ClinVar Miner

Variants from Department of Pathology and Laboratory Medicine, Sinai Health System with conflicting interpretations

Location: Canada  Primary collection method: clinical testing
Minimum review status of the submission from Department of Pathology and Laboratory Medicine, Sinai Health System: Collection method of the submission from Department of Pathology and Laboratory Medicine, Sinai Health System:
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
5370 1218 37 582 965 43 197 1620

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
Department of Pathology and Laboratory Medicine, Sinai Health System pathogenic likely pathogenic uncertain significance likely benign benign affects association drug response established risk allele likely risk allele pathogenic, low penetrance protective risk factor other
pathogenic 0 62 15 0 6 0 0 2 0 0 2 0 8 4
likely pathogenic 45 0 13 1 0 0 0 0 0 0 0 0 1 1
uncertain significance 113 62 14 597 301 0 1 2 1 0 0 1 5 6
likely benign 5 3 162 1 297 2 3 0 0 0 0 0 5 2
benign 1 4 51 179 22 0 0 1 0 1 0 0 0 1
established risk allele 7 3 1 1 1 0 0 0 0 0 1 0 4 0

Submitter to submitter summary #

Total submitters: 163
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
GeneDx 0 859 0 187 355 2 93 636
Invitae 0 446 0 108 322 5 14 448
CeGaT Center for Human Genetics Tuebingen 0 333 0 91 167 1 25 284
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 303 0 78 142 0 4 224
Quest Diagnostics Nichols Institute San Juan Capistrano 0 303 0 73 84 0 47 204
Preventiongenetics, part of Exact Sciences 0 248 0 63 105 0 12 180
Eurofins Ntd Llc (ga) 0 273 0 42 89 11 18 158
Genetic Services Laboratory, University of Chicago 0 189 0 62 87 1 2 152
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 189 0 45 79 0 19 143
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 260 0 55 66 1 16 138
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 206 0 59 57 0 9 125
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 129 0 41 71 1 11 124
Mayo Clinic Laboratories, Mayo Clinic 0 193 0 29 45 0 34 108
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 126 0 51 37 0 6 94
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 125 0 15 70 1 2 88
Clinical Genetics, Academic Medical Center 0 58 0 25 61 0 1 87
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 74 0 23 50 1 6 80
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 104 0 40 31 0 5 76
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 64 0 13 50 1 11 75
Illumina Laboratory Services, Illumina 0 51 0 18 44 1 5 68
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 10 34 9 18 0 0 61
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 122 0 33 22 0 3 58
Ambry Genetics 0 42 0 1 43 0 2 46
Mendelics 0 44 0 14 23 3 3 43
Athena Diagnostics Inc 0 59 0 14 25 0 3 42
OMIM 0 21 0 0 5 26 10 41
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 45 0 18 22 0 1 41
Revvity Omics, Revvity Omics 0 149 0 9 9 0 13 31
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 73 0 9 18 0 4 31
Fulgent Genetics, Fulgent Genetics 0 80 0 15 9 0 6 30
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 39 0 12 10 0 8 30
Counsyl 0 58 0 12 9 0 1 22
Sharing Clinical Reports Project (SCRP) 0 46 0 9 10 0 0 19
Breast Cancer Information Core (BIC) (BRCA2) 0 32 0 0 16 0 1 17
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 64 0 13 4 0 0 17
Color Diagnostics, LLC DBA Color Health 0 3 0 1 16 0 0 17
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 27 0 0 5 0 9 14
Breast Cancer Information Core (BIC) (BRCA1) 0 23 0 0 9 0 2 11
Clinical Genetics and Genomics, Karolinska University Hospital 0 21 0 1 0 0 10 11
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 4 0 1 8 2 0 11
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto 0 26 0 7 2 0 2 11
Myriad Genetics, Inc. 0 20 0 9 2 0 0 11
Baylor Genetics 0 41 0 3 1 2 4 10
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 6 0 3 7 0 0 10
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 4 0 0 10 0 0 10
Natera, Inc. 0 14 0 0 8 0 0 8
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 0 30 1 6 0 0 1 8
GeneKor MSA 0 45 0 1 2 0 5 8
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 27 0 1 0 1 6 8
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 6 0 2 2 1 4 8
Constitutional Genetics Lab, Leon Berard Cancer Center 0 5 0 0 0 0 6 6
PharmGKB 0 0 0 0 0 5 0 5
Institute of Human Genetics, University of Leipzig Medical Center 0 10 0 0 3 2 0 5
University of Washington Department of Laboratory Medicine, University of Washington 0 5 0 0 2 0 3 5
Genome-Nilou Lab 0 10 0 0 5 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 15 0 0 1 2 2 5
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 12 0 4 1 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 9 0 2 1 0 1 4
Pathway Genomics 0 11 0 4 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 5 0 1 0 1 2 4
Department of Pathology and Molecular Medicine, Queen's University 0 12 0 4 0 0 0 4
Gharavi Laboratory, Columbia University 0 5 0 0 1 0 3 4
New York Genome Center 0 4 0 0 2 1 1 4
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 2 0 0 0 0 3 3
King Laboratory, University of Washington 0 0 0 1 1 0 1 3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 3 0 2 1 0 0 3
CSER _CC_NCGL, University of Washington 0 10 0 2 1 0 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 0 0 0 3 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 7 0 1 1 0 1 3
NIHR Bioresource Rare Diseases, University of Cambridge 0 4 0 2 0 0 1 3
Center of Medical Genetics and Primary Health Care 0 5 0 3 0 0 0 3
Leiden Open Variation Database 0 5 0 1 2 0 0 3
CFTR-France 0 1 0 1 0 0 2 3
AiLife Diagnostics, AiLife Diagnostics 0 15 0 1 0 1 1 3
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino 0 0 0 1 0 0 2 3
Department of Medical and Surgical Sciences, University of Bologna 0 1 0 1 2 0 0 3
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 0 0 0 0 0 2 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 0 1 0 0 1 2
Sema4, Sema4 0 0 0 0 0 0 2 2
Martin Pollak Laboratory, Beth Israel Deaconess Medical Center 0 0 2 0 0 0 0 2
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 2 2
Blueprint Genetics 0 6 0 1 1 0 0 2
Molecular Genetics and Enzymology, National Research Centre 0 0 0 0 1 0 1 2
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 0 0 0 2 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 3 0 0 0 2 0 2
Database of Curated Mutations (DoCM) 0 0 0 0 0 0 2 2
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 49 0 2 0 0 0 2
Undiagnosed Diseases Network, NIH 0 0 0 0 0 1 1 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 5 0 1 1 0 1 2
Genetics and Molecular Pathology, SA Pathology 0 7 0 1 1 0 0 2
Yale Center for Mendelian Genomics, Yale University 0 1 0 1 0 0 1 2
3DMed Clinical Laboratory Inc 0 3 0 0 2 0 0 2
Broad Institute Rare Disease Group, Broad Institute 0 2 0 1 0 0 1 2
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 9 0 1 1 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 4 0 0 2 0 0 2
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas 0 0 0 0 0 1 1 2
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 2 0 0 0 1 1 2
DASA 0 4 0 0 0 0 2 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 2 0 0 0 0 2 2
BRCAlab, Lund University 0 25 0 2 0 0 0 2
European Reference Network on Genetic Tumour Risk Syndromes (ERN-GENTURIS), i3s - Instituto de Investigação e Inovação em Saúde, University of Porto 0 6 0 1 1 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 7 0 0 0 1 0 1
Elsea Laboratory, Baylor College of Medicine 0 0 0 0 0 0 1 1
FirmaLab, FirmaLab 0 0 0 0 0 0 1 1
Centogene AG - the Rare Disease Company 0 0 0 1 0 0 0 1
Michigan Medical Genetics Laboratories, University of Michigan 0 8 0 1 0 0 0 1
GeneReviews 0 9 0 0 0 0 1 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 9 0 0 0 1 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 1 0 0 0 0 1 1
Northcott Neuroscience Laboratory, ANZAC Research Institute 0 0 0 0 0 0 1 1
UCLA Clinical Genomics Center, UCLA 0 0 0 0 0 1 0 1
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics 0 0 0 0 0 1 0 1
Department of Genetics, Reproduction and Fetal Medicine., Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville. 0 0 0 0 1 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 2 0 0 1 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 1 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 0 0 0 1 0 1
Genome Sciences Centre, British Columbia Cancer Agency 0 0 0 0 0 0 1 1
Clinical Genetics, Erasmus University Medical Center 0 0 0 0 0 0 1 1
Pediatric Highly Intensive Care Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 0 0 0 0 0 0 1 1
Daryl Scott Lab, Baylor College of Medicine 0 0 0 0 0 0 1 1
Neurogenetics Laboratory - MEYER, AOU Meyer 0 0 0 0 0 0 1 1
Neurogenetics Research Program, University of Adelaide 0 0 0 0 1 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 8205 2 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 0 0 1 0 1 1
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 0 0 0 1 0 0 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 0 0 0 0 1 0 1 1
Institute of Cellular and Molecular Medicine, Copenhagen University 0 0 0 0 0 0 1 1
Flegel Lab, National Institutes of Health 0 0 0 0 0 0 1 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 0 1 0 0 0 1
Institute for Genomic Medicine, Nationwide Children's Hospital 0 0 0 0 0 0 1 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 1 0 0 0 0 1 1
Variantyx, Inc. 0 1 0 0 0 1 0 1
Medical Genetics Lab, Policlinico S. Orsola.Malpighi 0 0 0 0 0 0 1 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 0 0 0 0 1 1
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano 0 0 0 0 1 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 0 0 0 0 1 0 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 10 0 0 0 0 1 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 1 0 1
Clinical Cancer Genetics and Family Consultants, Athens Medical Center 0 0 0 0 0 0 1 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 1 0 1 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 0 0 0 0 0 1 1
Molecular Pathology Diagnostics Labratory, University of Iowa Hospitals & Clinics 0 0 0 0 0 0 1 1
Biochemistry Laboratory of CDMU, Chengde Medical University 0 0 0 0 0 0 1 1
Reproductive Health Research and Development, BGI Genomics 0 1 0 0 0 1 0 1
CZECANCA consortium 0 13 0 0 0 0 1 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 3 0 0 0 1 0 1
Clinical Genomics Program, Stanford Medicine 0 0 0 0 0 1 0 1
Rare Disease Group, University of Exeter 0 0 0 0 0 0 1 1
Central Laboratory, The First Hospital of Lanzhou University 0 0 0 0 0 0 1 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 0 0 0 0 0 1 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 0 0 0 0 0 1 1
Faculty of Health Sciences, Beirut Arab University 0 0 0 1 0 0 0 1
Genomic Medicine, Universita Cattolica del Sacro Cuore 0 0 0 0 0 0 1 1
3billion 0 1 0 0 0 1 0 1
Suma Genomics 0 0 0 0 0 1 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 0 0 0 1 0 1
Genomics England Pilot Project, Genomics England 0 1 0 1 0 0 0 1
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 0 0 1 0 0 1
Sylvester Comprehensive Cancer Center, University of Miami 0 0 0 0 0 0 1 1
IU Genetic Testing Laboratories, Indiana University School of Medicine 0 0 0 0 0 0 1 1
Henan Key Laboratory of Chronic Disease Management, Central China Fuwai Hospital of Zhengzhou University, Fuwai Central China Cardiovascular Hospital & Central China Branch of National Center for Cardiovascular Diseases 0 0 0 0 0 0 1 1
Cytogenetics, Genetics Associates, Inc. 0 0 0 0 0 0 1 1
ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel 0 1 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 1620
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000130.5(F5):c.1601= (p.Arg534=) rs6025 0.98238
NM_004360.5(CDH1):c.48+6C>T rs3743674 0.80384
NM_004415.4(DSP):c.2091A>G (p.Gly697=) rs2076304 0.76849
NM_000179.3(MSH6):c.3802-40C>G rs3136367 0.73398
NM_000152.5(GAA):c.324T>C (p.Cys108=) rs1800300 0.71989
NM_000152.5(GAA):c.2338G>A (p.Val780Ile) rs1126690 0.71839
NM_000552.5(VWF):c.4641T>C (p.Thr1547=) rs216310 0.71518
NM_000552.5(VWF):c.4141A>G (p.Thr1381Ala) rs216311 0.71493
NM_014251.3(SLC25A13):c.328+6A>G rs6957975 0.67687
NM_000152.5(GAA):c.596A>G (p.His199Arg) rs1042393 0.65667
NM_000152.5(GAA):c.547-4C>G rs3816256 0.65665
NM_000152.5(GAA):c.668G>A (p.Arg223His) rs1042395 0.65662
NM_000152.5(GAA):c.955+12G>A rs2252455 0.65487
NM_000152.5(GAA):c.1203G>A (p.Gln401=) rs1800304 0.65453
NM_000243.3(MEFV):c.942C>T (p.Arg314=) rs224213 0.61317
NM_001308093.3(GATA4):c.1000+56C>A rs804280 0.61291
NM_000152.5(GAA):c.2553G>A (p.Gly851=) rs1042397 0.57872
NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala) rs1801249 0.57256
NM_000053.4(ATP7B):c.2855G>A (p.Arg952Lys) rs732774 0.56484
NM_000053.4(ATP7B):c.2495A>G (p.Lys832Arg) rs1061472 0.54674
NM_000179.3(MSH6):c.3556+146G>A rs7562048 0.54192
NM_000053.4(ATP7B):c.3903+6C>T rs2282057 0.53754
NM_000257.4(MYH7):c.189C>T (p.Thr63=) rs2069540 0.51584
NM_000552.5(VWF):c.1451A>G (p.His484Arg) rs1800378 0.51348
NM_000243.3(MEFV):c.306T>C (p.Asp102=) rs224225 0.48544
NM_000243.3(MEFV):c.495C>A (p.Ala165=) rs224223 0.48450
NM_000312.4(PROC):c.-50A>T rs1799810 0.44475
NM_000257.4(MYH7):c.2967T>C (p.Ile989=) rs7157716 0.43030
NM_000552.5(VWF):c.1548T>C (p.Tyr516=) rs1800379 0.41956
NM_000053.4(ATP7B):c.1366G>C (p.Val456Leu) rs1801244 0.41941
NM_000249.4(MLH1):c.1668-19A>G rs9876116 0.41821
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala) rs1801243 0.41549
NM_000552.5(VWF):c.2365A>G (p.Thr789Ala) rs1063856 0.40814
NM_000552.5(VWF):c.2385T>C (p.Tyr795=) rs1063857 0.40791
NM_004329.3(BMPR1A):c.4C>A (p.Pro2Thr) rs11528010 0.40719
NM_000243.3(MEFV):c.1760-30T>A rs1231123 0.39404
NM_000540.3(RYR1):c.7835+5A>G rs1469695 0.38217
NM_014251.3(SLC25A13):c.1194A>G (p.Leu398=) rs2301629 0.34968
NM_000540.3(RYR1):c.8190T>C (p.Asp2730=) rs2915951 0.33482
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_000071.3(CBS):c.1080C>T (p.Ala360=) rs1801181 0.30942
NM_007294.4(BRCA1):c.4485-63C>G rs273900734 0.30900
NM_007294.4(BRCA1):c.3548A>G (p.Lys1183Arg) rs16942 0.30784
NM_000130.5(F5):c.4095C>T (p.Thr1365=) rs9332607 0.29522
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941 0.29115
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133 0.27446
NM_000257.4(MYH7):c.732C>T (p.Phe244=) rs2069542 0.27385
NM_000312.4(PROC):c.768T>C (p.Asp256=) rs5937 0.27234
NM_000552.5(VWF):c.2880G>A (p.Arg960=) rs1800380 0.25897
NM_000540.3(RYR1):c.7614+10C>G rs2960323 0.23284
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) rs144848 0.23116
NM_000249.4(MLH1):c.655A>G (p.Ile219Val) rs1799977 0.23048
NM_001099667.3(ARMS2):c.205G>T (p.Ala69Ser) rs10490924 0.22973
NM_000243.3(MEFV):c.605G>A (p.Arg202Gln) rs224222 0.20976
NM_025000.4(DCAF17):c.322-14C>T rs192861143 0.20151
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421 0.19530
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.18094
NM_000540.3(RYR1):c.7863C>T (p.His2621=) rs2229142 0.16420
NM_000455.5(STK11):c.920+7G>C rs2075607 0.16357
NM_000130.5(F5):c.3853C>A (p.Leu1285Ile) rs1046712 0.16155
NM_000041.4(APOE):c.388T>C (p.Cys130Arg) rs429358 0.16059
NM_000552.5(VWF):c.6846A>G (p.Thr2282=) rs1053523 0.15412
NM_004415.4(DSP):c.4535A>G (p.Tyr1512Cys) rs2076299 0.13777
NM_000535.7(PMS2):c.1621= (p.Lys541=) rs2228006 0.13518
NM_000179.3(MSH6):c.260+22C>G rs55927047 0.13136
NM_000540.3(RYR1):c.10687-7C>T rs2960354 0.12378
NM_000540.3(RYR1):c.7098C>T (p.Pro2366=) rs2229147 0.10248
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_004360.5(CDH1):c.1937-13T>C rs2276330 0.09635
NM_000033.4(ABCD1):c.-59C>T rs4148030 0.09150
NM_001308093.3(GATA4):c.1132A>G (p.Ser378Gly) rs3729856 0.09064
NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter) rs17602729 0.08701
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000041.2(APOE):c.526C>T (p.Arg176Cys) rs7412 0.07986
NM_000218.3(KCNQ1):c.1590+14T>C rs11024034 0.07860
NM_003476.5(CSRP3):c.336G>A (p.Ala112=) rs13451 0.07238
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
NM_000540.3(RYR1):c.7089C>T (p.Cys2363=) rs2228071 0.06536
NM_000257.4(MYH7):c.1062C>T (p.Gly354=) rs735712 0.06133
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn) rs4986850 0.05782
NM_000130.5(F5):c.730+7C>T rs6023 0.05754
NM_002386.4(MC1R):c.478C>T (p.Arg160Trp) rs1805008 0.04851
NM_002386.4(MC1R):c.451C>T (p.Arg151Cys) rs1805007 0.04832
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950 0.04695
NM_000540.3(RYR1):c.13317C>T (p.Ala4439=) rs113579185 0.04642
NM_000123.4(ERCC5):c.1586G>C (p.Cys529Ser) rs2227869 0.04366
NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944 0.04357
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03880
NM_001009944.3(PKD1):c.3111A>G (p.Leu1037=) rs2099534 0.03878
NM_000059.4(BRCA2):c.865A>C (p.Asn289His) rs766173 0.03693
NM_000155.4(GALT):c.945T>C (p.His315=) rs61735982 0.03311
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580 0.02950
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg) rs61750126 0.02895
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln) rs61747728 0.02796
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val) rs35947132 0.02791
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile) rs34526199 0.02732
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser) rs17217772 0.02317
NM_000051.4(ATM):c.4138C>T (p.His1380Tyr) rs3092856 0.02156
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_002485.5(NBN):c.2082T>G (p.Pro694=) rs7823648 0.02020
NM_001365951.3(KIF1B):c.608+8dup rs139613776 0.01962
NM_001365951.3(KIF1B):c.2115+6360G>T rs41274458 0.01961
NM_001365951.3(KIF1B):c.2115+6753A>G rs41274462 0.01960
NM_001040108.2(MLH3):c.4242+13C>G rs77157930 0.01890
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117 0.01834
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025 0.01762
NM_020937.4(FANCM):c.4799C>T (p.Thr1600Ile) rs61746943 0.01614
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser) rs11466023 0.01590
NM_002907.4(RECQL):c.1460A>C (p.Lys487Thr) rs6501 0.01583
NM_000520.6(HEXA):c.672+30T>G rs117160567 0.01494
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln) rs11466024 0.01456
NM_014915.3(ANKRD26):c.3384G>A (p.Lys1128=) rs41299210 0.01449
NM_000251.3(MSH2):c.1077-10T>C rs17224360 0.01428
NM_006231.4(POLE):c.6418G>A (p.Glu2140Lys) rs5745066 0.01416
NM_005612.5(REST):c.2443C>T (p.Pro815Ser) rs114282228 0.01389
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967 0.01348
NM_000237.3(LPL):c.953A>G (p.Asn318Ser) rs268 0.01327
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474 0.01282
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047 0.01281
NM_005228.5(EGFR):c.1881-721G>A rs17336988 0.01263
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly) rs1799807 0.01259
NM_000051.4(ATM):c.3118A>G (p.Met1040Val) rs3092857 0.01233
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584 0.01206
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031 0.01150
NM_001040108.2(MLH3):c.1258G>A (p.Val420Ile) rs28756982 0.01142
NM_005245.4(FAT1):c.10487T>C (p.Val3496Ala) rs35216841 0.01126
NM_002386.4(MC1R):c.880G>C (p.Asp294His) rs1805009 0.01121
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852 0.01109
NM_020937.4(FANCM):c.624A>G (p.Ile208Met) rs45547534 0.01077
NM_005245.4(FAT1):c.13727C>T (p.Thr4576Met) rs142057401 0.01074
NM_000380.4(XPA):c.754C>G (p.Leu252Val) rs3176750 0.01065
NM_000059.4(BRCA2):c.8487+19A>G rs11571743 0.01055
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945 0.01054
NM_001040108.2(MLH3):c.2896T>C (p.Ser966Pro) rs17782839 0.01052
NM_000410.4(HFE):c.193A>T (p.Ser65Cys) rs1800730 0.01042
NM_005245.4(FAT1):c.11155G>A (p.Val3719Met) rs35670235 0.01013
NM_000506.5(F2):c.*97G>A rs1799963 0.00979
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113 0.00964
NM_005245.4(FAT1):c.12653A>G (p.Asp4218Gly) rs72716244 0.00950
NM_000791.4(DHFR):c.-416C>G rs2001675 0.00949
NM_000123.4(ERCC5):c.2636A>G (p.Asn879Ser) rs4150342 0.00934
NM_004360.5(CDH1):c.-71C>G rs34033771 0.00927
NM_015559.3(SETBP1):c.4129G>C (p.Val1377Leu) rs77518617 0.00922
NM_005245.4(FAT1):c.10757T>C (p.Met3586Thr) rs115705222 0.00904
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707 0.00868
NM_005228.5(EGFR):c.1509C>T (p.Gly503=) rs17336800 0.00859
NM_000059.4(BRCA2):c.7806-40A>G rs9590939 0.00858
NM_001510.4(GRID2):c.1203T>C (p.Leu401=) rs80091080 0.00850
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128 0.00841
NM_005245.4(FAT1):c.7700G>A (p.Arg2567His) rs116784674 0.00826
NM_002439.5(MSH3):c.1567G>A (p.Glu523Lys) rs34058399 0.00789
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro) rs4986761 0.00782
NM_014915.3(ANKRD26):c.3655G>A (p.Val1219Ile) rs146819984 0.00781
NM_001040108.2(MLH3):c.1870G>C (p.Glu624Gln) rs28756986 0.00772
NM_000059.4(BRCA2):c.316+108A>G rs115376548 0.00769
NM_000215.4(JAK3):c.2164G>A (p.Val722Ile) rs3213409 0.00743
NM_000059.4(BRCA2):c.8632+132dup rs201392123 0.00742
NM_001083603.1(PTCH1):c.131A>G (p.Glu44Gly) rs202111971 0.00732
NM_022168.4(IFIH1):c.1641+1G>C rs35337543 0.00728
NM_002691.4(POLD1):c.88C>T (p.Arg30Trp) rs3218772 0.00706
NM_003738.5(PTCH2):c.1073G>A (p.Arg358His) rs139624405 0.00701
NM_000059.4(BRCA2):c.517-19C>T rs11571623 0.00693
NM_000038.6(APC):c.5265G>A (p.Ala1755=) rs34506289 0.00675
NM_002386.4(MC1R):c.464T>C (p.Ile155Thr) rs1110400 0.00675
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799 0.00663
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048 0.00655
NM_000455.5(STK11):c.369G>A (p.Gln123=) rs140112347 0.00636
NM_001130009.3(GEN1):c.2652A>C (p.Glu884Asp) rs141534568 0.00629
NM_005245.4(FAT1):c.5384G>A (p.Arg1795Gln) rs56790426 0.00622
NM_014679.5(CEP57):c.333G>C (p.Gln111His) rs117321017 0.00613
NM_001372073.1(PDGFRL):c.408A>G (p.Ala136=) rs34445293 0.00606
NM_000051.4(ATM):c.4042T>C (p.Leu1348=) rs56355831 0.00599
NM_000059.4(BRCA2):c.9257-16T>C rs11571818 0.00597
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833 0.00597
NM_001142800.2(EYS):c.7796A>G (p.His2599Arg) rs74636274 0.00587
NM_000249.4(MLH1):c.589-15C>T rs55658850 0.00582
NM_004544.4(NDUFA10):c.712G>A (p.Glu238Lys) rs35462421 0.00570
NM_199420.4(POLQ):c.4262_4268del (p.Ile1421fs) rs546221341 0.00558
NM_002386.4(MC1R):c.252C>A (p.Asp84Glu) rs1805006 0.00553
NM_001040108.2(MLH3):c.3217G>A (p.Asp1073Asn) rs28756993 0.00551
NM_006231.4(POLE):c.6494G>A (p.Arg2165His) rs5745068 0.00550
NM_002273.4(KRT8):c.184G>T (p.Gly62Cys) rs11554495 0.00545
NM_212482.4(FN1):c.4486C>T (p.Arg1496Trp) rs139078629 0.00542
NM_001048174.2(MUTYH):c.421-4A>G rs201678305 0.00541
NM_021930.6(RINT1):c.2276C>T (p.Pro759Leu) rs34310648 0.00537
NM_000275.3(OCA2):c.79G>A (p.Gly27Arg) rs61738394 0.00532
NM_024675.4(PALB2):c.53A>G (p.Lys18Arg) rs138789658 0.00530
NM_198578.4(LRRK2):c.4541G>A (p.Arg1514Gln) rs35507033 0.00526
NM_001365951.3(KIF1B):c.2115+6956A>G rs148481786 0.00525
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630 0.00521
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_006231.4(POLE):c.6763A>T (p.Ile2255Phe) rs73155056 0.00513
NM_007294.4(BRCA1):c.-192T>C rs113323025 0.00510
NM_001009944.3(PKD1):c.4546G>A (p.Ala1516Thr) rs148164067 0.00508
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile) rs146722795 0.00506
NM_001987.5(ETV6):c.602T>C (p.Leu201Pro) rs145477191 0.00501
NM_004423.4(DVL3):c.291G>A (p.Ser97=) rs150288196 0.00499
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_001312909.2(FAM111A):c.782_791dup (p.Phe264fs) rs533676902 0.00478
NM_001171.6(ABCC6):c.3883-24G>A rs59513011 0.00475
NM_005245.4(FAT1):c.13042C>A (p.Leu4348Ile) rs80120846 0.00467
NM_004462.5(FDFT1):c.100-232G>C rs181750463 0.00465
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly) rs72653762 0.00459
NM_000465.4(BARD1):c.1738G>A (p.Glu580Lys) rs35306212 0.00455
NM_005612.5(REST):c.2206C>T (p.Pro736Ser) rs61754065 0.00455
NM_001298.3(CNGA3):c.143C>T (p.Pro48Leu) rs62156348 0.00451
NM_153717.3(EVC):c.469C>G (p.Pro157Ala) rs146729456 0.00451
NM_031372.4(HNRNPDL):c.125T>C (p.Leu42Pro) rs61729823 0.00443
NM_000059.4(BRCA2):c.7008-62A>G rs76584943 0.00439
NM_006000.3(TUBA4A):c.909A>G (p.Val303=) rs141922502 0.00438
NM_014915.3(ANKRD26):c.4445T>C (p.Ile1482Thr) rs80097260 0.00437
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_004168.4(SDHA):c.969C>T (p.Gly323=) rs142849100 0.00430
NM_000051.4(ATM):c.6437G>C (p.Ser2146Thr) rs56815840 0.00424
NM_145309.6(LRRC51):c.*1201A>C rs188080974 0.00424
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689 0.00419
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile) rs8177988 0.00414
NM_001903.5(CTNNA1):c.618G>C (p.Gln206His) rs150893072 0.00414
NM_000224.3(KRT18):c.689G>C (p.Ser230Thr) rs58472472 0.00405
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu) rs35001569 0.00399
NM_000249.4(MLH1):c.307-29C>A rs139620056 0.00398
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg) rs55953736 0.00396
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys) rs16024 0.00390
NM_003227.4(TFR2):c.1127C>A (p.Ala376Asp) rs41303495 0.00384
NM_001098.3(ACO2):c.220C>G (p.Leu74Val) rs141772938 0.00383
NM_207361.6(FREM2):c.8902G>A (p.Val2968Ile) rs116099212 0.00379
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_005245.4(FAT1):c.3503C>T (p.Ser1168Leu) rs200633985 0.00375
NM_000123.4(ERCC5):c.2877A>C (p.Arg959Ser) rs41281674 0.00373
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_002907.4(RECQL):c.1483G>C (p.Asp495His) rs6499 0.00353
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_000059.4(BRCA2):c.6412G>T (p.Val2138Phe) rs11571659 0.00346
NM_001184.4(ATR):c.2290A>G (p.Lys764Glu) rs77208665 0.00340
NM_021870.3(FGG):c.571G>A (p.Gly191Arg) rs6063 0.00339
NM_000338.3(SLC12A1):c.347G>A (p.Arg116His) rs34819316 0.00334
NM_198407.2(GHSR):c.531C>A (p.Pro177=) rs4988509 0.00334
NM_004977.3(KCNC3):c.1771A>G (p.Ser591Gly) rs549394447 0.00331
NM_000243.3(MEFV):c.910G>A (p.Gly304Arg) rs75977701 0.00316
NM_000251.3(MSH2):c.339G>A (p.Lys113=) rs35898375 0.00313
NM_006231.4(POLE):c.779G>A (p.Arg260Gln) rs5744752 0.00312
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr) rs35187787 0.00311
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu) rs114973968 0.00309
NM_001201543.2(FAM161A):c.1153C>G (p.Gln385Glu) rs139266382 0.00309
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677 0.00308
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485 0.00307
NM_002253.4(KDR):c.2066C>T (p.Thr689Met) rs34038364 0.00307
NM_006416.5(SLC35A1):c.133A>G (p.Thr45Ala) rs145006535 0.00306
NM_001166108.2(PALLD):c.1273A>T (p.Thr425Ser) rs140454899 0.00299
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val) rs55907433 0.00297
NM_198578.4(LRRK2):c.5163A>G (p.Ser1721=) rs79909111 0.00293
NM_000059.4(BRCA2):c.4681C>A (p.His1561Asn) rs2219594 0.00292
NM_014252.4(SLC25A15):c.182G>A (p.Arg61His) rs34615430 0.00292
NM_016953.4(PDE11A):c.919C>T (p.Arg307Ter) rs76308115 0.00292
NM_001982.4(ERBB3):c.3529C>A (p.Leu1177Ile) rs55699040 0.00291
NM_000059.4(BRCA2):c.7805+6C>G rs81002819 0.00290
NM_001136193.2(FASTKD2):c.149A>G (p.Lys50Arg) rs141447598 0.00289
NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys) rs11571657 0.00288
NM_000341.4(SLC3A1):c.566C>T (p.Thr189Met) rs140317484 0.00287
NM_001166108.2(PALLD):c.764G>A (p.Arg255His) rs146018183 0.00287
NM_000301.5(PLG):c.112A>G (p.Lys38Glu) rs73015965 0.00282
NM_016335.6(PRODH):c.1322T>C (p.Leu441Pro) rs2904551 0.00282
NM_080916.3(DGUOK):c.4G>T (p.Ala2Ser) rs147551003 0.00280
NM_002711.4(PPP1R3A):c.1985_1986del (p.Gln662fs) rs527638422 0.00279
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln) rs62646862 0.00276
NM_006019.4(TCIRG1):c.1249G>A (p.Ala417Thr) rs140963213 0.00275
NM_000059.4(BRCA2):c.67+62T>G rs11571574 0.00274
NM_000203.5(IDUA):c.246C>G (p.His82Gln) rs148775298 0.00274
NM_005199.5(CHRNG):c.714G>T (p.Gln238His) rs17838626 0.00274
NM_207361.6(FREM2):c.2128C>T (p.Arg710Cys) rs41292753 0.00274
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys) rs58241708 0.00272
NM_000107.3(DDB2):c.1228G>A (p.Ala410Thr) rs143049891 0.00270
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695 0.00270
NM_000298.6(PKLR):c.829G>A (p.Glu277Lys) rs147689373 0.00269
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_005359.6(SMAD4):c.455-6A>G rs181178864 0.00269
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954 0.00268
NM_002485.5(NBN):c.381T>C (p.Ala127=) rs61754795 0.00266
NM_020361.5(CPA6):c.1237C>T (p.Leu413Phe) rs142597675 0.00266
NM_001384910.1(GUCA1A):c.205G>T (p.Gly69Cys) rs146354667 0.00263
NM_003105.6(SORL1):c.5448T>C (p.Tyr1816=) rs150315143 0.00262
NM_005199.5(CHRNG):c.125G>A (p.Arg42Gln) rs148468628 0.00262
NM_004360.5(CDH1):c.1680G>C (p.Thr560=) rs35741240 0.00261
NM_005245.4(FAT1):c.8535G>A (p.Met2845Ile) rs138948513 0.00261
NM_005562.3(LAMC2):c.493C>T (p.Arg165Cys) rs142335339 0.00261
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His) rs35029074 0.00260
NM_182914.3(SYNE2):c.20410G>A (p.Asp6804Asn) rs150644129 0.00259
NM_004329.3(BMPR1A):c.618A>G (p.Leu206=) rs55992440 0.00257
NM_000542.5(SFTPB):c.403G>A (p.Gly135Ser) rs35373464 0.00256
NM_033305.3(VPS13A):c.775A>G (p.Asn259Asp) rs41307461 0.00255
NM_005529.7(HSPG2):c.12982G>A (p.Ala4328Thr) rs114015043 0.00254
NM_000179.3(MSH6):c.3911G>A (p.Arg1304Lys) rs34625968 0.00253
NM_005245.4(FAT1):c.4841C>T (p.Pro1614Leu) rs183343406 0.00253
NM_007294.4(BRCA1):c.4987-20A>G rs80358035 0.00252
NM_022370.4(ROBO3):c.1838C>T (p.Thr613Ile) rs200202857 0.00252
NM_000384.3(APOB):c.13369G>A (p.Asp4457Asn) rs183812948 0.00250
NM_001256071.3(RNF213):c.13604T>C (p.Ile4535Thr) rs75161557 0.00249
NM_001349253.2(SCN11A):c.601A>T (p.Ile201Phe) rs139915721 0.00249
NM_003126.4(SPTA1):c.3230G>A (p.Arg1077His) rs199612744 0.00249
NM_032273.4(TMEM126A):c.314G>A (p.Arg105Gln) rs146573578 0.00247
NM_001374385.1(ATP8B1):c.208G>A (p.Asp70Asn) rs34719006 0.00245
NM_000255.4(MMUT):c.205A>G (p.Ile69Val) rs115923556 0.00243
NM_000065.5(C6):c.2381+2T>C rs76202909 0.00242
NM_000096.4(CP):c.1430C>T (p.Pro477Leu) rs35331711 0.00242
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744 0.00240
NM_000179.3(MSH6):c.3439-16C>T rs192614006 0.00237
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_000059.4(BRCA2):c.8953+98T>C rs81002901 0.00236
NM_001377265.1(MAPT):c.896T>G (p.Val299Gly) rs141120474 0.00235
NM_002439.5(MSH3):c.2732T>G (p.Leu911Trp) rs41545019 0.00233
NM_007294.4(BRCA1):c.114G>A (p.Lys38=) rs1800062 0.00233
NM_020921.4(NIN):c.2665G>C (p.Val889Leu) rs78251482 0.00231
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927 0.00229
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=) rs1799952 0.00228
NM_000059.4(BRCA2):c.7626G>A (p.Thr2542=) rs61754138 0.00228
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=) rs1801250 0.00228
NM_000122.2(ERCC3):c.2111C>T (p.Ser704Leu) rs4150521 0.00227
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) rs61729954 0.00227
NM_198129.4(LAMA3):c.4060G>A (p.Glu1354Lys) rs34799994 0.00224
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255 0.00223
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val) rs62646863 0.00222
NM_144773.4(PROKR2):c.518T>G (p.Leu173Arg) rs74315416 0.00220
NM_000316.3(PTH1R):c.299G>A (p.Gly100Asp) rs41290646 0.00218
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala) rs144942544 0.00217
NM_001001557.4(GDF6):c.112G>C (p.Gly38Arg) rs139075817 0.00217
NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala) rs144787939 0.00217
NM_000384.3(APOB):c.11257T>C (p.Phe3753Leu) rs61741974 0.00213
NM_001142800.2(EYS):c.788A>G (p.His263Arg) rs139517572 0.00213
NM_000441.1(SLC26A4):c.-103T>C rs60284988 0.00209
NM_000036.3(AMPD1):c.1162C>T (p.Arg388Trp) rs35859650 0.00208
NM_005245.4(FAT1):c.9440T>G (p.Val3147Gly) rs188733415 0.00208
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) rs34767364 0.00206
NM_002496.4(NDUFS8):c.4C>T (p.Arg2Cys) rs150278938 0.00205
NM_006269.2(RP1):c.4250T>C (p.Leu1417Pro) rs139294220 0.00204
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746 0.00202
NM_004407.4(DMP1):c.815G>A (p.Arg272His) rs145237146 0.00202
NM_014915.3(ANKRD26):c.92G>C (p.Gly31Ala) rs199849785 0.00202
NM_017775.4(TTC19):c.820A>G (p.Arg274Gly) rs147111211 0.00202
NM_000051.4(ATM):c.162T>C (p.Tyr54=) rs3218690 0.00200
NM_014336.5(AIPL1):c.1006G>A (p.Ala336Thr) rs143092701 0.00200
NM_000228.3(LAMB3):c.332A>G (p.Asp111Gly) rs55824996 0.00198
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro) rs4988347 0.00197
NM_000123.4(ERCC5):c.3177C>T (p.Gly1059=) rs148856875 0.00196
NM_005373.3(MPL):c.1654-10T>A rs200460456 0.00196
NM_025074.7(FRAS1):c.5374G>A (p.Ala1792Thr) rs150916370 0.00193
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_001142800.2(EYS):c.4985A>T (p.Asp1662Val) rs147641443 0.00192
NM_005245.4(FAT1):c.3749A>G (p.Tyr1250Cys) rs142805532 0.00191
NM_001080472.4(FITM2):c.773A>G (p.Asp258Gly) rs142318812 0.00190
NM_005236.3(ERCC4):c.2117T>C (p.Ile706Thr) rs1800069 0.00190
NM_007194.4(CHEK2):c.1407G>A (p.Val469=) rs17881378 0.00190
NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile) rs56357060 0.00189
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile) rs189806840 0.00189
NM_000249.4(MLH1):c.790+10A>G rs182733777 0.00188
NM_002485.5(NBN):c.283G>A (p.Asp95Asn) rs61753720 0.00188
NM_005529.7(HSPG2):c.1238G>A (p.Arg413Gln) rs140621959 0.00188
NM_016341.4(PLCE1):c.1567A>G (p.Ile523Val) rs61751494 0.00188
NM_153704.6(TMEM67):c.1078A>G (p.Thr360Ala) rs140191346 0.00188
NM_001171.6(ABCC6):c.3064C>G (p.Gln1022Glu) rs57179857 0.00186
NM_000466.3(PEX1):c.637C>T (p.Leu213Phe) rs141798874 0.00185
NM_020745.4(AARS2):c.1084A>T (p.Met362Leu) rs147091256 0.00185
NM_022081.6(HPS4):c.1396C>T (p.Arg466Cys) rs147435410 0.00184
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710 0.00182
NM_000535.7(PMS2):c.23+10G>C rs192027828 0.00182
NM_001145252.3(CFP):c.895G>A (p.Asp299Asn) rs61737993 0.00182
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00181
NM_001164508.2(NEB):c.18579+6T>C rs116189169 0.00180
NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys) rs61760163 0.00179
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro) rs139007661 0.00179
NM_003000.3(SDHB):c.423+20T>A rs190139590 0.00179
NM_021076.4(NEFH):c.2601G>T (p.Lys867Asn) rs138156220 0.00178
NM_000465.4(BARD1):c.33G>T (p.Gln11His) rs143914387 0.00176
NM_000233.4(LHCGR):c.568C>A (p.Gln190Lys) rs61996318 0.00175
NM_000426.4(LAMA2):c.1621A>G (p.Ser541Gly) rs141363186 0.00175
NM_002253.4(KDR):c.1384T>G (p.Leu462Val) rs56286620 0.00175
NM_006734.4(HIVEP2):c.4654C>T (p.Pro1552Ser) rs181273304 0.00175
NM_000250.2(MPO):c.1705C>T (p.Arg569Trp) rs119468010 0.00173
NM_001128164.2(ATXN1):c.95C>G (p.Thr32Ser) rs150375774 0.00173
NM_001151.4(SLC25A4):c.490A>G (p.Ile164Val) rs143511445 0.00173
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr) rs140992177 0.00171
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857 0.00171
NM_005422.4(TECTA):c.2061C>G (p.Asn687Lys) rs139165033 0.00171
NM_004525.3(LRP2):c.3122A>G (p.Asn1041Ser) rs143028579 0.00170
NM_015425.6(POLR1A):c.2017C>G (p.Pro673Ala) rs191928354 0.00170
NM_178335.3(CCDC50):c.1276A>G (p.Lys426Glu) rs114146378 0.00170
NM_003859.3(DPM1):c.40C>T (p.Arg14Trp) rs117175017 0.00169
NM_000051.4(ATM):c.609C>T (p.Asp203=) rs144709948 0.00166
NM_003193.5(TBCE):c.394G>A (p.Val132Ile) rs144448831 0.00164
NM_000044.6(AR):c.1174C>T (p.Pro392Ser) rs201934623 0.00163
NM_006019.4(TCIRG1):c.90C>T (p.Gly30=) rs141859450 0.00162
NM_000038.6(APC):c.120G>A (p.Glu40=) rs142720069 0.00161
NM_024675.4(PALB2):c.400G>A (p.Asp134Asn) rs139555085 0.00160
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_000123.4(ERCC5):c.1789G>C (p.Val597Leu) rs4150319 0.00158
NM_024996.7(GFM1):c.788A>G (p.Gln263Arg) rs115984741 0.00158
NM_002528.7(NTHL1):c.503T>C (p.Ile168Thr) rs1805378 0.00155
NM_001048174.2(MUTYH):c.1501C>A (p.Leu501Met) rs3219496 0.00154
NM_000022.4(ADA):c.402C>T (p.Gly134=) rs146921882 0.00153
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) rs1800552 0.00153
NM_016239.4(MYO15A):c.1111C>A (p.Pro371Thr) rs200382813 0.00153
NM_000789.4(ACE):c.209C>T (p.Ala70Val) rs372565955 0.00152
NM_002253.4(KDR):c.1615G>A (p.Gly539Arg) rs55716939 0.00150
NM_000359.3(TGM1):c.61A>G (p.Thr21Ala) rs140542428 0.00149
NM_000081.4(LYST):c.6710A>C (p.Gln2237Pro) rs138443479 0.00148
NM_007294.4(BRCA1):c.2109A>G (p.Thr703=) rs4986844 0.00147
NM_015102.5(NPHP4):c.2519G>A (p.Ser840Asn) rs147588666 0.00147
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600 0.00146
NM_001288705.3(CSF1R):c.2862C>T (p.Cys954=) rs56005231 0.00146
NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg) rs149781976 0.00146
NM_007294.4(BRCA1):c.4600G>A (p.Val1534Met) rs55815649 0.00145
NM_002180.3(IGHMBP2):c.2922T>G (p.Asp974Glu) rs147674615 0.00144
NM_000249.4(MLH1):c.2146G>A (p.Val716Met) rs35831931 0.00143
NM_003079.5(SMARCE1):c.1079G>A (p.Gly360Asp) rs142193069 0.00143
NM_002691.4(POLD1):c.2967G>A (p.Thr989=) rs3218752 0.00142
NM_015425.6(POLR1A):c.1097C>T (p.Ser366Phe) rs183490100 0.00142
NM_001164508.2(NEB):c.23776C>T (p.Pro7926Ser) rs193224180 0.00140
NM_005045.4(RELN):c.3477C>A (p.Asn1159Lys) rs114684479 0.00140
NM_015294.6(TRIM37):c.1919G>A (p.Arg640His) rs112762655 0.00140
NM_000601.6(HGF):c.137C>T (p.Ala46Val) rs150267054 0.00139
NM_000094.4(COL7A1):c.1613G>A (p.Arg538His) rs138791004 0.00138
NM_173076.3(ABCA12):c.2033A>G (p.Asn678Ser) rs147218173 0.00138
NM_000044.6(AR):c.2395C>G (p.Gln799Glu) rs137852591 0.00137
NM_000051.4(ATM):c.998C>T (p.Ser333Phe) rs28904919 0.00137
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709 0.00137
NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys) rs200649500 0.00136
NM_181882.3(PRX):c.1574T>C (p.Val525Ala) rs149715830 0.00136
NM_000213.5(ITGB4):c.1345G>A (p.Gly449Ser) rs147963396 0.00135
NM_144508.5(KNL1):c.4772A>G (p.Asn1591Ser) rs200656662 0.00135
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=) rs28897762 0.00132
NM_000336.3(SCNN1B):c.466C>T (p.Arg156Trp) rs139310448 0.00132
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111 0.00132
NM_000369.5(TSHR):c.1600C>T (p.Arg534Cys) rs150602845 0.00132
NM_001447.3(FAT2):c.3399C>A (p.Asn1133Lys) rs138913417 0.00132
NM_003722.5(TP63):c.580-11A>T rs148217164 0.00131
NM_032119.4(ADGRV1):c.11974G>A (p.Asp3992Asn) rs201386977 0.00131
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192 0.00130
NM_000305.3(PON2):c.358A>G (p.Ile120Val) rs116397473 0.00129
NM_001365951.3(KIF1B):c.2115+6625G>A rs145248590 0.00129
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu) rs104893941 0.00129
NM_004260.4(RECQL4):c.716C>T (p.Ala239Val) rs146709578 0.00129
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr) rs139866691 0.00129
NM_004655.4(AXIN2):c.1807G>C (p.Ala603Pro) rs145353986 0.00128
NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile) rs77358650 0.00127
NM_133261.3(GIPC3):c.856G>A (p.Val286Ile) rs138339125 0.00126
NM_000222.3(KIT):c.1588G>A (p.Val530Ile) rs72550822 0.00125
NM_001698.3(AUH):c.381A>G (p.Ile127Met) rs146227896 0.00125
NM_001018115.3(FANCD2):c.983G>A (p.Arg328Gln) rs35625434 0.00124
NM_001142800.2(EYS):c.5743A>G (p.Ser1915Gly) rs188093810 0.00124
NM_012232.6(CAVIN1):c.540G>A (p.Glu180=) rs143511306 0.00124
NM_004525.3(LRP2):c.13921A>T (p.Thr4641Ser) rs79179577 0.00123
NM_173560.4(RFX6):c.223G>C (p.Glu75Gln) rs201996097 0.00121
NM_000059.4(BRCA2):c.9257-49T>C rs117850955 0.00120
NM_006225.4(PLCD1):c.35-4000A>G rs143961610 0.00117
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_020435.4(GJC2):c.575C>G (p.Pro192Arg) rs375318012 0.00116
NM_000094.4(COL7A1):c.4559C>T (p.Pro1520Leu) rs140114392 0.00113
NM_001009944.3(PKD1):c.8161+12C>T rs375283810 0.00113
NM_000044.6(AR):c.170T>A (p.Leu57Gln) rs78686797 0.00112
NM_001941.5(DSC3):c.2488G>A (p.Gly830Ser) rs142851621 0.00112
NM_022369.4(STRA6):c.1685-5C>G rs201730717 0.00112
NM_000029.4(AGT):c.151T>C (p.Cys51Arg) rs61731497 0.00110
NM_000044.6(AR):c.1424C>T (p.Ala475Val) rs200390780 0.00110
NM_000249.4(MLH1):c.-28A>G rs56198082 0.00110
NM_000307.5(POU3F4):c.139C>T (p.Pro47Ser) rs144417952 0.00110
NM_002691.4(POLD1):c.2275G>A (p.Val759Ile) rs145473716 0.00110
NM_000094.4(COL7A1):c.8371C>T (p.Arg2791Trp) rs142566193 0.00109
NM_004525.3(LRP2):c.391A>G (p.Arg131Gly) rs34592807 0.00109
NM_000404.4(GLB1):c.623G>A (p.Arg208His) rs111840209 0.00106
NM_007294.4(BRCA1):c.3083G>A (p.Arg1028His) rs80357459 0.00106
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519 0.00105
NM_006206.6(PDGFRA):c.1731G>A (p.Pro577=) rs55830582 0.00105
NM_032581.4(HYCC1):c.191A>G (p.Tyr64Cys) rs146913158 0.00105
NM_173076.3(ABCA12):c.6919A>G (p.Ile2307Val) rs150196545 0.00105
NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp) rs28997569 0.00104
NM_000125.4(ESR1):c.406C>T (p.Pro136Ser) rs201145204 0.00103
NM_000426.4(LAMA2):c.1814C>T (p.Thr605Ile) rs112388307 0.00103
NM_018480.7(TMEM126B):c.635G>T (p.Gly212Val) rs141542003 0.00103
NM_001166108.2(PALLD):c.1965-12594T>G rs587780760 0.00102
NM_006946.4(SPTBN2):c.1972C>T (p.Arg658Trp) rs199968321 0.00102
NM_181507.2(HPS5):c.241G>A (p.Ala81Thr) rs147053126 0.00102
NM_001368894.2(PAX6):c.141+55G>A rs571151963 0.00101
NM_001378609.3(OTOGL):c.1815G>T (p.Gln605His) rs192234924 0.00101
NM_138694.4(PKHD1):c.275G>A (p.Arg92Gln) rs145886657 0.00101
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624 0.00100
NM_001382347.1(MYO5A):c.3136G>A (p.Val1046Met) rs56132571 0.00099
NM_003172.4(SURF1):c.211G>C (p.Val71Leu) rs147993882 0.00099
NM_005236.3(ERCC4):c.1563C>G (p.Ser521Arg) rs41552412 0.00099
NM_020631.6(PLEKHG5):c.-88+6287G>A rs554689677 0.00099
NM_000094.4(COL7A1):c.5819C>T (p.Pro1940Leu) rs149267939 0.00098
NM_001171.6(ABCC6):c.2695C>T (p.Arg899Cys) rs11861980 0.00098
NM_213599.3(ANO5):c.692G>T (p.Gly231Val) rs137854523 0.00098
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=) rs11571655 0.00097
NM_012414.4(RAB3GAP2):c.2290C>T (p.Leu764Phe) rs139337049 0.00097
NM_000036.3(AMPD1):c.468G>T (p.Gln156His) rs139582106 0.00096
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711 0.00096
NM_016038.4(SBDS):c.127G>T (p.Val43Leu) rs147652512 0.00096
NM_001384479.1(AGT):c.704T>G (p.Leu235Arg) rs5041 0.00095
NM_000038.6(APC):c.7514G>A (p.Arg2505Gln) rs147549623 0.00093
NM_004999.4(MYO6):c.92T>C (p.Ile31Thr) rs148735953 0.00093
NM_014915.3(ANKRD26):c.542C>T (p.Thr181Ile) rs191015656 0.00093
NM_004407.4(DMP1):c.1151G>A (p.Ser384Asn) rs148498977 0.00092
NM_004407.4(DMP1):c.263C>T (p.Ala88Val) rs144773084 0.00092
NM_022081.6(HPS4):c.1543T>C (p.Cys515Arg) rs148134252 0.00092
NM_173076.3(ABCA12):c.3481A>T (p.Met1161Leu) rs141077206 0.00092
NM_000493.4(COL10A1):c.43T>G (p.Leu15Val) rs147612968 0.00091
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys) rs201680145 0.00089
NM_000535.7(PMS2):c.180C>G (p.Asp60Glu) rs200313585 0.00088
NM_005670.4(EPM2A):c.680C>T (p.Ala227Val) rs147399860 0.00087
NM_001358921.2(COQ2):c.44C>G (p.Ala15Gly) rs555411841 0.00086
NM_001377265.1(MAPT):c.1891G>A (p.Ala631Thr) rs63750096 0.00085
NM_004621.6(TRPC6):c.1260G>A (p.Leu420=) rs138155461 0.00085
NM_198578.4(LRRK2):c.2378G>T (p.Arg793Met) rs35173587 0.00085
NM_001083116.3(PRF1):c.1620A>G (p.Gln540=) rs149776121 0.00083
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly) rs151023718 0.00083
NM_032119.4(ADGRV1):c.9447+6G>A rs201481219 0.00083
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg) rs28897706 0.00082
NM_001358530.2(MOCS1):c.853G>A (p.Glu285Lys) rs140243105 0.00081
NM_002496.4(NDUFS8):c.19C>A (p.Pro7Thr) rs142658611 0.00081
NM_000238.4(KCNH2):c.2398+178C>T rs41314366 0.00080
NM_001848.3(COL6A1):c.350T>C (p.Val117Ala) rs138899581 0.00080
NM_173477.5(USH1G):c.1258C>G (p.Leu420Val) rs139897506 0.00080
NM_000238.4(KCNH2):c.2617G>A (p.Gly873Ser) rs41314354 0.00079
NM_000283.4(PDE6B):c.794G>A (p.Arg265Gln) rs144562730 0.00079
NM_001378609.3(OTOGL):c.3675G>C (p.Gln1225His) rs139375212 0.00079
NM_207122.2(EXT2):c.1588G>A (p.Glu530Lys) rs148711133 0.00079
NM_001211.6(BUB1B):c.3094A>C (p.Asn1032His) rs34700927 0.00077
NM_007294.4(BRCA1):c.-86C>T rs143160357 0.00077
NM_001378969.1(KCND3):c.1573A>G (p.Met525Val) rs145890206 0.00076
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro) rs141137543 0.00075
NM_004655.4(AXIN2):c.1168A>G (p.Ser390Gly) rs139871607 0.00075
NM_014363.6(SACS):c.2146C>T (p.His716Tyr) rs146852400 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_000136.3(FANCC):c.816C>T (p.Ile272=) rs55719336 0.00074
NM_001165963.4(SCN1A):c.5951C>A (p.Pro1984His) rs146733308 0.00074
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678 0.00074
NM_000070.3(CAPN3):c.2257G>A (p.Asp753Asn) rs146923842 0.00073
NM_001127178.3(PIGG):c.1515G>A (p.Trp505Ter) rs150259543 0.00073
NM_022464.5(SIL1):c.1039G>A (p.Glu347Lys) rs73265454 0.00073
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325 0.00072
NM_001267550.2(TTN):c.38902C>T (p.Pro12968Ser) rs192528655 0.00072
NM_003835.4(RGS9):c.1658T>C (p.Val553Ala) rs201026246 0.00072
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu) rs2235006 0.00071
NM_003742.4(ABCB11):c.3512T>C (p.Met1171Thr) rs183621659 0.00071
NM_005245.4(FAT1):c.7130C>T (p.Thr2377Met) rs201363601 0.00071
NM_006231.4(POLE):c.6004+11A>G rs201591857 0.00071
NM_007194.4(CHEK2):c.320-5T>A rs121908700 0.00070
NM_025074.7(FRAS1):c.1783G>A (p.Gly595Ser) rs149843493 0.00070
NM_177438.3(DICER1):c.59C>T (p.Ala20Val) rs147660793 0.00070
NM_032043.3(BRIP1):c.3459T>C (p.Asp1153=) rs4987050 0.00069
NM_001277058.2(ERCC6):c.2027T>G (p.Val676Gly) rs139949788 0.00068
NM_001038.6(SCNN1A):c.614G>A (p.Ser205Asn) rs147866964 0.00067
NM_001127217.3(SMAD9):c.1035G>A (p.Val345=) rs150237947 0.00067
NM_005529.7(HSPG2):c.7235G>A (p.Ser2412Asn) rs146309392 0.00066
NM_007294.4(BRCA1):c.1427A>G (p.His476Arg) rs55720177 0.00066
NM_007294.4(BRCA1):c.2733A>G (p.Gly911=) rs1800740 0.00066
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu) rs41276525 0.00065
NM_002491.3(NDUFB3):c.19C>T (p.His7Tyr) rs144513268 0.00065
NM_003977.4(AIP):c.896C>T (p.Ala299Val) rs148986773 0.00065
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704 0.00065
NM_007294.4(BRCA1):c.981A>G (p.Thr327=) rs1800063 0.00065
NM_015375.3(DSTYK):c.86G>A (p.Arg29Gln) rs200780796 0.00065
NM_004360.5(CDH1):c.2520C>T (p.Ser840=) rs140328601 0.00064
NM_006206.6(PDGFRA):c.1325T>C (p.Leu442Pro) rs139236922 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_001018115.3(FANCD2):c.3446C>T (p.Ala1149Val) rs147675860 0.00063
NM_001164508.2(NEB):c.6088C>T (p.Leu2030Phe) rs200251444 0.00063
NM_004807.3(HS6ST1):c.1144C>T (p.Arg382Trp) rs199538589 0.00063
NM_001009944.3(PKD1):c.4856C>T (p.Ser1619Phe) rs146723506 0.00061
NM_001303256.3(MORC2):c.2044G>A (p.Val682Ile) rs144493873 0.00061
NM_006767.4(LZTR1):c.1723G>A (p.Asp575Asn) rs139368531 0.00061
NM_000554.6(CRX):c.28C>G (p.His10Asp) rs139340178 0.00060
NM_001448.3(GPC4):c.772C>T (p.Arg258Trp) rs199910189 0.00060
NM_004168.4(SDHA):c.133G>A (p.Ala45Thr) rs140736646 0.00060
NM_005422.4(TECTA):c.2444C>T (p.Thr815Met) rs111759871 0.00060
NM_000059.4(BRCA2):c.10121C>T (p.Thr3374Ile) rs56309455 0.00059
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala) rs146176004 0.00059
NM_000208.4(INSR):c.1550A>G (p.Glu517Gly) rs147671523 0.00058
NM_004329.3(BMPR1A):c.1419T>G (p.Val473=) rs145756629 0.00058
NM_016239.4(MYO15A):c.7984C>G (p.Leu2662Val) rs200930743 0.00058
NM_173076.3(ABCA12):c.5221C>T (p.Arg1741Cys) rs141036904 0.00058
NM_000349.3(STAR):c.179-14G>A rs117578796 0.00057
NM_001009944.3(PKD1):c.7429C>T (p.Arg2477Cys) rs376283361 0.00057
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser) rs192766485 0.00057
NM_004064.5(CDKN1B):c.356T>C (p.Ile119Thr) rs142833529 0.00057
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly) rs148725540 0.00056
NM_000057.4(BLM):c.968A>G (p.Lys323Arg) rs146504061 0.00056
NM_000059.4(BRCA2):c.2145A>G (p.Gly715=) rs112566179 0.00056
NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr) rs17227396 0.00056
NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys) rs199692186 0.00056
NM_002074.5(GNB1):c.916+5G>A rs185462709 0.00056
NM_004706.4(ARHGEF1):c.-17C>T rs545895111 0.00056
NM_003977.4(AIP):c.807C>T (p.Phe269=) rs139407567 0.00055
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712 0.00054
NM_001429.4(EP300):c.316A>G (p.Ser106Gly) rs150245975 0.00054
NM_007194.4(CHEK2):c.793-11G>A rs5997387 0.00054
NM_007294.4(BRCA1):c.301+8T>C rs80358101 0.00054
NM_000059.4(BRCA2):c.7435+6G>A rs81002852 0.00053
NM_001009944.3(PKD1):c.11356G>C (p.Glu3786Gln) rs147992238 0.00053
NM_016239.4(MYO15A):c.3359G>A (p.Arg1120His) rs200738532 0.00053
NM_133379.5(TTN):c.14812A>G (p.Met4938Val) rs145581345 0.00053
NM_174916.3(UBR1):c.3290C>T (p.Thr1097Met) rs142285781 0.00053
NM_000388.4(CASR):c.1192G>A (p.Asp398Asn) rs201177696 0.00052
NM_002585.4(PBX1):c.92G>T (p.Gly31Val) rs192264696 0.00052
NM_000136.3(FANCC):c.934A>G (p.Ile312Val) rs1800366 0.00051
NM_000369.5(TSHR):c.463A>T (p.Ile155Leu) rs141293178 0.00051
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe) rs200078204 0.00051
NM_004933.3(CDH15):c.365C>T (p.Ala122Val) rs121434541 0.00051
NM_005245.4(FAT1):c.3874G>A (p.Glu1292Lys) rs184443677 0.00051
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927 0.00051
NM_000207.3(INS):c.227G>A (p.Ser76Asn) rs139264769 0.00050
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496 0.00050
NM_000497.4(CYP11B1):c.29G>A (p.Cys10Tyr) rs6405 0.00049
NM_005529.7(HSPG2):c.11072C>T (p.Thr3691Ile) rs149159881 0.00049
NM_006231.4(POLE):c.4730A>C (p.Glu1577Ala) rs5744948 0.00049
NM_020754.4(ARHGAP31):c.3104C>T (p.Thr1035Ile) rs201997376 0.00049
NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744 0.00048
NM_000179.3(MSH6):c.2667G>T (p.Gln889His) rs149945495 0.00048
NM_020928.2(ZSWIM6):c.1472A>G (p.Asn491Ser) rs201912422 0.00048
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_000059.4(BRCA2):c.9649-19G>A rs11571830 0.00047
NM_000059.4(BRCA2):c.9843A>G (p.Pro3281=) rs11571832 0.00047
NM_000478.6(ALPL):c.744C>T (p.Asp248=) rs188689330 0.00047
NM_001395656.1(ROBO2):c.3267G>A (p.Thr1089=) rs200783298 0.00047
NM_016239.4(MYO15A):c.3203G>T (p.Cys1068Phe) rs189061214 0.00047
NM_198834.3(ACACA):c.3132C>G (p.Asp1044Glu) rs140628687 0.00047
NM_000059.4(BRCA2):c.7976+45G>C rs11571718 0.00046
NM_001457.4(FLNB):c.4495G>A (p.Asp1499Asn) rs150445941 0.00046
NM_006231.4(POLE):c.1337G>A (p.Arg446Gln) rs151273553 0.00046
NM_057175.5(NAA15):c.850T>G (p.Trp284Gly) rs202230897 0.00046
NM_207361.6(FREM2):c.4960A>C (p.Ser1654Arg) rs114595447 0.00046
NM_001009944.3(PKD1):c.10654G>T (p.Ala3552Ser) rs141670808 0.00045
NM_002691.4(POLD1):c.2052G>C (p.Gln684His) rs144143245 0.00045
NM_003467.3(CXCR4):c.157A>C (p.Ile53Leu) rs56400844 0.00045
NM_016204.4(GDF2):c.871G>A (p.Gly291Ser) rs201711410 0.00045
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg) rs28897728 0.00044
NM_000375.3(UROS):c.22G>A (p.Asp8Asn) rs558929395 0.00044
NM_022124.6(CDH23):c.5038G>A (p.Val1680Ile) rs201364852 0.00044
NM_001358530.2(MOCS1):c.1015C>T (p.Arg339Trp) rs148579886 0.00043
NM_177438.3(DICER1):c.4206+11_4206+13del rs752585711 0.00043
NM_001273.5(CHD4):c.5002G>C (p.Glu1668Gln) rs201047688 0.00042
NM_005562.3(LAMC2):c.599C>A (p.Ala200Glu) rs138266625 0.00042
NM_023110.3(FGFR1):c.899T>C (p.Ile300Thr) rs121909633 0.00042
NM_173477.5(USH1G):c.837C>G (p.Asp279Glu) rs142486910 0.00042
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val) rs138417003 0.00041
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771 0.00041
NM_002691.4(POLD1):c.1932C>G (p.Asp644Glu) rs80214209 0.00041
NM_014467.3(SRPX2):c.980A>G (p.Asn327Ser) rs121918363 0.00041
NM_020117.11(LARS1):c.1369C>T (p.Arg457Trp) rs151245897 0.00041
NM_152703.5(SAMD9L):c.2069G>A (p.Gly690Asp) rs147903234 0.00041
NM_000249.4(MLH1):c.198C>T (p.Thr66=) rs61751642 0.00040
NM_000190.4(HMBS):c.1075G>A (p.Asp359Asn) rs144949995 0.00039
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 0.00039
NM_007294.4(BRCA1):c.301+146A>C rs571713225 0.00039
NM_024408.4(NOTCH2):c.1804G>A (p.Ala602Thr) rs140311741 0.00039
NM_182476.3(COQ6):c.449A>G (p.His150Arg) rs144880038 0.00039
NM_001377265.1(MAPT):c.889C>A (p.Arg297Ser) rs150983093 0.00038
NM_005591.4(MRE11):c.1727G>A (p.Arg576Gln) rs139461096 0.00038
NM_019066.5(MAGEL2):c.41C>A (p.Pro14Gln) rs769643348 0.00038
NM_032119.4(ADGRV1):c.15608A>G (p.Glu5203Gly) rs202106463 0.00038
NM_001005271.3(CHD3):c.251C>T (p.Pro84Leu) rs766660828 0.00037
NM_001039141.3(TRIOBP):c.709C>T (p.Arg237Trp) rs144995033 0.00037
NM_003977.4(AIP):c.26G>A (p.Arg9Gln) rs139459091 0.00037
NM_014915.3(ANKRD26):c.4490T>A (p.Val1497Asp) rs149647444 0.00037
NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys) rs199669878 0.00036
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_001184.4(ATR):c.2704T>C (p.Ser902Pro) rs146202702 0.00036
NM_001349253.2(SCN11A):c.1257G>T (p.Lys419Asn) rs150269814 0.00036
NM_005199.5(CHRNG):c.507-12G>A rs184423691 0.00036
NM_005850.5(SF3B4):c.915G>T (p.Gly305=) rs370887294 0.00036
NM_016239.4(MYO15A):c.3659G>A (p.Gly1220Glu) rs201689819 0.00036
NM_198994.3(TGM6):c.115A>T (p.Ser39Cys) rs144201778 0.00036
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500 0.00035
NM_000222.3(KIT):c.821C>T (p.Thr274Met) rs138585275 0.00035
NM_000369.5(TSHR):c.2161G>T (p.Val721Phe) rs61745409 0.00035
NM_001080414.4(CCDC88C):c.4375G>A (p.Asp1459Asn) rs78570354 0.00035
NM_024675.4(PALB2):c.1470C>T (p.Pro490=) rs45612837 0.00035
NM_030665.4(RAI1):c.516C>A (p.His172Gln) rs147481626 0.00035
NM_000038.6(APC):c.607C>G (p.Gln203Glu) rs141576417 0.00034
NM_002474.3(MYH11):c.472G>A (p.Ala158Thr) rs375998236 0.00034
NM_003659.4(AGPS):c.148C>T (p.Arg50Trp) rs778087162 0.00034
NM_004456.5(EZH2):c.657T>C (p.Pro219=) rs148843424 0.00034
NM_006231.4(POLE):c.4246G>A (p.Ala1416Thr) rs146711942 0.00034
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931 0.00034
NM_014244.5(ADAMTS2):c.3195C>T (p.Gly1065=) rs778572930 0.00034
NM_021870.3(FGG):c.124G>A (p.Gly42Ser) rs202132393 0.00034
NM_000251.3(MSH2):c.2154A>G (p.Gln718=) rs63750810 0.00033
NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val) rs121912714 0.00033
NM_001145809.2(MYH14):c.1427G>A (p.Arg476His) rs375694189 0.00033
NM_001288705.3(CSF1R):c.2746G>A (p.Glu916Lys) rs142435467 0.00033
NM_015102.5(NPHP4):c.944C>T (p.Thr315Met) rs200684272 0.00033
NM_000059.4(BRCA2):c.223G>C (p.Ala75Pro) rs28897701 0.00032
NM_000535.7(PMS2):c.988+11T>C rs139969671 0.00032
NM_000719.7(CACNA1C):c.6161A>G (p.Lys2054Arg) rs200588235 0.00032
NM_005732.4(RAD50):c.2647C>T (p.Arg883Cys) rs138749920 0.00032
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873 0.00032
NM_016239.4(MYO15A):c.730G>A (p.Asp244Asn) rs199899548 0.00032
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375 0.00031
NM_001039141.3(TRIOBP):c.6556G>A (p.Gly2186Ser) rs191901426 0.00031
NM_001048174.2(MUTYH):c.1392+2C>T rs140288388 0.00031
NM_001164508.2(NEB):c.6817A>G (p.Lys2273Glu) rs199700878 0.00031
NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser) rs145172612 0.00031
NM_003126.4(SPTA1):c.3839A>G (p.Asp1280Gly) rs200890386 0.00031
NM_004260.4(RECQL4):c.2967G>A (p.Met989Ile) rs200018416 0.00031
NM_005529.7(HSPG2):c.83C>T (p.Ala28Val) rs754643779 0.00031
NM_014363.6(SACS):c.2580A>G (p.Gln860=) rs41283958 0.00031
NM_017436.7(A4GALT):c.892G>T (p.Asp298Tyr) rs200414851 0.00031
NM_000051.4(ATM):c.4949A>G (p.Asn1650Ser) rs55870064 0.00030
NM_000210.4(ITGA6):c.1850T>C (p.Ile617Thr) rs148815652 0.00030
NM_001379081.2(FREM1):c.4945A>G (p.Ile1649Val) rs199891537 0.00030
NM_015294.6(TRIM37):c.1357T>A (p.Leu453Met) rs200578021 0.00030
NM_153676.4(USH1C):c.1858C>T (p.Arg620Cys) rs143160805 0.00030
NM_002354.3(EPCAM):c.577A>G (p.Ile193Val) rs200676965 0.00029
NM_005529.7(HSPG2):c.8899G>A (p.Ala2967Thr) rs143274889 0.00029
NM_133379.5(TTN):c.13364A>G (p.Lys4455Arg) rs142304137 0.00029
NM_175614.5(NDUFA11):c.138G>A (p.Pro46=) rs138889960 0.00029
NM_000038.6(APC):c.3511C>T (p.Arg1171Cys) rs201830995 0.00028
NM_000059.4(BRCA2):c.425+33A>G rs200065709 0.00028
NM_000136.3(FANCC):c.973G>A (p.Ala325Thr) rs201407189 0.00028
NM_000137.4(FAH):c.1062+5G>A rs80338901 0.00028
NM_000168.6(GLI3):c.2119C>T (p.Pro707Ser) rs121917716 0.00028
NM_001371928.1(AHDC1):c.4603G>A (p.Ala1535Thr) rs193153262 0.00028
NM_002439.5(MSH3):c.356C>T (p.Ser119Phe) rs144607594 0.00028
NM_004360.5(CDH1):c.892G>A (p.Ala298Thr) rs142822590 0.00028
NM_007294.4(BRCA1):c.548-17G>T rs80358014 0.00028
NM_001267550.2(TTN):c.61409T>C (p.Ile20470Thr) rs202012910 0.00027
NM_004360.5(CDH1):c.303C>T (p.Tyr101=) rs150789339 0.00027
NM_006231.4(POLE):c.4941C>T (p.Phe1647=) rs145639967 0.00027
NM_020937.4(FANCM):c.4366C>T (p.Arg1456Cys) rs200360968 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.2412A>G (p.Glu804=) rs587780866 0.00026
NM_000059.4(BRCA2):c.4686A>G (p.Gln1562=) rs28897730 0.00026
NM_000059.4(BRCA2):c.516+14C>T rs182828913 0.00026
NM_000059.4(BRCA2):c.6853A>G (p.Ile2285Val) rs56272235 0.00026
NM_000539.3(RHO):c.919A>T (p.Ile307Phe) rs771322615 0.00026
NM_003482.4(KMT2D):c.6437C>T (p.Pro2146Leu) rs563981206 0.00026
NM_005245.4(FAT1):c.2236A>G (p.Thr746Ala) rs372906523 0.00026
NM_005732.4(RAD50):c.1094G>A (p.Arg365Gln) rs146370443 0.00026
NM_006496.4(GNAI3):c.509C>T (p.Thr170Ile) rs61754626 0.00026
NM_021930.6(RINT1):c.782C>T (p.Pro261Leu) rs199535472 0.00026
NM_000535.7(PMS2):c.1242C>T (p.Asp414=) rs142839559 0.00025
NM_000548.5(TSC2):c.5262C>G (p.Ile1754Met) rs397515318 0.00025
NM_001077653.2(TBX20):c.414G>A (p.Ser138=) rs144597480 0.00025
NM_001851.6(COL9A1):c.1634G>A (p.Arg545His) rs145698301 0.00025
NM_003571.4(BFSP2):c.1115C>T (p.Ala372Val) rs139944598 0.00025
NM_004985.5(KRAS):c.24A>G (p.Val8=) rs147406419 0.00025
NM_005529.7(HSPG2):c.5297C>T (p.Ala1766Val) rs139794766 0.00025
NM_000038.6(APC):c.5274T>A (p.Ser1758=) rs199600387 0.00024
NM_000350.3(ABCA4):c.3758C>T (p.Thr1253Met) rs61752424 0.00024
NM_005373.3(MPL):c.549G>A (p.Thr183=) rs147130173 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_020366.4(RPGRIP1):c.2435G>A (p.Arg812Gln) rs190490019 0.00024
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098 0.00024
NM_133379.5(TTN):c.15302A>G (p.Glu5101Gly) rs142973956 0.00024
NM_205861.3(DHDDS):c.908C>T (p.Ser303Leu) rs141852437 0.00024
NM_000190.4(HMBS):c.380C>A (p.Pro127Gln) rs200998739 0.00023
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln) rs149866955 0.00023
NM_001457.4(FLNB):c.4966G>C (p.Asp1656His) rs574654024 0.00023
NM_016006.6(ABHD5):c.26A>G (p.Asp9Gly) rs144420157 0.00023
NM_198578.4(LRRK2):c.2264C>T (p.Pro755Leu) rs34410987 0.00023
NM_000038.6(APC):c.7036C>T (p.Pro2346Ser) rs200756935 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_000251.3(MSH2):c.1787A>G (p.Asn596Ser) rs41295288 0.00022
NM_000369.5(TSHR):c.202C>T (p.Pro68Ser) rs142063461 0.00022
NM_001009944.3(PKD1):c.3679G>T (p.Ala1227Ser) rs150710956 0.00022
NM_004360.5(CDH1):c.1018A>G (p.Thr340Ala) rs116093741 0.00022
NM_004360.5(CDH1):c.33G>C (p.Leu11=) rs730881654 0.00022
NM_005228.5(EGFR):c.844G>A (p.Glu282Lys) rs199796955 0.00022
NM_006019.4(TCIRG1):c.2445C>T (p.Gly815=) rs150788130 0.00022
NM_053025.4(MYLK):c.5477C>T (p.Ala1826Val) rs147187907 0.00022
NM_173076.3(ABCA12):c.1222T>C (p.Ser408Pro) rs189141015 0.00022
NM_000038.6(APC):c.3352A>G (p.Asn1118Asp) rs140493115 0.00021
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755 0.00021
NM_000094.4(COL7A1):c.923T>C (p.Ile308Thr) rs145738101 0.00021
NM_000330.4(RS1):c.264G>C (p.Gln88His) rs201680258 0.00021
NM_000492.4(CFTR):c.1312A>G (p.Thr438Ala) rs201434579 0.00021
NM_004525.3(LRP2):c.6130G>A (p.Ala2044Thr) rs142266106 0.00021
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys) rs28897683 0.00021
NM_014244.5(ADAMTS2):c.3154T>G (p.Ser1052Ala) rs201390756 0.00021
NM_020937.4(FANCM):c.5108A>G (p.His1703Arg) rs146897650 0.00021
NM_139027.6(ADAMTS13):c.2545G>A (p.Val849Ile) rs140639242 0.00021
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly) rs56403624 0.00020
NM_000059.4(BRCA2):c.5710C>G (p.Leu1904Val) rs55875643 0.00020
NM_000136.3(FANCC):c.1407G>A (p.Thr469=) rs79722116 0.00020
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln) rs63750361 0.00020
NM_003482.4(KMT2D):c.6836G>A (p.Gly2279Glu) rs200578414 0.00020
NM_000038.6(APC):c.3249T>G (p.Asp1083Glu) rs201629780 0.00019
NM_000051.4(ATM):c.295A>G (p.Ser99Gly) rs137882485 0.00019
NM_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys) rs55794205 0.00019
NM_000179.3(MSH6):c.4001+11_4001+15dup rs587779302 0.00019
NM_000249.4(MLH1):c.394G>C (p.Asp132His) rs28930073 0.00019
NM_000372.5(TYR):c.823G>T (p.Val275Phe) rs104894314 0.00019
NM_000484.4(APP):c.982C>T (p.Arg328Trp) rs200978018 0.00019
NM_000492.4(CFTR):c.3041A>G (p.Tyr1014Cys) rs149279509 0.00019
NM_001136193.2(FASTKD2):c.756G>A (p.Gln252=) rs377619612 0.00019
NM_001853.4(COL9A3):c.481C>T (p.His161Tyr) rs150207068 0.00019
NM_001909.5(CTSD):c.294G>A (p.Thr98=) rs369373285 0.00019
NM_003282.4(TNNI2):c.61G>A (p.Val21Met) rs200110633 0.00019
NM_015330.6(SPECC1L):c.2440G>A (p.Val814Ile) rs139167350 0.00019
NM_017780.4(CHD7):c.8366C>T (p.Ala2789Val) rs376934539 0.00019
NM_025114.4(CEP290):c.7015C>T (p.Arg2339Trp) rs200969981 0.00019
NM_000059.4(BRCA2):c.7976+23C>T rs183623188 0.00018
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr) rs63749910 0.00018
NM_000399.5(EGR2):c.457A>C (p.Thr153Pro) rs202183386 0.00018
NM_004525.3(LRP2):c.10661G>A (p.Arg3554Gln) rs139257219 0.00018
NM_005373.3(MPL):c.79+2T>A rs146249964 0.00018
NM_006231.4(POLE):c.1597G>A (p.Val533Met) rs374140892 0.00018
NM_006231.4(POLE):c.6751T>C (p.Phe2251Leu) rs373768478 0.00018
NM_007294.4(BRCA1):c.5406+33A>T rs80358092 0.00018
NM_201384.3(PLEC):c.6416G>A (p.Arg2139His) rs372652727 0.00018
NM_000059.4(BRCA2):c.10203G>A (p.Thr3401=) rs147854265 0.00017
NM_000179.3(MSH6):c.867C>A (p.Gly289=) rs267608047 0.00017
NM_000264.5(PTCH1):c.3617G>A (p.Arg1206His) rs560967532 0.00017
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met) rs587780046 0.00017
NM_001244926.2(PRPF4):c.739A>G (p.Thr247Ala) rs563764064 0.00017
NM_003098.3(SNTA1):c.430T>G (p.Ser144Ala) rs142978180 0.00017
NM_170665.4(ATP2A2):c.1096A>G (p.Met366Val) rs199776454 0.00017
NM_000038.6(APC):c.6510A>C (p.Pro2170=) rs138571760 0.00016
NM_000069.3(CACNA1S):c.262A>G (p.Lys88Glu) rs140330831 0.00016
NM_000249.4(MLH1):c.2101C>A (p.Gln701Lys) rs63750114 0.00016
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr) rs201343342 0.00016
NM_001040108.2(MLH3):c.713A>C (p.Tyr238Ser) rs144707485 0.00016
NM_001204.7(BMPR2):c.545G>A (p.Gly182Asp) rs137852754 0.00016
NM_001267550.2(TTN):c.12145C>T (p.Pro4049Ser) rs201888760 0.00016
NM_001267550.2(TTN):c.63626G>A (p.Arg21209Gln) rs148684589 0.00016
NM_001376.5(DYNC1H1):c.13385G>A (p.Arg4462Gln) rs376608392 0.00016
NM_002491.3(NDUFB3):c.208G>T (p.Gly70Ter) rs200800978 0.00016
NM_003560.4(PLA2G6):c.564C>T (p.Thr188=) rs185396488 0.00016
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu) rs80357201 0.00016
NM_022455.5(NSD1):c.7576C>T (p.Pro2526Ser) rs373932824 0.00016
NM_080916.3(DGUOK):c.366G>C (p.Gln122His) rs199645258 0.00016
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys) rs111033258 0.00016
NM_000249.4(MLH1):c.1820T>A (p.Leu607His) rs41295284 0.00015
NM_000314.8(PTEN):c.802-12T>C rs587781129 0.00015
NM_000540.3(RYR1):c.7902C>A (p.Asn2634Lys) rs148041292 0.00015
NM_001199138.2(NLRC4):c.928C>T (p.Arg310Ter) rs199475953 0.00015
NM_015443.4(KANSL1):c.2110T>C (p.Ser704Pro) rs202231419 0.00015
NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu) rs147394623 0.00015
NM_000059.4(BRCA2):c.4061C>T (p.Thr1354Met) rs80358656 0.00014
NM_000179.3(MSH6):c.884A>G (p.Lys295Arg) rs267608051 0.00014
NM_000249.4(MLH1):c.2001C>T (p.Asp667=) rs63750014 0.00014
NM_000303.3(PMM2):c.442G>A (p.Asp148Asn) rs148032587 0.00014
NM_001009999.3(KDM1A):c.283A>G (p.Thr95Ala) rs200773378 0.00014
NM_001164508.2(NEB):c.7342C>T (p.Arg2448Cys) rs576076237 0.00014
NM_001845.6(COL4A1):c.4845G>A (p.Glu1615=) rs142326550 0.00014
NM_004991.4(MECOM):c.2219C>T (p.Ser740Phe) rs201320721 0.00014
NM_006231.4(POLE):c.4237G>A (p.Glu1413Lys) rs372901803 0.00014
NM_007194.4(CHEK2):c.1489G>A (p.Asp497Asn) rs143965148 0.00014
NM_007294.4(BRCA1):c.1561G>A (p.Ala521Thr) rs80357122 0.00014
NM_015215.4(CAMTA1):c.2302T>C (p.Ser768Pro) rs201459076 0.00014
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile) rs34647222 0.00014
NM_133259.4(LRPPRC):c.2569A>G (p.Arg857Gly) rs200138144 0.00014
NM_170784.3(MKKS):c.1553G>A (p.Arg518His) rs149051148 0.00014
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr) rs45478699 0.00013
NM_000435.3(NOTCH3):c.6061G>A (p.Val2021Met) rs199620476 0.00013
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys) rs63750649 0.00013
NM_004656.4(BAP1):c.1735G>A (p.Gly579Arg) rs370004702 0.00013
NM_007294.4(BRCA1):c.1911T>C (p.Thr637=) rs62625305 0.00013
NM_017780.4(CHD7):c.3973T>C (p.Tyr1325His) rs377535841 0.00013
NM_024675.4(PALB2):c.48+7G>C rs190626072 0.00013
NM_000059.4(BRCA2):c.1889C>T (p.Thr630Ile) rs80358479 0.00012
NM_000179.3(MSH6):c.1081C>T (p.Arg361Cys) rs587782651 0.00012
NM_000249.4(MLH1):c.843A>C (p.Ala281=) rs146796765 0.00012
NM_001142864.4(PIEZO1):c.7099G>A (p.Glu2367Lys) rs552562531 0.00012
NM_001184880.2(PCDH19):c.1330A>G (p.Thr444Ala) rs201671718 0.00012
NM_001317778.2(SFTPC):c.445G>C (p.Ala149Pro) rs202145169 0.00012
NM_004360.5(CDH1):c.1409C>T (p.Thr470Ile) rs370864592 0.00012
NM_018263.6(ASXL2):c.13G>A (p.Gly5Arg) rs371056638 0.00012
NM_000038.6(APC):c.7621A>G (p.Ile2541Val) rs587778033 0.00011
NM_000053.4(ATP7B):c.3396C>T (p.Ser1132=) rs370947152 0.00011
NM_000059.4(BRCA2):c.6317T>C (p.Leu2106Pro) rs56172926 0.00011
NM_000059.4(BRCA2):c.943T>A (p.Cys315Ser) rs79483201 0.00011
NM_000094.4(COL7A1):c.4859G>A (p.Arg1620Gln) rs373682717 0.00011
NM_000251.3(MSH2):c.1461C>G (p.Asp487Glu) rs35107951 0.00011
NM_000393.5(COL5A2):c.1292A>G (p.Lys431Arg) rs144602736 0.00011
NM_000435.3(NOTCH3):c.6809C>T (p.Thr2270Met) rs148716935 0.00011
NM_000447.3(PSEN2):c.640G>T (p.Val214Leu) rs574125890 0.00011
NM_000455.5(STK11):c.825G>A (p.Pro275=) rs202011521 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_001205293.3(CACNA1E):c.1569G>A (p.Met523Ile) rs144517660 0.00011
NM_001378615.1(CC2D2A):c.3055C>T (p.Arg1019Ter) rs370880399 0.00011
NM_002485.5(NBN):c.1035C>T (p.Gly345=) rs146605798 0.00011
NM_004370.6(COL12A1):c.3652G>A (p.Val1218Met) rs201749138 0.00011
NM_004625.4(WNT7A):c.470G>A (p.Arg157His) rs199592697 0.00011
NM_004839.4(HOMER2):c.89A>G (p.Gln30Arg) rs189123186 0.00011
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300 0.00011
NM_020320.5(RARS2):c.1366C>T (p.Arg456Cys) rs147844153 0.00011
NM_022081.6(HPS4):c.922A>G (p.Thr308Ala) rs150057646 0.00011
NM_032119.4(ADGRV1):c.12919G>A (p.Gly4307Arg) rs190628299 0.00011
NM_152703.5(SAMD9L):c.208C>T (p.Arg70Cys) rs372301151 0.00011
NM_175053.4(KRT74):c.143G>A (p.Arg48Gln) rs759304994 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_000179.3(MSH6):c.3788G>A (p.Arg1263His) rs147852216 0.00010
NM_000264.5(PTCH1):c.324A>G (p.Ile108Met) rs144182921 0.00010
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr) rs114090343 0.00010
NM_000745.4(CHRNA5):c.713C>T (p.Pro238Leu) rs61742337 0.00010
NM_001267550.2(TTN):c.89018G>A (p.Arg29673Gln) rs200639218 0.00010
NM_003172.4(SURF1):c.563A>G (p.Asn188Ser) rs200702528 0.00010
NM_003280.3(TNNC1):c.210C>T (p.Gly70=) rs141505676 0.00010
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp) rs534723946 0.00010
NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter) rs376161880 0.00010
NM_152703.5(SAMD9L):c.2528G>A (p.Arg843Gln) rs200160724 0.00010
NM_201384.3(PLEC):c.2416C>T (p.Arg806Cys) rs372400636 0.00010
NM_000051.4(ATM):c.4167A>G (p.Thr1389=) rs183214437 0.00009
NM_000059.4(BRCA2):c.2233A>G (p.Lys745Glu) rs374691587 0.00009
NM_000059.4(BRCA2):c.4314C>T (p.Val1438=) rs730881590 0.00009
NM_000059.4(BRCA2):c.5455C>T (p.Pro1819Ser) rs80358768 0.00009
NM_000059.4(BRCA2):c.7601C>T (p.Ala2534Val) rs74047012 0.00009
NM_000124.4(ERCC6):c.879A>T (p.Arg293Ser) rs563356062 0.00009
NM_000222.3(KIT):c.1694G>T (p.Gly565Val) rs200945282 0.00009
NM_000251.3(MSH2):c.2802G>A (p.Thr934=) rs150259097 0.00009
NM_000455.5(STK11):c.735-9G>A rs201899557 0.00009
NM_000492.4(CFTR):c.2657+2_2657+3insA rs397508414 0.00009
NM_001164508.2(NEB):c.13204A>G (p.Ser4402Gly) rs1475846023 0.00009
NM_001267550.2(TTN):c.72802C>T (p.Arg24268Cys) rs370474301 0.00009
NM_001378183.1(PIEZO2):c.1006G>A (p.Ala336Thr) rs368601054 0.00009
NM_001845.6(COL4A1):c.2285T>C (p.Val762Ala) rs374930028 0.00009
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val) rs202003805 0.00009
NM_006734.4(HIVEP2):c.4832T>A (p.Met1611Lys) rs201466143 0.00009
NM_007118.4(TRIO):c.8824C>G (p.Gln2942Glu) rs377248579 0.00009
NM_007294.4(BRCA1):c.2352G>A (p.Ser784=) rs372017932 0.00009
NM_015909.4(NBAS):c.1438T>C (p.Ser480Pro) rs140555177 0.00009
NM_024675.4(PALB2):c.12T>C (p.Pro4=) rs567706422 0.00009
NM_133259.4(LRPPRC):c.2210+4A>C rs190007694 0.00009
NM_182760.4(SUMF1):c.463T>C (p.Ser155Pro) rs137852850 0.00009
NM_000051.4(ATM):c.2466+7A>G rs55812024 0.00008
NM_000059.4(BRCA2):c.506A>G (p.Lys169Arg) rs80358730 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.9501+3A>T rs61757642 0.00008
NM_000251.3(MSH2):c.1488A>G (p.Leu496=) rs267607960 0.00008
NM_000251.3(MSH2):c.1662-10C>T rs752606387 0.00008
NM_001134407.3(GRIN2A):c.4353A>T (p.Arg1451Ser) rs143693526 0.00008
NM_001278116.2(L1CAM):c.3710C>T (p.Ala1237Val) rs370546591 0.00008
NM_001375524.1(TRRAP):c.6872G>A (p.Ser2291Asn) rs199827128 0.00008
NM_006946.4(SPTBN2):c.5383C>G (p.Gln1795Glu) rs144465703 0.00008
NM_007294.4(BRCA1):c.4644G>A (p.Thr1548=) rs28897692 0.00008
NM_012203.2(GRHPR):c.690C>A (p.Phe230Leu) rs185747820 0.00008
NM_194248.3(OTOF):c.5623G>A (p.Val1875Met) rs370691004 0.00008
NM_000123.4(ERCC5):c.48G>A (p.Gln16=) rs202038276 0.00007
NM_000249.4(MLH1):c.1379A>C (p.Glu460Ala) rs202038499 0.00007
NM_000249.4(MLH1):c.277A>G (p.Ser93Gly) rs41295282 0.00007
NM_000535.7(PMS2):c.1280G>A (p.Arg427His) rs112902065 0.00007
NM_000535.7(PMS2):c.230A>C (p.Glu77Ala) rs777095030 0.00007
NM_001110792.2(MECP2):c.1096C>T (p.Arg366Cys) rs143876280 0.00007
NM_002272.4(KRT4):c.364C>G (p.Leu122Val) rs758695571 0.00007
NM_004281.4(BAG3):c.892G>A (p.Val298Met) rs150048651 0.00007
NM_004360.5(CDH1):c.1297G>A (p.Asp433Asn) rs199886166 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_017617.5(NOTCH1):c.3853G>A (p.Val1285Met) rs756972680 0.00007
NM_024675.4(PALB2):c.2100A>T (p.Ser700=) rs757145884 0.00007
NM_032119.4(ADGRV1):c.9466A>G (p.Ile3156Val) rs372484022 0.00007
NM_032383.5(HPS3):c.1773G>A (p.Thr591=) rs559550536 0.00007
NM_177438.3(DICER1):c.5276A>G (p.Lys1759Arg) rs144259142 0.00007
NM_000038.6(APC):c.3632T>G (p.Met1211Arg) rs575268622 0.00006
NM_000038.6(APC):c.4072G>A (p.Ala1358Thr) rs139618756 0.00006
NM_000038.6(APC):c.5140G>A (p.Asp1714Asn) rs148275069 0.00006
NM_000038.6(APC):c.8107A>G (p.Lys2703Glu) rs730881270 0.00006
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) rs28904921 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.4578A>G (p.Thr1526=) rs202022822 0.00006
NM_000059.4(BRCA2):c.4828G>A (p.Val1610Met) rs80358705 0.00006
NM_000059.4(BRCA2):c.7057G>C (p.Gly2353Arg) rs80358935 0.00006
NM_000249.4(MLH1):c.2174G>A (p.Arg725His) rs566928243 0.00006
NM_000251.3(MSH2):c.499G>C (p.Asp167His) rs63750255 0.00006
NM_000359.3(TGM1):c.376C>T (p.Arg126Cys) rs397514524 0.00006
NM_000435.3(NOTCH3):c.2000G>A (p.Gly667Asp) rs370386680 0.00006
NM_000455.5(STK11):c.1257C>T (p.Ser419=) rs375328708 0.00006
NM_000455.5(STK11):c.921-10G>A rs183406870 0.00006
NM_000535.7(PMS2):c.1145-10G>A rs533551639 0.00006
NM_001048174.2(MUTYH):c.1156C>T (p.Gln386Ter) rs766420907 0.00006
NM_001849.4(COL6A2):c.188C>T (p.Thr63Met) rs201094892 0.00006
NM_001854.4(COL11A1):c.3136G>A (p.Gly1046Arg) rs760387652 0.00006
NM_002439.5(MSH3):c.169G>C (p.Ala57Pro) rs144776112 0.00006
NM_002878.4(RAD51D):c.715C>T (p.Arg239Trp) rs770250516 0.00006
NM_004360.5(CDH1):c.214G>A (p.Asp72Asn) rs35606263 0.00006
NM_004360.5(CDH1):c.2637C>T (p.Gly879=) rs141001592 0.00006
NM_004385.5(VCAN):c.2618T>G (p.Ile873Arg) rs150395515 0.00006
NM_004655.4(AXIN2):c.623C>T (p.Ala208Val) rs201531372 0.00006
NM_007294.4(BRCA1):c.1617G>A (p.Thr539=) rs372002119 0.00006
NM_007294.4(BRCA1):c.2412G>C (p.Gln804His) rs55746541 0.00006
NM_007294.4(BRCA1):c.2428A>T (p.Asn810Tyr) rs28897682 0.00006
NM_007294.4(BRCA1):c.3739G>A (p.Val1247Ile) rs80357191 0.00006
NM_007294.4(BRCA1):c.4213A>G (p.Ile1405Val) rs80357353 0.00006
NM_024411.5(PDYN):c.268G>A (p.Gly90Arg) rs201585283 0.00006
NM_032043.3(BRIP1):c.918+1G>A rs587781655 0.00006
NM_212482.4(FN1):c.3289G>A (p.Glu1097Lys) rs753807100 0.00006
NM_000038.6(APC):c.7986G>A (p.Glu2662=) rs571645304 0.00005
NM_000059.4(BRCA2):c.2550A>G (p.Gln850=) rs80359785 0.00005
NM_000059.4(BRCA2):c.426-37T>A rs81002859 0.00005
NM_000179.3(MSH6):c.2173A>G (p.Ile725Val) rs148898662 0.00005
NM_000179.3(MSH6):c.3399T>C (p.Thr1133=) rs61748084 0.00005
NM_000179.3(MSH6):c.3762A>T (p.Glu1254Asp) rs375459388 0.00005
NM_000179.3(MSH6):c.3852G>A (p.Thr1284=) rs2229018 0.00005
NM_000249.4(MLH1):c.1128T>C (p.Asp376=) rs267607824 0.00005
NM_000249.4(MLH1):c.1153C>T (p.Arg385Cys) rs63750760 0.00005
NM_000388.4(CASR):c.779A>G (p.Gln260Arg) rs200386687 0.00005
NM_000447.3(PSEN2):c.208G>A (p.Gly70Arg) rs139972151 0.00005
NM_000455.5(STK11):c.920+6C>T rs730881964 0.00005
NM_001042492.3(NF1):c.1588G>A (p.Val530Ile) rs145191978 0.00005
NM_001267550.2(TTN):c.64903C>T (p.Arg21635Cys) rs201614524 0.00005
NM_001371623.1(TCOF1):c.3628C>T (p.Pro1210Ser) rs558530968 0.00005
NM_003265.3(TLR3):c.1585C>T (p.Leu529Phe) rs201222071 0.00005
NM_006734.4(HIVEP2):c.5846A>G (p.Asn1949Ser) rs376423805 0.00005
NM_007294.4(BRCA1):c.1974G>C (p.Met658Ile) rs55678461 0.00005
NM_007294.4(BRCA1):c.2634A>G (p.Ala878=) rs730881451 0.00005
NM_007294.4(BRCA1):c.301+55G>A rs868735744 0.00005
NM_015559.3(SETBP1):c.1202G>A (p.Arg401Gln) rs144407969 0.00005
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr) rs200511261 0.00005
NM_144997.7(FLCN):c.1387T>C (p.Tyr463His) rs770077517 0.00005
NM_000038.6(APC):c.1549-13A>T rs587781267 0.00004
NM_000038.6(APC):c.317G>A (p.Arg106His) rs201764637 0.00004
NM_000038.6(APC):c.8325G>A (p.Gly2775=) rs770719841 0.00004
NM_000051.4(ATM):c.1953A>G (p.Leu651=) rs730881283 0.00004
NM_000051.4(ATM):c.7592T>C (p.Met2531Thr) rs587781365 0.00004
NM_000059.4(BRCA2):c.10222A>T (p.Lys3408Ter) rs80358402 0.00004
NM_000059.4(BRCA2):c.267G>A (p.Pro89=) rs587780648 0.00004
NM_000059.4(BRCA2):c.280C>T (p.Pro94Ser) rs80358531 0.00004
NM_000059.4(BRCA2):c.5752C>T (p.His1918Tyr) rs80358803 0.00004
NM_000059.4(BRCA2):c.5869A>G (p.Ile1957Val) rs80358817 0.00004
NM_000142.5(FGFR3):c.940G>A (p.Ala314Thr) rs748488719 0.00004
NM_000179.3(MSH6):c.2418C>T (p.Ser806=) rs770992427 0.00004
NM_000179.3(MSH6):c.3801+5G>A rs201080919 0.00004
NM_000179.3(MSH6):c.4004A>C (p.Glu1335Ala) rs564434147 0.00004
NM_000249.4(MLH1):c.1565G>A (p.Arg522Gln) rs63751630 0.00004
NM_000249.4(MLH1):c.579A>G (p.Ser193=) rs587781038 0.00004
NM_000249.4(MLH1):c.794G>A (p.Arg265His) rs63751448 0.00004
NM_000455.5(STK11):c.723T>C (p.Ala241=) rs533550278 0.00004
NM_000478.6(ALPL):c.1363G>A (p.Gly455Ser) rs149889416 0.00004
NM_000521.4(HEXB):c.1510C>T (p.Pro504Ser) rs121907985 0.00004
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met) rs576055272 0.00004
NM_001039141.3(TRIOBP):c.7010G>A (p.Arg2337Gln) rs200850285 0.00004
NM_001042492.3(NF1):c.3484A>G (p.Met1162Val) rs773968270 0.00004
NM_001048174.2(MUTYH):c.87C>T (p.Asn29=) rs141679570 0.00004
NM_001085487.3(MYSM1):c.2296C>T (p.Arg766Cys) rs141454457 0.00004
NM_001170629.2(CHD8):c.5608G>A (p.Asp1870Asn) rs376095447 0.00004
NM_001297.5(CNGB1):c.3560G>A (p.Arg1187Gln) rs543712958 0.00004
NM_001457.4(FLNB):c.3767G>A (p.Arg1256Gln) rs148506076 0.00004
NM_002878.4(RAD51D):c.145-13G>T rs760867838 0.00004
NM_003722.5(TP63):c.688G>C (p.Val230Leu) rs201466089 0.00004
NM_004360.5(CDH1):c.2165-15C>A rs552874184 0.00004
NM_004366.6(CLCN2):c.1958G>C (p.Arg653Thr) rs568335048 0.00004
NM_004614.5(TK2):c.103C>T (p.Gln35Ter) rs886041321 0.00004
NM_004974.4(KCNA2):c.972C>T (p.Ser324=) rs765820644 0.00004
NM_007294.4(BRCA1):c.4357+17A>G rs80358180 0.00004
NM_007294.4(BRCA1):c.4676-8C>G rs80358021 0.00004
NM_015046.7(SETX):c.6122T>C (p.Ile2041Thr) rs140676924 0.00004
NM_022114.4(PRDM16):c.171C>T (p.Ser57=) rs369648897 0.00004
NM_173076.3(ABCA12):c.4873A>G (p.Thr1625Ala) rs553840038 0.00004
NM_206933.4(USH2A):c.5698T>G (p.Cys1900Gly) rs201026468 0.00004
NM_207361.6(FREM2):c.8509C>T (p.Pro2837Ser) rs766715445 0.00004
NM_000038.6(APC):c.1557A>G (p.Leu519=) rs765537673 0.00003
NM_000038.6(APC):c.3529A>G (p.Ile1177Val) rs369834416 0.00003
NM_000038.6(APC):c.5635G>T (p.Ala1879Ser) rs587779799 0.00003
NM_000038.6(APC):c.6945A>G (p.Gln2315=) rs786201348 0.00003
NM_000051.4(ATM):c.6234C>T (p.Ser2078=) rs569483748 0.00003
NM_000059.4(BRCA2):c.3581G>A (p.Gly1194Asp) rs28897721 0.00003
NM_000059.4(BRCA2):c.3682A>G (p.Asn1228Asp) rs28897722 0.00003
NM_000059.4(BRCA2):c.4269T>C (p.Thr1423=) rs786201377 0.00003
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs) rs11571658 0.00003
NM_000059.4(BRCA2):c.627C>T (p.Leu209=) rs28897704 0.00003
NM_000059.4(BRCA2):c.6935A>T (p.Asp2312Val) rs80358916 0.00003
NM_000059.4(BRCA2):c.8010G>A (p.Ser2670=) rs146430937 0.00003
NM_000059.4(BRCA2):c.8917C>T (p.Arg2973Cys) rs45469092 0.00003
NM_000059.4(BRCA2):c.9235del (p.Val3079fs) rs397507422 0.00003
NM_000059.4(BRCA2):c.9253A>C (p.Thr3085Pro) rs397507423 0.00003
NM_000059.4(BRCA2):c.9256+28T>A rs779846458 0.00003
NM_000112.4(SLC26A2):c.172C>T (p.Arg58Cys) rs369318758 0.00003
NM_000152.5(GAA):c.546G>A (p.Thr182=) rs143523371 0.00003
NM_000179.3(MSH6):c.1822A>G (p.Ile608Val) rs201613780 0.00003
NM_000179.3(MSH6):c.3173-10C>T rs587780559 0.00003
NM_000249.4(MLH1):c.1730C>T (p.Ser577Leu) rs56185292 0.00003
NM_000251.3(MSH2):c.211+8C>T rs267607916 0.00003
NM_000251.3(MSH2):c.2205C>T (p.Ile735=) rs533553381 0.00003
NM_000251.3(MSH2):c.835C>G (p.Leu279Val) rs375351205 0.00003
NM_000384.3(APOB):c.571A>G (p.Thr191Ala) rs1318040190 0.00003
NM_000455.5(STK11):c.464+10C>T rs587782445 0.00003
NM_000455.5(STK11):c.615G>A (p.Ala205=) rs532889728 0.00003
NM_000535.7(PMS2):c.2288A>G (p.Glu763Gly) rs587780052 0.00003
NM_000535.7(PMS2):c.2521del (p.Trp841fs) rs886039646 0.00003
NM_001009944.3(PKD1):c.3605C>T (p.Ala1202Val) rs767834829 0.00003
NM_001127453.2(GSDME):c.611A>T (p.Asp204Val) rs376564087 0.00003
NM_001267550.2(TTN):c.15659A>G (p.Asn5220Ser) rs565670799 0.00003
NM_001267550.2(TTN):c.41406C>T (p.Cys13802=) rs749356221 0.00003
NM_001267550.2(TTN):c.92750T>C (p.Val30917Ala) rs748545482 0.00003
NM_001273.5(CHD4):c.371A>G (p.Lys124Arg) rs371268726 0.00003
NM_001386795.1(DTNA):c.1838C>T (p.Pro613Leu) rs145425478 0.00003
NM_001394062.1(MACF1):c.21575G>A (p.Arg7192Gln) rs752117651 0.00003
NM_002878.4(RAD51D):c.556C>T (p.Arg186Ter) rs387906843 0.00003
NM_003480.4(MFAP5):c.157G>A (p.Ala53Thr) rs576618912 0.00003
NM_003737.4(DCHS1):c.6988C>T (p.Arg2330Cys) rs768737101 0.00003
NM_003999.3(OSMR):c.2538T>A (p.Asn846Lys) rs771864692 0.00003
NM_004360.5(CDH1):c.1417G>A (p.Val473Ile) rs36087757 0.00003
NM_007294.4(BRCA1):c.1573G>A (p.Val525Ile) rs80357273 0.00003
NM_007294.4(BRCA1):c.2447A>G (p.His816Arg) rs80357108 0.00003
NM_007294.4(BRCA1):c.671-8A>G rs80358144 0.00003
NM_015559.3(SETBP1):c.1037C>T (p.Thr346Ile) rs557430935 0.00003
NM_016239.4(MYO15A):c.9913G>A (p.Glu3305Lys) rs535441567 0.00003
NM_022124.6(CDH23):c.9565C>T (p.Arg3189Trp) rs121908353 0.00003
NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser) rs387906980 0.00003
NM_032043.3(BRIP1):c.2324A>G (p.Asn775Ser) rs571108955 0.00003
NM_032043.3(BRIP1):c.728T>C (p.Ile243Thr) rs587781860 0.00003
NM_052867.4(NALCN):c.2495A>G (p.Tyr832Cys) rs549182297 0.00003
NM_170784.3(MKKS):c.862G>A (p.Val288Ile) rs113032343 0.00003
NM_194248.3(OTOF):c.40C>T (p.Arg14Trp) rs774530840 0.00003
NM_000038.6(APC):c.5225G>A (p.Arg1742His) rs199775075 0.00002
NM_000038.6(APC):c.5363G>A (p.Arg1788His) rs201472075 0.00002
NM_000038.6(APC):c.7821C>T (p.Ser2607=) rs532235331 0.00002
NM_000051.4(ATM):c.2085G>A (p.Leu695=) rs786202229 0.00002
NM_000051.4(ATM):c.2124+14A>G rs772719886 0.00002
NM_000051.4(ATM):c.3285-15C>T rs770928986 0.00002
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr) rs148064985 0.00002
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys) rs587782292 0.00002
NM_000059.4(BRCA2):c.10202C>T (p.Thr3401Met) rs55853199 0.00002
NM_000059.4(BRCA2):c.2716A>G (p.Thr906Ala) rs80358528 0.00002
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785 0.00002
NM_000059.4(BRCA2):c.5813G>C (p.Gly1938Ala) rs41293499 0.00002
NM_000059.4(BRCA2):c.794-11T>C rs81002822 0.00002
NM_000059.4(BRCA2):c.9270C>T (p.Phe3090=) rs587780873 0.00002
NM_000249.4(MLH1):c.303T>G (p.Gly101=) rs4647220 0.00002
NM_000314.8(PTEN):c.411A>G (p.Ala137=) rs144545031 0.00002
NM_000455.5(STK11):c.735C>G (p.Leu245=) rs773147894 0.00002
NM_000535.7(PMS2):c.1629C>T (p.Asp543=) rs111673299 0.00002
NM_000535.7(PMS2):c.2264T>C (p.Ile755Thr) rs386833410 0.00002
NM_000548.5(TSC2):c.3818C>T (p.Ala1273Val) rs749367382 0.00002
NM_001008537.3(NEXMIF):c.1883G>A (p.Arg628Gln) rs747436946 0.00002
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys) rs747993448 0.00002
NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp) rs34126013 0.00002
NM_001048174.2(MUTYH):c.649C>T (p.Arg217Cys) rs200495564 0.00002
NM_001048174.2(MUTYH):c.655C>T (p.Arg219Ter) rs587782885 0.00002
NM_001365276.2(TNXB):c.7774G>A (p.Gly2592Ser) rs767643312 0.00002
NM_001371928.1(AHDC1):c.1675G>A (p.Gly559Ser) rs765994795 0.00002
NM_002485.5(NBN):c.104T>C (p.Ile35Thr) rs587780773 0.00002
NM_002878.4(RAD51D):c.363del (p.Ala122fs) rs730881935 0.00002
NM_003361.4(UMOD):c.758G>A (p.Gly253Asp) rs760253448 0.00002
NM_004360.5(CDH1):c.1273G>A (p.Val425Ile) rs570930882 0.00002
NM_004360.5(CDH1):c.188G>A (p.Arg63Gln) rs587780117 0.00002
NM_007194.4(CHEK2):c.*5C>T rs587781367 0.00002
NM_007294.4(BRCA1):c.2006T>C (p.Met669Thr) rs80356895 0.00002
NM_007294.4(BRCA1):c.2525A>G (p.Glu842Gly) rs28897684 0.00002
NM_007294.4(BRCA1):c.2662C>T (p.His888Tyr) rs80357480 0.00002
NM_007294.4(BRCA1):c.3636A>G (p.Ser1212=) rs148038877 0.00002
NM_007294.4(BRCA1):c.3657G>C (p.Glu1219Asp) rs80356876 0.00002
NM_007294.4(BRCA1):c.4993G>A (p.Val1665Met) rs80357169 0.00002
NM_007294.4(BRCA1):c.5074+6C>G rs80358032 0.00002
NM_007294.4(BRCA1):c.5576C>G (p.Pro1859Arg) rs80357322 0.00002
NM_015559.3(SETBP1):c.2117A>G (p.Glu706Gly) rs530739140 0.00002
NM_017882.3(CLN6):c.49G>A (p.Gly17Ser) rs763944821 0.00002
NM_032043.3(BRIP1):c.1433A>G (p.His478Arg) rs45501097 0.00002
NM_032043.3(BRIP1):c.2406C>T (p.Asp802=) rs748981650 0.00002
NM_032043.3(BRIP1):c.924A>G (p.Lys308=) rs374974885 0.00002
NM_058216.3(RAD51C):c.706-2A>G rs587780259 0.00002
NM_170601.5(SIAE):c.886C>T (p.Leu296Phe) rs200609324 0.00002
NM_177438.3(DICER1):c.4199A>G (p.Asp1400Gly) rs139536688 0.00002
NM_178857.6(RP1L1):c.434G>A (p.Arg145Gln) rs373569904 0.00002
NM_000038.6(APC):c.1596A>G (p.Gln532=) rs1331131200 0.00001
NM_000038.6(APC):c.3378C>G (p.Ser1126Arg) rs149353082 0.00001
NM_000038.6(APC):c.5304G>A (p.Lys1768=) rs863224285 0.00001
NM_000051.4(ATM):c.2630G>C (p.Ser877Thr) rs370269552 0.00001
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys) rs564652222 0.00001
NM_000051.4(ATM):c.7502A>G (p.Asn2501Ser) rs531617441 0.00001
NM_000051.4(ATM):c.876G>A (p.Pro292=) rs755860432 0.00001
NM_000059.4(BRCA2):c.1244A>G (p.His415Arg) rs80358417 0.00001
NM_000059.4(BRCA2):c.1466C>G (p.Ser489Cys) rs587782535 0.00001
NM_000059.4(BRCA2):c.2751A>G (p.Val917=) rs765644162 0.00001
NM_000059.4(BRCA2):c.3672C>T (p.Gly1224=) rs587780650 0.00001
NM_000059.4(BRCA2):c.3785C>G (p.Ser1262Ter) rs80358620 0.00001
NM_000059.4(BRCA2):c.4436G>C (p.Ser1479Thr) rs80358678 0.00001
NM_000059.4(BRCA2):c.5344C>A (p.Gln1782Lys) rs80358757 0.00001
NM_000059.4(BRCA2):c.5390C>G (p.Ala1797Gly) rs80358760 0.00001
NM_000059.4(BRCA2):c.5729A>T (p.Asn1910Ile) rs276174863 0.00001
NM_000059.4(BRCA2):c.5745G>A (p.Thr1915=) rs1799953 0.00001
NM_000059.4(BRCA2):c.6458C>T (p.Pro2153Leu) rs276174873 0.00001
NM_000059.4(BRCA2):c.7232A>C (p.Lys2411Thr) rs80358950 0.00001
NM_000059.4(BRCA2):c.7436-4A>G rs81002904 0.00001
NM_000059.4(BRCA2):c.7448G>A (p.Ser2483Asn) rs80358967 0.00001
NM_000059.4(BRCA2):c.7463G>A (p.Arg2488Lys) rs80358968 0.00001
NM_000059.4(BRCA2):c.7521A>G (p.Pro2507=) rs759383358 0.00001
NM_000059.4(BRCA2):c.7759C>T (p.Leu2587Phe) rs56335340 0.00001
NM_000059.4(BRCA2):c.7928C>G (p.Ala2643Gly) rs80359018 0.00001
NM_000059.4(BRCA2):c.8014A>G (p.Ile2672Val) rs80359037 0.00001
NM_000059.4(BRCA2):c.8243G>A (p.Gly2748Asp) rs80359071 0.00001
NM_000059.4(BRCA2):c.9076C>G (p.Gln3026Glu) rs80359159 0.00001
NM_000059.4(BRCA2):c.927A>G (p.Ser309=) rs80359806 0.00001
NM_000059.4(BRCA2):c.9433G>C (p.Val3145Leu) rs587776476 0.00001
NM_000094.4(COL7A1):c.3727C>T (p.Arg1243Trp) rs1189017197 0.00001
NM_000094.4(COL7A1):c.5096C>T (p.Pro1699Leu) rs121912845 0.00001
NM_000094.4(COL7A1):c.631G>A (p.Val211Ile) rs557797952 0.00001
NM_000179.3(MSH6):c.2057G>A (p.Gly686Asp) rs587779227 0.00001
NM_000179.3(MSH6):c.3198T>C (p.Tyr1066=) rs199643502 0.00001
NM_000249.4(MLH1):c.1103C>T (p.Ser368Leu) rs201673334 0.00001
NM_000249.4(MLH1):c.1401C>T (p.Ser467=) rs587778910 0.00001
NM_000249.4(MLH1):c.1460G>A (p.Arg487Gln) rs587778917 0.00001
NM_000249.4(MLH1):c.207+1G>A rs267607718 0.00001
NM_000249.4(MLH1):c.30G>T (p.Arg10=) rs876660759 0.00001
NM_000277.3(PAH):c.653G>T (p.Gly218Val) rs62514933 0.00001
NM_000368.5(TSC1):c.1097C>T (p.Pro366Leu) rs763915012 0.00001
NM_000396.4(CTSK):c.8G>A (p.Gly3Glu) rs202055627 0.00001
NM_000430.4(PAFAH1B1):c.1130A>G (p.Asn377Ser) rs1167470350 0.00001
NM_000448.3(RAG1):c.2291G>A (p.Arg764His) rs768809293 0.00001
NM_000535.7(PMS2):c.2265C>T (p.Ile755=) rs145646046 0.00001
NM_000543.5(SMPD1):c.83C>T (p.Pro28Leu) rs556155962 0.00001
NM_000546.6(TP53):c.472C>T (p.Arg158Cys) rs587780068 0.00001
NM_001009944.3(PKD1):c.4014C>T (p.Thr1338=) rs577199866 0.00001
NM_001048174.2(MUTYH):c.1102+1G>A rs587781337 0.00001
NM_001048174.2(MUTYH):c.464G>A (p.Gly155Asp) rs587781864 0.00001
NM_001048174.2(MUTYH):c.559G>A (p.Val187Met) rs776487884 0.00001
NM_001079866.2(BCS1L):c.349C>T (p.Arg117Ter) rs777735526 0.00001
NM_001098.3(ACO2):c.1550C>T (p.Thr517Met) rs540169523 0.00001
NM_001142864.4(PIEZO1):c.645C>G (p.His215Gln) rs559847737 0.00001
NM_001365276.2(TNXB):c.3034G>A (p.Val1012Ile) rs751045102 0.00001
NM_001374353.1(GLI2):c.2657C>G (p.Thr886Ser) rs572826436 0.00001
NM_001378609.3(OTOGL):c.3277A>C (p.Asn1093His) rs867315415 0.00001
NM_002447.4(MST1R):c.2464C>G (p.Gln822Glu) rs375573917 0.00001
NM_002473.6(MYH9):c.4391G>A (p.Arg1464His) rs199968414 0.00001
NM_002485.5(NBN):c.1238A>G (p.Asn413Ser) rs529340553 0.00001
NM_002637.4(PHKA1):c.3043C>T (p.Arg1015Cys) rs782191011 0.00001
NM_002691.4(POLD1):c.2327G>A (p.Arg776Gln) rs141801845 0.00001
NM_002878.4(RAD51D):c.144+3G>T rs761057565 0.00001
NM_004304.5(ALK):c.140C>T (p.Ser47Leu) rs541315214 0.00001
NM_004357.5(CD151):c.379A>C (p.Lys127Gln) rs559057238 0.00001
NM_004360.5(CDH1):c.604G>A (p.Val202Ile) rs546716073 0.00001
NM_004360.5(CDH1):c.879G>A (p.Val293=) rs778959722 0.00001
NM_004519.4(KCNQ3):c.35C>T (p.Ala12Val) rs796052672 0.00001
NM_004958.4(MTOR):c.5473A>G (p.Ile1825Val) rs748927495 0.00001
NM_004985.5(KRAS):c.34G>A (p.Gly12Ser) rs121913530 0.00001
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529 0.00001
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) rs112445441 0.00001
NM_005670.4(EPM2A):c.822C>T (p.Thr274=) rs763812238 0.00001
NM_005908.4(MANBA):c.1622G>A (p.Trp541Ter) rs771865668 0.00001
NM_006767.4(LZTR1):c.2407-2A>G rs1158550690 0.00001
NM_007194.4(CHEK2):c.1593G>A (p.Glu531=) rs758555487 0.00001
NM_007294.4(BRCA1):c.1081T>C (p.Ser361Pro) rs80356946 0.00001
NM_007294.4(BRCA1):c.1227A>G (p.Val409=) rs149349675 0.00001
NM_007294.4(BRCA1):c.1396C>T (p.Arg466Trp) rs80356964 0.00001
NM_007294.4(BRCA1):c.212+4T>C rs398122652 0.00001
NM_007294.4(BRCA1):c.2580A>G (p.Thr860=) rs556684572 0.00001
NM_007294.4(BRCA1):c.2597G>A (p.Arg866His) rs80356911 0.00001
NM_007294.4(BRCA1):c.3327A>C (p.Lys1109Asn) rs41293449 0.00001
NM_007294.4(BRCA1):c.3448C>T (p.Pro1150Ser) rs80357272 0.00001
NM_007294.4(BRCA1):c.3541G>A (p.Val1181Ile) rs56336919 0.00001
NM_007294.4(BRCA1):c.3596C>T (p.Ala1199Val) rs587782458 0.00001
NM_007294.4(BRCA1):c.3707A>G (p.Asn1236Ser) rs863224760 0.00001
NM_007294.4(BRCA1):c.378A>G (p.Gln126=) rs786201256 0.00001
NM_007294.4(BRCA1):c.4115G>A (p.Cys1372Tyr) rs55848034 0.00001
NM_007294.4(BRCA1):c.4422T>C (p.Ala1474=) rs756281673 0.00001
NM_007294.4(BRCA1):c.4485-8C>T rs397507234 0.00001
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter) rs80357433 0.00001
NM_007294.4(BRCA1):c.4816A>G (p.Lys1606Glu) rs80356943 0.00001
NM_007294.4(BRCA1):c.508C>T (p.Arg170Trp) rs80357325 0.00001
NM_007294.4(BRCA1):c.81-17C>G rs757442952 0.00001
NM_014727.3(KMT2B):c.4199G>A (p.Arg1400His) rs371324331 0.00001
NM_024407.5(NDUFS7):c.47G>A (p.Gly16Asp) rs552179138 0.00001
NM_024675.4(PALB2):c.1110G>A (p.Gln370=) rs756002989 0.00001
NM_058216.3(RAD51C):c.571+4A>G rs587780257 0.00001
NM_058216.3(RAD51C):c.904+5G>T rs587782702 0.00001
NM_139027.6(ADAMTS13):c.3284G>A (p.Arg1095Gln) rs373569027 0.00001
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter) rs751356206 0.00001
NM_152703.5(SAMD9L):c.4394G>A (p.Arg1465His) rs190393069 0.00001
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe) rs41315579 0.00001
NM_206933.4(USH2A):c.8845+2T>G rs1441350225 0.00001
NC_000002.12:g.(?_47482779)_(47482949_?)del
NM_000033.4(ABCD1):c.1823G>A (p.Gly608Asp) rs78993751
NM_000038.6(APC):c.1690C>T (p.Arg564Ter) rs137854574
NM_000038.6(APC):c.2395dup (p.Tyr799fs) rs879254110
NM_000038.6(APC):c.2547_2550del (p.Asp849fs) rs398123118
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter) rs137854575
NM_000038.6(APC):c.2995C>T (p.Gln999Ter) rs75239284
NM_000038.6(APC):c.3147G>A (p.Trp1049Ter) rs863225340
NM_000038.6(APC):c.4212C>T (p.Ser1404=) rs144655979
NM_000038.6(APC):c.423-1G>A rs397514031
NM_000038.6(APC):c.423-3T>A rs587782293
NM_000038.6(APC):c.423-4del rs730881230
NM_000038.6(APC):c.4645C>T (p.Gln1549Ter) rs863225357
NM_000038.6(APC):c.487C>T (p.Gln163Ter) rs863225362
NM_000038.6(APC):c.5250C>T (p.Val1750=) rs2229997
NM_000038.6(APC):c.532-14_532-12del rs765893314
NM_000038.6(APC):c.5496T>C (p.Asp1832=) rs1561600562
NM_000038.6(APC):c.562C>T (p.Gln188Ter) rs869312753
NM_000038.6(APC):c.6354TGC[5] (p.Ala2122dup) rs587780602
NM_000038.6(APC):c.645+1G>A rs863225370
NM_000038.6(APC):c.6907G>A (p.Gly2303Arg) rs544549596
NM_000038.6(APC):c.841A>G (p.Thr281Ala) rs769727966
NM_000038.6(APC):c.904C>T (p.Arg302Ter) rs137854568
NM_000044.6(AR):c.171GCA[24] (p.Gln80dup) rs3032358
NM_000044.6(AR):c.171GCA[28] (p.Gln76_Gln80dup) rs3032358
NM_000051.4(ATM):c.186A>G (p.Arg62=) rs876658224
NM_000051.4(ATM):c.2839-4T>C rs1057522619
NM_000051.4(ATM):c.6095+6T>C rs1057522992
NM_000051.4(ATM):c.8644_8647del (p.Ser2882fs) rs2137083265
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter) rs770641163
NM_000053.4(ATP7B):c.-123_-119dupCGCCG rs148013251
NM_000059.4(BRCA2):c.10095delinsGAATTATATCT (p.Ser3366fs) rs276174803
NM_000059.4(BRCA2):c.10220A>G (p.Asn3407Ser) rs80358401
NM_000059.4(BRCA2):c.1460C>A (p.Ala487Glu) rs56390402
NM_000059.4(BRCA2):c.1462A>C (p.Ile488Leu) rs864622352
NM_000059.4(BRCA2):c.1773_1776del (p.Ile591fs) rs80359304
NM_000059.4(BRCA2):c.1964del (p.Pro655fs) rs1555282375
NM_000059.4(BRCA2):c.2095C>T (p.Gln699Ter) rs878853559
NM_000059.4(BRCA2):c.2786del (p.Leu929fs) rs80359347
NM_000059.4(BRCA2):c.2870del (p.Asn957fs) rs397507645
NM_000059.4(BRCA2):c.314T>G (p.Leu105Ter) rs80358561
NM_000059.4(BRCA2):c.3578C>T (p.Ala1193Val) rs431825310
NM_000059.4(BRCA2):c.3785C>A (p.Ser1262Ter) rs80358620
NM_000059.4(BRCA2):c.3873del (p.Gln1291fs) rs398122772
NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000059.4(BRCA2):c.4405_4409del (p.Asp1469fs) rs397507331
NM_000059.4(BRCA2):c.455C>A (p.Thr152Lys) rs80358691
NM_000059.4(BRCA2):c.4620C>T (p.Asp1540=) rs1555283875
NM_000059.4(BRCA2):c.469_470del (p.Lys157fs) rs397507739
NM_000059.4(BRCA2):c.5095G>A (p.Asp1699Asn) rs80358731
NM_000059.4(BRCA2):c.5159C>A (p.Ser1720Ter) rs80358740
NM_000059.4(BRCA2):c.516+14del rs1336445194
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs) rs80359525
NM_000059.4(BRCA2):c.5723_5724del (p.Leu1908fs) rs886040608
NM_000059.4(BRCA2):c.5851_5854del (p.Ser1951fs) rs80359543
NM_000059.4(BRCA2):c.5862_5863del (p.Ser1955fs) rs786202700
NM_000059.4(BRCA2):c.631+7A>G rs431825339
NM_000059.4(BRCA2):c.6643del (p.Tyr2215fs) rs80359614
NM_000059.4(BRCA2):c.7008-2A>T rs81002823
NM_000059.4(BRCA2):c.7188G>A (p.Leu2396=) rs587780871
NM_000059.4(BRCA2):c.7563C>A (p.Ile2521=) rs786204282
NM_000059.4(BRCA2):c.7618-21G>T rs376957350
NM_000059.4(BRCA2):c.7618-6G>T rs1057520251
NM_000059.4(BRCA2):c.774_775del (p.Glu260fs) rs75096777
NM_000059.4(BRCA2):c.7806-2A>G rs81002836
NM_000059.4(BRCA2):c.7826G>A (p.Gly2609Asp) rs80359009
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014
NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val) rs80359031
NM_000059.4(BRCA2):c.8470A>T (p.Arg2824Ter) rs886040778
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000059.4(BRCA2):c.8924del (p.Val2975fs) rs397508020
NM_000059.4(BRCA2):c.8954-5A>G rs886040949
NM_000059.4(BRCA2):c.8991T>G (p.Tyr2997Ter) rs397508028
NM_000059.4(BRCA2):c.9148C>T (p.Gln3050Ter) rs80359170
NM_000059.4(BRCA2):c.9302T>G (p.Leu3101Arg) rs28897758
NM_000059.4(BRCA2):c.956A>G (p.Asn319Ser) rs55939572
NM_000059.4(BRCA2):c.9606G>A (p.Pro3202=) rs755890067
NM_000059.4(BRCA2):c.9648+106del rs11571824
NM_000059.4(BRCA2):c.9649-6dup rs276174929
NM_000077.5(CDKN2A):c.370C>T (p.Arg124Cys) rs34170727
NM_000080.4(CHRNE):c.488C>T (p.Ser163Leu) rs121909516
NM_000082.4(ERCC8):c.550+15T>C rs1748965740
NM_000092.5(COL4A4):c.3018A>T (p.Arg1006Ser) rs531161419
NM_000092.5(COL4A4):c.4760C>G (p.Pro1587Arg) rs190148408
NM_000094.4(COL7A1):c.724G>A (p.Glu242Lys) rs549872555
NM_000094.4(COL7A1):c.8539C>T (p.Pro2847Ser) rs140041143
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg) rs139160837
NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter) rs759900071
NM_000155.4(GALT):c.598del (p.Gln200fs) rs111033738
NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer) rs267608077
NM_000179.3(MSH6):c.1714C>T (p.Gln572Ter) rs1064795256
NM_000179.3(MSH6):c.1901_1902del (p.Thr633_Leu634insTer) rs267608082
NM_000179.3(MSH6):c.2677_2678del (p.Leu893fs) rs1572728112
NM_000179.3(MSH6):c.2910G>A (p.Trp970Ter) rs765411990
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3354G>A (p.Glu1118=) rs35642130
NM_000179.3(MSH6):c.3439-1G>T rs587779263
NM_000179.3(MSH6):c.3456A>G (p.Val1152=) rs750998416
NM_000179.3(MSH6):c.3557-4del rs267608102
NM_000179.3(MSH6):c.3646+35_3646+38del rs1805181
NM_000179.3(MSH6):c.3932_3935dup (p.Ile1313fs) rs267608127
NM_000179.3(MSH6):c.3964G>T (p.Glu1322Ter) rs1553333707
NM_000179.3(MSH6):c.4001+4_4001+8dup rs587782853
NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln) rs267608122
NM_000179.3(MSH6):c.4002-10del rs59056100
NM_000179.3(MSH6):c.4068_4071dup (p.Lys1358delinsAspTer) rs55740729
NM_000179.3(MSH6):c.694C>T (p.Gln232Ter) rs587779318
NM_000213.5(ITGB4):c.599C>T (p.Pro200Leu) rs148770294
NM_000218.3(KCNQ1):c.1986C>T (p.Tyr662=) rs11601907
NM_000243.3(MEFV):c.414A>G (p.Gly138=) rs224224
NM_000249.4(MLH1):c.*32CTT[1] rs193922366
NM_000249.4(MLH1):c.1039-11_1039-8dup rs57509953
NM_000249.4(MLH1):c.1039-8_1039-7insTTTTTTTA rs535965616
NM_000249.4(MLH1):c.1050del (p.Gly351fs) rs587778883
NM_000249.4(MLH1):c.1266C>T (p.Gly422=) rs63750791
NM_000249.4(MLH1):c.1731G>A (p.Ser577=) rs63751657
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr) rs63750449
NM_000249.4(MLH1):c.1896G>A (p.Glu632=) rs63751632
NM_000249.4(MLH1):c.1975C>T (p.Arg659Ter) rs63751310
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.4(MLH1):c.2103+1G>A rs267607888
NM_000249.4(MLH1):c.2250C>G (p.Tyr750Ter) rs267607893
NM_000249.4(MLH1):c.290A>G (p.Tyr97Cys) rs773647920
NM_000249.4(MLH1):c.301G>A (p.Gly101Ser) rs267607726
NM_000249.4(MLH1):c.380+2T>C rs267607742
NM_000249.4(MLH1):c.453+1G>T rs267607750
NM_000249.4(MLH1):c.588del (p.Lys196fs) rs63751653
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter) rs63751615
NM_000249.4(MLH1):c.677G>T (p.Arg226Leu) rs63751711
NM_000249.4(MLH1):c.67del (p.Glu23fs) rs63750822
NM_000249.4(MLH1):c.790+1G>A rs267607789
NM_000249.4(MLH1):c.794G>C (p.Arg265Pro) rs63751448
NM_000249.4(MLH1):c.885-21TC[2] rs267607804
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter) rs63749849
NM_000251.3(MSH2):c.1386+1G>A rs267607957
NM_000251.3(MSH2):c.1705_1706del (p.Glu569fs) rs63750393
NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter) rs63749932
NM_000251.3(MSH2):c.212-4del rs746333570
NM_000251.3(MSH2):c.2211-2A>T rs267608001
NM_000251.3(MSH2):c.2228C>A (p.Ser743Ter) rs63751155
NM_000251.3(MSH2):c.2580G>T (p.Ser860=) rs752428475
NM_000251.3(MSH2):c.2714C>T (p.Thr905Ile) rs267608022
NM_000251.3(MSH2):c.508C>T (p.Gln170Ter) rs63750843
NM_000251.3(MSH2):c.70C>T (p.Gln24Ter) rs587779976
NM_000253.4(MTTP):c.-149C>A rs886058955
NM_000257.4(MYH7):c.3337-4dup rs45504498
NM_000297.4(PKD2):c.290AGG[7] (p.Glu102dup) rs750077647
NM_000301.5(PLG):c.185+14C>A rs369616302
NM_000313.4(PROS1):c.1501T>C (p.Ser501Pro) rs121918472
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000321.3(RB1):c.45_53del (p.Ala16_Ala18del) rs572454921
NM_000322.5(PRPH2):c.737G>C (p.Trp246Ser) rs1582764697
NM_000342.4(SLC4A1):c.286C>T (p.Arg96Cys) rs538778224
NM_000369.5(TSHR):c.1377G>A (p.Ala459=) rs113951800
NM_000369.5(TSHR):c.1462T>C (p.Trp488Arg) rs2140111252
NM_000375.3(UROS):c.512T>C (p.Val171Ala) rs17173752
NM_000384.3(APOB):c.10913G>A (p.Arg3638Gln)
NM_000384.3(APOB):c.26TGGCGCTGC[1] (p.9LAL[1])
NM_000384.3(APOB):c.293C>T (p.Thr98Ile)
NM_000427.3(LORICRIN):c.835GGC[6] (p.Gly283dup) rs546948100
NM_000455.5(STK11):c.163C>T (p.Leu55=) rs1057520869
NM_000455.5(STK11):c.537G>A (p.Pro179=) rs528535500
NM_000455.5(STK11):c.580G>A (p.Asp194Asn) rs121913315
NM_000455.5(STK11):c.910C>T (p.Arg304Trp) rs786201090
NM_000465.4(BARD1):c.1075_1095del (p.Leu359_Pro365del) rs28997575
NM_000465.4(BARD1):c.2148_2149del (p.Ile717fs) rs786203811
NM_000489.6(ATRX):c.4365GGA[4] (p.Glu1464del) rs398123423
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.1265C>T (p.Ser422Phe) rs201880593
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769
NM_000521.4(HEXB):c.115del (p.Val39fs) rs398123443
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000535.7(PMS2):c.1238_1239delinsGG (p.Lys413Arg) rs587780041
NM_000535.7(PMS2):c.1789A>G (p.Thr597Ala) rs1805318
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_000535.7(PMS2):c.354-2A>G rs786202098
NM_000535.7(PMS2):c.706-4del rs60794673
NM_000535.7(PMS2):c.706-5_706-4del rs60794673
NM_000535.7(PMS2):c.903+1G>A rs1554300689
NM_000540.3(RYR1):c.10188C>T (p.Asp3396=) rs2229145
NM_000545.8(HNF1A):c.-167TGGGGGT[3] rs538476099
NM_000546.6(TP53):c.63C>T (p.Asp21=) rs1800369
NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln) rs61749370
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly) rs72551322
NM_000791.4(DHFR):c.-418GGCCGCTGC[1] rs758960105
NM_001005361.3(DNM2):c.1782-7C>A rs200843089
NM_001007026.1(ATN1):c.1462CAG[17] (p.Gln488[17]) rs60216939
NM_001009944.3(PKD1):c.3502C>T (p.Pro1168Ser) rs146887330
NM_001009944.3(PKD1):c.9889G>A (p.Val3297Met) rs775497330
NM_001018115.3(FANCD2):c.2022-5C>T rs4019784
NM_001029883.3(PCARE):c.920T>A (p.Leu307Ter) rs1397537890
NM_001048174.2(MUTYH):c.116-55C>T rs1316542179
NM_001082538.3(TCTN1):c.699TAA[1] (p.Asn235del) rs797046038
NM_001122630.2(CDKN1C):c.573GGCCCC[2] (p.186AP[8]) rs759134767
NM_001127381.1(PPP2R2B):c.-183_-181GCA[4] rs10591869
NM_001128164.2(ATXN1):c.588GCA[12] (p.Gln208del) rs193922926
NM_001128840.3(CACNA1D):c.2751+14G>T rs748663117
NM_001128840.3(CACNA1D):c.5767_5769del (p.Phe1923del) rs72556363
NM_001142459.2(ASB10):c.731G>A (p.Arg244His) rs104886476
NM_001190274.2(FBXO11):c.924G>C (p.Met308Ile) rs1219431687
NM_001267550.2(TTN):c.96235G>A (p.Asp32079Asn) rs200540781
NM_001329.4(CTBP2):c.1218C>A (p.Ile406=) rs796230948
NM_001365088.1(SLC12A6):c.2436+1del rs515726215
NM_001844.5(COL2A1):c.3511C>T (p.Pro1171Ser) rs147750391
NM_001940.4(ATN1):c.1464GCA[10] (p.Gln498_Gln502del) rs60216939
NM_001940.4(ATN1):c.1464GCA[8] (p.Gln496_Gln502del) rs60216939
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002016.2(FLG):c.6950_6957del (p.Ala2316_Ser2317insTer) rs578184315
NM_002272.4(KRT4):c.259_260insCCGGCGGCTTCGGAGCTGGTTTCGGCACTGGTGGCTTTGGTG (p.Gly86_Gly87insAlaGlyGlyPheGlyAlaGlyPheGlyThrGlyGlyPheGly) rs11267392
NM_002470.4(MYH3):c.5254G>T (p.Ala1752Ser) rs34393601
NM_002485.5(NBN):c.758C>T (p.Thr253Ile) rs61754967
NM_002693.3(POLG):c.3151G>C (p.Gly1051Arg) rs121918049
NM_002769.5(PRSS1):c.86A>T (p.Asn29Ile) rs111033566
NM_002878.4(RAD51D):c.141C>G (p.Tyr47Ter) rs771077929
NM_002907.4(RECQL):c.132_135del (p.Lys44_Lys45insTer) rs775055596
NM_002907.4(RECQL):c.644G>T (p.Arg215Leu) rs561515655
NM_003072.5(SMARCA4):c.722_733del (p.229GP[6]) rs568390760
NM_003194.5(TBP):c.225GCA[10] (p.Gln87_Gln95del) rs752404282
NM_003661.3(APOL1):c.[1024A>G;1152T>G]
NM_003737.4(DCHS1):c.701C>G (p.Pro234Arg) rs149022037
NM_003738.5(PTCH2):c.1864C>A (p.His622Asn) rs11573586
NM_003738.5(PTCH2):c.1864C>T (p.His622Tyr) rs11573586
NM_003924.4(PHOX2B):c.741_758del (p.Ala255_Ala260del) rs771383153
NM_004168.4(SDHA):c.1346C>T (p.Ala449Val) rs201139275
NM_004168.4(SDHA):c.1909-12_1909-11del rs372662724
NM_004304.5(ALK):c.4297GAG[2] (p.Glu1435del) rs138827116
NM_004333.6(BRAF):c.1742A>C (p.Asn581Thr) rs121913370
NM_004333.6(BRAF):c.1789C>T (p.Leu597=) rs121913369
NM_004333.6(BRAF):c.1794_1796dup (p.Thr599dup) rs727502902
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004360.5(CDH1):c.1308G>A (p.Leu436=) rs557551011
NM_004360.5(CDH1):c.1565+1G>T rs587780113
NM_004360.5(CDH1):c.2100del (p.Val701fs) rs1555517136
NM_004360.5(CDH1):c.2398del (p.Arg800fs) rs587783048
NM_004360.5(CDH1):c.49-9C>A rs1555509752
NM_004360.5(CDH1):c.69G>A (p.Gln23=) rs786202657
NM_004407.4(DMP1):c.293GAG[1] (p.Gly99del) rs576066727
NM_004589.4(SCO1):c.16C>G (p.Leu6Val) rs61753148
NM_004646.4(NPHS1):c.791C>A (p.Pro264Gln) rs34982899
NM_004795.4(KL):c.2296G>A (p.Gly766Ser) rs114752661
NM_004985.5(KRAS):c.35G>C (p.Gly12Ala) rs121913529
NM_004993.6(ATXN3):c.892CAG[17] (p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGln) rs193922928
NM_004993.6(ATXN3):c.892CAG[18] (p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGln) rs193922928
NM_004994.3(MMP9):c.782A>G (p.Asn261Ser) rs144229833
NM_005245.4(FAT1):c.3349G>A (p.Val1117Met) rs149295542
NM_005359.6(SMAD4):c.728_735del (p.Gly243fs) rs1060500742
NM_005359.6(SMAD4):c.746_747delinsCC (p.Gln249Pro) rs587782209
NM_006231.4(POLE):c.2090C>G (p.Pro697Arg) rs36120395
NM_006231.4(POLE):c.2865-6_2865-4del rs369732588
NM_006947.4(SRP72):c.20G>C (p.Gly7Ala) rs139502866
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) rs587780174
NM_007294.3(BRCA1):c.81-?_134+?del
NM_007294.4(BRCA1):c.1106_1108del (p.Asp369del) rs80358325
NM_007294.4(BRCA1):c.140G>A (p.Cys47Tyr) rs80357150
NM_007294.4(BRCA1):c.1418A>G (p.Asn473Ser) rs80357057
NM_007294.4(BRCA1):c.1703C>T (p.Pro568Leu) rs80356910
NM_007294.4(BRCA1):c.1843TCT[1] (p.Ser616del) rs80358329
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly) rs80357382
NM_007294.4(BRCA1):c.2232T>C (p.Ala744=) rs4986846
NM_007294.4(BRCA1):c.2612C>T (p.Pro871Leu) rs799917
NM_007294.4(BRCA1):c.2712A>G (p.Glu904=) rs1057522242
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter) rs80356978
NM_007294.4(BRCA1):c.305C>G (p.Ala102Gly) rs80357190
NM_007294.4(BRCA1):c.3328_3330del (p.Lys1110del) rs80358335
NM_007294.4(BRCA1):c.3600G>T (p.Gln1200His) rs56214134
NM_007294.4(BRCA1):c.3668_3671dup (p.Cys1225fs) rs80357797
NM_007294.4(BRCA1):c.3967C>T (p.Gln1323Ter) rs80357262
NM_007294.4(BRCA1):c.3G>A (p.Met1Ile) rs80357475
NM_007294.4(BRCA1):c.4096+3A>G rs80358015
NM_007294.4(BRCA1):c.4255G>C (p.Glu1419Gln) rs80357309
NM_007294.4(BRCA1):c.427G>T (p.Glu143Ter) rs80356991
NM_007294.4(BRCA1):c.4372C>T (p.Gln1458Ter) rs80356932
NM_007294.4(BRCA1):c.4399C>T (p.Gln1467Ter) rs397509171
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter) rs80356885
NM_007294.4(BRCA1):c.4609C>T (p.Gln1537Ter) rs80357229
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly) rs1799966
NM_007294.4(BRCA1):c.4987-2A>G rs397509212
NM_007294.4(BRCA1):c.5035del (p.Asn1678_Leu1679insTer) rs80357896
NM_007294.4(BRCA1):c.5059GTT[1] (p.Val1688del) rs80358344
NM_007294.4(BRCA1):c.5102_5103del (p.Leu1701fs) rs80357608
NM_007294.4(BRCA1):c.5144G>A (p.Ser1715Asn) rs45444999
NM_007294.4(BRCA1):c.5152+85del rs8176259
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala) rs45553935
NM_007294.4(BRCA1):c.5266C>T (p.Gln1756Ter) rs397509247
NM_007294.4(BRCA1):c.5332+20C>A rs1057521961
NM_007294.4(BRCA1):c.5427dup (p.Val1810fs) rs1555574739
NM_007294.4(BRCA1):c.5468-2A>G rs398122699
NM_007294.4(BRCA1):c.548-58del rs8176144
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met) rs80357268
NM_007294.4(BRCA1):c.5521A>C (p.Ser1841Arg) rs80357299
NM_007294.4(BRCA1):c.669G>A (p.Lys223=) rs1131692066
NM_007294.4(BRCA1):c.66A>G (p.Leu22=) rs786202533
NM_007294.4(BRCA1):c.66dup (p.Glu23fs) rs80357783
NM_007294.4(BRCA1):c.81-14C>T rs80358006
NM_007294.4(BRCA1):c.823G>A (p.Gly275Ser) rs8176153
NM_007294.4(BRCA1):c.844_850dup (p.Gln284fs) rs80357989
NM_014000.3(VCL):c.2862_2864del (p.Leu955del) rs397517237
NM_014336.5(AIPL1):c.971G>T (p.Arg324Leu) rs150427474
NM_014363.6(SACS):c.2926C>A (p.Arg976Ser) rs139993038
NM_014727.3(KMT2B):c.7428C>A (p.Ala2476=) rs368560676
NM_015311.3(OBSL1):c.4951G>T (p.Glu1651Ter) rs140825693
NM_016341.4(PLCE1):c.1927G>T (p.Ala643Ser) rs61886330
NM_019066.5(MAGEL2):c.1922C>G (p.Pro641Arg) rs556296973
NM_019098.5(CNGB3):c.2158CAAAAAGAAAATGAAGATAAA[1] (p.720QKENEDK[1]) rs746549330
NM_019109.5(ALG1):c.1292C>A (p.Ala431Glu) rs370439294
NM_019594.4(LRRC8A):c.2317C>A (p.Leu773Met) rs531989271
NM_020320.5(RARS2):c.726A>G (p.Gln242=) rs145499324
NM_022162.3(NOD2):c.3019dup (p.Leu1007fs) rs2066847
NM_024642.5(GALNT12):c.673A>T (p.Thr225Ser) rs531023279
NM_024675.4(PALB2):c.2607C>T (p.Ser869=) rs45542234
NM_025114.4(CEP290):c.7394_7395del (p.Glu2465fs) rs569673313
NM_030665.4(RAI1):c.3778GAG[1] (p.Glu1261del) rs149716029
NM_030665.4(RAI1):c.834GCA[7] (p.Gln286_Gln291del) rs371983878
NM_032043.3(BRIP1):c.133G>T (p.Glu45Ter) rs587781292
NM_032043.3(BRIP1):c.1552G>A (p.Val518Ile) rs786201701
NM_032119.4(ADGRV1):c.13668A>G (p.Thr4556=) rs758546069
NM_033343.4(LHX4):c.724_726del (p.Lys242del) rs771109452
NM_058216.3(RAD51C):c.397C>T (p.Gln133Ter) rs387907159
NM_138715.3(MSR1):c.877C>T (p.Arg293Ter) rs41341748
NM_139076.3(ABRAXAS1):c.7G>C (p.Gly3Arg) rs370520589
NM_139242.4(MTFMT):c.669G>T (p.Leu223Phe) rs372732702
NM_172362.3(KCNH1):c.2962G>T (p.Ala988Ser) rs371262198
NM_178857.6(RP1L1):c.3971A>G (p.Glu1324Gly) rs4240659
NM_178857.6(RP1L1):c.4018_4019insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG (p.Glu1339_Glu1340insGlyThrLysValIleGluGlyLeuGlnGluGluArgValGlnLeuGlu) rs1585963467
NM_182961.4(SYNE1):c.12585G>A (p.Lys4195=) rs149536991
NM_182972.3(IRF2BP2):c.864C>T (p.Gly288=) rs768782125
NM_194248.3(OTOF):c.2287G>A (p.Val763Ile) rs138545671
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del) rs377639087
NM_198681.4(PLEKHG5):c.-120C>T rs201669114
NM_201384.3(PLEC):c.8506G>A (p.Asp2836Asn) rs200814155
NM_207352.4(CYP4V2):c.1169G>A (p.Arg390His) rs199476201
NM_212482.4(FN1):c.6853+12C>G rs111303746
Single allele

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