082
NM_032634.4(PIGO):c.3163T>C (p.Phe1055Leu) rs147316771 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_000123.4(ERCC5):c.2534-10T>G rs199562917 0.00077
NM_001211.6(BUB1B):c.3094A>C (p.Asn1032His) rs34700927 0.00077
NM_006231.4(POLE):c.139C>T (p.Arg47Trp) rs143626223 0.00076
NM_015909.4(NBAS):c.3361-19A>G rs201607999 0.00075
NM_004793.4(LONP1):c.1876G>A (p.Val626Met) rs147307965 0.00074
NM_006231.4(POLE):c.3718G>A (p.Glu1240Lys) rs113594027 0.00074
NM_152383.5(DIS3L2):c.1447C>G (p.Arg483Gly) rs186865544 0.00073
NM_002691.4(POLD1):c.2565-17G>A rs200576676 0.00072
NM_017763.6(RNF43):c.1825C>T (p.Arg609Trp) rs139405076 0.00072
NM_001113378.2(FANCI):c.824T>C (p.Ile275Thr) rs142906652 0.00071
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr) rs140601319 0.00070
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_212482.4(FN1):c.5435-7T>C rs202045892 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_003072.5(SMARCA4):c.223-5C>T rs376775933 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_000179.3(MSH6):c.663A>C (p.Glu221Asp) rs41557217 0.00063
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_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927 0.00063
NM_002691.4(POLD1):c.455C>T (p.Ala152Val) rs41563714 0.00061
NM_201384.3(PLEC):c.9049C>T (p.Arg3017Trp) rs201041716 0.00061
NM_000264.5(PTCH1):c.4324C>T (p.Arg1442Trp) rs143464326 0.00060
NM_000123.4(ERCC5):c.56C>T (p.Pro19Leu) rs34291397 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_000136.3(FANCC):c.1329+212C>T rs41281200 0.00058
NM_000222.3(KIT):c.1195G>A (p.Val399Ile) rs143707288 0.00058
NM_000264.5(PTCH1):c.3487G>A (p.Gly1163Ser) rs113663584 0.00058
NM_004168.4(SDHA):c.133G>A (p.Ala45Thr) rs140736646 0.00058
NM_004329.3(BMPR1A):c.1419T>G (p.Val473=) rs145756629 0.00058
NM_144997.7(FLCN):c.871+47G>A rs142934950 0.00058
NM_000057.4(BLM):c.968A>G (p.Lys323Arg) rs146504061 0.00056
NM_024675.4(PALB2):c.2851T>C (p.Ser951Pro) rs149522412 0.00056
NM_000321.3(RB1):c.1966C>T (p.Arg656Trp) rs142509759 0.00055
NM_002291.3(LAMB1):c.3038G>A (p.Arg1013Gln) rs141390544 0.00055
NM_016239.4(MYO15A):c.7984C>G (p.Leu2662Val) rs200930743 0.00054
NM_032444.4(SLX4):c.2975G>A (p.Gly992Glu) rs139287784 0.00054
NM_024675.4(PALB2):c.2749-18C>T rs182194007 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_000384.3(APOB):c.10672C>T (p.Arg3558Cys) rs12713559 0.00050
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe) rs200078204 0.00050
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln) rs137853242 0.00050
NM_000551.4(VHL):c.463+8C>T rs5030834 0.00050
NM_005359.6(SMAD4):c.880A>G (p.Met294Val) rs7238500 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_000038.6(APC):c.295C>T (p.Arg99Trp) rs139196838 0.00048
NM_000135.4(FANCA):c.3427C>G (p.Leu1143Val) rs61753269 0.00048
NM_001040108.2(MLH3):c.1637G>T (p.Arg546Ile) rs55725216 0.00048
NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys) rs138089183 0.00048
NM_004484.4(GPC3):c.660C>T (p.Ser220=) rs138450923 0.00048
NM_145207.3(AFG2A):c.1159C>T (p.Pro387Ser) rs201751275 0.00048
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_001005498.4(RHBDF2):c.1486A>G (p.Lys496Glu) rs150723002 0.00046
NM_004304.5(ALK):c.4255G>A (p.Glu1419Lys) rs56181542 0.00046
NM_024642.5(GALNT12):c.889C>T (p.Arg297Trp) rs149726976 0.00046
NM_001048174.2(MUTYH):c.914-9C>T rs3219488 0.00045
NM_001270508.2(TNFAIP3):c.2364G>A (p.Met788Ile) rs143002189 0.00044
NM_002485.5(NBN):c.1720T>A (p.Leu574Ile) rs142334798 0.00044
NM_023110.3(FGFR1):c.1368G>T (p.Met456Ile) rs200776757 0.00044
NM_177438.3(DICER1):c.438+11T>C rs376038413 0.00044
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) rs140856217 0.00043
NM_000222.3(KIT):c.200C>G (p.Thr67Ser) rs144933028 0.00043
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_032043.3(BRIP1):c.2220G>T (p.Gln740His) rs45589637 0.00041
NM_001365951.3(KIF1B):c.2618C>T (p.Thr873Ile) rs121908162 0.00040
NM_002691.4(POLD1):c.3068-14C>T rs3218758 0.00040
NM_023110.3(FGFR1):c.899T>C (p.Ile300Thr) rs121909633 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_015474.4(SAMHD1):c.1593G>C (p.Arg531Ser) rs145735112 0.00038
NM_002878.4(RAD51D):c.26G>C (p.Cys9Ser) rs140825795 0.00037
NM_000264.5(PTCH1):c.4325G>A (p.Arg1442Gln) rs56023271 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_003977.4(AIP):c.26G>A (p.Arg9Gln) rs139459091 0.00035
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_000251.3(MSH2):c.435T>G (p.Ile145Met) rs63750124 0.00031
NM_001077350.3(NPRL3):c.1268C>T (p.Pro423Leu) rs200792895 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_021930.6(RINT1):c.766C>G (p.Arg256Gly) rs144994876 0.00030
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp) rs150624408 0.00030
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys) rs2229022 0.00029
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His) rs201666889 0.00029
NM_000179.3(MSH6):c.-18G>T rs199913053 0.00029
NM_000245.4(MET):c.406G>A (p.Val136Ile) rs199701987 0.00029
NM_000268.4(NF2):c.1340+8G>T rs370604189 0.00029
NM_000548.5(TSC2):c.5116C>T (p.Arg1706Cys) rs45517391 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_004260.4(RECQL4):c.2967G>A (p.Met989Ile) rs200018416 0.00029
NM_004448.4(ERBB2):c.1738-5C>G rs749633839 0.00029
NM_178857.6(RP1L1):c.609+2T>C rs199958805 0.00029
NM_000075.4(CDK4):c.625C>T (p.Arg209Cys) rs140644696 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_080916.3(DGUOK):c.199G>A (p.Val67Ile) rs62641679 0.00028
NM_000038.6(APC):c.2593C>T (p.Pro865Ser) rs192620988 0.00027
NM_000123.4(ERCC5):c.2800G>A (p.Glu934Lys) rs201274165 0.00027
NM_000179.3(MSH6):c.3217C>T (p.Pro1073Ser) rs142254875 0.00027
NM_000400.4(ERCC2):c.601C>T (p.His201Tyr) rs1799792 0.00027
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser) rs104895032 0.00027
NM_177438.3(DICER1):c.1124C>G (p.Pro375Arg) rs148758903 0.00027
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_001365951.3(KIF1B):c.2115+6835C>T rs140733878 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_030662.4(MAP2K2):c.678C>T (p.Ser226=) rs200874968 0.00026
NM_144997.7(FLCN):c.268G>T (p.Ala90Ser) rs141140415 0.00026
NM_000051.4(ATM):c.4362A>C (p.Lys1454Asn) rs148993589 0.00025
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr) rs150757822 0.00025
NM_005236.3(ERCC4):c.973+11A>T rs185779788 0.00025
NM_020937.4(FANCM):c.4366C>T (p.Arg1456Cys) rs200360968 0.00025
NM_021930.6(RINT1):c.782C>T (p.Pro261Leu) rs199535472 0.00025
NM_000038.6(APC):c.7036C>T (p.Pro2346Ser) rs200756935 0.00024
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_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_024426.6(WT1):c.662-6C>A rs372418954 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_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098 0.00023
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_001365951.3(KIF1B):c.4211T>C (p.Val1404Ala) rs200561798 0.00022
NM_002439.5(MSH3):c.2438A>G (p.Lys813Arg) rs150446804 0.00022
NM_000136.3(FANCC):c.29G>A (p.Cys10Tyr) rs143152201 0.00021
NM_000264.5(PTCH1):c.3919C>T (p.Pro1307Ser) rs574880967 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_001220.5(CAMK2B):c.1466C>T (p.Pro489Leu) rs555460132 0.00019
NM_003072.5(SMARCA4):c.1076G>A (p.Arg359Gln) rs148530368 0.00019
NM_004562.3(PRKN):c.1372A>C (p.Met458Leu) rs182893847 0.00019
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) rs139366548 0.00019
NM_020937.4(FANCM):c.4627C>T (p.Leu1543Phe) rs139536545 0.00019
NM_144997.7(FLCN):c.592G>A (p.Asp198Asn) rs200168437 0.00019
NM_000546.6(TP53):c.935C>G (p.Thr312Ser) rs145151284 0.00018
NM_002691.4(POLD1):c.2017G>A (p.Glu673Lys) rs61751955 0.00018
NM_024426.6(WT1):c.193G>A (p.Gly65Arg) rs374404615 0.00018
NM_000179.3(MSH6):c.3961A>G (p.Arg1321Gly) rs41295278 0.00017
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met) rs587780046 0.00017
NM_016169.4(SUFU):c.839G>A (p.Arg280Gln) rs145704867 0.00017
NM_000548.5(TSC2):c.1244C>T (p.Ala415Val) rs374936223 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_021930.6(RINT1):c.41C>T (p.Pro14Leu) rs201898612 0.00016
NM_000337.6(SGCD):c.92G>A (p.Arg31Gln) rs200476861 0.00015
NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn) rs45509392 0.00015
NM_005591.4(MRE11):c.1504C>T (p.Arg502Cys) rs186333183 0.00015
NM_016169.4(SUFU):c.1058C>T (p.Thr353Met) rs137880855 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_001330360.2(POLA1):c.3090+6A>G rs370956790 0.00014
NM_001370259.2(MEN1):c.1351-4C>T rs764408631 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_032444.4(SLX4):c.832C>T (p.Arg278Trp) rs141597706 0.00014
NM_000075.4(CDK4):c.122A>G (p.Asn41Ser) rs144890720 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_001369369.1(FOXN1):c.1618G>A (p.Asp540Asn) rs181483148 0.00013
NM_002480.3(PPP1R12A):c.2459G>A (p.Arg820Lys) rs372736855 0.00013
NM_005431.2(XRCC2):c.620A>G (p.Glu207Gly) rs61762969 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_032977.4(CASP10):c.1297G>A (p.Glu433Lys) rs200540853 0.00013
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_000535.7(PMS2):c.1559C>T (p.Ala520Val) rs63751300 0.00012
NM_000548.5(TSC2):c.4094C>T (p.Ser1365Leu) rs377123510 0.00012
NM_002439.5(MSH3):c.562C>T (p.Arg188Cys) rs147289289 0.00012
NM_004360.5(CDH1):c.304G>A (p.Ala102Thr) rs368492235 0.00012
NM_000038.6(APC):c.3875C>T (p.Thr1292Met) rs371113837 0.00011
NM_000135.4(FANCA):c.3637C>G (p.Pro1213Ala) rs200713354 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_004360.5(CDH1):c.2512A>G (p.Ser838Gly) rs121964872 0.00011
NM_004656.4(BAP1):c.1946G>A (p.Cys649Tyr) rs151308667 0.00011
NM_006231.4(POLE):c.5812-11_5812-10del rs745976640 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_177438.3(DICER1):c.4616C>T (p.Thr1539Met) rs747901058 0.00011
NM_000038.6(APC):c.388A>G (p.Ser130Gly) rs150973053 0.00010
NM_000179.3(MSH6):c.1063G>A (p.Gly355Ser) rs587778531 0.00010
NM_000179.3(MSH6):c.3245C>T (p.Pro1082Leu) rs191109849 0.00010
NM_006231.4(POLE):c.6531+6G>T rs774747998 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.1730G>A (p.Arg577His) rs376220212 0.00009
NM_000264.5(PTCH1):c.3816C>T (p.Pro1272=) rs369295226 0.00009
NM_000400.4(ERCC2):c.2195A>G (p.Asp732Gly) rs201828535 0.00009
NM_000465.4(BARD1):c.1694G>A (p.Arg565His) rs146946984 0.00009
NM_000545.8(HNF1A):c.1309+102A>T rs113111047 0.00009
NM_000548.5(TSC2):c.5142G>A (p.Gln1714=) rs147147042 0.00009
NM_001365951.3(KIF1B):c.899A>G (p.Lys300Arg) rs373698346 0.00009
NM_001754.5(RUNX1):c.668A>G (p.Glu223Gly) rs780999703 0.00009
NM_004064.5(CDKN1B):c.54C>T (p.Ala18=) rs151027466 0.00009
NM_007194.4(CHEK2):c.556A>C (p.Asn186His) rs146198085 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_000179.3(MSH6):c.1474A>G (p.Met492Val) rs61754783 0.00008
NM_000222.3(KIT):c.2867G>A (p.Arg956Gln) rs139694927 0.00008
NM_000264.5(PTCH1):c.4302C>T (p.Asp1434=) rs201357130 0.00008
NM_000400.4(ERCC2):c.428G>A (p.Arg143Gln) rs150000483 0.00008
NM_000545.8(HNF1A):c.142G>A (p.Glu48Lys) rs772222326 0.00008
NM_000051.4(ATM):c.2021A>G (p.His674Arg) rs201762714 0.00007
NM_000059.4(BRCA2):c.5635G>A (p.Glu1879Lys) rs55996097 0.00007
NM_000179.3(MSH6):c.1054G>A (p.Val352Ile) rs730881787 0.00007
NM_000222.3(KIT):c.297C>T (p.Asn99=) rs768599276 0.00007
NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg) rs63750527 0.00007
NM_000251.3(MSH2):c.4G>A (p.Ala2Thr) rs63750466 0.00007
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp) rs199739859 0.00007
NM_001018113.3(FANCB):c.127T>A (p.Leu43Ile) rs771007866 0.00007
NM_001370259.2(MEN1):c.1185+12G>A rs373609932 0.00007
NM_004628.5(XPC):c.572G>A (p.Arg191Gln) rs575874780 0.00007
NM_024642.5(GALNT12):c.608A>G (p.Asn203Ser) rs375844934 0.00007
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.6315G>C (p.Arg2105Ser) rs587780632 0.00006
NM_000059.4(BRCA2):c.7505G>A (p.Arg2502His) rs56070345 0.00006
NM_000059.4(BRCA2):c.831T>G (p.Asn277Lys) rs28897705 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_000249.4(MLH1):c.1013A>G (p.Asn338Ser) rs63751467 0.00006
NM_000400.4(ERCC2):c.5+6A>G rs751637822 0.00006
NM_000548.5(TSC2):c.3100G>A (p.Val1034Ile) rs146745242 0.00006
NM_001291303.3(FAT4):c.12499G>A (p.Ala4167Thr) rs369432764 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_001374828.1(ARID1B):c.5672C>T (p.Pro1891Leu) rs142466273 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_006231.4(POLE):c.2468+12C>T rs776938447 0.00006
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu) rs587780180 0.00006
NM_032043.3(BRIP1):c.2233G>A (p.Ala745Thr) rs587780235 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_000051.4(ATM):c.2476A>C (p.Ile826Leu) rs587782397 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_000179.3(MSH6):c.1857A>C (p.Glu619Asp) rs63751121 0.00005
NM_000179.3(MSH6):c.3425C>T (p.Thr1142Met) rs267608089 0.00005
NM_000264.5(PTCH1):c.2437C>G (p.Pro813Ala) rs45579032 0.00005
NM_000400.4(ERCC2):c.1237+20T>A rs758988777 0.00005
NM_000548.5(TSC2):c.336+14C>T rs570065416 0.00005
NM_000719.7(CACNA1C):c.1673C>T (p.Thr558Met) rs572234918 0.00005
NM_001018115.3(FANCD2):c.4052C>T (p.Thr1351Met) rs775898191 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_004360.5(CDH1):c.2343A>T (p.Glu781Asp) rs587780119 0.00005
NM_004360.5(CDH1):c.2387G>A (p.Arg796Gln) rs587782549 0.00005
NM_005629.4(SLC6A8):c.1646A>C (p.Asn549Thr) rs782790088 0.00005
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_000059.4(BRCA2):c.887A>G (p.Tyr296Cys) rs45457795 0.00004
NM_000264.5(PTCH1):c.1067+5G>C rs372657547 0.00004
NM_000548.5(TSC2):c.3365G>A (p.Arg1122His) rs369536711 0.00004
NM_001048174.2(MUTYH):c.305-6C>T rs376600220 0.00004
NM_001134407.3(GRIN2A):c.547T>A (p.Phe183Ile) rs587780353 0.00004
NM_004360.5(CDH1):c.1273G>A (p.Val425Ile) rs570930882 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_006231.4(POLE):c.4952+17C>T rs750268044 0.00004
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp) rs121908705 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_020975.6(RET):c.322A>C (p.Lys108Gln) rs567877611 0.00004
NM_022455.5(NSD1):c.3178C>T (p.Pro1060Ser) rs188847458 0.00004
NM_172362.3(KCNH1):c.544T>A (p.Ser182Thr) rs749800577 0.00004
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_000059.4(BRCA2):c.4301A>T (p.Lys1434Ile) rs397507714 0.00003
NM_000094.4(COL7A1):c.2045G>A (p.Arg682Gln) rs772900092 0.00003
NM_000094.4(COL7A1):c.4445G>A (p.Arg1482Gln) rs570707807 0.00003
NM_000122.2(ERCC3):c.658-7C>G rs200361738 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_000251.3(MSH2):c.1510+11G>C rs370675562 0.00003
NM_000368.5(TSC1):c.568C>T (p.Arg190Cys) rs118203400 0.00003
NM_000535.7(PMS2):c.2288A>G (p.Glu763Gly) rs587780052 0.00003
NM_000548.5(TSC2):c.538C>G (p.Leu180Val) rs45485591 0.00003
NM_004304.5(ALK):c.1787T>C (p.Met596Thr) rs754810505 0.00003
NM_004360.5(CDH1):c.1417G>A (p.Val473Ile) rs36087757 0.00003
NM_006231.4(POLE):c.2027-12C>G rs767811987 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_024642.5(GALNT12):c.1703A>G (p.Asn568Ser) rs749874941 0.00003
NM_198253.3(TERT):c.2971-10G>T rs878855303 0.00003
NM_000059.4(BRCA2):c.3962A>G (p.Asp1321Gly) rs80358645 0.00002
NM_000245.4(MET):c.1640G>A (p.Arg547Gln) rs761951444 0.00002
NM_000251.3(MSH2):c.2178G>C (p.Met726Ile) rs587782396 0.00002
NM_000268.4(NF2):c.599+3G>A rs768301915 0.00002
NM_000400.4(ERCC2):c.1665+17C>A rs774329591 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_001127511.3(APC):c.166-28443T>A rs751998391 0.00002
NM_002439.5(MSH3):c.359-17C>G rs761027175 0.00002
NM_003977.4(AIP):c.822C>A (p.Ala274=) rs145142121 0.00002
NM_004360.5(CDH1):c.188G>A (p.Arg63Gln) rs587780117 0.00002
NM_006767.4(LZTR1):c.264-9G>T rs377233316 0.00002
NM_007294.4(BRCA1):c.5176A>G (p.Arg1726Gly) rs80357501 0.00002
NM_017841.4(SDHAF2):c.98G>A (p.Arg33His) rs777442412 0.00002
NM_033360.4(KRAS):c.249C>T (p.Ala83=) rs751117590 0.00002
NM_000038.6(APC):c.3323A>G (p.Asn1108Ser) rs151286353 0.00001
NM_000038.6(APC):c.8057T>C (p.Val2686Ala) rs757901425 0.00001
NM_000051.4(ATM):c.5488A>G (p.Met1830Val) rs587781622 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.7928C>G (p.Ala2643Gly) rs80359018 0.00001
NM_000059.4(BRCA2):c.8941G>A (p.Glu2981Lys) rs139052578 0.00001
NM_000059.4(BRCA2):c.9242T>C (p.Val3081Ala) rs80359189 0.00001
NM_000093.5(COL5A1):c.2593-3C>T rs199895142 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.361C>T (p.Arg121Cys) rs763593669 0.00001
NM_000179.3(MSH6):c.713C>A (p.Ser238Tyr) rs587782510 0.00001
NM_000249.4(MLH1):c.1103C>T (p.Ser368Leu) rs201673334 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_000368.5(TSC1):c.3107G>A (p.Gly1036Glu) rs774196458 0.00001
NM_000368.5(TSC1):c.947G>A (p.Arg316Gln) rs375956049 0.00001
NM_000548.5(TSC2):c.213G>T (p.Lys71Asn) rs766200310 0.00001
NM_001042492.3(NF1):c.8378-4C>T rs587782700 0.00001
NM_001111125.3(IQSEC2):c.419C>T (p.Pro140Leu) rs1372592100 0.00001
NM_001190274.2(FBXO11):c.146C>A (p.Pro49Gln) rs1257345739 0.00001
NM_001282531.3(ADNP):c.392C>T (p.Pro131Leu) rs746641833 0.00001
NM_004006.3(DMD):c.7892G>A (p.Arg2631His) rs748007790 0.00001
NM_004628.5(XPC):c.900T>C (p.His300=) rs929649978 0.00001
NM_005591.4(MRE11):c.1074A>G (p.Pro358=) rs876659934 0.00001
NM_007194.4(CHEK2):c.73G>A (p.Val25Ile) rs142243299 0.00001
NM_014239.4(EIF2B2):c.165G>A (p.Gly55=) rs1365390122 0.00001
NM_014727.3(KMT2B):c.5908C>A (p.Pro1970Thr) rs991657581 0.00001
NM_015570.4(AUTS2):c.1999G>A (p.Val667Ile) rs959384891 0.00001
NM_021930.6(RINT1):c.61G>A (p.Asp21Asn) rs758536777 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_024675.4(PALB2):c.1610C>T (p.Ser537Leu) rs142103232 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_000038.6(APC):c.6354TGC[5] (p.Ala2122dup) rs587780602
NM_000038.6(APC):c.6907G>A (p.Gly2303Arg) rs544549596
NM_000051.4(ATM):c.6860G>A (p.Gly2287Glu) rs1800061
NM_000051.4(ATM):c.8763G>A (p.Thr2921=) rs781528244
NM_000059.4(BRCA2):c.2803G>C (p.Asp935His) rs28897716
NM_000059.4(BRCA2):c.4928T>C (p.Val1643Ala) rs28897731
NM_000059.4(BRCA2):c.8633-4T>A rs397507407
NM_000059.4(BRCA2):c.865A>G (p.Asn289Asp) rs766173
NM_000059.4(BRCA2):c.9649-6dup rs276174929
NM_000179.3(MSH6):c.3260C>A (p.Pro1087His) rs63750753
NM_000179.3(MSH6):c.3758T>A (p.Val1253Glu) rs202066386
NM_000186.4(CFH):c.2783-3del rs748791414
NM_000249.4(MLH1):c.1209C>G (p.Pro403=) rs1575535878
NM_000249.4(MLH1):c.1268G>A (p.Arg423Lys) rs370687064
NM_000251.3(MSH2):c.1276+23del rs587779081
NM_000400.4(ERCC2):c.2191-11G>A rs1568530396
NM_000492.4(CFTR):c.1251C>A (p.Asn417Lys) rs4727853
NM_000548.5(TSC2):c.1577G>A (p.Ser526Asn) rs376573446
NM_000548.5(TSC2):c.3358G>C (p.Val1120Leu) rs1053311636
NM_000791.4(DHFR):c.-406CGCTGCAGC[3] rs758595508
NM_001018115.3(FANCD2):c.2022-5C>T rs4019784
NM_001190274.2(FBXO11):c.149AGC[8] (p.Gln56dup) rs746953076
NM_001244008.2(KIF1A):c.2721GGA[12] (p.Glu917dup) rs10594016
NM_001257281.2(DIS3L2):c.1651_1652insGGG (p.Glu550_Ala551insGly) rs141560952
NM_001270.4(CHD1):c.666AGA[1] (p.Glu223del) rs761944491
NM_001330260.2(SCN8A):c.2726A>G (p.Asn909Ser) rs776493877
NM_001903.5(CTNNA1):c.2434-5C>G rs369052669
NM_001933.5(DLST):c.147-17G>C rs201278080
NM_001933.5(DLST):c.976-7C>G rs200530358
NM_001940.4(ATN1):c.1464GCA[10] (p.Gln498_Gln502del) rs60216939
NM_002354.3(EPCAM):c.267G>C (p.Gln89His) rs146480420
NM_004260.4(RECQL4):c.3062G>A (p.Arg1021Gln) rs34666647
NM_004360.5(CDH1):c.531+17T>C rs1057520562
NM_004629.2(FANCG):c.176-10G>A rs376273679
NM_004655.4(AXIN2):c.1404CCA[7] (p.His474dup) rs570443161
NM_005359.6(SMAD4):c.479A>G (p.Asp160Gly) rs1555685629
NM_005732.4(RAD50):c.3877_3879dup (p.Ile1293dup) rs765370709
NM_006005.3(WFS1):c.2027G>A (p.Arg676His) rs143055296
NM_006296.7(VRK2):c.*102_*105dup rs759217526
NM_007294.4(BRCA1):c.5306A>G (p.Tyr1769Cys) rs397509257
NM_022455.5(NSD1):c.1338A>T (p.Ser446=) rs2149842674
NM_022455.5(NSD1):c.5781C>G (p.Ala1927=) rs61749654
NM_032444.4(SLX4):c.421G>T (p.Gly141Trp) rs137976282
NM_032888.4(COL27A1):c.1727G>T (p.Ser576Ile) rs148019836
NM_177438.3(DICER1):c.2651-14T>G rs753857234
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del) rs377639087
NM_207122.2(EXT2):c.520A>C (p.Met174Leu) rs111589746

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