ClinVar Miner

Variants from Breast Cancer Information Core (BIC) (BRCA1) with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from Breast Cancer Information Core (BIC) (BRCA1): Collection method of the submission from Breast Cancer Information Core (BIC) (BRCA1):
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

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 Variants with at least 2 submissions 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 kind of conflict
207 970 18 94 374 4 108 565

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
Breast Cancer Information Core (BIC) (BRCA1) pathogenic likely pathogenic uncertain significance likely benign benign association drug response protective risk factor other
pathogenic 2 69 9 3 2 1 1 1 2 1
uncertain significance 73 65 12 345 219 1 1 1 0 0
benign 0 1 5 25 4 0 0 0 0 0

Submitter to submitter summary #

Total submitters: 147
Download table as spreadsheet
Submitter Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
Color 0 331 0 27 264 0 25 316
Ambry Genetics 0 640 0 22 192 0 69 283
Invitae 0 367 0 21 217 0 25 261
GeneDx 0 411 0 11 196 0 35 241
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 771 0 6 177 0 36 219
Sharing Clinical Reports Project (SCRP) 0 361 0 5 140 0 33 178
Counsyl 0 227 0 33 106 0 17 156
Integrated Genetics/Laboratory Corporation of America 0 304 0 6 106 0 31 143
Department of Pathology and Laboratory Medicine,Sinai Health System 0 146 0 3 83 0 10 96
Quest Diagnostics Nichols Institute San Juan Capistrano 0 325 0 5 64 0 22 91
Mendelics 0 71 0 6 55 0 8 69
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 59 0 1 47 0 2 50
PreventionGenetics,PreventionGenetics 0 38 0 4 45 0 0 49
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 611 0 0 0 0 47 47
Michigan Medical Genetics Laboratories,University of Michigan 0 56 0 1 31 0 1 33
True Health Diagnostics 0 4 0 5 22 0 1 28
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 48 0 3 24 0 1 27
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 58 0 0 26 0 1 27
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 0 340 0 2 11 0 13 26
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 4 16 2 7 0 0 25
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 33 0 0 21 0 2 23
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 62 0 2 16 0 4 22
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 11 0 2 20 0 0 22
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 25 0 0 21 0 0 21
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency 0 19 0 0 19 0 2 21
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 66 0 0 18 0 3 21
Baylor Genetics 0 35 0 1 18 0 1 19
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 30 0 0 17 0 1 18
Pathway Genomics 0 18 0 2 15 0 1 18
GeneKor MSA 0 74 0 3 10 0 4 17
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 63 0 1 9 0 6 16
Fulgent Genetics,Fulgent Genetics 0 28 0 1 11 0 4 16
CSER _CC_NCGL, University of Washington 0 18 0 4 11 0 1 16
Illumina Clinical Services Laboratory,Illumina 0 8 0 6 9 0 1 15
Genetic Services Laboratory, University of Chicago 0 18 0 2 10 0 0 12
CeGaT Praxis fuer Humangenetik Tuebingen 0 11 0 1 8 0 1 10
Department of Medical Genetics,Oslo University Hospital 0 74 0 2 0 0 8 9
Vantari Genetics 0 3 0 1 8 0 0 9
Department of Medical Genetics,University Hospital of North Norway 0 2 0 0 5 0 3 8
OMIM 0 29 0 0 0 2 5 7
Department of Pathology and Molecular Medicine,Queen's University 0 22 0 0 6 0 0 6
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 7 0 0 5 0 0 5
GeneReviews 0 0 2 0 0 0 2 4
Genologica Medica 0 19 0 0 0 0 4 4
Cancer Variant Interpretation Group UK,Institute of Cancer Research, London 0 0 0 0 1 0 3 4
3DMed Clinical Laboratory Inc 0 15 0 0 1 0 2 3
University of Washington Department of Laboratory Medicine, University of Washington 0 10 0 0 1 0 2 3
Hereditary Cancer Genetics group,Vall d'Hebron Institute of Oncology 0 4 0 0 2 0 1 3
Academic Department of Medical Genetics, University of Cambridge 0 0 0 1 0 0 1 2
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 15 0 0 0 0 2 2
Breast Cancer Information Core (BIC) (BRCA1) 1737 3 0 0 1 0 1 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 0 1 0 1 2
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 0 2 0 0 2
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne 0 41 0 1 0 0 1 2
Athena Diagnostics Inc 0 0 0 0 1 0 1 1
Collagen Diagnostic Laboratory,University of Washington 0 0 0 0 0 0 1 1
Clinical Biochemistry Laboratory,Health Services Laboratory 0 0 0 0 0 0 1 1
Elsea Laboratory,Baylor College of Medicine 0 0 0 0 0 0 1 1
Genetics - Viapath,Viapath, Guy's Hospital 0 0 0 0 0 0 1 1
Division Human Genetics,Medical University Innsbruck 0 14 0 0 0 0 1 1
Columbia University Laboratory of Personalized Genomic Medicine,Columbia University Medical Center 0 0 0 0 0 0 1 1
Endocrinology Clinic, Seth G.S. Medical College 0 0 0 0 0 0 1 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 1 0 0 1 1
PXE International 0 0 0 0 0 0 1 1
Institute of Human Genetics,Klinikum rechts der Isar 0 0 0 0 0 0 1 1
Department of Psychiatry,Nagoya University 0 0 0 1 0 0 1 1
Shaikh Laboratory, University of Colorado 0 0 0 1 0 0 1 1
University of British Columbia 0 0 0 1 0 0 1 1
Department of Molecular Endocrinology,National Research Institute for Child Health and Development 0 0 0 0 0 0 1 1
Center for Medical Genetics Ghent,University of Ghent 0 0 0 1 0 0 1 1
Department of Molecular and Human Genetics, Baylor College of Medicine 0 0 0 0 0 0 1 1
Institute of Pediatric Research,Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine 0 0 0 0 0 0 1 1
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics 0 0 0 0 0 1 0 1
Science and Research Branch, Islamic Azad University,Islamic Azad University 0 0 0 0 0 0 1 1
Lyon Laboratory, Cold Spring Harbor Laboratory 0 0 0 0 0 0 1 1
Centre of Medical Genetics, University of Antwerp 0 0 0 0 0 0 1 1
Institute for Ophthalmic Research,University Tuebingen 0 0 0 0 0 0 1 1
Dobyns Lab,Seattle Children's Research Institute 0 0 0 0 0 0 1 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 1 0 1 0 0 1 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 1 0 0 1 1
Department of Clinical Genetics,Tartu University Hospital 0 0 0 0 0 0 1 1
Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health 0 0 0 0 0 0 1 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 0 0 0 0 1 1
Centro de Genética y Biología Molecular, Universidad de San Martín de Porres 0 0 0 0 0 0 1 1
Genome Sciences Centre,British Columbia Cancer Agency 0 0 0 1 0 0 1 1
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust 0 0 0 0 0 0 1 1
Prof. Thelma's Laboratory, Department of Genetics,University of Delhi South Campus 0 0 0 1 0 0 1 1
Ludwig Lab, Institute of Human Genetics, University Hospital Bonn 0 0 0 1 0 0 1 1
Laboratory of Genetics, AOUP,Azienda Ospedaliera Universitaria Pisana 0 0 0 0 0 0 1 1
Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc. 0 1 0 0 0 0 1 1
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo 0 0 0 1 0 0 1 1
Department of Pediatrics and Neonatology,Nagoya City University Graduate School of Medical Sciences 0 0 0 0 0 0 1 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 0 0 0 0 1 1
Geschwind lab,University of California Los Angeles 0 0 0 1 0 1 1 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 8 0 0 0 0 1 1
Department of Medical Biochemistry and Genetics,University of Turku 0 0 0 1 0 0 1 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 0 0 0 0 1 0 1
Department of Medical Genetics, National Institute of Health 0 0 0 0 0 0 1 1
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 0 0 0 0 0 1 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 0 0 0 0 1 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 5 0 0 0 0 1 1
Zuffardi lab,University of Pavia 0 0 0 0 0 0 1 1
Pediatric Highly Intensive Care Unit,Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 0 0 0 0 0 0 1 1
Robarts Research Institute,Western University 0 0 0 1 0 0 1 1
Daryl Scott Lab,Baylor College of Medicine 0 0 0 0 0 0 1 1
Neurogenetics Laboratory - MEYER,AOU Meyer 0 0 0 0 0 0 1 1
MVZ Praenatalmedizin und Genetik Nuernberg 0 2 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 0 0 1 0 0 1 1
Undiagnosed Diseases Network,NIH 0 0 0 1 0 0 1 1
Center for Breast Cancer,National Cancer Center 0 0 0 0 0 0 1 1
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center 0 22 0 0 0 0 1 1
Tim Yu lab,Boston Children's Hospital 0 0 0 0 0 0 1 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 1 0 0 1 1
Cancer Prevention Center, Yonsei Cancer Center,Severance Hospital, Yonsei University College of Medicine 0 0 0 0 0 0 1 1
Laboratoire de Biologie et Génétique du Cancer,Centre François Baclesse 0 1 0 0 0 0 1 1
Medical Genetics Laboratory,Aldo Moro University of Bari 0 0 0 0 0 0 1 1
Herman Laboratory,Nationwide Children's Hospital 0 0 0 0 0 0 1 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 0 1 1 0 1 1
Department of Medical Sciences,Uppsala University 0 0 0 0 0 0 1 1
Department of Obstetrics and Gynecology,Helsinki University Hospital 0 0 0 1 0 0 1 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 0 1 1 0 1 1
Yang An-Suei Laboratory,Academia Sinica 0 1 0 0 0 0 1 1
Institute of Cellular and Molecular Medicine,Copenhagen University 0 0 0 1 0 0 1 1
Flegel Lab,National Institutes of Health 0 0 0 0 0 0 1 1
Biologia e Medicina Molecolare, Sapienza University of Rome 0 0 0 0 0 0 1 1
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 0 0 0 1 0 1 1
Molecular Genetics Laboratory,State University of Campinas 0 0 0 1 0 0 1 1
Emory University School of Medicine, Department of Human Genetics,Emory University 0 0 0 0 0 0 1 1
Clinical genetics,CHU Grenoble-Alpes 0 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 0 1 0 0 1 1
Reproductive Development, Murdoch Childrens Research Institute 0 0 0 0 0 0 1 1
Dept. of Medical Genetics, Telemark Hospital Trust 0 0 0 1 0 0 1 1
Laboratoire de Genetique Moleculaire,Centre Hospitalier Universitaire de Bordeaux 0 0 0 0 0 0 1 1
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 0 0 0 1 0 0 1 1
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano 0 0 0 0 1 0 1 1
Broad Institute Rare Disease Group,Broad Institute 0 0 0 1 0 0 1 1
Raymond Lab,University of Cambridge 0 0 0 0 0 0 1 1
Michaelson Lab,University of Iowa 0 0 0 0 0 0 1 1
Mayo Clinic Genomics Laboratory,Mayo Clinic 0 0 0 0 0 0 1 1
Molecular Pathology Diagnostics Labratory,University of Iowa Hospitals & Clinics 0 0 0 1 0 0 1 1
Genetic Diseases Diagnostic Center,Koc University Hospital 0 0 0 1 0 0 1 1
Inherited Eye Disorders lab,UCL Institute of Ophthalmology 0 0 0 0 0 0 1 1
Biochemistry Laboratory of CDMU,Chengde Medical University 0 0 0 1 0 0 1 1
Reproductive Health Research and Development,BGI Genomics 0 0 0 0 0 0 1 1
Clinical Genetics Research Group,Karolinska Institutet 0 0 0 0 0 0 1 1
UT Southwestern Medical Center, UT Southwestern Medical Center 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 565
Download table as spreadsheet
HGVS dbSNP
NM_007294.3(BRCA1):c.-19-115T>C rs3765640
NM_007294.3(BRCA1):c.-19-22_-19-21dupAT rs273898667
NM_007294.3(BRCA1):c.-19-3A>G rs273898669
NM_007294.3(BRCA1):c.-19-5T>C rs273898671
NM_007294.3(BRCA1):c.-20+11C>T rs273898672
NM_007294.3(BRCA1):c.1001C>T (p.Pro334Leu) rs41286290
NM_007294.3(BRCA1):c.1036C>T (p.Pro346Ser) rs80357015
NM_007294.3(BRCA1):c.1065G>A (p.Lys355=) rs41286292
NM_007294.3(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950
NM_007294.3(BRCA1):c.1081T>C (p.Ser361Pro) rs80356946
NM_007294.3(BRCA1):c.1105G>A (p.Asp369Asn) rs56056711
NM_007294.3(BRCA1):c.1106_1108del (p.Asp369del) rs80358325
NM_007294.3(BRCA1):c.110C>A (p.Thr37Lys) rs80356880
NM_007294.3(BRCA1):c.110C>G (p.Thr37Arg) rs80356880
NM_007294.3(BRCA1):c.1137T>G (p.Ile379Met) rs56128296
NM_007294.3(BRCA1):c.114G>A (p.Lys38=) rs1800062
NM_007294.3(BRCA1):c.115T>A (p.Cys39Ser) rs80357164
NM_007294.3(BRCA1):c.115T>C (p.Cys39Arg) rs80357164
NM_007294.3(BRCA1):c.116G>A (p.Cys39Tyr) rs80357498
NM_007294.3(BRCA1):c.1222A>G (p.Lys408Glu) rs80357253
NM_007294.3(BRCA1):c.122A>G (p.His41Arg) rs80357276
NM_007294.3(BRCA1):c.1233T>G (p.Asp411Glu) rs80357024
NM_007294.3(BRCA1):c.124A>G (p.Ile42Val) rs80357163
NM_007294.3(BRCA1):c.1250A>G (p.Asn417Ser) rs80357113
NM_007294.3(BRCA1):c.1258G>T (p.Asp420Tyr) rs80357488
NM_007294.3(BRCA1):c.130T>A (p.Cys44Ser) rs80357327
NM_007294.3(BRCA1):c.131G>A (p.Cys44Tyr) rs80357446
NM_007294.3(BRCA1):c.131G>T (p.Cys44Phe) rs80357446
NM_007294.3(BRCA1):c.134+1G>C rs80358043
NM_007294.3(BRCA1):c.134+1G>T rs80358043
NM_007294.3(BRCA1):c.134+2T>C rs80358131
NM_007294.3(BRCA1):c.134+2del rs273897657
NM_007294.3(BRCA1):c.134+5G>A rs80358038
NM_007294.3(BRCA1):c.135-20T>G rs80358025
NM_007294.3(BRCA1):c.1383T>A (p.Phe461Leu) rs56046357
NM_007294.3(BRCA1):c.1396C>T (p.Arg466Trp) rs80356964
NM_007294.3(BRCA1):c.139T>G (p.Cys47Gly) rs80357370
NM_007294.3(BRCA1):c.140G>T (p.Cys47Phe) rs80357150
NM_007294.3(BRCA1):c.1418A>G (p.Asn473Ser) rs80357057
NM_007294.3(BRCA1):c.1418A>T (p.Asn473Ile) rs80357057
NM_007294.3(BRCA1):c.1427A>G (p.His476Arg) rs55720177
NM_007294.3(BRCA1):c.1486C>T (p.Arg496Cys) rs28897676
NM_007294.3(BRCA1):c.1487G>A (p.Arg496His) rs28897677
NM_007294.3(BRCA1):c.1504_1508del (p.Leu502fs) rs80357888
NM_007294.3(BRCA1):c.1508A>G (p.Lys503Arg) rs62625304
NM_007294.3(BRCA1):c.1511G>A (p.Arg504His) rs56272539
NM_007294.3(BRCA1):c.1534C>T (p.Leu512Phe) rs41286294
NM_007294.3(BRCA1):c.154C>T (p.Leu52Phe) rs80357084
NM_007294.3(BRCA1):c.1561G>A (p.Ala521Thr) rs80357122
NM_007294.3(BRCA1):c.1573G>A (p.Val525Ile) rs80357273
NM_007294.3(BRCA1):c.1581G>C (p.Lys527Asn) rs80357493
NM_007294.3(BRCA1):c.1601A>G (p.Gln534Arg) rs80357173
NM_007294.3(BRCA1):c.1616C>T (p.Thr539Met) rs80357374
NM_007294.3(BRCA1):c.1703C>T (p.Pro568Leu) rs80356910
NM_007294.3(BRCA1):c.1712T>C (p.Ile571Thr) rs80357159
NM_007294.3(BRCA1):c.1772T>C (p.Ile591Thr) rs80356859
NM_007294.3(BRCA1):c.1789G>A (p.Glu597Lys) rs55650082
NM_007294.3(BRCA1):c.181T>C (p.Cys61Arg) rs28897672
NM_007294.3(BRCA1):c.182G>A (p.Cys61Tyr) rs80357093
NM_007294.3(BRCA1):c.1834A>G (p.Arg612Gly) rs80357245
NM_007294.3(BRCA1):c.1843_1845TCT[1] (p.Ser616del) rs80358329
NM_007294.3(BRCA1):c.1865C>T (p.Ala622Val) rs56039126
NM_007294.3(BRCA1):c.1866G>T (p.Ala622=) rs1800064
NM_007294.3(BRCA1):c.1879G>A (p.Val627Ile) rs80357425
NM_007294.3(BRCA1):c.1893A>G (p.Leu631=) rs80356834
NM_007294.3(BRCA1):c.1897C>T (p.Pro633Ser) rs80356902
NM_007294.3(BRCA1):c.190T>C (p.Cys64Arg) rs80357064
NM_007294.3(BRCA1):c.190T>G (p.Cys64Gly) rs80357064
NM_007294.3(BRCA1):c.1911T>C (p.Thr637=) rs62625305
NM_007294.3(BRCA1):c.1912G>A (p.Glu638Lys) rs80357005
NM_007294.3(BRCA1):c.191G>A (p.Cys64Tyr) rs55851803
NM_007294.3(BRCA1):c.1924G>C (p.Asp642His) rs80357344
NM_007294.3(BRCA1):c.1927A>G (p.Ser643Gly) rs80357105
NM_007294.3(BRCA1):c.1961del (p.Lys654fs) rs80357522
NM_007294.3(BRCA1):c.1961dup (p.Tyr655fs) rs80357522
NM_007294.3(BRCA1):c.1971A>G (p.Gln657=) rs28897679
NM_007294.3(BRCA1):c.1974G>C (p.Met658Ile) rs55678461
NM_007294.3(BRCA1):c.2002C>T (p.Leu668Phe) rs80357250
NM_007294.3(BRCA1):c.2006T>C (p.Met669Thr) rs80356895
NM_007294.3(BRCA1):c.2060A>C (p.Gln687Pro) rs28897680
NM_007294.3(BRCA1):c.2077G>A (p.Asp693Asn) rs4986850
NM_007294.3(BRCA1):c.2079C>T (p.Asp693=) rs80356835
NM_007294.3(BRCA1):c.2083G>A (p.Asp695Asn) rs28897681
NM_007294.3(BRCA1):c.2083G>T (p.Asp695Tyr) rs28897681
NM_007294.3(BRCA1):c.2086A>G (p.Thr696Ala) rs80357441
NM_007294.3(BRCA1):c.2103G>A (p.Lys701=) rs273898677
NM_007294.3(BRCA1):c.2105T>G (p.Leu702Ter) rs80357298
NM_007294.3(BRCA1):c.212+10T>G rs80358174
NM_007294.3(BRCA1):c.2123C>A (p.Ser708Tyr) rs80357182
NM_007294.3(BRCA1):c.213-161A>G rs799912
NM_007294.3(BRCA1):c.213-8A>C rs80358159
NM_007294.3(BRCA1):c.2130T>G (p.Thr710=) rs273898678
NM_007294.3(BRCA1):c.2155A>G (p.Lys719Glu) rs80357147
NM_007294.3(BRCA1):c.2167A>G (p.Asn723Asp) rs4986845
NM_007294.3(BRCA1):c.2175C>T (p.Ser725=) rs273898680
NM_007294.3(BRCA1):c.2180C>T (p.Pro727Leu) rs80356912
NM_007294.3(BRCA1):c.2188_2201del (p.Glu730fs) rs273898681
NM_007294.3(BRCA1):c.2222C>T (p.Ser741Phe) rs80357051
NM_007294.3(BRCA1):c.2232T>C (p.Ala744=) rs4986846
NM_007294.3(BRCA1):c.2268G>C (p.Arg756Ser) rs80356884
NM_007294.3(BRCA1):c.2286A>T (p.Arg762Ser) rs273898682
NM_007294.3(BRCA1):c.231G>T (p.Thr77=) rs80356847
NM_007294.3(BRCA1):c.2347A>G (p.Ile783Val) rs80356948
NM_007294.3(BRCA1):c.2368A>G (p.Thr790Ala) rs41286298
NM_007294.3(BRCA1):c.2389G>T (p.Glu797Ter) rs62625306
NM_007294.3(BRCA1):c.2412G>C (p.Gln804His) rs55746541
NM_007294.3(BRCA1):c.2416G>A (p.Ala806Thr) rs80357144
NM_007294.3(BRCA1):c.2428A>T (p.Asn810Tyr) rs28897682
NM_007294.3(BRCA1):c.243del (p.Gln81fs) rs273899684
NM_007294.3(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113
NM_007294.3(BRCA1):c.2473G>T (p.Asp825Tyr) rs80357328
NM_007294.3(BRCA1):c.2477C>A (p.Thr826Lys) rs28897683
NM_007294.3(BRCA1):c.2483_2485del (p.Gly828_Phe829delinsVal) rs80358331
NM_007294.3(BRCA1):c.2507_2508del (p.Glu836fs) rs273899686
NM_007294.3(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709
NM_007294.3(BRCA1):c.2522G>A (p.Arg841Gln) rs80357337
NM_007294.3(BRCA1):c.2568T>C (p.Tyr856=) rs80356832
NM_007294.3(BRCA1):c.2584A>G (p.Lys862Glu) rs80356927
NM_007294.3(BRCA1):c.2597G>A (p.Arg866His) rs80356911
NM_007294.3(BRCA1):c.2612C>T (p.Pro871Leu) rs799917
NM_007294.3(BRCA1):c.2662C>T (p.His888Tyr) rs80357480
NM_007294.3(BRCA1):c.2668G>A (p.Gly890Arg) rs80357200
NM_007294.3(BRCA1):c.2679_2682del (p.Lys893fs) rs80357596
NM_007294.3(BRCA1):c.267C>G (p.Ile89Met) rs80356963
NM_007294.3(BRCA1):c.2726A>T (p.Asn909Ile) rs80357127
NM_007294.3(BRCA1):c.2758G>A (p.Val920Ile) rs80357361
NM_007294.3(BRCA1):c.2773A>C (p.Ile925Leu) rs4986847
NM_007294.3(BRCA1):c.2884G>A (p.Glu962Lys) rs80356955
NM_007294.3(BRCA1):c.2915del (p.Gly972fs) rs80357573
NM_007294.3(BRCA1):c.2931A>G (p.Pro977=) rs273899691
NM_007294.3(BRCA1):c.2935C>T (p.Arg979Cys) rs80356970
NM_007294.3(BRCA1):c.2936G>A (p.Arg979His) rs80356985
NM_007294.3(BRCA1):c.2995C>T (p.Leu999=) rs80356848
NM_007294.3(BRCA1):c.2998_3003del (p.Glu1000_Glu1001del) rs80358333
NM_007294.3(BRCA1):c.2T>C (p.Met1Thr) rs80357111
NM_007294.3(BRCA1):c.301+10G>A rs80358001
NM_007294.3(BRCA1):c.301+2dup rs273899694
NM_007294.3(BRCA1):c.301+7G>A rs80358113
NM_007294.3(BRCA1):c.301+8T>C rs80358101
NM_007294.3(BRCA1):c.302-1G>T rs80358116
NM_007294.3(BRCA1):c.302-3C>G rs80358051
NM_007294.3(BRCA1):c.3022A>G (p.Met1008Val) rs56321129
NM_007294.3(BRCA1):c.3055A>G (p.Ile1019Val) rs80357311
NM_007294.3(BRCA1):c.305C>G (p.Ala102Gly) rs80357190
NM_007294.3(BRCA1):c.3082C>T (p.Arg1028Cys) rs80357049
NM_007294.3(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852
NM_007294.3(BRCA1):c.3130A>G (p.Ile1044Val) rs80357271
NM_007294.3(BRCA1):c.3143G>T (p.Gly1048Val) rs80356899
NM_007294.3(BRCA1):c.3144T>C (p.Gly1048=) rs80356837
NM_007294.3(BRCA1):c.314A>G (p.Tyr105Cys) rs28897673
NM_007294.3(BRCA1):c.3179A>C (p.Glu1060Ala) rs80357184
NM_007294.3(BRCA1):c.3226_3227AG[1] (p.Gly1077fs) rs80357635
NM_007294.3(BRCA1):c.3302G>A (p.Ser1101Asn) rs41293447
NM_007294.3(BRCA1):c.3327A>G (p.Lys1109=) rs41293449
NM_007294.3(BRCA1):c.3327_3329del (p.Lys1110del) rs80357575
NM_007294.3(BRCA1):c.3328_3330del (p.Lys1110del) rs80358335
NM_007294.3(BRCA1):c.3341_3343AAG[1] (p.Glu1115del) rs80358336
NM_007294.3(BRCA1):c.3342_3345del (p.Glu1114_Glu1115insTer) rs397509058
NM_007294.3(BRCA1):c.3346G>C (p.Val1116Leu) rs55909400
NM_007294.3(BRCA1):c.3351dup (p.Gln1118fs) rs80357785
NM_007294.3(BRCA1):c.3355A>T (p.Thr1119Ser) rs80356949
NM_007294.3(BRCA1):c.3362A>G (p.Asn1121Ser) rs80356919
NM_007294.3(BRCA1):c.3367G>T (p.Asp1123Tyr) rs80356867
NM_007294.3(BRCA1):c.3410T>C (p.Met1137Thr) rs80357297
NM_007294.3(BRCA1):c.3415_3417AGT[1] (p.Ser1140del) rs80358337
NM_007294.3(BRCA1):c.3416G>T (p.Ser1139Ile) rs80357228
NM_007294.3(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945
NM_007294.3(BRCA1):c.3426A>G (p.Ala1142=) rs80356843
NM_007294.3(BRCA1):c.3448C>T (p.Pro1150Ser) rs80357272
NM_007294.3(BRCA1):c.3454G>A (p.Asp1152Asn) rs80357175
NM_007294.3(BRCA1):c.3463G>C (p.Asp1155His) rs80357484
NM_007294.3(BRCA1):c.3541G>A (p.Val1181Ile) rs56336919
NM_007294.3(BRCA1):c.3548A>G (p.Lys1183Arg) rs16942
NM_007294.3(BRCA1):c.3560G>A (p.Ser1187Asn) rs80356975
NM_007294.3(BRCA1):c.3600G>T (p.Gln1200His) rs56214134
NM_007294.3(BRCA1):c.3601G>A (p.Gly1201Ser) rs55725337
NM_007294.3(BRCA1):c.3603T>G (p.Gly1201=) rs80356830
NM_007294.3(BRCA1):c.3640G>A (p.Glu1214Lys) rs80356923
NM_007294.3(BRCA1):c.3640G>T (p.Glu1214Ter) rs80356923
NM_007294.3(BRCA1):c.3657G>C (p.Glu1219Asp) rs80356876
NM_007294.3(BRCA1):c.3691T>C (p.Phe1231Leu) rs41293451
NM_007294.3(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687
NM_007294.3(BRCA1):c.370A>G (p.Ile124Val) rs80357448
NM_007294.3(BRCA1):c.3711A>G (p.Ile1237Met) rs80357388
NM_007294.3(BRCA1):c.3713C>T (p.Pro1238Leu) rs28897688
NM_007294.3(BRCA1):c.3722C>A (p.Ser1241Tyr) rs80357143
NM_007294.3(BRCA1):c.3724A>G (p.Thr1242Ala) rs80357037
NM_007294.3(BRCA1):c.372C>A (p.Ile124=) rs273900715
NM_007294.3(BRCA1):c.3739G>A (p.Val1247Ile) rs80357191
NM_007294.3(BRCA1):c.3748G>A (p.Glu1250Lys) rs28897686
NM_007294.3(BRCA1):c.3752_3755GTCT[1] (p.Ser1253fs) rs80357868
NM_007294.3(BRCA1):c.3759T>G (p.Ser1253=) rs80356852
NM_007294.3(BRCA1):c.3776A>C (p.Asn1259Thr) rs483353090
NM_007294.3(BRCA1):c.3783A>G (p.Leu1261=) rs80356831
NM_007294.3(BRCA1):c.3797G>C (p.Ser1266Thr) rs80357160
NM_007294.3(BRCA1):c.3835G>A (p.Ala1279Thr) rs80357036
NM_007294.3(BRCA1):c.3845A>T (p.Glu1282Val) rs80357217
NM_007294.3(BRCA1):c.3848A>G (p.His1283Arg) rs80357047
NM_007294.3(BRCA1):c.3895C>T (p.Gln1299Ter) rs80357038
NM_007294.3(BRCA1):c.389A>T (p.Tyr130Phe) rs56055578
NM_007294.3(BRCA1):c.3916_3917del (p.Leu1306fs) rs80357678
NM_007294.3(BRCA1):c.3929C>A (p.Thr1310Lys) rs80357257
NM_007294.3(BRCA1):c.3964A>T (p.Lys1322Ter) rs80357343
NM_007294.3(BRCA1):c.396C>A (p.Asn132Lys) rs80357413
NM_007294.3(BRCA1):c.397C>T (p.Arg133Cys) rs80357457
NM_007294.3(BRCA1):c.398G>A (p.Arg133His) rs80357357
NM_007294.3(BRCA1):c.4026A>G (p.Ser1342=) rs80356828
NM_007294.3(BRCA1):c.4036G>A (p.Glu1346Lys) rs80357407
NM_007294.3(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689
NM_007294.3(BRCA1):c.4046C>T (p.Thr1349Met) rs80357345
NM_007294.3(BRCA1):c.4050_4051insG (p.Leu1351fs) rs483353092
NM_007294.3(BRCA1):c.4060_4062AAT[1] (p.Asn1355del) rs80358341
NM_007294.3(BRCA1):c.4065_4068del (p.Asn1355fs) rs80357508
NM_007294.3(BRCA1):c.4074G>A (p.Glu1358=) rs80356846
NM_007294.3(BRCA1):c.4081A>C (p.Met1361Leu) rs80357218
NM_007294.3(BRCA1):c.4096+1G>A rs80358178
NM_007294.3(BRCA1):c.4096+3A>G rs80358015
NM_007294.3(BRCA1):c.4097-10G>A rs80358057
NM_007294.3(BRCA1):c.4097-11T>C rs80358072
NM_007294.3(BRCA1):c.4097-141A>C rs799916
NM_007294.3(BRCA1):c.4097-20C>T rs80358169
NM_007294.3(BRCA1):c.4097-7A>G rs80358007
NM_007294.3(BRCA1):c.4115G>A (p.Cys1372Tyr) rs55848034
NM_007294.3(BRCA1):c.4127C>G (p.Thr1376Arg) rs80356986
NM_007294.3(BRCA1):c.4132G>A (p.Val1378Ile) rs28897690
NM_007294.3(BRCA1):c.4166G>A (p.Ser1389Asn) rs78951648
NM_007294.3(BRCA1):c.4183C>T (p.Gln1395Ter) rs80357260
NM_007294.3(BRCA1):c.4184A>G (p.Gln1395Arg) rs80356972
NM_007294.3(BRCA1):c.4185+10G>A rs80358104
NM_007294.3(BRCA1):c.4185+10G>C rs80358104
NM_007294.3(BRCA1):c.4185+21_4185+22dupTG rs273900723
NM_007294.3(BRCA1):c.4185+9C>T rs80358034
NM_007294.3(BRCA1):c.4186-10G>A rs80358172
NM_007294.3(BRCA1):c.4186-11C>T rs80358080
NM_007294.3(BRCA1):c.4186-19C>T rs80358016
NM_007294.3(BRCA1):c.4204C>T (p.His1402Tyr) rs80357365
NM_007294.3(BRCA1):c.4213A>G (p.Ile1405Val) rs80357353
NM_007294.3(BRCA1):c.4232T>C (p.Met1411Thr) rs273900729
NM_007294.3(BRCA1):c.4245A>G (p.Glu1415=) rs41293453
NM_007294.3(BRCA1):c.4255G>C (p.Glu1419Gln) rs80357309
NM_007294.3(BRCA1):c.4261C>T (p.His1421Tyr) rs80357013
NM_007294.3(BRCA1):c.4262A>G (p.His1421Arg) rs80357079
NM_007294.3(BRCA1):c.4294A>C (p.Ile1432Leu) rs80357157
NM_007294.3(BRCA1):c.42C>A (p.Val14=) rs80356827
NM_007294.3(BRCA1):c.4314C>G (p.Ala1438=) rs80356856
NM_007294.3(BRCA1):c.4328G>A (p.Arg1443Gln) rs4986849
NM_007294.3(BRCA1):c.4342A>G (p.Ser1448Gly) rs80357486
NM_007294.3(BRCA1):c.4343G>A (p.Ser1448Asn) rs80357354
NM_007294.3(BRCA1):c.4347A>G (p.Thr1449=) rs80356840
NM_007294.3(BRCA1):c.4357+117G>A rs3737559
NM_007294.3(BRCA1):c.4357+1G>C rs80358027
NM_007294.3(BRCA1):c.4357+2T>G rs80358152
NM_007294.3(BRCA1):c.4357+6T>C rs80358143
NM_007294.3(BRCA1):c.4358-10C>T rs80358111
NM_007294.3(BRCA1):c.43A>C (p.Ile15Leu) rs80357031
NM_007294.3(BRCA1):c.4402A>C (p.Asn1468His) rs80357022
NM_007294.3(BRCA1):c.4410A>T (p.Glu1470Asp) rs80357075
NM_007294.3(BRCA1):c.4484+61G>T rs80358185
NM_007294.3(BRCA1):c.4484G>A (p.Arg1495Lys) rs80357389
NM_007294.3(BRCA1):c.4485-18T>A rs80358000
NM_007294.3(BRCA1):c.4485-1G>A rs80358189
NM_007294.3(BRCA1):c.4485-2A>G rs80358054
NM_007294.3(BRCA1):c.4485-63C>G rs273900734
NM_007294.3(BRCA1):c.4516del (p.Asp1506fs) rs273900736
NM_007294.3(BRCA1):c.4520G>C (p.Arg1507Thr) rs80357470
NM_007294.3(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744
NM_007294.3(BRCA1):c.4565A>G (p.Tyr1522Cys) rs80357379
NM_007294.3(BRCA1):c.457A>C (p.Ser153Arg) rs28897674
NM_007294.3(BRCA1):c.4585A>G (p.Ile1529Val) rs80357095
NM_007294.3(BRCA1):c.4600G>A (p.Val1534Met) rs55815649
NM_007294.3(BRCA1):c.4625C>G (p.Ser1542Cys) rs41293457
NM_007294.3(BRCA1):c.4636G>T (p.Asp1546Tyr) rs28897691
NM_007294.3(BRCA1):c.463C>G (p.Gln155Glu) rs80357180
NM_007294.3(BRCA1):c.4643C>T (p.Thr1548Met) rs273900737
NM_007294.3(BRCA1):c.4655_4658del (p.Tyr1552fs) rs80357561
NM_007294.3(BRCA1):c.4657T>A (p.Leu1553Met) rs80357431
NM_007294.3(BRCA1):c.4675+1G>A rs80358044
NM_007294.3(BRCA1):c.4675+3A>T rs80358082
NM_007294.3(BRCA1):c.4675+7T>C rs273900739
NM_007294.3(BRCA1):c.4675G>A (p.Glu1559Lys) rs80356988
NM_007294.3(BRCA1):c.4675G>C (p.Glu1559Gln) rs80356988
NM_007294.3(BRCA1):c.4676-11A>G rs80358088
NM_007294.3(BRCA1):c.4676-16C>G rs80358067
NM_007294.3(BRCA1):c.4676-1G>A rs80358008
NM_007294.3(BRCA1):c.4676-2A>G rs80358096
NM_007294.3(BRCA1):c.4676-7C>T rs80358005
NM_007294.3(BRCA1):c.4676-8C>G rs80358021
NM_007294.3(BRCA1):c.4729T>C (p.Ser1577Pro) rs80356909
NM_007294.3(BRCA1):c.4750G>T (p.Ala1584Ser) rs80357070
NM_007294.3(BRCA1):c.4766G>A (p.Arg1589His) rs80357341
NM_007294.3(BRCA1):c.4813T>C (p.Leu1605=) rs80356833
NM_007294.3(BRCA1):c.4816A>G (p.Lys1606Glu) rs80356943
NM_007294.3(BRCA1):c.4833C>T (p.Ala1611=) rs80356842
NM_007294.3(BRCA1):c.4837A>T (p.Ser1613Cys) rs1799966
NM_007294.3(BRCA1):c.484G>C (p.Val162Leu) rs55816927
NM_007294.3(BRCA1):c.4868C>G (p.Ala1623Gly) rs80356862
NM_007294.3(BRCA1):c.4882A>G (p.Met1628Val) rs80357465
NM_007294.3(BRCA1):c.4893T>C (p.Ser1631=) rs80356850
NM_007294.3(BRCA1):c.4903G>T (p.Glu1635Ter) rs200432771
NM_007294.3(BRCA1):c.4910C>T (p.Pro1637Leu) rs80357048
NM_007294.3(BRCA1):c.4935G>C (p.Arg1645Ser) rs80357373
NM_007294.3(BRCA1):c.4941C>A (p.Asn1647Lys) rs80357302
NM_007294.3(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967
NM_007294.3(BRCA1):c.4964C>T (p.Ser1655Phe) rs80357390
NM_007294.3(BRCA1):c.4985T>C (p.Phe1662Ser) rs28897695
NM_007294.3(BRCA1):c.4986+1G>A rs80358162
NM_007294.3(BRCA1):c.4986+3G>C rs80358023
NM_007294.3(BRCA1):c.4986+4A>C rs80358087
NM_007294.3(BRCA1):c.4986+4A>T rs80358087
NM_007294.3(BRCA1):c.4986+5G>A rs397509211
NM_007294.3(BRCA1):c.4987-11T>C rs80358170
NM_007294.3(BRCA1):c.4987-20A>G rs80358035
NM_007294.3(BRCA1):c.4988T>A (p.Met1663Lys) rs80357205
NM_007294.3(BRCA1):c.4991T>C (p.Leu1664Pro) rs80357314
NM_007294.3(BRCA1):c.4993G>A (p.Val1665Met) rs80357169
NM_007294.3(BRCA1):c.5014_5016CAC[1] (p.His1673del) rs80358343
NM_007294.3(BRCA1):c.5044G>A (p.Glu1682Lys) rs80356958
NM_007294.3(BRCA1):c.5053A>G (p.Thr1685Ala) rs80356890
NM_007294.3(BRCA1):c.5054C>T (p.Thr1685Ile) rs80357043
NM_007294.3(BRCA1):c.5059_5061GTT[1] (p.Val1688del) rs80358344
NM_007294.3(BRCA1):c.5066T>G (p.Met1689Arg) rs80357061
NM_007294.3(BRCA1):c.5072C>A (p.Thr1691Lys) rs80357034
NM_007294.3(BRCA1):c.5072C>T (p.Thr1691Ile) rs80357034
NM_007294.3(BRCA1):c.5074+1G>T rs80358053
NM_007294.3(BRCA1):c.5074+2T>C rs80358089
NM_007294.3(BRCA1):c.5074+6C>G rs80358032
NM_007294.3(BRCA1):c.5074G>A (p.Asp1692Asn) rs80187739
NM_007294.3(BRCA1):c.5074G>C (p.Asp1692His) rs80187739
NM_007294.3(BRCA1):c.5075-1G>A rs1800747
NM_007294.3(BRCA1):c.5075-53C>T rs8176258
NM_007294.3(BRCA1):c.5075-9A>T rs80358059
NM_007294.3(BRCA1):c.5078_5080del (p.Ala1693del) rs80358345
NM_007294.3(BRCA1):c.5089T>C (p.Cys1697Arg) rs80356993
NM_007294.3(BRCA1):c.508C>T (p.Arg170Trp) rs80357325
NM_007294.3(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459
NM_007294.3(BRCA1):c.509G>A (p.Arg170Gln) rs80357264
NM_007294.3(BRCA1):c.5113C>T (p.Leu1705=) rs80356858
NM_007294.3(BRCA1):c.5117G>A (p.Gly1706Glu) rs80356860
NM_007294.3(BRCA1):c.5117G>C (p.Gly1706Ala) rs80356860
NM_007294.3(BRCA1):c.5141T>G (p.Val1714Gly) rs80357243
NM_007294.3(BRCA1):c.5143A>C (p.Ser1715Arg) rs80357222
NM_007294.3(BRCA1):c.5143A>T (p.Ser1715Cys) rs80357222
NM_007294.3(BRCA1):c.5144G>A (p.Ser1715Asn) rs45444999
NM_007294.3(BRCA1):c.5145C>G (p.Ser1715Arg) rs80357094
NM_007294.3(BRCA1):c.5150del (p.Phe1717fs) rs80357720
NM_007294.3(BRCA1):c.5152+10A>G rs80358114
NM_007294.3(BRCA1):c.5152+1G>A rs80358094
NM_007294.3(BRCA1):c.5152+5G>A rs80358165
NM_007294.3(BRCA1):c.5152+6T>G rs80358074
NM_007294.3(BRCA1):c.5152+7A>G rs80358046
NM_007294.3(BRCA1):c.5152+85del rs8176259
NM_007294.3(BRCA1):c.5153-13A>G rs45471406
NM_007294.3(BRCA1):c.5153-1G>C rs80358137
NM_007294.3(BRCA1):c.5153-26A>G rs80358109
NM_007294.3(BRCA1):c.5153-6C>A rs80358129
NM_007294.3(BRCA1):c.5153G>C (p.Trp1718Ser) rs41293461
NM_007294.3(BRCA1):c.5154G>T (p.Trp1718Cys) rs80357239
NM_007294.3(BRCA1):c.5158A>G (p.Thr1720Ala) rs56195342
NM_007294.3(BRCA1):c.5164T>C (p.Ser1722Pro) rs483353100
NM_007294.3(BRCA1):c.5165C>T (p.Ser1722Phe) rs80357104
NM_007294.3(BRCA1):c.5176A>G (p.Arg1726Gly) rs80357501
NM_007294.3(BRCA1):c.5189A>G (p.Asn1730Ser) rs80357171
NM_007294.3(BRCA1):c.5193+3_5193+15del rs273901752
NM_007294.3(BRCA1):c.5194-12G>A rs80358079
NM_007294.3(BRCA1):c.5194-18G>T rs80358090
NM_007294.3(BRCA1):c.5194-2A>G rs80358069
NM_007294.3(BRCA1):c.5198A>G (p.Asp1733Gly) rs80357270
NM_007294.3(BRCA1):c.5207T>G (p.Val1736Gly) rs45553935
NM_007294.3(BRCA1):c.5212G>A (p.Gly1738Arg) rs80356937
NM_007294.3(BRCA1):c.5213G>A (p.Gly1738Glu) rs80357450
NM_007294.3(BRCA1):c.5216A>G (p.Asp1739Gly) rs80357227
NM_007294.3(BRCA1):c.5246C>G (p.Pro1749Arg) rs80357462
NM_007294.3(BRCA1):c.5252G>A (p.Arg1751Gln) rs80357442
NM_007294.3(BRCA1):c.5252G>C (p.Arg1751Pro) rs80357442
NM_007294.3(BRCA1):c.5254G>C (p.Ala1752Pro) rs80357074
NM_007294.3(BRCA1):c.5256A>C (p.Ala1752=) rs80356844
NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) rs80357906
NM_007294.3(BRCA1):c.5277+1del rs273901754
NM_007294.3(BRCA1):c.5277+78G>A rs80358107
NM_007294.3(BRCA1):c.5277G>A (p.Lys1759=) rs80356854
NM_007294.3(BRCA1):c.5278-14C>G rs80358105
NM_007294.3(BRCA1):c.5282T>C (p.Phe1761Ser) rs80356905
NM_007294.3(BRCA1):c.5291T>C (p.Leu1764Pro) rs80357281
NM_007294.3(BRCA1):c.5297T>G (p.Ile1766Ser) rs80357463
NM_007294.3(BRCA1):c.5317A>T (p.Thr1773Ser) rs80357324
NM_007294.3(BRCA1):c.5324T>G (p.Met1775Arg) rs41293463
NM_007294.3(BRCA1):c.5332+15G>C rs80358148
NM_007294.3(BRCA1):c.5332G>A (p.Asp1778Asn) rs80357112
NM_007294.3(BRCA1):c.5333-8C>T rs80358084
NM_007294.3(BRCA1):c.5333A>G (p.Asp1778Gly) rs80357041
NM_007294.3(BRCA1):c.5339T>C (p.Leu1780Pro) rs80357474
NM_007294.3(BRCA1):c.5347A>C (p.Met1783Leu) rs80357012
NM_007294.3(BRCA1):c.5348T>C (p.Met1783Thr) rs55808233
NM_007294.3(BRCA1):c.5357T>C (p.Leu1786Pro) rs398122697
NM_007294.3(BRCA1):c.5359T>A (p.Cys1787Ser) rs80357065
NM_007294.3(BRCA1):c.5363G>A (p.Gly1788Asp) rs80357069
NM_007294.3(BRCA1):c.5365G>T (p.Ala1789Ser) rs80357078
NM_007294.3(BRCA1):c.53T>C (p.Met18Thr) rs80356929
NM_007294.3(BRCA1):c.5406+53A>T rs273901766
NM_007294.3(BRCA1):c.5406+5G>A rs80358073
NM_007294.3(BRCA1):c.5406+5G>T rs80358073
NM_007294.3(BRCA1):c.5406+68T>C rs8176307
NM_007294.3(BRCA1):c.5406+8T>C rs55946644
NM_007294.3(BRCA1):c.5406+9T>C rs80358040
NM_007294.3(BRCA1):c.5407-1G>A rs80358029
NM_007294.3(BRCA1):c.5407-1G>C rs80358029
NM_007294.3(BRCA1):c.5407-21C>T rs273901768
NM_007294.3(BRCA1):c.5408G>C (p.Gly1803Ala) rs80357149
NM_007294.3(BRCA1):c.5411T>A (p.Val1804Asp) rs80356920
NM_007294.3(BRCA1):c.5416C>G (p.Pro1806Ala) rs80357241
NM_007294.3(BRCA1):c.5425G>T (p.Val1809Phe) rs28897698
NM_007294.3(BRCA1):c.5432A>G (p.Gln1811Arg) rs80357040
NM_007294.3(BRCA1):c.5434C>G (p.Pro1812Ala) rs1800751
NM_007294.3(BRCA1):c.5453A>G (p.Asp1818Gly) rs80357477
NM_007294.3(BRCA1):c.5464_5465insT (p.His1822fs) rs273902769
NM_007294.3(BRCA1):c.5467+1G>A rs80358145
NM_007294.3(BRCA1):c.5467+2T>C rs80358009
NM_007294.3(BRCA1):c.5467+8G>A rs80358062
NM_007294.3(BRCA1):c.5467+9C>T rs80358031
NM_007294.3(BRCA1):c.5468-10C>A rs8176316
NM_007294.3(BRCA1):c.5468-10_5468-9del rs273902770
NM_007294.3(BRCA1):c.5468-18T>A rs80358157
NM_007294.3(BRCA1):c.5468-1G>A rs80358048
NM_007294.3(BRCA1):c.547+146A>T rs8176140
NM_007294.3(BRCA1):c.547+14del rs273902771
NM_007294.3(BRCA1):c.547+1G>A rs80358030
NM_007294.3(BRCA1):c.547+1G>T rs80358030
NM_007294.3(BRCA1):c.548-12G>A rs80358164
NM_007294.3(BRCA1):c.548-13G>T rs80358115
NM_007294.3(BRCA1):c.548-16G>A rs80358171
NM_007294.3(BRCA1):c.548-3delT rs398122353
NM_007294.3(BRCA1):c.548-9delA rs273902774
NM_007294.3(BRCA1):c.5497G>A (p.Val1833Met) rs80357268
NM_007294.3(BRCA1):c.5506G>A (p.Glu1836Lys) rs80356942
NM_007294.3(BRCA1):c.5509T>C (p.Trp1837Arg) rs80356959
NM_007294.3(BRCA1):c.5509T>G (p.Trp1837Gly) rs80356959
NM_007294.3(BRCA1):c.5511G>T (p.Trp1837Cys) rs80356914
NM_007294.3(BRCA1):c.5513T>A (p.Val1838Glu) rs80357107
NM_007294.3(BRCA1):c.5521A>C (p.Ser1841Arg) rs80357299
NM_007294.3(BRCA1):c.5527G>C (p.Ala1843Pro) rs80357019
NM_007294.3(BRCA1):c.5532C>T (p.Leu1844=) rs80356829
NM_007294.3(BRCA1):c.5536C>T (p.Gln1846Ter) rs80356873
NM_007294.3(BRCA1):c.5538G>A (p.Gln1846=) rs80356849
NM_007294.3(BRCA1):c.5556C>G (p.Thr1852=) rs80356841
NM_007294.3(BRCA1):c.5558A>G (p.Tyr1853Cys) rs80357258
NM_007294.3(BRCA1):c.5566C>T (p.Pro1856Ser) rs80357274
NM_007294.3(BRCA1):c.5576C>G (p.Pro1859Arg) rs80357322
NM_007294.3(BRCA1):c.567T>C (p.Asp189=) rs80356845
NM_007294.3(BRCA1):c.572T>A (p.Val191Asp) rs80357142
NM_007294.3(BRCA1):c.593+3G>A rs80358013
NM_007294.3(BRCA1):c.593+4A>G rs80358154
NM_007294.3(BRCA1):c.593+9A>G rs80358133
NM_007294.3(BRCA1):c.594-15G>C rs80358102
NM_007294.3(BRCA1):c.594-20A>G rs80358017
NM_007294.3(BRCA1):c.594-2A>C rs80358033
NM_007294.3(BRCA1):c.594-4A>G rs80358081
NM_007294.3(BRCA1):c.612G>C (p.Leu204Phe) rs80357394
NM_007294.3(BRCA1):c.61A>G (p.Ile21Val) rs80357406
NM_007294.3(BRCA1):c.61del (p.Ile21fs) rs273902778
NM_007294.3(BRCA1):c.641A>G (p.Asp214Gly) rs55680408
NM_007294.3(BRCA1):c.655G>A (p.Asp219Asn) rs273902779
NM_007294.3(BRCA1):c.65T>C (p.Leu22Ser) rs80357438
NM_007294.3(BRCA1):c.661G>T (p.Ala221Ser) rs80357088
NM_007294.3(BRCA1):c.66_67AG[1] (p.Glu23fs) rs80357914
NM_007294.3(BRCA1):c.670+7G>A rs80358167
NM_007294.3(BRCA1):c.670+8C>T rs80358050
NM_007294.3(BRCA1):c.671-12del rs273902781
NM_007294.3(BRCA1):c.671-15T>A rs80358058
NM_007294.3(BRCA1):c.671-18_671-16del rs398122354
NM_007294.3(BRCA1):c.671-1G>T rs80358020
NM_007294.3(BRCA1):c.671-2A>C rs80358108
NM_007294.3(BRCA1):c.671-8A>G rs80358144
NM_007294.3(BRCA1):c.685del (p.Ser229fs) rs80357824
NM_007294.3(BRCA1):c.692C>T (p.Thr231Met) rs80357001
NM_007294.3(BRCA1):c.694G>A (p.Asp232Asn) rs55975699
NM_007294.3(BRCA1):c.70T>C (p.Cys24Arg) rs80357410
NM_007294.3(BRCA1):c.716A>G (p.His239Arg) rs80357396
NM_007294.3(BRCA1):c.754C>T (p.Arg252Cys) rs273902786
NM_007294.3(BRCA1):c.755G>A (p.Arg252His) rs80357138
NM_007294.3(BRCA1):c.795T>C (p.Ser265=) rs201441987
NM_007294.3(BRCA1):c.798_799del (p.Ser267fs) rs80357724
NM_007294.3(BRCA1):c.80+1G>T rs80358010
NM_007294.3(BRCA1):c.80+4A>T rs80358003
NM_007294.3(BRCA1):c.80+5G>A rs80358045
NM_007294.3(BRCA1):c.80+7C>T rs80358098
NM_007294.3(BRCA1):c.81-11del rs273902788
NM_007294.3(BRCA1):c.81-12C>G rs80358055
NM_007294.3(BRCA1):c.81-12del rs273902789
NM_007294.3(BRCA1):c.81-12dupC rs273902789
NM_007294.3(BRCA1):c.81-13C>G rs56328013
NM_007294.3(BRCA1):c.81-1G>A rs80358018
NM_007294.3(BRCA1):c.81-20C>T rs80358039
NM_007294.3(BRCA1):c.81-65G>C rs80358117
NM_007294.3(BRCA1):c.81-6T>C rs80358179
NM_007294.3(BRCA1):c.81-9C>G rs80358127
NM_007294.3(BRCA1):c.823G>A (p.Gly275Ser) rs8176153
NM_007294.3(BRCA1):c.827C>G (p.Thr276Arg) rs80357436
NM_007294.3(BRCA1):c.839C>G (p.Ala280Gly) rs80357199
NM_007294.3(BRCA1):c.889A>C (p.Met297Leu) rs80357196
NM_007294.3(BRCA1):c.891G>A (p.Met297Ile) rs80357103
NM_007294.3(BRCA1):c.93C>G (p.Ile31Met) rs80357000
NM_007294.3(BRCA1):c.946A>G (p.Ser316Gly) rs55874646
NM_007294.3(BRCA1):c.964G>A (p.Ala322Thr) rs80357252
NM_007294.3(BRCA1):c.964G>C (p.Ala322Pro) rs80357252
NM_007294.3(BRCA1):c.995G>A (p.Arg332Gln) rs80357464
NM_007294.3(BRCA1):c.996G>T (p.Arg332=) rs80356836
NM_007294.4(BRCA1):c.3714_3747del (p.Gln1240fs) rs886038023
NM_007294.4(BRCA1):c.4185+2_4185+22delinsA rs273900724
NM_007294.4(BRCA1):c.5277+1_5277+6del rs1060502356
NM_007297.4(BRCA1):c.-8+8224C>T rs80358006
NM_007297.4(BRCA1):c.-8+8294A>C rs80358064
NM_007297.4(BRCA1):c.407-58del rs8176144
NM_007299.4(BRCA1):c.*142C>G rs3092995
NM_007299.4(BRCA1):c.1018C>G (p.Arg340Gly) rs41293455
NM_007299.4(BRCA1):c.1048+17A>G rs80358180
NM_007299.4(BRCA1):c.1172+14A>G rs80358022
NM_007299.4(BRCA1):c.1324G>A (p.Asp442Asn) rs28897691
NM_007299.4(BRCA1):c.1370C>T (p.Thr457Ile) rs56158747
NM_007299.4(BRCA1):c.1826T>C (p.Val609Ala) rs80357132
NM_007299.4(BRCA1):c.1895T>C (p.Val632Ala) rs45553935
NM_007299.4(BRCA1):c.199G>T (p.Asp67Tyr) rs80357102
NM_007299.4(BRCA1):c.2021-1385A>T rs80358092
NM_007299.4(BRCA1):c.2070A>G (p.Gln690=) rs80357286
NM_007299.4(BRCA1):c.212+21G>A rs80358147
NM_007299.4(BRCA1):c.425C>A (p.Pro142His) rs55971303
NM_007299.4(BRCA1):c.427G>A (p.Glu143Lys) rs80356991
NM_007299.4(BRCA1):c.548-17G>T rs80358014
NM_007299.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530
NM_007299.4(BRCA1):c.571G>A (p.Val191Ile) rs80357090
NM_007299.4(BRCA1):c.75C>T (p.Pro25=) rs80356839
NM_007299.4(BRCA1):c.787+1322A>G rs4986844
NM_007299.4(BRCA1):c.787+1809C>T rs41286300
NM_007299.4(BRCA1):c.788-1830G>T rs80356874
NM_007299.4(BRCA1):c.788-899G>C rs56214134
NM_007299.4(BRCA1):c.81-13C>A rs56328013
NM_007299.4(BRCA1):c.876+30G>A rs80358139
NM_007300.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931
NM_007300.4(BRCA1):c.1648A>C (p.Asn550His) rs56012641
NM_007300.4(BRCA1):c.19C>T (p.Arg7Cys) rs80356994
NM_007300.4(BRCA1):c.2082C>T (p.Ser694=) rs1799949
NM_007300.4(BRCA1):c.2315T>C (p.Val772Ala) rs80357467
NM_007300.4(BRCA1):c.2351C>T (p.Ser784Leu) rs55914168
NM_007300.4(BRCA1):c.2447A>G (p.His816Arg) rs80357108
NM_007300.4(BRCA1):c.2566T>C (p.Tyr856His) rs80356892
NM_007300.4(BRCA1):c.2706_2707dup (p.Cys903fs) rs80357717
NM_007300.4(BRCA1):c.2733A>G (p.Gly911=) rs1800740
NM_007300.4(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704
NM_007300.4(BRCA1):c.3083G>A (p.Arg1028His) rs80357459
NM_007300.4(BRCA1):c.3296C>T (p.Pro1099Leu) rs80357201
NM_007300.4(BRCA1):c.3608G>A (p.Arg1203Gln) rs55930959
NM_007300.4(BRCA1):c.3823A>G (p.Ile1275Val) rs80357280
NM_007300.4(BRCA1):c.4754T>C (p.Leu1585Pro) rs56119278
NM_007300.4(BRCA1):c.4828C>T (p.Arg1610Cys) rs80357002
NM_007300.4(BRCA1):c.4875A>G (p.Gln1625=) rs28897693
NM_007300.4(BRCA1):c.4946T>C (p.Met1649Thr) rs4986854
NM_007300.4(BRCA1):c.5018T>C (p.Met1673Thr) rs80356968
NM_007300.4(BRCA1):c.5068G>T (p.Ala1690Ser) rs80357087
NM_007300.4(BRCA1):c.5137+3A>G rs80358181
NM_007300.4(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033
NM_007300.4(BRCA1):c.5373G>A (p.Gly1791=) rs273901761
NM_007300.4(BRCA1):c.5566C>T (p.Arg1856Ter) rs41293465
NM_007300.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675
NM_007300.4(BRCA1):c.811G>A (p.Val271Met) rs80357244
NM_007300.4(BRCA1):c.981A>G (p.Thr327=) rs1800063
Single allele

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