ClinVar Miner

Variants from Quest Diagnostics Nichols Institute San Juan Capistrano with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from Quest Diagnostics Nichols Institute San Juan Capistrano: Collection method of the submission from Quest Diagnostics Nichols Institute San Juan Capistrano:
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
3308 2294 65 1040 966 79 178 1889

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
Quest Diagnostics Nichols Institute San Juan Capistrano pathogenic likely pathogenic uncertain significance likely benign benign association drug response risk factor other
pathogenic 9 197 44 3 0 0 11 12 11
likely pathogenic 125 1 48 2 1 0 4 3 2
uncertain significance 37 44 40 565 127 1 2 4 23
likely benign 2 2 308 0 410 0 0 1 6
benign 5 3 120 426 15 0 0 1 0

Submitter to submitter summary #

Total submitters: 114
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
Invitae 0 2453 0 366 247 1 21 633
Color 0 1603 0 276 339 0 15 629
Ambry Genetics 0 2272 0 333 259 0 24 615
GeneDx 0 1952 0 382 178 1 19 578
Integrated Genetics/Laboratory Corporation of America 0 1188 8 189 214 0 19 428
Counsyl 0 1009 0 216 66 0 13 295
PreventionGenetics 0 338 0 161 37 0 1 198
Illumina Clinical Services Laboratory,Illumina 0 102 0 116 47 0 12 174
Sharing Clinical Reports Project (SCRP) 0 530 0 50 86 0 7 142
Quest Diagnostics Nichols Institute San Juan Capistrano 6977 385 0 118 10 0 1 129
True Health Diagnostics 0 118 0 99 11 1 1 112
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 230 0 63 32 0 7 101
OMIM 0 156 0 13 5 60 17 92
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 686 0 71 17 0 2 90
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 218 0 51 26 1 9 87
Department of Pathology and Laboratory Medicine,Sinai Health System 0 310 0 55 30 0 2 87
Breast Cancer Information Core (BIC) (BRCA2) 0 385 0 7 51 0 19 77
Biesecker Lab/Human Development Section,National Institutes of Health 0 6 42 5 21 0 0 65
Breast Cancer Information Core (BIC) (BRCA1) 0 281 0 4 36 0 17 57
Mendelics 0 329 0 19 28 0 9 56
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 0 129 7 29 17 0 3 56
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 125 0 33 15 0 4 52
Genetic Services Laboratory, University of Chicago 0 78 0 38 12 0 1 51
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 223 0 22 16 0 3 41
CeGaT Praxis fuer Humangenetik Tuebingen 0 27 0 14 7 0 5 26
CSER_CC_NCGL; University of Washington Medical Center 0 49 0 7 15 0 3 25
University of Washington Department of Laboratory Medicine,University of Washington 0 67 0 7 12 1 4 24
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 23 0 16 7 0 0 23
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 510 0 20 0 0 2 22
Robarts Research Institute,Western University 0 10 0 17 3 0 2 22
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 0 337 0 12 1 0 6 19
GeneKor MSA 0 149 0 10 6 1 1 18
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 92 0 11 6 0 1 18
GeneReviews 0 43 9 2 0 0 6 17
PharmGKB 0 0 0 0 0 17 0 17
Laboratory of Genetics and Molecular Cardiology,University of São Paulo 0 4 0 3 14 0 0 17
PALB2 database 0 29 0 7 4 0 3 14
Pathway Genomics 0 55 0 11 2 0 0 13
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 43 0 12 1 0 0 13
Michigan Medical Genetics Laboratories,University of Michigan 0 81 0 8 4 0 0 12
Cancer Genetics Laboratory,Peter MacCallum Cancer Centre 0 17 0 8 4 0 0 12
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 4 0 3 9 0 0 12
Fulgent Genetics 0 230 0 6 4 0 1 11
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 82 0 6 5 0 0 11
Baylor Miraca Genetics Laboratories, 0 44 0 10 0 0 0 10
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 33 0 9 1 0 0 10
Center for Human Genetics, Inc 0 16 0 2 7 0 0 9
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 68 0 3 3 0 3 9
Foulkes Cancer Genetics LDI,Lady Davis Institute for Medical Research 0 68 0 2 6 0 1 9
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, Inc. 0 43 0 0 6 0 2 8
ISCA site 1 0 9 1 1 4 0 2 8
ClinGen CDH1 Variant Curation Expert Panel 0 5 0 6 2 0 0 8
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 13 0 2 3 0 2 7
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency 0 29 0 1 6 0 0 7
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 36 0 3 2 0 1 6
Vantari Genetics 0 10 0 4 2 0 0 6
ARUP Institute,ARUP Laboratories 0 16 0 5 1 0 0 6
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 3 0 3 0 0 3 6
Fundacion Hipercolesterolemia Familiar 0 4 0 2 4 0 0 6
LDLR-LOVD, British Heart Foundation 0 4 0 5 0 0 0 5
Institute for Integrative and Experimental Genomics,University of Luebeck 0 0 0 4 0 0 1 5
Laboratory of Molecular Diagnosis of Cancer,West China Hospital, Sichuan University 0 23 0 1 4 0 0 5
Database of Curated Mutations (DoCM) 0 0 0 4 0 0 1 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 11 0 1 2 0 2 5
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 8 0 5 0 0 0 5
ClinGen PTEN Variant Curation Expert Panel 0 5 0 3 2 0 0 5
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne 0 50 0 5 0 0 0 5
HudsonAlpha Institute for Biotechnology 0 16 0 3 0 0 1 4
Cardiovascular Biomarker Research Laboratory,Mayo Clinic 0 0 0 3 1 0 0 4
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 5 0 1 3 0 0 4
Department of Medical Genetics,University Hospital of North Norway 0 4 0 3 1 0 0 4
Iberoamerican FH Network 0 3 0 2 2 0 0 4
3DMed Clinical Laboratory Inc 0 22 0 1 3 0 0 4
Clinical Genomics Lab,St. Jude Children's Research Hospital 0 14 0 1 3 0 0 4
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 11 0 1 1 0 1 3
CFTR2 0 38 0 2 0 0 1 3
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 56 0 2 0 1 0 3
Department of Medical Genetics,Oslo University Hospital 0 80 0 3 0 0 0 3
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 12 0 0 2 0 1 3
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 0 1 0 0 2 3
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 0 9 0 1 0 0 2 3
ClinGen PAH Variant Curation Expert Panel, 0 19 0 1 0 0 2 3
Cancer Variant Interpretation Group UK,Institute of Cancer Research, London 0 0 0 2 0 0 1 3
Division Human Genetics,Medical University Innsbruck 0 24 0 2 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 10 0 2 0 0 0 2
Dr. Peter K. Rogan Lab,Western University 0 0 0 0 1 0 1 2
U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille 0 3 0 2 0 0 0 2
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center 0 25 0 0 1 0 1 2
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 8 0 2 0 0 0 2
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation 0 2 0 2 0 0 0 2
Department of Pathology and Molecular Medicine,Queen's University 0 46 0 0 2 0 0 2
Johns Hopkins Genomics,Johns Hopkins University 0 2 0 2 0 0 0 2
Molecular Genetics Diagnostic Laboratory,Detroit Medical Center University Laboratories 0 0 0 1 0 0 0 1
Cancer Genomic Medicine Translational Research Lab,Cleveland Clinic Genomic Medicine Institute 0 3 0 0 1 0 0 1
Strand Center for Genomics and Personalized Medicine,Strand Life Sciences Pvt Ltd 0 0 0 1 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 0 0 0 0 1 1
Centre for Translational Omics - GOSgene,University College London 0 0 0 0 0 0 1 1
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 1 0 1 0 0 0 1
Centro de Genética y Biología Molecular,Universidad de San Martín de Porres 0 2 0 1 0 0 0 1
Molecular Oncology Laboratory,Centre Jean Perrin 0 0 0 0 0 1 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 1 0 0 0 1 0 1
Department of Medical Genetics,National Institute of Health 0 0 0 1 0 0 0 1
Clinical Molecular and Personalized Diagnostics,Institute of Biochemistry and Clinical Biochemistry, Teaching and Research Hospital Agostino Gemelli Foundation 0 0 0 1 0 0 0 1
Phosphorus, Inc. 0 0 0 1 0 0 0 1
Endocrine oncology group,Uppsala University 0 0 0 1 0 0 0 1
Molecular Oncology Laboratory,Hospital Clínico San Carlos 0 2 0 0 1 0 0 1
AlTemaimi Lab, Faculty of Medicine,Kuwait University 0 0 0 0 0 0 1 1
Yang An-Suei Laboratory,Academia Sinica 0 1 0 1 0 0 0 1
Snyder Lab, Genetics Department,Stanford University 0 1 0 0 0 1 0 1
Laboratory of Molecular Neuropathology,The University of Texas Health Science Center at Houston 0 0 0 0 0 0 1 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 0 0 0 0 1 1
Cancer Diagnostics Division,Gene Solutions 0 0 0 1 0 0 0 1
Clinical Cancer Genetics and Family Consultants,Athens Medical Center 0 0 0 0 0 0 1 1
Lab. Molecular Oncology,VUB, Free University of Brussels 0 2 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 1889
Download table as spreadsheet
HGVS dbSNP
GRCh37/hg19 13q12.12(chr13:23519916-24936848)x1
GRCh37/hg19 15q26.3(chr15:100614375-100911698)x1
GRCh37/hg19 16p11.2(chr16:28819028-29051191)x3
GRCh37/hg19 16p11.2(chr16:29580020-30191848)x3
GRCh37/hg19 16p12.2(chr16:21801889-22431357)x3
GRCh37/hg19 16p12.3(chr16:19144340-19281768)x1
GRCh37/hg19 16p13.11-12.3(chr16:15316618-18185466)x3
GRCh37/hg19 16p13.3(chr16:6294808-6394422)x1
GRCh37/hg19 18q22.1(chr18:65687087-66530088)x4
GRCh37/hg19 22q11.21(chr22:20716876-21465662)x1
GRCh37/hg19 2p21(chr2:45408934-45976420)x3
GRCh37/hg19 2q21.1(chr2:131477947-131956516)x1
GRCh37/hg19 2q34(chr2:213969855-214925262)x3
GRCh37/hg19 4q32.3(chr4:164801123-165481802)x3
GRCh37/hg19 6q14.2-14.3(chr6:84373742-85044270)x3
GRCh37/hg19 Xp11.3(chrX:43396992-43626868)x2
NM_000016.5(ACADM):c.1161A>G (p.Val387=) rs1061337
NM_000016.5(ACADM):c.199T>C (p.Tyr67His) rs121434280
NM_000016.5(ACADM):c.443G>A (p.Arg148Lys) rs778906552
NM_000016.5(ACADM):c.489T>G (p.Pro163=) rs78392995
NM_000016.5(ACADM):c.616C>T (p.Arg206Cys) rs373715782
NM_000016.5(ACADM):c.678A>G (p.Ala226=) rs2229249
NM_000016.5(ACADM):c.799G>A (p.Gly267Arg) rs121434274
NM_000038.5(APC):c.120G>A (p.Glu40=) rs142720069
NM_000038.5(APC):c.1240C>T (p.Arg414Cys) rs137854567
NM_000038.5(APC):c.1419G>A (p.Gln473=) rs141579422
NM_000038.5(APC):c.1488A>T (p.Thr496=) rs9282599
NM_000038.5(APC):c.1495C>G (p.Arg499Gly) rs137854580
NM_000038.5(APC):c.1604C>T (p.Ser535Phe) rs75870842
NM_000038.5(APC):c.1626+1G>A rs1554081934
NM_000038.5(APC):c.1631T>C (p.Ile544Thr) rs144056494
NM_000038.5(APC):c.1958G>A (p.Arg653Lys) rs1060503318
NM_000038.5(APC):c.2094A>G (p.Leu698=) rs1426881729
NM_000038.5(APC):c.220+2T>A rs587781809
NM_000038.5(APC):c.2205G>A (p.Ala735=) rs141001261
NM_000038.5(APC):c.2262T>G (p.Val754=) rs148987776
NM_000038.5(APC):c.2593C>T (p.Pro865Ser) rs192620988
NM_000038.5(APC):c.277C>G (p.Leu93Val) rs201567345
NM_000038.5(APC):c.2805C>T (p.Tyr935=) rs137854575
NM_000038.5(APC):c.288T>A (p.Tyr96Ter) rs376213437
NM_000038.5(APC):c.295C>T (p.Arg99Trp) rs139196838
NM_000038.5(APC):c.298delG (p.Glu100Lysfs) rs1064794224
NM_000038.5(APC):c.3006C>T (p.Ala1002=) rs72541810
NM_000038.5(APC):c.3173A>G (p.Asp1058Gly) rs148725540
NM_000038.5(APC):c.317G>A (p.Arg106His) rs201764637
NM_000038.5(APC):c.3249T>G (p.Asp1083Glu) rs201629780
NM_000038.5(APC):c.3264G>A (p.Lys1088=) rs114774495
NM_000038.5(APC):c.3352A>G (p.Asn1118Asp) rs140493115
NM_000038.5(APC):c.3378C>G (p.Ser1126Arg) rs149353082
NM_000038.5(APC):c.3468_3470delAGA (p.Glu1157del) rs386833391
NM_000038.5(APC):c.3479C>A (p.Thr1160Lys) rs201004111
NM_000038.5(APC):c.3511C>T (p.Arg1171Cys) rs201830995
NM_000038.5(APC):c.3632T>G (p.Met1211Arg) rs575268622
NM_000038.5(APC):c.3786T>C (p.Tyr1262=) rs147411334
NM_000038.5(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000038.5(APC):c.3927_3931delAAAGA (p.Glu1309Aspfs) rs121913224
NM_000038.5(APC):c.3949G>C (p.Glu1317Gln) rs1801166
NM_000038.5(APC):c.3963C>T (p.Ser1321=) rs150595875
NM_000038.5(APC):c.4413A>G (p.Ala1471=) rs964029262
NM_000038.5(APC):c.4420G>A (p.Ala1474Thr) rs139387758
NM_000038.5(APC):c.450A>G (p.Lys150=) rs116020626
NM_000038.5(APC):c.4533C>T (p.Leu1511=) rs150089434
NM_000038.5(APC):c.4765C>T (p.Arg1589Cys) rs72541813
NM_000038.5(APC):c.4893T>C (p.Ser1631=) rs35634377
NM_000038.5(APC):c.4905G>A (p.Gly1635=) rs137988845
NM_000038.5(APC):c.5025T>G (p.Val1675=) rs876658169
NM_000038.5(APC):c.5140G>A (p.Asp1714Asn) rs148275069
NM_000038.5(APC):c.5250C>G (p.Val1750=) rs2229997
NM_000038.5(APC):c.5268T>A (p.Ser1756=) rs866006
NM_000038.5(APC):c.5274T>A (p.Ser1758=) rs199600387
NM_000038.5(APC):c.5363G>A (p.Arg1788His) rs201472075
NM_000038.5(APC):c.5392A>G (p.Asn1798Asp) rs200794097
NM_000038.5(APC):c.5635G>T (p.Ala1879Ser) rs587779799
NM_000038.5(APC):c.5708A>G (p.Asn1903Ser) rs750404000
NM_000038.5(APC):c.573T>C (p.Tyr191=) rs185154886
NM_000038.5(APC):c.5790A>G (p.Gln1930=) rs141152252
NM_000038.5(APC):c.5801C>T (p.Pro1934Leu) rs587780600
NM_000038.5(APC):c.5912C>G (p.Ser1971Cys) rs754691867
NM_000038.5(APC):c.6059_6062delGTTT (p.Cys2020Serfs) rs876660174
NM_000038.5(APC):c.607C>G (p.Gln203Glu) rs141576417
NM_000038.5(APC):c.6387G>A (p.Ser2129=) rs374310157
NM_000038.5(APC):c.6510A>C (p.Pro2170=) rs138571760
NM_000038.5(APC):c.6510delA (p.Glu2172Argfs) rs1554087474
NM_000038.5(APC):c.6525A>G (p.Thr2175=) rs200151646
NM_000038.5(APC):c.6526T>C (p.Leu2176=) rs183468041
NM_000038.5(APC):c.6609T>C (p.Val2203=) rs149328018
NM_000038.5(APC):c.6610C>T (p.Arg2204Ter) rs752654519
NM_000038.5(APC):c.6669A>G (p.Ser2223=) rs372680843
NM_000038.5(APC):c.6679G>T (p.Gly2227Cys) rs367905430
NM_000038.5(APC):c.6724A>G (p.Ser2242Gly) rs201375478
NM_000038.5(APC):c.6750C>T (p.Gly2250=) rs555799753
NM_000038.5(APC):c.6821C>T (p.Ala2274Val) rs34919187
NM_000038.5(APC):c.6873A>T (p.Gln2291His) rs148878262
NM_000038.5(APC):c.7036C>T (p.Pro2346Ser) rs200756935
NM_000038.5(APC):c.7395T>C (p.Leu2465=) rs369906346
NM_000038.5(APC):c.7415C>T (p.Ala2472Val) rs200399245
NM_000038.5(APC):c.7477_7478delCT (p.Leu2493Ilefs) rs1554088391
NM_000038.5(APC):c.7514G>A (p.Arg2505Gln) rs147549623
NM_000038.5(APC):c.7533C>T (p.Leu2511=) rs1057522957
NM_000038.5(APC):c.756C>T (p.Thr252=) rs771535363
NM_000038.5(APC):c.7625A>G (p.Asn2542Ser) rs151163793
NM_000038.5(APC):c.7645C>T (p.Arg2549Cys) rs199539353
NM_000038.5(APC):c.7717A>G (p.Ile2573Val) rs145444830
NM_000038.5(APC):c.7766A>G (p.Glu2589Gly) rs200406572
NM_000038.5(APC):c.777G>T (p.Arg259=) rs147704593
NM_000038.5(APC):c.7786T>G (p.Ser2596Ala) rs138137162
NM_000038.5(APC):c.7821C>T (p.Ser2607=) rs532235331
NM_000038.5(APC):c.7878T>G (p.Thr2626=) rs757020188
NM_000038.5(APC):c.8043G>C (p.Pro2681=) rs149347068
NM_000038.5(APC):c.8068G>A (p.Ala2690Thr) rs140868933
NM_000038.5(APC):c.8141G>A (p.Arg2714His) rs747362422
NM_000038.5(APC):c.8325G>A (p.Gly2775=) rs770719841
NM_000038.5(APC):c.8389A>G (p.Ser2797Gly) rs147287751
NM_000038.5(APC):c.95A>G (p.Asn32Ser) rs539108537
NM_000050.4(ASS1):c.571G>A (p.Glu191Lys) rs777828000
NM_000059.3(BRCA2):c.-39-2A>G rs1555280053
NM_000059.3(BRCA2):c.-41G>A rs879255312
NM_000059.3(BRCA2):c.-51C>T rs1057521841
NM_000059.3(BRCA2):c.-9T>C rs276174802
NM_000059.3(BRCA2):c.10045A>G (p.Thr3349Ala) rs80358387
NM_000059.3(BRCA2):c.10089A>G (p.Ile3363Met) rs80358390
NM_000059.3(BRCA2):c.10095delCinsGAATTATATCT (p.Ser3366Asnfs) rs276174803
NM_000059.3(BRCA2):c.10111A>G (p.Thr3371Ala) rs80358393
NM_000059.3(BRCA2):c.1011C>T (p.Asn337=) rs41293473
NM_000059.3(BRCA2):c.10202C>T (p.Thr3401Met) rs55853199
NM_000059.3(BRCA2):c.10203G>A (p.Thr3401=) rs147854265
NM_000059.3(BRCA2):c.1021T>C (p.Cys341Arg) rs55833327
NM_000059.3(BRCA2):c.10222A>T (p.Lys3408Ter) rs80358402
NM_000059.3(BRCA2):c.1040A>C (p.Gln347Pro) rs55800493
NM_000059.3(BRCA2):c.1040A>G (p.Gln347Arg) rs55800493
NM_000059.3(BRCA2):c.1096T>G (p.Leu366Val) rs587779357
NM_000059.3(BRCA2):c.1141G>A (p.Asp381Asn) rs398122723
NM_000059.3(BRCA2):c.1166C>A (p.Pro389Gln) rs397507263
NM_000059.3(BRCA2):c.1166C>T (p.Pro389Leu) rs397507263
NM_000059.3(BRCA2):c.1167G>A (p.Pro389=) rs148607710
NM_000059.3(BRCA2):c.1181A>C (p.Glu394Ala) rs56016241
NM_000059.3(BRCA2):c.1296_1297delGA (p.Asn433Glnfs) rs80359276
NM_000059.3(BRCA2):c.136C>T (p.Pro46Ser) rs80358425
NM_000059.3(BRCA2):c.1427C>G (p.Ser476Cys) rs80358431
NM_000059.3(BRCA2):c.1441A>G (p.Ile481Val) rs760559435
NM_000059.3(BRCA2):c.145G>T (p.Glu49Ter) rs80358435
NM_000059.3(BRCA2):c.1478C>T (p.Pro493Leu) rs786202916
NM_000059.3(BRCA2):c.1568A>G (p.His523Arg) rs80358443
NM_000059.3(BRCA2):c.1659A>G (p.Leu553=) rs786201343
NM_000059.3(BRCA2):c.1666A>G (p.Asn556Asp) rs587781794
NM_000059.3(BRCA2):c.167A>C (p.Asn56Thr) rs80358454
NM_000059.3(BRCA2):c.1744A>C (p.Thr582Pro) rs80358457
NM_000059.3(BRCA2):c.175C>G (p.Pro59Ala) rs56091799
NM_000059.3(BRCA2):c.1769T>G (p.Phe590Cys) rs80358459
NM_000059.3(BRCA2):c.1818G>A (p.Pro606=) rs76844014
NM_000059.3(BRCA2):c.1838T>G (p.Leu613Arg) rs587780646
NM_000059.3(BRCA2):c.1865C>T (p.Ala622Val) rs80358477
NM_000059.3(BRCA2):c.1909+1G>A rs587781629
NM_000059.3(BRCA2):c.1910-1G>T
NM_000059.3(BRCA2):c.1911T>C (p.Gly637=) rs11571652
NM_000059.3(BRCA2):c.2004G>A (p.Arg668=) rs755049218
NM_000059.3(BRCA2):c.2094A>G (p.Leu698=) rs28897714
NM_000059.3(BRCA2):c.2109C>T (p.Thr703=) rs762499878
NM_000059.3(BRCA2):c.2138A>T (p.Gln713Leu) rs55816687
NM_000059.3(BRCA2):c.2145A>G (p.Gly715=) rs112566179
NM_000059.3(BRCA2):c.2211A>G (p.Ala737=) rs587780647
NM_000059.3(BRCA2):c.2251dupA (p.Thr751Asnfs) rs886040416
NM_000059.3(BRCA2):c.229A>G (p.Thr77Ala) rs80358500
NM_000059.3(BRCA2):c.2332G>A (p.Val778Ile) rs587779360
NM_000059.3(BRCA2):c.2412A>G (p.Glu804=) rs587780866
NM_000059.3(BRCA2):c.2416G>C (p.Asp806His) rs56404215
NM_000059.3(BRCA2):c.2484T>C (p.Tyr828=) rs45619134
NM_000059.3(BRCA2):c.2524G>C (p.Val842Leu) rs587782454
NM_000059.3(BRCA2):c.2550A>G (p.Gln850=) rs80359785
NM_000059.3(BRCA2):c.2679A>G (p.Gln893=) rs786203640
NM_000059.3(BRCA2):c.267G>A (p.Pro89=) rs587780648
NM_000059.3(BRCA2):c.2739C>T (p.Asp913=) rs276174829
NM_000059.3(BRCA2):c.2743_2747delACTTG (p.Thr915Cysfs) rs786204752
NM_000059.3(BRCA2):c.2803G>C (p.Asp935His) rs28897716
NM_000059.3(BRCA2):c.280C>T (p.Pro94Ser) rs80358531
NM_000059.3(BRCA2):c.2813C>A (p.Ala938Glu) rs55773834
NM_000059.3(BRCA2):c.2817C>T (p.Thr939=) rs367921107
NM_000059.3(BRCA2):c.2860G>T (p.Glu954Ter) rs1555282911
NM_000059.3(BRCA2):c.2918C>T (p.Ser973Leu) rs397507296
NM_000059.3(BRCA2):c.2926_2927delTCinsAT (p.Ser976Ile) rs276174831
NM_000059.3(BRCA2):c.2944A>C (p.Ile982Leu) rs28897717
NM_000059.3(BRCA2):c.2946A>G (p.Ile982Met) rs80358541
NM_000059.3(BRCA2):c.2999T>C (p.Ile1000Thr) rs374769365
NM_000059.3(BRCA2):c.3054G>A (p.Lys1018=) rs368404583
NM_000059.3(BRCA2):c.316+5G>A rs81002840
NM_000059.3(BRCA2):c.316+5G>C rs81002840
NM_000059.3(BRCA2):c.3167_3170delAAAA (p.Gln1056Argfs) rs80359372
NM_000059.3(BRCA2):c.3174dup (p.Leu1059Thrfs) rs1555283079
NM_000059.3(BRCA2):c.322A>C (p.Asn108His) rs80358567
NM_000059.3(BRCA2):c.3256A>G (p.Ile1086Val) rs80358571
NM_000059.3(BRCA2):c.3264dupT (p.Gln1089Serfs) rs80359380
NM_000059.3(BRCA2):c.3299A>T (p.Asn1100Ile) rs80358575
NM_000059.3(BRCA2):c.3302A>G (p.His1101Arg) rs398122761
NM_000059.3(BRCA2):c.3304A>T (p.Asn1102Tyr) rs28897719
NM_000059.3(BRCA2):c.3326C>T (p.Ala1109Val) rs41293479
NM_000059.3(BRCA2):c.3336delA (p.Glu1113Asnfs) rs398122763
NM_000059.3(BRCA2):c.3376G>T (p.Glu1126Ter) rs1555283206
NM_000059.3(BRCA2):c.3445A>G (p.Met1149Val) rs80358589
NM_000059.3(BRCA2):c.3458A>G (p.Lys1153Arg) rs80358594
NM_000059.3(BRCA2):c.3509C>T (p.Ala1170Val) rs80358599
NM_000059.3(BRCA2):c.353G>A (p.Arg118His) rs80358603
NM_000059.3(BRCA2):c.3545_3546delTT (p.Phe1182Terfs) rs80359388
NM_000059.3(BRCA2):c.3568C>T (p.Arg1190Trp) rs80358604
NM_000059.3(BRCA2):c.3575T>G (p.Phe1192Cys) rs80358606
NM_000059.3(BRCA2):c.3672C>T (p.Gly1224=) rs587780650
NM_000059.3(BRCA2):c.3675A>G (p.Thr1225=) rs276174835
NM_000059.3(BRCA2):c.3714G>A (p.Val1238=) rs780000105
NM_000059.3(BRCA2):c.3723delT (p.Phe1241Leufs) rs886040491
NM_000059.3(BRCA2):c.3749A>G (p.Glu1250Gly) rs56400215
NM_000059.3(BRCA2):c.3858_3860delAAA (p.Lys1286del) rs80359406
NM_000059.3(BRCA2):c.3864_3866delTAA (p.Asn1288del) rs276174837
NM_000059.3(BRCA2):c.3883C>T (p.Gln1295Ter) rs879255309
NM_000059.3(BRCA2):c.3967A>T (p.Lys1323Ter) rs80358648
NM_000059.3(BRCA2):c.4007_4008insCATC (p.Asp1337Ilefs) rs878853577
NM_000059.3(BRCA2):c.4037_4043delCTGTTTGinsT (p.Thr1346_Cys1348delinsIle) rs276174841
NM_000059.3(BRCA2):c.4037delC (p.Thr1346Metfs) rs1162394508
NM_000059.3(BRCA2):c.4046T>C (p.Ile1349Thr) rs80358654
NM_000059.3(BRCA2):c.4062G>A (p.Thr1354=) rs768735660
NM_000059.3(BRCA2):c.4110C>T (p.Gly1370=) rs758430181
NM_000059.3(BRCA2):c.4127_4130delGAAA (p.Gly1376Alafs) rs397507323
NM_000059.3(BRCA2):c.4269T>C (p.Thr1423=) rs786201377
NM_000059.3(BRCA2):c.4284dupT (p.Gln1429Serfs) rs80359439
NM_000059.3(BRCA2):c.4301A>T (p.Lys1434Ile) rs397507714
NM_000059.3(BRCA2):c.4314C>T (p.Val1438=) rs730881590
NM_000059.3(BRCA2):c.4316C>A (p.Ala1439Asp) rs80358667
NM_000059.3(BRCA2):c.4320A>G (p.Lys1440=) rs769535925
NM_000059.3(BRCA2):c.4376delA (p.Asn1459Thrfs) rs1555283752
NM_000059.3(BRCA2):c.440A>G (p.Gln147Arg) rs80358674
NM_000059.3(BRCA2):c.4464_4465delCA (p.His1488Glnfs) rs397507720
NM_000059.3(BRCA2):c.4478_4481delAAAG (p.Glu1493Valfs) rs80359454
NM_000059.3(BRCA2):c.4535G>A (p.Arg1512His) rs80358685
NM_000059.3(BRCA2):c.4544dup (p.Ile1516Aspfs) rs397507725
NM_000059.3(BRCA2):c.4552delG (p.Glu1518Asnfs) rs398122783
NM_000059.3(BRCA2):c.4588A>T (p.Lys1530Ter) rs80358692
NM_000059.3(BRCA2):c.4599A>C (p.Lys1533Asn) rs80358694
NM_000059.3(BRCA2):c.4614T>C (p.Ser1538=) rs45520945
NM_000059.3(BRCA2):c.4656T>C (p.Gly1552=) rs41293491
NM_000059.3(BRCA2):c.4670C>G (p.Thr1557Ser) rs80358698
NM_000059.3(BRCA2):c.467A>G (p.Asp156Gly) rs68071147
NM_000059.3(BRCA2):c.4698C>T (p.Thr1566=) rs750813972
NM_000059.3(BRCA2):c.4707C>A (p.Tyr1569Ter) rs878853585
NM_000059.3(BRCA2):c.4718G>A (p.Cys1573Tyr) rs56249050
NM_000059.3(BRCA2):c.4749delT (p.Ile1583Metfs) rs1555283928
NM_000059.3(BRCA2):c.475+1G>T rs81002797
NM_000059.3(BRCA2):c.4791T>C (p.Ser1597=) rs786201728
NM_000059.3(BRCA2):c.4977C>T (p.Ser1659=) rs45484897
NM_000059.3(BRCA2):c.4987G>C (p.Val1663Leu) rs587781763
NM_000059.3(BRCA2):c.5020A>G (p.Ser1674Gly) rs80358725
NM_000059.3(BRCA2):c.5035delA (p.Thr1679Leufs) rs80359477
NM_000059.3(BRCA2):c.506A>G (p.Lys169Arg) rs80358730
NM_000059.3(BRCA2):c.5144T>C (p.Leu1715Ser) rs1064793634
NM_000059.3(BRCA2):c.5169T>C (p.Thr1723=) rs1555284091
NM_000059.3(BRCA2):c.517-2A>G rs81002858
NM_000059.3(BRCA2):c.517-4C>G rs81002804
NM_000059.3(BRCA2):c.5170A>G (p.Ile1724Val) rs35335654
NM_000059.3(BRCA2):c.5171T>C (p.Ile1724Thr) rs80358743
NM_000059.3(BRCA2):c.5201_5205delAAAAAinsGAAAAG (p.Glu1734Glyfs) rs483353082
NM_000059.3(BRCA2):c.5268A>G (p.Val1756=) rs199879914
NM_000059.3(BRCA2):c.5289C>T (p.Leu1763=) rs763052573
NM_000059.3(BRCA2):c.5331_5333delGAA (p.Lys1777del) rs398122529
NM_000059.3(BRCA2):c.53G>A (p.Arg18His) rs80358762
NM_000059.3(BRCA2):c.5414A>G (p.Asn1805Ser) rs80358765
NM_000059.3(BRCA2):c.5474C>T (p.Ala1825Val) rs397507352
NM_000059.3(BRCA2):c.5495C>A (p.Ser1832Tyr) rs138489917
NM_000059.3(BRCA2):c.5498A>G (p.Asn1833Ser) rs587782601
NM_000059.3(BRCA2):c.5529A>C (p.Ala1843=) rs372951842
NM_000059.3(BRCA2):c.5536A>G (p.Ile1846Val) rs587782375
NM_000059.3(BRCA2):c.5542delA (p.Ser1848Valfs) rs80359519
NM_000059.3(BRCA2):c.5554G>A (p.Val1852Ile) rs80358777
NM_000059.3(BRCA2):c.5612G>A (p.Ser1871Asn) rs80358782
NM_000059.3(BRCA2):c.5616_5620delAGTAA (p.Lys1872Asnfs) rs80359525
NM_000059.3(BRCA2):c.5631delC (p.Asn1877Lysfs) rs397507357
NM_000059.3(BRCA2):c.5634C>G (p.Asn1878Lys) rs80358784
NM_000059.3(BRCA2):c.5634C>T (p.Asn1878=) rs80358784
NM_000059.3(BRCA2):c.5635G>A (p.Glu1879Lys) rs55996097
NM_000059.3(BRCA2):c.5683G>A (p.Glu1895Lys) rs146351301
NM_000059.3(BRCA2):c.5700A>G (p.Ser1900=) rs730881591
NM_000059.3(BRCA2):c.5710C>G (p.Leu1904Val) rs55875643
NM_000059.3(BRCA2):c.5715dupT (p.Asn1906Terfs) rs587782901
NM_000059.3(BRCA2):c.5737T>G (p.Cys1913Gly) rs80358799
NM_000059.3(BRCA2):c.5752C>T (p.His1918Tyr) rs80358803
NM_000059.3(BRCA2):c.5753A>G (p.His1918Arg) rs80358804
NM_000059.3(BRCA2):c.575T>C (p.Met192Thr) rs80358805
NM_000059.3(BRCA2):c.5793A>G (p.Gln1931=) rs371682489
NM_000059.3(BRCA2):c.5851_5854delAGTT (p.Ser1951Trpfs) rs80359543
NM_000059.3(BRCA2):c.5864C>A (p.Ser1955Ter) rs80358815
NM_000059.3(BRCA2):c.5879G>A (p.Cys1960Tyr) rs56157628
NM_000059.3(BRCA2):c.5893C>T (p.Leu1965Phe) rs398122542
NM_000059.3(BRCA2):c.5897A>G (p.His1966Arg) rs80358823
NM_000059.3(BRCA2):c.5928G>T (p.Gly1976=) rs752858082
NM_000059.3(BRCA2):c.5946delT (p.Ser1982Argfs) rs80359550
NM_000059.3(BRCA2):c.5970T>C (p.Asp1990=) rs1064794160
NM_000059.3(BRCA2):c.5976A>G (p.Ser1992=) rs748854546
NM_000059.3(BRCA2):c.5985C>T (p.Asn1995=) rs374620036
NM_000059.3(BRCA2):c.5988A>G (p.Ala1996=) rs773045221
NM_000059.3(BRCA2):c.6017G>C (p.Ser2006Thr) rs144784912
NM_000059.3(BRCA2):c.6037A>T (p.Lys2013Ter) rs80358840
NM_000059.3(BRCA2):c.606C>T (p.Pro202=) rs747726394
NM_000059.3(BRCA2):c.6131G>C (p.Gly2044Ala) rs56191579
NM_000059.3(BRCA2):c.6143A>T (p.Asn2048Ile) rs80358853
NM_000059.3(BRCA2):c.6172T>A (p.Phe2058Ile) rs80358857
NM_000059.3(BRCA2):c.6273T>A (p.Ser2091Arg) rs966360777
NM_000059.3(BRCA2):c.627C>A (p.Leu209=) rs28897704
NM_000059.3(BRCA2):c.6290C>T (p.Thr2097Met) rs80358866
NM_000059.3(BRCA2):c.6293C>T (p.Ser2098Phe) rs80358867
NM_000059.3(BRCA2):c.6304G>A (p.Val2102Ile) rs80358869
NM_000059.3(BRCA2):c.631G>C (p.Val211Leu) rs80358871
NM_000059.3(BRCA2):c.632-3C>G rs568027879
NM_000059.3(BRCA2):c.6373_6374delACinsG (p.Thr2125Alafs) rs1555284655
NM_000059.3(BRCA2):c.63A>G (p.Lys21=) rs1280004443
NM_000059.3(BRCA2):c.6443C>A (p.Ser2148Tyr) rs80358880
NM_000059.3(BRCA2):c.6455C>A (p.Ser2152Tyr) rs80358881
NM_000059.3(BRCA2):c.6474dup (p.Gln2159Serfs) rs1555284710
NM_000059.3(BRCA2):c.6475C>G (p.Gln2159Glu) rs398122558
NM_000059.3(BRCA2):c.6502G>T (p.Gly2168Ter) rs886040660
NM_000059.3(BRCA2):c.6513G>T (p.Val2171=) rs206076
NM_000059.3(BRCA2):c.6531T>A (p.Ile2177=) rs587780658
NM_000059.3(BRCA2):c.6541G>C (p.Gly2181Arg) rs371067421
NM_000059.3(BRCA2):c.6560C>T (p.Pro2187Leu) rs56019712
NM_000059.3(BRCA2):c.658_659delGT (p.Val220Ilefs) rs80359604
NM_000059.3(BRCA2):c.6613G>A (p.Val2205Met) rs80358889
NM_000059.3(BRCA2):c.6633T>C (p.Val2211=) rs80359795
NM_000059.3(BRCA2):c.663T>G (p.Phe221Leu) rs80358891
NM_000059.3(BRCA2):c.6665A>G (p.Tyr2222Cys) rs397507875
NM_000059.3(BRCA2):c.6675A>G (p.Thr2225=) rs28897741
NM_000059.3(BRCA2):c.67+1G>C rs81002796
NM_000059.3(BRCA2):c.6713A>G (p.Asp2238Gly) rs80358895
NM_000059.3(BRCA2):c.6761T>A (p.Phe2254Tyr) rs786202915
NM_000059.3(BRCA2):c.6771C>T (p.Pro2257=) rs373696964
NM_000059.3(BRCA2):c.6803G>A (p.Arg2268Lys) rs80358906
NM_000059.3(BRCA2):c.682-1G>C rs81002831
NM_000059.3(BRCA2):c.6871A>G (p.Asn2291Asp) rs80358911
NM_000059.3(BRCA2):c.68_316del249 (p.Asp23_Leu105del) rs1555280328
NM_000059.3(BRCA2):c.6921A>G (p.Ser2307=) rs181183366
NM_000059.3(BRCA2):c.6935A>T (p.Asp2312Val) rs80358916
NM_000059.3(BRCA2):c.6937+594T>G rs191253965
NM_000059.3(BRCA2):c.6943A>C (p.Ile2315Leu) rs80358918
NM_000059.3(BRCA2):c.6944_6947delTAAA (p.Ile2315Lysfs) rs80359629
NM_000059.3(BRCA2):c.695A>G (p.Tyr232Cys) rs372188754
NM_000059.3(BRCA2):c.6980delT (p.Leu2327Terfs) rs879255306
NM_000059.3(BRCA2):c.6986C>T (p.Pro2329Leu) rs80358925
NM_000059.3(BRCA2):c.7007G>T (p.Arg2336Leu) rs28897743
NM_000059.3(BRCA2):c.7010C>T (p.Thr2337Ile) rs80358927
NM_000059.3(BRCA2):c.7024C>T (p.Gln2342Ter) rs80358928
NM_000059.3(BRCA2):c.7051G>A (p.Ala2351Thr) rs80358930
NM_000059.3(BRCA2):c.7052C>G (p.Ala2351Gly) rs80358932
NM_000059.3(BRCA2):c.708T>C (p.His236=) rs185506536
NM_000059.3(BRCA2):c.7097dupT (p.Thr2367Aspfs) rs786202600
NM_000059.3(BRCA2):c.7137A>G (p.Gly2379=) rs730881593
NM_000059.3(BRCA2):c.7185C>T (p.His2395=) rs730881580
NM_000059.3(BRCA2):c.7188G>A (p.Leu2396=) rs587780871
NM_000059.3(BRCA2):c.7188G>T (p.Leu2396Phe) rs587780871
NM_000059.3(BRCA2):c.7232A>C (p.Lys2411Thr) rs80358950
NM_000059.3(BRCA2):c.7239A>G (p.Lys2413=) rs763727386
NM_000059.3(BRCA2):c.7241C>G (p.Ser2414Ter) rs80358951
NM_000059.3(BRCA2):c.7278T>A (p.Ile2426=) rs372377916
NM_000059.3(BRCA2):c.7311T>A (p.Ile2437=) rs1131692103
NM_000059.3(BRCA2):c.7313A>G (p.Asp2438Gly) rs80358957
NM_000059.3(BRCA2):c.7317A>G (p.Gly2439=) rs587780660
NM_000059.3(BRCA2):c.7413A>G (p.Thr2471=) rs138067005
NM_000059.3(BRCA2):c.742G>A (p.Ala248Thr) rs55854959
NM_000059.3(BRCA2):c.7435+6G>A rs81002852
NM_000059.3(BRCA2):c.7436-4A>G rs81002904
NM_000059.3(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624
NM_000059.3(BRCA2):c.750G>A (p.Val250=) rs143214959
NM_000059.3(BRCA2):c.7521A>G (p.Pro2507=) rs759383358
NM_000059.3(BRCA2):c.7525dup (p.Ser2509Lysfs) rs80359656
NM_000059.3(BRCA2):c.7534C>T (p.Leu2512Phe) rs80358980
NM_000059.3(BRCA2):c.7596C>T (p.Pro2532=) rs748631472
NM_000059.3(BRCA2):c.7601C>T (p.Ala2534Val) rs74047012
NM_000059.3(BRCA2):c.7625C>T (p.Thr2542Met) rs80358989
NM_000059.3(BRCA2):c.7637C>T (p.Ser2546Phe) rs398122586
NM_000059.3(BRCA2):c.7651A>C (p.Lys2551Gln) rs398122587
NM_000059.3(BRCA2):c.7712A>G (p.Glu2571Gly) rs55689095
NM_000059.3(BRCA2):c.771_775delTCAAA (p.Asn257Lysfs) rs80359671
NM_000059.3(BRCA2):c.7805+8A>G rs81002847
NM_000059.3(BRCA2):c.7806-2A>G rs81002836
NM_000059.3(BRCA2):c.7868A>G (p.His2623Arg) rs80359012
NM_000059.3(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013
NM_000059.3(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014
NM_000059.3(BRCA2):c.7916C>T (p.Pro2639Leu) rs774723315
NM_000059.3(BRCA2):c.7935A>G (p.Arg2645=) rs1283509388
NM_000059.3(BRCA2):c.7958T>C (p.Leu2653Pro) rs80359022
NM_000059.3(BRCA2):c.7958_7959dup (p.Leu2654Phefs)
NM_000059.3(BRCA2):c.7976+5G>A rs786201180
NM_000059.3(BRCA2):c.7976G>A (p.Arg2659Lys) rs80359027
NM_000059.3(BRCA2):c.7985C>A (p.Thr2662Lys) rs431825362
NM_000059.3(BRCA2):c.8009C>T (p.Ser2670Leu) rs80359035
NM_000059.3(BRCA2):c.800G>A (p.Gly267Glu) rs80359036
NM_000059.3(BRCA2):c.8010G>A (p.Ser2670=) rs146430937
NM_000059.3(BRCA2):c.8027T>C (p.Met2676Thr) rs80359038
NM_000059.3(BRCA2):c.8036A>G (p.Asp2679Gly) rs80359041
NM_000059.3(BRCA2):c.8061T>C (p.Val2687=) rs776992904
NM_000059.3(BRCA2):c.8063T>C (p.Leu2688Pro) rs80359045
NM_000059.3(BRCA2):c.807A>G (p.Thr269=) rs142072914
NM_000059.3(BRCA2):c.8090G>A (p.Ser2697Asn) rs80359051
NM_000059.3(BRCA2):c.8091C>T (p.Ser2697=) rs140782158
NM_000059.3(BRCA2):c.8092G>A (p.Ala2698Thr) rs80359052
NM_000059.3(BRCA2):c.8113A>G (p.Ser2705Gly) rs756105620
NM_000059.3(BRCA2):c.8117A>G (p.Asn2706Ser) rs80359055
NM_000059.3(BRCA2):c.811G>A (p.Gly271Arg) rs786204274
NM_000059.3(BRCA2):c.8154T>C (p.Ile2718=) rs148880015
NM_000059.3(BRCA2):c.8165C>G (p.Thr2722Arg) rs80359062
NM_000059.3(BRCA2):c.8167G>C (p.Asp2723His) rs41293511
NM_000059.3(BRCA2):c.8168A>G (p.Asp2723Gly) rs41293513
NM_000059.3(BRCA2):c.8188G>C (p.Ala2730Pro) rs80359066
NM_000059.3(BRCA2):c.81_83delAAGinsTAAGACT (p.Ser28Lysfs) rs879255300
NM_000059.3(BRCA2):c.8215G>A (p.Val2739Ile) rs80359069
NM_000059.3(BRCA2):c.8229_8243del15 (p.Arg2744_Gly2748del) rs80359698
NM_000059.3(BRCA2):c.8243G>A (p.Gly2748Asp) rs80359071
NM_000059.3(BRCA2):c.8298A>G (p.Thr2766=) rs730881594
NM_000059.3(BRCA2):c.8332-6G>T rs587780872
NM_000059.3(BRCA2):c.8351G>A (p.Arg2784Gln) rs80359076
NM_000059.3(BRCA2):c.8359C>T (p.Arg2787Cys) rs41293517
NM_000059.3(BRCA2):c.8377G>A (p.Gly2793Arg) rs80359082
NM_000059.3(BRCA2):c.8386C>T (p.Pro2796Ser) rs146120136
NM_000059.3(BRCA2):c.841G>A (p.Asp281Asn) rs80359088
NM_000059.3(BRCA2):c.8421G>A (p.Ser2807=) rs371278843
NM_000059.3(BRCA2):c.8442T>C (p.Asn2814=) rs1131692106
NM_000059.3(BRCA2):c.8487+8G>A rs81002838
NM_000059.3(BRCA2):c.8488-1G>A rs397507404
NM_000059.3(BRCA2):c.8499G>A (p.Lys2833=) rs558819788
NM_000059.3(BRCA2):c.8501delC (p.Thr2834Asnfs) rs80359712
NM_000059.3(BRCA2):c.8524C>T (p.Arg2842Cys) rs80359104
NM_000059.3(BRCA2):c.8573A>G (p.Gln2858Arg) rs80359114
NM_000059.3(BRCA2):c.8633-1G>A rs398122711
NM_000059.3(BRCA2):c.8723T>G (p.Val2908Gly) rs28897753
NM_000059.3(BRCA2):c.8724delG (p.Lys2909Argfs) rs1555288172
NM_000059.3(BRCA2):c.8754+1G>T rs397508006
NM_000059.3(BRCA2):c.8754+4A>G rs81002893
NM_000059.3(BRCA2):c.8755-9T>C rs397507413
NM_000059.3(BRCA2):c.8756G>T (p.Gly2919Val) rs80359131
NM_000059.3(BRCA2):c.8807T>C (p.Leu2936Ser) rs398122714
NM_000059.3(BRCA2):c.8850G>A (p.Lys2950=) rs28897754
NM_000059.3(BRCA2):c.8854A>G (p.Met2952Val) rs397508016
NM_000059.3(BRCA2):c.889G>T (p.Glu297Ter) rs879255298
NM_000059.3(BRCA2):c.8918G>A (p.Arg2973His) rs80359143
NM_000059.3(BRCA2):c.8924delT (p.Val2975Glufs) rs397508020
NM_000059.3(BRCA2):c.8941G>A (p.Glu2981Lys) rs139052578
NM_000059.3(BRCA2):c.8948_8953+5delATTCAGGTAAG rs276174915
NM_000059.3(BRCA2):c.9004G>A (p.Glu3002Lys) rs80359152
NM_000059.3(BRCA2):c.9006A>T (p.Glu3002Asp) rs80359153
NM_000059.3(BRCA2):c.9082G>C (p.Ala3028Pro) rs80359161
NM_000059.3(BRCA2):c.9085G>A (p.Ala3029Thr) rs56179254
NM_000059.3(BRCA2):c.9087G>A (p.Ala3029=) rs368576266
NM_000059.3(BRCA2):c.90T>C (p.Asn30=) rs760655471
NM_000059.3(BRCA2):c.9116C>T (p.Pro3039Leu) rs80359167
NM_000059.3(BRCA2):c.9117+9C>T rs81002869
NM_000059.3(BRCA2):c.9119T>C (p.Val3040Ala) rs587781606
NM_000059.3(BRCA2):c.9154C>T (p.Arg3052Trp) rs45580035
NM_000059.3(BRCA2):c.9155G>A (p.Arg3052Gln) rs80359171
NM_000059.3(BRCA2):c.9222A>G (p.Leu3074=) rs200635661
NM_000059.3(BRCA2):c.9227G>A (p.Gly3076Glu) rs80359187
NM_000059.3(BRCA2):c.9234C>T (p.Val3078=) rs587782428
NM_000059.3(BRCA2):c.9235delG (p.Val3079Phefs) rs397507422
NM_000059.3(BRCA2):c.9253dupA (p.Thr3085Asnfs) rs80359752
NM_000059.3(BRCA2):c.9256+2T>C rs1555288591
NM_000059.3(BRCA2):c.9257-1G>C rs81002889
NM_000059.3(BRCA2):c.9257-8C>T rs11571819
NM_000059.3(BRCA2):c.9285C>G (p.Asp3095Glu) rs80359198
NM_000059.3(BRCA2):c.9285C>T (p.Asp3095=) rs80359198
NM_000059.3(BRCA2):c.9353T>C (p.Met3118Thr) rs56204128
NM_000059.3(BRCA2):c.9364G>A (p.Ala3122Thr) rs587782313
NM_000059.3(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759
NM_000059.3(BRCA2):c.9396A>G (p.Lys3132=) rs201172050
NM_000059.3(BRCA2):c.943T>A (p.Cys315Ser) rs79483201
NM_000059.3(BRCA2):c.9442G>T (p.Ala3148Ser) rs949790323
NM_000059.3(BRCA2):c.9468A>G (p.Gln3156=) rs753503094
NM_000059.3(BRCA2):c.9493A>G (p.Thr3165Ala) rs587782568
NM_000059.3(BRCA2):c.9501+3A>T rs61757642
NM_000059.3(BRCA2):c.9502-2A>C rs81002868
NM_000059.3(BRCA2):c.9509A>G (p.Asp3170Gly) rs80359224
NM_000059.3(BRCA2):c.9531A>G (p.Glu3177=) rs1555289774
NM_000059.3(BRCA2):c.956A>C (p.Asn319Thr) rs55939572
NM_000059.3(BRCA2):c.9581C>A (p.Pro3194Gln) rs28897760
NM_000059.3(BRCA2):c.9583A>G (p.Thr3195Ala) rs80359227
NM_000059.3(BRCA2):c.9586A>G (p.Lys3196Glu) rs80359228
NM_000059.3(BRCA2):c.9592T>C (p.Cys3198Arg) rs80359229
NM_000059.3(BRCA2):c.9606G>A (p.Pro3202=) rs755890067
NM_000059.3(BRCA2):c.9606G>C (p.Pro3202=) rs755890067
NM_000059.3(BRCA2):c.9649-9T>G rs765352313
NM_000059.3(BRCA2):c.9677A>G (p.Tyr3226Cys) rs80359237
NM_000059.3(BRCA2):c.971G>A (p.Arg324Lys) rs397507435
NM_000059.3(BRCA2):c.9720T>C (p.Val3240=) rs80359810
NM_000059.3(BRCA2):c.9728C>T (p.Pro3243Leu) rs80359241
NM_000059.3(BRCA2):c.9837A>G (p.Leu3279=) rs730881598
NM_000059.3(BRCA2):c.9864A>G (p.Thr3288=) rs778401681
NM_000059.3(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817
NM_000059.3(BRCA2):c.9905G>A (p.Arg3302Lys) rs80359249
NM_000059.3(BRCA2):c.9925G>A (p.Glu3309Lys) rs80359251
NM_000059.3(BRCA2):c.9952A>C (p.Asn3318His) rs80359256
NM_000059.3(BRCA2):c.9986A>G (p.Asn3329Ser) rs76635144
NM_000059.3:c.6884_6888del
NM_000075.3(CDK4):c.122A>G (p.Asn41Ser) rs144890720
NM_000075.3(CDK4):c.306A>G (p.Thr102=) rs201202764
NM_000075.3(CDK4):c.522+8G>A rs758294834
NM_000075.3(CDK4):c.549C>T (p.Pro183=) rs778696237
NM_000075.3(CDK4):c.625C>T (p.Arg209Cys) rs140644696
NM_000075.3(CDK4):c.660C>T (p.Ala220=) rs773490152
NM_000075.3(CDK4):c.661G>A (p.Asp221Asn) rs587778187
NM_000075.3(CDK4):c.779T>A (p.Val260Glu) rs200215596
NM_000075.3(CDK4):c.813G>A (p.Leu271=) rs1487727732
NM_000075.3(CDK4):c.834T>C (p.Phe278=) rs115576923
NM_000077.4(CDKN2A):c.-19413C>G rs528789830
NM_000077.4(CDKN2A):c.-19436C>T rs374360796
NM_000077.4(CDKN2A):c.-25C>T rs144481587
NM_000077.4(CDKN2A):c.-2G>A rs191394143
NM_000077.4(CDKN2A):c.-34G>C rs1800586
NM_000077.4(CDKN2A):c.159G>C (p.Met53Ile) rs104894095
NM_000077.4(CDKN2A):c.167G>T (p.Ser56Ile) rs104894109
NM_000077.4(CDKN2A):c.170C>T (p.Ala57Val) rs372266620
NM_000077.4(CDKN2A):c.174A>C (p.Arg58=) rs201208890
NM_000077.4(CDKN2A):c.273G>A (p.Leu91=) rs4987127
NM_000077.4(CDKN2A):c.301G>T (p.Gly101Trp) rs104894094
NM_000077.4(CDKN2A):c.318G>A (p.Val106=) rs199888003
NM_000077.4(CDKN2A):c.369T>A (p.His123Gln) rs6413463
NM_000077.4(CDKN2A):c.373G>C (p.Asp125His) rs146179135
NM_000077.4(CDKN2A):c.379G>T (p.Ala127Ser) rs6413464
NM_000077.4(CDKN2A):c.384G>A (p.Arg128=) rs199901898
NM_000077.4(CDKN2A):c.430C>T (p.Arg144Cys) rs116150891
NM_000077.4(CDKN2A):c.442G>A (p.Ala148Thr) rs3731249
NM_000077.4(CDKN2A):c.51C>A (p.Ala17=) rs764362225
NM_000179.2(MSH6):c.*17G>A rs876661000
NM_000179.2(MSH6):c.*85T>A rs2020906
NM_000179.2(MSH6):c.-2G>T rs374748889
NM_000179.2(MSH6):c.-8C>T rs565211544
NM_000179.2(MSH6):c.102C>A (p.Ala34=) rs201132087
NM_000179.2(MSH6):c.1037C>T (p.Ser346Phe) rs567785169
NM_000179.2(MSH6):c.1050C>T (p.Ala350=) rs730881802
NM_000179.2(MSH6):c.105C>T (p.Ala35=) rs998365223
NM_000179.2(MSH6):c.107C>T (p.Ala36Val) rs61756469
NM_000179.2(MSH6):c.1081C>T (p.Arg361Cys) rs587782651
NM_000179.2(MSH6):c.1167C>T (p.Pro389=) rs1042819
NM_000179.2(MSH6):c.1168_1170delGATinsAA (p.Asp390Asnfs) rs863225398
NM_000179.2(MSH6):c.1449G>T (p.Val483=) rs35590297
NM_000179.2(MSH6):c.1483C>T (p.Arg495Ter) rs587779212
NM_000179.2(MSH6):c.1509C>T (p.Ser503=) rs545020313
NM_000179.2(MSH6):c.1526T>C (p.Val509Ala) rs63751005
NM_000179.2(MSH6):c.1610_1613delAGTA (p.Lys537Ilefs) rs771764652
NM_000179.2(MSH6):c.161G>C (p.Gly54Ala) rs63751098
NM_000179.2(MSH6):c.1634_1635delAA (p.Lys545Argfs) rs267608064
NM_000179.2(MSH6):c.1665A>G (p.Ala555=) rs146785465
NM_000179.2(MSH6):c.1691C>A (p.Ser564Ter) rs864622153
NM_000179.2(MSH6):c.1776A>T (p.Val592=) rs56132616
NM_000179.2(MSH6):c.178T>C (p.Leu60=) rs35819209
NM_000179.2(MSH6):c.1867C>G (p.Pro623Ala) rs3136334
NM_000179.2(MSH6):c.1869C>T (p.Pro623=) rs141242295
NM_000179.2(MSH6):c.1870G>A (p.Gly624Ser) rs868760377
NM_000179.2(MSH6):c.1875C>T (p.Ser625=) rs63749886
NM_000179.2(MSH6):c.187T>C (p.Ser63Pro) rs763702846
NM_000179.2(MSH6):c.2006T>C (p.Ile669Thr) rs555209664
NM_000179.2(MSH6):c.2057G>A (p.Gly686Asp) rs587779227
NM_000179.2(MSH6):c.2300C>T (p.Thr767Ile) rs587781462
NM_000179.2(MSH6):c.2319C>T (p.Leu773=) rs63749895
NM_000179.2(MSH6):c.2384T>C (p.Ile795Thr) rs202127474
NM_000179.2(MSH6):c.2667G>T (p.Gln889His) rs149945495
NM_000179.2(MSH6):c.2724A>G (p.Glu908=) rs35389622
NM_000179.2(MSH6):c.2780T>C (p.Ile927Thr) rs587779926
NM_000179.2(MSH6):c.2904C>G (p.Val968=) rs150683226
NM_000179.2(MSH6):c.2925C>T (p.Asn975=) rs139026662
NM_000179.2(MSH6):c.2927G>A (p.Arg976His) rs63751113
NM_000179.2(MSH6):c.2940A>G (p.Glu980=) rs730881818
NM_000179.2(MSH6):c.3024C>T (p.Thr1008=) rs587780675
NM_000179.2(MSH6):c.3037_3041delAAGAA (p.Lys1013Valfs) rs587782712
NM_000179.2(MSH6):c.3160A>T (p.Ile1054Phe) rs267608075
NM_000179.2(MSH6):c.3162C>T (p.Ile1054=) rs149605979
NM_000179.2(MSH6):c.3203G>A (p.Arg1068Gln) rs398123230
NM_000179.2(MSH6):c.3226C>G (p.Arg1076Gly) rs63750617
NM_000179.2(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617
NM_000179.2(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000179.2(MSH6):c.3259C>T (p.Pro1087Ser) rs63750998
NM_000179.2(MSH6):c.3260C>G (p.Pro1087Arg) rs63750753
NM_000179.2(MSH6):c.3261dupC (p.Phe1088Leufs) rs267608078
NM_000179.2(MSH6):c.3264C>T (p.Phe1088=) rs35621414
NM_000179.2(MSH6):c.3265T>C (p.Leu1089=) rs34490141
NM_000179.2(MSH6):c.3300G>A (p.Thr1100=) rs540252208
NM_000179.2(MSH6):c.3334G>A (p.Asp1112Asn) rs773955368
NM_000179.2(MSH6):c.3384T>C (p.Tyr1128=) rs544518097
NM_000179.2(MSH6):c.3439-1G>T rs587779263
NM_000179.2(MSH6):c.3439-2A>G rs267608098
NM_000179.2(MSH6):c.3478G>A (p.Val1160Ile) rs376799914
NM_000179.2(MSH6):c.3488A>T (p.Glu1163Val) rs63750252
NM_000179.2(MSH6):c.3557-3A>T rs41295274
NM_000179.2(MSH6):c.3647-6T>A rs182871847
NM_000179.2(MSH6):c.3675G>A (p.Thr1225=) rs730881820
NM_000179.2(MSH6):c.3716_3717delTA (p.Ile1239Lysfs) rs1064794384
NM_000179.2(MSH6):c.3798_3801+9delTATGGTATGTGCA rs1553333168
NM_000179.2(MSH6):c.3850dup (p.Thr1284Asnfs) rs1553333421
NM_000179.2(MSH6):c.3851C>T (p.Thr1284Met) rs63750836
NM_000179.2(MSH6):c.3878_3881dupCTTG (p.Pro1295Leufs) rs1553333500
NM_000179.2(MSH6):c.3879T>C (p.Ala1293=) rs752369374
NM_000179.2(MSH6):c.393A>C (p.Val131=) rs752488540
NM_000179.2(MSH6):c.3986C>T (p.Ser1329Leu) rs199594809
NM_000179.2(MSH6):c.3991C>T (p.Arg1331Ter) rs267608094
NM_000179.2(MSH6):c.4001+2_4001+5delTAAC rs267608132
NM_000179.2(MSH6):c.4001+4_4001+8dupACTAA rs587782853
NM_000179.2(MSH6):c.4002-10T>A rs545466048
NM_000179.2(MSH6):c.4068_4071dupGATT (p.Lys1358Aspfs) rs55740729
NM_000179.2(MSH6):c.431G>T (p.Ser144Ile) rs3211299
NM_000179.2(MSH6):c.491A>C (p.His164Pro) rs146469162
NM_000179.2(MSH6):c.503C>G (p.Ala168Gly) rs774162322
NM_000179.2(MSH6):c.615A>G (p.Glu205=) rs1334827373
NM_000179.2(MSH6):c.628-7C>A rs373129248
NM_000179.2(MSH6):c.663A>C (p.Glu221Asp) rs41557217
NM_000179.2(MSH6):c.741dupA (p.Arg248Thrfs) rs267608041
NM_000179.2(MSH6):c.884A>G (p.Lys295Arg) rs267608051
NM_000179.2(MSH6):c.926C>G (p.Ser309Cys) rs544222338
NM_000179.2(MSH6):c.956C>T (p.Thr319Met) rs188252826
NM_000179.2(MSH6):c.984C>T (p.Ser328=) rs138143769
NM_000179.2(MSH6):c.998C>T (p.Thr333Ile) rs587781983
NM_000249.3(MLH1):c.*35_*37delCTT rs193922366
NM_000249.3(MLH1):c.-8G>T rs761672073
NM_000249.3(MLH1):c.1013A>G (p.Asn338Ser) rs63751467
NM_000249.3(MLH1):c.1038G>A (p.Gln346=) rs63751715
NM_000249.3(MLH1):c.1039-10_1039-8dupTTT rs57509953
NM_000249.3(MLH1):c.1040C>A (p.Thr347Asn) rs201541505
NM_000249.3(MLH1):c.1050A>G (p.Pro350=) rs137937003
NM_000249.3(MLH1):c.1128T>C (p.Asp376=) rs267607824
NM_000249.3(MLH1):c.1136A>G (p.Tyr379Cys) rs143009528
NM_000249.3(MLH1):c.1269G>A (p.Arg423=) rs373076967
NM_000249.3(MLH1):c.1270G>A (p.Ala424Thr) rs377433038
NM_000249.3(MLH1):c.1321G>A (p.Ala441Thr) rs63750365
NM_000249.3(MLH1):c.1360G>C (p.Gly454Arg) rs63750527
NM_000249.3(MLH1):c.1379A>C (p.Glu460Ala) rs202038499
NM_000249.3(MLH1):c.1420C>G (p.Arg474Gly) rs147939838
NM_000249.3(MLH1):c.1517T>C (p.Val506Ala) rs63749909
NM_000249.3(MLH1):c.1558+4C>T rs531873434
NM_000249.3(MLH1):c.1637A>G (p.Lys546Arg) rs587779954
NM_000249.3(MLH1):c.1757C>A (p.Ala586Asp) rs63750587
NM_000249.3(MLH1):c.1808C>G (p.Pro603Arg) rs63750876
NM_000249.3(MLH1):c.1820T>A (p.Leu607His) rs41295284
NM_000249.3(MLH1):c.1852_1853delAAinsGC (p.Lys618Ala) rs35502531
NM_000249.3(MLH1):c.1853A>G (p.Lys618Arg) rs63750449
NM_000249.3(MLH1):c.191A>G (p.Asn64Ser) rs63750952
NM_000249.3(MLH1):c.1937A>G (p.Tyr646Cys) rs35045067
NM_000249.3(MLH1):c.1963A>G (p.Ile655Val) rs55907433
NM_000249.3(MLH1):c.1976G>A (p.Arg659Gln) rs63749900
NM_000249.3(MLH1):c.1989G>A (p.Glu663=) rs63751662
NM_000249.3(MLH1):c.1989G>T (p.Glu663Asp) rs63751662
NM_000249.3(MLH1):c.198C>T (p.Thr66=) rs61751642
NM_000249.3(MLH1):c.2035G>T (p.Glu679Ter) rs587778971
NM_000249.3(MLH1):c.2059C>T (p.Arg687Trp) rs63751275
NM_000249.3(MLH1):c.2066A>G (p.Gln689Arg) rs63750702
NM_000249.3(MLH1):c.2070_2071insTT (p.Ile691Leufs) rs876659681
NM_000249.3(MLH1):c.2101C>A (p.Gln701Lys) rs63750114
NM_000249.3(MLH1):c.2103+3A>G rs587778976
NM_000249.3(MLH1):c.2174G>A (p.Arg725His) rs566928243
NM_000249.3(MLH1):c.2246T>C (p.Leu749Pro) rs267607894
NM_000249.3(MLH1):c.2252A>G (p.Lys751Arg) rs140195825
NM_000249.3(MLH1):c.24T>A (p.Ile8=) rs748406142
NM_000249.3(MLH1):c.283delT (p.Ser95Leufs) rs1064795441
NM_000249.3(MLH1):c.303T>G (p.Gly101=) rs4647220
NM_000249.3(MLH1):c.34dup (p.Asp12Glyfs) rs1553637196
NM_000249.3(MLH1):c.375A>G (p.Ala125=) rs1800144
NM_000249.3(MLH1):c.381-1G>A rs267607744
NM_000249.3(MLH1):c.394G>C (p.Asp132His) rs28930073
NM_000249.3(MLH1):c.404dup (p.Lys136Glufs) rs1553642079
NM_000249.3(MLH1):c.438A>G (p.Gln146=) rs377279035
NM_000249.3(MLH1):c.52C>T (p.Arg18Cys) rs367654552
NM_000249.3(MLH1):c.626A>G (p.Asn209Ser) rs150478207
NM_000249.3(MLH1):c.649C>T (p.Arg217Cys) rs4986984
NM_000249.3(MLH1):c.69A>G (p.Glu23=) rs63750555
NM_000249.3(MLH1):c.808A>G (p.Thr270Ala) rs371302926
NM_000249.3(MLH1):c.843A>C (p.Ala281=) rs146796765
NM_000249.3(MLH1):c.882C>T (p.Leu294=) rs63751707
NM_000249.3(MLH1):c.885-5G>T rs267607802
NM_000249.3(MLH1):c.91_92delGCinsTG (p.Ala31Cys) rs63749994
NM_000249.3(MLH1):c.955G>A (p.Glu319Lys) rs63750796
NM_000249.3(MLH1):c.974G>A (p.Arg325Gln) rs63750268
NM_000249.3(MLH1):c.977T>C (p.Val326Ala) rs63751049
NM_000251.2(MSH2):c.-185C>A rs188036046
NM_000251.2(MSH2):c.-68-5G>A rs552303079
NM_000251.2(MSH2):c.-9G>C rs547444746
NM_000251.2(MSH2):c.1046C>T (p.Pro349Leu) rs587779067
NM_000251.2(MSH2):c.1255C>A (p.Gln419Lys) rs63750006
NM_000251.2(MSH2):c.1275A>G (p.Glu425=) rs63751650
NM_000251.2(MSH2):c.1276+2T>C rs267607953
NM_000251.2(MSH2):c.1277-8T>C rs145400590
NM_000251.2(MSH2):c.1294T>C (p.Leu432=) rs937218360
NM_000251.2(MSH2):c.132G>A (p.Thr44=) rs766856128
NM_000251.2(MSH2):c.1387-4G>C rs376796243
NM_000251.2(MSH2):c.1462T>G (p.Leu488Val) rs587781314
NM_000251.2(MSH2):c.1488A>G (p.Leu496=) rs267607960
NM_000251.2(MSH2):c.1571G>C (p.Arg524Pro) rs63751207
NM_000251.2(MSH2):c.159C>T (p.Ala53=) rs780178752
NM_000251.2(MSH2):c.1680T>C (p.Asn560=) rs200056411
NM_000251.2(MSH2):c.1690A>G (p.Thr564Ala) rs55778204
NM_000251.2(MSH2):c.1730T>C (p.Ile577Thr) rs63749910
NM_000251.2(MSH2):c.1748A>G (p.Asn583Ser) rs201118107
NM_000251.2(MSH2):c.1865C>G (p.Pro622Arg) rs28929483
NM_000251.2(MSH2):c.1873T>C (p.Leu625=) rs63750669
NM_000251.2(MSH2):c.1886A>G (p.Gln629Arg) rs61756468
NM_000251.2(MSH2):c.1A>C (p.Met1Leu) rs267607911
NM_000251.2(MSH2):c.2013T>A (p.Asn671Lys) rs587779127
NM_000251.2(MSH2):c.2043A>G (p.Gln681=) rs730881763
NM_000251.2(MSH2):c.211+8C>T rs267607916
NM_000251.2(MSH2):c.2205C>T (p.Ile735=) rs533553381
NM_000251.2(MSH2):c.2211-6C>A rs267608003
NM_000251.2(MSH2):c.2271C>T (p.Tyr757=) rs56076152
NM_000251.2(MSH2):c.2308A>G (p.Ile770Val) rs63750684
NM_000251.2(MSH2):c.2458+1G>A rs267608010
NM_000251.2(MSH2):c.2500G>A (p.Ala834Thr) rs63750757
NM_000251.2(MSH2):c.2503A>C (p.Asn835His) rs41295296
NM_000251.2(MSH2):c.2785C>T (p.Arg929Ter) rs551060742
NM_000251.2(MSH2):c.279_281delTCT (p.Leu94del) rs267607919
NM_000251.2(MSH2):c.2802G>A (p.Thr934=) rs150259097
NM_000251.2(MSH2):c.336C>A (p.Ser112=) rs34312619
NM_000251.2(MSH2):c.366+1G>T rs267607924
NM_000251.2(MSH2):c.409G>C (p.Gly137Arg) rs587781795
NM_000251.2(MSH2):c.435T>G (p.Ile145Met) rs63750124
NM_000251.2(MSH2):c.505A>G (p.Ile169Val) rs63750716
NM_000251.2(MSH2):c.557A>G (p.Asn186Ser) rs151129360
NM_000251.2(MSH2):c.55T>C (p.Phe19Leu) rs141711342
NM_000251.2(MSH2):c.573C>T (p.Leu191=) rs1800151
NM_000251.2(MSH2):c.645+2T>G rs876658996
NM_000251.2(MSH2):c.67T>C (p.Phe23Leu) rs372619120
NM_000251.2(MSH2):c.762T>C (p.Asn254=) rs587779180
NM_000251.2(MSH2):c.766G>A (p.Ala256Thr) rs377403073
NM_000251.2(MSH2):c.815C>T (p.Ala272Val) rs34136999
NM_000251.2(MSH2):c.819A>G (p.Val273=) rs146577635
NM_000251.2(MSH2):c.913G>A (p.Ala305Thr) rs63751454
NM_000251.2(MSH2):c.944G>T (p.Gly315Val) rs202026056
NM_000277.1(PAH):c.*19G>T rs372637021
NM_000277.1(PAH):c.1089delG (p.Lys363Asnfs) rs5030654
NM_000277.1(PAH):c.204A>T (p.Arg68Ser) rs76394784
NM_000277.2(PAH):c.165delT (p.Phe55Leufs) rs199475566
NM_000277.2(PAH):c.284_286delTCA (p.Ile95del) rs62508727
NM_000277.2(PAH):c.442-18G>A rs149538764
NM_000277.2(PAH):c.694C>T (p.Gln232Ter) rs62507348
NM_000277.3(PAH):c.1065+3A>G rs62508689
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937
NM_000277.3(PAH):c.1242C>T (p.Tyr414=) rs1801152
NM_000277.3(PAH):c.1243G>A (p.Asp415Asn) rs62644499
NM_000277.3(PAH):c.1278T>C (p.Asn426=) rs59326968
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849
NM_000277.3(PAH):c.842+4A>G rs1555204434
NM_000314.4(PTEN):c.1104T>C (p.Asp368=) rs35979531
NM_000314.4(PTEN):c.367C>T (p.His123Tyr) rs786204931
NM_000314.6(PTEN):c.-1195_-1184delAAGCCGCAGCAA rs587781340
NM_000314.6(PTEN):c.-1311T>C rs70937047
NM_000314.6(PTEN):c.132C>T (p.Gly44=) rs150651961
NM_000314.6(PTEN):c.210-39A>G rs370918174
NM_000314.6(PTEN):c.210-7_210-3del5 rs587780544
NM_000314.6(PTEN):c.309delC (p.Cys105Valfs) rs1554898088
NM_000314.6(PTEN):c.521A>G (p.Tyr174Cys) rs864622341
NM_000314.6(PTEN):c.720C>T (p.Tyr240=) rs190070312
NM_000314.6(PTEN):c.882T>G (p.Ser294Arg) rs143335584
NM_000314.7(PTEN):c.-1142C>T rs563841270
NM_000314.7(PTEN):c.-909T>C rs550385924
NM_000314.7(PTEN):c.235G>A (p.Ala79Thr) rs202004587
NM_000384.2(APOB):c.10131G>A (p.Leu3377=) rs1799812
NM_000384.2(APOB):c.10580G>A (p.Arg3527Gln) rs5742904
NM_000384.2(APOB):c.10701G>A (p.Thr3567=) rs12713558
NM_000384.2(APOB):c.10737C>T (p.Thr3579=) rs12713554
NM_000384.2(APOB):c.11789-8C>T rs201274370
NM_000384.2(APOB):c.11808C>T (p.Ile3936=) rs12720852
NM_000384.2(APOB):c.1223T>C (p.Ile408Thr) rs12714225
NM_000384.2(APOB):c.12382G>A (p.Val4128Met) rs1801703
NM_000384.2(APOB):c.12697T>A (p.Ser4233Thr) rs61743299
NM_000384.2(APOB):c.12794T>C (p.Val4265Ala) rs61743502
NM_000384.2(APOB):c.12940A>G (p.Ile4314Val) rs72654423
NM_000384.2(APOB):c.13441G>A (p.Ala4481Thr) rs1801695
NM_000384.2(APOB):c.2188G>A (p.Val730Ile) rs12691202
NM_000384.2(APOB):c.2222C>A (p.Thr741Asn) rs12714192
NM_000384.2(APOB):c.3509-10G>A rs12720770
NM_000384.2(APOB):c.3634C>A (p.Leu1212Met) rs61736761
NM_000384.2(APOB):c.433C>T (p.Pro145Ser) rs6752026
NM_000384.2(APOB):c.5741A>G (p.Asn1914Ser) rs1801699
NM_000384.2(APOB):c.6261C>A (p.Thr2087=) rs61744855
NM_000384.2(APOB):c.7367C>A (p.Ala2456Asp) rs12713675
NM_000384.2(APOB):c.7696G>A (p.Glu2566Lys) rs1801696
NM_000384.2(APOB):c.8148C>T (p.Ile2716=) rs6413458
NM_000384.2(APOB):c.9004C>T (p.Leu3002=) rs12713600
NM_000384.2(APOB):c.9880T>C (p.Ser3294Pro) rs12720855
NM_000455.4(STK11):c.-2G>T rs774072752
NM_000455.4(STK11):c.1038C>T (p.Gly346=) rs767565606
NM_000455.4(STK11):c.1041G>A (p.Ala347=) rs537906142
NM_000455.4(STK11):c.1108+3G>A rs755746417
NM_000455.4(STK11):c.1109-4C>T rs1407794756
NM_000455.4(STK11):c.1185A>G (p.Thr395=) rs370207155
NM_000455.4(STK11):c.1190C>T (p.Ala397Val) rs558040549
NM_000455.4(STK11):c.1193C>T (p.Ala398Val) rs768058962
NM_000455.4(STK11):c.1194G>A (p.Ala398=) rs184271025
NM_000455.4(STK11):c.1211C>T (p.Ser404Phe) rs200078204
NM_000455.4(STK11):c.1225C>T (p.Arg409Trp) rs368466538
NM_000455.4(STK11):c.1226G>A (p.Arg409Gln) rs587782364
NM_000455.4(STK11):c.1284G>A (p.Ser428=) rs369097329
NM_000455.4(STK11):c.1296G>A (p.Gln432=) rs587781179
NM_000455.4(STK11):c.189G>A (p.Val63=) rs1342321548
NM_000455.4(STK11):c.348G>T (p.Val116=) rs774482643
NM_000455.4(STK11):c.375-7G>A rs587781176
NM_000455.4(STK11):c.426C>T (p.Ser142=) rs758448869
NM_000455.4(STK11):c.42G>A (p.Glu14=) rs758769888
NM_000455.4(STK11):c.464+10C>T rs587782445
NM_000455.4(STK11):c.464+8C>T rs863224669
NM_000455.4(STK11):c.464+9G>A rs376313955
NM_000455.4(STK11):c.465-8G>A rs878853990
NM_000455.4(STK11):c.526G>A (p.Asp176Asn) rs730881979
NM_000455.4(STK11):c.537G>A (p.Pro179=) rs528535500
NM_000455.4(STK11):c.552C>T (p.Leu184=) rs587780719
NM_000455.4(STK11):c.597+8C>T rs565387911
NM_000455.4(STK11):c.598-8C>T rs373610101
NM_000455.4(STK11):c.612C>T (p.Phe204=) rs774100153
NM_000455.4(STK11):c.615G>A (p.Ala205=) rs532889728
NM_000455.4(STK11):c.618G>A (p.Ala206=) rs370976710
NM_000455.4(STK11):c.725G>A (p.Gly242Glu)
NM_000455.4(STK11):c.787T>C (p.Leu263=) rs372378119
NM_000455.4(STK11):c.825G>A (p.Pro275=) rs202011521
NM_000455.4(STK11):c.840C>T (p.Pro280=) rs1471868090
NM_000455.4(STK11):c.842C>T (p.Pro281Leu) rs121913322
NM_000455.4(STK11):c.894C>A (p.Phe298Leu) rs199681533
NM_000455.4(STK11):c.921-10G>A rs183406870
NM_000455.4(STK11):c.921-9C>T rs761688641
NM_000455.4(STK11):c.945G>A (p.Pro315=) rs376329042
NM_000455.4(STK11):c.96C>G (p.Thr32=) rs79175212
NM_000455.4(STK11):c.970C>G (p.Pro324Ala) rs549474196
NM_000461.4(THRB):c.1029T>G (p.Asn343Lys) rs1354053223
NM_000461.4(THRB):c.1324A>G (p.Met442Val) rs121918691
NM_000461.4(THRB):c.213C>A (p.Asp71Glu) rs141495471
NM_000465.3(BARD1):c.1059C>G (p.Pro353=) rs368649242
NM_000465.3(BARD1):c.144G>A (p.Leu48=) rs151168457
NM_000465.3(BARD1):c.1473G>A (p.Gly491=) rs151080730
NM_000465.3(BARD1):c.1652C>G (p.Ser551Ter) rs587781707
NM_000465.3(BARD1):c.1670G>C (p.Cys557Ser) rs28997576
NM_000465.3(BARD1):c.1694G>A (p.Arg565His) rs146946984
NM_000465.3(BARD1):c.1738G>A (p.Glu580Lys) rs35306212
NM_000465.3(BARD1):c.1835A>T (p.Asp612Val) rs201140528
NM_000465.3(BARD1):c.1933T>C (p.Cys645Arg) rs2228456
NM_000465.3(BARD1):c.1972C>T (p.Arg658Cys) rs3738888
NM_000465.3(BARD1):c.1977A>G (p.Arg659=) rs147215925
NM_000465.3(BARD1):c.2116A>G (p.Lys706Glu) rs149262370
NM_000465.3(BARD1):c.2191C>G (p.Arg731Gly) rs76744638
NM_000465.3(BARD1):c.2212A>G (p.Ile738Val) rs61754118
NM_000465.3(BARD1):c.2280G>A (p.Ser760=) rs749959440
NM_000465.3(BARD1):c.2282G>A (p.Ser761Asn) rs142155101
NM_000465.3(BARD1):c.33G>T (p.Gln11His) rs143914387
NM_000465.3(BARD1):c.348T>C (p.His116=) rs139934362
NM_000465.3(BARD1):c.353A>G (p.Asn118Ser) rs142864491
NM_000465.3(BARD1):c.55G>T (p.Glu19Ter) rs752514155
NM_000465.3(BARD1):c.609A>C (p.Gly203=) rs28997574
NM_000465.3(BARD1):c.620A>G (p.Lys207Arg) rs34969857
NM_000465.3(BARD1):c.659T>C (p.Leu220Ser) rs138593305
NM_000465.3(BARD1):c.684A>G (p.Glu228=) rs780627045
NM_000465.3(BARD1):c.687T>C (p.Phe229=) rs756803590
NM_000465.3(BARD1):c.716T>A (p.Leu239Gln) rs200359745
NM_000465.3(BARD1):c.722C>G (p.Ser241Cys) rs3738885
NM_000465.3(BARD1):c.738A>G (p.Pro246=) rs587780859
NM_000465.3(BARD1):c.773T>C (p.Ile258Thr) rs146223579
NM_000465.3(BARD1):c.79G>T (p.Glu27Ter) rs587780037
NM_000465.3(BARD1):c.90T>A (p.Gly30=) rs150354152
NM_000465.4(BARD1):c.-4G>A rs761863671
NM_000492.3(CFTR):c.-165G>A rs145483167
NM_000492.3(CFTR):c.-461A>G rs185028612
NM_000492.3(CFTR):c.1001G>A (p.Arg334Gln) rs397508137
NM_000492.3(CFTR):c.1007T>A (p.Ile336Lys) rs397508139
NM_000492.3(CFTR):c.1046C>T (p.Ala349Val) rs121909021
NM_000492.3(CFTR):c.1054C>T (p.Arg352Trp) rs193922497
NM_000492.3(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190
NM_000492.3(CFTR):c.1327_1330dupGATA (p.Ile444Argfs) rs397508189
NM_000492.3(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000492.3(CFTR):c.1516A>G (p.Ile506Val) rs1800091
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000492.3(CFTR):c.1523T>G (p.Phe508Cys) rs74571530
NM_000492.3(CFTR):c.1581A>G (p.Glu527=) rs1800094
NM_000492.3(CFTR):c.1584+53_1584+63dup rs397508232
NM_000492.3(CFTR):c.1584G>A (p.Glu528=) rs1800095
NM_000492.3(CFTR):c.1624G>T (p.Gly542Ter) rs113993959
NM_000492.3(CFTR):c.1647T>G (p.Ser549Arg) rs121909005
NM_000492.3(CFTR):c.1652G>A (p.Gly551Asp) rs75527207
NM_000492.3(CFTR):c.1680-877G>T rs397508261
NM_000492.3(CFTR):c.1682C>A (p.Ala561Glu) rs121909047
NM_000492.3(CFTR):c.1692delA (p.Asp565Metfs) rs193922505
NM_000492.3(CFTR):c.1727G>C (p.Gly576Ala) rs1800098
NM_000492.3(CFTR):c.1766G>A (p.Ser589Asn) rs397508300
NM_000492.3(CFTR):c.1826A>T (p.His609Leu) rs397508310
NM_000492.3(CFTR):c.1865G>A (p.Gly622Asp) rs121908759
NM_000492.3(CFTR):c.2002C>T (p.Arg668Cys) rs1800100
NM_000492.3(CFTR):c.200C>T (p.Pro67Leu) rs368505753
NM_000492.3(CFTR):c.220C>T (p.Arg74Trp) rs115545701
NM_000492.3(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.3(CFTR):c.2260G>A (p.Val754Met) rs150157202
NM_000492.3(CFTR):c.2620-15C>G rs139379077
NM_000492.3(CFTR):c.2735C>T (p.Ser912Leu) rs121909034
NM_000492.3(CFTR):c.2810dupT (p.Val938Glyfs) rs193922510
NM_000492.3(CFTR):c.2813T>G (p.Val938Gly) rs193922511
NM_000492.3(CFTR):c.2820T>G (p.Thr940=) rs60887846
NM_000492.3(CFTR):c.2834C>T (p.Ser945Leu) rs397508442
NM_000492.3(CFTR):c.2856G>C (p.Met952Ile) rs151048781
NM_000492.3(CFTR):c.2898G>A (p.Thr966=) rs1800109
NM_000492.3(CFTR):c.2900T>C (p.Leu967Ser) rs1800110
NM_000492.3(CFTR):c.2909-15T>G rs397508455
NM_000492.3(CFTR):c.2991G>C (p.Leu997Phe) rs1800111
NM_000492.3(CFTR):c.3080T>C (p.Ile1027Thr) rs1800112
NM_000492.3(CFTR):c.3154T>G (p.Phe1052Val) rs150212784
NM_000492.3(CFTR):c.3199G>A (p.Ala1067Thr) rs121909020
NM_000492.3(CFTR):c.3204C>T (p.Phe1068=) rs1800116
NM_000492.3(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110
NM_000492.3(CFTR):c.3208C>T (p.Arg1070Trp) rs202179988
NM_000492.3(CFTR):c.3285A>T (p.Thr1095=) rs1800118
NM_000492.3(CFTR):c.3454G>C (p.Asp1152His) rs75541969
NM_000492.3(CFTR):c.3469-17T>C rs199630678
NM_000492.3(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.3(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792
NM_000492.3(CFTR):c.3718-2473_3718-2472insCAGAGT rs397515289
NM_000492.3(CFTR):c.3752G>A (p.Ser1251Asn) rs74503330
NM_000492.3(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167
NM_000492.3(CFTR):c.3846G>A (p.Trp1282Ter) rs77010898
NM_000492.3(CFTR):c.3897A>G (p.Thr1299=) rs1800131
NM_000492.3(CFTR):c.38C>T (p.Ser13Phe) rs397508635
NM_000492.3(CFTR):c.4056G>T (p.Gln1352His) rs113857788
NM_000492.3(CFTR):c.4243-20A>G rs138025486
NM_000492.3(CFTR):c.4243-7delT rs878854021
NM_000492.3(CFTR):c.4272C>T (p.Tyr1424=) rs1800135
NM_000492.3(CFTR):c.4296C>T (p.Asn1432=) rs761669740
NM_000492.3(CFTR):c.4357C>T (p.Arg1453Trp) rs4148725
NM_000492.3(CFTR):c.489+3A>G rs377729736
NM_000492.3(CFTR):c.532G>A (p.Gly178Arg) rs80282562
NM_000492.3(CFTR):c.601G>A (p.Val201Met) rs138338446
NM_000492.3(CFTR):c.617T>G (p.Leu206Trp) rs121908752
NM_000492.3(CFTR):c.650A>G (p.Glu217Gly) rs121909046
NM_000492.3(CFTR):c.744-9_744-6dupGATT rs1805171
NM_000492.3(CFTR):c.772A>G (p.Arg258Gly) rs191456345
NM_000492.3(CFTR):c.870-7_870-5del rs759762840
NM_000492.3(CFTR):c.91C>T (p.Arg31Cys) rs1800073
NM_000517.4(HBA2):c.*103G>A rs1363099908
NM_000517.4(HBA2):c.*98T>C rs1455865276
NM_000517.4(HBA2):c.300+64A>G rs111264741
NM_000517.4(HBA2):c.420del (p.Lys140Asnfs) rs63750520
NM_000517.4(HBA2):c.427T>C (p.Ter143Gln) rs41464951
NM_000517.4(HBA2):c.427T>G (p.Ter143Glu) rs41464951
NM_000517.4(HBA2):c.95+27C>T rs558457816
NM_000517.6(HBA2):c.*92A>G rs63750067
NM_000517.6(HBA2):c.146T>G (p.Leu49Arg) rs41392146
NM_000517.6(HBA2):c.207C>G (p.Asn69Lys) rs111033601
NM_000517.6(HBA2):c.237C>A (p.Asn79Lys)
NM_000517.6(HBA2):c.391G>C (p.Ala131Pro) rs41529844
NM_000517.6(HBA2):c.428A>C (p.Ter143Ser) rs41321345
NM_000517.6(HBA2):c.69C>T (p.Gly23=) rs63751457
NM_000517.6(HBA2):c.89T>C (p.Leu30Pro) rs41341344
NM_000518.4(HBB):c.-82C>T rs34500389
NM_000518.4(HBB):c.126_129delCTTT (p.Phe42fs) rs80356821
NM_000518.4(HBB):c.157G>A (p.Asp53Asn) rs33961886
NM_000518.4(HBB):c.174C>T (p.Asn58=) rs35278874
NM_000518.4(HBB):c.203_204delTG (p.Val68Alafs) rs34282684
NM_000518.4(HBB):c.207C>T (p.Leu69=) rs112287010
NM_000518.4(HBB):c.230delC (p.Ala77Valfs) rs281864901
NM_000518.4(HBB):c.23A>G (p.Glu8Gly) rs34387455
NM_000518.4(HBB):c.246C>A (p.Leu82=) rs145669504
NM_000518.4(HBB):c.251delG (p.Gly84Alafs) rs193922555
NM_000518.4(HBB):c.263C>A (p.Thr88Lys) rs33993568
NM_000518.4(HBB):c.294C>T (p.His98=) rs34515413
NM_000518.4(HBB):c.316-125A>G rs63751175
NM_000518.4(HBB):c.34G>A (p.Val12Ile) rs33974228
NM_000518.4(HBB):c.34G>T (p.Val12Phe) rs33974228
NM_000518.4(HBB):c.364G>A (p.Glu122Lys) rs33946267
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000518.4(HBB):c.374C>A (p.Pro125Gln) rs33983276
NM_000518.4(HBB):c.374C>T (p.Pro125Leu) rs33983276
NM_000518.4(HBB):c.394C>G (p.Gln132Glu) rs33910209
NM_000518.4(HBB):c.404T>C (p.Val135Ala) rs33966761
NM_000518.4(HBB):c.440_441dup (p.Ter148Thrfs) rs33999427
NM_000518.4(HBB):c.44T>C (p.Leu15Pro) rs33935445
NM_000518.4(HBB):c.44T>G (p.Leu15Arg) rs33935445
NM_000518.4(HBB):c.45G>A (p.Leu15=) rs762782573
NM_000518.4(HBB):c.64G>T (p.Asp22Tyr) rs33950093
NM_000518.4(HBB):c.67G>C (p.Glu23Gln) rs33959855
NM_000518.4(HBB):c.68A>T (p.Glu23Val) rs33936254
NM_000518.5(HBB):c.*96T>C rs34029390
NM_000518.5(HBB):c.-106G>C rs63750681
NM_000518.5(HBB):c.-137C>A rs33941377
NM_000518.5(HBB):c.-137C>G rs33941377
NM_000518.5(HBB):c.-138C>A rs33944208
NM_000518.5(HBB):c.-138C>T rs33944208
NM_000518.5(HBB):c.-31C>T rs63750628
NM_000518.5(HBB):c.-51T>C rs386134236
NM_000518.5(HBB):c.-75G>C rs63750400
NM_000518.5(HBB):c.-78A>G rs33931746
NM_000518.5(HBB):c.-92C>G rs397515291
NM_000518.5(HBB):c.114G>A (p.Trp38Ter) rs33974936
NM_000518.5(HBB):c.122G>A (p.Arg41Lys) rs34831026
NM_000518.5(HBB):c.16C>T (p.Pro6Ser) rs33912272
NM_000518.5(HBB):c.217dup (p.Ser73Lysfs) rs33969853
NM_000518.5(HBB):c.253A>G (p.Thr85Ala) rs35960772
NM_000518.5(HBB):c.286A>G (p.Lys96Glu) rs33914359
NM_000518.5(HBB):c.2T>C (p.Met1Thr) rs33941849
NM_000518.5(HBB):c.309C>A (p.Asn103Lys) rs34227486
NM_000518.5(HBB):c.315G>C (p.Arg105Ser) rs33914944
NM_000518.5(HBB):c.316C>T (p.Leu106Phe) rs34022507
NM_000518.5(HBB):c.324C>T (p.Gly108=) rs193922562
NM_000518.5(HBB):c.344T>C (p.Leu115Pro) rs36015961
NM_000518.5(HBB):c.359G>A (p.Gly120Asp) rs33947020
NM_000518.5(HBB):c.380T>A (p.Val127Glu) rs33925391
NM_000518.5(HBB):c.394C>A (p.Gln132Lys) rs33910209
NM_000518.5(HBB):c.4G>A (p.Val2Met) rs33958358
NM_000518.5(HBB):c.50G>A (p.Gly17Asp) rs33962676
NM_000518.5(HBB):c.59A>G (p.Asn20Ser) rs33972047
NM_000518.5(HBB):c.61G>A (p.Val21Met) rs35890959
NM_000518.5(HBB):c.75T>A (p.Gly25=) rs33951465
NM_000518.5(HBB):c.85dup (p.Leu29Profs) rs35532010
NM_000518.5(HBB):c.92+1G>T rs33971440
NM_000520.5(HEXA):c.1306A>G (p.Ile436Val) rs1800431
NM_000520.5(HEXA):c.1518A>G (p.Glu506=) rs4777502
NM_000527.4(LDLR):c.1061-8T>C rs72658861
NM_000527.4(LDLR):c.1414G>T (p.Asp472Tyr) rs730882102
NM_000527.4(LDLR):c.1706-10G>A rs17248882
NM_000527.4(LDLR):c.1775G>A (p.Gly592Glu) rs137929307
NM_000527.4(LDLR):c.2177C>T (p.Thr726Ile) rs45508991
NM_000527.4(LDLR):c.2231G>A (p.Arg744Gln) rs137853963
NM_000527.4(LDLR):c.313+1G>A rs112029328
NM_000527.4(LDLR):c.718G>A (p.Glu240Lys) rs768563000
NM_000527.4(LDLR):c.90C>T (p.Asn30=) rs72658855
NM_000535.5(PMS2):c.756_757delTG (p.Cys252Terfs) rs1064794905
NM_000535.6(PMS2):c.-7T>C rs199660792
NM_000535.6(PMS2):c.1004A>G (p.Asn335Ser) rs200513014
NM_000535.6(PMS2):c.1096G>C (p.Asp366His) rs141769057
NM_000535.6(PMS2):c.1145-10G>A rs533551639
NM_000535.6(PMS2):c.1199A>C (p.Gln400Pro) rs148069478
NM_000535.6(PMS2):c.1243G>A (p.Val415Met) rs138387687
NM_000535.6(PMS2):c.1320A>G (p.Pro440=) rs138697590
NM_000535.6(PMS2):c.137G>A (p.Ser46Asn) rs121434629
NM_000535.6(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000535.6(PMS2):c.1399G>A (p.Val467Ile) rs373611083
NM_000535.6(PMS2):c.1463C>T (p.Ala488Val) rs587779328
NM_000535.6(PMS2):c.1490G>A (p.Gly497Asp) rs199739859
NM_000535.6(PMS2):c.1501G>A (p.Val501Met) rs540287433
NM_000535.6(PMS2):c.1533G>A (p.Thr511=) rs542520309
NM_000535.6(PMS2):c.1560G>A (p.Ala520=) rs201167814
NM_000535.6(PMS2):c.1567T>A (p.Ser523Thr) rs63751132
NM_000535.6(PMS2):c.1569C>G (p.Ser523=) rs141458772
NM_000535.6(PMS2):c.166C>G (p.Leu56Val) rs371011390
NM_000535.6(PMS2):c.1708A>G (p.Asn570Asp) rs115670442
NM_000535.6(PMS2):c.1831dup (p.Ile611Asnfs) rs63750250
NM_000535.6(PMS2):c.1980C>T (p.Ala660=) rs368928783
NM_000535.6(PMS2):c.1A>G (p.Met1Val) rs587779333
NM_000535.6(PMS2):c.2012C>T (p.Thr671Met) rs587780046
NM_000535.6(PMS2):c.2149G>A (p.Val717Met) rs201671325
NM_000535.6(PMS2):c.2160G>A (p.Gly720=) rs546441038
NM_000535.6(PMS2):c.2187C>G (p.Leu729=) rs373630535
NM_000535.6(PMS2):c.2276-10A>G rs573900018
NM_000535.6(PMS2):c.2347G>A (p.Val783Ile) rs553286217
NM_000535.6(PMS2):c.2356C>A (p.Leu786Met) rs576055272
NM_000535.6(PMS2):c.240C>T (p.Phe80=) rs143162541
NM_000535.6(PMS2):c.241G>T (p.Glu81Ter) rs730881919
NM_000535.6(PMS2):c.2500_2501delATinsG (p.Met834Glyfs) rs587781626
NM_000535.6(PMS2):c.321G>A (p.Arg107=) rs756420858
NM_000535.6(PMS2):c.353+6A>G rs376449640
NM_000535.6(PMS2):c.497T>C (p.Leu166Pro) rs116349687
NM_000535.6(PMS2):c.53T>C (p.Ile18Thr) rs201343342
NM_000535.6(PMS2):c.572A>G (p.Tyr191Cys) rs375289386
NM_000535.6(PMS2):c.595C>T (p.Arg199Cys) rs372297364
NM_000535.6(PMS2):c.620G>A (p.Gly207Glu) rs374704824
NM_000535.6(PMS2):c.682G>A (p.Gly228Ser) rs376258383
NM_000535.6(PMS2):c.706-4dup rs60794673
NM_000535.6(PMS2):c.709C>T (p.Gln237Ter) rs1458321358
NM_000535.6(PMS2):c.750C>T (p.Ser250=) rs200439295
NM_000535.6(PMS2):c.953A>G (p.Tyr318Cys) rs139438201
NM_000535.7(PMS2):c.1099G>A (p.Val367Ile) rs746889239
NM_000535.7(PMS2):c.1248C>A (p.Ser416=) rs780709321
NM_000535.7(PMS2):c.2049C>T (p.Asn683=) rs752950007
NM_000535.7(PMS2):c.2112C>T (p.Asp704=) rs764735061
NM_000535.7(PMS2):c.23+7G>C rs878854047
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn) rs143340522
NM_000535.7(PMS2):c.2538A>G (p.Gly846=) rs863224368
NM_000535.7(PMS2):c.354-2A>G rs786202098
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr) rs114090343
NM_000535.7(PMS2):c.903+4T>A rs753803330
NM_000546.5(TP53):c.1014C>T (p.Phe338=) rs150293825
NM_000546.5(TP53):c.1015G>A (p.Glu339Lys) rs17882252
NM_000546.5(TP53):c.102C>G (p.Pro34=) rs11575998
NM_000546.5(TP53):c.1040C>A (p.Ala347Asp) rs397516434
NM_000546.5(TP53):c.1079G>C (p.Gly360Ala) rs35993958
NM_000546.5(TP53):c.123T>C (p.Asp41=) rs369129220
NM_000546.5(TP53):c.173C>G (p.Pro58Arg) rs144386518
NM_000546.5(TP53):c.18A>C (p.Ser6=) rs573130482
NM_000546.5(TP53):c.30C>T (p.Val10=) rs568171603
NM_000546.5(TP53):c.319T>C (p.Tyr107His) rs368771578
NM_000546.5(TP53):c.354A>T (p.Thr118=) rs751978853
NM_000546.5(TP53):c.464C>A (p.Thr155Asn) rs786202752
NM_000546.5(TP53):c.467G>A (p.Arg156His) rs371524413
NM_000546.5(TP53):c.472C>T (p.Arg158Cys) rs587780068
NM_000546.5(TP53):c.617T>C (p.Leu206Ser) rs1555525804
NM_000546.5(TP53):c.659A>G (p.Tyr220Cys) rs121912666
NM_000546.5(TP53):c.6G>A (p.Glu2=) rs143458271
NM_000546.5(TP53):c.772G>A (p.Glu258Lys) rs121912652
NM_000546.5(TP53):c.817C>T (p.Arg273Cys) rs121913343
NM_000546.5(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.5(TP53):c.847C>T (p.Arg283Cys) rs149633775
NM_000546.5(TP53):c.848G>A (p.Arg283His) rs371409680
NM_000546.5(TP53):c.869G>A (p.Arg290His) rs55819519
NM_000546.5(TP53):c.885T>C (p.Pro295=) rs200073907
NM_000546.5(TP53):c.903A>G (p.Pro301=) rs72661120
NM_000546.5(TP53):c.924G>C (p.Leu308=) rs786202546
NM_000546.5(TP53):c.97-9C>T rs202217267
NM_000552.4(VWF):c.1077C>T (p.Pro359=) rs71582884
NM_000552.4(VWF):c.1433-10T>C rs66722092
NM_000552.4(VWF):c.2220G>A (p.Met740Ile) rs2228317
NM_000552.4(VWF):c.2451T>A (p.His817Gln) rs57950734
NM_000552.4(VWF):c.3240T>C (p.Tyr1080=) rs4021576
NM_000552.4(VWF):c.3258C>T (p.Tyr1086=) rs112634786
NM_000552.4(VWF):c.3379+7A>C rs113446850
NM_000552.4(VWF):c.3414C>T (p.Asn1138=) rs560397436
NM_000552.4(VWF):c.3426T>C (p.Cys1142=) rs535693463
NM_000552.4(VWF):c.3579T>C (p.Pro1193=) rs16933969
NM_000552.4(VWF):c.3795G>A (p.Pro1265=) rs2228319
NM_000552.4(VWF):c.390C>T (p.Ser130=) rs2229444
NM_000552.4(VWF):c.3922C>T (p.Arg1308Cys) rs61749387
NM_000552.4(VWF):c.4138A>G (p.Ile1380Val) rs11063988
NM_000552.4(VWF):c.4196G>A (p.Arg1399His) rs1800382
NM_000552.4(VWF):c.4304A>G (p.Asn1435Ser) rs11063987
NM_000552.4(VWF):c.4443G>T (p.Gly1481=) rs144796763
NM_000552.4(VWF):c.4641T>C (p.Thr1547=) rs216310
NM_000552.4(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386
NM_000552.4(VWF):c.5277C>T (p.Asp1759=) rs41276736
NM_000552.4(VWF):c.5313G>T (p.Gly1771=) rs2229448
NM_000552.4(VWF):c.5667C>T (p.Pro1889=) rs56981471
NM_000552.4(VWF):c.6187C>T (p.Pro2063Ser) rs61750615
NM_000552.4(VWF):c.6345T>A (p.Thr2115=) rs11537642
NM_000552.4(VWF):c.6554G>A (p.Arg2185Gln) rs2229446
NM_000558.3(HBA1):c.-42C>T rs370305736
NM_000558.3(HBA1):c.49A>G (p.Lys17Glu) rs41407250
NM_000558.4(HBA1):c.*46C>A rs141514155
NM_000558.4(HBA1):c.396T>C (p.Ser132=) rs149264789
NM_000558.5(HBA1):c.-52C>T
NM_000558.5(HBA1):c.17C>A (p.Ala6Asp) rs34090856
NM_000558.5(HBA1):c.223G>C (p.Asp75His) rs28928875
NM_000558.5(HBA1):c.362C>A (p.Ala121Glu) rs63749927
NM_000558.5(HBA1):c.364G>A (p.Val122Met) rs63751008
NM_000558.5(HBA1):c.47G>A (p.Gly16Asp) rs281865560
NM_000558.5(HBA1):c.84G>T (p.Glu28Asp) rs41530750
NM_001128425.1(MUTYH):c.1013_1014delAGinsGC (p.Gln338Arg) rs587780083
NM_001128425.1(MUTYH):c.1038G>A (p.Ser346=) rs372673338
NM_001128425.1(MUTYH):c.1147delC (p.Ala385Profs) rs587778536
NM_001128425.1(MUTYH):c.1187G>A (p.Gly396Asp) rs36053993
NM_001128425.1(MUTYH):c.1227_1228dupGG (p.Glu410Glyfs) rs587780078
NM_001128425.1(MUTYH):c.1276C>T (p.Arg426Cys) rs150792276
NM_001128425.1(MUTYH):c.129C>T (p.Asn43=) rs141679570
NM_001128425.1(MUTYH):c.1420C>T (p.Arg474Cys) rs200229669
NM_001128425.1(MUTYH):c.1431G>C (p.Thr477=) rs74318065
NM_001128425.1(MUTYH):c.1449C>T (p.Thr483=) rs150269172
NM_001128425.1(MUTYH):c.1476+2C>T rs140288388
NM_001128425.1(MUTYH):c.1544C>T (p.Ser515Phe) rs140118273
NM_001128425.1(MUTYH):c.1548G>A (p.Pro516=) rs143796254
NM_001128425.1(MUTYH):c.1585C>A (p.Leu529Met) rs3219496
NM_001128425.1(MUTYH):c.1600C>T (p.Arg534Trp) rs144616312
NM_001128425.1(MUTYH):c.1601G>A (p.Arg534Gln) rs3219497
NM_001128425.1(MUTYH):c.216G>A (p.Pro72=) rs144551668
NM_001128425.1(MUTYH):c.309G>A (p.Trp103Ter) rs748170941
NM_001128425.1(MUTYH):c.312C>T (p.Tyr104=) rs121908380
NM_001128425.1(MUTYH):c.389-1G>C rs372267274
NM_001128425.1(MUTYH):c.481G>C (p.Asp161His) rs564930066
NM_001128425.1(MUTYH):c.505-4A>G rs201678305
NM_001128425.1(MUTYH):c.572G>A (p.Arg191Gln) rs369677603
NM_001128425.1(MUTYH):c.654C>T (p.Tyr218=) rs778899897
NM_001128425.1(MUTYH):c.696C>T (p.Thr232=) rs780747266
NM_001128425.1(MUTYH):c.700G>A (p.Val234Met) rs200165598
NM_001128425.1(MUTYH):c.719C>T (p.Ala240Val) rs369120013
NM_001128425.1(MUTYH):c.734G>A (p.Arg245His) rs140342925
NM_001128425.1(MUTYH):c.920G>A (p.Arg307Gln) rs140156029
NM_001128425.1(MUTYH):c.925C>T (p.Arg309Cys) rs138089183
NM_001128425.1(MUTYH):c.934-2A>G rs77542170
NM_001128425.1(MUTYH):c.971C>T (p.Ser324Leu) rs558173961
NM_001128425.1(MUTYH):c.985G>A (p.Val329Met) rs147718169
NM_001128425.1(MUTYH):c.998-9C>T rs3219488
NM_001252634.1(THRB):c.1251T>C (p.Phe417=) rs13081063
NM_001252634.1(THRB):c.959G>A (p.Arg320His) rs121918693
NM_001256849.1(POLD1):c.2007-4G>A rs202035484
NM_001256849.1(POLD1):c.2275G>A (p.Val759Ile) rs145473716
NM_001256849.1(POLD1):c.56G>A (p.Arg19His) rs3218773
NM_001281723.2(BTD):c.1213T>G (p.Phe405Val) rs104893686
NM_001281723.2(BTD):c.1217C>T (p.Thr406Ile) rs397514405
NM_001281723.2(BTD):c.1635C>A (p.Asp545Glu) rs146136265
NM_001281723.2(BTD):c.267C>T (p.Asn89=) rs147057169
NM_001281723.2(BTD):c.340G>C (p.Glu114Gln) rs397514352
NM_001281723.2(BTD):c.347G>T (p.Gly116Val) rs375712490
NM_001281723.2(BTD):c.517G>A (p.Ala173Thr) rs13073139
NM_001281723.2(BTD):c.534G>T (p.Lys178Asn) rs397514367
NM_001281724.2(BTD):c.-216C>T rs114567021
NM_001281724.2(BTD):c.1336G>C (p.Asp446His) rs13078881
NM_001281724.2(BTD):c.1374A>C (p.Gln458His) rs80338685
NM_001281724.2(BTD):c.208_211dup (p.Leu71Hisfs) rs1205964567
NM_001281724.2(BTD):c.632G>A (p.Arg211His) rs398123139
NM_001281724.2(BTD):c.651C>T (p.Leu217=) rs145388314
NM_001281725.2(BTD):c.835G>C (p.Ala279Pro) rs1157567876
NM_002485.4(NBN):c.-10A>T rs759094270
NM_002485.4(NBN):c.1035C>T (p.Gly345=) rs146605798
NM_002485.4(NBN):c.1142delC (p.Pro381Glnfs) rs587781969
NM_002485.4(NBN):c.1222A>G (p.Lys408Glu) rs34120922
NM_002485.4(NBN):c.1317A>G (p.Ile439Met) rs28538230
NM_002485.4(NBN):c.1398-10dupT rs587780555
NM_002485.4(NBN):c.1489A>G (p.Thr497Ala) rs3026268
NM_002485.4(NBN):c.1690G>A (p.Glu564Lys) rs72550742
NM_002485.4(NBN):c.1720T>A (p.Leu574Ile) rs142334798
NM_002485.4(NBN):c.1809C>A (p.Phe603Leu) rs192236678
NM_002485.4(NBN):c.1882G>A (p.Glu628Lys) rs115321485
NM_002485.4(NBN):c.1914+9C>T rs13312938
NM_002485.4(NBN):c.1999T>C (p.Ser667Pro) rs587780091
NM_002485.4(NBN):c.207A>G (p.Lys69=) rs754352569
NM_002485.4(NBN):c.2082T>G (p.Pro694=) rs7823648
NM_002485.4(NBN):c.2146A>G (p.Asn716Asp) rs72563785
NM_002485.4(NBN):c.2196A>G (p.Gln732=) rs587780780
NM_002485.4(NBN):c.2235-3C>T rs1554553897
NM_002485.4(NBN):c.283G>A (p.Asp95Asn) rs61753720
NM_002485.4(NBN):c.37+5G>A rs116735828
NM_002485.4(NBN):c.38-10T>A rs556807466
NM_002485.4(NBN):c.381T>C (p.Ala127=) rs61754795
NM_002485.4(NBN):c.425A>G (p.Asn142Ser) rs769414
NM_002485.4(NBN):c.426T>C (p.Asn142=) rs143070291
NM_002485.4(NBN):c.441C>T (p.Cys147=) rs137857529
NM_002485.4(NBN):c.511A>G (p.Ile171Val) rs61754966
NM_002485.4(NBN):c.628G>T (p.Val210Phe) rs61754796
NM_002485.4(NBN):c.643C>T (p.Arg215Trp) rs34767364
NM_002485.4(NBN):c.657_661delACAAA (p.Lys219Asnfs) rs587776650
NM_002485.4(NBN):c.702+9G>A rs748373099
NM_002485.4(NBN):c.73G>A (p.Val25Ile) rs587781748
NM_002485.4(NBN):c.758C>T (p.Thr253Ile) rs61754967
NM_002485.4(NBN):c.797C>T (p.Pro266Leu) rs769420
NM_002691.3(POLD1):c.1017G>T (p.Ser339=) rs373404887
NM_002691.3(POLD1):c.1092G>C (p.Leu364=) rs139883454
NM_002691.3(POLD1):c.1138-8A>G rs41544624
NM_002691.3(POLD1):c.1173C>T (p.Asp391=) rs2230244
NM_002691.3(POLD1):c.1275C>T (p.Ala425=) rs3219392
NM_002691.3(POLD1):c.1494+5C>T rs565428379
NM_002691.3(POLD1):c.1539G>A (p.Leu513=) rs2230246
NM_002691.3(POLD1):c.1548C>T (p.Ala516=) rs2230247
NM_002691.3(POLD1):c.1608G>A (p.Ala536=) rs568549476
NM_002691.3(POLD1):c.1620C>T (p.Gly540=) rs140216790
NM_002691.3(POLD1):c.1665C>T (p.Val555=) rs150238541
NM_002691.3(POLD1):c.1713C>T (p.Pro571=) rs2230248
NM_002691.3(POLD1):c.1761C>T (p.Ile587=) rs3218755
NM_002691.3(POLD1):c.1795G>A (p.Ala599Thr) rs149569984
NM_002691.3(POLD1):c.1860G>A (p.Thr620=) rs1726790
NM_002691.3(POLD1):c.1932C>G (p.Asp644Glu) rs80214209
NM_002691.3(POLD1):c.1977C>T (p.Ile659=) rs45605236
NM_002691.3(POLD1):c.202+3A>G rs375365167
NM_002691.3(POLD1):c.2052G>C (p.Gln684His) rs144143245
NM_002691.3(POLD1):c.208G>A (p.Val70Ile) rs147911699
NM_002691.3(POLD1):c.2100A>G (p.Val700=) rs772468675
NM_002691.3(POLD1):c.2103C>T (p.Tyr701=) rs201483538
NM_002691.3(POLD1):c.2155-6C>T rs112481714
NM_002691.3(POLD1):c.2163G>A (p.Thr721=) rs763876339
NM_002691.3(POLD1):c.2178G>C (p.Gln726His) rs747483140
NM_002691.3(POLD1):c.2185G>A (p.Glu729Lys) rs200931999
NM_002691.3(POLD1):c.2250+4G>A rs370478977
NM_002691.3(POLD1):c.2250+7G>A rs775363857
NM_002691.3(POLD1):c.2337G>A (p.Ala779=) rs147108748
NM_002691.3(POLD1):c.234C>G (p.Arg78=) rs2228665
NM_002691.3(POLD1):c.2577C>T (p.Gly859=) rs149366027
NM_002691.3(POLD1):c.2599G>A (p.Val867Ile) rs367680864
NM_002691.3(POLD1):c.2628C>T (p.Ile876=) rs75874199
NM_002691.3(POLD1):c.2700C>T (p.His900=) rs769965495
NM_002691.3(POLD1):c.2829G>A (p.Leu943=) rs1225289450
NM_002691.3(POLD1):c.2832C>T (p.Phe944=) rs143974331
NM_002691.3(POLD1):c.2967G>A (p.Thr989=) rs3218752
NM_002691.3(POLD1):c.2979G>A (p.Thr993=) rs3218774
NM_002691.3(POLD1):c.2988G>A (p.Thr996=) rs542996664
NM_002691.3(POLD1):c.3054G>A (p.Val1018=) rs369613619
NM_002691.3(POLD1):c.3198C>T (p.His1066=) rs569987101
NM_002691.3(POLD1):c.3204C>T (p.Asp1068=) rs759019419
NM_002691.3(POLD1):c.3218+5G>A rs569395274
NM_002691.3(POLD1):c.324G>T (p.Ala108=) rs20582
NM_002691.3(POLD1):c.3258G>C (p.Arg1086=) rs776167760
NM_002691.3(POLD1):c.33C>T (p.Pro11=) rs3218768
NM_002691.3(POLD1):c.371T>C (p.Val124Ala) rs199993010
NM_002691.3(POLD1):c.378C>T (p.Arg126=) rs145324823
NM_002691.3(POLD1):c.433G>A (p.Ala145Thr) rs137953986
NM_002691.3(POLD1):c.455C>T (p.Ala152Val) rs41563714
NM_002691.3(POLD1):c.518G>A (p.Ser173Asn) rs1726803
NM_002691.3(POLD1):c.581C>G (p.Ser194Cys) rs144656348
NM_002691.3(POLD1):c.612C>T (p.His204=) rs147881471
NM_002691.3(POLD1):c.624G>A (p.Pro208=) rs78996304
NM_002691.3(POLD1):c.639C>T (p.Thr213=) rs139949679
NM_002691.3(POLD1):c.651G>A (p.Pro217=) rs199622672
NM_002691.3(POLD1):c.666G>A (p.Pro222=) rs746678748
NM_002691.3(POLD1):c.714G>A (p.Thr238=) rs149096523
NM_002691.3(POLD1):c.773C>T (p.Thr258Met) rs76131127
NM_002691.3(POLD1):c.778A>G (p.Ile260Val) rs8105725
NM_002691.3(POLD1):c.783C>T (p.Val261=) rs34269084
NM_002691.3(POLD1):c.80A>T (p.Asp27Val) rs150066950
NM_002691.3(POLD1):c.840+10T>C rs1555790184
NM_002691.3(POLD1):c.841-10A>G rs140160345
NM_002691.3(POLD1):c.849G>T (p.Gln283His) rs113282414
NM_002691.3(POLD1):c.883G>A (p.Val295Met) rs199545019
NM_002691.3(POLD1):c.885G>C (p.Val295=) rs201946114
NM_002691.3(POLD1):c.88C>T (p.Arg30Trp) rs3218772
NM_002691.3(POLD1):c.945C>T (p.Phe315=) rs150116169
NM_002691.3(POLD1):c.957C>T (p.Cys319=) rs377300843
NM_002691.3(POLD1):c.971-4G>A rs200144991
NM_002878.3(RAD51D):c.12C>G (p.Leu4=) rs786203193
NM_002878.3(RAD51D):c.146C>T (p.Ala49Val) rs140317560
NM_002878.3(RAD51D):c.216C>T (p.Tyr72=) rs148690585
NM_002878.3(RAD51D):c.26G>C (p.Cys9Ser) rs140825795
NM_002878.3(RAD51D):c.345+5A>G rs878854562
NM_002878.3(RAD51D):c.346-10C>T rs779972784
NM_002878.3(RAD51D):c.481-7G>A rs145832514
NM_002878.3(RAD51D):c.493C>T (p.Arg165Trp) rs544654228
NM_002878.3(RAD51D):c.556C>T (p.Arg186Ter) rs387906843
NM_002878.3(RAD51D):c.568G>A (p.Ala190Thr) rs80116829
NM_002878.3(RAD51D):c.577-2A>G rs1555567649
NM_002878.3(RAD51D):c.666A>G (p.Glu222=) rs114012742
NM_002878.3(RAD51D):c.695G>A (p.Arg232Gln) rs28363283
NM_002878.3(RAD51D):c.698A>G (p.Glu233Gly) rs28363284
NM_002878.3(RAD51D):c.715C>T (p.Arg239Trp) rs770250516
NM_002878.3(RAD51D):c.771C>T (p.Ser257=) rs146212490
NM_002878.3(RAD51D):c.873C>T (p.Arg291=) rs140848654
NM_002878.3(RAD51D):c.878C>T (p.Ala293Val) rs769732230
NM_002878.3(RAD51D):c.919G>A (p.Glu307Lys) rs115031549
NM_002878.3(RAD51D):c.932T>A (p.Ile311Asn) rs145309168
NM_003001.3(SDHC):c.*84G>C rs201210474
NM_003001.3(SDHC):c.120G>A (p.Arg40=) rs36097930
NM_003001.3(SDHC):c.342C>T (p.His114=) rs143730978
NM_003001.3(SDHC):c.354T>C (p.Phe118=) rs61733156
NM_003001.3(SDHC):c.490A>T (p.Met164Leu) rs200375156
NM_003002.3(SDHD):c.149A>G (p.His50Arg) rs11214077
NM_003002.3(SDHD):c.312C>T (p.His104=) rs61734352
NM_003002.3(SDHD):c.34G>A (p.Gly12Ser) rs34677591
NM_003002.3(SDHD):c.53C>T (p.Ala18Val) rs192332761
NM_004329.2(BMPR1A):c.-6T>C rs1047677696
NM_004329.2(BMPR1A):c.1140C>T (p.Asp380=) rs35572415
NM_004329.2(BMPR1A):c.1299C>T (p.Phe433=) rs150946485
NM_004329.2(BMPR1A):c.1327C>T (p.Arg443Cys) rs35619497
NM_004329.2(BMPR1A):c.1342+6A>G rs55763614
NM_004329.2(BMPR1A):c.1348G>A (p.Val450Met) rs55932635
NM_004329.2(BMPR1A):c.1395G>C (p.Pro465=) rs55845713
NM_004329.2(BMPR1A):c.1419T>G (p.Val473=) rs145756629
NM_004329.2(BMPR1A):c.1433G>A (p.Arg478His) rs113849804
NM_004329.2(BMPR1A):c.1474-10T>C rs369633360
NM_004329.2(BMPR1A):c.1536C>T (p.Leu512=) rs758796892
NM_004329.2(BMPR1A):c.1560G>A (p.Thr520=) rs142775086
NM_004329.2(BMPR1A):c.435G>A (p.Pro145=) rs11818239
NM_004329.2(BMPR1A):c.618A>G (p.Leu206=) rs55992440
NM_004329.2(BMPR1A):c.777G>A (p.Ala259=) rs56108371
NM_004329.2(BMPR1A):c.961C>T (p.Leu321=) rs377412651
NM_004360.4(CDH1):c.*8G>A rs201223411
NM_004360.4(CDH1):c.1145del (p.Gly382Valfs) rs1555515863
NM_004360.4(CDH1):c.1223C>T (p.Ala408Val) rs138135866
NM_004360.4(CDH1):c.1239C>T (p.Tyr413=) rs36074916
NM_004360.4(CDH1):c.1272C>T (p.Val424=) rs61756284
NM_004360.4(CDH1):c.1353T>C (p.Ile451=) rs114192597
NM_004360.4(CDH1):c.1359C>T (p.His453=) rs114861467
NM_004360.4(CDH1):c.1689C>T (p.Ala563=) rs587780786
NM_004360.4(CDH1):c.1744C>T (p.Leu582=) rs1801025
NM_004360.4(CDH1):c.2079C>T (p.Gly693=) rs771993728
NM_004360.4(CDH1):c.214G>A (p.Asp72Asn) rs35606263
NM_004360.4(CDH1):c.2322G>A (p.Arg774=) rs150734856
NM_004360.4(CDH1):c.2329G>A (p.Asp777Asn) rs372989292
NM_004360.4(CDH1):c.2439+10C>T rs35236080
NM_004360.4(CDH1):c.2520C>T (p.Ser840=) rs140328601
NM_004360.4(CDH1):c.2589C>T (p.Asn863=) rs115817750
NM_004360.4(CDH1):c.33G>C (p.Leu11=) rs730881654
NM_004360.4(CDH1):c.371G>A (p.Arg124His) rs115418995
NM_004360.4(CDH1):c.48+5C>G rs77312180
NM_004360.4(CDH1):c.49-8C>T rs774761552
NM_004360.4(CDH1):c.655delC (p.Pro219Leufs) rs1555515284
NM_004360.4(CDH1):c.671G>A (p.Arg224His) rs201511530
NM_004360.4(CDH1):c.715G>A (p.Gly239Arg) rs587780537
NM_004360.4(CDH1):c.832+9A>T rs1057521268
NM_004360.4(CDH1):c.894C>T (p.Ala298=) rs139110184
NM_004360.5(CDH1):c.1020G>A (p.Thr340=) rs61747632
NM_004360.5(CDH1):c.1137+1G>A rs876660771
NM_004360.5(CDH1):c.1138-3C>T rs36103202
NM_004360.5(CDH1):c.1224G>A (p.Ala408=) rs200161607
NM_004360.5(CDH1):c.1297G>A (p.Asp433Asn) rs199886166
NM_004360.5(CDH1):c.1298A>G (p.Asp433Gly) rs376097289
NM_004360.5(CDH1):c.1308G>A (p.Leu436=) rs557551011
NM_004360.5(CDH1):c.1409C>T (p.Thr470Ile) rs370864592
NM_004360.5(CDH1):c.1888C>G (p.Leu630Val) rs2276331
NM_004360.5(CDH1):c.2077G>A (p.Gly693Ser) rs386833398
NM_004360.5(CDH1):c.2104G>A (p.Glu702Lys) rs149127230
NM_004360.5(CDH1):c.2157T>G (p.Ala719=) rs762224244
NM_004360.5(CDH1):c.2331C>T (p.Asp777=) rs114265540
NM_004360.5(CDH1):c.2412C>T (p.Pro804=) rs202075199
NM_004360.5(CDH1):c.2413G>A (p.Asp805Asn) rs200894246
NM_004360.5(CDH1):c.2514C>T (p.Ser838=) rs770974998
NM_004360.5(CDH1):c.286A>G (p.Ile96Val) rs749306433
NM_004360.5(CDH1):c.3G>A (p.Met1Ile) rs878854691
NM_004360.5(CDH1):c.604G>A (p.Val202Ile) rs546716073
NM_004360.5(CDH1):c.699C>T (p.His233=) rs115494727
NM_004360.5(CDH1):c.867G>A (p.Ala289=) rs754143182
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr) rs139866691
NM_004360.5(CDH1):c.892G>A (p.Ala298Thr) rs142822590
NM_005359.5(SMAD4):c.1086T>C (p.Phe362=) rs1801250
NM_005359.5(SMAD4):c.1218G>A (p.Ala406=) rs145097078
NM_005359.5(SMAD4):c.1245_1248delCAGA (p.Asp415Glufs) rs80338965
NM_005359.5(SMAD4):c.1353G>A (p.Ala451=) rs1441353791
NM_005359.5(SMAD4):c.1392C>T (p.Ala464=) rs140487104
NM_005359.5(SMAD4):c.1573A>G (p.Ile525Val) rs149755320
NM_005359.5(SMAD4):c.1647A>G (p.Gln549=) rs113545983
NM_005359.5(SMAD4):c.21G>A (p.Thr7=) rs142292491
NM_005359.5(SMAD4):c.228A>G (p.Arg76=) rs587780556
NM_005359.5(SMAD4):c.354G>A (p.Ala118=) rs145988618
NM_005359.5(SMAD4):c.424+5G>A rs200772603
NM_005359.5(SMAD4):c.455-6A>G rs181178864
NM_005359.5(SMAD4):c.565C>T (p.Arg189Cys) rs140743238
NM_005359.5(SMAD4):c.582A>G (p.Thr194=) rs145805120
NM_005359.5(SMAD4):c.606C>G (p.Ala202=) rs780665234
NM_005359.5(SMAD4):c.880A>G (p.Met294Val) rs7238500
NM_005359.5(SMAD4):c.909T>G (p.Pro303=) rs141149381
NM_006231.3(POLE):c.-6G>A rs534524789
NM_006231.3(POLE):c.1007A>G (p.Asn336Ser) rs5744760
NM_006231.3(POLE):c.1021G>T (p.Ala341Ser) rs137860861
NM_006231.3(POLE):c.1106+7C>A rs369889926
NM_006231.3(POLE):c.123G>A (p.Thr41=) rs5744734
NM_006231.3(POLE):c.1242C>T (p.Asp414=) rs775213170
NM_006231.3(POLE):c.1288G>A (p.Ala430Thr) rs140566004
NM_006231.3(POLE):c.1323G>A (p.Pro441=) rs116573514
NM_006231.3(POLE):c.1347G>A (p.Thr449=) rs142373951
NM_006231.3(POLE):c.1359+9G>A rs75135381
NM_006231.3(POLE):c.1360-6C>T rs139836643
NM_006231.3(POLE):c.139C>T (p.Arg47Trp) rs143626223
NM_006231.3(POLE):c.1405C>T (p.Leu469=) rs368303888
NM_006231.3(POLE):c.1470C>T (p.Asp490=) rs5744777
NM_006231.3(POLE):c.155G>A (p.Arg52Gln) rs372459649
NM_006231.3(POLE):c.1608T>C (p.Ser536=) rs763078534
NM_006231.3(POLE):c.16G>C (p.Gly6Arg) rs202220778
NM_006231.3(POLE):c.1740C>T (p.His580=) rs114972594
NM_006231.3(POLE):c.1924-6T>C rs755311168
NM_006231.3(POLE):c.1924-6del rs758112633
NM_006231.3(POLE):c.2026+9C>T rs373790607
NM_006231.3(POLE):c.2083T>A (p.Phe695Ile) rs5744799
NM_006231.3(POLE):c.2089C>T (p.Pro697Ser) rs5744800
NM_006231.3(POLE):c.2090C>G (p.Pro697Arg) rs36120395
NM_006231.3(POLE):c.2106G>T (p.Gly702=) rs5744801
NM_006231.3(POLE):c.2172G>A (p.Ala724=) rs372240734
NM_006231.3(POLE):c.2174-8G>A rs117409343
NM_006231.3(POLE):c.2262C>T (p.Tyr754=) rs145337550
NM_006231.3(POLE):c.2271C>T (p.Thr757=) rs765532123
NM_006231.3(POLE):c.2292G>A (p.Arg764=) rs1555227097
NM_006231.3(POLE):c.2340G>A (p.Ser780=) rs5744822
NM_006231.3(POLE):c.2468+10C>T rs5744823
NM_006231.3(POLE):c.2510T>C (p.Phe837Ser) rs139182500
NM_006231.3(POLE):c.2550C>T (p.Ile850=) rs5744834
NM_006231.3(POLE):c.2561+6T>C rs116231808
NM_006231.3(POLE):c.2602C>T (p.Leu868=) rs115830215
NM_006231.3(POLE):c.2707-9G>A rs1057521516
NM_006231.3(POLE):c.2928C>T (p.Arg976=) rs5744845
NM_006231.3(POLE):c.2935C>T (p.Leu979=) rs56081968
NM_006231.3(POLE):c.2964G>A (p.Ser988=) rs200080353
NM_006231.3(POLE):c.296C>T (p.Pro99Leu) rs5744739
NM_006231.3(POLE):c.3046G>A (p.Val1016Met) rs147692158
NM_006231.3(POLE):c.3090C>T (p.Phe1030=) rs766306895
NM_006231.3(POLE):c.3126G>A (p.Lys1042=) rs5744856
NM_006231.3(POLE):c.3378+7G>T rs755370377
NM_006231.3(POLE):c.3718G>A (p.Glu1240Lys) rs113594027
NM_006231.3(POLE):c.3747G>A (p.Val1249=) rs80290414
NM_006231.3(POLE):c.3763T>C (p.Leu1255=) rs745838504
NM_006231.3(POLE):c.3851G>A (p.Arg1284Gln) rs149462407
NM_006231.3(POLE):c.3881G>A (p.Arg1294His) rs115455318
NM_006231.3(POLE):c.4047G>A (p.Ala1349=) rs201746181
NM_006231.3(POLE):c.4057A>G (p.Ser1353Gly) rs141619382
NM_006231.3(POLE):c.4184A>G (p.Tyr1395Cys) rs5744933
NM_006231.3(POLE):c.4236C>T (p.Asn1412=) rs377245595
NM_006231.3(POLE):c.4246G>A (p.Ala1416Thr) rs146711942
NM_006231.3(POLE):c.4259C>T (p.Ala1420Val) rs41561818
NM_006231.3(POLE):c.4290+5C>T rs5744936
NM_006231.3(POLE):c.4494G>A (p.Ala1498=) rs777611171
NM_006231.3(POLE):c.4523G>A (p.Arg1508His) rs142508245
NM_006231.3(POLE):c.4534G>A (p.Val1512Ile) rs147354120
NM_006231.3(POLE):c.461G>A (p.Arg154Lys) rs769882912
NM_006231.3(POLE):c.4645C>G (p.Pro1549Ala) rs147500308
NM_006231.3(POLE):c.4719C>T (p.Leu1573=) rs115219846
NM_006231.3(POLE):c.4730A>C (p.Glu1577Ala) rs5744948
NM_006231.3(POLE):c.4731G>A (p.Glu1577=) rs772361606
NM_006231.3(POLE):c.4941C>T (p.Phe1647=) rs145639967
NM_006231.3(POLE):c.5124C>T (p.Phe1708=) rs114891564
NM_006231.3(POLE):c.5135C>T (p.Ala1712Val) rs5744950
NM_006231.3(POLE):c.51C>G (p.Gly17=) rs780436496
NM_006231.3(POLE):c.5334C>T (p.Ala1778=) rs11146986
NM_006231.3(POLE):c.546C>T (p.His182=) rs115257501
NM_006231.3(POLE):c.5478G>T (p.Arg1826=) rs537648186
NM_006231.3(POLE):c.5496T>C (p.Leu1832=) rs147543146
NM_006231.3(POLE):c.5570A>G (p.Lys1857Arg) rs5744971
NM_006231.3(POLE):c.5583A>C (p.Ser1861=) rs5744972
NM_006231.3(POLE):c.561C>T (p.Tyr187=) rs143938822
NM_006231.3(POLE):c.5659G>A (p.Val1887Met) rs114119067
NM_006231.3(POLE):c.5678+4C>T rs5744973
NM_006231.3(POLE):c.5769C>T (p.Gly1923=) rs375198950
NM_006231.3(POLE):c.5804G>A (p.Cys1935Tyr) rs5744991
NM_006231.3(POLE):c.5912A>G (p.Asn1971Ser) rs772127913
NM_006231.3(POLE):c.6271C>T (p.Pro2091Ser) rs572252265
NM_006231.3(POLE):c.6331-8C>T rs769766403
NM_006231.3(POLE):c.6405C>T (p.Val2135=) rs139607077
NM_006231.3(POLE):c.6418G>A (p.Glu2140Lys) rs5745066
NM_006231.3(POLE):c.6453C>T (p.Tyr2151=) rs116076060
NM_006231.3(POLE):c.6494G>A (p.Arg2165His) rs5745068
NM_006231.3(POLE):c.6495C>T (p.Arg2165=) rs114778730
NM_006231.3(POLE):c.6531+6G>T rs774747998
NM_006231.3(POLE):c.6658-7C>A rs531482240
NM_006231.3(POLE):c.6675C>T (p.Arg2225=) rs149973644
NM_006231.3(POLE):c.6716C>T (p.Ala2239Val) rs190813054
NM_006231.3(POLE):c.6763A>T (p.Ile2255Phe) rs73155056
NM_006231.3(POLE):c.6766G>A (p.Gly2256Arg) rs116323660
NM_006231.3(POLE):c.6777G>C (p.Arg2259=) rs540203276
NM_006231.3(POLE):c.6777G>T (p.Arg2259=) rs540203276
NM_006231.3(POLE):c.6795C>T (p.Tyr2265=) rs142222159
NM_006231.3(POLE):c.6817A>T (p.Thr2273Ser) rs73481453
NM_006231.3(POLE):c.6820C>G (p.Leu2274Val) rs148788180
NM_006231.3(POLE):c.776G>A (p.Arg259His) rs61732929
NM_006231.3(POLE):c.779G>A (p.Arg260Gln) rs5744752
NM_006231.3(POLE):c.844C>T (p.Pro282Ser) rs138207610
NM_006231.3(POLE):c.846C>T (p.Pro282=) rs5744758
NM_006231.3(POLE):c.84A>T (p.Ser28=) rs774280853
NM_006231.3(POLE):c.861T>A (p.Asp287Glu) rs139075637
NM_006231.3(POLE):c.912C>T (p.Gly304=) rs1064794932
NM_006231.3(POLE):c.91G>T (p.Ala31Ser) rs34047482
NM_006231.3(POLE):c.940T>G (p.Ser314Ala) rs770403791
NM_006231.3(POLE):c.942A>C (p.Ser314=) rs548933169
NM_007194.3(CHEK2):c.1100delC (p.Thr367Metfs) rs555607708
NM_007194.3(CHEK2):c.1263delT (p.Ser422Valfs) rs587780174
NM_007194.3(CHEK2):c.1337delA (p.Asn446Thrfs) rs876659639
NM_007194.3(CHEK2):c.246_260delCCAAGAACCTGAGGA (p.Asp82_Glu86del) rs587780181
NM_007194.3(CHEK2):c.483_485delAGA (p.Glu161del) rs587782008
NM_007194.3(CHEK2):c.591delA (p.Val198Phefs) rs587782245
NM_007194.3(CHEK2):c.846+4_846+7delAGTA rs764884641
NM_007194.4(CHEK2):c.1176G>A (p.Ala392=) rs142692907
NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys) rs587780171
NM_007194.4(CHEK2):c.1259+8A>G rs368388249
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) rs139366548
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011
NM_007194.4(CHEK2):c.1287G>A (p.Glu429=) rs758102180
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883
NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser) rs17886163
NM_007194.4(CHEK2):c.1407G>A (p.Val469=) rs17881378
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys) rs540635787
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740
NM_007194.4(CHEK2):c.1497G>C (p.Leu499=) rs587780890
NM_007194.4(CHEK2):c.1501G>A (p.Glu501Lys) rs17883172
NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln) rs587782489
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser) rs587780179
NM_007194.4(CHEK2):c.1526C>T (p.Pro509Leu) rs587782541
NM_007194.4(CHEK2):c.1566C>T (p.Pro522=) rs202104749
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu) rs17883862
NM_007194.4(CHEK2):c.320-5T>A rs121908700
NM_007194.4(CHEK2):c.335A>G (p.Asn112Ser) rs876660788
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982
NM_007194.4(CHEK2):c.444+1G>A rs121908698
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg) rs72552322
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) rs121908701
NM_007194.4(CHEK2):c.556A>C (p.Asn186His) rs146198085
NM_007194.4(CHEK2):c.592+3A>T rs587782849
NM_007194.4(CHEK2):c.683+1G>T rs786203650
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys) rs121908702
NM_007294.3(BRCA1):c.1008A>G (p.Thr336=) rs1060504568
NM_007294.3(BRCA1):c.1011A>G (p.Glu337=) rs1555592670
NM_007294.3(BRCA1):c.1026G>A (p.Leu342=) rs1171571879
NM_007294.3(BRCA1):c.115T>A (p.Cys39Ser) rs80357164
NM_007294.3(BRCA1):c.122A>G (p.His41Arg) rs80357276
NM_007294.3(BRCA1):c.122A>T (p.His41Leu) rs80357276
NM_007294.3(BRCA1):c.1233T>G (p.Asp411Glu) rs80357024
NM_007294.3(BRCA1):c.1242C>T (p.Asp414=) rs372400428
NM_007294.3(BRCA1):c.1243G>A (p.Val415Ile) rs587782770
NM_007294.3(BRCA1):c.130T>A (p.Cys44Ser) rs80357327
NM_007294.3(BRCA1):c.131G>T (p.Cys44Phe) rs80357446
NM_007294.3(BRCA1):c.134+2T>C rs80358131
NM_007294.3(BRCA1):c.1392C>T (p.Thr464=) rs533802049
NM_007294.3(BRCA1):c.1405G>A (p.Ala469Thr) rs397507187
NM_007294.3(BRCA1):c.140G>T (p.Cys47Phe) rs80357150
NM_007294.3(BRCA1):c.1427A>G (p.His476Arg) rs55720177
NM_007294.3(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931
NM_007294.3(BRCA1):c.1504_1508delTTAAA (p.Leu502Alafs) rs80357888
NM_007294.3(BRCA1):c.1534C>T (p.Leu512Phe) rs41286294
NM_007294.3(BRCA1):c.1561G>A (p.Ala521Thr) rs80357122
NM_007294.3(BRCA1):c.1616C>T (p.Thr539Met) rs80357374
NM_007294.3(BRCA1):c.1617G>A (p.Thr539=) rs372002119
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.1723dup (p.Glu575Glyfs) rs1555591335
NM_007294.3(BRCA1):c.1731A>G (p.Glu577=) rs28897678
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.1842G>A (p.Lys614=) rs760109939
NM_007294.3(BRCA1):c.1846_1848delTCT (p.Ser616del) rs80358329
NM_007294.3(BRCA1):c.1866G>A (p.Ala622=) rs1800064
NM_007294.3(BRCA1):c.1905T>C (p.Asn635=) rs369373293
NM_007294.3(BRCA1):c.190T>G (p.Cys64Gly) rs80357064
NM_007294.3(BRCA1):c.191G>A (p.Cys64Tyr) rs55851803
NM_007294.3(BRCA1):c.1961delA (p.Lys654Serfs) rs80357522
NM_007294.3(BRCA1):c.19C>T (p.Arg7Cys) rs80356994
NM_007294.3(BRCA1):c.2043dupT (p.Asn682Terfs) rs863224510
NM_007294.3(BRCA1):c.2123C>T (p.Ser708Phe) rs80357182
NM_007294.3(BRCA1):c.2252T>C (p.Met751Thr) rs587781684
NM_007294.3(BRCA1):c.2268G>C (p.Arg756Ser) rs80356884
NM_007294.3(BRCA1):c.2346dupT (p.Ile783Tyrfs) rs886040027
NM_007294.3(BRCA1):c.2347A>G (p.Ile783Val) rs80356948
NM_007294.3(BRCA1):c.2412G>C (p.Gln804His) rs55746541
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.2481A>G (p.Glu827=) rs397508970
NM_007294.3(BRCA1):c.2483_2485delGCT (p.Gly828_Phe829delinsVal) rs80358331
NM_007294.3(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709
NM_007294.3(BRCA1):c.2525A>G (p.Glu842Gly) rs28897684
NM_007294.3(BRCA1):c.2584A>G (p.Lys862Glu) rs80356927
NM_007294.3(BRCA1):c.2612C>G (p.Pro871Arg) rs799917
NM_007294.3(BRCA1):c.2634A>G (p.Ala878=) rs730881451
NM_007294.3(BRCA1):c.2666C>T (p.Ser889Phe) rs769712441
NM_007294.3(BRCA1):c.2668G>A (p.Gly890Arg) rs80357200
NM_007294.3(BRCA1):c.2679_2682delGAAA (p.Lys893Asnfs) rs80357596
NM_007294.3(BRCA1):c.2706_2707dupAT (p.Cys903Tyrfs) rs80357717
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.2783G>A (p.Gly928Asp) rs202004680
NM_007294.3(BRCA1):c.2809A>T (p.Lys937Ter) rs1555588915
NM_007294.3(BRCA1):c.2884G>A (p.Glu962Lys) rs80356955
NM_007294.3(BRCA1):c.2910A>C (p.Lys970Asn) rs431825394
NM_007294.3(BRCA1):c.2931A>G (p.Pro977=) rs273899691
NM_007294.3(BRCA1):c.2998_3003delGAGGAA (p.Glu1000_Glu1001del) rs80358333
NM_007294.3(BRCA1):c.301+1G>A rs587782173
NM_007294.3(BRCA1):c.301+2dupT rs273899694
NM_007294.3(BRCA1):c.301+7G>A rs80358113
NM_007294.3(BRCA1):c.301+8T>C rs80358101
NM_007294.3(BRCA1):c.3012G>A (p.Glu1004=) rs786201784
NM_007294.3(BRCA1):c.3093T>A (p.Ile1031=) rs786204265
NM_007294.3(BRCA1):c.3228_3229delAG (p.Gly1077Alafs) rs80357635
NM_007294.3(BRCA1):c.3285delA (p.Lys1095Asnfs) rs397509051
NM_007294.3(BRCA1):c.3328_3330delAAG (p.Lys1110del) rs80358335
NM_007294.3(BRCA1):c.3351dupT (p.Gln1118Serfs) rs80357785
NM_007294.3(BRCA1):c.3362A>G (p.Asn1121Ser) rs80356919
NM_007294.3(BRCA1):c.3410T>C (p.Met1137Thr) rs80357297
NM_007294.3(BRCA1):c.3454G>A (p.Asp1152Asn) rs80357175
NM_007294.3(BRCA1):c.346delG (p.Glu116Asnfs) rs762635795
NM_007294.3(BRCA1):c.3600G>T (p.Gln1200His) rs56214134
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.366T>G (p.Val122=) rs190900046
NM_007294.3(BRCA1):c.3675C>A (p.Cys1225Ter) rs879254023
NM_007294.3(BRCA1):c.3691T>C (p.Phe1231Leu) rs41293451
NM_007294.3(BRCA1):c.3699A>G (p.Lys1233=) rs368690455
NM_007294.3(BRCA1):c.3705_3747dup (p.Glu1250Glnfs) rs797044631
NM_007294.3(BRCA1):c.3711A>G (p.Ile1237Met) rs80357388
NM_007294.3(BRCA1):c.3747C>T (p.Thr1249=) rs587780801
NM_007294.3(BRCA1):c.3756_3759delGTCT (p.Ser1253Argfs) rs80357868
NM_007294.3(BRCA1):c.3776A>C (p.Asn1259Thr) rs483353090
NM_007294.3(BRCA1):c.378A>G (p.Gln126=) rs786201256
NM_007294.3(BRCA1):c.3804T>C (p.Asn1268=) rs140588714
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.3895C>T (p.Gln1299Ter) rs80357038
NM_007294.3(BRCA1):c.3929C>A (p.Thr1310Lys) rs80357257
NM_007294.3(BRCA1):c.396C>A (p.Asn132Lys) rs80357413
NM_007294.3(BRCA1):c.4063_4065delAAT (p.Asn1355del) rs80358341
NM_007294.3(BRCA1):c.4065_4068delTCAA (p.Asn1355Lysfs) rs80357508
NM_007294.3(BRCA1):c.4096+1G>A rs80358178
NM_007294.3(BRCA1):c.4097-10G>A rs80358057
NM_007294.3(BRCA1):c.4097-7A>G rs80358007
NM_007294.3(BRCA1):c.4127C>G (p.Thr1376Arg) rs80356986
NM_007294.3(BRCA1):c.4146C>A (p.Cys1382Ter) rs1057517574
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.4185+10G>A rs80358104
NM_007294.3(BRCA1):c.4185+2_4185+22del21insA rs273900724
NM_007294.3(BRCA1):c.4185+9C>T rs80358034
NM_007294.3(BRCA1):c.4186-10G>A rs80358172
NM_007294.3(BRCA1):c.4209C>T (p.Asn1403=) rs786201224
NM_007294.3(BRCA1):c.4245A>G (p.Glu1415=) rs41293453
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.426C>T (p.Pro142=) rs542687218
NM_007294.3(BRCA1):c.42C>T (p.Val14=) rs80356827
NM_007294.3(BRCA1):c.4332T>C (p.Asn1444=) rs752824502
NM_007294.3(BRCA1):c.4386dupA (p.Tyr1463Ilefs) rs786204267
NM_007294.3(BRCA1):c.4402A>C (p.Asn1468His) rs80357022
NM_007294.3(BRCA1):c.4419T>A (p.Ser1473=) rs730881455
NM_007294.3(BRCA1):c.441G>C (p.Leu147Phe) rs748876625
NM_007294.3(BRCA1):c.4484G>A (p.Arg1495Lys) rs80357389
NM_007294.3(BRCA1):c.4485-1G>A rs80358189
NM_007294.3(BRCA1):c.4485-8C>T rs397507234
NM_007294.3(BRCA1):c.4532dup (p.His1511Glnfs) rs1555582009
NM_007294.3(BRCA1):c.4585A>G (p.Ile1529Val) rs80357095
NM_007294.3(BRCA1):c.4610A>G (p.Gln1537Arg) rs70953659
NM_007294.3(BRCA1):c.4625C>G (p.Ser1542Cys) rs41293457
NM_007294.3(BRCA1):c.4635C>T (p.His1545=) rs373686790
NM_007294.3(BRCA1):c.463C>G (p.Gln155Glu) rs80357180
NM_007294.3(BRCA1):c.4654T>C (p.Tyr1552His) rs1265352633
NM_007294.3(BRCA1):c.4675+1G>A rs80358044
NM_007294.3(BRCA1):c.4729T>C (p.Ser1577Pro) rs80356909
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.4837A>T (p.Ser1613Cys) rs1799966
NM_007294.3(BRCA1):c.4837_4838delAGinsGCC (p.Ser1613Alafs) rs730880287
NM_007294.3(BRCA1):c.4862_4871del10 (p.Asp1621Glyfs) rs1555580773
NM_007294.3(BRCA1):c.4868C>G (p.Ala1623Gly) rs80356862
NM_007294.3(BRCA1):c.4976del (p.Pro1659Glnfs) rs879255295
NM_007294.3(BRCA1):c.4986+3G>C rs80358023
NM_007294.3(BRCA1):c.4986+4A>C rs80358087
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.5022C>T (p.Ile1674=) rs786203868
NM_007294.3(BRCA1):c.5024C>T (p.Thr1675Ile) rs150729791
NM_007294.3(BRCA1):c.5050_5051delAC (p.Thr1684Tyrfs) rs879255283
NM_007294.3(BRCA1):c.5072C>T (p.Thr1691Ile) rs80357034
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.5100A>G (p.Thr1700=) rs45519437
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.5144G>A (p.Ser1715Asn) rs45444999
NM_007294.3(BRCA1):c.5153-1G>C rs80358137
NM_007294.3(BRCA1):c.5153-6C>A rs80358129
NM_007294.3(BRCA1):c.5157G>T (p.Val1719=) rs28897697
NM_007294.3(BRCA1):c.5165C>T (p.Ser1722Phe) rs80357104
NM_007294.3(BRCA1):c.5175A>G (p.Glu1725=) rs191373374
NM_007294.3(BRCA1):c.5189A>G (p.Asn1730Ser) rs80357171
NM_007294.3(BRCA1):c.5198A>G (p.Asp1733Gly) rs80357270
NM_007294.3(BRCA1):c.5207T>C (p.Val1736Ala) rs45553935
NM_007294.3(BRCA1):c.5216A>T (p.Asp1739Val) rs80357227
NM_007294.3(BRCA1):c.5243G>A (p.Gly1748Asp) rs397509243
NM_007294.3(BRCA1):c.5252G>A (p.Arg1751Gln) rs80357442
NM_007294.3(BRCA1):c.5258G>C (p.Arg1753Thr) rs397509246
NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) rs397507247
NM_007294.3(BRCA1):c.5277+1delG rs273901754
NM_007294.3(BRCA1):c.528G>A (p.Thr176=) rs34545365
NM_007294.3(BRCA1):c.5304C>T (p.Cys1768=) rs138493864
NM_007294.3(BRCA1):c.5324T>G (p.Met1775Arg) rs41293463
NM_007294.3(BRCA1):c.5328C>T (p.Pro1776=) rs759867616
NM_007294.3(BRCA1):c.5333-1G>A rs80358126
NM_007294.3(BRCA1):c.5333A>G (p.Asp1778Gly) rs80357041
NM_007294.3(BRCA1):c.5347A>C (p.Met1783Leu) rs80357012
NM_007294.3(BRCA1):c.5406+4A>G rs397509279
NM_007294.3(BRCA1):c.5406A>C (p.Thr1802=) rs879255493
NM_007294.3(BRCA1):c.5411T>A (p.Val1804Asp) rs80356920
NM_007294.3(BRCA1):c.5412C>T (p.Val1804=) rs730881456
NM_007294.3(BRCA1):c.5467+1G>A rs80358145
NM_007294.3(BRCA1):c.5467+8G>A rs80358062
NM_007294.3(BRCA1):c.547+2T>A rs80358047
NM_007294.3(BRCA1):c.5483delG (p.Cys1828Leufs) rs397509288
NM_007294.3(BRCA1):c.5497G>A (p.Val1833Met) rs80357268
NM_007294.3(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465
NM_007294.3(BRCA1):c.5514G>T (p.Val1838=) rs786201248
NM_007294.3(BRCA1):c.5524_5531delGTAGCACT (p.Val1842Leufs) rs879255287
NM_007294.3(BRCA1):c.5572A>C (p.Ile1858Leu) rs765656957
NM_007294.3(BRCA1):c.5573T>C (p.Ile1858Thr) rs755427809
NM_007294.3(BRCA1):c.564A>G (p.Glu188=) rs768065826
NM_007294.3(BRCA1):c.593+9A>G rs80358133
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.661G>T (p.Ala221Ser) rs80357088
NM_007294.3(BRCA1):c.688G>T (p.Glu230Ter) rs1555593310
NM_007294.3(BRCA1):c.68_69delAG (p.Glu23Valfs) rs386833395
NM_007294.3(BRCA1):c.693G>A (p.Thr231=) rs62625298
NM_007294.3(BRCA1):c.694G>A (p.Asp232Asn) rs55975699
NM_007294.3(BRCA1):c.699A>G (p.Val233=) rs786202162
NM_007294.3(BRCA1):c.715delC (p.His239Ilefs) rs879255294
NM_007294.3(BRCA1):c.742A>C (p.Thr248Pro) rs879255288
NM_007294.3(BRCA1):c.768G>A (p.Arg256=) rs746067447
NM_007294.3(BRCA1):c.795T>C (p.Ser265=) rs201441987
NM_007294.3(BRCA1):c.807G>A (p.Leu269=) rs149867679
NM_007294.3(BRCA1):c.81-6T>C rs80358179
NM_007294.3(BRCA1):c.811G>A (p.Val271Met) rs80357244
NM_007294.3(BRCA1):c.81T>C (p.Cys27=) rs587780805
NM_007294.3(BRCA1):c.828A>G (p.Thr276=) rs186274774
NM_007294.3(BRCA1):c.837T>C (p.His279=) rs775477245
NM_007294.3(BRCA1):c.839C>G (p.Ala280Gly) rs80357199
NM_007294.3(BRCA1):c.964_968delGCTGG (p.Ala322Lysfs) rs1555592744
NM_007294.3(BRCA1):c.987T>C (p.Asn329=) rs774849810
NM_007294.3(BRCA1):c.996G>T (p.Arg332=) rs80356836
NM_007299.3(BRCA1):c.787+11_787+12delTT rs80357724
NM_024675.3(PALB2):c.1001A>G (p.Tyr334Cys) rs200620434
NM_024675.3(PALB2):c.1054G>C (p.Glu352Gln) rs201035780
NM_024675.3(PALB2):c.1194G>A (p.Val398=) rs61755173
NM_024675.3(PALB2):c.1227T>C (p.Tyr409=) rs1555461386
NM_024675.3(PALB2):c.1470C>T (p.Pro490=) rs45612837
NM_024675.3(PALB2):c.1492G>T (p.Asp498Tyr) rs75023630
NM_024675.3(PALB2):c.149A>C (p.Lys50Thr) rs763598472
NM_024675.3(PALB2):c.1544A>G (p.Lys515Arg) rs515726072
NM_024675.3(PALB2):c.1572A>G (p.Ser524=) rs45472400
NM_024675.3(PALB2):c.1606C>T (p.Leu536=) rs151162255
NM_024675.3(PALB2):c.1623G>A (p.Arg541=) rs745665968
NM_024675.3(PALB2):c.1641C>T (p.Thr547=) rs564514783
NM_024675.3(PALB2):c.172_175delTTGT (p.Gln60Argfs) rs180177143
NM_024675.3(PALB2):c.1794G>A (p.Leu598=) rs182494675
NM_024675.3(PALB2):c.1810C>T (p.Leu604=) rs144015319
NM_024675.3(PALB2):c.1881G>T (p.Val627=) rs139362268
NM_024675.3(PALB2):c.194C>T (p.Pro65Leu) rs62625272
NM_024675.3(PALB2):c.195G>A (p.Pro65=) rs751176316
NM_024675.3(PALB2):c.196C>T (p.Gln66Ter) rs180177083
NM_024675.3(PALB2):c.2027T>C (p.Ile676Thr) rs200875161
NM_024675.3(PALB2):c.2135C>T (p.Ala712Val) rs141458731
NM_024675.3(PALB2):c.2244A>G (p.Thr748=) rs750048627
NM_024675.3(PALB2):c.2256A>G (p.Gly752=) rs147120218
NM_024675.3(PALB2):c.226delA (p.Ile76Tyrfs) rs587782443
NM_024675.3(PALB2):c.232G>A (p.Val78Ile) rs515726085
NM_024675.3(PALB2):c.2365C>T (p.Leu789=) rs145805054
NM_024675.3(PALB2):c.2368C>T (p.Gln790Ter) rs886039480
NM_024675.3(PALB2):c.2386G>T (p.Gly796Ter) rs180177112
NM_024675.3(PALB2):c.2411_2412delCT (p.Ser804Cysfs) rs747148023
NM_024675.3(PALB2):c.2442G>A (p.Glu814=) rs140776736
NM_024675.3(PALB2):c.2481A>T (p.Thr827=) rs876658885
NM_024675.3(PALB2):c.2506G>A (p.Val836Ile) rs536644825
NM_024675.3(PALB2):c.2586+10A>G rs373321719
NM_024675.3(PALB2):c.2590C>T (p.Pro864Ser) rs45568339
NM_024675.3(PALB2):c.2674G>A (p.Glu892Lys) rs45476495
NM_024675.3(PALB2):c.2742C>T (p.Phe914=) rs115759702
NM_024675.3(PALB2):c.2816T>G (p.Leu939Trp) rs45478192
NM_024675.3(PALB2):c.2851T>C (p.Ser951Pro) rs149522412
NM_024675.3(PALB2):c.2897T>C (p.Ile966Thr) rs587780214
NM_024675.3(PALB2):c.2964A>G (p.Gln988=) rs777244673
NM_024675.3(PALB2):c.298C>T (p.Leu100Phe) rs61756147
NM_024675.3(PALB2):c.2996+9delA rs769414858
NM_024675.3(PALB2):c.3113G>A (p.Trp1038Ter) rs180177132
NM_024675.3(PALB2):c.3249G>C (p.Glu1083Asp) rs147045425
NM_024675.3(PALB2):c.3251C>T (p.Ser1084Leu) rs62625271
NM_024675.3(PALB2):c.3252G>A (p.Ser1084=) rs141570833
NM_024675.3(PALB2):c.3257G>A (p.Arg1086Gln) rs146377793
NM_024675.3(PALB2):c.3286_3289delAACCinsGTTAATGA (p.Asn1096Valfs) rs587782337
NM_024675.3(PALB2):c.3307G>A (p.Val1103Met) rs201657283
NM_024675.3(PALB2):c.3362delG (p.Gly1121Valfs) rs515726117
NM_024675.3(PALB2):c.3426_3429delACTT (p.Leu1142Phefs) rs587776424
NM_024675.3(PALB2):c.3428T>A (p.Leu1143His) rs62625284
NM_024675.3(PALB2):c.344G>T (p.Gly115Val) rs145598272
NM_024675.3(PALB2):c.3495G>A (p.Ser1165=) rs45439097
NM_024675.3(PALB2):c.3G>A (p.Met1Ile) rs1057517585
NM_024675.3(PALB2):c.400G>A (p.Asp134Asn) rs139555085
NM_024675.3(PALB2):c.62T>G (p.Leu21Ter) rs769240800
NM_024675.3(PALB2):c.721A>G (p.Asn241Asp) rs113217267
NM_024675.3(PALB2):c.758dupT (p.Ser254Ilefs) rs515726126
NM_024675.3(PALB2):c.765T>C (p.Asp255=) rs45465299
NM_024675.3(PALB2):c.94C>G (p.Leu32Val) rs151316635
NM_024675.3(PALB2):c.950C>T (p.Thr317Ile) rs45548638
NM_031885.3(BBS2):c.1770delT (p.Phe590Leufs) rs193922711
NM_032043.2(BRIP1):c.-6A>C rs1442433909
NM_032043.2(BRIP1):c.1340+9A>T rs376487588
NM_032043.2(BRIP1):c.139C>G (p.Pro47Ala) rs28903098
NM_032043.2(BRIP1):c.1433A>G (p.His478Arg) rs45501097
NM_032043.2(BRIP1):c.1629-3T>C rs587780828
NM_032043.2(BRIP1):c.1735C>T (p.Arg579Cys) rs28997571
NM_032043.2(BRIP1):c.1890A>G (p.Thr630=) rs145796331
NM_032043.2(BRIP1):c.1935+7T>C rs201024366
NM_032043.2(BRIP1):c.195A>G (p.Gln65=) rs141436143
NM_032043.2(BRIP1):c.2038_2039dupTT (p.Leu680Phefs) rs587778134
NM_032043.2(BRIP1):c.2061G>C (p.Val687=) rs112414873
NM_032043.2(BRIP1):c.2097+7G>A rs4988352
NM_032043.2(BRIP1):c.2220G>T (p.Gln740His) rs45589637
NM_032043.2(BRIP1):c.2236A>G (p.Ile746Val) rs111536363
NM_032043.2(BRIP1):c.2286T>C (p.Arg762=) rs61754141
NM_032043.2(BRIP1):c.2310T>C (p.Asp770=) rs148752066
NM_032043.2(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986
NM_032043.2(BRIP1):c.2472C>T (p.Ala824=) rs767666616
NM_032043.2(BRIP1):c.2686A>G (p.Ile896Val) rs764406913
NM_032043.2(BRIP1):c.2706A>G (p.Ile902Met) rs587780244
NM_032043.2(BRIP1):c.2765T>G (p.Leu922Ter) rs587782410
NM_032043.2(BRIP1):c.2937A>G (p.Lys979=) rs75091137
NM_032043.2(BRIP1):c.297C>T (p.Asp99=) rs201617644
NM_032043.2(BRIP1):c.3009A>G (p.Ser1003=) rs751823379
NM_032043.2(BRIP1):c.3099T>C (p.Pro1033=) rs202228407
NM_032043.2(BRIP1):c.312T>G (p.Thr104=) rs769190318
NM_032043.2(BRIP1):c.3149C>A (p.Thr1050Asn) rs373040333
NM_032043.2(BRIP1):c.3459T>C (p.Asp1153=) rs4987050
NM_032043.2(BRIP1):c.387T>C (p.Pro129=) rs779324498
NM_032043.2(BRIP1):c.408A>C (p.Ala136=) rs876660891
NM_032043.2(BRIP1):c.430G>A (p.Ala144Thr) rs116952709
NM_032043.2(BRIP1):c.477_481delAAGAA (p.Lys159Asnfs) rs1555616143
NM_032043.2(BRIP1):c.517C>T (p.Arg173Cys) rs4988345
NM_032043.2(BRIP1):c.577G>A (p.Val193Ile) rs4988346
NM_032043.2(BRIP1):c.584T>C (p.Leu195Pro) rs4988347
NM_032043.2(BRIP1):c.617C>T (p.Ser206Leu) rs565458815
NM_032043.2(BRIP1):c.636C>A (p.Gly212=) rs1057520255
NM_032043.2(BRIP1):c.702G>A (p.Lys234=) rs45512798
NM_032043.2(BRIP1):c.728T>C (p.Ile243Thr) rs587781860
NM_032043.2(BRIP1):c.852C>T (p.Val284=) rs144940449
NM_032043.2(BRIP1):c.854A>G (p.His285Arg) rs141055990
NM_032043.2(BRIP1):c.890A>G (p.Lys297Arg) rs28997570
NM_032043.2(BRIP1):c.890delA (p.Lys297Serfs) rs786202610
NM_032043.2(BRIP1):c.918+1G>A rs587781655
NM_058195.3(CDKN2A):c.194-4G>C rs529380972
NM_058216.2(RAD51C):c.134A>G (p.Glu45Gly) rs587781383
NM_058216.2(RAD51C):c.146-8A>G rs201079501
NM_058216.2(RAD51C):c.186A>G (p.Gln62=) rs28363303
NM_058216.2(RAD51C):c.195A>G (p.Arg65=) rs45511291
NM_058216.2(RAD51C):c.258A>T (p.Thr86=) rs149228565
NM_058216.2(RAD51C):c.376G>A (p.Ala126Thr) rs61758784
NM_058216.2(RAD51C):c.404+2T>C rs730881931
NM_058216.2(RAD51C):c.572-?_705+?del (p.(?))
NM_058216.2(RAD51C):c.656T>C (p.Leu219Ser) rs201529791
NM_058216.2(RAD51C):c.773G>A (p.Arg258His) rs267606997
NM_058216.2(RAD51C):c.790G>A (p.Gly264Ser) rs147241704
NM_058216.2(RAD51C):c.859A>G (p.Thr287Ala) rs28363317
NM_058216.2(RAD51C):c.90G>A (p.Ala30=) rs115414895
NM_058216.3(RAD51C):c.-7G>C
NM_174936.3(PCSK9):c.1326C>T (p.Ala442=) rs28362262
NM_174936.3(PCSK9):c.1327G>A (p.Ala443Thr) rs28362263
NM_174936.3(PCSK9):c.141C>T (p.Ser47=) rs28385701
NM_174936.3(PCSK9):c.1856A>C (p.Gln619Pro) rs28362277
NM_174936.3(PCSK9):c.705C>T (p.Ser235=) rs7552471
NM_174936.3(PCSK9):c.720C>T (p.Gly240=) rs41297883

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