ClinVar Miner

List of variants reported as uncertain significance for Breast and/or ovarian cancer by CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

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ClinVar version:
Total variants: 681
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.1788T>C (p.Asp596=) rs11571642 0.00768
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_000051.4(ATM):c.6437G>C (p.Ser2146Thr) rs56815840 0.00424
NM_000051.4(ATM):c.6860G>C (p.Gly2287Ala) rs1800061 0.00096
NM_000051.4(ATM):c.1073A>G (p.Asn358Ser) rs149636614 0.00079
NM_007194.4(CHEK2):c.320-5T>A rs121908700 0.00070
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941 0.00053
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_000051.4(ATM):c.4709T>C (p.Val1570Ala) rs140856217 0.00046
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg) rs55801750 0.00038
NM_002878.4(RAD51D):c.26G>C (p.Cys9Ser) rs140825795 0.00037
NM_007194.4(CHEK2):c.*18C>T rs17884403 0.00037
NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu) rs564605612 0.00036
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883 0.00034
NM_002878.4(RAD51D):c.167T>G (p.Val56Gly) rs745307359 0.00033
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys) rs2229022 0.00032
NM_000179.3(MSH6):c.3488A>T (p.Glu1163Val) rs63750252 0.00032
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_000251.3(MSH2):c.435T>G (p.Ile145Met) rs63750124 0.00031
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His) rs201666889 0.00029
NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys) rs375289386 0.00029
NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser) rs146531614 0.00028
NM_000455.5(STK11):c.*8C>T rs587782259 0.00027
NM_032043.3(BRIP1):c.3559G>A (p.Ala1187Thr) rs367610893 0.00027
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser) rs200513014 0.00026
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp) rs150624408 0.00026
NM_002878.4(RAD51D):c.413A>G (p.Asn138Ser) rs201676898 0.00025
NM_000465.4(BARD1):c.668A>G (p.Glu223Gly) rs145009419 0.00024
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098 0.00024
NM_000465.4(BARD1):c.1347A>G (p.Gln449=) rs373257776 0.00021
NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr) rs63751132 0.00021
NM_007294.4(BRCA1):c.2155A>G (p.Lys719Glu) rs80357147 0.00021
NM_024675.4(PALB2):c.298C>T (p.Leu100Phe) rs61756147 0.00021
NM_000059.4(BRCA2):c.6803G>A (p.Arg2268Lys) rs80358906 0.00020
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu) rs147187700 0.00019
NM_000051.4(ATM):c.8734A>G (p.Arg2912Gly) rs376676328 0.00019
NM_000059.4(BRCA2):c.8905G>A (p.Val2969Met) rs59004709 0.00019
NM_000251.3(MSH2):c.138C>G (p.His46Gln) rs33946261 0.00019
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) rs139366548 0.00019
NM_000059.4(BRCA2):c.7712A>G (p.Glu2571Gly) rs55689095 0.00018
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr) rs63749910 0.00018
NM_000051.4(ATM):c.2522A>C (p.Asp841Ala) rs587781812 0.00017
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser) rs370559102 0.00017
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met) rs587780046 0.00017
NM_058216.3(RAD51C):c.640C>T (p.Arg214Cys) rs140804406 0.00017
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp) rs201199629 0.00016
NM_000249.4(MLH1):c.65G>C (p.Gly22Ala) rs41295280 0.00016
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr) rs201343342 0.00016
NM_000051.4(ATM):c.2887A>G (p.Met963Val) rs374353016 0.00015
NM_000051.4(ATM):c.8156G>A (p.Arg2719His) rs55982963 0.00015
NM_000059.4(BRCA2):c.6560C>T (p.Pro2187Leu) rs56019712 0.00015
NM_004360.5(CDH1):c.2329G>A (p.Asp777Asn) rs372989292 0.00015
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342 0.00015
NM_000051.4(ATM):c.3806A>G (p.Lys1269Arg) rs146017595 0.00014
NM_000051.4(ATM):c.4066A>G (p.Asn1356Asp) rs147600485 0.00014
NM_000051.4(ATM):c.5089A>G (p.Thr1697Ala) rs142455912 0.00014
NM_000051.4(ATM):c.7618G>A (p.Val2540Ile) rs35203200 0.00014
NM_000059.4(BRCA2):c.742G>A (p.Ala248Thr) rs55854959 0.00014
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu) rs61748083 0.00014
NM_000546.6(TP53):c.869G>A (p.Arg290His) rs55819519 0.00014
NM_058216.3(RAD51C):c.784T>G (p.Leu262Val) rs149331537 0.00014
NM_000051.4(ATM):c.8560C>T (p.Arg2854Cys) rs201958469 0.00013
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu) rs374704824 0.00013
NM_007194.4(CHEK2):c.7C>T (p.Arg3Trp) rs199708878 0.00013
NM_000535.7(PMS2):c.2445G>A (p.Ser815=) rs753199796 0.00012
NM_004360.5(CDH1):c.1409C>T (p.Thr470Ile) rs370864592 0.00012
NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu) rs201963507 0.00011
NM_000051.4(ATM):c.6343G>A (p.Val2115Ile) rs587780634 0.00011
NM_000251.3(MSH2):c.1461C>G (p.Asp487Glu) rs35107951 0.00011
NM_000251.3(MSH2):c.557A>G (p.Asn186Ser) rs151129360 0.00011
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587 0.00011
NM_000455.5(STK11):c.1038C>T (p.Gly346=) rs767565606 0.00011
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly) rs116788608 0.00011
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu) rs28997573 0.00011
NM_002878.4(RAD51D):c.137C>G (p.Ser46Cys) rs587780102 0.00010
NM_024675.4(PALB2):c.11C>T (p.Pro4Leu) rs45619737 0.00010
NM_000059.4(BRCA2):c.7006C>T (p.Arg2336Cys) rs431825347 0.00009
NM_000535.7(PMS2):c.1714G>A (p.Ala572Thr) rs63751023 0.00009
NM_024675.4(PALB2):c.1544A>G (p.Lys515Arg) rs515726072 0.00009
NM_058216.3(RAD51C):c.506T>C (p.Val169Ala) rs587780256 0.00009
NM_000249.4(MLH1):c.1558+5G>A rs199935667 0.00008
NM_000251.3(MSH2):c.1662-10C>T rs752606387 0.00008
NM_000251.3(MSH2):c.4G>A (p.Ala2Thr) rs63750466 0.00008
NM_000535.7(PMS2):c.1399G>A (p.Val467Ile) rs373611083 0.00008
NM_002878.4(RAD51D):c.355T>C (p.Cys119Arg) rs201313861 0.00008
NM_004360.5(CDH1):c.164T>G (p.Val55Gly) rs587778174 0.00008
NM_024675.4(PALB2):c.2509G>A (p.Glu837Lys) rs587778587 0.00008
NM_000051.4(ATM):c.2021A>G (p.His674Arg) rs201762714 0.00007
NM_000051.4(ATM):c.749G>A (p.Arg250Gln) rs56123940 0.00007
NM_000179.3(MSH6):c.2384T>C (p.Ile795Thr) rs202127474 0.00007
NM_000249.4(MLH1):c.277A>G (p.Ser93Gly) rs41295282 0.00007
NM_000251.3(MSH2):c.2732T>G (p.Leu911Arg) rs41295182 0.00007
NM_000455.5(STK11):c.1127A>C (p.Glu376Ala) rs373888280 0.00007
NM_000455.5(STK11):c.734+20G>A rs375315233 0.00007
NM_000535.7(PMS2):c.1717A>T (p.Thr573Ser) rs63751211 0.00007
NM_000535.7(PMS2):c.2068A>C (p.Lys690Gln) rs587781909 0.00007
NM_000535.7(PMS2):c.2559C>G (p.Ile853Met) rs371673459 0.00007
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His) rs121908706 0.00007
NM_007294.4(BRCA1):c.1865C>T (p.Ala622Val) rs56039126 0.00007
NM_000051.4(ATM):c.1010G>A (p.Arg337His) rs202160435 0.00006
NM_000051.4(ATM):c.2275A>G (p.Ser759Gly) rs148705269 0.00006
NM_000051.4(ATM):c.610G>A (p.Gly204Arg) rs147915571 0.00006
NM_000051.4(ATM):c.8495G>A (p.Arg2832His) rs529296539 0.00006
NM_000051.4(ATM):c.8921C>T (p.Pro2974Leu) rs139379666 0.00006
NM_000059.4(BRCA2):c.1021T>C (p.Cys341Arg) rs55833327 0.00006
NM_000059.4(BRCA2):c.1662T>G (p.Cys554Trp) rs80358451 0.00006
NM_000059.4(BRCA2):c.3073A>G (p.Lys1025Glu) rs80358550 0.00006
NM_000059.4(BRCA2):c.4828G>A (p.Val1610Met) rs80358705 0.00006
NM_000059.4(BRCA2):c.6215C>G (p.Ser2072Cys) rs80358862 0.00006
NM_000059.4(BRCA2):c.8125A>G (p.Ser2709Gly) rs398122596 0.00006
NM_000059.4(BRCA2):c.831T>G (p.Asn277Lys) rs28897705 0.00006
NM_000179.3(MSH6):c.3283C>T (p.Arg1095Cys) rs376243329 0.00006
NM_000249.4(MLH1):c.453G>A (p.Thr151=) rs369521379 0.00006
NM_000251.3(MSH2):c.1321A>C (p.Thr441Pro) rs587779086 0.00006
NM_000465.4(BARD1):c.127C>A (p.Arg43Ser) rs752871324 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.1379G>A (p.Gly460Asp) rs150201462 0.00006
NM_000535.7(PMS2):c.353+6A>G rs376449640 0.00006
NM_000535.7(PMS2):c.944G>A (p.Arg315Gln) rs116314131 0.00006
NM_000546.6(TP53):c.920-17C>A rs911934766 0.00006
NM_002878.4(RAD51D):c.145-4G>A rs201361465 0.00006
NM_004360.5(CDH1):c.2343A>T (p.Glu781Asp) rs587780119 0.00006
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu) rs587780180 0.00006
NM_007294.4(BRCA1):c.1747A>G (p.Lys583Glu) rs80356928 0.00006
NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys) rs200620434 0.00006
NM_032043.3(BRIP1):c.2087C>T (p.Pro696Leu) rs147755155 0.00006
NM_032043.3(BRIP1):c.413T>C (p.Leu138Ser) rs587780251 0.00006
NM_058216.3(RAD51C):c.134A>G (p.Glu45Gly) rs587781383 0.00006
NM_000059.4(BRCA2):c.8090G>A (p.Ser2697Asn) rs80359051 0.00005
NM_000179.3(MSH6):c.1844G>C (p.Cys615Ser) rs730881793 0.00005
NM_000179.3(MSH6):c.2173A>G (p.Ile725Val) rs148898662 0.00005
NM_000249.4(MLH1):c.1153C>T (p.Arg385Cys) rs63750760 0.00005
NM_000455.5(STK11):c.465-5C>T rs567202367 0.00005
NM_000535.7(PMS2):c.682G>A (p.Gly228Ser) rs376258383 0.00005
NM_002878.4(RAD51D):c.346-10C>T rs779972784 0.00005
NM_024675.4(PALB2):c.2773G>C (p.Val925Leu) rs180177125 0.00005
NM_000051.4(ATM):c.1516G>T (p.Gly506Cys) rs587779816 0.00004
NM_000051.4(ATM):c.202A>G (p.Ile68Val) rs35389822 0.00004
NM_000051.4(ATM):c.2418G>T (p.Leu806Phe) rs587781296 0.00004
NM_000051.4(ATM):c.2689T>A (p.Phe897Ile) rs147122522 0.00004
NM_000051.4(ATM):c.2836A>G (p.Met946Val) rs587781992 0.00004
NM_000051.4(ATM):c.5278A>G (p.Met1760Val) rs151327241 0.00004
NM_000059.4(BRCA2):c.280C>T (p.Pro94Ser) rs80358531 0.00004
NM_000059.4(BRCA2):c.2848G>A (p.Val950Ile) rs775903570 0.00004
NM_000059.4(BRCA2):c.4094G>A (p.Cys1365Tyr) rs80358657 0.00004
NM_000059.4(BRCA2):c.8918G>A (p.Arg2973His) rs80359143 0.00004
NM_000179.3(MSH6):c.107C>T (p.Ala36Val) rs61756469 0.00004
NM_000179.3(MSH6):c.1937A>G (p.Lys646Arg) rs201096652 0.00004
NM_000179.3(MSH6):c.749T>C (p.Val250Ala) rs587781275 0.00004
NM_000249.4(MLH1):c.1633A>G (p.Thr545Ala) rs267607840 0.00004
NM_000251.3(MSH2):c.2211-6C>A rs267608003 0.00004
NM_000251.3(MSH2):c.958A>G (p.Thr320Ala) rs368982417 0.00004
NM_000455.5(STK11):c.355A>G (p.Asn119Asp) rs545015076 0.00004
NM_000465.4(BARD1):c.1877A>G (p.Asn626Ser) rs587781443 0.00004
NM_000535.7(PMS2):c.197T>C (p.Ile66Thr) rs769554577 0.00004
NM_000546.6(TP53):c.1096T>G (p.Ser366Ala) rs17881470 0.00004
NM_002878.4(RAD51D):c.185C>T (p.Ser62Leu) rs374357106 0.00004
NM_002878.4(RAD51D):c.493C>T (p.Arg165Trp) rs544654228 0.00004
NM_002878.4(RAD51D):c.793G>A (p.Gly265Arg) rs140285068 0.00004
NM_002878.4(RAD51D):c.796C>T (p.Arg266Cys) rs587781813 0.00004
NM_004360.5(CDH1):c.2450C>T (p.Ala817Val) rs587782024 0.00004
NM_007294.4(BRCA1):c.3758C>G (p.Ser1253Cys) rs397509100 0.00004
NM_024675.4(PALB2):c.2289G>C (p.Leu763Phe) rs373478248 0.00004
NM_032043.3(BRIP1):c.590C>T (p.Ser197Phe) rs533184563 0.00004
NM_058216.3(RAD51C):c.721G>A (p.Val241Met) rs184033132 0.00004
NM_000051.4(ATM):c.1440A>C (p.Leu480Phe) rs370240037 0.00003
NM_000051.4(ATM):c.2222A>G (p.Tyr741Cys) rs878853492 0.00003
NM_000051.4(ATM):c.2396C>T (p.Ala799Val) rs199954262 0.00003
NM_000051.4(ATM):c.2519A>T (p.Asp840Val) rs786202605 0.00003
NM_000051.4(ATM):c.6604T>G (p.Tyr2202Asp) rs730881311 0.00003
NM_000051.4(ATM):c.7375C>T (p.Arg2459Cys) rs730881383 0.00003
NM_000051.4(ATM):c.7658C>A (p.Pro2553His) rs864622368 0.00003
NM_000051.4(ATM):c.7999A>G (p.Met2667Val) rs34099398 0.00003
NM_000051.4(ATM):c.8246A>T (p.Lys2749Ile) rs779145081 0.00003
NM_000059.4(BRCA2):c.3910A>G (p.Thr1304Ala) rs28897723 0.00003
NM_000059.4(BRCA2):c.6293C>T (p.Ser2098Phe) rs80358867 0.00003
NM_000059.4(BRCA2):c.9116C>G (p.Pro3039Arg) rs80359167 0.00003
NM_000179.3(MSH6):c.-2G>T rs374748889 0.00003
NM_000179.3(MSH6):c.362G>A (p.Arg121His) rs769279475 0.00003
NM_000249.4(MLH1):c.1067C>T (p.Ser356Phe) rs749334262 0.00003
NM_000249.4(MLH1):c.376T>A (p.Tyr126Asn) rs200076893 0.00003
NM_000251.3(MSH2):c.409G>C (p.Gly137Arg) rs587781795 0.00003
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln) rs375709098 0.00003
NM_000465.4(BARD1):c.2252G>A (p.Arg751Gln) rs587782246 0.00003
NM_000465.4(BARD1):c.568G>A (p.Asp190Asn) rs369561166 0.00003
NM_000535.7(PMS2):c.1438G>A (p.Gly480Arg) rs146848345 0.00003
NM_000535.7(PMS2):c.1954A>T (p.Ile652Phe) rs748927376 0.00003
NM_000535.7(PMS2):c.355G>A (p.Asp119Asn) rs587781913 0.00003
NM_000535.7(PMS2):c.924G>C (p.Glu308Asp) rs114185660 0.00003
NM_004360.5(CDH1):c.1225T>C (p.Trp409Arg) rs587778176 0.00003
NM_004360.5(CDH1):c.2017C>A (p.Gln673Lys) rs587781701 0.00003
NM_007194.4(CHEK2):c.1130A>G (p.Glu377Gly) rs560973106 0.00003
NM_007194.4(CHEK2):c.1561C>T (p.Arg521Trp) rs533475838 0.00003
NM_007194.4(CHEK2):c.1567C>T (p.Arg523Cys) rs149501505 0.00003
NM_007194.4(CHEK2):c.953G>A (p.Arg318His) rs143611747 0.00003
NM_007294.4(BRCA1):c.1573G>A (p.Val525Ile) rs80357273 0.00003
NM_007294.4(BRCA1):c.2447A>G (p.His816Arg) rs80357108 0.00003
NM_007294.4(BRCA1):c.594-2A>C rs80358033 0.00003
NM_007294.4(BRCA1):c.641A>G (p.Asp214Gly) rs55680408 0.00003
NM_007294.4(BRCA1):c.81-6T>C rs80358179 0.00003
NM_024675.4(PALB2):c.1189A>T (p.Thr397Ser) rs367578415 0.00003
NM_024675.4(PALB2):c.1647C>A (p.His549Gln) rs747842085 0.00003
NM_024675.4(PALB2):c.1756G>A (p.Asp586Asn) rs587781954 0.00003
NM_024675.4(PALB2):c.3473A>G (p.His1158Arg) rs45505500 0.00003
NM_032043.3(BRIP1):c.2285G>A (p.Arg762His) rs200960251 0.00003
NM_032043.3(BRIP1):c.2324A>G (p.Asn775Ser) rs571108955 0.00003
NM_032043.3(BRIP1):c.3571A>G (p.Ile1191Val) rs761405340 0.00003
NM_000051.4(ATM):c.2159G>A (p.Arg720His) rs55830714 0.00002
NM_000051.4(ATM):c.3577G>A (p.Val1193Ile) rs779148780 0.00002
NM_000059.4(BRCA2):c.1409A>C (p.Glu470Ala) rs750341436 0.00002
NM_000059.4(BRCA2):c.266C>T (p.Pro89Leu) rs748609599 0.00002
NM_000059.4(BRCA2):c.5428G>A (p.Val1810Ile) rs80358766 0.00002
NM_000059.4(BRCA2):c.5813G>C (p.Gly1938Ala) rs41293499 0.00002
NM_000059.4(BRCA2):c.5839C>T (p.Pro1947Ser) rs80358812 0.00002
NM_000059.4(BRCA2):c.5937C>G (p.Ser1979Arg) rs28897737 0.00002
NM_000059.4(BRCA2):c.6017G>C (p.Ser2006Thr) rs144784912 0.00002
NM_000059.4(BRCA2):c.6738A>G (p.Pro2246=) rs760272304 0.00002
NM_000059.4(BRCA2):c.7534C>T (p.Leu2512Phe) rs80358980 0.00002
NM_000059.4(BRCA2):c.800G>A (p.Gly267Glu) rs80359036 0.00002
NM_000059.4(BRCA2):c.8386C>T (p.Pro2796Ser) rs146120136 0.00002
NM_000059.4(BRCA2):c.8573A>G (p.Gln2858Arg) rs80359114 0.00002
NM_000059.4(BRCA2):c.8739C>G (p.Asp2913Glu) rs786201996 0.00002
NM_000179.3(MSH6):c.3740C>G (p.Thr1247Ser) rs786204182 0.00002
NM_000179.3(MSH6):c.3851C>T (p.Thr1284Met) rs63750836 0.00002
NM_000179.3(MSH6):c.899G>A (p.Arg300Gln) rs55760494 0.00002
NM_000249.4(MLH1):c.1642T>C (p.Tyr548His) rs780317287 0.00002
NM_000249.4(MLH1):c.226G>A (p.Val76Ile) rs878853788 0.00002
NM_000251.3(MSH2):c.232G>A (p.Val78Ile) rs772779997 0.00002
NM_000251.3(MSH2):c.943-6T>C rs768644134 0.00002
NM_000455.5(STK11):c.1108+3G>A rs755746417 0.00002
NM_000455.5(STK11):c.464+5G>A rs587781681 0.00002
NM_000455.5(STK11):c.944C>T (p.Pro315Leu) rs766958608 0.00002
NM_000465.4(BARD1):c.159T>C (p.Cys53=) rs201708813 0.00002
NM_000535.7(PMS2):c.113C>T (p.Ala38Val) rs148270248 0.00002
NM_000535.7(PMS2):c.2264T>C (p.Ile755Thr) rs386833410 0.00002
NM_000546.6(TP53):c.665C>T (p.Pro222Leu) rs146340390 0.00002
NM_004360.5(CDH1):c.388-4T>C rs750722169 0.00002
NM_007194.4(CHEK2):c.1091T>C (p.Ile364Thr) rs774179198 0.00002
NM_007194.4(CHEK2):c.1462-7C>G rs730881707 0.00002
NM_007194.4(CHEK2):c.480A>G (p.Ile160Met) rs575910805 0.00002
NM_007294.4(BRCA1):c.2662C>T (p.His888Tyr) rs80357480 0.00002
NM_024675.4(PALB2):c.1213C>G (p.Pro405Ala) rs545119348 0.00002
NM_024675.4(PALB2):c.149A>C (p.Lys50Thr) rs763598472 0.00002
NM_024675.4(PALB2):c.2417C>T (p.Pro806Leu) rs45464991 0.00002
NM_024675.4(PALB2):c.2755G>A (p.Val919Ile) rs775193384 0.00002
NM_032043.3(BRIP1):c.1377A>C (p.Arg459Ser) rs780310294 0.00002
NM_032043.3(BRIP1):c.518G>A (p.Arg173His) rs761432927 0.00002
NM_032043.3(BRIP1):c.778A>G (p.Thr260Ala) rs138743097 0.00002
NM_032043.3(BRIP1):c.797C>T (p.Thr266Met) rs550031006 0.00002
NM_058216.3(RAD51C):c.106G>A (p.Glu36Lys) rs773998134 0.00002
NM_000051.4(ATM):c.1021G>A (p.Val341Ile) rs200601781 0.00001
NM_000051.4(ATM):c.1675A>G (p.Ile559Val) rs1060501545 0.00001
NM_000051.4(ATM):c.1880T>G (p.Phe627Cys) rs546087885 0.00001
NM_000051.4(ATM):c.1898+3A>G rs200169643 0.00001
NM_000051.4(ATM):c.1899-10T>G rs763685190 0.00001
NM_000051.4(ATM):c.1960C>A (p.Gln654Lys) rs528165789 0.00001
NM_000051.4(ATM):c.2062G>A (p.Glu688Lys) rs769338089 0.00001
NM_000051.4(ATM):c.2074C>T (p.Arg692Cys) rs765965513 0.00001
NM_000051.4(ATM):c.2236T>C (p.Phe746Leu) rs1017383703 0.00001
NM_000051.4(ATM):c.2924A>G (p.Asn975Ser) rs730881354 0.00001
NM_000051.4(ATM):c.4110-4T>C rs777186156 0.00001
NM_000051.4(ATM):c.4420C>G (p.His1474Asp) rs587779840 0.00001
NM_000051.4(ATM):c.4703A>G (p.His1568Arg) rs368830730 0.00001
NM_000051.4(ATM):c.4910-16A>T rs866500582 0.00001
NM_000051.4(ATM):c.5056A>G (p.Ile1686Val) rs145453814 0.00001
NM_000051.4(ATM):c.5063T>C (p.Ile1688Thr) rs199836342 0.00001
NM_000051.4(ATM):c.5080G>A (p.Ala1694Thr) rs756197350 0.00001
NM_000051.4(ATM):c.5417T>C (p.Ile1806Thr) rs773546064 0.00001
NM_000051.4(ATM):c.5524C>T (p.Leu1842Phe) rs956546711 0.00001
NM_000051.4(ATM):c.5971G>A (p.Glu1991Lys) rs786203404 0.00001
NM_000051.4(ATM):c.6452+5T>A rs533830556 0.00001
NM_000051.4(ATM):c.7871G>C (p.Cys2624Ser) rs759392666 0.00001
NM_000051.4(ATM):c.8983C>A (p.Leu2995Ile) rs142322668 0.00001
NM_000051.4(ATM):c.9128A>G (p.Lys3043Arg) rs867893961 0.00001
NM_000059.4(BRCA2):c.1144A>C (p.Lys382Gln) rs371454630 0.00001
NM_000059.4(BRCA2):c.1466C>G (p.Ser489Cys) rs587782535 0.00001
NM_000059.4(BRCA2):c.1769T>G (p.Phe590Cys) rs80358459 0.00001
NM_000059.4(BRCA2):c.1960G>A (p.Glu654Lys) rs786203845 0.00001
NM_000059.4(BRCA2):c.2348T>G (p.Val783Gly) rs768143929 0.00001
NM_000059.4(BRCA2):c.2908G>A (p.Asp970Asn) rs397507295 0.00001
NM_000059.4(BRCA2):c.3661T>C (p.Ser1221Pro) rs80358611 0.00001
NM_000059.4(BRCA2):c.4662T>G (p.Ser1554Arg) rs276174845 0.00001
NM_000059.4(BRCA2):c.5081G>C (p.Arg1694Thr) rs753721331 0.00001
NM_000059.4(BRCA2):c.5191C>A (p.His1731Asn) rs80358745 0.00001
NM_000059.4(BRCA2):c.5723T>C (p.Leu1908Pro) rs80358797 0.00001
NM_000059.4(BRCA2):c.5885T>C (p.Ile1962Thr) rs1060502377 0.00001
NM_000059.4(BRCA2):c.6613G>A (p.Val2205Met) rs80358889 0.00001
NM_000059.4(BRCA2):c.6706G>A (p.Glu2236Lys) rs41293503 0.00001
NM_000059.4(BRCA2):c.6953G>A (p.Arg2318Gln) rs80358921 0.00001
NM_000059.4(BRCA2):c.6986C>T (p.Pro2329Leu) rs80358925 0.00001
NM_000059.4(BRCA2):c.7436-4A>G rs81002904 0.00001
NM_000059.4(BRCA2):c.7484T>C (p.Ile2495Thr) rs80358974 0.00001
NM_000059.4(BRCA2):c.7628A>G (p.Tyr2543Cys) rs431825354 0.00001
NM_000059.4(BRCA2):c.7871A>G (p.Tyr2624Cys) rs431825358 0.00001
NM_000059.4(BRCA2):c.8117A>G (p.Asn2706Ser) rs80359055 0.00001
NM_000059.4(BRCA2):c.811G>A (p.Gly271Arg) rs786204274 0.00001
NM_000059.4(BRCA2):c.8141A>C (p.Gln2714Pro) rs80359059 0.00001
NM_000059.4(BRCA2):c.8275G>C (p.Val2759Leu) rs1320594065 0.00001
NM_000059.4(BRCA2):c.8417C>T (p.Ser2806Leu) rs587782785 0.00001
NM_000059.4(BRCA2):c.8428A>G (p.Ser2810Gly) rs80359089 0.00001
NM_000059.4(BRCA2):c.8686C>T (p.Arg2896Cys) rs373203204 0.00001
NM_000059.4(BRCA2):c.9096A>C (p.Lys3032Asn) rs864622582 0.00001
NM_000059.4(BRCA2):c.9155G>A (p.Arg3052Gln) rs80359171 0.00001
NM_000059.4(BRCA2):c.9538C>T (p.Leu3180Phe) rs200598289 0.00001
NM_000059.4(BRCA2):c.9611C>G (p.Thr3204Ser) rs80359232 0.00001
NM_000059.4(BRCA2):c.9839C>A (p.Pro3280His) rs80359246 0.00001
NM_000179.3(MSH6):c.1061G>T (p.Gly354Val) rs730881788 0.00001
NM_000179.3(MSH6):c.1599G>C (p.Glu533Asp) rs373726731 0.00001
NM_000179.3(MSH6):c.161G>C (p.Gly54Ala) rs63751098 0.00001
NM_000179.3(MSH6):c.2175C>G (p.Ile725Met) rs63750304 0.00001
NM_000179.3(MSH6):c.2603T>C (p.Met868Thr) rs780280765 0.00001
NM_000179.3(MSH6):c.3565A>G (p.Thr1189Ala) rs753778809 0.00001
NM_000179.3(MSH6):c.4039G>C (p.Ala1347Pro) rs730881809 0.00001
NM_000179.3(MSH6):c.503C>G (p.Ala168Gly) rs774162322 0.00001
NM_000179.3(MSH6):c.898C>T (p.Arg300Trp) rs779858670 0.00001
NM_000179.3(MSH6):c.980C>G (p.Thr327Ser) rs369568820 0.00001
NM_000249.4(MLH1):c.1038+8C>A rs751872237 0.00001
NM_000249.4(MLH1):c.1216A>G (p.Ser406Gly) rs864622687 0.00001
NM_000249.4(MLH1):c.1243G>A (p.Asp415Asn) rs373767220 0.00001
NM_000249.4(MLH1):c.1460G>A (p.Arg487Gln) rs587778917 0.00001
NM_000249.4(MLH1):c.1817G>C (p.Gly606Ala) rs1355248187 0.00001
NM_000249.4(MLH1):c.306+4A>G rs267607733 0.00001
NM_000249.4(MLH1):c.343A>G (p.Ile115Val) rs371667663 0.00001
NM_000251.3(MSH2):c.-8G>A rs1064795641 0.00001
NM_000251.3(MSH2):c.1077-3C>T rs758182607 0.00001
NM_000251.3(MSH2):c.1145G>A (p.Arg382His) rs267607947 0.00001
NM_000251.3(MSH2):c.1378A>G (p.Met460Val) rs575905950 0.00001
NM_000251.3(MSH2):c.1571G>A (p.Arg524His) rs63751207 0.00001
NM_000251.3(MSH2):c.1622C>T (p.Thr541Ile) rs864622079 0.00001
NM_000251.3(MSH2):c.2710A>G (p.Ile904Val) rs1463743654 0.00001
NM_000251.3(MSH2):c.2726A>G (p.Lys909Arg) rs34319539 0.00001
NM_000251.3(MSH2):c.2728C>A (p.Gln910Lys) rs775130557 0.00001
NM_000251.3(MSH2):c.646-3T>C rs267607930 0.00001
NM_000314.8(PTEN):c.210-9T>C rs751744545 0.00001
NM_000314.8(PTEN):c.841C>G (p.Pro281Ala) rs750705904 0.00001
NM_000455.5(STK11):c.-1C>T rs759284466 0.00001
NM_000455.5(STK11):c.1189G>T (p.Ala397Ser) rs587780008 0.00001
NM_000455.5(STK11):c.1249G>T (p.Ala417Ser) rs587782876 0.00001
NM_000455.5(STK11):c.1283C>T (p.Ser428Leu) rs587781537 0.00001
NM_000455.5(STK11):c.299A>G (p.Gln100Arg) rs1060499957 0.00001
NM_000455.5(STK11):c.464+4C>T rs373167735 0.00001
NM_000455.5(STK11):c.465-10C>G rs1060503780 0.00001
NM_000455.5(STK11):c.632G>A (p.Arg211Gln) rs730881982 0.00001
NM_000465.4(BARD1):c.1016G>A (p.Ser339Asn) rs201261729 0.00001
NM_000465.4(BARD1):c.161C>G (p.Thr54Ser) rs879253878 0.00001
NM_000535.7(PMS2):c.1092T>A (p.Asp364Glu) rs370066853 0.00001
NM_000535.7(PMS2):c.1164T>A (p.His388Gln) rs768480216 0.00001
NM_000535.7(PMS2):c.1189G>A (p.Val397Ile) rs573123885 0.00001
NM_000535.7(PMS2):c.1420G>T (p.Ala474Ser) rs373114291 0.00001
NM_000535.7(PMS2):c.14A>T (p.Glu5Val) rs876659080 0.00001
NM_000535.7(PMS2):c.1723A>G (p.Asn575Asp) rs142506484 0.00001
NM_000535.7(PMS2):c.1952A>G (p.Lys651Arg) rs267608167 0.00001
NM_000535.7(PMS2):c.2036T>C (p.Ile679Thr) rs778251286 0.00001
NM_000535.7(PMS2):c.2386G>A (p.Val796Ile) rs368737800 0.00001
NM_000535.7(PMS2):c.354-5C>G rs200591010 0.00001
NM_000535.7(PMS2):c.354-7C>T rs758471869 0.00001
NM_000535.7(PMS2):c.354C>T (p.Ser118=) rs760615315 0.00001
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro) rs587779342 0.00001
NM_000535.7(PMS2):c.904G>T (p.Val302Phe) rs755960629 0.00001
NM_000546.6(TP53):c.328C>T (p.Arg110Cys) rs587781371 0.00001
NM_000546.6(TP53):c.672+6G>T rs766856111 0.00001
NM_000546.6(TP53):c.74+9A>C rs1057517593 0.00001
NM_002878.4(RAD51D):c.667+9T>C rs772193051 0.00001
NM_004360.5(CDH1):c.2369C>T (p.Thr790Ile) rs587780120 0.00001
NM_004360.5(CDH1):c.574A>G (p.Ile192Val) rs376102028 0.00001
NM_004360.5(CDH1):c.724G>A (p.Val242Ile) rs111662525 0.00001
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys) rs201206424 0.00001
NM_007194.4(CHEK2):c.1154G>A (p.Cys385Tyr) rs145324174 0.00001
NM_007194.4(CHEK2):c.427C>T (p.His143Tyr) rs1060502688 0.00001
NM_007194.4(CHEK2):c.451G>T (p.Gly151Cys) rs587781377 0.00001
NM_007194.4(CHEK2):c.578T>C (p.Leu193Pro) rs766599514 0.00001
NM_007194.4(CHEK2):c.949A>G (p.Lys317Glu) rs587782416 0.00001
NM_007294.4(BRCA1):c.1396C>T (p.Arg466Trp) rs80356964 0.00001
NM_007294.4(BRCA1):c.154C>T (p.Leu52Phe) rs80357084 0.00001
NM_007294.4(BRCA1):c.1712T>C (p.Ile571Thr) rs80357159 0.00001
NM_007294.4(BRCA1):c.2050C>T (p.Pro684Ser) rs397508934 0.00001
NM_007294.4(BRCA1):c.230C>T (p.Thr77Met) rs80357209 0.00001
NM_007294.4(BRCA1):c.2597G>A (p.Arg866His) rs80356911 0.00001
NM_007294.4(BRCA1):c.2630A>G (p.Asn877Ser) rs786203689 0.00001
NM_007294.4(BRCA1):c.2758G>A (p.Val920Ile) rs80357361 0.00001
NM_007294.4(BRCA1):c.2791G>T (p.Val931Leu) rs763639161 0.00001
NM_007294.4(BRCA1):c.2930C>T (p.Pro977Leu) rs141465583 0.00001
NM_007294.4(BRCA1):c.3711A>G (p.Ile1237Met) rs80357388 0.00001
NM_007294.4(BRCA1):c.4115G>A (p.Cys1372Tyr) rs55848034 0.00001
NM_007294.4(BRCA1):c.4126A>G (p.Thr1376Ala) rs576828558 0.00001
NM_007294.4(BRCA1):c.4520G>C (p.Arg1507Thr) rs80357470 0.00001
NM_007294.4(BRCA1):c.4843G>A (p.Ala1615Thr) rs80356987 0.00001
NM_007294.4(BRCA1):c.4903G>A (p.Glu1635Lys) rs200432771 0.00001
NM_007294.4(BRCA1):c.5022C>T (p.Ile1674=) rs786203868 0.00001
NM_007294.4(BRCA1):c.5506G>A (p.Glu1836Lys) rs80356942 0.00001
NM_024675.4(PALB2):c.2087C>T (p.Thr696Met) rs587780820 0.00001
NM_024675.4(PALB2):c.2207C>T (p.Ala736Val) rs746056001 0.00001
NM_024675.4(PALB2):c.2514+3A>G rs515726088 0.00001
NM_024675.4(PALB2):c.2586G>C (p.Lys862Asn) rs876658279 0.00001
NM_024675.4(PALB2):c.3061G>A (p.Gly1021Arg) rs143808171 0.00001
NM_024675.4(PALB2):c.3073G>A (p.Ala1025Thr) rs746872839 0.00001
NM_024675.4(PALB2):c.749T>C (p.Leu250Ser) rs774675771 0.00001
NM_024675.4(PALB2):c.844A>G (p.Arg282Gly) rs45447991 0.00001
NM_024675.4(PALB2):c.928A>G (p.Ser310Gly) rs45561331 0.00001
NM_032043.3(BRIP1):c.1742G>A (p.Arg581Gln) rs587778133 0.00001
NM_032043.3(BRIP1):c.2056A>G (p.Thr686Ala) rs769820537 0.00001
NM_032043.3(BRIP1):c.254C>T (p.Ser85Leu) rs587781830 0.00001
NM_032043.3(BRIP1):c.2686A>G (p.Ile896Val) rs764406913 0.00001
NM_032043.3(BRIP1):c.3199T>A (p.Cys1067Ser) rs878855153 0.00001
NM_032043.3(BRIP1):c.655T>C (p.Cys219Arg) rs730881630 0.00001
NM_032043.3(BRIP1):c.823A>G (p.Ile275Val) rs587781425 0.00001
NM_058216.3(RAD51C):c.1109G>A (p.Arg370Gln) rs373170458 0.00001
NM_058216.3(RAD51C):c.620A>G (p.His207Arg) rs587781921 0.00001
NM_000051.4(ATM):c.1079A>C (p.Asp360Ala) rs775767808
NM_000051.4(ATM):c.1166T>C (p.Ile389Thr) rs757486696
NM_000051.4(ATM):c.1354A>G (p.Thr452Ala) rs1324524747
NM_000051.4(ATM):c.137A>G (p.His46Arg) rs1591447177
NM_000051.4(ATM):c.1504G>A (p.Ala502Thr) rs2080112799
NM_000051.4(ATM):c.1642A>G (p.Thr548Ala) rs878853486
NM_000051.4(ATM):c.1703G>A (p.Arg568Lys) rs200381392
NM_000051.4(ATM):c.2033T>C (p.Ile678Thr) rs1485409783
NM_000051.4(ATM):c.2158C>T (p.Arg720Cys) rs565622131
NM_000051.4(ATM):c.2411T>G (p.Leu804Arg)
NM_000051.4(ATM):c.2926G>A (p.Val976Met) rs1178628574
NM_000051.4(ATM):c.3153+9T>C rs770464168
NM_000051.4(ATM):c.3154-4G>A rs199543313
NM_000051.4(ATM):c.3226C>G (p.Gln1076Glu) rs2135571727
NM_000051.4(ATM):c.332-7G>T rs1591474291
NM_000051.4(ATM):c.3343C>T (p.Leu1115Phe) rs752339681
NM_000051.4(ATM):c.3993+6G>A rs878853508
NM_000051.4(ATM):c.399T>A (p.Asn133Lys) rs1555059218
NM_000051.4(ATM):c.4151A>T (p.His1384Leu)
NM_000051.4(ATM):c.4196C>G (p.Thr1399Ser) rs786203761
NM_000051.4(ATM):c.4627A>G (p.Lys1543Glu)
NM_000051.4(ATM):c.4932G>C (p.Met1644Ile) rs730881371
NM_000051.4(ATM):c.508G>A (p.Val170Met) rs786202781
NM_000051.4(ATM):c.5178-7T>C rs1555105564
NM_000051.4(ATM):c.649_651dup (p.Ile217dup) rs1565369864
NM_000051.4(ATM):c.6689T>C (p.Ile2230Thr) rs587781562
NM_000051.4(ATM):c.6760C>T (p.His2254Tyr) rs2136316772
NM_000051.4(ATM):c.68G>A (p.Arg23Gln) rs587779858
NM_000051.4(ATM):c.6968G>A (p.Cys2323Tyr) rs876660924
NM_000051.4(ATM):c.7858G>C (p.Val2620Leu) rs1427723678
NM_000051.4(ATM):c.7976T>C (p.Leu2659Ser) rs1565538536
NM_000051.4(ATM):c.8015A>C (p.Asp2672Ala) rs763161651
NM_000051.4(ATM):c.8845G>A (p.Val2949Ile) rs587782497
NM_000051.4(ATM):c.8851-10C>T rs1057521676
NM_000051.4(ATM):c.9106A>G (p.Ile3036Val) rs1565609567
NM_000051.4(ATM):c.974A>G (p.His325Arg) rs1565375244
NM_000059.3(BRCA2):c.2077_2083delinsAACAGTT (p.Cys693_Lys695delinsAsnSerTer) rs1566226077
NM_000059.4(BRCA2):c.-39-12_-39-10del rs276174798
NM_000059.4(BRCA2):c.10051G>C (p.Ala3351Pro) rs786204285
NM_000059.4(BRCA2):c.1267A>G (p.Ile423Val) rs1555281802
NM_000059.4(BRCA2):c.1400A>G (p.Lys467Arg) rs1555281893
NM_000059.4(BRCA2):c.1480G>A (p.Val494Met) rs1555281919
NM_000059.4(BRCA2):c.162CAA[1] (p.Asn56del) rs11571587
NM_000059.4(BRCA2):c.1756A>G (p.Lys586Glu) rs397507275
NM_000059.4(BRCA2):c.2030C>A (p.Ser677Tyr) rs1555282410
NM_000059.4(BRCA2):c.2045T>C (p.Ile682Thr) rs398122739
NM_000059.4(BRCA2):c.2198T>G (p.Val733Gly) rs1135401897
NM_000059.4(BRCA2):c.2254_2257del (p.Asp752fs) rs80359326
NM_000059.4(BRCA2):c.2396A>G (p.Lys799Arg) rs1555282656
NM_000059.4(BRCA2):c.2803G>C (p.Asp935His) rs28897716
NM_000059.4(BRCA2):c.2857GAG[1] (p.Glu954del) rs80359360
NM_000059.4(BRCA2):c.2999T>C (p.Ile1000Thr) rs374769365
NM_000059.4(BRCA2):c.3447G>A (p.Met1149Ile) rs876660471
NM_000059.4(BRCA2):c.3512C>T (p.Pro1171Leu) rs1566228707
NM_000059.4(BRCA2):c.3540G>C (p.Lys1180Asn) rs864622363
NM_000059.4(BRCA2):c.3858_3860del (p.Lys1286del) rs80359406
NM_000059.4(BRCA2):c.3861TAA[1] (p.Asn1288del) rs276174837
NM_000059.4(BRCA2):c.3965A>C (p.Asn1322Thr) rs80358646
NM_000059.4(BRCA2):c.4054G>T (p.Asp1352Tyr) rs80358655
NM_000059.4(BRCA2):c.4070T>G (p.Leu1357Arg) rs55796504
NM_000059.4(BRCA2):c.4090A>G (p.Ile1364Val) rs56248502
NM_000059.4(BRCA2):c.4118T>C (p.Met1373Thr) rs750581150
NM_000059.4(BRCA2):c.4143AGA[1] (p.Glu1382del) rs80359432
NM_000059.4(BRCA2):c.4591A>G (p.Lys1531Glu) rs1555283865
NM_000059.4(BRCA2):c.4825A>G (p.Thr1609Ala) rs876659201
NM_000059.4(BRCA2):c.4942G>A (p.Ala1648Thr) rs786202248
NM_000059.4(BRCA2):c.5028T>A (p.Ser1676Arg) rs762458631
NM_000059.4(BRCA2):c.5260G>A (p.Asp1754Asn) rs771571938
NM_000059.4(BRCA2):c.5644T>C (p.Ser1882Pro) rs730881538
NM_000059.4(BRCA2):c.5737T>G (p.Cys1913Gly) rs80358799
NM_000059.4(BRCA2):c.5806A>G (p.Met1936Val) rs1566233265
NM_000059.4(BRCA2):c.5860A>G (p.Thr1954Ala) rs1566233345
NM_000059.4(BRCA2):c.5987C>G (p.Ala1996Gly) rs80358834
NM_000059.4(BRCA2):c.6131G>C (p.Gly2044Ala) rs56191579
NM_000059.4(BRCA2):c.6269A>G (p.His2090Arg) rs397507366
NM_000059.4(BRCA2):c.6481_6489del (p.Asp2161_Gln2163del)
NM_000059.4(BRCA2):c.6691_6692delinsTT (p.Ala2231Phe) rs1057517557
NM_000059.4(BRCA2):c.676A>G (p.Thr226Ala) rs80358902
NM_000059.4(BRCA2):c.6796A>C (p.Asn2266His) rs80358905
NM_000059.4(BRCA2):c.68-6A>T rs1555280325
NM_000059.4(BRCA2):c.6952C>G (p.Arg2318Gly) rs80358920
NM_000059.4(BRCA2):c.7009A>G (p.Thr2337Ala) rs431825348
NM_000059.4(BRCA2):c.7039C>G (p.Pro2347Ala) rs876660668
NM_000059.4(BRCA2):c.7095T>A (p.His2365Gln) rs370708814
NM_000059.4(BRCA2):c.7313A>G (p.Asp2438Gly) rs80358957
NM_000059.4(BRCA2):c.739A>G (p.Ile247Val) rs1169190081
NM_000059.4(BRCA2):c.7435+5T>C rs775973095
NM_000059.4(BRCA2):c.7436-10T>C rs398122582
NM_000059.4(BRCA2):c.7440A>C (p.Leu2480Phe) rs2072694906
NM_000059.4(BRCA2):c.7786G>A (p.Gly2596Arg) rs398122591
NM_000059.4(BRCA2):c.7862A>G (p.Tyr2621Cys)
NM_000059.4(BRCA2):c.7868A>T (p.His2623Leu) rs80359012
NM_000059.4(BRCA2):c.7992T>G (p.Ile2664Met) rs80359800
NM_000059.4(BRCA2):c.8034_8046delinsA (p.Asp2679_Ala2682del) rs886040866
NM_000059.4(BRCA2):c.8229_8243del (p.Arg2744_Gly2748del) rs80359698
NM_000059.4(BRCA2):c.8276T>C (p.Val2759Ala)
NM_000059.4(BRCA2):c.8324T>G (p.Met2775Arg) rs80359073
NM_000059.4(BRCA2):c.8346T>G (p.Ser2782Arg) rs1566248645
NM_000059.4(BRCA2):c.8431G>C (p.Asp2811His) rs1566248867
NM_000059.4(BRCA2):c.8542G>C (p.Glu2848Gln) rs587781893
NM_000059.4(BRCA2):c.8614G>A (p.Glu2872Lys) rs1555287788
NM_000059.4(BRCA2):c.8639C>A (p.Thr2880Lys)
NM_000059.4(BRCA2):c.8992T>G (p.Ser2998Ala)
NM_000059.4(BRCA2):c.9019A>G (p.Arg3007Gly) rs397507417
NM_000059.4(BRCA2):c.9104A>C (p.Tyr3035Ser) rs80359165
NM_000059.4(BRCA2):c.9256+10A>G rs431825375
NM_000059.4(BRCA2):c.9257G>C (p.Gly3086Ala) rs574271678
NM_000059.4(BRCA2):c.92G>T (p.Trp31Leu) rs397508045
NM_000059.4(BRCA2):c.9898C>T (p.Pro3300Ser) rs770868371
NM_000059.4(BRCA2):c.9936A>G (p.Ile3312Met) rs80359255
NM_000059.4(BRCA2):c.9997_9998del (p.Leu3333fs) rs730881621
NM_000179.3(MSH6):c.1955G>C (p.Gly652Ala) rs1558663683
NM_000179.3(MSH6):c.1971G>C (p.Gln657His) rs1553413339
NM_000179.3(MSH6):c.2078A>C (p.Lys693Thr)
NM_000179.3(MSH6):c.2398G>A (p.Val800Ile) rs61748083
NM_000179.3(MSH6):c.3090G>T (p.Lys1030Asn)
NM_000179.3(MSH6):c.3101G>A (p.Arg1034Gln) rs181727939
NM_000179.3(MSH6):c.3259C>G (p.Pro1087Ala) rs63750998
NM_000179.3(MSH6):c.3260C>G (p.Pro1087Arg) rs63750753
NM_000179.3(MSH6):c.3348C>G (p.Gly1116=) rs771833309
NM_000179.3(MSH6):c.3383A>C (p.Tyr1128Ser)
NM_000179.3(MSH6):c.3438+8dup rs878853734
NM_000179.3(MSH6):c.3680T>C (p.Ile1227Thr)
NM_000179.3(MSH6):c.41C>T (p.Ser14Phe) rs863224628
NM_000179.3(MSH6):c.782C>G (p.Ser261Cys) rs876661250
NM_000179.3(MSH6):c.866_867delinsAA (p.Gly289Glu) rs267608079
NM_000179.3(MSH6):c.922G>A (p.Gly308Ser) rs370174372
NM_000179.3(MSH6):c.95G>T (p.Gly32Val) rs771426932
NM_000249.4(MLH1):c.1039-9_1039-8dup rs57509953
NM_000249.4(MLH1):c.1136A>C (p.Tyr379Ser) rs143009528
NM_000249.4(MLH1):c.37G>A (p.Glu13Lys) rs587779008
NM_000249.4(MLH1):c.381-5A>G rs1060504016
NM_000249.4(MLH1):c.589-9_589-6del rs587779026
NM_000249.4(MLH1):c.68A>G (p.Glu23Gly) rs750969880
NM_000249.4(MLH1):c.71T>G (p.Val24Gly) rs754533438
NM_000249.4(MLH1):c.91_92delinsTG (p.Ala31Cys) rs63749994
NM_000251.2(MSH2):c.-82G>C rs866991159
NM_000251.3(MSH2):c.1394A>G (p.Asn465Ser) rs1487094949
NM_000251.3(MSH2):c.1776G>T (p.Met592Ile) rs1384503379
NM_000251.3(MSH2):c.1922G>A (p.Cys641Tyr) rs786204110
NM_000251.3(MSH2):c.2039G>T (p.Arg680Leu) rs1203462814
NM_000251.3(MSH2):c.2065G>T (p.Ala689Ser) rs914610419
NM_000251.3(MSH2):c.2392AAT[1] (p.Asn799del) rs1573574468
NM_000251.3(MSH2):c.23C>G (p.Thr8Arg) rs17217716
NM_000251.3(MSH2):c.2558A>G (p.Glu853Gly) rs63750797
NM_000251.3(MSH2):c.2615A>G (p.Lys872Arg) rs587780686
NM_000251.3(MSH2):c.448G>A (p.Val150Ile) rs1558459157
NM_000251.3(MSH2):c.470G>C (p.Gly157Ala) rs765489269
NM_000251.3(MSH2):c.62_63delinsTT (p.Arg21Leu) rs1060501996
NM_000251.3(MSH2):c.92C>G (p.Thr31Ser) rs746635262
NM_000314.8(PTEN):c.*10del rs756681683
NM_000314.8(PTEN):c.253+7A>G rs2132239067
NM_000314.8(PTEN):c.801+9T>C rs1060503839
NM_000314.8(PTEN):c.802-5_802-3del rs34003473
NM_000314.8(PTEN):c.838A>G (p.Ile280Val) rs1474354667
NM_000314.8(PTEN):c.949G>A (p.Val317Ile) rs876658630
NM_000455.5(STK11):c.1046A>C (p.Glu349Ala) rs757815836
NM_000455.5(STK11):c.112C>G (p.Pro38Ala) rs1060499954
NM_000455.5(STK11):c.1253G>C (p.Cys418Ser) rs878853986
NM_000455.5(STK11):c.312G>C (p.Arg104Ser) rs780749732
NM_000455.5(STK11):c.440G>A (p.Arg147His) rs587780717
NM_000455.5(STK11):c.465-4G>A rs587780009
NM_000455.5(STK11):c.721G>A (p.Ala241Thr) rs587780721
NM_000465.4(BARD1):c.*8A>G
NM_000465.4(BARD1):c.1568+6T>A rs1553619192
NM_000465.4(BARD1):c.157T>G (p.Cys53Gly) rs1354779388
NM_000465.4(BARD1):c.505A>G (p.Ile169Val) rs765494437
NM_000465.4(BARD1):c.941T>C (p.Leu314Ser) rs199857391
NM_000535.7(PMS2):c.1012C>G (p.Pro338Ala) rs876660508
NM_000535.7(PMS2):c.1360_1361delinsTC (p.Leu454Ser) rs587778615
NM_000535.7(PMS2):c.1495A>G (p.Thr499Ala) rs1060503117
NM_000535.7(PMS2):c.1535G>T (p.Gly512Val)
NM_000535.7(PMS2):c.1688_1689delinsAG (p.Arg563Gln) rs587780725
NM_000535.7(PMS2):c.1733G>A (p.Arg578His) rs63750770
NM_000535.7(PMS2):c.2007-6C>G rs376018314
NM_000535.7(PMS2):c.2127C>A (p.Phe709Leu)
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs) rs587779335
NM_000535.7(PMS2):c.2335G>C (p.Gly779Arg)
NM_000535.7(PMS2):c.2380C>T (p.Pro794Ser) rs773393960
NM_000535.7(PMS2):c.2480T>C (p.Met827Thr)
NM_000535.7(PMS2):c.5A>G (p.Glu2Gly) rs876658233
NM_000535.7(PMS2):c.775T>C (p.Cys259Arg) rs1554301455
NM_000535.7(PMS2):c.952T>C (p.Tyr318His)
NM_000546.6(TP53):c.292C>T (p.Pro98Ser) rs1597374015
NM_000546.6(TP53):c.382C>A (p.Pro128Thr) rs1555526327
NM_000546.6(TP53):c.408A>T (p.Gln136His) rs758781593
NM_000546.6(TP53):c.470T>G (p.Val157Gly) rs1131691023
NM_000546.6(TP53):c.672+6_672+8delinsTTG rs2073318029
NM_000546.6(TP53):c.672+8T>G rs763373602
NM_000546.6(TP53):c.808T>C (p.Phe270Leu) rs1057519988
NM_002878.4(RAD51D):c.766G>C (p.Asp256His) rs1567725026
NM_004360.5(CDH1):c.1240A>G (p.Thr414Ala) rs863224723
NM_004360.5(CDH1):c.1316C>T (p.Ala439Val)
NM_004360.5(CDH1):c.1388A>C (p.Glu463Ala) rs2152134806
NM_004360.5(CDH1):c.1424T>C (p.Val475Ala) rs1060501217
NM_004360.5(CDH1):c.164-7C>G
NM_004360.5(CDH1):c.1712-14G>A rs2152138120
NM_004360.5(CDH1):c.1937-6C>T rs753223955
NM_004360.5(CDH1):c.2199G>C (p.Arg733Ser) rs1555517637
NM_004360.5(CDH1):c.263C>G (p.Pro88Arg) rs1381409755
NM_004360.5(CDH1):c.383A>C (p.His128Pro)
NM_004360.5(CDH1):c.531+20G>C
NM_004360.5(CDH1):c.674T>C (p.Ile225Thr) rs786203207
NM_007194.4(CHEK2):c.1000G>C (p.Ala334Pro) rs864622371
NM_007194.4(CHEK2):c.1033C>T (p.His345Tyr) rs864622537
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys) rs587782527
NM_007194.4(CHEK2):c.1567del (p.Arg523fs) rs587782684
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1]) rs587780181
NM_007194.4(CHEK2):c.445-4T>A
NM_007194.4(CHEK2):c.494G>A (p.Gly165Asp) rs876660846
NM_007194.4(CHEK2):c.613A>T (p.Thr205Ser) rs587780187
NM_007194.4(CHEK2):c.797C>T (p.Pro266Leu) rs786203778
NM_007194.4(CHEK2):c.80A>C (p.Gln27Pro) rs1060502697
NM_007194.4(CHEK2):c.980A>T (p.Tyr327Phe) rs587780194
NM_007294.3(BRCA1):c.302_441dup rs1567810007
NM_007294.4(BRCA1):c.1390A>G (p.Thr464Ala) rs869320787
NM_007294.4(BRCA1):c.1396C>G (p.Arg466Gly) rs80356964
NM_007294.4(BRCA1):c.1405G>A (p.Ala469Thr) rs397507187
NM_007294.4(BRCA1):c.2296A>C (p.Ser766Arg) rs398122655
NM_007294.4(BRCA1):c.2338C>G (p.Gln780Glu) rs80356945
NM_007294.4(BRCA1):c.2372T>C (p.Leu791Pro)
NM_007294.4(BRCA1):c.2397T>A (p.Asn799Lys) rs80357203
NM_007294.4(BRCA1):c.242A>T (p.Gln81Leu) rs886040862
NM_007294.4(BRCA1):c.2527A>G (p.Thr843Ala) rs80357435
NM_007294.4(BRCA1):c.2668G>A (p.Gly890Arg) rs80357200
NM_007294.4(BRCA1):c.2870A>C (p.Gln957Pro) rs1567793946
NM_007294.4(BRCA1):c.3037G>C (p.Glu1013Gln)
NM_007294.4(BRCA1):c.3308G>A (p.Cys1103Tyr) rs80357135
NM_007294.4(BRCA1):c.3437G>C (p.Cys1146Ser) rs80357247
NM_007294.4(BRCA1):c.381T>G (p.Ser127Arg) rs945168715
NM_007294.4(BRCA1):c.3852C>A (p.His1284Gln) rs776070899
NM_007294.4(BRCA1):c.4060AAT[1] (p.Asn1355del) rs80358341
NM_007294.4(BRCA1):c.4357+7A>G rs431825407
NM_007294.4(BRCA1):c.4485-8C>A rs397507234
NM_007294.4(BRCA1):c.4885dup (p.Glu1629fs) rs886040254
NM_007294.4(BRCA1):c.4955T>A (p.Met1652Lys) rs80356968
NM_007294.4(BRCA1):c.4955_4956delinsAA (p.Met1652Lys) rs1597830347
NM_007294.4(BRCA1):c.4987-4del rs1567772535
NM_007294.4(BRCA1):c.5306A>G (p.Tyr1769Cys) rs397509257
NM_007294.4(BRCA1):c.5334T>A (p.Asp1778Glu) rs754152768
NM_007294.4(BRCA1):c.5406+9T>C rs80358040
NM_007294.4(BRCA1):c.547+14del rs273902771
NM_007294.4(BRCA1):c.670G>A (p.Ala224Thr) rs431825419
NM_007294.4(BRCA1):c.954T>A (p.His318Gln) rs1135401826
NM_024675.4(PALB2):c.129G>T (p.Lys43Asn) rs551111938
NM_024675.4(PALB2):c.1424C>T (p.Ser475Leu) rs886039479
NM_024675.4(PALB2):c.3202-8G>T rs367979106
NM_024675.4(PALB2):c.3209T>C (p.Leu1070Pro) rs863224785
NM_024675.4(PALB2):c.3307G>C (p.Val1103Leu) rs201657283
NM_024675.4(PALB2):c.3540A>G (p.Ile1180Met) rs1966395358
NM_032043.3(BRIP1):c.1040T>C (p.Leu347Pro) rs786201819
NM_032043.3(BRIP1):c.1045G>A (p.Ala349Thr) rs149364097
NM_032043.3(BRIP1):c.1141-7_1141-3del rs1060501744
NM_032043.3(BRIP1):c.1430T>C (p.Leu477Ser)
NM_032043.3(BRIP1):c.1626C>G (p.Ser542Arg)
NM_032043.3(BRIP1):c.1629-4C>A
NM_032043.3(BRIP1):c.1795-12_1795-10del rs1475317357
NM_032043.3(BRIP1):c.1972C>G (p.Arg658Gly) rs786203170
NM_032043.3(BRIP1):c.2542C>G (p.Arg848Gly) rs45572934
NM_032043.3(BRIP1):c.258_269del (p.Cys87_Cys90del) rs730881648
NM_032043.3(BRIP1):c.2710G>A (p.Asp904Asn) rs1555573413
NM_032043.3(BRIP1):c.2906-7T>C rs1237575383
NM_032043.3(BRIP1):c.3374_3376del (p.Ala1125del) rs745344948
NM_032043.3(BRIP1):c.3411_3412delinsCT (p.Asp1138Tyr) rs1555572620
NM_032043.3(BRIP1):c.397A>G (p.Thr133Ala) rs764256720
NM_032043.3(BRIP1):c.856C>T (p.Pro286Ser) rs770289817
NM_058216.3(RAD51C):c.244C>T (p.His82Tyr) rs1555593593
NM_058216.3(RAD51C):c.395C>G (p.Thr132Arg) rs730881930
NM_058216.3(RAD51C):c.511G>A (p.Asp171Asn) rs2143747843
NM_058216.3(RAD51C):c.718A>T (p.Ile240Leu) rs863224806
NM_058216.3(RAD51C):c.955C>G (p.Arg319Gly) rs587781287

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