ClinVar Miner

Variants from Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine with conflicting interpretations

Location: United States  Primary collection method: clinical testing
Minimum review status of the submission from Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine: Collection method of the submission from Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine:
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
7034 9820 61 5678 3710 73 668 9269

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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine pathogenic likely pathogenic uncertain significance likely benign benign affects association drug response established risk allele likely risk allele pathogenic, low penetrance protective risk factor uncertain risk allele other
pathogenic 2 350 38 2 1 1 0 1 0 1 3 0 0 1 0
likely pathogenic 579 1 152 4 3 0 0 1 0 0 0 0 1 0 0
uncertain significance 187 309 23 1862 468 0 0 5 0 0 0 1 2 0 5
likely benign 9 22 1396 4 1968 0 0 2 0 0 0 0 3 0 3
benign 14 18 340 2781 31 0 1 3 0 0 0 2 18 0 5
drug response 2 1 2 0 0 0 0 0 0 0 0 1 0 0 0
risk factor 7 1 1 1 1 0 1 0 2 1 0 0 0 0 0

Submitter to submitter summary #

Total submitters: 292
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 9077 0 1673 1426 3 173 3273
Invitae 0 6077 0 1022 772 8 193 1995
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2515 0 1028 471 1 13 1513
Eurofins Ntd Llc (ga) 0 2595 0 431 749 8 30 1216
CeGaT Center for Human Genetics Tuebingen 0 1756 0 710 411 2 48 1171
Ambry Genetics 0 3641 0 434 687 1 28 1150
PreventionGenetics, part of Exact Sciences 0 4447 0 636 431 1 42 1110
Clinical Genetics, Academic Medical Center 0 1980 0 711 181 0 10 902
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1929 0 559 192 0 21 772
Genetic Services Laboratory, University of Chicago 0 648 0 540 137 0 4 681
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 1131 0 475 89 0 8 572
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 307 0 496 71 0 3 570
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1868 0 367 177 0 21 565
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1985 0 301 193 1 22 517
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 1054 0 350 108 0 10 468
Athena Diagnostics Inc 0 1449 0 291 135 0 5 431
Illumina Laboratory Services, Illumina 0 442 0 239 136 4 32 411
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 483 57 107 179 0 0 343
Revvity Omics, Revvity 0 758 0 50 161 1 28 240
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 159 0 123 36 0 5 164
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 139 0 56 78 0 2 136
Quest Diagnostics Nichols Institute San Juan Capistrano 0 210 0 52 77 1 5 135
OMIM 0 257 0 66 6 34 20 124
Mayo Clinic Laboratories, Mayo Clinic 0 430 0 28 75 0 18 121
Department of Pathology and Laboratory Medicine, Sinai Health System 0 136 0 17 74 1 2 94
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 208 0 58 30 0 2 90
Baylor Genetics 0 236 0 66 0 2 6 73
Counsyl 0 96 0 62 0 0 9 71
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 155 0 5 51 0 11 67
Fulgent Genetics, Fulgent Genetics 0 261 0 50 11 1 4 66
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 236 0 39 21 0 6 66
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 77 0 22 39 0 1 62
Color Diagnostics, LLC DBA Color Health 0 256 0 25 30 0 6 61
All of Us Research Program, National Institutes of Health 0 339 0 44 3 0 13 60
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 67 0 19 29 0 0 48
Genome-Nilou Lab 0 138 0 44 0 0 4 48
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 62 0 25 19 0 2 46
Mendelics 0 105 0 19 18 1 5 43
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 60 0 13 22 1 1 37
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino 0 3 0 0 4 0 31 35
Natera, Inc. 0 211 0 31 0 0 3 34
Blueprint Genetics 0 76 0 11 10 0 12 33
CSER _CC_NCGL, University of Washington 0 40 0 5 18 0 5 28
Myriad Genetics, Inc. 0 111 0 25 0 0 3 28
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 48 0 19 0 0 7 26
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto 0 184 0 20 3 0 0 23
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 32 0 9 0 0 14 23
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 30 0 11 6 0 4 21
NIHR Bioresource Rare Diseases, University of Cambridge 0 13 0 13 1 3 4 21
AiLife Diagnostics, AiLife Diagnostics 0 74 0 3 2 0 15 20
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 50 0 9 8 0 0 17
Institute of Human Genetics, University of Leipzig Medical Center 0 61 0 12 0 1 4 17
Center for Medical Genetics Ghent, University of Ghent 0 30 0 13 0 0 3 16
Centre of Medical Genetics, University of Antwerp 0 17 0 16 0 0 0 16
MGZ Medical Genetics Center 0 58 0 15 0 0 0 15
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 32 0 6 4 2 3 15
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 43 0 9 2 0 4 15
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 68 0 13 0 0 1 14
3billion 0 77 0 14 0 0 0 14
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 23 0 8 4 0 1 13
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 0 65 0 13 0 0 0 13
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 42 0 9 3 0 1 13
Center for Human Genetics, University of Leuven 0 31 0 8 0 0 5 13
Molecular Genetics, Royal Melbourne Hospital 0 23 0 10 2 0 1 13
ClinGen Cardiomyopathy Variant Curation Expert Panel 0 40 0 6 0 0 6 12
Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency 0 36 0 5 7 0 0 12
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 2 0 1 1 0 9 11
New York Genome Center 0 24 0 6 3 0 1 10
Collagen Diagnostic Laboratory, University of Washington 0 1 0 9 0 0 0 9
Department of Ophthalmology and Visual Sciences Kyoto University 0 1 1 7 1 0 0 9
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 50 0 8 0 0 1 9
Database of Curated Mutations (DoCM) 0 21 0 9 0 0 0 9
Neuberg Centre For Genomic Medicine, NCGM 0 25 0 8 0 1 0 9
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 10 0 3 3 0 2 8
LDLR-LOVD, British Heart Foundation 0 9 0 7 0 0 1 8
Service de Génétique Moléculaire, Hôpital Robert Debré 0 10 0 2 0 0 6 8
Forensic Genetics Laboratory, Harris County Institute of Forensic Sciences 0 0 0 0 0 0 8 8
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 3 0 7 0 0 1 8
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 9 0 6 1 0 1 8
Reproductive Health Research and Development, BGI Genomics 0 21 0 7 0 1 0 8
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 39 0 3 1 0 4 8
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 15 0 6 1 0 0 7
Robarts Research Institute, Western University 0 0 0 7 0 0 0 7
University of Washington Department of Laboratory Medicine, University of Washington 0 17 0 6 0 0 1 7
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 26 0 2 2 0 3 7
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 7 0 3 2 2 0 7
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 8 0 4 2 0 0 6
University of Washington Center for Mendelian Genomics, University of Washington 0 2 0 4 0 0 2 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 24 0 5 0 0 1 6
National Institute on Deafness and Communication Disorders, National Institutes of Health 0 3 0 0 5 0 1 6
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 1 3 0 2 6
Yale Center for Mendelian Genomics, Yale University 0 6 0 6 0 0 0 6
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 11 0 5 0 0 1 6
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 0 0 0 6 0 0 0 6
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 21 0 5 1 0 0 6
Gharavi Laboratory, Columbia University 0 8 0 0 4 0 2 6
Johns Hopkins Genomics, Johns Hopkins University 0 26 0 6 0 0 0 6
CFTR-France 0 12 0 2 0 0 4 6
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 10 0 3 0 1 2 6
Institute of Human Genetics, University Hospital Muenster 0 13 0 2 0 0 4 6
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen 0 3 0 0 5 0 1 6
Division of Human Genetics, Children's Hospital of Philadelphia 0 18 0 5 0 0 0 5
Albrecht-Kossel-Institute, Medical University Rostock 0 0 0 0 0 4 1 5
Genetics and Molecular Pathology, SA Pathology 0 43 0 5 0 0 0 5
Leiden Open Variation Database 0 4 0 3 2 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 14 0 2 3 0 0 5
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 17 0 3 1 0 1 5
Genetics and Genomics Program, Sidra Medicine 0 3 0 1 0 0 4 5
Genomics England Pilot Project, Genomics England 0 9 0 5 0 0 0 5
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 25 0 2 1 0 1 4
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 5 0 0 1 0 3 4
Elsea Laboratory, Baylor College of Medicine 0 7 0 1 0 0 3 4
Centogene AG - the Rare Disease Company 0 31 0 3 0 0 1 4
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust 0 83 0 0 0 0 4 4
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 12 0 3 0 1 0 4
PharmGKB 0 2 0 0 0 4 0 4
Clinical Genetics and Genomics, Karolinska University Hospital 0 13 0 0 0 0 4 4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 1 0 0 3 4
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 3 0 4 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 9 0 3 1 0 1 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 28 0 3 0 0 1 4
SIB Swiss Institute of Bioinformatics 0 8 0 4 0 0 0 4
Sharon lab, Hadassah-Hebrew University Medical Center 0 9 0 4 0 0 0 4
Human Genomics Unit, Institute for molecular medicine Finland (FIMM) 0 1 0 1 1 0 2 4
Lifecell International Pvt. Ltd 0 2 0 4 0 0 0 4
Molecular Genetics Laboratory - Cardiogenetics, CHU de Nantes 0 6 0 4 0 0 0 4
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 21 0 2 0 1 0 3
Institute of Medical Molecular Genetics, University of Zurich 0 2 0 3 0 0 0 3
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf 0 1 0 2 0 0 1 3
Hadassah Hebrew University Medical Center 0 8 0 3 0 0 0 3
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 0 7 0 3 0 0 0 3
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 8 0 3 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 4 0 2 0 0 1 3
Undiagnosed Diseases Network, NIH 0 4 0 0 0 1 2 3
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation 0 0 0 3 0 0 0 3
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 3 0 0 0 3
Department of Pathology and Molecular Medicine, Queen's University 0 30 0 2 1 0 0 3
Iberoamerican FH Network 0 2 0 2 0 0 1 3
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 3 0 2 0 0 1 3
Inherited Neuropathy Consortium 0 0 0 1 0 0 2 3
ClinGen PAH Variant Curation Expert Panel 0 16 0 3 0 0 0 3
Institute of Reproductive Genetics, University of Münster 0 0 0 0 0 0 3 3
Klaassen Lab, Charite University Medicine Berlin 0 1 0 1 0 0 2 3
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas 0 0 0 0 2 1 0 3
Suma Genomics 0 8 0 2 0 0 1 3
DASA 0 29 0 2 0 0 1 3
Human Genetics Bochum, Ruhr University Bochum 0 2 0 2 0 0 1 3
Arcensus 0 7 0 3 0 0 0 3
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 9 0 3 0 0 0 3
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 6 0 2 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 6 0 1 0 1 0 2
GeneReviews 0 132 2 0 0 0 0 2
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 1 1 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 27 0 1 0 1 0 2
ITMI 0 165 0 2 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 1 0 0 1 2
Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire 0 1 0 1 1 0 0 2
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 3 0 2 0 0 0 2
Aziz Sancar Institute of Experimental Medicine, Istanbul University 0 0 0 1 0 1 0 2
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 8 0 2 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 4 0 2 0 0 0 2
Center for Statistical Genetics, Columbia University 0 0 0 1 0 0 1 2
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge 0 3 0 1 0 0 1 2
Phosphorus, Inc. 0 10 0 0 2 0 0 2
Clinical Genetics Laboratory, Region Ostergotland 0 3 0 2 0 0 0 2
Herman Laboratory, Nationwide Children's Hospital 0 2 0 2 0 0 0 2
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 0 7 0 2 0 0 0 2
Fundacion Hipercolesterolemia Familiar 0 5 0 2 0 0 0 2
Section on Medical Neuroendocrinolgy, National Institutes of Health 0 9 0 2 0 0 0 2
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 1 0 0 1 2
ClinGen RASopathy Variant Curation Expert Panel 0 27 0 2 0 0 0 2
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 1 0 0 1 2
Medical Genetics Summaries 0 0 0 0 0 2 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 0 1 0 0 1 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 20 0 2 0 0 0 2
Clingen PTEN Variant Curation Expert Panel, Clingen 0 4 0 2 0 0 0 2
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne 0 2 0 2 0 0 0 2
ClinGen TP53 Variant Curation Expert Panel, ClinGen 0 6 0 2 0 0 0 2
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 3 0 2 0 0 0 2
Sydney Genome Diagnostics, Children's Hospital Westmead 0 2 0 2 0 0 0 2
Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania 0 0 0 1 1 0 0 2
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel 0 4 0 2 0 0 0 2
Phenosystems SA 0 0 0 0 0 0 2 2
ClinGen ACADVL Variant Curation Expert Panel, ClinGen 0 2 0 2 0 0 0 2
Genomics And Bioinformatics Analysis Resource, Columbia University 0 5 0 2 0 0 0 2
Genetic Diagnostic Laboratory, University of Pennsylvania School of Medicine 0 2 0 1 0 0 0 1
Molecular Genetics Laboratory, Institute for Ophthalmic Research 0 3 0 1 0 0 0 1
Human Developmental Genetics Laboratory, Medical College of Wisconsin 0 0 0 1 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 10 0 1 0 0 0 1
Sema4, Sema4 0 2 0 0 0 1 0 1
CFTR2 0 15 0 1 0 0 0 1
UniProtKB/Swiss-Prot 0 4 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 6 0 0 0 0 1 1
GenMed Metabolism Lab 0 0 0 0 0 0 1 1
Inserm U 954, Faculté de Médecine de Nancy 0 0 0 1 0 0 0 1
RettBASE 0 2 0 1 0 0 0 1
Molecular Genetics and Enzymology, National Research Centre 0 0 0 0 0 0 1 1
Center for Genetic Medicine Research, Children's National Medical Center 0 1 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 4 0 0 0 0 1 1
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics 0 0 0 0 0 1 0 1
Foundation Medicine, Inc. 0 0 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 10 0 1 0 0 0 1
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health 0 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 6 0 1 0 0 0 1
Genome Sciences Centre, British Columbia Cancer Agency 0 0 0 0 0 0 1 1
Medical Genetics, University of Parma 0 2 0 0 0 0 1 1
Clinical Genetics, Erasmus University Medical Center 0 0 0 0 1 0 0 1
Bicknell laboratory, University of Otago 0 0 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 1 0 0 0 1
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. 0 7 0 1 0 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 0 0 0 0 0 0 1 1
Institute of Human Genetics, University of Wuerzburg 0 1 0 0 0 0 1 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 2 0 1 0 0 0 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 4 0 0 0 0 1 1
Neurogenetics Laboratory - MEYER, AOU Meyer 0 0 0 0 0 0 1 1
Institute of Medical Genetics, University of Zurich 0 0 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 0 0 1 0 1 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 0 0 0 0 1 0 1 1
Snyder Lab, Genetics Department, Stanford University 0 0 0 1 0 0 0 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
Genetics Department, University Hospital of Toulouse 0 0 0 0 0 0 1 1
Dan Cohn Lab, University Of California Los Angeles 0 0 0 1 0 0 0 1
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova 0 1 0 0 0 0 1 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 3 0 0 0 0 1 1
Ocular Genomics Institute, Massachusetts Eye and Ear 0 4 0 1 0 0 0 1
Biomedical Innovation Departament, CIEMAT 0 0 0 1 0 0 0 1
Medical Genetics Lab, Policlinico S. Orsola.Malpighi 0 0 0 0 0 0 1 1
CIViC knowledgebase, Washington University School of Medicine 0 2 0 1 0 0 0 1
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano 0 1 0 0 1 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 0 0 1 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 6 0 1 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 17 0 0 0 0 1 1
ClinGen Hearing Loss Variant Curation Expert Panel 0 7 0 1 0 0 0 1
Bruce Budowle Laboratory, University of North Texas Health Science Center 0 0 0 0 0 1 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 5 0 0 1 0 0 1
Molecular Pathology Diagnostics Labratory, University of Iowa Hospitals & Clinics 0 0 0 0 0 0 1 1
Laboratory of Human Genetics, Institute of Biosciences - University of Sao Paulo 0 5 0 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 2 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 1 0 0 0 1
Biochemistry Laboratory of CDMU, Chengde Medical University 0 0 0 0 0 0 1 1
deCODE genetics, Amgen 0 5 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 2 0 0 0 0 1 1
CZECANCA consortium 0 1 0 0 0 1 0 1
Genome Medicine, Institute for Basic Research in Developmental Disabilities 0 0 0 1 0 0 0 1
Laboratory for Population and Evolutionary Genetics, University of Puerto Rico at Mayaguez 0 0 0 1 0 0 0 1
Biochemical Genetics Department, Cyprus Institute of Neurology and Genetics 0 0 0 1 0 0 0 1
Genesis Genome Database 0 0 0 0 0 0 1 1
Molecular Cardiogenetic Lab, Hospices Civils de Lyon 0 0 0 1 0 0 0 1
Division of Respiratory Medicine of Juntendo University, Juntendo University Faculty of Medicine and Graduate School of Medicine 0 0 0 1 0 0 0 1
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics 0 15 0 1 0 0 0 1
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia 0 3 0 1 0 0 0 1
State Key Laboratory of Oncogenes and Related Genes, Shanghai Cancer Institute, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University 0 0 0 0 0 0 1 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 306 0 1 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 0 2 0 1 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 0 3 0 1 0 0 0 1
Department of Cardiology, Chinese Academy of Medical Sciences, Fuwai Hospital 0 0 0 0 0 1 0 1
Clinical Genomics Program, Stanford Medicine 0 2 0 1 0 0 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
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel 0 6 0 1 0 0 0 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 0 0 0 0 0 1 1
Molecular Biology Laboratory, Fundació Puigvert 0 0 0 1 0 0 0 1
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen 0 0 0 1 0 0 0 1
Genomic Medicine, Universita Cattolica del Sacro Cuore 0 0 0 0 0 0 1 1
Department of Vascular Biology, Beijing Anzhen Hospital 0 2 0 0 0 0 1 1
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State 0 16 0 1 0 0 0 1
Wainwright Lab, University Of Queensland 0 0 0 0 0 0 1 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 8 0 1 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 0 0 0 0 0 0 1 1
Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University 0 0 0 0 0 0 1 1
Bioinformatics Unit, Institut Pasteur de Montevideo 0 0 0 1 0 0 0 1
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 0 10 0 1 0 0 0 1
European Hospital Georges Pompidou Genetics Department, Assistance Publique - Hôpitaux de Paris AP-HP 0 0 0 1 0 0 0 1
Eurofins-Biomnis 0 1 0 0 0 1 0 1
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska" 0 3 0 1 0 0 0 1
IU Genetic Testing Laboratories, Indiana University School of Medicine 0 0 0 0 0 0 1 1
Cancer Genomics Lab, PINUM Cancer Hospital 0 1 0 1 0 0 0 1
Cytogenetics, Genetics Associates, Inc. 0 0 0 0 0 0 1 1
Dunham Lab, University of Washington 0 1 0 1 0 0 0 1
Dept of Medical Biology, Uskudar University 0 0 0 1 0 0 0 1
Biology Molecular and Stem Cell Facilities Laboratory, National Cardiovascular Center, Harapan Kita Hospital 0 0 0 0 0 0 1 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 0 0 0 0 0 1 1
Chao Lab, Baylor College of Medicine, Texas Children's Hospital 0 0 0 0 0 0 1 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 0 2 0 1 0 0 0 1
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 0 0 0 0 1 1
Cohesion Phenomics 0 0 0 0 1 0 0 1
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 10 0 0 0 1 0 1
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences 0 3 0 1 0 0 0 1
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 9269
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000363.5(TNNI3):c.373-10= rs7252610 0.99999
NM_000054.7(AVPR2):c.26-6T>G rs56689668 0.99968
NM_004415.4(DSP):c.741= (p.Ala247=) rs2806234 0.99917
NM_000338.3(SLC12A1):c.2873T>C (p.Val958Ala) rs1552311 0.99732
NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly) rs1169305 0.98610
NM_006790.3(MYOT):c.220= (p.Gln74=) rs6890689 0.98540
NM_032119.4(ADGRV1):c.16279G>A (p.Val5427Met) rs2438378 0.97114
NM_001191016.3(CASP12):c.373C>T (p.Arg125Ter) rs497116 0.95649
NM_025099.6(CTC1):c.2458A>G (p.Ile820Val) rs3027238 0.94552
NM_032119.4(ADGRV1):c.16031A>G (p.Glu5344Gly) rs2438374 0.93517
NM_000466.3(PEX1):c.2331C>A (p.Gly777=) rs10278857 0.93013
NM_000388.4(CASR):c.3031G>C (p.Glu1011Gln) rs1801726 0.91749
NM_032119.4(ADGRV1):c.18625-7T>C rs7726023 0.91136
NM_022336.4(EDAR):c.750C>T (p.Ser250=) rs260632 0.90287
NM_001184.4(ATR):c.7875G>A (p.Gln2625=) rs1802904 0.88595
NM_001814.6(CTSC):c.458T>C (p.Ile153Thr) rs217086 0.87257
NM_000038.6(APC):c.5465T>A (p.Val1822Asp) rs459552 0.82099
NM_004360.5(CDH1):c.48+6C>T rs3743674 0.80384
NM_020975.6(RET):c.2307G>T (p.Leu769=) rs1800861 0.79547
NM_173630.4(RTTN):c.5282T>C (p.Phe1761Ser) rs4891392 0.79319
NM_020975.6(RET):c.135A>G (p.Ala45=) rs1800858 0.79274
NM_025099.6(CTC1):c.3013A>G (p.Ile1005Val) rs3826543 0.77529
NM_004415.4(DSP):c.2091A>G (p.Gly697=) rs2076304 0.76849
NM_032119.4(ADGRV1):c.10411G>A (p.Glu3471Lys) rs2366928 0.76700
NM_015046.7(SETX):c.3576T>G (p.Asp1192Glu) rs1185193 0.76694
NM_000601.6(HGF):c.1272-4A>G rs1800793 0.76662
NM_000603.5(NOS3):c.894T>G (p.Asp298Glu) rs1799983 0.76319
NM_032119.4(ADGRV1):c.2367+8C>T rs2366773 0.76285
NM_001614.5(ACTG1):c.918C>T (p.Tyr306=) rs1139405 0.75861
NM_015046.7(SETX):c.1077T>C (p.Tyr359=) rs9411449 0.75774
NM_004168.4(SDHA):c.891T>C (p.Pro297=) rs1126417 0.74998
NM_032119.4(ADGRV1):c.3279G>T (p.Leu1093Phe) rs2366777 0.74245
NM_032119.4(ADGRV1):c.7751A>G (p.Asn2584Ser) rs1878878 0.74142
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile) rs1788799 0.73957
NM_032119.4(ADGRV1):c.5851G>A (p.Val1951Ile) rs4916684 0.73682
NM_173630.4(RTTN):c.376T>G (p.Ser126Ala) rs3911730 0.73528
NM_022336.4(EDAR):c.1056C>T (p.Cys352=) rs12623957 0.72397
NM_000152.5(GAA):c.324T>C (p.Cys108=) rs1800300 0.71989
NM_000552.5(VWF):c.4641T>C (p.Thr1547=) rs216310 0.71518
NM_001130987.2(DYSF):c.1881T>C (p.Asp627=) rs2303596 0.71202
NM_006005.3(WFS1):c.2565A>G (p.Ser855=) rs1046316 0.70506
NM_001276345.2(TNNT2):c.348C>T (p.Ile116=) rs3729547 0.69444
NM_001130987.2(DYSF):c.2637A>T (p.Ser879=) rs2288355 0.69367
NM_001164508.2(NEB):c.3081A>T (p.Lys1027Asn) rs6735208 0.69255
NM_001999.4(FBN2):c.5675-9C>T rs27713 0.68788
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg) rs1183768 0.68476
NM_002185.5(IL7R):c.197T>C (p.Ile66Thr) rs1494558 0.68368
NM_006005.3(WFS1):c.684C>G (p.Arg228=) rs1801213 0.68223
NM_015046.7(SETX):c.4156A>G (p.Ile1386Val) rs543573 0.68049
NM_001164508.2(NEB):c.771T>C (p.Ala257=) rs4611637 0.68008
NM_000505.4(F12):c.-4T>C rs1801020 0.67118
NM_002156.5(HSPD1):c.273A>G (p.Lys91=) rs8539 0.67099
NM_001164508.2(NEB):c.18305G>C (p.Arg6102Thr) rs2288210 0.66332
NM_001164508.2(NEB):c.4471G>A (p.Val1491Met) rs7426114 0.66326
NM_201384.3(PLEC):c.2457+6C>T rs11780911 0.66214
NM_004700.4(KCNQ4):c.777T>C (p.Ala259=) rs4660468 0.65693
NM_001018005.2(TPM1):c.453C>A (p.Ala151=) rs1071646 0.64628
NM_001164508.2(NEB):c.24433G>C (p.Ala8145Pro) rs7575451 0.64120
NM_006005.3(WFS1):c.1500C>T (p.Asn500=) rs1801214 0.63787
NM_001184.4(ATR):c.1776T>A (p.Gly592=) rs2227930 0.63717
NM_001184.4(ATR):c.632T>C (p.Met211Thr) rs2227928 0.63625
NM_006005.3(WFS1):c.461-9A>G rs10010131 0.63169
NM_032043.3(BRIP1):c.2755T>C (p.Ser919Pro) rs4986764 0.61453
NM_000540.3(RYR1):c.594A>G (p.Leu198=) rs2229139 0.60966
NM_000252.3(MTM1):c.1260+3G>A rs222410 0.58566
NM_006005.3(WFS1):c.2433G>A (p.Lys811=) rs1046314 0.57941
NM_000492.4(CFTR):c.1408G>A (p.Val470Met) rs213950 0.56732
NM_006005.3(WFS1):c.1185C>T (p.Val395=) rs1801206 0.56648
NM_018055.5(NODAL):c.494A>G (p.His165Arg) rs1904589 0.56006
NM_001164508.2(NEB):c.21585A>G (p.Thr7195=) rs4664475 0.55659
NM_201384.3(PLEC):c.11886A>G (p.Thr3962=) rs6558406 0.55590
NM_020999.4(NEUROG3):c.596T>C (p.Phe199Ser) rs4536103 0.55018
NM_201384.3(PLEC):c.12813A>G (p.Ser4271=) rs6558405 0.54173
NM_201384.3(PLEC):c.13461T>C (p.Ala4487=) rs7014582 0.54076
NM_001361.5(DHODH):c.19A>C (p.Lys7Gln) rs3213422 0.54012
NM_201384.3(PLEC):c.11628A>G (p.Pro3876=) rs7822511 0.53938
NM_201384.3(PLEC):c.7960T>C (p.Ser2654Pro) rs7833924 0.53335
NM_201384.3(PLEC):c.3965A>G (p.His1322Arg) rs55895668 0.53310
NM_005411.5(SFTPA1):c.148C>G (p.Leu50Val) rs1136450 0.52928
NM_003331.5(TYK2):c.1669+7T>C rs280519 0.52527
NM_032119.4(ADGRV1):c.11682C>T (p.Pro3894=) rs2438349 0.52519
NM_000257.4(MYH7):c.189C>T (p.Thr63=) rs2069540 0.51584
NM_001136219.3(FCGR2A):c.500A>G (p.His167Arg) rs1801274 0.50935
NM_006073.4(TRDN):c.383C>G (p.Thr128Ser) rs9490809 0.50546
NM_201384.3(PLEC):c.11127T>C (p.Ala3709=) rs7819099 0.50384
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val) rs1805082 0.49943
NM_001004482.1(OR13C5):c.244C>T (p.Leu82=) rs80227456 0.49704
NM_001378454.1(ALMS1):c.2190C>T (p.Phe730=) rs7598901 0.49457
NM_000448.3(RAG1):c.746A>G (p.His249Arg) rs3740955 0.48211
NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=) rs2303606 0.47852
NM_000260.4(MYO7A):c.47T>C (p.Leu16Ser) rs1052030 0.47208
NM_199242.3(UNC13D):c.2599A>G (p.Lys867Glu) rs1135688 0.47045
NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met) rs2229813 0.46716
NM_032119.4(ADGRV1):c.17626G>A (p.Val5876Ile) rs2247870 0.45079
NM_000492.4(CFTR):c.2562T>G (p.Thr854=) rs1042077 0.44737
NM_001267550.2(TTN):c.31864G>A (p.Gly10622Arg) rs2244492 0.44551
NM_015046.7(SETX):c.7759A>G (p.Ile2587Val) rs1056899 0.44536
NM_002474.3(MYH11):c.5439G>A (p.Lys1813=) rs1050162 0.44262
NM_002474.3(MYH11):c.5478G>A (p.Leu1826=) rs1050163 0.44235
NM_006005.3(WFS1):c.1832G>A (p.Arg611His) rs734312 0.43085
NM_000257.4(MYH7):c.2967T>C (p.Ile989=) rs7157716 0.43030
NM_014000.3(VCL):c.2388G>A (p.Pro796=) rs767809 0.42862
NM_032578.4(MYPN):c.3403C>A (p.Pro1135Thr) rs7079481 0.40619
NM_001164508.2(NEB):c.25204A>G (p.Ile8402Val) rs1061305 0.40617
NM_001065.4(TNFRSF1A):c.36A>G (p.Pro12=) rs767455 0.39963
NM_005214.5(CTLA4):c.49A>G (p.Thr17Ala) rs231775 0.39951
NM_001232.4(CASQ2):c.1185C>T (p.Asp395=) rs7413162 0.39681
NM_032578.4(MYPN):c.1884C>G (p.Phe628Leu) rs10823148 0.39447
NM_032578.4(MYPN):c.2072G>A (p.Ser691Asn) rs10997975 0.39270
NM_005908.4(MANBA):c.757G>A (p.Val253Ile) rs227368 0.39095
NM_032578.4(MYPN):c.2120G>A (p.Ser707Asn) rs7916821 0.39079
NM_001042545.2(LTBP4):c.3221C>T (p.Thr1074Met) rs10880 0.39072
NM_001167.4(XIAP):c.1268A>C (p.Gln423Pro) rs5956583 0.38953
NM_000340.2(SLC2A2):c.1437C>T (p.Phe479=) rs5398 0.38373
NM_000540.3(RYR1):c.7835+5A>G rs1469695 0.38217
NM_005956.4(MTHFD1):c.1958G>A (p.Arg653Gln) rs2236225 0.38175
NM_001065.4(TNFRSF1A):c.625+10A>G rs1800693 0.38055
NM_004100.5(EYA4):c.829G>A (p.Gly277Ser) rs9493627 0.37885
NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser) rs1805321 0.37107
NM_000057.4(BLM):c.2555+7T>C rs3815003 0.37072
NM_001256715.2(DNAAF3):c.1239-8A>G rs28377509 0.36480
NM_003244.4(TGIF1):c.16+1720del rs11571510 0.36186
NM_000410.4(HFE):c.340+4T>C rs2071303 0.35994
NM_000548.5(TSC2):c.5202T>C (p.Asp1734=) rs1748 0.35806
NM_033337.3(CAV3):c.99C>T (p.Asn33=) rs1008642 0.35756
NM_000559.3(HBG1):c.227C>T (p.Thr76Ile) rs1061234 0.35682
NM_001267550.2(TTN):c.56101A>G (p.Asn18701Asp) rs1001238 0.35628
NM_001267550.2(TTN):c.31564A>G (p.Ile10522Val) rs2042995 0.35566
NM_001267550.2(TTN):c.83323A>G (p.Ile27775Val) rs3829746 0.35516
NM_001267550.2(TTN):c.88187T>C (p.Ile29396Thr) rs9808377 0.35383
NM_000363.5(TNNI3):c.25-8T>A rs3729836 0.35138
NM_001267550.2(TTN):c.64208C>T (p.Thr21403Ile) rs2042996 0.34979
NM_017739.4(POMGNT1):c.681A>G (p.Lys227=) rs2292487 0.34915
NM_001164508.2(NEB):c.7839G>C (p.Lys2613Asn) rs13013209 0.34676
NM_000528.4(MAN2B1):c.1010G>A (p.Arg337Gln) rs1133330 0.34583
NM_153700.2(STRC):c.179T>C (p.Phe60Ser) rs2729509 0.34286
NM_003803.4(MYOM1):c.1146C>T (p.His382=) rs2230163 0.33709
NM_032119.4(ADGRV1):c.6695A>G (p.Tyr2232Cys) rs10037067 0.33642
NM_000540.3(RYR1):c.8190T>C (p.Asp2730=) rs2915951 0.33482
NM_001164508.2(NEB):c.13353C>T (p.Ala4451=) rs774726264 0.33333
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_000569.8(FCGR3A):c.526T>G (p.Phe176Val) rs396991 0.32987
NM_000540.3(RYR1):c.8589T>C (p.Ser2863=) rs2229146 0.32548
NM_032119.4(ADGRV1):c.5960C>T (p.Pro1987Leu) rs4916685 0.32486
NM_000540.3(RYR1):c.9186A>G (p.Pro3062=) rs2071089 0.32394
NM_181741.4(ORC4):c.233A>G (p.Asn78Ser) rs2307394 0.32301
NM_001371928.1(AHDC1):c.100A>C (p.Thr34Pro) rs758473342 0.32198
NM_000540.3(RYR1):c.8693-10G>C rs2915958 0.32159
NM_000540.3(RYR1):c.8337G>A (p.Glu2779=) rs2915952 0.32150
NM_000400.4(ERCC2):c.2251A>C (p.Lys751Gln) rs13181 0.31719
NM_015046.7(SETX):c.5563A>G (p.Thr1855Ala) rs2296871 0.31596
NM_015046.7(SETX):c.5811T>C (p.Asp1937=) rs2296869 0.31585
NM_052845.4(MMAB):c.57C>A (p.Arg19=) rs10774774 0.31358
NM_001164508.2(NEB):c.8734T>C (p.Ser2912Pro) rs6713162 0.31314
NM_001127701.1(SERPINA1):c.710T>C (p.Val237Ala) rs6647 0.31278
NM_032119.4(ADGRV1):c.7206G>A (p.Glu2402=) rs16876822 0.31193
NM_032119.4(ADGRV1):c.7034A>G (p.Asn2345Ser) rs2366926 0.31179
NM_032119.4(ADGRV1):c.6952-10G>A rs10040165 0.31172
NM_024006.4(VKORC1):c.-1639G>A rs9923231 0.31157
NM_181523.3(PIK3R1):c.334+14A>C rs706714 0.31124
NM_181523.3(PIK3R1):c.219C>T (p.Tyr73=) rs706713 0.31073
NM_000071.3(CBS):c.1080C>T (p.Ala360=) rs1801181 0.30942
NM_000528.4(MAN2B1):c.832C>G (p.Leu278Val) rs1054486 0.30800
NM_007294.4(BRCA1):c.3548A>G (p.Lys1183Arg) rs16942 0.30784
NM_001614.5(ACTG1):c.930C>T (p.Ala310=) rs1135989 0.30776
NM_001098668.4(SFTPA2):c.420C>T (p.Ser140=) rs1965707 0.30680
NM_001164508.2(NEB):c.5370G>A (p.Glu1790=) rs10170273 0.30371
NM_001492.6(GDF1):c.353C>T (p.Ala118Val) rs4808863 0.30267
NM_000548.5(TSC2):c.5161-10A>C rs1800718 0.30182
NM_004393.6(DAG1):c.2256C>T (p.His752=) rs1801143 0.30176
NM_201384.3(PLEC):c.4413T>C (p.Ala1471=) rs35916068 0.30160
NM_001005361.3(DNM2):c.2139T>C (p.Ala713=) rs2229920 0.30148
NM_032119.4(ADGRV1):c.9927T>G (p.Pro3309=) rs16869042 0.30112
NM_201384.3(PLEC):c.5907T>C (p.Ala1969=) rs2857829 0.29968
NM_201384.3(PLEC):c.4045-4A>G rs7002152 0.29962
NM_201384.3(PLEC):c.8495G>A (p.Arg2832His) rs6558407 0.29956
NM_201384.3(PLEC):c.3757-6A>G rs11136333 0.29944
NM_201384.3(PLEC):c.6441G>A (p.Ala2147=) rs7016416 0.29943
NM_201384.3(PLEC):c.3550T>C (p.Leu1184=) rs3135109 0.29936
NM_201384.3(PLEC):c.3746G>A (p.Arg1249Gln) rs11136334 0.29922
NM_201384.3(PLEC):c.4680G>A (p.Ala1560=) rs55836855 0.29922
NM_201384.3(PLEC):c.7581A>C (p.Ala2527=) rs11778026 0.29910
NM_201384.3(PLEC):c.6170C>T (p.Ala2057Val) rs7002002 0.29901
NM_201384.3(PLEC):c.8253C>T (p.Asn2751=) rs11777402 0.29844
NM_001164508.2(NEB):c.6807+6T>G rs10930723 0.29833
NM_201384.3(PLEC):c.4455T>G (p.Ala1485=) rs56117011 0.29823
NM_201384.3(PLEC):c.5928G>A (p.Ala1976=) rs1140522 0.29794
NM_201384.3(PLEC):c.10665G>A (p.Thr3555=) rs6984820 0.29792
NM_004517.4(ILK):c.297C>T (p.His99=) rs1043388 0.29694
NM_003803.4(MYOM1):c.999G>A (p.Gly333=) rs2230162 0.29399
NM_000271.5(NPC1):c.644A>G (p.His215Arg) rs1805081 0.29390
NM_001256715.2(DNAAF3):c.1056G>A (p.Pro352=) rs891187 0.29351
NM_201384.3(PLEC):c.1095T>C (p.Asp365=) rs11783799 0.29245
NM_201384.3(PLEC):c.4476G>A (p.Ala1492=) rs55646585 0.29155
NM_201384.3(PLEC):c.1511C>T (p.Ala504Val) rs11136336 0.29153
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941 0.29115
NM_001267550.2(TTN):c.25064C>A (p.Ala8355Glu) rs2627043 0.29094
NM_139343.3(BIN1):c.486T>C (p.Thr162=) rs1060743 0.29063
NM_005591.4(MRE11):c.403-6G>A rs535801 0.28996
NM_000246.4(CIITA):c.1499G>C (p.Gly500Ala) rs4774 0.27935
NM_001079802.2(FKTN):c.1026C>A (p.Leu342=) rs17309806 0.27837
NM_003803.4(MYOM1):c.1338C>T (p.Asn446=) rs2230167 0.27728
NM_032119.4(ADGRV1):c.11599G>A (p.Glu3867Lys) rs10062026 0.27574
NM_000257.4(MYH7):c.732C>T (p.Phe244=) rs2069542 0.27385
NM_001256715.2(DNAAF3):c.666T>C (p.Ala222=) rs7260320 0.27290
NM_004517.4(ILK):c.819G>A (p.Pro273=) rs1043390 0.27055
NM_001048174.2(MUTYH):c.930G>C (p.Gln310His) rs3219489 0.26720
NM_000400.4(ERCC2):c.934G>A (p.Asp312Asn) rs1799793 0.26310
NM_001164508.2(NEB):c.10809G>C (p.Trp3603Cys) rs10172023 0.26237
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln) rs34787999 0.25357
NM_001256715.2(DNAAF3):c.875A>G (p.Glu292Gly) rs2365725 0.24847
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg) rs1805124 0.24768
NM_001256715.2(DNAAF3):c.790-14C>T rs7260371 0.24759
NM_001164508.2(NEB):c.18294T>C (p.Tyr6098=) rs2288211 0.24726
NM_001267550.2(TTN):c.79862C>T (p.Thr26621Met) rs3731746 0.24029
NM_001365951.3(KIF1B):c.285C>G (p.Ala95=) rs12402052 0.24010
NM_032119.4(ADGRV1):c.6012G>T (p.Leu2004Phe) rs16868972 0.23938
NM_001267550.2(TTN):c.67075G>A (p.Val22359Ile) rs2303838 0.23912
NM_033337.3(CAV3):c.123T>C (p.Phe41=) rs13087941 0.23875
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058 0.23806
NM_001365951.3(KIF1B):c.5301C>A (p.Thr1767=) rs11121552 0.23676
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=) rs17718530 0.23571
NM_001101648.2(NPC1L1):c.816C>G (p.Leu272=) rs2072183 0.23523
NM_000492.4(CFTR):c.4389G>A (p.Gln1463=) rs1800136 0.23407
NM_000540.3(RYR1):c.7614+10C>G rs2960323 0.23284
NM_000070.3(CAPN3):c.706G>A (p.Ala236Thr) rs1801449 0.23274
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_177438.3(DICER1):c.1907+105C>T rs2275182 0.22841
NM_181523.3(PIK3R1):c.978G>A (p.Met326Ile) rs3730089 0.22679
NM_001127701.1(SERPINA1):c.1200A>C (p.Glu400Asp) rs1303 0.21786
NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) rs738409 0.21657
NM_001105206.3(LAMA4):c.3356C>G (p.Pro1119Arg) rs1050349 0.21500
NM_001267550.2(TTN):c.33287G>A (p.Arg11096His) rs36051007 0.21486
NM_001267550.2(TTN):c.78674T>C (p.Ile26225Thr) rs12463674 0.21485
NM_003803.4(MYOM1):c.1392G>A (p.Arg464=) rs11659820 0.21420
NM_000914.5(OPRM1):c.1165-11152C>T rs677830 0.21164
NM_001317778.2(SFTPC):c.413C>A (p.Thr138Asn) rs4715 0.20729
NM_020975.6(RET):c.135= (p.Ala45=) rs1800858 0.20726
NM_170707.4(LMNA):c.1698C>T (p.His566=) rs4641 0.20715
NM_000270.4(PNP):c.151G>A (p.Gly51Ser) rs1049564 0.20682
NM_001100.4(ACTA1):c.130-10G>C rs41271481 0.20670
NM_020975.6(RET):c.337+9G>A rs2435351 0.20641
NM_080424.4(SP110):c.617C>T (p.Ala206Val) rs28930679 0.20608
NM_001164508.2(NEB):c.13628A>C (p.Lys4543Thr) rs200125713 0.20353
NM_001164508.2(NEB):c.4435G>A (p.Val1479Ile) rs34577613 0.20341
NM_000350.3(ABCA4):c.5836-11G>A rs1800739 0.20309
NM_032119.4(ADGRV1):c.8538T>G (p.Leu2846=) rs6880570 0.20255
NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=) rs2275029 0.19626
NM_001130987.2(DYSF):c.6321+15C>T rs2559082 0.19470
NM_006929.5(SKIC2):c.3212C>T (p.Ala1071Val) rs449643 0.19166
NM_206933.4(USH2A):c.11504C>T (p.Thr3835Ile) rs11120616 0.19146
NM_000179.3(MSH6):c.116G>A (p.Gly39Glu) rs1042821 0.18742
NM_001130987.2(DYSF):c.4026C>T (p.Asn1342=) rs11558179 0.18595
NM_170707.4(LMNA):c.861T>C (p.Ala287=) rs538089 0.18331
NM_170707.4(LMNA):c.1157+16G>A rs534807 0.18318
NM_175914.5(HNF4A):c.50-5C>T rs745975 0.17964
NM_001261428.3(LPIN1):c.113G>A (p.Arg38Gln) rs4614906 0.17664
NM_000057.4(BLM):c.3102G>A (p.Thr1034=) rs2227933 0.17570
NM_001267550.2(TTN):c.2432C>T (p.Thr811Ile) rs35813871 0.17564
NM_001164508.2(NEB):c.16911A>G (p.Pro5637=) rs33988153 0.17490
NM_020549.5(CHAT):c.358G>A (p.Ala120Thr) rs3810950 0.17408
NM_006073.4(TRDN):c.1257C>A (p.Asp419Glu) rs17737379 0.17356
NM_053025.4(MYLK):c.62C>A (p.Pro21His) rs28497577 0.17349
NM_001692.4(ATP6V1B1):c.89C>T (p.Thr30Ile) rs17720303 0.16644
NM_020975.6(RET):c.2071G>A (p.Gly691Ser) rs1799939 0.16640
NM_173630.4(RTTN):c.6144A>G (p.Val2048=) rs2304378 0.16509
NM_006073.4(TRDN):c.1211T>G (p.Val404Gly) rs28494009 0.16504
NM_001267550.2(TTN):c.98098+9T>A rs2288325 0.16490
NM_206937.2(LIG4):c.26C>T (p.Thr9Ile) rs1805388 0.16468
NM_001267550.2(TTN):c.22384G>C (p.Asp7462His) rs12693166 0.16435
NM_000540.3(RYR1):c.7863C>T (p.His2621=) rs2229142 0.16420
NM_001267550.2(TTN):c.26408A>G (p.Asn8803Ser) rs12693164 0.16204
NM_000368.5(TSC1):c.1335A>G (p.Glu445=) rs7862221 0.15974
NM_152564.5(VPS13B):c.9492T>C (p.Ser3164=) rs36074608 0.15932
NM_001267550.2(TTN):c.24431A>C (p.Glu8144Ala) rs16866465 0.15861
NM_032119.4(ADGRV1):c.13599A>G (p.Thr4533=) rs17554631 0.15645
NM_001376.5(DYNC1H1):c.3600A>G (p.Gln1200=) rs12893215 0.15549
NM_000057.4(BLM):c.3945C>T (p.Leu1315=) rs1063147 0.15526
NM_000057.4(BLM):c.3531C>A (p.Ala1177=) rs2227934 0.15517
NM_053025.4(MYLK):c.782T>C (p.Val261Ala) rs3796164 0.15515
NM_032119.4(ADGRV1):c.3141A>G (p.Ala1047=) rs950692 0.15398
NM_000368.5(TSC1):c.965T>C (p.Met322Thr) rs1073123 0.15387
NM_000231.3(SGCG):c.228T>C (p.Asp76=) rs1800350 0.15152
NM_001130987.2(DYSF):c.1276+11C>T rs35982795 0.15096
NM_001376.5(DYNC1H1):c.8928A>G (p.Leu2976=) rs8010870 0.14754
NM_032119.4(ADGRV1):c.9743G>A (p.Gly3248Asp) rs16869032 0.14695
NM_001709.5(BDNF):c.196G>A (p.Val66Met) rs6265 0.14533
NM_004281.4(BAG3):c.451T>C (p.Cys151Arg) rs2234962 0.14532
NM_001267550.2(TTN):c.97613G>A (p.Arg32538His) rs3731749 0.14445
NM_022114.4(PRDM16):c.1898C>T (p.Pro633Leu) rs2493292 0.14386
NM_001130987.2(DYSF):c.396C>T (p.Pro132=) rs34603128 0.14353
NM_013382.7(POMT2):c.1654-6A>G rs4540995 0.14330
NM_001999.4(FBN2):c.111G>A (p.Pro37=) rs55715053 0.14249
NM_024301.5(FKRP):c.135C>T (p.Ala45=) rs2287717 0.14031
NM_206937.2(LIG4):c.1704T>C (p.Asp568=) rs1805386 0.13864
NM_139343.3(BIN1):c.957C>T (p.Ala319=) rs2276579 0.13837
NM_004415.4(DSP):c.4535A>G (p.Tyr1512Cys) rs2076299 0.13777
NM_001130987.2(DYSF):c.888+11T>C rs13428076 0.13574
NM_001267550.2(TTN):c.59585C>T (p.Pro19862Leu) rs16866406 0.13367
NM_001267550.2(TTN):c.58436G>A (p.Arg19479His) rs2288569 0.13356
NM_000500.9(CYP21A2):c.806G>C (p.Ser269Thr) rs6472 0.13352
NM_001267550.2(TTN):c.103781G>A (p.Arg34594His) rs3829747 0.13294
NM_001039958.2(MESP2):c.573G>A (p.Gly191=) rs113097169 0.13255
NM_001267550.2(TTN):c.74839C>T (p.Arg24947Cys) rs744426 0.13213
NM_000271.5(NPC1):c.387T>C (p.Tyr129=) rs12970899 0.13133
NM_000548.5(TSC2):c.482-3C>T rs1800720 0.12927
NM_003119.4(SPG7):c.1507A>G (p.Thr503Ala) rs2292954 0.12849
NM_000540.3(RYR1):c.10687-7C>T rs2960354 0.12378
NM_030777.4(SLC2A10):c.616G>A (p.Ala206Thr) rs2235491 0.12316
NM_001077365.2(POMT1):c.699+52C>T rs3887873 0.12205
NM_006929.5(SKIC2):c.452A>G (p.Gln151Arg) rs438999 0.11951
NM_001127701.1(SERPINA1):c.374G>A (p.Arg125His) rs709932 0.11804
NM_053025.4(MYLK):c.2582T>C (p.Leu861Pro) rs3732486 0.11664
NM_001267550.2(TTN):c.92131G>A (p.Val30711Met) rs747122 0.11550
NM_032119.4(ADGRV1):c.18741G>A (p.Gly6247=) rs13158963 0.11513
NM_003002.4(SDHD):c.204C>T (p.Ser68=) rs9919552 0.11428
NM_000431.4(MVK):c.155G>A (p.Ser52Asn) rs7957619 0.11415
NM_001267550.2(TTN):c.14525G>A (p.Arg4842Lys) rs2742347 0.11354
NM_033380.3(COL4A5):c.1331T>G (p.Ile444Ser) rs2272946 0.11020
NM_022124.6(CDH23):c.9319+11G>A rs11000013 0.10868
NM_000051.4(ATM):c.5557G>A (p.Asp1853Asn) rs1801516 0.10783
NM_000388.4(CASR):c.2956G>T (p.Ala986Ser) rs1801725 0.10682
NM_000214.3(JAG1):c.588C>T (p.Cys196=) rs1801138 0.10620
NM_001999.4(FBN2):c.183C>G (p.Pro61=) rs73348287 0.10581
NM_012210.4(TRIM32):c.1254G>A (p.Val418=) rs1661300 0.10569
NM_001267550.2(TTN):c.982C>T (p.Arg328Cys) rs16866538 0.10360
NM_003283.6(TNNT1):c.129-9T>G rs67795913 0.10318
NM_000540.3(RYR1):c.7098C>T (p.Pro2366=) rs2229147 0.10248
NM_001164508.2(NEB):c.2944-9G>A rs13427102 0.10205
NM_005411.5(SFTPA1):c.655C>T (p.Arg219Trp) rs4253527 0.10197
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000231.3(SGCG):c.347G>A (p.Arg116His) rs17314986 0.09986
NM_001267550.2(TTN):c.36655T>G (p.Leu12219Val) rs12994774 0.09975
NM_001130987.2(DYSF):c.951+4T>C rs11903960 0.09951
NM_001267550.2(TTN):c.68217T>C (p.His22739=) rs10497517 0.09829
NM_000601.6(HGF):c.333A>G (p.Glu111=) rs5745635 0.09752
NM_001384474.1(LOXHD1):c.2473G>A (p.Val825Met) rs36086089 0.09592
NM_000070.3(CAPN3):c.96T>C (p.Thr32=) rs1801496 0.09551
NM_001034853.2(RPGR):c.1697G>A (p.Gly566Glu) rs1801688 0.09526
NM_003803.4(MYOM1):c.660T>C (p.Ser220=) rs2230166 0.09353
NM_001034853.2(RPGR):c.1274G>A (p.Arg425Lys) rs1801687 0.09261
NM_001308093.3(GATA4):c.1132A>G (p.Ser378Gly) rs3729856 0.09064
NM_006073.4(TRDN):c.1408C>A (p.Leu470Met) rs6569336 0.09024
NM_006393.3(NEBL):c.2997A>G (p.Thr999=) rs2296614 0.08806
NM_080424.4(SP110):c.619G>A (p.Glu207Lys) rs9061 0.08779
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=) rs2290021 0.08719
NM_012082.4(ZFPM2):c.2346G>C (p.Glu782Asp) rs2920048 0.08600
NM_201384.3(PLEC):c.12561C>T (p.Asp4187=) rs11998271 0.08588
NM_001277115.2(DNAH11):c.11272T>C (p.Ser3758Pro) rs17145720 0.08574
NM_004985.5(KRAS):c.451-9G>A rs12313763 0.08467
NM_033337.3(CAV3):c.27C>T (p.Leu9=) rs1974763 0.08452
NM_000214.3(JAG1):c.2214A>C (p.Thr738=) rs1801140 0.08364
NM_001267550.2(TTN):c.29153T>C (p.Ile9718Thr) rs4893852 0.08349
NM_000368.5(TSC1):c.2829C>T (p.Ala943=) rs4962081 0.08329
NM_001276345.2(TNNT2):c.237G>A (p.Ser79=) rs3729845 0.08311
NM_001164508.2(NEB):c.10707G>A (p.Lys3569=) rs6717213 0.08304
NM_000214.3(JAG1):c.267G>A (p.Gly89=) rs1051415 0.08298
NM_005411.5(SFTPA1):c.56T>C (p.Val19Ala) rs1059047 0.08215
NM_001267550.2(TTN):c.96158T>C (p.Ile32053Thr) rs62621236 0.08189
NM_000548.5(TSC2):c.2580T>C (p.Phe860=) rs13337626 0.08017
NM_000218.3(KCNQ1):c.1590+14T>C rs11024034 0.07860
NM_001267550.2(TTN):c.26681C>T (p.Pro8894Leu) rs13398235 0.07839
NM_001267550.2(TTN):c.106275G>C (p.Gly35425=) rs56207956 0.07828
NM_001267550.2(TTN):c.25921+10C>T rs10183237 0.07769
NM_201384.3(PLEC):c.8820C>G (p.Asp2940Glu) rs58308209 0.07595
NM_000492.4(CFTR):c.3870A>G (p.Pro1290=) rs1800130 0.07467
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln) rs10254120 0.07445
NM_144997.7(FLCN):c.871+36G>A rs3744124 0.07420
NM_022336.4(EDAR):c.357-4G>A rs748225 0.07354
NM_000363.5(TNNI3):c.150+13G>A rs73617692 0.07353
NM_201384.3(PLEC):c.3378G>A (p.Glu1126=) rs11991764 0.07344
NM_003476.5(CSRP3):c.336G>A (p.Ala112=) rs13451 0.07238
NM_001267550.2(TTN):c.42783A>G (p.Lys14261=) rs16866425 0.07162
NM_001145308.5(LRTOMT):c.69G>C (p.Leu23=) rs12272086 0.07159
NM_001267550.2(TTN):c.42958A>G (p.Lys14320Glu) rs6723526 0.07129
NM_201384.3(PLEC):c.10920C>T (p.Tyr3640=) rs28455570 0.07092
NM_203447.4(DOCK8):c.5908G>C (p.Ala1970Pro) rs34908836 0.07052
NM_002471.4(MYH6):c.166G>A (p.Gly56Arg) rs28711516 0.06950
NM_000214.3(JAG1):c.744A>G (p.Pro248=) rs10485741 0.06947
NM_001368067.1(LDB3):c.504T>C (p.Asp168=) rs76615432 0.06909
NM_032119.4(ADGRV1):c.8730+10_8730+11insC rs377585302 0.06843
NM_007078.3(LDB3):c.690-4842G>A rs113445294 0.06823
NM_006005.3(WFS1):c.2322G>A (p.Lys774=) rs2230721 0.06809
NM_003283.6(TNNT1):c.35A>G (p.Glu12Gly) rs112562759 0.06801
NM_003661.4(APOL1):c.1024A>G (p.Ser342Gly) rs73885319 0.06773
NM_032119.4(ADGRV1):c.5780C>T (p.Thr1927Met) rs17544552 0.06764
NM_053025.4(MYLK):c.2742C>A (p.Asp914Glu) rs3732487 0.06754
NM_014000.3(VCL):c.1506G>A (p.Arg502=) rs2228373 0.06736
NM_003661.4(APOL1):c.1152T>G (p.Ile384Met) rs60910145 0.06710
NM_000169.3(GLA):c.-12G>A rs3027585 0.06554
NM_000540.3(RYR1):c.7089C>T (p.Cys2363=) rs2228071 0.06536
NM_001130987.2(DYSF):c.1038C>T (p.His346=) rs36122356 0.06463
NM_000169.3(GLA):c.-10C>T rs2071225 0.06441
NM_033409.4(SLC52A3):c.222C>G (p.Ile74Met) rs35655964 0.06422
NM_032119.4(ADGRV1):c.9280G>A (p.Val3094Ile) rs13157270 0.06417
NM_000337.5(SGCD):c.-303A>T rs7725121 0.06375
NM_003803.4(MYOM1):c.192G>T (p.Ala64=) rs9964300 0.06307
NM_001458.5(FLNC):c.4700G>A (p.Arg1567Gln) rs2291569 0.06258
NM_001199107.2(TBC1D24):c.207T>C (p.Pro69=) rs13339237 0.06245
NM_001256715.2(DNAAF3):c.1164-14C>T rs60176657 0.06188
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg) rs696723 0.06184
NM_000257.4(MYH7):c.1062C>T (p.Gly354=) rs735712 0.06133
NM_001927.4(DES):c.578+11G>A rs111548596 0.06130
NM_000091.5(COL4A3):c.3807C>A (p.Asp1269Glu) rs57611801 0.06070
NM_001267550.2(TTN):c.71993G>A (p.Arg23998His) rs10164753 0.06031
NM_001256715.2(DNAAF3):c.510A>G (p.Val170=) rs56726774 0.06016
NM_001276345.2(TNNT2):c.788A>G (p.Lys263Arg) rs3730238 0.05965
NM_201384.3(PLEC):c.8319C>T (p.Ala2773=) rs34534853 0.05909
NM_001267550.2(TTN):c.22080T>C (p.Asp7360=) rs16866473 0.05854
NM_201384.3(PLEC):c.7726C>T (p.Leu2576=) rs11988293 0.05812
NM_201384.3(PLEC):c.5865G>A (p.Ala1955=) rs62642469 0.05798
NM_203447.4(DOCK8):c.3230G>A (p.Ser1077Asn) rs34627722 0.05757
NM_000535.7(PMS2):c.1454C>A (p.Thr485Lys) rs1805323 0.05742
NM_006393.3(NEBL):c.1051A>G (p.Met351Val) rs4025981 0.05741
NM_032119.4(ADGRV1):c.4506C>T (p.Pro1502=) rs17543819 0.05741
NM_201384.3(PLEC):c.7878G>A (p.Leu2626=) rs34803322 0.05741
NM_001267550.2(TTN):c.7174G>A (p.Gly2392Ser) rs4894048 0.05739
NM_001267550.2(TTN):c.107267T>C (p.Val35756Ala) rs16866378 0.05725
NM_002458.3(MUC5B):c.15861A>G (p.Pro5287=) rs56344012 0.05669
NM_032119.4(ADGRV1):c.8291C>T (p.Ser2764Leu) rs16869016 0.05655
NM_006393.3(NEBL):c.1962T>A (p.Asn654Lys) rs4748728 0.05648
NM_001267550.2(TTN):c.19301G>A (p.Ser6434Asn) rs11888217 0.05644
NM_001256715.2(DNAAF3):c.1001T>C (p.Leu334Pro) rs890871 0.05642
NM_001256715.2(DNAAF3):c.327A>G (p.Arg109=) rs3848618 0.05626
NM_001256715.2(DNAAF3):c.529G>A (p.Gly177Ser) rs58824375 0.05620
NM_013382.7(POMT2):c.162G>T (p.Ala54=) rs2270420 0.05519
NM_006393.3(NEBL):c.1132G>C (p.Asp378His) rs41277370 0.05503
NM_000231.3(SGCG):c.*13C>T rs9510701 0.05421
NM_000431.4(MVK):c.405G>A (p.Ser135=) rs34368092 0.05306
NM_001848.3(COL6A1):c.347G>A (p.Ser116Asn) rs11553519 0.05277
NM_201384.3(PLEC):c.9101C>T (p.Ala3034Val) rs35858667 0.05256
NM_003036.4(SKI):c.185C>G (p.Ala62Gly) rs28384811 0.05253
NM_201384.3(PLEC):c.8025C>T (p.Gly2675=) rs35139934 0.05241
NM_001317778.2(SFTPC):c.201+14G>A rs8192327 0.05091
NM_001267550.2(TTN):c.8919C>G (p.Ser2973=) rs4894045 0.05021
NM_001267550.2(TTN):c.9461A>G (p.Lys3154Arg) rs4893853 0.05020
NM_197947.3(CLEC7A):c.714T>G (p.Tyr238Ter) rs16910526 0.04986
NM_006005.3(WFS1):c.1367G>A (p.Arg456His) rs1801208 0.04977
NM_000218.3(KCNQ1):c.478-10G>A rs28730752 0.04910
NM_001164508.2(NEB):c.5971C>T (p.His1991Tyr) rs75807392 0.04908
NM_001267550.2(TTN):c.8492G>A (p.Ser2831Asn) rs2306636 0.04907
NM_001232.4(CASQ2):c.1194T>C (p.Asp398=) rs28730711 0.04871
NM_201384.3(PLEC):c.2613-7C>A rs11990994 0.04852
NM_000548.5(TSC2):c.1578C>T (p.Ser526=) rs34012042 0.04830
NM_001267550.2(TTN):c.7830G>C (p.Met2610Ile) rs56142888 0.04798
NM_000214.3(JAG1):c.2612C>G (p.Pro871Arg) rs35761929 0.04795
NM_001267550.2(TTN):c.4715G>A (p.Arg1572Gln) rs12476289 0.04792
NM_206933.4(USH2A):c.8656C>T (p.Leu2886Phe) rs41277200 0.04760
NM_020549.5(CHAT):c.727C>T (p.Leu243Phe) rs8178990 0.04717
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950 0.04695
NM_003690.5(PRKRA):c.1A>C (p.Met1Leu) rs9406386 0.04659
NM_000540.3(RYR1):c.13317C>T (p.Ala4439=) rs113579185 0.04642
NM_002230.4(JUP):c.1653+10C>A rs73983658 0.04634
NM_001114753.3(ENG):c.14C>T (p.Thr5Met) rs35400405 0.04608
NM_057176.3(BSND):c.127G>A (p.Val43Ile) rs34561376 0.04587
NM_032119.4(ADGRV1):c.14905T>C (p.Trp4969Arg) rs7729495 0.04586
NM_201384.3(PLEC):c.11601C>T (p.Asp3867=) rs75833626 0.04561
NM_001267550.2(TTN):c.88272G>A (p.Glu29424=) rs9808036 0.04549
NM_003721.4(RFXANK):c.144G>C (p.Glu48Asp) rs34282046 0.04400
NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly) rs17154335 0.04399
NM_000492.4(CFTR):c.-8G>C rs1800501 0.04368
NM_032122.5(DTNBP1):c.814C>T (p.Pro272Ser) rs17470454 0.04338
NM_003283.6(TNNT1):c.33-8G>A rs76630067 0.04332
NM_000601.6(HGF):c.910G>A (p.Glu304Lys) rs5745687 0.04328
NM_001164508.2(NEB):c.20192A>T (p.Asp6731Val) rs2288200 0.04316
NM_000337.6(SGCD):c.290G>A (p.Arg97Gln) rs45559835 0.04292
NM_201384.3(PLEC):c.10014C>T (p.Val3338=) rs35775257 0.04275
NM_001105206.3(LAMA4):c.460C>T (p.Arg154Trp) rs11757455 0.04245
NM_001077365.2(POMT1):c.913G>A (p.Val305Ile) rs4740164 0.04243
NM_001614.5(ACTG1):c.1026T>C (p.Gly342=) rs1139406 0.04214
NM_000540.3(RYR1):c.13671C>G (p.Ser4557=) rs35959206 0.04188
NM_001614.5(ACTG1):c.1014G>A (p.Ser338=) rs1139807 0.04188
NM_032119.4(ADGRV1):c.18475A>G (p.Met6159Val) rs77469944 0.04185
NM_017780.4(CHD7):c.7356A>G (p.Thr2452=) rs2272727 0.04082
NM_001267550.2(TTN):c.28313G>A (p.Arg9438Gln) rs72648998 0.04075
NM_001267550.2(TTN):c.105782C>T (p.Pro35261Leu) rs16866380 0.04073
NM_001267550.2(TTN):c.76343G>A (p.Ser25448Asn) rs3813243 0.04071
NM_001164508.2(NEB):c.20598C>G (p.Gly6866=) rs16830192 0.04050
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu) rs45583140 0.04021
NM_005957.5(MTHFR):c.1781G>A (p.Arg594Gln) rs2274976 0.03996
NM_173477.5(USH1G):c.388A>G (p.Lys130Glu) rs111033465 0.03966
NM_001267550.2(TTN):c.98912G>A (p.Arg32971His) rs4894028 0.03961
NM_201384.3(PLEC):c.5583G>A (p.Ala1861=) rs75586449 0.03960
NM_139343.3(BIN1):c.894G>A (p.Ser298=) rs2228955 0.03955
NM_002474.3(MYH11):c.3866T>C (p.Val1289Ala) rs16967510 0.03954
NM_001267550.2(TTN):c.49731T>C (p.His16577=) rs2115558 0.03943
NM_001267550.2(TTN):c.102833G>T (p.Gly34278Val) rs3731752 0.03923
NM_002230.4(JUP):c.425G>A (p.Arg142His) rs41283425 0.03910
NM_001164508.2(NEB):c.25395T>G (p.Ser8465=) rs13031275 0.03886
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426 0.03864
NM_022124.6(CDH23):c.6847G>A (p.Val2283Ile) rs41281334 0.03832
NM_201384.3(PLEC):c.11089C>T (p.Leu3697=) rs17062686 0.03808
NM_032119.4(ADGRV1):c.14029T>C (p.Phe4677Leu) rs62000408 0.03806
NM_020975.6(RET):c.2508C>T (p.Ser836=) rs1800862 0.03791
NM_001267550.2(TTN):c.100579G>A (p.Val33527Ile) rs2278196 0.03742
NM_201384.3(PLEC):c.718+10C>T rs12545876 0.03717
NM_022124.6(CDH23):c.4310G>A (p.Arg1437Gln) rs56181447 0.03706
NM_032119.4(ADGRV1):c.12927G>A (p.Ala4309=) rs35092519 0.03705
NM_001267550.2(TTN):c.51482C>T (p.Ala17161Val) rs16866412 0.03700
NM_201384.3(PLEC):c.6314C>T (p.Ala2105Val) rs74772299 0.03697
NM_000195.5(HPS1):c.11T>C (p.Val4Ala) rs58548334 0.03653
NM_001267550.2(TTN):c.30952G>A (p.Glu10318Lys) rs73038324 0.03639
NM_001308093.3(GATA4):c.1059C>T (p.Asn353=) rs3729855 0.03634
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_001164508.2(NEB):c.16762T>A (p.Ser5588Thr) rs35227368 0.03610
NM_017668.3(NDE1):c.948-5739G>A rs34839877 0.03595
NM_022081.6(HPS4):c.558G>A (p.Ser186=) rs13054747 0.03591
NM_001267550.2(TTN):c.48996G>A (p.Glu16332=) rs72677244 0.03561
NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) rs72546667 0.03558
NM_144997.7(FLCN):c.1233G>A (p.Glu411=) rs61750032 0.03557
NM_001267550.2(TTN):c.69145A>G (p.Ile23049Val) rs72646881 0.03550
NM_001267550.2(TTN):c.93901G>A (p.Val31301Ile) rs67665715 0.03523
NM_000180.4(GUCY2D):c.2101C>T (p.Pro701Ser) rs34598902 0.03505
NM_001267550.2(TTN):c.82798G>A (p.Ala27600Thr) rs11896637 0.03502
NM_001267550.2(TTN):c.4177A>G (p.Ile1393Val) rs16866531 0.03468
NM_032119.4(ADGRV1):c.6289C>T (p.Arg2097Cys) rs16868974 0.03455
NM_181741.4(ORC4):c.166C>G (p.Leu56Val) rs2307397 0.03439
NM_012452.3(TNFRSF13B):c.291T>G (p.Pro97=) rs35062843 0.03423
NM_001458.5(FLNC):c.3838C>T (p.Leu1280=) rs34180031 0.03419
NM_003126.4(SPTA1):c.2909C>A (p.Ala970Asp) rs35948326 0.03419
NM_001101.5(ACTB):c.942G>A (p.Gln314=) rs11546939 0.03418
NM_001267550.2(TTN):c.105180G>C (p.Glu35060Asp) rs56308529 0.03418
NM_005902.4(SMAD3):c.508A>G (p.Ile170Val) rs35874463 0.03414
NM_002354.3(EPCAM):c.904-12T>C rs62139669 0.03374
NM_000363.5(TNNI3):c.198G>A (p.Glu66=) rs3729710 0.03372
NM_001034853.2(RPGR):c.223A>G (p.Ile75Val) rs111631988 0.03363
NM_000257.4(MYH7):c.1605A>G (p.Glu535=) rs2069543 0.03319
NM_001710.6(CFB):c.26T>A (p.Leu9His) rs4151667 0.03314
NM_001999.4(FBN2):c.203C>T (p.Ala68Val) rs62390671 0.03303
NM_001130987.2(DYSF):c.1914C>T (p.Tyr638=) rs35721373 0.03282
NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys) rs35829419 0.03262
NM_032383.5(HPS3):c.1479G>A (p.Thr493=) rs34197730 0.03245
NM_033380.3(COL4A5):c.3519T>G (p.Gly1173=) rs61735627 0.03239
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_032119.4(ADGRV1):c.10872A>G (p.Gln3624=) rs17624033 0.03213
NM_003476.5(CSRP3):c.150G>A (p.Ala50=) rs7124801 0.03207
NM_000051.4(ATM):c.4578C>T (p.Pro1526=) rs1800889 0.03196
NM_022367.4(SEMA4A):c.2138G>A (p.Arg713Gln) rs41265017 0.03176
NM_014476.6(PDLIM3):c.678G>A (p.Ser226=) rs34943562 0.03158
NM_032119.4(ADGRV1):c.16248C>T (p.Val5416=) rs3763073 0.03149
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045 0.03116
NM_002474.3(MYH11):c.5370C>T (p.Leu1790=) rs35295469 0.03116
NM_000130.5(F5):c.6443T>C (p.Met2148Thr) rs9332701 0.03115
NM_000540.3(RYR1):c.2871-5C>T rs45585535 0.03110
NM_001369369.1(FOXN1):c.1288C>T (p.Pro430Ser) rs61749867 0.03097
NM_032119.4(ADGRV1):c.13232-7A>G rs2438358 0.03097
NM_032119.4(ADGRV1):c.380T>G (p.Leu127Arg) rs41311333 0.03061
NM_144672.4(OTOA):c.2229C>T (p.Ala743=) rs461179 0.03046
NM_000540.3(RYR1):c.7260C>T (p.His2420=) rs12973632 0.03031
NM_004415.4(DSP):c.423-16_423-15insC rs113028223 0.03015
NM_002474.3(MYH11):c.792T>C (p.Tyr264=) rs34341838 0.03006
NM_014009.4(FOXP3):c.543C>T (p.Ser181=) rs2232367 0.03006
NM_001458.5(FLNC):c.1614C>T (p.Tyr538=) rs76046880 0.02993
NM_212550.5(BLOC1S3):c.322C>G (p.Leu108Val) rs75792246 0.02993
NM_014476.6(PDLIM3):c.379G>A (p.Val127Met) rs11944325 0.02959
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580 0.02950
NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp) rs2066844 0.02936
NM_001267550.2(TTN):c.20861C>T (p.Ala6954Val) rs17355446 0.02915
NM_006005.3(WFS1):c.1805C>T (p.Ala602Val) rs2230720 0.02889
NM_000081.4(LYST):c.7137A>C (p.Leu2379=) rs61738992 0.02884
NM_001267550.2(TTN):c.32393-12A>G rs16866434 0.02884
NM_001927.4(DES):c.669T>C (p.Ile223=) rs75882680 0.02876
NM_000531.6(OTC):c.809A>G (p.Gln270Arg) rs1800328 0.02868
NM_000091.5(COL4A3):c.805G>A (p.Glu269Lys) rs80109666 0.02845
NM_181523.3(PIK3R1):c.621T>C (p.Ile207=) rs61749601 0.02836
NM_006208.3(ENPP1):c.2320C>T (p.Arg774Cys) rs28933977 0.02826
NM_001164508.2(NEB):c.4407G>C (p.Glu1469Asp) rs34800215 0.02813
NM_001458.5(FLNC):c.2390-13C>T rs78086167 0.02800
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val) rs35947132 0.02791
NM_020451.3(SELENON):c.981C>T (p.Arg327=) rs147587542 0.02788
NM_001458.5(FLNC):c.5669-12C>T rs79790270 0.02786
NM_000092.5(COL4A4):c.948T>C (p.Tyr316=) rs34509421 0.02777
NM_004006.3(DMD):c.6463C>T (p.Arg2155Trp) rs1800273 0.02767
NM_130849.4(SLC39A4):c.251C>T (p.Pro84Leu) rs117535951 0.02765
NM_194248.3(OTOF):c.158C>T (p.Ala53Val) rs1879761 0.02762
NM_001039876.3(SYNE4):c.523G>C (p.Ala175Pro) rs77925409 0.02760
NM_020975.6(RET):c.1264-5C>T rs9282835 0.02749
NM_000514.4(GDNF):c.429G>A (p.Arg143=) rs36010631 0.02743
NM_020223.4(FAM20C):c.1218T>A (p.Pro406=) rs144007479 0.02734
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile) rs34526199 0.02732
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) rs2307441 0.02704
NM_000092.5(COL4A4):c.2276C>T (p.Pro759Leu) rs36121515 0.02697
NM_001927.4(DES):c.408C>T (p.Leu136=) rs111828114 0.02697
NM_007078.3(LDB3):c.1074C>T (p.Ala358=) rs45459491 0.02688
NM_004415.4(DSP):c.913A>T (p.Ile305Phe) rs17604693 0.02655
NM_000080.4(CHRNE):c.53G>T (p.Gly18Val) rs4790235 0.02635
NM_004415.4(DSP):c.1903+7T>C rs28763962 0.02605
NM_000091.5(COL4A3):c.4041C>A (p.Asp1347Glu) rs73996414 0.02579
NM_016038.4(SBDS):c.635T>C (p.Ile212Thr) rs79344818 0.02573
NM_004006.3(DMD):c.2623-11C>G rs1028360 0.02567
NM_024334.3(TMEM43):c.163-14C>T rs113745859 0.02553
NM_001035.3(RYR2):c.8437-7dup rs148246251 0.02544
NM_003719.5(PDE8B):c.1366-5G>A rs79008179 0.02537
NM_001267550.2(TTN):c.25398T>A (p.Asp8466Glu) rs72648986 0.02522
NM_001232.4(CASQ2):c.731A>G (p.His244Arg) rs28730716 0.02511
NM_001127198.5(TMC6):c.2021+11C>T rs143140501 0.02510
NM_001692.4(ATP6V1B1):c.481G>A (p.Glu161Lys) rs114234874 0.02502
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met) rs74902811 0.02492
NM_000214.3(JAG1):c.270G>T (p.Gly90=) rs114048678 0.02490
NM_001130987.2(DYSF):c.2856G>A (p.Pro952=) rs34836829 0.02488
NM_201384.3(PLEC):c.5229G>A (p.Ala1743=) rs140406501 0.02486
NM_001101426.4(CRPPA):c.407C>T (p.Ala136Val) rs61734789 0.02478
NM_020877.5(DNAH2):c.12974C>G (p.Pro4325Arg) rs116930996 0.02472
NM_175914.5(HNF4A):c.350C>T (p.Thr117Ile) rs1800961 0.02469
NM_032119.4(ADGRV1):c.9771C>T (p.Ser3257=) rs16869039 0.02440
NM_181507.2(HPS5):c.3293C>T (p.Thr1098Ile) rs61884288 0.02435
NM_001267550.2(TTN):c.178G>T (p.Asp60Tyr) rs35683768 0.02431
NM_014476.6(PDLIM3):c.42C>T (p.Gly14=) rs116775669 0.02423
NM_000138.5(FBN1):c.6888G>A (p.Gln2296=) rs363830 0.02418
NM_000091.5(COL4A3):c.933+14T>C rs55928538 0.02412
NM_001267550.2(TTN):c.45526C>T (p.Leu15176=) rs61004744 0.02387
NM_001164508.2(NEB):c.612+8T>C rs113095802 0.02379
NM_032119.4(ADGRV1):c.327C>T (p.Asp109=) rs61753944 0.02377
NM_001267550.2(TTN):c.22786G>C (p.Asp7596His) rs72648970 0.02369
NM_000214.3(JAG1):c.924C>T (p.Asn308=) rs45575136 0.02367
NM_001267550.2(TTN):c.65147C>T (p.Ser21716Leu) rs13021201 0.02363
NM_032119.4(ADGRV1):c.8876G>A (p.Arg2959Gln) rs73175207 0.02358
NM_001377.3(DYNC2H1):c.4728C>G (p.Asn1576Lys) rs72989738 0.02353
NM_001267550.2(TTN):c.52917T>C (p.Asp17639=) rs73036398 0.02352
NM_000395.3(CSF2RB):c.2400G>A (p.Pro800=) rs1801116 0.02350
NM_001035.3(RYR2):c.9449+8T>A rs60777199 0.02348
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr) rs2020873 0.02345
NM_032119.4(ADGRV1):c.11472G>A (p.Leu3824=) rs74327115 0.02341
NM_020778.5(ALPK3):c.3628C>T (p.Arg1210Trp) rs55752937 0.02339
NM_032119.4(ADGRV1):c.10577T>C (p.Met3526Thr) rs41311343 0.02332
NM_133379.5(TTN):c.13476C>T (p.Asp4492=) rs72648904 0.02326
NM_001122659.3(EDNRB):c.*1767C>T rs3027092 0.02325
NM_000138.5(FBN1):c.7819+8A>C rs363838 0.02324
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser) rs17217772 0.02317
NM_000501.4(ELN):c.2086+5G>C rs111866046 0.02303
NM_001378454.1(ALMS1):c.11054G>A (p.Ser3685Asn) rs11896293 0.02293
NM_001199107.2(TBC1D24):c.1440G>A (p.Ser480=) rs12373107 0.02286
NM_001204.7(BMPR2):c.2324G>A (p.Ser775Asn) rs2228545 0.02286
NM_000092.5(COL4A4):c.1781A>G (p.Glu594Gly) rs35998949 0.02275
NM_203447.4(DOCK8):c.709G>A (p.Glu237Lys) rs11789099 0.02275
NM_002834.5(PTPN11):c.255C>T (p.His85=) rs61736914 0.02271
NM_000548.5(TSC2):c.4983C>T (p.Thr1661=) rs35534817 0.02253
NM_015340.4(LARS2):c.972C>A (p.His324Gln) rs71645922 0.02237
NM_001164508.2(NEB):c.8466C>T (p.His2822=) rs61730771 0.02236
NM_032119.4(ADGRV1):c.7229A>G (p.Tyr2410Cys) rs111033430 0.02235
NM_005173.4(ATP2A3):c.2020C>T (p.Arg674Cys) rs9895012 0.02226
NM_004004.6(GJB2):c.79G>A (p.Val27Ile) rs2274084 0.02218
NM_000548.5(TSC2):c.3915G>A (p.Pro1305=) rs11551373 0.02216
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962 0.02208
NM_001077365.2(POMT1):c.1692G>A (p.Arg564=) rs34954751 0.02208
NM_004006.3(DMD):c.8762A>G (p.His2921Arg) rs1800279 0.02191
NM_005373.3(MPL):c.340G>A (p.Val114Met) rs12731981 0.02191
NM_001267550.2(TTN):c.41508T>C (p.Ala13836=) rs55847232 0.02188
NM_016203.4(PRKAG2):c.59G>T (p.Ser20Ile) rs116605521 0.02188
NM_001267550.2(TTN):c.45738T>C (p.Ala15246=) rs2303829 0.02187
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln) rs45532440 0.02171
NM_001267550.2(TTN):c.15717G>A (p.Thr5239=) rs72648932 0.02158
NM_001267550.2(TTN):c.93387C>T (p.Ser31129=) rs35445420 0.02143
NM_001267550.2(TTN):c.100096G>A (p.Val33366Ile) rs55675869 0.02132
NM_001364905.1(LRBA):c.5989C>T (p.Arg1997Cys) rs35879351 0.02129
NM_001927.4(DES):c.1026C>T (p.Asn342=) rs61731508 0.02125
NM_001232.4(CASQ2):c.1014+9C>T rs77775029 0.02121
NM_004006.3(DMD):c.4878G>T (p.Val1626=) rs61733574 0.02120
NM_001232.4(CASQ2):c.1005T>C (p.Asn335=) rs28730712 0.02116
NM_001267550.2(TTN):c.43488G>A (p.Arg14496=) rs56034831 0.02114
NM_001164508.2(NEB):c.7310G>A (p.Arg2437Gln) rs61730780 0.02113
NM_001267550.2(TTN):c.12117C>T (p.Pro4039=) rs55895721 0.02109
NM_001267550.2(TTN):c.67635T>C (p.Val22545=) rs2288570 0.02106
NM_001378454.1(ALMS1):c.11266G>A (p.Gly3756Ser) rs34927702 0.02105
NM_020433.5(JPH2):c.1289-7C>T rs116986535 0.02105
NM_001079802.2(FKTN):c.166C>T (p.Arg56Cys) rs41277797 0.02093
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala) rs34258285 0.02088
NM_004006.3(DMD):c.5016T>A (p.Asn1672Lys) rs16990264 0.02084
NM_005144.5(HR):c.1859G>A (p.Arg620Gln) rs117197822 0.02084
NM_001267550.2(TTN):c.42071A>G (p.His14024Arg) rs2288563 0.02080
NM_001130987.2(DYSF):c.4122C>T (p.Ser1374=) rs2303607 0.02075
NM_001267550.2(TTN):c.53123A>T (p.Lys17708Ile) rs2303832 0.02072
NM_001267550.2(TTN):c.24880A>G (p.Arg8294Gly) rs72648982 0.02056
NM_001267550.2(TTN):c.51684G>A (p.Ala17228=) rs2288566 0.02055
NM_001199107.2(TBC1D24):c.1143-6C>T rs73490287 0.02047
NM_001034853.2(RPGR):c.3231T>A (p.Asn1077Lys) rs62636730 0.02044
NM_012106.4(ARL2BP):c.259G>A (p.Glu87Lys) rs7198865 0.02043
NM_001160179.2(NAT1):c.445G>A (p.Val149Ile) rs4987076 0.02032
NM_032119.4(ADGRV1):c.581C>A (p.Pro194His) rs61745498 0.02028
NM_001034853.2(RPGR):c.1598C>T (p.Thr533Met) rs41312104 0.02014
NM_001267550.2(TTN):c.86811A>G (p.Val28937=) rs55972010 0.02012
NM_001267550.2(TTN):c.92901C>T (p.Ser30967=) rs11694623 0.01999
NM_001267550.2(TTN):c.87669T>C (p.His29223=) rs72648229 0.01997
NM_001267550.2(TTN):c.87087T>C (p.Leu29029=) rs12621078 0.01996
NM_001267550.2(TTN):c.76720T>C (p.Tyr25574His) rs3813245 0.01993
NM_033118.4(MYLK2):c.1082+11G>A rs76530988 0.01993
NM_001267550.2(TTN):c.77638A>G (p.Thr25880Ala) rs56018860 0.01992
NM_001267550.2(TTN):c.91852+8T>A rs56145100 0.01992
NM_001267550.2(TTN):c.95047A>G (p.Ser31683Gly) rs72648257 0.01992
NM_001267550.2(TTN):c.79265T>C (p.Ile26422Thr) rs3731745 0.01991
NM_206933.4(USH2A):c.6713A>C (p.Glu2238Ala) rs41277212 0.01991
NM_001267550.2(TTN):c.77279A>G (p.Asn25760Ser) rs3813246 0.01989
NM_001267550.2(TTN):c.80799C>A (p.Thr26933=) rs3813247 0.01986
NM_001267550.2(TTN):c.83056G>A (p.Val27686Ile) rs56309296 0.01985
NM_001267550.2(TTN):c.81958G>A (p.Ala27320Thr) rs56365600 0.01984
NM_001267550.2(TTN):c.84352C>T (p.Arg28118Cys) rs56057221 0.01984
NM_017637.6(BNC2):c.2768C>T (p.Ala923Val) rs117452684 0.01981
NM_001267550.2(TTN):c.95553C>T (p.Ser31851=) rs72648260 0.01980
NM_001267550.2(TTN):c.81855C>T (p.Ile27285=) rs56214710 0.01979
NM_032119.4(ADGRV1):c.7576A>G (p.Ile2526Val) rs75191159 0.01965
NM_006915.3(RP2):c.844C>T (p.Arg282Trp) rs1805147 0.01957
NM_001267550.2(TTN):c.18903C>T (p.Thr6301=) rs72648950 0.01956
NM_000237.3(LPL):c.106G>A (p.Asp36Asn) rs1801177 0.01951
NM_001927.4(DES):c.372G>A (p.Glu124=) rs34365369 0.01950
NM_173628.4(DNAH17):c.12854G>A (p.Arg4285Gln) rs35973257 0.01936
NM_153700.2(STRC):c.3360T>C (p.Cys1120=) rs56385906 0.01920
NM_001267550.2(TTN):c.29812A>T (p.Thr9938Ser) rs72650006 0.01917
NM_201384.3(PLEC):c.342+13G>A rs115664009 0.01917
NM_001103.4(ACTN2):c.1810A>G (p.Met604Val) rs35997569 0.01914
NM_133379.5(TTN):c.13869T>G (p.Ser4623=) rs72648906 0.01910
NM_032638.5(GATA2):c.1233G>A (p.Ala411=) rs34172218 0.01909
NM_032119.4(ADGRV1):c.12592G>A (p.Val4198Met) rs2460169 0.01906
NM_001005242.3(PKP2):c.209G>T (p.Ser70Ile) rs75909145 0.01900
NM_002617.4(PEX10):c.820A>G (p.Thr274Ala) rs34154371 0.01899
NM_080680.3(COL11A2):c.5165C>T (p.Pro1722Leu) rs2229792 0.01881
NM_001267550.2(TTN):c.24909G>A (p.Lys8303=) rs72648983 0.01872
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_014476.6(PDLIM3):c.734C>T (p.Thr245Ile) rs62347360 0.01871
NM_000257.4(MYH7):c.975C>T (p.Asp325=) rs2231124 0.01865
NM_001999.4(FBN2):c.3015G>A (p.Leu1005=) rs28763946 0.01862
NM_017950.4(CCDC40):c.2255T>C (p.Leu752Pro) rs117203086 0.01848
NM_032578.4(MYPN):c.2410G>A (p.Gly804Arg) rs62620248 0.01839
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117 0.01834
NM_001267550.2(TTN):c.45206A>T (p.Glu15069Val) rs114331773 0.01832
NM_001267550.2(TTN):c.10850C>T (p.Ser3617Phe) rs57389274 0.01798
NM_001039.4(SCNN1G):c.636C>T (p.Ser212=) rs5739 0.01794
NM_001378454.1(ALMS1):c.4154C>G (p.Thr1385Arg) rs115517108 0.01785
NM_001267550.2(TTN):c.542G>A (p.Ser181Asn) rs72647843 0.01782
NM_001378454.1(ALMS1):c.10303A>G (p.Lys3435Glu) rs34071195 0.01772
NM_001035.3(RYR2):c.5654G>A (p.Gly1885Glu) rs41315858 0.01767
NM_001267550.2(TTN):c.22611T>C (p.His7537=) rs16866469 0.01765
NM_016335.6(PRODH):c.1357C>T (p.Arg453Cys) rs3970559 0.01765
NM_001164508.2(NEB):c.8318G>A (p.Arg2773Gln) rs35974308 0.01764
NM_152732.5(RSPH9):c.671-4259C>T rs41281830 0.01763
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025 0.01762
NM_001256789.3(CACNA1F):c.1523G>A (p.Arg508Gln) rs34162630 0.01756
NM_000092.5(COL4A4):c.2899A>G (p.Ile967Val) rs80243096 0.01747
NM_030787.4(CFHR5):c.1067G>A (p.Arg356His) rs35662416 0.01746
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser) rs146934311 0.01744
NM_001035.3(RYR2):c.14421C>T (p.Asp4807=) rs75206601 0.01733
NR_001566.1(TERC):n.58G>A rs113487931 0.01733
NM_001164508.2(NEB):c.23381C>T (p.Ser7794Leu) rs41270201 0.01730
NM_001267550.2(TTN):c.96944C>T (p.Thr32315Ile) rs56027402 0.01724
NM_133379.5(TTN):c.13165G>A (p.Val4389Ile) rs72648903 0.01724
NM_003476.5(CSRP3):c.312C>G (p.Thr104=) rs45582433 0.01721
NM_001105206.3(LAMA4):c.280G>A (p.Gly94Ser) rs35349917 0.01717
NM_001378454.1(ALMS1):c.671C>A (p.Pro224His) rs11889925 0.01714
NM_001267550.2(TTN):c.21106G>A (p.Asp7036Asn) rs72648962 0.01709
NM_173630.4(RTTN):c.2055+7C>T rs117843366 0.01697
NM_001164508.2(NEB):c.21856G>A (p.Asp7286Asn) rs35625617 0.01691
NM_001130987.2(DYSF):c.1785G>A (p.Ala595=) rs35984374 0.01679
NM_032119.4(ADGRV1):c.1652T>C (p.Val551Ala) rs6889939 0.01679
NM_001267550.2(TTN):c.1492G>A (p.Val498Ile) rs72647851 0.01678
NM_032119.4(ADGRV1):c.7813T>G (p.Leu2605Val) rs79915053 0.01674
NM_007078.3(LDB3):c.752A>G (p.Lys251Arg) rs34423165 0.01671
NM_001267550.2(TTN):c.25936C>T (p.Arg8646Cys) rs72648987 0.01656
NM_018897.3(DNAH7):c.6161A>G (p.Tyr2054Cys) rs62623377 0.01654
NM_001038.6(SCNN1A):c.1477T>C (p.Trp493Arg) rs5742912 0.01653
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile) rs1805324 0.01651
NM_001267550.2(TTN):c.19204A>G (p.Met6402Val) rs72648954 0.01649
NM_001378454.1(ALMS1):c.1871A>G (p.His624Arg) rs41291187 0.01638
NM_201384.3(PLEC):c.9945C>T (p.Ser3315=) rs28657061 0.01636
NM_001267550.2(TTN):c.98164A>T (p.Ile32722Phe) rs72648270 0.01635
NM_000071.3(CBS):c.*540G>A rs111386779 0.01634
NM_001267550.2(TTN):c.101803A>G (p.Ile33935Val) rs56376197 0.01633
NM_033337.3(CAV3):c.171G>A (p.Val57=) rs61147808 0.01628
NM_001145809.2(MYH14):c.483G>A (p.Met161Ile) rs34773557 0.01615
NM_001267550.2(TTN):c.8467G>T (p.Val2823Phe) rs33917087 0.01611
NM_016239.4(MYO15A):c.2238G>T (p.Arg746Ser) rs79760961 0.01604
NM_032495.6(HOPX):c.87G>A (p.Glu29=) rs11555052 0.01597
NM_000540.3(RYR1):c.11547G>A (p.Gln3849=) rs142518033 0.01592
NM_212550.5(BLOC1S3):c.366C>T (p.His122=) rs571269735 0.01592
NM_002230.4(JUP):c.867C>T (p.Thr289=) rs2230407 0.01591
NM_001267550.2(TTN):c.62178T>C (p.Thr20726=) rs72646847 0.01577
NM_001614.5(ACTG1):c.399C>T (p.Tyr133=) rs2230158 0.01567
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558 0.01567
NM_001614.5(ACTG1):c.729C>T (p.Pro243=) rs2230159 0.01563
NM_194248.3(OTOF):c.3751T>G (p.Cys1251Gly) rs41288773 0.01560
NM_001267550.2(TTN):c.4246C>T (p.Arg1416Cys) rs72647875 0.01559
NM_006073.4(TRDN):c.1620A>G (p.Ile540Met) rs7771303 0.01556
NM_007078.3(LDB3):c.609G>A (p.Ser203=) rs45531131 0.01554
NM_194248.3(OTOF):c.2317C>T (p.Arg773Cys) rs80356569 0.01549
NM_001267550.2(TTN):c.106476T>C (p.Cys35492=) rs6725673 0.01548
NM_001378454.1(ALMS1):c.5359A>G (p.Asn1787Asp) rs45608038 0.01548
NM_001105206.3(LAMA4):c.4646A>G (p.Asn1549Ser) rs12110554 0.01544
NM_194248.3(OTOF):c.4767C>T (p.Arg1589=) rs80356578 0.01544
NM_001267550.2(TTN):c.74972T>C (p.Ile24991Thr) rs744427 0.01542
NM_005411.5(SFTPA1):c.606C>T (p.Asp202=) rs1059058 0.01532
NM_001035.3(RYR2):c.4198A>G (p.Ser1400Gly) rs56229512 0.01531
NM_002473.6(MYH9):c.3838-12C>T rs113698937 0.01529
NM_001378454.1(ALMS1):c.1144A>G (p.Thr382Ala) rs28730849 0.01527
NM_032119.4(ADGRV1):c.11481T>C (p.Asp3827=) rs16869083 0.01524
NM_001267550.2(TTN):c.18390A>T (p.Thr6130=) rs66523653 0.01518
NM_194248.3(OTOF):c.2464C>T (p.Arg822Trp) rs80356570 0.01518
NM_001038.6(SCNN1A):c.978C>T (p.Asn326=) rs61731141 0.01509
NM_001369.3(DNAH5):c.3301G>A (p.Val1101Met) rs61747516 0.01505
NM_024996.7(GFM1):c.1990G>A (p.Val664Ile) rs62288347 0.01504
NM_001267550.2(TTN):c.65743C>A (p.Gln21915Lys) rs62618736 0.01503
NM_000520.6(HEXA):c.672+30T>G rs117160567 0.01494
NM_006005.3(WFS1):c.2469C>T (p.Ile823=) rs1801215 0.01494
NM_020297.4(ABCC9):c.1848C>T (p.Asp616=) rs61001398 0.01493
NM_001139.3(ALOX12B):c.379C>T (p.Pro127Ser) rs72842957 0.01485
NM_001715.3(BLK):c.211G>A (p.Ala71Thr) rs55758736 0.01485
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
NM_001267550.2(TTN):c.80635C>A (p.Gln26879Lys) rs79926414 0.01477
NM_206933.4(USH2A):c.2109T>C (p.Asp703=) rs45555435 0.01476
NM_001369.3(DNAH5):c.3241A>G (p.Met1081Val) rs16902880 0.01472
NM_201384.3(PLEC):c.1706G>A (p.Arg569Gln) rs3135103 0.01472
NM_000085.5(CLCNKB):c.1877G>A (p.Cys626Tyr) rs143663847 0.01456
NM_001267550.2(TTN):c.79783G>C (p.Asp26595His) rs56307213 0.01455
NM_006208.3(ENPP1):c.1831C>G (p.Leu611Val) rs79079368 0.01455
NM_201384.3(PLEC):c.13205C>T (p.Thr4402Met) rs113513807 0.01455
NM_003664.5(AP3B1):c.339A>C (p.Ala113=) rs7706167 0.01450
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser) rs17154353 0.01449
NM_000257.4(MYH7):c.4716C>T (p.Ile1572=) rs7140196 0.01445
NM_001276345.2(TNNT2):c.163+12G>A rs45580032 0.01441
NM_144672.4(OTOA):c.2382G>A (p.Gln794=) rs143890524 0.01441
NM_000256.3(MYBPC3):c.2601C>T (p.Ile867=) rs11570097 0.01438
NM_000175.5(GPI):c.623T>C (p.Ile208Thr) rs8191371 0.01437
NM_001114753.3(ENG):c.1794T>C (p.Gly598=) rs41358947 0.01435
NM_006005.3(WFS1):c.9C>T (p.Ser3=) rs71524363 0.01435
NM_201384.3(PLEC):c.8012G>A (p.Arg2671Gln) rs28526657 0.01433
NM_000395.3(CSF2RB):c.2430C>A (p.Pro810=) rs2228092 0.01431
NM_003126.4(SPTA1):c.2373C>A (p.Asp791Glu) rs7418956 0.01431
NM_001267550.2(TTN):c.92191A>G (p.Ile30731Val) rs16866391 0.01426
NM_001267550.2(TTN):c.3993C>T (p.Ile1331=) rs55757622 0.01419
NM_000257.4(MYH7):c.1002C>T (p.Asn334=) rs34803781 0.01418
NM_000256.3(MYBPC3):c.1144C>T (p.Arg382Trp) rs11570076 0.01409
NM_001267550.2(TTN):c.58933C>T (p.Leu19645=) rs2303836 0.01401
NM_002471.4(MYH6):c.3979-7del rs397516766 0.01401
NM_001267550.2(TTN):c.49985A>C (p.Asn16662Thr) rs36043230 0.01390
NM_020247.5(COQ8A):c.993C>T (p.Phe331=) rs41303129 0.01390
NM_032119.4(ADGRV1):c.5304G>A (p.Glu1768=) rs41303346 0.01390
NM_201384.3(PLEC):c.4557G>A (p.Ser1519=) rs79705634 0.01389
NM_000179.3(MSH6):c.1164C>T (p.His388=) rs55708305 0.01384
NM_206933.4(USH2A):c.15091C>T (p.Arg5031Trp) rs56038610 0.01377
NM_001089.3(ABCA3):c.448-14C>G rs62040683 0.01376
NM_201384.3(PLEC):c.6577C>T (p.Leu2193=) rs28610521 0.01376
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) rs35719940 0.01370
NM_000179.3(MSH6):c.2272C>T (p.Leu758=) rs56371757 0.01363
NM_001267550.2(TTN):c.105769G>A (p.Glu35257Lys) rs56324595 0.01363
NM_153676.4(USH1C):c.388G>A (p.Val130Ile) rs55843567 0.01363
NM_000335.5(SCN5A):c.1302C>T (p.Phe434=) rs41313699 0.01360
NM_017780.4(CHD7):c.307T>A (p.Ser103Thr) rs41272435 0.01358
NM_001267550.2(TTN):c.10700G>A (p.Ser3567Asn) rs72955213 0.01357
NM_001267550.2(TTN):c.26245G>A (p.Val8749Ile) rs16866457 0.01351
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg) rs118203576 0.01347
NM_133379.5(TTN):c.13478A>C (p.Lys4493Thr) rs78457662 0.01346
NM_001267550.2(TTN):c.12235A>G (p.Ile4079Val) rs34070843 0.01345
NM_172245.4(CSF2RA):c.425C>T (p.Pro142Leu) rs151058706 0.01345
NM_002471.4(MYH6):c.399G>A (p.Val133=) rs78891557 0.01343
NM_004415.4(DSP):c.4773G>A (p.Arg1591=) rs28763968 0.01341
NM_001277115.2(DNAH11):c.6683+13C>G rs17145077 0.01337
NM_170682.4(P2RX2):c.554+14C>A rs151253585 0.01337
NM_001267550.2(TTN):c.65516C>T (p.Ala21839Val) rs55948748 0.01336
NM_133379.5(TTN):c.13608C>T (p.Ser4536=) rs72648905 0.01336
NM_001035.3(RYR2):c.6928+4G>A rs79862521 0.01335
NM_001277115.2(DNAH11):c.9337-9T>C rs72657378 0.01332
NM_001194.4(HCN2):c.1584+7C>T rs55978915 0.01331
NM_012268.4(PLD3):c.1326G>A (p.Ala442=) rs4819 0.01329
NM_000237.3(LPL):c.953A>G (p.Asn318Ser) rs268 0.01327
NM_000395.3(CSF2RB):c.934G>A (p.Asp312Asn) rs117805308 0.01316
NM_206933.4(USH2A):c.11677C>A (p.Pro3893Thr) rs41303285 0.01316
NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp) rs35730265 0.01315
NM_001369.3(DNAH5):c.5658C>T (p.Tyr1886=) rs6880264 0.01314
NM_000257.4(MYH7):c.1767C>T (p.Asn589=) rs3729816 0.01311
NM_003000.3(SDHB):c.8C>G (p.Ala3Gly) rs11203289 0.01309
NM_001267550.2(TTN):c.2949C>T (p.Ile983=) rs56310516 0.01308
NM_012079.6(DGAT1):c.455A>G (p.Lys152Arg) rs55907012 0.01307
NM_001267550.2(TTN):c.66614G>A (p.Arg22205Lys) rs72646869 0.01305
NM_001289808.2(CRYAB):c.165G>A (p.Leu55=) rs2228387 0.01303
NM_001267550.2(TTN):c.19976C>T (p.Thr6659Met) rs16866475 0.01294
NM_001035.3(RYR2):c.11988C>T (p.Gly3996=) rs56226196 0.01290
NM_201384.3(PLEC):c.2217G>A (p.Gln739=) rs116612406 0.01288
NM_032122.5(DTNBP1):c.811+78C>T rs16876571 0.01287
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047 0.01281
NM_001267550.2(TTN):c.100094G>A (p.Arg33365Gln) rs55742743 0.01280
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln) rs68080670 0.01276
NM_000546.6(TP53):c.639A>G (p.Arg213=) rs1800372 0.01275
NM_000077.5(CDKN2A):c.-25C>T rs144481587 0.01273
NM_031900.4(AGXT2):c.1188+1G>A rs114286107 0.01270
NM_001164508.2(NEB):c.8592T>C (p.Asp2864=) rs61730772 0.01264
NM_001267550.2(TTN):c.23001G>A (p.Thr7667=) rs16866467 0.01263
NM_170682.4(P2RX2):c.1302G>A (p.Pro434=) rs114276183 0.01262
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly) rs1799807 0.01259
NM_001267550.2(TTN):c.4630A>G (p.Ile1544Val) rs72647877 0.01259
NM_001277115.2(DNAH11):c.9102+8G>A rs72657374 0.01255
NM_006073.4(TRDN):c.1096G>A (p.Ala366Thr) rs35047281 0.01253
NM_001904.4(CTNNB1):c.2340C>T (p.Asp780=) rs2293303 0.01246
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser) rs80325569 0.01244
NM_004004.6(GJB2):c.-216T>G rs574815423 0.01243
NM_001267550.2(TTN):c.32648G>A (p.Arg10883Lys) rs116676813 0.01242
NM_006218.4(PIK3CA):c.3075C>T (p.Thr1025=) rs17849079 0.01239
NM_012193.4(FZD4):c.97C>T (p.Pro33Ser) rs61735304 0.01236
NM_001943.5(DSG2):c.217-5G>T rs80073511 0.01232
NM_020451.3(SELENON):c.409A>G (p.Thr137Ala) rs35019869 0.01231
NM_003803.4(MYOM1):c.91C>A (p.Arg31=) rs76382984 0.01227
NM_002755.4(MAP2K1):c.711G>A (p.Gly237=) rs17586159 0.01226
NM_020297.4(ABCC9):c.3321C>T (p.Ile1107=) rs35404804 0.01226
NM_001277115.2(DNAH11):c.12561T>G (p.Asp4187Glu) rs148429731 0.01214
NM_006073.4(TRDN):c.1016G>A (p.Ser339Asn) rs35766971 0.01214
NM_001267550.2(TTN):c.100459C>T (p.Pro33487Ser) rs72629779 0.01213
NM_001267550.2(TTN):c.70696G>C (p.Gly23566Arg) rs55801134 0.01212
NM_004006.3(DMD):c.3021G>A (p.Ser1007=) rs1800268 0.01212
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584 0.01206
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln) rs1800725 0.01203
NM_005379.4(MYO1A):c.1277C>T (p.Pro426Leu) rs4759043 0.01201
NM_033118.4(MYLK2):c.1068C>T (p.Val356=) rs17340492 0.01201
NM_001267550.2(TTN):c.1003G>A (p.Val335Met) rs72647846 0.01195
NM_001384474.1(LOXHD1):c.2080G>T (p.Asp694Tyr) rs35727744 0.01194
NM_001267550.2(TTN):c.98595A>G (p.Glu32865=) rs55977045 0.01192
NM_206933.4(USH2A):c.688G>A (p.Val230Met) rs45500891 0.01191
NM_001277115.2(DNAH11):c.3946A>G (p.Met1316Val) rs17144788 0.01186
NM_001267550.2(TTN):c.11719C>G (p.Leu3907Val) rs55853696 0.01185
NM_001370658.1(BTD):c.1224C>T (p.Tyr408=) rs35145938 0.01185
NM_001267550.2(TTN):c.32254G>A (p.Val10752Ile) rs72650028 0.01184
NM_001267550.2(TTN):c.69585C>T (p.Ser23195=) rs67041405 0.01183
NM_000081.4(LYST):c.9C>T (p.Thr3=) rs33998267 0.01172
NM_001267550.2(TTN):c.20602G>A (p.Gly6868Arg) rs17355460 0.01172
NM_001267550.2(TTN):c.1398+8C>T rs72647848 0.01171
NM_001614.5(ACTG1):c.177G>A (p.Gln59=) rs11549220 0.01161
NM_004415.4(DSP):c.3963G>A (p.Gln1321=) rs61731476 0.01161
NM_000257.4(MYH7):c.3972+15C>T rs3729820 0.01159
NM_001267550.2(TTN):c.95555T>C (p.Leu31852Pro) rs62621206 0.01151
NM_001267550.2(TTN):c.106619T>C (p.Ile35540Thr) rs55880440 0.01150
NM_001122659.3(EDNRB):c.561C>T (p.Ile187=) rs5349 0.01149
NM_153700.2(STRC):c.4127+8C>T rs2470137 0.01144
NM_001267550.2(TTN):c.47400G>A (p.Lys15800=) rs114145817 0.01143
NM_001321218.2(B9D1):c.473-1G>C rs73980009 0.01140
NM_000071.3(CBS):c.304A>C (p.Lys102Gln) rs34040148 0.01138
NM_006231.4(POLE):c.2174-8G>A rs117409343 0.01137
NM_206933.4(USH2A):c.3945T>C (p.Asn1315=) rs41303257 0.01136
NM_001374623.1(PNPLA1):c.1464T>A (p.Tyr488Ter) rs45621032 0.01134
NM_032119.4(ADGRV1):c.5747C>T (p.Thr1916Ile) rs35791889 0.01134
NM_032119.4(ADGRV1):c.7293C>T (p.Ala2431=) rs77791584 0.01133
NM_001267550.2(TTN):c.53192T>C (p.Ile17731Thr) rs72646809 0.01131
NM_002880.3(RAF1):c.-415-1C>G rs61730434 0.01127
NM_032119.4(ADGRV1):c.8407G>A (p.Ala2803Thr) rs111033530 0.01127
NM_001267550.2(TTN):c.16095C>T (p.Asn5365=) rs72648935 0.01116
NM_002234.4(KCNA5):c.751G>A (p.Ala251Thr) rs12720442 0.01115
NM_004333.6(BRAF):c.-19C>T rs71645935 0.01115
NM_001199107.2(TBC1D24):c.1509C>T (p.Ser503=) rs189089167 0.01110
NM_000328.3(RPGR):c.2242-8T>C rs112368541 0.01109
NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn) rs5352 0.01109
NM_153676.4(USH1C):c.819+10G>C rs41282936 0.01105
NM_006393.3(NEBL):c.656C>A (p.Ala219Asp) rs2296610 0.01104
NM_181426.2(CCDC39):c.604G>A (p.Ala202Thr) rs61733578 0.01102
NM_032119.4(ADGRV1):c.7945+6C>T rs139278305 0.01100
NM_001943.5(DSG2):c.3243C>T (p.Val1081=) rs11542379 0.01097
NM_001267550.2(TTN):c.89317A>T (p.Ile29773Leu) rs77853750 0.01096
NM_017780.4(CHD7):c.4534-13T>G rs114996731 0.01094
NM_001267550.2(TTN):c.105529G>A (p.Val35177Met) rs55865284 0.01093
NM_004333.6(BRAF):c.78G>T (p.Glu26Asp) rs371877084 0.01088
NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys) rs28936670 0.01082
NM_001267550.2(TTN):c.105787G>T (p.Ala35263Ser) rs67254537 0.01080
NM_001267550.2(TTN):c.105788C>T (p.Ala35263Val) rs66961115 0.01079
NM_001267550.2(TTN):c.4034G>A (p.Gly1345Asp) rs36021856 0.01079
NM_004006.3(DMD):c.1225A>T (p.Thr409Ser) rs34155804 0.01079
NM_001378454.1(ALMS1):c.6553C>T (p.Pro2185Ser) rs77555300 0.01077
NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp) rs113449357 0.01077
NM_001126108.2(SLC12A3):c.2182G>A (p.Ala728Thr) rs36049418 0.01075
NM_001267550.2(TTN):c.104769A>C (p.Thr34923=) rs56375087 0.01075
NM_001267550.2(TTN):c.106787C>T (p.Thr35596Ile) rs55842557 0.01073
NM_001378454.1(ALMS1):c.5433G>C (p.Lys1811Asn) rs78039319 0.01071
NM_006005.3(WFS1):c.1800C>T (p.Thr600=) rs71524362 0.01070
NM_001267550.2(TTN):c.11019C>T (p.Cys3673=) rs72955212 0.01069
NM_006005.3(WFS1):c.1726G>A (p.Gly576Ser) rs1805069 0.01068
NM_001276345.2(TNNT2):c.294+7G>A rs45490292 0.01066
NM_201384.3(PLEC):c.10058G>C (p.Gly3353Ala) rs35261863 0.01065
NM_001089.3(ABCA3):c.-9A>G rs78286222 0.01064
NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys) rs2230288 0.01061
NM_020451.3(SELENON):c.583G>A (p.Ala195Thr) rs115852080 0.01060
NM_032578.4(MYPN):c.2447C>T (p.Pro816Leu) rs111965755 0.01059
NM_000441.2(SLC26A4):c.970A>T (p.Asn324Tyr) rs36039758 0.01056
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=) rs140587 0.01051
NM_002471.4(MYH6):c.2946G>A (p.Glu982=) rs145274612 0.01048
NM_007215.4(POLG2):c.1247G>C (p.Gly416Ala) rs17850455 0.01048
NM_001105206.3(LAMA4):c.3239G>A (p.Arg1080Gln) rs41289902 0.01045
NM_000410.4(HFE):c.193A>T (p.Ser65Cys) rs1800730 0.01042
NM_001267550.2(TTN):c.4347A>G (p.Ser1449=) rs719202 0.01042
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met) rs41281330 0.01037
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr) rs145643112 0.01037
NM_014739.3(BCLAF1):c.628G>A (p.Gly210Ser) rs141173428 0.01036
NM_002834.5(PTPN11):c.525+12G>C rs41304351 0.01035
NM_033409.4(SLC52A3):c.521A>G (p.Asp174Gly) rs6054614 0.01033
NM_001035.3(RYR2):c.11880+13_11880+16del rs199562036 0.01032
NM_177438.3(DICER1):c.-45-4405C>T rs140969547 0.01032
NM_001267550.2(TTN):c.84453A>G (p.Pro28151=) rs73036373 0.01031
NM_001035.3(RYR2):c.2397-6C>T rs78165942 0.01029
NM_003924.4(PHOX2B):c.552C>T (p.Ser184=) rs17885216 0.01029
NM_006949.4(STXBP2):c.1034C>T (p.Thr345Met) rs117761837 0.01028
NM_001267550.2(TTN):c.63023C>T (p.Thr21008Ile) rs72646850 0.01020
NM_001927.4(DES):c.638C>T (p.Ala213Val) rs41272699 0.01015
NM_023036.6(DNAI2):c.590A>T (p.Asp197Val) rs35636875 0.01015
NM_001267550.2(TTN):c.39082G>A (p.Val13028Met) rs73038314 0.01013
NM_001267550.2(TTN):c.19004A>G (p.Asp6335Gly) rs72648951 0.01012
NM_001369.3(DNAH5):c.3987A>G (p.Lys1329=) rs146191243 0.01011
NM_172245.4(CSF2RA):c.223A>G (p.Ser75Gly) rs149059494 0.01010
NM_004006.3(DMD):c.3734C>T (p.Thr1245Ile) rs1800269 0.01009
NM_206933.4(USH2A):c.11928G>A (p.Thr3976=) rs55961436 0.01005
NM_018046.5(AGGF1):c.397G>A (p.Glu133Lys) rs34203073 0.01003
NM_020433.5(JPH2):c.1513G>A (p.Gly505Ser) rs140740776 0.01003
NM_032119.4(ADGRV1):c.3559A>G (p.Ile1187Val) rs16868935 0.01001
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp) rs41322046 0.01000
NM_139027.6(ADAMTS13):c.2195C>T (p.Ala732Val) rs41314453 0.01000
NM_000452.3(SLC10A2):c.868C>T (p.Pro290Ser) rs56398830 0.00998
NM_014476.6(PDLIM3):c.831G>A (p.Pro277=) rs61734674 0.00997
NM_000209.4(PDX1):c.716C>A (p.Pro239Gln) rs199644078 0.00993
NM_213599.3(ANO5):c.1029C>T (p.Asp343=) rs78899595 0.00992
NM_032119.4(ADGRV1):c.11031C>T (p.Asn3677=) rs75480336 0.00991
NM_001035.3(RYR2):c.13977G>A (p.Glu4659=) rs78369334 0.00989
NM_017950.4(CCDC40):c.2784C>T (p.Ile928=) rs118143944 0.00983
NM_001927.4(DES):c.1375G>A (p.Val459Ile) rs73991549 0.00981
NM_003803.4(MYOM1):c.3945G>A (p.Thr1315=) rs75748615 0.00981
NM_001291303.3(FAT4):c.10810A>C (p.Ile3604Leu) rs76491994 0.00978
NM_001267550.2(TTN):c.10100G>A (p.Arg3367Gln) rs34819099 0.00971
NM_001267550.2(TTN):c.43603C>T (p.Arg14535Cys) rs12471771 0.00967
NM_000479.5(AMH):c.974A>G (p.Gln325Arg) rs140765565 0.00966
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_017433.5(MYO3A):c.3028G>A (p.Glu1010Lys) rs61729833 0.00965
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg) rs41297018 0.00964
NM_001369.3(DNAH5):c.6703T>G (p.Leu2235Val) rs115109673 0.00961
NM_001384474.1(LOXHD1):c.1742T>C (p.Val581Ala) rs35007621 0.00961
NM_007078.3(LDB3):c.302C>T (p.Pro101Leu) rs45592139 0.00960
NM_000020.3(ACVRL1):c.1131A>G (p.Ala377=) rs61734313 0.00959
NM_002180.3(IGHMBP2):c.180C>T (p.Tyr60=) rs34617762 0.00959
NM_001267550.2(TTN):c.17741-9A>G rs72648944 0.00958
NM_032119.4(ADGRV1):c.1839+7G>A rs142011700 0.00957
NM_000204.5(CFI):c.1534+5G>T rs114013791 0.00951
NM_022124.6(CDH23):c.7630T>C (p.Leu2544=) rs114819374 0.00947
NM_007254.4(PNKP):c.58C>T (p.Pro20Ser) rs3739168 0.00946
NM_001035.3(RYR2):c.2204-7C>G rs147479514 0.00944
NM_001130987.2(DYSF):c.3757-12C>T rs114968209 0.00943
NM_014946.4(SPAST):c.879G>A (p.Pro293=) rs145264166 0.00943
NM_017950.4(CCDC40):c.1123A>C (p.Lys375Gln) rs61734951 0.00943
NM_007078.3(LDB3):c.1506G>A (p.Pro502=) rs45579241 0.00941
NM_000171.4(GLRA1):c.1108G>A (p.Gly370Ser) rs116474260 0.00939
NM_002471.4(MYH6):c.3627C>T (p.Ile1209=) rs147871745 0.00930
NM_002471.4(MYH6):c.3480C>T (p.Ser1160=) rs373345984 0.00929
NM_144672.4(OTOA):c.2359G>T (p.Glu787Ter) rs200988634 0.00927
NM_001292063.2(OTOG):c.2512G>C (p.Gly838Arg) rs61734214 0.00925
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys) rs28763967 0.00925
NM_000336.3(SCNN1B):c.1781C>T (p.Thr594Met) rs1799979 0.00918
NM_000337.5(SGCD):c.-179A>G rs77808502 0.00918
NM_000038.6(APC):c.2608C>T (p.Pro870Ser) rs33974176 0.00917
NM_001267550.2(TTN):c.55029G>A (p.Arg18343=) rs62178963 0.00915
NM_001378454.1(ALMS1):c.5463G>A (p.Pro1821=) rs62151609 0.00915
NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala) rs58238559 0.00910
NM_001267550.2(TTN):c.104377A>C (p.Met34793Leu) rs72629787 0.00909
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val) rs78652302 0.00908
NM_000492.4(CFTR):c.2898G>A (p.Thr966=) rs1800109 0.00907
NM_022124.6(CDH23):c.1449+74G>T rs115450602 0.00906
NM_018897.3(DNAH7):c.1139T>G (p.Met380Arg) rs144390858 0.00904
NM_023036.6(DNAI2):c.234G>A (p.Glu78=) rs35985071 0.00904
NM_006073.4(TRDN):c.403G>A (p.Glu135Lys) rs192289289 0.00900
NM_024996.7(GFM1):c.127A>G (p.Asn43Asp) rs35942089 0.00900
NM_024301.5(FKRP):c.249C>T (p.Ala83=) rs149030303 0.00897
NM_194248.3(OTOF):c.710+10C>T rs55639868 0.00890
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746 0.00889
NM_000548.5(TSC2):c.4990-7C>T rs45457095 0.00888
NM_006393.3(NEBL):c.2057T>C (p.Val686Ala) rs74120667 0.00888
NM_020877.5(DNAH2):c.492G>A (p.Arg164=) rs117035657 0.00887
NM_020877.5(DNAH2):c.2648C>T (p.Ser883Leu) rs118057786 0.00885
NM_017780.4(CHD7):c.657C>T (p.Gly219=) rs113483301 0.00881
NM_001127671.2(LIFR):c.1937C>A (p.Thr646Asn) rs79040751 0.00875
NM_001042545.2(LTBP4):c.2812+6C>T rs190107102 0.00874
NM_001010892.3(RSPH4A):c.1798+11G>A rs41290844 0.00873
NM_006949.4(STXBP2):c.1298C>T (p.Ala433Val) rs141309384 0.00866
NM_203447.4(DOCK8):c.3840+3A>G rs16938572 0.00865
NM_001276345.2(TNNT2):c.68-8A>G rs115805892 0.00864
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys) rs3729823 0.00861
NM_194248.3(OTOF):c.3470G>A (p.Arg1157Gln) rs56054534 0.00860
NM_000335.5(SCN5A):c.4215G>A (p.Gly1405=) rs41311123 0.00859
NM_004100.5(EYA4):c.1845C>T (p.Asn615=) rs142721902 0.00854
NM_000257.4(MYH7):c.597A>G (p.Ala199=) rs2069541 0.00853
NM_000037.4(ANK1):c.5544+91C>T rs72638959 0.00849
NM_006005.3(WFS1):c.930A>G (p.Ala310=) rs115561278 0.00845
NM_001256715.2(DNAAF3):c.6C>T (p.Thr2=) rs150362958 0.00844
NM_032119.4(ADGRV1):c.9650C>T (p.Ala3217Val) rs114137750 0.00844
NM_006393.3(NEBL):c.2182A>G (p.Thr728Ala) rs71535732 0.00843
NM_001201397.2(EDNRB):c.39G>T (p.Pro13=) rs138247915 0.00842
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128 0.00841
NM_005544.3(IRS1):c.2452G>C (p.Gly818Arg) rs41265094 0.00841
NM_024334.3(TMEM43):c.222C>T (p.Pro74=) rs34099410 0.00841
NM_144672.4(OTOA):c.2353A>C (p.Thr785Pro) rs464696 0.00839
NM_016239.4(MYO15A):c.4206+13C>G rs141183007 0.00838
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met) rs121908147 0.00835
NM_001267550.2(TTN):c.69740C>T (p.Pro23247Leu) rs115658240 0.00835
NM_001999.4(FBN2):c.4312G>A (p.Glu1438Lys) rs56168072 0.00832
NM_000257.4(MYH7):c.4566T>C (p.Thr1522=) rs2754155 0.00831
NM_001369.3(DNAH5):c.1647C>G (p.Asn549Lys) rs139160176 0.00831
NM_001267550.2(TTN):c.79318C>T (p.Arg26440Cys) rs55861600 0.00828
NM_001267550.2(TTN):c.71940G>A (p.Leu23980=) rs72646893 0.00826
NM_005460.4(SNCAIP):c.2125G>C (p.Glu709Gln) rs55712196 0.00826
NM_001375808.2(LPIN2):c.1801G>A (p.Glu601Lys) rs61735393 0.00824
NM_000249.4(MLH1):c.637G>A (p.Val213Met) rs2308317 0.00818
NM_004998.4(MYO1E):c.1593C>G (p.Ile531Met) rs140447165 0.00815
NM_000478.6(ALPL):c.455G>A (p.Arg152His) rs149344982 0.00814
NM_001378454.1(ALMS1):c.8835C>G (p.Asn2945Lys) rs35062203 0.00814
NM_003673.4(TCAP):c.316C>T (p.Arg106Cys) rs45578741 0.00813
NM_001009944.3(PKD1):c.6598C>T (p.Arg2200Cys) rs140869992 0.00811
NM_006005.3(WFS1):c.1495C>T (p.Leu499Phe) rs114152068 0.00810
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769 0.00809
NM_001369.3(DNAH5):c.5224T>C (p.Leu1742=) rs35963491 0.00809
NM_001267550.2(TTN):c.105468G>A (p.Pro35156=) rs55806007 0.00808
NM_001369.3(DNAH5):c.6919G>A (p.Val2307Ile) rs74604638 0.00808
NM_004369.4(COL6A3):c.5261A>G (p.Lys1754Arg) rs77632596 0.00808
NM_001034853.2(RPGR):c.1367A>G (p.Gln456Arg) rs144635565 0.00806
NM_133379.5(TTN):c.14244T>C (p.Leu4748=) rs139669372 0.00806
NM_194248.3(OTOF):c.2025G>A (p.Glu675=) rs61746988 0.00801
NM_001101648.2(NPC1L1):c.3617T>A (p.Ile1206Asn) rs52815063 0.00800
NM_013254.4(TBK1):c.2139-11G>A rs41292027 0.00800
NM_013296.5(GPSM2):c.1820C>T (p.Ser607Phe) rs35322815 0.00800
NM_001267550.2(TTN):c.86301G>A (p.Lys28767=) rs56310931 0.00799
NM_001369.3(DNAH5):c.6579+6A>G rs141389162 0.00798
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668 0.00797
NM_001164508.2(NEB):c.24208-7C>T rs113048349 0.00793
NM_005379.4(MYO1A):c.1517G>C (p.Cys506Ser) rs12297756 0.00793
NM_001130987.2(DYSF):c.4621C>T (p.Leu1541=) rs7573406 0.00792
NM_016239.4(MYO15A):c.6796G>A (p.Val2266Met) rs114274755 0.00791
NM_000260.4(MYO7A):c.1798-15C>T rs115708180 0.00789
NM_001276345.2(TNNT2):c.474G>C (p.Arg158=) rs35914325 0.00788
NM_005633.4(SOS1):c.1964C>T (p.Pro655Leu) rs56219475 0.00787
NM_006393.3(NEBL):c.191A>G (p.Lys64Arg) rs71578975 0.00786
NM_014476.6(PDLIM3):c.849C>T (p.Gly283=) rs61734675 0.00785
NM_032119.4(ADGRV1):c.7079G>A (p.Arg2360His) rs111033470 0.00784
NM_170707.4(LMNA):c.438C>T (p.Ala146=) rs80356805 0.00782
NM_001267550.2(TTN):c.6727G>T (p.Asp2243Tyr) rs138787974 0.00778
NM_001384474.1(LOXHD1):c.2027A>G (p.Asp676Gly) rs16978578 0.00777
NM_001267550.2(TTN):c.101766G>C (p.Gln33922His) rs55886356 0.00774
NM_001267550.2(TTN):c.49443A>C (p.Pro16481=) rs74321406 0.00774
NM_006005.3(WFS1):c.1308C>T (p.Thr436=) rs71539646 0.00773
NM_001277115.2(DNAH11):c.11200A>C (p.Lys3734Gln) rs114257197 0.00770
NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn) rs114402911 0.00770
NM_020297.4(ABCC9):c.2200G>A (p.Val734Ile) rs61688134 0.00769
NM_032119.4(ADGRV1):c.7179C>T (p.Asp2393=) rs111033429 0.00767
NM_001089.3(ABCA3):c.4165-8G>A rs138769732 0.00766
NM_001042545.2(LTBP4):c.2053G>A (p.Asp685Asn) rs34093919 0.00763
NM_016239.4(MYO15A):c.2028C>A (p.Pro676=) rs577023485 0.00762
NM_006005.3(WFS1):c.2611G>A (p.Val871Met) rs71532874 0.00761
NM_002230.4(JUP):c.1942G>A (p.Val648Ile) rs143043662 0.00760
NM_000548.5(TSC2):c.3914C>T (p.Pro1305Leu) rs45517320 0.00758
NM_001267550.2(TTN):c.34970G>A (p.Arg11657His) rs59887778 0.00758
NM_001267550.2(TTN):c.42219C>T (p.Phe14073=) rs150612172 0.00757
NM_001195263.2(PDZD7):c.2144C>T (p.Pro715Leu) rs143414291 0.00754
NM_002230.4(JUP):c.1563A>G (p.Ala521=) rs149926974 0.00753
NM_014391.3(ANKRD1):c.348G>A (p.Thr116=) rs137914723 0.00748
NM_001384140.1(PCDH15):c.4672-1637G>A rs139441645 0.00746
NM_003664.5(AP3B1):c.2324T>A (p.Ile775Lys) rs62001050 0.00745
NM_000642.3(AGL):c.1481G>A (p.Arg494His) rs141043166 0.00743
NM_000260.4(MYO7A):c.5215C>A (p.Arg1739=) rs111033477 0.00740
NM_020297.4(ABCC9):c.3409G>A (p.Val1137Ile) rs147895473 0.00739
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val) rs72549415 0.00737
NM_000218.3(KCNQ1):c.1942G>A (p.Val648Ile) rs34150427 0.00734
NM_000395.3(CSF2RB):c.1153-13T>C rs117405606 0.00731
NM_194248.3(OTOF):c.98G>A (p.Arg33Gln) rs56332208 0.00731
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg) rs72648927 0.00729
NM_014476.6(PDLIM3):c.162C>T (p.Gly54=) rs112661328 0.00729
NM_002471.4(MYH6):c.4206C>T (p.Ala1402=) rs111638554 0.00728
NM_004085.4(TIMM8A):c.-6C>T rs180806413 0.00726
NM_001039569.2(AP1S3):c.97C>T (p.Arg33Trp) rs138292988 0.00725
NM_153676.4(USH1C):c.2547-8A>G rs78509055 0.00720
NM_213569.2(NEBL):c.357T>C (p.Asn119=) rs115708584 0.00720
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn) rs115014558 0.00719
NM_000070.3(CAPN3):c.319G>A (p.Glu107Lys) rs1801505 0.00719
NM_000260.4(MYO7A):c.133-14C>T rs116228809 0.00719
NM_001267550.2(TTN):c.60232G>A (p.Val20078Met) rs77351975 0.00719
NM_001267550.2(TTN):c.63026G>A (p.Arg21009Gln) rs72646851 0.00718
NM_001384474.1(LOXHD1):c.1028G>A (p.Arg343His) rs183531840 0.00717
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808 0.00716
NM_080860.4(RSPH1):c.650T>G (p.Leu217Trp) rs138007679 0.00716
NM_004006.3(DMD):c.2391T>G (p.Asn797Lys) rs72468681 0.00714
NM_001038.6(SCNN1A):c.-48A>G rs150809388 0.00712
NM_032119.4(ADGRV1):c.13037C>T (p.Pro4346Leu) rs74632023 0.00712
NM_001195263.2(PDZD7):c.1613G>A (p.Gly538Glu) rs112571971 0.00706
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser) rs34677591 0.00706
NM_001267550.2(TTN):c.57462G>A (p.Gln19154=) rs72646832 0.00703
NM_001267550.2(TTN):c.57464G>A (p.Arg19155Lys) rs72646833 0.00702
NM_004316.4(ASCL1):c.123A>G (p.Ala41=) rs558732328 0.00702
NM_138694.4(PKHD1):c.8521A>G (p.Met2841Val) rs113562492 0.00702
NM_001267550.2(TTN):c.23177C>T (p.Ser7726Leu) rs17452588 0.00701
NM_001267550.2(TTN):c.24160A>T (p.Ile8054Leu) rs72648976 0.00701
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401 0.00699
NM_001384140.1(PCDH15):c.4024C>A (p.Gln1342Lys) rs61731387 0.00699
NM_001267550.2(TTN):c.45328G>A (p.Asp15110Asn) rs17354992 0.00698
NM_170665.4(ATP2A2):c.-10C>G rs201929640 0.00698
NM_001267550.2(TTN):c.39183T>A (p.Pro13061=) rs12474306 0.00697
NM_001267550.2(TTN):c.56529G>A (p.Thr18843=) rs72646827 0.00697
NM_170665.4(ATP2A2):c.327A>G (p.Glu109=) rs55984131 0.00696
NM_206933.4(USH2A):c.10552G>A (p.Val3518Ile) rs75397806 0.00696
NM_001039.4(SCNN1G):c.435C>T (p.Ser145=) rs62639702 0.00695
NM_001267550.2(TTN):c.32722+9G>A rs148231130 0.00695
NM_001927.4(DES):c.735+20C>T rs151226355 0.00694
NM_001943.5(DSG2):c.2587A>C (p.Met863Leu) rs16962093 0.00694
NM_001267550.2(TTN):c.43596T>C (p.Asn14532=) rs16866423 0.00691
NM_001292063.2(OTOG):c.1797G>A (p.Arg599=) rs73418068 0.00690
NM_022124.6(CDH23):c.1134+22C>T rs115745871 0.00690
NM_001378454.1(ALMS1):c.10628C>G (p.Thr3543Ser) rs45501594 0.00688
NM_080680.3(COL11A2):c.1782C>T (p.Asp594=) rs41266697 0.00686
NM_001206927.2(DNAH8):c.11771C>T (p.Thr3924Met) rs61757218 0.00685
NM_001267550.2(TTN):c.45083-10A>G rs72677222 0.00683
NM_001267550.2(TTN):c.99111T>C (p.Tyr33037=) rs77257306 0.00682
NM_024867.4(SPEF2):c.3802-8G>A rs138022749 0.00682
NM_000337.6(SGCD):c.507G>A (p.Ala169=) rs10071079 0.00680
NM_001174096.2(ZEB1):c.2522A>C (p.Gln841Pro) rs118020901 0.00680
NM_001243133.2(NLRP3):c.423C>T (p.Tyr141=) rs56710146 0.00680
NM_022124.6(CDH23):c.1096G>A (p.Ala366Thr) rs143282422 0.00680
NM_001005242.3(PKP2):c.174G>T (p.Glu58Asp) rs146708884 0.00677
NM_000092.5(COL4A4):c.666G>A (p.Pro222=) rs111945121 0.00676
NM_000219.6(KCNE1):c.84G>A (p.Ser28=) rs17173510 0.00676
NM_000038.6(APC):c.5265G>A (p.Ala1755=) rs34506289 0.00675
NM_001267550.2(TTN):c.16303G>A (p.Val5435Met) rs72648937 0.00675
NM_001038.6(SCNN1A):c.-28T>C rs61759919 0.00673
NM_005422.4(TECTA):c.5012C>T (p.Ser1671Leu) rs142948530 0.00672
NM_006005.3(WFS1):c.2335G>A (p.Val779Met) rs141328044 0.00672
NM_080680.3(COL11A2):c.1098G>A (p.Ala366=) rs73741539 0.00672
NM_001267550.2(TTN):c.81057T>C (p.Thr27019=) rs114908705 0.00671
NM_003664.5(AP3B1):c.2661C>A (p.Phe887Leu) rs139344924 0.00669
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys) rs41303344 0.00668
NM_001267550.2(TTN):c.95259C>T (p.Leu31753=) rs72648258 0.00667
NM_001127453.2(GSDME):c.577-15C>T rs11970787 0.00666
NM_001267550.2(TTN):c.21044C>T (p.Ala7015Val) rs72648960 0.00666
NM_016239.4(MYO15A):c.10182G>A (p.Ala3394=) rs79230542 0.00665
NM_022124.6(CDH23):c.2337G>A (p.Lys779=) rs111033461 0.00664
NM_001089.3(ABCA3):c.863G>A (p.Arg288Lys) rs117603931 0.00662
NM_001384474.1(LOXHD1):c.611-15T>C rs146912450 0.00662
NM_024334.3(TMEM43):c.698A>G (p.Tyr233Cys) rs35924492 0.00660
NM_001035.3(RYR2):c.8448C>T (p.Asp2816=) rs144876996 0.00659
NM_014000.3(VCL):c.2801C>T (p.Ala934Val) rs16931179 0.00658
NM_016239.4(MYO15A):c.9478C>T (p.Leu3160Phe) rs140029076 0.00658
NM_001384474.1(LOXHD1):c.3999C>T (p.Cys1333=) rs117297079 0.00657
NM_024867.4(SPEF2):c.1262G>A (p.Arg421His) rs139580877 0.00656
NM_005633.4(SOS1):c.1074+5G>C rs145155424 0.00655
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564 0.00654
NM_001042545.2(LTBP4):c.135C>T (p.Cys45=) rs185400394 0.00654
NM_001267550.2(TTN):c.22074A>G (p.Lys7358=) rs34562585 0.00654
NM_004230.4(S1PR2):c.857T>C (p.Val286Ala) rs117064827 0.00652
NM_006073.4(TRDN):c.1538-13T>G rs55704802 0.00651
NM_001195263.2(PDZD7):c.1008C>T (p.Pro336=) rs144469613 0.00650
NM_000215.4(JAK3):c.452C>G (p.Pro151Arg) rs55778349 0.00647
NM_000260.4(MYO7A):c.2236G>A (p.Asp746Asn) rs36090425 0.00646
NM_004415.4(DSP):c.*9T>A rs11558732 0.00645
NM_032119.4(ADGRV1):c.10769+9A>G rs116184119 0.00645
NM_001035.3(RYR2):c.576+7G>C rs10925392 0.00643
NM_001292063.2(OTOG):c.8168T>C (p.Leu2723Pro) rs180703235 0.00643
NM_001267550.2(TTN):c.20147T>A (p.Met6716Lys) rs28626194 0.00641
NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser) rs72677242 0.00641
NM_000337.6(SGCD):c.294+8T>C rs11748588 0.00640
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=) rs115744476 0.00640
NM_001292063.2(OTOG):c.3351G>A (p.Pro1117=) rs146781877 0.00639
NM_170707.4(LMNA):c.612G>A (p.Leu204=) rs12117552 0.00637
NM_000492.4(CFTR):c.1680-871A>G rs572658447 0.00636
NM_001267550.2(TTN):c.19383T>C (p.Asn6461=) rs76771282 0.00636
NM_133379.5(TTN):c.16508G>C (p.Ser5503Thr) rs16866489 0.00635
NM_001267550.2(TTN):c.17888A>G (p.Glu5963Gly) rs146983095 0.00634
NM_004447.6(EPS8):c.2113G>A (p.Ala705Thr) rs78763451 0.00634
NM_002764.4(PRPS1):c.456A>G (p.Leu152=) rs61735617 0.00632
NM_002458.3(MUC5B):c.17043C>T (p.Cys5681=) rs61734215 0.00631
NM_033056.4(PCDH15):c.4850A>G (p.Asn1617Ser) rs111033362 0.00631
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr) rs74653330 0.00630
NM_020433.5(JPH2):c.661T>C (p.Phe221Leu) rs558770240 0.00630
NM_194248.3(OTOF):c.145C>T (p.Arg49Trp) rs61746568 0.00630
NM_024334.3(TMEM43):c.953C>T (p.Ala318Val) rs11924644 0.00629
NM_001849.4(COL6A2):c.1466G>A (p.Arg489Gln) rs61735828 0.00627
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100 0.00625
NM_001267550.2(TTN):c.91573A>G (p.Ile30525Val) rs72648244 0.00625
NM_017780.4(CHD7):c.6111C>T (p.Pro2037=) rs41312170 0.00625
NM_002458.3(MUC5B):c.15826G>T (p.Val5276Leu) rs55893724 0.00624
NM_000260.4(MYO7A):c.4461C>T (p.Asn1487=) rs56174006 0.00618
NM_000275.3(OCA2):c.574-19A>G rs145242923 0.00618
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe) rs28763961 0.00618
NM_201384.3(PLEC):c.13110C>T (p.Ala4370=) rs187810163 0.00617
NM_001999.4(FBN2):c.629-9A>G rs56025995 0.00616
NM_000071.3(CBS):c.573G>A (p.Thr191=) rs73906420 0.00615
NM_001142784.3(IL11RA):c.128C>T (p.Ser43Phe) rs76429508 0.00615
NM_001267550.2(TTN):c.81558T>C (p.Asn27186=) rs56181243 0.00615
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys) rs56273463 0.00613
NM_001267550.2(TTN):c.12580A>T (p.Ile4194Phe) rs34618570 0.00613
NM_015404.4(WHRN):c.229A>T (p.Thr77Ser) rs56204273 0.00613
NM_022124.6(CDH23):c.6990G>T (p.Leu2330=) rs111033495 0.00610
NM_001199107.2(TBC1D24):c.885C>G (p.Phe295Leu) rs72768728 0.00609
NM_000051.4(ATM):c.5793T>C (p.Ala1931=) rs3092910 0.00608
NM_001267550.2(TTN):c.83063G>A (p.Arg27688His) rs185002960 0.00608
NM_001277115.2(DNAH11):c.1426-9T>C rs72655983 0.00607
NM_206933.4(USH2A):c.9262G>A (p.Glu3088Lys) rs56056328 0.00606
NM_001035.3(RYR2):c.14299-12A>G rs41267519 0.00603
NM_001378609.3(OTOGL):c.5710G>A (p.Asp1904Asn) rs145653077 0.00603
NM_004447.6(EPS8):c.1482T>C (p.Ser494=) rs75560906 0.00602
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470 0.00601
NM_058246.4(DNAJB6):c.899-6C>T rs78337193 0.00601
NM_001267550.2(TTN):c.45350-13T>C rs113084617 0.00600
NM_016239.4(MYO15A):c.6614C>T (p.Thr2205Ile) rs121908970 0.00599
NM_024334.3(TMEM43):c.1096G>A (p.Ala366Thr) rs36083134 0.00599
NM_001267550.2(TTN):c.90638T>C (p.Ile30213Thr) rs114026724 0.00598
NM_000195.5(HPS1):c.1698G>A (p.Ser566=) rs148450315 0.00596
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg) rs28940884 0.00596
NM_001048174.2(MUTYH):c.1347G>C (p.Thr449=) rs74318065 0.00596
NM_001243133.2(NLRP3):c.1600C>T (p.Leu534=) rs116054301 0.00596
NM_002764.4(PRPS1):c.477C>T (p.Ile159=) rs61752962 0.00596
NM_152263.4(TPM3):c.92A>C (p.Lys31Thr) rs62000429 0.00596
NM_001042544.1(LTBP4):c.108G>A (p.Gln36=) rs184935788 0.00595
NM_004006.3(DMD):c.2143A>T (p.Thr715Ser) rs16998350 0.00594
NM_001267550.2(TTN):c.17312C>G (p.Thr5771Ser) rs16866477 0.00593
NM_001363118.2(SLC52A2):c.1089G>A (p.Pro363=) rs146292053 0.00593
NM_133379.5(TTN):c.11006A>G (p.Asp3669Gly) rs72647896 0.00591
NM_001267550.2(TTN):c.88858C>T (p.Leu29620=) rs115070904 0.00590
NM_001384474.1(LOXHD1):c.2599-11C>T rs150139569 0.00590
NM_024422.6(DSC2):c.1719C>T (p.Asn573=) rs140167653 0.00590
NM_004415.4(DSP):c.105G>A (p.Gly35=) rs77445784 0.00587
NM_001267550.2(TTN):c.2270C>T (p.Pro757Leu) rs116307796 0.00586
NM_017780.4(CHD7):c.309G>A (p.Ser103=) rs115293759 0.00586
NM_206933.4(USH2A):c.7685T>C (p.Val2562Ala) rs56385601 0.00586
NM_001267550.2(TTN):c.17989G>A (p.Ala5997Thr) rs72648946 0.00585
NM_001368067.1(LDB3):c.349G>A (p.Asp117Asn) rs121908338 0.00584
NM_006012.4(CLPP):c.368-8G>A rs143053584 0.00583
NM_024009.3(GJB3):c.529T>G (p.Tyr177Asp) rs80297119 0.00582
NM_032119.4(ADGRV1):c.2553+11T>A rs73181640 0.00580
NM_001378454.1(ALMS1):c.3193T>C (p.Ser1065Pro) rs28730852 0.00579
NM_003803.4(MYOM1):c.3453T>A (p.Asp1151Glu) rs143879853 0.00578
NM_004387.4(NKX2-5):c.543G>A (p.Gln181=) rs72554028 0.00578
NM_001103.4(ACTN2):c.1371C>T (p.Arg457=) rs114008185 0.00577
NM_017780.4(CHD7):c.5051-4C>T rs71640288 0.00577
NM_001032283.3(TMPO):c.565+2487C>T rs17028450 0.00576
NM_000335.5(SCN5A):c.1587T>C (p.Ile529=) rs45624133 0.00575
NM_001039141.3(TRIOBP):c.6472+10C>T rs369182277 0.00575
NM_001134363.3(RBM20):c.1881-3C>T rs138436392 0.00575
NM_000091.5(COL4A3):c.4484A>G (p.Gln1495Arg) rs77964815 0.00573
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792 0.00573
NM_002471.4(MYH6):c.2579G>A (p.Arg860His) rs115845031 0.00573
NM_014908.4(DOLK):c.1dup (p.Met1fs) rs531969689 0.00573
NM_004415.4(DSP):c.4455G>T (p.Arg1485Ser) rs113902911 0.00572
NM_002880.4(RAF1):c.923C>T (p.Pro308Leu) rs5746220 0.00571
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166 0.00570
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=) rs1800118 0.00570
NM_001267550.2(TTN):c.11969C>T (p.Pro3990Leu) rs33971253 0.00570
NM_005379.4(MYO1A):c.916G>A (p.Val306Met) rs55679042 0.00570
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282 0.00569
NM_001128840.3(CACNA1D):c.3870+13C>G rs148858045 0.00567
NM_001378454.1(ALMS1):c.10272G>C (p.Lys3424Asn) rs34398445 0.00566
NM_001292063.2(OTOG):c.8542-8C>T rs182750732 0.00565
NM_005422.4(TECTA):c.790+12C>T rs138644808 0.00563
NM_001384140.1(PCDH15):c.4671+1053A>C rs149208928 0.00562
NM_133379.5(TTN):c.13936A>G (p.Lys4646Glu) rs140909116 0.00562
NM_000138.5(FBN1):c.5343G>A (p.Val1781=) rs140649 0.00561
NM_022124.6(CDH23):c.2568C>G (p.Ile856Met) rs188498736 0.00561
NM_000260.4(MYO7A):c.4074C>T (p.Ser1358=) rs78996818 0.00559
NM_001267550.2(TTN):c.82740G>A (p.Thr27580=) rs56345408 0.00559
NM_000432.4(MYL2):c.381G>A (p.Ala127=) rs2233261 0.00558
NM_001267550.2(TTN):c.4739C>T (p.Thr1580Met) rs73973147 0.00558
NM_006610.4(MASP2):c.467G>A (p.Cys156Tyr) rs41307788 0.00558
NM_000138.5(FBN1):c.2855-9C>T rs140590 0.00556
NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu) rs189569984 0.00554
NM_002473.6(MYH9):c.136C>T (p.Leu46Phe) rs147122501 0.00554
NM_001267550.2(TTN):c.69676A>G (p.Ser23226Gly) rs72646885 0.00553
NM_002230.4(JUP):c.1774-13C>T rs116772523 0.00553
NM_080680.3(COL11A2):c.3615C>A (p.Asn1205Lys) rs141967872 0.00553
NM_001267550.2(TTN):c.1079G>C (p.Arg360Thr) rs56128843 0.00552
NM_001369.3(DNAH5):c.5115-4G>T rs141141086 0.00551
NM_004960.4(FUS):c.*41G>A rs80301724 0.00551
NM_001378609.3(OTOGL):c.5923T>C (p.Leu1975=) rs73139245 0.00550
NM_001943.5(DSG2):c.473T>G (p.Val158Gly) rs191143292 0.00550
NM_002458.3(MUC5B):c.324C>T (p.Arg108=) rs56168747 0.00550
NM_001243133.2(NLRP3):c.1020C>T (p.Pro340=) rs41311573 0.00548
NM_001384474.1(LOXHD1):c.5868C>T (p.His1956=) rs114974101 0.00548
NM_004817.4(TJP2):c.61-7344G>C rs73450853 0.00547
NM_001267550.2(TTN):c.6353T>C (p.Ile2118Thr) rs56404770 0.00546
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser) rs55638457 0.00545
NM_001267550.2(TTN):c.29178C>A (p.Ile9726=) rs72650003 0.00545
NM_001267550.2(TTN):c.32624C>T (p.Pro10875Leu) rs72650031 0.00544
NM_032119.4(ADGRV1):c.4260A>G (p.Glu1420=) rs61740119 0.00542
NM_004004.6(GJB2):c.-23+12G>A rs397516866 0.00541
NM_017433.5(MYO3A):c.4465A>G (p.Ile1489Val) rs147376000 0.00541
NM_022124.6(CDH23):c.8022G>A (p.Gln2674=) rs201733315 0.00539
NM_032229.3(SLITRK6):c.2195G>A (p.Gly732Glu) rs74591375 0.00539
NM_001035.3(RYR2):c.14809-15C>G rs790897 0.00538
NM_016203.4(PRKAG2):c.207G>A (p.Pro69=) rs144384573 0.00538
NM_000335.5(SCN5A):c.1743G>A (p.Ser581=) rs41313687 0.00537
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val) rs146496725 0.00537
NM_001042545.2(LTBP4):c.891C>T (p.Gly297=) rs374427407 0.00535
NM_001267550.2(TTN):c.42024+6T>C rs140002940 0.00535
NM_003803.4(MYOM1):c.1890G>A (p.Glu630=) rs36098676 0.00535
NM_024334.3(TMEM43):c.82C>T (p.Arg28Trp) rs35028636 0.00535
NM_001128840.3(CACNA1D):c.3892C>T (p.Pro1298Ser) rs72556360 0.00534
NM_001267550.2(TTN):c.39709+6C>T rs72650067 0.00533
NM_006393.3(NEBL):c.1861A>G (p.Ile621Val) rs79718972 0.00532
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu) rs55866005 0.00531
NM_001267550.2(TTN):c.10242C>T (p.Tyr3414=) rs45447891 0.00530
NM_003664.5(AP3B1):c.1317T>G (p.Thr439=) rs75248449 0.00528
NM_000218.3(KCNQ1):c.720C>T (p.His240=) rs28730754 0.00524
NM_001277115.2(DNAH11):c.939C>T (p.Ser313=) rs72655977 0.00522
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098 0.00519
NM_001267550.2(TTN):c.47723G>A (p.Arg15908His) rs72677237 0.00519
NM_005105.5(RBM8A):c.67+32G>C rs201779890 0.00518
NM_022124.6(CDH23):c.1449+76C>A rs41281304 0.00518
NM_032119.4(ADGRV1):c.9607T>A (p.Ser3203Thr) rs116480183 0.00517
NM_001267550.2(TTN):c.79319G>A (p.Arg26440His) rs56044609 0.00516
NM_002693.3(POLG):c.1550G>T (p.Gly517Val) rs61752783 0.00516
NM_022124.6(CDH23):c.3999G>A (p.Val1333=) rs111033453 0.00516
NM_178857.6(RP1L1):c.3955G>A (p.Ala1319Thr) rs73201156 0.00515
NM_000260.4(MYO7A):c.4697C>T (p.Thr1566Met) rs41298747 0.00512
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn) rs72677225 0.00512
NM_022124.6(CDH23):c.5297T>C (p.Phe1766Ser) rs114745089 0.00511
NM_031475.3(ESPN):c.2070G>A (p.Ser690=) rs142850918 0.00511
NM_000335.5(SCN5A):c.3508+10C>T rs41258454 0.00510
NM_001127496.3(SPRY4):c.653C>A (p.Ser218Tyr) rs139512218 0.00510
NM_005633.4(SOS1):c.2167+6T>G rs186640807 0.00510
NM_002309.5(LIF):c.256G>A (p.Val86Met) rs41281637 0.00508
NM_003664.5(AP3B1):c.2585C>T (p.Thr862Ile) rs146624866 0.00508
NM_001039876.3(SYNE4):c.805C>T (p.Leu269=) rs147433902 0.00507
NM_000092.5(COL4A4):c.2907A>C (p.Ser969=) rs116354015 0.00506
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_005379.4(MYO1A):c.2390C>T (p.Ser797Phe) rs113470661 0.00506
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=) rs45540831 0.00505
NM_017780.4(CHD7):c.1018A>G (p.Met340Val) rs41305525 0.00505
NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser) rs149001703 0.00504
NM_032578.4(MYPN):c.1134C>T (p.Ile378=) rs145701607 0.00504
NM_201384.3(PLEC):c.9925C>T (p.Arg3309Cys) rs77303974 0.00503
NM_006393.3(NEBL):c.11C>T (p.Pro4Leu) rs114918858 0.00501
NM_001122659.3(EDNRB):c.49C>T (p.Leu17Phe) rs5346 0.00500
NM_032119.4(ADGRV1):c.4939A>G (p.Ile1647Val) rs72782753 0.00500
NM_003476.5(CSRP3):c.213C>T (p.Ile71=) rs45476991 0.00499
NM_001267550.2(TTN):c.47271T>C (p.Asp15757=) rs76081119 0.00498
NM_001267550.2(TTN):c.91884A>T (p.Arg30628Ser) rs144922355 0.00496
NM_000070.3(CAPN3):c.318C>T (p.Cys106=) rs117609395 0.00495
NM_022124.6(CDH23):c.6687C>T (p.Asp2229=) rs76463072 0.00494
NM_000286.3(PEX12):c.102A>T (p.Arg34Ser) rs147530802 0.00493
NM_001267550.2(TTN):c.24973A>G (p.Lys8325Glu) rs72648984 0.00493
NM_032119.4(ADGRV1):c.3482C>G (p.Ser1161Cys) rs147062294 0.00492
NM_000492.4(CFTR):c.1581A>G (p.Glu527=) rs1800094 0.00491
NM_001267550.2(TTN):c.21019A>T (p.Ile7007Phe) rs114626713 0.00491
NM_022124.6(CDH23):c.6852G>C (p.Leu2284=) rs56013867 0.00491
NM_002471.4(MYH6):c.330G>A (p.Ala110=) rs77679218 0.00490
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734 0.00488
NM_000335.5(SCN5A):c.3360G>A (p.Ala1120=) rs9858585 0.00488
NM_022124.6(CDH23):c.5544C>T (p.Asp1848=) rs142131750 0.00488
NM_206933.4(USH2A):c.13440G>A (p.Arg4480=) rs111033378 0.00488
NM_002471.4(MYH6):c.36G>A (p.Ala12=) rs141014719 0.00487
NM_004999.4(MYO6):c.2982G>A (p.Glu994=) rs55905349 0.00487
NM_004006.3(DMD):c.10789C>T (p.Leu3597=) rs1800281 0.00486
NM_153700.2(STRC):c.498G>A (p.Pro166=) rs139848805 0.00486
NM_000091.5(COL4A3):c.346C>A (p.Pro116Thr) rs115324397 0.00485
NM_032119.4(ADGRV1):c.3289G>A (p.Gly1097Ser) rs148097083 0.00484
NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg) rs41308846 0.00484
NM_001039141.3(TRIOBP):c.6736G>A (p.Glu2246Lys) rs138139146 0.00483
NM_001277115.2(DNAH11):c.6416G>A (p.Arg2139Lys) rs140048925 0.00483
NM_001384474.1(LOXHD1):c.2871G>A (p.Ser957=) rs181591912 0.00482
NM_017780.4(CHD7):c.6478G>A (p.Ala2160Thr) rs61753399 0.00482
NM_080860.4(RSPH1):c.365+13T>C rs181902996 0.00482
NM_001267550.2(TTN):c.68079G>A (p.Thr22693=) rs11904444 0.00481
NM_001267550.2(TTN):c.95035G>A (p.Asp31679Asn) rs116567963 0.00481
NM_001382391.1(CSPP1):c.-121A>G rs181470846 0.00481
NM_000071.3(CBS):c.531+11G>A rs186114513 0.00479
NM_000092.5(COL4A4):c.1833T>C (p.Gly611=) rs145806603 0.00479
NM_004999.4(MYO6):c.1656G>A (p.Lys552=) rs111033431 0.00479
NM_206933.4(USH2A):c.5517G>A (p.Val1839=) rs111033421 0.00479
NM_133379.5(TTN):c.13455T>C (p.Pro4485=) rs146470872 0.00477
NM_017780.4(CHD7):c.7590A>G (p.Lys2530=) rs61742801 0.00476
NM_001122659.3(EDNRB):c.169G>A (p.Gly57Ser) rs1801710 0.00475
NM_015404.4(WHRN):c.764G>A (p.Gly255Asp) rs79509430 0.00475
NM_145309.6(LRRC51):c.352G>C (p.Gly118Arg) rs149637884 0.00473
NM_000250.2(MPO):c.2031-2A>C rs35897051 0.00472
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys) rs72648942 0.00471
NM_003573.2(LTBP4):c.2389+9A>G rs73544980 0.00471
NM_203447.4(DOCK8):c.3573C>T (p.Ser1191=) rs13285348 0.00471
NM_016239.4(MYO15A):c.6192G>A (p.Gly2064=) rs55688805 0.00470
NM_017780.4(CHD7):c.2230G>A (p.Gly744Ser) rs141947938 0.00470
NM_018139.3(DNAAF2):c.1494G>A (p.Ser498=) rs2985688 0.00470
NM_001267550.2(TTN):c.64032C>T (p.Asn21344=) rs72646857 0.00468
NM_144991.3(TSPEAR):c.702C>T (p.Asn234=) rs117791519 0.00468
NM_001177316.2(SLC34A3):c.625C>T (p.Leu209=) rs34796681 0.00467
NM_001292063.2(OTOG):c.2098G>A (p.Ala700Thr) rs113745835 0.00467
NM_032119.4(ADGRV1):c.10936T>C (p.Ser3646Pro) rs13171868 0.00467
NM_003924.4(PHOX2B):c.726A>G (p.Ala242=) rs757355779 0.00466
NM_015340.4(LARS2):c.765G>A (p.Ala255=) rs116272561 0.00466
NM_000271.5(NPC1):c.2073G>A (p.Pro691=) rs113013085 0.00465
NM_001038603.3(MARVELD2):c.500A>G (p.Gln167Arg) rs139854607 0.00464
NM_001267550.2(TTN):c.33742+11A>G rs72650042 0.00463
NM_016239.4(MYO15A):c.3756C>T (p.Tyr1252=) rs59933498 0.00463
NM_016616.5(NME8):c.528+11T>C rs117681493 0.00463
NM_000368.5(TSC1):c.3282G>A (p.Glu1094=) rs116747861 0.00461
NM_001035.3(RYR2):c.1863C>T (p.His621=) rs17686573 0.00461
NM_001105206.3(LAMA4):c.888C>T (p.Ser296=) rs17073495 0.00461
NM_001267550.2(TTN):c.32350C>G (p.Leu10784Val) rs72650029 0.00461
NM_001277115.2(DNAH11):c.4501-7A>T rs62447794 0.00461
NM_001145809.2(MYH14):c.2792G>A (p.Arg931His) rs200351672 0.00460
NM_004006.3(DMD):c.1997C>T (p.Ser666Leu) rs34563188 0.00460
NM_024915.4(GRHL2):c.1500G>A (p.Thr500=) rs34550163 0.00460
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly) rs72653762 0.00459
NM_001386795.1(DTNA):c.210G>A (p.Leu70=) rs117571555 0.00459
NM_001267550.2(TTN):c.60055G>A (p.Glu20019Lys) rs201487340 0.00458
NM_022773.4(LMF1):c.1052G>A (p.Arg351Gln) rs192520307 0.00458
NM_024915.4(GRHL2):c.1517+12A>G rs142083150 0.00458
NM_001292063.2(OTOG):c.7045A>G (p.Ile2349Val) rs191722806 0.00457
NM_001039141.3(TRIOBP):c.391G>A (p.Gly131Ser) rs144634857 0.00455
NM_002471.4(MYH6):c.86G>A (p.Arg29Gln) rs150574114 0.00455
NM_003001.5(SDHC):c.354T>C (p.Phe118=) rs61733156 0.00454
NM_005188.4(CBL):c.2710G>A (p.Val904Ile) rs17122769 0.00454
NM_003672.4(CDC14A):c.819C>G (p.Ala273=) rs28364884 0.00453
NM_001110219.3(GJB6):c.595T>A (p.Ser199Thr) rs111033338 0.00452
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr) rs41276886 0.00451
NM_001292063.2(OTOG):c.3525+10C>A rs113275496 0.00451
NM_002471.4(MYH6):c.1989C>T (p.Asn663=) rs28730774 0.00451
NM_015340.4(LARS2):c.1552G>A (p.Asp518Asn) rs116826217 0.00451
NM_016239.4(MYO15A):c.5894G>A (p.Arg1965His) rs139347804 0.00451
NR_029512.1(MIR96):n.42C>T rs73159662 0.00451
NM_000441.2(SLC26A4):c.898A>C (p.Ile300Leu) rs111033304 0.00450
NM_001277115.2(DNAH11):c.9435G>A (p.Thr3145=) rs72657379 0.00449
NM_001384140.1(PCDH15):c.4671+1438A>C rs16937768 0.00449
NM_004999.4(MYO6):c.1674+13A>G rs6925845 0.00447
NM_022124.6(CDH23):c.9758A>C (p.Asp3253Ala) rs140463385 0.00447
NM_001035.3(RYR2):c.14029C>T (p.Leu4677=) rs112864477 0.00446
NM_001267550.2(TTN):c.*6C>A rs188728343 0.00446
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_001145809.2(MYH14):c.826A>G (p.Ile276Val) rs55645295 0.00445
NM_014000.3(VCL):c.1317T>C (p.Ser439=) rs71579355 0.00442
NM_153676.4(USH1C):c.2488G>A (p.Gly830Arg) rs142751309 0.00442
NM_004281.4(BAG3):c.231G>A (p.Pro77=) rs143752613 0.00441
NM_000138.5(FBN1):c.6594C>T (p.Pro2198=) rs111844882 0.00439
NM_001943.5(DSG2):c.2759T>G (p.Val920Gly) rs142841727 0.00439
NM_001384140.1(PCDH15):c.4671+1087C>T rs12359240 0.00438
NM_022114.4(PRDM16):c.1212G>A (p.Thr404=) rs139129844 0.00438
NM_194323.3(OTOF):c.3621G>A (p.Leu1207=) rs73920281 0.00438
NM_206933.4(USH2A):c.6077A>G (p.Lys2026Arg) rs115039883 0.00438
NM_000552.5(VWF):c.6187C>T (p.Pro2063Ser) rs61750615 0.00437
NM_001164508.2(NEB):c.12667G>A (p.Ala4223Thr) rs12998234 0.00437
NM_000138.5(FBN1):c.1746C>T (p.Cys582=) rs112366266 0.00436
NM_001134363.3(RBM20):c.2655+15A>G rs187915202 0.00436
NM_002473.6(MYH9):c.1083C>T (p.Asp361=) rs56001030 0.00436
NM_004006.3(DMD):c.1718C>T (p.Ala573Val) rs5972599 0.00436
NM_000138.5(FBN1):c.4905C>G (p.Thr1635=) rs113115949 0.00435
NM_002473.6(MYH9):c.2721C>T (p.Thr907=) rs148112044 0.00435
NM_194248.3(OTOF):c.2215-19C>G rs111033427 0.00434
NM_006073.4(TRDN):c.1721-4A>G rs60743141 0.00430
NM_032119.4(ADGRV1):c.5525-7C>T rs137853919 0.00429
NM_000359.3(TGM1):c.125C>A (p.Ser42Tyr) rs41295338 0.00428
NM_001292063.2(OTOG):c.8035C>T (p.Arg2679Cys) rs567966154 0.00428
NM_020297.4(ABCC9):c.142+15dup rs571187142 0.00428
NM_007078.3(LDB3):c.690-4A>G rs45529531 0.00427
NM_012208.4(HARS2):c.868C>T (p.Leu290=) rs73273316 0.00427
NM_014625.4(NPHS2):c.59C>T (p.Pro20Leu) rs74315344 0.00425
NM_004999.4(MYO6):c.3824A>G (p.Tyr1275Cys) rs146461956 0.00424
NM_206933.4(USH2A):c.2546G>A (p.Cys849Tyr) rs111033481 0.00424
NM_020433.5(JPH2):c.380-9C>G rs111987307 0.00423
NM_033056.4(PCDH15):c.5603C>T (p.Thr1868Met) rs191736346 0.00423
NM_001378454.1(ALMS1):c.11821G>A (p.Gly3941Ser) rs61741524 0.00422
NM_206933.4(USH2A):c.9459C>T (p.Cys3153=) rs73090721 0.00422
NM_201384.3(PLEC):c.9423C>T (p.Gly3141=) rs61529674 0.00421
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689 0.00419
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg) rs45549044 0.00419
NM_003036.4(SKI):c.1834C>T (p.Leu612=) rs35833638 0.00418
NM_031475.3(ESPN):c.1104T>G (p.Phe368Leu) rs142638391 0.00418
NM_033380.3(COL4A5):c.1289C>A (p.Ala430Asp) rs142883891 0.00418
NM_001005242.3(PKP2):c.1460T>G (p.Ile487Ser) rs147240502 0.00417
NM_181507.2(HPS5):c.1501G>A (p.Gly501Arg) rs143784823 0.00417
NM_001393500.2(TOMT):c.253G>A (p.Val85Ile) rs181092713 0.00416
NM_002471.4(MYH6):c.622G>A (p.Asp208Asn) rs142027794 0.00415
NM_001369.3(DNAH5):c.2253C>A (p.Asn751Lys) rs115004914 0.00414