ClinVar Miner

List of variants studied for Hereditary cancer-predisposing syndrome by Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.

Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 565
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HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.5465T>A (p.Val1822Asp) rs459552 0.82099
NM_000038.6(APC):c.5034G>A (p.Gly1678=) rs42427 0.59504
NM_000038.6(APC):c.5880G>A (p.Pro1960=) rs465899 0.59308
NM_000038.6(APC):c.5268T>G (p.Ser1756=) rs866006 0.59230
NM_000038.6(APC):c.4479G>A (p.Thr1493=) rs41115 0.59177
NM_000038.6(APC):c.1635G>A (p.Ala545=) rs351771 0.59150
NM_004655.4(AXIN2):c.1386C>T (p.Pro462=) rs1133683 0.52439
NM_000038.6(APC):c.1458T>C (p.Tyr486=) rs2229992 0.46792
NM_017763.6(RNF43):c.139A>G (p.Ile47Val) rs3744093 0.34051
NM_001048174.2(MUTYH):c.930G>C (p.Gln310His) rs3219489 0.26720
NM_000368.5(TSC1):c.965T>C (p.Met322Thr) rs1073123 0.15387
NM_000051.4(ATM):c.378T>A (p.Asp126Glu) rs2234997 0.06244
NM_001048174.2(MUTYH):c.22G>A (p.Val8Met) rs3219484 0.04794
NM_000051.4(ATM):c.4578C>T (p.Pro1526=) rs1800889 0.03196
NM_000038.6(APC):c.7704A>G (p.Gly2568=) rs35043160 0.02992
NM_000051.4(ATM):c.1254A>G (p.Gln418=) rs4987943 0.02542
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met) rs74902811 0.02492
NM_000051.4(ATM):c.8786+8A>C rs4986839 0.02488
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr) rs2020873 0.02345
NM_024675.4(PALB2):c.629C>T (p.Pro210Leu) rs57605939 0.02101
NM_000251.3(MSH2):c.573C>T (p.Leu191=) rs1800151 0.01972
NM_024675.4(PALB2):c.2993G>A (p.Gly998Glu) rs45551636 0.01717
NM_000251.3(MSH2):c.965G>A (p.Gly322Asp) rs4987188 0.01714
NM_000038.6(APC):c.7504G>A (p.Gly2502Ser) rs2229995 0.01693
NM_000546.6(TP53):c.993+12T>C rs1800899 0.01614
NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser) rs45494092 0.01508
NM_000251.3(MSH2):c.1077-10T>C rs17224360 0.01428
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) rs33935154 0.01412
NM_000051.4(ATM):c.3118A>G (p.Met1040Val) rs3092857 0.01233
NM_000038.6(APC):c.3732A>G (p.Gln1244=) rs74380081 0.01174
NM_000038.6(APC):c.1695A>G (p.Glu565=) rs77921116 0.01170
NM_000249.4(MLH1):c.474C>T (p.Asn158=) rs4647256 0.01161
NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe) rs1800058 0.01150
NM_000038.6(APC):c.7201C>T (p.Leu2401=) rs2229994 0.01134
NM_000251.3(MSH2):c.2766T>C (p.Phe922=) rs55859129 0.01118
NM_001048174.2(MUTYH):c.1517G>A (p.Arg506Gln) rs3219497 0.01092
NM_007294.4(BRCA1):c.212+23T>A rs8176128 0.01018
NM_001048174.2(MUTYH):c.1460C>T (p.Ser487Phe) rs140118273 0.00997
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113 0.00964
NM_024675.4(PALB2):c.925A>G (p.Ile309Val) rs3809683 0.00919
NM_000038.6(APC):c.2608C>T (p.Pro870Ser) rs33974176 0.00917
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu) rs1800056 0.00861
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123 0.00861
NM_000546.6(TP53):c.*1175A>C rs78378222 0.00849
NM_000051.4(ATM):c.8419-19A>G rs12279930 0.00824
NM_000249.4(MLH1):c.637G>A (p.Val213Met) rs2308317 0.00818
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=) rs36060526 0.00793
NM_000059.4(BRCA2):c.7017G>C (p.Lys2339Asn) rs45574331 0.00792
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831 0.00792
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro) rs4986761 0.00782
NM_000059.4(BRCA2):c.1788T>C (p.Asp596=) rs11571642 0.00768
NM_000059.4(BRCA2):c.516+21A>T rs11571622 0.00765
NM_000465.4(BARD1):c.1972C>T (p.Arg658Cys) rs3738888 0.00736
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) rs1800054 0.00712
NM_002485.5(NBN):c.1489A>G (p.Thr497Ala) rs3026268 0.00711
NM_000038.6(APC):c.4326T>A (p.Pro1442=) rs67622085 0.00705
NM_000059.4(BRCA2):c.517-19C>T rs11571623 0.00693
NM_032043.3(BRIP1):c.2098-22T>C rs114505031 0.00684
NM_000038.6(APC):c.5265G>A (p.Ala1755=) rs34506289 0.00675
NM_000051.4(ATM):c.6235G>A (p.Val2079Ile) rs1800060 0.00649
NM_000051.4(ATM):c.3383A>G (p.Gln1128Arg) rs2229020 0.00636
NM_000455.5(STK11):c.369G>A (p.Gln123=) rs140112347 0.00636
NM_000455.4(STK11):c.*365C>G rs535975204 0.00633
NM_000051.4(ATM):c.5793T>C (p.Ala1931=) rs3092910 0.00608
NM_001048174.2(MUTYH):c.1347G>C (p.Thr449=) rs74318065 0.00596
NM_000038.6(APC):c.1959G>A (p.Arg653=) rs72541809 0.00583
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166 0.00570
NM_000179.3(MSH6):c.1186C>G (p.Leu396Val) rs2020908 0.00565
NM_001048174.2(MUTYH):c.421-4A>G rs201678305 0.00541
NM_000059.4(BRCA2):c.-11C>T rs76874770 0.00539
NM_024675.4(PALB2):c.53A>G (p.Lys18Arg) rs138789658 0.00530
NM_000051.4(ATM):c.6088A>G (p.Ile2030Val) rs145847315 0.00517
NM_000038.6(APC):c.1958+8T>C rs62626346 0.00510
NM_000314.6(PTEN):c.-1059C>G rs144620057 0.00509
NM_000038.6(APC):c.5250C>G (p.Val1750=) rs2229997 0.00497
NM_000251.3(MSH2):c.984C>T (p.Ala328=) rs4987189 0.00495
NM_000251.3(MSH2):c.1666T>C (p.Leu556=) rs61756466 0.00471
NM_000465.4(BARD1):c.1738G>A (p.Glu580Lys) rs35306212 0.00455
NM_024675.4(PALB2):c.2794G>A (p.Val932Met) rs45624036 0.00449
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala) rs2020912 0.00448
NM_001127511.3(APC):c.166-28452G>C rs115242894 0.00443
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val) rs1801673 0.00441
NM_000179.3(MSH6):c.457+13A>G rs1800933 0.00434
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922 0.00431
NM_000051.4(ATM):c.6437G>C (p.Ser2146Thr) rs56815840 0.00424
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu) rs35001569 0.00399
NM_000249.4(MLH1):c.307-29C>A rs139620056 0.00398
NM_004360.5(CDH1):c.532-18C>T rs200673941 0.00398
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg) rs55953736 0.00396
NM_000535.7(PMS2):c.1609G>A (p.Glu537Lys) rs115052399 0.00370
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys) rs4988345 0.00363
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys) rs72541816 0.00358
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu) rs59912467 0.00348
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_000251.3(MSH2):c.339G>A (p.Lys113=) rs35898375 0.00313
NM_024675.4(PALB2):c.1572A>G (p.Ser524=) rs45472400 0.00312
NM_024675.4(PALB2):c.1419A>C (p.Pro473=) rs62625275 0.00309
NM_000038.6(APC):c.3471G>A (p.Glu1157=) rs143927847 0.00308
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val) rs55907433 0.00297
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724 0.00295
NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys) rs11571657 0.00288
NM_000051.4(ATM):c.3993+5G>T rs3092842 0.00287
NM_000038.6(APC):c.3165A>T (p.Ile1055=) rs61734287 0.00286
NM_032043.3(BRIP1):c.2097+7G>A rs4988352 0.00271
NM_002485.5(NBN):c.381T>C (p.Ala127=) rs61754795 0.00266
NM_000051.4(ATM):c.2362A>C (p.Ser788Arg) rs641252 0.00265
NM_004360.5(CDH1):c.324A>G (p.Arg108=) rs116542018 0.00255
NM_000179.3(MSH6):c.3911G>A (p.Arg1304Lys) rs34625968 0.00253
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser) rs143638171 0.00250
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749 0.00239
NM_000465.4(BARD1):c.1977A>G (p.Arg659=) rs147215925 0.00230
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=) rs1799952 0.00228
NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889 0.00220
NM_000038.6(APC):c.705A>G (p.Leu235=) rs147036141 0.00213
NM_000455.5(STK11):c.464+9G>A rs376313955 0.00208
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser) rs147241704 0.00207
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) rs34767364 0.00206
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu) rs17883862 0.00201
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro) rs4988347 0.00197
NM_032043.3(BRIP1):c.2937A>G (p.Lys979=) rs75091137 0.00194
NM_024675.4(PALB2):c.2256A>G (p.Gly752=) rs147120218 0.00193
NM_001042492.3(NF1):c.2553C>T (p.Cys851=) rs2230852 0.00190
NM_001042492.3(NF1):c.7531G>C (p.Val2511Leu) rs2230850 0.00189
NM_000249.4(MLH1):c.790+10A>G rs182733777 0.00188
NM_000051.4(ATM):c.1229T>C (p.Val410Ala) rs56128736 0.00186
NM_000251.3(MSH2):c.23C>T (p.Thr8Met) rs17217716 0.00184
NM_000546.6(TP53):c.782+17C>T rs17880172 0.00184
NM_000535.7(PMS2):c.23+10G>C rs192027828 0.00182
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_032043.3(BRIP1):c.2286T>C (p.Arg762=) rs61754141 0.00173
NM_000051.4(ATM):c.7788+8G>T rs112775908 0.00165
NM_000251.3(MSH2):c.1277-8T>C rs145400590 0.00159
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747 0.00158
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn) rs142155101 0.00153
NM_000455.5(STK11):c.*460G>A rs558582150 0.00147
NM_004360.5(CDH1):c.2440-6C>G rs139757930 0.00145
NM_000038.6(APC):c.6921G>A (p.Ser2307=) rs2229993 0.00143
NM_000249.4(MLH1):c.2146G>A (p.Val716Met) rs35831931 0.00143
NM_000251.3(MSH2):c.1387-8G>T rs187525243 0.00143
NM_024675.4(PALB2):c.2742C>T (p.Phe914=) rs115759702 0.00143
NM_000051.4(ATM):c.1066-6T>G rs201686625 0.00139
NM_000251.3(MSH2):c.1737A>G (p.Lys579=) rs61756467 0.00138
NM_000059.4(BRCA2):c.6821G>T (p.Gly2274Val) rs55712212 0.00126
NM_000051.4(ATM):c.4473C>T (p.Phe1491=) rs4988008 0.00125
NM_000455.5(STK11):c.598-8C>T rs373610101 0.00123
NM_000546.6(TP53):c.139C>T (p.Pro47Ser) rs1800371 0.00123
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192 0.00121
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg) rs28997570 0.00113
NM_007294.4(BRCA1):c.3083G>A (p.Arg1028His) rs80357459 0.00106
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406 0.00103
NM_000059.4(BRCA2):c.7805+23G>A rs113653200 0.00103
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu) rs34231402 0.00096
NM_001128425.2(MUTYH):c.36+214G>C rs568514678 0.00096
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=) rs138186428 0.00089
NM_000038.6(APC):c.6821C>T (p.Ala2274Val) rs34919187 0.00088
NM_001042492.3(NF1):c.3468C>T (p.Asn1156=) rs147955381 0.00083
NM_000051.4(ATM):c.334G>A (p.Ala112Thr) rs146382972 0.00080
NM_000535.7(PMS2):c.2187C>G (p.Leu729=) rs373630535 0.00077
NM_032043.3(BRIP1):c.3378A>C (p.Glu1126Asp) rs145855459 0.00076
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro) rs141137543 0.00075
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325 0.00072
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu) rs2235006 0.00071
NM_007194.4(CHEK2):c.320-5T>A rs121908700 0.00070
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415 0.00069
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005 0.00067
NM_001042492.3(NF1):c.7595C>T (p.Ala2532Val) rs148154172 0.00066
NM_007294.4(BRCA1):c.3302G>A (p.Ser1101Asn) rs41293447 0.00064
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr) rs142358238 0.00062
NM_000455.5(STK11):c.945G>A (p.Pro315=) rs376329042 0.00060
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His) rs28897677 0.00060
NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys) rs63750897 0.00059
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala) rs146176004 0.00059
NM_001042492.3(NF1):c.2033C>T (p.Pro678Leu) rs17881753 0.00058
NM_024675.4(PALB2):c.2851T>C (p.Ser951Pro) rs149522412 0.00058
NM_004360.5(CDH1):c.2439+10C>T rs35236080 0.00057
NM_000051.4(ATM):c.7313C>T (p.Thr2438Ile) rs147604227 0.00056
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712 0.00054
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941 0.00053
NM_000059.4(BRCA2):c.7435+6G>A rs81002852 0.00053
NM_000251.3(MSH2):c.1563T>C (p.Tyr521=) rs63750330 0.00053
NM_001042492.3(NF1):c.7461A>G (p.Thr2487=) rs149924365 0.00052
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe) rs200078204 0.00051
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927 0.00051
NM_000465.4(BARD1):c.144G>A (p.Leu48=) rs151168457 0.00050
NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744 0.00048
NM_000179.3(MSH6):c.2667G>T (p.Gln889His) rs149945495 0.00048
NM_000535.7(PMS2):c.1708A>G (p.Asn570Asp) rs115670442 0.00048
NM_032043.3(BRIP1):c.317G>A (p.Arg106His) rs143615668 0.00048
NM_000051.4(ATM):c.1986T>C (p.Phe662=) rs1800055 0.00046
NM_000251.3(MSH2):c.815C>T (p.Ala272Val) rs34136999 0.00046
NM_007294.4(BRCA1):c.2566T>C (p.Tyr856His) rs80356892 0.00046
NM_002485.5(NBN):c.-26G>A rs201392451 0.00045
NM_000051.4(ATM):c.3342G>A (p.Lys1114=) rs138393322 0.00044
NM_000038.6(APC):c.2322C>T (p.Asp774=) rs145792879 0.00041
NM_000249.4(MLH1):c.702G>A (p.Glu234=) rs35908749 0.00041
NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met) rs144079536 0.00041
NM_000249.4(MLH1):c.977T>C (p.Val326Ala) rs63751049 0.00037
NM_000179.3(MSH6):c.2561A>T (p.Lys854Met) rs34374438 0.00036
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe) rs56009889 0.00035
NM_000455.5(STK11):c.1284G>A (p.Ser428=) rs369097329 0.00035
NM_000535.7(PMS2):c.1864A>G (p.Met622Val) rs370853512 0.00035
NM_000038.6(APC):c.607C>G (p.Gln203Glu) rs141576417 0.00034
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr) rs63750365 0.00034
NM_000251.3(MSH2):c.2154A>G (p.Gln718=) rs63750810 0.00033
NM_000059.4(BRCA2):c.223G>C (p.Ala75Pro) rs28897701 0.00032
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_007194.4(CHEK2):c.1497G>C (p.Leu499=) rs587780890 0.00032
NM_000051.4(ATM):c.7740A>C (p.Arg2580Ser) rs199915459 0.00031
NM_001042492.3(NF1):c.1137C>T (p.Cys379=) rs139648455 0.00031
NM_000051.4(ATM):c.7044G>A (p.Thr2348=) rs140104789 0.00030
NM_000546.6(TP53):c.173C>G (p.Pro58Arg) rs144386518 0.00030
NM_000038.6(APC):c.2593C>T (p.Pro865Ser) rs192620988 0.00028
NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser) rs146531614 0.00028
NM_000465.4(BARD1):c.1491A>G (p.Pro497=) rs61754117 0.00027
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser) rs104895032 0.00027
NM_007194.4(CHEK2):c.1604G>A (p.Arg535His) rs544216926 0.00027
NM_004360.5(CDH1):c.2413G>A (p.Asp805Asn) rs200894246 0.00026
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 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_000535.7(PMS2):c.2324A>G (p.Asn775Ser) rs17420802 0.00025
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys) rs28897676 0.00023
NM_000038.6(APC):c.7036C>T (p.Pro2346Ser) rs200756935 0.00022
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755 0.00022
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys) rs139438201 0.00022
NM_000038.6(APC):c.3352A>G (p.Asn1118Asp) rs140493115 0.00021
NM_024675.4(PALB2):c.298C>T (p.Leu100Phe) rs61756147 0.00021
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr) rs145119475 0.00019
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg) rs56399857 0.00019
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550 0.00019
NM_000179.3(MSH6):c.4001+11_4001+15dup rs587779302 0.00019
NM_000546.6(TP53):c.1079G>C (p.Gly360Ala) rs35993958 0.00019
NM_001042492.3(NF1):c.1032A>G (p.Leu344=) rs199832006 0.00019
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) rs139366548 0.00019
NM_007294.4(BRCA1):c.4484+14A>G rs80358022 0.00019
NM_000038.6(APC):c.4237A>G (p.Met1413Val) rs141519952 0.00018
NM_000038.6(APC):c.5009C>T (p.Ala1670Val) rs202228932 0.00018
NM_000455.5(STK11):c.618G>A (p.Ala206=) rs370976710 0.00018
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_004360.5(CDH1):c.2412C>T (p.Pro804=) rs202075199 0.00018
NM_000059.4(BRCA2):c.10203G>A (p.Thr3401=) rs147854265 0.00017
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met) rs587780046 0.00017
NM_001042492.3(NF1):c.6172A>G (p.Ile2058Val) rs201712827 0.00017
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys) rs28897686 0.00017
NM_024675.4(PALB2):c.2135C>T (p.Ala712Val) rs141458731 0.00017
NM_032043.3(BRIP1):c.1890A>G (p.Thr630=) rs145796331 0.00017
NM_000179.3(MSH6):c.3160A>T (p.Ile1054Phe) rs267608075 0.00016
NM_000314.8(PTEN):c.234C>T (p.Thr78=) rs35917308 0.00016
NM_002485.5(NBN):c.2202A>G (p.Ala734=) rs200452212 0.00016
NM_000038.6(APC):c.6985A>G (p.Ile2329Val) rs146048493 0.00015
NM_001042492.3(NF1):c.107C>G (p.Thr36Ser) rs199966218 0.00015
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342 0.00015
NM_000038.6(APC):c.6609T>C (p.Val2203=) rs149328018 0.00014
NM_000051.4(ATM):c.7618G>A (p.Val2540Ile) rs35203200 0.00014
NM_000059.4(BRCA2):c.4061C>T (p.Thr1354Met) rs80358656 0.00014
NM_032043.3(BRIP1):c.595C>T (p.Leu199=) rs144969738 0.00014
NM_000535.7(PMS2):c.255G>A (p.Leu85=) rs200491279 0.00013
NM_001042492.3(NF1):c.1599C>G (p.Val533=) rs369458366 0.00013
NM_001042492.3(NF1):c.7026G>A (p.Leu2342=) rs371581213 0.00013
NM_001048174.2(MUTYH):c.849+3A>C rs587780751 0.00013
NM_007194.4(CHEK2):c.7C>T (p.Arg3Trp) rs199708878 0.00013
NM_000051.4(ATM):c.4375G>A (p.Gly1459Arg) rs145667735 0.00012
NM_000059.4(BRCA2):c.3055C>G (p.Leu1019Val) rs55638633 0.00012
NM_004360.5(CDH1):c.1409C>T (p.Thr470Ile) rs370864592 0.00012
NM_000038.6(APC):c.3875C>T (p.Thr1292Met) rs371113837 0.00011
NM_000051.4(ATM):c.2346A>G (p.Leu782=) rs730881285 0.00011
NM_000051.4(ATM):c.5185G>C (p.Val1729Leu) rs3092907 0.00011
NM_000051.4(ATM):c.7919C>T (p.Thr2640Ile) rs4988125 0.00011
NM_000179.3(MSH6):c.628-7C>A rs373129248 0.00011
NM_000455.5(STK11):c.825G>A (p.Pro275=) rs202011521 0.00011
NM_000535.7(PMS2):c.1689A>G (p.Arg563=) rs551226281 0.00011
NM_001048174.2(MUTYH):c.1034C>T (p.Ala345Val) rs35352891 0.00011
NM_001048174.2(MUTYH):c.1464G>A (p.Pro488=) rs143796254 0.00011
NM_002485.5(NBN):c.1036G>A (p.Val346Met) rs200297914 0.00011
NM_002485.5(NBN):c.37+10G>C rs369408590 0.00011
NM_007294.4(BRCA1):c.4358-2725T>C rs374519494 0.00011
NM_024675.4(PALB2):c.1250C>A (p.Ser417Tyr) rs45510998 0.00011
NM_032043.3(BRIP1):c.249A>G (p.Gln83=) rs45528833 0.00011
NM_000038.6(APC):c.388A>G (p.Ser130Gly) rs150973053 0.00010
NM_000314.8(PTEN):c.579G>A (p.Leu193=) rs568851024 0.00010
NM_000455.5(STK11):c.787T>C (p.Leu263=) rs372378119 0.00010
NM_000051.4(ATM):c.5005+7_5005+8del rs587780626 0.00009
NM_000059.4(BRCA2):c.5455C>T (p.Pro1819Ser) rs80358768 0.00009
NM_000465.4(BARD1):c.1694G>A (p.Arg565His) rs146946984 0.00009
NM_001042492.3(NF1):c.5757G>A (p.Glu1919=) rs141077224 0.00009
NM_001048174.2(MUTYH):c.583A>G (p.Ile195Val) rs200872702 0.00009
NM_002485.5(NBN):c.1915-24C>T rs201654255 0.00009
NM_002485.5(NBN):c.426T>C (p.Asn142=) rs143070291 0.00009
NM_004360.5(CDH1):c.894C>T (p.Ala298=) rs139110184 0.00009
NM_000051.4(ATM):c.7778A>G (p.Gln2593Arg) rs587779867 0.00008
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp) rs199739859 0.00008
NM_000535.7(PMS2):c.877A>G (p.Asn293Asp) rs530993704 0.00008
NM_001042492.3(NF1):c.8105A>T (p.Tyr2702Phe) rs201824349 0.00008
NM_007294.4(BRCA1):c.4882A>G (p.Met1628Val) rs80357465 0.00008
NM_024675.4(PALB2):c.2474G>C (p.Arg825Thr) rs146218439 0.00008
NM_000179.3(MSH6):c.1054G>A (p.Val352Ile) rs730881787 0.00007
NM_000179.3(MSH6):c.2384T>C (p.Ile795Thr) rs202127474 0.00007
NM_000455.5(STK11):c.1127A>C (p.Glu376Ala) rs373888280 0.00007
NM_001042492.3(NF1):c.1528-10T>C rs376174484 0.00007
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His) rs121908706 0.00007
NM_000038.6(APC):c.4478C>T (p.Thr1493Met) rs374892194 0.00006
NM_000038.6(APC):c.5026A>G (p.Arg1676Gly) rs370560998 0.00006
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr) rs372305287 0.00006
NM_000051.4(ATM):c.198A>G (p.Lys66=) rs540920248 0.00006
NM_000051.4(ATM):c.610G>A (p.Gly204Arg) rs147915571 0.00006
NM_000179.3(MSH6):c.178T>C (p.Leu60=) rs35819209 0.00006
NM_000249.4(MLH1):c.2174G>A (p.Arg725His) rs566928243 0.00006
NM_000465.4(BARD1):c.1793C>A (p.Thr598Asn) rs376256852 0.00006
NM_000465.4(BARD1):c.716T>A (p.Leu239Gln) rs200359745 0.00006
NM_000535.7(PMS2):c.736_740del (p.Leu245_Pro246insTer) rs778352959 0.00006
NM_000535.7(PMS2):c.741_742insGTGTGTGAAG (p.Ser248fs) rs756653193 0.00006
NM_001042492.3(NF1):c.4526G>A (p.Arg1509His) rs546073780 0.00006
NM_001048174.2(MUTYH):c.1381G>A (p.Ala461Thr) rs587782263 0.00006
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu) rs587780180 0.00006
NM_007194.4(CHEK2):c.539G>A (p.Arg180His) rs137853009 0.00006
NM_007294.4(BRCA1):c.3640G>A (p.Glu1214Lys) rs80356923 0.00006
NM_024675.4(PALB2):c.2866G>A (p.Glu956Lys) rs1219715328 0.00006
NM_032043.3(BRIP1):c.689C>T (p.Ser230Leu) rs759031349 0.00006
NM_000051.4(ATM):c.4665C>T (p.Leu1555=) rs374431061 0.00005
NM_000179.3(MSH6):c.147C>T (p.Ala49=) rs768803986 0.00005
NM_000179.3(MSH6):c.2562G>T (p.Lys854Asn) rs759048538 0.00005
NM_000249.4(MLH1):c.80G>A (p.Arg27Gln) rs138705565 0.00005
NM_000535.7(PMS2):c.71A>C (p.His24Pro) rs139233015 0.00005
NM_000038.6(APC):c.4073C>T (p.Ala1358Val) rs730881249 0.00004
NM_000038.6(APC):c.8261G>A (p.Ser2754Asn) rs369721828 0.00004
NM_000051.4(ATM):c.1888G>A (p.Val630Met) rs148191382 0.00004
NM_000051.4(ATM):c.8968G>A (p.Glu2990Lys) rs1800558 0.00004
NM_000059.4(BRCA2):c.8420C>T (p.Ser2807Leu) rs55763607 0.00004
NM_000059.4(BRCA2):c.8723T>G (p.Val2908Gly) rs28897753 0.00004
NM_000179.3(MSH6):c.107C>T (p.Ala36Val) rs61756469 0.00004
NM_000249.4(MLH1):c.794G>A (p.Arg265His) rs63751448 0.00004
NM_000251.2(MSH2):c.-102T>C rs17217709 0.00004
NM_000455.5(STK11):c.613G>A (p.Ala205Thr) rs730881981 0.00004
NM_000465.4(BARD1):c.353A>G (p.Asn118Ser) rs142864491 0.00004
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met) rs576055272 0.00004
NM_000535.7(PMS2):c.475G>A (p.Val159Met) rs142416537 0.00004
NM_001042492.3(NF1):c.5812+8A>G rs372075322 0.00004
NM_001042492.3(NF1):c.6428-3C>T rs374014162 0.00004
NM_001126049.2(KLLN):c.-806A>C rs587782761 0.00004
NM_004360.5(CDH1):c.1174G>A (p.Val392Ile) rs141864044 0.00004
NM_007194.4(CHEK2):c.1008G>A (p.Gln336=) rs201544715 0.00004
NM_007194.4(CHEK2):c.15G>A (p.Ser5=) rs145183886 0.00004
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) rs28897672 0.00004
NM_024675.4(PALB2):c.1699C>T (p.His567Tyr) rs370422990 0.00004
NM_024675.4(PALB2):c.2082A>G (p.Thr694=) rs781440401 0.00004
NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro) rs149364097 0.00004
NM_032043.3(BRIP1):c.1695A>C (p.Ser565=) rs142572387 0.00004
NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys) rs752309409 0.00004
NM_000059.4(BRCA2):c.6293C>T (p.Ser2098Phe) rs80358867 0.00003
NM_000059.4(BRCA2):c.6935A>T (p.Asp2312Val) rs80358916 0.00003
NM_000249.4(MLH1):c.1514G>A (p.Ser505Asn) rs771044689 0.00003
NM_000546.6(TP53):c.903A>G (p.Pro301=) rs72661120 0.00003
NM_001042492.3(NF1):c.1975C>T (p.Arg659Trp) rs757512142 0.00003
NM_001126049.2(KLLN):c.-938A>T rs786204921 0.00003
NM_001126049.2(KLLN):c.-996G>A rs876661007 0.00003
NM_002485.5(NBN):c.702+9G>A rs748373099 0.00003
NM_007194.4(CHEK2):c.1526C>T (p.Pro509Leu) rs587782541 0.00003
NM_024675.4(PALB2):c.3296C>G (p.Thr1099Arg) rs142132127 0.00003
NM_032043.3(BRIP1):c.702G>A (p.Lys234=) rs45512798 0.00003
NM_058216.3(RAD51C):c.7G>A (p.Gly3Arg) rs376403182 0.00003
NM_000038.6(APC):c.7020C>T (p.Asn2340=) rs773108684 0.00002
NM_000038.6(APC):c.7821C>T (p.Ser2607=) rs532235331 0.00002
NM_000051.4(ATM):c.1855A>C (p.Asn619His) rs140882609 0.00002
NM_000051.4(ATM):c.3219A>G (p.Val1073=) rs752849892 0.00002
NM_000051.4(ATM):c.3577G>A (p.Val1193Ile) rs779148780 0.00002
NM_000051.4(ATM):c.5649C>T (p.Ser1883=) rs1057522721 0.00002
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr) rs148064985 0.00002
NM_000251.3(MSH2):c.964G>A (p.Gly322Ser) rs773301485 0.00002
NM_000546.6(TP53):c.510G>A (p.Thr170=) rs757544615 0.00002
NM_001042492.3(NF1):c.1620G>T (p.Glu540Asp) rs766748586 0.00002
NM_001048174.2(MUTYH):c.1172C>A (p.Ala391Asp) rs369299948 0.00002
NM_001127511.3(APC):c.166-28443T>A rs751998391 0.00002
NM_002485.5(NBN):c.-36G>A rs762098812 0.00002
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter) rs587782545 0.00002
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu) rs370228071 0.00002
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter) rs180177132 0.00002
NM_000038.6(APC):c.1596A>G (p.Gln532=) rs1331131200 0.00001
NM_000038.6(APC):c.3136A>G (p.Asn1046Asp) rs755493779 0.00001
NM_000038.6(APC):c.5224C>T (p.Arg1742Cys) rs876658835 0.00001
NM_000038.6(APC):c.5918G>A (p.Ser1973Asn) rs4987109 0.00001
NM_000038.6(APC):c.6127A>G (p.Ile2043Val) rs876660233 0.00001
NM_000038.6(APC):c.6887G>A (p.Ser2296Asn) rs919611781 0.00001
NM_000051.4(ATM):c.2638+3A>G rs876660552 0.00001
NM_000051.4(ATM):c.2915C>T (p.Pro972Leu) rs750093937 0.00001
NM_000051.4(ATM):c.3336T>A (p.Pro1112=) rs758784434 0.00001
NM_000051.4(ATM):c.4612-4T>G rs569983068 0.00001
NM_000051.4(ATM):c.5410A>T (p.Ile1804Phe) rs769872474 0.00001
NM_000051.4(ATM):c.8266A>T (p.Lys2756Ter) rs371638537 0.00001
NM_000051.4(ATM):c.8810T>C (p.Val2937Ala) rs587782149 0.00001
NM_000059.4(BRCA2):c.4741G>A (p.Glu1581Lys) rs368952892 0.00001
NM_000059.4(BRCA2):c.5828del (p.Ser1943fs) rs80359541 0.00001
NM_000059.4(BRCA2):c.6546A>G (p.Lys2182=) rs955328603 0.00001
NM_000059.4(BRCA2):c.6698C>A (p.Ala2233Asp) rs41293501 0.00001
NM_000059.4(BRCA2):c.8297del (p.Thr2766fs) rs80359705 0.00001
NM_000059.4(BRCA2):c.8377G>A (p.Gly2793Arg) rs80359082 0.00001
NM_000059.4(BRCA2):c.9012G>A (p.Lys3004=) rs748815473 0.00001
NM_000059.4(BRCA2):c.9672dup (p.Tyr3225fs) rs80359773 0.00001
NM_000179.3(MSH6):c.1864A>C (p.Ile622Leu) rs587778529 0.00001
NM_000179.3(MSH6):c.1894A>G (p.Lys632Glu) rs755847154 0.00001
NM_000179.3(MSH6):c.81C>G (p.Ala27=) rs781496151 0.00001
NM_000179.3(MSH6):c.998C>T (p.Thr333Ile) rs587781983 0.00001
NM_000249.4(MLH1):c.826A>G (p.Ile276Val) rs876660395 0.00001
NM_000251.3(MSH2):c.10C>A (p.Gln4Lys) rs878853797 0.00001
NM_000251.3(MSH2):c.2579C>T (p.Ser860Leu) rs63750849 0.00001
NM_000455.5(STK11):c.*176C>T rs1599934027 0.00001
NM_000465.4(BARD1):c.2071C>T (p.Leu691Phe) rs1036838204 0.00001
NM_000535.7(PMS2):c.1753C>A (p.Leu585Ile) rs63750947 0.00001
NM_000535.7(PMS2):c.1760G>A (p.Ser587Asn) rs762100304 0.00001
NM_000535.7(PMS2):c.241G>A (p.Glu81Lys) rs730881919 0.00001
NM_000535.7(PMS2):c.449C>T (p.Pro150Leu) rs778119115 0.00001
NM_000546.6(TP53):c.222C>T (p.Ala74=) rs786201577 0.00001
NM_001042492.3(NF1):c.1138C>T (p.Leu380Phe) rs1426127948 0.00001
NM_001042492.3(NF1):c.1219C>T (p.His407Tyr) rs1156614886 0.00001
NM_001042492.3(NF1):c.2010A>G (p.Ala670=) rs786202440 0.00001
NM_001042492.3(NF1):c.2476A>C (p.Ile826Leu) rs767069721 0.00001
NM_001048174.2(MUTYH):c.1206C>T (p.Pro402=) rs752408891 0.00001
NM_001048174.2(MUTYH):c.1218G>A (p.Thr406=) rs751465584 0.00001
NM_001048174.2(MUTYH):c.1320C>T (p.Thr440=) rs746668146 0.00001
NM_001048174.2(MUTYH):c.288C>T (p.Asp96=) rs730881836 0.00001
NM_001048174.2(MUTYH):c.409G>A (p.Ala137Thr) rs201103359 0.00001
NM_001048174.2(MUTYH):c.634G>A (p.Ala212Thr) rs774237159 0.00001
NM_001128425.2(MUTYH):c.38C>T (p.Ala13Val) rs587780747 0.00001
NM_002485.5(NBN):c.1397+3C>G rs876660481 0.00001
NM_002485.5(NBN):c.1465C>G (p.Leu489Val) rs143948240 0.00001
NM_002485.5(NBN):c.938C>T (p.Ala313Val) rs730881862 0.00001
NM_004360.5(CDH1):c.1164G>A (p.Glu388=) rs774875972 0.00001
NM_004360.5(CDH1):c.1250A>G (p.Asn417Ser) rs773441320 0.00001
NM_004360.5(CDH1):c.1773C>T (p.Asn591=) rs373719554 0.00001
NM_004360.5(CDH1):c.2549C>G (p.Ser850Cys) rs1337211551 0.00001
NM_004360.5(CDH1):c.604G>A (p.Val202Ile) rs546716073 0.00001
NM_004360.5(CDH1):c.781G>A (p.Glu261Lys) rs121964873 0.00001
NM_007194.4(CHEK2):c.1180G>A (p.Glu394Lys) rs587780169 0.00001
NM_007194.4(CHEK2):c.1452G>A (p.Pro484=) rs749156425 0.00001
NM_007194.4(CHEK2):c.434G>A (p.Arg145Gln) rs587781667 0.00001
NM_007294.4(BRCA1):c.4204C>T (p.His1402Tyr) rs80357365 0.00001
NM_007294.4(BRCA1):c.4649C>T (p.Thr1550Ile) rs80357076 0.00001
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter) rs118203998 0.00001
NM_024675.4(PALB2):c.734C>T (p.Ala245Val) rs571063157 0.00001
NM_024675.4(PALB2):c.833T>A (p.Leu278Gln) rs200843485 0.00001
NM_024675.4(PALB2):c.834A>T (p.Leu278=) rs199919863 0.00001
NM_032043.3(BRIP1):c.2765T>G (p.Leu922Ter) rs587782410 0.00001
NM_032043.3(BRIP1):c.2811T>C (p.Asp937=) rs374335608 0.00001
NM_032043.3(BRIP1):c.338C>T (p.Thr113Ile) rs778480809 0.00001
NM_032043.3(BRIP1):c.380-7A>G rs748143260 0.00001
NM_000038.6(APC):c.1338C>A (p.Ile446=) rs759703047
NM_000038.6(APC):c.1480A>T (p.Ser494Cys)
NM_000038.6(APC):c.1481G>A (p.Ser494Asn) rs1554081691
NM_000038.6(APC):c.1811C>T (p.Ala604Val) rs370955311
NM_000038.6(APC):c.2513G>A (p.Arg838Lys) rs1765200954
NM_000038.6(APC):c.2934A>T (p.Gln978His)
NM_000038.6(APC):c.3421A>G (p.Thr1141Ala) rs1476899240
NM_000038.6(APC):c.3462AGA[2] (p.Glu1157del) rs386833391
NM_000038.6(APC):c.4296A>G (p.Pro1432=) rs1554085734
NM_000038.6(APC):c.4589A>G (p.Glu1530Gly)
NM_000038.6(APC):c.5050T>C (p.Phe1684Leu) rs886059795
NM_000038.6(APC):c.7425T>C (p.Thr2475=) rs1554088347
NM_000038.6(APC):c.777G>T (p.Arg259=) rs147704593
NM_000038.6(APC):c.947A>G (p.Tyr316Cys) rs876659673
NM_000051.4(ATM):c.2922-1G>T rs1555084931
NM_000051.4(ATM):c.2945G>A (p.Arg982His) rs749471737
NM_000051.4(ATM):c.4433A>G (p.Gln1478Arg) rs2082686442
NM_000051.4(ATM):c.478_482del (p.Ser160fs) rs587780624
NM_000051.4(ATM):c.5240A>G (p.His1747Arg) rs1555105695
NM_000051.4(ATM):c.590G>T (p.Gly197Val) rs753806542
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del) rs587776547
NM_000051.4(ATM):c.7706A>G (p.Asp2569Gly) rs1555124575
NM_000051.4(ATM):c.790del (p.Tyr264fs) rs587781978
NM_000051.4(ATM):c.8959G>T (p.Asp2987Tyr) rs863224582
NM_000051.4(ATM):c.929G>A (p.Ser310Asn) rs2079879169
NM_000051.4(ATM):c.93G>C (p.Lys31Asn) rs863224583
NM_000059.4(BRCA2):c.1460C>A (p.Ala487Glu) rs56390402
NM_000059.4(BRCA2):c.2044A>T (p.Ile682Phe) rs398122738
NM_000059.4(BRCA2):c.2307_2312del (p.Ile770_Leu771del) rs1555282605
NM_000059.4(BRCA2):c.3199del (p.Thr1067fs) rs80359377
NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000059.4(BRCA2):c.5126A>G (p.Asp1709Gly) rs786202836
NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter) rs80359499
NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter) rs80358920
NM_000059.4(BRCA2):c.7772A>G (p.Asn2591Ser) rs80359006
NM_000059.4(BRCA2):c.8825C>T (p.Ala2942Val) rs373227180
NM_000059.4(BRCA2):c.8953+1G>T rs81002882
NM_000059.4(BRCA2):c.9015A>G (p.Arg3005=) rs1060502477
NM_000179.3(MSH6):c.1483C>T (p.Arg495Ter) rs587779212
NM_000179.3(MSH6):c.1806A>G (p.Ser602=) rs1057520981
NM_000179.3(MSH6):c.1897A>T (p.Thr633Ser)
NM_000179.3(MSH6):c.1946A>G (p.Asp649Gly) rs777799551
NM_000179.3(MSH6):c.2018C>T (p.Pro673Leu) rs864622085
NM_000179.3(MSH6):c.23A>G (p.Tyr8Cys) rs1572697757
NM_000179.3(MSH6):c.2403G>T (p.Val801=) rs1572727035
NM_000179.3(MSH6):c.2615T>A (p.Ile872Lys) rs1064793342
NM_000179.3(MSH6):c.3070C>T (p.Arg1024Trp) rs370505117
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.3259C>T (p.Pro1087Ser) rs63750998
NM_000179.3(MSH6):c.3438+6T>G
NM_000179.3(MSH6):c.3517G>A (p.Val1173Met) rs730881806
NM_000179.3(MSH6):c.4001+2TAAC[2] rs267608132
NM_000179.3(MSH6):c.4001+2TAAC[4] rs267608132
NM_000249.4(MLH1):c.1039-8_1039-7insTTTTA rs535965616
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr) rs63750449
NM_000249.4(MLH1):c.768_769insCTCCA (p.Ile257fs)
NM_000249.4(MLH1):c.770_771insGTCC (p.Ile257fs)
NM_000251.3(MSH2):c.1032G>A (p.Gln344=) rs375799148
NM_000251.3(MSH2):c.1276+10G>A rs374061707
NM_000251.3(MSH2):c.2380A>C (p.Ile794Leu) rs1553369778
NM_000251.3(MSH2):c.273TCT[2] (p.Leu94del) rs267607919
NM_000251.3(MSH2):c.942+17_942+29del rs11309117
NM_000251.3(MSH2):c.942+21_942+29del rs11309117
NM_000251.3(MSH2):c.942+22_942+29del rs11309117
NM_000251.3(MSH2):c.942+23_942+29del rs11309117
NM_000251.3(MSH2):c.942+25_942+29del rs11309117
NM_000314.8(PTEN):c.1161A>G (p.Pro387=) rs1057523975
NM_000314.8(PTEN):c.376G>A (p.Ala126Thr) rs1554898129
NM_000455.5(STK11):c.*309G>A
NM_000455.5(STK11):c.*70C>G rs1029333558
NM_000455.5(STK11):c.1105C>T (p.Pro369Ser) rs758887235
NM_000455.5(STK11):c.1259C>A (p.Ala420Asp) rs369033659
NM_000465.4(BARD1):c.1070T>C (p.Ile357Thr) rs587781555
NM_000465.4(BARD1):c.1071A>C (p.Ile357=) rs786202366
NM_000465.4(BARD1):c.684A>T (p.Glu228Asp) rs780627045
NM_000535.7(PMS2):c.1042G>C (p.Glu348Gln) rs1783538909
NM_000535.7(PMS2):c.1293G>C (p.Glu431Asp)
NM_000535.7(PMS2):c.2479A>G (p.Met827Val) rs876659537
NM_000535.7(PMS2):c.2500A>G (p.Met834Val)
NM_000535.7(PMS2):c.706-5_706-4dup
NM_000535.7(PMS2):c.706-6_706-4del rs60794673
NM_000546.6(TP53):c.74+50_74+55dup rs2073512697
NM_001042492.3(NF1):c.2338dup (p.Thr780fs) rs1567848129
NM_001042492.3(NF1):c.3193A>C (p.Thr1065Pro)
NM_001042492.3(NF1):c.7341A>G (p.Glu2447=) rs878853915
NM_001042492.3(NF1):c.8161-7A>G rs767623039
NM_001042492.3(NF1):c.8244A>T (p.Glu2748Asp) rs878853919
NM_001048174.2(MUTYH):c.-7+5C>G rs3219468
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=) rs121908380
NM_001126049.2(KLLN):c.-794_-783del rs587781340
NM_001126049.2(KLLN):c.-812G>A rs587779981
NM_001128425.2(MUTYH):c.36+119G>A
NM_001128425.2(MUTYH):c.36+181G>C
NM_001128425.2(MUTYH):c.36+217A>G
NM_002485.5(NBN):c.172-28G>T
NM_002485.5(NBN):c.2138C>G (p.Ala713Gly) rs986903713
NM_002485.5(NBN):c.2164T>G (p.Trp722Gly) rs1554555748
NM_002485.5(NBN):c.266G>A (p.Arg89Gln) rs747315554
NM_002485.5(NBN):c.574C>G (p.Gln192Glu)
NM_002485.5(NBN):c.758C>T (p.Thr253Ile) rs61754967
NM_004360.5(CDH1):c.1565+2_1565+3insTT rs1555516200
NM_007194.4(CHEK2):c.1392G>T (p.Lys464Asn) rs764396738
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1]) rs587780181
NM_007294.4(BRCA1):c.2338C>G (p.Gln780Glu) rs80356945
NM_007294.4(BRCA1):c.2594del (p.Lys865fs) rs80357756
NM_007294.4(BRCA1):c.2806_2809del (p.Asp936fs) rs80357832
NM_007294.4(BRCA1):c.5137del (p.Trp1712_Val1713insTer) rs80357997
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_024675.4(PALB2):c.1881G>T (p.Val627=) rs139362268
NM_024675.4(PALB2):c.212-10del rs766487430
NM_024675.4(PALB2):c.233T>C (p.Val78Ala) rs1313634930
NM_024675.4(PALB2):c.2931dup (p.Val978fs) rs587782570
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) rs515726123
NM_032043.3(BRIP1):c.-9G>C
NM_032043.3(BRIP1):c.3528A>C (p.Ile1176=)
NM_032043.3(BRIP1):c.3528_3529insTTT (p.Ile1176_Lys1177insPhe)
NM_032043.3(BRIP1):c.370A>G (p.Thr124Ala) rs45617634
NM_032043.3(BRIP1):c.508-1G>C rs864622277
NM_032043.3(BRIP1):c.533C>T (p.Thr178Ile) rs876658780
NM_058216.3(RAD51C):c.1027-3C>G rs587782459

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