ClinVar Miner

Variants from Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) with conflicting interpretations

Location: Australia  Primary collection method: curation
Minimum review status of the submission from Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA): Collection method of the submission from Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA):
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
2915 3823 0 453 375 0 60 690

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All submitters
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 161 52 0 0
uncertain significance 3 1 0 1 0
likely benign 2 0 98 0 54
benign 3 0 276 238 0

Submitter to submitter summary #

Total submitters: 56
Download table as spreadsheet
Submitter Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
Counsyl 0 445 0 200 31 0 2 233
Breast Cancer Information Core (BIC) (BRCA1) 0 765 0 6 172 0 33 211
Breast Cancer Information Core (BIC) (BRCA2) 0 779 0 13 165 0 15 193
Illumina Laboratory Services, Illumina 0 65 0 82 48 0 0 130
Mendelics 0 101 0 82 0 0 0 82
Sharing Clinical Reports Project (SCRP) 0 942 0 53 21 0 7 81
All of Us Research Program, National Institutes of Health 0 516 0 51 9 0 0 60
Michigan Medical Genetics Laboratories, University of Michigan 0 200 0 20 7 0 0 27
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 124 0 26 0 0 0 26
Baylor Genetics 0 326 0 21 3 0 0 24
Pathway Genomics 0 34 0 22 0 0 2 24
Fulgent Genetics, Fulgent Genetics 0 13 0 18 2 0 0 20
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 202 0 18 0 0 0 18
Department of Pathology and Laboratory Medicine, Sinai Health System 0 64 0 13 4 0 0 17
Department of Medical Genetics, University Hospital of North Norway 0 3 0 9 2 0 0 11
Institute of Human Genetics, University of Leipzig Medical Center 0 92 0 6 4 0 1 11
Dasa 0 87 0 9 1 0 0 10
deCODE genetics, Amgen 0 5 0 7 0 0 1 8
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 185 0 6 0 0 0 6
Department of Medical Genetics, Oslo University Hospital 0 160 0 5 0 0 0 5
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 227 0 4 1 0 0 5
OMIM 0 40 0 0 3 0 2 5
Quest Diagnostics Nichols Institute San Juan Capistrano 0 68 0 4 0 0 1 5
King Laboratory, University of Washington 0 5 0 0 0 0 4 4
University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM) 0 11 0 4 0 0 0 4
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 6 0 3 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 21 0 3 0 0 0 3
Molecular Endocrinology Laboratory, Christian Medical College 0 22 0 1 2 0 0 3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 1 2 0 0 3
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 13 0 0 1 0 2 3
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 0 0 2 0 0 0 2
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 2 0 2 0 0 0 2
Institute of Human Genetics, Medical University Innsbruck 0 38 0 2 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 0 0 2 0 0 2
Laboratoire de Biologie et Génétique du Cancer, Centre François Baclesse 0 1 0 0 1 0 1 2
Myriad Genetics, Inc. 0 52 0 2 0 0 0 2
Strand Center for Genomics and Personalized Medicine, Strand Life Sciences Pvt Ltd 0 0 0 2 0 0 0 2
3billion 0 7 0 1 0 0 0 1
Clinical Cancer Genomics Laboratory, City of Hope Comprehensive Cancer Center 0 0 0 1 0 0 0 1
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 2790 0 0 0 0 1 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 32 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 6 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 2 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 9 0 0 0 0 1 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 22 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 74 0 1 0 0 0 1
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. 0 0 0 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 1 0 0 0 1
Istenhegyi Gendiagnosztika Kft 0 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 0 1 0 0 1
MGZ Medical Genetics Center 0 43 0 1 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 0 1 0 1 0 0 0 1
Molecular Pathology, Peter Maccallum Cancer Centre 0 121 0 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 36 0 1 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 8 0 0 0 0 1 1
Variantyx, Inc. 0 48 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 690
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.213-161A>G rs799912 0.49377
NM_007294.4(BRCA1):c.-19-115T>C rs3765640 0.31641
NM_007294.4(BRCA1):c.4485-63C>G rs273900734 0.30900
NM_007294.4(BRCA1):c.547+146A>T rs8176140 0.30790
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) rs144848 0.23116
NM_000059.4(BRCA2):c.681+56C>T rs2126042 0.21010
NM_000059.4(BRCA2):c.*105A>C rs15869 0.15131
NM_007294.4(BRCA1):c.4357+117G>A rs3737559 0.06818
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950 0.04695
NM_000059.4(BRCA2):c.426-89T>C rs3783265 0.04105
NM_000059.4(BRCA2):c.9257-83G>A rs9595456 0.04086
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426 0.03864
NM_000059.4(BRCA2):c.425+67A>C rs11571610 0.03705
NM_000059.4(BRCA2):c.7397= (p.Val2466=) rs169547 0.01961
NM_007294.4(BRCA1):c.5075-53C>T rs8176258 0.01914
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117 0.01796
NM_007294.4(BRCA1):c.*36C>G rs3092995 0.01385
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967 0.01348
NM_000059.4(BRCA2):c.8460A>C (p.Val2820=) rs9590940 0.01220
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047 0.01180
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852 0.01109
NM_007294.4(BRCA1):c.5406+68T>C rs8176307 0.01019
NM_007294.4(BRCA1):c.*1332G>A rs8176320 0.01007
NM_000059.4(BRCA2):c.8487+19A>G rs11571743 0.00975
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113 0.00964
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg) rs4986860 0.00910
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707 0.00895
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769 0.00809
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.1788T>C (p.Asp596=) rs11571642 0.00768
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831 0.00725
NM_000059.4(BRCA2):c.316+108A>G rs115376548 0.00719
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=) rs28897679 0.00657
NM_000059.4(BRCA2):c.517-19C>T rs11571623 0.00653
NM_000059.4(BRCA2):c.-175C>T rs55880202 0.00642
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727 0.00609
NM_000059.4(BRCA2):c.5704G>A rs4987048 0.00598
NM_000059.4(BRCA2):c.9257-16T>C rs11571818 0.00597
NM_000059.4(BRCA2):c.-11C>T rs76874770 0.00504
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734 0.00488
NM_007294.4(BRCA1):c.5406+8T>C rs55946644 0.00474
NM_007294.4(BRCA1):c.*1113G>A rs111791349 0.00473
NM_007294.4(BRCA1):c.-192T>C rs113323025 0.00472
NM_000059.4(BRCA2):c.7008-62A>G rs76584943 0.00439
NM_007294.4(BRCA1):c.5468-10C>A rs8176316 0.00431
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689 0.00419
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg) rs55953736 0.00396
NM_000059.4(BRCA2):c.*842A>G rs192347116 0.00373
NM_000059.4(BRCA2):c.2960A>T (p.Asn987Ile) rs2227944 0.00356
NM_000059.4(BRCA2):c.1275A>G (p.Glu425=) rs34355306 0.00324
NM_000059.4(BRCA2):c.2786T>C (p.Leu929Ser) rs2227943 0.00322
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530 0.00301
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_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485 0.00280
NM_000059.4(BRCA2):c.68-7T>A rs81002830 0.00277
NM_000059.4(BRCA2):c.67+82C>G rs189026060 0.00272
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954 0.00268
NM_007294.4(BRCA1):c.4987-20A>G rs80358035 0.00252
NM_000059.4(BRCA2):c.6220C>A (p.His2074Asn) rs34309943 0.00247
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His) rs35029074 0.00247
NM_000059.4(BRCA2):c.4241C>T (p.Thr1414Met) rs70953664 0.00244
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744 0.00240
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749 0.00239
NM_000059.4(BRCA2):c.*841A>G rs186619625 0.00232
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=) rs1799952 0.00228
NM_000059.4(BRCA2):c.7626G>A (p.Thr2542=) rs61754138 0.00215
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp) rs4986845 0.00209
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008 0.00203
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746 0.00202
NM_000059.4(BRCA2):c.231T>G (p.Thr77=) rs114446594 0.00184
NM_007294.4(BRCA1):c.2814A>G (p.Pro938=) rs80356851 0.00183
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710 0.00172
NM_000059.4(BRCA2):c.1798T>C (p.Tyr600His) rs75419644 0.00170
NM_007294.4(BRCA1):c.21C>T (p.Arg7=) rs149402012 0.00165
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046 0.00158
NM_000059.4(BRCA2):c.4187A>G (p.Gln1396Arg) rs55969723 0.00156
NM_007294.4(BRCA1):c.2109A>G (p.Thr703=) rs4986844 0.00147
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600 0.00146
NM_007294.4(BRCA1):c.4600G>A (p.Val1534Met) rs55815649 0.00145
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709 0.00137
NM_007294.4(BRCA1):c.4113G>A (p.Gly1371=) rs147448807 0.00135
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=) rs28897762 0.00132
NM_000059.4(BRCA2):c.1040A>G (p.Gln347Arg) rs55800493 0.00109
NM_000059.4(BRCA2):c.1911T>C (p.Gly637=) rs11571652 0.00109
NM_000059.4(BRCA2):c.9235G>A (p.Val3079Ile) rs55933907 0.00106
NM_007294.4(BRCA1):c.3083G>A (p.Arg1028His) rs80357459 0.00106
NM_000059.4(BRCA2):c.6057C>T (p.Asn2019=) rs147961615 0.00102
NM_007294.4(BRCA1):c.*1327G>A rs184237074 0.00099
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr) rs4986854 0.00098
NM_000059.4(BRCA2):c.6937+594T>G rs191253965 0.00094
NM_007294.4(BRCA1):c.5277+78G>A rs80358107 0.00093
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711 0.00092
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=) rs11571655 0.00090
NM_000059.4(BRCA2):c.5768A>C (p.Asp1923Ala) rs45491005 0.00088
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg) rs28897706 0.00079
NM_007294.4(BRCA1):c.4812A>G (p.Gln1604=) rs28897693 0.00075
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475 0.00074
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708 0.00072
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415 0.00070
NM_007294.4(BRCA1):c.2733A>G (p.Gly911=) rs1800740 0.00066
NM_007294.4(BRCA1):c.981A>G (p.Thr327=) rs1800063 0.00066
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704 0.00065
NM_007294.4(BRCA1):c.4992C>T (p.Leu1664=) rs142459158 0.00061
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His) rs28897677 0.00060
NM_000059.4(BRCA2):c.10121C>T (p.Thr3374Ile) rs56309455 0.00059
NM_000059.4(BRCA2):c.2145A>G (p.Gly715=) rs112566179 0.00056
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712 0.00054
NM_000059.4(BRCA2):c.7994A>G (p.Asp2665Gly) rs28897745 0.00049
NM_007294.4(BRCA1):c.301+8T>C rs80358101 0.00049
NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744 0.00048
NM_000059.4(BRCA2):c.9411T>G (p.Thr3137=) rs1799968 0.00047
NM_000059.4(BRCA2):c.9649-19G>A rs11571830 0.00047
NM_000059.4(BRCA2):c.9843A>G (p.Pro3281=) rs11571832 0.00046
NM_007294.4(BRCA1):c.2566T>C (p.Tyr856His) rs80356892 0.00046
NM_000059.4(BRCA2):c.198A>G (p.Gln66=) rs28897700 0.00044
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg) rs28897728 0.00044
NM_000059.4(BRCA2):c.9720T>C (p.Val3240=) rs80359810 0.00043
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375 0.00042
NM_000059.4(BRCA2):c.8187G>T (p.Lys2729Asn) rs80359065 0.00038
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931 0.00038
NM_000059.4(BRCA2):c.6842-20T>A rs81002811 0.00036
NM_007294.4(BRCA1):c.4484+14A>G rs80358022 0.00036
NM_000059.4(BRCA2):c.9924C>T (p.Tyr3308=) rs4987049 0.00035
NM_000059.4(BRCA2):c.322A>C (p.Asn108His) rs80358567 0.00034
NM_000059.4(BRCA2):c.223G>C (p.Ala75Pro) rs28897701 0.00032
NM_007294.4(BRCA1):c.1036C>T (p.Pro346Ser) rs80357015 0.00032
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687 0.00031
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His) rs56012641 0.00029
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033 0.00029
NM_007294.4(BRCA1):c.548-17G>T rs80358014 0.00028
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675 0.00027
NM_000059.4(BRCA2):c.1395A>C (p.Val465=) rs11571641 0.00026
NM_000059.4(BRCA2):c.4584C>T (p.Ser1528=) rs80359788 0.00026
NM_000059.4(BRCA2):c.4686A>G (p.Gln1562=) rs28897730 0.00026
NM_000059.4(BRCA2):c.6853A>G (p.Ile2285Val) rs56272235 0.00026
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701 0.00025
NM_000059.4(BRCA2):c.440A>G (p.Gln147Arg) rs80358674 0.00025
NM_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys) rs55794205 0.00025
NM_007294.4(BRCA1):c.3713C>T (p.Pro1238Leu) rs28897688 0.00025
NM_000059.4(BRCA2):c.6455C>A (p.Ser2152Tyr) rs80358881 0.00024
NM_000059.4(BRCA2):c.9292T>C (p.Tyr3098His) rs41293521 0.00024
NM_000059.4(BRCA2):c.2412A>G (p.Glu804=) rs587780866 0.00023
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561 0.00023
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys) rs28897676 0.00023
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755 0.00022
NM_000059.4(BRCA2):c.9502-12T>G rs81002803 0.00022
NM_007294.4(BRCA1):c.4813T>C (p.Leu1605=) rs80356833 0.00022
NM_007294.4(BRCA1):c.807G>A (p.Leu269=) rs149867679 0.00022
NM_000059.4(BRCA2):c.1123C>T (p.Pro375Ser) rs80358408 0.00021
NM_000059.4(BRCA2):c.2538A>C (p.Ser846=) rs11571654 0.00021
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755 0.00021
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys) rs28897683 0.00021
NM_007294.4(BRCA1):c.3804T>C (p.Asn1268=) rs140588714 0.00021
NM_007294.4(BRCA1):c.5411T>A (p.Val1804Asp) rs80356920 0.00021
NM_007294.4(BRCA1):c.571G>A (p.Val191Ile) rs80357090 0.00021
NM_000059.4(BRCA2):c.5710C>G (p.Leu1904Val) rs55875643 0.00020
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly) rs56403624 0.00019
NM_007294.4(BRCA1):c.1789G>A (p.Glu597Lys) rs55650082 0.00019
NM_007294.4(BRCA1):c.827C>G (p.Thr276Arg) rs80357436 0.00019
NM_000059.4(BRCA2):c.2350A>G (p.Met784Val) rs11571653 0.00018
NM_000059.4(BRCA2):c.7976+23C>T rs183623188 0.00018
NM_000059.4(BRCA2):c.8905G>A (p.Val2969Met) rs59004709 0.00018
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu) rs80357201 0.00018
NM_007294.4(BRCA1):c.5406+33A>T rs80358092 0.00018
NM_000059.4(BRCA2):c.10203G>A (p.Thr3401=) rs147854265 0.00017
NM_000059.4(BRCA2):c.2919G>A (p.Ser973=) rs45525041 0.00016
NM_000059.4(BRCA2):c.9649-20C>T rs56177715 0.00016
NM_007294.4(BRCA1):c.81-65G>C rs80358117 0.00016
NM_000059.4(BRCA2):c.*390A>G rs56003538 0.00015
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys) rs28897686 0.00015
NM_000059.4(BRCA2):c.4061C>T (p.Thr1354Met) rs80358656 0.00014
NM_007294.4(BRCA1):c.3302G>A (p.Ser1101Asn) rs41293447 0.00014
NM_000059.4(BRCA2):c.4779A>C (p.Glu1593Asp) rs80358703 0.00013
NM_000059.4(BRCA2):c.502C>A (p.Pro168Thr) rs80358726 0.00013
NM_007294.4(BRCA1):c.1911T>C (p.Thr637=) rs62625305 0.00013
NM_007294.4(BRCA1):c.2773A>C (p.Ile925Leu) rs4986847 0.00013
NM_000059.4(BRCA2):c.3055C>G (p.Leu1019Val) rs55638633 0.00012
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala) rs80357467 0.00012
NM_000059.4(BRCA2):c.1889C>T (p.Thr630Ile) rs80358479 0.00011
NM_000059.4(BRCA2):c.2680G>A (p.Val894Ile) rs28897715 0.00011
NM_000059.4(BRCA2):c.9501+9A>C rs81002867 0.00011
NM_007294.4(BRCA1):c.1065G>A (p.Lys355=) rs41286292 0.00011
NM_007294.4(BRCA1):c.2002C>T (p.Leu668Phe) rs80357250 0.00011
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300 0.00011
NM_007294.4(BRCA1):c.3823A>G (p.Ile1275Val) rs80357280 0.00011
NM_007294.4(BRCA1):c.5158A>G (p.Thr1720Ala) rs56195342 0.00011
NM_007294.4(BRCA1):c.693G>A (p.Thr231=) rs62625298 0.00011
NM_000059.4(BRCA2):c.10045A>G (p.Thr3349Ala) rs80358387 0.00010
NM_000059.4(BRCA2):c.4614T>C (p.Ser1538=) rs45520945 0.00009
NM_000059.4(BRCA2):c.4656T>C (p.Gly1552=) rs41293491 0.00009
NM_000059.4(BRCA2):c.5455C>T (p.Pro1819Ser) rs80358768 0.00009
NM_000059.4(BRCA2):c.6338A>G (p.Asn2113Ser) rs80358874 0.00009
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817 0.00009
NM_007294.4(BRCA1):c.2352G>A (p.Ser784=) rs372017932 0.00009
NM_007294.4(BRCA1):c.314A>G (p.Tyr105Cys) rs28897673 0.00009
NM_007294.4(BRCA1):c.3739G>A (p.Val1247Ile) rs80357191 0.00009
NM_000059.4(BRCA2):c.3420T>C (p.Ser1140=) rs118093942 0.00008
NM_000059.4(BRCA2):c.6748A>G (p.Thr2250Ala) rs80358899 0.00008
NM_007294.4(BRCA1):c.4644G>A (p.Thr1548=) rs28897692 0.00008
NM_000059.4(BRCA2):c.1011C>T (p.Asn337=) rs41293473 0.00007
NM_000059.4(BRCA2):c.1167G>A (p.Pro389=) rs148607710 0.00007
NM_000059.4(BRCA2):c.1662T>G (p.Cys554Trp) rs80358451 0.00007
NM_000059.4(BRCA2):c.3568C>T (p.Arg1190Trp) rs80358604 0.00007
NM_000059.4(BRCA2):c.3839A>T (p.Asp1280Val) rs56337919 0.00007
NM_000059.4(BRCA2):c.6935A>T (p.Asp2312Val) rs80358916 0.00007
NM_000059.4(BRCA2):c.9501+3A>T rs61757642 0.00007
NM_000059.4(BRCA2):c.987G>A (p.Arg329=) rs561002197 0.00007
NM_007294.4(BRCA1):c.1865C>T (p.Ala622Val) rs56039126 0.00007
NM_007294.4(BRCA1):c.3783A>G (p.Leu1261=) rs80356831 0.00007
NM_007294.4(BRCA1):c.4132G>A (p.Val1378Ile) rs28897690 0.00007
NM_007294.4(BRCA1):c.5278-14C>G rs80358105 0.00007
NM_000059.4(BRCA2):c.1362A>G (p.Lys454=) rs55919657 0.00006
NM_000059.4(BRCA2):c.2025A>G (p.Thr675=) rs147381487 0.00006
NM_000059.4(BRCA2):c.4578A>G (p.Thr1526=) rs202022822 0.00006
NM_000059.4(BRCA2):c.7057G>C (p.Gly2353Arg) rs80358935 0.00006
NM_000059.4(BRCA2):c.7505G>A (p.Arg2502His) rs56070345 0.00006
NM_000059.4(BRCA2):c.8421G>A (p.Ser2807=) rs371278843 0.00006
NM_000059.4(BRCA2):c.8662C>T (p.Arg2888Cys) rs80359123 0.00006
NM_000059.4(BRCA2):c.9175A>G (p.Lys3059Glu) rs80359174 0.00006
NM_007294.4(BRCA1):c.1392C>T (p.Thr464=) rs533802049 0.00006
NM_007294.4(BRCA1):c.1534C>T (p.Leu512Phe) rs41286294 0.00006
NM_007294.4(BRCA1):c.1617G>A (p.Thr539=) rs372002119 0.00006
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr) rs80357102 0.00006
NM_007294.4(BRCA1):c.2412G>C (p.Gln804His) rs55746541 0.00006
NM_007294.4(BRCA1):c.2428A>T (p.Asn810Tyr) rs28897682 0.00006
NM_007294.4(BRCA1):c.3608G>A (p.Arg1203Gln) rs55930959 0.00006
NM_007294.4(BRCA1):c.3640G>A (p.Glu1214Lys) rs80356923 0.00006
NM_007294.4(BRCA1):c.4046C>T (p.Thr1349Met) rs80357345 0.00006
NM_007294.4(BRCA1):c.4636G>A (p.Asp1546Asn) rs28897691 0.00006
NM_007294.4(BRCA1):c.795T>C (p.Ser265=) rs201441987 0.00006
NM_007294.4(BRCA1):c.946A>G (p.Ser316Gly) rs55874646 0.00006
NM_000059.4(BRCA2):c.5268A>G (p.Val1756=) rs199879914 0.00005
NM_000059.4(BRCA2):c.5552T>G (p.Ile1851Ser) rs80358776 0.00005
NM_000059.4(BRCA2):c.5985C>T (p.Asn1995=) rs374620036 0.00005
NM_000059.4(BRCA2):c.8010G>A (p.Ser2670=) rs146430937 0.00005
NM_000059.4(BRCA2):c.8525G>A (p.Arg2842His) rs80359105 0.00005
NM_000059.4(BRCA2):c.9592T>C (p.Cys3198Arg) rs80359229 0.00005
NM_000059.4(BRCA2):c.9738C>T (p.Ala3246=) rs80359811 0.00005
NM_007294.4(BRCA1):c.1511G>A (p.Arg504His) rs56272539 0.00005
NM_007294.4(BRCA1):c.5117G>C (p.Gly1706Ala) rs80356860 0.00005
NM_000059.4(BRCA2):c.1181A>C (p.Glu394Ala) rs56016241 0.00004
NM_000059.4(BRCA2):c.2987T>G (p.Leu996Arg) rs80358545 0.00004
NM_000059.4(BRCA2):c.4094G>A (p.Cys1365Tyr) rs80358657 0.00004
NM_000059.4(BRCA2):c.4570T>G (p.Phe1524Val) rs56386506 0.00004
NM_000059.4(BRCA2):c.5752C>T (p.His1918Tyr) rs80358803 0.00004
NM_000059.4(BRCA2):c.6143A>T (p.Asn2048Ile) rs80358853 0.00004
NM_000059.4(BRCA2):c.9414A>G (p.Leu3138=) rs80359807 0.00004
NM_007294.4(BRCA1):c.-19-3A>G rs273898669 0.00004
NM_007294.4(BRCA1):c.1419C>T (p.Asn473=) rs777228325 0.00004
NM_007294.4(BRCA1):c.1616C>T (p.Thr539Met) rs80357374 0.00004
NM_007294.4(BRCA1):c.2286A>T (p.Arg762Ser) rs273898682 0.00004
NM_007294.4(BRCA1):c.2351C>T (p.Ser784Leu) rs55914168 0.00004
NM_007294.4(BRCA1):c.2669G>T (p.Gly890Val) rs80356874 0.00004
NM_007294.4(BRCA1):c.2884G>A (p.Glu962Lys) rs80356955 0.00004
NM_007294.4(BRCA1):c.425C>A (p.Pro142His) rs55971303 0.00004
NM_007294.4(BRCA1):c.427G>A (p.Glu143Lys) rs80356991 0.00004
NM_007294.4(BRCA1):c.4402A>C (p.Asn1468His) rs80357022 0.00004
NM_007294.4(BRCA1):c.4653T>C (p.Ser1551=) rs587780863 0.00004
NM_007294.4(BRCA1):c.570C>T (p.Thr190=) rs201536070 0.00004
NM_007294.4(BRCA1):c.75C>T (p.Pro25=) rs80356839 0.00004
NM_000059.4(BRCA2):c.1744A>C (p.Thr582Pro) rs80358457 0.00003
NM_000059.4(BRCA2):c.3575T>G (p.Phe1192Cys) rs80358606 0.00003
NM_000059.4(BRCA2):c.3581G>A (p.Gly1194Asp) rs28897721 0.00003
NM_000059.4(BRCA2):c.3682A>G (p.Asn1228Asp) rs28897722 0.00003
NM_000059.4(BRCA2):c.53G>A (p.Arg18His) rs80358762 0.00003
NM_000059.4(BRCA2):c.5634C>G (p.Asn1878Lys) rs80358784 0.00003
NM_000059.4(BRCA2):c.627C>T (p.Leu209=) rs28897704 0.00003
NM_000059.4(BRCA2):c.6290C>T (p.Thr2097Met) rs80358866 0.00003
NM_000059.4(BRCA2):c.6633T>C (p.Val2211=) rs80359795 0.00003
NM_000059.4(BRCA2):c.750G>A (p.Val250=) rs143214959 0.00003
NM_000059.4(BRCA2):c.8917C>T (p.Arg2973Cys) rs45469092 0.00003
NM_000059.4(BRCA2):c.9235del (p.Val3079fs) rs397507422 0.00003
NM_000059.4(BRCA2):c.9237T>C (p.Val3079=) rs80359805 0.00003
NM_007294.4(BRCA1):c.1001C>T (p.Pro334Leu) rs41286290 0.00003
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) rs28897672 0.00003
NM_007294.4(BRCA1):c.3541G>A (p.Val1181Ile) rs56336919 0.00003
NM_007294.4(BRCA1):c.396C>A (p.Asn132Lys) rs80357413 0.00003
NM_007294.4(BRCA1):c.4185+10G>C rs80358104 0.00003
NM_007294.4(BRCA1):c.5175A>G (p.Glu1725=) rs191373374 0.00003
NM_007294.4(BRCA1):c.5252G>A (p.Arg1751Gln) rs80357442 0.00003
NM_007294.4(BRCA1):c.5310G>A (p.Gly1770=) rs273901761 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.824G>A (p.Gly275Asp) rs397509327 0.00003
NM_000059.4(BRCA2):c.1538A>G (p.Lys513Arg) rs28897709 0.00002
NM_000059.4(BRCA2):c.167A>C (p.Asn56Thr) rs80358454 0.00002
NM_000059.4(BRCA2):c.1804G>A (p.Gly602Arg) rs80358466 0.00002
NM_000059.4(BRCA2):c.2391G>A (p.Lys797=) rs587776462 0.00002
NM_000059.4(BRCA2):c.2484T>C (p.Tyr828=) rs45619134 0.00002
NM_000059.4(BRCA2):c.3304A>T (p.Asn1102Tyr) rs28897719 0.00002
NM_000059.4(BRCA2):c.3916G>A (p.Val1306Ile) rs80358636 0.00002
NM_000059.4(BRCA2):c.4062G>A (p.Thr1354=) rs768735660 0.00002
NM_000059.4(BRCA2):c.5427C>T (p.Cys1809=) rs80359791 0.00002
NM_000059.4(BRCA2):c.7534C>T (p.Leu2512Phe) rs80358980 0.00002
NM_007294.4(BRCA1):c.3130A>G (p.Ile1044Val) rs80357271 0.00002
NM_007294.4(BRCA1):c.3657G>C (p.Glu1219Asp) rs80356876 0.00002
NM_007294.4(BRCA1):c.4097-11T>C rs80358072 0.00002
NM_007294.4(BRCA1):c.4245A>G (p.Glu1415=) rs41293453 0.00002
NM_007294.4(BRCA1):c.42C>T (p.Val14=) rs80356827 0.00002
NM_007294.4(BRCA1):c.4816A>G (p.Lys1606Glu) rs80356943 0.00002
NM_007294.4(BRCA1):c.4955T>C (p.Met1652Thr) rs80356968 0.00002
NM_007294.4(BRCA1):c.5074+6C>G rs80358032 0.00002
NM_007294.4(BRCA1):c.5153-6C>A rs80358129 0.00002
NM_007294.4(BRCA1):c.5328C>T (p.Pro1776=) rs759867616 0.00002
NM_007294.4(BRCA1):c.5531T>G (p.Leu1844Arg) rs80357323 0.00002
NM_007294.4(BRCA1):c.5576C>G (p.Pro1859Arg) rs80357322 0.00002
NM_007294.4(BRCA1):c.839C>G (p.Ala280Gly) rs80357199 0.00002
NM_007294.4(BRCA1):c.891G>A (p.Met297Ile) rs80357103 0.00002
NM_000059.4(BRCA2):c.10251T>C (p.Tyr3417=) rs80359779 0.00001
NM_000059.4(BRCA2):c.1218C>G (p.Ala406=) rs276174807 0.00001
NM_000059.4(BRCA2):c.1287A>G (p.Leu429=) rs80359782 0.00001
NM_000059.4(BRCA2):c.1647G>A (p.Lys549=) rs276174812 0.00001
NM_000059.4(BRCA2):c.1810A>G (p.Lys604Glu) rs80358467 0.00001
NM_000059.4(BRCA2):c.1865C>T (p.Ala622Val) rs80358477 0.00001
NM_000059.4(BRCA2):c.2127G>C (p.Leu709=) rs554040246 0.00001
NM_000059.4(BRCA2):c.2416G>C (p.Asp806His) rs56404215 0.00001
NM_000059.4(BRCA2):c.2698A>G (p.Asn900Asp) rs55736268 0.00001
NM_000059.4(BRCA2):c.2739C>T (p.Asp913=) rs276174829 0.00001
NM_000059.4(BRCA2):c.2751A>G (p.Val917=) rs765644162 0.00001
NM_000059.4(BRCA2):c.2755G>A (p.Glu919Lys) rs431825298 0.00001
NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs) rs80359380 0.00001
NM_000059.4(BRCA2):c.3495T>C (p.His1165=) rs776655838 0.00001
NM_000059.4(BRCA2):c.3675A>G (p.Thr1225=) rs276174835 0.00001
NM_000059.4(BRCA2):c.3871C>T (p.Gln1291Ter) rs80358631 0.00001
NM_000059.4(BRCA2):c.3967A>T (p.Lys1323Ter) rs80358648 0.00001
NM_000059.4(BRCA2):c.4023A>C (p.Ser1341=) rs276174840 0.00001
NM_000059.4(BRCA2):c.4046T>C (p.Ile1349Thr) rs80358654 0.00001
NM_000059.4(BRCA2):c.4271C>G (p.Ser1424Cys) rs80358664 0.00001
NM_000059.4(BRCA2):c.441A>G (p.Gln147=) rs80358676 0.00001
NM_000059.4(BRCA2):c.4552del (p.Glu1518fs) rs398122783 0.00001
NM_000059.4(BRCA2):c.4830G>A (p.Val1610=) rs80359789 0.00001
NM_000059.4(BRCA2):c.517-2A>G rs81002858 0.00001
NM_000059.4(BRCA2):c.5753A>G (p.His1918Arg) rs80358804 0.00001
NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter) rs80358815 0.00001
NM_000059.4(BRCA2):c.6953G>A (p.Arg2318Gln) rs80358921 0.00001
NM_000059.4(BRCA2):c.7056T>A (p.Pro2352=) rs276174888 0.00001
NM_000059.4(BRCA2):c.7104G>A (p.Leu2368=) rs764698623 0.00001
NM_000059.4(BRCA2):c.7182A>G (p.Arg2394=) rs80359797 0.00001
NM_000059.4(BRCA2):c.7232A>C (p.Lys2411Thr) rs80358950 0.00001
NM_000059.4(BRCA2):c.7307A>T (p.Asn2436Ile) rs80358955 0.00001
NM_000059.4(BRCA2):c.7764A>T (p.Ile2588=) rs80359798 0.00001
NM_000059.4(BRCA2):c.7878G>A (p.Trp2626Ter) rs80359013 0.00001
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013 0.00001
NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val) rs80359031 0.00001
NM_000059.4(BRCA2):c.7992T>A (p.Ile2664=) rs80359800 0.00001
NM_000059.4(BRCA2):c.7995T>C (p.Asp2665=) rs200757418 0.00001
NM_000059.4(BRCA2):c.8103T>G (p.Ser2701=) rs80359801 0.00001
NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His) rs41293511 0.00001
NM_000059.4(BRCA2):c.8764A>G (p.Ser2922Gly) rs80359132 0.00001
NM_000059.4(BRCA2):c.880G>T (p.Glu294Ter) rs397508009 0.00001
NM_000059.4(BRCA2):c.8997G>A (p.Leu2999=) rs80359804 0.00001
NM_000059.4(BRCA2):c.909T>G (p.Ser303=) rs757430441 0.00001
NM_000059.4(BRCA2):c.9154C>T (p.Arg3052Trp) rs45580035 0.00001
NM_000059.4(BRCA2):c.927A>G (p.Ser309=) rs80359806 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000059.4(BRCA2):c.9509A>G (p.Asp3170Gly) rs80359224 0.00001
NM_000059.4(BRCA2):c.9646C>T (p.Leu3216=) rs80359809 0.00001
NM_007294.4(BRCA1):c.1105G>A (p.Asp369Asn) rs56056711 0.00001
NM_007294.4(BRCA1):c.133A>C (p.Lys45Gln) rs769650474 0.00001
NM_007294.4(BRCA1):c.1383T>A (p.Phe461Leu) rs56046357 0.00001
NM_007294.4(BRCA1):c.1401G>A (p.Lys467=) rs786201323 0.00001
NM_007294.4(BRCA1):c.1797T>C (p.Asn599=) rs756211343 0.00001
NM_007294.4(BRCA1):c.1924G>C (p.Asp642His) rs80357344 0.00001
NM_007294.4(BRCA1):c.2180C>T (p.Pro727Leu) rs80356912 0.00001
NM_007294.4(BRCA1):c.2584A>G (p.Lys862Glu) rs80356927 0.00001
NM_007294.4(BRCA1):c.2597G>A (p.Arg866His) rs80356911 0.00001
NM_007294.4(BRCA1):c.2613G>A (p.Pro871=) rs587782608 0.00001
NM_007294.4(BRCA1):c.2706_2707dup (p.Cys903fs) rs80357717 0.00001
NM_007294.4(BRCA1):c.2758G>A (p.Val920Ile) rs80357361 0.00001
NM_007294.4(BRCA1):c.2931A>G (p.Pro977=) rs273899691 0.00001
NM_007294.4(BRCA1):c.3416G>T (p.Ser1139Ile) rs80357228 0.00001
NM_007294.4(BRCA1):c.3432G>A (p.Gln1144=) rs80356922 0.00001
NM_007294.4(BRCA1):c.3448C>T (p.Pro1150Ser) rs80357272 0.00001
NM_007294.4(BRCA1):c.3684C>T (p.His1228=) rs786201623 0.00001
NM_007294.4(BRCA1):c.370A>G (p.Ile124Val) rs80357448 0.00001
NM_007294.4(BRCA1):c.3724A>G (p.Thr1242Ala) rs80357037 0.00001
NM_007294.4(BRCA1):c.3774G>A (p.Glu1258=) rs431825399 0.00001
NM_007294.4(BRCA1):c.3797G>C (p.Ser1266Thr) rs80357160 0.00001
NM_007294.4(BRCA1):c.397C>T (p.Arg133Cys) rs80357457 0.00001
NM_007294.4(BRCA1):c.4081A>C (p.Met1361Leu) rs80357218 0.00001
NM_007294.4(BRCA1):c.4096+1G>A rs80358178 0.00001
NM_007294.4(BRCA1):c.4097-10G>A rs80358057 0.00001
NM_007294.4(BRCA1):c.4204C>T (p.His1402Tyr) rs80357365 0.00001
NM_007294.4(BRCA1):c.4314C>G (p.Ala1438=) rs80356856 0.00001
NM_007294.4(BRCA1):c.4347A>G (p.Thr1449=) rs80356840 0.00001
NM_007294.4(BRCA1):c.4520G>C (p.Arg1507Thr) rs80357470 0.00001
NM_007294.4(BRCA1):c.463C>G (p.Gln155Glu) rs80357180 0.00001
NM_007294.4(BRCA1):c.4910C>T (p.Pro1637Leu) rs80357048 0.00001
NM_007294.4(BRCA1):c.4985T>C (p.Phe1662Ser) rs28897695 0.00001
NM_007294.4(BRCA1):c.4991T>C (p.Leu1664Pro) rs80357314 0.00001
NM_007294.4(BRCA1):c.5022C>T (p.Ile1674=) rs786203868 0.00001
NM_007294.4(BRCA1):c.5024C>T (p.Thr1675Ile) rs150729791 0.00001
NM_007294.4(BRCA1):c.5054C>T (p.Thr1685Ile) rs80357043 0.00001
NM_007294.4(BRCA1):c.508C>T (p.Arg170Trp) rs80357325 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_007294.4(BRCA1):c.5153-13A>G rs45471406 0.00001
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala) rs45553935 0.00001
NM_007294.4(BRCA1):c.5324T>G (p.Met1775Arg) rs41293463 0.00001
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr) rs80356929 0.00001
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465 0.00001
NM_007294.4(BRCA1):c.5556C>G (p.Thr1852=) rs80356841 0.00001
NM_007294.4(BRCA1):c.5586C>T (p.His1862=) rs774127304 0.00001
NM_007294.4(BRCA1):c.716A>G (p.His239Arg) rs80357396 0.00001
NM_007294.4(BRCA1):c.996G>T (p.Arg332=) rs80356836 0.00001
NM_007294.4(BRCA1):c.997A>G (p.Thr333Ala) rs786201634 0.00001
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.4(BRCA2):c.1054dup (p.Tyr352fs) rs80359261
NM_000059.4(BRCA2):c.1074G>T (p.Val358=) rs276174805
NM_000059.4(BRCA2):c.1125C>T (p.Pro375=) rs276174806
NM_000059.4(BRCA2):c.1149C>A (p.Ile383=) rs80359780
NM_000059.4(BRCA2):c.1166C>A (p.Pro389Gln) rs397507263
NM_000059.4(BRCA2):c.1188T>G (p.Ser396=) rs80359781
NM_000059.4(BRCA2):c.1189C>T (p.Gln397Ter) rs760815829
NM_000059.4(BRCA2):c.1296_1297del (p.Asn433fs) rs80359276
NM_000059.4(BRCA2):c.1354C>A (p.Leu452Ile) rs80358424
NM_000059.4(BRCA2):c.1456C>T (p.Gln486Ter) rs80358434
NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter) rs80358435
NM_000059.4(BRCA2):c.1599T>C (p.Thr533=) rs80359783
NM_000059.4(BRCA2):c.1599_1600del (p.Glu534fs) rs80359293
NM_000059.4(BRCA2):c.1689G>A (p.Trp563Ter) rs80358456
NM_000059.4(BRCA2):c.1755_1759del (p.Lys585fs) rs80359302
NM_000059.4(BRCA2):c.1796_1800del (p.Thr598_Ser599insTer) rs276174813
NM_000059.4(BRCA2):c.1907C>G (p.Ser636Ter) rs431825288
NM_000059.4(BRCA2):c.1911T>G (p.Gly637=) rs11571652
NM_000059.4(BRCA2):c.1959A>G (p.Glu653=) rs276174817
NM_000059.4(BRCA2):c.2337G>T (p.Leu779=) rs80359784
NM_000059.4(BRCA2):c.2380dup (p.Met794fs) rs730881602
NM_000059.4(BRCA2):c.2424A>G (p.Glu808=) rs55646808
NM_000059.4(BRCA2):c.2526A>G (p.Val842=) rs770778164
NM_000059.4(BRCA2):c.2538A>G (p.Ser846=) rs11571654
NM_000059.4(BRCA2):c.2743_2747del (p.Thr915fs) rs786204752
NM_000059.4(BRCA2):c.2803G>C (p.Asp935His) rs28897716
NM_000059.4(BRCA2):c.2881C>T (p.Gln961Ter) rs80358538
NM_000059.4(BRCA2):c.2918C>A (p.Ser973Ter) rs397507296
NM_000059.4(BRCA2):c.3009_3010del (p.His1003fs) rs397507300
NM_000059.4(BRCA2):c.3010del (p.Ser1004fs) rs730881604
NM_000059.4(BRCA2):c.316+5G>A rs81002840
NM_000059.4(BRCA2):c.3167_3170del (p.Gln1056fs) rs80359372
NM_000059.4(BRCA2):c.3330A>G (p.Glu1110=) rs369294255
NM_000059.4(BRCA2):c.3336del (p.Glu1113fs) rs398122763
NM_000059.4(BRCA2):c.3477C>A (p.Cys1159Ter) rs431825307
NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer) rs80359388
NM_000059.4(BRCA2):c.3774_3775del (p.Ile1258fs) rs886038094
NM_000059.4(BRCA2):c.3779dup (p.Leu1260fs) rs397507686
NM_000059.4(BRCA2):c.3807T>G (p.Val1269=) rs543304
NM_000059.4(BRCA2):c.3859_3860del (p.Lys1286_Asn1287insTer) rs80359406
NM_000059.4(BRCA2):c.3909C>A (p.Gly1303=) rs80359786
NM_000059.4(BRCA2):c.3966C>T (p.Asn1322=) rs80358647
NM_000059.4(BRCA2):c.4037_4038del (p.Thr1346fs) rs80359421
NM_000059.4(BRCA2):c.4058_4062del (p.Glu1353fs) rs397507322
NM_000059.4(BRCA2):c.4089C>T (p.Asn1363=) rs80359787
NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000059.4(BRCA2):c.4127_4130del (p.Gly1376fs) rs397507323
NM_000059.4(BRCA2):c.4143AGA[1] (p.Glu1382del) rs80359432
NM_000059.4(BRCA2):c.4258del (p.Asp1420fs) rs80359436
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs) rs80359439
NM_000059.4(BRCA2):c.4405_4409del (p.Asp1469fs) rs397507331
NM_000059.4(BRCA2):c.4478_4481del (p.Glu1493fs) rs80359454
NM_000059.4(BRCA2):c.4554del (p.Glu1518fs) rs80359458
NM_000059.4(BRCA2):c.4588A>T (p.Lys1530Ter) rs80358692
NM_000059.4(BRCA2):c.4731del (p.Glu1577fs) rs397507740
NM_000059.4(BRCA2):c.4889C>A (p.Ser1630Ter) rs80358711
NM_000059.4(BRCA2):c.5035del (p.Thr1679fs) rs80359477
NM_000059.4(BRCA2):c.5110_5113del (p.Glu1703_Arg1704insTer) rs879254123
NM_000059.4(BRCA2):c.5159C>A (p.Ser1720Ter) rs80358740
NM_000059.4(BRCA2):c.5270_5286del (p.Tyr1757fs) rs80359502
NM_000059.4(BRCA2):c.5281G>T (p.Gly1761Ter) rs886038122
NM_000059.4(BRCA2):c.5298T>C (p.Asn1766=) rs276174856
NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs) rs80359507
NM_000059.4(BRCA2):c.549T>C (p.Ser183=) rs80359792
NM_000059.4(BRCA2):c.5542del (p.Ser1848fs) rs80359519
NM_000059.4(BRCA2):c.5553C>T (p.Ile1851=) rs573514896
NM_000059.4(BRCA2):c.5590_5591del (p.Asp1864fs) rs886040598
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs) rs80359525
NM_000059.4(BRCA2):c.5631del (p.Asn1877fs) rs397507357
NM_000059.4(BRCA2):c.5653del (p.Cys1885fs) rs886040602
NM_000059.4(BRCA2):c.5661G>A (p.Thr1887=) rs80359793
NM_000059.4(BRCA2):c.5715dup (p.Asn1906Ter) rs587782901
NM_000059.4(BRCA2):c.5800C>T (p.Gln1934Ter) rs886040610
NM_000059.4(BRCA2):c.5851_5854del (p.Ser1951fs) rs80359543
NM_000059.4(BRCA2):c.5976A>G (p.Ser1992=) rs748854546
NM_000059.4(BRCA2):c.6037A>T (p.Lys2013Ter) rs80358840
NM_000059.4(BRCA2):c.6039del (p.Val2014fs) rs876660637
NM_000059.4(BRCA2):c.627C>A (p.Leu209=) rs28897704
NM_000059.4(BRCA2):c.6420T>G (p.Gly2140=) rs80359794
NM_000059.4(BRCA2):c.6449_6450insTA (p.Lys2150fs) rs276174872
NM_000059.4(BRCA2):c.6465C>T (p.Leu2155=) rs746099644
NM_000059.4(BRCA2):c.6471A>G (p.Gln2157=) rs775882736
NM_000059.4(BRCA2):c.6816_6820del (p.Gly2274fs) rs587781803
NM_000059.4(BRCA2):c.6841+80_6841+83del rs11571661
NM_000059.4(BRCA2):c.6938-2A>G rs81002863
NM_000059.4(BRCA2):c.6944_6947del (p.Ile2315fs) rs80359629
NM_000059.4(BRCA2):c.6980del (p.Ser2326_Leu2327insTer) rs879255306
NM_000059.4(BRCA2):c.7008-2A>T rs81002823
NM_000059.4(BRCA2):c.7024C>T (p.Gln2342Ter) rs80358928
NM_000059.4(BRCA2):c.7033C>T (p.Gln2345Ter) rs886040685
NM_000059.4(BRCA2):c.7152A>G (p.Gln2384=) rs80359796
NM_000059.4(BRCA2):c.7188G>A (p.Leu2396=) rs587780871
NM_000059.4(BRCA2):c.7188G>T (p.Leu2396Phe) rs587780871
NM_000059.4(BRCA2):c.71_96del (p.Asp23_Leu24insTer) rs80359637
NM_000059.4(BRCA2):c.7224A>G (p.Pro2408=) rs276174891
NM_000059.4(BRCA2):c.7230del (p.Phe2410fs) rs1555286052
NM_000059.4(BRCA2):c.7241C>G (p.Ser2414Ter) rs80358951
NM_000059.4(BRCA2):c.7366C>T (p.Gln2456Ter) rs397507912
NM_000059.4(BRCA2):c.7415A>C (p.Lys2472Thr) rs80358963
NM_000059.4(BRCA2):c.741C>T (p.Ile247=) rs276174892
NM_000059.4(BRCA2):c.7525dup (p.Ser2509fs) rs80359656
NM_000059.4(BRCA2):c.7563C>A (p.Ile2521=) rs786204282
NM_000059.4(BRCA2):c.767_768del (p.Thr256fs) rs80359670
NM_000059.4(BRCA2):c.777A>G (p.Arg259=) rs431825356
NM_000059.4(BRCA2):c.7806-2A>G rs81002836
NM_000059.4(BRCA2):c.7847del (p.Ser2616fs) rs80359685
NM_000059.4(BRCA2):c.7941A>C (p.Leu2647=) rs276174898
NM_000059.4(BRCA2):c.7946del (p.Pro2649fs) rs863224828
NM_000059.4(BRCA2):c.7947A>G (p.Pro2649=) rs80359799
NM_000059.4(BRCA2):c.7975A>G (p.Arg2659Gly) rs80359026
NM_000059.4(BRCA2):c.7976G>C (p.Arg2659Thr) rs80359027
NM_000059.4(BRCA2):c.7979_7991del (p.Tyr2660fs) rs730881614
NM_000059.4(BRCA2):c.7992T>C (p.Ile2664=) rs80359800
NM_000059.4(BRCA2):c.8067T>A (p.Cys2689Ter) rs80359046
NM_000059.4(BRCA2):c.8143A>T (p.Lys2715Ter) rs863224469
NM_000059.4(BRCA2):c.8145del (p.Val2716fs) rs1135401923
NM_000059.4(BRCA2):c.8165C>G (p.Thr2722Arg) rs80359062
NM_000059.4(BRCA2):c.8168A>G (p.Asp2723Gly) rs41293513
NM_000059.4(BRCA2):c.8187G>A (p.Lys2729=) rs80359065
NM_000059.4(BRCA2):c.8243G>A (p.Gly2748Asp) rs80359071
NM_000059.4(BRCA2):c.8323dup (p.Met2775fs) rs276174904
NM_000059.4(BRCA2):c.8478C>A (p.Tyr2826Ter) rs776353983
NM_000059.4(BRCA2):c.8487+47C>T rs11571744
NM_000059.4(BRCA2):c.8488-1G>A rs397507404
NM_000059.4(BRCA2):c.8533dup (p.Arg2845fs) rs397507990
NM_000059.4(BRCA2):c.8632+1G>A rs397507997
NM_000059.4(BRCA2):c.8754+4A>G rs81002893
NM_000059.4(BRCA2):c.8755-1G>A rs81002812
NM_000059.4(BRCA2):c.889G>T (p.Glu297Ter) rs879255298
NM_000059.4(BRCA2):c.9148C>T (p.Gln3050Ter) rs80359170
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs) rs80359752
NM_000059.4(BRCA2):c.9375C>G (p.Leu3125=) rs276174924
NM_000059.4(BRCA2):c.9466C>T (p.Gln3156Ter) rs276174925
NM_000059.4(BRCA2):c.9606G>A (p.Pro3202=) rs755890067
NM_000059.4(BRCA2):c.9606G>C (p.Pro3202=) rs755890067
NM_000059.4(BRCA2):c.9648+106del rs11571824
NM_000059.4(BRCA2):c.9843A>C (p.Pro3281=) rs11571832
NM_007294.4(BRCA1):c.1106_1108del (p.Asp369del) rs80358325
NM_007294.4(BRCA1):c.110C>A (p.Thr37Lys) rs80356880
NM_007294.4(BRCA1):c.1159T>A (p.Ser387Thr) rs876659403
NM_007294.4(BRCA1):c.115T>C (p.Cys39Arg) rs80357164
NM_007294.4(BRCA1):c.122A>G (p.His41Arg) rs80357276
NM_007294.4(BRCA1):c.1293_1295delinsGA (p.Leu432fs) rs397508852
NM_007294.4(BRCA1):c.130T>A (p.Cys44Ser) rs80357327
NM_007294.4(BRCA1):c.131G>A (p.Cys44Tyr) rs80357446
NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe) rs80357446
NM_007294.4(BRCA1):c.139dup (p.Cys47fs) rs80357734
NM_007294.4(BRCA1):c.140G>A (p.Cys47Tyr) rs80357150
NM_007294.4(BRCA1):c.1418A>G (p.Asn473Ser) rs80357057
NM_007294.4(BRCA1):c.1418A>T (p.Asn473Ile) rs80357057
NM_007294.4(BRCA1):c.1505_1509del (p.Leu502fs) rs876659139
NM_007294.4(BRCA1):c.1576C>T (p.Gln526Ter) rs80356984
NM_007294.4(BRCA1):c.1703C>T (p.Pro568Leu) rs80356910
NM_007294.4(BRCA1):c.182_183del (p.Cys61fs) rs397508912
NM_007294.4(BRCA1):c.1834A>G (p.Arg612Gly) rs80357245
NM_007294.4(BRCA1):c.1843TCT[1] (p.Ser616del) rs80358329
NM_007294.4(BRCA1):c.1866G>T (p.Ala622=) rs1800064
NM_007294.4(BRCA1):c.1893A>G (p.Leu631=) rs80356834
NM_007294.4(BRCA1):c.1923dup (p.Asp642Ter) rs878854935
NM_007294.4(BRCA1):c.1927A>G (p.Ser643Gly) rs80357105
NM_007294.4(BRCA1):c.1978del (p.Val660fs) rs886039988
NM_007294.4(BRCA1):c.1983G>A (p.Arg661=) rs869320788
NM_007294.4(BRCA1):c.2043dup (p.Asn682Ter) rs863224510
NM_007294.4(BRCA1):c.2079C>T (p.Asp693=) rs80356835
NM_007294.4(BRCA1):c.2083G>T (p.Asp695Tyr) rs28897681
NM_007294.4(BRCA1):c.2103G>A (p.Lys701=) rs273898677
NM_007294.4(BRCA1):c.2105T>G (p.Leu702Ter) rs80357298
NM_007294.4(BRCA1):c.2130T>G (p.Thr710=) rs273898678
NM_007294.4(BRCA1):c.2175C>T (p.Ser725=) rs273898680
NM_007294.4(BRCA1):c.2188_2201del (p.Glu730fs) rs273898681
NM_007294.4(BRCA1):c.2232T>C (p.Ala744=) rs4986846
NM_007294.4(BRCA1):c.231G>T (p.Thr77=) rs80356847
NM_007294.4(BRCA1):c.2331_2332dup (p.Gly778fs) rs431825390
NM_007294.4(BRCA1):c.2346dup (p.Ile783fs) rs886040027
NM_007294.4(BRCA1):c.243del (p.Gln81fs) rs273899684
NM_007294.4(BRCA1):c.2507_2508del (p.Glu836fs) rs273899686
NM_007294.4(BRCA1):c.2568T>C (p.Tyr856=) rs80356832
NM_007294.4(BRCA1):c.2630del (p.Asn877fs) rs886038002
NM_007294.4(BRCA1):c.2679_2682del (p.Lys893fs) rs80357596
NM_007294.4(BRCA1):c.2912_2913del (p.His971fs) rs878854940
NM_007294.4(BRCA1):c.2915del (p.Gly972fs) rs80357573
NM_007294.4(BRCA1):c.2960_2964del (p.Lys987fs) rs1555588625
NM_007294.4(BRCA1):c.2995C>T (p.Leu999=) rs80356848
NM_007294.4(BRCA1):c.3001G>T (p.Glu1001Ter) rs886038007
NM_007294.4(BRCA1):c.3138_3141del (p.Gly1048fs) rs1064794177
NM_007294.4(BRCA1):c.3143G>T (p.Gly1048Val) rs80356899
NM_007294.4(BRCA1):c.3144T>C (p.Gly1048=) rs80356837
NM_007294.4(BRCA1):c.3228_3229del (p.Gly1077fs) rs80357635
NM_007294.4(BRCA1):c.3285del (p.Lys1095fs) rs397509051
NM_007294.4(BRCA1):c.3327A>G (p.Lys1109=) rs41293449
NM_007294.4(BRCA1):c.3341AAG[1] (p.Glu1115del) rs80358336
NM_007294.4(BRCA1):c.3342_3345del (p.Glu1114_Glu1115insTer) rs397509058
NM_007294.4(BRCA1):c.3351dup (p.Gln1118fs) rs80357785
NM_007294.4(BRCA1):c.3426A>G (p.Ala1142=) rs80356843
NM_007294.4(BRCA1):c.3463G>C (p.Asp1155His) rs80357484
NM_007294.4(BRCA1):c.346del (p.Glu116fs) rs762635795
NM_007294.4(BRCA1):c.3600G>T (p.Gln1200His) rs56214134
NM_007294.4(BRCA1):c.3603T>G (p.Gly1201=) rs80356830
NM_007294.4(BRCA1):c.3629dup (p.Ser1211fs) rs886040154
NM_007294.4(BRCA1):c.3640G>T (p.Glu1214Ter) rs80356923
NM_007294.4(BRCA1):c.3714_3747del (p.Gln1240fs) rs886038023
NM_007294.4(BRCA1):c.372C>A (p.Ile124=) rs273900715
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs) rs80357868
NM_007294.4(BRCA1):c.3759T>G (p.Ser1253=) rs80356852
NM_007294.4(BRCA1):c.3853del (p.Ser1286fs) rs397507222
NM_007294.4(BRCA1):c.3895C>T (p.Gln1299Ter) rs80357038
NM_007294.4(BRCA1):c.3916_3917del (p.Leu1306fs) rs80357678
NM_007294.4(BRCA1):c.4026A>G (p.Ser1342=) rs80356828
NM_007294.4(BRCA1):c.403A>T (p.Lys135Ter) rs879255485
NM_007294.4(BRCA1):c.4050_4051insG (p.Leu1351fs) rs483353092
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs) rs80357508
NM_007294.4(BRCA1):c.4074G>A (p.Glu1358=) rs80356846
NM_007294.4(BRCA1):c.4096+3A>G rs80358015
NM_007294.4(BRCA1):c.4097-141A>C rs799916
NM_007294.4(BRCA1):c.4146C>A (p.Cys1382Ter) rs1057517574
NM_007294.4(BRCA1):c.4165_4166del (p.Gln1388_Ser1389insTer) rs80357572
NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter) rs80357260
NM_007294.4(BRCA1):c.4255G>C (p.Glu1419Gln) rs80357309
NM_007294.4(BRCA1):c.42C>A (p.Val14=) rs80356827
NM_007294.4(BRCA1):c.4327C>G (p.Arg1443Gly) rs41293455
NM_007294.4(BRCA1):c.4386dup (p.Tyr1463fs) rs786204267
NM_007294.4(BRCA1):c.4636G>T (p.Asp1546Tyr) rs28897691
NM_007294.4(BRCA1):c.4655_4658del (p.Tyr1552fs) rs80357561
NM_007294.4(BRCA1):c.4833C>T (p.Ala1611=) rs80356842
NM_007294.4(BRCA1):c.4837_4838delinsGCC (p.Ser1613fs) rs730880287
NM_007294.4(BRCA1):c.4893T>C (p.Ser1631=) rs80356850
NM_007294.4(BRCA1):c.4903G>T (p.Glu1635Ter) rs200432771
NM_007294.4(BRCA1):c.4986+6T>G rs80358086
NM_007294.4(BRCA1):c.4987-1G>A rs730881495
NM_007294.4(BRCA1):c.5044G>A (p.Glu1682Lys) rs80356958
NM_007294.4(BRCA1):c.5050_5051del (p.Thr1684fs) rs879255283
NM_007294.4(BRCA1):c.5053A>G (p.Thr1685Ala) rs80356890
NM_007294.4(BRCA1):c.5054_5057dup (p.Val1687fs) rs879254050
NM_007294.4(BRCA1):c.5059GTT[1] (p.Val1688del) rs80358344
NM_007294.4(BRCA1):c.5074+1G>T rs80358053
NM_007294.4(BRCA1):c.5074+2T>C rs80358089
NM_007294.4(BRCA1):c.5095C>A (p.Arg1699=) rs55770810
NM_007294.4(BRCA1):c.5113C>T (p.Leu1705=) rs80356858
NM_007294.4(BRCA1):c.5117G>A (p.Gly1706Glu) rs80356860
NM_007294.4(BRCA1):c.5133del (p.Lys1711fs) rs730880288
NM_007294.4(BRCA1):c.5143A>C (p.Ser1715Arg) rs80357222
NM_007294.4(BRCA1):c.5144G>A (p.Ser1715Asn) rs45444999
NM_007294.4(BRCA1):c.5150del (p.Phe1717fs) rs80357720
NM_007294.4(BRCA1):c.5152+85del rs8176259
NM_007294.4(BRCA1):c.5153-1G>C rs80358137
NM_007294.4(BRCA1):c.5186del (p.Leu1729fs) rs398122692
NM_007294.4(BRCA1):c.5198A>G (p.Asp1733Gly) rs80357270
NM_007294.4(BRCA1):c.5212G>A (p.Gly1738Arg) rs80356937
NM_007294.4(BRCA1):c.5256A>C (p.Ala1752=) rs80356844
NM_007294.4(BRCA1):c.5291T>C (p.Leu1764Pro) rs80357281
NM_007294.4(BRCA1):c.5297T>G (p.Ile1766Ser) rs80357463
NM_007294.4(BRCA1):c.5302del (p.Cys1768fs) rs886040289
NM_007294.4(BRCA1):c.5309G>T (p.Gly1770Val) rs863224765
NM_007294.4(BRCA1):c.5310_5311del (p.Pro1771fs) rs587781825
NM_007294.4(BRCA1):c.5324T>A (p.Met1775Lys) rs41293463
NM_007294.4(BRCA1):c.5363G>A (p.Gly1788Asp) rs80357069
NM_007294.4(BRCA1):c.5406A>C (p.Thr1802=) rs879255493
NM_007294.4(BRCA1):c.5431C>T (p.Gln1811Ter) rs397509283
NM_007294.4(BRCA1):c.5464_5465insT (p.His1822fs) rs273902769
NM_007294.4(BRCA1):c.5466T>C (p.His1822=) rs886052975
NM_007294.4(BRCA1):c.548-58del rs8176144
NM_007294.4(BRCA1):c.5502_5503dup (p.Arg1835fs) rs397509291
NM_007294.4(BRCA1):c.5509T>C (p.Trp1837Arg) rs80356959
NM_007294.4(BRCA1):c.5513T>A (p.Val1838Glu) rs80357107
NM_007294.4(BRCA1):c.5516T>C (p.Leu1839Ser) rs398122702
NM_007294.4(BRCA1):c.5524_5531del (p.Val1842fs) rs879255287
NM_007294.4(BRCA1):c.5532C>T (p.Leu1844=) rs80356829
NM_007294.4(BRCA1):c.5536C>T (p.Gln1846Ter) rs80356873
NM_007294.4(BRCA1):c.5538G>A (p.Gln1846=) rs80356849
NM_007294.4(BRCA1):c.5541C>A (p.Cys1847Ter) rs397509295
NM_007294.4(BRCA1):c.5556_5560del (p.Tyr1853fs) rs886040305
NM_007294.4(BRCA1):c.567T>C (p.Asp189=) rs80356845
NM_007294.4(BRCA1):c.61del (p.Ile21fs) rs273902778
NM_007294.4(BRCA1):c.65T>C (p.Leu22Ser) rs80357438
NM_007294.4(BRCA1):c.685del (p.Ser229fs) rs80357824
NM_007294.4(BRCA1):c.715del (p.His239fs) rs879255294
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs) rs80357724
NM_007294.4(BRCA1):c.81-13C>G rs56328013
NM_007294.4(BRCA1):c.81-14C>T rs80358006
NM_007294.4(BRCA1):c.81-9C>G rs80358127
NM_007294.4(BRCA1):c.823G>A (p.Gly275Ser) rs8176153
NM_007294.4(BRCA1):c.958A>C (p.Arg320=) rs1131692065

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