ClinVar Miner

Variants from Color Diagnostics, LLC DBA Color Health with conflicting interpretations

Location: United States  Primary collection method: clinical testing
Minimum review status of the submission from Color Diagnostics, LLC DBA Color Health: Collection method of the submission from Color Diagnostics, LLC DBA Color Health:
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 per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
23069 21932 0 2167 5595 18 484 7919

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
Color Diagnostics, LLC DBA Color Health pathogenic likely pathogenic uncertain significance likely benign benign drug response established risk allele risk factor other
pathogenic 0 240 26 6 0 7 2 5 0
likely pathogenic 338 0 105 5 0 4 0 0 0
uncertain significance 100 245 0 4084 173 0 1 0 0
likely benign 16 15 1205 0 761 0 0 0 0
benign 7 4 162 836 0 0 0 0 1
established risk allele 1 1 1 0 0 0 0 1 0

Submitter to submitter summary #

Total submitters: 152
Download table as spreadsheet
Submitter Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
Ambry Genetics 0 20608 0 934 2840 3 211 3988
University of Washington Department of Laboratory Medicine, University of Washington 0 234 0 57 1838 0 3 1898
Sema4, Sema4 0 3173 0 438 509 1 9 957
Labcorp Genetics (formerly Invitae), Labcorp 0 1330 0 178 126 1 46 351
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 1132 0 184 145 0 19 348
Illumina Laboratory Services, Illumina 0 240 0 136 136 0 3 275
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. 0 338 0 132 75 1 2 210
True Health Diagnostics 0 228 0 155 41 1 1 198
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 106 0 70 11 0 70 151
LDLR-LOVD, British Heart Foundation 0 149 0 76 33 0 36 145
GeneKor MSA 0 184 0 18 84 1 5 108
Robarts Research Institute, Western University 0 64 0 77 16 0 7 100
Genome-Nilou Lab 0 479 0 58 23 0 4 85
GeneDx 0 170 0 57 16 0 4 77
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 45 0 39 7 0 30 76
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 52 0 16 37 0 15 68
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge 0 73 0 20 35 0 11 66
Fulgent Genetics, Fulgent Genetics 0 224 0 29 26 0 6 61
Natera, Inc. 0 167 0 28 17 0 4 49
Mendelics 0 50 0 32 14 0 2 48
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel 0 126 0 16 19 0 11 46
Fundacion Hipercolesterolemia Familiar 0 47 0 20 9 0 16 45
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 158 0 21 8 0 14 43
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation 0 25 0 30 4 0 9 43
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 66 0 18 2 0 20 40
Revvity Omics, Revvity 0 107 0 16 16 0 4 36
CeGaT Center for Human Genetics Tuebingen 0 74 0 25 8 0 2 35
PreventionGenetics, part of Exact Sciences 0 165 0 19 12 0 3 34
Iberoamerican FH Network 0 32 0 13 7 0 10 30
Breakthrough Genomics, Breakthrough Genomics 0 78 0 27 1 0 0 28
Eurofins Ntd Llc (ga) 0 74 0 6 19 0 1 26
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 13 0 24 1 0 0 25
Vantari Genetics 0 44 0 15 8 0 0 23
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia 0 43 0 17 0 0 6 23
Genetic Services Laboratory, University of Chicago 0 67 0 11 10 0 1 22
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 24 0 8 13 0 1 22
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 45 0 5 5 0 10 20
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 56 0 5 8 0 4 17
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 52 0 13 3 0 1 17
Athena Diagnostics 0 72 0 9 6 0 1 16
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 54 0 7 3 0 6 16
Institute of Human Genetics, University of Leipzig Medical Center 0 37 0 7 3 0 6 16
Cardiovascular Biomarker Research Laboratory, Mayo Clinic 0 9 0 9 5 0 1 15
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 14 0 0 14
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 47 0 12 0 0 1 13
Institute for Integrative and Experimental Genomics, University of Luebeck 0 2 0 8 0 0 5 13
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II 0 16 0 12 0 0 1 13
GENinCode PLC 0 70 0 13 0 0 0 13
CSER _CC_NCGL, University of Washington 0 15 0 5 6 0 1 12
All of Us Research Program, National Institutes of Health 0 2542 0 4 6 0 2 12
OMIM 0 33 0 2 2 5 2 11
PharmGKB 0 0 0 0 0 11 0 11
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 34 0 7 4 0 0 11
Spanish ATM Cancer Susceptibility Variant Interpretation Working Group 0 30 0 5 5 0 1 11
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 21 0 2 8 0 0 10
Color Diagnostics, LLC DBA Color Health 52905 5 0 8 2 0 0 10
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 19 0 4 5 0 1 10
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine 0 5 0 4 1 0 5 10
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 16 0 2 7 0 0 9
Academic Department of Medical Genetics, University of Cambridge 0 14 0 7 0 0 2 9
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 14 0 4 3 1 1 9
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 66 0 6 3 0 0 9
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 18 0 8 0 0 0 8
Mayo Clinic Laboratories, Mayo Clinic 0 5 0 0 8 0 0 8
Cohesion Phenomics 0 81 0 8 0 0 0 8
MGZ Medical Genetics Center 0 18 0 4 3 0 0 7
ClinGen Cardiomyopathy Variant Curation Expert Panel 0 49 0 3 4 0 0 7
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 0 4 0 7 0 0 0 7
New York Genome Center 0 9 0 3 4 0 0 7
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 11 0 3 2 0 1 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 11 0 4 2 0 0 6
Department of Human Genetics, Laborarztpraxis Dres. Walther, Weindel und Kollegen 0 15 0 5 1 0 0 6
Myriad Genetics, Inc. 0 13 0 5 1 0 0 6
Department of Pediatric Oncology, Hematology and Clinical Immunology, University Clinics Duesseldorf 0 4 0 1 1 0 4 6
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen 0 28 0 4 2 0 0 6
Baylor Genetics 0 15 0 3 2 0 0 5
Blueprint Genetics 0 17 0 1 4 0 0 5
Albrecht-Kossel-Institute, Medical University Rostock 0 3 0 0 1 0 4 5
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 0 2 3 0 0 5
Molecular Genetics, Royal Melbourne Hospital 0 17 0 3 2 0 0 5
Genetic Diagnostic Laboratory, University of Pennsylvania School of Medicine 0 0 0 4 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 6 0 1 3 0 0 4
Clinical Genetics, Academic Medical Center 0 29 0 3 0 0 0 3
Counsyl 0 10 0 3 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 5 0 3 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 8 0 2 0 0 1 3
Centre for Genomic and Experimental Medicine, University of Edinburgh 0 1 0 0 0 0 3 3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 0 0 3 0 0 3
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 18 0 1 2 0 0 3
Undiagnosed Diseases Network, NIH 0 0 0 0 3 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 10 0 2 0 0 1 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 5 0 1 1 0 1 3
BRCAlab, Lund University 0 10 0 2 0 0 1 3
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf 0 0 0 0 0 0 2 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 0 0 0 0 2 2
Hadassah Hebrew University Medical Center 0 0 0 2 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 11 0 1 1 0 0 2
SIB Swiss Institute of Bioinformatics 0 4 0 1 1 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 2 0 2 0 0 0 2
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 2 0 0 2 0 0 2
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 1 0 2 0 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 0 2 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 8 0 0 1 0 1 2
Division of Medical Genetics, University of Washington 0 0 0 2 0 0 0 2
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 1 0 2 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 2 0 1 1 0 0 2
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 0 5 0 0 1 0 1 2
Clinical Genomics Labs, University Health Network 0 0 0 2 0 0 0 2
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 61 0 2 0 0 0 2
Amrita Institute of Medical Sciences and Research Centre, Amrita Vishwa Vidyapeetham 0 2 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 9 0 1 0 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 0 0 0 0 1 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 0 1 0 0 0 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 0 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 0 1 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 0 0 0 0 0 0 1 1
Forensic Genetics Laboratory, Harris County Institute of Forensic Sciences 0 0 0 0 0 0 1 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 2 0 0 0 0 1 1
Institute of Human Genetics, University of Wuerzburg 0 1 0 0 0 0 1 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 3 0 0 1 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 4 0 0 1 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 0 0 0 0 1 1
Center of Medical Genetics and Primary Health Care 0 2 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 1 0 0 1
Phosphorus, Inc. 0 0 0 0 1 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 0 1 0 1 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 1 0 1 0 0 0 1
Institute for Genomic Medicine, Nationwide Children's Hospital 0 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 5 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 3 0 1 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 0 0 1 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 1 1
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 0 3 0 0 0 0 1 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 1 0 0 1 0 0 1
Department of Molecular Innovation in Lipidology, National Cerebral & Cardiovascular Center Reseach Institute 0 0 0 1 0 0 0 1
Department of Genetics of Metabolic Diseases, Institute of Medical & Molecular Genetics, Hospital Universitario Hospital La Paz 0 0 0 0 0 0 1 1
Cure Brain Cancer Foundation Neuro-Oncology Group, Adult Cancer Program, University of New South Wales 0 0 0 0 0 0 1 1
University of Iowa Renal Genetics Clinic, University of Iowa 0 0 0 0 1 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 0 0 1 0 0 0 1
Department of Medical Genomics, Royal Prince Alfred Hospital 0 0 0 0 0 0 1 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 1 0 0 0 1
CeMIA 0 0 0 0 1 0 0 1
Institute of Genomics, University of Tartu 0 0 0 0 0 0 1 1
Pars Genome Lab 0 0 0 1 0 0 0 1
3billion 0 11 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 0 1 0 0 0 1
Hauer Lab, Department Of Pediatric Oncology, Technical University Munich 0 4 0 0 0 0 1 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 2 0 0 0 0 1 1
Breast Care Center, Daerim St. Mary`s Hospital 0 0 0 1 0 0 0 1
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 0 3 0 1 0 0 0 1
ClinGen VHL Variant Curation Expert Panel, ClinGen 0 2 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 7919
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000363.5(TNNI3):c.373-10= rs7252610 0.99999
NM_174936.4(PCSK9):c.1026A>G (p.Gln342=) rs509504 0.98223
NM_000069.3(CACNA1S):c.1828-5T>C rs1998721 0.71016
NM_174936.3(PCSK9):c.-861G>A rs2479409 0.65880
NM_000540.3(RYR1):c.594A>G (p.Leu198=) rs2229139 0.60966
NM_000053.4(ATP7B):c.3903+6C>T rs2282057 0.53754
NM_002474.3(MYH11):c.5439G>A (p.Lys1813=) rs1050162 0.44262
NM_002474.3(MYH11):c.5478G>A (p.Leu1826=) rs1050163 0.44235
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala) rs1801243 0.41549
NM_000540.3(RYR1):c.7835+5A>G rs1469695 0.38217
NM_000527.5(LDLR):c.1959T>C (p.Val653=) rs5925 0.37370
NM_000540.3(RYR1):c.8190T>C (p.Asp2730=) rs2915951 0.33482
NM_000527.5(LDLR):c.1773C>T (p.Asn591=) rs688 0.33392
NM_000540.3(RYR1):c.7977G>A (p.Thr2659=) rs2229144 0.33092
NM_000540.3(RYR1):c.8118T>C (p.Ile2706=) rs2960340 0.33086
NM_000540.3(RYR1):c.8589T>C (p.Ser2863=) rs2229146 0.32548
NM_000540.3(RYR1):c.9186A>G (p.Pro3062=) rs2071089 0.32394
NM_000540.3(RYR1):c.8693-10G>C rs2915958 0.32159
NM_000540.3(RYR1):c.8337G>A (p.Glu2779=) rs2915952 0.32150
NM_000540.3(RYR1):c.7863C>T (p.His2621=) rs2229142 0.16420
NM_000540.3(RYR1):c.10687-7C>T rs2960354 0.12378
NM_000540.3(RYR1):c.7098C>T (p.Pro2366=) rs2229147 0.10248
NM_000368.5(TSC1):c.2829C>T (p.Ala943=) rs4962081 0.08329
NM_002474.3(MYH11):c.5517G>A (p.Ala1839=) rs28505375 0.07791
NM_000169.3(GLA):c.-12G>A rs3027585 0.06554
NM_000540.3(RYR1):c.7089C>T (p.Cys2363=) rs2228071 0.06536
NM_000051.4(ATM):c.378T>A (p.Asp126Glu) rs2234997 0.06244
NM_004329.3(BMPR1A):c.435G>A (p.Pro145=) rs11818239 0.04296
NM_000540.3(RYR1):c.13671C>G (p.Ser4557=) rs35959206 0.04188
NM_174936.4(PCSK9):c.657+9G>A rs11800243 0.03991
NM_000384.3(APOB):c.2706C>T (p.Asn902=) rs1801700 0.03627
NM_000069.3(CACNA1S):c.206C>G (p.Ala69Gly) rs12406479 0.03481
NM_004360.5(CDH1):c.48+5C>G rs77312180 0.03370
NM_000051.4(ATM):c.4578C>T (p.Pro1526=) rs1800889 0.03196
NM_002474.3(MYH11):c.5370C>T (p.Leu1790=) rs35295469 0.03116
NM_000540.3(RYR1):c.2871-5C>T rs45585535 0.03110
NM_000540.3(RYR1):c.7260C>T (p.His2420=) rs12973632 0.03031
NM_000038.6(APC):c.7704A>G (p.Gly2568=) rs35043160 0.02992
NM_000540.3(RYR1):c.4107C>T (p.Pro1369=) rs11882640 0.02972
NM_002474.3(MYH11):c.*5C>G rs1875184 0.02929
NM_000531.6(OTC):c.809A>G (p.Gln270Arg) rs1800328 0.02868
NM_000051.4(ATM):c.657T>C (p.Cys219=) rs2235003 0.02841
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg) rs7334118 0.02828
NM_000455.5(STK11):c.816C>T (p.Tyr272=) rs9282859 0.02603
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=) rs1801248 0.02598
NM_000051.4(ATM):c.1254A>G (p.Gln418=) rs4987943 0.02542
NM_024675.4(PALB2):c.3300T>G (p.Thr1100=) rs45516100 0.02529
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met) rs74902811 0.02492
NM_000051.4(ATM):c.8786+8A>C rs4986839 0.02488
NM_174936.4(PCSK9):c.705C>T (p.Ser235=) rs7552471 0.02435
NM_000540.3(RYR1):c.1577-6C>G rs61586345 0.02394
NM_000535.7(PMS2):c.1488C>T (p.His496=) rs1805320 0.02307
NM_000455.5(STK11):c.264C>A (p.Ile88=) rs56354945 0.02303
NM_000384.3(APOB):c.8148C>T (p.Ile2716=) rs6413458 0.02288
NM_000540.3(RYR1):c.5622A>G (p.Glu1874=) rs35021937 0.02251
NM_000051.4(ATM):c.5497-8T>C rs3092829 0.02183
NM_000384.3(APOB):c.10701G>A (p.Thr3567=) rs12713558 0.02176
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala) rs2228007 0.02174
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln) rs45532440 0.02171
NM_000051.4(ATM):c.4138C>T (p.His1380Tyr) rs3092856 0.02156
NM_000540.3(RYR1):c.11754T>A (p.Thr3918=) rs45613041 0.02154
NM_000540.3(RYR1):c.11908-14A>G rs2292799 0.02149
NM_000540.3(RYR1):c.11266C>G (p.Gln3756Glu) rs4802584 0.02143
NM_024675.4(PALB2):c.629C>T (p.Pro210Leu) rs57605939 0.02101
NM_004360.5(CDH1):c.1896C>T (p.His632=) rs33969373 0.02054
NM_000069.3(CACNA1S):c.2748C>T (p.His916=) rs2297902 0.02034
NM_000540.3(RYR1):c.13503G>A (p.Pro4501=) rs2960319 0.01964
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117 0.01834
NM_000384.3(APOB):c.4365C>T (p.Phe1455=) rs12720847 0.01812
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile) rs1805324 0.01651
NM_004360.5(CDH1):c.2634C>T (p.Gly878=) rs2229044 0.01638
NM_000546.6(TP53):c.993+12T>C rs1800899 0.01614
NM_000540.3(RYR1):c.11547G>A (p.Gln3849=) rs142518033 0.01592
NM_000540.3(RYR1):c.5360C>T (p.Pro1787Leu) rs34934920 0.01583
NM_000051.4(ATM):c.2193C>T (p.Tyr731=) rs2229019 0.01543
NM_004329.3(BMPR1A):c.1140C>T (p.Asp380=) rs35572415 0.01512
NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser) rs45494092 0.01508
NM_005902.4(SMAD3):c.870C>T (p.Ile290=) rs117185005 0.01464
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) rs33935154 0.01412
NM_000256.3(MYBPC3):c.1144C>T (p.Arg382Trp) rs11570076 0.01409
NM_000051.4(ATM):c.2614C>T (p.Pro872Ser) rs3218673 0.01393
NM_000051.4(ATM):c.2685A>G (p.Leu895=) rs3218687 0.01393
NM_000179.3(MSH6):c.1164C>T (p.His388=) rs55708305 0.01384
NM_000179.3(MSH6):c.2272C>T (p.Leu758=) rs56371757 0.01363
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967 0.01348
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg) rs118203576 0.01347
NM_002474.3(MYH11):c.4770G>A (p.Lys1590=) rs11648119 0.01341
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln) rs607969 0.01309
NM_000546.6(TP53):c.639A>G (p.Arg213=) rs1800372 0.01275
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser) rs80325569 0.01244
NM_000051.4(ATM):c.3118A>G (p.Met1040Val) rs3092857 0.01233
NM_000540.3(RYR1):c.10747G>C (p.Glu3583Gln) rs55876273 0.01228
NM_058216.3(RAD51C):c.90G>A (p.Ala30=) rs115414895 0.01193
NM_000038.6(APC):c.3732A>G (p.Gln1244=) rs74380081 0.01174
NM_000038.6(APC):c.1695A>G (p.Glu565=) rs77921116 0.01170
NM_000053.4(ATP7B):c.4302G>A (p.Thr1434=) rs116091486 0.01159
NM_000249.4(MLH1):c.1039-8T>A rs193922367 0.01153
NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe) rs1800058 0.01150
NM_000038.6(APC):c.7201C>T (p.Leu2401=) rs2229994 0.01134
NM_000251.3(MSH2):c.2766T>C (p.Phe922=) rs55859129 0.01118
NM_001048174.2(MUTYH):c.1517G>A (p.Arg506Gln) rs3219497 0.01092
NM_000051.4(ATM):c.735C>T (p.Val245=) rs3218674 0.01085
NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp) rs113449357 0.01077
NM_000053.4(ATP7B):c.3891C>T (p.Val1297=) rs114771537 0.01071
NM_000535.7(PMS2):c.1557T>C (p.Tyr519=) rs6972869 0.01065
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=) rs140587 0.01051
NM_004415.4(DSP):c.3510G>A (p.Glu1170=) rs28763964 0.01023
NM_002474.3(MYH11):c.4401C>T (p.Tyr1467=) rs8046180 0.01019
NM_000540.3(RYR1):c.11625G>A (p.Ala3875=) rs61729397 0.00991
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg) rs4986860 0.00984
NM_000546.6(TP53):c.108G>A (p.Pro36=) rs1800370 0.00974
NM_004360.5(CDH1):c.933C>G (p.Leu311=) rs35539711 0.00974
NM_000527.5(LDLR):c.90C>T (p.Asn30=) rs72658855 0.00965
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113 0.00964
NM_001035.3(RYR2):c.2204-7C>G rs147479514 0.00944
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro) rs33927012 0.00921
NM_024675.4(PALB2):c.925A>G (p.Ile309Val) rs3809683 0.00919
NM_000038.6(APC):c.2608C>T (p.Pro870Ser) rs33974176 0.00917
NM_000249.4(MLH1):c.1959G>T (p.Leu653=) rs1800146 0.00913
NM_000069.3(CACNA1S):c.1817G>A (p.Ser606Asn) rs142356235 0.00873
NM_000179.3(MSH6):c.3306T>A (p.Thr1102=) rs2020910 0.00869
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu) rs1800056 0.00861
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123 0.00861
NM_000138.5(FBN1):c.3965-8T>C rs140637 0.00859
NM_000546.6(TP53):c.97-6C>T rs35117667 0.00847
NM_000051.4(ATM):c.8419-19A>G rs12279930 0.00824
NM_174936.4(PCSK9):c.141C>T (p.Ser47=) rs28385701 0.00815
NM_000540.3(RYR1):c.13464G>A (p.Pro4488=) rs10405232 0.00800
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=) rs36060526 0.00793
NM_000540.3(RYR1):c.12741C>T (p.Ala4247=) rs80039127 0.00793
NM_000059.4(BRCA2):c.7017G>C (p.Lys2339Asn) rs45574331 0.00792
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831 0.00792
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055 0.00784
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro) rs4986761 0.00782
NM_000059.4(BRCA2):c.1788T>C (p.Asp596=) rs11571642 0.00768
NM_000051.4(ATM):c.544G>C (p.Val182Leu) rs3218707 0.00757
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr) rs12324002 0.00737
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val) rs72549415 0.00737
NM_000465.4(BARD1):c.1972C>T (p.Arg658Cys) rs3738888 0.00736
NM_000053.4(ATP7B):c.4311G>A (p.Lys1437=) rs73202048 0.00732
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808 0.00716
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) rs1800054 0.00712
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=) rs28897679 0.00707
NM_000368.5(TSC1):c.3324C>T (p.Gly1108=) rs35593170 0.00704
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401 0.00699
NM_000540.3(RYR1):c.7281C>T (p.Ala2427=) rs77310009 0.00694
NM_000059.4(BRCA2):c.517-19C>T rs11571623 0.00693
NM_000540.3(RYR1):c.6498C>T (p.Leu2166=) rs151313865 0.00691
NM_000540.3(RYR1):c.4055C>G (p.Ala1352Gly) rs112105381 0.00685
NM_000540.3(RYR1):c.3876C>A (p.Leu1292=) rs143750836 0.00681
NM_000038.6(APC):c.5265G>A (p.Ala1755=) rs34506289 0.00675
NM_000051.4(ATM):c.6995T>C (p.Leu2332Pro) rs4988111 0.00660
NM_000059.4(BRCA2):c.5704G>A rs4987048 0.00655
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317 0.00653
NM_000051.4(ATM):c.6235G>A (p.Val2079Ile) rs1800060 0.00649
NM_000051.4(ATM):c.3383A>G (p.Gln1128Arg) rs2229020 0.00636
NM_000455.5(STK11):c.369G>A (p.Gln123=) rs140112347 0.00636
NM_000540.3(RYR1):c.14589C>T (p.Phe4863=) rs146072491 0.00628
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727 0.00609
NM_000051.4(ATM):c.5793T>C (p.Ala1931=) rs3092910 0.00608
NM_000368.5(TSC1):c.2626-3C>T rs1060503192 0.00608
NM_000540.3(RYR1):c.573C>T (p.Asp191=) rs892054 0.00607
NM_000540.3(RYR1):c.13502C>T (p.Pro4501Leu) rs73933023 0.00601
NM_001048174.2(MUTYH):c.1347G>C (p.Thr449=) rs74318065 0.00596
NM_000038.6(APC):c.1959G>A (p.Arg653=) rs72541809 0.00583
NM_004415.4(DSP):c.4455G>T (p.Arg1485Ser) rs113902911 0.00572
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166 0.00570
NM_000321.3(RB1):c.2521-11G>A rs4151624 0.00570
NM_000384.3(APOB):c.10131G>A (p.Leu3377=) rs1799812 0.00564
NM_000138.5(FBN1):c.5343G>A (p.Val1781=) rs140649 0.00561
NM_000535.7(PMS2):c.1569C>G (p.Ser523=) rs141458772 0.00560
NM_000138.5(FBN1):c.2855-9C>T rs140590 0.00556
NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser) rs17886163 0.00555
NM_001943.5(DSG2):c.473T>G (p.Val158Gly) rs191143292 0.00550
NM_000138.5(FBN1):c.1029G>A (p.Gly343=) rs75655780 0.00545
NM_001048174.2(MUTYH):c.421-4A>G rs201678305 0.00541
NM_000059.4(BRCA2):c.-11C>T rs76874770 0.00539
NM_024334.3(TMEM43):c.82C>T (p.Arg28Trp) rs35028636 0.00535
NM_024675.4(PALB2):c.53A>G (p.Lys18Arg) rs138789658 0.00530
NM_000138.5(FBN1):c.6393C>T (p.Cys2131=) rs61730051 0.00522
NM_000051.4(ATM):c.6088A>G (p.Ile2030Val) rs145847315 0.00517
NM_000384.3(APOB):c.12794T>C (p.Val4265Ala) rs61743502 0.00516
NM_007294.4(BRCA1):c.5406+8T>C rs55946644 0.00514
NM_000038.6(APC):c.1958+8T>C rs62626346 0.00510
NM_174936.4(PCSK9):c.720C>T (p.Gly240=) rs41297883 0.00500
NM_000251.3(MSH2):c.984C>T (p.Ala328=) rs4987189 0.00495
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734 0.00488
NM_174936.4(PCSK9):c.1274A>G (p.Asn425Ser) rs28362261 0.00485
NM_032043.3(BRIP1):c.2236A>G (p.Ile746Val) rs111536363 0.00480
NM_000540.3(RYR1):c.9414G>A (p.Pro3138=) rs116130182 0.00478
NM_007294.4(BRCA1):c.5333-221C>A rs8176304 0.00476
NM_000251.3(MSH2):c.1666T>C (p.Leu556=) rs61756466 0.00471
NM_000540.3(RYR1):c.9882C>T (p.Ser3294=) rs142610625 0.00467
NM_002878.4(RAD51D):c.695G>A (p.Arg232Gln) rs28363283 0.00457
NM_024675.4(PALB2):c.2794G>A (p.Val932Met) rs45624036 0.00449
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val) rs1801673 0.00441
NM_000138.5(FBN1):c.6594C>T (p.Pro2198=) rs111844882 0.00439
NM_000138.5(FBN1):c.1746C>T (p.Cys582=) rs112366266 0.00436
NM_000138.5(FBN1):c.3675G>A (p.Pro1225=) rs148147223 0.00436
NM_000138.5(FBN1):c.4905C>G (p.Thr1635=) rs113115949 0.00435
NM_000179.3(MSH6):c.457+13A>G rs1800933 0.00434
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_004656.4(BAP1):c.2057-4G>T rs149499021 0.00433
NM_000053.4(ATP7B):c.3101A>G (p.His1034Arg) rs74085882 0.00430
NM_000540.3(RYR1):c.3972G>A (p.Ala1324=) rs200451188 0.00422
NM_000540.3(RYR1):c.5493G>T (p.Gly1831=) rs140004449 0.00422
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689 0.00419
NM_000540.3(RYR1):c.7209C>T (p.Arg2403=) rs78795178 0.00417
NM_001005242.3(PKP2):c.1460T>G (p.Ile487Ser) rs147240502 0.00417
NM_000540.3(RYR1):c.11941C>T (p.His3981Tyr) rs148772854 0.00409
NM_000540.3(RYR1):c.1923C>G (p.Thr641=) rs116591968 0.00404
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu) rs35001569 0.00399
NM_002878.4(RAD51D):c.873C>T (p.Arg291=) rs140848654 0.00399
NM_004360.5(CDH1):c.532-18C>T rs200673941 0.00398
NM_001035.3(RYR2):c.7488C>T (p.Leu2496=) rs143906555 0.00397
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg) rs55953736 0.00396
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met) rs146882581 0.00396
NM_000540.3(RYR1):c.6732G>A (p.Arg2244=) rs78915828 0.00390
NM_000051.4(ATM):c.1176C>G (p.Gly392=) rs1800727 0.00388
NM_000384.3(APOB):c.606A>T (p.Glu202Asp) rs61746672 0.00387
NM_000138.5(FBN1):c.306C>T (p.Cys102=) rs25388 0.00372
NM_000321.3(RB1):c.1390-11A>G rs200658795 0.00365
NM_004656.4(BAP1):c.1729+8T>C rs150945583 0.00364
NM_000051.4(ATM):c.5497-15G>C rs3092828 0.00363
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys) rs4988345 0.00363
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys) rs72541816 0.00358
NM_000384.3(APOB):c.3383G>A (p.Arg1128His) rs12713843 0.00356
NM_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser) rs145910245 0.00349
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr) rs61758784 0.00349
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu) rs59912467 0.00348
NM_000535.7(PMS2):c.1266G>A (p.Glu422=) rs138049175 0.00348
NM_000059.4(BRCA2):c.6412G>T (p.Val2138Phe) rs11571659 0.00346
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala) rs138427376 0.00342
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NC_000019.10:g.11089332C>T rs17249141 0.00338
NM_000059.4(BRCA2):c.1275A>G (p.Glu425=) rs34355306 0.00335
NM_000540.3(RYR1):c.14505G>A (p.Gly4835=) rs118126378 0.00334
NM_000053.4(ATP7B):c.2175G>A (p.Arg725=) rs61733684 0.00329
NM_058216.3(RAD51C):c.186A>G (p.Gln62=) rs28363303 0.00322
NM_000527.5(LDLR):c.1920C>T (p.Asn640=) rs5926 0.00319
NM_000527.5(LDLR):c.67+18C>A rs17242759 0.00319
NM_000053.4(ATP7B):c.3557-6C>T rs140708492 0.00314
NM_000138.5(FBN1):c.8283A>T (p.Thr2761=) rs146120912 0.00314
NM_024675.4(PALB2):c.1572A>G (p.Ser524=) rs45472400 0.00312
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr) rs35187787 0.00311
NM_004656.4(BAP1):c.1002A>G (p.Leu334=) rs28997577 0.00310
NM_020975.6(RET):c.166C>A (p.Leu56Met) rs145633958 0.00310
NM_024675.4(PALB2):c.1419A>C (p.Pro473=) rs62625275 0.00309
NM_000038.6(APC):c.3471G>A (p.Glu1157=) rs143927847 0.00308
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490 0.00308
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485 0.00307
NM_001613.4(ACTA2):c.417G>A (p.Gln139=) rs111265233 0.00305
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile) rs4988346 0.00305
NM_004656.4(BAP1):c.1026C>T (p.Ser342=) rs71651686 0.00304
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530 0.00301
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val) rs55907433 0.00297
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724 0.00295
NM_000059.4(BRCA2):c.4681C>A (p.His1561Asn) rs2219594 0.00292
NM_000540.3(RYR1):c.8360C>G (p.Thr2787Ser) rs35180584 0.00291
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885 0.00290
NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys) rs11571657 0.00288
NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=) rs7861780 0.00288
NM_000051.4(ATM):c.3993+5G>T rs3092842 0.00287
NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser) rs45568339 0.00287
NM_000038.6(APC):c.3165A>T (p.Ile1055=) rs61734287 0.00286
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317 0.00282
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390 0.00282
NM_000059.4(BRCA2):c.68-7T>A rs81002830 0.00277
NM_000548.5(TSC2):c.4006-8C>T rs45517325 0.00275
NM_000059.4(BRCA2):c.67+62T>G rs11571574 0.00274
NM_000059.4(BRCA2):c.4241C>T (p.Thr1414Met) rs70953664 0.00272
NM_000540.3(RYR1):c.8376G>A (p.Arg2792=) rs150388417 0.00272
NM_032043.3(BRIP1):c.2097+7G>A rs4988352 0.00271
NM_000038.6(APC):c.4893T>C (p.Ser1631=) rs35634377 0.00268
NM_000051.4(ATM):c.7630-17T>C rs116047570 0.00268
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954 0.00268
NM_000138.5(FBN1):c.7497A>G (p.Leu2499=) rs148516442 0.00268
NM_005359.6(SMAD4):c.354G>A (p.Ala118=) rs145988618 0.00268
NM_000051.4(ATM):c.2362A>C (p.Ser788Arg) rs641252 0.00265
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419 0.00264
NM_001035.3(RYR2):c.10254C>T (p.Asn3418=) rs138073811 0.00264
NM_000551.4(VHL):c.74C>T (p.Pro25Leu) rs35460768 0.00261
NM_004360.5(CDH1):c.1680G>C (p.Thr560=) rs35741240 0.00261
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His) rs35029074 0.00260
NM_000540.3(RYR1):c.11360-9T>A rs150187840 0.00260
NM_002474.3(MYH11):c.5691C>T (p.Asn1897=) rs149566621 0.00257
NM_004329.3(BMPR1A):c.618A>G (p.Leu206=) rs55992440 0.00257
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile) rs146102241 0.00255
NM_004360.5(CDH1):c.324A>G (p.Arg108=) rs116542018 0.00255
NM_001035.3(RYR2):c.13983C>T (p.Tyr4661=) rs138498780 0.00254
NM_000179.3(MSH6):c.3911G>A (p.Arg1304Lys) rs34625968 0.00253
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281 0.00252
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser) rs143638171 0.00250
NM_000077.5(CDKN2A):c.430C>T (p.Arg144Cys) rs116150891 0.00248
NM_000540.3(RYR1):c.4443C>T (p.Asn1481=) rs141317474 0.00246
NM_001943.5(DSG2):c.1051A>G (p.Ser351Gly) rs139326669 0.00246
NM_000051.4(ATM):c.2921+19dup rs56112367 0.00245
NM_000384.3(APOB):c.4825T>C (p.Leu1609=) rs72653083 0.00242
NM_000540.3(RYR1):c.14130-8C>G rs140808099 0.00242
NM_002474.3(MYH11):c.453G>A (p.Pro151=) rs61734199 0.00242
NM_000069.3(CACNA1S):c.5515C>T (p.Pro1839Ser) rs149547196 0.00241
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744 0.00240
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749 0.00239
NM_004360.5(CDH1):c.345G>A (p.Thr115=) rs1801023 0.00236
NM_007194.4(CHEK2):c.593-14C>T rs145754558 0.00235
NM_004656.4(BAP1):c.960C>T (p.Cys320=) rs143659795 0.00234
NM_007294.4(BRCA1):c.114G>A (p.Lys38=) rs1800062 0.00233
NM_000465.4(BARD1):c.1977A>G (p.Arg659=) rs147215925 0.00230
NM_003242.6(TGFBR2):c.1525-8C>T rs11466530 0.00230
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=) rs1799952 0.00228
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=) rs1801250 0.00228
NM_000540.3(RYR1):c.216G>T (p.Leu72=) rs113389877 0.00227
NM_002474.3(MYH11):c.4239C>T (p.Ala1413=) rs138573101 0.00226
NM_000256.3(MYBPC3):c.3004C>T (p.Arg1002Trp) rs3729799 0.00223
NM_000527.5(LDLR):c.2390-16G>A rs183496025 0.00221
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319 0.00219
NM_002474.3(MYH11):c.3652-6C>T rs193922630 0.00219
NM_174936.4(PCSK9):c.753C>T (p.Arg251=) rs28385710 0.00219
NM_001943.5(DSG2):c.2484T>C (p.Asp828=) rs201051252 0.00217
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met) rs7196804 0.00216
NM_002474.3(MYH11):c.4604G>A (p.Arg1535Gln) rs137934837 0.00216
NM_000051.4(ATM):c.370A>G (p.Ile124Val) rs148590073 0.00215
NM_004415.4(DSP):c.2596C>T (p.Arg866Cys) rs142429411 0.00214
NM_000038.6(APC):c.705A>G (p.Leu235=) rs147036141 0.00213
NM_000540.3(RYR1):c.958-11del rs537751969 0.00211
NM_000069.3(CACNA1S):c.5570G>A (p.Ser1857Asn) rs72749169 0.00210
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp) rs4986845 0.00209
NM_000059.4(BRCA2):c.2926T>A (p.Ser976Thr) rs144862123 0.00208
NM_000059.4(BRCA2):c.2927C>T (p.Ser976Phe) rs11571656 0.00208
NM_000455.5(STK11):c.464+9G>A rs376313955 0.00208
NM_000540.3(RYR1):c.2121C>A (p.Gly707=) rs146104858 0.00208
NM_000540.3(RYR1):c.9242T>C (p.Met3081Thr) rs147012990 0.00207
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser) rs147241704 0.00207
NM_000540.3(RYR1):c.12283-7C>T rs143861818 0.00206
NM_002878.4(RAD51D):c.771C>T (p.Ser257=) rs146212490 0.00206
NM_001035.3(RYR2):c.10324-4A>G rs72751287 0.00203
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746 0.00202
NM_024675.4(PALB2):c.1810C>T (p.Leu604=) rs144015319 0.00202
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu) rs17883862 0.00201
NM_000051.4(ATM):c.162T>C (p.Tyr54=) rs3218690 0.00200
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro) rs4988347 0.00197
NM_000540.3(RYR1):c.3557-6C>T rs139849689 0.00196
NM_003242.6(TGFBR2):c.1062C>T (p.Leu354=) rs113194608 0.00194
NM_032043.3(BRIP1):c.2937A>G (p.Lys979=) rs75091137 0.00194
NM_000368.5(TSC1):c.2865C>T (p.Thr955=) rs45468995 0.00193
NM_024675.4(PALB2):c.1606C>T (p.Leu536=) rs151162255 0.00193
NM_024675.4(PALB2):c.2256A>G (p.Gly752=) rs147120218 0.00193
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile) rs148399850 0.00192
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn) rs143340522 0.00192
NM_004329.3(BMPR1A):c.777G>A (p.Ala259=) rs56108371 0.00192
NM_000384.3(APOB):c.751G>A (p.Ala251Thr) rs61741625 0.00190
NM_007194.4(CHEK2):c.1407G>A (p.Val469=) rs17881378 0.00190
NM_000256.3(MYBPC3):c.565G>A (p.Val189Ile) rs11570052 0.00187
NM_007294.4(BRCA1):c.5277+48_5277+59dup rs572766355 0.00187
NM_000051.4(ATM):c.1229T>C (p.Val410Ala) rs56128736 0.00186
NM_000251.3(MSH2):c.23C>T (p.Thr8Met) rs17217716 0.00184
NM_000546.6(TP53):c.782+17C>T rs17880172 0.00184
NM_000527.5(LDLR):c.1545C>T (p.Asn515=) rs147896205 0.00183
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710 0.00182
NM_000535.7(PMS2):c.23+10G>C rs192027828 0.00182
NM_000540.3(RYR1):c.9555-9G>A rs149569999 0.00180
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg) rs35736435 0.00177
NM_000384.3(APOB):c.3426G>A (p.Ser1142=) rs142448733 0.00177
NM_000256.3(MYBPC3):c.1608T>A (p.Ala536=) rs200224422 0.00176
NM_000465.4(BARD1):c.33G>T (p.Gln11His) rs143914387 0.00176
NM_032043.3(BRIP1):c.2286T>C (p.Arg762=) rs61754141 0.00173
NM_000069.3(CACNA1S):c.2992G>A (p.Asp998Asn) rs116347156 0.00172
NM_000384.3(APOB):c.905-16A>C rs12720810 0.00172
NM_002474.3(MYH11):c.1848C>T (p.Ala616=) rs112834652 0.00172
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857 0.00171
NM_002474.3(MYH11):c.5800A>T (p.Thr1934Ser) rs113667224 0.00171
NM_002878.4(RAD51D):c.481-7G>A rs145832514 0.00171
NM_000059.4(BRCA2):c.1798T>C (p.Tyr600His) rs75419644 0.00170
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059 0.00169
NM_000059.4(BRCA2):c.4187A>G (p.Gln1396Arg) rs55969723 0.00168
NM_000314.8(PTEN):c.132C>T (p.Gly44=) rs150651961 0.00168
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_002878.4(RAD51D):c.568G>A (p.Ala190Thr) rs80116829 0.00167
NM_000051.4(ATM):c.609C>T (p.Asp203=) rs144709948 0.00166
NM_003242.6(TGFBR2):c.1602G>A (p.Val534=) rs140818646 0.00166
NM_004656.4(BAP1):c.1268C>A (p.Thr423Lys) rs115109161 0.00166
NM_000051.4(ATM):c.7788+8G>T rs112775908 0.00165
NM_000540.3(RYR1):c.4999C>T (p.Arg1667Cys) rs144157950 0.00165
NM_007294.4(BRCA1):c.21C>T (p.Arg7=) rs149402012 0.00165
NM_000138.5(FBN1):c.2420-8T>C rs140582 0.00163
NM_000384.3(APOB):c.581C>T (p.Thr194Met) rs13306198 0.00162
NM_000038.6(APC):c.120G>A (p.Glu40=) rs142720069 0.00161
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) rs149617956 0.00160
NM_024675.4(PALB2):c.400G>A (p.Asp134Asn) rs139555085 0.00160
NM_000251.3(MSH2):c.1277-8T>C rs145400590 0.00159
NM_004360.5(CDH1):c.2292C>T (p.Asp764=) rs61747636 0.00159
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046 0.00158
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747 0.00158
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile) rs3211299 0.00158
NM_000314.8(PTEN):c.1104T>C (p.Asp368=) rs35979531 0.00158
NM_007294.4(BRCA1):c.1137T>G (p.Ile379Met) rs56128296 0.00158
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423 0.00156
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782 0.00155
NM_002474.3(MYH11):c.2961C>T (p.Ile987=) rs137988790 0.00155
NM_001048174.2(MUTYH):c.1501C>A (p.Leu501Met) rs3219496 0.00154
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn) rs142155101 0.00153
NM_000527.5(LDLR):c.498C>T (p.Ala166=) rs10417394 0.00153
NM_004329.3(BMPR1A):c.1299C>T (p.Phe433=) rs150946485 0.00153
NM_032043.3(BRIP1):c.2061G>C (p.Val687=) rs112414873 0.00153
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser) rs181250704 0.00151
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=) rs145798966 0.00150
NM_002474.3(MYH11):c.5566C>T (p.Leu1856=) rs142639688 0.00150
NM_007294.4(BRCA1):c.4113G>A (p.Gly1371=) rs147448807 0.00150
NM_007294.4(BRCA1):c.4682C>T (p.Thr1561Ile) rs56158747 0.00150
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259 0.00149
NM_000138.5(FBN1):c.3069G>A (p.Lys1023=) rs199789628 0.00148
NM_000138.5(FBN1):c.8502T>C (p.Thr2834=) rs363847 0.00148
NM_007294.4(BRCA1):c.2109A>G (p.Thr703=) rs4986844 0.00147
NM_000038.6(APC):c.8068G>A (p.Ala2690Thr) rs140868933 0.00146
NM_000051.4(ATM):c.2608A>G (p.Asn870Asp) rs61734354 0.00146
NM_000090.4(COL3A1):c.2056C>G (p.Pro686Ala) rs41263775 0.00146
NM_004360.5(CDH1):c.2440-6C>G rs139757930 0.00145
NM_007294.4(BRCA1):c.4600G>A (p.Val1534Met) rs55815649 0.00145
NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser) rs79474211 0.00144
NM_000038.6(APC):c.6921G>A (p.Ser2307=) rs2229993 0.00143
NM_000251.3(MSH2):c.1387-8G>T rs187525243 0.00143
NM_004360.5(CDH1):c.1272C>T (p.Val424=) rs61756284 0.00143
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp) rs145933612 0.00143
NM_024675.4(PALB2):c.2742C>T (p.Phe914=) rs115759702 0.00143
NM_000535.7(PMS2):c.2395C>T (p.Arg799Trp) rs149202766 0.00142
NM_000540.3(RYR1):c.2919C>T (p.His973=) rs139363830 0.00140
NM_000051.4(ATM):c.1066-6T>G rs201686625 0.00139
NM_000368.5(TSC1):c.3103G>A (p.Gly1035Ser) rs118203742 0.00139
NM_000251.3(MSH2):c.1737A>G (p.Lys579=) rs61756467 0.00138
NM_000527.5(LDLR):c.1194C>T (p.Ile398=) rs13306498 0.00138
NM_000548.5(TSC2):c.5260-15C>T rs45517416 0.00138
NM_002474.3(MYH11):c.4578+3A>G rs143288748 0.00138
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val) rs151024019 0.00138
NM_000540.3(RYR1):c.2797G>A (p.Ala933Thr) rs148623597 0.00137
NM_001943.5(DSG2):c.3295A>G (p.Thr1099Ala) rs79068489 0.00137
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709 0.00137
NM_004329.3(BMPR1A):c.1560G>A (p.Thr520=) rs142775086 0.00136
NM_000053.4(ATP7B):c.1278C>T (p.Val426=) rs143556945 0.00135
NM_000069.3(CACNA1S):c.2440G>A (p.Ala814Thr) rs139956524 0.00135
NM_000179.3(MSH6):c.3647-6T>A rs182871847 0.00134
NM_000527.5(LDLR):c.1323C>T (p.Ile441=) rs5933 0.00134
NM_000540.3(RYR1):c.7615-7G>A rs146159174 0.00133
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=) rs28897762 0.00132
NM_001035.3(RYR2):c.10641G>A (p.Thr3547=) rs144256966 0.00132
NM_002878.4(RAD51D):c.666A>G (p.Glu222=) rs114012742 0.00131
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly) rs28763965 0.00131
NM_000314.8(PTEN):c.79+35C>T rs190707033 0.00130
NM_001943.5(DSG2):c.2368C>T (p.His790Tyr) rs114544564 0.00130
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192 0.00130
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr) rs139866691 0.00129
NM_000138.5(FBN1):c.3463+3A>G rs80344206 0.00128
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747 0.00127
NM_000059.4(BRCA2):c.6821G>T (p.Gly2274Val) rs55712212 0.00126
NM_000540.3(RYR1):c.7923C>G (p.Leu2641=) rs142558977 0.00126
NM_000051.4(ATM):c.4473C>T (p.Phe1491=) rs4988008 0.00125
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) rs11212587 0.00124
NM_000455.5(STK11):c.598-8C>T rs373610101 0.00123
NM_002878.4(RAD51D):c.263+1588A>G rs180869630 0.00123
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192 0.00121
NM_024675.4(PALB2):c.3495G>A (p.Ser1165=) rs45439097 0.00121
NM_000256.3(MYBPC3):c.1564G>A (p.Ala522Thr) rs11570082 0.00120
NM_000527.5(LDLR):c.*19G>A rs56270417 0.00117
NM_000535.7(PMS2):c.2340C>T (p.Pro780=) rs142230276 0.00117
NM_007294.4(BRCA1):c.591C>T (p.Cys197=) rs1799965 0.00117
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963 0.00117
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_000527.5(LDLR):c.858C>T (p.Ser286=) rs140241383 0.00116
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=) rs41267517 0.00116
NM_002474.3(MYH11):c.4506C>T (p.Leu1502=) rs76890940 0.00116
NM_002878.4(RAD51D):c.146C>T (p.Ala49Val) rs140317560 0.00116
NM_000138.5(FBN1):c.6073G>T (p.Ala2025Ser) rs113577372 0.00115
NM_000249.4(MLH1):c.-7C>T rs104894994 0.00115
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr) rs112215250 0.00115
NM_004612.4(TGFBR1):c.457G>A (p.Val153Ile) rs56014374 0.00115
NM_000069.3(CACNA1S):c.3795+3G>A rs191758096 0.00113
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly) rs61730054 0.00113
NM_000138.5(FBN1):c.7950T>C (p.Asn2650=) rs143055643 0.00113
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg) rs28997570 0.00113
NM_058216.3(RAD51C):c.837+13T>C rs188613030 0.00112
NM_000540.3(RYR1):c.725+6G>A rs201679831 0.00111
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298 0.00111
NM_001370259.2(MEN1):c.30G>T (p.Leu10=) rs371192390 0.00111
NM_000249.4(MLH1):c.-28A>G rs56198082 0.00110
NM_000059.4(BRCA2):c.1040A>G (p.Gln347Arg) rs55800493 0.00109
NM_000059.4(BRCA2):c.1911T>C (p.Gly637=) rs11571652 0.00109
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=) rs363824 0.00109
NM_000059.4(BRCA2):c.175C>G (p.Pro59Ala) rs56091799 0.00108
NM_000384.3(APOB):c.2068-4T>A rs41291161 0.00108
NM_000384.3(APOB):c.7612C>T (p.Leu2538=) rs72653093 0.00108
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys) rs147136339 0.00108
NM_004415.4(DSP):c.2986-6T>A rs144748036 0.00108
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730 0.00107
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val) rs146429605 0.00107
NM_007294.4(BRCA1):c.765G>A (p.Glu255=) rs62625299 0.00107
NM_000059.4(BRCA2):c.9235G>A (p.Val3079Ile) rs55933907 0.00106
NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His) rs187705120 0.00106
NM_007294.4(BRCA1):c.3083G>A (p.Arg1028His) rs80357459 0.00106
NM_000090.4(COL3A1):c.2445T>G (p.Pro815=) rs199727625 0.00104
NM_000321.3(RB1):c.1961-12T>C rs201697122 0.00104
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser) rs147213895 0.00104
NM_001943.5(DSG2):c.221A>G (p.His74Arg) rs201855245 0.00104
NM_005359.6(SMAD4):c.565C>T (p.Arg189Cys) rs140743238 0.00104
NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile) rs139399951 0.00104
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406 0.00103
NM_024675.4(PALB2):c.1194G>A (p.Val398=) rs61755173 0.00103
NM_000051.4(ATM):c.2127T>C (p.Ile709=) rs56252953 0.00102
NM_000059.4(BRCA2):c.6057C>T (p.Asn2019=) rs147961615 0.00102
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027 0.00101
NM_000179.3(MSH6):c.984C>T (p.Ser328=) rs138143769 0.00101
NM_000251.3(MSH2):c.819A>G (p.Val273=) rs146577635 0.00101
NM_000251.3(MSH2):c.942+2T>A rs587779195 0.00101
NM_000540.3(RYR1):c.5036G>A (p.Arg1679His) rs146504767 0.00101
NM_000548.5(TSC2):c.275A>T (p.Glu92Val) rs137853994 0.00101
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624 0.00100
NM_000455.5(STK11):c.894C>A (p.Phe298Leu) rs199681533 0.00100
NM_000535.7(PMS2):c.353+9A>C rs139990791 0.00099
NM_000169.3(GLA):c.8T>C (p.Leu3Pro) rs150547672 0.00098
NM_000257.4(MYH7):c.4806C>T (p.Asp1602=) rs142034311 0.00098
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr) rs4986854 0.00098
NM_000038.6(APC):c.5790A>G (p.Gln1930=) rs141152252 0.00097
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=) rs11571655 0.00097
NM_000069.3(CACNA1S):c.1452C>T (p.Tyr484=) rs144206959 0.00097
NM_000038.6(APC):c.2262T>G (p.Val754=) rs148987776 0.00096
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu) rs34231402 0.00096
NM_000051.4(ATM):c.6860G>C (p.Gly2287Ala) rs1800061 0.00096
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711 0.00096
NM_000059.4(BRCA2):c.6937+594T>G rs191253965 0.00096
NM_000179.3(MSH6):c.3265T>C (p.Leu1089=) rs34490141 0.00096
NM_000256.3(MYBPC3):c.2914C>T (p.Arg972Trp) rs193922382 0.00096
NM_000527.5(LDLR):c.828C>T (p.Cys276=) rs146651743 0.00096
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859 0.00096
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) rs145532615 0.00095
NM_005359.6(SMAD4):c.787+1_788-1del rs1599189646 0.00095
NM_007294.4(BRCA1):c.3022A>G (p.Met1008Val) rs56321129 0.00095
NM_000138.5(FBN1):c.6837G>A (p.Gly2279=) rs140584234 0.00094
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998 0.00094
NM_000038.6(APC):c.7514G>A (p.Arg2505Gln) rs147549623 0.00093
NM_002474.3(MYH11):c.3604G>A (p.Ala1202Thr) rs112657320 0.00093
NM_002474.3(MYH11):c.4774A>C (p.Arg1592=) rs114556043 0.00093
NM_024422.6(DSC2):c.34G>A (p.Gly12Arg) rs568391206 0.00093
NM_000038.6(APC):c.8043G>C (p.Pro2681=) rs149347068 0.00092
NM_000138.5(FBN1):c.783T>C (p.Asn261=) rs113721547 0.00091
NM_000257.4(MYH7):c.930T>C (p.Tyr310=) rs111626355 0.00091
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys) rs142885240 0.00091
NM_000138.5(FBN1):c.6987C>G (p.Asp2329Glu) rs363831 0.00089
NM_004329.3(BMPR1A):c.1395G>C (p.Pro465=) rs55845713 0.00089
NM_000038.6(APC):c.6821C>T (p.Ala2274Val) rs34919187 0.00088
NM_000059.4(BRCA2):c.5768A>C (p.Asp1923Ala) rs45491005 0.00088
NM_000465.4(BARD1):c.90T>A (p.Gly30=) rs150354152 0.00088
NM_000535.7(PMS2):c.180C>G (p.Asp60Glu) rs200313585 0.00088
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn) rs41294980 0.00087
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser) rs193922380 0.00086
NM_000535.7(PMS2):c.251-20T>G rs149343081 0.00086
NM_001035.3(RYR2):c.828A>G (p.Arg276=) rs180711819 0.00086
NM_000540.3(RYR1):c.8327C>T (p.Ser2776Phe) rs147707463 0.00085
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783 0.00083
NM_000548.5(TSC2):c.856A>G (p.Met286Val) rs1800748 0.00083
NM_002878.4(RAD51D):c.919G>A (p.Glu307Lys) rs115031549 0.00083
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg) rs28897706 0.00082
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770 0.00081
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys) rs150792276 0.00081
NM_004329.3(BMPR1A):c.1327C>T (p.Arg443Cys) rs35619497 0.00081
NM_004612.4(TGFBR1):c.192A>G (p.Lys64=) rs112051451 0.00081
NM_000051.4(ATM):c.334G>A (p.Ala112Thr) rs146382972 0.00080
NM_000090.4(COL3A1):c.1550C>T (p.Pro517Leu) rs142085247 0.00080
NM_002474.3(MYH11):c.3102T>C (p.Ser1034=) rs181744522 0.00080
NM_000540.3(RYR1):c.10119G>A (p.Val3373=) rs140689610 0.00079
NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=) rs373081328 0.00078
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met) rs112084407 0.00078
NM_000540.3(RYR1):c.4971C>T (p.Asp1657=) rs141107290 0.00078
NM_002474.3(MYH11):c.4673C>T (p.Thr1558Met) rs111854563 0.00078
NM_032043.3(BRIP1):c.918+15T>A rs117820198 0.00078
NM_174936.4(PCSK9):c.1251C>A (p.His417Gln) rs143275858 0.00078
NM_000051.4(ATM):c.2096A>G (p.Glu699Gly) rs147934285 0.00077
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp) rs63750447 0.00077
NM_000535.7(PMS2):c.2187C>G (p.Leu729=) rs373630535 0.00077
NM_000051.4(ATM):c.3150T>C (p.Leu1050=) rs3092859 0.00076
NM_000069.3(CACNA1S):c.4114-8T>C rs373675720 0.00076
NM_000138.5(FBN1):c.510C>T (p.Tyr170=) rs111671429 0.00076
NM_000256.3(MYBPC3):c.3392T>C (p.Ile1131Thr) rs370890951 0.00076
NM_001048174.2(MUTYH):c.1424G>A (p.Gly475Glu) rs3219494 0.00076
NM_032043.3(BRIP1):c.195A>G (p.Gln65=) rs141436143 0.00076
NM_032043.3(BRIP1):c.3378A>C (p.Glu1126Asp) rs145855459 0.00076
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val) rs148432863 0.00075
NM_003242.6(TGFBR2):c.1458C>T (p.Ser486=) rs139881155 0.00075
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475 0.00074
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708 0.00074
NM_058216.3(RAD51C):c.146-8A>G rs201079501 0.00074
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His) rs137932199 0.00073
NM_000540.3(RYR1):c.5364T>G (p.Ala1788=) rs200950362 0.00073
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) rs45517238 0.00073
NM_004415.4(DSP):c.4065T>C (p.Tyr1355=) rs148478829 0.00073
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325 0.00072
NM_001035.3(RYR2):c.7619A>G (p.His2540Arg) rs200105499 0.00072
NM_000038.6(APC):c.1604C>T (p.Ser535Phe) rs75870842 0.00071
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu) rs2235006 0.00071
NM_000551.4(VHL):c.150C>G (p.Ala50=) rs61751580 0.00070
NM_001005242.3(PKP2):c.1379-2067G>A rs138538072 0.00070
NM_007194.4(CHEK2):c.320-5T>A rs121908700 0.00070
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415 0.00069
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr) rs137854154 0.00068
NM_002474.3(MYH11):c.1871G>A (p.Arg624His) rs201991156 0.00068
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005 0.00067
NM_000455.5(STK11):c.597+14del rs536282050 0.00067
NM_000548.5(TSC2):c.4007C>T (p.Ser1336Leu) rs148527903 0.00067
NM_174936.4(PCSK9):c.169G>A (p.Glu57Lys) rs145886902 0.00067
NM_007294.4(BRCA1):c.81-12C>G rs80358055 0.00066
NM_024422.6(DSC2):c.172T>G (p.Phe58Val) rs138749562 0.00066
NM_174936.4(PCSK9):c.709C>T (p.Arg237Trp) rs148195424 0.00066
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn) rs138874610 0.00065
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704 0.00065
NM_000179.3(MSH6):c.663A>C (p.Glu221Asp) rs41557217 0.00064
NM_004360.5(CDH1):c.2520C>T (p.Ser840=) rs140328601 0.00064
NM_007294.4(BRCA1):c.3302G>A (p.Ser1101Asn) rs41293447 0.00064
NM_007294.4(BRCA1):c.4812A>G (p.Gln1604=) rs28897693 0.00064
NM_000257.4(MYH7):c.3156G>A (p.Lys1052=) rs138294643 0.00063
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln) rs149514924 0.00063
NM_001035.3(RYR2):c.615C>T (p.Ala205=) rs112680790 0.00063
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr) rs142358238 0.00062
NM_000249.4(MLH1):c.375A>G (p.Ala125=) rs1800144 0.00062
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly) rs147000526 0.00062
NM_000540.3(RYR1):c.443C>T (p.Thr148Ile) rs151325948 0.00061
NM_002474.3(MYH11):c.3196G>A (p.Asp1066Asn) rs200315340 0.00061
NM_007294.4(BRCA1):c.4992C>T (p.Leu1664=) rs142459158 0.00061
NM_000455.5(STK11):c.945G>A (p.Pro315=) rs376329042 0.00060
NM_001005242.3(PKP2):c.1955A>G (p.Asn652Ser) rs140852019 0.00060
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916 0.00060
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His) rs28897677 0.00060
NM_024422.6(DSC2):c.1787C>T (p.Ala596Val) rs148185335 0.00060
NM_000059.4(BRCA2):c.10121C>T (p.Thr3374Ile) rs56309455 0.00059
NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys) rs63750897 0.00059
NM_000321.3(RB1):c.1966C>T (p.Arg656Trp) rs142509759 0.00059
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala) rs146176004 0.00059
NM_004656.4(BAP1):c.519T>C (p.Tyr173=) rs143901408 0.00059
NM_007294.4(BRCA1):c.4691T>C (p.Leu1564Pro) rs56119278 0.00059
NM_000179.3(MSH6):c.1869C>T (p.Pro623=) rs141242295 0.00058
NM_000256.3(MYBPC3):c.3102C>T (p.Ala1034=) rs200663253 0.00058
NM_000540.3(RYR1):c.6961A>G (p.Ile2321Val) rs34390345 0.00058
NM_004329.3(BMPR1A):c.1419T>G (p.Val473=) rs145756629 0.00058
NM_004360.5(CDH1):c.2104G>A (p.Glu702Lys) rs149127230 0.00058
NM_007294.4(BRCA1):c.5348T>C (p.Met1783Thr) rs55808233 0.00058
NM_024675.4(PALB2):c.2851T>C (p.Ser951Pro) rs149522412 0.00058
NM_000540.3(RYR1):c.2091C>T (p.Ala697=) rs138704724 0.00057
NM_002474.3(MYH11):c.12G>A (p.Lys4=) rs112650390 0.00057
NM_002474.3(MYH11):c.4203C>T (p.Ile1401=) rs760611400 0.00057
NM_004360.5(CDH1):c.2439+10C>T rs35236080 0.00057
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly) rs148725540 0.00056
NM_000038.6(APC):c.4336G>A (p.Ala1446Thr) rs146572883 0.00056
NM_000051.4(ATM):c.7313C>T (p.Thr2438Ile) rs147604227 0.00056
NM_000059.4(BRCA2):c.2145A>G (p.Gly715=) rs112566179 0.00056
NM_002474.3(MYH11):c.2649G>A (p.Ser883=) rs150943863 0.00056
NM_004656.4(BAP1):c.1320G>A (p.Leu440=) rs77722216 0.00056
NM_004656.4(BAP1):c.294C>T (p.Ser98=) rs140641333 0.00056
NM_016203.4(PRKAG2):c.250C>T (p.Arg84Trp) rs61746358 0.00056
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg) rs201278114 0.00055
NM_000256.3(MYBPC3):c.3672C>T (p.Asp1224=) rs368221517 0.00055
NM_032043.3(BRIP1):c.430G>A (p.Ala144Thr) rs116952709 0.00055
NM_174936.4(PCSK9):c.847C>A (p.Leu283Met) rs72646510 0.00055
NM_000038.6(APC):c.2476T>G (p.Leu826Val) rs145245264 0.00054
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712 0.00054
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn) rs28897716 0.00054
NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu) rs2228241 0.00054
NM_000138.5(FBN1):c.8385C>T (p.Ile2795=) rs138574576 0.00054
NM_001943.5(DSG2):c.44T>A (p.Leu15Gln) rs372174546 0.00054
NM_000038.6(APC):c.1240C>T (p.Arg414Cys) rs137854567 0.00053
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941 0.00053
NM_000053.4(ATP7B):c.1993A>G (p.Met665Val) rs146303208 0.00053
NM_000059.4(BRCA2):c.7435+6G>A rs81002852 0.00053
NM_000090.4(COL3A1):c.3774C>T (p.Pro1258=) rs149790711 0.00053
NM_000138.5(FBN1):c.4683C>T (p.Ser1561=) rs148024160 0.00053
NM_000251.3(MSH2):c.1563T>C (p.Tyr521=) rs63750330 0.00053
NM_000455.5(STK11):c.426C>T (p.Ser142=) rs758448869 0.00053
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg) rs147509697 0.00053
NM_000321.3(RB1):c.1707A>G (p.Leu569=) rs3092895 0.00052
NM_000527.5(LDLR):c.1167G>A (p.Thr389=) rs139066906 0.00052
NM_002474.3(MYH11):c.1732A>G (p.Ile578Val) rs111936548 0.00052
NM_020975.6(RET):c.225G>A (p.Thr75=) rs151267865 0.00052
NM_000038.6(APC):c.3963C>T (p.Ser1321=) rs150595875 0.00051
NM_000548.5(TSC2):c.1593C>T (p.Ile531=) rs45517180 0.00051
NM_001035.3(RYR2):c.10941T>G (p.Pro3647=) rs370332882 0.00051
NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys) rs138089183 0.00051
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys) rs140592056 0.00051
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927 0.00051
NM_016203.4(PRKAG2):c.712G>A (p.Ala238Thr) rs200736454 0.00051
NM_000069.3(CACNA1S):c.-4A>G rs200408018 0.00050
NM_000465.4(BARD1):c.144G>A (p.Leu48=) rs151168457 0.00050
NM_004656.4(BAP1):c.501G>A (p.Ala167=) rs148631953 0.00050
NM_000138.5(FBN1):c.7346A>G (p.Asn2449Ser) rs146166400 0.00049
NM_000465.4(BARD1):c.215+12C>T rs373816832 0.00049
NM_000540.3(RYR1):c.6387C>T (p.Asp2129=) rs117886618 0.00049
NM_001005242.3(PKP2):c.1379-2019C>T rs149930872 0.00049
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val) rs200911496 0.00048
NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744 0.00048
NM_000059.4(BRCA2):c.7994A>G (p.Asp2665Gly) rs28897745 0.00048
NM_000179.3(MSH6):c.2667G>T (p.Gln889His) rs149945495 0.00048
NM_000535.7(PMS2):c.1708A>G (p.Asn570Asp) rs115670442 0.00048
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962 0.00048
NM_002474.3(MYH11):c.3973C>G (p.Gln1325Glu) rs150033906 0.00048
NM_032043.3(BRIP1):c.317G>A (p.Arg106His) rs143615668 0.00048
NM_170707.4(LMNA):c.789G>A (p.Leu263=) rs148557956 0.00048
NM_000059.4(BRCA2):c.9411T>G (p.Thr3137=) rs1799968 0.00047
NM_000256.3(MYBPC3):c.478C>T (p.Arg160Trp) rs193068692 0.00047
NM_000455.5(STK11):c.1185A>G (p.Thr395=) rs370207155 0.00047
NM_058216.3(RAD51C):c.706-18T>C rs56401264 0.00047
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) rs140856217 0.00046
NM_000251.3(MSH2):c.815C>T (p.Ala272Val) rs34136999 0.00046
NM_000540.3(RYR1):c.7830C>T (p.Leu2610=) rs140063541 0.00046
NM_000540.3(RYR1):c.9262G>A (p.Val3088Met) rs145044872 0.00046
NM_001035.3(RYR2):c.3888C>T (p.Asn1296=) rs373721253 0.00046
NM_003242.6(TGFBR2):c.649G>C (p.Ala217Pro) rs149141477 0.00046
NM_004415.4(DSP):c.8301C>G (p.Thr2767=) rs145362059 0.00046
NM_007294.4(BRCA1):c.2566T>C (p.Tyr856His) rs80356892 0.00046
NM_000069.3(CACNA1S):c.1301T>C (p.Phe434Ser) rs146136274 0.00045
NM_000535.7(PMS2):c.1199A>C (p.Gln400Pro) rs148069478 0.00045
NM_001035.3(RYR2):c.6337G>A (p.Val2113Met) rs186906598 0.00045
NM_004360.5(CDH1):c.1744C>T (p.Leu582=) rs1801025 0.00045
NM_024422.6(DSC2):c.2497C>T (p.Arg833Cys) rs142410803 0.00045
NM_000051.4(ATM):c.3342G>A (p.Lys1114=) rs138393322 0.00044
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg) rs28897728 0.00044
NM_000138.5(FBN1):c.7098C>T (p.Asp2366=) rs1005074 0.00044
NM_000249.4(MLH1):c.1410-10T>G rs372053184 0.00044
NM_000138.5(FBN1):c.3890A>G (p.Glu1297Gly) rs200342067 0.00043
NM_000169.3(GLA):c.376A>G (p.Ser126Gly) rs149391489 0.00043
NM_000251.3(MSH2):c.1680T>C (p.Asn560=) rs200056411 0.00043
NM_000540.3(RYR1):c.3111C>T (p.Ser1037=) rs145434723 0.00043
NM_001048174.2(MUTYH):c.1365C>T (p.Thr455=) rs150269172 0.00043
NM_000138.5(FBN1):c.2148A>G (p.Gly716=) rs141039922 0.00042
NM_004360.5(CDH1):c.1138-3C>T rs36103202 0.00042
NM_000038.6(APC):c.2322C>T (p.Asp774=) rs145792879 0.00041
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) rs121907998 0.00041
NM_000249.4(MLH1):c.702G>A (p.Glu234=) rs35908749 0.00041
NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser) rs118203670 0.00041
NM_000535.7(PMS2):c.936G>A (p.Met312Ile) rs139194813 0.00041
NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys) rs199601548 0.00041
NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met) rs144079536 0.00041
NM_002878.4(RAD51D):c.932T>A (p.Ile311Asn) rs145309168 0.00041
NM_004360.5(CDH1):c.*16C>T rs769544370 0.00041
NM_004360.5(CDH1):c.1239C>T (p.Tyr413=) rs36074916 0.00041
NM_004415.4(DSP):c.2723G>A (p.Arg908His) rs142494121 0.00041
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His) rs45589637 0.00041
NM_000038.6(APC):c.2805C>T (p.Tyr935=) rs137854575 0.00040
NM_000249.4(MLH1):c.198C>T (p.Thr66=) rs61751642 0.00040
NM_000321.3(RB1):c.411A>T (p.Glu137Asp) rs3092902 0.00040
NM_000527.5(LDLR):c.2055G>A (p.Pro685=) rs149126953 0.00040
NM_000527.5(LDLR):c.694+9G>A rs34093283 0.00040
NM_000038.6(APC):c.2847G>T (p.Met949Ile) rs147394539 0.00039
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_000256.3(MYBPC3):c.1544A>G (p.Asn515Ser) rs181834806 0.00039
NM_001035.3(RYR2):c.9519T>C (p.Thr3173=) rs371931287 0.00039
NM_002474.3(MYH11):c.5529G>A (p.Ser1843=) rs146024732 0.00039
NM_003242.6(TGFBR2):c.571G>A (p.Val191Ile) rs56105708 0.00039
NM_005902.4(SMAD3):c.66G>A (p.Glu22=) rs187952791 0.00039
NM_000038.6(APC):c.3650A>C (p.Asn1217Thr) rs138933660 0.00038
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg) rs55801750 0.00038
NM_000053.4(ATP7B):c.2785A>G (p.Ile929Val) rs534960245 0.00038
NM_000077.5(CDKN2A):c.298G>T (p.Ala100Ser) rs200863613 0.00038
NM_000138.5(FBN1):c.2895G>A (p.Glu965=) rs140591 0.00038
NM_000540.3(RYR1):c.9635A>G (p.Glu3212Gly) rs199738299 0.00038
NM_001943.5(DSG2):c.1781T>C (p.Leu594Pro) rs199681901 0.00038
NM_001943.5(DSG2):c.3266G>A (p.Gly1089Asp) rs200264407 0.00038
NM_002474.3(MYH11):c.5273G>A (p.Arg1758Gln) rs142546324 0.00038
NM_004360.5(CDH1):c.808T>G (p.Ser270Ala) rs587776399 0.00038
NM_005902.4(SMAD3):c.483C>T (p.Pro161=) rs202203039 0.00038
NM_000179.3(MSH6):c.1932G>C (p.Arg644Ser) rs34938432 0.00037
NM_000249.4(MLH1):c.977T>C (p.Val326Ala) rs63751049 0.00037
NM_000540.3(RYR1):c.12553G>A (p.Ala4185Thr) rs151119428 0.00037
NM_002878.4(RAD51D):c.26G>C (p.Cys9Ser) rs140825795 0.00037
NM_000038.6(APC):c.6857C>T (p.Ala2286Val) rs200587641 0.00036
NM_000179.3(MSH6):c.2561A>T (p.Lys854Met) rs34374438 0.00036
NM_000256.3(MYBPC3):c.1286C>T (p.Ala429Val) rs370412052 0.00036
NM_002474.3(MYH11):c.471C>T (p.Ile157=) rs140267000 0.00036
NM_002474.3(MYH11):c.5271C>A (p.Asp1757Glu) rs146043349 0.00036
NM_002474.3(MYH11):c.5470G>A (p.Ala1824Thr) rs147710374 0.00036
NM_002474.3(MYH11):c.5499G>C (p.Glu1833Asp) rs145252402 0.00036
NM_016203.4(PRKAG2):c.251G>A (p.Arg84Gln) rs201953758 0.00036
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe) rs56009889 0.00035
NM_000059.4(BRCA2):c.9924C>T (p.Tyr3308=) rs4987049 0.00035
NM_000455.5(STK11):c.1284G>A (p.Ser428=) rs369097329 0.00035
NM_000535.7(PMS2):c.1864A>G (p.Met622Val) rs370853512 0.00035
NM_004656.4(BAP1):c.1035G>C (p.Gly345=) rs369744075 0.00035
NM_016203.4(PRKAG2):c.247C>T (p.Pro83Ser) rs148791216 0.00035
NM_000038.6(APC):c.607C>G (p.Gln203Glu) rs141576417 0.00034
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233 0.00034
NM_000051.4(ATM):c.4402G>A (p.Val1468Ile) rs369903995 0.00034
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala) rs201273753 0.00034
NM_000138.5(FBN1):c.5964C>T (p.Thr1988=) rs113022801 0.00034
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr) rs63750365 0.00034
NM_000257.4(MYH7):c.4909G>A (p.Ala1637Thr) rs141122361 0.00034
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883 0.00034
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931 0.00034
NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys) rs28997571 0.00034
NM_032043.3(BRIP1):c.380-17T>A rs200050729 0.00034
NM_000251.3(MSH2):c.2154A>G (p.Gln718=) rs63750810 0.00033
NM_000268.4(NF2):c.1113C>T (p.Asn371=) rs142459414 0.00033
NM_000548.5(TSC2):c.2743-3C>A rs45517264 0.00033
NM_002474.3(MYH11):c.1989G>A (p.Lys663=) rs138581000 0.00033
NM_002474.3(MYH11):c.5275G>A (p.Val1759Ile) rs138059405 0.00033
NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys) rs147415451 0.00033
NM_005359.6(SMAD4):c.1392C>T (p.Ala464=) rs140487104 0.00033
NM_174936.4(PCSK9):c.1864-13C>T rs147470944 0.00033
NM_000038.6(APC):c.2232T>G (p.Ser744=) rs145751759 0.00032
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys) rs2229022 0.00032
NM_000059.4(BRCA2):c.223G>C (p.Ala75Pro) rs28897701 0.00032
NM_000069.3(CACNA1S):c.540T>C (p.Pro180=) rs138245131 0.00032
NM_000179.3(MSH6):c.3488A>T (p.Glu1163Val) rs63750252 0.00032
NM_000527.5(LDLR):c.1977C>A (p.Thr659=) rs72658866 0.00032
NM_000535.7(PMS2):c.988+11T>C rs139969671 0.00032
NM_000540.3(RYR1):c.7788C>T (p.Thr2596=) rs199636890 0.00032
NM_002474.3(MYH11):c.3669C>T (p.Asp1223=) rs111940956 0.00032
NM_005359.6(SMAD4):c.102A>G (p.Thr34=) rs146104321 0.00032
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_007294.4(BRCA1):c.1036C>T (p.Pro346Ser) rs80357015 0.00032
NM_000038.6(APC):c.4905G>A (p.Gly1635=) rs137988845 0.00031
NM_000051.4(ATM):c.7740A>C (p.Arg2580Ser) rs199915459 0.00031
NM_000251.3(MSH2):c.435T>G (p.Ile145Met) rs63750124 0.00031
NM_000540.3(RYR1):c.5317C>T (p.Pro1773Ser) rs192863857 0.00031
NM_000540.3(RYR1):c.6127+3A>G rs78851466 0.00031
NM_000540.3(RYR1):c.7876C>T (p.Leu2626=) rs145446438 0.00031
NM_001048174.2(MUTYH):c.1392+2C>T rs140288388 0.00031
NM_002474.3(MYH11):c.2648C>T (p.Ser883Leu) rs35035518 0.00031
NM_002474.3(MYH11):c.5450C>T (p.Ala1817Val) rs142654744 0.00031
NM_004656.4(BAP1):c.1962A>C (p.Val654=) rs148624125 0.00031
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687 0.00031
NM_000051.4(ATM):c.4949A>G (p.Asn1650Ser) rs55870064 0.00030
NM_000069.3(CACNA1S):c.2361-11C>T rs376279583 0.00030
NM_000069.3(CACNA1S):c.542-13C>T rs199502458 0.00030
NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile) rs183306990 0.00030
NM_000268.4(NF2):c.886-15C>T rs200837904 0.00030
NM_000368.5(TSC1):c.1977G>A (p.Ala659=) rs35958226 0.00030
NM_000546.6(TP53):c.173C>G (p.Pro58Arg) rs144386518 0.00030
NM_001048174.2(MUTYH):c.116-54C>T rs367908623 0.00030
NM_000051.4(ATM):c.4082A>G (p.Gln1361Arg) rs141921797 0.00029
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His) rs201666889 0.00029
NM_000051.4(ATM):c.7004C>T (p.Thr2335Ile) rs3092831 0.00029
NM_000077.5(CDKN2A):c.-14C>T rs764244718 0.00029
NM_000090.4(COL3A1):c.3642C>A (p.Gly1214=) rs184402915 0.00029
NM_000138.5(FBN1):c.2175T>C (p.Asn725=) rs140606 0.00029
NM_000249.4(MLH1):c.1897-17C>G rs2308316 0.00029
NM_000251.3(MSH2):c.471C>A (p.Gly157=) rs61756463 0.00029
NM_000321.3(RB1):c.1140C>T (p.Asn380=) rs117865557 0.00029
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu) rs75820036 0.00029
NM_000527.5(LDLR):c.507C>T (p.Asn169=) rs146354103 0.00029
NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys) rs375289386 0.00029
NM_000540.3(RYR1):c.3381C>T (p.Arg1127=) rs200780880 0.00029
NM_001035.3(RYR2):c.649A>G (p.Ile217Val) rs200642525 0.00029
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His) rs56012641 0.00029
NM_007294.4(BRCA1):c.2368A>G (p.Thr790Ala) rs41286298 0.00029
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033 0.00029
NM_024422.6(DSC2):c.1559T>C (p.Ile520Thr) rs561310777 0.00029
NM_000038.6(APC):c.2593C>T (p.Pro865Ser) rs192620988 0.00028
NM_000038.6(APC):c.3511C>T (p.Arg1171Cys) rs201830995 0.00028
NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser) rs146531614 0.00028
NM_000546.5(TP53):c.319T>C (p.Tyr107His) rs368771578 0.00028
NM_002474.3(MYH11):c.2075C>T (p.Ala692Val) rs148893135 0.00028
NM_004360.5(CDH1):c.892G>A (p.Ala298Thr) rs142822590 0.00028
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210 0.00027
NM_000455.5(STK11):c.*8C>T rs587782259 0.00027
NM_000465.4(BARD1):c.1491A>G (p.Pro497=) rs61754117 0.00027
NM_007194.4(CHEK2):c.1604G>A (p.Arg535His) rs544216926 0.00027
NM_007194.4(CHEK2):c.663C>G (p.Ile221Met) rs200451612 0.00027
NM_007294.4(BRCA1):c.3713C>T (p.Pro1238Leu) rs28897688 0.00027
NM_032043.3(BRIP1):c.3559G>A (p.Ala1187Thr) rs367610893 0.00027
NM_000051.4(ATM):c.4362A>C (p.Lys1454Asn) rs148993589 0.00026
NM_000059.4(BRCA2):c.1395A>C (p.Val465=) rs11571641 0.00026
NM_000059.4(BRCA2):c.4686A>G (p.Gln1562=) rs28897730 0.00026
NM_000059.4(BRCA2):c.4813G>A (p.Val1605Ile) rs786201175 0.00026
NM_000059.4(BRCA2):c.9292T>C (p.Tyr3098His) rs41293521 0.00026
NM_000069.3(CACNA1S):c.324C>T (p.Tyr108=) rs200487405 0.00026
NM_000077.5(CDKN2A):c.318G>A (p.Val106=) rs199888003 0.00026
NM_000138.5(FBN1):c.4443C>T (p.Ser1481=) rs145040593 0.00026
NM_000138.5(FBN1):c.539-15del rs193922211 0.00026
NM_000138.5(FBN1):c.5423-4G>A rs377036485 0.00026
NM_000256.3(MYBPC3):c.1721G>A (p.Arg574Gln) rs397515922 0.00026
NM_000527.5(LDLR):c.1056C>T (p.Cys352=) rs13306515 0.00026
NM_000527.5(LDLR):c.1875C>T (p.Asn625=) rs137853962 0.00026
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser) rs200513014 0.00026
NM_000540.3(RYR1):c.4115C>T (p.Ala1372Val) rs370966353 0.00026
NM_000548.5(TSC2):c.5028G>A (p.Leu1676=) rs45475501 0.00026
NM_002474.3(MYH11):c.914A>G (p.Asn305Ser) rs185661462 0.00026
NM_003242.6(TGFBR2):c.915C>T (p.Leu305=) rs146030104 0.00026
NM_004360.5(CDH1):c.2413G>A (p.Asp805Asn) rs200894246 0.00026
NM_004612.4(TGFBR1):c.528G>A (p.Thr176=) rs190878719 0.00026
NM_005902.4(SMAD3):c.207-11C>T rs148430981 0.00026
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675 0.00026
NM_024422.6(DSC2):c.631-13dup rs551337657 0.00026
NM_024675.4(PALB2):c.1000T>G (p.Tyr334Asp) rs202241382 0.00026
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp) rs150624408 0.00026
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr) rs150757822 0.00025
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967 0.00025
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701 0.00025
NM_000059.4(BRCA2):c.440A>G (p.Gln147Arg) rs80358674 0.00025
NM_000256.3(MYBPC3):c.2873C>T (p.Thr958Ile) rs376504548 0.00025
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met) rs200119454 0.00025
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser) rs17420802 0.00025
NM_000546.6(TP53):c.704A>G (p.Asn235Ser) rs144340710 0.00025
NM_001035.3(RYR2):c.2574G>A (p.Thr858=) rs367992907 0.00025
NM_002474.3(MYH11):c.5585G>A (p.Arg1862His) rs146228576 0.00025
NM_002878.4(RAD51D):c.413A>G (p.Asn138Ser) rs201676898 0.00025
NM_004329.3(BMPR1A):c.1433G>A (p.Arg478His) rs113849804 0.00025
NM_005902.4(SMAD3):c.207-10G>A rs201912204 0.00025
NM_007294.4(BRCA1):c.5333-304G>A rs55633264 0.00025
NM_024422.6(DSC2):c.1729A>G (p.Ile577Val) rs201845641 0.00025
NM_058216.3(RAD51C):c.922G>T (p.Ala308Ser) rs185057307 0.00025
NM_000038.6(APC):c.5274T>A (p.Ser1758=) rs199600387 0.00024
NM_000256.3(MYBPC3):c.184A>C (p.Thr62Pro) rs377225516 0.00024
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101 0.00024
NM_000540.3(RYR1):c.7026C>T (p.Asn2342=) rs202061237 0.00024
NM_001035.3(RYR2):c.3720C>T (p.Ala1240=) rs750335699 0.00024
NM_001035.3(RYR2):c.892C>T (p.Arg298Cys) rs551099887 0.00024
NM_002474.3(MYH11):c.2802G>A (p.Glu934=) rs138977949 0.00024
NM_007294.4(BRCA1):c.3929C>A (p.Thr1310Lys) rs80357257 0.00024
NM_007294.4(BRCA1):c.4358-10C>T rs80358111 0.00024
NM_024334.3(TMEM43):c.1111T>C (p.Tyr371His) rs116911972 0.00024
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098 0.00024
NM_000038.6(APC):c.6526T>C (p.Leu2176=) rs183468041 0.00023
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561 0.00023
NM_000059.4(BRCA2):c.5170A>G (p.Ile1724Val) rs35335654 0.00023
NM_000090.4(COL3A1):c.1815+5G>A rs146652498 0.00023
NM_000138.5(FBN1):c.6314-15G>A rs200841830 0.00023
NM_000179.3(MSH6):c.3438+11_3438+14del rs377746844 0.00023
NM_000455.5(STK11):c.1194G>A (p.Ala398=) rs184271025 0.00023
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln) rs149866955 0.00023
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys) rs28897676 0.00023
NM_016203.4(PRKAG2):c.1585-4G>A rs373649956 0.00023
NM_000038.6(APC):c.7036C>T (p.Pro2346Ser) rs200756935 0.00022
NM_000051.4(ATM):c.2281A>T (p.Thr761Ser) rs2235011 0.00022
NM_000051.4(ATM):c.6537T>G (p.Ile2179Met) rs146243469 0.00022
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755 0.00022
NM_000059.4(BRCA2):c.9502-12T>G rs81002803 0.00022
NM_000069.3(CACNA1S):c.1670G>A (p.Arg557His) rs4915212 0.00022
NM_000069.3(CACNA1S):c.1890G>A (p.Pro630=) rs141717649 0.00022
NM_000077.5(CDKN2A):c.373G>C (p.Asp125His) rs146179135 0.00022
NM_000249.4(MLH1):c.2066A>G (p.Gln689Arg) rs63750702 0.00022
NM_000249.4(MLH1):c.307-19A>G rs121909451 0.00022
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser) rs41295288 0.00022
NM_000527.5(LDLR):c.1705+18C>A rs186896947 0.00022
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys) rs139438201 0.00022
NM_000540.3(RYR1):c.6639C>T (p.Asn2213=) rs374630822 0.00022
NM_000546.6(TP53):c.216C>T (p.Pro72=) rs56275308 0.00022
NM_004360.5(CDH1):c.1018A>G (p.Thr340Ala) rs116093741 0.00022
NM_004360.5(CDH1):c.2589C>T (p.Asn863=) rs115817750 0.00022
NM_004360.5(CDH1):c.33G>C (p.Leu11=) rs730881654 0.00022
NM_004612.4(TGFBR1):c.1032T>C (p.Asn344=) rs192662552 0.00022
NM_007294.4(BRCA1):c.4813T>C (p.Leu1605=) rs80356833 0.00022
NM_000038.6(APC):c.1419G>A (p.Gln473=) rs141579422 0.00021
NM_000038.6(APC):c.3352A>G (p.Asn1118Asp) rs140493115 0.00021
NM_000038.6(APC):c.6782C>T (p.Pro2261Leu) rs376494248 0.00021
NM_000038.6(APC):c.8462A>G (p.Asp2821Gly) rs780049836 0.00021
NM_000051.4(ATM):c.4871A>G (p.His1624Arg) rs56354559 0.00021
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755 0.00021
NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg) rs146726731 0.00021
NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr) rs63751132 0.00021
NM_002474.3(MYH11):c.1078G>A (p.Val360Ile) rs111677442 0.00021
NM_002474.3(MYH11):c.217A>C (p.Lys73Gln) rs147447269 0.00021
NM_003242.6(TGFBR2):c.4G>T (p.Gly2Cys) rs565502802 0.00021
NM_004415.4(DSP):c.2422C>T (p.Arg808Cys) rs150339369 0.00021
NM_007294.4(BRCA1):c.2155A>G (p.Lys719Glu) rs80357147 0.00021
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys) rs28897683 0.00021
NM_007294.4(BRCA1):c.5411T>A (p.Val1804Asp) rs80356920 0.00021
NM_007294.4(BRCA1):c.571G>A (p.Val191Ile) rs80357090 0.00021
NM_016203.4(PRKAG2):c.521C>T (p.Thr174Met) rs148056866 0.00021
NM_024422.6(DSC2):c.907G>A (p.Val303Met) rs145560678 0.00021
NM_024675.4(PALB2):c.298C>T (p.Leu100Phe) rs61756147 0.00021
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly) rs56403624 0.00020
NM_000059.4(BRCA2):c.198A>G (p.Gln66=) rs28897700 0.00020
NM_000059.4(BRCA2):c.2589T>A (p.Asn863Lys) rs80358521 0.00020
NM_000059.4(BRCA2):c.5020A>G (p.Ser1674Gly) rs80358725 0.00020
NM_000059.4(BRCA2):c.6803G>A (p.Arg2268Lys) rs80358906 0.00020
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln) rs63750361 0.00020
NM_000256.3(MYBPC3):c.1813G>A (p.Asp605Asn) rs376736293 0.00020
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr) rs104894363 0.00020
NM_000455.5(STK11):c.1296G>A (p.Gln432=) rs587781179 0.00020
NM_000540.3(RYR1):c.2822C>T (p.Ala941Val) rs748568687 0.00020
NM_007294.4(BRCA1):c.1459G>T (p.Val487Phe) rs369588942 0.00020
NM_024675.4(PALB2):c.1492G>T (p.Asp498Tyr) rs75023630 0.00020
NM_000038.6(APC):c.1488A>T (p.Thr496=) rs9282599 0.00019
NM_000051.4(ATM):c.2495G>A (p.Arg832His) rs199875915 0.00019
NM_000051.4(ATM):c.295A>G (p.Ser99Gly) rs137882485 0.00019
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr) rs145119475 0.00019
NM_000051.4(ATM):c.4768C>T (p.Leu1590Phe) rs35962982 0.00019
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu) rs147187700 0.00019
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg) rs56399857 0.00019
NM_000051.4(ATM):c.8734A>G (p.Arg2912Gly) rs376676328 0.00019
NM_000053.4(ATP7B):c.3069T>C (p.Thr1023=) rs187343742 0.00019
NM_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys) rs55794205 0.00019
NM_000059.4(BRCA2):c.8905G>A (p.Val2969Met) rs59004709 0.00019
NM_000059.4(BRCA2):c.9770A>G (p.Lys3257Arg) rs55847618 0.00019
NM_000077.5(CDKN2A):c.51C>A (p.Ala17=) rs764362225 0.00019
NM_000138.5(FBN1):c.7852G>A (p.Gly2618Arg) rs141133182 0.00019
NM_000138.5(FBN1):c.79G>A (p.Ala27Thr) rs25397 0.00019
NM_000179.3(MSH6):c.3961A>G (p.Arg1321Gly) rs41295278 0.00019
NM_000179.3(MSH6):c.4001+11_4001+15dup rs587779302 0.00019
NM_000251.3(MSH2):c.1255C>A (p.Gln419Lys) rs63750006 0.00019
NM_000256.3(MYBPC3):c.461T>C (p.Ile154Thr) rs373946195 0.00019
NM_000368.5(TSC1):c.1460C>G (p.Ser487Cys) rs118203532 0.00019
NM_000465.4(BARD1):c.308G>A (p.Ser103Asn) rs145629242 0.00019
NM_000535.7(PMS2):c.1243G>A (p.Val415Met) rs138387687 0.00019
NM_000540.3(RYR1):c.1123-11C>T rs3745845 0.00019
NM_000540.3(RYR1):c.3618C>T (p.Asp1206=) rs191970833 0.00019
NM_000546.6(TP53):c.1079G>C (p.Gly360Ala) rs35993958 0.00019
NM_000548.5(TSC2):c.251C>T (p.Ala84Val) rs35660529 0.00019
NM_000548.5(TSC2):c.3429C>T (p.Asp1143=) rs45487691 0.00019
NM_001035.3(RYR2):c.3024G>A (p.Ala1008=) rs566157997 0.00019
NM_001035.3(RYR2):c.3356G>A (p.Arg1119His) rs201312753 0.00019
NM_001048174.2(MUTYH):c.1219C>T (p.His407Tyr) rs141432759 0.00019
NM_004612.4(TGFBR1):c.214A>T (p.Ile72Leu) rs111513627 0.00019
NM_007294.4(BRCA1):c.1789G>A (p.Glu597Lys) rs55650082 0.00019
NM_007294.4(BRCA1):c.4484+14A>G rs80358022 0.00019
NM_016203.4(PRKAG2):c.123C>T (p.Ser41=) rs397517263 0.00019
NM_032043.3(BRIP1):c.380-5A>G rs587782131 0.00019
NM_032043.3(BRIP1):c.628C>T (p.Pro210Ser) rs150313156 0.00019
NM_174936.4(PCSK9):c.996+8del rs768213924 0.00019
NM_000038.6(APC):c.4237A>G (p.Met1413Val) rs141519952 0.00018
NM_000038.6(APC):c.5009C>T (p.Ala1670Val) rs202228932 0.00018
NM_000038.6(APC):c.6637A>G (p.Met2213Val) rs186926737 0.00018
NM_000053.4(ATP7B):c.3422C>G (p.Pro1141Arg) rs757549770 0.00018
NM_000059.4(BRCA2):c.2350A>G (p.Met784Val) rs11571653 0.00018
NM_000090.4(COL3A1):c.2805T>C (p.Pro935=) rs111567071 0.00018
NM_000138.5(FBN1):c.3590-8T>C rs140600 0.00018
NM_000138.5(FBN1):c.4727T>C (p.Met1576Thr) rs776625874 0.00018
NM_000138.5(FBN1):c.902G>T (p.Gly301Val) rs142888621 0.00018
NM_000455.5(STK11):c.618G>A (p.Ala206=) rs370976710 0.00018
NM_000527.5(LDLR):c.345C>G (p.Arg115=) rs150144164 0.00018
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_000540.3(RYR1):c.4294-4C>T rs368108496 0.00018
NM_000546.6(TP53):c.1014C>T (p.Phe338=) rs150293825 0.00018
NM_000546.6(TP53):c.560-8G>C rs373797299 0.00018
NM_000546.6(TP53):c.935C>G (p.Thr312Ser) rs145151284 0.00018
NM_001370259.2(MEN1):c.762G>A (p.Leu254=) rs199909967 0.00018
NM_002474.3(MYH11):c.6G>A (p.Ala2=) rs762011909 0.00018
NM_004360.5(CDH1):c.2412C>T (p.Pro804=) rs202075199 0.00018
NM_004415.4(DSP):c.269A>G (p.Gln90Arg) rs188516326 0.00018
NM_000038.6(APC):c.3479C>A (p.Thr1160Lys) rs201004111 0.00017
NM_000038.6(APC):c.7193C>T (p.Ser2398Phe) rs150882838 0.00017
NM_000051.4(ATM):c.6108T>C (p.Tyr2036=) rs3092826 0.00017
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser) rs370559102 0.00017
NM_000051.4(ATM):c.7381C>T (p.Arg2461Cys) rs201314561 0.00017
NM_000249.4(MLH1):c.1040C>A (p.Thr347Asn) rs201541505 0.00017
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His) rs202139499 0.00017
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met) rs587780046 0.00017
NM_001943.5(DSG2):c.1851C>T (p.Leu617=) rs202057770 0.00017
NM_002474.3(MYH11):c.1212G>C (p.Gly404=) rs201198815 0.00017
NM_002474.3(MYH11):c.3531G>A (p.Thr1177=) rs149980738 0.00017
NM_004656.4(BAP1):c.404C>T (p.Pro135Leu) rs374928824 0.00017
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys) rs28897686 0.00017
NM_007294.4(BRCA1):c.4132G>A (p.Val1378Ile) rs28897690 0.00017
NM_024675.4(PALB2):c.2135C>T (p.Ala712Val) rs141458731 0.00017
NM_032043.3(BRIP1):c.587A>G (p.Asn196Ser) rs550707862 0.00017
NM_032043.3(BRIP1):c.854A>G (p.His285Arg) rs141055990 0.00017
NM_058216.3(RAD51C):c.640C>T (p.Arg214Cys) rs140804406 0.00017
NM_000038.6(APC):c.6669A>G (p.Ser2223=) rs372680843 0.00016
NM_000038.6(APC):c.7625A>G (p.Asn2542Ser) rs151163793 0.00016
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp) rs201199629 0.00016
NM_000069.3(CACNA1S):c.2593C>T (p.Arg865Cys) rs201205904 0.00016
NM_000069.3(CACNA1S):c.262A>G (p.Lys88Glu) rs140330831 0.00016
NM_000090.4(COL3A1):c.2700C>T (p.Gly900=) rs112164939 0.00016
NM_000138.5(FBN1):c.3454G>A (p.Ala1152Thr) rs140890215 0.00016
NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys) rs201309310 0.00016
NM_000179.3(MSH6):c.3160A>T (p.Ile1054Phe) rs267608075 0.00016
NM_000179.3(MSH6):c.866G>A (p.Gly289Asp) rs368318845 0.00016
NM_000249.4(MLH1):c.2101C>A (p.Gln701Lys) rs63750114 0.00016
NM_000249.4(MLH1):c.65G>C (p.Gly22Ala) rs41295280 0.00016
NM_000314.8(PTEN):c.234C>T (p.Thr78=) rs35917308 0.00016
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser) rs72658865 0.00016
NM_000527.5(LDLR):c.564C>T (p.Tyr188=) rs121908034 0.00016
NM_000535.7(PMS2):c.2108C>T (p.Thr703Met) rs370196722 0.00016
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr) rs201343342 0.00016
NM_000540.3(RYR1):c.14919G>A (p.Pro4973=) rs535386378 0.00016
NM_001005242.3(PKP2):c.1504G>A (p.Ala502Thr) rs368740836 0.00016
NM_001005242.3(PKP2):c.307C>A (p.Pro103Thr) rs139215336 0.00016
NM_001048174.2(MUTYH):c.1483C>T (p.Arg495Cys) rs147480076 0.00016
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met) rs200165598 0.00016
NM_002474.3(MYH11):c.3291C>T (p.Ala1097=) rs147605116 0.00016
NM_002474.3(MYH11):c.3932C>T (p.Ala1311Val) rs185720909 0.00016
NM_002474.3(MYH11):c.5094C>T (p.Ala1698=) rs771742318 0.00016
NM_004360.5(CDH1):c.1568A>G (p.Tyr523Cys) rs553907248 0.00016
NM_004415.4(DSP):c.4775A>G (p.Lys1592Arg) rs200421954 0.00016
NM_004612.4(TGFBR1):c.1216T>C (p.Leu406=) rs200062984 0.00016
NM_004656.4(BAP1):c.376-4G>A rs369277958 0.00016
NM_004656.4(BAP1):c.534C>T (p.Gly178=) rs200285587 0.00016
NM_004656.4(BAP1):c.651C>T (p.Ala217=) rs202170860 0.00016
NM_005902.4(SMAD3):c.636G>A (p.Met212Ile) rs202094530 0.00016
NM_005902.4(SMAD3):c.984G>A (p.Pro328=) rs150994304 0.00016
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu) rs80357201 0.00016
NM_007294.4(BRCA1):c.4410A>T (p.Glu1470Asp) rs80357075 0.00016
NM_024675.4(PALB2):c.1564C>T (p.Pro522Ser) rs373876101 0.00016
NM_024675.4(PALB2):c.3054G>C (p.Glu1018Asp) rs183489969 0.00016
NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys) rs201869624 0.00016
NM_058216.3(RAD51C):c.744T>C (p.Phe248=) rs150142859 0.00016
NM_000038.6(APC):c.1606G>A (p.Glu536Lys) rs138098808 0.00015
NM_000038.6(APC):c.6985A>G (p.Ile2329Val) rs146048493 0.00015
NM_000051.4(ATM):c.2887A>G (p.Met963Val) rs374353016 0.00015
NM_000059.4(BRCA2):c.2813C>A (p.Ala938Glu) rs55773834 0.00015
NM_000090.4(COL3A1):c.3325C>G (p.Arg1109Gly) rs112371422 0.00015
NM_000138.5(FBN1):c.1371C>G (p.Arg457=) rs25436 0.00015
NM_000138.5(FBN1):c.3423G>A (p.Pro1141=) rs140396599 0.00015
NM_000138.5(FBN1):c.7056C>T (p.Ser2352=) rs149697299 0.00015
NM_000138.5(FBN1):c.863-3C>T rs955955089 0.00015
NM_000314.8(PTEN):c.802-12T>C rs587781129 0.00015
NM_000432.4(MYL2):c.243G>T (p.Val81=) rs368851472 0.00015
NM_000527.5(LDLR):c.1491T>C (p.Thr497=) rs145252288 0.00015
NM_000527.5(LDLR):c.165C>G (p.Gly55=) rs150644181 0.00015
NM_001613.4(ACTA2):c.936C>T (p.Ala312=) rs200213764 0.00015
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342 0.00015
NM_016203.4(PRKAG2):c.698C>G (p.Ala233Gly) rs201240745 0.00015
NM_000038.6(APC):c.6609T>C (p.Val2203=) rs149328018 0.00014
NM_000038.6(APC):c.7109G>T (p.Gly2370Val) rs140079759 0.00014
NM_000051.4(ATM):c.2927T>C (p.Val976Ala) rs146145357 0.00014
NM_000051.4(ATM):c.3077+4G>A rs201222237 0.00014
NM_000051.4(ATM):c.3806A>G (p.Lys1269Arg) rs146017595 0.00014
NM_000051.4(ATM):c.5089A>G (p.Thr1697Ala) rs142455912 0.00014
NM_000051.4(ATM):c.7618G>A (p.Val2540Ile) rs35203200 0.00014
NM_000059.4(BRCA2):c.4061C>T (p.Thr1354Met) rs80358656 0.00014
NM_000059.4(BRCA2):c.502C>A (p.Pro168Thr) rs80358726 0.00014
NM_000090.4(COL3A1):c.3413C>T (p.Pro1138Leu) rs201880122 0.00014
NM_000138.5(FBN1):c.3936C>T (p.Ser1312=) rs779913610 0.00014
NM_000138.5(FBN1):c.5917+3A>G rs202158568 0.00014
NM_000138.5(FBN1):c.7661G>A (p.Arg2554Gln) rs199522781 0.00014
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu) rs61748083 0.00014
NM_000179.3(MSH6):c.884A>G (p.Lys295Arg) rs267608051 0.00014
NM_000251.3(MSH2):c.1748A>G (p.Asn583Ser) rs201118107 0.00014
NM_000251.3(MSH2):c.766G>A (p.Ala256Thr) rs377403073 0.00014
NM_000256.3(MYBPC3):c.2460G>A (p.Arg820=) rs532996422 0.00014
NM_000257.4(MYH7):c.4170-8C>A rs199632504 0.00014
NM_000368.5(TSC1):c.2209-3T>C rs368309229 0.00014
NM_000455.5(STK11):c.920+12C>T rs186518799 0.00014
NM_000465.4(BARD1):c.279A>G (p.Gln93=) rs370000575 0.00014
NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp) rs147320363 0.00014
NM_000540.3(RYR1):c.641C>T (p.Thr214Met) rs727504129 0.00014
NM_000540.3(RYR1):c.8442G>A (p.Lys2814=) rs771306571 0.00014
NM_000546.6(TP53):c.869G>A (p.Arg290His) rs55819519 0.00014
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg) rs200450676 0.00014
NM_001035.3(RYR2):c.4747C>T (p.Pro1583Ser) rs200070226 0.00014
NM_002474.3(MYH11):c.1635G>C (p.Thr545=) rs773802963 0.00014
NM_002474.3(MYH11):c.4293C>T (p.Asp1431=) rs143588920 0.00014
NM_002474.3(MYH11):c.5247G>A (p.Gln1749=) rs757501817 0.00014
NM_004329.3(BMPR1A):c.1235T>C (p.Val412Ala) rs576247658 0.00014
NM_004329.3(BMPR1A):c.676-6A>C rs186999445 0.00014
NM_004656.4(BAP1):c.2091C>T (p.Ser697=) rs754513396 0.00014
NM_005359.6(SMAD4):c.521C>A (p.Thr174Asn) rs138800446 0.00014
NM_007194.4(CHEK2):c.-4C>T rs374938148 0.00014
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser) rs587780179 0.00014
NM_000051.4(ATM):c.2606C>G (p.Ala869Gly) rs145513717 0.00013
NM_000051.4(ATM):c.8560C>T (p.Arg2854Cys) rs201958469 0.00013
NM_000053.4(ATP7B):c.1426G>A (p.Ala476Thr) rs139289704 0.00013
NM_000059.4(BRCA2):c.2274T>G (p.Ser758Arg) rs142243359 0.00013
NM_000069.3(CACNA1S):c.4954C>T (p.Arg1652Cys) rs143933255 0.00013
NM_000090.4(COL3A1):c.3299G>A (p.Arg1100His) rs370069953 0.00013
NM_000138.5(FBN1):c.6054C>T (p.Val2018=) rs542953863 0.00013
NM_000169.3(GLA):c.1088G>A (p.Arg363His) rs111422676 0.00013
NM_000179.3(MSH6):c.102C>A (p.Ala34=) rs201132087 0.00013
NM_000179.3(MSH6):c.187T>C (p.Ser63Pro) rs763702846 0.00013
NM_000179.3(MSH6):c.650A>G (p.Asp217Gly) rs554012110 0.00013
NM_000251.3(MSH2):c.505A>G (p.Ile169Val) rs63750716 0.00013
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr) rs45478699 0.00013
NM_000268.4(NF2):c.1439C>T (p.Thr480Met) rs145666157 0.00013
NM_000455.5(STK11):c.1071G>T (p.Glu357Asp) rs556651007 0.00013
NM_000465.4(BARD1):c.659T>C (p.Leu220Ser) rs138593305 0.00013
NM_000527.5(LDLR):c.1867A>G (p.Ile623Val) rs555292896 0.00013
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys) rs63750649 0.00013
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu) rs374704824 0.00013
NM_000540.3(RYR1):c.10441-10G>A rs200939091 0.00013
NM_000540.3(RYR1):c.11517C>T (p.Ser3839=) rs151239950 0.00013
NM_000540.3(RYR1):c.14270G>A (p.Arg4757His) rs768360593 0.00013
NM_000540.3(RYR1):c.2223C>T (p.Asp741=) rs150831055 0.00013
NM_001005242.3(PKP2):c.1842A>G (p.Gln614=) rs138901574 0.00013
NM_001035.3(RYR2):c.11811C>T (p.His3937=) rs370924416 0.00013
NM_001035.3(RYR2):c.3153C>T (p.Arg1051=) rs397516524 0.00013
NM_001048174.2(MUTYH):c.849+3A>C rs587780751 0.00013
NM_004656.4(BAP1):c.1735G>A (p.Gly579Arg) rs370004702 0.00013
NM_007194.4(CHEK2):c.7C>T (p.Arg3Trp) rs199708878 0.00013
NM_007294.4(BRCA1):c.2773A>C (p.Ile925Leu) rs4986847 0.00013
NM_007294.4(BRCA1):c.3691T>C (p.Phe1231Leu) rs41293451 0.00013
NM_024422.6(DSC2):c.1788G>A (p.Ala596=) rs146161960 0.00013
NM_024675.4(PALB2):c.3257G>A (p.Arg1086Gln) rs146377793 0.00013
NM_032043.3(BRIP1):c.3099T>C (p.Pro1033=) rs202228407 0.00013
NM_000038.6(APC):c.1631T>C (p.Ile544Thr) rs144056494 0.00012
NM_000038.6(APC):c.2204C>T (p.Ala735Val) rs147655929 0.00012
NM_000038.6(APC):c.450A>G (p.Lys150=) rs116020626 0.00012
NM_000038.6(APC):c.5392A>G (p.Asn1798Asp) rs200794097 0.00012
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu) rs587780600 0.00012
NM_000038.6(APC):c.6873A>T (p.Gln2291His) rs148878262 0.00012
NM_000059.4(BRCA2):c.1889C>T (p.Thr630Ile) rs80358479 0.00012
NM_000059.4(BRCA2):c.2919G>A (p.Ser973=) rs45525041 0.00012
NM_000059.4(BRCA2):c.3055C>G (p.Leu1019Val) rs55638633 0.00012
NM_000138.5(FBN1):c.185G>A (p.Arg62His) rs145942328 0.00012
NM_000138.5(FBN1):c.6576C>T (p.Cys2192=) rs369058466 0.00012
NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser) rs368838866 0.00012
NM_000535.7(PMS2):c.1279C>T (p.Arg427Cys) rs376042544 0.00012
NM_000535.7(PMS2):c.2445G>A (p.Ser815=) rs753199796 0.00012
NM_004360.5(CDH1):c.1143G>C (p.Lys381Asn) rs143727462 0.00012
NM_004360.5(CDH1):c.1409C>T (p.Thr470Ile) rs370864592 0.00012
NM_004656.4(BAP1):c.1408G>A (p.Gly470Arg) rs576538858 0.00012
NM_005359.6(SMAD4):c.582A>G (p.Thr194=) rs145805120 0.00012
NM_007294.4(BRCA1):c.1233T>G (p.Asp411Glu) rs80357024 0.00012
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala) rs80357467 0.00012
NM_000038.6(APC):c.277C>G (p.Leu93Val) rs201567345 0.00011
NM_000038.6(APC):c.3875C>T (p.Thr1292Met) rs371113837 0.00011
NM_000038.6(APC):c.7621A>G (p.Ile2541Val) rs587778033 0.00011
NM_000051.4(ATM):c.5185G>C (p.Val1729Leu) rs3092907 0.00011
NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu) rs201963507 0.00011
NM_000051.4(ATM):c.7919C>T (p.Thr2640Ile) rs4988125 0.00011
NM_000059.4(BRCA2):c.2680G>A (p.Val894Ile) rs28897715 0.00011
NM_000059.4(BRCA2):c.341A>G (p.His114Arg) rs80358586 0.00011
NM_000059.4(BRCA2):c.943T>A (p.Cys315Ser) rs79483201 0.00011
NM_000059.4(BRCA2):c.9501+9A>C rs81002867 0.00011
NM_000069.3(CACNA1S):c.3415-13G>T rs755431424 0.00011
NM_000069.3(CACNA1S):c.951C>T (p.Leu317=) rs773209639 0.00011
NM_000090.4(COL3A1):c.1856C>T (p.Pro619Leu) rs373838193 0.00011
NM_000090.4(COL3A1):c.226A>G (p.Asn76Asp) rs142045411 0.00011
NM_000090.4(COL3A1):c.3818A>G (p.Lys1273Arg) rs144614075 0.00011
NM_000138.5(FBN1):c.1821T>C (p.Asp607=) rs149133920 0.00011
NM_000138.5(FBN1):c.7560G>A (p.Thr2520=) rs760425899 0.00011
NM_000179.3(MSH6):c.124C>T (p.Pro42Ser) rs34014629 0.00011
NM_000179.3(MSH6):c.628-7C>A rs373129248 0.00011
NM_000179.3(MSH6):c.942C>G (p.Ser314Arg) rs150440246 0.00011
NM_000249.4(MLH1):c.626A>G (p.Asn209Ser) rs150478207 0.00011
NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys) rs17217723 0.00011
NM_000251.3(MSH2):c.1387-4G>C rs376796243 0.00011
NM_000251.3(MSH2):c.1461C>G (p.Asp487Glu) rs35107951 0.00011
NM_000251.3(MSH2):c.1790A>C (p.Asp597Ala) rs548407418 0.00011
NM_000251.3(MSH2):c.198C>T (p.Tyr66=) rs730881784 0.00011
NM_000251.3(MSH2):c.2203A>G (p.Ile735Val) rs2229061 0.00011
NM_000251.3(MSH2):c.2308A>G (p.Ile770Val) rs63750684 0.00011
NM_000251.3(MSH2):c.2785C>T (p.Arg929Ter) rs551060742 0.00011
NM_000251.3(MSH2):c.508C>G (p.Gln170Glu) rs63750843 0.00011
NM_000251.3(MSH2):c.557A>G (p.Asn186Ser) rs151129360 0.00011
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050 0.00011
NM_000257.4(MYH7):c.3382G>A (p.Ala1128Thr) rs199552354 0.00011
NM_000268.4(NF2):c.465C>T (p.Pro155=) rs374911526 0.00011
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587 0.00011
NM_000368.5(TSC1):c.2075G>A (p.Arg692Gln) rs199755731 0.00011
NM_000455.5(STK11):c.825G>A (p.Pro275=) rs202011521 0.00011
NM_000455.5(STK11):c.900C>T (p.Ile300=) rs546089394 0.00011
NM_000465.4(BARD1):c.1835A>T (p.Asp612Val) rs201140528 0.00011
NM_000527.5(LDLR):c.2106G>A (p.Met702Ile) rs140731590 0.00011
NM_000527.5(LDLR):c.2389+8C>T rs747170426 0.00011
NM_000535.7(PMS2):c.1559C>T (p.Ala520Val) rs63751300 0.00011
NM_000535.7(PMS2):c.1689A>G (p.Arg563=) rs551226281 0.00011
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly) rs116788608 0.00011
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met) rs193922879 0.00011
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys) rs118192172 0.00011
NM_000546.6(TP53):c.97-9C>T rs202217267 0.00011
NM_001048174.2(MUTYH):c.1034C>T (p.Ala345Val) rs35352891 0.00011
NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln) rs34321232 0.00011
NM_004329.3(BMPR1A):c.961C>T (p.Leu321=) rs377412651 0.00011
NM_004329.3(BMPR1A):c.98C>G (p.Thr33Ser) rs142454490 0.00011
NM_004360.5(CDH1):c.*8G>A rs201223411 0.00011
NM_004360.5(CDH1):c.1223C>T (p.Ala408Val) rs138135866 0.00011
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly) rs121964872 0.00011
NM_004415.4(DSP):c.3646A>G (p.Ile1216Val) rs199795359 0.00011
NM_004656.4(BAP1):c.1212C>G (p.Asp404Glu) rs140998455 0.00011
NM_005359.6(SMAD4):c.466A>T (p.Met156Leu) rs534355764 0.00011
NM_007294.4(BRCA1):c.1065G>A (p.Lys355=) rs41286292 0.00011
NM_007294.4(BRCA1):c.2002C>T (p.Leu668Phe) rs80357250 0.00011
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300 0.00011
NM_007294.4(BRCA1):c.3823A>G (p.Ile1275Val) rs80357280 0.00011
NM_007294.4(BRCA1):c.4934G>C (p.Arg1645Thr) rs70953661 0.00011
NM_007294.4(BRCA1):c.693G>A (p.Thr231=) rs62625298 0.00011
NM_007294.4(BRCA1):c.694G>A (p.Asp232Asn) rs55975699 0.00011
NM_024675.4(PALB2):c.1250C>A (p.Ser417Tyr) rs45510998 0.00011
NM_024675.4(PALB2):c.2027T>C (p.Ile676Thr) rs200875161 0.00011
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu) rs28997573 0.00011
NM_000038.6(APC):c.388A>G (p.Ser130Gly) rs150973053 0.00010
NM_000038.6(APC):c.4918C>T (p.Arg1640Trp) rs373440614 0.00010
NM_000051.4(ATM):c.5618G>A (p.Cys1873Tyr) rs587782239 0.00010
NM_000051.4(ATM):c.6572+11C>T rs368049107 0.00010
NM_000051.4(ATM):c.7988T>C (p.Val2663Ala) rs377648506 0.00010
NM_000059.4(BRCA2):c.10045A>G (p.Thr3349Ala) rs80358387 0.00010
NM_000059.4(BRCA2):c.5414A>G (p.Asn1805Ser) rs80358765 0.00010
NM_000069.3(CACNA1S):c.5299C>A (p.Pro1767Thr) rs200434921 0.00010
NM_000090.4(COL3A1):c.3775G>A (p.Ala1259Thr) rs776478974 0.00010
NM_000090.4(COL3A1):c.4301G>A (p.Arg1434His) rs138533702 0.00010
NM_000138.5(FBN1):c.2094G>T (p.Pro698=) rs144775475 0.00010
NM_000138.5(FBN1):c.2892C>T (p.Asp964=) rs116945525 0.00010
NM_000179.3(MSH6):c.1729C>T (p.Arg577Cys) rs542838372 0.00010
NM_000179.3(MSH6):c.1875C>T (p.Ser625=) rs63749886 0.00010
NM_000179.3(MSH6):c.2417C>G (p.Ser806Cys) rs372990379 0.00010
NM_000179.3(MSH6):c.335A>G (p.Asn112Ser) rs587779934 0.00010
NM_000179.3(MSH6):c.3788G>A (p.Arg1263His) rs147852216 0.00010
NM_000249.4(MLH1):c.1964T>C (p.Ile655Thr) rs63751225 0.00010
NM_000314.8(PTEN):c.579G>A (p.Leu193=) rs568851024 0.00010
NM_000455.5(STK11):c.787T>C (p.Leu263=) rs372378119 0.00010
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr) rs114090343 0.00010
NM_000540.3(RYR1):c.14670G>C (p.Val4890=) rs773080803 0.00010
NM_000540.3(RYR1):c.4758G>A (p.Pro1586=) rs374222028 0.00010
NM_001018005.2(TPM1):c.522C>T (p.Ser174=) rs200173919 0.00010
NM_001035.3(RYR2):c.4069G>C (p.Asp1357His) rs193922626 0.00010
NM_001048174.2(MUTYH):c.397G>C (p.Asp133His) rs564930066 0.00010
NM_001943.5(DSG2):c.2643C>T (p.Thr881=) rs180695545 0.00010
NM_002474.3(MYH11):c.5406C>G (p.His1802Gln) rs746211825 0.00010
NM_002878.4(RAD51D):c.137C>G (p.Ser46Cys) rs587780102 0.00010
NM_003242.6(TGFBR2):c.367A>T (p.Met123Leu) rs768385200 0.00010
NM_004360.5(CDH1):c.2451G>A (p.Ala817=) rs149450874 0.00010
NM_004415.4(DSP):c.7278T>C (p.Tyr2426=) rs78843072 0.00010
NM_005359.6(SMAD4):c.424+5G>A rs200772603 0.00010
NM_024675.4(PALB2):c.11C>T (p.Pro4Leu) rs45619737 0.00010
NM_000038.6(APC):c.2586C>G (p.Asn862Lys) rs147972247 0.00009
NM_000038.6(APC):c.5025T>G (p.Val1675=) rs876658169 0.00009
NM_000038.6(APC):c.5072C>T (p.Pro1691Leu) rs1060503346 0.00009
NM_000038.6(APC):c.6525A>G (p.Thr2175=) rs200151646 0.00009
NM_000038.6(APC):c.95A>G (p.Asn32Ser) rs539108537 0.00009
NM_000051.4(ATM):c.4167A>G (p.Thr1389=) rs183214437 0.00009
NM_000051.4(ATM):c.4279G>A (p.Ala1427Thr) rs2229021 0.00009
NM_000051.4(ATM):c.4414T>G (p.Leu1472Val) rs539676759 0.00009
NM_000051.4(ATM):c.5005+7_5005+8del rs587780626 0.00009
NM_000051.4(ATM):c.670A>G (p.Lys224Glu) rs145053092 0.00009
NM_000051.4(ATM):c.7757A>G (p.Asn2586Ser) rs587778079 0.00009
NM_000051.4(ATM):c.8851-3T>G rs748874219 0.00009
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala) rs374094065 0.00009
NM_000053.4(ATP7B):c.3416C>G (p.Ala1139Gly) rs199924281 0.00009
NM_000059.4(BRCA2):c.2233A>G (p.Lys745Glu) rs374691587 0.00009
NM_000059.4(BRCA2):c.2538A>C (p.Ser846=) rs11571654 0.00009
NM_000059.4(BRCA2):c.3262C>T (p.Pro1088Ser) rs80358572 0.00009
NM_000059.4(BRCA2):c.4614T>C (p.Ser1538=) rs45520945 0.00009
NM_000059.4(BRCA2):c.4977C>T (p.Ser1659=) rs45484897 0.00009
NM_000059.4(BRCA2):c.5455C>T (p.Pro1819Ser) rs80358768 0.00009
NM_000059.4(BRCA2):c.6338A>G (p.Asn2113Ser) rs80358874 0.00009
NM_000059.4(BRCA2):c.7006C>T (p.Arg2336Cys) rs431825347 0.00009
NM_000059.4(BRCA2):c.7601C>T (p.Ala2534Val) rs74047012 0.00009
NM_000059.4(BRCA2):c.8215G>A (p.Val2739Ile) rs80359069 0.00009
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817 0.00009
NM_000090.4(COL3A1):c.2498A>G (p.Lys833Arg) rs371344739 0.00009
NM_000138.5(FBN1):c.1345G>A (p.Val449Ile) rs139058991 0.00009
NM_000138.5(FBN1):c.396T>C (p.Asp132=) rs147481356 0.00009
NM_000138.5(FBN1):c.7846A>G (p.Ile2616Val) rs143677764 0.00009
NM_000169.3(GLA):c.865A>G (p.Ile289Val) rs140329381 0.00009
NM_000179.3(MSH6):c.1063G>A (p.Gly355Ser) rs587778531 0.00009
NM_000179.3(MSH6):c.3439-10T>A rs730881819 0.00009
NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser) rs147453999 0.00009
NM_000179.3(MSH6):c.660A>C (p.Glu220Asp) rs1800938 0.00009
NM_000249.4(MLH1):c.1709A>G (p.Asn570Ser) rs375853155 0.00009
NM_000249.4(MLH1):c.1808C>G (p.Pro603Arg) rs63750876 0.00009
NM_000251.3(MSH2):c.114C>G (p.Asp38Glu) rs587779074 0.00009
NM_000251.3(MSH2):c.1505A>G (p.Asp502Gly) rs148192104 0.00009
NM_000251.3(MSH2):c.97A>C (p.Thr33Pro) rs63751107 0.00009
NM_000257.4(MYH7):c.2183C>T (p.Ala728Val) rs121913644 0.00009
NM_000268.4(NF2):c.1540A>G (p.Met514Val) rs201527155 0.00009
NM_000321.3(RB1):c.628G>T (p.Asp210Tyr) rs148992508 0.00009
NM_000455.5(STK11):c.735-9G>A rs201899557 0.00009
NM_000465.4(BARD1):c.1127C>T (p.Ser376Leu) rs587782333 0.00009
NM_000465.4(BARD1):c.1694G>A (p.Arg565His) rs146946984 0.00009
NM_000465.4(BARD1):c.2116A>G (p.Lys706Glu) rs149262370 0.00009
NM_000465.4(BARD1):c.764A>G (p.Asn255Ser) rs138904906 0.00009
NM_000527.5(LDLR):c.1586+15C>T rs371716068 0.00009
NM_000527.5(LDLR):c.907C>T (p.Arg303Trp) rs151207122 0.00009
NM_000535.7(PMS2):c.993C>T (p.Cys331=) rs186577215 0.00009
NM_000540.3(RYR1):c.13849G>A (p.Gly4617Arg) rs202226983 0.00009
NM_000546.6(TP53):c.474C>T (p.Arg158=) rs139200646 0.00009
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) rs149633775 0.00009
NM_000548.5(TSC2):c.5142G>A (p.Gln1714=) rs147147042 0.00009
NM_001048174.2(MUTYH):c.1171G>A (p.Ala391Thr) rs587780744 0.00009
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) rs140342925 0.00009
NM_001048174.2(MUTYH):c.836G>A (p.Arg279Gln) rs140156029 0.00009
NM_001276345.2(TNNT2):c.720-4G>T rs201753429 0.00009
NM_002474.3(MYH11):c.5226G>C (p.Glu1742Asp) rs144421849 0.00009
NM_002474.3(MYH11):c.5277C>T (p.Val1759=) rs112564682 0.00009
NM_004329.3(BMPR1A):c.1348G>A (p.Val450Met) rs55932635 0.00009
NM_004329.3(BMPR1A):c.33G>A (p.Leu11=) rs535411352 0.00009
NM_004360.5(CDH1):c.1359C>T (p.His453=) rs114861467 0.00009
NM_004360.5(CDH1):c.1888C>G (p.Leu630Val) rs2276331 0.00009
NM_004360.5(CDH1):c.1996A>C (p.Asn666His) rs150427791 0.00009
NM_004360.5(CDH1):c.894C>T (p.Ala298=) rs139110184 0.00009
NM_004656.4(BAP1):c.121G>A (p.Gly41Ser) rs372586694 0.00009
NM_004656.4(BAP1):c.1609A>G (p.Ser537Gly) rs747109385 0.00009
NM_004656.4(BAP1):c.1872G>A (p.Gly624=) rs375950004 0.00009
NM_005902.4(SMAD3):c.885G>A (p.Arg295=) rs139616052 0.00009
NM_007194.4(CHEK2):c.*7T>C rs121908710 0.00009
NM_007194.4(CHEK2):c.319+2T>A rs587782401 0.00009
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_007194.4(CHEK2):c.556A>C (p.Asn186His) rs146198085 0.00009
NM_007294.4(BRCA1):c.314A>G (p.Tyr105Cys) rs28897673 0.00009
NM_007294.4(BRCA1):c.5152+20T>A rs376836050 0.00009
NM_024675.4(PALB2):c.1544A>G (p.Lys515Arg) rs515726072 0.00009
NM_024675.4(PALB2):c.1623G>A (p.Arg541=) rs745665968 0.00009
NM_024675.4(PALB2):c.2379C>T (p.Gly793=) rs377626805 0.00009
NM_024675.4(PALB2):c.344G>T (p.Gly115Val) rs145598272 0.00009
NM_024675.4(PALB2):c.3508C>T (p.His1170Tyr) rs200283306 0.00009
NM_032043.3(BRIP1):c.316C>T (p.Arg106Cys) rs587780247 0.00009
NM_000038.6(APC):c.573T>C (p.Tyr191=) rs185154886 0.00008
NM_000038.6(APC):c.6679G>T (p.Gly2227Cys) rs367905430 0.00008
NM_000038.6(APC):c.721G>A (p.Glu241Lys) rs777603154 0.00008
NM_000038.6(APC):c.7471A>G (p.Met2491Val) rs375674083 0.00008
NM_000051.4(ATM):c.2466+7A>G rs55812024 0.00008
NM_000051.4(ATM):c.6503C>T (p.Ser2168Leu) rs200431631 0.00008
NM_000051.4(ATM):c.7778A>G (p.Gln2593Arg) rs587779867 0.00008
NM_000059.4(BRCA2):c.3420T>C (p.Ser1140=) rs118093942 0.00008
NM_000059.4(BRCA2):c.5635G>A (p.Glu1879Lys) rs55996097 0.00008
NM_000059.4(BRCA2):c.6748A>G (p.Thr2250Ala) rs80358899 0.00008
NM_000059.4(BRCA2):c.9872C>G (p.Ser3291Cys) rs200210279 0.00008
NM_000138.5(FBN1):c.3226A>C (p.Ile1076Leu) rs201156527 0.00008
NM_000179.3(MSH6):c.2281A>G (p.Arg761Gly) rs199876321 0.00008
NM_000249.4(MLH1):c.1558+5G>A rs199935667 0.00008
NM_000249.4(MLH1):c.1742C>T (p.Pro581Leu) rs63751684 0.00008
NM_000251.3(MSH2):c.1159C>T (p.Leu387Phe) rs751249745 0.00008
NM_000251.3(MSH2):c.1217G>A (p.Arg406Gln) rs146567853 0.00008
NM_000251.3(MSH2):c.2500G>A (p.Ala834Thr) rs63750757 0.00008
NM_000251.3(MSH2):c.4G>A (p.Ala2Thr) rs63750466 0.00008
NM_000251.3(MSH2):c.820A>G (p.Ile274Val) rs371944271 0.00008
NM_000455.5(STK11):c.920+5G>A rs587780013 0.00008
NM_000527.5(LDLR):c.1085A>C (p.Asp362Ala) rs138315511 0.00008
NM_000527.5(LDLR):c.1503G>A (p.Ala501=) rs368889457 0.00008
NM_000527.5(LDLR):c.1580T>C (p.Val527Ala) rs730882107 0.00008
NM_000527.5(LDLR):c.1764C>T (p.Ile588=) rs778595540 0.00008
NM_000527.5(LDLR):c.2358C>T (p.Ser786=) rs183255090 0.00008
NM_000535.7(PMS2):c.1399G>A (p.Val467Ile) rs373611083 0.00008
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp) rs199739859 0.00008
NM_000535.7(PMS2):c.735G>T (p.Leu245=) rs373366661 0.00008
NM_000540.3(RYR1):c.8715G>C (p.Leu2905=) rs368684717 0.00008
NM_001035.3(RYR2):c.4101A>G (p.Lys1367=) rs376792533 0.00008
NM_001035.3(RYR2):c.9820A>G (p.Asn3274Asp) rs751551400 0.00008
NM_001048174.2(MUTYH):c.1400G>A (p.Arg467His) rs144111588 0.00008
NM_001048174.2(MUTYH):c.901G>A (p.Val301Met) rs147718169 0.00008
NM_001048174.2(MUTYH):c.929A>G (p.Gln310Arg) rs199742231 0.00008
NM_002474.3(MYH11):c.300C>T (p.Ser100=) rs111662326 0.00008
NM_002474.3(MYH11):c.3293+5C>T rs766421052 0.00008
NM_002878.4(RAD51D):c.355T>C (p.Cys119Arg) rs201313861 0.00008
NM_002878.4(RAD51D):c.973G>A (p.Gly325Ser) rs587780106 0.00008
NM_004360.5(CDH1):c.1020G>A (p.Thr340=) rs61747632 0.00008
NM_004360.5(CDH1):c.1314A>G (p.Thr438=) rs547316616 0.00008
NM_004360.5(CDH1):c.164T>G (p.Val55Gly) rs587778174 0.00008
NM_004360.5(CDH1):c.387+5G>A rs113055163 0.00008
NM_004656.4(BAP1):c.869A>G (p.Asn290Ser) rs747079481 0.00008
NM_007194.4(CHEK2):c.1259+8A>G rs368388249 0.00008
NM_007194.4(CHEK2):c.1597A>G (p.Thr533Ala) rs562517792 0.00008
NM_007294.4(BRCA1):c.3649T>C (p.Ser1217Pro) rs273900712 0.00008
NM_007294.4(BRCA1):c.4644G>A (p.Thr1548=) rs28897692 0.00008
NM_007294.4(BRCA1):c.884A>G (p.Asp295Gly) rs772684048 0.00008
NM_024334.3(TMEM43):c.286C>G (p.Arg96Gly) rs754797146 0.00008
NM_024675.4(PALB2):c.1042C>A (p.Gln348Lys) rs375699023 0.00008
NM_024675.4(PALB2):c.2128A>G (p.Thr710Ala) rs730881887 0.00008
NM_024675.4(PALB2):c.2474G>C (p.Arg825Thr) rs146218439 0.00008
NM_024675.4(PALB2):c.2509G>A (p.Glu837Lys) rs587778587 0.00008
NM_024675.4(PALB2):c.3056T>C (p.Val1019Ala) rs376619846 0.00008
NM_024675.4(PALB2):c.949A>C (p.Thr317Pro) rs587780223 0.00008
NM_058216.3(RAD51C):c.-19G>A rs375889604 0.00008
NM_000038.6(APC):c.1408+3A>G rs534358523 0.00007
NM_000038.6(APC):c.6173G>A (p.Gly2058Asp) rs150140908 0.00007
NM_000038.6(APC):c.6473C>G (p.Pro2158Arg) rs587779804 0.00007
NM_000038.6(APC):c.7717A>G (p.Ile2573Val) rs145444830 0.00007
NM_000051.4(ATM):c.2021A>G (p.His674Arg) rs201762714 0.00007
NM_000051.4(ATM):c.496+4T>C rs587781375 0.00007
NM_000051.4(ATM):c.749G>A (p.Arg250Gln) rs56123940 0.00007
NM_000053.4(ATP7B):c.1947-4C>T rs74904335 0.00007
NM_000059.4(BRCA2):c.1167G>A (p.Pro389=) rs148607710 0.00007
NM_000059.4(BRCA2):c.1644G>A (p.Gln548=) rs55986646 0.00007
NM_000059.4(BRCA2):c.257T>C (p.Leu86Pro) rs572782576 0.00007
NM_000059.4(BRCA2):c.3173A>G (p.Lys1058Arg) rs431825302 0.00007
NM_000059.4(BRCA2):c.3568C>T (p.Arg1190Trp) rs80358604 0.00007
NM_000059.4(BRCA2):c.3839A>T (p.Asp1280Val) rs56337919 0.00007
NM_000059.4(BRCA2):c.6877T>C (p.Phe2293Leu) rs80358912 0.00007
NM_000059.4(BRCA2):c.841G>A (p.Asp281Asn) rs80359088 0.00007
NM_000069.3(CACNA1S):c.1180G>A (p.Asp394Asn) rs112236248 0.00007
NM_000179.3(MSH6):c.1054G>A (p.Val352Ile) rs730881787 0.00007
NM_000179.3(MSH6):c.2384T>C (p.Ile795Thr) rs202127474 0.00007
NM_000249.4(MLH1):c.2038T>G (p.Cys680Gly) rs63750809 0.00007
NM_000249.4(MLH1):c.649C>T (p.Arg217Cys) rs4986984 0.00007
NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala) rs267607939 0.00007
NM_000251.3(MSH2):c.1087G>T (p.Val363Leu) rs377345366 0.00007
NM_000251.3(MSH2):c.1560A>G (p.Gly520=) rs63750820 0.00007
NM_000251.3(MSH2):c.2732T>G (p.Leu911Arg) rs41295182 0.00007
NM_000251.3(MSH2):c.818T>C (p.Val273Ala) rs144288433 0.00007
NM_000256.3(MYBPC3):c.3107G>A (p.Arg1036His) rs374255381 0.00007
NM_000455.5(STK11):c.1127A>C (p.Glu376Ala) rs373888280 0.00007
NM_000455.5(STK11):c.357C>T (p.Asn119=) rs372511774 0.00007
NM_000455.5(STK11):c.863-16G>A rs373096204 0.00007
NM_000527.5(LDLR):c.2252G>A (p.Arg751Gln) rs200142970 0.00007
NM_000527.5(LDLR):c.760C>G (p.Gln254Glu) rs759109699 0.00007
NM_000535.7(PMS2):c.1280G>A (p.Arg427His) rs112902065 0.00007
NM_000535.7(PMS2):c.1717A>T (p.Thr573Ser) rs63751211 0.00007
NM_000535.7(PMS2):c.230A>C (p.Glu77Ala) rs777095030 0.00007
NM_000535.7(PMS2):c.2559C>G (p.Ile853Met) rs371673459 0.00007
NM_000535.7(PMS2):c.384G>A (p.Ser128=) rs371342884 0.00007
NM_000540.3(RYR1):c.2251G>A (p.Val751Met) rs767667578 0.00007
NM_000540.3(RYR1):c.6670C>T (p.Arg2224Cys) rs199870223 0.00007
NM_000540.3(RYR1):c.8342T>C (p.Ile2781Thr) rs767805554 0.00007
NM_000548.5(TSC2):c.710C>T (p.Pro237Leu) rs139060277 0.00007
NM_001048174.2(MUTYH):c.1107G>T (p.Leu369=) rs201412035 0.00007
NM_001048174.2(MUTYH):c.262C>T (p.Arg88Trp) rs373766973 0.00007
NM_002474.3(MYH11):c.1056G>A (p.Ser352=) rs201256839 0.00007
NM_002474.3(MYH11):c.1434C>T (p.Tyr478=) rs763773359 0.00007
NM_002474.3(MYH11):c.4681G>A (p.Ala1561Thr) rs138863103 0.00007
NM_002878.4(RAD51D):c.394G>A (p.Val132Ile) rs201141245 0.00007
NM_004329.3(BMPR1A):c.478A>G (p.Met160Val) rs145101532 0.00007
NM_004329.3(BMPR1A):c.499A>G (p.Met167Val) rs200951235 0.00007
NM_004360.5(CDH1):c.1289T>G (p.Val430Gly) rs730881665 0.00007
NM_004360.5(CDH1):c.1297G>A (p.Asp433Asn) rs199886166 0.00007
NM_004360.5(CDH1):c.1298A>G (p.Asp433Gly) rs376097289 0.00007
NM_004360.5(CDH1):c.854C>T (p.Thr285Ile) rs587781634 0.00007
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His) rs121908706 0.00007
NM_007194.4(CHEK2):c.14C>T (p.Ser5Leu) rs201084748 0.00007
NM_007294.4(BRCA1):c.1865C>T (p.Ala622Val) rs56039126 0.00007
NM_007294.4(BRCA1):c.692C>T (p.Thr231Met) rs80357001 0.00007
NM_024675.4(PALB2):c.2100A>T (p.Ser700=) rs757145884 0.00007
NM_000038.6(APC):c.1005A>G (p.Leu335=) rs3797704 0.00006
NM_000038.6(APC):c.1193A>G (p.Lys398Arg) rs145912662 0.00006
NM_000038.6(APC):c.2110G>A (p.Val704Ile) rs367804502 0.00006
NM_000038.6(APC):c.2461G>A (p.Val821Ile) rs138498551 0.00006
NM_000038.6(APC):c.2527A>G (p.Ser843Gly) rs536223189 0.00006
NM_000038.6(APC):c.2719G>C (p.Gly907Arg) rs771458366 0.00006
NM_000038.6(APC):c.4072G>A (p.Ala1358Thr) rs139618756 0.00006
NM_000038.6(APC):c.4249A>C (p.Ile1417Leu) rs200166878 0.00006
NM_000038.6(APC):c.4478C>T (p.Thr1493Met) rs374892194 0.00006
NM_000038.6(APC):c.5026A>G (p.Arg1676Gly) rs370560998 0.00006
NM_000038.6(APC):c.5140G>A (p.Asp1714Asn) rs148275069 0.00006
NM_000038.6(APC):c.5216A>G (p.Lys1739Arg) rs769558291 0.00006
NM_000038.6(APC):c.5774C>A (p.Pro1925His) rs762682111 0.00006
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr) rs372305287 0.00006
NM_000038.6(APC):c.7468G>A (p.Asp2490Asn) rs538230198 0.00006
NM_000038.6(APC):c.7574G>A (p.Arg2525His) rs762034315 0.00006
NM_000038.6(APC):c.7577A>G (p.His2526Arg) rs750012595 0.00006
NM_000038.6(APC):c.8107A>G (p.Lys2703Glu) rs730881270 0.00006
NM_000051.4(ATM):c.1010G>A (p.Arg337His) rs202160435 0.00006
NM_000051.4(ATM):c.198A>G (p.Lys66=) rs540920248 0.00006
NM_000051.4(ATM):c.2804C>T (p.Thr935Met) rs3218708 0.00006
NM_000051.4(ATM):c.3588A>G (p.Lys1196=) rs376524625 0.00006
NM_000051.4(ATM):c.3614G>A (p.Arg1205His) rs769106895 0.00006
NM_000051.4(ATM):c.3689A>G (p.Asn1230Ser) rs587782195 0.00006
NM_000051.4(ATM):c.6443A>G (p.Lys2148Arg) rs730881382 0.00006
NM_000051.4(ATM):c.8921C>T (p.Pro2974Leu) rs139379666 0.00006
NM_000051.4(ATM):c.946T>C (p.Tyr316His) rs142317485 0.00006
NM_000053.4(ATP7B):c.1351G>A (p.Gly451Ser) rs186300062 0.00006
NM_000053.4(ATP7B):c.496C>T (p.Arg166Trp) rs755476114 0.00006
NM_000059.4(BRCA2):c.1021T>C (p.Cys341Arg) rs55833327 0.00006
NM_000059.4(BRCA2):c.1096T>G (p.Leu366Val) rs587779357 0.00006
NM_000059.4(BRCA2):c.1362A>G (p.Lys454=) rs55919657 0.00006
NM_000059.4(BRCA2):c.1662T>G (p.Cys554Trp) rs80358451 0.00006
NM_000059.4(BRCA2):c.2320A>G (p.Thr774Ala) rs55968715 0.00006
NM_000059.4(BRCA2):c.2957A>G (p.Asn986Ser) rs28897718 0.00006
NM_000059.4(BRCA2):c.3073A>G (p.Lys1025Glu) rs80358550 0.00006
NM_000059.4(BRCA2):c.4828G>A (p.Val1610Met) rs80358705 0.00006
NM_000059.4(BRCA2):c.4915G>A (p.Val1639Ile) rs80358716 0.00006
NM_000059.4(BRCA2):c.6215C>G (p.Ser2072Cys) rs80358862 0.00006
NM_000059.4(BRCA2):c.6541G>C (p.Gly2181Arg) rs371067421 0.00006
NM_000059.4(BRCA2):c.7051G>A (p.Ala2351Thr) rs80358930 0.00006
NM_000059.4(BRCA2):c.831T>G (p.Asn277Lys) rs28897705 0.00006
NM_000059.4(BRCA2):c.9454G>A (p.Glu3152Lys) rs80359218 0.00006
NM_000069.3(CACNA1S):c.2630C>T (p.Ala877Val) rs200646947 0.00006
NM_000069.3(CACNA1S):c.3606C>T (p.Ile1202=) rs189797100 0.00006
NM_000069.3(CACNA1S):c.4731C>G (p.Asp1577Glu) rs202120583 0.00006
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr) rs199907548 0.00006
NM_000090.4(COL3A1):c.1165A>T (p.Asn389Tyr) rs200394946 0.00006
NM_000090.4(COL3A1):c.1526G>A (p.Arg509His) rs568986390 0.00006
NM_000090.4(COL3A1):c.217G>C (p.Asp73His) rs200246388 0.00006
NM_000090.4(COL3A1):c.3061C>A (p.Leu1021Ile) rs139619440 0.00006
NM_000090.4(COL3A1):c.3390C>T (p.Ile1130=) rs148918486 0.00006
NM_000090.4(COL3A1):c.898-5T>C rs535434618 0.00006
NM_000090.4(COL3A1):c.91G>C (p.Gly31Arg) rs374537884 0.00006
NM_000138.5(FBN1):c.1316G>A (p.Arg439Gln) rs568810058 0.00006
NM_000138.5(FBN1):c.2901C>T (p.Cys967=) rs755610084 0.00006
NM_000138.5(FBN1):c.4211-10C>T rs28730793 0.00006
NM_000138.5(FBN1):c.5672-15C>G rs776163620 0.00006
NM_000138.5(FBN1):c.6302C>T (p.Thr2101Met) rs200816828 0.00006
NM_000138.5(FBN1):c.7516G>A (p.Gly2506Ser) rs756295016 0.00006
NM_000138.5(FBN1):c.8310C>T (p.His2770=) rs112189340 0.00006
NM_000179.3(MSH6):c.1019T>C (p.Phe340Ser) rs61753793 0.00006
NM_000179.3(MSH6):c.1050C>T (p.Ala350=) rs730881802 0.00006
NM_000179.3(MSH6):c.197C>T (p.Pro66Leu) rs730881812 0.00006
NM_000179.3(MSH6):c.2724A>G (p.Glu908=) rs35389622 0.00006
NM_000179.3(MSH6):c.3283C>T (p.Arg1095Cys) rs376243329 0.00006
NM_000179.3(MSH6):c.4000C>T (p.Arg1334Trp) rs773763465 0.00006
NM_000179.3(MSH6):c.643G>A (p.Val215Ile) rs145959653 0.00006
NM_000179.3(MSH6):c.831A>C (p.Glu277Asp) rs374486449 0.00006
NM_000249.4(MLH1):c.1013A>G (p.Asn338Ser) rs63751467 0.00006
NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg) rs63750527 0.00006
NM_000249.4(MLH1):c.2174G>A (p.Arg725His) rs566928243 0.00006
NM_000249.4(MLH1):c.552A>T (p.Ser184=) rs35225190 0.00006
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys) rs63750796 0.00006
NM_000251.3(MSH2):c.1321A>C (p.Thr441Pro) rs587779086 0.00006
NM_000251.3(MSH2):c.2503A>C (p.Asn835His) rs41295296 0.00006
NM_000251.3(MSH2):c.382C>G (p.Leu128Val) rs145649774 0.00006
NM_000251.3(MSH2):c.499G>C (p.Asp167His) rs63750255 0.00006
NM_000251.3(MSH2):c.512G>A (p.Arg171Lys) rs63750902 0.00006
NM_000251.3(MSH2):c.944G>T (p.Gly315Val) rs202026056 0.00006
NM_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys) rs573916965 0.00006
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg) rs397515912 0.00006
NM_000257.4(MYH7):c.1000-7C>T rs200129563 0.00006
NM_000257.4(MYH7):c.1322C>T (p.Thr441Met) rs121913653 0.00006
NM_000268.4(NF2):c.1392G>A (p.Ala464=) rs375819833 0.00006
NM_000368.5(TSC1):c.1808C>T (p.Pro603Leu) rs751247705 0.00006
NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp) rs144467873 0.00006
NM_000432.4(MYL2):c.275-7G>A rs373241541 0.00006
NM_000455.5(STK11):c.1027G>A (p.Asp343Asn) rs368547224 0.00006
NM_000455.5(STK11):c.1069G>A (p.Glu357Lys) rs759473833 0.00006
NM_000455.5(STK11):c.1257C>T (p.Ser419=) rs375328708 0.00006
NM_000455.5(STK11):c.125G>T (p.Arg42Leu) rs148830698 0.00006
NM_000455.5(STK11):c.842C>T (p.Pro281Leu) rs121913322 0.00006
NM_000455.5(STK11):c.921-10G>A rs183406870 0.00006
NM_000465.4(BARD1):c.119C>T (p.Ala40Val) rs71579841 0.00006
NM_000465.4(BARD1):c.1240A>T (p.Met414Leu) rs759601398 0.00006
NM_000465.4(BARD1):c.1586G>A (p.Arg529Gln) rs753479021 0.00006
NM_000465.4(BARD1):c.1793C>A (p.Thr598Asn) rs376256852 0.00006
NM_000465.4(BARD1):c.1973G>A (p.Arg658His) rs377227840 0.00006
NM_000465.4(BARD1):c.716T>A (p.Leu239Gln) rs200359745 0.00006
NM_000527.5(LDLR):c.1080T>G (p.Asp360Glu) rs749322464 0.00006
NM_000527.5(LDLR):c.108C>T (p.Asp36=) rs373144619 0.00006
NM_000527.5(LDLR):c.1359-31G>A rs369781605 0.00006
NM_000527.5(LDLR):c.1359-3C>T rs775657243 0.00006
NM_000527.5(LDLR):c.1516G>A (p.Val506Met) rs373848925 0.00006
NM_000527.5(LDLR):c.1846-10G>T rs368243304 0.00006
NM_000527.5(LDLR):c.1988-5C>G rs375877599 0.00006
NM_000527.5(LDLR):c.2098G>A (p.Asp700Asn) rs375009082 0.00006
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met) rs138477254 0.00006
NM_000527.5(LDLR):c.2320G>A (p.Asp774Asn) rs138190838 0.00006
NM_000527.5(LDLR):c.233G>A (p.Arg78His) rs146675823 0.00006
NM_000527.5(LDLR):c.313C>T (p.Pro105Ser) rs13306510 0.00006
NM_000527.5(LDLR):c.344G>A (p.Arg115His) rs201102461 0.00006
NM_000527.5(LDLR):c.681C>T (p.Asp227=) rs121908028 0.00006
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn) rs121908030 0.00006
NM_000527.5(LDLR):c.967G>A (p.Gly323Ser) rs373869746 0.00006
NM_000535.7(PMS2):c.1169C>T (p.Ala390Val) rs587780039 0.00006
NM_000535.7(PMS2):c.1379G>A (p.Gly460Asp) rs150201462 0.00006
NM_000535.7(PMS2):c.1394A>G (p.Lys465Arg) rs141084758 0.00006
NM_000535.7(PMS2):c.1510G>C (p.Glu504Gln) rs368516768 0.00006
NM_000535.7(PMS2):c.1577A>G (p.Asp526Gly) rs143235330 0.00006
NM_000535.7(PMS2):c.1937G>T (p.Arg646Met) rs372341850 0.00006
NM_000535.7(PMS2):c.353+6A>G rs376449640 0.00006
NM_000535.7(PMS2):c.944G>A (p.Arg315Gln) rs116314131 0.00006
NM_000540.3(RYR1):c.2844C>T (p.Asn948=) rs761045773 0.00006
NM_000540.3(RYR1):c.2956C>T (p.Arg986Cys) rs150993059 0.00006
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593 0.00006
NM_000546.6(TP53):c.248C>T (p.Ala83Val) rs201717599 0.00006
NM_000548.5(TSC2):c.2071C>T (p.Arg691Cys) rs760489473 0.00006
NM_000548.5(TSC2):c.3762G>A (p.Ser1254=) rs144891432 0.00006
NM_000548.5(TSC2):c.5117G>A (p.Arg1706His) rs45517392 0.00006
NM_000548.5(TSC2):c.5319T>C (p.His1773=) rs536518032 0.00006
NM_001018005.2(TPM1):c.27G>A (p.Gln9=) rs397516365 0.00006
NM_001035.3(RYR2):c.10725+4A>T rs116444428 0.00006
NM_001048174.2(MUTYH):c.461G>T (p.Arg154Leu) rs143353451 0.00006
NM_001048174.2(MUTYH):c.488G>A (p.Arg163Gln) rs369677603 0.00006
NM_001276345.2(TNNT2):c.601-8C>T rs397516475 0.00006
NM_002474.3(MYH11):c.3235G>A (p.Ala1079Thr) rs140479999 0.00006
NM_002474.3(MYH11):c.4096A>G (p.Ile1366Val) rs147127121 0.00006
NM_002474.3(MYH11):c.5666C>T (p.Ala1889Val) rs369950711 0.00006
NM_002878.4(RAD51D):c.715C>T (p.Arg239Trp) rs770250516 0.00006
NM_004329.3(BMPR1A):c.118G>A (p.Asp40Asn) rs587781556 0.00006
NM_004329.3(BMPR1A):c.1520A>G (p.Asn507Ser) rs750840234 0.00006
NM_004360.5(CDH1):c.214G>A (p.Asp72Asn) rs35606263 0.00006
NM_004360.5(CDH1):c.2343A>T (p.Glu781Asp) rs587780119 0.00006
NM_004360.5(CDH1):c.2637C>T (p.Gly879=) rs141001592 0.00006
NM_004360.5(CDH1):c.393C>T (p.Ser131=) rs145430811 0.00006
NM_004360.5(CDH1):c.48+15_48+16del rs730881655 0.00006
NM_004656.4(BAP1):c.1781G>C (p.Gly594Ala) rs144172190 0.00006
NM_007194.4(CHEK2):c.1260-10C>G rs730881706 0.00006
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu) rs587780180 0.00006
NM_007194.4(CHEK2):c.539G>A (p.Arg180His) rs137853009 0.00006
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) rs121908701 0.00006
NM_007294.4(BRCA1):c.1243G>A (p.Val415Ile) rs587782770 0.00006
NM_007294.4(BRCA1):c.135-3T>C rs759417413 0.00006
NM_007294.4(BRCA1):c.1724A>G (p.Glu575Gly) rs111539978 0.00006
NM_007294.4(BRCA1):c.1747A>G (p.Lys583Glu) rs80356928 0.00006
NM_007294.4(BRCA1):c.1802A>G (p.His601Arg) rs371631805 0.00006
NM_007294.4(BRCA1):c.2412G>C (p.Gln804His) rs55746541 0.00006
NM_007294.4(BRCA1):c.301+7G>A rs80358113 0.00006
NM_007294.4(BRCA1):c.3247A>C (p.Met1083Leu) rs397507213 0.00006
NM_007294.4(BRCA1):c.3346G>C (p.Val1116Leu) rs55909400 0.00006
NM_007294.4(BRCA1):c.3608G>A (p.Arg1203Gln) rs55930959 0.00006
NM_007294.4(BRCA1):c.3640G>A (p.Glu1214Lys) rs80356923 0.00006
NM_007294.4(BRCA1):c.3739G>A (p.Val1247Ile) rs80357191 0.00006
NM_007294.4(BRCA1):c.4636G>A (p.Asp1546Asn) rs28897691 0.00006
NM_007294.4(BRCA1):c.878C>G (p.Thr293Ser) rs747172803 0.00006
NM_007294.4(BRCA1):c.946A>G (p.Ser316Gly) rs55874646 0.00006
NM_016203.4(PRKAG2):c.130G>A (p.Ala44Thr) rs144857453 0.00006
NM_024675.4(PALB2):c.-10C>T rs1038099508 0.00006
NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys) rs200620434 0.00006
NM_024675.4(PALB2):c.2506G>C (p.Val836Leu) rs536644825 0.00006
NM_024675.4(PALB2):c.3428T>A (p.Leu1143His) rs62625284 0.00006
NM_024675.4(PALB2):c.765T>C (p.Asp255=) rs45465299 0.00006
NM_024675.4(PALB2):c.929G>A (p.Ser310Asn) rs370887726 0.00006
NM_032043.3(BRIP1):c.1629-3T>C rs587780828 0.00006
NM_032043.3(BRIP1):c.3103C>T (p.Arg1035Cys) rs45437094 0.00006
NM_032043.3(BRIP1):c.653G>A (p.Cys218Tyr) rs754242563 0.00006
NM_032043.3(BRIP1):c.689C>T (p.Ser230Leu) rs759031349 0.00006
NM_058216.3(RAD51C):c.134A>G (p.Glu45Gly) rs587781383 0.00006
NM_058216.3(RAD51C):c.14C>T (p.Thr5Met) rs201523760 0.00006
NM_000038.6(APC):c.1553C>T (p.Thr518Met) rs371453363 0.00005
NM_000038.6(APC):c.2438A>G (p.Asn813Ser) rs201522866 0.00005
NM_000038.6(APC):c.3625G>A (p.Glu1209Lys) rs201185479 0.00005
NM_000038.6(APC):c.4372C>T (p.Pro1458Ser) rs143796828 0.00005
NM_000038.6(APC):c.4424C>T (p.Ala1475Val) rs375380414 0.00005
NM_000038.6(APC):c.5879C>T (p.Pro1960Leu) rs587781546 0.00005
NM_000051.4(ATM):c.3016A>G (p.Met1006Val) rs139893395 0.00005
NM_000059.4(BRCA2):c.1694C>T (p.Ala565Val) rs55821741 0.00005
NM_000059.4(BRCA2):c.2550A>G (p.Gln850=) rs80359785 0.00005
NM_000059.4(BRCA2):c.2884C>T (p.His962Tyr) rs755777807 0.00005
NM_000059.4(BRCA2):c.3539A>G (p.Lys1180Arg) rs28897720 0.00005
NM_000059.4(BRCA2):c.5552T>G (p.Ile1851Ser) rs80358776 0.00005
NM_000059.4(BRCA2):c.6024G>C (p.Lys2008Asn) rs56324666 0.00005
NM_000059.4(BRCA2):c.695A>G (p.Tyr232Cys) rs372188754 0.00005
NM_000059.4(BRCA2):c.7052C>G (p.Ala2351Gly) rs80358932 0.00005
NM_000059.4(BRCA2):c.750G>A (p.Val250=) rs143214959 0.00005
NM_000059.4(BRCA2):c.8525G>A (p.Arg2842His) rs80359105 0.00005
NM_000059.4(BRCA2):c.8755-9T>C rs397507413 0.00005
NM_000059.4(BRCA2):c.8807T>C (p.Leu2936Ser) rs398122714 0.00005
NM_000059.4(BRCA2):c.9353T>C (p.Met3118Thr) rs56204128 0.00005
NM_000059.4(BRCA2):c.9592T>C (p.Cys3198Arg) rs80359229 0.00005
NM_000059.4(BRCA2):c.9738C>T (p.Ala3246=) rs80359811 0.00005
NM_000069.3(CACNA1S):c.1352C>T (p.Ser451Leu) rs35521793 0.00005
NM_000069.3(CACNA1S):c.398+3G>A rs764710968 0.00005
NM_000077.5(CDKN2A):c.160A>C (p.Met54Leu) rs201314211 0.00005
NM_000138.5(FBN1):c.4321G>A (p.Gly1441Arg) rs372118067 0.00005
NM_000138.5(FBN1):c.7820-4G>A rs750036723 0.00005
NM_000138.5(FBN1):c.7964C>T (p.Ala2655Val) rs202240409 0.00005
NM_000138.5(FBN1):c.8149G>A (p.Glu2717Lys) rs187553035 0.00005
NM_000169.3(GLA):c.755G>C (p.Arg252Thr) rs147026639 0.00005
NM_000179.3(MSH6):c.147C>T (p.Ala49=) rs768803986 0.00005
NM_000179.3(MSH6):c.1746T>G (p.Phe582Leu) rs201518545 0.00005
NM_000179.3(MSH6):c.1844G>C (p.Cys615Ser) rs730881793 0.00005
NM_000179.3(MSH6):c.3762A>T (p.Glu1254Asp) rs375459388 0.00005
NM_000249.4(MLH1):c.1153C>T (p.Arg385Cys) rs63750760 0.00005
NM_000249.4(MLH1):c.1154G>A (p.Arg385His) rs63750430 0.00005
NM_000249.4(MLH1):c.80G>A (p.Arg27Gln) rs138705565 0.00005
NM_000251.3(MSH2):c.1473G>T (p.Lys491Asn) rs1064795039 0.00005
NM_000251.3(MSH2):c.1774A>G (p.Met592Val) rs371614039 0.00005
NM_000251.3(MSH2):c.2267C>G (p.Thr756Ser) rs372383829 0.00005
NM_000251.3(MSH2):c.2694A>C (p.Glu898Asp) rs890670494 0.00005
NM_000251.3(MSH2):c.885C>G (p.Asp295Glu) rs201334592 0.00005
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys) rs730880555 0.00005
NM_000256.3(MYBPC3):c.3190+4C>T rs571457875 0.00005
NM_000256.3(MYBPC3):c.534G>T (p.Val178=) rs759249105 0.00005
NM_000368.5(TSC1):c.2696C>G (p.Thr899Ser) rs76801599 0.00005
NM_000455.5(STK11):c.1254C>G (p.Cys418Trp) rs587780715 0.00005
NM_000455.5(STK11):c.666C>T (p.Pro222=) rs542189325 0.00005
NM_000455.5(STK11):c.920+6C>T rs730881964 0.00005
NM_000465.4(BARD1):c.-4G>A rs761863671 0.00005
NM_000465.4(BARD1):c.1268A>G (p.Lys423Arg) rs749383704 0.00005
NM_000465.4(BARD1):c.1568T>C (p.Val523Ala) rs587780017 0.00005
NM_000465.4(BARD1):c.709C>G (p.Gln237Glu) rs587780035 0.00005
NM_000527.5(LDLR):c.2251C>T (p.Arg751Trp) rs756864388 0.00005
NM_000527.5(LDLR):c.2427A>G (p.Leu809=) rs147191787 0.00005
NM_000527.5(LDLR):c.2579C>T (p.Ala860Val) rs13306505 0.00005
NM_000527.5(LDLR):c.351C>T (p.His117=) rs200258458 0.00005
NM_000527.5(LDLR):c.660C>T (p.Pro220=) rs143002616 0.00005
NM_000527.5(LDLR):c.710G>A (p.Arg237His) rs148171426 0.00005
NM_000527.5(LDLR):c.861C>T (p.Gly287=) rs770191650 0.00005
NM_000535.7(PMS2):c.-4A>G rs544503598 0.00005
NM_000535.7(PMS2):c.682G>A (p.Gly228Ser) rs376258383 0.00005
NM_000540.3(RYR1):c.14283G>A (p.Pro4761=) rs201157293 0.00005
NM_000540.3(RYR1):c.2835G>A (p.Ala945=) rs576990255 0.00005
NM_001048174.2(MUTYH):c.229G>A (p.Asp77Asn) rs587780746 0.00005
NM_002474.3(MYH11):c.5869G>C (p.Glu1957Gln) rs768140376 0.00005
NM_003242.6(TGFBR2):c.95-7T>C rs764533083 0.00005
NM_004329.3(BMPR1A):c.83G>A (p.Ser28Asn) rs371904636 0.00005
NM_004360.5(CDH1):c.1019C>T (p.Thr340Met) rs61747631 0.00005
NM_004360.5(CDH1):c.1988A>G (p.Tyr663Cys) rs372182377 0.00005
NM_004415.4(DSP):c.5555G>A (p.Arg1852His) rs193922669 0.00005
NM_004415.4(DSP):c.7964C>G (p.Ala2655Gly) rs193922671 0.00005
NM_004656.4(BAP1):c.1031A>G (p.Asn344Ser) rs142887785 0.00005
NM_005359.6(SMAD4):c.947A>G (p.Asn316Ser) rs377119288 0.00005
NM_005902.4(SMAD3):c.401-7C>T rs774268232 0.00005
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr) rs80357102 0.00005
NM_007294.4(BRCA1):c.2387C>T (p.Thr796Ile) rs80357364 0.00005
NM_007294.4(BRCA1):c.4046C>T (p.Thr1349Met) rs80357345 0.00005
NM_007294.4(BRCA1):c.5117G>C (p.Gly1706Ala) rs80356860 0.00005
NM_007294.4(BRCA1):c.5176A>G (p.Arg1726Gly) rs80357501 0.00005
NM_007294.4(BRCA1):c.5333-483T>G rs967027857 0.00005
NM_024675.4(PALB2):c.1337A>T (p.Asp446Val) rs146434474 0.00005
NM_174936.4(PCSK9):c.1487G>A (p.Arg496Gln) rs139669564 0.00005
NM_000038.6(APC):c.1762G>A (p.Val588Ile) rs372416031 0.00004
NM_000038.6(APC):c.2534G>A (p.Arg845His) rs776878597 0.00004
NM_000038.6(APC):c.2627G>A (p.Arg876Gln) rs373428732 0.00004
NM_000038.6(APC):c.263G>A (p.Arg88Gln) rs587780592 0.00004
NM_000038.6(APC):c.2820G>A (p.Ser940=) rs780366551 0.00004
NM_000038.6(APC):c.317G>A (p.Arg106His) rs201764637 0.00004
NM_000038.6(APC):c.3245C>G (p.Thr1082Ser) rs730881244 0.00004
NM_000038.6(APC):c.3368A>C (p.Gln1123Pro) rs587779789 0.00004
NM_000038.6(APC):c.3383C>G (p.Ser1128Cys) rs755586334 0.00004
NM_000038.6(APC):c.3436C>T (p.Arg1146Cys) rs202168805 0.00004
NM_000038.6(APC):c.3628C>T (p.His1210Tyr) rs145181563 0.00004
NM_000038.6(APC):c.3935G>C (p.Gly1312Ala) rs587779791 0.00004
NM_000038.6(APC):c.4055T>C (p.Val1352Ala) rs528724202 0.00004
NM_000038.6(APC):c.4073C>T (p.Ala1358Val) rs730881249 0.00004
NM_000038.6(APC):c.4395T>A (p.Ser1465Arg) rs779898882 0.00004
NM_000038.6(APC):c.449A>G (p.Lys150Arg) rs371085910 0.00004
NM_000038.6(APC):c.4901C>T (p.Pro1634Leu) rs370433763 0.00004
NM_000038.6(APC):c.5083A>G (p.Arg1695Gly) rs555019540 0.00004
NM_000038.6(APC):c.5500G>A (p.Val1834Ile) rs555944438 0.00004
NM_000038.6(APC):c.5528C>T (p.Pro1843Leu) rs368080169 0.00004
NM_000038.6(APC):c.5839A>G (p.Thr1947Ala) rs746346292 0.00004
NM_000038.6(APC):c.5894A>C (p.His1965Pro) rs773776516 0.00004
NM_000038.6(APC):c.6019T>C (p.Tyr2007His) rs745811356 0.00004
NM_000038.6(APC):c.6117G>T (p.Leu2039Phe) rs372418435 0.00004
NM_000038.6(APC):c.6387G>A (p.Ser2129=) rs374310157 0.00004
NM_000038.6(APC):c.6639G>A (p.Met2213Ile) rs35540155 0.00004
NM_000038.6(APC):c.6682A>G (p.Arg2228Gly) rs199648202 0.00004
NM_000038.6(APC):c.6694C>G (p.His2232Asp) rs730881256 0.00004
NM_000038.6(APC):c.669A>C (p.Gln223His) rs769482880 0.00004
NM_000038.6(APC):c.7531C>T (p.Leu2511Phe) rs72541815 0.00004
NM_000038.6(APC):c.7570A>G (p.Lys2524Glu) rs143060722 0.00004
NM_000038.6(APC):c.7786T>G (p.Ser2596Ala) rs138137162 0.00004
NM_000038.6(APC):c.7832C>A (p.Thr2611Lys) rs587778037 0.00004
NM_000038.6(APC):c.8261G>A (p.Ser2754Asn) rs369721828 0.00004
NM_000038.6(APC):c.8402G>A (p.Arg2801Gln) rs754363694 0.00004
NM_000038.6(APC):c.883A>G (p.Ser295Gly) rs587780611 0.00004
NM_000038.6(APC):c.995G>A (p.Arg332Gln) rs377665107 0.00004
NM_000051.4(ATM):c.1351C>T (p.Arg451Cys) rs201719927 0.00004
NM_000051.4(ATM):c.1685A>G (p.Asn562Ser) rs368209025 0.00004
NM_000051.4(ATM):c.1888G>A (p.Val630Met) rs148191382 0.00004
NM_000051.4(ATM):c.202A>G (p.Ile68Val) rs35389822 0.00004
NM_000051.4(ATM):c.283C>A (p.Gln95Lys) rs587781545 0.00004
NM_000051.4(ATM):c.3154-5C>T rs55719759 0.00004
NM_000051.4(ATM):c.3378A>G (p.Lys1126=) rs149182949 0.00004
NM_000051.4(ATM):c.4606A>G (p.Lys1536Glu) rs587779841 0.00004
NM_000051.4(ATM):c.6101G>A (p.Arg2034Gln) rs3218670 0.00004
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_000051.4(ATM):c.8428A>C (p.Lys2810Gln) rs730881325 0.00004
NM_000053.4(ATP7B):c.1158G>T (p.Gly386=) rs778775834 0.00004
NM_000059.4(BRCA2):c.1070A>C (p.Glu357Ala) rs587781399 0.00004
NM_000059.4(BRCA2):c.136C>T (p.Pro46Ser) rs80358425 0.00004
NM_000059.4(BRCA2):c.280C>T (p.Pro94Ser) rs80358531 0.00004
NM_000059.4(BRCA2):c.2848G>A (p.Val950Ile) rs775903570 0.00004
NM_000059.4(BRCA2):c.3032C>G (p.Thr1011Arg) rs80358548 0.00004
NM_000059.4(BRCA2):c.352C>T (p.Arg118Cys) rs375125172 0.00004
NM_000059.4(BRCA2):c.3749A>G (p.Glu1250Gly) rs56400215 0.00004
NM_000059.4(BRCA2):c.4094G>A (p.Cys1365Tyr) rs80358657 0.00004
NM_000059.4(BRCA2):c.4570T>G (p.Phe1524Val) rs56386506 0.00004
NM_000059.4(BRCA2):c.4873G>A (p.Glu1625Lys) rs587782754 0.00004
NM_000059.4(BRCA2):c.4898T>C (p.Ile1633Thr) rs80358714 0.00004
NM_000059.4(BRCA2):c.5752C>T (p.His1918Tyr) rs80358803 0.00004
NM_000059.4(BRCA2):c.5927G>T (p.Gly1976Val) rs587782751 0.00004
NM_000059.4(BRCA2):c.6058G>A (p.Glu2020Lys) rs80358842 0.00004
NM_000059.4(BRCA2):c.6196G>A (p.Val2066Ile) rs397507365 0.00004
NM_000059.4(BRCA2):c.6295A>G (p.Arg2099Gly) rs398122551 0.00004
NM_000059.4(BRCA2):c.62A>G (p.Lys21Arg) rs397507367 0.00004
NM_000059.4(BRCA2):c.6739A>G (p.Ser2247Gly) rs80358896 0.00004
NM_000059.4(BRCA2):c.7102T>G (p.Leu2368Val) rs397507382 0.00004
NM_000059.4(BRCA2):c.7505G>A (p.Arg2502His) rs56070345 0.00004
NM_000059.4(BRCA2):c.7522G>A (p.Gly2508Ser) rs80358978 0.00004
NM_000059.4(BRCA2):c.8036A>G (p.Asp2679Gly) rs80359041 0.00004
NM_000059.4(BRCA2):c.8113A>G (p.Ser2705Gly) rs756105620 0.00004
NM_000059.4(BRCA2):c.8420C>T (p.Ser2807Leu) rs55763607 0.00004
NM_000059.4(BRCA2):c.8702G>A (p.Gly2901Asp) rs80359129 0.00004
NM_000059.4(BRCA2):c.8755-19A>G rs398122713 0.00004
NM_000059.4(BRCA2):c.9586A>G (p.Lys3196Glu) rs80359228 0.00004
NM_000059.4(BRCA2):c.9677A>G (p.Tyr3226Cys) rs80359237 0.00004
NM_000069.3(CACNA1S):c.2218G>A (p.Asp740Asn) rs752513328 0.00004
NM_000069.3(CACNA1S):c.490C>T (p.Leu164Phe) rs747238231 0.00004
NM_000077.5(CDKN2A):c.*13G>C rs374668781 0.00004
NM_000077.5(CDKN2A):c.197A>G (p.His66Arg) rs756750256 0.00004
NM_000090.4(COL3A1):c.2489C>T (p.Pro830Leu) rs886038849 0.00004
NM_000090.4(COL3A1):c.3245G>A (p.Arg1082Gln) rs367754862 0.00004