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
6512 9257 60 5237 3605 71 562 8679

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 other
pathogenic 2 231 23 1 1 1 0 1 0 0 4 0 0 0
likely pathogenic 367 1 95 4 1 0 0 1 0 0 0 0 1 0
uncertain significance 179 291 23 1843 464 0 0 5 0 0 0 1 2 5
likely benign 8 16 1329 3 1931 0 0 2 0 0 0 0 4 2
benign 12 17 324 2708 31 0 1 3 0 0 0 2 17 5
drug response 2 1 2 0 0 0 0 0 0 0 0 1 0 0
risk factor 7 1 1 1 1 0 1 0 2 1 0 0 0 0

Submitter to submitter summary #

Total submitters: 253
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 9013 0 1646 1420 3 173 3240
Invitae 0 5678 0 869 774 9 161 1813
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2224 0 953 458 1 11 1423
Eurofins Ntd Llc (ga) 0 2595 0 423 728 7 27 1183
CeGaT Center for Human Genetics Tuebingen 0 1719 0 688 397 2 47 1134
PreventionGenetics, part of Exact Sciences 0 4412 0 614 423 1 39 1077
Ambry Genetics 0 3247 0 379 626 1 35 1041
Clinical Genetics, Academic Medical Center 0 1974 0 711 184 0 13 908
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1917 0 555 190 0 25 770
Genetic Services Laboratory, University of Chicago 0 627 0 523 132 0 3 658
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 1123 0 471 91 0 10 572
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 297 0 492 72 0 2 566
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1866 0 359 179 0 25 563
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1952 0 287 186 1 21 495
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 1040 0 343 110 0 11 464
Athena Diagnostics Inc 0 1439 0 289 132 0 5 426
Illumina Laboratory Services, Illumina 0 414 0 228 135 4 26 393
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 484 56 108 174 0 0 338
Revvity Omics, Revvity 0 721 0 39 153 1 24 217
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 156 0 116 33 0 5 154
Quest Diagnostics Nichols Institute San Juan Capistrano 0 185 0 47 75 1 8 131
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 126 0 48 79 0 2 129
Mayo Clinic Laboratories, Mayo Clinic 0 434 0 23 69 0 15 107
OMIM 0 193 0 44 5 34 19 100
Department of Pathology and Laboratory Medicine, Sinai Health System 0 125 0 15 70 1 2 88
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 205 0 56 29 0 2 87
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 167 0 5 48 0 11 64
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 235 0 37 20 0 6 63
Color Diagnostics, LLC DBA Color Health 0 233 0 24 30 0 5 59
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 67 0 16 39 0 1 56
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 66 0 18 28 0 0 46
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 59 0 24 19 0 2 45
Fulgent Genetics, Fulgent Genetics 0 193 0 28 13 1 2 44
Mendelics 0 77 0 18 15 1 3 37
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 57 0 12 21 1 1 35
Baylor Genetics 0 121 0 30 0 2 2 34
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino 0 3 0 0 4 0 30 34
Blueprint Genetics 0 81 0 9 9 0 11 29
CSER _CC_NCGL, University of Washington 0 34 0 4 17 0 1 22
AiLife Diagnostics, AiLife Diagnostics 0 77 0 3 2 0 17 22
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 31 0 8 0 0 13 21
Counsyl 0 37 0 17 0 0 1 18
Genome-Nilou Lab 0 77 0 16 0 0 2 18
NIHR Bioresource Rare Diseases, University of Cambridge 0 7 0 10 0 3 4 17
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 20 0 6 6 0 4 16
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 46 0 7 7 0 1 15
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 53 0 12 0 0 3 15
Center for Medical Genetics Ghent, University of Ghent 0 21 0 13 0 0 2 15
Centre of Medical Genetics, University of Antwerp 0 17 0 15 0 0 0 15
ClinGen Cardiomyopathy Variant Curation Expert Panel 0 32 0 8 0 0 7 15
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto 0 99 0 9 5 0 0 14
Natera, Inc. 0 108 0 11 0 0 2 13
MGZ Medical Genetics Center 0 44 0 10 0 0 2 12
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 25 0 4 3 2 3 12
Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency 0 29 0 4 8 0 0 12
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 2 0 1 1 0 9 11
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 36 0 9 2 0 0 11
Institute of Human Genetics, University of Leipzig Medical Center 0 46 0 7 0 1 3 11
Myriad Genetics, Inc. 0 60 0 9 0 0 2 11
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 20 0 5 4 0 1 10
Department of Ophthalmology and Visual Sciences Kyoto University 0 1 1 7 1 0 0 9
Service de Génétique Moléculaire, Hôpital Robert Debré 0 10 0 2 0 0 6 8
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 42 0 7 0 0 1 8
Center for Human Genetics, University of Leuven 0 28 0 7 0 0 1 8
Forensic Genetics Laboratory, Harris County Institute of Forensic Sciences 0 0 0 0 0 0 8 8
Database of Curated Mutations (DoCM) 0 20 0 8 0 0 0 8
Reproductive Health Research and Development, BGI Genomics 0 20 0 7 0 1 0 8
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 14 0 6 1 0 0 7
3billion 0 46 0 7 0 0 0 7
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 30 0 2 1 0 4 7
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 7 0 3 2 0 1 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 16 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
Yale Center for Mendelian Genomics, Yale University 0 4 0 6 0 0 0 6
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 27 0 2 2 0 2 6
CFTR-France 0 6 0 2 0 0 4 6
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 16 0 5 0 1 0 6
Molecular Genetics, Royal Melbourne Hospital 0 8 0 4 1 0 1 6
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 20 0 3 1 0 1 5
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 7 0 3 2 0 0 5
Clinical Genetics and Genomics, Karolinska University Hospital 0 13 0 1 0 0 4 5
University of Washington Center for Mendelian Genomics, University of Washington 0 2 0 3 0 0 2 5
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 17 0 4 1 0 0 5
Gharavi Laboratory, Columbia University 0 8 0 0 4 0 1 5
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 26 0 2 1 0 2 5
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 7 0 3 0 1 1 5
Institute of Human Genetics, University Hospital Muenster 0 13 0 2 0 0 3 5
New York Genome Center 0 23 0 3 1 0 1 5
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen 0 3 0 0 5 0 0 5
Genomics England Pilot Project, Genomics England 0 7 0 5 0 0 0 5
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 5 0 0 1 0 3 4
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 8 0 3 0 1 0 4
PharmGKB 0 2 0 0 0 4 0 4
Albrecht-Kossel-Institute, Medical University Rostock 0 0 0 0 0 4 0 4
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 1 3 0 0 4
Genetics and Molecular Pathology, SA Pathology 0 32 0 3 0 0 1 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 23 0 2 0 0 2 4
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 1 0 2 1 0 1 4
Leiden Open Variation Database 0 3 0 2 2 0 0 4
Human Genomics Unit, Institute for molecular medicine Finland (FIMM) 0 1 0 1 1 0 2 4
Johns Hopkins Genomics, Johns Hopkins University 0 20 0 4 0 0 0 4
University of Washington Department of Laboratory Medicine, University of Washington 0 12 0 4 0 0 0 4
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 16 0 3 1 0 0 4
DASA 0 25 0 3 0 0 1 4
Institute of Medical Molecular Genetics, University of Zurich 0 1 0 3 0 0 0 3
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 0 31 0 3 0 0 0 3
Division of Human Genetics, Children's Hospital of Philadelphia 0 12 0 3 0 0 0 3
Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire 0 0 0 2 1 0 0 3
Hadassah Hebrew University Medical Center 0 4 0 3 0 0 0 3
Undiagnosed Diseases Network, NIH 0 4 0 0 0 1 2 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 5 0 2 1 0 1 3
Department of Pathology and Molecular Medicine, Queen's University 0 18 0 1 2 0 0 3
Sharon lab, Hadassah-Hebrew University Medical Center 0 8 0 3 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 11 0 1 2 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
Genetics and Genomics Program, Sidra Medicine 0 1 0 1 0 0 2 3
Lifecell International Pvt. Ltd 0 2 0 3 0 0 0 3
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 17 0 1 0 1 0 2
Collagen Diagnostic Laboratory, University of Washington 0 0 0 2 0 0 0 2
Elsea Laboratory, Baylor College of Medicine 0 5 0 0 0 0 2 2
Centogene AG - the Rare Disease Company 0 19 0 1 0 0 1 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 5 0 1 0 1 0 2
GeneReviews 0 88 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 18 0 1 0 1 0 2
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf 0 1 0 2 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 1 0 0 1 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 9 0 2 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 2 0 2 0 0 0 2
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 0 6 0 2 0 0 0 2
Center for Statistical Genetics, Columbia University 0 0 0 1 0 0 1 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 2 0 2 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 3 0 1 0 0 1 2
Phosphorus, Inc. 0 10 0 0 2 0 0 2
Herman Laboratory, Nationwide Children's Hospital 0 2 0 2 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 7 0 2 0 0 0 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 2 0 0 0 2
Section on Medical Neuroendocrinolgy, National Institutes of Health 0 7 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
Inherited Neuropathy Consortium 0 0 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
ClinGen Hearing Loss Variant Curation Expert Panel 0 5 0 1 1 0 0 2
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne 0 2 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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 7 0 2 0 0 0 2
Phenosystems SA 0 0 0 0 0 0 2 2
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 3 0 1 1 0 0 2
Human Genetics Bochum, Ruhr University Bochum 0 2 0 2 0 0 0 2
Molecular Genetics Laboratory - Cardiogenetics, CHU de Nantes 0 4 0 2 0 0 0 2
Arcensus 0 4 0 2 0 0 0 2
Molecular Genetics Laboratory, Institute for Ophthalmic Research 0 3 0 1 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 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 6 0 1 0 0 0 1
Sema4, Sema4 0 1 0 0 0 1 0 1
CFTR2 0 7 0 1 0 0 0 1
UniProtKB/Swiss-Prot 0 3 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 2 0 0 0 0 1 1
GenMed Metabolism Lab 0 0 0 0 0 0 1 1
RettBASE 0 1 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
Pathway Genomics 0 6 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 4 0 0 0 0 1 1
UCLA Clinical Genomics Center, UCLA 0 1 0 1 0 0 0 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
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 0 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 5 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 1 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
Diagnostic Laboratory, Strasbourg University Hospital 0 0 0 0 0 0 1 1
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge 0 0 0 0 0 0 1 1
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 0 0 1 0 0 0 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
Clinical Genetics Laboratory, Region Ostergotland 0 3 0 1 0 0 0 1
Unit for Genetic & Epidemiological Research on Neurological Disorders, Instituto de Investigação e Inovação em Saúde 0 1 0 1 0 0 0 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
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 2 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 8 0 1 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 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 0 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 3 0 1 0 0 0 1
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 0 0 0 1 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 15 0 1 0 0 0 1
Clingen PTEN Variant Curation Expert Panel, Clingen 0 2 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 4 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
Biochemistry Laboratory of CDMU, Chengde Medical University 0 0 0 0 0 0 1 1
deCODE genetics, Amgen 0 2 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 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
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
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 305 0 1 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 0 2 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
Molecular Genetics laboratory, Necker Hospital 0 1 0 0 0 0 1 1
Central Laboratory, The First Hospital of Lanzhou University 0 0 0 0 0 0 1 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 0 0 0 0 0 1 1
Molecular Biology Laboratory, Fundació Puigvert 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
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 6 0 1 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 0 0 0 0 0 0 1 1
Suma Genomics 0 3 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 8 0 1 0 0 0 1
European Hospital Georges Pompidou Genetics Department, Assistance Publique - Hôpitaux de Paris AP-HP 0 0 0 0 0 0 1 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 2 0 1 0 0 0 1
IU Genetic Testing Laboratories, Indiana University School of Medicine 0 0 0 0 0 0 1 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
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 1 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 8 0 1 0 0 0 1
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 0 0 0 0 1 1
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 7 0 0 0 1 0 1
Genomics And Bioinformatics Analysis Resource, Columbia University 0 4 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: 8679
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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_201384.3(PLEC):c.13205C>T (p.Thr4402Met) rs113513807 0.01455
NM_003664.5(AP3B1):c.339A>C (p.Ala113=) rs7706167 0.01450
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) rs121908120 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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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
NM_014000.3(VCL):c.1177-15C>T rs115083446 0.00414
NM_206933.4(USH2A):c.6270A>G (p.Leu2090=) rs56245532 0.00414
NM_001035.3(RYR2):c.7365C>T (p.Asp2455=) rs72549416 0.00413
NM_002458.3(MUC5B):c.2429C>A (p.Thr810Asn) rs190624357 0.00413
NM_002471.4(MYH6):c.4651-12A>C rs193922653 0.00413
NM_016239.4(MYO15A):c.2562C>T (p.Cys854=) rs182293382 0.00413
NM_000091.5(COL4A3):c.3325C>T (p.Pro1109Ser) rs55816283 0.00412
NM_003924.4(PHOX2B):c.450C>G (p.Arg150=) rs17881486 0.00412
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu) rs34997054 0.00411
NM_001384140.1(PCDH15):c.3502-8C>T rs184144118 0.00411
NM_001384474.1(LOXHD1):c.1053G>A (p.Leu351=) rs140842472 0.00409
NM_017433.5(MYO3A):c.1777-14G>T rs4592324 0.00409
NM_007078.3(LDB3):c.352G>A (p.Val118Met) rs35507268 0.00408
NM_206933.4(USH2A):c.12817T>C (p.Tyr4273His) rs79654794 0.00408
NM_000335.5(SCN5A):c.717C>T (p.Ile239=) rs41285129 0.00407
NM_004006.3(DMD):c.7542+13A>G rs72466585 0.00407
NM_000261.2(MYOC):c.1193A>G (p.Lys398Arg) rs56314834 0.00406
NM_001267550.2(TTN):c.59165T>C (p.Val19722Ala) rs116592778 0.00406
NM_001943.5(DSG2):c.266A>G (p.Tyr89Cys) rs2230232 0.00406
NM_000256.3(MYBPC3):c.530G>A (p.Arg177His) rs201012766 0.00405
NM_001267550.2(TTN):c.9359G>A (p.Arg3120Gln) rs72647894 0.00404
NM_001384474.1(LOXHD1):c.457C>T (p.Arg153Cys) rs112618498 0.00404
NM_002294.3(LAMP2):c.1093+2514G>A rs144140265 0.00404
NM_017617.5(NOTCH1):c.4823G>A (p.Arg1608His) rs76371972 0.00404
NM_206933.4(USH2A):c.8937A>G (p.Val2979=) rs139100097 0.00404
NM_001277115.2(DNAH11):c.13495G>A (p.Glu4499Lys) rs143362381 0.00403
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_133379.5(TTN):c.13863G>A (p.Met4621Ile) rs77419653 0.00403
NM_001199799.2(ILDR1):c.1581G>A (p.Gly527=) rs142243054 0.00402
NM_001286445.3(RIPOR2):c.1613C>T (p.Ser538Leu) rs142889670 0.00401
NM_001384140.1(PCDH15):c.2625G>A (p.Ser875=) rs111033516 0.00401
NM_016327.3(UPB1):c.254C>A (p.Ala85Glu) rs34035085 0.00401
NM_001267550.2(TTN):c.72132T>C (p.Gly24044=) rs56169243 0.00400
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu) rs35001569 0.00399
NM_016366.3(CABP2):c.188G>A (p.Arg63Gln) rs149431491 0.00399
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu) rs112306990 0.00398
NM_001267550.2(TTN):c.15850G>A (p.Val5284Met) rs66839174 0.00398
NM_001376256.1(CRYM):c.807T>C (p.Phe269=) rs144588424 0.00398
NM_003664.5(AP3B1):c.2880C>T (p.Ala960=) rs62001052 0.00398
NM_001035.3(RYR2):c.7488C>T (p.Leu2496=) rs143906555 0.00397
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met) rs146882581 0.00396
NM_001286445.3(RIPOR2):c.1773A>C (p.Leu591Phe) rs143785002 0.00396
NM_006005.3(WFS1):c.1675G>A (p.Ala559Thr) rs55814513 0.00396
NM_005422.4(TECTA):c.2781T>C (p.His927=) rs142903119 0.00395
NM_001378454.1(ALMS1):c.6007A>G (p.Ile2003Val) rs7587103 0.00394
NM_032119.4(ADGRV1):c.10796G>C (p.Gly3599Ala) rs145294917 0.00394
NM_001042492.3(NF1):c.3498C>T (p.Gly1166=) rs2066733 0.00392
NM_001292063.2(OTOG):c.2967G>A (p.Pro989=) rs11024331 0.00392
NM_001128840.3(CACNA1D):c.954G>A (p.Ala318=) rs147336902 0.00391
NM_032119.4(ADGRV1):c.8691A>C (p.Glu2897Asp) rs201586455 0.00391
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys) rs35932623 0.00390
NM_000161.3(GCH1):c.68C>T (p.Pro23Leu) rs41298432 0.00389
NM_006005.3(WFS1):c.917T>C (p.Met306Thr) rs146114074 0.00389
NM_001999.4(FBN2):c.5496C>T (p.Arg1832=) rs35346129 0.00388
NM_014391.3(ANKRD1):c.148G>C (p.Ala50Pro) rs28730751 0.00387
NM_000260.4(MYO7A):c.5866G>A (p.Val1956Ile) rs142293185 0.00386
NM_020297.4(ABCC9):c.2631G>A (p.Thr877=) rs139408145 0.00386
NM_022114.4(PRDM16):c.3130C>T (p.Leu1044Phe) rs187400273 0.00386
NM_000091.5(COL4A3):c.3258G>A (p.Gly1086=) rs147085074 0.00385
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_006393.3(NEBL):c.180G>C (p.Lys60Asn) rs41277374 0.00382
NM_032119.4(ADGRV1):c.3956G>A (p.Arg1319Gln) rs73181648 0.00381
NM_032119.4(ADGRV1):c.6318G>A (p.Ala2106=) rs190981860 0.00381
NM_014000.3(VCL):c.1542C>T (p.Val514=) rs7904077 0.00380
NM_001039141.3(TRIOBP):c.265C>G (p.Pro89Ala) rs199646135 0.00379
NM_001267550.2(TTN):c.7740T>G (p.Ile2580Met) rs146590898 0.00379
NM_022124.6(CDH23):c.9015G>A (p.Ala3005=) rs376497158 0.00379
NM_022124.6(CDH23):c.9510+13C>T rs183692794 0.00379
NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile) rs111033269 0.00379
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr) rs72650011 0.00378
NM_001286445.3(RIPOR2):c.1764T>C (p.Asn588=) rs145837095 0.00378
NM_032119.4(ADGRV1):c.14309G>A (p.Arg4770His) rs41304892 0.00378
NM_206933.4(USH2A):c.7130A>G (p.Asn2377Ser) rs111033394 0.00378
NM_000548.5(TSC2):c.4638C>T (p.Ala1546=) rs45517354 0.00377
NM_001267550.2(TTN):c.98242C>T (p.Arg32748Cys) rs72648272 0.00377
NM_002473.6(MYH9):c.2229+13G>T rs139146113 0.00377
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) rs34580776 0.00376
NM_001190417.2(ZNF674):c.586C>T (p.Arg196Ter) rs182004761 0.00376
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_002109.6(HARS1):c.1261C>G (p.Leu421Val) rs34790864 0.00375
NM_001614.5(ACTG1):c.-6-3C>T rs140724578 0.00374
NM_016203.4(PRKAG2):c.1593G>A (p.Arg531=) rs148197254 0.00374
NM_012156.2(EPB41L1):c.1245C>T (p.Pro415=) rs77396561 0.00373
NM_032119.4(ADGRV1):c.4864T>C (p.Tyr1622His) rs111753827 0.00373
NM_000138.5(FBN1):c.306C>T (p.Cys102=) rs25388 0.00372
NM_000335.5(SCN5A):c.1441C>T (p.Arg481Trp) rs144511230 0.00372
NM_001267550.2(TTN):c.25978G>A (p.Val8660Ile) rs141856116 0.00372
NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser) rs55980498 0.00372
NM_032119.4(ADGRV1):c.12269C>A (p.Thr4090Asn) rs199839743 0.00372
NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=) rs35902788 0.00370
NM_024915.4(GRHL2):c.1098+9C>T rs189993760 0.00370
NM_007078.3(LDB3):c.1263G>A (p.Gly421=) rs139834701 0.00369
NM_206933.4(USH2A):c.6257C>A (p.Thr2086Asn) rs149202379 0.00369
NM_022124.6(CDH23):c.6596T>A (p.Ile2199Asn) rs111033494 0.00368
NM_001384474.1(LOXHD1):c.6034G>A (p.Glu2012Lys) rs79045813 0.00367
NM_001035.3(RYR2):c.13566C>T (p.Val4522=) rs57360419 0.00366
NM_006005.3(WFS1):c.225C>T (p.Asp75=) rs35216268 0.00366
NM_153676.4(USH1C):c.946G>C (p.Glu316Gln) rs35336155 0.00366
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala) rs56201325 0.00364
NM_015404.4(WHRN):c.1454C>T (p.Pro485Leu) rs79572315 0.00364
NM_198999.3(SLC26A5):c.1335T>C (p.Ile445=) rs142639517 0.00364
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_001384474.1(LOXHD1):c.1945G>A (p.Asp649Asn) rs141932807 0.00362
NM_000335.5(SCN5A):c.4434+13C>T rs148598985 0.00361
NM_000548.5(TSC2):c.2031C>T (p.Pro677=) rs45517208 0.00361
NM_001378454.1(ALMS1):c.1182T>C (p.Tyr394=) rs139512700 0.00361
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_003924.4(PHOX2B):c.234C>T (p.Tyr78=) rs73810366 0.00361
NM_181078.3(IL21R):c.137C>T (p.Thr46Met) rs137946070 0.00360
NM_000138.5(FBN1):c.3082+8del rs193922196 0.00359
NM_001006630.2(CHRM2):c.691G>A (p.Val231Ile) rs76394680 0.00359
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile) rs34924609 0.00359
NM_017780.4(CHD7):c.8950C>T (p.Leu2984Phe) rs184814820 0.00358
NM_022124.6(CDH23):c.3074G>A (p.Gly1025Asp) rs143179070 0.00358
NM_000384.3(APOB):c.3383G>A (p.Arg1128His) rs12713843 0.00356
NM_000548.5(TSC2):c.2545+26G>A rs45517242 0.00356
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys) rs41303287 0.00356
NM_001114753.3(ENG):c.120C>T (p.Gly40=) rs41522944 0.00355
NM_199242.3(UNC13D):c.2335G>A (p.Val779Met) rs113861754 0.00355
NM_000335.5(SCN5A):c.1017C>T (p.Tyr339=) rs17215493 0.00354
NM_001243133.2(NLRP3):c.1389C>T (p.His463=) rs111400208 0.00354
NM_001267550.2(TTN):c.21173G>A (p.Gly7058Asp) rs72648964 0.00354
NM_001379180.1(ESRRB):c.*1474T>C rs188462546 0.00354
NM_001384474.1(LOXHD1):c.1708G>A (p.Asp570Asn) rs140437150 0.00354
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_006005.3(WFS1):c.2327A>T (p.Glu776Val) rs56002719 0.00354
NM_017780.4(CHD7):c.6282A>G (p.Gly2094=) rs41312172 0.00354
NM_001114753.3(ENG):c.1096G>C (p.Asp366His) rs1800956 0.00353
NM_000335.5(SCN5A):c.1381T>G (p.Leu461Val) rs41313697 0.00352
NM_001042492.3(NF1):c.4577+12C>T rs17878332 0.00352
NM_005422.4(TECTA):c.-1-12T>C rs145916279 0.00352
NM_005633.4(SOS1):c.2997T>C (p.Asn999=) rs145364368 0.00352
NM_000335.5(SCN5A):c.1569T>A (p.Arg523=) rs41313693 0.00351
NM_001378609.3(OTOGL):c.5227T>A (p.Leu1743Ile) rs61729710 0.00351
NM_004252.5(NHERF1):c.673G>A (p.Glu225Lys) rs119486097 0.00351
NM_133261.3(GIPC3):c.225+11C>T rs185551765 0.00351
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_000335.5(SCN5A):c.4506C>T (p.Ser1502=) rs45548237 0.00350
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701 0.00350
NM_001243133.2(NLRP3):c.397+7G>A rs192297357 0.00350
NM_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser) rs145910245 0.00349
NM_000335.5(SCN5A):c.1068T>C (p.Asp356=) rs41313703 0.00349
NM_001105206.3(LAMA4):c.2810A>G (p.Glu937Gly) rs35605307 0.00349
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu) rs59912467 0.00348
NM_001122659.3(EDNRB):c.731C>T (p.Thr244Met) rs5350 0.00348
NM_001195263.2(PDZD7):c.572T>A (p.Val191Glu) rs118098246 0.00348
NM_002206.3(ITGA7):c.2644G>A (p.Glu882Lys) rs144983062 0.00347
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
NM_022124.6(CDH23):c.2954-14G>A rs191534381 0.00347
NM_022124.6(CDH23):c.3845A>G (p.Asn1282Ser) rs149073355 0.00347
NM_206933.4(USH2A):c.15076A>G (p.Lys5026Glu) rs41308435 0.00346
NM_020297.4(ABCC9):c.2523C>T (p.Ala841=) rs144537241 0.00345
NM_080680.3(COL11A2):c.2520G>A (p.Arg840=) rs117237998 0.00345
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621 0.00344
NM_004281.4(BAG3):c.249C>A (p.His83Gln) rs151331972 0.00344
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr) rs118203657 0.00343
NM_001267550.2(TTN):c.75441A>G (p.Lys25147=) rs56151652 0.00343
NM_001267550.2(TTN):c.88394C>T (p.Ser29465Phe) rs146181116 0.00343
NM_206933.4(USH2A):c.15562A>G (p.Ser5188Gly) rs58257972 0.00343
NM_000092.5(COL4A4):c.50A>G (p.Lys17Arg) rs114969026 0.00341
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_022124.6(CDH23):c.9903C>T (p.Pro3301=) rs55717455 0.00341
NM_194248.3(OTOF):c.2215-77T>G rs76130130 0.00341
NM_001080476.3(GRXCR1):c.272G>T (p.Gly91Val) rs113203706 0.00339
NM_005379.4(MYO1A):c.49G>C (p.Glu17Gln) rs141658242 0.00339
NM_080680.3(COL11A2):c.2186G>A (p.Arg729Gln) rs61730262 0.00339
NM_206933.4(USH2A):c.14315C>T (p.Ser4772Phe) rs149222801 0.00339
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167 0.00338
NM_001292063.2(OTOG):c.3683C>T (p.Pro1228Leu) rs117005078 0.00338
NM_005472.5(KCNE3):c.248G>A (p.Arg83His) rs17215437 0.00338
NM_194248.3(OTOF):c.5039G>A (p.Arg1680His) rs11893228 0.00337
NM_000260.4(MYO7A):c.1605C>T (p.Asn535=) rs111033228 0.00336
NM_001146079.2(CLDN14):c.*10G>C rs139628442 0.00336
NM_006393.3(NEBL):c.480+3A>G rs71578983 0.00336
NM_153676.4(USH1C):c.2611G>A (p.Ala871Thr) rs56165709 0.00336
NM_021116.4(ADCY1):c.2327+6T>A rs75860455 0.00335
NM_001199107.2(TBC1D24):c.1500G>A (p.Ala500=) rs201059992 0.00334
NM_001267550.2(TTN):c.10114+5G>A rs115985443 0.00334
NM_001267550.2(TTN):c.10931G>A (p.Ser3644Asn) rs78535378 0.00334
NM_017433.5(MYO3A):c.949G>C (p.Ala317Pro) rs61731652 0.00334
NM_194248.3(OTOF):c.42G>A (p.Arg14=) rs6734111 0.00334
NM_001134363.3(RBM20):c.3373G>A (p.Glu1125Lys) rs116908219 0.00333
NM_133379.5(TTN):c.11741C>G (p.Thr3914Arg) rs116593093 0.00333
NM_000548.5(TSC2):c.729C>G (p.Leu243=) rs45473698 0.00332
NM_001267550.2(TTN):c.14698G>A (p.Ala4900Thr) rs72648923 0.00332
NM_005411.5(SFTPA1):c.342T>C (p.Phe114=) rs1059056 0.00332
NM_133379.5(TTN):c.12067G>A (p.Gly4023Arg) rs143253411 0.00332
NM_016239.4(MYO15A):c.5880C>T (p.His1960=) rs201487604 0.00331
NM_001330691.3(CEP78):c.1780C>A (p.Gln594Lys) rs61730342 0.00328
NM_057176.3(BSND):c.459C>T (p.Asp153=) rs138974602 0.00328
NM_000245.4(MET):c.2908C>T (p.Arg970Cys) rs34589476 0.00327
NM_001378609.3(OTOGL):c.929G>A (p.Gly310Glu) rs186616540 0.00327
NM_004006.3(DMD):c.5182C>T (p.Arg1728Cys) rs34102501 0.00327
NM_004281.4(BAG3):c.1138C>T (p.Pro380Ser) rs144692954 0.00327
NM_004817.4(TJP2):c.2992-8C>T rs143965233 0.00327
NM_206933.4(USH2A):c.15297+3A>G rs57754754 0.00327
NM_206933.4(USH2A):c.4543A>G (p.Thr1515Ala) rs141671082 0.00327
NM_001267550.2(TTN):c.9150A>G (p.Thr3050=) rs72647886 0.00326
NM_016239.4(MYO15A):c.1385G>A (p.Gly462Asp) rs145292219 0.00326
NR_029512.1(MIR96):n.36T>C rs41274239 0.00326
NM_001384140.1(PCDH15):c.2435T>C (p.Ile812Thr) rs61731363 0.00325
NM_001032283.3(TMPO):c.*1A>G rs1058300 0.00324
NM_001134363.3(RBM20):c.2318A>G (p.Lys773Arg) rs181769913 0.00324
NM_001199107.2(TBC1D24):c.1326C>T (p.Tyr442=) rs184639841 0.00324
NM_006329.4(FBLN5):c.620-8T>C rs147699855 0.00324
NM_016239.4(MYO15A):c.1158C>T (p.Gly386=) rs186829587 0.00324
NM_022124.6(CDH23):c.4875G>A (p.Val1625=) rs149664909 0.00324
NM_032119.4(ADGRV1):c.18746T>G (p.Leu6249Arg) rs41311625 0.00324
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_001267550.2(TTN):c.70832C>T (p.Ala23611Val) rs72646891 0.00322
NM_004999.4(MYO6):c.2534C>T (p.Thr845Ile) rs55662069 0.00322
NM_015272.5(RPGRIP1L):c.1340T>C (p.Leu447Ser) rs138155747 0.00322
NM_001098668.4(SFTPA2):c.253C>T (p.Arg85Cys) rs150273659 0.00321
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880 0.00321
NM_005422.4(TECTA):c.690C>T (p.Ile230=) rs34605023 0.00319
NM_000310.4(PPT1):c.363-4G>A rs117284255 0.00318
NM_000501.4(ELN):c.2132G>A (p.Gly711Asp) rs41511151 0.00318
NM_001384140.1(PCDH15):c.1039C>T (p.Leu347Phe) rs111033436 0.00318
NM_004333.6(BRAF):c.1227A>G (p.Ser409=) rs145035762 0.00318
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu) rs71534278 0.00318
NM_001267550.2(TTN):c.26466C>G (p.Ala8822=) rs140003804 0.00317
NM_001267550.2(TTN):c.32743G>C (p.Ala10915Pro) rs72650032 0.00317
NM_001267550.2(TTN):c.73825G>C (p.Glu24609Gln) rs55762754 0.00317
NM_004281.4(BAG3):c.181-9T>A rs139232658 0.00317
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668 0.00317
NM_001267550.2(TTN):c.87808G>A (p.Val29270Ile) rs141624266 0.00316
NM_001368067.1(LDB3):c.546T>C (p.Ser182=) rs71473272 0.00316
NM_001384474.1(LOXHD1):c.5802C>A (p.Asn1934Lys) rs61733519 0.00316
NM_032119.4(ADGRV1):c.18273A>G (p.Ala6091=) rs137853918 0.00316
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) rs34094720 0.00316
NM_000117.3(EMD):c.144C>T (p.Leu48=) rs200537612 0.00315
NM_001292063.2(OTOG):c.639G>T (p.Glu213Asp) rs61736015 0.00315
NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys) rs149736764 0.00315
NM_001384474.1(LOXHD1):c.6270G>A (p.Arg2090=) rs367833904 0.00315
NM_001849.4(COL6A2):c.2351G>A (p.Arg784His) rs75120695 0.00315
NM_000138.5(FBN1):c.8283A>T (p.Thr2761=) rs146120912 0.00314
NM_030930.4(UNC93B1):c.393-10C>T rs117183629 0.00314
NM_181426.2(CCDC39):c.1433A>G (p.Gln478Arg) rs115545935 0.00314
NM_001110219.3(GJB6):c.339T>A (p.Asn113Lys) rs143766955 0.00312
NM_001292063.2(OTOG):c.843G>A (p.Lys281=) rs570688276 0.00312
NM_001399.5(EDA):c.206G>T (p.Arg69Leu) rs132630309 0.00312
NM_007078.3(LDB3):c.147G>A (p.Val49=) rs45591834 0.00312
NM_000336.3(SCNN1B):c.777-5T>C rs61759915 0.00311
NM_000055.2(BCHE):c.1253G>T (p.Gly418Val) rs28933390 0.00310
NM_001267550.2(TTN):c.30231A>G (p.Pro10077=) rs74324101 0.00310
NM_001378454.1(ALMS1):c.10751A>T (p.Gln3584Leu) rs144486524 0.00310
NM_020975.6(RET):c.166C>A (p.Leu56Met) rs145633958 0.00310
NM_001114086.2(CLIC5):c.237A>T (p.Arg79Ser) rs41271277 0.00309
NM_001145809.2(MYH14):c.4586G>A (p.Arg1529His) rs185232438 0.00309
NM_002471.4(MYH6):c.1071C>T (p.Ile357=) rs58131640 0.00309
NM_170707.4(LMNA):c.811-13T>A rs80356809 0.00309
NM_194248.3(OTOF):c.1580-6C>T rs114260271 0.00309
NM_194248.3(OTOF):c.1580-7G>T rs116430138 0.00309
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490 0.00308
NM_001089.3(ABCA3):c.4420C>T (p.Arg1474Trp) rs146709251 0.00308
NM_001277115.2(DNAH11):c.3237T>C (p.Leu1079=) rs72657304 0.00308
NM_001384474.1(LOXHD1):c.6741C>T (p.Ala2247=) rs189873733 0.00308
NM_138691.3(TMC1):c.2260+3_2260+5del rs546307383 0.00308
NM_001267550.2(TTN):c.15584A>G (p.Glu5195Gly) rs72648931 0.00307
NM_001277115.2(DNAH11):c.9935A>T (p.Asp3312Val) rs72657389 0.00307
NM_004006.3(DMD):c.802T>C (p.Leu268=) rs1800264 0.00307
NM_001199107.2(TBC1D24):c.1196C>T (p.Thr399Met) rs61731477 0.00306
NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile) rs187043152 0.00306
NM_015690.5(STK36):c.1158T>C (p.Asp386=) rs55839518 0.00306
NM_022081.6(HPS4):c.250A>G (p.Ile84Val) rs149830675 0.00306
NM_000384.3(APOB):c.7696G>A (p.Glu2566Lys) rs1801696 0.00305
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=) rs17887014 0.00305
NM_001384140.1(PCDH15):c.3717+8G>C rs200556301 0.00305
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682 0.00304
NM_001199107.2(TBC1D24):c.1427C>A (p.Ala476Asp) rs202216463 0.00304
NM_005633.4(SOS1):c.2673+14T>C rs183998234 0.00304
NM_000260.4(MYO7A):c.5324T>C (p.Ile1775Thr) rs115123584 0.00303
NM_001145809.2(MYH14):c.1150G>T (p.Gly384Cys) rs119103280 0.00303
NM_001267550.2(TTN):c.30426C>T (p.Asp10142=) rs147524531 0.00301
NM_001267550.2(TTN):c.61100G>A (p.Arg20367Gln) rs141973925 0.00301
NM_001039213.4(CEACAM16):c.738G>A (p.Thr246=) rs199779296 0.00300
NM_001110219.3(GJB6):c.489G>A (p.Leu163=) rs35002004 0.00300
NM_032383.5(HPS3):c.2055G>A (p.Leu685=) rs140443498 0.00300
NM_000236.3(LIPC):c.1214C>T (p.Thr405Met) rs113298164 0.00299
NM_014908.4(DOLK):c.186G>A (p.Arg62=) rs148171062 0.00299
NM_022124.6(CDH23):c.2878G>A (p.Glu960Lys) rs111033458 0.00299
NM_032119.4(ADGRV1):c.6095C>T (p.Ala2032Val) rs142013761 0.00299
NM_032119.4(ADGRV1):c.8133C>T (p.Ser2711=) rs116446814 0.00299
NM_001378454.1(ALMS1):c.10464A>G (p.Val3488=) rs28730858 0.00297
NM_181507.2(HPS5):c.2537C>T (p.Pro846Leu) rs144875223 0.00297
NM_001378454.1(ALMS1):c.9886A>G (p.Thr3296Ala) rs58806616 0.00296
NM_000260.4(MYO7A):c.4698G>A (p.Thr1566=) rs200207753 0.00295
NM_000492.4(CFTR):c.4242+13A>G rs76179227 0.00295
NM_001079866.2(BCS1L):c.613G>A (p.Val205Ile) rs148278887 0.00295
NM_001267550.2(TTN):c.2765G>A (p.Arg922His) rs56046320 0.00295
NM_001384474.1(LOXHD1):c.1570C>T (p.Arg524Cys) rs192376005 0.00295
NM_003664.5(AP3B1):c.2613C>T (p.His871=) rs144420604 0.00295
NM_022124.6(CDH23):c.7722C>T (p.Tyr2574=) rs111033483 0.00295
NM_206933.4(USH2A):c.12093C>T (p.Tyr4031=) rs55921307 0.00295
NM_000342.4(SLC4A1):c.539G>A (p.Arg180His) rs147390654 0.00294
NM_015404.4(WHRN):c.1365T>C (p.Ser455=) rs111033459 0.00294
NM_001267550.2(TTN):c.23301C>T (p.Ser7767=) rs73038337 0.00293
NM_001267550.2(TTN):c.3409G>C (p.Gly1137Arg) rs72647870 0.00293
NM_001384474.1(LOXHD1):c.2264G>T (p.Gly755Val) rs188517529 0.00293
NM_012208.4(HARS2):c.1105G>C (p.Gly369Arg) rs61736946 0.00293
NM_206933.4(USH2A):c.14454G>A (p.Pro4818=) rs137902779 0.00293
NM_001277115.2(DNAH11):c.8798-5G>A rs189821372 0.00292
NM_002473.6(MYH9):c.5181G>A (p.Leu1727=) rs115170675 0.00292
NM_003672.4(CDC14A):c.1604A>G (p.Gln535Arg) rs113885721 0.00292
NM_007078.3(LDB3):c.163G>A (p.Val55Ile) rs3740343 0.00292
NM_022124.6(CDH23):c.9501G>A (p.Thr3167=) rs144906721 0.00292
NM_024422.6(DSC2):c.1264-5C>T rs183614856 0.00292
NM_001256317.3(TMPRSS3):c.1119C>T (p.Asp373=) rs113747896 0.00291
NM_001292063.2(OTOG):c.7585+12G>A rs538124093 0.00291
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val) rs72552293 0.00291
NM_001031679.3(MSRB3):c.180C>T (p.Thr60=) rs147698935 0.00290
NM_001267550.2(TTN):c.69716-5C>G rs72646886 0.00290
NM_001267550.2(TTN):c.94851T>A (p.Asp31617Glu) rs72648256 0.00290
NM_001292063.2(OTOG):c.1213+14A>C rs143302987 0.00290
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885 0.00290
NM_153676.4(USH1C):c.381G>T (p.Gly127=) rs41282942 0.00290
NM_022124.6(CDH23):c.2970C>T (p.Asp990=) rs56216952 0.00289
NM_000501.4(ELN):c.1828G>A (p.Gly610Ser) rs140425210 0.00288
NM_001267550.2(TTN):c.34864G>A (p.Val11622Ile) rs202014478 0.00288
NM_001943.5(DSG2):c.2211C>T (p.Gly737=) rs74578148 0.00288
NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=) rs7861780 0.00288
NM_007078.3(LDB3):c.2016C>T (p.Cys672=) rs45578640 0.00288
NM_000548.5(TSC2):c.4269G>A (p.Leu1423=) rs45438898 0.00287
NM_001267550.2(TTN):c.47315G>A (p.Arg15772Gln) rs72677233 0.00287
NM_001267550.2(TTN):c.7061G>A (p.Arg2354His) rs75031300 0.00287
NM_001292063.2(OTOG):c.2398G>A (p.Asp800Asn) rs141010212 0.00287
NM_001614.5(ACTG1):c.714G>A (p.Lys238=) rs11549173 0.00287
NM_001614.5(ACTG1):c.780G>A (p.Ala260=) rs140846345 0.00287
NM_018139.3(DNAAF2):c.1953A>G (p.Pro651=) rs34352773 0.00287
NM_000503.6(EYA1):c.840C>A (p.Ile280=) rs55972891 0.00286
NM_001458.5(FLNC):c.4928-7T>C rs201957008 0.00286
NM_003803.4(MYOM1):c.2384+4A>T rs73373171 0.00286
NM_001378454.1(ALMS1):c.1267G>A (p.Val423Ile) rs45630557 0.00285
NM_001386795.1(DTNA):c.243A>G (p.Leu81=) rs146923532 0.00285
NM_001943.5(DSG2):c.2886T>G (p.Ile962Met) rs79229040 0.00285
NM_022124.6(CDH23):c.4045C>T (p.Arg1349Cys) rs41281318 0.00285
NM_000335.5(SCN5A):c.2436+12G>A rs41312419 0.00284
NM_001032283.3(TMPO):c.565+1240G>A rs139700737 0.00284
NM_001943.5(DSG2):c.2586T>C (p.Ser862=) rs78310842 0.00284
NM_002471.4(MYH6):c.2071G>A (p.Val691Ile) rs148915045 0.00284
NM_000501.4(ELN):c.1566T>A (p.Gly522=) rs61734584 0.00283
NM_001035.3(RYR2):c.1218G>A (p.Ser406=) rs147389346 0.00283
NM_001199799.2(ILDR1):c.1326C>A (p.Arg442=) rs148350512 0.00282
NM_001267550.2(TTN):c.94046G>A (p.Arg31349His) rs181104321 0.00282
NM_001369.3(DNAH5):c.5266G>A (p.Glu1756Lys) rs116524991 0.00282
NM_030662.4(MAP2K2):c.846C>T (p.Pro282=) rs11539506 0.00282
NM_000260.4(MYO7A):c.905G>A (p.Arg302His) rs41298135 0.00281
NM_001330691.3(CEP78):c.1566C>T (p.Gly522=) rs199743218 0.00281
NM_005188.4(CBL):c.2345C>T (p.Pro782Leu) rs2229073 0.00281
NM_022124.6(CDH23):c.9204G>A (p.Ala3068=) rs192266658 0.00281
NM_006393.3(NEBL):c.1450-9T>G rs45628140 0.00280
NM_015340.4(LARS2):c.2307C>T (p.Ser769=) rs143838895 0.00280
NM_016203.4(PRKAG2):c.1296G>A (p.Thr432=) rs114079815 0.00280
NM_016239.4(MYO15A):c.4888C>T (p.Arg1630Cys) rs138861831 0.00280
NM_001384474.1(LOXHD1):c.6783G>A (p.Gly2261=) rs115835484 0.00279
NM_006005.3(WFS1):c.353A>C (p.Asp118Ala) rs71524349 0.00279
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp) rs141090143 0.00278
NM_001384140.1(PCDH15):c.4860G>A (p.Thr1620=) rs148772706 0.00278
NM_000059.4(BRCA2):c.68-7T>A rs81002830 0.00277
NM_000257.4(MYH7):c.4788G>A (p.Ser1596=) rs146858930 0.00277
NM_001369.3(DNAH5):c.4510G>C (p.Gly1504Arg) rs143567667 0.00277
NM_000257.4(MYH7):c.2162+4G>A rs145738465 0.00276
NM_000260.4(MYO7A):c.1854G>A (p.Leu618=) rs35429535 0.00276
NM_003803.4(MYOM1):c.2062A>T (p.Thr688Ser) rs188677538 0.00276
NM_020297.4(ABCC9):c.1056C>T (p.Tyr352=) rs149408382 0.00276
NM_203447.4(DOCK8):c.4019A>G (p.Tyr1340Cys) rs116920018 0.00276
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365 0.00275
NM_000257.4(MYH7):c.4452C>T (p.Leu1484=) rs61737803 0.00275
NM_001039876.3(SYNE4):c.*5T>C rs73928380 0.00275
NM_001308093.3(GATA4):c.825C>T (p.Cys275=) rs55980825 0.00275
NM_001371333.1(DIABLO):c.670G>A (p.Gly224Arg) rs150199226 0.00275
NM_001692.4(ATP6V1B1):c.1394G>A (p.Arg465His) rs142905621 0.00275
NM_005141.5(FGB):c.794C>T (p.Pro265Leu) rs6054 0.00275
NM_206933.4(USH2A):c.10858A>G (p.Ile3620Val) rs145207584 0.00275
NM_206933.4(USH2A):c.6041A>C (p.Asn2014Thr) rs147883884 0.00275
NM_000092.5(COL4A4):c.2630G>A (p.Arg877Gln) rs150979437 0.00274
NM_000257.4(MYH7):c.4353+10G>A rs202205780 0.00274
NM_001267550.2(TTN):c.103147G>C (p.Glu34383Gln) rs148525155 0.00274
NM_001267550.2(TTN):c.26863A>G (p.Ile8955Val) rs72648994 0.00274
NM_001267550.2(TTN):c.59315C>T (p.Pro19772Leu) rs72646840 0.00274
NM_006005.3(WFS1):c.2205C>T (p.Tyr735=) rs71530911 0.00274
NM_001018005.2(TPM1):c.180C>T (p.Tyr60=) rs17850194 0.00273
NM_001267550.2(TTN):c.24652A>G (p.Ser8218Gly) rs72648980 0.00273
NM_004817.4(TJP2):c.2636A>G (p.Gln879Arg) rs75450131 0.00273
NM_012208.4(HARS2):c.7C>G (p.Leu3Val) rs186043734 0.00273
NM_198999.3(SLC26A5):c.-13A>C rs142432368 0.00273
NM_000514.4(GDNF):c.277C>T (p.Arg93Trp) rs36119840 0.00272
NM_002109.6(HARS1):c.614G>A (p.Gly205Asp) rs147288996 0.00272
NM_016938.5(EFEMP2):c.368-11G>A rs181514768 0.00272
NM_206933.4(USH2A):c.2510G>A (p.Arg837Gln) rs148594393 0.00272
NM_000038.6(APC):c.4360A>G (p.Lys1454Glu) rs111866410 0.00271
NM_003476.5(CSRP3):c.10T>C (p.Trp4Arg) rs45550635 0.00271
NM_005422.4(TECTA):c.972G>C (p.Val324=) rs147790742 0.00271
NM_032119.4(ADGRV1):c.6317C>T (p.Ala2106Val) rs186999408 0.00271
NM_198999.3(SLC26A5):c.137T>C (p.Leu46Pro) rs141952919 0.00271
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695 0.00270
NM_003036.4(SKI):c.1527C>T (p.Ser509=) rs111935632 0.00270
NM_004415.4(DSP):c.4141A>T (p.Thr1381Ser) rs77758574 0.00270
NM_032119.4(ADGRV1):c.17856+11G>A rs187039736 0.00270
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_000368.5(TSC1):c.2646C>T (p.Ala882=) rs118203720 0.00269
NM_006005.3(WFS1):c.1674C>T (p.Arg558=) rs61735402 0.00269
NM_014391.3(ANKRD1):c.319G>T (p.Val107Leu) rs114435632 0.00269
NM_000441.2(SLC26A4):c.2139T>G (p.Ile713Met) rs143708308 0.00268
NM_194248.3(OTOF):c.2215-80T>C rs143141993 0.00268
NM_000218.3(KCNQ1):c.-5T>C rs532941548 0.00267
NM_000257.4(MYH7):c.4239G>A (p.Ser1413=) rs3729821 0.00267
NM_000335.5(SCN5A):c.486C>T (p.Tyr162=) rs45489099 0.00267
NM_000384.3(APOB):c.8462C>T (p.Pro2821Leu) rs72653095 0.00267
NM_001267550.2(TTN):c.55547T>C (p.Ile18516Thr) rs146608896 0.00267
NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile) rs188807564 0.00267
NM_001384140.1(PCDH15):c.1362C>T (p.Val454=) rs61735479 0.00267
NM_014000.3(VCL):c.3258+10A>T rs71579379 0.00267
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu) rs192129249 0.00267
NM_002485.5(NBN):c.381T>C (p.Ala127=) rs61754795 0.00266
NM_001035.3(RYR2):c.5613C>T (p.Asp1871=) rs116774472 0.00265
NM_001267550.2(TTN):c.76113A>G (p.Glu25371=) rs140350441 0.00265
NM_001267550.2(TTN):c.970C>T (p.Pro324Ser) rs72647845 0.00265
NM_022124.6(CDH23):c.5419G>A (p.Val1807Met) rs143993990 0.00265
NM_139319.3(SLC17A8):c.336T>C (p.Asp112=) rs11568546 0.00265
NM_000059.4(BRCA2):c.6220C>A (p.His2074Asn) rs34309943 0.00264
NM_000092.5(COL4A4):c.5016A>G (p.Glu1672=) rs34761049 0.00264
NM_001035.3(RYR2):c.10254C>T (p.Asn3418=) rs138073811 0.00264
NM_001267550.2(TTN):c.55553A>G (p.Lys18518Arg) rs72646823 0.00264
NM_001614.5(ACTG1):c.471C>T (p.Asp157=) rs11549222 0.00264
NM_005379.4(MYO1A):c.2724+7G>A rs55985817 0.00264
NM_012275.3(IL36RN):c.338C>T (p.Ser113Leu) rs144478519 0.00264
NM_016239.4(MYO15A):c.10242C>T (p.Phe3414=) rs188485743 0.00264
NM_016239.4(MYO15A):c.4779+9G>A rs183256997 0.00264
NM_001267550.2(TTN):c.70952T>G (p.Ile23651Ser) rs149075285 0.00263
NM_001126049.2(KLLN):c.-898G>A rs538728843 0.00262
NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser) rs72648949 0.00262
NM_001267550.2(TTN):c.92537T>C (p.Val30846Ala) rs77968867 0.00262
NM_022124.6(CDH23):c.8808C>T (p.Asp2936=) rs148743086 0.00262
NM_144573.4(NEXN):c.995A>C (p.Glu332Ala) rs201763096 0.00262
NM_001267550.2(TTN):c.64762G>A (p.Gly21588Arg) rs181717727 0.00261
NM_020297.4(ABCC9):c.2093-7T>C rs185235724 0.00261
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His) rs35029074 0.00260
NM_001292063.2(OTOG):c.4238G>A (p.Arg1413Gln) rs143848095 0.00260
NM_015340.4(LARS2):c.2602G>A (p.Glu868Lys) rs34965084 0.00260
NM_002230.4(JUP):c.2025T>C (p.His675=) rs140670556 0.00259
NM_002693.3(POLG):c.948G>A (p.Lys316=) rs61756401 0.00259
NM_016203.4(PRKAG2):c.111T>A (p.Ile37=) rs144426409 0.00259
NM_001039141.3(TRIOBP):c.584C>T (p.Thr195Ile) rs143157673 0.00258
NM_001267550.2(TTN):c.70677T>C (p.Asp23559=) rs72646890 0.00258
NM_002230.4(JUP):c.1159-13C>A rs201627219 0.00258
NM_005477.3(HCN4):c.2275G>A (p.Val759Ile) rs62641689 0.00258
NM_022124.6(CDH23):c.3293A>G (p.Asn1098Ser) rs41281310 0.00258
NM_133379.5(TTN):c.16160G>A (p.Cys5387Tyr) rs72648913 0.00258
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00257
NM_001292063.2(OTOG):c.1104-4A>C rs149163390 0.00257
NM_014000.3(VCL):c.2025G>A (p.Val675=) rs140766884 0.00256
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile) rs146102241 0.00255
NM_001267550.2(TTN):c.84893G>A (p.Arg28298Gln) rs187270666 0.00255
NM_001267550.2(TTN):c.88708A>G (p.Ile29570Val) rs139506970 0.00255
NM_198253.3(TERT):c.1812A>G (p.Ala604=) rs33959226 0.00255
NM_001035.3(RYR2):c.13983C>T (p.Tyr4661=) rs138498780 0.00254
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) rs72648273 0.00253
NM_001375808.2(LPIN2):c.1510C>T (p.Leu504Phe) rs104895500 0.00253
NM_005422.4(TECTA):c.3304G>A (p.Val1102Ile) rs34658230 0.00253
NM_000335.5(SCN5A):c.1890+14G>A rs145427253 0.00252
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281 0.00252
NM_001031679.3(MSRB3):c.486G>A (p.Ala162=) rs35393316 0.00252
NM_001134363.3(RBM20):c.3265C>G (p.Pro1089Ala) rs147356378 0.00252
NM_001267550.2(TTN):c.69383C>A (p.Ser23128Tyr) rs72646882 0.00252
NM_005548.3(KARS1):c.1674C>T (p.Leu558=) rs143267922 0.00252
NM_006393.3(NEBL):c.154-11C>A rs41277376 0.00252
NM_007294.4(BRCA1):c.4987-20A>G rs80358035 0.00252
NM_022114.4(PRDM16):c.100G>A (p.Ala34Thr) rs187194973 0.00252
NM_001267550.2(TTN):c.96501T>C (p.Ser32167=) rs139223781 0.00251
NM_001267550.2(TTN):c.97490T>C (p.Ile32497Thr) rs55660660 0.00251
NM_001267550.2(TTN):c.83740A>G (p.Thr27914Ala) rs188370772 0.00250
NM_000260.4(MYO7A):c.1554+8G>A rs111033227 0.00249
NM_001145809.2(MYH14):c.1034C>G (p.Ser345Cys) rs35315400 0.00249
NM_006005.3(WFS1):c.577A>C (p.Lys193Gln) rs41264699 0.00249
NM_206933.4(USH2A):c.11404G>A (p.Glu3802Lys) rs147900972 0.00249
NM_020297.4(ABCC9):c.407-14C>A rs201279882 0.00248
NM_022124.6(CDH23):c.1307G>A (p.Ser436Asn) rs111033369 0.00248
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) rs11570112 0.00247
NM_000257.4(MYH7):c.3853+7C>T rs45467397 0.00247
NM_001128228.3(TPRN):c.1748A>G (p.Lys583Arg) rs139459217 0.00247
NM_001267550.2(TTN):c.41103C>T (p.Gly13701=) rs72650077 0.00247
NM_001384474.1(LOXHD1):c.4720G>A (p.Glu1574Lys) rs78427072 0.00246
NM_001943.5(DSG2):c.1051A>G (p.Ser351Gly) rs139326669 0.00246
NM_206933.4(USH2A):c.11191G>C (p.Glu3731Gln) rs150264392 0.00246
NM_001267550.2(TTN):c.24820G>A (p.Glu8274Lys) rs72648981 0.00245
NM_004004.6(GJB2):c.-45C>A rs397516868 0.00245
NM_004086.3(COCH):c.1270T>G (p.Tyr424Asp) rs61759484 0.00245
NM_005159.5(ACTC1):c.454+9G>A rs148695567 0.00245
NM_006393.3(NEBL):c.2654C>T (p.Ser885Phe) rs143584663 0.00245
NM_032119.4(ADGRV1):c.3295A>G (p.Thr1099Ala) rs61754947 0.00245
NM_206933.4(USH2A):c.13404A>G (p.Arg4468=) rs146994147 0.00245
NM_001134363.3(RBM20):c.150A>T (p.Pro50=) rs376936285 0.00244
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val) rs35550482 0.00244
NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn) rs138480801 0.00244
NM_001232.4(CASQ2):c.198G>A (p.Thr66=) rs74114618 0.00243
NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln) rs199895260 0.00243
NM_000335.5(SCN5A):c.4821C>T (p.Leu1607=) rs45437099 0.00242
NM_001277115.2(DNAH11):c.11233G>A (p.Glu3745Lys) rs182389910 0.00242
NM_001292063.2(OTOG):c.4022G>A (p.Arg1341Gln) rs145689709 0.00242
NM_001292063.2(OTOG):c.7867G>A (p.Asp2623Asn) rs183470913 0.00242
NM_004447.6(EPS8):c.2230G>A (p.Val744Ile) rs77967764 0.00242
NM_032119.4(ADGRV1):c.7284T>C (p.Asn2428=) rs148932387 0.00242
NM_000337.6(SGCD):c.*2A>C rs200757725 0.00241
NM_004447.6(EPS8):c.2099T>C (p.Ile700Thr) rs111934716 0.00241
NM_016239.4(MYO15A):c.3774C>T (p.Ile1258=) rs148723625 0.00241
NM_000260.4(MYO7A):c.4992C>T (p.Thr1664=) rs181573957 0.00240
NM_001035.3(RYR2):c.4068C>T (p.Pro1356=) rs199821105 0.00240
NM_001267550.2(TTN):c.26682G>A (p.Pro8894=) rs142812510 0.00240
NM_014000.3(VCL):c.1907A>G (p.His636Arg) rs71579374 0.00240
NM_133379.5(TTN):c.13948C>T (p.Pro4650Ser) rs149748934 0.00240
NM_206933.4(USH2A):c.478G>A (p.Gly160Ser) rs111033479 0.00240
NM_001005242.3(PKP2):c.1171-11T>C rs183414126 0.00239
NM_004281.4(BAG3):c.463G>A (p.Ala155Thr) rs61756328 0.00239
NM_006005.3(WFS1):c.2356G>A (p.Gly786Ser) rs71578980 0.00239
NM_017780.4(CHD7):c.3697G>A (p.Gly1233Ser) rs190548814 0.00239
NM_001039141.3(TRIOBP):c.4031G>A (p.Arg1344Gln) rs34066624 0.00238
NM_001042492.3(NF1):c.4269A>G (p.Glu1423=) rs17886566 0.00238
NM_001267550.2(TTN):c.103363C>T (p.Arg34455Cys) rs72629785 0.00238
NM_001267550.2(TTN):c.84461C>T (p.Pro28154Leu) rs200350579 0.00238
NM_001292063.2(OTOG):c.1340A>G (p.Asn447Ser) rs115772736 0.00238
NM_002471.4(MYH6):c.1449C>T (p.Asn483=) rs145447555 0.00238
NM_004999.4(MYO6):c.1224-4A>G rs144031818 0.00238
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353 0.00238
NM_014908.4(DOLK):c.631C>T (p.Arg211Cys) rs145310298 0.00238
NM_020975.6(RET):c.1336G>C (p.Gly446Arg) rs115423919 0.00238
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_001110219.3(GJB6):c.476A>G (p.Asn159Ser) rs35277762 0.00237
NM_194248.3(OTOF):c.245G>A (p.Arg82His) rs149766574 0.00237
NM_006383.4(CIB2):c.462G>A (p.Glu154=) rs117153558 0.00236
NM_022124.6(CDH23):c.4842G>C (p.Leu1614=) rs368377560 0.00236
NM_032119.4(ADGRV1):c.22+9T>C rs368604803 0.00236
NM_001256317.3(TMPRSS3):c.1125C>T (p.Tyr375=) rs111033292 0.00235
NM_001267550.2(TTN):c.101064T>C (p.Asp33688=) rs368168812 0.00235
NM_001267550.2(TTN):c.106857C>T (p.Asn35619=) rs116604145 0.00235
NM_001277115.2(DNAH11):c.3384C>T (p.Ser1128=) rs79955190 0.00235
NM_001378609.3(OTOGL):c.3427A>G (p.Ile1143Val) rs117462138 0.00235
NM_001128840.3(CACNA1D):c.1407C>T (p.Ser469=) rs146730044 0.00234
NM_001267550.2(TTN):c.96108G>A (p.Val32036=) rs372773283 0.00234
NM_153676.4(USH1C):c.403G>A (p.Val135Ile) rs145013633 0.00234
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=) rs148000219 0.00234
NM_001134363.3(RBM20):c.1986G>A (p.Pro662=) rs537723089 0.00233
NM_001267550.2(TTN):c.19150C>A (p.Pro6384Thr) rs72648953 0.00233
NM_001377458.1(CLCC1):c.*2854T>C rs138132875 0.00233
NM_005633.4(SOS1):c.570C>T (p.Asp190=) rs55980502 0.00233
NM_024009.3(GJB3):c.313C>A (p.His105Asn) rs150245955 0.00233
NM_001292063.2(OTOG):c.1397T>G (p.Phe466Cys) rs147355325 0.00232
NM_001384140.1(PCDH15):c.4672-1640A>G rs145178582 0.00232
NM_002471.4(MYH6):c.1275C>T (p.Ile425=) rs61742470 0.00232
NM_006073.4(TRDN):c.430C>T (p.His144Tyr) rs79182520 0.00232
NM_145309.6(LRRC51):c.255C>T (p.Asp85=) rs145851613 0.00232
NM_001005242.3(PKP2):c.2260A>G (p.Thr754Ala) rs112592855 0.00231
NM_002473.6(MYH9):c.7C>G (p.Gln3Glu) rs56200894 0.00231
NM_003000.3(SDHB):c.170A>G (p.His57Arg) rs35962811 0.00231
NM_032119.4(ADGRV1):c.9213C>T (p.Asp3071=) rs56329646 0.00231
NM_001243133.2(NLRP3):c.1920C>T (p.Phe640=) rs34698071 0.00230
NM_080680.3(COL11A2):c.*4C>T rs186720023 0.00230
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927 0.00229
NM_001005242.3(PKP2):c.939C>T (p.Ser313=) rs61729381 0.00229
NM_001256317.3(TMPRSS3):c.957G>C (p.Met319Ile) rs115223836 0.00229
NM_001267550.2(TTN):c.47191C>T (p.Arg15731Cys) rs72677231 0.00229
NM_001277115.2(DNAH11):c.4430T>C (p.Val1477Ala) rs72657320 0.00229
NM_001292063.2(OTOG):c.6074C>T (p.Ala2025Val) rs61736002 0.00229
NM_017780.4(CHD7):c.8790C>T (p.Ala2930=) rs61736186 0.00229
NM_000092.5(COL4A4):c.4217-15T>C rs200926310 0.00228
NM_001035.3(RYR2):c.6555+6G>A rs372661934 0.00228
NM_001105206.3(LAMA4):c.5450T>C (p.Ile1817Thr) rs144482486 0.00228
NM_001267550.2(TTN):c.70815G>A (p.Val23605=) rs55847238 0.00228
NM_001369.3(DNAH5):c.624C>T (p.Asn208=) rs139640247 0.00228
NM_014000.3(VCL):c.1671C>T (p.Asp557=) rs137877092 0.00228
NM_032119.4(ADGRV1):c.7582C>T (p.Pro2528Ser) rs201733037 0.00228
NM_001037.5(SCN1B):c.448+193G>A rs66876876 0.00227
NM_001256789.3(CACNA1F):c.1870G>A (p.Val624Ile) rs141010716 0.00227
NM_001379180.1(ESRRB):c.1120+8C>T rs373429794 0.00226
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
NM_001039141.3(TRIOBP):c.4333A>G (p.Arg1445Gly) rs199640717 0.00225
NM_001267550.2(TTN):c.101245G>A (p.Val33749Met) rs201554140 0.00225
NM_001378454.1(ALMS1):c.1838G>A (p.Gly613Asp) rs148040591 0.00225
NM_024334.3(TMEM43):c.*8C>T rs192707412 0.00225
NM_033056.4(PCDH15):c.5414C>T (p.Pro1805Leu) rs114137983 0.00224
NM_198253.3(TERT):c.969G>A (p.Pro323=) rs148549782 0.00224
NM_000256.3(MYBPC3):c.3004C>T (p.Arg1002Trp) rs3729799 0.00223
NM_001267550.2(TTN):c.14870C>G (p.Thr4957Ser) rs72648925 0.00223
NM_001267550.2(TTN):c.76722T>C (p.Tyr25574=) rs55696153 0.00223
NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met) rs149617776 0.00223
NM_006005.3(WFS1):c.2124C>T (p.Arg708=) rs61735401 0.00223
NM_016938.5(EFEMP2):c.368-4G>A rs111550973 0.00223
NM_000295.5(SERPINA1):c.922G>T (p.Ala308Ser) rs141620200 0.00222
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344 0.00222
NM_001267550.2(TTN):c.47737C>T (p.Leu15913Phe) rs138576504 0.00222
NM_004700.4(KCNQ4):c.1188C>T (p.Pro396=) rs189541861 0.00222
NM_005219.5(DIAPH1):c.1407T>C (p.Ile469=) rs75860159 0.00222
NM_005343.4(HRAS):c.477G>A (p.Leu159=) rs140060409 0.00222
NM_021870.3(FGG):c.323C>G (p.Ala108Gly) rs148685782 0.00222
NM_030662.4(MAP2K2):c.1162C>T (p.Arg388Trp) rs144383241 0.00222
NM_032119.4(ADGRV1):c.463A>G (p.Ile155Val) rs199873924 0.00221
NM_198999.3(SLC26A5):c.1813A>G (p.Thr605Ala) rs142849754 0.00221
NM_000257.4(MYH7):c.297C>T (p.Pro99=) rs140245862 0.00220
NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889 0.00220
NM_016599.5(MYOZ2):c.738A>G (p.Ile246Met) rs140126678 0.00220
NM_033409.4(SLC52A3):c.1047G>A (p.Ser349=) rs147369439 0.00220
NM_198253.3(TERT):c.1574-7G>A rs34846301 0.00220
NM_001267550.2(TTN):c.4199G>C (p.Ser1400Thr) rs138506461 0.00219
NM_001384140.1(PCDH15):c.1181A>G (p.Tyr394Cys) rs148533341 0.00219
NM_080680.3(COL11A2):c.3583-5T>C rs183536190 0.00219
NM_001145809.2(MYH14):c.5227C>T (p.Leu1743=) rs147447646 0.00218
NM_001267550.2(TTN):c.57683G>A (p.Arg19228His) rs114711705 0.00218
NM_001384474.1(LOXHD1):c.5689C>T (p.Leu1897=) rs202043044 0.00218
NM_017433.5(MYO3A):c.1559C>T (p.Ala520Val) rs72787346 0.00218
NM_201384.3(PLEC):c.6069C>G (p.Arg2023=) rs376365984 0.00218
NM_000257.4(MYH7):c.3351G>A (p.Glu1117=) rs45554236 0.00217
NM_001943.5(DSG2):c.2484T>C (p.Asp828=) rs201051252 0.00217
NM_002471.4(MYH6):c.3883G>C (p.Glu1295Gln) rs34935550 0.00217
NM_005633.4(SOS1):c.1230G>A (p.Gln410=) rs141390073 0.00217
NM_020863.4(ZFAT):c.1409C>G (p.Ser470Cys) rs112892337 0.00217
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr) rs41419545 0.00217
NM_001199107.2(TBC1D24):c.785C>T (p.Ser262Leu) rs201060500 0.00216
NM_001267550.2(TTN):c.65092C>T (p.Arg21698Cys) rs72646861 0.00216
NM_001386795.1(DTNA):c.1176-8T>C rs41274310 0.00216
NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp) rs34596189 0.00216
NM_001103.4(ACTN2):c.1341C>T (p.Phe447=) rs34785693 0.00215
NM_001267550.2(TTN):c.32367G>A (p.Lys10789=) rs79232842 0.00215
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=) rs137932254 0.00215
NM_001105206.3(LAMA4):c.5207-14G>C rs112265545 0.00214
NM_016239.4(MYO15A):c.5133+15A>G rs150128469 0.00214
NM_001277115.2(DNAH11):c.10782G>A (p.Pro3594=) rs72657400 0.00213
NM_006393.3(NEBL):c.109T>C (p.Leu37=) rs140734883 0.00213
NM_080680.3(COL11A2):c.353G>C (p.Arg118Pro) rs41268014 0.00213
NM_000077.5(CDKN2A):c.150+37G>C rs45456595 0.00212
NM_001267550.2(TTN):c.1068G>A (p.Glu356=) rs144716589 0.00212
NM_001384474.1(LOXHD1):c.4822G>A (p.Val1608Ile) rs140042576 0.00212
NM_020433.5(JPH2):c.1794C>A (p.Ser598=) rs369883442 0.00212
NM_053025.4(MYLK):c.755-12C>T rs138877679 0.00212
NM_080680.3(COL11A2):c.4041G>A (p.Pro1347=) rs139283268 0.00212
NM_183374.3(CYP26C1):c.845_851dup (p.Gln284fs) rs565866662 0.00212
NM_001035.3(RYR2):c.6555+8C>T rs1759122 0.00211
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys) rs28929470 0.00211
NM_001292063.2(OTOG):c.6893G>A (p.Arg2298His) rs142799217 0.00211
NM_004817.4(TJP2):c.698G>A (p.Arg233Gln) rs150883816 0.00211
NM_016239.4(MYO15A):c.7655-7C>G rs191171943 0.00211
NM_133379.5(TTN):c.11849T>C (p.Ile3950Thr) rs72647897 0.00211
NM_001105206.3(LAMA4):c.195+131C>G rs138579810 0.00210
NM_001145809.2(MYH14):c.3079C>T (p.Leu1027=) rs113152264 0.00210
NM_001292063.2(OTOG):c.5549C>G (p.Pro1850Arg) rs376684690 0.00210
NM_001292063.2(OTOG):c.7693+14A>T rs545542156 0.00210
NM_001378609.3(OTOGL):c.3255T>C (p.Thr1085=) rs138823379 0.00210
NM_006393.3(NEBL):c.604G>A (p.Gly202Arg) rs137973321 0.00210
NM_144991.3(TSPEAR):c.170G>A (p.Arg57Gln) rs151001222 0.00210
NM_170707.4(LMNA):c.1761G>A (p.Leu587=) rs80356813 0.00210
NM_000441.1(SLC26A4):c.-103T>C rs60284988 0.00209
NM_001267550.2(TTN):c.54208A>C (p.Arg18070=) rs138240658 0.00209
NM_001384140.1(PCDH15):c.343G>A (p.Val115Met) rs143570915 0.00209
NM_020297.4(ABCC9):c.3768T>C (p.Leu1256=) rs150303433 0.00209
NM_001005242.3(PKP2):c.972G>A (p.Ala324=) rs142636176 0.00208
NM_001267550.2(TTN):c.289G>A (p.Val97Met) rs185921345 0.00208
NM_001267550.2(TTN):c.73168A>G (p.Thr24390Ala) rs182491843 0.00208
NM_001292063.2(OTOG):c.8476C>T (p.Arg2826Cys) rs191662816 0.00208
NM_001330.5(CTF1):c.591C>G (p.Pro197=) rs397516652 0.00208
NM_001384140.1(PCDH15):c.4671+1109C>T rs145418788 0.00208
NM_002471.4(MYH6):c.3979-7dup rs545343612 0.00208
NM_002471.4(MYH6):c.4401T>G (p.Ser1467=) rs150081280 0.00208
NM_004006.3(DMD):c.3970C>T (p.Arg1324Cys) rs143184877 0.00208
NM_004563.4(PCK2):c.68C>G (p.Ser23Ter) rs61752842 0.00208
NM_016239.4(MYO15A):c.10443G>A (p.Ala3481=) rs190486507 0.00208
NM_000260.4(MYO7A):c.4323+12G>A rs115708951 0.00207
NM_000335.5(SCN5A):c.354C>T (p.His118=) rs45533640 0.00207
NM_001386795.1(DTNA):c.1297C>T (p.His433Tyr) rs139872140 0.00207
NM_005219.5(DIAPH1):c.1985G>A (p.Gly662Asp) rs200735096 0.00207
NM_005422.4(TECTA):c.1812C>T (p.Ser604=) rs138914618 0.00207
NM_198253.3(TERT):c.3105C>T (p.Val1035=) rs181612536 0.00207
NM_000116.5(TAFAZZIN):c.646+14C>T rs191527230 0.00206
NM_000260.4(MYO7A):c.3086A>G (p.His1029Arg) rs60103800 0.00206
NM_001267550.2(TTN):c.31399G>A (p.Val10467Ile) rs72650019 0.00206
NM_001267550.2(TTN):c.87707-4G>T rs201770959 0.00206
NM_003413.4(ZIC3):c.49G>T (p.Gly17Cys) rs147232392 0.00206
NM_022124.6(CDH23):c.5871C>G (p.Pro1957=) rs368122233 0.00206
NM_001035.3(RYR2):c.2760G>A (p.Glu920=) rs186181155 0.00205
NM_001105206.3(LAMA4):c.924T>C (p.His308=) rs143580603 0.00205
NM_001267550.2(TTN):c.9077A>T (p.Asn3026Ile) rs11900987 0.00205
NM_001378609.3(OTOGL):c.3069A>G (p.Gln1023=) rs144125797 0.00205
NM_002700.3(POU4F3):c.378G>A (p.Thr126=) rs113137300 0.00205
NM_006005.3(WFS1):c.854G>A (p.Arg285His) rs61735404 0.00205
NM_014908.4(DOLK):c.771C>T (p.Ile257=) rs147416890 0.00205
NM_016239.4(MYO15A):c.5287C>T (p.Arg1763Trp) rs200146361 0.00205
NM_032119.4(ADGRV1):c.11568T>C (p.Val3856=) rs143004930 0.00205
NM_001195263.2(PDZD7):c.1905G>A (p.Glu635=) rs546907305 0.00204
NM_001267550.2(TTN):c.71705T>C (p.Ile23902Thr) rs55837610 0.00204
NM_005548.3(KARS1):c.1258C>T (p.Arg420Cys) rs77573084 0.00204
NM_006005.3(WFS1):c.482G>A (p.Arg161Gln) rs115346085 0.00204
NM_080680.3(COL11A2):c.4458T>A (p.Gly1486=) rs143186319 0.00204
NM_152594.3(SPRED1):c.926T>C (p.Val309Ala) rs114636635 0.00204
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val) rs139142865 0.00203
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008 0.00203
NM_001035.3(RYR2):c.10324-4A>G rs72751287 0.00203
NM_001039141.3(TRIOBP):c.5588C>T (p.Ala1863Val) rs140528529 0.00203
NM_001122659.3(EDNRB):c.1239C>G (p.Ser413=) rs139317762 0.00203
NM_001267550.2(TTN):c.91937A>G (p.Asn30646Ser) rs72648245 0.00203
NM_001354604.2(MITF):c.880+9C>G rs181810413 0.00203
NM_015340.4(LARS2):c.1692C>T (p.Ala564=) rs149911756 0.00203
NM_022124.6(CDH23):c.6705C>T (p.Ile2235=) rs114827737 0.00203
NM_194248.3(OTOF):c.37C>T (p.Leu13=) rs76180450 0.00203
NM_206933.4(USH2A):c.5932C>T (p.Pro1978Ser) rs75698489 0.00203
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746 0.00202
NM_000601.6(HGF):c.1008G>A (p.Glu336=) rs148714837 0.00202
NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile) rs72677232 0.00202
NM_001267550.2(TTN):c.5231C>T (p.Pro1744Leu) rs75686037 0.00202
NM_006005.3(WFS1):c.1554G>A (p.Met518Ile) rs138232538 0.00202
NM_032119.4(ADGRV1):c.14943G>C (p.Gln4981His) rs200153555 0.00202
NM_033118.4(MYLK2):c.284C>A (p.Ala95Glu) rs121908108 0.00202
NM_001267550.2(TTN):c.46693G>T (p.Ala15565Ser) rs145520397 0.00201
NM_001354604.2(MITF):c.366C>T (p.His122=) rs140663277 0.00201
NM_033337.3(CAV3):c.-1G>A rs74377241 0.00201
NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu) rs121909352 0.00200
NM_001267550.2(TTN):c.69412+10G>C rs72646883 0.00200
NM_004700.4(KCNQ4):c.1292+12G>A rs200426006 0.00200
NM_016929.5(CLIC5):c.341C>A (p.Ala114Glu) rs143360018 0.00200
NM_017950.4(CCDC40):c.1673C>G (p.Thr558Arg) rs191736683 0.00200
NM_133379.5(TTN):c.13347A>G (p.Ile4449Met) rs144539321 0.00200
NM_002471.4(MYH6):c.4416A>G (p.Ser1472=) rs140800076 0.00199
NM_133379.5(TTN):c.10917C>T (p.Gly3639=) rs140804168 0.00199
NM_144672.4(OTOA):c.1522G>A (p.Val508Met) rs150415498 0.00199
NM_181426.2(CCDC39):c.1363-3del rs551191744 0.00199
NM_000258.3(MYL3):c.130-14G>T rs192329378 0.00198
NM_000363.5(TNNI3):c.273G>A (p.Ala91=) rs75491697 0.00198
NM_020975.6(RET):c.337+12G>A rs200468424 0.00198
NM_032578.4(MYPN):c.1893G>A (p.Arg631=) rs145440469 0.00198
NM_133379.5(TTN):c.10648C>T (p.Arg3550Trp) rs141407971 0.00198
NM_000260.4(MYO7A):c.3750+9G>A rs111033252 0.00197
NM_001267550.2(TTN):c.105127C>T (p.Arg35043Cys) rs200378865 0.00197
NM_001378609.3(OTOGL):c.3356T>C (p.Ile1119Thr) rs150426222 0.00197
NM_003803.4(MYOM1):c.461C>T (p.Thr154Met) rs140845661 0.00197
NM_004415.4(DSP):c.4383G>A (p.Glu1461=) rs140029036 0.00197
NM_006005.3(WFS1):c.227G>T (p.Gly76Val) rs200135768 0.00197
NM_016239.4(MYO15A):c.5754T>G (p.Ile1918Met) rs150403702 0.00197
NM_000335.5(SCN5A):c.1681C>T (p.Leu561=) rs45522138 0.00196
NM_001943.5(DSG2):c.3082G>A (p.Gly1028Ser) rs150864240 0.00196
NM_203447.4(DOCK8):c.4024-4C>T rs111306749 0.00196
NM_001042492.3(NF1):c.5035A>G (p.Ile1679Val) rs147327414 0.00195
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro) rs72646873 0.00195
NM_001378609.3(OTOGL):c.3488A>G (p.Asp1163Gly) rs202085918 0.00195
NM_001614.5(ACTG1):c.684C>T (p.Ala228=) rs143125497 0.00195
NM_002473.6(MYH9):c.4396C>T (p.Arg1466Trp) rs139134727 0.00195
NM_004415.4(DSP):c.1488G>A (p.Thr496=) rs35820473 0.00195
NM_032119.4(ADGRV1):c.10126A>G (p.Ile3376Val) rs200528472 0.00195
NM_032119.4(ADGRV1):c.3151G>T (p.Asp1051Tyr) rs145556097 0.00195
NM_053025.4(MYLK):c.4620-6C>T rs113607507 0.00195
NM_001267550.2(TTN):c.28070C>T (p.Thr9357Ile) rs144930507 0.00194
NM_003242.6(TGFBR2):c.1062C>T (p.Leu354=) rs113194608 0.00194
NM_024422.6(DSC2):c.2616C>T (p.Cys872=) rs61731920 0.00194
NM_000368.5(TSC1):c.2865C>T (p.Thr955=) rs45468995 0.00193
NM_001267550.2(TTN):c.22634G>A (p.Arg7545Gln) rs72648969 0.00193
NM_001267550.2(TTN):c.98439G>A (p.Val32813=) rs368487246 0.00193
NM_001330691.3(CEP78):c.1846-1G>C rs146563928 0.00193
NM_001943.5(DSG2):c.6G>A (p.Ala2=) rs368809971 0.00193
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg) rs145169006 0.00193
NM_002473.6(MYH9):c.3485+8C>T rs149559551 0.00193
NM_020297.4(ABCC9):c.1677G>A (p.Ala559=) rs76458291 0.00193
NM_022124.6(CDH23):c.3801C>T (p.Thr1267=) rs56107171 0.00193
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117 0.00192
NM_000899.5(KITLG):c.177C>T (p.Pro59=) rs61924705 0.00192
NM_001039876.3(SYNE4):c.1102G>A (p.Val368Met) rs141202530 0.00192
NM_001267550.2(TTN):c.34769A>G (p.Glu11590Gly) rs201167067 0.00192
NM_032119.4(ADGRV1):c.12527+6G>T rs141701016 0.00192
NM_000059.4(BRCA2):c.231T>G (p.Thr77=) rs114446594 0.00191
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_001031679.3(MSRB3):c.292+11A>G rs200096451 0.00191
NM_016239.4(MYO15A):c.4033A>T (p.Ile1345Leu) rs201234482 0.00191
NM_031427.4(DNAL1):c.415C>G (p.Leu139Val) rs141873943 0.00191
NM_194248.3(OTOF):c.5742G>A (p.Leu1914=) rs141235641 0.00191
NM_000363.5(TNNI3):c.550-10C>T rs201240150 0.00190
NM_000551.4(VHL):c.340+5G>C rs61758376 0.00190
NM_001042492.3(NF1):c.2553C>T (p.Cys851=) rs2230852 0.00190
NM_016239.4(MYO15A):c.8811C>T (p.His2937=) rs200583193 0.00190
NM_133379.5(TTN):c.14754T>G (p.Pro4918=) rs72648908 0.00190
NM_206933.4(USH2A):c.3621C>T (p.Ile1207=) rs146462407 0.00190
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile) rs41303255 0.00190
NM_001005242.3(PKP2):c.706G>T (p.Ala236Ser) rs62001015 0.00189
NM_001042492.3(NF1):c.7531G>C (p.Val2511Leu) rs2230850 0.00189
NM_001267550.2(TTN):c.5823A>G (p.Arg1941=) rs149668487 0.00189
NM_001267550.2(TTN):c.66977A>G (p.Lys22326Arg) rs202125813 0.00189
NM_001927.4(DES):c.324G>A (p.Glu108=) rs138677215 0.00189
NM_002471.4(MYH6):c.4320T>A (p.Ala1440=) rs145566711 0.00189
NM_007078.3(LDB3):c.1460G>A (p.Arg487His) rs146265188 0.00189
NM_032119.4(ADGRV1):c.11201T>C (p.Val3734Ala) rs113498662 0.00189
NM_144991.3(TSPEAR):c.343G>A (p.Asp115Asn) rs144586270 0.00189
NM_198488.5(FAM83H):c.601C>T (p.Gln201Ter) rs189033490 0.00189
NM_001032283.3(TMPO):c.565+1728G>C rs145703021 0.00188
NM_001267550.2(TTN):c.18659G>C (p.Cys6220Ser) rs191692293 0.00188
NM_001267550.2(TTN):c.19738C>T (p.Pro6580Ser) rs116572520 0.00188
NM_001267550.2(TTN):c.4328T>C (p.Leu1443Pro) rs142317580 0.00188
NM_001277115.2(DNAH11):c.58C>A (p.Arg20Ser) rs72655967 0.00188
NM_001292063.2(OTOG):c.8369G>A (p.Arg2790His) rs117315845 0.00188
NM_003803.4(MYOM1):c.2727G>A (p.Pro909=) rs72860212 0.00188
NM_005188.4(CBL):c.1359A>C (p.Pro453=) rs34732429 0.00188
NM_006393.3(NEBL):c.1869+8C>G rs188529864 0.00188
NM_000256.3(MYBPC3):c.565G>A (p.Val189Ile) rs11570052 0.00187
NM_001267550.2(TTN):c.85691A>T (p.Lys28564Ile) rs199859344 0.00187
NM_001378609.3(OTOGL):c.1395-12A>G rs138572593 0.00187
NM_032119.4(ADGRV1):c.7874G>A (p.Arg2625His) rs201214794 0.00187
NM_206933.4(USH2A):c.3123C>A (p.His1041Gln) rs149304901 0.00187
NM_000540.3(RYR1):c.297G>A (p.Thr99=) rs144241486 0.00186
NM_001018116.2(CAVIN4):c.57G>A (p.Ser19=) rs141589872 0.00186
NM_005422.4(TECTA):c.1436C>T (p.Pro479Leu) rs35107075 0.00186
NM_080680.3(COL11A2):c.4392+12C>T rs117267045 0.00186
NM_194248.3(OTOF):c.4800-11C>T rs41286009 0.00186
NM_001267550.2(TTN):c.81539T>C (p.Ile27180Thr) rs182126530 0.00185
NM_004415.4(DSP):c.1206G>A (p.Lys402=) rs150422458 0.00185
NM_006005.3(WFS1):c.2596G>A (p.Asp866Asn) rs3821945 0.00185
NM_016599.5(MYOZ2):c.29A>C (p.Gln10Pro) rs76757102 0.00185
NM_022124.6(CDH23):c.10026C>T (p.Asp3342=) rs377118941 0.00185
NM_080680.3(COL11A2):c.2115+7T>C rs186051366 0.00185
NM_000435.3(NOTCH3):c.509A>G (p.His170Arg) rs147373451 0.00184
NM_001267550.2(TTN):c.18856G>A (p.Val6286Ile) rs149131555 0.00184
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser) rs72648247 0.00184
NM_001943.5(DSG2):c.1550C>T (p.Ala517Val) rs200509948 0.00184
NM_014391.3(ANKRD1):c.208-15G>A rs116511484 0.00184
NM_015404.4(WHRN):c.1627-5T>A rs187221008 0.00184
NM_181507.2(HPS5):c.1635-4C>G rs79009787 0.00184
NM_000441.2(SLC26A4):c.2326C>T (p.Arg776Cys) rs111033255 0.00183
NM_001128840.3(CACNA1D):c.1998G>A (p.Leu666=) rs146747080 0.00183
NM_006005.3(WFS1):c.1530C>T (p.Tyr510=) rs35789242 0.00183
NM_006073.4(TRDN):c.1531C>A (p.Pro511Thr) rs146935076 0.00183
NM_017950.4(CCDC40):c.180G>A (p.Ala60=) rs185006459 0.00183
NM_030662.4(MAP2K2):c.580+6G>A rs201435249 0.00183
NM_153676.4(USH1C):c.2014-1G>A rs150567427 0.00183
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710 0.00182
NM_080680.3(COL11A2):c.4521G>A (p.Gln1507=) rs114580597 0.00182
NM_173477.5(USH1G):c.501C>G (p.Arg167=) rs141688757 0.00182
NM_000260.4(MYO7A):c.6214G>A (p.Val2072Ile) rs200313391 0.00181
NM_001195263.2(PDZD7):c.2943T>C (p.Asp981=) rs569520095 0.00181
NM_001267550.2(TTN):c.14765G>A (p.Ser4922Asn) rs184740744 0.00181
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00181
NM_016929.5(CLIC5):c.508G>C (p.Gly170Arg) rs114149334 0.00181
NM_201596.3(CACNB2):c.1511C>T (p.Thr504Ile) rs143326262 0.00181
NM_000336.3(SCNN1B):c.1765G>A (p.Gly589Ser) rs61759926 0.00180
NM_001195263.2(PDZD7):c.2411C>T (p.Ala804Val) rs397516635 0.00180
NM_004006.3(DMD):c.9682T>C (p.Phe3228Leu) rs141392048 0.00180
NM_004817.4(TJP2):c.2691C>T (p.Pro897=) rs149969431 0.00180
NM_033118.4(MYLK2):c.1458T>C (p.Asp486=) rs111888319 0.00180
NM_133261.3(GIPC3):c.132G>C (p.Ala44=) rs80060313 0.00180
NM_144991.3(TSPEAR):c.44C>T (p.Ala15Val) rs150107590 0.00180
NM_003000.3(SDHB):c.423+20T>A rs190139590 0.00179
NM_005422.4(TECTA):c.701A>G (p.Gln234Arg) rs144682235 0.00179
NM_022124.6(CDH23):c.4210-14A>C rs149441656 0.00179
NM_033118.4(MYLK2):c.1295+4C>A rs113936360 0.00179
NM_000257.4(MYH7):c.480C>T (p.Asn160=) rs45500700 0.00178
NM_000335.5(SCN5A):c.1852C>T (p.Leu618Phe) rs45488304 0.00178
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00178
NM_000441.2(SLC26A4):c.416-7T>C rs111033387 0.00178
NM_001039213.4(CEACAM16):c.95G>T (p.Ser32Ile) rs186687142 0.00178
NM_001039213.4(CEACAM16):c.96C>T (p.Ser32=) rs191552868 0.00178
NM_001105206.3(LAMA4):c.2493+15G>T rs77901141 0.00178
NM_001384474.1(LOXHD1):c.1617G>A (p.Met539Ile) rs143142227 0.00178
NM_001384474.1(LOXHD1):c.5169C>T (p.Tyr1723=) rs114736976 0.00178
NM_001393500.2(TOMT):c.298G>C (p.Ala100Pro) rs76657474 0.00178
NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp) rs148041814 0.00178
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_032119.4(ADGRV1):c.14515C>G (p.Gln4839Glu) rs79464236 0.00178
NM_032119.4(ADGRV1):c.8088G>A (p.Leu2696=) rs373069459 0.00178
NM_080680.3(COL11A2):c.1774-9C>T rs148243956 0.00178
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg) rs35736435 0.00177
NM_000371.4(TTR):c.416C>T (p.Thr139Met) rs28933981 0.00177
NM_001267550.2(TTN):c.29963-13A>G rs72650008 0.00177
NM_001378609.3(OTOGL):c.6283A>G (p.Ile2095Val) rs149249642 0.00177
NM_015404.4(WHRN):c.1305C>T (p.Asn435=) rs150407952 0.00177
NM_016239.4(MYO15A):c.9754A>G (p.Asn3252Asp) rs147458358 0.00177
NM_017780.4(CHD7):c.1179A>G (p.Pro393=) rs111238892 0.00177
NM_032119.4(ADGRV1):c.1522A>C (p.Ile508Leu) rs61744480 0.00177
NM_000256.3(MYBPC3):c.1608T>A (p.Ala536=) rs200224422 0.00176
NM_000503.6(EYA1):c.1200-11C>A rs181457812 0.00176
NM_001195263.2(PDZD7):c.971G>A (p.Ser324Asn) rs200592310 0.00176
NM_001369.3(DNAH5):c.1356G>A (p.Lys452=) rs144748846 0.00176
NM_003803.4(MYOM1):c.3539A>G (p.Asp1180Gly) rs188319622 0.00176
NM_004086.3(COCH):c.841G>A (p.Asp281Asn) rs28362775 0.00176
NM_013296.5(GPSM2):c.2043G>A (p.Ser681=) rs140949805 0.00176
NM_017780.4(CHD7):c.8416C>G (p.Leu2806Val) rs45521933 0.00176
NM_022124.6(CDH23):c.6713-8G>A rs369946986 0.00176
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691 0.00175
NM_001267550.2(TTN):c.103974C>T (p.Ile34658=) rs199714102 0.00175
NM_002471.4(MYH6):c.2293-12C>G rs115453571 0.00175
NM_004281.4(BAG3):c.25A>G (p.Met9Val) rs137965903 0.00175
NM_004999.4(MYO6):c.2635G>A (p.Asp879Asn) rs60970824 0.00175
NM_005450.6(NOG):c.275G>A (p.Gly92Glu) rs199566527 0.00175
NM_012144.4(DNAI1):c.81+5del rs200411544 0.00175
NM_181458.4(PAX3):c.586+57A>G rs202175449 0.00175
NM_001105206.3(LAMA4):c.196-9C>T rs144850734 0.00174
NM_001105206.3(LAMA4):c.5443G>A (p.Val1815Ile) rs3734292 0.00174
NM_001195263.2(PDZD7):c.2538G>C (p.Gly846=) rs111750275 0.00173
NM_001384474.1(LOXHD1):c.3090G>A (p.Thr1030=) rs113994614 0.00173
NM_001943.5(DSG2):c.1652-12C>T rs140850369 0.00173
NM_002906.4(RDX):c.1487C>T (p.Ala496Val) rs74983220 0.00173
NM_004985.5(KRAS):c.-48G>A rs532564755 0.00173
NM_001089.3(ABCA3):c.2125C>T (p.Arg709Trp) rs148671332 0.00172
NM_001267550.2(TTN):c.35264A>C (p.Lys11755Thr) rs189966800 0.00172
NM_002471.4(MYH6):c.2928+5G>A rs28730772 0.00172
NM_206933.4(USH2A):c.14753C>T (p.Thr4918Met) rs56136489 0.00172
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857 0.00171
NM_001039141.3(TRIOBP):c.5886A>G (p.Pro1962=) rs372220018 0.00171
NM_005422.4(TECTA):c.2061C>G (p.Asn687Lys) rs139165033 0.00171
NM_001038603.3(MARVELD2):c.898T>A (p.Leu300Met) rs72773422 0.00170
NM_001089.3(ABCA3):c.2296C>T (p.Pro766Ser) rs45592239 0.00170
NM_001267550.2(TTN):c.104365G>A (p.Glu34789Lys) rs190565627 0.00170
NM_006231.4(POLE):c.4523G>A (p.Arg1508His) rs142508245 0.00170
NM_022124.6(CDH23):c.5753G>A (p.Arg1918Gln) rs115113440 0.00170
NM_153676.4(USH1C):c.674+4G>A rs202095395 0.00170
NM_178335.3(CCDC50):c.1276A>G (p.Lys426Glu) rs114146378 0.00170
NM_181458.4(PAX3):c.873C>T (p.Pro291=) rs141545923 0.00170
NM_194248.3(OTOF):c.2375G>A (p.Arg792Gln) rs144800506 0.00170
NM_016203.4(PRKAG2):c.1098A>G (p.Pro366=) rs116541276 0.00169
NM_000059.4(BRCA2):c.4187A>G (p.Gln1396Arg) rs55969723 0.00168
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_001277115.2(DNAH11):c.12175G>A (p.Ala4059Thr) rs142372794 0.00168
NM_001378609.3(OTOGL):c.6968G>A (p.Arg2323Gln) rs143495342 0.00168
NM_001384474.1(LOXHD1):c.5313C>T (p.Gly1771=) rs373924055 0.00168
NM_001927.4(DES):c.792C>T (p.Asp264=) rs150370918 0.00168
NM_004817.4(TJP2):c.185C>T (p.Thr62Met) rs138241615 0.00168
NM_007078.3(LDB3):c.954C>T (p.Pro318=) rs45603139 0.00168
NM_015340.4(LARS2):c.235-12G>A rs75240042 0.00168
NM_016239.4(MYO15A):c.6785G>A (p.Arg2262His) rs200623501 0.00168
NM_022114.4(PRDM16):c.2506G>A (p.Gly836Ser) rs114204766 0.00168
NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=) rs111033445 0.00168
NM_080680.3(COL11A2):c.329G>A (p.Arg110Gln) rs145960317 0.00168
NM_022114.4(PRDM16):c.1188T>C (p.Cys396=) rs201309284 0.00167
NM_206933.4(USH2A):c.3648C>T (p.Tyr1216=) rs147947402 0.00167
NM_000441.2(SLC26A4):c.1069G>A (p.Ala357Thr) rs145467740 0.00166
NM_005188.4(CBL):c.2484G>A (p.Pro828=) rs149533467 0.00166
NM_001286445.3(RIPOR2):c.3133A>G (p.Thr1045Ala) rs373913240 0.00165
NM_002473.6(MYH9):c.4952T>C (p.Met1651Thr) rs142094977 0.00165
NM_033118.4(MYLK2):c.791C>T (p.Pro264Leu) rs142620954 0.00165
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His) rs45629132 0.00164
NM_001614.5(ACTG1):c.803-6C>T rs199600452 0.00164
NM_005633.4(SOS1):c.3032A>G (p.Asn1011Ser) rs8192671 0.00164
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) rs116840776 0.00164
NM_194248.3(OTOF):c.4980C>T (p.Asp1660=) rs149549554 0.00164
NM_207034.3(EDN3):c.670G>A (p.Ala224Thr) rs11570351 0.00164
NM_001199107.2(TBC1D24):c.1327G>A (p.Glu443Lys) rs141399869 0.00163
NM_001267550.2(TTN):c.40587A>G (p.Glu13529=) rs370597107 0.00163
NM_001267550.2(TTN):c.46880C>T (p.Ala15627Val) rs115813214 0.00163
NM_014476.6(PDLIM3):c.60C>A (p.Gly20=) rs113792127 0.00163
NM_080680.3(COL11A2):c.390G>C (p.Arg130=) rs149638770 0.00163
NM_170682.4(P2RX2):c.211G>A (p.Glu71Lys) rs143664462 0.00163
NM_178335.3(CCDC50):c.1203A>G (p.Lys401=) rs146511344 0.00163
NM_012208.4(HARS2):c.324T>C (p.Tyr108=) rs143687204 0.00162
NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp) rs145499142 0.00162
NM_000352.6(ABCC8):c.3399+13G>A rs182340196 0.00160
NM_001199107.2(TBC1D24):c.1002C>T (p.Ala334=) rs184389316 0.00160
NM_001199107.2(TBC1D24):c.493G>A (p.Gly165Ser) rs200926225 0.00160
NM_005422.4(TECTA):c.1834G>A (p.Asp612Asn) rs143730090 0.00160
NM_005548.3(KARS1):c.1178G>A (p.Arg393Gln) rs149772470 0.00160
NM_006005.3(WFS1):c.1277G>A (p.Cys426Tyr) rs35218685 0.00160
NM_017780.4(CHD7):c.5757C>G (p.Ala1919=) rs79203206 0.00160
NM_022114.4(PRDM16):c.2452G>A (p.Gly818Ser) rs201904226 0.00160
NM_000091.5(COL4A3):c.4445C>T (p.Ala1482Val) rs199755408 0.00159
NM_001199799.2(ILDR1):c.227C>T (p.Ala76Val) rs143072070 0.00159
NM_001232.4(CASQ2):c.421-14G>A rs139281637 0.00159
NM_001267550.2(TTN):c.14004C>T (p.Thr4668=) rs201200682 0.00159
NM_004360.5(CDH1):c.2292C>T (p.Asp764=) rs61747636 0.00159
NM_022114.4(PRDM16):c.1684G>A (p.Val562Ile) rs150395260 0.00159
NM_032119.4(ADGRV1):c.3443G>A (p.Gly1148Asp) rs200945405 0.00159
NM_206933.4(USH2A):c.12557T>C (p.Ile4186Thr) rs112120466 0.00159
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747 0.00158
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile) rs3211299 0.00158
NM_001145809.2(MYH14):c.4685G>A (p.Arg1562Gln) rs140118363 0.00158
NM_001369.3(DNAH5):c.1206T>A (p.Asn402Lys) rs140782270 0.00158
NM_001370.2(DNAH6):c.10233C>G (p.Pro3411=) rs72832550 0.00158
NM_001943.5(DSG2):c.1174G>A (p.Val392Ile) rs193922639 0.00158
NM_003672.4(CDC14A):c.822C>T (p.Ile274=) rs74667145 0.00158
NM_016239.4(MYO15A):c.823G>C (p.Gly275Arg) rs183969516 0.00158
NM_032578.4(MYPN):c.1790G>A (p.Arg597His) rs150911078 0.00158
NM_170707.4(LMNA):c.1851C>T (p.Ala617=) rs143189394 0.00158
NM_206933.4(USH2A):c.13709G>A (p.Arg4570His) rs730254 0.00158
NM_001039141.3(TRIOBP):c.3954C>T (p.Ser1318=) rs200990219 0.00157
NM_003000.3(SDHB):c.300T>C (p.Ser100=) rs11541235 0.00157
NM_004817.4(TJP2):c.3342T>C (p.His1114=) rs61753629 0.00157
NM_015340.4(LARS2):c.255C>T (p.Tyr85=) rs114881088 0.00157
NM_033337.3(CAV3):c.336C>T (p.Ile112=) rs139985460 0.00157
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00156
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423 0.00156
NM_001035.3(RYR2):c.14756+12C>T rs2275693 0.00156
NM_001267550.2(TTN):c.30598+15C>T rs79685525 0.00156
NM_002473.6(MYH9):c.5818G>A (p.Gly1940Arg) rs140588099 0.00156
NM_004415.4(DSP):c.1920C>T (p.Ile640=) rs74806300 0.00156
NM_005633.4(SOS1):c.2988G>A (p.Pro996=) rs35462677 0.00156
NM_017780.4(CHD7):c.2067G>A (p.Thr689=) rs34979623 0.00156
NM_053025.4(MYLK):c.4289-4C>G rs376670657 0.00156
NM_001366722.1(GRIP1):c.2381T>G (p.Met794Arg) rs144494437 0.00155
NM_004004.6(GJB2):c.*3C>A rs111033460 0.00155
NM_080680.3(COL11A2):c.4383C>T (p.Pro1461=) rs148262058 0.00155
NM_001267550.2(TTN):c.58612A>G (p.Thr19538Ala) rs200017524 0.00154
NM_005422.4(TECTA):c.5160C>T (p.Asp1720=) rs142657158 0.00154
NM_006393.3(NEBL):c.267C>G (p.Tyr89Ter) rs147622517 0.00154
NM_032578.4(MYPN):c.1104C>T (p.Gly368=) rs144764983 0.00154
NM_144991.3(TSPEAR):c.900C>T (p.Asn300=) rs139106120 0.00154
NM_001035.3(RYR2):c.4596+12G>A rs148557427 0.00153
NM_001145809.2(MYH14):c.5127+10G>A rs370928889 0.00153
NM_001256317.3(TMPRSS3):c.933C>T (p.Ala311=) rs145235893 0.00153
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe) rs111671438 0.00153
NM_001267550.2(TTN):c.88297G>A (p.Asp29433Asn) rs189202799 0.00153
NM_002471.4(MYH6):c.1763A>C (p.Asp588Ala) rs142992009 0.00153
NM_003803.4(MYOM1):c.1803C>T (p.Pro601=) rs371861150 0.00153
NM_004700.4(KCNQ4):c.1231C>T (p.Arg411Cys) rs199809248 0.00153
NM_006941.4(SOX10):c.822C>T (p.Gly274=) rs147334218 0.00153
NM_014476.6(PDLIM3):c.993C>A (p.Gly331=) rs139493914 0.00153
NM_022114.4(PRDM16):c.201G>A (p.Pro67=) rs199614349 0.00153
NM_080680.3(COL11A2):c.2336C>T (p.Pro779Leu) rs150877886 0.00153
NM_001105206.3(LAMA4):c.4822-3C>T rs191447048 0.00151
NM_001267550.2(TTN):c.98267C>T (p.Thr32756Ile) rs199805060 0.00151
NM_003280.3(TNNC1):c.203-5C>T rs142519988 0.00151
NM_006005.3(WFS1):c.1491C>T (p.Val497=) rs148310584 0.00151
NM_021167.5(GATAD1):c.762G>A (p.Gly254=) rs139637606 0.00151
NM_032119.4(ADGRV1):c.14223C>T (p.Ala4741=) rs61999270 0.00151
NM_001035.3(RYR2):c.2301G>T (p.Ser767=) rs117588730 0.00150
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616 0.00150
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013 0.00150
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu) rs111033218 0.00150
NM_016203.4(PRKAG2):c.1704G>A (p.Thr568=) rs138167675 0.00150
NM_017433.5(MYO3A):c.1275G>A (p.Gln425=) rs77562287 0.00150
NM_001042492.3(NF1):c.846G>A (p.Gln282=) rs138840528 0.00149
NM_001384474.1(LOXHD1):c.5023C>T (p.Arg1675Cys) rs201060702 0.00149
NM_005422.4(TECTA):c.3097C>T (p.Arg1033Trp) rs142486386 0.00149
NM_032119.4(ADGRV1):c.15786C>T (p.Phe5262=) rs369083434 0.00149
NM_000138.5(FBN1):c.8502T>C (p.Thr2834=) rs363847 0.00148
NM_000492.4(CFTR):c.2820T>G (p.Thr940=) rs60887846 0.00148
NM_001005242.3(PKP2):c.2353G>A (p.Asp785Asn) rs151264959 0.00148
NM_001308093.3(GATA4):c.735C>T (p.Tyr245=) rs146696080 0.00148
NM_001363118.2(SLC52A2):c.643C>T (p.Leu215=) rs147954962 0.00148
NM_002471.4(MYH6):c.2890G>T (p.Ala964Ser) rs144907522 0.00148
NM_144991.3(TSPEAR):c.542+14C>T rs200116408 0.00148
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_001267550.2(TTN):c.11254+2T>C rs199565715 0.00147
NM_001365308.1(BMPER):c.220A>G (p.Asn74Asp) rs144030074 0.00147
NM_002458.3(MUC5B):c.8709G>A (p.Ala2903=) rs371299435 0.00147
NM_005219.5(DIAPH1):c.1736G>A (p.Arg579His) rs182139018 0.00147
NM_015404.4(WHRN):c.1048C>T (p.Arg350Trp) rs142990800 0.00147
NM_144991.3(TSPEAR):c.1566+5G>A rs117034581 0.00147
NM_000038.6(APC):c.8068G>A (p.Ala2690Thr) rs140868933 0.00146
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600 0.00146
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu) rs147231991 0.00146
NM_001267550.2(TTN):c.18961A>G (p.Ile6321Val) rs145204073 0.00146
NM_001267550.2(TTN):c.33416G>C (p.Arg11139Thr) rs72650040 0.00146
NM_001267550.2(TTN):c.73336C>T (p.Leu24446=) rs189768015 0.00146
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys) rs199573929 0.00146
NM_002458.3(MUC5B):c.1497C>T (p.Gly499=) rs377351415 0.00146
NM_005422.4(TECTA):c.625-4G>T rs142007879 0.00146
NM_006284.4(TAF10):c.*1210C>T rs145172848 0.00146
NM_012144.4(DNAI1):c.47A>G (p.Gln16Arg) rs148701985 0.00146
NM_016239.4(MYO15A):c.4719G>A (p.Ala1573=) rs186426892 0.00146
NM_206933.4(USH2A):c.486-15C>T rs114194722 0.00146
NM_001039876.3(SYNE4):c.96C>T (p.Thr32=) rs138787817 0.00145
NM_001267550.2(TTN):c.10104T>G (p.Val3368=) rs142460433 0.00145
NM_001267550.2(TTN):c.23232C>G (p.Asn7744Lys) rs72648972 0.00145
NM_002471.4(MYH6):c.3927T>C (p.Ser1309=) rs115742584 0.00145
NM_004817.4(TJP2):c.61-6A>T rs200415824 0.00145
NM_007294.4(BRCA1):c.4600G>A (p.Val1534Met) rs55815649 0.00145
NM_013296.5(GPSM2):c.1739C>T (p.Ser580Leu) rs79730689 0.00145
NM_020433.5(JPH2):c.637C>T (p.Arg213Trp) rs767328866 0.00145
NM_020433.5(JPH2):c.642G>A (p.Ala214=) rs587780956 0.00145
NM_032119.4(ADGRV1):c.15669G>A (p.Gly5223=) rs61741955 0.00145
NM_032119.4(ADGRV1):c.5072C>T (p.Thr1691Met) rs146954342 0.00145
NM_001267550.2(TTN):c.85406C>G (p.Ser28469Cys) rs202040332 0.00144
NM_004281.4(BAG3):c.1587C>T (p.Ala529=) rs149358702 0.00144
NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser) rs79474211 0.00144
NM_017780.4(CHD7):c.1419G>C (p.Gly473=) rs186394299 0.00144
NM_001035.3(RYR2):c.9067+12C>T rs112365440 0.00143
NM_001039141.3(TRIOBP):c.4728T>C (p.Arg1576=) rs112874177 0.00143
NM_001128840.3(CACNA1D):c.6437G>A (p.Arg2146Lys) rs150838215 0.00143
NM_001267550.2(TTN):c.37432C>T (p.Pro12478Ser) rs200992277 0.00143
NM_004004.6(GJB2):c.380G>A (p.Arg127His) rs111033196 0.00143
NM_004086.3(COCH):c.1204A>G (p.Ile402Val) rs28362778 0.00143
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp) rs145933612 0.00143
NM_033118.4(MYLK2):c.4G>A (p.Ala2Thr) rs117502839 0.00143
NM_000548.5(TSC2):c.1276C>T (p.Leu426=) rs45478593 0.00142
NM_001005242.3(PKP2):c.1012A>G (p.Thr338Ala) rs139851304 0.00142
NM_016239.4(MYO15A):c.54G>A (p.Lys18=) rs144909486 0.00142
NM_022124.6(CDH23):c.5312G>A (p.Arg1771Gln) rs111033480 0.00142
NM_000363.5(TNNI3):c.373-15C>G rs192630178 0.00141
NM_001089.3(ABCA3):c.839G>A (p.Arg280His) rs143008553 0.00141
NM_001267550.2(TTN):c.32593G>C (p.Val10865Leu) rs150733188 0.00141
NM_001267550.2(TTN):c.61029T>C (p.Phe20343=) rs6706088 0.00141
NM_001267550.2(TTN):c.65747G>A (p.Arg21916Gln) rs148849567 0.00141
NM_001267550.2(TTN):c.82489G>A (p.Gly27497Arg) rs201158906 0.00141
NM_002471.4(MYH6):c.5400C>T (p.Asp1800=) rs144329079 0.00141
NM_004281.4(BAG3):c.549C>G (p.Ser183=) rs112929734 0.00141
NM_015404.4(WHRN):c.19G>C (p.Gly7Arg) rs572671060 0.00141
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_144573.4(NEXN):c.864+12T>A rs188416492 0.00141
NM_144672.4(OTOA):c.2417A>C (p.Tyr806Ser) rs464691 0.00141
NM_206933.4(USH2A):c.10518G>A (p.Thr3506=) rs114719960 0.00141
NM_000335.5(SCN5A):c.3246C>T (p.Ser1082=) rs111422496 0.00140
NM_001164508.2(NEB):c.23776C>T (p.Pro7926Ser) rs193224180 0.00140
NM_001292063.2(OTOG):c.311A>G (p.Asn104Ser) rs534942001 0.00140
NM_001384140.1(PCDH15):c.4801G>A (p.Gly1601Ser) rs181306086 0.00140
NM_020297.4(ABCC9):c.924T>C (p.Asp308=) rs139127928 0.00140
NM_032119.4(ADGRV1):c.10260C>T (p.Phe3420=) rs113938044 0.00140
NM_000601.6(HGF):c.137C>T (p.Ala46Val) rs150267054 0.00139
NM_002473.6(MYH9):c.705+14C>T rs142552338 0.00139
NM_004415.4(DSP):c.6678T>A (p.Gly2226=) rs149070106 0.00139
NM_016239.4(MYO15A):c.8269G>A (p.Val2757Met) rs140140417 0.00139
NM_000260.4(MYO7A):c.510G>A (p.Leu170=) rs34477144 0.00138
NM_000548.5(TSC2):c.5260-15C>T rs45517416 0.00138
NM_001384140.1(PCDH15):c.4891C>T (p.Leu1631=) rs200155519 0.00138
NM_001384474.1(LOXHD1):c.2914G>A (p.Glu972Lys) rs367630521 0.00138
NM_001384474.1(LOXHD1):c.3024C>T (p.Val1008=) rs370616818 0.00138
NM_005422.4(TECTA):c.3492C>T (p.Thr1164=) rs144012985 0.00138
NM_021116.4(ADCY1):c.2694C>T (p.Asn898=) rs61735492 0.00138
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val) rs151024019 0.00138
NM_031475.3(ESPN):c.1950C>T (p.Gly650=) rs116163286 0.00138
NM_000257.4(MYH7):c.2358G>A (p.Thr786=) rs36211714 0.00137
NM_001039141.3(TRIOBP):c.6741G>A (p.Leu2247=) rs375013523 0.00137
NM_001145809.2(MYH14):c.5573G>A (p.Arg1858His) rs11882073 0.00137
NM_001195263.2(PDZD7):c.370C>T (p.Arg124Trp) rs114917863 0.00137
NM_001267550.2(TTN):c.72782G>A (p.Arg24261Gln) rs142874389 0.00137
NM_001378609.3(OTOGL):c.3213+10C>T rs201373228 0.00137
NM_001943.5(DSG2):c.3295A>G (p.Thr1099Ala) rs79068489 0.00137
NM_005188.4(CBL):c.2190G>C (p.Thr730=) rs143840974 0.00137
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709 0.00137
NM_022114.4(PRDM16):c.3687T>C (p.Ala1229=) rs188634763 0.00137
NM_032119.4(ADGRV1):c.8815C>T (p.Pro2939Ser) rs202211640 0.00137
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_001378609.3(OTOGL):c.1990C>T (p.Pro664Ser) rs76420383 0.00136
NM_004100.5(EYA4):c.783G>A (p.Thr261=) rs17854076 0.00136
NM_007078.3(LDB3):c.1422G>A (p.Ser474=) rs142625982 0.00136
NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys) rs200649500 0.00136
NM_001105206.3(LAMA4):c.1633C>T (p.Arg545Cys) rs138153075 0.00135
NM_006393.3(NEBL):c.2685C>T (p.Asp895=) rs140245727 0.00135
NM_032119.4(ADGRV1):c.3255T>C (p.Asp1085=) rs183447491 0.00135
NM_000218.3(KCNQ1):c.459G>A (p.Thr153=) rs148121889 0.00134
NM_001145809.2(MYH14):c.4094G>A (p.Ser1365Asn) rs202225655 0.00134
NM_001267550.2(TTN):c.66702C>T (p.Ala22234=) rs371802557 0.00134
NM_001267550.2(TTN):c.72137C>T (p.Ala24046Val) rs146767076 0.00134
NM_001267550.2(TTN):c.8938G>A (p.Ala2980Thr) rs72647885 0.00134
NM_001378609.3(OTOGL):c.4906G>A (p.Glu1636Lys) rs143817729 0.00134
NM_002473.6(MYH9):c.5323A>G (p.Lys1775Glu) rs145139708 0.00134
NM_017433.5(MYO3A):c.4462A>G (p.Lys1488Glu) rs34204285 0.00134
NM_153676.4(USH1C):c.1906C>T (p.Arg636Cys) rs149510892 0.00134
NM_194248.3(OTOF):c.367G>A (p.Gly123Ser) rs116314622 0.00134
NM_000258.3(MYL3):c.81T>C (p.Pro27=) rs147584015 0.00133
NM_001039141.3(TRIOBP):c.4139A>G (p.Glu1380Gly) rs202059880 0.00133
NM_001267550.2(TTN):c.13202G>A (p.Arg4401Gln) rs200431386 0.00133
NM_001267550.2(TTN):c.16621+7A>T rs10200398 0.00133
NM_001267550.2(TTN):c.17183-9T>C rs141687561 0.00133
NM_001267550.2(TTN):c.32480C>T (p.Ala10827Val) rs72650030 0.00133
NM_005422.4(TECTA):c.2418G>A (p.Leu806=) rs138185038 0.00133
NM_032119.4(ADGRV1):c.3303A>G (p.Val1101=) rs80069610 0.00133
NM_194248.3(OTOF):c.5063C>T (p.Thr1688Met) rs111033393 0.00133
NM_001035.3(RYR2):c.10641G>A (p.Thr3547=) rs144256966 0.00132
NM_001079866.2(BCS1L):c.775T>A (p.Ser259Thr) rs77729067 0.00132
NM_001267550.2(TTN):c.58869A>G (p.Lys19623=) rs191066933 0.00132
NM_004415.4(DSP):c.3696C>A (p.Ser1232=) rs141120358 0.00132
NM_016239.4(MYO15A):c.4655+11G>A rs117021471 0.00132
NM_000432.4(MYL2):c.279G>A (p.Ala93=) rs28645088 0.00131
NM_001041.4(SI):c.1730T>G (p.Val577Gly) rs121912615 0.00131
NM_001267550.2(TTN):c.77813G>C (p.Trp25938Ser) rs186681106 0.00131
NM_001267550.2(TTN):c.83315A>T (p.Asn27772Ile) rs578191491 0.00131
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly) rs28763965 0.00131
NM_022114.4(PRDM16):c.1426C>T (p.Pro476Ser) rs188908415 0.00131
NM_032119.4(ADGRV1):c.11974G>A (p.Asp3992Asn) rs201386977 0.00131
NM_032119.4(ADGRV1):c.1776C>A (p.Val592=) rs184127858 0.00131
NM_001267550.2(TTN):c.24195C>T (p.Ser8065=) rs182425565 0.00130
NM_001267550.2(TTN):c.29541C>T (p.Phe9847=) rs56812642 0.00130
NM_002471.4(MYH6):c.4782G>A (p.Arg1594=) rs142823394 0.00130
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192 0.00130
NM_015404.4(WHRN):c.33C>G (p.Ser11Arg) rs45527543 0.00130
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys) rs140148105 0.00130
NM_001267550.2(TTN):c.1137A>G (p.Arg379=) rs55972547 0.00129
NM_001267550.2(TTN):c.1938+10G>C rs190935632 0.00129
NM_001267550.2(TTN):c.32555-6T>C rs375742678 0.00129
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr) rs139866691 0.00129
NM_133379.5(TTN):c.14214C>T (p.Thr4738=) rs147513899 0.00129
NM_144991.3(TSPEAR):c.151G>A (p.Val51Ile) rs150016894 0.00129
NM_000256.3(MYBPC3):c.3106C>T (p.Arg1036Cys) rs61729664 0.00128
NM_000371.4(TTR):c.360C>T (p.Ser120=) rs150127220 0.00128
NM_001006630.2(CHRM2):c.773A>G (p.Asn258Ser) rs142006633 0.00128
NM_001267550.2(TTN):c.1002C>T (p.Thr334=) rs148094198 0.00128
NM_001614.5(ACTG1):c.18C>T (p.Ala6=) rs145211830 0.00128
NM_001943.5(DSG2):c.1875G>C (p.Leu625=) rs35743180 0.00128
NM_004999.4(MYO6):c.1025C>T (p.Ala342Val) rs145564837 0.00128
NM_006073.4(TRDN):c.1367A>G (p.Gln456Arg) rs200243235 0.00128
NM_144573.4(NEXN):c.156C>T (p.Asp52=) rs371431782 0.00128
NM_144991.3(TSPEAR):c.1566+12C>T rs199557392 0.00128
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747 0.00127
NM_001038603.3(MARVELD2):c.1407C>T (p.Tyr469=) rs61736168 0.00127
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=) rs55865524 0.00127
NM_001292063.2(OTOG):c.7510G>A (p.Ala2504Thr) rs548278514 0.00127
NM_001378609.3(OTOGL):c.93A>G (p.Ala31=) rs147902353 0.00127
NM_194248.3(OTOF):c.578G>T (p.Arg193Ile) rs139779680 0.00127
NM_000218.3(KCNQ1):c.447C>T (p.Ala149=) rs146436765 0.00126
NM_001038603.3(MARVELD2):c.615C>T (p.Ala205=) rs146796266 0.00126
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro) rs61735272 0.00126
NM_001199107.2(TBC1D24):c.-7C>T rs199852092 0.00126
NM_001378609.3(OTOGL):c.2456C>T (p.Ser819Leu) rs199855270 0.00126
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr) rs72466590 0.00126
NM_004415.4(DSP):c.2346C>T (p.Asp782=) rs139071827 0.00126
NM_017433.5(MYO3A):c.4439-12C>T rs201689300 0.00126
NM_032119.4(ADGRV1):c.1086A>G (p.Leu362=) rs186639101 0.00126
NM_133261.3(GIPC3):c.856G>A (p.Val286Ile) rs138339125 0.00126
NM_206933.4(USH2A):c.8315C>T (p.Thr2772Ile) rs150807452 0.00126
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) rs79204362 0.00125
NM_001267550.2(TTN):c.32186C>T (p.Thr10729Met) rs115119858 0.00125
NM_001267550.2(TTN):c.426C>T (p.Ala142=) rs56137037 0.00125
NM_001384474.1(LOXHD1):c.1244T>G (p.Val415Gly) rs529972175 0.00125
NM_007078.3(LDB3):c.689+10G>A rs45563234 0.00125
NM_057176.3(BSND):c.189C>T (p.Val63=) rs144505461 0.00125
NM_001042492.3(NF1):c.4577+11C>G rs190614908 0.00124
NM_001114753.3(ENG):c.732C>T (p.Pro244=) rs112262663 0.00124
NM_001267550.2(TTN):c.61322A>G (p.Asn20441Ser) rs147580753 0.00124
NM_001379180.1(ESRRB):c.1120+11C>T rs116803435 0.00124
NM_004006.3(DMD):c.5265C>T (p.Pro1755=) rs145515413 0.00124
NM_004415.4(DSP):c.522T>C (p.Cys174=) rs144781697 0.00124
NM_004999.4(MYO6):c.2595C>T (p.Pro865=) rs150876010 0.00124
NM_005992.1(TBX1):c.1010-3495C>T rs72646973 0.00124
NM_006393.3(NEBL):c.624C>T (p.Pro208=) rs111854914 0.00124
NM_022124.6(CDH23):c.3361A>T (p.Ile1121Phe) rs200542052 0.00124
NM_022124.6(CDH23):c.5067+15G>A rs367928867 0.00124
NM_022124.6(CDH23):c.6648C>T (p.Ala2216=) rs186394654 0.00124
NM_153700.2(STRC):c.5200T>C (p.Trp1734Arg) rs200770543 0.00124
NM_000091.5(COL4A3):c.2886C>T (p.Phe962=) rs77846212 0.00123
NM_000414.4(HSD17B4):c.1210-8T>C rs34254740 0.00123
NM_000546.6(TP53):c.139C>T (p.Pro47Ser) rs1800371 0.00123
NM_001035.3(RYR2):c.5586C>T (p.Asp1862=) rs193922628 0.00123
NM_001039141.3(TRIOBP):c.5058C>G (p.Pro1686=) rs113459040 0.00123
NM_001039141.3(TRIOBP):c.5380-14C>T rs182214887 0.00123
NM_001042492.3(NF1):c.1810T>C (p.Leu604=) rs142712751 0.00123
NM_001267550.2(TTN):c.2764C>T (p.Arg922Cys) rs72647862 0.00123
NM_001267550.2(TTN):c.34453+12C>A rs74930148 0.00123
NM_001386795.1(DTNA):c.604-14G>T rs397517447 0.00123
NM_002473.6(MYH9):c.4198C>T (p.Arg1400Trp) rs76368635 0.00123
NM_002524.5(NRAS):c.225C>T (p.Gly75=) rs142739534 0.00123
NM_002755.4(MAP2K1):c.648C>T (p.Ile216=) rs148968935 0.00123
NM_005219.5(DIAPH1):c.1423G>A (p.Glu475Lys) rs193036129 0.00123
NM_006005.3(WFS1):c.2052G>A (p.Ala684=) rs71539668 0.00123
NM_016239.4(MYO15A):c.6186C>A (p.Ala2062=) rs141475629 0.00123
NM_022124.6(CDH23):c.2781C>T (p.Tyr927=) rs375102725 0.00123
NM_032119.4(ADGRV1):c.6608T>C (p.Val2203Ala) rs200055351 0.00123
NM_032578.4(MYPN):c.3481C>A (p.Leu1161Ile) rs138313730 0.00123
NM_170707.4(LMNA):c.1566C>T (p.Cys522=) rs149339264 0.00123
NM_213607.3(CCDC103):c.461A>C (p.His154Pro) rs145457535 0.00123
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr) rs199865688 0.00122
NM_000260.4(MYO7A):c.4845C>A (p.Pro1615=) rs61900036 0.00122
NM_000548.5(TSC2):c.4195G>A (p.Gly1399Arg) rs45466399 0.00122
NM_001114086.2(CLIC5):c.361G>A (p.Ala121Thr) rs189893797 0.00122
NM_001267550.2(TTN):c.105183G>A (p.Ala35061=) rs371075036 0.00122
NM_001267550.2(TTN):c.25134A>G (p.Ala8378=) rs371819104 0.00122
NM_001292063.2(OTOG):c.5252G>A (p.Arg1751His) rs185432248 0.00122
NM_194248.3(OTOF):c.2381G>A (p.Arg794His) rs80356592 0.00122
NM_206933.4(USH2A):c.14276G>A (p.Gly4759Glu) rs112459877 0.00122
NM_000091.5(COL4A3):c.3939G>A (p.Gly1313=) rs141552752 0.00121
NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln) rs139889944 0.00121
NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys) rs202162520 0.00121
NM_001378454.1(ALMS1):c.11745C>T (p.Ser3915=) rs147831309 0.00121
NM_001378609.3(OTOGL):c.3513C>T (p.Gly1171=) rs145834039 0.00121
NM_001378609.3(OTOGL):c.519G>A (p.Ser173=) rs181528168 0.00121
NM_001378609.3(OTOGL):c.917C>T (p.Pro306Leu) rs200050988 0.00121
NM_001384140.1(PCDH15):c.2563C>T (p.Arg855Trp) rs138010738 0.00121
NM_002473.6(MYH9):c.1176G>A (p.Pro392=) rs143316848 0.00121
NM_005188.4(CBL):c.1858C>T (p.Leu620Phe) rs2227988 0.00121
NM_005343.4(HRAS):c.357C>T (p.Asp119=) rs111352454 0.00121
NM_017433.5(MYO3A):c.424C>T (p.His142Tyr) rs140301218 0.00121
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192 0.00121
NM_032119.4(ADGRV1):c.11805C>T (p.Asn3935=) rs144269892 0.00121
NM_206933.4(USH2A):c.11467G>A (p.Val3823Ile) rs142481947 0.00121
NM_000256.3(MYBPC3):c.1564G>A (p.Ala522Thr) rs11570082 0.00120
NM_001145809.2(MYH14):c.1944C>T (p.Asp648=) rs189243324 0.00120
NM_001199138.2(NLRC4):c.2740T>C (p.Leu914=) rs34716166 0.00120
NM_001199799.2(ILDR1):c.1305C>A (p.Ser435Arg) rs35597690 0.00120
NM_001386795.1(DTNA):c.1000G>A (p.Val334Met) rs148123045 0.00120
NM_002471.4(MYH6):c.*8T>C rs201560522 0.00120
NM_022124.6(CDH23):c.2954-15C>T rs376377077 0.00120
NM_033118.4(MYLK2):c.1584G>A (p.Arg528=) rs55807353 0.00120
NM_206933.4(USH2A):c.6364G>T (p.Ala2122Ser) rs142786231 0.00120
NM_001035.3(RYR2):c.4740G>A (p.Pro1580=) rs79811945 0.00119
NM_001035.3(RYR2):c.726C>T (p.Asp242=) rs76380341 0.00119
NM_001267550.2(TTN):c.26439C>T (p.Asn8813=) rs200088963 0.00119
NM_001267550.2(TTN):c.66692G>A (p.Arg22231His) rs200971254 0.00119
NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser) rs141541387 0.00119
NM_002473.6(MYH9):c.1158C>T (p.Thr386=) rs138502859 0.00119
NM_004006.3(DMD):c.5620G>A (p.Glu1874Lys) rs142441725 0.00119
NM_032119.4(ADGRV1):c.207+3A>G rs142356935 0.00119
NM_001128840.3(CACNA1D):c.3168-6C>G rs72556355 0.00118
NM_001267550.2(TTN):c.21779C>A (p.Ser7260Tyr) rs187925021 0.00118
NM_001267550.2(TTN):c.53096G>A (p.Arg17699His) rs72646808 0.00118
NM_000335.5(SCN5A):c.4297-14T>C rs56104887 0.00117
NM_001035.3(RYR2):c.4605G>A (p.Pro1535=) rs201916326 0.00117
NM_001267550.2(TTN):c.60721G>C (p.Glu20241Gln) rs200212521 0.00117
NM_001267550.2(TTN):c.94846C>T (p.Leu31616=) rs72648255 0.00117
NM_007294.4(BRCA1):c.591C>T (p.Cys197=) rs1799965 0.00117
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00117
NM_022114.4(PRDM16):c.2290G>A (p.Val764Met) rs149333409 0.00117
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963 0.00117
NM_198999.3(SLC26A5):c.78G>A (p.Pro26=) rs141436712 0.00117
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_001005361.3(DNM2):c.1218C>T (p.Asp406=) rs147668465 0.00116
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=) rs41267517 0.00116
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys) rs72648958 0.00116
NM_001378609.3(OTOGL):c.860C>T (p.Ser287Leu) rs147195954 0.00116
NM_002471.4(MYH6):c.1122G>A (p.Ala374=) rs148091079 0.00116
NM_002471.4(MYH6):c.4906C>T (p.Arg1636Cys) rs149460065 0.00116
NM_000209.4(PDX1):c.725C>T (p.Pro242Leu) rs193922358 0.00115
NM_000260.4(MYO7A):c.3864C>T (p.Ala1288=) rs144657938 0.00115
NM_000335.5(SCN5A):c.1967C>T (p.Pro656Leu) rs41313681 0.00115
NM_000337.6(SGCD):c.213G>A (p.Arg71=) rs74846539 0.00115
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys) rs201213901 0.00115
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr) rs112215250 0.00115
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190 0.00115
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_032119.4(ADGRV1):c.2023A>C (p.Ile675Leu) rs200187681 0.00115
NM_000335.5(SCN5A):c.1236C>T (p.Val412=) rs45565936 0.00114
NM_001038603.3(MARVELD2):c.389T>A (p.Leu130His) rs144717803 0.00114
NM_001267550.2(TTN):c.98499C>T (p.Leu32833=) rs138968178 0.00114
NM_002473.6(MYH9):c.705+11C>T rs201738304 0.00114
NM_004568.6(SERPINB6):c.708C>T (p.Asp236=) rs144895010 0.00114
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly) rs61730054 0.00113
NM_000138.5(FBN1):c.7950T>C (p.Asn2650=) rs143055643 0.00113
NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=) rs41313033 0.00113
NM_001110219.3(GJB6):c.15G>A (p.Thr5=) rs150075979 0.00113
NM_001267550.2(TTN):c.104774A>C (p.Glu34925Ala) rs201218828 0.00113
NM_001267550.2(TTN):c.34566A>C (p.Glu11522Asp) rs140640738 0.00113
NM_001267550.2(TTN):c.56970T>C (p.Pro18990=) rs372019333 0.00113
NM_001267550.2(TTN):c.90536G>A (p.Arg30179His) rs149567378 0.00113
NM_003673.4(TCAP):c.32C>T (p.Ser11Leu) rs45495192 0.00113
NM_020297.4(ABCC9):c.798T>C (p.Asp266=) rs138356189 0.00113
NM_080680.3(COL11A2):c.4683A>G (p.Thr1561=) rs34055850 0.00113
NM_144573.4(NEXN):c.1618A>G (p.Met540Val) rs201390657 0.00113
NM_194248.3(OTOF):c.3734-13T>C rs368329882 0.00113
NM_001105206.3(LAMA4):c.4665+8G>T rs184220860 0.00112
NM_001134363.3(RBM20):c.1992C>T (p.Pro664=) rs41292592 0.00112
NM_001145472.3(LOXHD1):c.3340G>A (p.Gly1114Arg) rs142931455 0.00112
NM_002473.6(MYH9):c.2448C>T (p.Cys816=) rs113285582 0.00112
NM_080680.3(COL11A2):c.1612-10G>C rs182657680 0.00112
NM_133379.5(TTN):c.14492G>A (p.Cys4831Tyr) rs150615457 0.00112
NM_144672.4(OTOA):c.2431+11T>C rs463192 0.00112
NM_153676.4(USH1C):c.2184+12C>T rs138547759 0.00112
NM_206933.4(USH2A):c.2094C>T (p.Thr698=) rs141489104 0.00112
NM_001267550.2(TTN):c.13859G>A (p.Gly4620Asp) rs55857742 0.00111
NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser) rs184412722 0.00111
NM_001267550.2(TTN):c.8314G>A (p.Val2772Met) rs143035953 0.00111
NM_001267550.2(TTN):c.89994G>A (p.Ser29998=) rs142891278 0.00111
NM_001378609.3(OTOGL):c.2564C>T (p.Pro855Leu) rs183159689 0.00111
NM_001384474.1(LOXHD1):c.4217C>T (p.Ala1406Val) rs146739496 0.00111
NM_014476.6(PDLIM3):c.387G>A (p.Pro129=) rs138670107 0.00111
NM_017433.5(MYO3A):c.1566A>C (p.Gly522=) rs139121564 0.00111
NM_000249.4(MLH1):c.-28A>G rs56198082 0.00110
NM_000307.5(POU3F4):c.139C>T (p.Pro47Ser) rs144417952 0.00110
NM_001267550.2(TTN):c.107605A>G (p.Ser35869Gly) rs201835888 0.00110
NM_001267550.2(TTN):c.49371A>T (p.Leu16457=) rs146163169 0.00110
NM_001267550.2(TTN):c.49919G>C (p.Ser16640Thr) rs55663050 0.00110
NM_001267550.2(TTN):c.5668C>T (p.Arg1890Cys) rs146496197 0.00110
NM_001267550.2(TTN):c.66898G>A (p.Val22300Ile) rs200343420 0.00110
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp) rs201043950 0.00110
NM_001378609.3(OTOGL):c.6229T>G (p.Cys2077Gly) rs145929269 0.00110
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser) rs143978652 0.00110
NM_002691.4(POLD1):c.2275G>A (p.Val759Ile) rs145473716 0.00110
NM_004086.3(COCH):c.629+5C>T rs202109231 0.00110
NM_004817.4(TJP2):c.1877C>G (p.Thr626Ser) rs149911553 0.00110
NM_006941.4(SOX10):c.72C>T (p.Ser24=) rs763019569 0.00110
NM_016239.4(MYO15A):c.9691-3C>A rs142996507 0.00110
NM_133261.3(GIPC3):c.4G>A (p.Glu2Lys) rs764467903 0.00110
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=) rs363824 0.00109
NM_001267550.2(TTN):c.107700A>G (p.Glu35900=) rs55832587 0.00109
NM_001267550.2(TTN):c.15563A>C (p.Gln5188Pro) rs72648930 0.00109
NM_001267550.2(TTN):c.57648C>T (p.Ile19216=) rs55956577 0.00109
NM_004130.4(GYG1):c.304G>C (p.Asp102His) rs143137713 0.00109
NM_181426.2(CCDC39):c.1781C>T (p.Thr594Ile) rs140505857 0.00109
NM_000384.3(APOB):c.2068-4T>A rs41291161 0.00108
NM_001134363.3(RBM20):c.530C>T (p.Thr177Ile) rs183130427 0.00108
NM_001267550.2(TTN):c.12986G>A (p.Arg4329Lys) rs199560188 0.00108
NM_001267550.2(TTN):c.13287T>C (p.Ala4429=) rs370604524 0.00108
NM_001267550.2(TTN):c.15542G>C (p.Gly5181Ala) rs201185434 0.00108
NM_001267550.2(TTN):c.16055-9A>C rs368897883 0.00108
NM_001267550.2(TTN):c.16422A>G (p.Gln5474=) rs371026448 0.00108
NM_001267550.2(TTN):c.91565-13C>T rs200847757 0.00108
NM_001267550.2(TTN):c.91765G>A (p.Ala30589Thr) rs148617456 0.00108
NM_001267550.2(TTN):c.95148C>T (p.Thr31716=) rs140663434 0.00108
NM_001267550.2(TTN):c.95297C>T (p.Ser31766Phe) rs191484894 0.00108
NM_001384474.1(LOXHD1):c.177G>A (p.Thr59=) rs116413527 0.00108
NM_002471.4(MYH6):c.2430-14C>T rs190342289 0.00108
NM_004415.4(DSP):c.2986-6T>A rs144748036 0.00108
NM_022124.6(CDH23):c.8256C>T (p.Gly2752=) rs372846962 0.00108
NM_057176.3(BSND):c.177+15G>C rs193020037 0.00108
NM_206933.4(USH2A):c.5612G>A (p.Gly1871Asp) rs140895792 0.00108
NM_000091.5(COL4A3):c.1886C>T (p.Thr629Met) rs139361545 0.00107
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730 0.00107
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val) rs146429605 0.00107
NM_001103.4(ACTN2):c.441G>A (p.Ser147=) rs150182164 0.00107
NM_001128840.3(CACNA1D):c.2467G>A (p.Val823Met) rs35090700 0.00107
NM_001134363.3(RBM20):c.3170G>A (p.Arg1057Gln) rs188054898 0.00107
NM_001267550.2(TTN):c.12733A>C (p.Asn4245His) rs199652066 0.00107
NM_001267550.2(TTN):c.17300G>A (p.Ser5767Asn) rs200692495 0.00107
NM_001267550.2(TTN):c.41166C>T (p.Asp13722=) rs143049740 0.00107
NM_001267550.2(TTN):c.64789G>A (p.Val21597Met) rs150661999 0.00107
NM_001614.5(ACTG1):c.72C>T (p.Asp24=) rs139517777 0.00107
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750 0.00107
NM_206933.4(USH2A):c.5624A>G (p.Asn1875Ser) rs141609561 0.00107
NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His) rs187705120 0.00106
NM_000337.6(SGCD):c.144G>C (p.Val48=) rs372152495 0.00106
NM_001103.4(ACTN2):c.1383C>T (p.Ile461=) rs34827377 0.00106
NM_001267550.2(TTN):c.101891G>A (p.Arg33964His) rs55669553 0.00106
NM_001267550.2(TTN):c.25490G>A (p.Arg8497His) rs149855485 0.00106
NM_001267550.2(TTN):c.41958A>G (p.Ala13986=) rs186699871 0.00106
NM_001267550.2(TTN):c.47545C>A (p.Pro15849Thr) rs146181477 0.00106
NM_001614.5(ACTG1):c.531T>C (p.Arg177=) rs143851458 0.00106
NM_006005.3(WFS1):c.96G>A (p.Ser32=) rs71539660 0.00106
NM_022124.6(CDH23):c.9670C>T (p.Arg3224Trp) rs111033457 0.00106
NM_201253.3(CRB1):c.484G>A (p.Val162Met) rs137853138 0.00106
NM_000368.5(TSC1):c.-7C>T rs62621221 0.00105
NM_001035.3(RYR2):c.1143C>T (p.Ser381=) rs368844286 0.00105
NM_001039213.4(CEACAM16):c.508G>A (p.Ala170Thr) rs200297676 0.00105
NM_001128840.3(CACNA1D):c.1344C>T (p.Ile448=) rs145203578 0.00105
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519 0.00105
NM_001267550.2(TTN):c.61138C>A (p.Leu20380Met) rs201167216 0.00105
NM_001267550.2(TTN):c.63165G>A (p.Pro21055=) rs72646852 0.00105
NM_001267550.2(TTN):c.91589C>T (p.Pro30530Leu) rs200875379 0.00105
NM_016239.4(MYO15A):c.1552G>A (p.Glu518Lys) rs189255177 0.00105
NM_022124.6(CDH23):c.2865C>T (p.Arg955=) rs79636933 0.00105
NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala) rs113107803 0.00105
NM_000321.3(RB1):c.1961-12T>C rs201697122 0.00104
NM_000371.4(TTR):c.417G>A (p.Thr139=) rs2276382 0.00104
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser) rs147213895 0.00104
NM_001042702.5(PJVK):c.86A>G (p.Asp29Gly) rs200502817 0.00104
NM_001267550.2(TTN):c.20175A>G (p.Ile6725Met) rs146627500 0.00104
NM_001267550.2(TTN):c.24150C>T (p.Ser8050=) rs185062935 0.00104
NM_001267550.2(TTN):c.29605-12T>C rs143352892 0.00104
NM_001267550.2(TTN):c.30384T>C (p.Asp10128=) rs188584219 0.00104
NM_001267550.2(TTN):c.45175G>A (p.Ala15059Thr) rs144668626 0.00104
NM_001267550.2(TTN):c.82560C>A (p.Asn27520Lys) rs56264840 0.00104
NM_001927.4(DES):c.18G>A (p.Ser6=) rs199972656 0.00104
NM_005422.4(TECTA):c.1085G>T (p.Ser362Ile) rs149001418 0.00104
NM_017433.5(MYO3A):c.1500G>A (p.Ala500=) rs146797033 0.00104
NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile) rs139399951 0.00104
NM_032119.4(ADGRV1):c.4214C>T (p.Ser1405Phe) rs41305898 0.00104
NM_198999.3(SLC26A5):c.1233+14A>G rs191459658 0.00104
NM_000503.6(EYA1):c.1141-15T>G rs186249248 0.00103
NM_001035.3(RYR2):c.1296C>A (p.Gly432=) rs184176405 0.00103
NM_001267550.2(TTN):c.101406C>G (p.Val33802=) rs55802460 0.00103
NM_001267550.2(TTN):c.106638G>A (p.Arg35546=) rs56324602 0.00103
NM_001267550.2(TTN):c.20630T>C (p.Ile6877Thr) rs142794598 0.00103
NM_001267550.2(TTN):c.22692A>T (p.Thr7564=) rs187182557 0.00103
NM_001267550.2(TTN):c.72624A>G (p.Pro24208=) rs56293906 0.00103
NM_001267550.2(TTN):c.81247T>C (p.Ser27083Pro) rs186273940 0.00103
NM_001267550.2(TTN):c.90826T>G (p.Cys30276Gly) rs150430592 0.00103
NM_001267550.2(TTN):c.94283G>A (p.Arg31428His) rs149375775 0.00103
NM_001292063.2(OTOG):c.6012C>T (p.Asp2004=) rs61734252 0.00103
NM_001384474.1(LOXHD1):c.3673A>G (p.Ser1225Gly) rs370149278 0.00103
NM_002755.4(MAP2K1):c.1137C>T (p.Ile379=) rs150841154 0.00103
NM_004415.4(DSP):c.8455A>C (p.Met2819Leu) rs138329459 0.00103
NM_005422.4(TECTA):c.4788C>T (p.Ile1596=) rs150561147 0.00103
NM_080680.3(COL11A2):c.5000G>A (p.Arg1667His) rs146555195 0.00103
NM_206933.4(USH2A):c.2256T>C (p.His752=) rs111033281 0.00103
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp) rs146632606 0.00102
NM_001134363.3(RBM20):c.1602C>T (p.Asp534=) rs76048624 0.00102
NM_001134363.3(RBM20):c.280C>T (p.Leu94=) rs182768779 0.00102
NM_001267550.2(TTN):c.102595A>G (p.Ile34199Val) rs56347248 0.00102
NM_001267550.2(TTN):c.21668G>A (p.Arg7223His) rs138853909 0.00102
NM_001267550.2(TTN):c.49998T>C (p.Asn16666=) rs376917681 0.00102
NM_001267550.2(TTN):c.80701A>G (p.Ile26901Val) rs201562505 0.00102
NM_001267550.2(TTN):c.82691C>T (p.Ala27564Val) rs55634791 0.00102
NM_001378454.1(ALMS1):c.11641C>T (p.His3881Tyr) rs142278066 0.00102
NM_133379.5(TTN):c.11254T>A (p.Ser3752Thr) rs144209883 0.00102
NM_173477.5(USH1G):c.715A>C (p.Lys239Gln) rs147967199 0.00102
NM_206933.4(USH2A):c.7060C>T (p.Arg2354Cys) rs111033508 0.00102
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027 0.00101
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=) rs1800131 0.00101
NM_000540.3(RYR1):c.5036G>A (p.Arg1679His) rs146504767 0.00101
NM_000548.5(TSC2):c.275A>T (p.Glu92Val) rs137853994 0.00101
NM_000552.5(VWF):c.5191T>A (p.Ser1731Thr) rs61750603 0.00101
NM_001018116.2(CAVIN4):c.243T>G (p.Asn81Lys) rs149165620 0.00101
NM_001128840.3(CACNA1D):c.2805G>C (p.Leu935=) rs150266932 0.00101
NM_001267550.2(TTN):c.26818G>A (p.Gly8940Ser) rs201005813 0.00101
NM_001378609.3(OTOGL):c.1815G>T (p.Gln605His) rs192234924 0.00101
NM_017780.4(CHD7):c.1565G>T (p.Gly522Val) rs142962579 0.00101
NM_022124.6(CDH23):c.4287C>T (p.Pro1429=) rs377493327 0.00101
NM_022124.6(CDH23):c.8167G>C (p.Val2723Leu) rs142857685 0.00101
NM_032578.4(MYPN):c.1122G>A (p.Glu374=) rs145103325 0.00101
NM_033118.4(MYLK2):c.102A>G (p.Lys34=) rs28763880 0.00101
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624 0.00100
NM_000169.3(GLA):c.978G>A (p.Lys326=) rs151195362 0.00100
NM_001267550.2(TTN):c.1776T>C (p.Asp592=) rs147081804 0.00100
NM_001267550.2(TTN):c.79612A>G (p.Thr26538Ala) rs150682764 0.00100
NM_001384140.1(PCDH15):c.2990A>G (p.Glu997Gly) rs139087859 0.00100
NM_003803.4(MYOM1):c.1978C>G (p.Pro660Ala) rs201104206 0.00100
NM_004568.6(SERPINB6):c.1095C>T (p.Asn365=) rs145397970 0.00100
NM_017780.4(CHD7):c.6660T>G (p.Gly2220=) rs34527521 0.00100
NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile) rs143301610 0.00100
NM_001267550.2(TTN):c.100059T>A (p.Ile33353=) rs56026369 0.00099
NM_001267550.2(TTN):c.39296-13C>T rs372380420 0.00099
NM_004999.4(MYO6):c.3530G>A (p.Arg1177His) rs139664153 0.00099
NM_015404.4(WHRN):c.234G>A (p.Leu78=) rs148785227 0.00099
NM_015404.4(WHRN):c.75C>T (p.Gly25=) rs771128098 0.00099
NM_016239.4(MYO15A):c.709G>A (p.Asp237Asn) rs201737186 0.00099
NM_017950.4(CCDC40):c.850G>C (p.Asp284His) rs201042940 0.00099
NM_020433.5(JPH2):c.1971G>A (p.Glu657=) rs142333841 0.00099
NM_021167.5(GATAD1):c.96T>G (p.His32Gln) rs532003876 0.00099
NM_032578.4(MYPN):c.465C>G (p.Ala155=) rs142867001 0.00099
NM_144672.4(OTOA):c.1523T>C (p.Val508Ala) rs138141474 0.00099
NM_173477.5(USH1G):c.566G>A (p.Arg189Gln) rs201644674 0.00099
NM_000169.3(GLA):c.8T>C (p.Leu3Pro) rs150547672 0.00098
NM_000257.4(MYH7):c.4806C>T (p.Asp1602=) rs142034311 0.00098
NM_000260.4(MYO7A):c.803A>G (p.Lys268Arg) rs184866544 0.00098
NM_001145809.2(MYH14):c.1275C>T (p.Thr425=) rs149221129 0.00098
NM_001195263.2(PDZD7):c.2357G>A (p.Arg786Gln) rs113570783 0.00098
NM_001199799.2(ILDR1):c.225A>G (p.Ser75=) rs146402126 0.00098
NM_001267550.2(TTN):c.59835C>T (p.Asn19945=) rs72646842 0.00098
NM_001378609.3(OTOGL):c.4199+10G>A rs149452803 0.00098
NM_001378609.3(OTOGL):c.5617C>A (p.Pro1873Thr) rs141867785 0.00098
NM_004006.3(DMD):c.2261G>T (p.Gly754Val) rs151242451 0.00098
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr) rs4986854 0.00098
NM_015404.4(WHRN):c.1149C>T (p.Thr383=) rs149558159 0.00098
NM_194248.3(OTOF):c.2123G>A (p.Arg708Gln) rs145019640 0.00098
NM_001103.4(ACTN2):c.2076C>T (p.Ile692=) rs144122893 0.00097
NM_001267550.2(TTN):c.107397C>T (p.Ser35799=) rs371480338 0.00097
NM_001267550.2(TTN):c.25704G>A (p.Arg8568=) rs150544093 0.00097
NM_001267550.2(TTN):c.4671G>A (p.Met1557Ile) rs139192633 0.00097
NM_001267550.2(TTN):c.74891C>T (p.Pro24964Leu) rs72646899 0.00097
NM_003476.5(CSRP3):c.299G>A (p.Arg100His) rs138218523 0.00097
NM_017837.4(PIGV):c.349A>G (p.Ile117Val) rs142192097 0.00097
NM_170682.4(P2RX2):c.491A>G (p.Gln164Arg) rs142844880 0.00097
NM_206933.4(USH2A):c.3158-7A>G rs201558076 0.00097
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859 0.00096
NM_001038603.3(MARVELD2):c.900G>A (p.Leu300=) rs138680809 0.00096
NM_001267550.2(TTN):c.104251G>C (p.Ala34751Pro) rs185683410 0.00096
NM_001267550.2(TTN):c.107961T>C (p.His35987=) rs377439315 0.00096
NM_001267550.2(TTN):c.18325A>G (p.Lys6109Glu) rs73973139 0.00096
NM_001267550.2(TTN):c.7961G>A (p.Arg2654Lys) rs147207100 0.00096
NM_001267550.2(TTN):c.88721G>A (p.Arg29574His) rs111727915 0.00096
NM_001378609.3(OTOGL):c.6626C>T (p.Thr2209Ile) rs146572555 0.00096
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_006012.4(CLPP):c.399C>T (p.Tyr133=) rs140025832 0.00096
NM_006016.6(CD164):c.575G>A (p.Arg192Gln) rs62436104 0.00096
NM_007078.3(LDB3):c.1653C>T (p.Cys551=) rs45581435 0.00096
NM_017837.4(PIGV):c.348G>A (p.Leu116=) rs148662665 0.00096
NM_022124.6(CDH23):c.510C>T (p.Ser170=) rs143341423 0.00096
NM_032578.4(MYPN):c.1460-14T>A rs201156035 0.00096
NM_032578.4(MYPN):c.2880T>G (p.Ser960=) rs146028308 0.00096
NM_032578.4(MYPN):c.65C>G (p.Ala22Gly) rs145142157 0.00096
NM_194248.3(OTOF):c.3966C>G (p.Asp1322Glu) rs80356576 0.00096
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) rs145532615 0.00095
NM_001039876.3(SYNE4):c.7C>T (p.Leu3=) rs373148223 0.00095
NM_001128840.3(CACNA1D):c.5496C>T (p.Gly1832=) rs149746093 0.00095
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp) rs140319117 0.00095
NM_001374385.1(ATP8B1):c.607A>G (p.Lys203Glu) rs56355310 0.00095
NM_002471.4(MYH6):c.3303G>A (p.Val1101=) rs143825034 0.00095
NM_007078.3(LDB3):c.993G>A (p.Ala331=) rs140347820 0.00095
NM_017433.5(MYO3A):c.585+4A>T rs202189844 0.00095
NM_022124.6(CDH23):c.7660+13C>T rs374011250 0.00095
NM_022124.6(CDH23):c.8980-12C>T rs111583276 0.00095
NM_182548.4(LHFPL5):c.43C>T (p.His15Tyr) rs149941106 0.00095
NM_001031679.3(MSRB3):c.114T>C (p.Phe38=) rs114599476 0.00094
NM_001103.4(ACTN2):c.1864G>A (p.Asp622Asn) rs138452803 0.00094
NM_001267550.2(TTN):c.29079G>A (p.Ala9693=) rs372997298 0.00094
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr) rs72677243 0.00094
NM_001267550.2(TTN):c.80322C>T (p.Ala26774=) rs55892928 0.00094
NM_001354604.2(MITF):c.1280T>C (p.Val427Ala) rs2055006 0.00094
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998 0.00094
NM_006005.3(WFS1):c.1321G>A (p.Val441Met) rs150894674 0.00094
NM_030665.4(RAI1):c.840_843del (p.Gln280fs) rs775735568 0.00094
NM_133261.3(GIPC3):c.906C>T (p.Ala302=) rs140960269 0.00094
NM_000090.4(COL3A1):c.1051-13G>A rs371934572 0.00093
NM_001105206.3(LAMA4):c.1475T>A (p.Leu492His) rs3752579 0.00093
NM_001145809.2(MYH14):c.2432C>T (p.Ala811Val) rs201337011 0.00093
NM_001267550.2(TTN):c.33053G>A (p.Arg11018Gln) rs72650034 0.00093
NM_001267550.2(TTN):c.45499G>A (p.Val15167Ile) rs183245562 0.00093
NM_001267550.2(TTN):c.65776G>A (p.Val21926Met) rs145527033 0.00093
NM_001267550.2(TTN):c.80661C>T (p.Asn26887=) rs201069672 0.00093
NM_001267550.2(TTN):c.88485C>T (p.Leu29495=) rs371612136 0.00093
NM_001318895.3(FHL2):c.85G>A (p.Val29Met) rs56284940 0.00093
NM_001927.4(DES):c.935A>C (p.Asp312Ala) rs148947510 0.00093
NM_004999.4(MYO6):c.92T>C (p.Ile31Thr) rs148735953 0.00093
NM_144991.3(TSPEAR):c.169C>T (p.Arg57Trp) rs140542643 0.00093
NM_194248.3(OTOF):c.1530C>T (p.Ile510=) rs150452778 0.00093
NM_194248.3(OTOF):c.1630C>T (p.Arg544Cys) rs139954767 0.00093
NM_194248.3(OTOF):c.3384C>T (p.Pro1128=) rs145151677 0.00093
NM_001267550.2(TTN):c.11672C>T (p.Thr3891Ile) rs148164929 0.00092
NM_001267550.2(TTN):c.16529A>G (p.Tyr5510Cys) rs72648939 0.00092
NM_001267550.2(TTN):c.95582A>G (p.Tyr31861Cys) rs59148238 0.00092
NM_002471.4(MYH6):c.1083G>T (p.Gly361=) rs138928022 0.00092
NM_014391.3(ANKRD1):c.197G>A (p.Arg66Gln) rs150797476 0.00092
NM_022124.6(CDH23):c.4488+7C>T rs374215303 0.00092
NM_032119.4(ADGRV1):c.8172C>T (p.Phe2724=) rs371019516 0.00092
NM_152594.3(SPRED1):c.675C>T (p.Ser225=) rs144764225 0.00092
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152 0.00092
NM_000257.4(MYH7):c.930T>C (p.Tyr310=) rs111626355 0.00091
NM_001039141.3(TRIOBP):c.363C>A (p.Ser121=) rs201843208 0.00091
NM_001267550.2(TTN):c.107766T>C (p.Gly35922=) rs147293964 0.00091
NM_001267550.2(TTN):c.58419A>G (p.Gln19473=) rs186563991 0.00091
NM_001267550.2(TTN):c.60821C>T (p.Pro20274Leu) rs72646845 0.00091
NM_001267550.2(TTN):c.72379G>A (p.Glu24127Lys) rs149763294 0.00091
NM_001292063.2(OTOG):c.7693+1G>A rs548496846 0.00091
NM_001378609.3(OTOGL):c.4280-5T>C rs200889330 0.00091
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys) rs142885240 0.00091
NM_014000.3(VCL):c.660C>T (p.Asn220=) rs56264452 0.00091
NM_022124.6(CDH23):c.2830A>G (p.Ser944Gly) rs188098974 0.00091
NM_194248.3(OTOF):c.5394C>T (p.Asp1798=) rs111033366 0.00091
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys) rs74571530 0.00090
NM_001267550.2(TTN):c.105228G>A (p.Ser35076=) rs55938627 0.00090
NM_001267550.2(TTN):c.25351+13C>G rs138362885 0.00090
NM_001267550.2(TTN):c.96098G>A (p.Arg32033His) rs200648462 0.00090
NM_002230.4(JUP):c.567C>T (p.Val189=) rs35297577 0.00090
NM_002471.4(MYH6):c.3297G>A (p.Glu1099=) rs144957142 0.00090
NM_006005.3(WFS1):c.683G>A (p.Arg228His) rs150771247 0.00090
NM_144991.3(TSPEAR):c.714G>A (p.Ala238=) rs146025689 0.00090
NM_000335.5(SCN5A):c.856G>T (p.Ala286Ser) rs61746118 0.00089
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=) rs138186428 0.00089
NM_001243133.2(NLRP3):c.789C>T (p.Ser263=) rs146442638 0.00089
NM_001267550.2(TTN):c.15906C>T (p.Val5302=) rs375179152 0.00089
NM_001267550.2(TTN):c.4396T>C (p.Phe1466Leu) rs151310601 0.00089
NM_016239.4(MYO15A):c.9181G>A (p.Glu3061Lys) rs116833707 0.00089
NM_080680.3(COL11A2):c.4040C>A (p.Pro1347Gln) rs142890313 0.00089
NM_001267550.2(TTN):c.18531G>C (p.Val6177=) rs370684491 0.00088
NM_001267550.2(TTN):c.31807G>A (p.Val10603Ile) rs139790668 0.00088
NM_001267550.2(TTN):c.32462C>T (p.Pro10821Leu) rs146400809 0.00088
NM_001267550.2(TTN):c.41010T>C (p.Asp13670=) rs193191368 0.00088
NM_001267550.2(TTN):c.83299C>A (p.Pro27767Thr) rs184643087 0.00088
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser) rs150516929 0.00088
NM_001378609.3(OTOGL):c.2357T>C (p.Phe786Ser) rs192944055 0.00088
NM_001379180.1(ESRRB):c.*1546C>T rs201448899 0.00088
NM_002471.4(MYH6):c.3978+8C>T rs367866050 0.00088
NM_002473.6(MYH9):c.4727G>A (p.Arg1576Gln) rs143269195 0.00088
NM_002473.6(MYH9):c.5010G>A (p.Glu1670=) rs76069100 0.00088
NM_002473.6(MYH9):c.615C>T (p.Gly205=) rs139466141 0.00088
NM_002880.4(RAF1):c.1830A>G (p.Gln610=) rs141791080 0.00088
NM_004999.4(MYO6):c.2175A>G (p.Lys725=) rs116571790 0.00088
NM_007078.3(LDB3):c.295C>T (p.Pro99Ser) rs201693259 0.00088
NM_032119.4(ADGRV1):c.8572A>G (p.Ile2858Val) rs41308297 0.00088
NM_033337.3(CAV3):c.40G>A (p.Val14Ile) rs121909281 0.00088
NM_053025.4(MYLK):c.3832-6C>T rs185681684 0.00088
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn) rs41294980 0.00087
NM_000260.4(MYO7A):c.4620G>A (p.Ala1540=) rs41298745 0.00087
NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser) rs141213991 0.00087
NM_001267550.2(TTN):c.95205C>T (p.Asp31735=) rs373182578 0.00087
NM_001292063.2(OTOG):c.4835G>A (p.Arg1612His) rs189248390 0.00087
NM_001352514.2(HLCS):c.865G>A (p.Val289Ile) rs149291867 0.00087
NM_001378373.1(MBL2):c.132C>T (p.Asn44=) rs34120190 0.00087
NM_004415.4(DSP):c.7734C>T (p.Ser2578=) rs28763970 0.00087
NM_014588.6(VSX1):c.173C>T (p.Pro58Leu) rs369865672 0.00087
NM_016239.4(MYO15A):c.2418C>T (p.Phe806=) rs564053026 0.00087
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys) rs150726175 0.00087
NM_023036.6(DNAI2):c.754G>A (p.Val252Met) rs140326154 0.00087
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser) rs193922380 0.00086
NM_000548.5(TSC2):c.2784C>T (p.Pro928=) rs45517267 0.00086
NM_001039213.4(CEACAM16):c.519C>T (p.Val173=) rs114645388 0.00086
NM_001079866.2(BCS1L):c.1000G>A (p.Val334Ile) rs146731467 0.00086
NM_001110219.3(GJB6):c.607A>G (p.Met203Val) rs200674715 0.00086
NM_001145809.2(MYH14):c.1992G>A (p.Pro664=) rs192745436 0.00086
NM_001267550.2(TTN):c.12748G>A (p.Val4250Met) rs201437752 0.00086
NM_001267550.2(TTN):c.44784T>C (p.Asp14928=) rs186105748 0.00086
NM_001267550.2(TTN):c.70250T>C (p.Ile23417Thr) rs201836227 0.00086
NM_001267550.2(TTN):c.95244C>T (p.Arg31748=) rs368243641 0.00086
NM_002473.6(MYH9):c.5049C>A (p.Ile1683=) rs147419066 0.00086
NM_014000.3(VCL):c.1572C>T (p.Ala524=) rs138566234 0.00086
NM_016203.4(PRKAG2):c.1584+7C>T rs111627309 0.00086
NM_032119.4(ADGRV1):c.16285G>A (p.Glu5429Lys) rs183851734 0.00086
NM_032119.4(ADGRV1):c.3509A>G (p.Tyr1170Cys) rs188772875 0.00086
NM_032119.4(ADGRV1):c.5221T>C (p.Leu1741=) rs371831553 0.00086
NM_178335.3(CCDC50):c.617C>T (p.Ser206Phe) rs138153104 0.00086
NM_000540.3(RYR1):c.8327C>T (p.Ser2776Phe) rs147707463 0.00085
NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly) rs72544141 0.00085
NM_001384140.1(PCDH15):c.949T>A (p.Ser317Thr) rs140736502 0.00085
NM_004281.4(BAG3):c.280A>T (p.Ile94Phe) rs145393807 0.00085
NM_032119.4(ADGRV1):c.9083A>G (p.Asn3028Ser) rs150549897 0.00085
NM_178452.6(DNAAF1):c.1354C>A (p.Pro452Thr) rs145680314 0.00085
NM_206933.4(USH2A):c.8559-7G>A rs199618999 0.00085
NM_001035.3(RYR2):c.231G>A (p.Ala77=) rs376225470 0.00084
NM_001145809.2(MYH14):c.5991G>A (p.Thr1997=) rs181567755 0.00084
NM_001267550.2(TTN):c.102751A>G (p.Met34251Val) rs56173891 0.00084
NM_001330691.3(CEP78):c.1194A>G (p.Ala398=) rs138501486 0.00084
NM_005633.4(SOS1):c.2238T>C (p.Asn746=) rs75877625 0.00084
NM_015404.4(WHRN):c.1992G>A (p.Pro664=) rs142568702 0.00084
NM_017433.5(MYO3A):c.2214T>C (p.Asn738=) rs34803755 0.00084
NM_022114.4(PRDM16):c.429C>T (p.Cys143=) rs150097149 0.00084
NM_206933.4(USH2A):c.5048A>G (p.Asn1683Ser) rs140080678 0.00084
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783 0.00083
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243 0.00083
NM_000548.5(TSC2):c.856A>G (p.Met286Val) rs1800748 0.00083
NM_001267550.2(TTN):c.25223C>T (p.Thr8408Ile) rs201432372 0.00083
NM_001267550.2(TTN):c.26494A>G (p.Ile8832Val) rs72648989 0.00083
NM_001267550.2(TTN):c.31757C>A (p.Pro10586Gln) rs200459347 0.00083
NM_001267550.2(TTN):c.44077C>T (p.Arg14693Cys) rs200445568 0.00083
NM_001267550.2(TTN):c.59318A>G (p.Glu19773Gly) rs371719028 0.00083
NM_001384474.1(LOXHD1):c.3941C>T (p.Thr1314Ile) rs182125538 0.00083
NM_001927.4(DES):c.785A>T (p.Glu262Val) rs147327878 0.00083
NM_002473.6(MYH9):c.1242C>T (p.Ile414=) rs138436678 0.00083
NM_004086.3(COCH):c.1348A>G (p.Ile450Val) rs139503327 0.00083
NM_004415.4(DSP):c.741G>A (p.Ala247=) rs2806234 0.00083
NM_015404.4(WHRN):c.1135C>T (p.Arg379Trp) rs56059137 0.00083
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn) rs61978638 0.00083
NM_032119.4(ADGRV1):c.1855T>G (p.Leu619Val) rs202064612 0.00083
NM_032119.4(ADGRV1):c.18803-13A>G rs41305902 0.00083
NM_032119.4(ADGRV1):c.9447+6G>A rs201481219 0.00083
NM_032578.4(MYPN):c.3583G>A (p.Val1195Met) rs71534280 0.00083
NM_080680.3(COL11A2):c.5160C>G (p.Ala1720=) rs139647701 0.00083
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg) rs28897706 0.00082
NM_000257.4(MYH7):c.1395C>T (p.Phe465=) rs45508293 0.00082
NM_001039.4(SCNN1G):c.1575G>A (p.Glu525=) rs72647541 0.00082
NM_001267550.2(TTN):c.23302G>A (p.Asp7768Asn) rs72648973 0.00082
NM_001267550.2(TTN):c.29128G>A (p.Val9710Ile) rs72649002 0.00082
NM_001267550.2(TTN):c.89426G>A (p.Arg29809Gln) rs72648238 0.00082
NM_004700.4(KCNQ4):c.465A>C (p.Gly155=) rs145129529 0.00082
NM_005633.4(SOS1):c.73C>T (p.Pro25Ser) rs139592595 0.00082
NM_080680.3(COL11A2):c.4015-8T>C rs377001136 0.00082
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys) rs150792276 0.00081
NM_001130987.2(DYSF):c.3756+9G>T rs191746041 0.00081
NM_001267550.2(TTN):c.13976A>G (p.Tyr4659Cys) rs34706803 0.00081
NM_001267550.2(TTN):c.20236G>A (p.Ala6746Thr) rs202108224 0.00081
NM_001267550.2(TTN):c.28970C>T (p.Ser9657Leu) rs200049911 0.00081
NM_001267550.2(TTN):c.91347T>C (p.Asp30449=) rs193022702 0.00081
NM_001292063.2(OTOG):c.385G>A (p.Val129Met) rs552304627 0.00081
NM_001384140.1(PCDH15):c.1205G>C (p.Gly402Ala) rs145017164 0.00081
NM_002473.6(MYH9):c.*8C>T rs201455315 0.00081
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
NM_004447.6(EPS8):c.1330T>C (p.Phe444Leu) rs139258361 0.00081
NM_004568.6(SERPINB6):c.100A>G (p.Met34Val) rs145538358 0.00081
NM_005548.3(KARS1):c.612A>G (p.Thr204=) rs141539149 0.00081
NM_007214.5(SEC63):c.340-7T>C rs1569557 0.00081
NM_032578.4(MYPN):c.1293C>A (p.Ile431=) rs147184158 0.00081
NM_153700.2(STRC):c.4157T>C (p.Val1386Ala) rs377674360 0.00081
NM_194248.3(OTOF):c.2908C>T (p.Arg970Cys) rs140613217 0.00081
NM_194248.3(OTOF):c.4463A>T (p.Asp1488Val) rs142284613 0.00081
NM_206933.4(USH2A):c.14754G>A (p.Thr4918=) rs150286388 0.00081
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly) rs41302239 0.00081
NM_001267550.2(TTN):c.32807-10T>A rs138192315 0.00080
NM_001378454.1(ALMS1):c.4344A>G (p.Leu1448=) rs200459890 0.00080
NM_001692.4(ATP6V1B1):c.264G>A (p.Ala88=) rs147576439 0.00080
NM_004517.4(ILK):c.65A>G (p.Asn22Ser) rs114115159 0.00080
NM_007078.3(LDB3):c.1535A>C (p.Gln512Pro) rs138951890 0.00080
NM_022124.6(CDH23):c.1301A>G (p.Asn434Ser) rs139287714 0.00080
NM_153676.4(USH1C):c.2184+10T>C rs200889109 0.00080
NM_173477.5(USH1G):c.1258C>G (p.Leu420Val) rs139897506 0.00080
NM_173477.5(USH1G):c.705G>A (p.Glu235=) rs149002004 0.00080
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val) rs35818432 0.00080
NM_000321.3(RB1):c.920C>T (p.Thr307Ile) rs183898408 0.00079
NM_001018005.2(TPM1):c.115-262C>T rs74573041 0.00079
NM_001042492.3(NF1):c.3270A>C (p.Gly1090=) rs150015024 0.00079
NM_001267550.2(TTN):c.1537-4G>A rs56006378 0.00079
NM_001267550.2(TTN):c.20025C>A (p.Ala6675=) rs373842558 0.00079
NM_001267550.2(TTN):c.45174C>T (p.Gly15058=) rs372609980 0.00079
NM_001267550.2(TTN):c.65459C>T (p.Thr21820Ile) rs56130023 0.00079
NM_001267550.2(TTN):c.88476C>G (p.Thr29492=) rs190406444 0.00079
NM_001378609.3(OTOGL):c.3675G>C (p.Gln1225His) rs139375212 0.00079
NM_016239.4(MYO15A):c.1454T>C (p.Val485Ala) rs200532919 0.00079
NM_024422.6(DSC2):c.2636A>G (p.Asp879Gly) rs143342988 0.00079
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met) rs112084407 0.00078
NM_000257.4(MYH7):c.261C>T (p.Ile87=) rs148560996 0.00078
NM_001105206.3(LAMA4):c.2403G>A (p.Thr801=) rs142559688 0.00078
NM_001105206.3(LAMA4):c.4678C>A (p.Arg1560=) rs150069819 0.00078
NM_001134363.3(RBM20):c.1179C>T (p.Pro393=) rs200588338 0.00078
NM_001267550.2(TTN):c.102103G>A (p.Asp34035Asn) rs144963736 0.00078
NM_001267550.2(TTN):c.54812-5A>G rs375343798 0.00078
NM_001267550.2(TTN):c.98683+7G>C rs141150066 0.00078
NM_001277115.2(DNAH11):c.12969G>C (p.Gln4323His) rs191802172 0.00078
NM_002473.6(MYH9):c.1843+14C>A rs372865551 0.00078
NM_017433.5(MYO3A):c.3538G>A (p.Glu1180Lys) rs184043065 0.00078
NM_017780.4(CHD7):c.7165-5A>G rs376076407 0.00078
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) rs181255269 0.00078
NM_032119.4(ADGRV1):c.10563T>C (p.Leu3521=) rs200946170 0.00078
NM_170707.4(LMNA):c.1804G>A (p.Gly602Ser) rs60662302 0.00078
NM_172364.5(CACNA2D4):c.1882C>T (p.Arg628Ter) rs200098356 0.00078
NM_201596.3(CACNB2):c.641G>C (p.Ser214Thr) rs149253719 0.00078
NM_000117.3(EMD):c.396C>T (p.His132=) rs145985318 0.00077
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp) rs63750447 0.00077
NM_000258.3(MYL3):c.559+6C>T rs199474709 0.00077
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00077
NM_000548.5(TSC2):c.255C>T (p.Val85=) rs45517098 0.00077
NM_001089.3(ABCA3):c.634C>A (p.Leu212Met) rs139695699 0.00077
NM_001267550.2(TTN):c.10088G>A (p.Arg3363His) rs148169214 0.00077
NM_001371333.1(DIABLO):c.546C>T (p.Thr182=) rs149387774 0.00077
NM_001378454.1(ALMS1):c.2354A>G (p.Glu785Gly) rs17848880 0.00077
NM_001927.4(DES):c.170C>T (p.Ser57Leu) rs372825868 0.00077
NM_030777.4(SLC2A10):c.816C>G (p.Ala272=) rs148058006 0.00077
NM_080680.3(COL11A2):c.4652G>A (p.Arg1551Gln) rs145343609 0.00077
NM_144573.4(NEXN):c.777A>G (p.Gln259=) rs375544798 0.00077
NM_206933.4(USH2A):c.14664G>A (p.Thr4888=) rs111033525 0.00077
NM_000091.5(COL4A3):c.3627G>A (p.Met1209Ile) rs200562865 0.00076
NM_000138.5(FBN1):c.510C>T (p.Tyr170=) rs111671429 0.00076
NM_000236.3(LIPC):c.866C>T (p.Ser289Phe) rs121912502 0.00076
NM_000256.3(MYBPC3):c.3392T>C (p.Ile1131Thr) rs370890951 0.00076
NM_000256.3(MYBPC3):c.649A>G (p.Ser217Gly) rs138753870 0.00076
NM_000335.5(SCN5A):c.2437-13C>T rs45455099 0.00076
NM_000432.4(MYL2):c.36C>T (p.Gly12=) rs139794370 0.00076
NM_001048174.2(MUTYH):c.1424G>A (p.Gly475Glu) rs3219494 0.00076
NM_001232.4(CASQ2):c.481A>G (p.Ile161Val) rs146333579 0.00076
NM_001232.4(CASQ2):c.730C>T (p.His244Tyr) rs142036299 0.00076
NM_001267550.2(TTN):c.15860C>T (p.Thr5287Met) rs148551876 0.00076
NM_001267550.2(TTN):c.27702T>C (p.Ile9234=) rs143368674 0.00076
NM_001267550.2(TTN):c.58226G>A (p.Arg19409His) rs201505306 0.00076
NM_001267550.2(TTN):c.63942G>A (p.Ser21314=) rs201285872 0.00076
NM_001292063.2(OTOG):c.4012C>T (p.Arg1338Trp) rs61734125 0.00076
NM_001378454.1(ALMS1):c.8919G>A (p.Ala2973=) rs116854981 0.00076
NM_001999.4(FBN2):c.4647C>T (p.Asn1549=) rs146662880 0.00076
NM_002473.6(MYH9):c.3192C>T (p.Ile1064=) rs144807538 0.00076
NM_005188.4(CBL):c.2269G>A (p.Ala757Thr) rs146517083 0.00076
NM_006005.3(WFS1):c.1152C>T (p.Phe384=) rs149846741 0.00076
NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser) rs146132083 0.00076
NM_016239.4(MYO15A):c.269T>C (p.Met90Thr) rs373294263 0.00076
NM_024915.4(GRHL2):c.804C>T (p.Thr268=) rs55682875 0.00076
NM_030662.4(MAP2K2):c.498C>T (p.Pro166=) rs139404261 0.00076
NM_032119.4(ADGRV1):c.1033C>A (p.Gln345Lys) rs201236317 0.00076
NM_194248.3(OTOF):c.1910T>C (p.Ile637Thr) rs111033351 0.00076
NM_206933.4(USH2A):c.6347A>G (p.His2116Arg) rs111033450 0.00076
NM_000117.3(EMD):c.495G>A (p.Thr165=) rs151074632 0.00075
NM_001039213.4(CEACAM16):c.999C>T (p.Asp333=) rs200767877 0.00075
NM_001105206.3(LAMA4):c.297+8G>A rs200595773 0.00075
NM_001145809.2(MYH14):c.4617T>G (p.Arg1539=) rs375866139 0.00075
NM_001267550.2(TTN):c.21555C>A (p.Ile7185=) rs201155967 0.00075
NM_001267550.2(TTN):c.65775C>T (p.Ser21925=) rs72646867 0.00075
NM_001267550.2(TTN):c.95242C>T (p.Arg31748Cys) rs142525903 0.00075
NM_005548.3(KARS1):c.717T>G (p.Phe239Leu) rs117188693 0.00075
NM_014000.3(VCL):c.1348A>C (p.Arg450=) rs142128712 0.00075
NM_017780.4(CHD7):c.7313A>C (p.Gln2438Pro) rs754894988 0.00075
NM_206933.4(USH2A):c.12046G>A (p.Val4016Met) rs138803855 0.00075
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475 0.00074
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708 0.00074
NM_000441.2(SLC26A4):c.1616T>C (p.Ile539Thr) rs146269871 0.00074
NM_001105206.3(LAMA4):c.1959T>C (p.Asp653=) rs143269044 0.00074
NM_001267550.2(TTN):c.53055G>A (p.Met17685Ile) rs200387466 0.00074
NM_001267550.2(TTN):c.54903C>G (p.Gly18301=) rs190830121 0.00074
NM_001267550.2(TTN):c.55929A>G (p.Gln18643=) rs151335428 0.00074
NM_001384474.1(LOXHD1):c.6599G>A (p.Arg2200Gln) rs148468627 0.00074
NM_002230.4(JUP):c.2059A>G (p.Ile687Val) rs138366708 0.00074
NM_003280.3(TNNC1):c.201C>T (p.Asp67=) rs150881554 0.00074
NM_005188.4(CBL):c.1641T>C (p.Pro547=) rs61755280 0.00074
NM_013296.5(GPSM2):c.1486T>A (p.Leu496Ile) rs61758992 0.00074
NM_014908.4(DOLK):c.671A>T (p.Asp224Val) rs17485436 0.00074
NM_032119.4(ADGRV1):c.12212G>A (p.Arg4071Gln) rs202190568 0.00074
NM_133379.5(TTN):c.13859A>C (p.Gln4620Pro) rs139172299 0.00074
NM_153676.4(USH1C):c.1632C>T (p.Asp544=) rs142545736 0.00074
NM_000016.6(ACADM):c.199T>C (p.Tyr67His) rs121434280 0.00073
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His) rs200641606 0.00073
NM_000501.4(ELN):c.212C>T (p.Ala71Val) rs41350445 0.00073
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) rs45517238 0.00073
NM_001005242.3(PKP2):c.1171-10T>C rs200122872 0.00073
NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr) rs72648227 0.00073
NM_001370259.2(MEN1):c.-22C>A rs374749001 0.00073
NM_001379180.1(ESRRB):c.414G>A (p.Val138=) rs141586518 0.00073
NM_001384140.1(PCDH15):c.1653G>A (p.Gly551=) rs141281651 0.00073
NM_001384140.1(PCDH15):c.243G>A (p.Val81=) rs151119732 0.00073
NM_002880.4(RAF1):c.-201C>A rs532668125 0.00073
NM_004415.4(DSP):c.4065T>C (p.Tyr1355=) rs148478829 0.00073
NM_005422.4(TECTA):c.2604G>T (p.Thr868=) rs139509847 0.00073
NM_006231.4(POLE):c.3718G>A (p.Glu1240Lys) rs113594027 0.00073
NM_016239.4(MYO15A):c.10393C>T (p.Arg3465Trp) rs201028204 0.00073
NM_194248.3(OTOF):c.2076G>T (p.Arg692=) rs138769870 0.00073
NM_206933.4(USH2A):c.2001C>T (p.His667=) rs142870255 0.00073
NM_000260.4(MYO7A):c.5904C>T (p.His1968=) rs41298753 0.00072
NM_001035.3(RYR2):c.7619A>G (p.His2540Arg) rs200105499 0.00072
NM_001267550.2(TTN):c.82081C>G (p.Pro27361Ala) rs56137800 0.00072
NM_001292063.2(OTOG):c.3006+11G>A rs150247729 0.00072
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00072
NM_001378609.3(OTOGL):c.2551G>A (p.Asp851Asn) rs112430701 0.00072
NM_030662.4(MAP2K2):c.603C>T (p.Leu201=) rs148291450 0.00072
NM_201384.3(PLEC):c.1158C>G (p.Ser386Arg) rs201667254 0.00072
NM_000038.6(APC):c.1604C>T (p.Ser535Phe) rs75870842 0.00071
NM_000256.3(MYBPC3):c.2997C>T (p.Gly999=) rs377283955 0.00071
NM_000257.4(MYH7):c.2553C>A (p.Ser851=) rs144291282 0.00071
NM_000335.5(SCN5A):c.3266C>T (p.Pro1089Leu) rs1805125 0.00071
NM_001035.3(RYR2):c.1134C>T (p.Asp378=) rs193922621 0.00071
NM_001035.3(RYR2):c.14484G>T (p.Gly4828=) rs370996795 0.00071
NM_001035.3(RYR2):c.3030T>C (p.Asp1010=) rs138064129 0.00071
NM_001039876.3(SYNE4):c.317A>C (p.Gln106Pro) rs200994810 0.00071
NM_001145809.2(MYH14):c.394G>A (p.Gly132Ser) rs199910006 0.00071
NM_001256317.3(TMPRSS3):c.1042G>A (p.Asp348Asn) rs111033261 0.00071
NM_001267550.2(TTN):c.106578T>A (p.Ser35526=) rs55838839 0.00071
NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val) rs55725279 0.00071
NM_001267550.2(TTN):c.19063G>T (p.Asp6355Tyr) rs188878341 0.00071
NM_001267550.2(TTN):c.44529C>T (p.His14843=) rs55973744 0.00071
NM_001384474.1(LOXHD1):c.1815C>T (p.Asp605=) rs201388780 0.00071
NM_003235.5(TG):c.229G>A (p.Gly77Ser) rs142698837 0.00071
NM_004006.3(DMD):c.4093C>T (p.Leu1365Phe) rs148781346 0.00071
NM_004006.3(DMD):c.5476G>C (p.Glu1826Gln) rs140913030 0.00071
NM_133379.5(TTN):c.11075G>C (p.Ser3692Thr) rs147314430 0.00071
NM_133379.5(TTN):c.16613G>A (p.Arg5538His) rs145932311 0.00071
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn) rs146824138 0.00071
NM_000335.5(SCN5A):c.5793G>A (p.Ala1931=) rs200594132 0.00070
NM_000551.4(VHL):c.150C>G (p.Ala50=) rs61751580 0.00070
NM_001005242.3(PKP2):c.1379-2067G>A rs138538072 0.00070
NM_001103.4(ACTN2):c.26A>G (p.Gln9Arg) rs121434525 0.00070
NM_001128228.3(TPRN):c.2023G>A (p.Ala675Thr) rs139520402 0.00070
NM_001267550.2(TTN):c.47077G>A (p.Val15693Ile) rs201717871 0.00070
NM_001267550.2(TTN):c.95653G>A (p.Ala31885Thr) rs72648263 0.00070
NM_001292063.2(OTOG):c.3229A>G (p.Ile1077Val) rs56359117 0.00070
NM_001692.4(ATP6V1B1):c.688-7T>C rs193240706 0.00070
NM_002906.4(RDX):c.1468G>A (p.Asp490Asn) rs34471100 0.00070
NM_006383.4(CIB2):c.523A>C (p.Lys175Gln) rs200546031 0.00070
NM_024422.6(DSC2):c.304G>A (p.Glu102Lys) rs144799937 0.00070
NM_030662.4(MAP2K2):c.823C>T (p.Leu275=) rs145934142 0.00070
NM_030662.4(MAP2K2):c.844C>T (p.Pro282Ser) rs142307980 0.00070
NM_033118.4(MYLK2):c.173C>A (p.Ala58Asp) rs138130914 0.00070
NM_152594.3(SPRED1):c.939G>A (p.Thr313=) rs140644874 0.00070
NM_153676.4(USH1C):c.1740T>C (p.Pro580=) rs200085788 0.00070
NM_176869.3(PPA2):c.514G>A (p.Glu172Lys) rs146013446 0.00070
NM_000260.4(MYO7A):c.3474C>T (p.Ile1158=) rs201834743 0.00069
NM_000363.5(TNNI3):c.25-4C>T rs202086705 0.00069
NM_000441.2(SLC26A4):c.1614C>T (p.Asn538=) rs111033193 0.00069
NM_000503.6(EYA1):c.1460C>T (p.Ser487Leu) rs139717960 0.00069
NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr) rs201500134 0.00069
NM_001267550.2(TTN):c.79226G>A (p.Arg26409His) rs72648206 0.00069
NM_001267550.2(TTN):c.93900C>T (p.Ser31300=) rs200173934 0.00069
NM_001277115.2(DNAH11):c.2166A>G (p.Pro722=) rs191266255 0.00069
NM_001384474.1(LOXHD1):c.5853G>A (p.Lys1951=) rs201366522 0.00069
NM_004999.4(MYO6):c.3529C>T (p.Arg1177Cys) rs146419641 0.00069
NM_022124.6(CDH23):c.5541C>T (p.Asn1847=) rs148632119 0.00069
NM_022124.6(CDH23):c.6429G>A (p.Thr2143=) rs142788731 0.00069
NM_024334.3(TMEM43):c.424G>A (p.Glu142Lys) rs145619906 0.00069
NM_000335.5(SCN5A):c.659C>T (p.Thr220Ile) rs45620037 0.00068
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr) rs137854154 0.00068
NM_001103.4(ACTN2):c.1298C>T (p.Ser433Leu) rs143749154 0.00068
NM_001103.4(ACTN2):c.877-6G>A rs397516585 0.00068
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His) rs200324356 0.00068
NM_001267550.2(TTN):c.106920G>A (p.Leu35640=) rs183923129 0.00068
NM_001289808.2(CRYAB):c.152C>T (p.Pro51Leu) rs2234704 0.00068
NM_001363118.2(SLC52A2):c.1039G>A (p.Val347Met) rs145502954 0.00068
NM_004333.6(BRAF):c.1332G>A (p.Arg444=) rs56101602 0.00068
NM_006005.3(WFS1):c.2233G>A (p.Gly745Ser) rs139185707 0.00068
NM_006231.4(POLE):c.3851G>A (p.Arg1284Gln) rs149462407 0.00068
NM_016366.3(CABP2):c.590T>C (p.Ile197Thr) rs145369252 0.00068
NM_022124.6(CDH23):c.5410C>T (p.Arg1804Trp) rs376271562 0.00068
NM_080680.3(COL11A2):c.2682G>A (p.Pro894=) rs113067047 0.00068
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter) rs146451547 0.00068
NM_173477.5(USH1G):c.1012G>A (p.Gly338Arg) rs151242039 0.00068
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529 0.00067
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005 0.00067
NM_001080476.3(GRXCR1):c.785G>A (p.Arg262Gln) rs146696590 0.00067
NM_001105206.3(LAMA4):c.2171G>A (p.Arg724Lys) rs146868519 0.00067
NM_001127217.3(SMAD9):c.1035G>A (p.Val345=) rs150237947 0.00067
NM_001292063.2(OTOG):c.4627G>A (p.Ala1543Thr) rs545740473 0.00067
NM_001363118.2(SLC52A2):c.1122C>T (p.Leu374=) rs144290224 0.00067
NM_004100.5(EYA4):c.866C>T (p.Thr289Met) rs41286200 0.00067
NM_004415.4(DSP):c.782C>T (p.Ala261Val) rs139509870 0.00067
NM_015404.4(WHRN):c.2027C>G (p.Pro676Arg) rs139279977 0.00067
NM_032119.4(ADGRV1):c.5282C>G (p.Ser1761Cys) rs200392821 0.00067
NM_144672.4(OTOA):c.236G>A (p.Arg79Gln) rs147088274 0.00067
NM_144991.3(TSPEAR):c.364C>T (p.Arg122Trp) rs146257403 0.00067
NM_206933.4(USH2A):c.13361T>A (p.Val4454Asp) rs148033154 0.00067
NM_001039876.3(SYNE4):c.699G>A (p.Trp233Ter) rs200484521 0.00066
NM_001042492.3(NF1):c.7595C>T (p.Ala2532Val) rs148154172 0.00066
NM_001103.4(ACTN2):c.2649G>A (p.Ala883=) rs146426213 0.00066
NM_001134363.3(RBM20):c.680G>T (p.Gly227Val) rs202238753 0.00066
NM_001256317.3(TMPRSS3):c.1332C>T (p.His444=) rs186972955 0.00066
NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe) rs201944202 0.00066
NM_001267550.2(TTN):c.89386G>A (p.Val29796Met) rs72648237 0.00066
NM_001378454.1(ALMS1):c.10892G>A (p.Arg3631His) rs142558799 0.00066
NM_001379180.1(ESRRB):c.*1517C>T rs201726554 0.00066
NM_002294.3(LAMP2):c.339C>T (p.Ser113=) rs147369153 0.00066
NM_002471.4(MYH6):c.4986G>A (p.Ala1662=) rs77416370 0.00066
NM_002473.6(MYH9):c.2872G>A (p.Ala958Thr) rs151036570 0.00066
NM_002473.6(MYH9):c.5877C>T (p.Ala1959=) rs144179406 0.00066
NM_002473.6(MYH9):c.591G>A (p.Ser197=) rs140241271 0.00066
NM_004004.6(GJB2):c.503A>G (p.Lys168Arg) rs200104362 0.00066
NM_005633.4(SOS1):c.3391+7A>G rs201982464 0.00066
NM_015559.3(SETBP1):c.4554G>A (p.Glu1518=) rs574196735 0.00066
NM_024422.6(DSC2):c.172T>G (p.Phe58Val) rs138749562 0.00066
NM_024649.5(BBS1):c.616T>G (p.Leu206Val) rs146052054 0.00066
NM_032119.4(ADGRV1):c.15177G>T (p.Gln5059His) rs201416399 0.00066
NM_033056.4(PCDH15):c.4812G>T (p.Arg1604Ser) rs148718874 0.00066
NM_033118.4(MYLK2):c.524C>A (p.Thr175Asn) rs202084078 0.00066
NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr) rs143696882 0.00066
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu) rs41276525 0.00065
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn) rs138874610 0.00065
NM_001267550.2(TTN):c.55374C>G (p.Ser18458Arg) rs200550947 0.00065
NM_001267550.2(TTN):c.63879C>T (p.Asp21293=) rs200463088 0.00065
NM_006231.4(POLE):c.3046G>A (p.Val1016Met) rs147692158 0.00065
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704 0.00065
NM_022114.4(PRDM16):c.2634C>T (p.Pro878=) rs201338158 0.00065
NM_030662.4(MAP2K2):c.1093-6T>C rs369681843 0.00065
NM_173477.5(USH1G):c.83C>T (p.Pro28Leu) rs145448362 0.00065
NM_206933.4(USH2A):c.11225A>G (p.Asn3742Ser) rs139921272 0.00065
NM_206933.4(USH2A):c.12598T>G (p.Trp4200Gly) rs114116572 0.00065
NM_206933.4(USH2A):c.4578G>T (p.Gly1526=) rs147560504 0.00065
NM_000257.4(MYH7):c.4005G>A (p.Ser1335=) rs144465613 0.00064
NM_000260.4(MYO7A):c.2283G>A (p.Arg761=) rs111033229 0.00064
NM_000335.5(SCN5A):c.630G>A (p.Val210=) rs193922727 0.00064
NM_001032283.3(TMPO):c.565+2149C>T rs34150443 0.00064
NM_001039141.3(TRIOBP):c.5767G>A (p.Ala1923Thr) rs150947392 0.00064
NM_001105206.3(LAMA4):c.3943G>A (p.Val1315Ile) rs70940811 0.00064
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met) rs61749714 0.00064
NM_001267550.2(TTN):c.50758C>G (p.Pro16920Ala) rs377289817 0.00064
NM_001267550.2(TTN):c.78896T>A (p.Val26299Asp) rs73036377 0.00064
NM_001267550.2(TTN):c.96918C>T (p.Ile32306=) rs72648266 0.00064
NM_002834.5(PTPN11):c.526-8C>A rs184804143 0.00064
NM_004006.3(DMD):c.3326A>T (p.Asn1109Ile) rs200596739 0.00064
NM_006393.3(NEBL):c.2080C>T (p.Arg694Trp) rs114875104 0.00064
NM_014000.3(VCL):c.1555A>C (p.Ile519Leu) rs141033098 0.00064
NM_032119.4(ADGRV1):c.2459A>G (p.Asn820Ser) rs144918959 0.00064
NM_194248.3(OTOF):c.3203G>A (p.Arg1068His) rs180748688 0.00064
NM_201596.3(CACNB2):c.590C>T (p.Ser197Phe) rs150528041 0.00064
NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys) rs201312636 0.00063
NM_000257.4(MYH7):c.3156G>A (p.Lys1052=) rs138294643 0.00063
NM_000260.4(MYO7A):c.2882G>A (p.Gly961Asp) rs199575418 0.00063
NM_000335.5(SCN5A):c.5357G>A (p.Ser1786Asn) rs199473316 0.00063
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln) rs149514924 0.00063
NM_001035.3(RYR2):c.4347T>C (p.Asp1449=) rs368930040 0.00063
NM_001039141.3(TRIOBP):c.202A>G (p.Thr68Ala) rs200529550 0.00063
NM_001267550.2(TTN):c.107576T>C (p.Met35859Thr) rs72629793 0.00063
NM_001267550.2(TTN):c.12401T>A (p.Ile4134Asn) rs112009206 0.00063
NM_001267550.2(TTN):c.19191G>A (p.Thr6397=) rs140495148 0.00063
NM_001267550.2(TTN):c.54710T>C (p.Leu18237Pro) rs201412693 0.00063
NM_001267550.2(TTN):c.62385C>A (p.Gly20795=) rs72646848 0.00063
NM_001267550.2(TTN):c.6790+12C>T rs200187117 0.00063
NM_001267550.2(TTN):c.72587G>A (p.Arg24196His) rs200317412 0.00063
NM_001267550.2(TTN):c.77716G>A (p.Glu25906Lys) rs56341835 0.00063
NM_001267550.2(TTN):c.84263G>A (p.Ser28088Asn) rs200450022 0.00063
NM_001267550.2(TTN):c.91601A>T (p.Asp30534Val) rs182549226 0.00063
NM_001384474.1(LOXHD1):c.5050G>A (p.Ala1684Thr) rs376122149 0.00063
NM_001386795.1(DTNA):c.2178A>C (p.Ala726=) rs145486636 0.00063
NM_004304.5(ALK):c.932G>A (p.Arg311His) rs150966028 0.00063
NM_004807.3(HS6ST1):c.1144C>T (p.Arg382Trp) rs199538589 0.00063
NM_006005.3(WFS1):c.1779G>C (p.Glu593Asp) rs144783536 0.00063
NM_016239.4(MYO15A):c.1634C>T (p.Ala545Val) rs199740747 0.00063
NM_016239.4(MYO15A):c.3622C>T (p.Arg1208Cys) rs201618718 0.00063
NM_016239.4(MYO15A):c.3979C>T (p.Leu1327=) rs146245515 0.00063
NM_022114.4(PRDM16):c.2786C>A (p.Pro929His) rs145632008 0.00063
NM_022124.6(CDH23):c.1185C>T (p.Ser395=) rs185105210 0.00063
NM_032578.4(MYPN):c.2703+13G>A rs375320760 0.00063
NM_033360.4(KRAS):c.-48_-29dup rs730880342 0.00063
NM_147196.3(TMIE):c.40G>A (p.Gly14Ser) rs397517869 0.00063
NM_170707.4(LMNA):c.1912G>A (p.Gly638Arg) rs144851946 0.00063
NM_206933.4(USH2A):c.4714C>T (p.Leu1572Phe) rs111033333 0.00063
NM_000238.4(KCNH2):c.442C>T (p.Arg148Trp) rs139544114 0.00062
NM_001145809.2(MYH14):c.2680C>A (p.Arg894=) rs34805056 0.00062
NM_001145809.2(MYH14):c.5683C>T (p.Arg1895Cys) rs200485394 0.00062
NM_001267550.2(TTN):c.20798G>C (p.Gly6933Ala) rs200118743 0.00062
NM_001267550.2(TTN):c.92294G>C (p.Arg30765Thr) rs373099440 0.00062
NM_001330.5(CTF1):c.274G>A (p.Ala92Thr) rs2234933 0.00062
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly) rs147000526 0.00062
NM_005422.4(TECTA):c.1502C>T (p.Ser501Phe) rs148426950 0.00062
NM_020297.4(ABCC9):c.2199-13G>A rs201226082 0.00062
NM_032119.4(ADGRV1):c.1131T>G (p.Ser377=) rs200435877 0.00062
NM_000080.4(CHRNE):c.103T>C (p.Tyr35His) rs144169073 0.00061
NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser) rs138776684 0.00061
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) rs36210422 0.00061
NM_001195263.2(PDZD7):c.156C>T (p.Asn52=) rs150917752 0.00061
NM_001243133.2(NLRP3):c.1639A>T (p.Ser547Cys) rs139833874 0.00061
NM_001267550.2(TTN):c.103688T>C (p.Val34563Ala) rs55945684 0.00061
NM_001267550.2(TTN):c.16313A>G (p.Lys5438Arg) rs190636272 0.00061
NM_001267550.2(TTN):c.17115C>T (p.Gly5705=) rs370036981 0.00061
NM_001267550.2(TTN):c.20335A>T (p.Ser6779Cys) rs149470241 0.00061
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met) rs142951505 0.00061
NM_001267550.2(TTN):c.39211+6C>T rs187365142 0.00061
NM_001292063.2(OTOG):c.4641G>T (p.Glu1547Asp) rs764159927 0.00061
NM_001292063.2(OTOG):c.6521A>G (p.Asn2174Ser) rs368261417 0.00061
NM_001368067.1(LDB3):c.780C>T (p.Asn260=) rs372789789 0.00061
NM_001943.5(DSG2):c.852T>C (p.Asn284=) rs62095193 0.00061
NM_002473.6(MYH9):c.4344+10C>T rs200977419 0.00061
NM_002755.4(MAP2K1):c.315C>T (p.Pro105=) rs144166521 0.00061
NM_005422.4(TECTA):c.2657A>G (p.Asn886Ser) rs146175803 0.00061
NM_017617.5(NOTCH1):c.4168C>A (p.Pro1390Thr) rs191645600 0.00061
NM_022124.6(CDH23):c.9198+13C>T rs375384238 0.00061
NM_024422.6(DSC2):c.2498G>A (p.Arg833His) rs370325533 0.00061
NM_032119.4(ADGRV1):c.12181G>T (p.Val4061Phe) rs200816323 0.00061
NM_057176.3(BSND):c.851G>A (p.Gly284Asp) rs150426464 0.00061
NM_138691.3(TMC1):c.141T>A (p.Asp47Glu) rs140388347 0.00061
NM_153676.4(USH1C):c.1086-13G>T rs200490320 0.00061
NM_206933.4(USH2A):c.12823T>A (p.Ser4275Thr) rs138607917 0.00061
NM_206933.4(USH2A):c.6924A>G (p.Ala2308=) rs148504065 0.00061
NM_206933.4(USH2A):c.8575C>T (p.Arg2859Cys) rs138087806 0.00061
NM_000257.4(MYH7):c.2769C>T (p.Asn923=) rs36211716 0.00060
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln) rs137853242 0.00060
NM_001105206.3(LAMA4):c.1035G>A (p.Thr345=) rs147069572 0.00060
NM_001105206.3(LAMA4):c.196-15G>C rs371906362 0.00060
NM_001267550.2(TTN):c.29042-2A>C rs6716782 0.00060
NM_001267550.2(TTN):c.59322A>G (p.Pro19774=) rs188063446 0.00060
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916 0.00060
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His) rs28897677 0.00060
NM_024422.6(DSC2):c.1787C>T (p.Ala596Val) rs148185335 0.00060
NM_032119.4(ADGRV1):c.14761G>A (p.Ala4921Thr) rs200115167 0.00060
NM_032383.5(HPS3):c.1152C>T (p.His384=) rs113381494 0.00060
NM_000260.4(MYO7A):c.4916C>T (p.Thr1639Met) rs200848641 0.00059
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln) rs143486492 0.00059
NM_001267550.2(TTN):c.68824G>A (p.Glu22942Lys) rs199506676 0.00059
NM_001267550.2(TTN):c.77205G>A (p.Val25735=) rs55857909 0.00059
NM_001267550.2(TTN):c.78147A>G (p.Gln26049=) rs149127072 0.00059
NM_001267550.2(TTN):c.82797C>T (p.Gly27599=) rs72648216 0.00059
NM_001378609.3(OTOGL):c.1441+10T>A rs367996419 0.00059
NM_001927.4(DES):c.934G>A (p.Asp312Asn) rs34337334 0.00059
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp) rs111033222 0.00059
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) rs202052174 0.00059
NM_024915.4(GRHL2):c.689G>A (p.Ser230Asn) rs140423160 0.00059
NM_032119.4(ADGRV1):c.1837C>A (p.Gln613Lys) rs199587998 0.00059
NM_133261.3(GIPC3):c.207C>T (p.Phe69=) rs727504653 0.00059
NM_133379.5(TTN):c.10920T>C (p.Ser3640=) rs142585268 0.00059
NM_138691.3(TMC1):c.1566+8C>T rs202184917 0.00059
NM_194248.3(OTOF):c.4216G>A (p.Asp1406Asn) rs111033352 0.00059
NM_000256.3(MYBPC3):c.3102C>T (p.Ala1034=) rs200663253 0.00058
NM_000257.4(MYH7):c.2514G>A (p.Pro838=) rs45560638 0.00058
NM_000540.3(RYR1):c.6961A>G (p.Ile2321Val) rs34390345 0.00058
NM_001032283.3(TMPO):c.565+2368G>A rs138295270 0.00058
NM_001035.3(RYR2):c.3054T>C (p.Tyr1018=) rs113422365 0.00058
NM_001039141.3(TRIOBP):c.6771G>A (p.Gln2257=) rs200793989 0.00058
NM_001267550.2(TTN):c.24952G>A (p.Val8318Ile) rs200103997 0.00058
NM_001267550.2(TTN):c.25481G>A (p.Arg8494Gln) rs201418615 0.00058
NM_001267550.2(TTN):c.79700A>G (p.Asn26567Ser) rs183844833 0.00058
NM_001292063.2(OTOG):c.8646G>A (p.Leu2882=) rs542151771 0.00058
NM_001378454.1(ALMS1):c.11584T>C (p.Ser3862Pro) rs202227966 0.00058
NM_001378454.1(ALMS1):c.11708G>A (p.Arg3903Gln) rs201673771 0.00058
NM_001927.4(DES):c.656C>T (p.Thr219Ile) rs144901249 0.00058
NM_002764.4(PRPS1):c.942C>T (p.Ser314=) rs147731055 0.00058
NM_016239.4(MYO15A):c.7984C>G (p.Leu2662Val) rs200930743 0.00058
NM_016599.5(MYOZ2):c.488T>C (p.Leu163Ser) rs143345726 0.00058
NM_022114.4(PRDM16):c.38-14G>A rs368409902 0.00058
NM_022124.6(CDH23):c.4203C>T (p.Thr1401=) rs202166096 0.00058
NM_032578.4(MYPN):c.1130G>A (p.Arg377Gln) rs147596628 0.00058
NM_206933.4(USH2A):c.10769C>T (p.Pro3590Leu) rs115403785 0.00058
NM_206933.4(USH2A):c.485+12T>C rs201857884 0.00058
NM_000379.4(XDH):c.1686+1G>C rs148412639 0.00057
NM_001035.3(RYR2):c.3230T>C (p.Val1077Ala) rs202176504 0.00057
NM_001267550.2(TTN):c.103292C>T (p.Thr34431Met) rs192001910 0.00057
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser) rs192766485 0.00057
NM_001267550.2(TTN):c.87877C>T (p.Arg29293Cys) rs191482653 0.00057
NM_004568.6(SERPINB6):c.121G>A (p.Val41Ile) rs140220538 0.00057
NM_006005.3(WFS1):c.1153G>A (p.Glu385Lys) rs71524353 0.00057
NM_022114.4(PRDM16):c.2449G>A (p.Gly817Ser) rs375308440 0.00057
NM_172364.5(CACNA2D4):c.2406C>A (p.Tyr802Ter) rs71454844 0.00057
NM_182548.4(LHFPL5):c.476G>A (p.Arg159His) rs139179263 0.00057
NM_001267550.2(TTN):c.296-14T>C rs199951296 0.00056
NM_001267550.2(TTN):c.58155C>A (p.Pro19385=) rs373587801 0.00056
NM_001354604.2(MITF):c.104+24226G>A rs373660547 0.00056
NM_001379180.1(ESRRB):c.*1535G>A rs200237229 0.00056
NM_001384474.1(LOXHD1):c.889A>C (p.Thr297Pro) rs117747744 0.00056
NM_016203.4(PRKAG2):c.250C>T (p.Arg84Trp) rs61746358 0.00056
NM_020297.4(ABCC9):c.2238-1G>A rs141281214 0.00056
NM_020975.6(RET):c.833C>A (p.Thr278Asn) rs35118262 0.00056
NM_024422.6(DSC2):c.270G>A (p.Glu90=) rs138643506 0.00056
NM_032119.4(ADGRV1):c.8161A>G (p.Ile2721Val) rs201963060 0.00056
NM_032578.4(MYPN):c.1935C>T (p.Pro645=) rs71535754 0.00056
NM_033056.4(PCDH15):c.5398G>A (p.Val1800Ile) rs111033463 0.00056
NM_133379.5(TTN):c.14078T>C (p.Ile4693Thr) rs139486133 0.00056
NM_138691.3(TMC1):c.1763+3A>G rs370898981 0.00056
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_206933.4(USH2A):c.12343C>T (p.Arg4115Cys) rs111033275 0.00056
NM_206933.4(USH2A):c.4758+3A>G rs117798425 0.00056
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg) rs201278114 0.00055
NM_000256.3(MYBPC3):c.3672C>T (p.Asp1224=) rs368221517 0.00055
NM_001134363.3(RBM20):c.448G>A (p.Ala150Thr) rs199868951 0.00055
NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu) rs146664754 0.00055
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His) rs191539637 0.00055
NM_001267550.2(TTN):c.62432A>G (p.Asp20811Gly) rs72646849 0.00055
NM_001267550.2(TTN):c.64174C>T (p.Arg21392Cys) rs72646859 0.00055
NM_002473.6(MYH9):c.3216G>A (p.Ala1072=) rs139441456 0.00055
NM_004281.4(BAG3):c.870C>G (p.Pro290=) rs140737221 0.00055
NM_004415.4(DSP):c.1778A>G (p.Asn593Ser) rs34239595 0.00055
NM_015404.4(WHRN):c.1455G>A (p.Pro485=) rs141807746 0.00055
NM_016203.4(PRKAG2):c.1106+9G>C rs200429988 0.00055
NM_020297.4(ABCC9):c.2770-13A>G rs184123387 0.00055
NM_022124.6(CDH23):c.1752+6G>A rs369013539 0.00055
NM_080680.3(COL11A2):c.4884G>C (p.Glu1628Asp) rs2229790 0.00055
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn) rs28897716 0.00054
NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu) rs2228241 0.00054
NM_000257.4(MYH7):c.3777C>T (p.His1259=) rs149103761 0.00054
NM_000548.5(TSC2):c.1609C>T (p.Arg537Cys) rs142257684 0.00054
NM_001039141.3(TRIOBP):c.5014G>T (p.Gly1672Ter) rs200045032 0.00054
NM_001103.4(ACTN2):c.1452G>A (p.Gln484=) rs200529923 0.00054
NM_001256317.3(TMPRSS3):c.412G>A (p.Ala138Thr) rs140614903 0.00054
NM_001267550.2(TTN):c.39689C>T (p.Ala13230Val) rs148140756 0.00054
NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val) rs72646855 0.00054
NM_001267550.2(TTN):c.63876C>T (p.Asn21292=) rs199598302 0.00054
NM_001267550.2(TTN):c.83171T>G (p.Val27724Gly) rs201896662 0.00054
NM_001361.5(DHODH):c.403C>T (p.Arg135Cys) rs201230446 0.00054
NM_001384140.1(PCDH15):c.1028G>A (p.Arg343Lys) rs141169746 0.00054
NM_001384140.1(PCDH15):c.3817C>A (p.Arg1273Ser) rs111033363 0.00054
NM_001943.5(DSG2):c.437G>T (p.Arg146Leu) rs113451409 0.00054
NM_001943.5(DSG2):c.44T>A (p.Leu15Gln) rs372174546 0.00054
NM_002471.4(MYH6):c.3573C>T (p.Ala1191=) rs727505358 0.00054
NM_002473.6(MYH9):c.1566G>A (p.Pro522=) rs145517108 0.00054
NM_002755.4(MAP2K1):c.69C>T (p.Thr23=) rs140749690 0.00054
NM_003672.4(CDC14A):c.31G>A (p.Ala11Thr) rs140623300 0.00054
NM_005633.4(SOS1):c.749T>C (p.Val250Ala) rs139290271 0.00054
NM_007078.3(LDB3):c.1036G>A (p.Ala346Thr) rs201968775 0.00054
NM_032119.4(ADGRV1):c.17528A>G (p.Tyr5843Cys) rs147011199 0.00054
NM_080680.3(COL11A2):c.688G>T (p.Gly230Trp) rs141430703 0.00054
NM_206933.4(USH2A):c.7301-6C>T rs375499259 0.00054
NM_206933.4(USH2A):c.8320G>A (p.Ala2774Thr) rs111033533 0.00054
NM_000038.6(APC):c.1240C>T (p.Arg414Cys) rs137854567 0.00053
NM_000138.5(FBN1):c.4683C>T (p.Ser1561=) rs148024160 0.00053
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457 0.00053
NM_000601.6(HGF):c.1891G>A (p.Val631Met) rs145494248 0.00053
NM_001005242.3(PKP2):c.1379-2054C>T rs144620127 0.00053
NM_001006630.2(CHRM2):c.860C>G (p.Thr287Ser) rs138193709 0.00053
NM_001035.3(RYR2):c.1548T>C (p.Asp516=) rs146129084 0.00053
NM_001038603.3(MARVELD2):c.176C>T (p.Pro59Leu) rs150434290 0.00053
NM_001267550.2(TTN):c.10378C>G (p.Pro3460Ala) rs201735487 0.00053
NM_001267550.2(TTN):c.18172C>T (p.Arg6058Cys) rs189127014 0.00053
NM_001267550.2(TTN):c.99031T>A (p.Ser33011Thr) rs78814506 0.00053
NM_001292063.2(OTOG):c.1050C>T (p.His350=) rs575344158 0.00053
NM_001330.5(CTF1):c.280C>T (p.Leu94=) rs397516648 0.00053
NM_001614.5(ACTG1):c.1017G>C (p.Val339=) rs111305526 0.00053
NM_001614.5(ACTG1):c.774G>A (p.Pro258=) rs61997068 0.00053
NM_003265.3(TLR3):c.1660C>T (p.Pro554Ser) rs121434431 0.00053
NM_005633.4(SOS1):c.2371C>A (p.Leu791Ile) rs142004123 0.00053
NM_015404.4(WHRN):c.191C>A (p.Ala64Asp) rs146655362 0.00053
NM_022124.6(CDH23):c.1446C>A (p.Val482=) rs200324241 0.00053
NM_022124.6(CDH23):c.5505G>A (p.Met1835Ile) rs200786014 0.00053
NM_022124.6(CDH23):c.9077+7C>T rs76114420 0.00053
NM_022124.6(CDH23):c.9942G>A (p.Thr3314=) rs376804660 0.00053
NM_032119.4(ADGRV1):c.16312A>G (p.Thr5438Ala) rs201890097 0.00053
NM_133379.5(TTN):c.14812A>G (p.Met4938Val) rs145581345 0.00053
NM_147196.3(TMIE):c.219G>A (p.Thr73=) rs202208051 0.00053
NM_000262.3(NAGA):c.479C>G (p.Ser160Cys) rs121434532 0.00052
NM_001018004.2(TPM1):c.775A>G (p.Lys259Glu) rs144045691 0.00052
NM_001042492.3(NF1):c.7461A>G (p.Thr2487=) rs149924365 0.00052
NM_001105206.3(LAMA4):c.674C>T (p.Ala225Val) rs149615862 0.00052
NM_001145809.2(MYH14):c.1919G>A (p.Arg640Gln) rs199696801 0.00052
NM_001267550.2(TTN):c.54818C>T (p.Pro18273Leu) rs201035511 0.00052
NM_002471.4(MYH6):c.3903G>A (p.Ser1301=) rs201804323 0.00052
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921 0.00052
NM_004999.4(MYO6):c.1030G>A (p.Val344Ile) rs199798449 0.00052
NM_018139.3(DNAAF2):c.1463G>A (p.Gly488Glu) rs200121200 0.00052
NM_024422.6(DSC2):c.1901G>A (p.Arg634His) rs200475862 0.00052
NM_032578.4(MYPN):c.3833G>A (p.Arg1278Gln) rs142877365 0.00052
NM_080680.3(COL11A2):c.3699C>T (p.Arg1233=) rs151098305 0.00052
NM_080680.3(COL11A2):c.4799G>A (p.Arg1600Gln) rs1799912 0.00052
NM_194248.3(OTOF):c.237G>A (p.Gly79=) rs117985483 0.00052
NM_000016.6(ACADM):c.600-18G>A rs370523609 0.00051
NM_000260.4(MYO7A):c.486C>T (p.Ala162=) rs367687624 0.00051
NM_000336.3(SCNN1B):c.1706C>T (p.Ala569Val) rs140927806 0.00051
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_000441.1(SLC26A4):c.28C>A (p.Pro10Thr) rs200102493 0.00051
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe) rs200078204 0.00051
NM_000551.4(VHL):c.463+8C>T rs5030834 0.00051
NM_001035.3(RYR2):c.10941T>G (p.Pro3647=) rs370332882 0.00051
NM_001035.3(RYR2):c.12663C>T (p.Ser4221=) rs370297602 0.00051
NM_001035.3(RYR2):c.3320C>T (p.Thr1107Met) rs200236750 0.00051
NM_001103.4(ACTN2):c.927C>T (p.Pro309=) rs145411160 0.00051
NM_001105206.3(LAMA4):c.2655C>T (p.Leu885=) rs35772073 0.00051
NM_001134363.3(RBM20):c.529A>T (p.Thr177Ser) rs397516621 0.00051
NM_001243133.2(NLRP3):c.2855C>T (p.Thr952Met) rs139814109 0.00051
NM_001267550.2(TTN):c.21404-4A>G rs72648965 0.00051
NM_001267550.2(TTN):c.23378-10C>A rs72648975 0.00051
NM_001267550.2(TTN):c.24964G>T (p.Val8322Leu) rs201571580 0.00051
NM_001267550.2(TTN):c.33827-8C>T rs371318311 0.00051
NM_001267550.2(TTN):c.47998G>C (p.Asp16000His) rs201388509 0.00051
NM_001267550.2(TTN):c.55079C>T (p.Pro18360Leu) rs192788942 0.00051
NM_001267550.2(TTN):c.77216C>G (p.Ala25739Gly) rs56391938 0.00051
NM_001267550.2(TTN):c.87611C>G (p.Thr29204Arg) rs72648228 0.00051
NM_001267550.2(TTN):c.93005G>T (p.Ser31002Ile) rs180975448 0.00051
NM_001292063.2(OTOG):c.6937C>T (p.Pro2313Ser) rs543999548 0.00051
NM_001292063.2(OTOG):c.7975G>A (p.Val2659Met) rs542442173 0.00051
NM_001378609.3(OTOGL):c.6613G>T (p.Ala2205Ser) rs374634079 0.00051
NM_002667.5(PLN):c.27C>T (p.Arg9=) rs145623013 0.00051
NM_003673.4(TCAP):c.313G>C (p.Glu105Gln) rs146906267 0.00051
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys) rs140592056 0.00051
NM_004568.6(SERPINB6):c.314C>A (p.Ser105Tyr) rs148530934 0.00051
NM_005633.4(SOS1):c.2760G>A (p.Arg920=) rs149092581 0.00051
NM_006393.3(NEBL):c.2054C>T (p.Ala685Val) rs146218038 0.00051
NM_014000.3(VCL):c.2521G>C (p.Asp841His) rs150385900 0.00051
NM_016203.4(PRKAG2):c.1318C>T (p.His440Tyr) rs201878539 0.00051
NM_017780.4(CHD7):c.2829G>A (p.Glu943=) rs374877439 0.00051
NM_020297.4(ABCC9):c.372T>C (p.Asn124=) rs377384557 0.00051
NM_022114.4(PRDM16):c.142G>A (p.Val48Met) rs199968728 0.00051
NM_022124.6(CDH23):c.67+8C>T rs186548927 0.00051
NM_033118.4(MYLK2):c.1778C>T (p.Ala593Val) rs146497334 0.00051
NM_080680.3(COL11A2):c.517C>T (p.Arg173Trp) rs146522169 0.00051
NM_144991.3(TSPEAR):c.943G>A (p.Val315Met) rs148421362 0.00051
NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys) rs200038092 0.00051
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496 0.00050
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=) rs145379951 0.00050
NM_000548.5(TSC2):c.1070C>T (p.Ala357Val) rs150195368 0.00050
NM_001005242.3(PKP2):c.1379-2109G>A rs139159464 0.00050
NM_001042492.3(NF1):c.8151G>A (p.Pro2717=) rs2285895 0.00050
NM_001077365.2(POMT1):c.42C>T (p.Asp14=) rs150937126 0.00050
NM_001146079.2(CLDN14):c.690C>T (p.His230=) rs149733854 0.00050
NM_001267550.2(TTN):c.65604T>C (p.Ala21868=) rs200825430 0.00050
NM_001292063.2(OTOG):c.7935+11G>A rs188456860 0.00050
NM_005633.4(SOS1):c.345+12_345+13dup rs397517167 0.00050
NM_006005.3(WFS1):c.2039A>C (p.Glu680Ala) rs144840779 0.00050
NM_012144.4(DNAI1):c.48+2dup rs397515363 0.00050
NM_206933.4(USH2A):c.8600C>T (p.Ser2867Leu) rs145468090 0.00050
NM_000138.5(FBN1):c.7346A>G (p.Asn2449Ser) rs146166400 0.00049
NM_000257.4(MYH7):c.2907C>T (p.His969=) rs142573531 0.00049
NM_000260.4(MYO7A):c.3283G>A (p.Glu1095Lys) rs199810429 0.00049
NM_000260.4(MYO7A):c.5559C>T (p.His1853=) rs373612656 0.00049
NM_001035.3(RYR2):c.9450-3T>C rs188671846 0.00049
NM_001105206.3(LAMA4):c.4665+15G>A rs377415750 0.00049
NM_001243133.2(NLRP3):c.2176A>G (p.Ser726Gly) rs147946775 0.00049
NM_001267550.2(TTN):c.31806C>T (p.Pro10602=) rs370080995 0.00049
NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr) rs72650064 0.00049
NM_001267550.2(TTN):c.51809G>T (p.Ser17270Ile) rs200650668 0.00049
NM_001384140.1(PCDH15):c.4671+1046A>G rs201855435 0.00049
NM_002230.4(JUP):c.1054+7A>T rs371988639 0.00049
NM_002230.4(JUP):c.297G>A (p.Ser99=) rs200976464 0.00049
NM_005633.4(SOS1):c.1203-13T>A rs145166996 0.00049
NM_007078.3(LDB3):c.566C>T (p.Ser189Leu) rs45487699 0.00049
NM_016239.4(MYO15A):c.4497G>T (p.Glu1499Asp) rs149813580 0.00049
NM_016239.4(MYO15A):c.9322G>A (p.Val3108Ile) rs201734915 0.00049
NM_017433.5(MYO3A):c.3037C>T (p.Arg1013Cys) rs140154015 0.00049
NM_020975.6(RET):c.-2C>A rs876657980 0.00049
NM_032119.4(ADGRV1):c.2112G>A (p.Pro704=) rs182990046 0.00049
NM_033337.3(CAV3):c.276C>T (p.Phe92=) rs72546669 0.00049
NM_033337.3(CAV3):c.443G>A (p.Arg148Gln) rs140575619 0.00049
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met) rs142381713 0.00049
NM_000038.6(APC):c.295C>T (p.Arg99Trp) rs139196838 0.00048
NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744 0.00048
NM_000059.4(BRCA2):c.7994A>G (p.Asp2665Gly) rs28897745 0.00048
NM_000138.5(FBN1):c.5065+10A>G rs375945405 0.00048
NM_000258.3(MYL3):c.482-14C>A rs201780962 0.00048
NM_000335.5(SCN5A):c.3875T>C (p.Phe1292Ser) rs41311127 0.00048
NM_000363.5(TNNI3):c.235C>T (p.Arg79Cys) rs3729712 0.00048
NM_000503.6(EYA1):c.1699-8T>C rs201537030 0.00048
NM_001035.3(RYR2):c.10231-4T>C rs117180147 0.00048
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962 0.00048
NM_001103.4(ACTN2):c.2367+8A>G rs112714025 0.00048
NM_001146079.2(CLDN14):c.185A>G (p.Tyr62Cys) rs148223897 0.00048
NM_001267550.2(TTN):c.30181A>C (p.Lys10061Gln) rs184153985 0.00048
NM_001267550.2(TTN):c.31763-1G>A rs202234172 0.00048
NM_001267550.2(TTN):c.55417A>G (p.Arg18473Gly) rs72646822 0.00048
NM_001267550.2(TTN):c.67542T>G (p.Thr22514=) rs72646876 0.00048
NM_001267550.2(TTN):c.74895A>C (p.Gln24965His) rs201512527 0.00048
NM_001267550.2(TTN):c.95270T>C (p.Ile31757Thr) rs72648259 0.00048
NM_001277115.2(DNAH11):c.10472G>A (p.Arg3491His) rs370932895 0.00048
NM_001292063.2(OTOG):c.335C>G (p.Ala112Gly) rs545257884 0.00048
NM_001292063.2(OTOG):c.4246C>T (p.Arg1416Trp) rs559512010 0.00048
NM_001378454.1(ALMS1):c.11353A>G (p.Ile3785Val) rs201819880 0.00048
NM_001384140.1(PCDH15):c.1256A>G (p.Asn419Ser) rs143827620 0.00048
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met) rs148176616 0.00048
NM_003068.5(SNAI2):c.365C>T (p.Ala122Val) rs181954619 0.00048
NM_004415.4(DSP):c.1574+14G>T rs200443042 0.00048
NM_005188.4(CBL):c.1227+4C>T rs201747825 0.00048
NM_006005.3(WFS1):c.2424C>T (p.Ser808=) rs56035336 0.00048
NM_020433.5(JPH2):c.572C>G (p.Pro191Arg) rs554853074 0.00048
NM_022114.4(PRDM16):c.481A>G (p.Asn161Asp) rs374664141 0.00048
NM_022124.6(CDH23):c.1078C>T (p.Leu360=) rs185917383 0.00048
NM_024334.3(TMEM43):c.705+7G>A rs201916031 0.00048
NM_032119.4(ADGRV1):c.10149C>T (p.Ser3383=) rs376298949 0.00048
NM_170707.4(LMNA):c.1911C>T (p.Phe637=) rs117939448 0.00048
NM_170707.4(LMNA):c.789G>A (p.Leu263=) rs148557956 0.00048
NM_194248.3(OTOF):c.1961G>A (p.Arg654Gln) rs184605839 0.00048
NM_194248.3(OTOF):c.4483C>A (p.Arg1495=) rs147321712 0.00048
NM_206933.4(USH2A):c.2052A>G (p.Gln684=) rs111033248 0.00048
NM_000256.3(MYBPC3):c.478C>T (p.Arg160Trp) rs193068692 0.00047
NM_000500.9(CYP21A2):c.1447C>T (p.Pro483Ser) rs776989258 0.00047
NM_001035.3(RYR2):c.8209-3A>G rs376788358 0.00047
NM_001267550.2(TTN):c.54189T>C (p.Tyr18063=) rs2303834 0.00047
NM_001267550.2(TTN):c.55925T>A (p.Leu18642Gln) rs140714512 0.00047
NM_001267550.2(TTN):c.59943C>A (p.Pro19981=) rs202017608 0.00047
NM_001386795.1(DTNA):c.955A>G (p.Met319Val) rs141981161 0.00047
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661 0.00047
NM_016239.4(MYO15A):c.3203G>T (p.Cys1068Phe) rs189061214 0.00047
NM_024915.4(GRHL2):c.454G>A (p.Val152Met) rs147703146 0.00047
NM_032119.4(ADGRV1):c.15169C>T (p.Pro5057Ser) rs183633457 0.00047
NM_206933.4(USH2A):c.12241C>T (p.Arg4081Trp) rs144783615 0.00047
NM_206933.4(USH2A):c.9203T>C (p.Val3068Ala) rs146445078 0.00047
NM_206933.4(USH2A):c.9258+15T>C rs181894778 0.00047
NM_000251.3(MSH2):c.815C>T (p.Ala272Val) rs34136999 0.00046
NM_000256.3(MYBPC3):c.1246G>A (p.Gly416Ser) rs371513491 0.00046
NM_000335.5(SCN5A):c.3663+10T>C rs200656652 0.00046
NM_000364.3(TNNT2):c.113C>T (p.Ala38Val) rs200754249 0.00046
NM_000492.4(CFTR):c.274-6T>C rs371315549 0.00046
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00046
NM_001035.3(RYR2):c.1822C>T (p.His608Tyr) rs727504718 0.00046
NM_001035.3(RYR2):c.3888C>T (p.Asn1296=) rs373721253 0.00046
NM_001035.3(RYR2):c.5619A>G (p.Ala1873=) rs373282364 0.00046
NM_001105206.3(LAMA4):c.5344C>T (p.Arg1782Cys) rs145897390 0.00046
NM_001146079.2(CLDN14):c.488C>T (p.Ala163Val) rs143797113 0.00046
NM_001267550.2(TTN):c.11788G>A (p.Glu3930Lys) rs186624523 0.00046
NM_001267550.2(TTN):c.33G>A (p.Pro11=) rs138331646 0.00046
NM_001267550.2(TTN):c.47767G>A (p.Gly15923Arg) rs371943746 0.00046
NM_001267550.2(TTN):c.52110G>A (p.Pro17370=) rs139789997 0.00046
NM_001267550.2(TTN):c.65276-8T>C rs377484398 0.00046
NM_001267550.2(TTN):c.66391A>G (p.Thr22131Ala) rs140842479 0.00046
NM_001267550.2(TTN):c.88028G>A (p.Arg29343His) rs73036368 0.00046
NM_001371333.1(DIABLO):c.315+6T>A rs370571609 0.00046
NM_001384474.1(LOXHD1):c.4523G>A (p.Arg1508Lys) rs199518750 0.00046
NM_002473.6(MYH9):c.5026A>G (p.Lys1676Glu) rs138158369 0.00046
NM_004006.3(DMD):c.4072-245C>T rs140237546 0.00046
NM_004415.4(DSP):c.8301C>G (p.Thr2767=) rs145362059 0.00046
NM_005228.5(EGFR):c.2289C>G (p.Ala763=) rs117420095 0.00046
NM_005228.5(EGFR):c.2748C>T (p.Asp916=) rs41396448 0.00046
NM_005422.4(TECTA):c.2638A>G (p.Thr880Ala) rs143315827 0.00046
NM_014476.6(PDLIM3):c.715G>A (p.Asp239Asn) rs142143310 0.00046
NM_016239.4(MYO15A):c.10094A>G (p.Gln3365Arg) rs200843771 0.00046
NM_016239.4(MYO15A):c.3133A>C (p.Thr1045Pro) rs201826872 0.00046
NM_022114.4(PRDM16):c.3110-4G>A rs201495178 0.00046
NM_024334.3(TMEM43):c.1105C>T (p.Leu369Phe) rs144152046 0.00046
NM_032119.4(ADGRV1):c.1849G>A (p.Val617Met) rs199988872 0.00046
NM_032119.4(ADGRV1):c.853C>G (p.Arg285Gly) rs200197273 0.00046
NM_144672.4(OTOA):c.120+10C>G rs200215069 0.00046
NM_153676.4(USH1C):c.648G>A (p.Leu216=) rs77137413 0.00046
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_000260.4(MYO7A):c.614T>C (p.Ile205Thr) rs200241993 0.00045
NM_000335.5(SCN5A):c.2437-5C>A rs72549411 0.00045
NM_000514.4(GDNF):c.*5G>A rs145996577 0.00045
NM_001035.3(RYR2):c.6337G>A (p.Val2113Met) rs186906598 0.00045
NM_001105206.3(LAMA4):c.921T>G (p.Ala307=) rs186498011 0.00045
NM_001267550.2(TTN):c.100400T>G (p.Val33467Gly) rs200166942 0.00045
NM_001267550.2(TTN):c.104592G>A (p.Pro34864=) rs144094650 0.00045
NM_001267550.2(TTN):c.10922T>C (p.Ile3641Thr) rs141027782 0.00045
NM_001267550.2(TTN):c.11370A>G (p.Gln3790=) rs72648918 0.00045
NM_001267550.2(TTN):c.25619C>T (p.Ser8540Phe) rs201523784 0.00045
NM_001267550.2(TTN):c.71369G>A (p.Arg23790His) rs55677134 0.00045
NM_001267550.2(TTN):c.84148A>G (p.Ile28050Val) rs201348580 0.00045
NM_001292063.2(OTOG):c.94+75G>T rs550807341 0.00045
NM_001371333.1(DIABLO):c.316-8A>G rs137928955 0.00045
NM_001378609.3(OTOGL):c.4146C>A (p.Pro1382=) rs374853700 0.00045
NM_001378609.3(OTOGL):c.4279+12C>T rs200115208 0.00045
NM_001384140.1(PCDH15):c.330C>T (p.Asn110=) rs146796009 0.00045
NM_002471.4(MYH6):c.1141+8G>T rs377327277 0.00045
NM_002691.4(POLD1):c.2052G>C (p.Gln684His) rs144143245 0.00045
NM_004004.6(GJB2):c.*1C>T rs111033327 0.00045
NM_004100.5(EYA4):c.1035G>C (p.Arg345Ser) rs140170914 0.00045
NM_015340.4(LARS2):c.2203G>A (p.Val735Ile) rs141011840 0.00045
NM_015404.4(WHRN):c.995G>A (p.Arg332Gln) rs139193948 0.00045
NM_016239.4(MYO15A):c.7665C>T (p.Ser2555=) rs183834387 0.00045
NM_016239.4(MYO15A):c.915C>T (p.Tyr305=) rs200695102 0.00045
NM_022114.4(PRDM16):c.2576C>T (p.Ser859Leu) rs370046582 0.00045
NM_022124.6(CDH23):c.5050C>T (p.Arg1684Cys) rs111033522 0.00045
NM_022124.6(CDH23):c.574G>C (p.Glu192Gln) rs199514829 0.00045
NM_024422.6(DSC2):c.2497C>T (p.Arg833Cys) rs142410803 0.00045
NM_032119.4(ADGRV1):c.14432C>A (p.Pro4811Gln) rs201747452 0.00045
NM_080680.3(COL11A2):c.1382G>A (p.Gly461Asp) rs141140798 0.00045
NM_133379.5(TTN):c.12979A>G (p.Ile4327Val) rs144226338 0.00045
NM_133379.5(TTN):c.16328T>C (p.Val5443Ala) rs145183384 0.00045
NM_144573.4(NEXN):c.732C>A (p.Pro244=) rs201171783 0.00045
NM_194248.3(OTOF):c.3706C>G (p.Arg1236Gly) rs199904558 0.00045
NM_201596.3(CACNB2):c.1776C>A (p.Asp592Glu) rs144182966 0.00045
NM_206933.4(USH2A):c.12883A>G (p.Ile4295Val) rs137868043 0.00045
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg) rs28897728 0.00044
NM_000257.4(MYH7):c.3960G>A (p.Glu1320=) rs147797612 0.00044
NM_001048174.2(MUTYH):c.11C>T (p.Pro4Leu) rs79777494 0.00044
NM_001048174.2(MUTYH):c.32G>A (p.Gly11Asp) rs75321043 0.00044
NM_001105206.3(LAMA4):c.641G>A (p.Arg214His) rs139146419 0.00044
NM_001267550.2(TTN):c.66172C>T (p.Arg22058Cys) rs199643269 0.00044
NM_001267550.2(TTN):c.84871C>T (p.Arg28291Cys) rs192152102 0.00044
NM_001267550.2(TTN):c.99345T>G (p.Gly33115=) rs56398525 0.00044
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00044
NM_002473.6(MYH9):c.3340T>C (p.Ser1114Pro) rs200901330 0.00044
NM_002700.3(POU4F3):c.230A>G (p.Asp77Gly) rs138310635 0.00044
NM_004004.6(GJB2):c.-22-6T>C rs141962118 0.00044
NM_004817.4(TJP2):c.2720T>C (p.Met907Thr) rs149659876 0.00044
NM_004817.4(TJP2):c.2880+19C>T rs200384355 0.00044
NM_006073.4(TRDN):c.1895G>A (p.Arg632Lys) rs181571822 0.00044
NM_014908.4(DOLK):c.1450A>G (p.Ile484Val) rs147630977 0.00044
NM_017433.5(MYO3A):c.3255C>T (p.Ser1085=) rs35541310 0.00044
NM_022124.6(CDH23):c.3230C>T (p.Pro1077Leu) rs202101019 0.00044
NM_022124.6(CDH23):c.5038G>A (p.Val1680Ile) rs201364852 0.00044
NM_032119.4(ADGRV1):c.4666G>A (p.Glu1556Lys) rs200955930 0.00044
NM_033118.4(MYLK2):c.834T>A (p.Asn278Lys) rs41293104 0.00044
NM_080680.3(COL11A2):c.480T>G (p.Ser160=) rs142969513 0.00044
NM_080680.3(COL11A2):c.706C>T (p.Pro236Ser) rs35116188 0.00044
NM_194248.3(OTOF):c.5038C>T (p.Arg1680Cys) rs147070644 0.00044
NM_198999.3(SLC26A5):c.1572C>T (p.Asp524=) rs191358470 0.00044
NM_000140.5(FECH):c.362A>G (p.Glu121Gly) rs141813907 0.00043
NM_000169.3(GLA):c.376A>G (p.Ser126Gly) rs149391489 0.00043
NM_000256.3(MYBPC3):c.3699G>A (p.Gln1233=) rs200162906 0.00043
NM_000260.4(MYO7A):c.1726G>A (p.Asp576Asn) rs187165412 0.00043
NM_000335.5(SCN5A):c.1044C>T (p.Pro348=) rs370346797 0.00043
NM_000335.5(SCN5A):c.1479G>A (p.Arg493=) rs138870926 0.00043
NM_001105206.3(LAMA4):c.254A>G (p.Asn85Ser) rs145301300 0.00043
NM_001122659.3(EDNRB):c.-26G>A rs2070591 0.00043
NM_001127453.2(GSDME):c.1122C>T (p.Pro374=) rs138980048 0.00043
NM_001128840.3(CACNA1D):c.6417C>T (p.Asp2139=) rs375811590 0.00043
NM_001267550.2(TTN):c.101376T>C (p.Tyr33792=) rs367732133 0.00043
NM_001267550.2(TTN):c.13969A>C (p.Asn4657His) rs200204761 0.00043
NM_001267550.2(TTN):c.34571G>A (p.Arg11524Gln) rs201622536 0.00043
NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn) rs201257644 0.00043
NM_001384140.1(PCDH15):c.942A>G (p.Gln314=) rs149481989 0.00043
NM_002471.4(MYH6):c.4905C>T (p.Asn1635=) rs143048583 0.00043
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr) rs201082652 0.00043
NM_004415.4(DSP):c.2683T>C (p.Tyr895His) rs375891215 0.00043
NM_014391.3(ANKRD1):c.417C>A (p.Phe139Leu) rs201398260 0.00043
NM_022124.6(CDH23):c.3022G>A (p.Val1008Met) rs201053044 0.00043
NM_144991.3(TSPEAR):c.791-14G>C rs199699551 0.00043
NM_206933.4(USH2A):c.11815G>A (p.Glu3939Lys) rs146264950 0.00043
NM_000256.3(MYBPC3):c.926+8C>T rs377595584 0.00042
NM_000335.5(SCN5A):c.1008G>A (p.Pro336=) rs200285003 0.00042
NM_001103.4(ACTN2):c.893G>A (p.Arg298His) rs142482143 0.00042
NM_001267550.2(TTN):c.21364G>A (p.Ala7122Thr) rs201394117 0.00042
NM_001267550.2(TTN):c.21548G>A (p.Cys7183Tyr) rs189951108 0.00042
NM_001267550.2(TTN):c.23121G>A (p.Lys7707=) rs72648971 0.00042
NM_001267550.2(TTN):c.39044-9T>A rs184888200 0.00042
NM_001267550.2(TTN):c.49413G>T (p.Trp16471Cys) rs202094100 0.00042
NM_001267550.2(TTN):c.57442A>G (p.Met19148Val) rs188185141 0.00042
NM_004415.4(DSP):c.3123C>T (p.Leu1041=) rs149929637 0.00042
NM_005379.4(MYO1A):c.658C>T (p.Arg220Trp) rs144009842 0.00042
NM_006005.3(WFS1):c.1706C>T (p.Ala569Val) rs144492050 0.00042
NM_016239.4(MYO15A):c.9792G>A (p.Gln3264=) rs149189607 0.00042
NM_133379.5(TTN):c.10617T>C (p.His3539=) rs200284932 0.00042
NM_133379.5(TTN):c.14616C>T (p.Ser4872=) rs148105798 0.00042
NM_133379.5(TTN):c.14806A>T (p.Thr4936Ser) rs72648909 0.00042
NM_144991.3(TSPEAR):c.418G>A (p.Ala140Thr) rs148967240 0.00042
NM_153676.4(USH1C):c.1430G>A (p.Arg477Gln) rs146333270 0.00042
NM_173477.5(USH1G):c.837C>G (p.Asp279Glu) rs142486910 0.00042
NM_000218.3(KCNQ1):c.811C>T (p.Leu271=) rs189991547 0.00041
NM_000335.5(SCN5A):c.5491C>G (p.Gln1831Glu) rs199473320 0.00041
NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser) rs118203670 0.00041
NM_001031679.3(MSRB3):c.530C>T (p.Pro177Leu) rs144038296 0.00041
NM_001035.3(RYR2):c.12705C>T (p.Phe4235=) rs373606009 0.00041
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg) rs138977195 0.00041
NM_001128840.3(CACNA1D):c.1378G>A (p.Gly460Ser) rs35874056 0.00041
NM_001267550.2(TTN):c.20743G>T (p.Ala6915Ser) rs201728165 0.00041
NM_001267550.2(TTN):c.30433+11T>G rs199848546 0.00041
NM_001267550.2(TTN):c.47379C>T (p.Tyr15793=) rs374281025 0.00041
NM_001267550.2(TTN):c.71036G>A (p.Arg23679Lys) rs200144345 0.00041
NM_001267550.2(TTN):c.72181A>G (p.Met24061Val) rs201482015 0.00041
NM_001267550.2(TTN):c.7523A>G (p.His2508Arg) rs146970027 0.00041
NM_001267550.2(TTN):c.79863G>A (p.Thr26621=) rs186402008 0.00041
NM_001267550.2(TTN):c.81105C>A (p.Thr27035=) rs72648212 0.00041
NM_001267550.2(TTN):c.88459G>A (p.Val29487Met) rs200899806 0.00041
NM_001267550.2(TTN):c.93367G>C (p.Val31123Leu) rs202096200 0.00041
NM_001267550.2(TTN):c.99901G>A (p.Glu33301Lys) rs72648278 0.00041
NM_001371333.1(DIABLO):c.19T>A (p.Trp7Arg) rs139511903 0.00041
NM_001384474.1(LOXHD1):c.722A>G (p.Asn241Ser) rs191697915 0.00041
NM_002471.4(MYH6):c.643-5C>T rs199859986 0.00041
NM_002473.6(MYH9):c.4878C>T (p.Ile1626=) rs143947828 0.00041
NM_004415.4(DSP):c.2723G>A (p.Arg908His) rs142494121 0.00041
NM_004415.4(DSP):c.5167G>C (p.Glu1723Gln) rs142803672 0.00041
NM_004700.4(KCNQ4):c.946-12C>G rs146802754 0.00041
NM_004817.4(TJP2):c.918C>T (p.Ile306=) rs374523970 0.00041
NM_006005.3(WFS1):c.2202C>T (p.Leu734=) rs140427062 0.00041
NM_006073.4(TRDN):c.1193A>T (p.Glu398Val) rs374355537 0.00041
NM_016203.4(PRKAG2):c.946+3A>G rs376173303 0.00041
NM_017433.5(MYO3A):c.3880A>G (p.Ile1294Val) rs56261037 0.00041
NM_022124.6(CDH23):c.8823C>T (p.Asn2941=) rs370184182 0.00041
NM_024334.3(TMEM43):c.45C>A (p.Val15=) rs150334659 0.00041
NM_024747.6(HPS6):c.2250G>A (p.Ser750=) rs139161525 0.00041
NM_053025.4(MYLK):c.1991A>G (p.Gln664Arg) rs200273207 0.00041
NM_178452.6(DNAAF1):c.1698+1G>A rs139519641 0.00041
NM_206933.4(USH2A):c.10470G>T (p.Val3490=) rs201401001 0.00041
NM_000038.6(APC):c.2805C>T (p.Tyr935=) rs137854575 0.00040
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) rs148158093 0.00040
NM_000260.4(MYO7A):c.2506C>T (p.Arg836Cys) rs375510570 0.00040
NM_000335.5(SCN5A):c.5708C>T (p.Ser1903Leu) rs150264233 0.00040
NM_000371.4(TTR):c.328C>A (p.His110Asn) rs121918074 0.00040
NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642 0.00040
NM_001105206.3(LAMA4):c.3054G>T (p.Leu1018Phe) rs183262122 0.00040
NM_001267550.2(TTN):c.81899G>A (p.Arg27300His) rs55850344 0.00040
NM_001267550.2(TTN):c.97538G>A (p.Arg32513His) rs201080904 0.00040
NM_001292063.2(OTOG):c.4021C>T (p.Arg1341Trp) rs200215464 0.00040
NM_001368067.1(LDB3):c.771G>A (p.Thr257=) rs144445130 0.00040
NM_004006.3(DMD):c.2490C>T (p.Asn830=) rs72468679 0.00040
NM_004281.4(BAG3):c.888C>T (p.His296=) rs139399890 0.00040
NM_005159.5(ACTC1):c.219C>T (p.Ile73=) rs376566924 0.00040
NM_006005.3(WFS1):c.402G>A (p.Ala134=) rs199533137 0.00040
NM_007078.3(LDB3):c.-15G>A rs201865389 0.00040
NM_057176.3(BSND):c.597T>C (p.Asp199=) rs200886926 0.00040
NM_194248.3(OTOF):c.4548C>T (p.Tyr1516=) rs139525746 0.00040
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_000251.3(MSH2):c.1168C>T (p.Leu390Phe) rs17224367 0.00039
NM_000256.3(MYBPC3):c.1544A>G (p.Asn515Ser) rs181834806 0.00039
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp) rs121908759 0.00039
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) rs104893829 0.00039
NM_001005242.3(PKP2):c.1418A>G (p.Asn473Ser) rs144536197 0.00039
NM_001035.3(RYR2):c.9519T>C (p.Thr3173=) rs371931287 0.00039
NM_001105206.3(LAMA4):c.863C>G (p.Ala288Gly) rs150084275 0.00039
NM_001127222.2(CACNA1A):c.5897G>A (p.Arg1966Gln) rs199886234 0.00039
NM_001145809.2(MYH14):c.5778C>T (p.Leu1926=) rs201839634 0.00039
NM_001232.4(CASQ2):c.928G>A (p.Asp310Asn) rs141314684 0.00039
NM_001267550.2(TTN):c.17224C>T (p.Leu5742Phe) rs72648943 0.00039
NM_001267550.2(TTN):c.21148C>T (p.Leu7050=) rs202089818 0.00039
NM_001267550.2(TTN):c.32093G>A (p.Arg10698Gln) rs200161147 0.00039
NM_001267550.2(TTN):c.32197+11G>A rs369265969 0.00039
NM_001267550.2(TTN):c.59319G>A (p.Glu19773=) rs367622770 0.00039
NM_001384140.1(PCDH15):c.2290C>T (p.Arg764Cys) rs192813057 0.00039
NM_001384140.1(PCDH15):c.2884C>T (p.Arg962Cys) rs201816080 0.00039
NM_001384140.1(PCDH15):c.3451G>A (p.Gly1151Arg) rs149478475 0.00039
NM_002294.3(LAMP2):c.586A>T (p.Thr196Ser) rs138991195 0.00039
NM_002473.6(MYH9):c.769+15C>T rs201691359 0.00039
NM_004006.3(DMD):c.6828C>T (p.Pro2276=) rs72466595 0.00039
NM_004415.4(DSP):c.4500G>T (p.Leu1500=) rs372881903 0.00039
NM_004999.4(MYO6):c.2836C>T (p.Arg946Cys) rs141845119 0.00039
NM_015404.4(WHRN):c.1678G>A (p.Ala560Thr) rs182072601 0.00039
NM_020297.4(ABCC9):c.2050G>A (p.Gly684Ser) rs148174226 0.00039
NM_020297.4(ABCC9):c.3030T>C (p.Ala1010=) rs76102634 0.00039
NM_020975.6(RET):c.1946C>T (p.Ser649Leu) rs148935214 0.00039
NM_194248.3(OTOF):c.5991C>T (p.Ala1997=) rs150691499 0.00039
NM_000092.5(COL4A4):c.4349T>C (p.Ile1450Thr) rs72969704 0.00038
NM_000138.5(FBN1):c.2895G>A (p.Glu965=) rs140591 0.00038
NM_000218.3(KCNQ1):c.1860C>T (p.His620=) rs139893266 0.00038
NM_000251.3(MSH2):c.1511-41G>C rs202215396 0.00038
NM_000256.3(MYBPC3):c.3787C>T (p.Arg1263Trp) rs370338674 0.00038
NM_000335.5(SCN5A):c.3748G>A (p.Val1250Met) rs199473600 0.00038
NM_000432.4(MYL2):c.141C>A (p.Asn47Lys) rs199474808 0.00038
NM_001032283.3(TMPO):c.565+1105C>T rs138790561 0.00038
NM_001035.3(RYR2):c.11246-11del rs397516503 0.00038
NM_001035.3(RYR2):c.11496C>T (p.Asp3832=) rs397516505 0.00038
NM_001035.3(RYR2):c.12919C>T (p.Arg4307Cys) rs200092869 0.00038
NM_001145809.2(MYH14):c.4705G>T (p.Ala1569Ser) rs145522874 0.00038
NM_001195263.2(PDZD7):c.1411T>C (p.Phe471Leu) rs141181035 0.00038
NM_001199107.2(TBC1D24):c.204G>A (p.Thr68=) rs201374999 0.00038
NM_001267550.2(TTN):c.180T>C (p.Asp60=) rs144750850 0.00038
NM_001267550.2(TTN):c.26694G>T (p.Gly8898=) rs199525540 0.00038
NM_001267550.2(TTN):c.32557C>T (p.Pro10853Ser) rs201738153 0.00038
NM_001267550.2(TTN):c.69231T>C (p.Leu23077=) rs12615797 0.00038
NM_001378454.1(ALMS1):c.3307C>G (p.Pro1103Ala) rs200257398 0.00038
NM_001943.5(DSG2):c.1781T>C (p.Leu594Pro) rs199681901 0.00038
NM_004006.3(DMD):c.5181A>T (p.Ile1727=) rs200887855 0.00038
NM_004281.4(BAG3):c.821C>T (p.Ser274Leu) rs143919208 0.00038
NM_004415.4(DSP):c.688G>A (p.Asp230Asn) rs147315869 0.00038
NM_020297.4(ABCC9):c.1200G>A (p.Thr400=) rs150096625 0.00038
NM_020433.5(JPH2):c.1204G>A (p.Glu402Lys) rs147407445 0.00038
NM_032119.4(ADGRV1):c.15608A>G (p.Glu5203Gly) rs202106463 0.00038
NM_144672.4(OTOA):c.2120C>T (p.Ala707Val) rs145160241 0.00038
NM_178335.3(CCDC50):c.1429+5G>A rs375535283 0.00038
NM_194248.3(OTOF):c.2215-155A>G rs143933877 0.00038
NM_194248.3(OTOF):c.3332C>T (p.Pro1111Leu) rs141972928 0.00038
NM_000218.3(KCNQ1):c.1800G>A (p.Thr600=) rs147091980 0.00037
NM_000249.4(MLH1):c.977T>C (p.Val326Ala) rs63751049 0.00037
NM_000441.2(SLC26A4):c.441G>A (p.Met147Ile) rs201905280 0.00037
NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser) rs142896669 0.00037
NM_001128840.3(CACNA1D):c.1477T>A (p.Cys493Ser) rs139380111 0.00037
NM_001267550.2(TTN):c.16546G>T (p.Asp5516Tyr) rs72648940 0.00037
NM_001386795.1(DTNA):c.1480G>A (p.Asp494Asn) rs144880521 0.00037
NM_001943.5(DSG2):c.716T>C (p.Val239Ala) rs200997703 0.00037
NM_004100.5(EYA4):c.979G>A (p.Asp327Asn) rs144415484 0.00037
NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln) rs184154918 0.00037
NM_017433.5(MYO3A):c.3352A>G (p.Thr1118Ala) rs138955440 0.00037
NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val) rs111033536 0.00037
NM_032119.4(ADGRV1):c.6559A>G (p.Ile2187Val) rs200512504 0.00037
NM_032578.4(MYPN):c.1662A>C (p.Ala554=) rs71584488 0.00037
NM_033118.4(MYLK2):c.783G>A (p.Pro261=) rs144621796 0.00037
NM_000179.3(MSH6):c.2561A>T (p.Lys854Met) rs34374438 0.00036
NM_000218.3(KCNQ1):c.458C>T (p.Thr153Met) rs143709408 0.00036
NM_000256.3(MYBPC3):c.1286C>T (p.Ala429Val) rs370412052 0.00036
NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys) rs199669878 0.00036
NM_000256.3(MYBPC3):c.906-7G>T rs397516079 0.00036
NM_000257.4(MYH7):c.2349C>T (p.Arg783=) rs139882431 0.00036
NM_000258.3(MYL3):c.307+15C>T rs184025552 0.00036
NM_000260.4(MYO7A):c.449G>A (p.Arg150Gln) rs202245413 0.00036
NM_000260.4(MYO7A):c.6615G>A (p.Met2205Ile) rs200359303 0.00036
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00036
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg) rs121912775 0.00036
NM_001039141.3(TRIOBP):c.6362C>T (p.Ser2121Leu) rs201724032 0.00036
NM_001040151.2(SCN3B):c.29T>C (p.Leu10Pro) rs121918282 0.00036
NM_001103.4(ACTN2):c.1975-12C>T rs371352710 0.00036
NM_001127453.2(GSDME):c.1208T>C (p.Leu403Pro) rs199971778 0.00036
NM_001128840.3(CACNA1D):c.2729G>A (p.Arg910His) rs115066564 0.00036
NM_001128840.3(CACNA1D):c.3853G>A (p.Ala1285Thr) rs144474773 0.00036
NM_001134363.3(RBM20):c.2887A>G (p.Lys963Glu) rs371951525 0.00036
NM_001145809.2(MYH14):c.1115-4C>T rs142696359 0.00036
NM_001145809.2(MYH14):c.4753-5A>G rs118097099 0.00036
NM_001267550.2(TTN):c.69904G>A (p.Val23302Ile) rs190421400 0.00036
NM_001267550.2(TTN):c.75361A>G (p.Ile25121Val) rs199508062 0.00036
NM_001267550.2(TTN):c.79410G>A (p.Gly26470=) rs140942979 0.00036
NM_001267550.2(TTN):c.9488G>A (p.Arg3163His) rs149755500 0.00036
NM_001393500.2(TOMT):c.596C>T (p.Ala199Val) rs540371915 0.00036
NM_002230.4(JUP):c.633C>T (p.Asn211=) rs372145644 0.00036
NM_002471.4(MYH6):c.4136C>T (p.Thr1379Met) rs145611185 0.00036
NM_004281.3(BAG3):c.772C>T (p.Arg258Trp) rs117671123 0.00036
NM_004568.6(SERPINB6):c.996C>T (p.Ala332=) rs147792064 0.00036
NM_004612.4(TGFBR1):c.1433A>G (p.Asn478Ser) rs141259922 0.00036
NM_005188.4(CBL):c.12C>T (p.Asn4=) rs371567712 0.00036
NM_005219.5(DIAPH1):c.2224C>G (p.Pro742Ala) rs199749212 0.00036
NM_006073.4(TRDN):c.1472-12G>A rs375364108 0.00036
NM_006393.3(NEBL):c.1962+7A>G rs371630900 0.00036
NM_007078.3(LDB3):c.1594G>C (p.Ala532Pro) rs143764931 0.00036
NM_007078.3(LDB3):c.664G>A (p.Ala222Thr) rs139922045 0.00036
NM_016203.4(PRKAG2):c.251G>A (p.Arg84Gln) rs201953758 0.00036
NM_016239.4(MYO15A):c.10403G>A (p.Arg3468Gln) rs200456053 0.00036
NM_016239.4(MYO15A):c.3659G>A (p.Gly1220Glu) rs201689819 0.00036
NM_016239.4(MYO15A):c.6743C>T (p.Ala2248Val) rs199831544 0.00036
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu) rs28939378 0.00036
NM_024422.6(DSC2):c.1914G>C (p.Gln638His) rs147742157 0.00036
NM_032119.4(ADGRV1):c.1718G>T (p.Gly573Val) rs200789563 0.00036
NM_032119.4(ADGRV1):c.4032C>T (p.Tyr1344=) rs376636949 0.00036
NM_032119.4(ADGRV1):c.6187T>C (p.Leu2063=) rs75019370 0.00036
NM_032119.4(ADGRV1):c.9440G>A (p.Arg3147Gln) rs200792658 0.00036
NM_080680.3(COL11A2):c.4265C>T (p.Pro1422Leu) rs555936333 0.00036
NM_133379.5(TTN):c.10646G>A (p.Arg3549His) rs148115514 0.00036
NM_194248.3(OTOF):c.1640C>T (p.Thr547Met) rs200191563 0.00036
NM_194248.3(OTOF):c.748C>T (p.Arg250Trp) rs373680242 0.00036
NM_203447.4(DOCK8):c.54-1G>T rs192864327 0.00036
NM_000256.3(MYBPC3):c.1855G>A (p.Glu619Lys) rs200352299 0.00035
NM_000257.4(MYH7):c.2334C>T (p.Asp778=) rs2069544 0.00035
NM_000260.4(MYO7A):c.3602G>C (p.Cys1201Ser) rs117966637 0.00035
NM_000260.4(MYO7A):c.849+7C>G rs370740228 0.00035
NM_000503.6(EYA1):c.35G>A (p.Arg12His) rs74720958 0.00035
NM_001039141.3(TRIOBP):c.4329A>G (p.Leu1443=) rs547759535 0.00035
NM_001048174.2(MUTYH):c.850-2A>G rs77542170 0.00035
NM_001105206.3(LAMA4):c.141G>A (p.Pro47=) rs141926228 0.00035
NM_001128840.3(CACNA1D):c.5296G>C (p.Ala1766Pro) rs199874790 0.00035
NM_001199107.2(TBC1D24):c.1143-15G>A rs371213803 0.00035
NM_001267550.2(TTN):c.57212T>C (p.Ile19071Thr) rs200001206 0.00035
NM_001267550.2(TTN):c.63577C>T (p.Arg21193Cys) rs376800688 0.00035
NM_001267550.2(TTN):c.70907G>A (p.Arg23636His) rs56071233 0.00035
NM_001267550.2(TTN):c.78892G>A (p.Gly26298Arg) rs72648205 0.00035
NM_001267550.2(TTN):c.88090G>A (p.Gly29364Ser) rs183013408 0.00035
NM_001292063.2(OTOG):c.6092C>T (p.Thr2031Ile) rs545321215 0.00035
NM_004006.3(DMD):c.1095A>C (p.Gln365His) rs1800266 0.00035
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) rs199946797 0.00035
NM_006393.3(NEBL):c.2148+4T>C rs193163659 0.00035
NM_015404.4(WHRN):c.1887G>A (p.Pro629=) rs143443833 0.00035
NM_022114.4(PRDM16):c.1093G>T (p.Ala365Ser) rs200562747 0.00035
NM_022124.6(CDH23):c.6809G>A (p.Arg2270His) rs139409005 0.00035
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys) rs41281336 0.00035
NM_024334.3(TMEM43):c.484G>A (p.Asp162Asn) rs150425166 0.00035
NM_024422.6(DSC2):c.1775C>T (p.Ala592Val) rs140232809 0.00035
NM_032119.4(ADGRV1):c.5295C>G (p.Phe1765Leu) rs201388114 0.00035
NM_144573.4(NEXN):c.512T>C (p.Ile171Thr) rs372065024 0.00035
NM_194248.3(OTOF):c.2650G>A (p.Ala884Thr) rs144594692 0.00035
NM_207034.3(EDN3):c.426G>A (p.Ala142=) rs187049336 0.00035
NM_000038.6(APC):c.607C>G (p.Gln203Glu) rs141576417 0.00034
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala) rs201273753 0.00034
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr) rs63750365 0.00034
NM_000256.3(MYBPC3):c.471C>T (p.Phe157=) rs150291001 0.00034
NM_000257.4(MYH7):c.4909G>A (p.Ala1637Thr) rs141122361 0.00034
NM_000260.4(MYO7A):c.4757A>G (p.Asn1586Ser) rs201251963 0.00034
NM_000260.4(MYO7A):c.5169-5G>A rs727505232 0.00034
NM_000260.4(MYO7A):c.687C>T (p.Gly229=) rs371142158 0.00034
NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg) rs199473182 0.00034
NM_000335.5(SCN5A):c.5709G>A (p.Ser1903=) rs376826051 0.00034
NM_000414.4(HSD17B4):c.948A>G (p.Ala316=) rs192301957 0.00034
NM_000441.1(SLC26A4):c.-60A>G rs545973091 0.00034
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190 0.00034
NM_001005242.3(PKP2):c.2355T>C (p.Asp785=) rs142362933 0.00034
NM_001034853.2(RPGR):c.141T>G (p.Ser47=) rs62638631 0.00034
NM_001039141.3(TRIOBP):c.4783C>T (p.Arg1595Cys) rs201117318 0.00034
NM_001128840.3(CACNA1D):c.2250C>A (p.Ile750=) rs41276445 0.00034
NM_001145809.2(MYH14):c.5960+8C>T rs373176553 0.00034
NM_001267550.2(TTN):c.14998C>T (p.Arg5000Cys) rs369933152 0.00034
NM_001267550.2(TTN):c.28187C>T (p.Pro9396Leu) rs373065549 0.00034
NM_001267550.2(TTN):c.53287+6G>A rs149890360 0.00034
NM_001267550.2(TTN):c.55449C>T (p.Pro18483=) rs187366691 0.00034
NM_001267550.2(TTN):c.60005A>G (p.Asp20002Gly) rs199512049 0.00034
NM_002473.6(MYH9):c.4818G>A (p.Ser1606=) rs202132383 0.00034
NM_002524.5(NRAS):c.360G>A (p.Leu120=) rs143020946 0.00034
NM_003673.4(TCAP):c.60C>G (p.Ala20=) rs146502276 0.00034
NM_004006.3(DMD):c.2539A>G (p.Thr847Ala) rs138145424 0.00034
NM_004817.4(TJP2):c.1258C>T (p.Arg420Cys) rs199761505 0.00034
NM_014444.5(TUBGCP4):c.1746G>T (p.Leu582=) rs200092283 0.00034
NM_016239.4(MYO15A):c.7069G>A (p.Gly2357Ser) rs201540919 0.00034
NM_017534.6(MYH2):c.2414T>C (p.Val805Ala) rs200662973 0.00034
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer) rs747253294 0.00034
NM_020433.5(JPH2):c.780C>T (p.Ala260=) rs199840543 0.00034
NM_022124.6(CDH23):c.9617G>A (p.Arg3206His) rs374156784 0.00034
NM_024009.3(GJB3):c.-4C>T rs200902087 0.00034
NM_024426.6(WT1):c.662-6C>A rs372418954 0.00034
NM_030662.4(MAP2K2):c.1140C>T (p.Ala380=) rs146618055 0.00034
NM_032119.4(ADGRV1):c.11562C>T (p.Ala3854=) rs182115637 0.00034
NM_032119.4(ADGRV1):c.4507G>A (p.Ala1503Thr) rs201391886 0.00034
NM_057176.3(BSND):c.309G>C (p.Glu103Asp) rs200246335 0.00034
NM_133379.5(TTN):c.15193C>T (p.Pro5065Ser) rs200953966 0.00034
NM_133379.5(TTN):c.15575G>A (p.Arg5192Lys) rs62179016 0.00034
NM_144991.3(TSPEAR):c.419C>A (p.Ala140Asp) rs147904376 0.00034
NM_194248.3(OTOF):c.2507G>A (p.Arg836His) rs200670445 0.00034
NM_206933.4(USH2A):c.5609G>A (p.Arg1870Gln) rs111033409 0.00034
NM_000335.5(SCN5A):c.3259G>A (p.Ala1087Thr) rs369704754 0.00033
NM_001267550.2(TTN):c.31837C>G (p.Pro10613Ala) rs200213832 0.00033
NM_001267550.2(TTN):c.45599C>G (p.Ala15200Gly) rs201057307 0.00033
NM_001292063.2(OTOG):c.1984C>T (p.Pro662Ser) rs547173007 0.00033
NM_004281.4(BAG3):c.230C>T (p.Pro77Leu) rs141355480 0.00033
NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys) rs147415451 0.00033
NM_005422.4(TECTA):c.1291A>T (p.Thr431Ser) rs138843691 0.00033
NM_005548.3(KARS1):c.1485A>G (p.Ile495Met) rs144274136 0.00033
NM_006941.4(SOX10):c.753G>A (p.Ser251=) rs376907937 0.00033
NM_014000.3(VCL):c.492T>G (p.Leu164=) rs143702799 0.00033
NM_017433.5(MYO3A):c.3932C>G (p.Thr1311Ser) rs146693681 0.00033
NM_020433.5(JPH2):c.1107T>C (p.Ser369=) rs148311735 0.00033
NM_206933.4(USH2A):c.1784T>C (p.Phe595Ser) rs200496467 0.00033
NM_206933.4(USH2A):c.6590C>T (p.Thr2197Ile) rs140487302 0.00033
NM_000059.4(BRCA2):c.223G>C (p.Ala75Pro) rs28897701 0.00032
NM_000091.5(COL4A3):c.3270A>C (p.Pro1090=) rs201989155 0.00032
NM_000138.5(FBN1):c.5788+10C>A rs371560107 0.00032
NM_000179.3(MSH6):c.3488A>T (p.Glu1163Val) rs63750252 0.00032
NM_000257.4(MYH7):c.4188G>A (p.Arg1396=) rs200852418 0.00032
NM_000260.4(MYO7A):c.5108C>T (p.Ala1703Val) rs199561332 0.00032
NM_000260.4(MYO7A):c.5253G>T (p.Pro1751=) rs377388669 0.00032
NM_000432.4(MYL2):c.342G>A (p.Leu114=) rs199572927 0.00032
NM_000503.6(EYA1):c.966+4C>T rs139429307 0.00032
NM_001103.4(ACTN2):c.2601C>T (p.Pro867=) rs147245615 0.00032
NM_001127453.2(GSDME):c.712C>T (p.Arg238Ter) rs200758965 0.00032
NM_001267550.2(TTN):c.107753G>A (p.Cys35918Tyr) rs193212275 0.00032
NM_001267550.2(TTN):c.156C>T (p.Pro52=) rs72647842 0.00032
NM_001267550.2(TTN):c.26528C>T (p.Thr8843Met) rs72648990 0.00032
NM_001267550.2(TTN):c.39128-14T>C rs200916144 0.00032
NM_001267550.2(TTN):c.62943T>C (p.Thr20981=) rs184863287 0.00032
NM_001267550.2(TTN):c.68864G>C (p.Gly22955Ala) rs201381085 0.00032
NM_001267550.2(TTN):c.80425G>A (p.Gly26809Ser) rs369941201 0.00032
NM_001267550.2(TTN):c.9789C>T (p.Ser3263=) rs138313387 0.00032
NM_001292063.2(OTOG):c.4002C>T (p.Phe1334=) rs545896255 0.00032
NM_001378454.1(ALMS1):c.10238A>G (p.Glu3413Gly) rs184779459 0.00032
NM_002473.6(MYH9):c.1491C>T (p.Ile497=) rs146487404 0.00032
NM_002473.6(MYH9):c.3943-7C>A rs376396278 0.00032
NM_002473.6(MYH9):c.4831G>A (p.Ala1611Thr) rs150029980 0.00032
NM_003242.6(TGFBR2):c.1525-7G>A rs377499122 0.00032
NM_004006.3(DMD):c.5010G>T (p.Trp1670Cys) rs727503828 0.00032
NM_005422.4(TECTA):c.5836T>C (p.Tyr1946His) rs144343770 0.00032
NM_006005.3(WFS1):c.647C>G (p.Pro216Arg) rs141233896 0.00032
NM_006383.4(CIB2):c.311G>A (p.Arg104Gln) rs200697103 0.00032
NM_016239.4(MYO15A):c.9160C>G (p.Pro3054Ala) rs368760461 0.00032
NM_020297.4(ABCC9):c.1887G>T (p.Glu629Asp) rs150036969 0.00032
NM_032119.4(ADGRV1):c.12207C>T (p.Thr4069=) rs202066007 0.00032
NM_194248.3(OTOF):c.157G>A (p.Ala53Thr) rs144915302 0.00032
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375 0.00031
NM_000251.3(MSH2):c.435T>G (p.Ile145Met) rs63750124 0.00031
NM_000260.4(MYO7A):c.448C>A (p.Arg150=) rs121965079 0.00031
NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser) rs61761869 0.00031
NM_000335.5(SCN5A):c.456C>T (p.Asp152=) rs190803993 0.00031
NM_001035.3(RYR2):c.11092-6A>T rs397516501 0.00031
NM_001035.3(RYR2):c.774-14G>T rs370114411 0.00031
NM_001039141.3(TRIOBP):c.6556G>A (p.Gly2186Ser) rs191901426 0.00031
NM_001039213.4(CEACAM16):c.1125G>A (p.Ala375=) rs373050209 0.00031
NM_001127453.2(GSDME):c.1118G>A (p.Gly373Asp) rs146399987 0.00031
NM_001199107.2(TBC1D24):c.179G>A (p.Arg60Gln) rs200226466 0.00031
NM_001232.4(CASQ2):c.1131A>T (p.Glu377Asp) rs148824162 0.00031
NM_001243133.2(NLRP3):c.208G>A (p.Val70Met) rs117287351 0.00031
NM_001267550.2(TTN):c.43690T>A (p.Ser14564Thr) rs181189778 0.00031
NM_001267550.2(TTN):c.52927C>T (p.Arg17643Trp) rs375944265 0.00031
NM_001267550.2(TTN):c.67706G>A (p.Arg22569Gln) rs185620750 0.00031
NM_001267550.2(TTN):c.70491C>T (p.Thr23497=) rs372382315 0.00031
NM_001267550.2(TTN):c.78855T>C (p.Asp26285=) rs139953862 0.00031
NM_001267550.2(TTN):c.86526T>G (p.Val28842=) rs72648226 0.00031
NM_001267550.2(TTN):c.9487C>T (p.Arg3163Cys) rs140664731 0.00031
NM_001276345.2(TNNT2):c.720-13_720-11del rs397516480 0.00031
NM_001277115.2(DNAH11):c.5132A>G (p.Gln1711Arg) rs189432084 0.00031
NM_001369.3(DNAH5):c.11570+8T>C rs369789559 0.00031
NM_002471.4(MYH6):c.4359+5A>G rs193283041 0.00031
NM_002471.4(MYH6):c.4359+8A>C rs188675676 0.00031
NM_002471.4(MYH6):c.5112G>A (p.Ala1704=) rs150450178 0.00031
NM_002473.6(MYH9):c.2500-14A>G rs199505086 0.00031
NM_004004.6(GJB2):c.499G>A (p.Val167Met) rs111033360 0.00031
NM_004415.4(DSP):c.273+5G>A rs200473206 0.00031
NM_004985.5(KRAS):c.451-5565G>A rs200970347 0.00031
NM_005422.4(TECTA):c.3406G>C (p.Asp1136His) rs147890616 0.00031
NM_005982.4(SIX1):c.162G>A (p.Ala54=) rs150550985 0.00031
NM_006005.3(WFS1):c.594G>A (p.Ala198=) rs563931269 0.00031
NM_006005.3(WFS1):c.799G>A (p.Asp267Asn) rs145677667 0.00031
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687 0.00031
NM_014000.3(VCL):c.1626C>T (p.Leu542=) rs150402791 0.00031
NM_014476.6(PDLIM3):c.169A>G (p.Thr57Ala) rs142951316 0.00031
NM_014908.4(DOLK):c.1394G>A (p.Arg465His) rs148930043 0.00031
NM_020297.4(ABCC9):c.2154C>T (p.Ile718=) rs74067815 0.00031
NM_020297.4(ABCC9):c.3339T>G (p.Ser1113=) rs138280089 0.00031
NM_022124.6(CDH23):c.10021C>T (p.Arg3341Cys) rs370074117 0.00031
NM_022124.6(CDH23):c.2341G>A (p.Ala781Thr) rs375918283 0.00031
NM_024334.3(TMEM43):c.442+7G>A rs373590238 0.00031
NM_080680.3(COL11A2):c.2555G>A (p.Arg852Gln) rs147927477 0.00031
NM_133261.3(GIPC3):c.20G>A (p.Arg7Gln) rs998073430 0.00031
NM_133261.3(GIPC3):c.440G>A (p.Arg147Gln) rs141293401 0.00031
NM_145038.5(DRC1):c.352C>T (p.Gln118Ter) rs142371860 0.00031
NM_173477.5(USH1G):c.310A>G (p.Met104Val) rs149529031 0.00031
NM_194248.3(OTOF):c.4023+1G>A rs186810296 0.00031
NM_206933.4(USH2A):c.9915G>C (p.Glu3305Asp) rs145278250 0.00031
NM_207034.3(EDN3):c.208G>A (p.Ala70Thr) rs369429604 0.00031
NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile) rs183306990 0.00030
NM_000256.3(MYBPC3):c.772+10C>T rs375525278 0.00030
NM_000257.4(MYH7):c.3918C>T (p.Leu1306=) rs144420313 0.00030
NM_000260.4(MYO7A):c.731G>A (p.Arg244His) rs121965081 0.00030
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu) rs12720452 0.00030
NM_000441.2(SLC26A4):c.1924T>C (p.Ser642Pro) rs397516423 0.00030
NM_000441.2(SLC26A4):c.2211G>C (p.Glu737Asp) rs200664061 0.00030
NM_001039141.3(TRIOBP):c.5853G>A (p.Leu1951=) rs55821172 0.00030
NM_001267550.2(TTN):c.32071G>A (p.Ala10691Thr) rs371452173 0.00030
NM_001267550.2(TTN):c.39057G>A (p.Pro13019=) rs371945519 0.00030
NM_001267550.2(TTN):c.54207A>G (p.Pro18069=) rs372686070 0.00030
NM_001267550.2(TTN):c.66673G>A (p.Asp22225Asn) rs72646870 0.00030
NM_001267550.2(TTN):c.80263T>C (p.Phe26755Leu) rs200181804 0.00030
NM_001267550.2(TTN):c.80271C>T (p.Val26757=) rs199875474 0.00030
NM_001267550.2(TTN):c.94863C>T (p.His31621=) rs373871146 0.00030
NM_001267550.2(TTN):c.97099C>T (p.Arg32367Cys) rs202064385 0.00030
NM_002471.4(MYH6):c.292G>A (p.Glu98Lys) rs140596256 0.00030
NM_002471.4(MYH6):c.4611G>A (p.Val1537=) rs142983918 0.00030
NM_003280.3(TNNC1):c.108C>A (p.Ile36=) rs202000367 0.00030
NM_004333.6(BRAF):c.2235A>G (p.Leu745=) rs56046546 0.00030
NM_006005.3(WFS1):c.1371G>T (p.Arg457Ser) rs113446173 0.00030
NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met) rs145387010 0.00030
NM_015340.4(LARS2):c.1622+8G>A rs202009605 0.00030
NM_022124.6(CDH23):c.2171G>A (p.Arg724His) rs374955091 0.00030
NM_030662.4(MAP2K2):c.303+12G>A rs376432107 0.00030
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu) rs141204958 0.00029
NM_000138.5(FBN1):c.2175T>C (p.Asn725=) rs140606 0.00029
NM_000138.5(FBN1):c.3058A>G (p.Thr1020Ala) rs111801777 0.00029
NM_000138.5(FBN1):c.4750G>A (p.Glu1584Lys) rs148888513 0.00029
NM_000260.4(MYO7A):c.2218C>T (p.Arg740Trp) rs201234369 0.00029
NM_000260.4(MYO7A):c.2293C>A (p.Leu765Met) rs201203036 0.00029
NM_000260.4(MYO7A):c.2798G>A (p.Arg933His) rs201489714 0.00029
NM_000260.4(MYO7A):c.6165C>T (p.Ser2055=) rs397516327 0.00029
NM_000321.3(RB1):c.929G>A (p.Gly310Glu) rs200844292 0.00029
NM_000335.5(SCN5A):c.3010T>C (p.Cys1004Arg) rs199473183 0.00029
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu) rs75820036 0.00029
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala) rs143139258 0.00029
NM_001018005.2(TPM1):c.375-5T>C rs377061868 0.00029
NM_001018005.2(TPM1):c.563+313A>G rs144700226 0.00029
NM_001035.3(RYR2):c.649A>G (p.Ile217Val) rs200642525 0.00029
NM_001038.6(SCNN1A):c.1216C>A (p.Leu406Ile) rs149484264 0.00029
NM_001040151.2(SCN3B):c.328G>A (p.Val110Ile) rs147205617 0.00029
NM_001042492.3(NF1):c.1976G>A (p.Arg659Gln) rs151138158 0.00029
NM_001145809.2(MYH14):c.5599C>T (p.Arg1867Cys) rs187789045 0.00029
NM_001243133.2(NLRP3):c.404G>A (p.Arg135His) rs138946894 0.00029
NM_001267550.2(TTN):c.102190G>A (p.Ala34064Thr) rs200237973 0.00029
NM_001267550.2(TTN):c.2686G>A (p.Val896Ile) rs376768790 0.00029
NM_001267550.2(TTN):c.27498G>A (p.Ser9166=) rs372528823 0.00029
NM_001267550.2(TTN):c.30485C>T (p.Thr10162Met) rs200593368 0.00029
NM_001267550.2(TTN):c.4645+8G>T rs144456585 0.00029
NM_001267550.2(TTN):c.73604C>A (p.Ser24535Tyr) rs201804005 0.00029
NM_001267550.2(TTN):c.75504T>G (p.Ser25168Arg) rs375204371 0.00029
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp) rs138060032 0.00029
NM_001267550.2(TTN):c.88720C>T (p.Arg29574Cys) rs200513274 0.00029
NM_001376256.1(CRYM):c.108C>A (p.Ser36Arg) rs147233841 0.00029
NM_001384474.1(LOXHD1):c.5400-3C>T rs528236655 0.00029
NM_001614.5(ACTG1):c.126C>T (p.Gly42=) rs11549197 0.00029
NM_002230.4(JUP):c.459C>T (p.Asp153=) rs376289528 0.00029
NM_002471.4(MYH6):c.4293G>A (p.Met1431Ile) rs201016285 0.00029
NM_002471.4(MYH6):c.831G>T (p.Gln277His) rs140660481 0.00029
NM_002755.4(MAP2K1):c.848C>T (p.Ala283Val) rs144080051 0.00029
NM_002834.5(PTPN11):c.48A>G (p.Ala16=) rs372736227 0.00029
NM_002880.4(RAF1):c.212A>G (p.Asn71Ser) rs184022679 0.00029
NM_005422.4(TECTA):c.3743C>T (p.Pro1248Leu) rs138768918 0.00029
NM_006005.3(WFS1):c.1024G>A (p.Ala342Thr) rs148028521 0.00029
NM_006005.3(WFS1):c.1265C>T (p.Ala422Val) rs150368988 0.00029
NM_006005.3(WFS1):c.325C>T (p.His109Tyr) rs112871383 0.00029
NM_007078.3(LDB3):c.1035C>T (p.Ile345=) rs121908336 0.00029
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His) rs56012641 0.00029
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033 0.00029
NM_014000.3(VCL):c.366G>A (p.Leu122=) rs199562976 0.00029
NM_014239.4(EIF2B2):c.599G>T (p.Gly200Val) rs113994012 0.00029
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp) rs119103267 0.00029
NM_015340.4(LARS2):c.1178C>A (p.Ala393Asp) rs138121304 0.00029
NM_016239.4(MYO15A):c.10121G>A (p.Arg3374His) rs201794696 0.00029
NM_017780.4(CHD7):c.8672A>G (p.Asn2891Ser) rs202039728 0.00029
NM_017950.4(CCDC40):c.248del (p.Ala83fs) rs397515393 0.00029
NM_020297.4(ABCC9):c.1557G>A (p.Glu519=) rs143346402 0.00029
NM_020297.4(ABCC9):c.2262T>C (p.Tyr754=) rs145561881 0.00029
NM_020297.4(ABCC9):c.305T>C (p.Leu102Pro) rs374659816 0.00029
NM_022124.6(CDH23):c.1814C>T (p.Ala605Val) rs201475055 0.00029
NM_030662.4(MAP2K2):c.525C>T (p.Ile175=) rs150833333 0.00029
NM_032119.4(ADGRV1):c.14466G>A (p.Val4822=) rs117641264 0.00029
NM_032119.4(ADGRV1):c.7569A>G (p.Thr2523=) rs373352597 0.00029
NM_080680.3(COL11A2):c.1875C>T (p.Gly625=) rs141815296 0.00029
NM_133379.5(TTN):c.13123G>T (p.Ala4375Ser) rs72647902 0.00029
NM_133379.5(TTN):c.13364A>G (p.Lys4455Arg) rs142304137 0.00029
NM_144573.4(NEXN):c.1788T>G (p.Ser596Arg) rs199738750 0.00029
NM_170707.4(LMNA):c.1584G>A (p.Thr528=) rs80356812 0.00029
NM_206933.4(USH2A):c.15364T>C (p.Cys5122Arg) rs111033402 0.00029
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala) rs28940279 0.00028
NM_000238.4(KCNH2):c.2707G>A (p.Gly903Arg) rs199473669 0.00028
NM_000256.3(MYBPC3):c.1602G>A (p.Ala534=) rs370945942 0.00028
NM_000260.4(MYO7A):c.2181T>C (p.Phe727=) rs373656667 0.00028
NM_000260.4(MYO7A):c.5495G>A (p.Arg1832Gln) rs372768607 0.00028
NM_001035.3(RYR2):c.10231-5C>T rs186326951 0.00028
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys) rs571985775 0.00028
NM_001039141.3(TRIOBP):c.483G>A (p.Glu161=) rs368119524 0.00028
NM_001039876.3(SYNE4):c.638C>T (p.Thr213Met) rs199916743 0.00028
NM_001105206.3(LAMA4):c.4436G>A (p.Arg1479His) rs140346737 0.00028
NM_001134363.3(RBM20):c.3115C>T (p.Pro1039Ser) rs727503392 0.00028
NM_001199799.2(ILDR1):c.1159T>C (p.Ser387Pro) rs150250182 0.00028
NM_001232.4(CASQ2):c.861C>A (p.Ile287=) rs143718767 0.00028
NM_001267550.2(TTN):c.17543G>A (p.Gly5848Glu) rs185962498 0.00028
NM_001267550.2(TTN):c.21993T>C (p.Pro7331=) rs373223049 0.00028
NM_001267550.2(TTN):c.28463-14G>A rs200917885 0.00028
NM_001267550.2(TTN):c.28507G>A (p.Val9503Ile) rs202160275 0.00028
NM_001267550.2(TTN):c.40903G>A (p.Ala13635Thr) rs191699632 0.00028
NM_001267550.2(TTN):c.4359A>T (p.Arg1453Ser) rs376857956 0.00028
NM_001267550.2(TTN):c.45273C>T (p.Asn15091=) rs72677223 0.00028
NM_001267550.2(TTN):c.62572A>G (p.Thr20858Ala) rs200689750 0.00028
NM_001267550.2(TTN):c.65729T>C (p.Ile21910Thr) rs146941600 0.00028
NM_001267550.2(TTN):c.75762G>T (p.Val25254=) rs374003257 0.00028
NM_001267550.2(TTN):c.99162G>A (p.Lys33054=) rs368686031 0.00028
NM_001384474.1(LOXHD1):c.4824C>G (p.Val1608=) rs114557260 0.00028
NM_001386795.1(DTNA):c.2108G>A (p.Arg703Gln) rs142009291 0.00028
NM_002294.3(LAMP2):c.-10C>T rs201209341 0.00028
NM_002471.4(MYH6):c.2401A>G (p.Ile801Val) rs75487328 0.00028
NM_004281.4(BAG3):c.771C>T (p.Pro257=) rs200212999 0.00028
NM_005422.4(TECTA):c.3103G>A (p.Glu1035Lys) rs150512674 0.00028
NM_006005.3(WFS1):c.1760G>A (p.Arg587Gln) rs71539657 0.00028
NM_006005.3(WFS1):c.41A>G (p.Gln14Arg) rs142651446 0.00028
NM_016239.4(MYO15A):c.4096G>A (p.Asp1366Asn) rs368603235 0.00028
NM_022124.6(CDH23):c.8859C>T (p.Asp2953=) rs11000008 0.00028
NM_022124.6(CDH23):c.8886C>T (p.Asn2962=) rs376881824 0.00028
NM_033380.3(COL4A5):c.4353A>T (p.Gly1451=) rs146884759 0.00028
NM_144498.4(OSBPL2):c.1250-3del rs781009740 0.00028
NM_144573.4(NEXN):c.242A>T (p.Asp81Val) rs367871780 0.00028
NM_206933.4(USH2A):c.9307A>G (p.Ile3103Val) rs143352618 0.00028
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210 0.00027
NM_000260.4(MYO7A):c.758A>G (p.His253Arg) rs375200566 0.00027
NM_001103.4(ACTN2):c.1484C>T (p.Thr495Met) rs200248944 0.00027
NM_001105206.3(LAMA4):c.1614G>A (p.Ala538=) rs143587921 0.00027
NM_001145809.2(MYH14):c.820A>G (p.Ile274Val) rs200424400 0.00027
NM_001267550.2(TTN):c.33172+4G>A rs756475184 0.00027
NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala) rs34706299 0.00027
NM_001267550.2(TTN):c.4262G>A (p.Arg1421Gln) rs147254212 0.00027
NM_001267550.2(TTN):c.61409T>C (p.Ile20470Thr) rs202012910 0.00027
NM_001267550.2(TTN):c.66430G>A (p.Ala22144Thr) rs183276016 0.00027
NM_001267550.2(TTN):c.67833C>T (p.Tyr22611=) rs375538420 0.00027
NM_001267550.2(TTN):c.82402A>C (p.Lys27468Gln) rs201958805 0.00027
NM_001384474.1(LOXHD1):c.4031G>T (p.Cys1344Phe) rs368870055 0.00027
NM_002471.4(MYH6):c.3199A>G (p.Ser1067Gly) rs145508517 0.00027
NM_002834.3(PTPN11):c.*13A>G rs201957261 0.00027
NM_022124.6(CDH23):c.3895G>A (p.Val1299Ile) rs201610096 0.00027
NM_022124.6(CDH23):c.5831T>C (p.Leu1944Ser) rs201876362 0.00027
NM_032119.4(ADGRV1):c.13358A>G (p.His4453Arg) rs200212083 0.00027
NM_139319.3(SLC17A8):c.310G>A (p.Val104Ile) rs373954823 0.00027
NM_144672.4(OTOA):c.921G>A (p.Ala307=) rs12051473 0.00027
NM_144991.3(TSPEAR):c.589C>T (p.Arg197Ter) rs139455627 0.00027
NM_194248.3(OTOF):c.3939G>A (p.Ala1313=) rs149566576 0.00027
NM_206933.4(USH2A):c.8357T>C (p.Phe2786Ser) rs111033262 0.00027
NM_000059.4(BRCA2):c.9292T>C (p.Tyr3098His) rs41293521 0.00026
NM_000117.3(EMD):c.646G>A (p.Gly216Arg) rs147920229 0.00026
NM_000179.3(MSH6):c.4002-10T>A rs545466048 0.00026
NM_000256.3(MYBPC3):c.1721G>A (p.Arg574Gln) rs397515922 0.00026
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser) rs200513014 0.00026
NM_001103.4(ACTN2):c.1406+8C>T rs397516567 0.00026
NM_001103.4(ACTN2):c.2161C>A (p.Arg721Ser) rs149433837 0.00026
NM_001128840.3(CACNA1D):c.2552T>G (p.Leu851Trp) rs186968009 0.00026
NM_001199107.2(TBC1D24):c.1038C>T (p.Ser346=) rs377697825 0.00026
NM_001267550.2(TTN):c.101925A>G (p.Leu33975=) rs201246720 0.00026
NM_001267550.2(TTN):c.107671G>A (p.Gly35891Ser) rs201298767 0.00026
NM_001267550.2(TTN):c.14535C>T (p.Asp4845=) rs184307461 0.00026
NM_001267550.2(TTN):c.26849A>G (p.Tyr8950Cys) rs199557654 0.00026
NM_001267550.2(TTN):c.34845C>T (p.Pro11615=) rs368781863 0.00026
NM_001267550.2(TTN):c.3605T>C (p.Val1202Ala) rs150667217 0.00026
NM_001267550.2(TTN):c.46387G>A (p.Gly15463Arg) rs200042932 0.00026
NM_001267550.2(TTN):c.46451G>A (p.Arg15484Lys) rs72677229 0.00026
NM_001267550.2(TTN):c.47513G>A (p.Arg15838Gln) rs199640194 0.00026
NM_001267550.2(TTN):c.50719A>G (p.Ile16907Val) rs750610895 0.00026
NM_001267550.2(TTN):c.52004G>A (p.Arg17335His) rs367603302 0.00026
NM_001267550.2(TTN):c.57263-4C>T rs373552048 0.00026
NM_001267550.2(TTN):c.65534C>T (p.Pro21845Leu) rs201662134 0.00026
NM_001267550.2(TTN):c.69864A>G (p.Ile23288Met) rs368867993 0.00026
NM_001267550.2(TTN):c.70492G>A (p.Gly23498Ser) rs370771532 0.00026
NM_001267550.2(TTN):c.74844G>A (p.Lys24948=) rs371884545 0.00026
NM_001267550.2(TTN):c.79941A>G (p.Gln26647=) rs72648208 0.00026
NM_001267550.2(TTN):c.91425C>T (p.Asp30475=) rs145133144 0.00026
NM_001267550.2(TTN):c.92042C>A (p.Ala30681Asp) rs201400267 0.00026
NM_001267550.2(TTN):c.97257T>C (p.Ile32419=) rs373206096 0.00026
NM_001267550.2(TTN):c.98892C>T (p.Pro32964=) rs374081262 0.00026
NM_001384140.1(PCDH15):c.3724G>A (p.Val1242Met) rs201137087 0.00026
NM_001384474.1(LOXHD1):c.1313A>G (p.Lys438Arg) rs186138859 0.00026
NM_002230.4(JUP):c.486G>A (p.Ala162=) rs113317262 0.00026
NM_002294.3(LAMP2):c.1142T>C (p.Val381Ala) rs139633545 0.00026
NM_002834.5(PTPN11):c.333-3T>C rs146749153 0.00026
NM_002834.5(PTPN11):c.925A>G (p.Ile309Val) rs201787206 0.00026
NM_003001.5(SDHC):c.405+23C>T rs373731336 0.00026
NM_004006.3(DMD):c.1252A>T (p.Thr418Ser) rs201341211 0.00026
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr) rs148147581 0.00026
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln) rs116888866 0.00026
NM_004612.4(TGFBR1):c.528G>A (p.Thr176=) rs190878719 0.00026
NM_004999.4(MYO6):c.475G>A (p.Glu159Lys) rs201507590 0.00026
NM_005228.5(EGFR):c.2543C>T (p.Pro848Leu) rs148934350 0.00026
NM_005422.4(TECTA):c.327C>T (p.Gly109=) rs727504830 0.00026
NM_005422.4(TECTA):c.4315C>A (p.Leu1439Ile) rs202199158 0.00026
NM_006941.4(SOX10):c.428+10C>G rs201638602 0.00026
NM_007078.3(LDB3):c.1051A>G (p.Thr351Ala) rs138251566 0.00026
NM_007078.3(LDB3):c.2092G>A (p.Ala698Thr) rs45577134 0.00026
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675 0.00026
NM_013314.4(BLNK):c.115C>T (p.Leu39=) rs34135972 0.00026
NM_016239.4(MYO15A):c.10394G>A (p.Arg3465Gln) rs199783506 0.00026
NM_016239.4(MYO15A):c.9620G>A (p.Arg3207His) rs199621031 0.00026
NM_017433.5(MYO3A):c.2705A>C (p.Asn902Thr) rs142823078 0.00026
NM_017433.5(MYO3A):c.4045G>C (p.Ala1349Pro) rs149521185 0.00026
NM_017780.4(CHD7):c.6353A>G (p.Asn2118Ser) rs199614124 0.00026
NM_022124.6(CDH23):c.1637G>A (p.Arg546Gln) rs199508694 0.00026
NM_022124.6(CDH23):c.3213G>A (p.Glu1071=) rs140255091 0.00026
NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr) rs144688588 0.00026
NM_030662.4(MAP2K2):c.678C>T (p.Ser226=) rs200874968 0.00026
NM_032119.4(ADGRV1):c.3741G>A (p.Glu1247=) rs371571867 0.00026
NM_032119.4(ADGRV1):c.6242C>G (p.Ser2081Cys) rs201210744 0.00026
NM_080680.3(COL11A2):c.230C>A (p.Pro77Gln) rs35765893 0.00026
NM_080680.3(COL11A2):c.2757C>T (p.Gly919=) rs34478777 0.00026
NM_080680.3(COL11A2):c.5071-5T>G rs368309085 0.00026
NM_144672.4(OTOA):c.739+11A>G rs186092865 0.00026
NM_147196.3(TMIE):c.191C>T (p.Ser64Leu) rs189895472 0.00026
NM_152594.3(SPRED1):c.377-10A>G rs376134678 0.00026
NM_181458.4(PAX3):c.126C>A (p.Gly42=) rs369680052 0.00026
NM_194248.3(OTOF):c.154G>A (p.Val52Met) rs199992845 0.00026
NM_201596.3(CACNB2):c.1357C>T (p.Leu453Phe) rs145638628 0.00026
NM_206933.4(USH2A):c.11597C>T (p.Ala3866Val) rs138326802 0.00026
NM_206933.4(USH2A):c.13396C>T (p.Pro4466Ser) rs138398671 0.00026
NM_206933.4(USH2A):c.14069A>G (p.Tyr4690Cys) rs150280500 0.00026
NM_206933.4(USH2A):c.6001C>T (p.Arg2001Cys) rs141539554 0.00026
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701 0.00025
NM_000256.3(MYBPC3):c.2873C>T (p.Thr958Ile) rs376504548 0.00025
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met) rs200119454 0.00025
NM_000432.4(MYL2):c.275-14G>C rs375703502 0.00025
NM_001035.3(RYR2):c.6689-12T>C rs370972311 0.00025
NM_001039213.4(CEACAM16):c.116T>A (p.Leu39Gln) rs375722926 0.00025
NM_001103.4(ACTN2):c.1235C>T (p.Thr412Met) rs139515659 0.00025
NM_001128840.3(CACNA1D):c.4977G>A (p.Ser1659=) rs150463212 0.00025
NM_001134363.3(RBM20):c.850G>A (p.Gly284Arg) rs201148126 0.00025
NM_001267550.2(TTN):c.100389C>T (p.Tyr33463=) rs368984050 0.00025
NM_001267550.2(TTN):c.26672A>G (p.Asn8891Ser) rs146057575 0.00025
NM_001267550.2(TTN):c.39690G>A (p.Ala13230=) rs528832388 0.00025
NM_001267550.2(TTN):c.46928A>G (p.His15643Arg) rs368502650 0.00025
NM_001267550.2(TTN):c.5697C>T (p.Ile1899=) rs148434577 0.00025
NM_001267550.2(TTN):c.84923A>C (p.Gln28308Pro) rs201674674 0.00025
NM_001292063.2(OTOG):c.1840C>T (p.Arg614Trp) rs201183725 0.00025
NM_001918.5(DBT):c.901C>T (p.Arg301Cys) rs185492864 0.00025
NM_002473.6(MYH9):c.4225G>A (p.Asp1409Asn) rs34292387 0.00025
NM_002755.4(MAP2K1):c.6C>T (p.Pro2=) rs377720622 0.00025
NM_002880.4(RAF1):c.909A>C (p.Thr303=) rs5746219 0.00025
NM_004329.3(BMPR1A):c.1433G>A (p.Arg478His) rs113849804 0.00025
NM_004333.6(BRAF):c.64G>A (p.Asp22Asn) rs397507456 0.00025
NM_004985.5(KRAS):c.24A>G (p.Val8=) rs147406419 0.00025
NM_007078.3(LDB3):c.1971C>T (p.Cys657=) rs140552419 0.00025
NM_014000.3(VCL):c.1294C>G (p.Leu432Val) rs144146254 0.00025
NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn) rs199589947 0.00025
NM_016203.4(PRKAG2):c.325T>G (p.Ser109Ala) rs139579816 0.00025
NM_016929.5(CLIC5):c.491C>G (p.Thr164Ser) rs201781198 0.00025
NM_022124.6(CDH23):c.4892C>T (p.Ala1631Val) rs370762269 0.00025
NM_022124.6(CDH23):c.6026T>A (p.Leu2009His) rs201067092 0.00025
NM_022124.6(CDH23):c.6489G>C (p.Leu2163=) rs111033493 0.00025
NM_022124.6(CDH23):c.9438G>A (p.Ala3146=) rs200572025 0.00025
NM_024422.6(DSC2):c.1729A>G (p.Ile577Val) rs201845641 0.00025
NM_032119.4(ADGRV1):c.7468G>A (p.Ala2490Thr) rs143632883 0.00025
NM_032119.4(ADGRV1):c.7873C>T (p.Arg2625Cys) rs201583659 0.00025
NM_133379.5(TTN):c.11283G>C (p.Lys3761Asn) rs200816462 0.00025
NM_133379.5(TTN):c.12716C>T (p.Ala4239Val) rs72647901 0.00025
NM_170707.4(LMNA):c.1634G>A (p.Arg545His) rs142191737 0.00025
NM_000091.5(COL4A3):c.4510T>C (p.Phe1504Leu) rs201671013 0.00024
NM_000256.3(MYBPC3):c.184A>C (p.Thr62Pro) rs377225516 0.00024
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101 0.00024
NM_000260.4(MYO7A):c.2527G>A (p.Val843Met) rs140559111 0.00024
NM_000335.5(SCN5A):c.1340C>G (p.Ala447Gly) rs199473113 0.00024
NM_000384.3(APOB):c.8550T>G (p.Ile2850Met) rs148498577 0.00024
NM_001039876.3(SYNE4):c.625G>A (p.Glu209Lys) rs149470089 0.00024
NM_001103.4(ACTN2):c.2147C>T (p.Thr716Met) rs193922635 0.00024
NM_001134363.3(RBM20):c.2452G>T (p.Ala818Ser) rs200271618 0.00024
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00024
NM_001199107.2(TBC1D24):c.22T>C (p.Cys8Arg) rs77585883 0.00024
NM_001267550.2(TTN):c.1050C>T (p.Tyr350=) rs375448572 0.00024
NM_001267550.2(TTN):c.15552C>T (p.Thr5184=) rs146353237 0.00024
NM_001267550.2(TTN):c.33732G>A (p.Pro11244=) rs190604150 0.00024
NM_001267550.2(TTN):c.59113C>T (p.Arg19705Cys) rs72646839 0.00024
NM_001267550.2(TTN):c.64811G>A (p.Arg21604Gln) rs188996850 0.00024
NM_001267550.2(TTN):c.68082C>T (p.Cys22694=) rs79406408 0.00024
NM_001267550.2(TTN):c.70056A>G (p.Arg23352=) rs75948012 0.00024
NM_001267550.2(TTN):c.86117G>A (p.Arg28706Gln) rs199788826 0.00024
NM_001267550.2(TTN):c.88972A>G (p.Ile29658Val) rs200193877 0.00024
NM_001267550.2(TTN):c.90624T>C (p.Asn30208=) rs370479059 0.00024
NM_001267550.2(TTN):c.91173A>C (p.Glu30391Asp) rs199505541 0.00024
NM_001378609.3(OTOGL):c.2345C>T (p.Pro782Leu) rs200797401 0.00024
NM_001384474.1(LOXHD1):c.2580G>A (p.Ala860=) rs118140267 0.00024
NM_002294.3(LAMP2):c.741+11C>T rs149155417 0.00024
NM_002755.4(MAP2K1):c.237C>T (p.Gly79=) rs148656020 0.00024
NM_002769.5(PRSS1):c.623G>C (p.Gly208Ala) rs189270875 0.00024
NM_003803.4(MYOM1):c.3548G>A (p.Arg1183Gln) rs147050513 0.00024
NM_004281.4(BAG3):c.1240G>A (p.Glu414Lys) rs117749531 0.00024
NM_004817.4(TJP2):c.3190G>T (p.Val1064Leu) rs199892018 0.00024
NM_005379.4(MYO1A):c.1667C>T (p.Ser556Phe) rs571906190 0.00024
NM_005422.4(TECTA):c.1461A>G (p.Gly487=) rs202127508 0.00024
NM_005422.4(TECTA):c.4633G>A (p.Val1545Ile) rs377156351 0.00024
NM_006231.4(POLE):c.2683G>A (p.Ala895Thr) rs201115064 0.00024
NM_006383.4(CIB2):c.556C>T (p.Arg186Trp) rs370359511 0.00024
NM_015404.4(WHRN):c.1608C>G (p.Thr536=) rs139337135 0.00024
NM_016239.4(MYO15A):c.10076C>T (p.Pro3359Leu) rs201763265 0.00024
NM_016239.4(MYO15A):c.10181C>T (p.Ala3394Val) rs200249886 0.00024
NM_016239.4(MYO15A):c.4142+6T>C rs368090576 0.00024
NM_016599.5(MYOZ2):c.39G>A (p.Gln13=) rs145688699 0.00024
NM_020975.6(RET):c.785T>C (p.Val262Ala) rs139790943 0.00024
NM_024334.3(TMEM43):c.1111T>C (p.Tyr371His) rs116911972 0.00024
NM_024334.3(TMEM43):c.564C>T (p.Gly188=) rs143124744 0.00024
NM_024422.6(DSC2):c.857G>T (p.Gly286Val) rs199682735 0.00024
NM_030662.4(MAP2K2):c.1194C>T (p.Thr398=) rs144850779 0.00024
NM_033380.3(COL4A5):c.2979T>G (p.Pro993=) rs41306255 0.00024
NM_080680.3(COL11A2):c.1819-10G>A rs3129202 0.00024
NM_133379.5(TTN):c.15302A>G (p.Glu5101Gly) rs142973956 0.00024
NM_178335.3(CCDC50):c.1144G>A (p.Ala382Thr) rs143628723 0.00024
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561 0.00023
NM_000138.5(FBN1):c.6314-15G>A rs200841830 0.00023
NM_000179.3(MSH6):c.73G>T (p.Ala25Ser) rs267608026 0.00023
NM_000260.4(MYO7A):c.1288C>T (p.Arg430Cys) rs201839693 0.00023
NM_000260.4(MYO7A):c.3038C>T (p.Thr1013Ile) rs369539923 0.00023
NM_000260.4(MYO7A):c.514C>T (p.Leu172=) rs368246776 0.00023
NM_001005242.3(PKP2):c.1379-2025G>A rs537458442 0.00023
NM_001038603.3(MARVELD2):c.30G>A (p.Arg10=) rs143592561 0.00023
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln) rs149866955 0.00023
NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln) rs199632397 0.00023
NM_001267550.2(TTN):c.25066C>T (p.Arg8356Cys) rs201810836 0.00023
NM_001267550.2(TTN):c.51678C>T (p.Asn17226=) rs372635204 0.00023
NM_001267550.2(TTN):c.59344+3G>A rs142095604 0.00023
NM_001267550.2(TTN):c.94553T>C (p.Val31518Ala) rs377016580 0.00023
NM_001267550.2(TTN):c.98726T>C (p.Val32909Ala) rs368877793 0.00023
NM_001292063.2(OTOG):c.2350A>C (p.Thr784Pro) rs778687487 0.00023
NM_001614.5(ACTG1):c.546C>T (p.Gly182=) rs61997063 0.00023
NM_001692.4(ATP6V1B1):c.77T>C (p.Met26Thr) rs527738649 0.00023
NM_002230.4(JUP):c.546G>A (p.Ser182=) rs202038498 0.00023
NM_004415.4(DSP):c.2794-4dup rs397516924 0.00023
NM_005219.5(DIAPH1):c.685-5A>G rs367786290 0.00023
NM_006005.3(WFS1):c.2250C>T (p.Ala750=) rs369498603 0.00023
NM_006231.4(POLE):c.691C>T (p.Arg231Cys) rs146592584 0.00023
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys) rs28897676 0.00023
NM_014391.3(ANKRD1):c.652-10A>T rs397517252 0.00023
NM_015340.4(LARS2):c.338G>A (p.Arg113Gln) rs138437422 0.00023
NM_016203.4(PRKAG2):c.1585-4G>A rs373649956 0.00023
NM_016239.4(MYO15A):c.3591G>A (p.Pro1197=) rs200222411 0.00023
NM_020297.4(ABCC9):c.3729G>A (p.Ser1243=) rs140182559 0.00023
NM_022124.6(CDH23):c.1595C>T (p.Thr532Met) rs201297042 0.00023
NM_022124.6(CDH23):c.2572G>A (p.Val858Ile) rs181275139 0.00023
NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg) rs147109895 0.00023
NM_033118.4(MYLK2):c.1308C>T (p.Asn436=) rs369603764 0.00023
NM_144573.4(NEXN):c.1029G>A (p.Ala343=) rs374260457 0.00023
NM_206933.4(USH2A):c.5039A>G (p.Lys1680Arg) rs150982499 0.00023
NM_206933.4(USH2A):c.6233C>G (p.Pro2078Arg) rs150230450 0.00023
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755 0.00022
NM_000091.5(COL4A3):c.4523A>G (p.Asn1508Ser) rs200512461 0.00022
NM_000249.4(MLH1):c.2066A>G (p.Gln689Arg) rs63750702 0.00022
NM_000432.4(MYL2):c.353+12C>A rs186323458 0.00022
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys) rs139438201 0.00022
NM_001005242.3(PKP2):c.302G>A (p.Arg101His) rs149542398 0.00022
NM_001039876.3(SYNE4):c.764T>C (p.Ile255Thr) rs199853331 0.00022
NM_001105206.3(LAMA4):c.456T>A (p.Ala152=) rs149106800 0.00022
NM_001267550.2(TTN):c.10188A>G (p.Glu3396=) rs183336802 0.00022
NM_001267550.2(TTN):c.107377+14C>T rs367908657 0.00022
NM_001267550.2(TTN):c.12234C>G (p.Thr4078=) rs192857526 0.00022
NM_001267550.2(TTN):c.19016A>G (p.Tyr6339Cys) rs192553687 0.00022
NM_001267550.2(TTN):c.21721G>A (p.Val7241Ile) rs367854582 0.00022
NM_001267550.2(TTN):c.99991T>C (p.Cys33331Arg) rs56061641 0.00022
NM_001286445.3(RIPOR2):c.1130C>T (p.Pro377Leu) rs201901775 0.00022
NM_001354604.2(MITF):c.1412A>T (p.Tyr471Phe) rs145325518 0.00022
NM_001366385.1(CARD14):c.205C>T (p.Arg69Trp) rs375624435 0.00022
NM_001371333.1(DIABLO):c.-11C>T rs376530914 0.00022
NM_001378454.1(ALMS1):c.3689G>A (p.Gly1230Glu) rs372619046 0.00022
NM_001379180.1(ESRRB):c.952G>A (p.Asp318Asn) rs201344770 0.00022
NM_002230.4(JUP):c.2207C>T (p.Pro736Leu) rs151178348 0.00022
NM_002471.4(MYH6):c.2614C>T (p.Arg872Cys) rs201193346 0.00022
NM_002471.4(MYH6):c.4137G>A (p.Thr1379=) rs372158844 0.00022
NM_002471.4(MYH6):c.4505G>A (p.Arg1502Gln) rs199936506 0.00022
NM_002473.6(MYH9):c.2061C>T (p.Leu687=) rs143801000 0.00022
NM_004086.3(COCH):c.22G>A (p.Ala8Thr) rs200935305 0.00022
NM_004612.4(TGFBR1):c.415A>G (p.Ile139Val) rs148176750 0.00022
NM_005159.5(ACTC1):c.513C>T (p.Tyr171=) rs145023222 0.00022
NM_005422.4(TECTA):c.2827C>A (p.Leu943Met) rs139158022 0.00022
NM_005422.4(TECTA):c.2886C>T (p.Ser962=) rs138065050 0.00022
NM_006005.3(WFS1):c.1792G>A (p.Ala598Thr) rs140125843 0.00022
NM_006005.3(WFS1):c.1957C>T (p.Arg653Cys) rs201064551 0.00022
NM_006393.3(NEBL):c.1449+14G>A rs373699154 0.00022
NM_015340.4(LARS2):c.1947C>A (p.Asp649Glu) rs143155251 0.00022
NM_017668.3(NDE1):c.948-3127C>T rs181115969 0.00022
NM_022124.6(CDH23):c.8407G>A (p.Val2803Ile) rs369697366 0.00022
NM_024426.6(WT1):c.760C>T (p.Pro254Ser) rs2234584 0.00022
NM_032119.4(ADGRV1):c.6443C>T (p.Ala2148Val) rs375921325 0.00022
NM_033409.4(SLC52A3):c.395G>A (p.Arg132Gln) rs142157418 0.00022
NM_133379.5(TTN):c.12550G>T (p.Gly4184Cys) rs145460295 0.00022
NM_144672.4(OTOA):c.2019C>T (p.Asp673=) rs147901051 0.00022
NM_170682.4(P2RX2):c.381+2T>C rs200978001 0.00022
NM_201596.3(CACNB2):c.380C>T (p.Ala127Val) rs200367454 0.00022
NM_206933.4(USH2A):c.10564A>G (p.Arg3522Gly) rs147374057 0.00022
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755 0.00021
NM_000092.5(COL4A4):c.2144C>T (p.Ala715Val) rs76636743 0.00021
NM_000256.3(MYBPC3):c.2728C>A (p.Pro910Thr) rs397515985 0.00021
NM_000256.3(MYBPC3):c.74G>A (p.Ser25Asn) rs371140684 0.00021
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) rs186964570 0.00021
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987 0.00021
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val) rs199897298 0.00021
NM_000260.4(MYO7A):c.6247G>A (p.Ala2083Thr) rs41298759 0.00021
NM_000335.5(SCN5A):c.3375A>G (p.Pro1125=) rs372328054 0.00021
NM_000384.3(APOB):c.10708C>T (p.His3570Tyr) rs201736972 0.00021
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met) rs150326995 0.00021
NM_000441.2(SLC26A4):c.1544+9C>T rs368970459 0.00021
NM_001018005.2(TPM1):c.797A>G (p.Lys266Arg) rs371934474 0.00021
NM_001035.3(RYR2):c.1005+13A>G rs552027921 0.00021
NM_001039141.3(TRIOBP):c.6007G>A (p.Gly2003Ser) rs397516554 0.00021
NM_001039876.3(SYNE4):c.1127C>T (p.Ala376Val) rs199938988 0.00021
NM_001039876.3(SYNE4):c.962G>A (p.Arg321Gln) rs150043310 0.00021
NM_001267550.2(TTN):c.12195T>C (p.Leu4065=) rs201129413 0.00021
NM_001267550.2(TTN):c.17116G>A (p.Glu5706Lys) rs376593556 0.00021
NM_001267550.2(TTN):c.18745G>A (p.Asp6249Asn) rs201263441 0.00021
NM_001267550.2(TTN):c.39301G>A (p.Glu13101Lys) rs201035457 0.00021
NM_001267550.2(TTN):c.55306G>A (p.Glu18436Lys) rs201510986 0.00021
NM_001267550.2(TTN):c.7060C>T (p.Arg2354Cys) rs145039979 0.00021
NM_001267550.2(TTN):c.71723G>A (p.Gly23908Asp) rs540161344 0.00021
NM_001267550.2(TTN):c.8589A>G (p.Glu2863=) rs72647883 0.00021
NM_001267550.2(TTN):c.88984G>A (p.Gly29662Ser) rs187460377 0.00021
NM_001267550.2(TTN):c.93803A>C (p.Lys31268Thr) rs200766837 0.00021
NM_001276345.2(TNNT2):c.200-11A>G rs368658464 0.00021
NM_001378609.3(OTOGL):c.5069C>T (p.Pro1690Leu) rs185895624 0.00021
NM_001384474.1(LOXHD1):c.1944C>T (p.Ser648=) rs369039902 0.00021
NM_001384474.1(LOXHD1):c.4611C>T (p.Cys1537=) rs189561302 0.00021
NM_001614.5(ACTG1):c.345C>T (p.Asn115=) rs149057480 0.00021
NM_001927.4(DES):c.736-8C>A rs140375681 0.00021
NM_003673.4(TCAP):c.458G>A (p.Arg153His) rs149585781 0.00021
NM_004100.5(EYA4):c.987G>T (p.Met329Ile) rs146144708 0.00021
NM_004415.4(DSP):c.2422C>T (p.Arg808Cys) rs150339369 0.00021
NM_004568.6(SERPINB6):c.430+3G>A rs201080069 0.00021
NM_004985.5(KRAS):c.264A>G (p.Lys88=) rs370920665 0.00021
NM_005422.4(TECTA):c.2945T>C (p.Leu982Pro) rs141616288 0.00021
NM_005422.4(TECTA):c.3317G>A (p.Gly1106Asp) rs144844263 0.00021
NM_006005.3(WFS1):c.1309G>A (p.Gly437Ser) rs147974629 0.00021
NM_006005.3(WFS1):c.1758C>T (p.Ala586=) rs145144527 0.00021
NM_006005.3(WFS1):c.2012C>T (p.Ala671Val) rs71530907 0.00021
NM_006393.3(NEBL):c.82-4A>G rs368268112 0.00021
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys) rs28897683 0.00021
NM_014000.3(VCL):c.1788A>C (p.Ser596=) rs199582103 0.00021
NM_016239.4(MYO15A):c.5055C>T (p.Ala1685=) rs201026034 0.00021
NM_016239.4(MYO15A):c.8768G>A (p.Arg2923Gln) rs761180573 0.00021
NM_017780.4(CHD7):c.6822T>C (p.Ala2274=) rs61743849 0.00021
NM_021167.5(GATAD1):c.276T>G (p.Ser92=) rs143082866 0.00021
NM_021167.5(GATAD1):c.48G>A (p.Ser16=) rs376686657 0.00021
NM_022124.6(CDH23):c.2236G>A (p.Val746Ile) rs550384315 0.00021
NM_022124.6(CDH23):c.2711C>T (p.Pro904Leu) rs199894395 0.00021
NM_022124.6(CDH23):c.551G>A (p.Arg184His) rs201132251 0.00021
NM_024334.3(TMEM43):c.1095G>A (p.Ala365=) rs141675061 0.00021
NM_024334.3(TMEM43):c.347G>A (p.Arg116Gln) rs143535006 0.00021
NM_024422.6(DSC2):c.348A>G (p.Gln116=) rs137941742 0.00021
NM_024422.6(DSC2):c.907G>A (p.Val303Met) rs145560678 0.00021
NM_032119.4(ADGRV1):c.12350G>A (p.Arg4117His) rs202067248 0.00021
NM_032119.4(ADGRV1):c.9054T>G (p.Phe3018Leu) rs186975400 0.00021
NM_032119.4(ADGRV1):c.9643G>A (p.Glu3215Lys) rs199499672 0.00021
NM_080680.3(COL11A2):c.4651C>T (p.Arg1551Trp) rs141254777 0.00021
NM_133379.5(TTN):c.16020T>C (p.His5340=) rs200378944 0.00021
NM_194248.3(OTOF):c.1424A>G (p.Glu475Gly) rs111033396 0.00021
NM_194248.3(OTOF):c.2252C>T (p.Thr751Met) rs727503359 0.00021
NM_206933.4(USH2A):c.4532C>T (p.Ala1511Val) rs201710470 0.00021
NM_206933.4(USH2A):c.5844T>C (p.Arg1948=) rs147930567 0.00021
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly) rs56403624 0.00020
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln) rs63750361 0.00020
NM_000256.3(MYBPC3):c.1813G>A (p.Asp605Asn) rs376736293 0.00020
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr) rs104894363 0.00020
NM_001039141.3(TRIOBP):c.4726C>T (p.Arg1576Cys) rs200113910 0.00020
NM_001042492.3(NF1):c.8499T>C (p.Asn2833=) rs142636150 0.00020
NM_001105206.3(LAMA4):c.4852C>T (p.Leu1618Phe) rs397516733 0.00020
NM_001134363.3(RBM20):c.773C>T (p.Ser258Leu) rs749285793 0.00020
NM_001267550.2(TTN):c.102520G>A (p.Val34174Ile) rs200430493 0.00020
NM_001267550.2(TTN):c.14697C>T (p.Ser4899=) rs372740215 0.00020
NM_001267550.2(TTN):c.21656C>T (p.Ser7219Phe) rs201029552 0.00020
NM_001267550.2(TTN):c.32767A>C (p.Lys10923Gln) rs367720439 0.00020
NM_001267550.2(TTN):c.58796C>T (p.Thr19599Ile) rs367816473 0.00020
NM_001267550.2(TTN):c.63352C>T (p.Arg21118Trp) rs200726948 0.00020
NM_001267550.2(TTN):c.69853G>A (p.Glu23285Lys) rs376870149 0.00020
NM_001267550.2(TTN):c.87623A>T (p.Tyr29208Phe) rs201831707 0.00020
NM_001384474.1(LOXHD1):c.977A>G (p.Asn326Ser) rs188528174 0.00020
NM_001692.4(ATP6V1B1):c.40G>A (p.Gly14Ser) rs111306070 0.00020
NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp) rs149322279 0.00020
NM_004006.3(DMD):c.7521C>T (p.Asn2507=) rs112516305 0.00020
NM_004415.4(DSP):c.8467C>G (p.Pro2823Ala) rs142717240 0.00020
NM_006393.3(NEBL):c.2417C>T (p.Thr806Ile) rs200705273 0.00020
NM_016239.4(MYO15A):c.8708G>A (p.Arg2903Gln) rs200781310 0.00020
NM_017433.5(MYO3A):c.4073G>A (p.Arg1358Gln) rs141903506 0.00020
NM_022124.6(CDH23):c.4391C>T (p.Ala1464Val) rs374362883 0.00020
NM_033056.4(PCDH15):c.5557A>C (p.Met1853Leu) rs145903555 0.00020
NM_033118.4(MYLK2):c.972+14G>A rs193922713 0.00020
NM_033337.3(CAV3):c.115-13G>C rs368367319 0.00020
NM_133379.5(TTN):c.14327T>C (p.Leu4776Ser) rs142132973 0.00020
NM_170682.4(P2RX2):c.1363G>A (p.Glu455Lys) rs199955493 0.00020
NM_174878.3(CLRN1):c.9C>A (p.Ser3Arg) rs187218889 0.00020
NM_181458.4(PAX3):c.540C>G (p.Ser180Arg) rs200679164 0.00020
NM_194248.3(OTOF):c.4552G>A (p.Ala1518Thr) rs145556189 0.00020
NM_206933.4(USH2A):c.10062G>C (p.Val3354=) rs200172376 0.00020
NM_206933.4(USH2A):c.6998T>C (p.Val2333Ala) rs144817385 0.00020
NM_206933.4(USH2A):c.7038C>T (p.His2346=) rs145718407 0.00020
NM_000092.5(COL4A4):c.4715C>T (p.Pro1572Leu) rs121912863 0.00019
NM_000138.5(FBN1):c.79G>A (p.Ala27Thr) rs25397 0.00019
NM_000179.3(MSH6):c.3961A>G (p.Arg1321Gly) rs41295278 0.00019
NM_000249.4(MLH1):c.394G>C (p.Asp132His) rs28930073 0.00019
NM_000251.3(MSH2):c.138C>G (p.His46Gln) rs33946261 0.00019
NM_000256.3(MYBPC3):c.3276C>T (p.Val1092=) rs376344765 0.00019
NM_000256.3(MYBPC3):c.3285G>A (p.Thr1095=) rs367927327 0.00019
NM_000256.3(MYBPC3):c.461T>C (p.Ile154Thr) rs373946195 0.00019
NM_000260.4(MYO7A):c.1126A>G (p.Ile376Val) rs368716988 0.00019
NM_000260.4(MYO7A):c.5172C>G (p.Pro1724=) rs727505004 0.00019
NM_000260.4(MYO7A):c.904C>T (p.Arg302Cys) rs781922871 0.00019
NM_000335.5(SCN5A):c.998+5G>A rs187531872 0.00019
NM_000337.6(SGCD):c.699+18C>G rs180898690 0.00019
NM_000337.6(SGCD):c.848A>G (p.Gln283Arg) rs397516338 0.00019
NM_000371.4(TTR):c.190T>C (p.Phe64Leu) rs138065384 0.00019
NM_000371.4(TTR):c.371G>A (p.Arg124His) rs121918095 0.00019
NM_001031679.3(MSRB3):c.531G>A (p.Pro177=) rs148675122 0.00019
NM_001089.3(ABCA3):c.838C>T (p.Arg280Cys) rs201299260 0.00019
NM_001128840.3(CACNA1D):c.3821C>T (p.Ser1274Phe) rs200382504 0.00019
NM_001199799.2(ILDR1):c.772C>T (p.Gln258Ter) rs142746163 0.00019
NM_001267550.2(TTN):c.23455G>C (p.Glu7819Gln) rs201420077 0.00019
NM_001267550.2(TTN):c.3069C>T (p.Thr1023=) rs371447978 0.00019
NM_001267550.2(TTN):c.3133G>A (p.Val1045Met) rs72647868 0.00019
NM_001267550.2(TTN):c.33856G>A (p.Glu11286Lys) rs376874956 0.00019
NM_001267550.2(TTN):c.39127+10A>C rs397517554 0.00019
NM_001267550.2(TTN):c.39548-8A>G rs369594816 0.00019
NM_001267550.2(TTN):c.52826A>T (p.Gln17609Leu) rs368820294 0.00019
NM_001267550.2(TTN):c.58576G>A (p.Val19526Ile) rs377682563 0.00019
NM_001267550.2(TTN):c.68437G>A (p.Glu22813Lys) rs200797552 0.00019
NM_001267550.2(TTN):c.70644C>T (p.Thr23548=) rs148210834 0.00019
NM_001267550.2(TTN):c.8069C>T (p.Thr2690Ile) rs374620001 0.00019
NM_001267550.2(TTN):c.94623C>T (p.Tyr31541=) rs376539252 0.00019
NM_001292063.2(OTOG):c.1184A>C (p.Gln395Pro) rs876657936 0.00019
NM_001614.5(ACTG1):c.159C>T (p.Tyr53=) rs139751304 0.00019
NM_001927.4(DES):c.635G>A (p.Arg212Gln) rs144261171 0.00019
NM_002230.4(JUP):c.2069A>G (p.Asn690Ser) rs147628503 0.00019
NM_002471.4(MYH6):c.824T>A (p.Ile275Asn) rs201327273 0.00019
NM_003280.3(TNNC1):c.324T>C (p.Ala108=) rs145066209 0.00019
NM_004415.4(DSP):c.1344G>A (p.Leu448=) rs138226280 0.00019
NM_004415.4(DSP):c.6010G>T (p.Val2004Phe) rs764692193 0.00019
NM_004415.4(DSP):c.6351T>C (p.Asp2117=) rs148743859 0.00019
NM_004415.4(DSP):c.8415C>T (p.Ala2805=) rs377148997 0.00019
NM_004612.4(TGFBR1):c.214A>T (p.Ile72Leu) rs111513627 0.00019
NM_004985.5(KRAS):c.451-5535A>C rs201170656 0.00019
NM_005188.4(CBL):c.2588A>G (p.Asn863Ser) rs146250423 0.00019
NM_005343.4(HRAS):c.257A>C (p.Asn86Thr) rs138272051 0.00019
NM_005633.4(SOS1):c.1705C>G (p.Leu569Val) rs200786705 0.00019
NM_006005.3(WFS1):c.1235T>C (p.Val412Ala) rs144951440 0.00019
NM_006393.3(NEBL):c.1728T>C (p.Asp576=) rs1528182 0.00019
NM_006393.3(NEBL):c.369+5G>A rs200249470 0.00019
NM_007294.4(BRCA1):c.4484+14A>G rs80358022 0.00019
NM_007294.4(BRCA1):c.5005G>T (p.Ala1669Ser) rs80357087 0.00019
NM_007294.4(BRCA1):c.827C>G (p.Thr276Arg) rs80357436 0.00019
NM_014000.3(VCL):c.590C>T (p.Thr197Ile) rs189242810 0.00019
NM_014391.3(ANKRD1):c.449A>T (p.Asp150Val) rs150266349 0.00019
NM_014908.4(DOLK):c.1437T>C (p.Ser479=) rs574290806 0.00019
NM_015404.4(WHRN):c.2354C>T (p.Thr785Ile) rs201555289 0.00019
NM_016203.4(PRKAG2):c.123C>T (p.Ser41=) rs397517263 0.00019
NM_017433.5(MYO3A):c.3730T>C (p.Tyr1244His) rs148993025 0.00019
NM_017668.3(NDE1):c.948-5740C>T rs373378619 0.00019
NM_021116.4(ADCY1):c.1293C>T (p.Ala431=) rs145659731 0.00019
NM_024009.3(GJB3):c.547G>A (p.Glu183Lys) rs74315318 0.00019
NM_032119.4(ADGRV1):c.2734+8A>G rs371906040 0.00019
NM_032119.4(ADGRV1):c.6994A>T (p.Ile2332Phe) rs193030567 0.00019
NM_032119.4(ADGRV1):c.7867G>A (p.Glu2623Lys) rs146526977 0.00019
NM_033337.3(CAV3):c.306G>A (p.Ala102=) rs149375325 0.00019
NM_080680.3(COL11A2):c.233-8G>T rs375268140 0.00019
NM_133379.5(TTN):c.13614A>C (p.Gln4538His) rs139344272 0.00019
NM_194248.3(OTOF):c.1506G>A (p.Ser502=) rs199713499 0.00019
NM_194248.3(OTOF):c.2498A>T (p.Gln833Leu) rs191568463 0.00019
NM_194248.3(OTOF):c.2848G>A (p.Val950Ile) rs199613764 0.00019
NM_194248.3(OTOF):c.5029G>A (p.Ala1677Thr) rs372908847 0.00019
NM_194248.3(OTOF):c.5196C>T (p.Tyr1732=) rs138681366 0.00019
NM_194248.3(OTOF):c.5826G>A (p.Thr1942=) rs111033353 0.00019
NM_206933.4(USH2A):c.15374G>A (p.Arg5125His) rs189729452 0.00019
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu) rs201709513 0.00019
NM_206933.4(USH2A):c.6683T>A (p.Val2228Glu) rs117461552 0.00019
NM_000038.6(APC):c.4237A>G (p.Met1413Val) rs141519952 0.00018
NM_000059.4(BRCA2):c.2350A>G (p.Met784Val) rs11571653 0.00018
NM_000117.3(EMD):c.272A>G (p.Asn91Ser) rs137977232 0.00018
NM_000138.5(FBN1):c.902G>T (p.Gly301Val) rs142888621 0.00018
NM_000169.3(GLA):c.129C>T (p.Gly43=) rs146177035 0.00018
NM_000218.3(KCNQ1):c.605-11G>A rs200828849 0.00018
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr) rs63749910 0.00018
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235 0.00018
NM_000335.5(SCN5A):c.5901C>G (p.Ile1967Met) rs199473333 0.00018
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) rs61751408 0.00018
NM_000368.5(TSC1):c.3184C>T (p.Arg1062Trp) rs118203745 0.00018
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_000548.5(TSC2):c.3421G>A (p.Ala1141Thr) rs45505895 0.00018
NM_001035.3(RYR2):c.3225C>T (p.Ala1075=) rs727505215 0.00018
NM_001038603.3(MARVELD2):c.211A>G (p.Ile71Val) rs150773481 0.00018
NM_001199107.2(TBC1D24):c.1503G>A (p.Gly501=) rs368735897 0.00018
NM_001267550.2(TTN):c.14232C>A (p.Asp4744Glu) rs55906845 0.00018
NM_001267550.2(TTN):c.23965C>T (p.Arg7989Cys) rs201653851 0.00018
NM_001267550.2(TTN):c.26935A>C (p.Asn8979His) rs376982715 0.00018
NM_001267550.2(TTN):c.30511+3G>A rs563582627 0.00018
NM_001267550.2(TTN):c.32706G>A (p.Ala10902=) rs372124201 0.00018
NM_001267550.2(TTN):c.32953C>T (p.Arg10985Trp) rs201991864 0.00018
NM_001267550.2(TTN):c.43577G>A (p.Arg14526Gln) rs373491468 0.00018
NM_001267550.2(TTN):c.55512C>T (p.Asp18504=) rs377164046 0.00018
NM_001267550.2(TTN):c.58072C>T (p.Arg19358Cys) rs371973579 0.00018
NM_001267550.2(TTN):c.63439G>A (p.Ala21147Thr) rs72646853 0.00018
NM_001267550.2(TTN):c.83618T>C (p.Val27873Ala) rs200775919 0.00018
NM_001267550.2(TTN):c.96234C>T (p.Tyr32078=) rs376532382 0.00018
NM_001267550.2(TTN):c.96252A>G (p.Thr32084=) rs369626133 0.00018
NM_001384140.1(PCDH15):c.2424G>C (p.Lys808Asn) rs375855445 0.00018
NM_001692.4(ATP6V1B1):c.785+10C>T rs76241121 0.00018
NM_002230.4(JUP):c.1377G>T (p.Leu459=) rs147370522 0.00018
NM_002230.4(JUP):c.1582G>A (p.Val528Ile) rs368271628 0.00018
NM_002230.4(JUP):c.2031G>A (p.Pro677=) rs188888662 0.00018
NM_002471.4(MYH6):c.4536G>A (p.Ser1512=) rs142539180 0.00018
NM_004006.3(DMD):c.5485C>G (p.Gln1829Glu) rs754765424 0.00018
NM_004415.4(DSP):c.269A>G (p.Gln90Arg) rs188516326 0.00018
NM_004568.6(SERPINB6):c.313-5C>G rs370994947 0.00018
NM_005219.5(DIAPH1):c.200C>T (p.Ala67Val) rs142480526 0.00018
NM_005373.3(MPL):c.79+2T>A rs146249964 0.00018
NM_005633.4(SOS1):c.*4C>T rs188849286 0.00018
NM_006005.3(WFS1):c.1923G>A (p.Thr641=) rs139040290 0.00018
NM_006005.3(WFS1):c.2209G>A (p.Glu737Lys) rs147834269 0.00018
NM_006231.4(POLE):c.5636G>A (p.Arg1879His) rs145621558 0.00018
NM_007078.3(LDB3):c.1910C>T (p.Ala637Val) rs141569007 0.00018
NM_007294.4(BRCA1):c.5406+33A>T rs80358092 0.00018
NM_020975.6(RET):c.1531G>A (p.Glu511Lys) rs201553718 0.00018
NM_022124.6(CDH23):c.3431-6A>T rs377614198 0.00018
NM_032119.4(ADGRV1):c.15471C>T (p.Ser5157=) rs146082509 0.00018
NM_080680.3(COL11A2):c.2017-5T>G rs200523422 0.00018
NM_153676.4(USH1C):c.186T>C (p.Ile62=) rs200239508 0.00018
NM_194248.3(OTOF):c.4454C>T (p.Pro1485Leu) rs200699092 0.00018
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) rs121918661 0.00018
NM_000038.6(APC):c.3479C>A (p.Thr1160Lys) rs201004111 0.00017
NM_000249.4(MLH1):c.1040C>A (p.Thr347Asn) rs201541505 0.00017
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His) rs202139499 0.00017
NM_000260.4(MYO7A):c.2106C>T (p.Arg702=) rs369787754 0.00017
NM_000335.5(SCN5A):c.3344G>A (p.Arg1115Gln) rs369678002 0.00017
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392 0.00017
NM_000371.4(TTR):c.14G>A (p.Arg5His) rs138657343 0.00017
NM_000384.3(APOB):c.13181T>C (p.Val4394Ala) rs12720843 0.00017
NM_000441.2(SLC26A4):c.1040C>T (p.Ser347Leu) rs150946659 0.00017
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe) rs145254330 0.00017
NM_001038603.3(MARVELD2):c.*2G>A rs530892254 0.00017
NM_001039141.3(TRIOBP):c.409A>G (p.Ser137Gly) rs201008196 0.00017
NM_001042492.3(NF1):c.6172A>G (p.Ile2058Val) rs201712827 0.00017
NM_001128840.3(CACNA1D):c.2406+5G>A rs193270389 0.00017
NM_001128840.3(CACNA1D):c.2853C>T (p.Cys951=) rs147169370 0.00017
NM_001267550.2(TTN):c.14533G>A (p.Asp4845Asn) rs373378672 0.00017
NM_001267550.2(TTN):c.1709C>T (p.Ala570Val) rs146690035 0.00017
NM_001267550.2(TTN):c.27846C>T (p.Ser9282=) rs182355009 0.00017
NM_001267550.2(TTN):c.54148C>T (p.Arg18050Cys) rs55734111 0.00017
NM_001267550.2(TTN):c.61556G>A (p.Arg20519Gln) rs727504191 0.00017
NM_001267550.2(TTN):c.65575+10T>C rs72646864 0.00017
NM_001267550.2(TTN):c.687T>C (p.Phe229=) rs376527094 0.00017
NM_001267550.2(TTN):c.77848C>T (p.Leu25950Phe) rs376814602 0.00017
NM_001378454.1(ALMS1):c.9389C>G (p.Pro3130Arg) rs200586877 0.00017
NM_001614.5(ACTG1):c.825C>T (p.His275=) rs145303691 0.00017
NM_001943.5(DSG2):c.1851C>T (p.Leu617=) rs202057770 0.00017
NM_004999.4(MYO6):c.188-3T>C rs373199401 0.00017
NM_007078.3(LDB3):c.1335C>T (p.Tyr445=) rs587781024 0.00017
NM_007078.3(LDB3):c.1858-10T>C rs202208256 0.00017
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys) rs28897686 0.00017
NM_014391.3(ANKRD1):c.347C>T (p.Thr116Met) rs142354133 0.00017
NM_020297.4(ABCC9):c.3096+13C>T rs370712530 0.00017
NM_020297.4(ABCC9):c.4512+690C>T rs397517191 0.00017
NM_020433.5(JPH2):c.1852A>G (p.Thr618Ala) rs376612687 0.00017
NM_022124.6(CDH23):c.6426A>G (p.Leu2142=) rs371932558 0.00017
NM_024334.3(TMEM43):c.361A>G (p.Met121Val) rs369878538 0.00017
NM_032119.4(ADGRV1):c.13382A>G (p.His4461Arg) rs182698253 0.00017
NM_032119.4(ADGRV1):c.16640G>A (p.Arg5547His) rs200907244 0.00017
NM_032119.4(ADGRV1):c.9558C>T (p.Thr3186=) rs201089046 0.00017
NM_033056.4(PCDH15):c.4974A>C (p.Ser1658=) rs147993163 0.00017
NM_033337.3(CAV3):c.234G>A (p.Thr78=) rs148846096 0.00017
NM_133379.5(TTN):c.15981G>A (p.Gln5327=) rs186841908 0.00017
NM_138691.3(TMC1):c.2070G>A (p.Ala690=) rs145757452 0.00017
NM_152594.3(SPRED1):c.124G>A (p.Val42Ile) rs147204964 0.00017
NM_153700.2(STRC):c.2640G>T (p.Glu880Asp) rs1342864499 0.00017
NM_173477.5(USH1G):c.756C>T (p.Asp252=) rs146752863 0.00017
NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys) rs201309310 0.00016
NM_000249.4(MLH1):c.65G>C (p.Gly22Ala) rs41295280 0.00016
NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys) rs193922377 0.00016
NM_000256.3(MYBPC3):c.1566G>A (p.Ala522=) rs376041792 0.00016
NM_000256.3(MYBPC3):c.246T>C (p.Ile82=) rs372502369 0.00016
NM_000257.4(MYH7):c.5718A>C (p.Ala1906=) rs45523233 0.00016
NM_000268.4(NF2):c.613A>G (p.Met205Val) rs141629512 0.00016
NM_000314.8(PTEN):c.234C>T (p.Thr78=) rs35917308 0.00016
NM_000337.6(SGCD):c.92G>A (p.Arg31Gln) rs200476861 0.00016
NM_000368.5(TSC1):c.201A>G (p.Pro67=) rs371555137 0.00016
NM_000463.3(UGT1A1):c.1456T>G (p.Tyr486Asp) rs34993780 0.00016
NM_000540.3(RYR1):c.9713A>G (p.Glu3238Gly) rs200950673 0.00016
NM_000545.8(HNF1A):c.716C>T (p.Ala239Val) rs587778397 0.00016
NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn) rs193922623 0.00016
NM_001035.3(RYR2):c.2711A>G (p.Tyr904Cys) rs201131315 0.00016
NM_001035.3(RYR2):c.2755G>A (p.Val919Met) rs201079716 0.00016
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met) rs200165598 0.00016
NM_001105206.3(LAMA4):c.3175G>A (p.Val1059Met) rs373650093 0.00016
NM_001127453.2(GSDME):c.934G>A (p.Asp312Asn) rs148716975 0.00016
NM_001134363.3(RBM20):c.3004C>G (p.Leu1002Val) rs375355193 0.00016
NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu) rs72629783 0.00016
NM_001267550.2(TTN):c.106955G>A (p.Arg35652Gln) rs200497615 0.00016
NM_001267550.2(TTN):c.12145C>T (p.Pro4049Ser) rs201888760 0.00016
NM_001267550.2(TTN):c.20772G>A (p.Lys6924=) rs369993514 0.00016
NM_001267550.2(TTN):c.28547G>A (p.Arg9516His) rs374156904 0.00016
NM_001267550.2(TTN):c.28741A>G (p.Ile9581Val) rs371826762 0.00016
NM_001267550.2(TTN):c.40515G>A (p.Pro13505=) rs367958537 0.00016
NM_001267550.2(TTN):c.42891C>T (p.Gly14297=) rs550471556 0.00016
NM_001267550.2(TTN):c.44593G>A (p.Glu14865Lys) rs543102139 0.00016
NM_001267550.2(TTN):c.51782G>A (p.Arg17261Gln) rs201825412 0.00016
NM_001267550.2(TTN):c.52853G>A (p.Arg17618His) rs371538664 0.00016
NM_001267550.2(TTN):c.54104C>T (p.Ala18035Val) rs182445366 0.00016
NM_001267550.2(TTN):c.54490T>C (p.Tyr18164His) rs370135374 0.00016
NM_001267550.2(TTN):c.55673G>A (p.Arg18558His) rs115867512 0.00016
NM_001267550.2(TTN):c.62994C>T (p.Tyr20998=) rs375006117 0.00016
NM_001267550.2(TTN):c.68823C>T (p.Tyr22941=) rs200717463 0.00016
NM_001267550.2(TTN):c.7316G>A (p.Arg2439His) rs142129359 0.00016
NM_001267550.2(TTN):c.87367A>C (p.Ser29123Arg) rs375198596 0.00016
NM_001267550.2(TTN):c.87878G>A (p.Arg29293His) rs202001776 0.00016
NM_001267550.2(TTN):c.92684G>A (p.Arg30895Gln) rs200141081 0.00016
NM_001267550.2(TTN):c.92696T>C (p.Ile30899Thr) rs373727636 0.00016
NM_001267550.2(TTN):c.92782G>C (p.Asp30928His) rs397517756 0.00016
NM_001267550.2(TTN):c.96684C>T (p.Tyr32228=) rs368423941 0.00016
NM_001267550.2(TTN):c.99969C>T (p.Ile33323=) rs375403439 0.00016
NM_001292063.2(OTOG):c.2294-6C>T rs201721923 0.00016
NM_001292063.2(OTOG):c.371C>T (p.Pro124Leu) rs542646349 0.00016
NM_001371333.1(DIABLO):c.179C>T (p.Ala60Val) rs199898020 0.00016
NM_001378609.3(OTOGL):c.1078C>T (p.Arg360Ter) rs368844341 0.00016
NM_001384140.1(PCDH15):c.4103A>G (p.Glu1368Gly) rs111033449 0.00016
NM_001384474.1(LOXHD1):c.6462C>G (p.Val2154=) rs141737883 0.00016
NM_001386795.1(DTNA):c.1485G>A (p.Ala495=) rs397517443 0.00016
NM_001943.5(DSG2):c.1912G>A (p.Gly638Arg) rs201564919 0.00016
NM_002230.4(JUP):c.2178C>T (p.Ile726=) rs141295561 0.00016
NM_002471.4(MYH6):c.5293G>A (p.Ala1765Thr) rs397516775 0.00016
NM_002473.6(MYH9):c.4556G>A (p.Ser1519Asn) rs138193963 0.00016
NM_002473.6(MYH9):c.4956C>T (p.Arg1652=) rs148632964 0.00016
NM_002880.4(RAF1):c.122G>A (p.Arg41Gln) rs145611571 0.00016
NM_002880.4(RAF1):c.576A>G (p.Gln192=) rs148759910 0.00016
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) rs111033294 0.00016
NM_004006.3(DMD):c.5701G>A (p.Ala1901Thr) rs201302282 0.00016
NM_004281.4(BAG3):c.1588G>A (p.Val530Met) rs144678100 0.00016
NM_004281.4(BAG3):c.653G>A (p.Arg218Gln) rs201638005 0.00016
NM_004333.6(BRAF):c.483G>C (p.Leu161=) rs61730029 0.00016
NM_004415.4(DSP):c.943C>T (p.Arg315Cys) rs200476515 0.00016
NM_004612.4(TGFBR1):c.1216T>C (p.Leu406=) rs200062984 0.00016
NM_004985.5(KRAS):c.198A>G (p.Ala66=) rs200229810 0.00016
NM_005379.4(MYO1A):c.2684T>C (p.Met895Thr) rs148582008 0.00016
NM_005633.4(SOS1):c.109A>G (p.Thr37Ala) rs150565592 0.00016
NM_005633.4(SOS1):c.2966G>A (p.Arg989Lys) rs202043599 0.00016
NM_005633.4(SOS1):c.3706C>A (p.Pro1236Thr) rs727504636 0.00016
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg) rs200672755 0.00016
NM_006005.3(WFS1):c.825G>A (p.Ala275=) rs566634291 0.00016
NM_006231.4(POLE):c.3245G>A (p.Arg1082His) rs201744227 0.00016
NM_007214.5(SEC63):c.340-8T>C rs1569556 0.00016
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu) rs80357201 0.00016
NM_014000.3(VCL):c.1716T>G (p.Leu572=) rs189781480 0.00016
NM_014000.3(VCL):c.1842G>A (p.Thr614=) rs144117013 0.00016
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe) rs202020308 0.00016
NM_016239.4(MYO15A):c.5866C>T (p.Arg1956Trp) rs185873402 0.00016
NM_020297.4(ABCC9):c.1909G>A (p.Val637Ile) rs113542001 0.00016
NM_020297.4(ABCC9):c.3669G>A (p.Thr1223=) rs146942382 0.00016
NM_020297.4(ABCC9):c.4062G>A (p.Ser1354=) rs145005748 0.00016
NM_020297.4(ABCC9):c.4512+765C>T rs142875103 0.00016
NM_022124.6(CDH23):c.3580-13C>T rs150894638 0.00016
NM_022124.6(CDH23):c.6050-10C>T rs560760228 0.00016
NM_030662.4(MAP2K2):c.420C>T (p.Asp140=) rs369925884 0.00016
NM_031475.3(ESPN):c.2215C>G (p.Leu739Val) rs368795540 0.00016
NM_032119.4(ADGRV1):c.10228G>A (p.Val3410Met) rs1996552 0.00016
NM_032119.4(ADGRV1):c.1056G>A (p.Pro352=) rs115239207 0.00016
NM_032119.4(ADGRV1):c.14575G>A (p.Gly4859Ser) rs747275713 0.00016
NM_032119.4(ADGRV1):c.17613G>A (p.Gln5871=) rs371091564 0.00016
NM_032119.4(ADGRV1):c.18754G>A (p.Asp6252Asn) rs201800819 0.00016
NM_080680.3(COL11A2):c.2921C>T (p.Ala974Val) rs376797260 0.00016
NM_080680.3(COL11A2):c.4863+7G>A rs200947059 0.00016
NM_138691.3(TMC1):c.822G>A (p.Pro274=) rs370523728 0.00016
NM_144573.4(NEXN):c.893C>G (p.Thr298Arg) rs200753280 0.00016
NM_152269.5(MTRFR):c.210del (p.Gly72fs) rs576462794 0.00016
NM_170707.4(LMNA):c.1656C>T (p.Asp552=) rs370219874 0.00016
NM_170707.4(LMNA):c.1657G>A (p.Asp553Asn) rs373671419 0.00016
NM_170707.4(LMNA):c.895A>G (p.Ile299Val) rs150924946 0.00016
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys) rs111033258 0.00016
NM_174878.3(CLRN1):c.226T>C (p.Leu76=) rs139829306 0.00016
NM_194248.3(OTOF):c.2590C>T (p.Arg864Cys) rs150070091 0.00016
NM_194248.3(OTOF):c.5331C>T (p.Asp1777=) rs141082575 0.00016
NM_206933.4(USH2A):c.11734G>A (p.Glu3912Lys) rs142617606 0.00016
NM_206933.4(USH2A):c.6186A>C (p.Pro2062=) rs200247886 0.00016
NM_206933.4(USH2A):c.9688G>A (p.Ala3230Thr) rs528342000 0.00016
NM_206933.4(USH2A):c.9871G>A (p.Gly3291Ser) rs138543813 0.00016
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp) rs141656719 0.00015
NM_000138.5(FBN1):c.3423G>A (p.Pro1141=) rs140396599 0.00015
NM_000249.4(MLH1):c.1820T>A (p.Leu607His) rs41295284 0.00015
NM_000251.3(MSH2):c.2537A>G (p.Gln846Arg) rs140754514 0.00015
NM_000256.3(MYBPC3):c.1226+6T>C rs397515892 0.00015
NM_000256.3(MYBPC3):c.1633C>A (p.Leu545Met) rs377163678 0.00015
NM_000257.4(MYH7):c.5562G>A (p.Thr1854=) rs368706722 0.00015
NM_000260.4(MYO7A):c.3404C>A (p.Ser1135Tyr) rs376688581 0.00015
NM_000260.4(MYO7A):c.4471G>A (p.Val1491Met) rs369768947 0.00015
NM_000337.6(SGCD):c.123C>G (p.Leu41=) rs200670993 0.00015
NM_000371.4(TTR):c.384C>T (p.Ala128=) rs143906738 0.00015
NM_000432.4(MYL2):c.243G>T (p.Val81=) rs368851472 0.00015
NM_000601.6(HGF):c.471A>G (p.Pro157=) rs142045938 0.00015
NM_000719.7(CACNA1C):c.6040G>A (p.Val2014Ile) rs199473660 0.00015
NM_001005242.3(PKP2):c.195C>T (p.Ala65=) rs397517014 0.00015
NM_001018005.2(TPM1):c.115-316G>A rs397516491 0.00015
NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile) rs201047812 0.00015
NM_001042492.3(NF1):c.6929C>T (p.Pro2310Leu) rs148736217 0.00015
NM_001145809.2(MYH14):c.3098C>T (p.Thr1033Met) rs201746408 0.00015
NM_001195263.2(PDZD7):c.3078C>T (p.Pro1026=) rs534463809 0.00015
NM_001267550.2(TTN):c.104364C>T (p.Ser34788=) rs181679744 0.00015
NM_001267550.2(TTN):c.24622G>A (p.Glu8208Lys) rs190192954 0.00015
NM_001267550.2(TTN):c.97859C>T (p.Ala32620Val) rs397517772 0.00015
NM_001276345.2(TNNT2):c.692T>C (p.Ile231Thr) rs45520032 0.00015
NM_001368067.1(LDB3):c.511G>A (p.Ala171Thr) rs373632943 0.00015
NM_001927.4(DES):c.243C>T (p.Ser81=) rs201594392 0.00015
NM_001943.5(DSG2):c.2305G>A (p.Glu769Lys) rs371146201 0.00015
NM_002230.4(JUP):c.2086+13C>T rs199935213 0.00015
NM_002294.3(LAMP2):c.1093+2450G>A rs149783672 0.00015
NM_002471.4(MYH6):c.3195G>C (p.Gln1065His) rs267606904 0.00015
NM_002473.6(MYH9):c.2295C>T (p.Ala765=) rs150133983 0.00015
NM_002473.6(MYH9):c.32A>G (p.Tyr11Cys) rs201415443 0.00015
NM_004006.3(DMD):c.32-14A>G rs367757761 0.00015
NM_004100.5(EYA4):c.415T>A (p.Ser139Thr) rs146999911 0.00015
NM_004568.6(SERPINB6):c.125A>C (p.Tyr42Ser) rs147962494 0.00015
NM_004985.5(KRAS):c.-27C>T rs587781013 0.00015
NM_005159.5(ACTC1):c.-22-15C>G rs368171271 0.00015
NM_005219.5(DIAPH1):c.2107C>G (p.Pro703Ala) rs201433617 0.00015
NM_005422.4(TECTA):c.33C>A (p.Val11=) rs140393508 0.00015
NM_006005.3(WFS1):c.2667G>A (p.Ala889=) rs71526454 0.00015
NM_014476.6(PDLIM3):c.399-10A>G rs199979457 0.00015
NM_016203.4(PRKAG2):c.698C>G (p.Ala233Gly) rs201240745 0.00015
NM_016239.4(MYO15A):c.7367C>G (p.Ala2456Gly) rs199953758 0.00015
NM_022124.6(CDH23):c.4786C>T (p.Arg1596Cys) rs372636295 0.00015
NM_024422.6(DSC2):c.1521-7C>T rs374810953 0.00015
NM_024422.6(DSC2):c.2019C>T (p.Thr673=) rs201469817 0.00015
NM_133379.5(TTN):c.12724A>G (p.Ser4242Gly) rs541264551 0.00015
NM_194248.3(OTOF):c.4363-6G>A rs199567872 0.00015
NM_194248.3(OTOF):c.446C>T (p.Thr149Met) rs140454738 0.00015
NM_206933.4(USH2A):c.1486A>C (p.Thr496Pro) rs145114473 0.00015
NM_206933.4(USH2A):c.1590A>T (p.Thr530=) rs144343161 0.00015
NM_206933.4(USH2A):c.2332G>T (p.Asp778Tyr) rs142898216 0.00015
NM_000092.5(COL4A4):c.4982T>A (p.Phe1661Tyr) rs374119389 0.00014
NM_000113.3(TOR1A):c.613T>A (p.Phe205Ile) rs267607134 0.00014
NM_000138.5(FBN1):c.6288C>T (p.Cys2096=) rs144822241 0.00014
NM_000138.5(FBN1):c.7661G>A (p.Arg2554Gln) rs199522781 0.00014
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu) rs61748083 0.00014
NM_000179.3(MSH6):c.884A>G (p.Lys295Arg) rs267608051 0.00014
NM_000218.3(KCNQ1):c.1110G>A (p.Ala370=) rs1805118 0.00014
NM_000219.6(KCNE1):c.325G>A (p.Val109Ile) rs77442996 0.00014
NM_000249.4(MLH1):c.803A>G (p.Glu268Gly) rs63750650 0.00014
NM_000256.3(MYBPC3):c.2149-5C>T rs36211722 0.00014
NM_000256.3(MYBPC3):c.2460G>A (p.Arg820=) rs532996422 0.00014
NM_000257.4(MYH7):c.957C>T (p.Thr319=) rs368699342 0.00014
NM_000260.4(MYO7A):c.1801G>A (p.Ala601Thr) rs782481491 0.00014
NM_000268.4(NF2):c.240+15C>T rs200701337 0.00014
NM_000414.4(HSD17B4):c.1767+8T>C rs190659146 0.00014
NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp) rs147320363 0.00014
NM_000546.6(TP53):c.869G>A (p.Arg290His) rs55819519 0.00014
NM_001018005.2(TPM1):c.114+14C>T rs576659891 0.00014
NM_001035.3(RYR2):c.1476+4C>T rs369442980 0.00014
NM_001035.3(RYR2):c.3152G>A (p.Arg1051His) rs79457258 0.00014
NM_001035.3(RYR2):c.4747C>T (p.Pro1583Ser) rs200070226 0.00014
NM_001042492.3(NF1):c.7368A>G (p.Lys2456=) rs201287021 0.00014
NM_001103.4(ACTN2):c.615+15C>T rs369293885 0.00014
NM_001105206.3(LAMA4):c.1326C>T (p.Leu442=) rs3752580 0.00014
NM_001105206.3(LAMA4):c.1674G>A (p.Ala558=) rs150809897 0.00014
NM_001105206.3(LAMA4):c.3558-7T>C rs200864778 0.00014
NM_001127453.2(GSDME):c.1183+9A>T rs397516910 0.00014
NM_001128840.3(CACNA1D):c.6444G>A (p.Glu2148=) rs373851693 0.00014
NM_001128840.3(CACNA1D):c.825C>T (p.Ala275=) rs193196995 0.00014
NM_001134363.3(RBM20):c.1633G>A (p.Val545Ile) rs397516596 0.00014
NM_001134363.3(RBM20):c.1958C>T (p.Thr653Ile) rs727505310 0.00014
NM_001145809.2(MYH14):c.526G>A (p.Ala176Thr) rs138001307 0.00014
NM_001267550.2(TTN):c.103104A>G (p.Leu34368=) rs371535721 0.00014
NM_001267550.2(TTN):c.103434C>A (p.Asp34478Glu) rs376371272 0.00014
NM_001267550.2(TTN):c.104936G>C (p.Gly34979Ala) rs376634193 0.00014
NM_001267550.2(TTN):c.107915G>T (p.Ser35972Ile) rs397517478 0.00014
NM_001267550.2(TTN):c.21197A>G (p.Lys7066Arg) rs553548392 0.00014
NM_001267550.2(TTN):c.23029G>A (p.Gly7677Arg) rs367826445 0.00014
NM_001267550.2(TTN):c.25758C>T (p.Asp8586=) rs372802604 0.00014
NM_001267550.2(TTN):c.2731G>A (p.Val911Ile) rs141961878 0.00014
NM_001267550.2(TTN):c.28678G>A (p.Asp9560Asn) rs771843862 0.00014
NM_001267550.2(TTN):c.32971G>A (p.Glu10991Lys) rs201081803 0.00014
NM_001267550.2(TTN):c.33838C>T (p.Pro11280Ser) rs374449452 0.00014
NM_001267550.2(TTN):c.44282-6G>A rs372166634 0.00014
NM_001267550.2(TTN):c.54160G>C (p.Val18054Leu) rs200968679 0.00014
NM_001267550.2(TTN):c.56942C>T (p.Ala18981Val) rs397517627 0.00014
NM_001267550.2(TTN):c.58190C>T (p.Thr19397Met) rs373527448 0.00014
NM_001267550.2(TTN):c.66590G>A (p.Arg22197Gln) rs374656017 0.00014
NM_001267550.2(TTN):c.72182T>C (p.Met24061Thr) rs200471370 0.00014
NM_001267550.2(TTN):c.75490G>A (p.Asp25164Asn) rs192468365 0.00014
NM_001267550.2(TTN):c.80115G>T (p.Glu26705Asp) rs558830502 0.00014
NM_001267550.2(TTN):c.82103A>G (p.Asp27368Gly) rs145373396 0.00014
NM_001267550.2(TTN):c.83870G>C (p.Arg27957Thr) rs148067743 0.00014
NM_001267550.2(TTN):c.84977G>A (p.Arg28326Gln) rs200843338 0.00014
NM_001267550.2(TTN):c.85745T>A (p.Ile28582Lys) rs201688358 0.00014
NM_001267550.2(TTN):c.87111G>A (p.Glu29037=) rs374902148 0.00014
NM_001267550.2(TTN):c.88685G>A (p.Gly29562Asp) rs72648235 0.00014
NM_001267550.2(TTN):c.89946C>T (p.Val29982=) rs373311459 0.00014
NM_001267550.2(TTN):c.96173G>A (p.Arg32058Gln) rs374063064 0.00014
NM_001267550.2(TTN):c.96904+4T>C rs373514079 0.00014
NM_001267550.2(TTN):c.97642C>T (p.Arg32548Cys) rs377599569 0.00014
NM_001267550.2(TTN):c.99340T>C (p.Leu33114=) rs371656672 0.00014
NM_001298.3(CNGA3):c.101+1G>A rs147118493 0.00014
NM_001330.5(CTF1):c.*5C>A rs397516644 0.00014
NM_001378454.1(ALMS1):c.11953A>G (p.Ile3985Val) rs201728850 0.00014
NM_001378609.3(OTOGL):c.1111C>T (p.His371Tyr) rs78377084 0.00014
NM_001393500.2(TOMT):c.110G>A (p.Arg37Gln) rs188715129 0.00014
NM_001393500.2(TOMT):c.745A>C (p.Ile249Leu) rs727503153 0.00014
NM_002109.6(HARS1):c.1372G>A (p.Ala458Thr) rs891844407 0.00014
NM_002230.4(JUP):c.708-4C>G rs201313464 0.00014
NM_002230.4(JUP):c.801C>T (p.Ala267=) rs138397457 0.00014
NM_002294.3(LAMP2):c.591G>A (p.Val197=) rs201030806 0.00014
NM_002471.4(MYH6):c.1132G>A (p.Gly378Ser) rs148962966 0.00014
NM_002471.4(MYH6):c.2429+14A>C rs200817451 0.00014
NM_002880.4(RAF1):c.680+6T>C rs371846795 0.00014
NM_004004.6(GJB2):c.110T>C (p.Val37Ala) rs141774369 0.00014
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn) rs111033188 0.00014
NM_004006.3(DMD):c.3805C>T (p.His1269Tyr) rs151150099 0.00014
NM_004006.3(DMD):c.5723A>T (p.Asp1908Val) rs145266970 0.00014
NM_004100.5(EYA4):c.1418G>T (p.Gly473Val) rs146977269 0.00014
NM_004415.4(DSP):c.242G>A (p.Cys81Tyr) rs140965835 0.00014
NM_004415.4(DSP):c.3862A>C (p.Lys1288Gln) rs138907450 0.00014
NM_004463.3(FGD1):c.2581-6C>T rs368589817 0.00014
NM_004985.5(KRAS):c.451-14T>C rs372508498 0.00014
NM_004999.4(MYO6):c.2665A>G (p.Met889Val) rs727505098 0.00014
NM_005379.4(MYO1A):c.2804T>C (p.Ile935Thr) rs372760228 0.00014
NM_005422.4(TECTA):c.4813G>A (p.Val1605Ile) rs201952240 0.00014
NM_005422.4(TECTA):c.6162C>T (p.Ile2054=) rs140608882 0.00014
NM_005633.4(SOS1):c.1962G>A (p.Glu654=) rs144382701 0.00014
NM_006005.3(WFS1):c.1399C>T (p.Leu467=) rs142700542 0.00014
NM_006005.3(WFS1):c.2040G>A (p.Glu680=) rs375263408 0.00014
NM_006005.3(WFS1):c.2398A>G (p.Lys800Glu) rs55674815 0.00014
NM_006231.4(POLE):c.6004+5G>T rs372169366 0.00014
NM_007078.3(LDB3):c.897-14T>C rs763081924 0.00014
NM_015340.4(LARS2):c.1383T>C (p.Ile461=) rs35347543 0.00014
NM_016239.4(MYO15A):c.4424T>C (p.Ile1475Thr) rs201808265 0.00014
NM_016239.4(MYO15A):c.829C>T (p.His277Tyr) rs201541616 0.00014
NM_017777.4(MKS1):c.417G>A (p.Glu139=) rs386834048 0.00014
NM_020975.6(RET):c.1063+9G>A rs765463636 0.00014
NM_020975.6(RET):c.1699G>A (p.Asp567Asn) rs147219360 0.00014
NM_022114.4(PRDM16):c.1187-10G>C rs201517837 0.00014
NM_022124.6(CDH23):c.2891G>A (p.Arg964Gln) rs376560330 0.00014
NM_022124.6(CDH23):c.2940G>A (p.Thr980=) rs373631099 0.00014
NM_022124.6(CDH23):c.4405A>G (p.Ile1469Val) rs200635365 0.00014
NM_022124.6(CDH23):c.4498T>A (p.Ser1500Thr) rs375641853 0.00014
NM_024334.3(TMEM43):c.280G>A (p.Ala94Thr) rs369142200 0.00014
NM_030662.3(MAP2K2):c.*8C>T rs377675706 0.00014
NM_030662.4(MAP2K2):c.529-12G>A rs375701469 0.00014
NM_031475.3(ESPN):c.*6G>A rs200806495 0.00014
NM_032119.4(ADGRV1):c.2456G>A (p.Ser819Asn) rs182395524 0.00014
NM_032119.4(ADGRV1):c.6029A>G (p.Lys2010Arg) rs774354351 0.00014
NM_032119.4(ADGRV1):c.8585A>G (p.Tyr2862Cys) rs876657827 0.00014
NM_057176.3(BSND):c.102C>T (p.Tyr34=) rs141403253 0.00014
NM_080680.3(COL11A2):c.3725C>T (p.Ser1242Leu) rs534570825 0.00014
NM_080680.3(COL11A2):c.4590C>T (p.Thr1530=) rs375329541 0.00014
NM_153676.4(USH1C):c.790G>A (p.Val264Ile) rs79875849 0.00014
NM_206933.4(USH2A):c.14517G>A (p.Thr4839=) rs397517991 0.00014
NM_206933.4(USH2A):c.1581C>T (p.Cys527=) rs140331348 0.00014
NM_206933.4(USH2A):c.1608C>T (p.Cys536=) rs187380128 0.00014
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg) rs121434274 0.00013
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys) rs137852623 0.00013
NM_000179.3(MSH6):c.59C>T (p.Ala20Val) rs63750664 0.00013
NM_000218.3(KCNQ1):c.820A>G (p.Ile274Val) rs199472728 0.00013
NM_000256.3(MYBPC3):c.3326C>T (p.Thr1109Ile) rs397516016 0.00013
NM_000256.3(MYBPC3):c.501C>T (p.Thr167=) rs397516054 0.00013
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr) rs45478699 0.00013
NM_000257.4(MYH7):c.3726+6C>T rs377745688 0.00013
NM_000260.4(MYO7A):c.3384G>C (p.Lys1128Asn) rs372050452 0.00013
NM_000260.4(MYO7A):c.3469A>G (p.Ile1157Val) rs397516300 0.00013
NM_000307.5(POU3F4):c.506C>T (p.Pro169Leu) rs200696740 0.00013
NM_000307.5(POU3F4):c.753G>A (p.Leu251=) rs779713849 0.00013
NM_000335.5(SCN5A):c.1891-8G>A rs12720064 0.00013
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu) rs374704824 0.00013
NM_001005242.3(PKP2):c.1379-2018G>A rs369518480 0.00013
NM_001005242.3(PKP2):c.1509T>C (p.Asn503=) rs143782040 0.00013
NM_001031679.3(MSRB3):c.-67G>C rs368104588 0.00013
NM_001035.3(RYR2):c.3251G>A (p.Arg1084Lys) rs193922624 0.00013
NM_001039141.3(TRIOBP):c.6515G>A (p.Arg2172Gln) rs200528850 0.00013
NM_001103.4(ACTN2):c.1040C>T (p.Thr347Met) rs727504590 0.00013
NM_001105206.3(LAMA4):c.1673C>T (p.Ala558Val) rs137893207 0.00013
NM_001145809.2(MYH14):c.810C>T (p.Phe270=) rs374146214 0.00013
NM_001256317.3(TMPRSS3):c.239G>A (p.Arg80His) rs146159479 0.00013
NM_001267550.2(TTN):c.100417G>A (p.Gly33473Ser) rs397517783 0.00013
NM_001267550.2(TTN):c.106837T>G (p.Ser35613Ala) rs374405802 0.00013
NM_001267550.2(TTN):c.16091G>A (p.Arg5364His) rs200941841 0.00013
NM_001267550.2(TTN):c.16480G>A (p.Gly5494Arg) rs727504697 0.00013
NM_001267550.2(TTN):c.1742C>T (p.Pro581Leu) rs199778910 0.00013
NM_001267550.2(TTN):c.23925C>T (p.Ser7975=) rs374879942 0.00013
NM_001267550.2(TTN):c.28131C>T (p.Asn9377=) rs72648997 0.00013
NM_001267550.2(TTN):c.33059A>G (p.Tyr11020Cys) rs72650035 0.00013
NM_001267550.2(TTN):c.43417G>C (p.Asp14473His) rs397517573 0.00013
NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln) rs200944827 0.00013
NM_001267550.2(TTN):c.50452G>A (p.Glu16818Lys) rs397517600 0.00013
NM_001267550.2(TTN):c.53166C>T (p.Asn17722=) rs371730757 0.00013
NM_001267550.2(TTN):c.62534C>G (p.Thr20845Arg) rs727505316 0.00013
NM_001267550.2(TTN):c.82810G>A (p.Gly27604Ser) rs199929362 0.00013
NM_001267550.2(TTN):c.8434G>C (p.Val2812Leu) rs146636599 0.00013
NM_001267550.2(TTN):c.85769G>A (p.Arg28590Gln) rs375667028 0.00013
NM_001267550.2(TTN):c.86935G>A (p.Val28979Ile) rs201687390 0.00013
NM_001267550.2(TTN):c.92333C>G (p.Thr30778Arg) rs201019681 0.00013
NM_001267550.2(TTN):c.95094C>T (p.Ala31698=) rs373509153 0.00013
NM_001330.5(CTF1):c.145-13C>T rs397516646 0.00013
NM_001384140.1(PCDH15):c.1900G>A (p.Val634Ile) rs146199636 0.00013
NM_001384474.1(LOXHD1):c.5584C>T (p.Arg1862Trp) rs201994383 0.00013
NM_001943.5(DSG2):c.545A>G (p.Asn182Ser) rs368512832 0.00013
NM_002230.4(JUP):c.1365C>T (p.Ala455=) rs77375949 0.00013
NM_002230.4(JUP):c.545C>T (p.Ser182Leu) rs145592971 0.00013
NM_002471.4(MYH6):c.1252G>A (p.Val418Met) rs147606900 0.00013
NM_002473.6(MYH9):c.928A>G (p.Ile310Val) rs149789202 0.00013
NM_002834.5(PTPN11):c.1746C>T (p.Asn582=) rs397516800 0.00013
NM_002880.4(RAF1):c.94A>G (p.Ile32Val) rs372738063 0.00013
NM_003242.6(TGFBR2):c.94+16238C>T rs149757320 0.00013
NM_004415.4(DSP):c.2774G>A (p.Arg925Gln) rs139799237 0.00013
NM_004817.4(TJP2):c.3063C>T (p.Ala1021=) rs367977493 0.00013
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) rs71530923 0.00013
NM_007078.3(LDB3):c.1956C>T (p.Asp652=) rs139213290 0.00013
NM_007078.3(LDB3):c.714C>T (p.Ala238=) rs727503125 0.00013
NM_015512.5(DNAH1):c.3432C>T (p.Ser1144=) rs534534857 0.00013
NM_016239.4(MYO15A):c.1602C>T (p.Phe534=) rs547305039 0.00013
NM_016239.4(MYO15A):c.8090T>C (p.Val2697Ala) rs200451098 0.00013
NM_019109.5(ALG1):c.1187+3A>G rs369160589 0.00013
NM_022114.4(PRDM16):c.1574G>A (p.Arg525Gln) rs373011563 0.00013
NM_022124.6(CDH23):c.1803C>G (p.Val601=) rs201024982 0.00013
NM_022124.6(CDH23):c.5722G>A (p.Val1908Ile) rs368828743 0.00013
NM_024334.3(TMEM43):c.718C>T (p.Arg240Cys) rs367910936 0.00013
NM_024422.6(DSC2):c.1788G>A (p.Ala596=) rs146161960 0.00013
NM_024422.6(DSC2):c.547C>T (p.Arg183Trp) rs368082152 0.00013
NM_030662.4(MAP2K2):c.246C>T (p.Asn82=) rs150942310 0.00013
NM_030662.4(MAP2K2):c.33G>A (p.Ala11=) rs368233443 0.00013
NM_033056.4(PCDH15):c.4677G>A (p.Lys1559=) rs375077719 0.00013
NM_033056.4(PCDH15):c.4788T>G (p.Asp1596Glu) rs200659780 0.00013
NM_033056.4(PCDH15):c.5435C>T (p.Pro1812Leu) rs139668636 0.00013
NM_057176.3(BSND):c.806G>A (p.Arg269Gln) rs199832638 0.00013
NM_080680.3(COL11A2):c.3932A>G (p.Asn1311Ser) rs727504460 0.00013
NM_133379.5(TTN):c.15768T>A (p.His5256Gln) rs138826545 0.00013
NM_170707.4(LMNA):c.1488+14C>T rs377700689 0.00013
NM_206933.4(USH2A):c.13134G>T (p.Pro4378=) rs148975669 0.00013
NM_206933.4(USH2A):c.6134A>G (p.His2045Arg) rs111033514 0.00013
NM_000038.6(APC):c.1631T>C (p.Ile544Thr) rs144056494 0.00012
NM_000038.6(APC):c.5392A>G (p.Asn1798Asp) rs200794097 0.00012
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu) rs587780600 0.00012
NM_000038.6(APC):c.6873A>T (p.Gln2291His) rs148878262 0.00012
NM_000059.4(BRCA2):c.3055C>G (p.Leu1019Val) rs55638633 0.00012
NM_000219.6(KCNE1):c.162C>T (p.Phe54=) rs17173508 0.00012
NM_000256.3(MYBPC3):c.12G>A (p.Pro4=) rs377292092 0.00012
NM_000256.3(MYBPC3):c.2487G>T (p.Leu829=) rs201040413 0.00012
NM_000256.3(MYBPC3):c.2614G>A (p.Glu872Lys) rs190765116 0.00012
NM_000257.4(MYH7):c.240C>T (p.Asn80=) rs200493975 0.00012
NM_000258.3(MYL3):c.4G>C (p.Ala2Pro) rs148310342 0.00012
NM_000260.4(MYO7A):c.4441+7C>T rs372493678 0.00012
NM_000337.6(SGCD):c.451T>G (p.Ser151Ala) rs121909298 0.00012
NM_000365.6(TPI1):c.315G>C (p.Glu105Asp) rs121964845 0.00012
NM_001005242.3(PKP2):c.1379-2005A>G rs397516995 0.00012
NM_001009944.3(PKD1):c.10315C>T (p.Arg3439Trp) rs374486955 0.00012
NM_001080476.3(GRXCR1):c.753C>T (p.Ser251=) rs374667597 0.00012
NM_001080476.3(GRXCR1):c.825G>A (p.Thr275=) rs370629848 0.00012
NM_001105206.3(LAMA4):c.5270C>T (p.Pro1757Leu) rs200177134 0.00012
NM_001128840.3(CACNA1D):c.5417A>G (p.Tyr1806Cys) rs369626956 0.00012
NM_001134363.3(RBM20):c.1027C>T (p.His343Tyr) rs112226602 0.00012
NM_001145809.2(MYH14):c.5876G>A (p.Arg1959Gln) rs200878464 0.00012
NM_001243133.2(NLRP3):c.1079T>A (p.Leu360Gln) rs201593863 0.00012
NM_001267550.2(TTN):c.102156G>T (p.Arg34052=) rs376894729 0.00012
NM_001267550.2(TTN):c.12653T>C (p.Ile4218Thr) rs374631591 0.00012
NM_001267550.2(TTN):c.1399-3C>T rs397517486 0.00012
NM_001267550.2(TTN):c.14813T>C (p.Phe4938Ser) rs560537668 0.00012
NM_001267550.2(TTN):c.17818T>C (p.Cys5940Arg) rs374882815 0.00012
NM_001267550.2(TTN):c.18816T>C (p.Ile6272=) rs146219199 0.00012
NM_001267550.2(TTN):c.204C>T (p.Pro68=) rs201089861 0.00012
NM_001267550.2(TTN):c.24505+13C>T rs534803807 0.00012
NM_001267550.2(TTN):c.25126C>T (p.Pro8376Ser) rs375209098 0.00012
NM_001267550.2(TTN):c.33796C>T (p.Pro11266Ser) rs201120871 0.00012
NM_001267550.2(TTN):c.39045G>C (p.Val13015=) rs192464868 0.00012
NM_001267550.2(TTN):c.39430G>A (p.Val13144Ile) rs374394719 0.00012
NM_001267550.2(TTN):c.40973A>G (p.Lys13658Arg) rs184713215 0.00012
NM_001267550.2(TTN):c.43244G>A (p.Ser14415Asn) rs370342831 0.00012
NM_001267550.2(TTN):c.5198C>T (p.Thr1733Met) rs367700246 0.00012
NM_001267550.2(TTN):c.54321A>G (p.Ala18107=) rs368021072 0.00012
NM_001267550.2(TTN):c.55378A>G (p.Thr18460Ala) rs727503600 0.00012
NM_001267550.2(TTN):c.66917T>C (p.Ile22306Thr) rs397517667 0.00012
NM_001267550.2(TTN):c.69338G>A (p.Arg23113Gln) rs370890454 0.00012
NM_001267550.2(TTN):c.71373T>G (p.Leu23791=) rs56245285 0.00012
NM_001267550.2(TTN):c.81464T>C (p.Ile27155Thr) rs397517720 0.00012
NM_001267550.2(TTN):c.81671A>G (p.Asn27224Ser) rs368443217 0.00012
NM_001267550.2(TTN):c.82497C>T (p.Thr27499=) rs199629314 0.00012
NM_001267550.2(TTN):c.90227C>T (p.Thr30076Met) rs201998913 0.00012
NM_001292063.2(OTOG):c.2080+5G>C rs765790706 0.00012
NM_001298.3(CNGA3):c.1669G>A (p.Gly557Arg) rs104893615 0.00012
NM_001330691.3(CEP78):c.491G>A (p.Gly164Asp) rs200752089 0.00012
NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys) rs80338856 0.00012
NM_001378454.1(ALMS1):c.2665A>G (p.Ile889Val) rs377282102 0.00012
NM_002230.4(JUP):c.1959C>T (p.Ser653=) rs375451560 0.00012
NM_002473.6(MYH9):c.5709C>T (p.Ala1903=) rs145444485 0.00012
NM_002880.4(RAF1):c.1721A>G (p.Tyr574Cys) rs370242565 0.00012
NM_004100.5(EYA4):c.1739-64G>A rs143208937 0.00012
NM_004333.6(BRAF):c.968C>T (p.Ser323Leu) rs397516907 0.00012
NM_005159.5(ACTC1):c.1092C>T (p.Tyr364=) rs140261885 0.00012
NM_005228.5(EGFR):c.2166G>A (p.Ala722=) rs367694667 0.00012
NM_005373.3(MPL):c.391+5G>C rs752453717 0.00012
NM_006005.3(WFS1):c.1395C>T (p.Ala465=) rs71530905 0.00012
NM_006005.3(WFS1):c.728C>T (p.Ala243Val) rs147147660 0.00012
NM_006383.4(CIB2):c.192G>A (p.Glu64=) rs145415848 0.00012
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala) rs80357467 0.00012
NM_014000.3(VCL):c.2796T>C (p.Asp932=) rs140308982 0.00012
NM_016599.5(MYOZ2):c.76+10A>G rs372006344 0.00012
NM_016929.5(CLIC5):c.739C>T (p.Arg247Cys) rs202022202 0.00012
NM_021116.4(ADCY1):c.2338G>A (p.Val780Ile) rs140746527 0.00012
NM_030662.4(MAP2K2):c.581-8G>A rs369262004 0.00012
NM_032119.4(ADGRV1):c.12476A>C (p.His4159Pro) rs200805176 0.00012
NM_080680.3(COL11A2):c.1287C>T (p.Gly429=) rs549704545 0.00012
NM_080680.3(COL11A2):c.4291C>T (p.Arg1431Trp) rs369126897 0.00012
NM_080680.3(COL11A2):c.889G>A (p.Gly297Ser) rs139116571 0.00012
NM_144991.3(TSPEAR):c.1528C>T (p.Arg510Ter) rs201663789 0.00012
NM_194248.3(OTOF):c.2523+5G>A rs201745796 0.00012
NM_000169.3(GLA):c.48T>G (p.Leu16=) rs201449986 0.00011
NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys) rs17217723 0.00011
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050 0.00011
NM_000257.4(MYH7):c.3382G>A (p.Ala1128Thr) rs199552354 0.00011
NM_000257.4(MYH7):c.345C>T (p.Tyr115=) rs149439730 0.00011
NM_000257.4(MYH7):c.4974C>T (p.Asp1658=) rs374289523 0.00011
NM_000260.4(MYO7A):c.3297C>T (p.Pro1099=) rs367668576 0.00011
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val) rs372030650 0.00011
NM_000335.5(SCN5A):c.1152C>T (p.Ser384=) rs372970828 0.00011
NM_000432.4(MYL2):c.33G>A (p.Gly11=) rs199742269 0.00011
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln) rs111033205 0.00011
NM_000487.6(ARSA):c.869G>A (p.Arg290His) rs199476355 0.00011
NM_000503.6(EYA1):c.865G>T (p.Asp289Tyr) rs201504674 0.00011
NM_000531.6(OTC):c.140A>C (p.Asn47Thr) rs67939655 0.00011
NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter) rs12118058 0.00011
NM_000891.3(KCNJ2):c.616G>A (p.Gly206Ser) rs141035459 0.00011
NM_001018005.2(TPM1):c.726G>A (p.Ala242=) rs200484871 0.00011
NM_001035.3(RYR2):c.9655G>A (p.Val3219Met) rs371147744 0.00011
NM_001039213.4(CEACAM16):c.527G>A (p.Arg176His) rs746541677 0.00011
NM_001105206.3(LAMA4):c.1999G>T (p.Asp667Tyr) rs397516720 0.00011
NM_001134363.3(RBM20):c.1275+8G>T rs727505318 0.00011
NM_001145809.2(MYH14):c.3304C>T (p.Arg1102Trp) rs397516629 0.00011
NM_001171.6(ABCC6):c.3941G>A (p.Arg1314Gln) rs63751086 0.00011
NM_001199799.2(ILDR1):c.972C>T (p.Val324=) rs138334785 0.00011
NM_001267550.2(TTN):c.102737G>A (p.Arg34246His) rs372716177 0.00011
NM_001267550.2(TTN):c.106121T>A (p.Phe35374Tyr) rs727504609 0.00011
NM_001267550.2(TTN):c.1213G>A (p.Ala405Thr) rs112266780 0.00011
NM_001267550.2(TTN):c.1449C>T (p.Ala483=) rs141617218 0.00011
NM_001267550.2(TTN):c.16551G>A (p.Ser5517=) rs376037792 0.00011
NM_001267550.2(TTN):c.18379T>G (p.Cys6127Gly) rs370812788 0.00011
NM_001267550.2(TTN):c.19715-4A>G rs375009631 0.00011
NM_001267550.2(TTN):c.22090C>T (p.Arg7364Trp) rs397517500 0.00011
NM_001267550.2(TTN):c.25065G>A (p.Ala8355=) rs397517514 0.00011
NM_001267550.2(TTN):c.35037G>A (p.Pro11679=) rs369095270 0.00011
NM_001267550.2(TTN):c.4261C>T (p.Arg1421Trp) rs144672482 0.00011
NM_001267550.2(TTN):c.45247C>T (p.Arg15083Trp) rs199834143 0.00011
NM_001267550.2(TTN):c.48353A>G (p.Asp16118Gly) rs376273101 0.00011
NM_001267550.2(TTN):c.51437-9G>A rs183060991 0.00011
NM_001267550.2(TTN):c.57073G>A (p.Val19025Ile) rs181957743 0.00011
NM_001267550.2(TTN):c.65746C>T (p.Arg21916Trp) rs200155485 0.00011
NM_001267550.2(TTN):c.68161G>A (p.Glu22721Lys) rs374492812 0.00011
NM_001267550.2(TTN):c.70651C>T (p.Leu23551=) rs72646889 0.00011
NM_001267550.2(TTN):c.73334C>T (p.Thr24445Ile) rs377334665 0.00011
NM_001267550.2(TTN):c.73770T>C (p.Tyr24590=) rs201380749 0.00011
NM_001267550.2(TTN):c.76673A>T (p.Asp25558Val) rs201095164 0.00011
NM_001267550.2(TTN):c.81856G>A (p.Val27286Ile) rs372784067 0.00011
NM_001267550.2(TTN):c.88123C>T (p.Arg29375Cys) rs368439674 0.00011
NM_001267550.2(TTN):c.88510G>A (p.Asp29504Asn) rs376679796 0.00011
NM_001267550.2(TTN):c.92677A>G (p.Lys30893Glu) rs370541682 0.00011
NM_001267550.2(TTN):c.9811T>G (p.Ser3271Ala) rs556720151 0.00011
NM_001267550.2(TTN):c.98556T>C (p.Gly32852=) rs373853269 0.00011
NM_001267550.2(TTN):c.98809A>G (p.Lys32937Glu) rs200544701 0.00011
NM_001379180.1(ESRRB):c.876C>T (p.Asp292=) rs201417586 0.00011
NM_001927.4(DES):c.665G>A (p.Arg222His) rs367961979 0.00011
NM_001943.5(DSG2):c.1478A>G (p.Asn493Ser) rs375679311 0.00011
NM_002471.4(MYH6):c.1410C>T (p.Asp470=) rs139886074 0.00011
NM_002473.6(MYH9):c.1980G>A (p.Thr660=) rs200975323 0.00011
NM_002473.6(MYH9):c.4247C>T (p.Thr1416Met) rs758626716 0.00011
NM_002473.6(MYH9):c.5277C>T (p.Ile1759=) rs183105164 0.00011
NM_002834.5(PTPN11):c.558G>T (p.Arg186=) rs200920312 0.00011
NM_004415.4(DSP):c.3646A>G (p.Ile1216Val) rs199795359 0.00011
NM_004415.4(DSP):c.5744G>A (p.Arg1915His) rs146617683 0.00011
NM_004415.4(DSP):c.6799A>T (p.Thr2267Ser) rs181378432 0.00011
NM_004612.4(TGFBR1):c.120C>T (p.Leu40=) rs201267786 0.00011
NM_005188.4(CBL):c.2359C>T (p.Arg787Cys) rs143132980 0.00011
NM_005343.4(HRAS):c.330C>T (p.Pro110=) rs200747280 0.00011
NM_005379.4(MYO1A):c.92G>A (p.Arg31His) rs727504447 0.00011
NM_005422.4(TECTA):c.4085G>A (p.Trp1362Ter) rs199638531 0.00011
NM_005422.4(TECTA):c.915C>T (p.Cys305=) rs367974065 0.00011
NM_005633.4(SOS1):c.3357C>T (p.Thr1119=) rs373319212 0.00011
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300 0.00011
NM_007294.4(BRCA1):c.693G>A (p.Thr231=) rs62625298 0.00011
NM_014625.4(NPHS2):c.868G>A (p.Val290Met) rs200482683 0.00011
NM_015141.4(GPD1L):c.839C>T (p.Ala280Val) rs72552291 0.00011
NM_015404.4(WHRN):c.2112G>T (p.Leu704=) rs535492772 0.00011
NM_015404.4(WHRN):c.998G>A (p.Ser333Asn) rs200073414 0.00011
NM_016239.4(MYO15A):c.8183G>A (p.Arg2728His) rs184435771 0.00011
NM_016239.4(MYO15A):c.9861C>T (p.Gly3287=) rs372466080 0.00011
NM_020549.5(CHAT):c.406G>A (p.Val136Met) rs201479289 0.00011
NM_020975.6(RET):c.1522+35C>T rs377130948 0.00011
NM_022114.4(PRDM16):c.1709C>T (p.Thr570Met) rs138655327 0.00011
NM_022124.6(CDH23):c.1227G>A (p.Ala409=) rs371212430 0.00011
NM_022124.6(CDH23):c.1450-4G>A rs374549358 0.00011
NM_030662.4(MAP2K2):c.981C>T (p.Asn327=) rs143275018 0.00011
NM_032119.4(ADGRV1):c.10323G>T (p.Gly3441=) rs373354231 0.00011
NM_032119.4(ADGRV1):c.12704A>G (p.Tyr4235Cys) rs200644004 0.00011
NM_032119.4(ADGRV1):c.13496G>A (p.Arg4499His) rs375122809 0.00011
NM_032119.4(ADGRV1):c.3269T>C (p.Ile1090Thr) rs771410054 0.00011
NM_032119.4(ADGRV1):c.5892T>C (p.Asn1964=) rs201983595 0.00011
NM_032119.4(ADGRV1):c.8651T>C (p.Val2884Ala) rs111033517 0.00011
NM_080680.3(COL11A2):c.2182A>T (p.Ile728Phe) rs188490457 0.00011
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) rs60890628 0.00011
NM_194248.3(OTOF):c.1194T>A (p.Asp398Glu) rs181805996 0.00011
NM_194248.3(OTOF):c.2512C>T (p.Leu838=) rs146139327 0.00011
NM_194248.3(OTOF):c.4951G>A (p.Asp1651Asn) rs139201321 0.00011
NM_206933.4(USH2A):c.10341C>T (p.Ala3447=) rs372015149 0.00011
NM_206933.4(USH2A):c.13478G>A (p.Arg4493His) rs138879998 0.00011
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu) rs143344549 0.00011
NM_206933.4(USH2A):c.4646G>A (p.Arg1549Gln) rs190170807 0.00011
NM_206933.4(USH2A):c.9975G>A (p.Gly3325=) rs188093326 0.00011
NM_000059.4(BRCA2):c.10045A>G (p.Thr3349Ala) rs80358387 0.00010
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097 0.00010
NM_000256.3(MYBPC3):c.450C>T (p.Pro150=) rs377520770 0.00010
NM_000256.3(MYBPC3):c.529C>T (p.Arg177Cys) rs193922385 0.00010
NM_000257.4(MYH7):c.1191G>A (p.Lys397=) rs139506719 0.00010
NM_000260.4(MYO7A):c.380T>C (p.Ile127Thr) rs41298131 0.00010
NM_000260.4(MYO7A):c.5356T>A (p.Ser1786Thr) rs374576916 0.00010
NM_000260.4(MYO7A):c.617G>A (p.Arg206His) rs781998354 0.00010
NM_000335.5(SCN5A):c.4299T>C (p.Tyr1433=) rs200556220 0.00010
NM_000335.5(SCN5A):c.5199C>T (p.Asn1733=) rs368980118 0.00010
NM_000337.6(SGCD):c.394G>A (p.Val132Ile) rs367819390 0.00010
NM_000392.5(ABCC2):c.2302C>T (p.Arg768Trp) rs56199535 0.00010
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327 0.00010
NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val) rs111033423 0.00010
NM_000441.2(SLC26A4):c.2029C>T (p.Arg677Trp) rs397516426 0.00010
NM_000441.2(SLC26A4):c.2291C>T (p.Thr764Met) rs150597240 0.00010
NM_000441.2(SLC26A4):c.796G>A (p.Asp266Asn) rs138462416 0.00010
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) rs28940298 0.00010
NM_000719.7(CACNA1C):c.5717G>A (p.Arg1906Gln) rs758166168 0.00010
NM_001005242.3(PKP2):c.826C>T (p.Pro276Ser) rs201944276 0.00010
NM_001018005.2(TPM1):c.522C>T (p.Ser174=) rs200173919 0.00010
NM_001035.3(RYR2):c.5571G>A (p.Pro1857=) rs371934582 0.00010
NM_001042702.5(PJVK):c.499C>T (p.Arg167Ter) rs118203989 0.00010
NM_001103.4(ACTN2):c.2148G>A (p.Thr716=) rs191631773 0.00010
NM_001103.4(ACTN2):c.690T>A (p.Asp230Glu) rs139489232 0.00010
NM_001105206.3(LAMA4):c.1390C>G (p.His464Asp) rs151119304 0.00010
NM_001105206.3(LAMA4):c.1551+4C>T rs201209516 0.00010
NM_001127453.2(GSDME):c.87T>A (p.Asp29Glu) rs148370267 0.00010
NM_001128840.3(CACNA1D):c.3115-3C>T rs779910083 0.00010
NM_001128840.3(CACNA1D):c.5165G>C (p.Ser1722Thr) rs759409255 0.00010
NM_001134363.3(RBM20):c.1418C>T (p.Ala473Val) rs727503387 0.00010
NM_001134363.3(RBM20):c.2761A>G (p.Ile921Val) rs397516608 0.00010
NM_001145809.2(MYH14):c.1918C>T (p.Arg640Trp) rs376267080 0.00010
NM_001243133.2(NLRP3):c.944C>T (p.Pro315Leu) rs180177462 0.00010
NM_001267550.2(TTN):c.105876G>A (p.Leu35292=) rs372521529 0.00010
NM_001267550.2(TTN):c.106788A>T (p.Thr35596=) rs369896045 0.00010
NM_001267550.2(TTN):c.106820C>T (p.Ala35607Val) rs377337528 0.00010
NM_001267550.2(TTN):c.11338G>A (p.Glu3780Lys) rs727504586 0.00010
NM_001267550.2(TTN):c.12547A>G (p.Lys4183Glu) rs201565932 0.00010
NM_001267550.2(TTN):c.12587C>A (p.Ser4196Ter) rs370912401 0.00010
NM_001267550.2(TTN):c.13090G>A (p.Val4364Met) rs201506104 0.00010
NM_001267550.2(TTN):c.1333G>A (p.Ala445Thr) rs142414432 0.00010
NM_001267550.2(TTN):c.18663A>C (p.Glu6221Asp) rs369544339 0.00010
NM_001267550.2(TTN):c.2151C>T (p.Pro717=) rs374570732 0.00010
NM_001267550.2(TTN):c.24639A>C (p.Gln8213His) rs397517510 0.00010
NM_001267550.2(TTN):c.26928G>A (p.Leu8976=) rs370973715 0.00010
NM_001267550.2(TTN):c.43G>A (p.Val15Ile) rs201857541 0.00010
NM_001267550.2(TTN):c.57478G>C (p.Val19160Leu) rs200778464 0.00010
NM_001267550.2(TTN):c.59729C>T (p.Thr19910Ile) rs369476725 0.00010
NM_001267550.2(TTN):c.63917G>A (p.Arg21306His) rs202240487 0.00010
NM_001267550.2(TTN):c.63960T>A (p.Val21320=) rs397517655 0.00010
NM_001267550.2(TTN):c.65672C>T (p.Pro21891Leu) rs397517662 0.00010
NM_001267550.2(TTN):c.67445G>A (p.Arg22482Gln) rs200146608 0.00010
NM_001267550.2(TTN):c.68165A>G (p.Asn22722Ser) rs200493270 0.00010
NM_001267550.2(TTN):c.70131A>G (p.Thr23377=) rs369503828 0.00010
NM_001267550.2(TTN):c.72302C>A (p.Thr24101Asn) rs192962624 0.00010
NM_001267550.2(TTN):c.80983G>A (p.Glu26995Lys) rs397517719 0.00010
NM_001267550.2(TTN):c.82061T>G (p.Val27354Gly) rs368023868 0.00010
NM_001267550.2(TTN):c.82754C>A (p.Ser27585Tyr) rs72648215 0.00010
NM_001267550.2(TTN):c.86471C>T (p.Thr28824Ile) rs200709344 0.00010
NM_001267550.2(TTN):c.89018G>A (p.Arg29673Gln) rs200639218 0.00010
NM_001267550.2(TTN):c.91621G>A (p.Gly30541Arg) rs200854704 0.00010
NM_001267550.2(TTN):c.91732G>A (p.Val30578Ile) rs727504672 0.00010
NM_001267550.2(TTN):c.93981C>G (p.Val31327=) rs370894846 0.00010
NM_001292063.2(OTOG):c.4984G>T (p.Gly1662Ter) rs1407028917 0.00010
NM_001378454.1(ALMS1):c.6537C>T (p.Thr2179=) rs371511963 0.00010
NM_001386795.1(DTNA):c.1086-321A>C rs191973037 0.00010
NM_001943.5(DSG2):c.2643C>T (p.Thr881=) rs180695545 0.00010
NM_002230.4(JUP):c.926A>G (p.Asn309Ser) rs140606359 0.00010
NM_002471.4(MYH6):c.1347G>T (p.Glu449Asp) rs142059069 0.00010
NM_002471.4(MYH6):c.3343-3C>A rs565446762 0.00010
NM_002473.6(MYH9):c.1149C>T (p.Thr383=) rs143974891 0.00010
NM_002880.4(RAF1):c.935T>C (p.Val312Ala) rs370243307 0.00010
NM_003280.3(TNNC1):c.210C>T (p.Gly70=) rs141505676 0.00010
NM_004447.6(EPS8):c.670G>A (p.Val224Ile) rs758506896 0.00010
NM_005188.4(CBL):c.2312A>T (p.Asp771Val) rs199788586 0.00010
NM_005228.5(EGFR):c.2457G>A (p.Val819=) rs56183713 0.00010
NM_005633.4(SOS1):c.3418T>A (p.Leu1140Ile) rs375550588 0.00010
NM_005633.4(SOS1):c.553A>G (p.Ile185Val) rs143962515 0.00010
NM_006012.4(CLPP):c.100C>T (p.Pro34Ser) rs776759641 0.00010
NM_006371.5(CRTAP):c.471+2C>A rs137853943 0.00010
NM_007078.3(LDB3):c.273G>A (p.Thr91=) rs45613039 0.00010
NM_015404.4(WHRN):c.1696G>C (p.Val566Leu) rs189654215 0.00010
NM_015404.4(WHRN):c.2384G>A (p.Arg795Gln) rs143763650 0.00010
NM_016203.4(PRKAG2):c.240C>A (p.Gly80=) rs142482217 0.00010
NM_022114.4(PRDM16):c.714C>A (p.Leu238=) rs371540074 0.00010
NM_022124.6(CDH23):c.3186C>A (p.Thr1062=) rs201589645 0.00010
NM_022124.6(CDH23):c.3480G>T (p.Met1160Ile) rs111033519 0.00010
NM_022124.6(CDH23):c.4704C>T (p.Thr1568=) rs186866326 0.00010
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn) rs111033271 0.00010
NM_024422.6(DSC2):c.1721G>A (p.Ser574Asn) rs150318400 0.00010
NM_032119.4(ADGRV1):c.10768A>T (p.Ser3590Cys) rs183319660 0.00010
NM_032119.4(ADGRV1):c.18001A>T (p.Met6001Leu) rs200530343 0.00010
NM_032119.4(ADGRV1):c.466G>A (p.Ala156Thr) rs201180985 0.00010
NM_033337.3(CAV3):c.168C>T (p.Gly56=) rs116840774 0.00010
NM_057176.3(BSND):c.457G>A (p.Asp153Asn) rs202128855 0.00010
NM_080680.3(COL11A2):c.798+38C>A rs200989046 0.00010
NM_133379.5(TTN):c.16001C>T (p.Pro5334Leu) rs151253841 0.00010
NM_133379.5(TTN):c.16075A>G (p.Met5359Val) rs372044281 0.00010
NM_133379.5(TTN):c.16394G>A (p.Arg5465Gln) rs148147002 0.00010
NM_152594.3(SPRED1):c.26A>T (p.Asp9Val) rs200157475 0.00010
NM_176787.5(PIGN):c.548_549+6del rs779636222 0.00010
NM_194248.3(OTOF):c.4642G>A (p.Glu1548Lys) rs146982209 0.00010
NM_194248.3(OTOF):c.5128A>C (p.Met1710Leu) rs368639052 0.00010
NM_206933.4(USH2A):c.12088C>T (p.Leu4030=) rs141528682 0.00010
NM_206933.4(USH2A):c.14531C>T (p.Thr4844Met) rs200570742 0.00010
NM_206933.4(USH2A):c.3139C>G (p.Leu1047Val) rs727503735 0.00010
NM_206933.4(USH2A):c.6958-5C>T rs147914083 0.00010
NM_000047.3(ARSL):c.410G>C (p.Gly137Ala) rs80338711 0.00009
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala) rs374094065 0.00009
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817 0.00009
NM_000092.5(COL4A4):c.3995C>T (p.Pro1332Leu) rs200860702 0.00009
NM_000169.3(GLA):c.865A>G (p.Ile289Val) rs140329381 0.00009
NM_000169.3(GLA):c.945C>T (p.Asp315=) rs151208856 0.00009
NM_000218.3(KCNQ1):c.328G>A (p.Val110Ile) rs199472677 0.00009
NM_000257.4(MYH7):c.2091T>C (p.Gly697=) rs140380523 0.00009
NM_000257.4(MYH7):c.2183C>T (p.Ala728Val) rs121913644 0.00009
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) rs202141173 0.00009
NM_000257.4(MYH7):c.327C>T (p.Tyr109=) rs36211408 0.00009
NM_000257.4(MYH7):c.5361A>G (p.Glu1787=) rs201171029 0.00009
NM_000260.4(MYO7A):c.3750+7G>A rs397516305 0.00009
NM_000260.4(MYO7A):c.3978C>T (p.Cys1326=) rs111033376 0.00009
NM_000260.4(MYO7A):c.6209G>A (p.Arg2070Gln) rs397516328 0.00009
NM_000335.5(SCN5A):c.2103G>A (p.Pro701=) rs564847999 0.00009
NM_000335.5(SCN5A):c.3618C>T (p.Phe1206=) rs184934308 0.00009
NM_000335.5(SCN5A):c.3724G>A (p.Asp1242Asn) rs199473599 0.00009
NM_000335.5(SCN5A):c.4783T>A (p.Phe1595Ile) rs199473278 0.00009
NM_000371.4(TTR):c.354C>T (p.Asn118=) rs11541797 0.00009
NM_000432.4(MYL2):c.359G>A (p.Arg120Gln) rs192057022 0.00009
NM_000441.2(SLC26A4):c.61A>G (p.Met21Val) rs375716219 0.00009
NM_000441.2(SLC26A4):c.841G>A (p.Val281Ile) rs727505080 0.00009
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) rs149633775 0.00009
NM_000601.6(HGF):c.270T>C (p.Asp90=) rs145598174 0.00009
NM_001037.5(SCN1B):c.457G>A (p.Asp153Asn) rs72550247 0.00009
NM_001039876.3(SYNE4):c.789A>G (p.Gln263=) rs557057979 0.00009
NM_001103.4(ACTN2):c.165C>T (p.Ala55=) rs193922634 0.00009
NM_001145809.2(MYH14):c.693C>T (p.Pro231=) rs373744231 0.00009
NM_001164508.2(NEB):c.194C>T (p.Pro65Leu) rs375909006 0.00009
NM_001199107.2(TBC1D24):c.1642G>A (p.Val548Met) rs201649140 0.00009
NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter) rs199947197 0.00009
NM_001199799.2(ILDR1):c.792G>A (p.Pro264=) rs186672543 0.00009
NM_001232.4(CASQ2):c.80C>T (p.Thr27Ile) rs773237428 0.00009
NM_001267550.2(TTN):c.101378A>T (p.Asp33793Val) rs200675195 0.00009
NM_001267550.2(TTN):c.102428T>C (p.Met34143Thr) rs397517786 0.00009
NM_001267550.2(TTN):c.13884C>T (p.Ser4628=) rs183328495 0.00009
NM_001267550.2(TTN):c.1585G>A (p.Ala529Thr) rs143030869 0.00009
NM_001267550.2(TTN):c.17183-7C>T rs371785683 0.00009
NM_001267550.2(TTN):c.17806A>G (p.Ile5936Val) rs72648945 0.00009
NM_001267550.2(TTN):c.22968C>T (p.Asn7656=) rs201904848 0.00009
NM_001267550.2(TTN):c.25563C>T (p.Gly8521=) rs556205722 0.00009
NM_001267550.2(TTN):c.25569C>T (p.Ala8523=) rs375022009 0.00009
NM_001267550.2(TTN):c.33305G>A (p.Arg11102His) rs368777046 0.00009
NM_001267550.2(TTN):c.33418+12C>A rs199772748 0.00009
NM_001267550.2(TTN):c.34192G>T (p.Val11398Phe) rs551911856 0.00009
NM_001267550.2(TTN):c.41931T>C (p.Tyr13977=) rs369128249 0.00009
NM_001267550.2(TTN):c.42978C>T (p.Tyr14326=) rs369959066 0.00009
NM_001267550.2(TTN):c.44589G>A (p.Thr14863=) rs369800903 0.00009
NM_001267550.2(TTN):c.44734C>T (p.His14912Tyr) rs766391823 0.00009
NM_001267550.2(TTN):c.47242A>C (p.Asn15748His) rs368988689 0.00009
NM_001267550.2(TTN):c.50480G>A (p.Arg16827Gln) rs138896856 0.00009
NM_001267550.2(TTN):c.50774T>C (p.Val16925Ala) rs370067597 0.00009
NM_001267550.2(TTN):c.51668G>A (p.Arg17223Gln) rs142395261 0.00009
NM_001267550.2(TTN):c.53012C>T (p.Ala17671Val) rs549478203 0.00009
NM_001267550.2(TTN):c.5314A>G (p.Ser1772Gly) rs150725992 0.00009
NM_001267550.2(TTN):c.53903G>A (p.Arg17968His) rs200100660 0.00009
NM_001267550.2(TTN):c.54068G>A (p.Arg18023Gln) rs727503603 0.00009
NM_001267550.2(TTN):c.54109C>T (p.Arg18037Trp) rs201623791 0.00009
NM_001267550.2(TTN):c.57544+7dup rs750881309 0.00009
NM_001267550.2(TTN):c.60146G>A (p.Arg20049His) rs200455644 0.00009
NM_001267550.2(TTN):c.65574T>C (p.Asn21858=) rs374858668 0.00009
NM_001267550.2(TTN):c.66086G>A (p.Arg22029His) rs72646868 0.00009
NM_001267550.2(TTN):c.68225-5T>C rs758273663 0.00009
NM_001267550.2(TTN):c.81565C>G (p.Leu27189Val) rs142391957 0.00009
NM_001267550.2(TTN):c.84965G>A (p.Arg28322His) rs373532064 0.00009
NM_001267550.2(TTN):c.89357C>T (p.Thr29786Ile) rs753966916 0.00009
NM_001267550.2(TTN):c.89515A>G (p.Ile29839Val) rs750806089 0.00009
NM_001267550.2(TTN):c.89947G>A (p.Val29983Met) rs397517746 0.00009
NM_001267550.2(TTN):c.90950T>C (p.Val30317Ala) rs759474127 0.00009
NM_001276345.2(TNNT2):c.208A>G (p.Met70Val) rs141837529 0.00009
NM_001276345.2(TNNT2):c.720-4G>T rs201753429 0.00009
NM_001276345.2(TNNT2):c.837C>T (p.Asn279=) rs376923877 0.00009
NM_001292063.2(OTOG):c.2294-7A>G rs200998174 0.00009
NM_001318895.3(FHL2):c.392G>A (p.Arg131His) rs371421189 0.00009
NM_001370259.2(MEN1):c.655-4del rs748005956 0.00009
NM_001378609.3(OTOGL):c.1940G>A (p.Trp647Ter) rs377708973 0.00009
NM_001378609.3(OTOGL):c.236-2A>G rs766564988 0.00009
NM_001378609.3(OTOGL):c.5702T>C (p.Ile1901Thr) rs775475186 0.00009
NM_001384474.1(LOXHD1):c.5458A>T (p.Thr1820Ser) rs775871086 0.00009
NM_001384474.1(LOXHD1):c.5514G>A (p.Glu1838=) rs749182319 0.00009
NM_001614.5(ACTG1):c.45C>T (p.Gly15=) rs145574149 0.00009
NM_001614.5(ACTG1):c.954C>T (p.Thr318=) rs3211110 0.00009
NM_001692.4(ATP6V1B1):c.1061-13A>G rs200724195 0.00009
NM_001927.4(DES):c.250G>A (p.Gly84Ser) rs200545412 0.00009
NM_001927.4(DES):c.642C>T (p.Asp214=) rs370239228 0.00009
NM_001943.5(DSG2):c.2096G>T (p.Ser699Ile) rs727504770 0.00009
NM_002294.3(LAMP2):c.42C>T (p.Leu14=) rs727503122 0.00009
NM_002471.4(MYH6):c.3118C>T (p.Leu1040=) rs368497504 0.00009
NM_002473.6(MYH9):c.5188C>T (p.Arg1730Cys) rs201021615 0.00009
NM_002834.5(PTPN11):c.1449T>G (p.Gly483=) rs143238917 0.00009
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408 0.00009
NM_004085.4(TIMM8A):c.15C>T (p.Ser5=) rs369736736 0.00009
NM_005379.4(MYO1A):c.2082C>G (p.Arg694=) rs189900453 0.00009
NM_005379.4(MYO1A):c.2872A>G (p.Ser958Gly) rs184810732 0.00009
NM_005422.4(TECTA):c.65-14A>G rs201171064 0.00009
NM_005633.4(SOS1):c.244A>G (p.Ile82Val) rs397517157 0.00009
NM_005633.4(SOS1):c.3322G>A (p.Asp1108Asn) rs199856844 0.00009
NM_006005.3(WFS1):c.2347T>C (p.Phe783Leu) rs71526461 0.00009
NM_006016.6(CD164):c.330C>T (p.Ser110=) rs199887608 0.00009
NM_006393.3(NEBL):c.120A>G (p.Glu40=) rs397517203 0.00009
NM_012208.4(HARS2):c.448C>T (p.Arg150Cys) rs140540222 0.00009
NM_014000.3(VCL):c.1290C>T (p.Asp430=) rs576271894 0.00009
NM_014000.3(VCL):c.2142C>T (p.Asp714=) rs373790383 0.00009
NM_014000.3(VCL):c.2799G>A (p.Ala933=) rs199507346 0.00009
NM_014000.3(VCL):c.3066C>T (p.Ile1022=) rs138619320 0.00009
NM_016203.4(PRKAG2):c.1644G>A (p.Ser548=) rs376450705 0.00009
NM_016203.4(PRKAG2):c.594G>A (p.Pro198=) rs397517276 0.00009
NM_016239.4(MYO15A):c.10154T>C (p.Val3385Ala) rs376432083 0.00009
NM_016239.4(MYO15A):c.5803C>G (p.Arg1935Gly) rs200041829 0.00009
NM_016239.4(MYO15A):c.6764+2T>A rs763975867 0.00009
NM_016239.4(MYO15A):c.8528A>G (p.Lys2843Arg) rs201542989 0.00009
NM_016239.4(MYO15A):c.8816G>A (p.Arg2939His) rs377389290 0.00009
NM_016599.5(MYOZ2):c.303G>A (p.Ser101=) rs527258961 0.00009
NM_020433.5(JPH2):c.1169+10C>T rs372219237 0.00009
NM_021803.4(IL21):c.127A>T (p.Ile43Leu) rs374097344 0.00009
NM_022114.4(PRDM16):c.3301G>A (p.Val1101Met) rs201654872 0.00009
NM_022124.6(CDH23):c.3070G>A (p.Val1024Met) rs397517319 0.00009
NM_022124.6(CDH23):c.3262G>A (p.Val1088Met) rs200632520 0.00009
NM_022124.6(CDH23):c.9238G>A (p.Ala3080Thr) rs369395479 0.00009
NM_022124.6(CDH23):c.9983G>A (p.Arg3328His) rs148475933 0.00009
NM_024334.3(TMEM43):c.271A>G (p.Ile91Val) rs144811578 0.00009
NM_024422.6(DSC2):c.23G>T (p.Gly8Val) rs794728063 0.00009
NM_030662.4(MAP2K2):c.1020C>T (p.Pro340=) rs192389729 0.00009
NM_032119.4(ADGRV1):c.10873C>G (p.Leu3625Val) rs761066341 0.00009
NM_032119.4(ADGRV1):c.12128T>C (p.Ile4043Thr) rs375632680 0.00009
NM_032119.4(ADGRV1):c.14373T>A (p.Ala4791=) rs375062187 0.00009
NM_032119.4(ADGRV1):c.16079-11C>G rs374007277 0.00009
NM_032119.4(ADGRV1):c.16874C>T (p.Ser5625Leu) rs373862154 0.00009
NM_032119.4(ADGRV1):c.8396C>T (p.Pro2799Leu) rs200179979 0.00009
NM_032119.4(ADGRV1):c.8779G>A (p.Val2927Ile) rs547397177 0.00009
NM_032119.4(ADGRV1):c.8995C>G (p.Gln2999Glu) rs200503628 0.00009
NM_032578.4(MYPN):c.2260A>C (p.Ile754Leu) rs201245117 0.00009
NM_080680.3(COL11A2):c.1666-9T>G rs181999673 0.00009
NM_133379.5(TTN):c.13589T>G (p.Ile4530Arg) rs200066725 0.00009
NM_133379.5(TTN):c.13746A>G (p.Gln4582=) rs201945197 0.00009
NM_138691.3(TMC1):c.760G>A (p.Val254Ile) rs111033497 0.00009
NM_144573.4(NEXN):c.949A>C (p.Met317Leu) rs559464457 0.00009
NM_144672.4(OTOA):c.2153A>G (p.Asp718Gly) rs767518359 0.00009
NM_144991.3(TSPEAR):c.411G>A (p.Thr137=) rs140923114 0.00009
NM_153676.4(USH1C):c.2124T>C (p.Ser708=) rs369021714 0.00009
NM_153676.4(USH1C):c.2630G>A (p.Gly877Glu) rs371856107 0.00009
NM_194248.3(OTOF):c.337T>C (p.Cys113Arg) rs146615166 0.00009
NM_206933.4(USH2A):c.10826G>T (p.Ser3609Ile) rs727504307 0.00009
NM_206933.4(USH2A):c.12332C>T (p.Ser4111Phe) rs142095945 0.00009
NM_206933.4(USH2A):c.14902G>A (p.Asp4968Asn) rs764124390 0.00009
NM_206933.4(USH2A):c.6537T>C (p.Tyr2179=) rs768759268 0.00009
NM_206933.4(USH2A):c.9401G>A (p.Arg3134Gln) rs780020144 0.00009
NM_000038.6(APC):c.6679G>T (p.Gly2227Cys) rs367905430 0.00008
NM_000179.3(MSH6):c.1474A>G (p.Met492Val) rs61754783 0.00008
NM_000249.4(MLH1):c.1742C>T (p.Pro581Leu) rs63751684 0.00008
NM_000251.3(MSH2):c.1690A>G (p.Thr564Ala) rs55778204 0.00008
NM_000256.3(MYBPC3):c.93C>T (p.Ala31=) rs397516085 0.00008
NM_000257.4(MYH7):c.3158G>A (p.Arg1053Gln) rs587782962 0.00008
NM_000257.4(MYH7):c.4293C>T (p.Asp1431=) rs45560242 0.00008
NM_000335.5(SCN5A):c.5882C>T (p.Pro1961Leu) rs199473638 0.00008
NM_000384.3(APOB):c.13288T>A (p.Ser4430Thr) rs72654426 0.00008
NM_001005242.3(PKP2):c.918C>T (p.Pro306=) rs368656084 0.00008
NM_001035.3(RYR2):c.3721G>A (p.Val1241Ile) rs185715460 0.00008
NM_001035.3(RYR2):c.684C>T (p.Leu228=) rs72549417 0.00008
NM_001035.3(RYR2):c.7608T>C (p.Ala2536=) rs367987360 0.00008
NM_001035.3(RYR2):c.9619A>G (p.Asn3207Asp) rs372601642 0.00008
NM_001079866.2(BCS1L):c.547C>T (p.Arg183Cys) rs144885874 0.00008
NM_001105206.3(LAMA4):c.4405G>A (p.Ala1469Thr) rs727504595 0.00008
NM_001134363.3(RBM20):c.849C>T (p.Tyr283=) rs187423999 0.00008
NM_001145809.2(MYH14):c.3778G>A (p.Gly1260Ser) rs200272339 0.00008
NM_001199107.2(TBC1D24):c.1425C>T (p.Pro475=) rs370869383 0.00008
NM_001267550.2(TTN):c.103524C>T (p.Val34508=) rs587780985 0.00008
NM_001267550.2(TTN):c.105416C>T (p.Thr35139Ile) rs200782068 0.00008
NM_001267550.2(TTN):c.12181G>A (p.Ala4061Thr) rs397517829 0.00008
NM_001267550.2(TTN):c.13520T>C (p.Met4507Thr) rs191968963 0.00008
NM_001267550.2(TTN):c.2776-14T>C rs201611946 0.00008
NM_001267550.2(TTN):c.31071C>T (p.His10357=) rs368973334 0.00008
NM_001267550.2(TTN):c.47860G>A (p.Ala15954Thr) rs377037421 0.00008
NM_001267550.2(TTN):c.55396G>A (p.Gly18466Arg) rs772677752 0.00008
NM_001267550.2(TTN):c.68097G>C (p.Gln22699His) rs727504520 0.00008
NM_001267550.2(TTN):c.92806G>A (p.Val30936Ile) rs200476500 0.00008
NM_001267550.2(TTN):c.99668G>A (p.Arg33223His) rs369081242 0.00008
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) rs201540674 0.00008
NM_001354604.2(MITF):c.537C>T (p.Asn179=) rs150591206 0.00008
NM_001384140.1(PCDH15):c.92-10C>T rs202223952 0.00008
NM_001849.4(COL6A2):c.1970-9G>A rs747900252 0.00008
NM_002471.4(MYH6):c.1154C>T (p.Ser385Leu) rs778319108 0.00008
NM_002473.6(MYH9):c.5338C>T (p.Arg1780Trp) rs527571090 0.00008
NM_002473.6(MYH9):c.5694C>T (p.Arg1898=) rs559732738 0.00008
NM_004004.6(GJB2):c.283G>A (p.Val95Met) rs111033299 0.00008
NM_004333.6(BRAF):c.375T>G (p.Ser125=) rs201507202 0.00008
NM_004614.5(TK2):c.416C>T (p.Ala139Val) rs281865494 0.00008
NM_005142.3(CBLIF):c.137C>T (p.Ser46Leu) rs121434322 0.00008
NM_005159.5(ACTC1):c.165C>T (p.Tyr55=) rs149432225 0.00008
NM_005422.4(TECTA):c.3511G>A (p.Val1171Met) rs186780639 0.00008
NM_006269.2(RP1):c.5797C>T (p.Arg1933Ter) rs118031911 0.00008
NM_014000.3(VCL):c.3333T>C (p.Ala1111=) rs147415627 0.00008
NM_016239.4(MYO15A):c.4038+6_4038+7del rs1491110483 0.00008
NM_016239.4(MYO15A):c.4777G>A (p.Glu1593Lys) rs376469502 0.00008
NM_020297.4(ABCC9):c.3993C>T (p.His1331=) rs377704379 0.00008
NM_020975.6(RET):c.2081G>A (p.Arg694Gln) rs141185224 0.00008
NM_021167.5(GATAD1):c.558G>A (p.Thr186=) rs141932124 0.00008
NM_022124.6(CDH23):c.3397G>A (p.Glu1133Lys) rs111033509 0.00008
NM_022124.6(CDH23):c.5442C>T (p.Ile1814=) rs373768157 0.00008
NM_024334.3(TMEM43):c.428C>T (p.Thr143Met) rs544554435 0.00008
NM_030662.4(MAP2K2):c.853G>A (p.Asp285Asn) rs150369301 0.00008
NM_032119.4(ADGRV1):c.17342A>G (p.Gln5781Arg) rs369717492 0.00008
NM_032122.5(DTNBP1):c.790A>G (p.Thr264Ala) rs753618520 0.00008
NM_032520.5(GNPTG):c.758C>A (p.Ser253Ter) rs761299690 0.00008
NM_033337.3(CAV3):c.444G>A (p.Arg148=) rs376749605 0.00008
NM_033380.3(COL4A5):c.2286A>G (p.Pro762=) rs369726425 0.00008
NM_080680.3(COL11A2):c.1489C>T (p.Arg497Cys) rs752552097 0.00008
NM_133379.5(TTN):c.11809A>C (p.Lys3937Gln) rs562658562 0.00008
NM_133379.5(TTN):c.13799A>C (p.Glu4600Ala) rs200760091 0.00008
NM_138691.3(TMC1):c.2129+15T>A rs747921456 0.00008
NM_152594.3(SPRED1):c.587C>T (p.Thr196Ile) rs147474792 0.00008
NM_153676.4(USH1C):c.587G>A (p.Arg196Gln) rs397517883 0.00008
NM_170682.4(P2RX2):c.964G>A (p.Gly322Arg) rs201474543 0.00008
NM_182548.4(LHFPL5):c.411G>A (p.Ala137=) rs140326236 0.00008
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524 0.00008
NM_206933.4(USH2A):c.11008G>A (p.Glu3670Lys) rs140548353 0.00008
NM_206933.4(USH2A):c.14101G>A (p.Glu4701Lys) rs372966682 0.00008
NM_207352.4(CYP4V2):c.992A>C (p.His331Pro) rs199476197 0.00008
NM_000038.6(APC):c.7717A>G (p.Ile2573Val) rs145444830 0.00007
NM_000091.5(COL4A3):c.3476G>A (p.Arg1159His) rs145948549 0.00007
NM_000117.3(EMD):c.400-9C>T rs782061626 0.00007
NM_000195.5(HPS1):c.2066G>A (p.Arg689Gln) rs147125175 0.00007
NM_000219.6(KCNE1):c.252C>T (p.Ser84=) rs138884514 0.00007
NM_000238.4(KCNH2):c.422C>T (p.Pro141Leu) rs199472864 0.00007
NM_000249.4(MLH1):c.1379A>C (p.Glu460Ala) rs202038499 0.00007
NM_000251.3(MSH2):c.2732T>G (p.Leu911Arg) rs41295182 0.00007
NM_000251.3(MSH2):c.818T>C (p.Val273Ala) rs144288433 0.00007
NM_000256.3(MYBPC3):c.2196C>T (p.Asp732=) rs397515955 0.00007
NM_000256.3(MYBPC3):c.3107G>A (p.Arg1036His) rs374255381 0.00007
NM_000257.4(MYH7):c.114C>T (p.Phe38=) rs146210693 0.00007
NM_000257.4(MYH7):c.4618C>T (p.Leu1540=) rs368734580 0.00007
NM_000260.4(MYO7A):c.2308G>A (p.Ala770Thr) rs375253473 0.00007
NM_000260.4(MYO7A):c.287C>T (p.Thr96Met) rs781811444 0.00007
NM_000335.5(SCN5A):c.1336G>A (p.Glu446Lys) rs199473339 0.00007
NM_000363.5(TNNI3):c.373-4C>G rs2288530 0.00007
NM_000503.6(EYA1):c.890G>A (p.Arg297Gln) rs148647933 0.00007
NM_000535.7(PMS2):c.2559C>G (p.Ile853Met) rs371673459 0.00007
NM_000601.6(HGF):c.1832G>C (p.Ser611Thr) rs141774517 0.00007
NM_001105206.3(LAMA4):c.2090G>A (p.Arg697His) rs397516723 0.00007
NM_001134363.3(RBM20):c.1024C>A (p.Pro342Thr) rs876657971 0.00007
NM_001134363.3(RBM20):c.2116C>A (p.Pro706Thr) rs373797219 0.00007
NM_001134363.3(RBM20):c.2244T>G (p.Ser748=) rs727503388 0.00007
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr) rs749909863 0.00007
NM_001142800.2(EYS):c.881C>G (p.Ser294Ter) rs752683070 0.00007
NM_001199799.2(ILDR1):c.1324C>T (p.Arg442Cys) rs141559449 0.00007
NM_001243133.2(NLRP3):c.1044G>A (p.Thr348=) rs143140947 0.00007
NM_001267550.2(TTN):c.102984C>T (p.Asp34328=) rs541125667 0.00007
NM_001267550.2(TTN):c.105260C>T (p.Thr35087Met) rs397517795 0.00007
NM_001267550.2(TTN):c.14302G>A (p.Gly4768Ser) rs727503652 0.00007
NM_001267550.2(TTN):c.32035G>A (p.Val10679Ile) rs369932282 0.00007
NM_001267550.2(TTN):c.40502G>A (p.Arg13501His) rs571348685 0.00007
NM_001267550.2(TTN):c.4081A>C (p.Ile1361Leu) rs145308734 0.00007
NM_001267550.2(TTN):c.44423A>C (p.Lys14808Thr) rs374419129 0.00007
NM_001267550.2(TTN):c.53807G>A (p.Arg17936His) rs727503604 0.00007
NM_001267550.2(TTN):c.54105G>A (p.Ala18035=) rs371155050 0.00007
NM_001267550.2(TTN):c.56019T>C (p.Thr18673=) rs183047238 0.00007
NM_001267550.2(TTN):c.561G>A (p.Ser187=) rs141444282 0.00007
NM_001267550.2(TTN):c.56947G>A (p.Ala18983Thr) rs377000174 0.00007
NM_001267550.2(TTN):c.58122C>G (p.Thr19374=) rs189818369 0.00007
NM_001267550.2(TTN):c.63065G>A (p.Arg21022His) rs727503585 0.00007
NM_001267550.2(TTN):c.70172T>C (p.Ile23391Thr) rs375202101 0.00007
NM_001267550.2(TTN):c.70506G>T (p.Gly23502=) rs181702963 0.00007
NM_001267550.2(TTN):c.73994C>T (p.Thr24665Met) rs144398602 0.00007
NM_001267550.2(TTN):c.77073T>C (p.Asp25691=) rs375398118 0.00007
NM_001267550.2(TTN):c.93725G>A (p.Arg31242His) rs369899675 0.00007
NM_001267550.2(TTN):c.98243G>A (p.Arg32748His) rs397517775 0.00007
NM_001276345.2(TNNT2):c.52+7G>A rs374443596 0.00007
NM_001276345.2(TNNT2):c.762G>T (p.Glu254Asp) rs45466197 0.00007
NM_001927.4(DES):c.193G>A (p.Gly65Ser) rs397516692 0.00007
NM_001943.5(DSG2):c.3244C>G (p.Pro1082Ala) rs191300661 0.00007
NM_002230.4(JUP):c.1774-6C>T rs375016135 0.00007
NM_002230.4(JUP):c.356C>T (p.Pro119Leu) rs376123010 0.00007
NM_002230.4(JUP):c.427G>A (p.Ala143Thr) rs375788626 0.00007
NM_002230.4(JUP):c.56C>T (p.Thr19Ile) rs570878629 0.00007
NM_002473.6(MYH9):c.2719A>G (p.Thr907Ala) rs754354210 0.00007
NM_002473.6(MYH9):c.5151-4G>A rs368125656 0.00007
NM_002755.4(MAP2K1):c.292-3C>T rs55694358 0.00007
NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe) rs397516797 0.00007
NM_004006.3(DMD):c.3892G>A (p.Gly1298Arg) rs750349613 0.00007
NM_005422.4(TECTA):c.2967C>A (p.His989Gln) rs200821009 0.00007
NM_005422.4(TECTA):c.4481T>C (p.Val1494Ala) rs200544452 0.00007
NM_005548.3(KARS1):c.759T>C (p.Tyr253=) rs538215630 0.00007
NM_005633.4(SOS1):c.1854C>T (p.Tyr618=) rs727505181 0.00007
NM_005633.4(SOS1):c.3269C>T (p.Pro1090Leu) rs730881034 0.00007
NM_006005.3(WFS1):c.21G>T (p.Pro7=) rs372928810 0.00007
NM_006005.3(WFS1):c.342C>T (p.Ala114=) rs201151892 0.00007
NM_006005.3(WFS1):c.792C>G (p.Phe264Leu) rs373669861 0.00007
NM_006231.4(POLE):c.5278G>A (p.Val1760Met) rs373272795 0.00007
NM_006329.4(FBLN5):c.224T>C (p.Val75Ala) rs145108467 0.00007
NM_007294.4(BRCA1):c.1865C>T (p.Ala622Val) rs56039126 0.00007
NM_013296.5(GPSM2):c.57-10A>G rs184863735 0.00007
NM_015404.4(WHRN):c.1716C>T (p.Thr572=) rs760471578 0.00007
NM_016239.4(MYO15A):c.8050T>C (p.Tyr2684His) rs376351191 0.00007
NM_016239.4(MYO15A):c.9982A>C (p.Ser3328Arg) rs376470294 0.00007
NM_021116.4(ADCY1):c.1983+10T>A rs12721475 0.00007
NM_022124.6(CDH23):c.5009T>A (p.Val1670Asp) rs397517333 0.00007
NM_022124.6(CDH23):c.996G>A (p.Thr332=) rs727504715 0.00007
NM_024009.3(GJB3):c.340G>A (p.Ala114Thr) rs199689484 0.00007
NM_032119.4(ADGRV1):c.10614A>G (p.Gln3538=) rs182626712 0.00007
NM_032119.4(ADGRV1):c.9466A>G (p.Ile3156Val) rs372484022 0.00007
NM_032229.3(SLITRK6):c.1029T>C (p.Leu343=) rs200156618 0.00007
NM_033337.3(CAV3):c.204C>A (p.Ser68=) rs116840775 0.00007
NM_080680.3(COL11A2):c.3616C>T (p.Leu1206=) rs147576338 0.00007
NM_139319.3(SLC17A8):c.1396C>A (p.Leu466Ile) rs201180712 0.00007
NM_153676.4(USH1C):c.2004C>A (p.Pro668=) rs201586291 0.00007
NM_153676.4(USH1C):c.2591G>A (p.Arg864Gln) rs374696855 0.00007
NM_206933.4(USH2A):c.3043C>T (p.His1015Tyr) rs142302070 0.00007
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr) rs372305287 0.00006
NM_000059.4(BRCA2):c.7057G>C (p.Gly2353Arg) rs80358935 0.00006
NM_000059.4(BRCA2):c.831T>G (p.Asn277Lys) rs28897705 0.00006
NM_000092.5(COL4A4):c.1129C>T (p.Arg377Cys) rs555143841 0.00006
NM_000138.5(FBN1):c.6834C>T (p.Pro2278=) rs397515839 0.00006
NM_000179.3(MSH6):c.1019T>C (p.Phe340Ser) rs61753793 0.00006
NM_000218.3(KCNQ1):c.1514+7G>T rs372593469 0.00006
NM_000218.3(KCNQ1):c.225T>C (p.Val75=) rs367817352 0.00006
NM_000218.3(KCNQ1):c.900A>C (p.Ala300=) rs727504769 0.00006
NM_000219.6(KCNE1):c.-3del rs397515878 0.00006
NM_000249.4(MLH1):c.1013A>G (p.Asn338Ser) rs63751467 0.00006
NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg) rs63750527 0.00006
NM_000249.4(MLH1):c.1733A>G (p.Glu578Gly) rs63751612 0.00006
NM_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys) rs573916965 0.00006
NM_000256.3(MYBPC3):c.132C>T (p.Arg44=) rs377579620 0.00006
NM_000256.3(MYBPC3):c.654+12G>A rs397516065 0.00006
NM_000257.4(MYH7):c.1000-7C>T rs200129563 0.00006
NM_000257.4(MYH7):c.115G>A (p.Val39Met) rs376160714 0.00006
NM_000257.4(MYH7):c.1322C>T (p.Thr441Met) rs121913653 0.00006
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) rs376754645 0.00006
NM_000257.4(MYH7):c.2922G>A (p.Lys974=) rs147727900 0.00006
NM_000257.4(MYH7):c.4053G>A (p.Thr1351=) rs397516200 0.00006
NM_000257.4(MYH7):c.4182C>T (p.Ala1394=) rs765895405 0.00006
NM_000260.4(MYO7A):c.3503+9C>T rs1481745974 0.00006
NM_000260.4(MYO7A):c.3856G>A (p.Ala1286Thr) rs727503328 0.00006
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln) rs397516322 0.00006
NM_000260.4(MYO7A):c.6272A>G (p.Lys2091Arg) rs781713344 0.00006
NM_000260.4(MYO7A):c.652G>A (p.Asp218Asn) rs201539845 0.00006
NM_000289.6(PFKM):c.237+1G>A rs202143236 0.00006
NM_000335.5(SCN5A):c.1734C>T (p.Pro578=) rs200868190 0.00006
NM_000335.5(SCN5A):c.3068G>A (p.Arg1023His) rs199473592 0.00006
NM_000335.5(SCN5A):c.3243G>A (p.Val1081=) rs41312407 0.00006
NM_000335.5(SCN5A):c.52C>T (p.Arg18Trp) rs199473044 0.00006
NM_000335.5(SCN5A):c.5799C>T (p.Ser1933=) rs375254452 0.00006
NM_000337.6(SGCD):c.69C>T (p.Tyr23=) rs397517923 0.00006
NM_000414.4(HSD17B4):c.1280C>T (p.Ala427Val) rs28943590 0.00006
NM_000441.2(SLC26A4):c.-4+5G>A rs727503425 0.00006
NM_000441.2(SLC26A4):c.1468A>C (p.Ile490Leu) rs200511789 0.00006
NM_000441.2(SLC26A4):c.1470C>T (p.Ile490=) rs140918297 0.00006
NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg) rs111033316 0.00006
NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile) rs397516421 0.00006
NM_000441.2(SLC26A4):c.920C>T (p.Thr307Met) rs144691257 0.00006
NM_000501.4(ELN):c.1150+1G>A rs727503030 0.00006
NM_000527.5(LDLR):c.2098G>A (p.Asp700Asn) rs375009082 0.00006
NM_000535.7(PMS2):c.1379G>A (p.Gly460Asp) rs150201462 0.00006
NM_000601.6(HGF):c.1814C>T (p.Thr605Ile) rs147075806 0.00006
NM_001005242.3(PKP2):c.1093A>G (p.Met365Val) rs143900944 0.00006
NM_001005242.3(PKP2):c.1444A>G (p.Thr482Ala) rs397516999 0.00006
NM_001018005.2(TPM1):c.27G>A (p.Gln9=) rs397516365 0.00006
NM_001018008.2(TPM1):c.695G>A (p.Arg232His) rs730881128 0.00006
NM_001035.3(RYR2):c.1518C>T (p.His506=) rs372620246 0.00006
NM_001035.3(RYR2):c.1612+13A>G rs368200572 0.00006
NM_001035.3(RYR2):c.9672C>T (p.Ser3224=) rs370740528 0.00006
NM_001103.4(ACTN2):c.1794G>A (p.Pro598=) rs137890030 0.00006
NM_001103.4(ACTN2):c.354C>T (p.Gly118=) rs539250948 0.00006
NM_001105206.3(LAMA4):c.228G>A (p.Ser76=) rs200589775 0.00006
NM_001105206.3(LAMA4):c.3834G>A (p.Gly1278=) rs141988342 0.00006
NM_001134363.3(RBM20):c.3574-7T>G rs397516616 0.00006
NM_001134363.3(RBM20):c.774G>A (p.Ser258=) rs569846404 0.00006
NM_001145809.2(MYH14):c.2334C>A (p.Leu778=) rs190941610 0.00006
NM_001145809.2(MYH14):c.565C>T (p.Arg189Cys) rs200818171 0.00006
NM_001164508.2(NEB):c.23742+2T>C rs545937015 0.00006
NM_001232.4(CASQ2):c.270C>A (p.Gly90=) rs72554056 0.00006
NM_001243133.2(NLRP3):c.1361G>A (p.Gly454Glu) rs199696688 0.00006
NM_001267550.2(TTN):c.103909C>T (p.Arg34637Trp) rs200716930 0.00006
NM_001267550.2(TTN):c.104000T>C (p.Ile34667Thr) rs727504476 0.00006
NM_001267550.2(TTN):c.104261C>T (p.Ala34754Val) rs727505020 0.00006
NM_001267550.2(TTN):c.106468T>C (p.Tyr35490His) rs199663911 0.00006
NM_001267550.2(TTN):c.107089G>C (p.Glu35697Gln) rs199531140 0.00006
NM_001267550.2(TTN):c.12558A>G (p.Pro4186=) rs72648921 0.00006
NM_001267550.2(TTN):c.12821G>A (p.Ser4274Asn) rs200348414 0.00006
NM_001267550.2(TTN):c.17821A>G (p.Ile5941Val) rs397517487 0.00006
NM_001267550.2(TTN):c.1834A>G (p.Lys612Glu) rs727505256 0.00006
NM_001267550.2(TTN):c.22077A>T (p.Gly7359=) rs202102237 0.00006
NM_001267550.2(TTN):c.22241-5T>C rs397517501 0.00006
NM_001267550.2(TTN):c.25942A>G (p.Lys8648Glu) rs188234466 0.00006
NM_001267550.2(TTN):c.26468C>T (p.Thr8823Met) rs368151971 0.00006
NM_001267550.2(TTN):c.32198-10T>C rs371121439 0.00006
NM_001267550.2(TTN):c.3295G>A (p.Val1099Met) rs368282893 0.00006
NM_001267550.2(TTN):c.33173-4G>A rs727504440 0.00006
NM_001267550.2(TTN):c.42509T>C (p.Met14170Thr) rs369623392 0.00006
NM_001267550.2(TTN):c.4709G>C (p.Gly1570Ala) rs199910114 0.00006
NM_001267550.2(TTN):c.49758T>C (p.Tyr16586=) rs72677247 0.00006
NM_001267550.2(TTN):c.52199A>C (p.Glu17400Ala) rs773027240 0.00006
NM_001267550.2(TTN):c.53002+10G>A rs370352450 0.00006
NM_001267550.2(TTN):c.53507G>A (p.Arg17836His) rs373526624 0.00006
NM_001267550.2(TTN):c.54517C>T (p.Pro18173Ser) rs766074604 0.00006
NM_001267550.2(TTN):c.55139T>C (p.Ile18380Thr) rs72646819 0.00006
NM_001267550.2(TTN):c.57586C>G (p.Leu19196Val) rs397517630 0.00006
NM_001267550.2(TTN):c.60198G>A (p.Pro20066=) rs767152563 0.00006
NM_001267550.2(TTN):c.61099C>T (p.Arg20367Trp) rs727504479 0.00006
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter) rs72646846 0.00006
NM_001267550.2(TTN):c.6420T>A (p.Asp2140Glu) rs777009984 0.00006
NM_001267550.2(TTN):c.66160+15C>T rs377288086 0.00006
NM_001267550.2(TTN):c.6713C>T (p.Thr2238Met) rs201284459 0.00006
NM_001267550.2(TTN):c.68208T>A (p.Val22736=) rs727503575 0.00006
NM_001267550.2(TTN):c.70305G>A (p.Thr23435=) rs397517684 0.00006
NM_001267550.2(TTN):c.75034C>T (p.Arg25012Trp) rs368914555 0.00006
NM_001267550.2(TTN):c.76922G>A (p.Arg25641His) rs369707906 0.00006
NM_001267550.2(TTN):c.80944T>C (p.Phe26982Leu) rs200406978 0.00006
NM_001267550.2(TTN):c.81758A>G (p.Asn27253Ser) rs529055709 0.00006
NM_001267550.2(TTN):c.83272T>C (p.Phe27758Leu) rs188323108 0.00006
NM_001267550.2(TTN):c.84652G>A (p.Gly28218Ser) rs727504693 0.00006
NM_001267550.2(TTN):c.86700C>T (p.Asn28900=) rs727504793 0.00006
NM_001267550.2(TTN):c.93131G>T (p.Gly31044Val) rs570464905 0.00006
NM_001267550.2(TTN):c.93444C>T (p.Tyr31148=) rs561739832 0.00006
NM_001267550.2(TTN):c.95078C>A (p.Ala31693Asp) rs2288326 0.00006
NM_001267550.2(TTN):c.95406A>G (p.Arg31802=) rs199652273 0.00006
NM_001267550.2(TTN):c.9674A>G (p.Asn3225Ser) rs202011992 0.00006
NM_001276345.2(TNNT2):c.295-14C>T rs747477576 0.00006
NM_001276345.2(TNNT2):c.601-8C>T rs397516475 0.00006
NM_001277115.2(DNAH11):c.6244C>T (p.Arg2082Ter) rs200693106 0.00006
NM_001292063.2(OTOG):c.5813C>T (p.Thr1938Met) rs758489218 0.00006
NM_001368067.1(LDB3):c.415G>A (p.Glu139Lys) rs374613600 0.00006
NM_001369.3(DNAH5):c.6249G>A (p.Met2083Ile) rs753614861 0.00006
NM_001376256.1(CRYM):c.761C>T (p.Ala254Val) rs727505275 0.00006
NM_001379180.1(ESRRB):c.924C>A (p.Gly308=) rs148356050 0.00006
NM_001384140.1(PCDH15):c.3807-6T>G rs727504791 0.00006
NM_001384474.1(LOXHD1):c.3936C>G (p.Leu1312=) rs533251927 0.00006
NM_001384474.1(LOXHD1):c.4376-6G>A rs369463541 0.00006
NM_001384474.1(LOXHD1):c.4740+13G>T rs570127242 0.00006
NM_001384474.1(LOXHD1):c.4741-11C>G rs181095005 0.00006
NM_001384474.1(LOXHD1):c.6539G>A (p.Gly2180Glu) rs763915229 0.00006
NM_001386795.1(DTNA):c.603+15T>C rs367772080 0.00006
NM_001393500.2(TOMT):c.123A>G (p.Ser41=) rs397516626 0.00006
NM_001927.4(DES):c.99C>T (p.Pro33=) rs774006810 0.00006
NM_002230.4(JUP):c.1909C>T (p.Arg637Cys) rs531732438 0.00006
NM_002230.4(JUP):c.530G>A (p.Arg177Gln) rs371481933 0.00006
NM_002230.4(JUP):c.762C>T (p.Leu254=) rs781805854 0.00006
NM_002471.4(MYH6):c.1702C>T (p.Arg568Cys) rs149650190 0.00006
NM_002471.4(MYH6):c.3787G>A (p.Val1263Met) rs375819633 0.00006
NM_002471.4(MYH6):c.4245A>G (p.Ser1415=) rs779697115 0.00006
NM_002471.4(MYH6):c.4525+13T>C rs397516770 0.00006
NM_002473.6(MYH9):c.4050G>C (p.Glu1350Asp) rs375955867 0.00006
NM_002473.6(MYH9):c.4203C>T (p.His1401=) rs539186034 0.00006
NM_002485.5(NBN):c.127C>T (p.Arg43Ter) rs200287925 0.00006
NM_002691.4(POLD1):c.2326C>T (p.Arg776Trp) rs780138978 0.00006
NM_002700.3(POU4F3):c.120+8G>A rs188019440 0.00006
NM_002834.5(PTPN11):c.1682C>T (p.Pro561Leu) rs141140214 0.00006
NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg) rs397516805 0.00006
NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro) rs104894205 0.00006
NM_003476.5(CSRP3):c.16G>A (p.Gly6Arg) rs185980145 0.00006
NM_003673.4(TCAP):c.132C>T (p.Asp44=) rs397516861 0.00006
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp) rs376898963 0.00006
NM_004183.4(BEST1):c.602T>C (p.Ile201Thr) rs199529046 0.00006
NM_004281.4(BAG3):c.-4C>T rs727502894 0.00006
NM_004281.4(BAG3):c.400T>A (p.Ser134Thr) rs375257731 0.00006
NM_004281.4(BAG3):c.785C>T (p.Ala262Val) rs397516883 0.00006
NM_004333.6(BRAF):c.1084C>A (p.Arg362=) rs397516885 0.00006
NM_004415.4(DSP):c.5417C>G (p.Thr1806Ser) rs149773722 0.00006
NM_004415.4(DSP):c.8268A>C (p.Ile2756=) rs397516963 0.00006
NM_004568.6(SERPINB6):c.379G>A (p.Val127Ile) rs146252067 0.00006
NM_004820.5(CYP7B1):c.1250G>A (p.Arg417His) rs121908611 0.00006
NM_004985.5(KRAS):c.451-5560T>A rs373169526 0.00006
NM_005228.5(EGFR):c.2369C>T (p.Thr790Met) rs121434569 0.00006
NM_005422.4(TECTA):c.1621G>A (p.Val541Met) rs370652301 0.00006
NM_005422.4(TECTA):c.6401C>T (p.Thr2134Met) rs372282487 0.00006
NM_005633.4(SOS1):c.929G>A (p.Arg310His) rs143481916 0.00006
NM_006005.3(WFS1):c.1392C>T (p.Thr464=) rs565697340 0.00006
NM_006005.3(WFS1):c.1886G>A (p.Arg629Gln) rs146670741 0.00006
NM_006005.3(WFS1):c.2359G>A (p.Ala787Thr) rs571946670 0.00006
NM_006005.3(WFS1):c.449C>T (p.Ala150Val) rs113651985 0.00006
NM_006393.3(NEBL):c.2346+6G>A rs201822024 0.00006
NM_007078.3(LDB3):c.1697T>G (p.Met566Arg) rs566463138 0.00006
NM_007078.3(LDB3):c.689+9C>T rs727503124 0.00006
NM_007294.4(BRCA1):c.3640G>A (p.Glu1214Lys) rs80356923 0.00006
NM_014391.3(ANKRD1):c.150C>G (p.Ala50=) rs147484763 0.00006
NM_015340.4(LARS2):c.763G>A (p.Ala255Thr) rs201911936 0.00006
NM_016203.4(PRKAG2):c.130G>A (p.Ala44Thr) rs144857453 0.00006
NM_016239.4(MYO15A):c.4198G>A (p.Val1400Met) rs749136456 0.00006
NM_016239.4(MYO15A):c.4484C>T (p.Thr1495Met) rs760534158 0.00006
NM_016239.4(MYO15A):c.467T>C (p.Val156Ala) rs761670755 0.00006
NM_016239.4(MYO15A):c.4769A>G (p.Tyr1590Cys) rs191828237 0.00006
NM_016239.4(MYO15A):c.4848C>G (p.Phe1616Leu) rs368430972 0.00006
NM_016239.4(MYO15A):c.5867G>A (p.Arg1956Gln) rs769596933 0.00006
NM_016239.4(MYO15A):c.5893C>T (p.Arg1965Cys) rs374485649 0.00006
NM_016239.4(MYO15A):c.8239G>A (p.Asp2747Asn) rs374160194 0.00006
NM_016239.4(MYO15A):c.8714-1G>A rs377015931 0.00006
NM_016239.4(MYO15A):c.9436C>T (p.His3146Tyr) rs201230033 0.00006
NM_016366.3(CABP2):c.345C>A (p.Thr115=) rs376093439 0.00006
NM_020297.4(ABCC9):c.3668C>T (p.Thr1223Met) rs137907278 0.00006
NM_022124.6(CDH23):c.1867G>A (p.Val623Ile) rs143782870 0.00006
NM_022124.6(CDH23):c.3331G>A (p.Val1111Ile) rs397517321 0.00006
NM_022124.6(CDH23):c.460G>A (p.Val154Met) rs199741966 0.00006
NM_022124.6(CDH23):c.6050-15G>A rs373838930 0.00006
NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln) rs201434373 0.00006
NM_022124.6(CDH23):c.7362G>A (p.Thr2454=) rs370983472 0.00006
NM_024422.6(DSC2):c.1091T>G (p.Val364Gly) rs368089478 0.00006
NM_032119.4(ADGRV1):c.13228G>A (p.Glu4410Lys) rs371970388 0.00006
NM_032119.4(ADGRV1):c.13600A>G (p.Met4534Val) rs761667882 0.00006
NM_032119.4(ADGRV1):c.13772C>T (p.Thr4591Ile) rs369108080 0.00006
NM_032119.4(ADGRV1):c.14405G>A (p.Arg4802Gln) rs534266547 0.00006
NM_032119.4(ADGRV1):c.17920G>T (p.Ala5974Ser) rs397517427 0.00006
NM_032119.4(ADGRV1):c.9366A>G (p.Thr3122=) rs200412477 0.00006
NM_032119.4(ADGRV1):c.9918A>G (p.Ile3306Met) rs1264693693 0.00006
NM_033337.3(CAV3):c.39C>T (p.Ile13=) rs200562715 0.00006
NM_033409.4(SLC52A3):c.62A>G (p.Asn21Ser) rs199588390 0.00006
NM_080680.3(COL11A2):c.3583-3C>T rs727502939 0.00006
NM_080680.3(COL11A2):c.4559G>A (p.Arg1520His) rs772567850 0.00006
NM_080680.3(COL11A2):c.4705C>T (p.Arg1569Cys) rs727504458 0.00006
NM_133379.5(TTN):c.12226G>A (p.Glu4076Lys) rs144690298 0.00006
NM_152906.7(TANGO2):c.94C>T (p.Arg32Ter) rs199801224 0.00006
NM_153676.4(USH1C):c.1678G>C (p.Ala560Pro) rs367952604 0.00006
NM_153700.2(STRC):c.4219-1G>A rs748854592 0.00006
NM_170707.4(LMNA):c.1381-6C>T rs371635492 0.00006
NM_173477.5(USH1G):c.510C>G (p.Ala170=) rs374630813 0.00006
NM_181426.2(CCDC39):c.1874G>T (p.Ser625Ile) rs769223754 0.00006
NM_194248.3(OTOF):c.2359C>T (p.Arg787Cys) rs574277214 0.00006
NM_201384.3(PLEC):c.1676G>A (p.Arg559Gln) rs376555091 0.00006
NM_206933.4(USH2A):c.1036A>C (p.Asn346His) rs369522997 0.00006
NM_206933.4(USH2A):c.1143+12C>T rs727505167 0.00006
NM_206933.4(USH2A):c.14191G>A (p.Gly4731Arg) rs148674752 0.00006
NM_206933.4(USH2A):c.15496A>G (p.Ile5166Val) rs111033419 0.00006
NM_206933.4(USH2A):c.4030A>G (p.Met1344Val) rs727503732 0.00006
NM_206933.4(USH2A):c.7475C>T (p.Ser2492Leu) rs483353056 0.00006
NM_206933.4(USH2A):c.8431C>A (p.Pro2811Thr) rs111033529 0.00006
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr) rs121912599 0.00006
NM_000046.5(ARSB):c.1450A>G (p.Arg484Gly) rs201101343 0.00005
NM_000091.5(COL4A3):c.3577G>A (p.Asp1193Asn) rs972796332 0.00005
NM_000092.5(COL4A4):c.1630C>T (p.His544Tyr) rs745815071 0.00005
NM_000092.5(COL4A4):c.928C>T (p.Arg310Trp) rs200817090 0.00005
NM_000094.4(COL7A1):c.6005G>A (p.Arg2002His) rs768326843 0.00005
NM_000138.5(FBN1):c.2927G>A (p.Arg976His) rs140954477 0.00005
NM_000219.6(KCNE1):c.-5C>A rs191334763 0.00005
NM_000219.6(KCNE1):c.30G>A (p.Thr10=) rs187686559 0.00005
NM_000219.6(KCNE1):c.315G>A (p.Ser105=) rs563859144 0.00005
NM_000238.4(KCNH2):c.2750C>T (p.Pro917Leu) rs76420733 0.00005
NM_000249.4(MLH1):c.1153C>T (p.Arg385Cys) rs63750760 0.00005
NM_000256.3(MYBPC3):c.1227-10C>T rs374673836 0.00005
NM_000256.3(MYBPC3):c.1494C>G (p.Thr498=) rs397515906 0.00005
NM_000256.3(MYBPC3):c.1790G>A (p.Arg597Gln) rs727503195 0.00005
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys) rs730880555 0.00005
NM_000256.3(MYBPC3):c.1869C>T (p.Cys623=) rs397515932 0.00005
NM_000256.3(MYBPC3):c.3003C>T (p.Pro1001=) rs397515996 0.00005
NM_000257.4(MYH7):c.1251C>G (p.Val417=) rs370628924 0.00005
NM_000257.4(MYH7):c.1323G>A (p.Thr441=) rs397516096 0.00005
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076 0.00005
NM_000257.4(MYH7):c.3273C>T (p.Asn1091=) rs200664031 0.00005
NM_000257.4(MYH7):c.5559+4C>T rs727504319 0.00005
NM_000260.4(MYO7A):c.2006G>A (p.Arg669Gln) rs201178011 0.00005
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178 0.00005
NM_000260.4(MYO7A):c.5169-6C>T rs768594224 0.00005
NM_000335.5(SCN5A):c.1735G>A (p.Gly579Arg) rs199473128 0.00005
NM_000335.5(SCN5A):c.4083G>A (p.Arg1361=) rs377173580 0.00005
NM_000414.4(HSD17B4):c.1566T>A (p.Ser522Arg) rs184492796 0.00005
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val) rs111033242 0.00005
NM_000503.6(EYA1):c.266C>T (p.Pro89Leu) rs368351103 0.00005
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly) rs367543058 0.00005
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter) rs372827156 0.00005
NM_001005242.3(PKP2):c.1372A>G (p.Ile458Val) rs199571473 0.00005
NM_001005242.3(PKP2):c.1379-2072C>T rs758950276 0.00005
NM_001005242.3(PKP2):c.725C>T (p.Thr242Met) rs201580443 0.00005
NM_001035.3(RYR2):c.594C>T (p.Asn198=) rs727504676 0.00005
NM_001103.4(ACTN2):c.1485G>A (p.Thr495=) rs201179281 0.00005
NM_001127453.2(GSDME):c.587C>T (p.Thr196Met) rs183361282 0.00005
NM_001134363.3(RBM20):c.1093G>A (p.Gly365Arg) rs201047984 0.00005
NM_001134363.3(RBM20):c.1529T>C (p.Phe510Ser) rs372567331 0.00005
NM_001145809.2(MYH14):c.3537C>T (p.Ala1179=) rs559356437 0.00005
NM_001145809.2(MYH14):c.3623C>T (p.Ala1208Val) rs758560911 0.00005
NM_001146079.2(CLDN14):c.273G>A (p.Ser91=) rs577393948 0.00005
NM_001199107.2(TBC1D24):c.1125C>T (p.His375=) rs749163517 0.00005
NM_001199799.2(ILDR1):c.1160C>G (p.Ser387Cys) rs746732835 0.00005
NM_001243133.2(NLRP3):c.207C>T (p.Ala69=) rs200082602 0.00005
NM_001267550.2(TTN):c.101506T>A (p.Cys33836Ser) rs766439271 0.00005
NM_001267550.2(TTN):c.106100C>T (p.Thr35367Met) rs377056111 0.00005
NM_001267550.2(TTN):c.11440G>A (p.Glu3814Lys) rs375103237 0.00005
NM_001267550.2(TTN):c.11842C>T (p.Arg3948Cys) rs397517827 0.00005
NM_001267550.2(TTN):c.14935+9C>T rs544241749 0.00005
NM_001267550.2(TTN):c.18778A>C (p.Lys6260Gln) rs375652574 0.00005
NM_001267550.2(TTN):c.2280C>T (p.Val760=) rs727505021 0.00005
NM_001267550.2(TTN):c.24114C>T (p.Asn8038=) rs199576800 0.00005
NM_001267550.2(TTN):c.28849G>A (p.Glu9617Lys) rs144025230 0.00005
NM_001267550.2(TTN):c.28971G>A (p.Ser9657=) rs370903846 0.00005
NM_001267550.2(TTN):c.4153G>A (p.Ala1385Thr) rs140760859 0.00005
NM_001267550.2(TTN):c.47196G>C (p.Val15732=) rs369979598 0.00005
NM_001267550.2(TTN):c.49649-11T>C rs727504474 0.00005
NM_001267550.2(TTN):c.50385T>C (p.Gly16795=) rs374672630 0.00005
NM_001267550.2(TTN):c.51739+14C>A rs727505018 0.00005
NM_001267550.2(TTN):c.54178G>A (p.Val18060Ile) rs190574498 0.00005
NM_001267550.2(TTN):c.54381+6C>G rs368265962 0.00005
NM_001267550.2(TTN):c.58017G>C (p.Leu19339Phe) rs368025965 0.00005
NM_001267550.2(TTN):c.59926C>T (p.His19976Tyr) rs727503588 0.00005
NM_001267550.2(TTN):c.60932G>A (p.Arg20311Gln) rs373062007 0.00005
NM_001267550.2(TTN):c.61289G>A (p.Cys20430Tyr) rs527704660 0.00005
NM_001267550.2(TTN):c.61992C>G (p.Asn20664Lys) rs376455983 0.00005
NM_001267550.2(TTN):c.64903C>T (p.Arg21635Cys) rs201614524 0.00005
NM_001267550.2(TTN):c.67104A>C (p.Lys22368Asn) rs727503577 0.00005
NM_001267550.2(TTN):c.70102A>G (p.Ile23368Val) rs367914610 0.00005
NM_001267550.2(TTN):c.74305A>G (p.Asn24769Asp) rs372787601 0.00005
NM_001267550.2(TTN):c.82220T>C (p.Ile27407Thr) rs376037252 0.00005
NM_001267550.2(TTN):c.86821+2T>A rs397517735 0.00005
NM_001267550.2(TTN):c.92451G>T (p.Glu30817Asp) rs397517755 0.00005
NM_001267550.2(TTN):c.95130C>A (p.Gly31710=) rs727504857 0.00005
NM_001267550.2(TTN):c.98866A>G (p.Met32956Val) rs727503538 0.00005
NM_001267550.2(TTN):c.99434G>A (p.Arg33145Gln) rs371531675 0.00005
NM_001276345.2(TNNT2):c.567C>T (p.Ser189=) rs397516474 0.00005
NM_001292063.2(OTOG):c.937C>A (p.Pro313Thr) rs777809121 0.00005
NM_001378609.3(OTOGL):c.3184A>T (p.Ile1062Phe) rs188793584 0.00005
NM_001378609.3(OTOGL):c.975del (p.Leu325fs) rs766753922 0.00005
NM_001384474.1(LOXHD1):c.4068G>A (p.Arg1356=) rs539688337 0.00005
NM_001876.4(CPT1A):c.1163+1G>A rs148059333 0.00005
NM_002294.3(LAMP2):c.158G>A (p.Arg53His) rs397516735 0.00005
NM_002471.4(MYH6):c.1582-7C>T rs374941865 0.00005
NM_002473.6(MYH9):c.2691C>T (p.Ala897=) rs148883810 0.00005
NM_002473.6(MYH9):c.3384T>C (p.Asn1128=) rs531623930 0.00005
NM_002764.4(PRPS1):c.864+10A>G rs200767443 0.00005
NM_002834.5(PTPN11):c.990A>C (p.Thr330=) rs369739920 0.00005
NM_002906.4(RDX):c.1282A>G (p.Ile428Val) rs572843421 0.00005
NM_004006.3(DMD):c.145C>T (p.Arg49Cys) rs147548697 0.00005
NM_004415.4(DSP):c.3507C>T (p.Tyr1169=) rs148894066 0.00005
NM_004415.4(DSP):c.643G>A (p.Glu215Lys) rs148095061 0.00005
NM_004415.4(DSP):c.727-10T>G rs375327581 0.00005
NM_005633.4(SOS1):c.587C>T (p.Ser196Leu) rs199898869 0.00005
NM_006231.4(POLE):c.844C>T (p.Pro282Ser) rs138207610 0.00005
NM_007078.3(LDB3):c.668C>T (p.Ser223Leu) rs375306400 0.00005
NM_007078.3(LDB3):c.793C>T (p.Arg265Cys) rs45521338 0.00005
NM_012186.3(FOXE3):c.244A>G (p.Met82Val) rs746531116 0.00005
NM_015404.4(WHRN):c.1677C>T (p.Asn559=) rs138127153 0.00005
NM_016239.4(MYO15A):c.5925G>A (p.Trp1975Ter) rs375290498 0.00005
NM_016239.4(MYO15A):c.6046+1G>A rs201978571 0.00005
NM_016239.4(MYO15A):c.8170G>A (p.Glu2724Lys) rs142465521 0.00005
NM_022124.6(CDH23):c.5481G>T (p.Gly1827=) rs375545532 0.00005
NM_024747.6(HPS6):c.455C>T (p.Ser152Leu) rs369112226 0.00005
NM_030662.4(MAP2K2):c.281C>T (p.Ser94Leu) rs202220799 0.00005
NM_031475.3(ESPN):c.2027C>G (p.Thr676Arg) rs771737095 0.00005
NM_032119.4(ADGRV1):c.5574C>A (p.Asp1858Glu) rs771317730 0.00005
NM_032119.4(ADGRV1):c.8110A>T (p.Ile2704Phe) rs376318779 0.00005
NM_033118.4(MYLK2):c.1123G>A (p.Asp375Asn) rs397517472 0.00005
NM_054012.4(ASS1):c.787G>A (p.Val263Met) rs192838388 0.00005
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys) rs372710475 0.00005
NM_144573.4(NEXN):c.865-5G>A rs727505353 0.00005
NM_147196.3(TMIE):c.366T>G (p.Asp122Glu) rs370899710 0.00005
NM_153676.4(USH1C):c.1234G>A (p.Asp412Asn) rs727503712 0.00005
NM_153676.4(USH1C):c.1597G>A (p.Ala533Thr) rs201104489 0.00005
NM_153700.2(STRC):c.4903G>T (p.Val1635Phe) rs2915791 0.00005
NM_194248.3(OTOF):c.2075G>A (p.Arg692Gln) rs147978393 0.00005
NM_194248.3(OTOF):c.3865-12G>A rs374902867 0.00005
NM_206933.4(USH2A):c.11443A>G (p.Ser3815Gly) rs149527139 0.00005
NM_206933.4(USH2A):c.1448C>T (p.Thr483Met) rs201847741 0.00005
NM_206933.4(USH2A):c.3700A>G (p.Ile1234Val) rs200276882 0.00005
NM_206933.4(USH2A):c.9110G>A (p.Arg3037His) rs533700989 0.00005
NM_000038.6(APC):c.317G>A (p.Arg106His) rs201764637 0.00004
NM_000038.6(APC):c.449A>G (p.Lys150Arg) rs371085910 0.00004
NM_000048.4(ASL):c.578G>A (p.Arg193Gln) rs373697663 0.00004
NM_000059.4(BRCA2):c.5752C>T (p.His1918Tyr) rs80358803 0.00004
NM_000059.4(BRCA2):c.9586A>G (p.Lys3196Glu) rs80359228 0.00004
NM_000138.5(FBN1):c.5442C>T (p.Asn1814=) rs397515822 0.00004
NM_000175.5(GPI):c.1336C>T (p.Arg446Ter) rs774419705 0.00004
NM_000179.3(MSH6):c.2408A>G (p.Asp803Gly) rs63751450 0.00004
NM_000238.4(KCNH2):c.2717C>T (p.Ser906Leu) rs199473435 0.00004
NM_000249.4(MLH1):c.794G>A (p.Arg265His) rs63751448 0.00004
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226 0.00004
NM_000256.3(MYBPC3):c.2149-8C>G rs397515950 0.00004
NM_000256.3(MYBPC3):c.2381C>T (p.Pro794Leu) rs730880565 0.00004
NM_000256.3(MYBPC3):c.2640C>T (p.Asp880=) rs397515980 0.00004
NM_000256.3(MYBPC3):c.3137C>T (p.Thr1046Met) rs371061770 0.00004
NM_000256.3(MYBPC3):c.540C>T (p.Gly180=) rs371842442 0.00004
NM_000256.3(MYBPC3):c.645C>T (p.Arg215=) rs397516064 0.00004
NM_000257.4(MYH7):c.12G>A (p.Ser4=) rs45561941 0.00004
NM_000257.4(MYH7):c.1405G>A (p.Asp469Asn) rs397516106 0.00004
NM_000257.4(MYH7):c.3993C>T (p.His1331=) rs200288088 0.00004
NM_000257.4(MYH7):c.4827C>T (p.Asn1609=) rs587781085 0.00004
NM_000258.3(MYL3):c.246G>A (p.Ala82=) rs368364468 0.00004
NM_000260.4(MYO7A):c.1619C>A (p.Pro540His) rs782607566 0.00004
NM_000260.4(MYO7A):c.1A>G (p.Met1Val) rs797044518 0.00004
NM_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln) rs797044516 0.00004
NM_000260.4(MYO7A):c.4018G>A (p.Ala1340Thr) rs376291076 0.00004
NM_000260.4(MYO7A):c.548C>T (p.Ser183Leu) rs781893704 0.00004
NM_000260.4(MYO7A):c.6326C>T (p.Thr2109Ile) rs377670513 0.00004
NM_000285.4(PEPD):c.1342G>A (p.Gly448Arg) rs121917724 0.00004
NM_000335.5(SCN5A):c.1195C>T (p.Leu399=) rs369253900 0.00004
NM_000335.5(SCN5A):c.53G>A (p.Arg18Gln) rs41311087 0.00004
NM_000335.5(SCN5A):c.5604C>T (p.Asp1868=) rs560476223 0.00004
NM_000335.5(SCN5A):c.677C>T (p.Ala226Val) rs199473561 0.00004
NM_000335.5(SCN5A):c.954C>T (p.Asn318=) rs372623225 0.00004
NM_000363.5(TNNI3):c.372+7C>T rs367809676 0.00004
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp) rs368861241 0.00004
NM_000363.5(TNNI3):c.6G>A (p.Ala2=) rs397516361 0.00004
NM_000371.4(TTR):c.262A>T (p.Ile88Leu) rs121918085 0.00004
NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg) rs756969021 0.00004
NM_000441.2(SLC26A4):c.697G>C (p.Val233Leu) rs397516431 0.00004
NM_000512.5(GALNS):c.740G>A (p.Gly247Asp) rs761385192 0.00004
NM_000527.5(LDLR):c.1359-5C>G rs531005522 0.00004
NM_000601.6(HGF):c.2179C>T (p.Gln727Ter) rs140790665 0.00004
NM_001005242.3(PKP2):c.1379-2102C>G rs762631031 0.00004
NM_001005242.3(PKP2):c.2001C>T (p.Ala667=) rs529442984 0.00004
NM_001005242.3(PKP2):c.2018C>T (p.Pro673Leu) rs144018320 0.00004
NM_001005242.3(PKP2):c.2233A>G (p.Ile745Val) rs551045165 0.00004
NM_001005242.3(PKP2):c.2352C>T (p.Gly784=) rs727504509 0.00004
NM_001005242.3(PKP2):c.464G>C (p.Ser155Thr) rs141438322 0.00004
NM_001018116.2(CAVIN4):c.920G>C (p.Ser307Thr) rs751703046 0.00004
NM_001035.3(RYR2):c.12207T>C (p.Cys4069=) rs756280887 0.00004
NM_001035.3(RYR2):c.294+15G>A rs750047302 0.00004
NM_001035.3(RYR2):c.345C>T (p.Tyr115=) rs397516525 0.00004
NM_001035.3(RYR2):c.385-14T>C rs372287944 0.00004
NM_001035.3(RYR2):c.4160+7A>G rs377465289 0.00004
NM_001035.3(RYR2):c.4692G>A (p.Met1564Ile) rs201675951 0.00004
NM_001035.3(RYR2):c.5923A>G (p.Met1975Val) rs200318013 0.00004
NM_001039141.3(TRIOBP):c.7010G>A (p.Arg2337Gln) rs200850285 0.00004
NM_001039876.3(SYNE4):c.106G>A (p.Ala36Thr) rs774276326 0.00004
NM_001039876.3(SYNE4):c.559C>T (p.Arg187Ter) rs750797779 0.00004
NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala) rs143836226 0.00004
NM_001048174.2(MUTYH):c.954G>A (p.Ser318=) rs372673338 0.00004
NM_001103.4(ACTN2):c.2235A>G (p.Arg745=) rs141884271 0.00004
NM_001103.4(ACTN2):c.2602G>A (p.Ala868Thr) rs143150260 0.00004
NM_001105206.3(LAMA4):c.412C>T (p.His138Tyr) rs727503113 0.00004
NM_001134363.3(RBM20):c.1338-11G>A rs372064165 0.00004
NM_001134363.3(RBM20):c.3574-6C>G rs762069628 0.00004
NM_001134363.3(RBM20):c.441C>T (p.His147=) rs397516619 0.00004
NM_001142864.4(PIEZO1):c.6380C>T (p.Thr2127Met) rs587776991 0.00004
NM_001267550.2(TTN):c.103580T>C (p.Ile34527Thr) rs370618537 0.00004
NM_001267550.2(TTN):c.103658T>C (p.Ile34553Thr) rs727505196 0.00004
NM_001267550.2(TTN):c.105719G>A (p.Arg35240Gln) rs530537991 0.00004
NM_001267550.2(TTN):c.11063T>C (p.Phe3688Ser) rs377296133 0.00004
NM_001267550.2(TTN):c.11910A>T (p.Thr3970=) rs727503660 0.00004
NM_001267550.2(TTN):c.13618G>A (p.Val4540Met) rs201046911 0.00004
NM_001267550.2(TTN):c.14189G>A (p.Arg4730Gln) rs202017278 0.00004
NM_001267550.2(TTN):c.18561G>A (p.Ala6187=) rs377556808 0.00004
NM_001267550.2(TTN):c.21003A>G (p.Lys7001=) rs727504579 0.00004
NM_001267550.2(TTN):c.21544C>T (p.Arg7182Trp) rs727504736 0.00004
NM_001267550.2(TTN):c.22386T>A (p.Asp7462Glu) rs183482849 0.00004
NM_001267550.2(TTN):c.22575T>A (p.Asp7525Glu) rs200061856 0.00004
NM_001267550.2(TTN):c.23067C>T (p.Asp7689=) rs191854953 0.00004
NM_001267550.2(TTN):c.24107C>T (p.Ser8036Leu) rs200598509 0.00004
NM_001267550.2(TTN):c.24227-15C>T rs397517505 0.00004
NM_001267550.2(TTN):c.24454G>A (p.Val8152Ile) rs397517507 0.00004
NM_001267550.2(TTN):c.27847G>A (p.Val9283Met) rs727504515 0.00004
NM_001267550.2(TTN):c.28093C>T (p.Arg9365Trp) rs190600127 0.00004
NM_001267550.2(TTN):c.28094G>A (p.Arg9365Gln) rs570608843 0.00004
NM_001267550.2(TTN):c.29230C>T (p.Arg9744Cys) rs375266859 0.00004
NM_001267550.2(TTN):c.30088C>T (p.Pro10030Ser) rs368531555 0.00004
NM_001267550.2(TTN):c.34379-14T>C rs727505341 0.00004
NM_001267550.2(TTN):c.3680A>G (p.Lys1227Arg) rs541811273 0.00004
NM_001267550.2(TTN):c.39578A>G (p.Glu13193Gly) rs190461403 0.00004
NM_001267550.2(TTN):c.43019T>C (p.Ile14340Thr) rs397517571 0.00004
NM_001267550.2(TTN):c.46386C>T (p.Cys15462=) rs147703145 0.00004
NM_001267550.2(TTN):c.46489G>T (p.Val15497Phe) rs371299188 0.00004
NM_001267550.2(TTN):c.48395G>A (p.Arg16132His) rs397517593 0.00004
NM_001267550.2(TTN):c.51483G>A (p.Ala17161=) rs397517604 0.00004
NM_001267550.2(TTN):c.5582G>A (p.Arg1861His) rs140914855 0.00004
NM_001267550.2(TTN):c.57971G>A (p.Arg19324Gln) rs186809500 0.00004
NM_001267550.2(TTN):c.58426G>A (p.Val19476Ile) rs397517636 0.00004
NM_001267550.2(TTN):c.58982G>A (p.Gly19661Asp) rs397517640 0.00004
NM_001267550.2(TTN):c.597A>G (p.Val199=) rs144214844 0.00004
NM_001267550.2(TTN):c.6162C>T (p.Ala2054=) rs143265948 0.00004
NM_001267550.2(TTN):c.63181C>T (p.Pro21061Ser) rs375401971 0.00004
NM_001267550.2(TTN):c.63463C>T (p.Arg21155Cys) rs374727686 0.00004
NM_001267550.2(TTN):c.65173G>A (p.Val21725Ile) rs368716894 0.00004
NM_001267550.2(TTN):c.65649G>T (p.Leu21883Phe) rs374736305 0.00004
NM_001267550.2(TTN):c.67147G>A (p.Gly22383Arg) rs372388682 0.00004
NM_001267550.2(TTN):c.67348+11G>C rs587780982 0.00004
NM_001267550.2(TTN):c.70748C>A (p.Thr23583Lys) rs397517687 0.00004
NM_001267550.2(TTN):c.70833G>A (p.Ala23611=) rs377220635 0.00004
NM_001267550.2(TTN):c.72488G>A (p.Arg24163His) rs374712231 0.00004
NM_001267550.2(TTN):c.73517G>A (p.Gly24506Asp) rs567446185 0.00004
NM_001267550.2(TTN):c.75969T>C (p.Val25323=) rs368759398 0.00004
NM_001267550.2(TTN):c.7619G>A (p.Arg2540His) rs397517725 0.00004
NM_001267550.2(TTN):c.78774A>G (p.Arg26258=) rs368270588 0.00004
NM_001267550.2(TTN):c.81938G>A (p.Gly27313Glu) rs199670463 0.00004
NM_001267550.2(TTN):c.82692G>A (p.Ala27564=) rs557628408 0.00004
NM_001267550.2(TTN):c.86910C>T (p.Gly28970=) rs397517736 0.00004
NM_001267550.2(TTN):c.89136C>T (p.Asn29712=) rs376289479 0.00004
NM_001267550.2(TTN):c.90786C>T (p.Ile30262=) rs727504439 0.00004
NM_001267550.2(TTN):c.94664G>A (p.Arg31555His) rs727503545 0.00004
NM_001267550.2(TTN):c.96140C>T (p.Thr32047Met) rs375640847 0.00004
NM_001267550.2(TTN):c.97396G>A (p.Glu32466Lys) rs55915651 0.00004
NM_001267550.2(TTN):c.9749T>G (p.Val3250Gly) rs55634230 0.00004
NM_001267550.2(TTN):c.98641C>T (p.Pro32881Ser) rs367979582 0.00004
NM_001276345.2(TNNT2):c.601-7G>A rs369759523 0.00004
NM_001276345.2(TNNT2):c.720-7C>T rs376303087 0.00004
NM_001289808.2(CRYAB):c.60C>T (p.Pro20=) rs4252582 0.00004
NM_001292063.2(OTOG):c.3457C>T (p.Arg1153Ter) rs772430523 0.00004
NM_001292063.2(OTOG):c.8472T>C (p.Asp2824=) rs940623349 0.00004
NM_001330691.3(CEP78):c.2107+10C>G rs374257343 0.00004
NM_001376256.1(CRYM):c.343A>G (p.Ile115Val) rs201490017 0.00004
NM_001378454.1(ALMS1):c.11463G>A (p.Glu3821=) rs750087396 0.00004
NM_001378454.1(ALMS1):c.7441G>A (p.Ala2481Thr) rs760068474 0.00004
NM_001384140.1(PCDH15):c.1141C>G (p.Leu381Val) rs373453298 0.00004
NM_001384474.1(LOXHD1):c.3061+8G>T rs764128579 0.00004
NM_001384474.1(LOXHD1):c.6339T>C (p.Asn2113=) rs181548456 0.00004
NM_001386795.1(DTNA):c.1875G>A (p.Gly625=) rs542483546 0.00004
NM_001614.5(ACTG1):c.81C>T (p.Pro27=) rs11549230 0.00004
NM_001723.7(DST):c.3370C>T (p.Gln1124Ter) rs201045495 0.00004
NM_001943.5(DSG2):c.1688T>G (p.Leu563Arg) rs780469370 0.00004
NM_001943.5(DSG2):c.1911C>T (p.Cys637=) rs201654341 0.00004
NM_001943.5(DSG2):c.2470C>T (p.Arg824Cys) rs201845396 0.00004
NM_002230.4(JUP):c.1035G>C (p.Lys345Asn) rs150194093 0.00004
NM_002230.4(JUP):c.1331G>A (p.Arg444His) rs369507567 0.00004
NM_002230.4(JUP):c.945C>T (p.Leu315=) rs146804895 0.00004
NM_002294.3(LAMP2):c.1093+2589C>T rs377303143 0.00004
NM_002294.3(LAMP2):c.517G>A (p.Val173Ile) rs141574558 0.00004
NM_002294.3(LAMP2):c.65-13T>A rs727503121 0.00004
NM_002471.4(MYH6):c.1336G>A (p.Ala446Thr) rs556536964 0.00004
NM_002473.6(MYH9):c.1686G>A (p.Leu562=) rs199506577 0.00004
NM_002473.6(MYH9):c.2714G>A (p.Arg905His) rs727503289 0.00004
NM_002473.6(MYH9):c.3214G>A (p.Ala1072Thr) rs532156048 0.00004
NM_002473.6(MYH9):c.3320G>A (p.Arg1107Gln) rs137924205 0.00004
NM_002473.6(MYH9):c.3915G>A (p.Ala1305=) rs183685723 0.00004
NM_002524.5(NRAS):c.291-8G>A rs376187980 0.00004
NM_002755.4(MAP2K1):c.439-8G>A rs747709090 0.00004
NM_003001.5(SDHC):c.490A>T (p.Met164Leu) rs200375156 0.00004
NM_003242.6(TGFBR2):c.617C>T (p.Thr206Met) rs150022335 0.00004
NM_003907.3(EIF2B5):c.271A>G (p.Thr91Ala) rs28939717 0.00004
NM_004006.3(DMD):c.1159A>G (p.Met387Val) rs770202940 0.00004
NM_004006.3(DMD):c.1503A>G (p.Glu501=) rs770464589 0.00004
NM_004006.3(DMD):c.1518G>T (p.Arg506Ser) rs755456119 0.00004
NM_004006.3(DMD):c.4275A>G (p.Glu1425=) rs72468647 0.00004
NM_004006.3(DMD):c.5208C>A (p.Asp1736Glu) rs144717862 0.00004
NM_004006.3(DMD):c.6118-13T>G rs750033728 0.00004
NM_004006.3(DMD):c.8582T>C (p.Val2861Ala) rs181284440 0.00004
NM_004086.3(COCH):c.971G>A (p.Arg324Gln) rs748731866 0.00004
NM_004230.4(S1PR2):c.955G>A (p.Gly319Arg) rs139097585 0.00004
NM_004281.4(BAG3):c.181-15C>T rs397516882 0.00004
NM_004415.4(DSP):c.264C>T (p.Ile88=) rs727502997 0.00004
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys) rs367752002 0.00004
NM_004415.4(DSP):c.5554C>T (p.Arg1852Cys) rs550818559 0.00004
NM_004415.4(DSP):c.939C>T (p.Ser313=) rs766580649 0.00004
NM_004447.6(EPS8):c.646C>G (p.Pro216Ala) rs201875630 0.00004
NM_004568.6(SERPINB6):c.460T>G (p.Ser154Ala) rs727503416 0.00004
NM_005188.4(CBL):c.2206A>G (p.Asn736Asp) rs397507497 0.00004
NM_005343.4(HRAS):c.363T>C (p.Ala121=) rs146440188 0.00004
NM_005343.4(HRAS):c.520C>T (p.Pro174Ser) rs397517144 0.00004
NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln) rs371314838 0.00004
NM_005633.4(SOS1):c.3859A>G (p.Ile1287Val) rs760917490 0.00004
NM_006005.3(WFS1):c.1237T>G (p.Phe413Val) rs71524356 0.00004
NM_006005.3(WFS1):c.1743C>T (p.Gly581=) rs377539343 0.00004
NM_006005.3(WFS1):c.375C>T (p.Thr125=) rs762324196 0.00004
NM_006231.4(POLE):c.6135C>T (p.Pro2045=) rs368662693 0.00004
NM_006393.3(NEBL):c.1108C>A (p.Gln370Lys) rs146198369 0.00004
NM_007078.3(LDB3):c.689+3861C>T rs754704023 0.00004
NM_007294.4(BRCA1):c.427G>A (p.Glu143Lys) rs80356991 0.00004
NM_007373.4(SHOC2):c.10A>C (p.Ser4Arg) rs397517231 0.00004
NM_013296.5(GPSM2):c.1492C>T (p.Arg498Ter) rs370907055 0.00004
NM_014391.3(ANKRD1):c.838A>G (p.Ile280Val) rs144770680 0.00004
NM_015404.4(WHRN):c.1417-8G>A rs202228471 0.00004
NM_015404.4(WHRN):c.2203G>A (p.Val735Ile) rs373552185 0.00004
NM_016103.4(SAR1B):c.409G>A (p.Asp137Asn) rs28942109 0.00004
NM_016203.4(PRKAG2):c.312C>T (p.Thr104=) rs397517268 0.00004
NM_016203.4(PRKAG2):c.981A>G (p.Leu327=) rs764162597 0.00004
NM_016239.4(MYO15A):c.5526C>T (p.Ile1842=) rs370047914 0.00004
NM_017780.4(CHD7):c.409T>G (p.Ser137Ala) rs183761594 0.00004
NM_022114.4(PRDM16):c.2940-15G>A rs538723120 0.00004
NM_022124.6(CDH23):c.1450-10G>A rs751220612 0.00004
NM_022124.6(CDH23):c.1584C>T (p.Arg528=) rs397517309 0.00004
NM_022124.6(CDH23):c.1665C>T (p.Asn555=) rs397517310 0.00004
NM_022124.6(CDH23):c.5713-9A>G rs397517343 0.00004
NM_022124.6(CDH23):c.6098C>T (p.Ser2033Leu) rs537971045 0.00004
NM_022124.6(CDH23):c.6138C>T (p.Ile2046=) rs568741210 0.00004
NM_024334.3(TMEM43):c.166C>T (p.Arg56Cys) rs201094625 0.00004
NM_024334.3(TMEM43):c.402C>T (p.Thr134=) rs370422391 0.00004
NM_024334.3(TMEM43):c.413A>G (p.Gln138Arg) rs397517384 0.00004
NM_024334.3(TMEM43):c.947G>C (p.Trp316Ser) rs199526104 0.00004
NM_024417.5(FDXR):c.916C>T (p.Arg306Cys) rs752143061 0.00004
NM_024422.6(DSC2):c.1552G>C (p.Val518Leu) rs397517394 0.00004
NM_024422.6(DSC2):c.2208C>T (p.Asn736=) rs727504534 0.00004
NM_024915.4(GRHL2):c.1348T>A (p.Ser450Thr) rs141136371 0.00004
NM_030662.4(MAP2K2):c.1187C>T (p.Thr396Met) rs117945277 0.00004
NM_030662.4(MAP2K2):c.93-6C>T rs727504836 0.00004
NM_032119.4(ADGRV1):c.12463C>T (p.Pro4155Ser) rs576429729 0.00004
NM_032119.4(ADGRV1):c.15145G>A (p.Ala5049Thr) rs376376418 0.00004
NM_032119.4(ADGRV1):c.4171G>A (p.Glu1391Lys) rs766007827 0.00004
NM_032119.4(ADGRV1):c.5576A>G (p.His1859Arg) rs200974394 0.00004
NM_032119.4(ADGRV1):c.6578T>C (p.Ile2193Thr) rs201999622 0.00004
NM_032119.4(ADGRV1):c.854G>A (p.Arg285His) rs397517439 0.00004
NM_032119.4(ADGRV1):c.8591C>T (p.Thr2864Met) rs397517440 0.00004
NM_032578.4(MYPN):c.3416G>A (p.Arg1139His) rs531222847 0.00004
NM_033056.4(PCDH15):c.5189T>A (p.Ile1730Asn) rs727503364 0.00004
NM_033118.4(MYLK2):c.417C>T (p.Ala139=) rs560951755 0.00004
NM_033118.4(MYLK2):c.557C>T (p.Thr186Met) rs727504591 0.00004
NM_033337.3(CAV3):c.201C>A (p.Val67=) rs201593267 0.00004
NM_080680.3(COL11A2):c.1861C>A (p.Pro621Thr) rs121912952 0.00004
NM_080680.3(COL11A2):c.4055C>T (p.Pro1352Leu) rs763995767 0.00004
NM_080680.3(COL11A2):c.544G>A (p.Val182Ile) rs375937729 0.00004
NM_133261.3(GIPC3):c.213C>A (p.Ile71=) rs876657467 0.00004
NM_133379.5(TTN):c.14526T>A (p.Asn4842Lys) rs776361113 0.00004
NM_138691.3(TMC1):c.1567-14T>G rs727503485 0.00004
NM_144573.4(NEXN):c.1065T>C (p.Asp355=) rs369897647 0.00004
NM_144573.4(NEXN):c.249G>A (p.Glu83=) rs372532824 0.00004
NM_144596.4(TTC8):c.489G>A (p.Thr163=) rs119103286 0.00004
NM_144672.4(OTOA):c.1807G>T (p.Val603Phe) rs775686301 0.00004
NM_144991.3(TSPEAR):c.1697A>G (p.Tyr566Cys) rs782088056 0.00004
NM_170707.4(LMNA):c.1376A>G (p.Asn459Ser) rs372011095 0.00004
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg) rs397517901 0.00004
NM_172351.3(CD46):c.286+2T>G rs769742294 0.00004
NM_174878.3(CLRN1):c.127G>A (p.Gly43Arg) rs111033434 0.00004
NM_174878.3(CLRN1):c.254-2054G>C rs185457278 0.00004
NM_194248.3(OTOF):c.1317T>C (p.Asn439=) rs201171459 0.00004
NM_194248.3(OTOF):c.5566C>T (p.Arg1856Trp) rs368155547 0.00004
NM_206933.4(USH2A):c.10904C>A (p.Thr3635Asn) rs727505166 0.00004
NM_206933.4(USH2A):c.11121G>T (p.Lys3707Asn) rs111033515 0.00004
NM_206933.4(USH2A):c.12275G>A (p.Arg4092Lys) rs727505170 0.00004
NM_206933.4(USH2A):c.1530C>T (p.Asp510=) rs200940197 0.00004
NM_206933.4(USH2A):c.4126T>C (p.Tyr1376His) rs374449657 0.00004
NM_206933.4(USH2A):c.5698T>G (p.Cys1900Gly) rs201026468 0.00004
NM_206933.4(USH2A):c.7494T>A (p.Ser2498Arg) rs760977747 0.00004
NM_206933.4(USH2A):c.9917G>A (p.Cys3306Tyr) rs758614136 0.00004
NM_000038.6(APC):c.5912C>G (p.Ser1971Cys) rs754691867 0.00003
NM_000038.6(APC):c.8383G>A (p.Ala2795Thr) rs369264968 0.00003
NM_000053.4(ATP7B):c.2804C>T (p.Thr935Met) rs750019452 0.00003
NM_000057.4(BLM):c.98+1G>C rs750293380 0.00003
NM_000059.4(BRCA2):c.5986G>A (p.Ala1996Thr) rs80358833 0.00003
NM_000138.5(FBN1):c.378A>G (p.Gly126=) rs149611106 0.00003
NM_000169.3(GLA):c.639+6A>C rs200096940 0.00003
NM_000169.3(GLA):c.714T>C (p.Ser238=) rs397515872 0.00003
NM_000219.6(KCNE1):c.137A>G (p.Tyr46Cys) rs1402178514 0.00003
NM_000219.6(KCNE1):c.163G>A (p.Gly55Ser) rs199473644 0.00003
NM_000246.4(CIITA):c.2888+1G>A rs372826934 0.00003
NM_000256.3(MYBPC3):c.1224-52G>A rs786204336 0.00003
NM_000256.3(MYBPC3):c.1790+7G>A rs374852831 0.00003
NM_000256.3(MYBPC3):c.1828G>C (p.Asp610His) rs371564200 0.00003
NM_000256.3(MYBPC3):c.2308+12C>T rs727505335 0.00003
NM_000256.3(MYBPC3):c.3472G>A (p.Val1158Ile) rs542350927 0.00003
NM_000256.3(MYBPC3):c.667G>A (p.Glu223Lys) rs397516069 0.00003
NM_000257.4(MYH7):c.1983C>T (p.Asn661=) rs146474860 0.00003
NM_000257.4(MYH7):c.2221G>A (p.Gly741Arg) rs121913632 0.00003
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys) rs2754158 0.00003
NM_000257.4(MYH7):c.3133C>T (p.Arg1045Cys) rs45611033 0.00003
NM_000257.4(MYH7):c.427C>T (p.Arg143Trp) rs727503278 0.00003
NM_000257.4(MYH7):c.611G>A (p.Arg204His) rs397516260 0.00003
NM_000260.4(MYO7A):c.1606G>A (p.Ala536Thr) rs201046979 0.00003
NM_000260.4(MYO7A):c.2656G>A (p.Ala886Thr) rs782726270 0.00003
NM_000260.4(MYO7A):c.358C>A (p.Arg120Ser) rs397516302 0.00003
NM_000260.4(MYO7A):c.397C>A (p.His133Asn) rs111033403 0.00003
NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn) rs111033181 0.00003
NM_000260.4(MYO7A):c.4488G>A (p.Thr1496=) rs376743356 0.00003
NM_000260.4(MYO7A):c.4619C>T (p.Ala1540Val) rs111033511 0.00003
NM_000260.4(MYO7A):c.5264C>T (p.Ala1755Val) rs574917232 0.00003
NM_000260.4(MYO7A):c.562C>G (p.Gln188Glu) rs572959359 0.00003
NM_000260.4(MYO7A):c.6439-2A>G rs397516330 0.00003
NM_000283.4(PDE6B):c.299G>A (p.Arg100His) rs555600300 0.00003
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln) rs375709098 0.00003
NM_000335.5(SCN5A):c.1188C>T (p.Val396=) rs749683415 0.00003
NM_000335.5(SCN5A):c.3879C>T (p.Ala1293=) rs372132916 0.00003
NM_000335.5(SCN5A):c.393-1C>T rs759235726 0.00003
NM_000335.5(SCN5A):c.4279G>T (p.Ala1427Ser) rs200034939 0.00003
NM_000350.3(ABCA4):c.5819T>C (p.Leu1940Pro) rs61753033 0.00003
NM_000363.5(TNNI3):c.304G>A (p.Ala102Thr) rs374618872 0.00003
NM_000395.3(CSF2RB):c.1107C>G (p.Asp369Glu) rs139685237 0.00003
NM_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe) rs375576481 0.00003
NM_000441.2(SLC26A4):c.1545-7del rs727503427 0.00003
NM_000441.2(SLC26A4):c.1740G>A (p.Lys580=) rs573894071 0.00003
NM_000441.2(SLC26A4):c.2171A>G (p.Asp724Gly) rs757820624 0.00003
NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr) rs542620119 0.00003
NM_000540.3(RYR1):c.1589G>A (p.Arg530His) rs111888148 0.00003
NM_000546.6(TP53):c.188C>G (p.Ala63Gly) rs372201428 0.00003
NM_000546.6(TP53):c.903A>G (p.Pro301=) rs72661120 0.00003
NM_000548.5(TSC2):c.429C>G (p.Phe143Leu) rs137854406 0.00003
NM_001005242.3(PKP2):c.2014-1G>C rs193922674 0.00003
NM_001005242.3(PKP2):c.611G>A (p.Arg204His) rs755215178 0.00003
NM_001010892.3(RSPH4A):c.116C>A (p.Ser39Ter) rs368110732 0.00003
NM_001018005.2(TPM1):c.375-3C>T rs202228866 0.00003
NM_001018005.2(TPM1):c.845C>G (p.Thr282Ser) rs397516395 0.00003
NM_001035.3(RYR2):c.5001T>C (p.Leu1667=) rs397516537 0.00003
NM_001039141.3(TRIOBP):c.5782A>G (p.Ile1928Val) rs781135139 0.00003
NM_001042492.3(NF1):c.*4T>C rs201044568 0.00003
NM_001042702.5(PJVK):c.212-12C>A rs199967536 0.00003
NM_001103.4(ACTN2):c.-3G>T rs201920417 0.00003
NM_001103.4(ACTN2):c.18C>T (p.Pro6=) rs368367224 0.00003
NM_001105206.3(LAMA4):c.1444A>G (p.Asn482Asp) rs782319667 0.00003
NM_001105206.3(LAMA4):c.997G>A (p.Ala333Thr) rs576711704 0.00003
NM_001142800.2(EYS):c.3243+1G>A rs1300490966 0.00003
NM_001145809.2(MYH14):c.3884G>A (p.Arg1295Gln) rs377014092 0.00003
NM_001199107.2(TBC1D24):c.116C>A (p.Ala39Glu) rs773916549 0.00003
NM_001199107.2(TBC1D24):c.951C>T (p.Thr317=) rs766745103 0.00003
NM_001267550.2(TTN):c.103913G>A (p.Arg34638His) rs371528685 0.00003
NM_001267550.2(TTN):c.103946G>A (p.Arg34649Gln) rs397517788 0.00003
NM_001267550.2(TTN):c.106827T>G (p.Ile35609Met) rs727504540 0.00003
NM_001267550.2(TTN):c.10682A>G (p.Gln3561Arg) rs727503676 0.00003
NM_001267550.2(TTN):c.11756C>A (p.Thr3919Asn) rs727503661 0.00003
NM_001267550.2(TTN):c.12103A>G (p.Met4035Val) rs727503659 0.00003
NM_001267550.2(TTN):c.1398+5G>A rs542965530 0.00003
NM_001267550.2(TTN):c.18363G>A (p.Gln6121=) rs375032616 0.00003
NM_001267550.2(TTN):c.19054A>G (p.Arg6352Gly) rs569003242 0.00003
NM_001267550.2(TTN):c.19728C>T (p.Phe6576=) rs751902051 0.00003
NM_001267550.2(TTN):c.19818A>G (p.Lys6606=) rs397517492 0.00003
NM_001267550.2(TTN):c.19922C>A (p.Thr6641Asn) rs747240394 0.00003
NM_001267550.2(TTN):c.19963G>A (p.Asp6655Asn) rs397517493 0.00003
NM_001267550.2(TTN):c.21332T>C (p.Met7111Thr) rs374408615 0.00003
NM_001267550.2(TTN):c.22942G>A (p.Glu7648Lys) rs397517502 0.00003
NM_001267550.2(TTN):c.2422C>T (p.Arg808Cys) rs149155733 0.00003
NM_001267550.2(TTN):c.24905C>A (p.Thr8302Lys) rs549604128 0.00003
NM_001267550.2(TTN):c.2605A>T (p.Thr869Ser) rs370962244 0.00003
NM_001267550.2(TTN):c.26893G>A (p.Glu8965Lys) rs200325324 0.00003
NM_001267550.2(TTN):c.27676T>C (p.Cys9226Arg) rs372820178 0.00003
NM_001267550.2(TTN):c.30444G>A (p.Ser10148=) rs367901929 0.00003
NM_001267550.2(TTN):c.32555-12G>T rs397517540 0.00003
NM_001267550.2(TTN):c.3913G>T (p.Gly1305Trp) rs199889888 0.00003
NM_001267550.2(TTN):c.44987G>A (p.Arg14996His) rs762128685 0.00003
NM_001267550.2(TTN):c.46847C>T (p.Thr15616Met) rs368057764 0.00003
NM_001267550.2(TTN):c.47978C>A (p.Thr15993Asn) rs727503622 0.00003
NM_001267550.2(TTN):c.49366C>T (p.Arg16456Cys) rs727504986 0.00003
NM_001267550.2(TTN):c.49527A>G (p.Thr16509=) rs727505248 0.00003
NM_001267550.2(TTN):c.50812G>C (p.Glu16938Gln) rs72677250 0.00003
NM_001267550.2(TTN):c.52006G>A (p.Val17336Ile) rs567781604 0.00003
NM_001267550.2(TTN):c.55269G>C (p.Lys18423Asn) rs367799017 0.00003
NM_001267550.2(TTN):c.55692T>A (p.Pro18564=) rs200864020 0.00003
NM_001267550.2(TTN):c.56403A>G (p.Gln18801=) rs553313488 0.00003
NM_001267550.2(TTN):c.5741C>T (p.Ala1914Val) rs374203813 0.00003
NM_001267550.2(TTN):c.60975C>T (p.Ile20325=) rs727505195 0.00003
NM_001267550.2(TTN):c.62030T>C (p.Ile20677Thr) rs558670891 0.00003
NM_001267550.2(TTN):c.65371G>A (p.Gly21791Ser) rs370878527 0.00003
NM_001267550.2(TTN):c.71981C>T (p.Ala23994Val) rs772886864 0.00003
NM_001267550.2(TTN):c.75734G>A (p.Arg25245Lys) rs397517701 0.00003
NM_001267550.2(TTN):c.86003T>C (p.Ile28668Thr) rs374022393 0.00003
NM_001267550.2(TTN):c.93107T>C (p.Met31036Thr) rs376942948 0.00003
NM_001267550.2(TTN):c.93182G>A (p.Arg31061His) rs727504923 0.00003
NM_001267550.2(TTN):c.94348C>T (p.Arg31450Cys) rs541040798 0.00003
NM_001267550.2(TTN):c.95068G>A (p.Val31690Met) rs727503543 0.00003
NM_001267550.2(TTN):c.95149G>A (p.Val31717Ile) rs150930737 0.00003
NM_001267550.2(TTN):c.96960T>C (p.Ala32320=) rs141431591 0.00003
NM_001267550.2(TTN):c.9701A>G (p.Asn3234Ser) rs397517791 0.00003
NM_001267550.2(TTN):c.9884C>T (p.Thr3295Met) rs191708454 0.00003
NM_001276345.2(TNNT2):c.460C>T (p.Arg154Trp) rs483352832 0.00003
NM_001292063.2(OTOG):c.7995C>T (p.Cys2665=) rs200809116 0.00003
NM_001298.3(CNGA3):c.1306C>T (p.Arg436Trp) rs104893621 0.00003
NM_001330.5(CTF1):c.145-10G>A rs397516645 0.00003
NM_001354604.2(MITF):c.1179+4C>T rs749869303 0.00003
NM_001384474.1(LOXHD1):c.2497C>T (p.Arg833Ter) rs188119157 0.00003
NM_001384474.1(LOXHD1):c.6148A>G (p.Met2050Val) rs141749060 0.00003
NM_001614.5(ACTG1):c.909C>T (p.Thr303=) rs187127467 0.00003
NM_001814.6(CTSC):c.815G>A (p.Arg272His) rs587777534 0.00003
NM_001943.5(DSG2):c.1303G>A (p.Asp435Asn) rs370509593 0.00003
NM_001943.5(DSG2):c.2234C>T (p.Thr745Met) rs727504783 0.00003
NM_001943.5(DSG2):c.3040G>A (p.Val1014Ile) rs200830807 0.00003
NM_001943.5(DSG2):c.706A>G (p.Thr236Ala) rs727502985 0.00003
NM_001943.5(DSG2):c.84C>G (p.Val28=) rs397516711 0.00003
NM_002230.4(JUP):c.66C>T (p.Tyr22=) rs782575179 0.00003
NM_002294.3(LAMP2):c.276C>T (p.Phe92=) rs754577706 0.00003
NM_002294.3(LAMP2):c.472A>G (p.Thr158Ala) rs138374063 0.00003
NM_002471.4(MYH6):c.1108C>T (p.Arg370Trp) rs753444140 0.00003
NM_002471.4(MYH6):c.3508G>A (p.Glu1170Lys) rs727503236 0.00003
NM_002471.4(MYH6):c.3860-15T>G rs200883903 0.00003
NM_002473.6(MYH9):c.193G>A (p.Val65Met) rs377348805 0.00003
NM_002473.6(MYH9):c.468C>T (p.Thr156=) rs727503293 0.00003
NM_002473.6(MYH9):c.5806C>T (p.Arg1936Trp) rs727503281 0.00003
NM_002524.5(NRAS):c.553C>T (p.Pro185Ser) rs374061873 0.00003
NM_002691.4(POLD1):c.758+5G>A rs760003191 0.00003
NM_002693.3(POLG):c.2557C>T (p.Arg853Trp) rs121918053 0.00003
NM_002755.4(MAP2K1):c.156C>T (p.Ala52=) rs147489724 0.00003
NM_002834.5(PTPN11):c.556C>T (p.Arg186Trp) rs143433437 0.00003
NM_002834.5(PTPN11):c.598A>T (p.Asn200Tyr) rs727503381 0.00003
NM_003060.4(SLC22A5):c.424G>T (p.Ala142Ser) rs151231558 0.00003
NM_003803.4(MYOM1):c.3038C>T (p.Ala1013Val) rs557671408 0.00003
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr) rs111033217 0.00003
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878 0.00003
NM_004281.4(BAG3):c.781C>T (p.Arg261Trp) rs548032105 0.00003
NM_004333.6(BRAF):c.1068A>G (p.Gln356=) rs143335467 0.00003
NM_004333.6(BRAF):c.1694+14G>A rs184144181 0.00003
NM_004333.6(BRAF):c.2136C>T (p.Ala712=) rs377165711 0.00003
NM_004333.6(BRAF):c.708C>T (p.Asn236=) rs138333692 0.00003
NM_004415.4(DSP):c.1743C>T (p.Ala581=) rs139095230 0.00003
NM_004415.4(DSP):c.3650C>T (p.Thr1217Met) rs535202724 0.00003
NM_005343.4(HRAS):c.412G>A (p.Gly138Ser) rs397517142 0.00003
NM_005422.4(TECTA):c.811G>C (p.Glu271Gln) rs555093382 0.00003
NM_005609.4(PYGM):c.808C>T (p.Arg270Ter) rs767739769 0.00003
NM_006005.3(WFS1):c.143C>T (p.Ala48Val) rs397517195 0.00003
NM_006005.3(WFS1):c.1769C>T (p.Thr590Met) rs760280308 0.00003
NM_006005.3(WFS1):c.817G>A (p.Glu273Lys) rs142428158 0.00003
NM_006005.3(WFS1):c.991T>A (p.Phe331Ile) rs144888979 0.00003
NM_006073.4(TRDN):c.592A>G (p.Thr198Ala) rs952211002 0.00003
NM_006383.4(CIB2):c.300_309del (p.Glu100fs) rs765741202 0.00003
NM_006393.3(NEBL):c.153+15T>G rs397517204 0.00003
NM_006941.4(SOX10):c.131C>G (p.Ala44Gly) rs747377284 0.00003
NM_007078.3(LDB3):c.1672A>G (p.Ile558Val) rs372331627 0.00003
NM_007078.3(LDB3):c.897-10G>A rs77304928 0.00003
NM_007294.4(BRCA1):c.396C>A (p.Asn132Lys) rs80357413 0.00003
NM_007373.4(SHOC2):c.170C>T (p.Ser57Phe) rs536611911 0.00003
NM_012208.4(HARS2):c.1515G>T (p.Glu505Asp) rs370053420 0.00003
NM_014270.5(SLC7A9):c.1060G>A (p.Ala354Thr) rs939028046 0.00003
NM_016239.4(MYO15A):c.5288G>A (p.Arg1763Gln) rs780165350 0.00003
NM_016239.4(MYO15A):c.7762C>T (p.Arg2588Trp) rs778098806 0.00003
NM_017780.4(CHD7):c.6468C>T (p.Val2156=) rs777858802 0.00003
NM_020778.5(ALPK3):c.1828G>A (p.Val610Met) rs374911318 0.00003
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) rs146646971 0.00003
NM_022124.6(CDH23):c.1543A>G (p.Ile515Val) rs727504914 0.00003
NM_022124.6(CDH23):c.429+4G>A rs397517328 0.00003
NM_022124.6(CDH23):c.4620C>T (p.Asn1540=) rs111033490 0.00003
NM_022124.6(CDH23):c.5051G>C (p.Arg1684Pro) rs111033475 0.00003
NM_022124.6(CDH23):c.535G>A (p.Ala179Thr) rs371422466 0.00003
NM_022124.6(CDH23):c.9565C>T (p.Arg3189Trp) rs121908353 0.00003
NM_024009.3(GJB3):c.589G>A (p.Val197Ile) rs376506263 0.00003
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala) rs201015785 0.00003
NM_030662.4(MAP2K2):c.1065G>A (p.Ala355=) rs374807671 0.00003
NM_032119.4(ADGRV1):c.10339G>A (p.Glu3447Lys) rs397517419 0.00003
NM_032119.4(ADGRV1):c.12542C>T (p.Pro4181Leu) rs200957385 0.00003
NM_032119.4(ADGRV1):c.13287T>C (p.Tyr4429=) rs372799791 0.00003
NM_032119.4(ADGRV1):c.13765G>A (p.Val4589Met) rs375258567 0.00003
NM_032119.4(ADGRV1):c.14303C>T (p.Ser4768Leu) rs200130204 0.00003
NM_032119.4(ADGRV1):c.16377G>T (p.Gln5459His) rs371947306 0.00003
NM_032119.4(ADGRV1):c.16439G>A (p.Ser5480Asn) rs772117132 0.00003
NM_032119.4(ADGRV1):c.16447T>C (p.Phe5483Leu) rs376863164 0.00003
NM_032119.4(ADGRV1):c.5623G>A (p.Gly1875Arg) rs727503075 0.00003
NM_032119.4(ADGRV1):c.7907A>G (p.Asp2636Gly) rs770468449 0.00003
NM_032119.4(ADGRV1):c.9772G>A (p.Val3258Ile) rs764987437 0.00003
NM_032578.4(MYPN):c.3417C>T (p.Arg1139=) rs144488384 0.00003
NM_057176.3(BSND):c.917T>C (p.Leu306Pro) rs139049536 0.00003
NM_080680.3(COL11A2):c.4190T>G (p.Leu1397Arg) rs571981688 0.00003
NM_080680.3(COL11A2):c.854C>T (p.Thr285Met) rs747064765 0.00003
NM_138691.3(TMC1):c.1141T>A (p.Tyr381Asn) rs749491943 0.00003
NM_138691.3(TMC1):c.936T>G (p.Asn312Lys) rs148443938 0.00003
NM_144991.3(TSPEAR):c.41C>T (p.Ala14Val) rs140778310 0.00003
NM_145309.6(LRRC51):c.115C>T (p.Arg39Ter) rs780299621 0.00003
NM_153676.4(USH1C):c.1703C>T (p.Pro568Leu) rs747675437 0.00003
NM_153676.4(USH1C):c.2551T>G (p.Ser851Ala) rs200779709 0.00003
NM_153700.2(STRC):c.4237A>T (p.Thr1413Ser) rs754834213 0.00003
NM_170707.4(LMNA):c.78C>T (p.Ile26=) rs373721390 0.00003
NM_194248.3(OTOF):c.1713G>A (p.Leu571=) rs397517935 0.00003
NM_194248.3(OTOF):c.2147G>A (p.Ser716Asn) rs147657016 0.00003
NM_194248.3(OTOF):c.2465G>A (p.Arg822Gln) rs373681505 0.00003
NM_194248.3(OTOF):c.4186G>A (p.Glu1396Lys) rs745399096 0.00003
NM_194248.3(OTOF):c.4783G>A (p.Ala1595Thr) rs772763082 0.00003
NM_194248.3(OTOF):c.4922G>A (p.Arg1641His) rs200283244 0.00003
NM_194248.3(OTOF):c.4996T>C (p.Leu1666=) rs199854846 0.00003
NM_206933.4(USH2A):c.10922G>A (p.Arg3641Lys) rs397517969 0.00003
NM_206933.4(USH2A):c.12874A>G (p.Asn4292Asp) rs397517984 0.00003
NM_206933.4(USH2A):c.3532C>G (p.Pro1178Ala) rs372081834 0.00003
NM_206933.4(USH2A):c.4958G>A (p.Arg1653Gln) rs372436408 0.00003
NM_206933.4(USH2A):c.7451+3G>A rs397518030 0.00003
NM_206933.4(USH2A):c.821G>A (p.Arg274Gln) rs727504721 0.00003
NM_206933.4(USH2A):c.8576G>A (p.Arg2859His) rs778272177 0.00003
NM_206933.4(USH2A):c.949C>A (p.Arg317=) rs111033272 0.00003
NM_206933.4(USH2A):c.9989A>T (p.Asn3330Ile) rs397518050 0.00003
NM_000022.4(ADA):c.704G>A (p.Arg235Gln) rs79281338 0.00002
NM_000038.6(APC):c.1984C>A (p.Leu662Ile) rs756859993 0.00002
NM_000038.6(APC):c.6512G>A (p.Gly2171Glu) rs748745776 0.00002
NM_000059.4(BRCA2):c.10202C>T (p.Thr3401Met) rs55853199 0.00002
NM_000069.3(CACNA1S):c.1948+1G>A rs745712829 0.00002
NM_000116.5(TAFAZZIN):c.331C>T (p.His111Tyr) rs200405157 0.00002
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054 0.00002
NM_000169.3(GLA):c.196G>C (p.Glu66Gln) rs104894833 0.00002
NM_000169.3(GLA):c.320A>G (p.Gln107Arg) rs727505060 0.00002
NM_000169.3(GLA):c.335G>A (p.Arg112His) rs372966991 0.00002
NM_000179.3(MSH6):c.3851C>T (p.Thr1284Met) rs63750836 0.00002
NM_000218.3(KCNQ1):c.1726G>A (p.Val576Ile) rs750409379 0.00002
NM_000219.6(KCNE1):c.174C>G (p.Thr58=) rs727503101 0.00002
NM_000251.3(MSH2):c.304G>A (p.Val102Ile) rs193922373 0.00002
NM_000256.3(MYBPC3):c.1458-6G>A rs375347534 0.00002
NM_000256.3(MYBPC3):c.1812C>T (p.Asp604=) rs397515929 0.00002
NM_000256.3(MYBPC3):c.2003G>A (p.Arg668His) rs727503191 0.00002
NM_000256.3(MYBPC3):c.2163C>T (p.Thr721=) rs397515951 0.00002
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) rs36211723 0.00002
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg) rs187830361 0.00002
NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln) rs2856655 0.00002
NM_000256.3(MYBPC3):c.2877G>A (p.Thr959=) rs727503181 0.00002
NM_000256.3(MYBPC3):c.643C>T (p.Arg215Cys) rs397516063 0.00002
NM_000256.3(MYBPC3):c.713G>A (p.Arg238His) rs727504396 0.00002
NM_000257.4(MYH7):c.1727A>G (p.His576Arg) rs727504238 0.00002
NM_000257.4(MYH7):c.2348G>A (p.Arg783His) rs397516142 0.00002
NM_000257.4(MYH7):c.350A>T (p.Tyr117Phe) rs201012865 0.00002
NM_000257.4(MYH7):c.354G>A (p.Ser118=) rs368925624 0.00002
NM_000257.4(MYH7):c.3637G>A (p.Val1213Met) rs397516182 0.00002
NM_000257.4(MYH7):c.3803G>A (p.Arg1268His) rs397516194 0.00002
NM_000257.4(MYH7):c.4031G>A (p.Arg1344Gln) rs797045097 0.00002
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390 0.00002
NM_000257.4(MYH7):c.5704G>C (p.Glu1902Gln) rs187073962 0.00002
NM_000257.4(MYH7):c.5736C>T (p.Ile1912=) rs200728597 0.00002
NM_000257.4(MYH7):c.706G>A (p.Val236Ile) rs397516261 0.00002
NM_000257.4(MYH7):c.958G>A (p.Val320Met) rs376897125 0.00002
NM_000258.3(MYL3):c.532G>A (p.Asp178Asn) rs145520567 0.00002
NM_000260.4(MYO7A):c.1006C>T (p.Arg336Cys) rs369997614 0.00002
NM_000260.4(MYO7A):c.2002C>T (p.Arg668Cys) rs397516292 0.00002
NM_000260.4(MYO7A):c.3583G>A (p.Val1195Met) rs781958107 0.00002
NM_000260.4(MYO7A):c.3827C>T (p.Ser1276Leu) rs369458838 0.00002
NM_000260.4(MYO7A):c.4851C>T (p.Pro1617=) rs372535399 0.00002
NM_000260.4(MYO7A):c.5660C>T (p.Pro1887Leu) rs199606180 0.00002
NM_000260.4(MYO7A):c.5824G>T (p.Gly1942Ter) rs111033192 0.00002
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter) rs376764423 0.00002
NM_000260.4(MYO7A):c.722G>A (p.Arg241His) rs111033284 0.00002
NM_000277.3(PAH):c.842+5G>A rs62516146 0.00002
NM_000335.5(SCN5A):c.2039G>A (p.Arg680His) rs199473142 0.00002
NM_000335.5(SCN5A):c.3408C>T (p.Ser1136=) rs553231555 0.00002
NM_000335.5(SCN5A):c.5061C>T (p.Ile1687=) rs145731678 0.00002
NM_000363.5(TNNI3):c.151-6C>G rs377258542 0.00002
NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln) rs397516349 0.00002
NM_000432.4(MYL2):c.163G>T (p.Ala55Ser) rs727504425 0.00002
NM_000432.4(MYL2):c.184A>T (p.Lys62Ter) rs201728041 0.00002
NM_000432.4(MYL2):c.355G>A (p.Val119Ile) rs730880940 0.00002
NM_000441.2(SLC26A4):c.1983C>A (p.Asp661Glu) rs199588131 0.00002
NM_000441.2(SLC26A4):c.200C>G (p.Thr67Ser) rs111033240 0.00002
NM_000441.2(SLC26A4):c.572C>T (p.Ala191Val) rs372875358 0.00002
NM_000478.6(ALPL):c.303C>A (p.Tyr101Ter) rs746273959 0.00002
NM_000535.7(PMS2):c.1080A>G (p.Ile360Met) rs567102013 0.00002
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145 0.00002
NM_000540.3(RYR1):c.2635G>A (p.Glu879Lys) rs746904839 0.00002
NM_000543.5(SMPD1):c.757G>C (p.Asp253His) rs398123479 0.00002
NM_000548.5(TSC2):c.3989C>T (p.Thr1330Met) rs397515209 0.00002
NM_000548.5(TSC2):c.5260-12C>T rs769264472 0.00002
NM_001035.3(RYR2):c.3921G>A (p.Pro1307=) rs201469656 0.00002
NM_001039141.3(TRIOBP):c.6575+14G>A rs577534147 0.00002
NM_001039876.3(SYNE4):c.616C>T (p.Leu206=) rs771897813 0.00002
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) rs137854550 0.00002
NM_001042545.2(LTBP4):c.1158G>A (p.Glu386=) rs1015435132 0.00002
NM_001080467.3(MYO5B):c.1347del (p.Phe450fs) rs1298330895 0.00002
NM_001103.4(ACTN2):c.762C>T (p.His254=) rs397516584 0.00002
NM_001127671.2(LIFR):c.2074C>T (p.Arg692Ter) rs199775294 0.00002
NM_001134363.3(RBM20):c.3185T>C (p.Phe1062Ser) rs1479765434 0.00002
NM_001145809.2(MYH14):c.1251G>A (p.Thr417=) rs759132835 0.00002
NM_001145809.2(MYH14):c.2359G>A (p.Glu787Lys) rs397516628 0.00002
NM_001145809.2(MYH14):c.4259C>T (p.Ala1420Val) rs727503225 0.00002
NM_001195518.2(MICU1):c.735+1G>A rs369915689 0.00002
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) rs376712059 0.00002
NM_001267550.2(TTN):c.10024G>A (p.Val3342Ile) rs727503679 0.00002
NM_001267550.2(TTN):c.102024A>G (p.Leu34008=) rs727504677 0.00002
NM_001267550.2(TTN):c.103859G>A (p.Arg34620His) rs367927066 0.00002
NM_001267550.2(TTN):c.105562A>C (p.Ile35188Leu) rs727504491 0.00002
NM_001267550.2(TTN):c.107134A>C (p.Asn35712His) rs727504949 0.00002
NM_001267550.2(TTN):c.13499A>G (p.Lys4500Arg) rs727503655 0.00002
NM_001267550.2(TTN):c.16157T>C (p.Met5386Thr) rs375417155 0.00002
NM_001267550.2(TTN):c.1851A>C (p.Thr617=) rs727504530 0.00002
NM_001267550.2(TTN):c.21605C>G (p.Ser7202Cys) rs747376234 0.00002
NM_001267550.2(TTN):c.21800G>A (p.Gly7267Asp) rs375627540 0.00002
NM_001267550.2(TTN):c.24075T>G (p.Ile8025Met) rs371496970 0.00002
NM_001267550.2(TTN):c.26765G>A (p.Arg8922Gln) rs397517520 0.00002
NM_001267550.2(TTN):c.39085C>A (p.Pro13029Thr) rs397517553 0.00002
NM_001267550.2(TTN):c.39786A>G (p.Glu13262=) rs398124450 0.00002
NM_001267550.2(TTN):c.3989G>A (p.Arg1330His) rs761402128 0.00002
NM_001267550.2(TTN):c.47887A>G (p.Met15963Val) rs397517590 0.00002
NM_001267550.2(TTN):c.49701A>G (p.Ser16567=) rs369646977 0.00002
NM_001267550.2(TTN):c.5373C>A (p.Thr1791=) rs727503693 0.00002
NM_001267550.2(TTN):c.59937G>A (p.Gly19979=) rs727505101 0.00002
NM_001267550.2(TTN):c.60314T>G (p.Val20105Gly) rs727504490 0.00002
NM_001267550.2(TTN):c.63558G>A (p.Val21186=) rs200261892 0.00002
NM_001267550.2(TTN):c.64101G>A (p.Pro21367=) rs397517657 0.00002
NM_001267550.2(TTN):c.64338T>C (p.Ala21446=) rs371514555 0.00002
NM_001267550.2(TTN):c.6478A>G (p.Thr2160Ala) rs397517693 0.00002
NM_001267550.2(TTN):c.6508+15T>C rs747722195 0.00002
NM_001267550.2(TTN):c.65319T>C (p.Thr21773=) rs746956869 0.00002
NM_001267550.2(TTN):c.66349G>A (p.Ala22117Thr) rs727505036 0.00002
NM_001267550.2(TTN):c.67444C>T (p.Arg22482Trp) rs563233842 0.00002
NM_001267550.2(TTN):c.71608G>A (p.Gly23870Ser) rs727503564 0.00002
NM_001267550.2(TTN):c.732C>T (p.Ala244=) rs761859812 0.00002
NM_001267550.2(TTN):c.7392T>C (p.Leu2464=) rs565784637 0.00002
NM_001267550.2(TTN):c.74549A>G (p.Asp24850Gly) rs573415766 0.00002
NM_001267550.2(TTN):c.75745C>T (p.Arg25249Cys) rs397517702 0.00002
NM_001267550.2(TTN):c.76070G>A (p.Arg25357His) rs397517703 0.00002
NM_001267550.2(TTN):c.80858C>T (p.Thr26953Met) rs377506142 0.00002
NM_001267550.2(TTN):c.81850G>A (p.Val27284Ile) rs746222222 0.00002
NM_001267550.2(TTN):c.87805G>A (p.Val29269Ile) rs727503551 0.00002
NM_001267550.2(TTN):c.9306-4A>G rs757164431 0.00002
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs) rs397517776 0.00002
NM_001276345.2(TNNT2):c.63T>G (p.Val21=) rs397516477 0.00002
NM_001276345.2(TNNT2):c.720-6G>A rs113471285 0.00002
NM_001292063.2(OTOG):c.3526-12G>C rs749205983 0.00002
NM_001330691.3(CEP78):c.120G>C (p.Glu40Asp) rs746861398 0.00002
NM_001368067.1(LDB3):c.456G>A (p.Ala152=) rs371708921 0.00002
NM_001369.3(DNAH5):c.8642C>G (p.Ala2881Gly) rs727502973 0.00002
NM_001378609.3(OTOGL):c.3263A>G (p.Asp1088Gly) rs12422945 0.00002
NM_001378609.3(OTOGL):c.4234A>G (p.Met1412Val) rs774172292 0.00002
NM_001384140.1(PCDH15):c.2751+2T>C rs754543131 0.00002
NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter) rs202033121 0.00002
NM_001384474.1(LOXHD1):c.4680C>T (p.Cys1560=) rs397517863 0.00002
NM_001393500.2(TOMT):c.259+4A>C rs545947177 0.00002
NM_001943.5(DSG2):c.1914A>G (p.Gly638=) rs200395484 0.00002
NM_002230.4(JUP):c.351C>T (p.Ala117=) rs397517300 0.00002
NM_002230.4(JUP):c.902A>G (p.Glu301Gly) rs782058451 0.00002
NM_002294.3(LAMP2):c.277G>A (p.Gly93Arg) rs727504953 0.00002
NM_002471.4(MYH6):c.5439G>A (p.Gln1813=) rs200854143 0.00002
NM_002473.6(MYH9):c.491-7G>A rs200059134 0.00002
NM_002473.6(MYH9):c.5853G>A (p.Ala1951=) rs746116612 0.00002
NM_002880.4(RAF1):c.639T>C (p.Thr213=) rs397516823 0.00002
NM_003002.4(SDHD):c.479G>T (p.Ter160Leu) rs201372601 0.00002
NM_004004.6(GJB2):c.194A>G (p.Tyr65Cys) rs111033203 0.00002
NM_004086.3(COCH):c.271C>T (p.Arg91Ter) rs540895576 0.00002
NM_004333.6(BRAF):c.*7T>C rs727502903 0.00002
NM_004415.4(DSP):c.3303C>T (p.Tyr1101=) rs372440854 0.00002
NM_004415.4(DSP):c.6655G>A (p.Val2219Ile) rs397516953 0.00002
NM_004999.4(MYO6):c.826C>T (p.Arg276Ter) rs727503326 0.00002
NM_005379.4(MYO1A):c.2141G>A (p.Arg714His) rs369452147 0.00002
NM_005422.4(TECTA):c.487-7C>G rs368627411 0.00002
NM_005422.4(TECTA):c.5977C>T (p.Arg1993Ter) rs760574657 0.00002
NM_005472.5(KCNE3):c.10A>G (p.Thr4Ala) rs200856070 0.00002
NM_005633.4(SOS1):c.1772A>G (p.Asn591Ser) rs757213444 0.00002
NM_006005.3(WFS1):c.1290G>A (p.Ser430=) rs752100338 0.00002
NM_006012.4(CLPP):c.15A>G (p.Ile5Met) rs763687804 0.00002
NM_006231.4(POLE):c.5382C>G (p.Ile1794Met) rs368364666 0.00002
NM_006393.3(NEBL):c.1963-13C>T rs727504904 0.00002
NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp) rs397509327 0.00002
NM_014000.3(VCL):c.2746-14C>T rs367598954 0.00002
NM_015340.4(LARS2):c.2404+4C>T rs199693918 0.00002
NM_015404.4(WHRN):c.1360G>A (p.Val454Ile) rs370178817 0.00002
NM_015404.4(WHRN):c.139A>G (p.Thr47Ala) rs556585167 0.00002
NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn) rs138603088 0.00002
NM_016239.4(MYO15A):c.4108C>T (p.Arg1370Cys) rs878854411 0.00002
NM_016239.4(MYO15A):c.4483-6G>A rs771397877 0.00002
NM_016239.4(MYO15A):c.4642G>A (p.Ala1548Thr) rs201067821 0.00002
NM_016239.4(MYO15A):c.8341-2A>C rs778404517 0.00002
NM_017668.3(NDE1):c.130C>T (p.Arg44Ter) rs747020521 0.00002
NM_017841.4(SDHAF2):c.165G>A (p.Trp55Ter) rs774508076 0.00002
NM_019616.4(F7):c.1158T>G (p.His386Gln) rs121964936 0.00002
NM_022124.6(CDH23):c.4589C>T (p.Pro1530Leu) rs554938323 0.00002
NM_022124.6(CDH23):c.5066T>C (p.Met1689Thr) rs397517334 0.00002
NM_024334.3(TMEM43):c.323T>C (p.Val108Ala) rs182351748 0.00002
NM_024334.3(TMEM43):c.829A>T (p.Thr277Ser) rs532872056 0.00002
NM_024422.6(DSC2):c.149G>A (p.Gly50Asp) rs397517391 0.00002
NM_024422.6(DSC2):c.1680G>A (p.Thr560=) rs567202599 0.00002
NM_024422.6(DSC2):c.1938T>G (p.Tyr646Ter) rs397517395 0.00002
NM_030662.4(MAP2K2):c.450+13G>A rs572847821 0.00002
NM_030662.4(MAP2K2):c.450+14G>A rs397517414 0.00002
NM_032119.4(ADGRV1):c.12798T>A (p.Tyr4266Ter) rs777309662 0.00002
NM_032119.4(ADGRV1):c.1505C>T (p.Ala502Val) rs367826825 0.00002
NM_032119.4(ADGRV1):c.15719C>T (p.Thr5240Ile) rs768299251 0.00002
NM_032119.4(ADGRV1):c.21A>C (p.Pro7=) rs727504831 0.00002
NM_032119.4(ADGRV1):c.2261T>C (p.Val754Ala) rs374609813 0.00002
NM_032119.4(ADGRV1):c.3580G>C (p.Asp1194His) rs779520200 0.00002
NM_032119.4(ADGRV1):c.3775T>A (p.Ser1259Thr) rs376900429 0.00002
NM_032119.4(ADGRV1):c.5969T>C (p.Val1990Ala) rs376559614 0.00002
NM_032119.4(ADGRV1):c.787G>A (p.Val263Met) rs727505056 0.00002
NM_032119.4(ADGRV1):c.9291T>G (p.Ser3097Arg) rs727505041 0.00002
NM_032119.4(ADGRV1):c.968T>C (p.Ile323Thr) rs757910491 0.00002
NM_032578.4(MYPN):c.3768G>A (p.Ser1256=) rs533708375 0.00002
NM_080680.3(COL11A2):c.3529-3C>T rs753183777 0.00002
NM_080680.3(COL11A2):c.3959G>A (p.Arg1320Gln) rs372143434 0.00002
NM_080680.3(COL11A2):c.4751-9A>G rs555680585 0.00002
NM_080680.3(COL11A2):c.5106G>A (p.Thr1702=) rs752823488 0.00002
NM_080680.3(COL11A2):c.752A>T (p.Gln251Leu) rs201399429 0.00002
NM_138691.3(TMC1):c.1070A>G (p.Asn357Ser) rs397517834 0.00002
NM_138691.3(TMC1):c.1939T>C (p.Ser647Pro) rs138527651 0.00002
NM_144672.4(OTOA):c.1141C>G (p.Gln381Glu) rs377581131 0.00002
NM_147196.3(TMIE):c.211+5G>A rs375470385 0.00002
NM_170707.4(LMNA):c.1185G>A (p.Ser395=) rs397517890 0.00002
NM_173477.5(USH1G):c.678C>A (p.Gly226=) rs201525855 0.00002
NM_181458.4(PAX3):c.572T>C (p.Ile191Thr) rs199560470 0.00002
NM_194248.3(OTOF):c.3226T>C (p.Tyr1076His) rs150782952 0.00002
NM_194248.3(OTOF):c.322A>G (p.Ile108Val) rs727505189 0.00002
NM_194248.3(OTOF):c.4718T>C (p.Ile1573Thr) rs111033405 0.00002
NM_194248.3(OTOF):c.55C>T (p.Arg19Trp) rs727504985 0.00002
NM_194248.3(OTOF):c.5713-2A>G rs111033455 0.00002
NM_206933.4(USH2A):c.10517C>T (p.Thr3506Met) rs397517966 0.00002
NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe) rs758571672 0.00002
NM_206933.4(USH2A):c.5581G>A (p.Gly1861Ser) rs375668376 0.00002
NM_206933.4(USH2A):c.5857+2T>C rs397518022 0.00002
NM_206933.4(USH2A):c.9047G>A (p.Cys3016Tyr) rs759365458 0.00002
NM_000038.6(APC):c.1743+6T>C rs766973462 0.00001
NM_000038.6(APC):c.3161A>C (p.His1054Pro) rs777538550 0.00001
NM_000038.6(APC):c.933+5C>A rs573528468 0.00001
NM_000059.4(BRCA2):c.964A>C (p.Lys322Gln) rs11571640 0.00001
NM_000091.5(COL4A3):c.361G>A (p.Gly121Ser) rs778886174 0.00001
NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys) rs727503057 0.00001
NM_000138.5(FBN1):c.5788+5G>A rs193922219 0.00001
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr) rs193922228 0.00001
NM_000162.5(GCK):c.676G>A (p.Val226Met) rs148311934 0.00001
NM_000169.3(GLA):c.1055C>G (p.Ala352Gly) rs869312162 0.00001
NM_000169.3(GLA):c.1153A>G (p.Thr385Ala) rs397515869 0.00001
NM_000169.3(GLA):c.801+14C>T rs200744672 0.00001
NM_000170.3(GLDC):c.128del (p.Asp43fs) rs1251443902 0.00001
NM_000179.3(MSH6):c.3724C>A (p.Arg1242Ser) rs587779285 0.00001
NM_000179.3(MSH6):c.3980A>G (p.Asn1327Ser) rs780187989 0.00001
NM_000179.3(MSH6):c.892C>T (p.Arg298Ter) rs146816935 0.00001
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln) rs199472815 0.00001
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu) rs199473456 0.00001
NM_000251.3(MSH2):c.2579C>T (p.Ser860Leu) rs63750849 0.00001
NM_000251.3(MSH2):c.645+3A>G rs587779168 0.00001
NM_000256.3(MYBPC3):c.148A>G (p.Ser50Gly) rs373164247 0.00001
NM_000256.3(MYBPC3):c.166G>A (p.Gly56Ser) rs397515918 0.00001
NM_000256.3(MYBPC3):c.2274C>T (p.Gly758=) rs397515957 0.00001
NM_000256.3(MYBPC3):c.2573G>A (p.Ser858Asn) rs727503185 0.00001
NM_000256.3(MYBPC3):c.284T>C (p.Ile95Thr) rs727504945 0.00001
NM_000256.3(MYBPC3):c.2995-5C>G rs376083315 0.00001
NM_000256.3(MYBPC3):c.3362G>A (p.Arg1121His) rs397516018 0.00001
NM_000256.3(MYBPC3):c.3763G>A (p.Ala1255Thr) rs727503167 0.00001
NM_000256.3(MYBPC3):c.481C>A (p.Pro161Thr) rs397516053 0.00001
NM_000257.4(MYH7):c.1083C>T (p.Asn361=) rs145091844 0.00001
NM_000257.4(MYH7):c.1324C>T (p.Arg442Cys) rs148808089 0.00001
NM_000257.4(MYH7):c.1358G>A (p.Arg453His) rs397516101 0.00001
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr) rs397516103 0.00001
NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp) rs267606911 0.00001
NM_000257.4(MYH7):c.1630A>G (p.Thr544Ala) rs397516119 0.00001
NM_000257.4(MYH7):c.1700G>A (p.Arg567His) rs377491278 0.00001
NM_000257.4(MYH7):c.1750G>A (p.Gly584Ser) rs121913626 0.00001
NM_000257.4(MYH7):c.2080C>T (p.Arg694Cys) rs727504240 0.00001
NM_000257.4(MYH7):c.2168G>A (p.Arg723His) rs397516135 0.00001
NM_000257.4(MYH7):c.2472C>T (p.Val824=) rs397516150 0.00001
NM_000257.4(MYH7):c.2499C>T (p.Tyr833=) rs397516151 0.00001
NM_000257.4(MYH7):c.2555T>C (p.Met852Thr) rs397516157 0.00001
NM_000257.4(MYH7):c.2573G>A (p.Arg858His) rs2856897 0.00001
NM_000257.4(MYH7):c.2644C>G (p.Gln882Glu) rs397516160 0.00001
NM_000257.4(MYH7):c.3169G>A (p.Gly1057Ser) rs397516179 0.00001
NM_000257.4(MYH7):c.3235C>T (p.Arg1079Trp) rs192722540 0.00001
NM_000257.4(MYH7):c.343T>C (p.Tyr115His) rs397516183 0.00001
NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys) rs727503246 0.00001
NM_000257.4(MYH7):c.4145G>A (p.Arg1382Gln) rs727504325 0.00001
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp) rs145213771 0.00001
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) rs397516209 0.00001
NM_000257.4(MYH7):c.4326G>A (p.Leu1442=) rs727503243 0.00001
NM_000257.4(MYH7):c.4487A>C (p.Glu1496Ala) rs397516218 0.00001
NM_000257.4(MYH7):c.4588C>T (p.Arg1530Ter) rs397516225 0.00001
NM_000257.4(MYH7):c.4644+3G>A rs397516226 0.00001
NM_000257.4(MYH7):c.4911C>T (p.Ala1637=) rs151113658 0.00001
NM_000257.4(MYH7):c.709C>T (p.Arg237Trp) rs45516091 0.00001
NM_000257.4(MYH7):c.727C>T (p.Arg243Cys) rs397516265 0.00001
NM_000257.4(MYH7):c.728G>A (p.Arg243His) rs267606910 0.00001
NM_000258.3(MYL3):c.281G>A (p.Arg94His) rs199474703 0.00001
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys) rs104893750 0.00001
NM_000260.4(MYO7A):c.1097T>C (p.Leu366Pro) rs397516281 0.00001
NM_000260.4(MYO7A):c.1208A>G (p.Tyr403Cys) rs797044511 0.00001
NM_000260.4(MYO7A):c.1401_1403dup (p.Arg467_His468insGln) rs111033219 0.00001
NM_000260.4(MYO7A):c.2122A>G (p.Met708Val) rs397516293 0.00001
NM_000260.4(MYO7A):c.2187+1G>A rs111033290 0.00001
NM_000260.4(MYO7A):c.2382C>T (p.Phe794=) rs970183279 0.00001
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His) rs111033437 0.00001
NM_000260.4(MYO7A):c.2863G>A (p.Gly955Ser) rs781988557 0.00001
NM_000260.4(MYO7A):c.359G>A (p.Arg120His) rs369493667 0.00001
NM_000260.4(MYO7A):c.4065del (p.His1355fs) rs111033202 0.00001
NM_000260.4(MYO7A):c.4360G>A (p.Val1454Ile) rs397516309 0.00001
NM_000260.4(MYO7A):c.4505A>G (p.Asp1502Gly) rs757460257 0.00001
NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro) rs368657015 0.00001
NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro) rs397516323 0.00001
NM_000271.5(NPC1):c.1628C>T (p.Pro543Leu) rs369368181 0.00001
NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs) rs756815030 0.00001
NM_000283.4(PDE6B):c.1920+2T>C rs763996159 0.00001
NM_000314.8(PTEN):c.518G>A (p.Arg173His) rs121913294 0.00001
NM_000335.5(SCN5A):c.1045G>A (p.Asp349Asn) rs779687673 0.00001
NM_000335.5(SCN5A):c.1538G>A (p.Arg513His) rs397517951 0.00001
NM_000335.5(SCN5A):c.1890G>A (p.Thr630=) rs1204915217 0.00001
NM_000335.5(SCN5A):c.2013C>T (p.Ser671=) rs751050999 0.00001
NM_000335.5(SCN5A):c.2441G>A (p.Arg814Gln) rs199473584 0.00001
NM_000335.5(SCN5A):c.2770G>A (p.Val924Ile) rs199473177 0.00001
NM_000335.5(SCN5A):c.2893C>T (p.Arg965Cys) rs199473180 0.00001
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp) rs137854602 0.00001
NM_000335.5(SCN5A):c.4744C>T (p.Arg1582Cys) rs45514691 0.00001
NM_000335.5(SCN5A):c.5946C>T (p.Ala1982=) rs397517957 0.00001
NM_000335.5(SCN5A):c.6000C>T (p.Leu2000=) rs538707712 0.00001
NM_000335.5(SCN5A):c.656G>A (p.Arg219His) rs878855296 0.00001
NM_000337.6(SGCD):c.193-12G>T rs727503421 0.00001
NM_000337.6(SGCD):c.45T>A (p.Pro15=) rs727505092 0.00001
NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val) rs760549861 0.00001
NM_000363.5(TNNI3):c.336C>T (p.Tyr112=) rs559450042 0.00001
NM_000363.5(TNNI3):c.428C>A (p.Thr143Asn) rs397516348 0.00001
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln) rs397516354 0.00001
NM_000363.5(TNNI3):c.497C>T (p.Ser166Phe) rs727504242 0.00001
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn) rs104894727 0.00001
NM_000363.5(TNNI3):c.592C>G (p.Leu198Val) rs727504285 0.00001
NM_000363.5(TNNI3):c.610C>T (p.Arg204Cys) rs727504243 0.00001
NM_000368.5(TSC1):c.1250C>T (p.Thr417Ile) rs77464996 0.00001
NM_000371.4(TTR):c.337-3T>C rs774027595 0.00001
NM_000384.3(APOB):c.13154G>A (p.Arg4385His) rs533755016 0.00001
NM_000441.2(SLC26A4):c.1231G>C (p.Ala411Pro) rs1293971731 0.00001
NM_000441.2(SLC26A4):c.1694G>A (p.Cys565Tyr) rs111033257 0.00001
NM_000441.2(SLC26A4):c.1708-14A>G rs1453109539 0.00001
NM_000441.2(SLC26A4):c.2003T>C (p.Leu668Pro) rs727504303 0.00001
NM_000441.2(SLC26A4):c.845G>A (p.Cys282Tyr) rs111033454 0.00001
NM_000492.4(CFTR):c.1766+5G>T rs121908796 0.00001
NM_000492.4(CFTR):c.2909G>A (p.Gly970Asp) rs386134230 0.00001
NM_000497.4(CYP11B1):c.1269T>G (p.Tyr423Ter) rs267606755 0.00001
NM_000503.6(EYA1):c.1276G>A (p.Gly426Ser) rs121909199 0.00001
NM_000527.5(LDLR):c.1217G>A (p.Arg406Gln) rs552422789 0.00001
NM_000527.5(LDLR):c.1576C>T (p.Pro526Ser) rs730882106 0.00001
NM_000535.7(PMS2):c.251-2A>T rs587779340 0.00001
NM_000540.3(RYR1):c.6549-8G>A rs756593088 0.00001
NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys) rs28933397 0.00001
NM_000540.3(RYR1):c.8290G>A (p.Glu2764Lys) rs193922829 0.00001
NM_000546.6(TP53):c.473G>A (p.Arg158His) rs587782144 0.00001
NM_000546.6(TP53):c.542G>A (p.Arg181His) rs397514495 0.00001
NM_000546.6(TP53):c.817C>T (p.Arg273Cys) rs121913343 0.00001
NM_000546.6(TP53):c.885T>C (p.Pro295=) rs200073907 0.00001
NM_000685.5(AGTR1):c.110dup (p.Ile38fs) rs387906577 0.00001
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln) rs121908099 0.00001
NM_001005242.3(PKP2):c.1539C>T (p.Asn513=) rs535581825 0.00001
NM_001005242.3(PKP2):c.473G>A (p.Arg158Lys) rs397517027 0.00001
NM_001010892.3(RSPH4A):c.*8A>G rs575857124 0.00001
NM_001018005.2(TPM1):c.644C>T (p.Ser215Leu) rs199476316 0.00001
NM_001018005.2(TPM1):c.64G>A (p.Ala22Thr) rs397516382 0.00001
NM_001018005.2(TPM1):c.82G>C (p.Asp28His) rs397516391 0.00001
NM_001018005.2(TPM1):c.842T>C (p.Met281Thr) rs199476321 0.00001
NM_001035.3(RYR2):c.10142+4T>C rs397516496 0.00001
NM_001035.3(RYR2):c.11326-4A>G rs727504876 0.00001
NM_001035.3(RYR2):c.13326C>T (p.Ala4442=) rs768161152 0.00001
NM_001035.3(RYR2):c.3151C>T (p.Arg1051Cys) rs533330664 0.00001
NM_001035.3(RYR2):c.3537T>C (p.Gly1179=) rs397516526 0.00001
NM_001035.3(RYR2):c.4241G>A (p.Arg1414Gln) rs727504850 0.00001
NM_001035.3(RYR2):c.463+6C>T rs397516533 0.00001
NM_001038603.3(MARVELD2):c.1059A>G (p.Ile353Met) rs727503158 0.00001
NM_001038603.3(MARVELD2):c.1147-2A>G rs763062791 0.00001
NM_001039141.3(TRIOBP):c.-3A>G rs779160270 0.00001
NM_001039876.3(SYNE4):c.972+5G>A rs369269989 0.00001
NM_001048174.2(MUTYH):c.1103-2A>G rs587781628 0.00001
NM_001048174.2(MUTYH):c.736C>T (p.Arg246Trp) rs769237459 0.00001
NM_001079668.3(NKX2-1):c.201G>C (p.Pro67=) rs747491554 0.00001
NM_001103.4(ACTN2):c.1422C>T (p.His474=) rs1282303942 0.00001
NM_001105206.3(LAMA4):c.343G>A (p.Asp115Asn) rs781919095 0.00001
NM_001105206.3(LAMA4):c.486T>C (p.Ala162=) rs397516734 0.00001
NM_001122659.3(EDNRB):c.1194+15C>T rs886050325 0.00001
NM_001128840.3(CACNA1D):c.5813C>T (p.Pro1938Leu) rs770886605 0.00001
NM_001128840.3(CACNA1D):c.6393G>A (p.Gln2131=) rs200001131 0.00001
NM_001134363.3(RBM20):c.131C>A (p.Pro44Gln) rs563500712 0.00001
NM_001134363.3(RBM20):c.1906C>T (p.Arg636Cys) rs267607002 0.00001
NM_001142800.2(EYS):c.6528C>A (p.Tyr2176Ter) rs797045089 0.00001
NM_001145809.2(MYH14):c.1205A>G (p.Asn402Ser) rs537153044 0.00001
NM_001195263.2(PDZD7):c.2230C>A (p.Arg744=) rs565952913 0.00001
NM_001199107.2(TBC1D24):c.*2G>A rs780054979 0.00001
NM_001199107.2(TBC1D24):c.920A>G (p.Asn307Ser) rs761934676 0.00001
NM_001199799.2(ILDR1):c.1560C>A (p.Gly520=) rs369318229 0.00001
NM_001256317.3(TMPRSS3):c.1340T>C (p.Met447Thr) rs201018751 0.00001
NM_001256317.3(TMPRSS3):c.446+4A>T rs376253981 0.00001
NM_001256317.3(TMPRSS3):c.727G>A (p.Gly243Arg) rs372526764 0.00001
NM_001256317.3(TMPRSS3):c.783-13C>A rs140443203 0.00001
NM_001267550.2(TTN):c.104126G>A (p.Arg34709His) rs574420969 0.00001
NM_001267550.2(TTN):c.105391A>G (p.Ile35131Val) rs779464128 0.00001
NM_001267550.2(TTN):c.107657A>G (p.Lys35886Arg) rs727504465 0.00001
NM_001267550.2(TTN):c.11506G>A (p.Val3836Met) rs397517825 0.00001
NM_001267550.2(TTN):c.11991T>C (p.Ile3997=) rs565546452 0.00001
NM_001267550.2(TTN):c.17500G>A (p.Val5834Ile) rs727505221 0.00001
NM_001267550.2(TTN):c.17928G>A (p.Leu5976=) rs373963067 0.00001
NM_001267550.2(TTN):c.20169C>T (p.Ala6723=) rs727504776 0.00001
NM_001267550.2(TTN):c.2206G>A (p.Gly736Arg) rs876658047 0.00001
NM_001267550.2(TTN):c.2227G>A (p.Ala743Thr) rs370728359 0.00001
NM_001267550.2(TTN):c.23178G>A (p.Ser7726=) rs753546095 0.00001
NM_001267550.2(TTN):c.23939-13C>A rs876658045 0.00001
NM_001267550.2(TTN):c.2649C>T (p.Phe883=) rs775588479 0.00001
NM_001267550.2(TTN):c.27328+5G>A rs397517521 0.00001
NM_001267550.2(TTN):c.27743C>A (p.Thr9248Asn) rs397517523 0.00001
NM_001267550.2(TTN):c.27914G>A (p.Arg9305Gln) rs397517527 0.00001
NM_001267550.2(TTN):c.28653G>C (p.Leu9551=) rs876657601 0.00001
NM_001267550.2(TTN):c.30022A>G (p.Met10008Val) rs1553877757 0.00001
NM_001267550.2(TTN):c.3070G>A (p.Val1024Ile) rs368770038 0.00001
NM_001267550.2(TTN):c.33248-8C>G rs766957102 0.00001
NM_001267550.2(TTN):c.3445G>A (p.Asp1149Asn) rs368967197 0.00001
NM_001267550.2(TTN):c.34734A>G (p.Val11578=) rs866407525 0.00001
NM_001267550.2(TTN):c.40408+7_40408+10dup rs397517560 0.00001
NM_001267550.2(TTN):c.40877-7A>G rs727505201 0.00001
NM_001267550.2(TTN):c.41810C>T (p.Ala13937Val) rs545806408 0.00001
NM_001267550.2(TTN):c.42056G>A (p.Arg14019His) rs374683153 0.00001
NM_001267550.2(TTN):c.44899C>T (p.Arg14967Ter) rs727505350 0.00001
NM_001267550.2(TTN):c.50363T>C (p.Ile16788Thr) rs397517599 0.00001
NM_001267550.2(TTN):c.50642G>C (p.Gly16881Ala) rs201302681 0.00001
NM_001267550.2(TTN):c.52144A>G (p.Arg17382Gly) rs397517607 0.00001
NM_001267550.2(TTN):c.52243G>A (p.Asp17415Asn) rs397517609 0.00001
NM_001267550.2(TTN):c.53260T>C (p.Phe17754Leu) rs397517612 0.00001
NM_001267550.2(TTN):c.53625A>G (p.Thr17875=) rs373277508 0.00001
NM_001267550.2(TTN):c.53717A>G (p.Lys17906Arg) rs727503606 0.00001
NM_001267550.2(TTN):c.54874G>C (p.Gly18292Arg) rs377512675 0.00001
NM_001267550.2(TTN):c.57860G>A (p.Arg19287His) rs371422299 0.00001
NM_001267550.2(TTN):c.583+5G>A rs397517663 0.00001
NM_001267550.2(TTN):c.58653T>C (p.Ile19551=) rs727504980 0.00001
NM_001267550.2(TTN):c.61224G>A (p.Val20408=) rs566188777 0.00001
NM_001267550.2(TTN):c.62275G>A (p.Glu20759Lys) rs562680371 0.00001
NM_001267550.2(TTN):c.68160C>T (p.Ala22720=) rs397517673 0.00001
NM_001267550.2(TTN):c.7173C>T (p.Asp2391=) rs374509926 0.00001
NM_001267550.2(TTN):c.71881G>A (p.Val23961Ile) rs397517690 0.00001
NM_001267550.2(TTN):c.72105T>C (p.Phe24035=) rs397517691 0.00001
NM_001267550.2(TTN):c.72669del (p.Asp24224fs) rs727504531 0.00001
NM_001267550.2(TTN):c.74331C>T (p.Asp24777=) rs368530092 0.00001
NM_001267550.2(TTN):c.74527A>G (p.Asn24843Asp) rs373527654 0.00001
NM_001267550.2(TTN):c.74981C>T (p.Pro24994Leu) rs531281558 0.00001
NM_001267550.2(TTN):c.7530A>G (p.Ser2510=) rs189187431 0.00001
NM_001267550.2(TTN):c.76124A>T (p.Tyr25375Phe) rs374494927 0.00001
NM_001267550.2(TTN):c.84398A>G (p.Asn28133Ser) rs727505053 0.00001
NM_001267550.2(TTN):c.84696A>C (p.Glu28232Asp) rs397517730 0.00001
NM_001267550.2(TTN):c.86085C>T (p.Asp28695=) rs773001228 0.00001
NM_001267550.2(TTN):c.87345T>C (p.Tyr29115=) rs369444690 0.00001
NM_001267550.2(TTN):c.87663T>C (p.Ser29221=) rs397517737 0.00001
NM_001267550.2(TTN):c.88983C>T (p.Gly29661=) rs371678936 0.00001
NM_001267550.2(TTN):c.89258T>A (p.Leu29753His) rs369279892 0.00001
NM_001267550.2(TTN):c.89989T>A (p.Leu29997Met) rs369855092 0.00001
NM_001267550.2(TTN):c.90742G>A (p.Val30248Ile) rs727505024 0.00001
NM_001267550.2(TTN):c.91643C>T (p.Ala30548Val) rs553668520 0.00001
NM_001267550.2(TTN):c.9176A>T (p.Glu3059Val) rs727504501 0.00001
NM_001267550.2(TTN):c.92780T>A (p.Ile30927Lys) rs531432790 0.00001
NM_001267550.2(TTN):c.93972A>G (p.Glu31324=) rs727504528 0.00001
NM_001267550.2(TTN):c.9434G>A (p.Arg3145Lys) rs727503682 0.00001
NM_001267550.2(TTN):c.96978G>A (p.Leu32326=) rs397517765 0.00001
NM_001267550.2(TTN):c.97418G>A (p.Arg32473His) rs397517770 0.00001
NM_001267550.2(TTN):c.97612C>T (p.Arg32538Cys) rs761050391 0.00001
NM_001267550.2(TTN):c.97742G>T (p.Gly32581Val) rs397517771 0.00001
NM_001267550.2(TTN):c.98465A>G (p.Asp32822Gly) rs191054704 0.00001
NM_001276345.2(TNNT2):c.144C>T (p.Thr48=) rs746492909 0.00001
NM_001276345.2(TNNT2):c.200-4C>G rs397516448 0.00001
NM_001276345.2(TNNT2):c.277G>A (p.Glu93Lys) rs727504244 0.00001
NM_001276345.2(TNNT2):c.411C>T (p.Ile137=) rs727504322 0.00001
NM_001276345.2(TNNT2):c.522C>T (p.Asn174=) rs483352833 0.00001
NM_001276345.2(TNNT2):c.601-1G>A rs483352835 0.00001
NM_001292063.2(OTOG):c.5303A>G (p.Glu1768Gly) rs876657555 0.00001
NM_001354689.3(RAF1):c.1200C>T (p.Val400=) rs397516814 0.00001
NM_001369.3(DNAH5):c.832del (p.Ala278fs) rs727502977 0.00001
NM_001378609.3(OTOGL):c.3277A>C (p.Asn1093His) rs867315415 0.00001
NM_001378609.3(OTOGL):c.4341del (p.Met1447fs) rs766971906 0.00001
NM_001927.4(DES):c.1285C>T (p.Arg429Ter) rs150974575 0.00001
NM_001927.4(DES):c.894G>A (p.Ser298=) rs747073500 0.00001
NM_001943.5(DSG2):c.1525G>A (p.Asp509Asn) rs753406968 0.00001
NM_001943.5(DSG2):c.222T>C (p.His74=) rs367797047 0.00001
NM_002471.4(MYH6):c.252C>T (p.Phe84=) rs397516757 0.00001
NM_002471.4(MYH6):c.3393G>A (p.Arg1131=) rs529107714 0.00001
NM_002471.4(MYH6):c.4960-9G>A rs557113705 0.00001
NM_002473.6(MYH9):c.11A>G (p.Gln4Arg) rs773960235 0.00001
NM_002473.6(MYH9):c.1389G>A (p.Ser463=) rs757449139 0.00001
NM_002473.6(MYH9):c.3397C>G (p.Gln1133Glu) rs368797590 0.00001
NM_002473.6(MYH9):c.3697G>A (p.Val1233Met) rs542791128 0.00001
NM_002473.6(MYH9):c.3903G>C (p.Lys1301Asn) rs767235227 0.00001
NM_002473.6(MYH9):c.4306G>A (p.Ala1436Thr) rs373912645 0.00001
NM_002473.6(MYH9):c.4448G>A (p.Arg1483Gln) rs727503285 0.00001
NM_002473.6(MYH9):c.5177G>A (p.Arg1726His) rs777701033 0.00001
NM_002473.6(MYH9):c.519-6T>G rs867195616 0.00001
NM_002524.5(NRAS):c.159G>A (p.Leu53=) rs114668710 0.00001
NM_002691.4(POLD1):c.203G>A (p.Gly68Glu) rs144707871 0.00001
NM_002764.4(PRPS1):c.12C>T (p.Ile4=) rs752590804 0.00001
NM_002834.5(PTPN11):c.931A>G (p.Met311Val) rs774939392 0.00001
NM_002880.4(RAF1):c.321T>C (p.Gly107=) rs201937982 0.00001
NM_002880.4(RAF1):c.845G>A (p.Arg282Gln) rs752713997 0.00001
NM_002887.4(RARS1):c.1414C>T (p.Arg472Ter) rs180760483 0.00001
NM_002906.4(RDX):c.995T>C (p.Ile332Thr) rs533107164 0.00001
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln) rs772551056 0.00001
NM_003476.5(CSRP3):c.449G>A (p.Cys150Tyr) rs761507504 0.00001
NM_004004.6(GJB2):c.133G>A (p.Gly45Arg) rs1326514987 0.00001
NM_004004.6(GJB2):c.188T>C (p.Val63Ala) rs727504309 0.00001
NM_004004.6(GJB2):c.19C>T (p.Gln7Ter) rs111033451 0.00001
NM_004004.6(GJB2):c.227T>C (p.Leu76Pro) rs111033361 0.00001
NM_004004.6(GJB2):c.239A>C (p.Gln80Pro) rs727504302 0.00001
NM_004004.6(GJB2):c.279G>A (p.Met93Ile) rs397516871 0.00001
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) rs111033295 0.00001
NM_004006.3(DMD):c.7397T>C (p.Met2466Thr) rs764330616 0.00001
NM_004100.5(EYA4):c.723A>G (p.Pro241=) rs556550485 0.00001
NM_004281.4(BAG3):c.465A>G (p.Ala155=) rs775151738 0.00001
NM_004333.6(BRAF):c.437G>A (p.Arg146Gln) rs557241012 0.00001
NM_004387.4(NKX2-5):c.111G>A (p.Leu37=) rs746594822 0.00001
NM_004415.4(DSP):c.145A>G (p.Thr49Ala) rs142059019 0.00001
NM_004415.4(DSP):c.4526G>A (p.Arg1509Lys) rs577061462 0.00001
NM_004415.4(DSP):c.4961T>C (p.Leu1654Pro) rs749730642 0.00001
NM_004415.4(DSP):c.8191T>C (p.Tyr2731His) rs201397978 0.00001
NM_004448.4(ERBB2):c.2443G>A (p.Gly815Arg) rs368094521 0.00001
NM_004629.2(FANCG):c.85-2A>T rs759590778 0.00001
NM_004700.4(KCNQ4):c.2006A>G (p.His669Arg) rs749565877 0.00001
NM_004700.4(KCNQ4):c.961G>A (p.Gly321Ser) rs28939710 0.00001
NM_005343.4(HRAS):c.378A>G (p.Glu126=) rs397517140 0.00001
NM_005343.4(HRAS):c.510G>A (p.Lys170=) rs397517143 0.00001
NM_005379.4(MYO1A):c.522C>T (p.Leu174=) rs561295735 0.00001
NM_005422.4(TECTA):c.1572C>T (p.Cys524=) rs767426110 0.00001
NM_005422.4(TECTA):c.2719C>T (p.Arg907Ter) rs764424917 0.00001
NM_005422.4(TECTA):c.5597C>T (p.Thr1866Met) rs140236996 0.00001
NM_005422.4(TECTA):c.5839C>T (p.Arg1947Cys) rs1428598791 0.00001
NM_005548.3(KARS1):c.1184A>G (p.Asn395Ser) rs780462719 0.00001
NM_005633.4(SOS1):c.350T>G (p.Val117Gly) rs201085754 0.00001
NM_006005.3(WFS1):c.1015G>A (p.Asp339Asn) rs772392224 0.00001
NM_006005.3(WFS1):c.1037C>T (p.Pro346Leu) rs773900146 0.00001
NM_006005.3(WFS1):c.1234G>C (p.Val412Leu) rs149865710 0.00001
NM_006005.3(WFS1):c.125G>A (p.Arg42Gln) rs750806151 0.00001
NM_006005.3(WFS1):c.2454C>T (p.Arg818=) rs139223980 0.00001
NM_006218.4(PIK3CA):c.323G>A (p.Arg108His) rs886042002 0.00001
NM_006231.4(POLE):c.5221C>T (p.Gln1741Ter) rs781481160 0.00001
NM_006231.4(POLE):c.6475C>T (p.Arg2159Cys) rs5745067 0.00001
NM_006231.4(POLE):c.941C>G (p.Ser314Ter) rs869312803 0.00001
NM_006393.3(NEBL):c.2820C>T (p.His940=) rs532565487 0.00001
NM_006393.3(NEBL):c.2913C>T (p.Asp971=) rs575423101 0.00001
NM_007078.3(LDB3):c.2091C>T (p.Cys697=) rs571356142 0.00001
NM_007078.3(LDB3):c.991G>A (p.Ala331Thr) rs749520121 0.00001
NM_007294.4(BRCA1):c.4910C>T (p.Pro1637Leu) rs80357048 0.00001
NM_007294.4(BRCA1):c.5074G>C (p.Asp1692His) rs80187739 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_013296.5(GPSM2):c.186C>T (p.Ser62=) rs199575734 0.00001
NM_014000.3(VCL):c.2852C>G (p.Pro951Arg) rs368570586 0.00001
NM_014000.3(VCL):c.874+13T>C rs777617736 0.00001
NM_014391.3(ANKRD1):c.256G>C (p.Asp86His) rs573892607 0.00001
NM_014391.3(ANKRD1):c.560C>T (p.Ser187Phe) rs397517251 0.00001
NM_014845.6(FIG4):c.2467C>T (p.Gln823Ter) rs745790694 0.00001
NM_015404.4(WHRN):c.376G>A (p.Ala126Thr) rs1444564272 0.00001
NM_015599.3(PGM3):c.1474C>T (p.Arg492Ter) rs144104577 0.00001
NM_016203.4(PRKAG2):c.42T>A (p.Val14=) rs141316327 0.00001
NM_016203.4(PRKAG2):c.531G>T (p.Leu177=) rs373000537 0.00001
NM_016203.4(PRKAG2):c.685-7C>A rs397517278 0.00001
NM_016239.4(MYO15A):c.4252G>A (p.Gly1418Arg) rs753790346 0.00001
NM_016239.4(MYO15A):c.4310A>G (p.Tyr1437Cys) rs749812958 0.00001
NM_016239.4(MYO15A):c.5693G>A (p.Arg1898Gln) rs756752580 0.00001
NM_016239.4(MYO15A):c.6437G>A (p.Arg2146Gln) rs760980785 0.00001
NM_016239.4(MYO15A):c.6669G>A (p.Ala2223=) rs558947304 0.00001
NM_016239.4(MYO15A):c.6787G>A (p.Gly2263Ser) rs375459945 0.00001
NM_016239.4(MYO15A):c.7893+1G>A rs727503316 0.00001
NM_017780.4(CHD7):c.5514G>A (p.Met1838Ile) rs374602567 0.00001
NM_020297.4(ABCC9):c.1603T>C (p.Tyr535His) rs397517184 0.00001
NM_022124.6(CDH23):c.10033A>C (p.Met3345Leu) rs368597074 0.00001
NM_022124.6(CDH23):c.1369C>T (p.Arg457Trp) rs727504455 0.00001
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys) rs745571683 0.00001
NM_022124.6(CDH23):c.3151G>A (p.Val1051Ile) rs876657439 0.00001
NM_022124.6(CDH23):c.4207-8G>T rs748187466 0.00001
NM_022124.6(CDH23):c.4662C>A (p.Asp1554Glu) rs771353319 0.00001
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser) rs183431253 0.00001
NM_022124.6(CDH23):c.6196C>T (p.Arg2066Trp) rs111033489 0.00001
NM_022124.6(CDH23):c.6465G>A (p.Ser2155=) rs373462599 0.00001
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu) rs397517349 0.00001
NM_022124.6(CDH23):c.6664C>T (p.Arg2222Cys) rs761082272 0.00001
NM_022124.6(CDH23):c.7055-15G>A rs371872394 0.00001
NM_022124.6(CDH23):c.8065-9C>T rs397517355 0.00001
NM_022124.6(CDH23):c.9738+6C>T rs727504562 0.00001
NM_022124.6(CDH23):c.9860G>A (p.Gly3287Asp) rs562590210 0.00001
NM_024334.3(TMEM43):c.1120_1121del (p.Leu374fs) rs746672224 0.00001
NM_024422.6(DSC2):c.1971C>A (p.Gly657=) rs397517396 0.00001
NM_024422.6(DSC2):c.267G>A (p.Ser89=) rs201363937 0.00001
NM_024422.6(DSC2):c.327A>G (p.Ile109Met) rs373305929 0.00001
NM_024422.6(DSC2):c.631-2A>G rs397514042 0.00001
NM_030662.4(MAP2K2):c.621G>A (p.Glu207=) rs397517416 0.00001
NM_030662.4(MAP2K2):c.814G>A (p.Ala272Thr) rs757240576 0.00001
NM_031448.6(C19orf12):c.172G>A (p.Gly58Arg) rs515726205 0.00001
NM_032119.4(ADGRV1):c.-26_-9del rs773996398 0.00001
NM_032119.4(ADGRV1):c.10066A>G (p.Ile3356Val) rs727503078 0.00001
NM_032119.4(ADGRV1):c.12424C>T (p.Arg4142Trp) rs534226753 0.00001
NM_032119.4(ADGRV1):c.12613T>G (p.Ser4205Ala) rs746448681 0.00001
NM_032119.4(ADGRV1):c.14185G>A (p.Asp4729Asn) rs778820230 0.00001
NM_032119.4(ADGRV1):c.14365C>T (p.Arg4789Trp) rs1131691924 0.00001
NM_032119.4(ADGRV1):c.17512G>A (p.Val5838Ile) rs727504913 0.00001
NM_032119.4(ADGRV1):c.17722G>A (p.Ala5908Thr) rs560274484 0.00001
NM_032119.4(ADGRV1):c.17857-11G>A rs918520562 0.00001
NM_032119.4(ADGRV1):c.1799A>G (p.Asn600Ser) rs876657823 0.00001
NM_032119.4(ADGRV1):c.18125A>G (p.Gln6042Arg) rs764963960 0.00001
NM_032119.4(ADGRV1):c.222C>T (p.Asp74=) rs181146384 0.00001
NM_032119.4(ADGRV1):c.2285G>A (p.Arg762His) rs757860505 0.00001
NM_032119.4(ADGRV1):c.2759G>A (p.Arg920Gln) rs766225545 0.00001
NM_032119.4(ADGRV1):c.2820A>G (p.Val940=) rs369910075 0.00001
NM_032119.4(ADGRV1):c.328G>A (p.Glu110Lys) rs876657822 0.00001
NM_032119.4(ADGRV1):c.3943C>A (p.Gln1315Lys) rs764685377 0.00001
NM_032119.4(ADGRV1):c.4373C>G (p.Thr1458Ser) rs562424836 0.00001
NM_032119.4(ADGRV1):c.4771A>G (p.Thr1591Ala) rs775471701 0.00001
NM_032119.4(ADGRV1):c.6275-9G>T rs1206365367 0.00001
NM_032119.4(ADGRV1):c.690A>C (p.Glu230Asp) rs397517434 0.00001
NM_032119.4(ADGRV1):c.7748A>G (p.Tyr2583Cys) rs778879752 0.00001
NM_032119.4(ADGRV1):c.8938T>C (p.Leu2980=) rs397517442 0.00001
NM_032119.4(ADGRV1):c.9181A>G (p.Ile3061Val) rs759038879 0.00001
NM_032119.4(ADGRV1):c.929G>A (p.Gly310Glu) rs766790920 0.00001
NM_032229.3(SLITRK6):c.1754C>T (p.Thr585Ile) rs1229145139 0.00001
NM_032861.4(SERAC1):c.262_265dup (p.Gly89fs) rs797045105 0.00001
NM_080680.3(COL11A2):c.1880G>A (p.Arg627Gln) rs528989984 0.00001
NM_080680.3(COL11A2):c.2808C>T (p.Thr936=) rs775487504 0.00001
NM_080680.3(COL11A2):c.2812C>T (p.Pro938Ser) rs764935691 0.00001
NM_080680.3(COL11A2):c.3799-9C>G rs762361602 0.00001
NM_080680.3(COL11A2):c.3878G>A (p.Arg1293Gln) rs727504832 0.00001
NM_080680.3(COL11A2):c.4495G>A (p.Glu1499Lys) rs727504543 0.00001
NM_080680.3(COL11A2):c.5084G>A (p.Arg1695Gln) rs781633250 0.00001
NM_080680.3(COL11A2):c.5121G>T (p.Gln1707His) rs138667578 0.00001
NM_133261.3(GIPC3):c.122C>A (p.Thr41Lys) rs727503062 0.00001
NM_133379.5(TTN):c.14902G>A (p.Asp4968Asn) rs371444691 0.00001
NM_138691.3(TMC1):c.1233G>A (p.Met411Ile) rs184603559 0.00001
NM_144672.4(OTOA):c.1880+1G>A rs148690740 0.00001
NM_144991.3(TSPEAR):c.802C>T (p.Arg268Ter) rs782471965 0.00001
NM_153676.4(USH1C):c.2410G>A (p.Ala804Thr) rs150593932 0.00001
NM_153676.4(USH1C):c.307C>T (p.Arg103Cys) rs397517880 0.00001
NM_153700.2(STRC):c.4425G>C (p.Trp1475Cys) rs727503443 0.00001
NM_170707.4(LMNA):c.1488+8G>A rs762836610 0.00001
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys) rs267607613 0.00001
NM_170707.4(LMNA):c.1699-8C>G rs727503137 0.00001
NM_170707.4(LMNA):c.1773C>T (p.Cys591=) rs397517897 0.00001
NM_173477.5(USH1G):c.1373A>T (p.Asp458Val) rs397517925 0.00001
NM_174936.4(PCSK9):c.1486C>T (p.Arg496Trp) rs374603772 0.00001
NM_178335.3(CCDC50):c.821G>A (p.Arg274Gln) rs199527848 0.00001
NM_181486.4(TBX5):c.710G>A (p.Arg237Gln) rs104894378 0.00001
NM_194248.3(OTOF):c.2248A>G (p.Lys750Glu) rs551919295 0.00001
NM_194248.3(OTOF):c.251T>C (p.Val84Ala) rs727505096 0.00001
NM_194248.3(OTOF):c.3864+1G>A rs758918226 0.00001
NM_194248.3(OTOF):c.5374C>T (p.Arg1792Cys) rs142111099 0.00001
NM_194248.3(OTOF):c.5375G>A (p.Arg1792His) rs111033349 0.00001
NM_194248.3(OTOF):c.5712+6C>G rs200435099 0.00001
NM_199037.3(SCN1B):c.751G>A (p.Val251Ile) rs193922728 0.00001
NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile) rs780308389 0.00001
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met) rs202175091 0.00001
NM_206933.4(USH2A):c.10724G>A (p.Cys3575Tyr) rs111033265 0.00001
NM_206933.4(USH2A):c.1139A>G (p.Tyr380Cys) rs111033395 0.00001
NM_206933.4(USH2A):c.12625G>A (p.Glu4209Lys) rs141943290 0.00001
NM_206933.4(USH2A):c.13097C>T (p.Ala4366Val) rs727505097 0.00001
NM_206933.4(USH2A):c.13130C>A (p.Ser4377Ter) rs111033385 0.00001
NM_206933.4(USH2A):c.13430A>G (p.Tyr4477Cys) rs921800139 0.00001
NM_206933.4(USH2A):c.13622A>C (p.Gln4541Pro) rs143032902 0.00001
NM_206933.4(USH2A):c.14602G>A (p.Val4868Met) rs727504686 0.00001
NM_206933.4(USH2A):c.15546C>T (p.Asn5182=) rs546494522 0.00001
NM_206933.4(USH2A):c.3408T>A (p.Ser1136Arg) rs1064793287 0.00001
NM_206933.4(USH2A):c.4313G>A (p.Arg1438Lys) rs876657627 0.00001
NM_206933.4(USH2A):c.4378G>A (p.Gly1460Arg) rs139311927 0.00001
NM_206933.4(USH2A):c.4837A>G (p.Ile1613Val) rs397518017 0.00001
NM_206933.4(USH2A):c.553A>G (p.Met185Val) rs770266757 0.00001
NM_206933.4(USH2A):c.652-9T>G rs1231791432 0.00001
NM_206933.4(USH2A):c.653T>A (p.Val218Glu) rs397518026 0.00001
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe) rs41315579 0.00001
NM_206933.4(USH2A):c.8098G>A (p.Val2700Ile) rs778655083 0.00001
NM_206933.4(USH2A):c.8681+1G>A rs876657733 0.00001
NM_206933.4(USH2A):c.8993C>G (p.Ser2998Cys) rs559922535 0.00001
NM_206933.4(USH2A):c.9259-14A>C rs561590242 0.00001
NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg) rs111033263 0.00001
NC_012920.1:m.1494C>T rs267606619
NC_012920.1:m.1555A>G rs267606617
NM_000022.4(ADA):c.532del (p.Val177_Val178insTer) rs886041796
NM_000026.4(ADSL):c.153+1G>T rs1555903969
NM_000049.4(ASPA):c.876_879del (p.Glu293fs) rs766720790
NM_000051.4(ATM):c.3285-9del rs1799757
NM_000051.4(ATM):c.3403-13dup rs3218681
NM_000059.4(BRCA2):c.4143AGA[1] (p.Glu1382del) rs80359432
NM_000059.4(BRCA2):c.7976+1G>A rs81002873
NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val) rs80359031
NM_000059.4(BRCA2):c.8755-1G>A rs81002812
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys) rs80359152
NM_000063.6(C2):c.841_849+19del rs9332736
NM_000069.3(CACNA1S):c.2691G>T (p.Arg897Ser) rs80338779
NM_000069.3(CACNA1S):c.5104C>T (p.Arg1702Ter) rs550371466
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA
NM_000081.4(LYST):c.11268-5del rs36014994
NM_000090.4(COL3A1):c.1384G>A (p.Gly462Ser) rs587779633
NM_000090.4(COL3A1):c.1763G>A (p.Gly588Asp) rs587779691
NM_000090.4(COL3A1):c.2002C>A (p.Pro668Thr) rs1801183
NM_000090.4(COL3A1):c.2267G>A (p.Gly756Glu) rs1576468562
NM_000091.5(COL4A3):c.3825C>T (p.His1275=) rs143380907
NM_000092.5(COL4A4):c.2367A>T (p.Gly789=) rs56247709
NM_000092.5(COL4A4):c.2647C>A (p.Pro883Thr) rs200761108
NM_000092.5(COL4A4):c.4760C>G (p.Pro1587Arg) rs190148408
NM_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs) rs556794126
NM_000116.5(TAFAZZIN):c.328T>C (p.Ser110Pro) rs397515739
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp) rs727504327
NM_000116.5(TAFAZZIN):c.590G>A (p.Gly197Glu) rs397515746
NM_000135.4(FANCA):c.987_990del (p.His330fs) rs772359099
NM_000138.5(FBN1):c.1453C>T (p.Arg485Cys) rs137854485
NM_000138.5(FBN1):c.1468+5G>A rs397515757
NM_000138.5(FBN1):c.1846G>A (p.Glu616Lys) rs397515764
NM_000138.5(FBN1):c.184C>T (p.Arg62Cys) rs25403
NM_000138.5(FBN1):c.2055C>G (p.Cys685Trp) rs140603
NM_000138.5(FBN1):c.2495G>A (p.Cys832Tyr) rs397515775
NM_000138.5(FBN1):c.3012C>G (p.Tyr1004Ter) rs397515784
NM_000138.5(FBN1):c.3037G>A (p.Gly1013Arg) rs140593
NM_000138.5(FBN1):c.3337+1G>A rs397515789
NM_000138.5(FBN1):c.3413G>T (p.Cys1138Phe) rs397515791
NM_000138.5(FBN1):c.3656A>G (p.Tyr1219Cys) rs1555398394
NM_000138.5(FBN1):c.4016G>C (p.Cys1339Ser) rs397515798
NM_000138.5(FBN1):c.4222T>C (p.Cys1408Arg) rs397515802
NM_000138.5(FBN1):c.4259G>A (p.Cys1420Tyr) rs397515804
NM_000138.5(FBN1):c.4467T>A (p.Asn1489Lys) rs193922205
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys) rs111401431
NM_000138.5(FBN1):c.4955G>A (p.Cys1652Tyr) rs397515817
NM_000138.5(FBN1):c.5066del (p.Asp1689fs) rs727504347
NM_000138.5(FBN1):c.5840G>A (p.Cys1947Tyr) rs397515828
NM_000138.5(FBN1):c.5959G>C (p.Gly1987Arg) rs727504642
NM_000138.5(FBN1):c.6119G>A (p.Cys2040Tyr) rs397515830
NM_000138.5(FBN1):c.6379+1G>A rs397515833
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter) rs113001196
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser) rs363835
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys) rs137854480
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg) rs363811
NM_000138.5(FBN1):c.7606G>A (p.Gly2536Arg) rs397515854
NM_000138.5(FBN1):c.7955G>A (p.Cys2652Tyr) rs397515859
NM_000140.5(FECH):c.163G>T (p.Gly55Cys) rs3848519
NM_000143.4(FH):c.1237-50TC[20] rs144131869
NM_000143.4(FH):c.1237-50TC[21] rs144131869
NM_000147.5(FUCA1):c.29C>G (p.Pro10Arg) rs2070956
NM_000162.5(GCK):c.645C>A (p.Tyr215Ter) rs144723656
NM_000169.3(GLA):c.1102G>A (p.Ala368Thr) rs144994244
NM_000169.3(GLA):c.386T>C (p.Leu129Pro) rs727503072
NM_000169.3(GLA):c.427G>C (p.Ala143Pro) rs104894845
NM_000169.3(GLA):c.613C>A (p.Pro205Thr) rs397515870
NM_000169.3(GLA):c.70T>A (p.Trp24Arg) rs397515871
NM_000169.3(GLA):c.758T>C (p.Ile253Thr) rs727505292
NM_000169.3(GLA):c.901C>G (p.Arg301Gly) rs398123224
NM_000170.3(GLDC):c.2033_2035del (p.Ala678del) rs769625871
NM_000179.3(MSH6):c.1109T>C (p.Leu370Ser) rs587779204
NM_000179.3(MSH6):c.2927G>A (p.Arg976His) rs63751113
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.3259C>T (p.Pro1087Ser) rs63750998
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3439-2A>G rs267608098
NM_000179.3(MSH6):c.3758T>A (p.Val1253Glu) rs202066386
NM_000179.3(MSH6):c.866_867delinsAA (p.Gly289Glu) rs267608079
NM_000195.5(HPS1):c.972dup (p.Met325fs) rs281865082
NM_000213.5(ITGB4):c.2783-2A>G rs758551913
NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp) rs199473411
NM_000218.3(KCNQ1):c.1129-8G>A rs200612600
NM_000218.3(KCNQ1):c.1343C>G (p.Pro448Arg) rs12720449
NM_000218.3(KCNQ1):c.1343C>T (p.Pro448Leu) rs12720449
NM_000218.3(KCNQ1):c.1394-8C>T rs371488379
NM_000218.3(KCNQ1):c.160_168dup (p.Ile54_Pro56dup) rs397515877
NM_000218.3(KCNQ1):c.1746T>C (p.Asp582=) rs569971691
NM_000218.3(KCNQ1):c.1780C>T (p.Arg594Ter) rs794728537
NM_000218.3(KCNQ1):c.1893dup (p.Arg632fs) rs397508104
NM_000218.3(KCNQ1):c.1986C>G (p.Tyr662Ter) rs11601907
NM_000218.3(KCNQ1):c.1986C>T (p.Tyr662=) rs11601907
NM_000218.3(KCNQ1):c.207G>T (p.Ala69=) rs587781009
NM_000218.3(KCNQ1):c.403del (p.Val135fs) rs794728565
NM_000218.3(KCNQ1):c.488del (p.Leu163fs) rs397508112
NM_000218.3(KCNQ1):c.513C>T (p.Tyr171=) rs139042529
NM_000218.3(KCNQ1):c.531C>T (p.Ser177=) rs757713526
NM_000218.3(KCNQ1):c.557G>A (p.Gly186Asp) rs794728568
NM_000218.3(KCNQ1):c.781-19TG[2] rs727503103
NM_000219.6(KCNE1):c.199C>T (p.Arg67Cys) rs199473645
NM_000228.3(LAMB3):c.3119G>A (p.Trp1040Ter) rs1057516759
NM_000231.3(SGCG):c.195+4_195+7del rs797045106
NM_000238.4(KCNH2):c.2246G>T (p.Gly749Val) rs199472989
NM_000238.4(KCNH2):c.2398+105del rs546898924
NM_000238.4(KCNH2):c.2592+3G>A rs906562788
NM_000238.4(KCNH2):c.2771G>C (p.Gly924Ala) rs199473009
NM_000238.4(KCNH2):c.551GCGCGGGCG[1] (p.184GAG[1]) rs551056698
NM_000249.4(MLH1):c.1268G>A (p.Arg423Lys) rs370687064
NM_000249.4(MLH1):c.1668-1G>A rs267607845
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr) rs63750449
NM_000251.3(MSH2):c.1251_1268delinsAGTT (p.Ile418fs) rs863225388
NM_000251.3(MSH2):c.942+20_942+29del rs11309117
NM_000256.3(MYBPC3):c.1483C>G (p.Arg495Gly) rs397515905
NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp) rs397515905
NM_000256.3(MYBPC3):c.1505G>T (p.Arg502Leu) rs397515907
NM_000256.3(MYBPC3):c.1510AAG[1] (p.Lys505del) rs727504287
NM_000256.3(MYBPC3):c.1654G>T (p.Ala552Ser) rs727504887
NM_000256.3(MYBPC3):c.1776G>A (p.Val592=) rs727503196
NM_000256.3(MYBPC3):c.1934C>T (p.Pro645Leu) rs397515938
NM_000256.3(MYBPC3):c.2148+6_2148+9del rs397515949
NM_000256.3(MYBPC3):c.2905+5G>T rs193922381
NM_000256.3(MYBPC3):c.2906-2A>G rs727504333
NM_000256.3(MYBPC3):c.290C>T (p.Ala97Val) rs397515993
NM_000256.3(MYBPC3):c.3229G>A (p.Ala1077Thr) rs397516009
NM_000256.3(MYBPC3):c.3315C>T (p.Ala1105=) rs200372325
NM_000256.3(MYBPC3):c.3330+5G>T rs373746463
NM_000256.3(MYBPC3):c.3331-1G>A rs727504305
NM_000256.3(MYBPC3):c.3628-41_3628-17del rs36212066
NM_000256.3(MYBPC3):c.3735del (p.Phe1246fs) rs397516038
NM_000256.3(MYBPC3):c.3746G>T (p.Gly1249Val) rs727504259
NM_000256.3(MYBPC3):c.3771C>A (p.Asn1257Lys) rs730880603
NM_000256.3(MYBPC3):c.3825A>G (p.Ter1275Trp) rs727504380
NM_000256.3(MYBPC3):c.3G>C (p.Met1Ile) rs397516045
NM_000256.3(MYBPC3):c.503T>C (p.Val168Ala) rs727505267
NM_000256.3(MYBPC3):c.506-12del rs11570050
NM_000256.3(MYBPC3):c.558G>T (p.Pro186=) rs370962887
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu) rs397516068
NM_000256.3(MYBPC3):c.821+3G>T rs727503213
NM_000256.3(MYBPC3):c.821+5G>A rs397516077
NM_000256.3(MYBPC3):c.833del (p.Gly278fs) rs727503212
NM_000256.3(MYBPC3):c.852-10C>G rs750425291
NM_000256.3(MYBPC3):c.927-10C>A rs201078659
NM_000256.3(MYBPC3):c.933G>A (p.Ser311=) rs374326087
NM_000256.3(MYBPC3):c.933G>C (p.Ser311=) rs374326087
NM_000257.4(MYH7):c.1012G>A (p.Val338Met) rs727503271
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr) rs397516088
NM_000257.4(MYH7):c.1148A>G (p.Lys383Arg) rs397516092
NM_000257.4(MYH7):c.1166G>A (p.Gly389Glu) rs727503268
NM_000257.4(MYH7):c.1180G>A (p.Asp394Asn) rs397516093
NM_000257.4(MYH7):c.1283C>T (p.Ala428Val) rs727503266
NM_000257.4(MYH7):c.1318G>A (p.Val440Met) rs397516098
NM_000257.4(MYH7):c.1436A>G (p.Asn479Ser) rs727504236
NM_000257.4(MYH7):c.1477A>G (p.Met493Val) rs730880875
NM_000257.4(MYH7):c.1532T>C (p.Ile511Thr) rs397516110
NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys) rs606231324
NM_000257.4(MYH7):c.1755C>A (p.Ile585=) rs201860580
NM_000257.4(MYH7):c.1757T>C (p.Val586Ala) rs397516121
NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys) rs727503263
NM_000257.4(MYH7):c.2052G>A (p.Met684Ile) rs727503262
NM_000257.4(MYH7):c.2069T>C (p.Met690Thr) rs397516128
NM_000257.4(MYH7):c.2105T>A (p.Ile702Asn) rs397516132
NM_000257.4(MYH7):c.2129C>A (p.Pro710His) rs727504272
NM_000257.4(MYH7):c.2129C>T (p.Pro710Leu) rs727504272
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln) rs121913641
NM_000257.4(MYH7):c.2198G>A (p.Gly733Glu) rs727504241
NM_000257.4(MYH7):c.2207T>C (p.Ile736Thr) rs727503261
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg) rs121913632
NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp) rs121913632
NM_000257.4(MYH7):c.2287G>A (p.Val763Met) rs727504253
NM_000257.4(MYH7):c.2358G>T (p.Thr786=) rs36211714
NM_000257.4(MYH7):c.2471T>C (p.Val824Ala) rs727503255
NM_000257.4(MYH7):c.2497T>C (p.Tyr833His) rs730880746
NM_000257.4(MYH7):c.2525G>A (p.Ser842Asn) rs397516154
NM_000257.4(MYH7):c.2539A>G (p.Lys847Glu) rs727504310
NM_000257.4(MYH7):c.2539_2541del (p.Lys847del) rs397516155
NM_000257.4(MYH7):c.2572C>G (p.Arg858Gly) rs2754158
NM_000257.4(MYH7):c.2602G>C (p.Ala868Pro) rs727504356
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys) rs138049878
NM_000257.4(MYH7):c.2649GAA[1] (p.Lys884del) rs193922387
NM_000257.4(MYH7):c.2678C>A (p.Ala893Glu) rs727503254
NM_000257.4(MYH7):c.2678C>T (p.Ala893Val) rs727503254
NM_000257.4(MYH7):c.2711G>A (p.Arg904His) rs397516165
NM_000257.4(MYH7):c.2779G>A (p.Glu927Lys) rs397516170
NM_000257.4(MYH7):c.2782G>A (p.Asp928Asn) rs727503252
NM_000257.4(MYH7):c.2785GAG[2] (p.Glu931del) rs397516172
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln) rs397516171
NM_000257.4(MYH7):c.3134G>T (p.Arg1045Leu) rs397516178
NM_000257.4(MYH7):c.3337-4dup rs45504498
NM_000257.4(MYH7):c.3346G>A (p.Glu1116Lys) rs727504274
NM_000257.4(MYH7):c.3770A>G (p.Asn1257Ser) rs574005462
NM_000257.4(MYH7):c.396G>T (p.Pro132=) rs138932714
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys) rs141764279
NM_000257.4(MYH7):c.4124A>G (p.Tyr1375Cys) rs727503245
NM_000257.4(MYH7):c.4188G>T (p.Arg1396=) rs200852418
NM_000257.4(MYH7):c.4259G>A (p.Arg1420Gln) rs397516207
NM_000257.4(MYH7):c.4276G>A (p.Glu1426Lys) rs397516208
NM_000257.4(MYH7):c.4354-7C>T rs370093487
NM_000257.4(MYH7):c.438G>T (p.Lys146Asn) rs397516212
NM_000257.4(MYH7):c.4399C>G (p.Leu1467Val) rs397516214
NM_000257.4(MYH7):c.4470G>C (p.Glu1490Asp) rs730880911
NM_000257.4(MYH7):c.4985G>A (p.Arg1662His) rs370328209
NM_000257.4(MYH7):c.506G>A (p.Arg169Lys) rs397516237
NM_000257.4(MYH7):c.5134C>T (p.Arg1712Trp) rs121913650
NM_000257.4(MYH7):c.5380C>G (p.Gln1794Glu) rs397516247
NM_000257.4(MYH7):c.5399C>T (p.Ala1800Val) rs730880817
NM_000257.4(MYH7):c.5421C>T (p.Gly1807=) rs142844109
NM_000257.4(MYH7):c.5726G>C (p.Arg1909Pro) rs397516253
NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys) rs397516254
NM_000257.4(MYH7):c.596C>T (p.Ala199Val) rs727504283
NM_000257.4(MYH7):c.611G>T (p.Arg204Leu) rs397516260
NM_000257.4(MYH7):c.686C>T (p.Ala229Val) rs876657888
NM_000257.4(MYH7):c.707T>C (p.Val236Ala) rs397516262
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn) rs397516264
NM_000257.4(MYH7):c.725C>G (p.Ser242Cys) rs730880921
NM_000257.4(MYH7):c.740T>G (p.Phe247Cys) rs730880922
NM_000257.4(MYH7):c.743T>C (p.Ile248Thr) rs727504280
NM_000257.4(MYH7):c.848A>G (p.Tyr283Cys) rs727503274
NM_000257.4(MYH7):c.968T>A (p.Ile323Asn) rs397516275
NM_000258.3(MYL3):c.170C>A (p.Ala57Asp) rs139794067
NM_000258.3(MYL3):c.170C>G (p.Ala57Gly) rs139794067
NM_000258.3(MYL3):c.477G>T (p.Thr159=) rs148365503
NM_000260.4(MYO7A):c.1117C>T (p.Arg373Cys) rs868979094
NM_000260.4(MYO7A):c.1200+1G>A rs397516283
NM_000260.4(MYO7A):c.132+5G>A rs397516284
NM_000260.4(MYO7A):c.133-7C>T rs111033221
NM_000260.4(MYO7A):c.1343+8G>T rs2276278
NM_000260.4(MYO7A):c.1543A>C (p.Lys515Gln) rs782023308
NM_000260.4(MYO7A):c.1690+1G>A rs111033389
NM_000260.4(MYO7A):c.1868G>A (p.Arg623His) rs111033416
NM_000260.4(MYO7A):c.1903T>C (p.Cys635Arg) rs797044514
NM_000260.4(MYO7A):c.2094+1G>A rs111033404
NM_000260.4(MYO7A):c.2283-1G>T rs397516295
NM_000260.4(MYO7A):c.2447G>A (p.Arg816His) rs148343670
NM_000260.4(MYO7A):c.247C>A (p.Arg83Ser) rs781790246
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp) rs200454015
NM_000260.4(MYO7A):c.2759G>T (p.Arg920Leu) rs565162134
NM_000260.4(MYO7A):c.285+2T>C rs782292032
NM_000260.4(MYO7A):c.2904G>A (p.Glu968=) rs111033233
NM_000260.4(MYO7A):c.3532del (p.Gln1178fs) rs111033239
NM_000260.4(MYO7A):c.3543_3544dup (p.Asn1182fs) rs111033390
NM_000260.4(MYO7A):c.3591_3592del (p.Cys1198fs) rs1555090368
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg) rs727503329
NM_000260.4(MYO7A):c.3979G>A (p.Glu1327Lys) rs373169422
NM_000260.4(MYO7A):c.397C>T (p.His133Tyr) rs111033403
NM_000260.4(MYO7A):c.397dup (p.His133fs) rs111033187
NM_000260.4(MYO7A):c.4153-7C>A rs369489756
NM_000260.4(MYO7A):c.4153-8C>G rs143216377
NM_000260.4(MYO7A):c.4411T>C (p.Ser1471Pro) rs397516310
NM_000260.4(MYO7A):c.4544_4551delinsCA (p.Glu1515_Met1517delinsAla) rs111033259
NM_000260.4(MYO7A):c.5208dup (p.Lys1737fs) rs111033276
NM_000260.4(MYO7A):c.5227C>A (p.Arg1743=) rs111033287
NM_000260.4(MYO7A):c.5227C>T (p.Arg1743Trp) rs111033287
NM_000260.4(MYO7A):c.5263G>A (p.Ala1755Thr) rs762131185
NM_000260.4(MYO7A):c.5327-11A>G rs397516316
NM_000260.4(MYO7A):c.5598C>A (p.Leu1866=) rs111033504
NM_000260.4(MYO7A):c.5824G>A (p.Gly1942Arg) rs111033192
NM_000260.4(MYO7A):c.6025G>A (p.Ala2009Thr) rs397516325
NM_000260.4(MYO7A):c.6062A>G (p.Lys2021Arg) rs876657655
NM_000260.4(MYO7A):c.6614_6634dup (p.Met2205_Ser2211dup) rs111033388
NM_000260.4(MYO7A):c.689C>T (p.Ala230Val) rs797044512
NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln) rs797044491
NM_000264.5(PTCH1):c.3944C>T (p.Pro1315Leu) rs357564
NM_000270.4(PNP):c.286-18G>A rs1026474882
NM_000271.5(NPC1):c.1312C>T (p.Gln438Ter) rs750292546
NM_000271.5(NPC1):c.3410dup (p.Asn1137fs) rs768299417
NM_000271.5(NPC1):c.3614C>G (p.Thr1205Arg) rs758902805
NM_000307.5(POU3F4):c.249C>A (p.Pro83=) rs370722742
NM_000307.5(POU3F4):c.341G>A (p.Trp114Ter) rs111033343
NM_000308.4(CTSA):c.33GCT[7] (p.Leu19del) rs72555383
NM_000313.4(PROS1):c.1501T>C (p.Ser501Pro) rs121918472
NM_000314.8(PTEN):c.522T>G (p.Tyr174Ter) rs786201867
NM_000314.8(PTEN):c.635-3C>G rs1085308056
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu) rs587782350
NM_000314.8(PTEN):c.802-3del rs34003473
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423
NM_000335.5(SCN5A):c.1715C>T (p.Ala572Val) rs36210423
NM_000335.5(SCN5A):c.1756_1761del (p.Ala586_Leu587del) rs397517953
NM_000335.5(SCN5A):c.2533del (p.Val845fs) rs794728912
NM_000335.5(SCN5A):c.283G>A (p.Val95Ile) rs199473054
NM_000335.5(SCN5A):c.3282G>A (p.Trp1094Ter) rs759924541
NM_000335.5(SCN5A):c.3904C>A (p.Arg1302=) rs200334972
NM_000335.5(SCN5A):c.4242+1G>C rs794728879
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000335.5(SCN5A):c.703+6A>G rs781104838
NM_000337.6(SGCD):c.105G>C (p.Leu35=) rs193922392
NM_000337.6(SGCD):c.383-11A>T rs727504584
NM_000337.6(SGCD):c.699+13_699+15del rs397517924
NM_000341.4(SLC3A1):c.1750del (p.Arg584fs) rs775827496
NM_000363.5(TNNI3):c.12-7del rs370714315
NM_000363.5(TNNI3):c.204del (p.Arg69fs) rs727504872
NM_000363.5(TNNI3):c.485G>C (p.Arg162Pro) rs397516354
NM_000363.5(TNNI3):c.488C>T (p.Ala163Val) rs727504367
NM_000363.5(TNNI3):c.544G>A (p.Glu182Lys) rs397516355
NM_000363.5(TNNI3):c.602T>C (p.Met201Thr) rs727504365
NM_000363.5(TNNI3):c.611G>A (p.Arg204His) rs727504275
NM_000368.5(TSC1):c.733C>T (p.Arg245Ter) rs118203434
NM_000370.3(TTPA):c.19del (p.Gln7fs) rs760014795
NM_000371.4(TTR):c.337-14_337-11del rs112263266
NM_000371.4(TTR):c.418G>T (p.Ala140Ser) rs876658108
NM_000371.4(TTR):c.421GTC[1] (p.Val142del) rs121918096
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675
NM_000384.3(APOB):c.10913G>A (p.Arg3638Gln)
NM_000384.3(APOB):c.11477C>T (p.Thr3826Met)
NM_000384.3(APOB):c.11761G>A (p.Val3921Ile)
NM_000384.3(APOB):c.1223T>C (p.Ile408Thr)
NM_000384.3(APOB):c.2981C>T (p.Pro994Leu)
NM_000384.3(APOB):c.3337G>C (p.Asp1113His)
NM_000384.3(APOB):c.3427C>T (p.Pro1143Ser)
NM_000384.3(APOB):c.5066G>A (p.Arg1689His)
NM_000384.3(APOB):c.5741A>G (p.Asn1914Ser)
NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del) rs541497967
NM_000384.3(APOB):c.6895G>C (p.Asp2299His)
NM_000384.3(APOB):c.7285T>A (p.Ser2429Thr)
NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly)
NM_000395.3(CSF2RB):c.2124del (p.Ser709fs) rs568607741
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr) rs28943591
NM_000432.4(MYL2):c.274+9GT[10] rs142567411
NM_000441.2(SLC26A4):c.1204G>A (p.Val402Met) rs397516414
NM_000441.2(SLC26A4):c.1264-1G>C rs111033311
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del) rs111033306
NM_000441.2(SLC26A4):c.1308_1313del (p.Ala437_Leu438del) rs111033207
NM_000441.2(SLC26A4):c.1437+2T>G rs397516418
NM_000441.2(SLC26A4):c.1545-14_1545-12del rs397516419
NM_000441.2(SLC26A4):c.1707+6T>C rs727505230
NM_000441.2(SLC26A4):c.170C>G (p.Ser57Ter) rs111033200
NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln) rs111033318
NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn) rs397516427
NM_000441.2(SLC26A4):c.260A>G (p.Asp87Gly) rs111033344
NM_000441.2(SLC26A4):c.589G>A (p.Gly197Arg) rs111033380
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000441.2(SLC26A4):c.765+2T>C rs397516432
NM_000441.2(SLC26A4):c.85G>T (p.Glu29Ter) rs111033205
NM_000441.2(SLC26A4):c.918+1G>T rs111033245
NM_000455.5(STK11):c.465-4G>A rs587780009
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)
NM_000463.3(UGT1A1):c.686C>A (p.Pro229Gln) rs35350960
NM_000466.3(PEX1):c.2584-10del rs5885806
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.1210-12T[9] rs1805177
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.4(CFTR):c.489+8T>C rs727504712
NM_000497.4(CYP11B1):c.1120C>A (p.Arg374=) rs61752786
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000501.4(ELN):c.1264G>A (p.Gly422Ser) rs2071307
NM_000501.4(ELN):c.1415-9A>G rs727503032
NM_000501.4(ELN):c.1741G>C (p.Gly581Arg) rs17855988
NM_000501.4(ELN):c.1858G>T (p.Gly620Ter) rs727503034
NM_000503.6(EYA1):c.647C>G (p.Pro216Arg) rs200923204
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
NM_000527.5(LDLR):c.148G>A (p.Ala50Thr) rs137853960
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.5(LDLR):c.1706-10G>A
NM_000527.5(LDLR):c.1836C>T (p.Ala612=) rs143872778
NM_000527.5(LDLR):c.534T>G (p.Asp178Glu) rs879254566
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
NM_000528.4(MAN2B1):c.1503C>A (p.Cys501Ter) rs886054230
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000528.4(MAN2B1):c.935C>T (p.Thr312Ile) rs1054487
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_000535.7(PMS2):c.706-4del rs60794673
NM_000540.3(RYR1):c.10188C>T (p.Asp3396=) rs2229145
NM_000543.5(SMPD1):c.108GCTGGC[5] (p.38AL[5]) rs3838786
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg) rs202081954
NM_000546.6(TP53):c.1040C>A (p.Ala347Asp) rs397516434
NM_000546.6(TP53):c.31G>C (p.Glu11Gln) rs201382018
NM_000546.6(TP53):c.380C>T (p.Ser127Phe) rs730881999
NM_000546.6(TP53):c.920-2A>G rs397516439
NM_000546.6(TP53):c.949C>T (p.Gln317Ter) rs764735889
NM_000548.5(TSC2):c.2632C>T (p.Pro878Ser) rs397515077
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del) rs137854239
NM_000548.5(TSC2):c.5068+27_5069-47del
NM_000548.5(TSC2):c.5106C>A (p.Ile1702=) rs45483700
NM_000548.5(TSC2):c.5397G>C (p.Ser1799=) rs1051771
NM_000551.4(VHL):c.-61_-51dup rs727503743
NM_000551.4(VHL):c.208G>A (p.Glu70Lys) rs5030802
NM_000551.4(VHL):c.224TCT[1] (p.Phe76del) rs5030648
NM_000551.4(VHL):c.256C>T (p.Pro86Ser) rs398123481
NM_000551.4(VHL):c.433_439del (p.Gln145fs) rs1559428217
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000601.6(HGF):c.1041-12T>C rs546227025
NM_000709.4(BCKDHA):c.511del (p.Leu171fs) rs762084007
NM_001001430.3(TNNT2):c.68-1623_68-1621delinsTT rs397516362
NM_001004334.4(GPR179):c.3138_3139del (p.Glu1046fs) rs776189685
NM_001004334.4(GPR179):c.984del (p.Ser329fs) rs770066665
NM_001004482.1(OR13C5):c.243G>C (p.Thr81=) rs75081605
NM_001005242.3(PKP2):c.1114G>C (p.Ala372Pro) rs200586695
NM_001005242.3(PKP2):c.1170+4_1170+7del rs397516988
NM_001005242.3(PKP2):c.1442T>G (p.Leu481Arg) rs397516998
NM_001005242.3(PKP2):c.1556+9A>G rs397517004
NM_001005242.3(PKP2):c.1557-8dup rs200009796
NM_001005242.3(PKP2):c.2037A>G (p.Thr679=) rs377504106
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser) rs139734328
NM_001005242.3(PKP2):c.2377del (p.Ser793fs) rs727504432
NM_001005242.3(PKP2):c.2446-10dup rs397517024
NM_001005242.3(PKP2):c.2499C>A (p.His833Gln) rs202094467
NM_001006658.3(CR2):c.524C>T (p.Pro175Leu) rs75282758
NM_001010867.4(IBA57):c.323A>C (p.Tyr108Ser) rs781627051
NM_001015878.2(AURKC):c.94_101dup (p.Met35fs) rs749123022
NM_001018005.2(TPM1):c.457C>G (p.His153Asp) rs397516372
NM_001018005.2(TPM1):c.46G>C (p.Glu16Gln) rs727504290
NM_001018005.2(TPM1):c.533G>A (p.Arg178His) rs397516375
NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys) rs199476315
NM_001018005.2(TPM1):c.609C>G (p.Asn203Lys) rs397516486
NM_001018005.2(TPM1):c.639+13del rs397516488
NM_001018005.2(TPM1):c.655G>A (p.Asp219Asn) rs727503518
NM_001018005.2(TPM1):c.725C>T (p.Ala242Val) rs397516387
NM_001032283.3(TMPO):c.396T>A (p.Gly132=) rs397516844
NM_001034853.2(RPGR):c.1576CAA[1] (p.Gln527del) rs62653033
NM_001034853.2(RPGR):c.2667_2669del (p.Glu890del) rs199663434
NM_001035.2(RYR2):c.14091-11dup rs35563566
NM_001035.3(RYR2):c.10046C>T (p.Ser3349Leu) rs786205455
NM_001035.3(RYR2):c.11092-11del rs397516499
NM_001035.3(RYR2):c.11092-11dup rs397516499
NM_001035.3(RYR2):c.12609G>T (p.Ala4203=) rs372943408
NM_001035.3(RYR2):c.14481C>A (p.Ile4827=) rs114303476
NM_001035.3(RYR2):c.14591-9del rs876657987
NM_001035.3(RYR2):c.14757-7_14757-6delinsAT rs727504630
NM_001035.3(RYR2):c.1477-11del rs397516518
NM_001035.3(RYR2):c.1477-11dup rs397516518
NM_001035.3(RYR2):c.3599-9del rs11331089
NM_001035.3(RYR2):c.385-9A>C rs140998248
NM_001035.3(RYR2):c.4597-11del rs3841805
NM_001035.3(RYR2):c.4734C>T (p.Pro1578=) rs201880756
NM_001035.3(RYR2):c.5154G>A (p.Arg1718=) rs114534505
NM_001035.3(RYR2):c.6555+8C>G rs1759122
NM_001035.3(RYR2):c.7161G>A (p.Ala2387=) rs371560909
NM_001035.3(RYR2):c.7222-12dup rs145140335
NM_001035.3(RYR2):c.9601G>A (p.Val3201Met) rs762549821
NM_001038.6(SCNN1A):c.540_541delinsTT (p.Arg181Trp) rs876657425
NM_001038603.3(MARVELD2):c.504A>G (p.Thr168=) rs568560843
NM_001039141.3(TRIOBP):c.4703C>G (p.Ala1568Gly) rs569914227
NM_001039141.3(TRIOBP):c.6936+13G>T rs727503529
NM_001039213.4(CEACAM16):c.1249G>C (p.Val417Leu) rs199597608
NM_001039876.3(SYNE4):c.1025A>G (p.Asn342Ser) rs200948076
NM_001042413.2(GLIS3):c.571_572dup (p.Leu191_Asn192insTer) rs1586744173
NM_001042492.3(NF1):c.2288T>C (p.Leu763Pro) rs199474762
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) rs267606606
NM_001042492.3(NF1):c.6147+8C>G rs182709912
NM_001042545.2(LTBP4):c.56_67dup (p.Leu19_Gln22dup) rs1220133830
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs) rs587780078
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=) rs121908380
NM_001048174.2(MUTYH):c.775del (p.Ala259fs) rs761468459
NM_001077365.2(POMT1):c.123-5dup rs148086540
NM_001079668.3(NKX2-1):c.584G>A (p.Arg195Gln) rs1555349228
NM_001081.4(CUBN):c.5913_5916del (p.Thr1972fs) rs765301342
NM_001089.3(ABCA3):c.1502C>A (p.Ala501Glu) rs141621969
NM_001099404.2(SCN5A):c.615T>A (p.Tyr205Ter) rs765669597
NM_001101426.4(CRPPA):c.685-25GTT[6] rs142647500
NM_001103.4(ACTN2):c.1426G>A (p.Ala476Thr) rs142943120
NM_001103.4(ACTN2):c.18C>A (p.Pro6=) rs368367224
NM_001103.4(ACTN2):c.1975-6C>A rs201255023
NM_001103.4(ACTN2):c.1975-6C>G rs201255023
NM_001103.4(ACTN2):c.2587A>C (p.Ile863Leu) rs397516577
NM_001103146.3(GIGYF2):c.3629_3630insGC (p.Gln1211fs) rs371622656
NM_001105206.3(LAMA4):c.106A>G (p.Ile36Val) rs727503116
NM_001105206.3(LAMA4):c.140C>T (p.Pro47Leu) rs727503115
NM_001105206.3(LAMA4):c.1647A>C (p.Ser549=) rs149459643
NM_001105206.3(LAMA4):c.264C>T (p.Ser88=) rs201152817
NM_001110219.3(GJB6):c.689dup (p.Asn230fs) rs398124237
NM_001114753.3(ENG):c.321_322delinsTT (p.His108Tyr) rs1060501425
NM_001114753.3(ENG):c.909C>T (p.Ala303=) rs200306464
NM_001122659.3(EDNRB):c.778G>A (p.Val260Ile) rs77132068
NM_001127453.2(GSDME):c.1274ATG[1] (p.Asp426del) rs374353052
NM_001127453.2(GSDME):c.991T>C (p.Cys331Arg) rs373787249
NM_001128840.3(CACNA1D):c.2414T>C (p.Ile805Thr) rs147933585
NM_001128840.3(CACNA1D):c.3279G>A (p.Ala1093=) rs36061665
NM_001128840.3(CACNA1D):c.3701A>G (p.Asn1234Ser) rs147146258
NM_001128840.3(CACNA1D):c.5767_5769del (p.Phe1923del) rs72556363
NM_001128840.3(CACNA1D):c.5814G>T (p.Pro1938=) rs776968811
NM_001130987.2(DYSF):c.3239CGGAGG[3] (p.1080AE[3]) rs398123779
NM_001130987.2(DYSF):c.605C>A (p.Ala202Glu) rs34999029
NM_001134363.3(RBM20):c.125AGC[3] (p.Gln43dup) rs397516593
NM_001134363.3(RBM20):c.1880+4_1880+6dup rs397516597
NM_001134363.3(RBM20):c.1906C>A (p.Arg636Ser) rs267607002
NM_001134363.3(RBM20):c.2213C>T (p.Pro738Leu) rs397516601
NM_001134363.3(RBM20):c.2565_2570del (p.Gln856_Glu857del) rs397516603
NM_001134363.3(RBM20):c.3265C>A (p.Pro1089Thr) rs147356378
NM_001134831.2(AHI1):c.2988del (p.Val997fs) rs755246809
NM_001145809.2(MYH14):c.1625T>G (p.Leu542Arg) rs727504564
NM_001145809.2(MYH14):c.192G>T (p.Gly64=) rs181055215
NM_001145809.2(MYH14):c.5083G>C (p.Gly1695Arg) rs199915414
NM_001145809.2(MYH14):c.660G>T (p.Ser220=) rs201835322
NM_001164508.2(NEB):c.13105C>T (p.Leu4369=) rs147579763
NM_001164508.2(NEB):c.13276G>A (p.Asp4426Asn) rs876657540
NM_001164508.2(NEB):c.13368+11A>G rs112260335
NM_001164508.2(NEB):c.13476C>T (p.Asp4492=) rs876657541
NM_001164508.2(NEB):c.18997-10T>C rs4544436
NM_001190417.2(ZNF674):c.975_976del (p.His325_Ile326insTer) rs778073001
NM_001195248.2(APTX):c.484-25_484-5del rs200922655
NM_001195248.2(APTX):c.484-3del rs373304582
NM_001195263.2(PDZD7):c.1348_1350del (p.Glu450del) rs555444131
NM_001195263.2(PDZD7):c.2107del (p.Ser703fs) rs397516633
NM_001195263.2(PDZD7):c.2319TAGCCGCAGCCG[1] (p.773RS[4]) rs762000985
NM_001195263.2(PDZD7):c.2319_2336del (p.773_774RS[3]) rs397516634
NM_001195263.2(PDZD7):c.2331_2348del (p.773_774RS[3]) rs727503369
NM_001195263.2(PDZD7):c.2672AGA[1] (p.Lys892del) rs397516636
NM_001195263.2(PDZD7):c.490C>T (p.Arg164Trp) rs200664140
NM_001199799.2(ILDR1):c.661C>T (p.Arg221Cys) rs182963279
NM_001232.4(CASQ2):c.1132GAT[5] (p.Asp383del) rs72554069
NM_001232.4(CASQ2):c.1132GAT[7] (p.Asp383dup) rs72554069
NM_001232.4(CASQ2):c.1185_1187del (p.Asp398del) rs397516641
NM_001232.4(CASQ2):c.421-15C>G rs199939582
NM_001232.4(CASQ2):c.738-6_738-5del rs56889721
NM_001243133.2(NLRP3):c.224C>T (p.Ala75Val) rs200288250
NM_001244710.2(GFPT1):c.*22C>A rs199678034
NM_001256317.3(TMPRSS3):c.1149G>T (p.Met383Ile) rs727503492
NM_001256317.3(TMPRSS3):c.1180G>C (p.Asp394His) rs111033537
NM_001256317.3(TMPRSS3):c.497G>T (p.Arg166Leu) rs150397427
NM_001267550.2(TTN):c.100172-17dup rs397517782
NM_001267550.2(TTN):c.100397G>A (p.Arg33466His) rs189626540
NM_001267550.2(TTN):c.103514A>T (p.Glu34505Val) rs761105256
NM_001267550.2(TTN):c.11311+1079_11311+1080del rs58651353
NM_001267550.2(TTN):c.11311+1080del rs58651353
NM_001267550.2(TTN):c.12780G>T (p.Ala4260=) rs746578
NM_001267550.2(TTN):c.13194A>G (p.Gln4398=) rs375347596
NM_001267550.2(TTN):c.13265T>G (p.Ile4422Ser) rs727503656
NM_001267550.2(TTN):c.1398+4C>T rs368548209
NM_001267550.2(TTN):c.14784C>A (p.Leu4928=) rs373875040
NM_001267550.2(TTN):c.15178G>A (p.Val5060Ile) rs72648929
NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu) rs72648929
NM_001267550.2(TTN):c.16751T>A (p.Ile5584Asn) rs779652311
NM_001267550.2(TTN):c.177C>A (p.Ser59Arg) rs191057824
NM_001267550.2(TTN):c.18075C>T (p.Pro6025=) rs557350005
NM_001267550.2(TTN):c.21489C>G (p.Thr7163=) rs376882041
NM_001267550.2(TTN):c.2264C>T (p.Ser755Leu) rs533384820
NM_001267550.2(TTN):c.2283_2288del (p.Lys762_Ala763del) rs727503701
NM_001267550.2(TTN):c.23023G>T (p.Asp7675Tyr) rs552951988
NM_001267550.2(TTN):c.23538C>G (p.Phe7846Leu) rs149523263
NM_001267550.2(TTN):c.23538C>T (p.Phe7846=) rs149523263
NM_001267550.2(TTN):c.23853C>A (p.Ala7951=) rs201766927
NM_001267550.2(TTN):c.2396C>T (p.Thr799Met) rs149061352
NM_001267550.2(TTN):c.24156A>G (p.Thr8052=) rs749823104
NM_001267550.2(TTN):c.25087G>T (p.Ala8363Ser) rs200972189
NM_001267550.2(TTN):c.2607T>C (p.Thr869=) rs143969192
NM_001267550.2(TTN):c.26762-39TTTGT[10] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[11] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[7] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[8] rs71393436
NM_001267550.2(TTN):c.2761G>A (p.Gly921Arg) rs774924294
NM_001267550.2(TTN):c.29448AGA[2] (p.Glu9820del) rs377232641
NM_001267550.2(TTN):c.29938G>A (p.Ala9980Thr) rs189286381
NM_001267550.2(TTN):c.3002T>G (p.Met1001Arg) rs148269839
NM_001267550.2(TTN):c.30512-19dup rs397517532
NM_001267550.2(TTN):c.31762+5_31762+7del rs397517538
NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr) rs55914517
NM_001267550.2(TTN):c.32515G>T (p.Ala10839Ser) rs727503635
NM_001267550.2(TTN):c.32703G>A (p.Glu10901=) rs397517542
NM_001267550.2(TTN):c.32954G>A (p.Arg10985Gln) rs181395238
NM_001267550.2(TTN):c.33501AGA[6] (p.Glu11172dup) rs368327166
NM_001267550.2(TTN):c.34098GGAAGAGGAAGTTCTACCTGA[3] (p.11363VLPEEEE[5]) rs397517548
NM_001267550.2(TTN):c.34129GTTCTACCTGAAGAAGAGGAA[1] (p.11363VLPEEEE[3]) rs587780487
NM_001267550.2(TTN):c.34241AAG[2] (p.Glu11416del) rs397517549
NM_001267550.2(TTN):c.34453+14G>A rs397517550
NM_001267550.2(TTN):c.34708+9G>T rs397517551
NM_001267550.2(TTN):c.39212-9C>A rs373056460
NM_001267550.2(TTN):c.39704C>G (p.Pro13235Arg) rs72650066
NM_001267550.2(TTN):c.39731TTGCTCCTGAAGAGGAAA[1] (p.13244IAPEEE[1]) rs139512154
NM_001267550.2(TTN):c.40408+8del rs727504922
NM_001267550.2(TTN):c.40634-15_40634-11del rs375561641
NM_001267550.2(TTN):c.40723+1del rs876658058
NM_001267550.2(TTN):c.43138T>C (p.Cys14380Arg) rs557125278
NM_001267550.2(TTN):c.4322G>C (p.Arg1441Pro) rs72647876
NM_001267550.2(TTN):c.43481-16dup rs730880350
NM_001267550.2(TTN):c.45053C>T (p.Ala15018Val) rs72677221
NM_001267550.2(TTN):c.45120T>G (p.Ile15040Met) rs74580375
NM_001267550.2(TTN):c.46065G>C (p.Lys15355Asn) rs397517583
NM_001267550.2(TTN):c.46823T>C (p.Leu15608Ser) rs397517588
NM_001267550.2(TTN):c.48638+5G>T rs397517594
NM_001267550.2(TTN):c.51991G>C (p.Glu17331Gln) rs547986881
NM_001267550.2(TTN):c.56910C>T (p.Gly18970=) rs148299739
NM_001267550.2(TTN):c.57478G>A (p.Val19160Ile) rs200778464
NM_001267550.2(TTN):c.587AAG[2] (p.Glu198del) rs771898264
NM_001267550.2(TTN):c.5993G>A (p.Arg1998His) rs144135510
NM_001267550.2(TTN):c.60490G>C (p.Val20164Leu) rs72646843
NM_001267550.2(TTN):c.62931AGA[1] (p.Glu20979del) rs727505236
NM_001267550.2(TTN):c.63329C>T (p.Ala21110Val) rs370687831
NM_001267550.2(TTN):c.65187G>A (p.Glu21729=) rs397517660
NM_001267550.2(TTN):c.65194T>C (p.Phe21732Leu) rs397517661
NM_001267550.2(TTN):c.68417C>T (p.Thr22806Ile) rs727503573
NM_001267550.2(TTN):c.68762C>T (p.Thr22921Ile) rs534567766
NM_001267550.2(TTN):c.69903C>A (p.Phe23301Leu) rs372799151
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) rs397517689
NM_001267550.2(TTN):c.72033A>G (p.Pro24011=) rs72646894
NM_001267550.2(TTN):c.74597CAA[1] (p.Thr24867del) rs543318580
NM_001267550.2(TTN):c.7642C>T (p.Gln2548Ter) rs727503688
NM_001267550.2(TTN):c.76739C>A (p.Thr25580Lys) rs56372592
NM_001267550.2(TTN):c.76739C>T (p.Thr25580Met) rs56372592
NM_001267550.2(TTN):c.82385C>A (p.Thr27462Lys) rs55933739
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile) rs371788070
NM_001267550.2(TTN):c.85040T>C (p.Ile28347Thr) rs397517731
NM_001267550.2(TTN):c.86683G>A (p.Val28895Met) rs201290358
NM_001267550.2(TTN):c.86729AAG[1] (p.Glu28911del) rs727504797
NM_001267550.2(TTN):c.90968G>A (p.Arg30323Lys) rs11887722
NM_001267550.2(TTN):c.91071T>G (p.Thr30357=) rs11897366
NM_001267550.2(TTN):c.915-7dup rs730880351
NM_001267550.2(TTN):c.91557T>C (p.Asp30519=) rs202185465
NM_001267550.2(TTN):c.9290T>C (p.Leu3097Pro) rs373366126
NM_001267550.2(TTN):c.94524T>C (p.Asp31508=) rs727505200
NM_001267550.2(TTN):c.96180T>C (p.Ile32060=) rs572401798
NM_001267550.2(TTN):c.96235G>A (p.Asp32079Asn) rs200540781
NM_001267550.2(TTN):c.97760G>A (p.Arg32587His) rs55704830
NM_001267550.2(TTN):c.97760G>C (p.Arg32587Pro) rs55704830
NM_001267550.2(TTN):c.98721C>A (p.Leu32907=) rs375361462
NM_001267550.2(TTN):c.98721C>T (p.Leu32907=) rs375361462
NM_001267550.2(TTN):c.98959_98960delinsCT (p.Ser32987Leu) rs727504588
NM_001267550.2(TTN):c.99830G>A (p.Gly33277Glu) rs397517781
NM_001276345.2(TNNT2):c.268C>T (p.Pro90Ser) rs397516451
NM_001276345.2(TNNT2):c.270C>G (p.Pro90=) rs140245123
NM_001276345.2(TNNT2):c.270C>T (p.Pro90=) rs140245123
NM_001276345.2(TNNT2):c.412-6_412-4del rs397516462
NM_001276345.2(TNNT2):c.445C>T (p.Arg149Cys) rs397516465
NM_001276345.2(TNNT2):c.446G>A (p.Arg149His) rs397516466
NM_001276345.2(TNNT2):c.53-11_53-7del rs45533739
NM_001276345.2(TNNT2):c.644G>A (p.Arg215Gln) rs121964860
NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del) rs45578238
NM_001276345.2(TNNT2):c.719+13A>C rs563883763
NM_001276345.2(TNNT2):c.764C>T (p.Ala255Val) rs369181536
NM_001276345.2(TNNT2):c.863G>C (p.Arg288Pro) rs397516484
NM_001277115.2(DNAH11):c.6437G>A (p.Arg2146His) rs727505321
NM_001277269.2(OTOG):c.7517-5_7518dup rs1295062471
NM_001286445.3(RIPOR2):c.368C>A (p.Thr123Lys) rs145166802
NM_001289808.2(CRYAB):c.510C>T (p.Thr170=) rs147970333
NM_001292063.2(OTOG):c.1042G>A (p.Ala348Thr) rs191354103
NM_001292063.2(OTOG):c.1353C>A (p.Phe451Leu) rs189947237
NM_001292063.2(OTOG):c.2453_2454insACTGGACACCCA (p.Tyr818Ter) rs876657656
NM_001292063.2(OTOG):c.2723G>T (p.Arg908Leu) rs144060182
NM_001292063.2(OTOG):c.499del (p.Val167fs) rs876657657
NM_001292063.2(OTOG):c.5926dup (p.Gln1976fs) rs34547529
NM_001292063.2(OTOG):c.6179G>T (p.Arg2060Leu) rs188527711
NM_001292063.2(OTOG):c.6667G>A (p.Val2223Met) rs572886375
NM_001292063.2(OTOG):c.7353dup (p.Ala2452fs) rs1157646266
NM_001292063.2(OTOG):c.8036G>A (p.Arg2679His) rs766229978
NM_001308093.3(GATA4):c.702G>A (p.Thr234=) rs55788387
NM_001354604.2(MITF):c.1072G>A (p.Val358Met) rs1271000541
NM_001354604.2(MITF):c.1150G>A (p.Ala384Thr) rs202020443
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001363118.2(SLC52A2):c.353C>A (p.Ala118Asp) rs117500243
NM_001365536.1(SCN9A):c.1828C>A (p.Pro610Thr) rs41268673
NM_001368067.1(LDB3):c.456G>T (p.Ala152=) rs371708921
NM_001369.3(DNAH5):c.12033+7A>G rs77541151
NM_001369.3(DNAH5):c.13194_13197del (p.Asp4398fs) rs727502971
NM_001369.3(DNAH5):c.2578-10_2578-7del rs71600031
NM_001369.3(DNAH5):c.2578-9_2578-7del rs71600031
NM_001369.3(DNAH5):c.3037_3040del (p.Val1014fs) rs1580731750
NM_001369.3(DNAH5):c.9449del (p.Gly3150fs) rs727504802
NM_001372051.1(CASP8):c.853G>C (p.Asp285His) rs1045485
NM_001374258.1(BRAF):c.1529C>G (p.Thr510Arg) rs397516891
NM_001376256.1(CRYM):c.523_524delinsTT (p.Glu175Leu) rs386789728
NM_001378454.1(ALMS1):c.2038C>G (p.Arg680Gly) rs115444326
NM_001378454.1(ALMS1):c.2416G>C (p.Val806Leu) rs138921247
NM_001378454.1(ALMS1):c.75_80del (p.Glu27_Glu28del) rs754175473
NM_001378454.1(ALMS1):c.8837A>G (p.His2946Arg) rs574785830
NM_001378609.3(OTOGL):c.1350A>G (p.Leu450=) rs557104053
NM_001378609.3(OTOGL):c.335-9del rs754987281
NM_001378609.3(OTOGL):c.6055C>A (p.His2019Asn) rs201869161
NM_001378609.3(OTOGL):c.841_842del (p.Met281fs) rs876657658
NM_001384140.1(PCDH15):c.1195A>G (p.Ser399Gly) rs199786639
NM_001384140.1(PCDH15):c.1998-2A>G rs397517452
NM_001384140.1(PCDH15):c.2885G>A (p.Arg962His) rs45483395
NM_001384140.1(PCDH15):c.2885G>T (p.Arg962Leu) rs45483395
NM_001384140.1(PCDH15):c.4308GCC[7] (p.Pro1442_Pro1443dup) rs559130985
NM_001384140.1(PCDH15):c.4651GAA[1] (p.Glu1552del) rs561144747
NM_001384140.1(PCDH15):c.4671+1345G>C rs531574437
NM_001384474.1(LOXHD1):c.1537_1538del (p.Leu513fs) rs1555683951
NM_001384474.1(LOXHD1):c.1810-6C>A rs199804946
NM_001384474.1(LOXHD1):c.1810-6C>G rs199804946
NM_001384474.1(LOXHD1):c.2696G>C (p.Arg899Pro) rs745683775
NM_001384474.1(LOXHD1):c.2874_2891dup (p.Ser960_Ser965dup) rs759237437
NM_001384474.1(LOXHD1):c.2916AGAGGAGGA[1] (p.Glu976_Glu978del) rs765944082
NM_001384474.1(LOXHD1):c.3619+9G>A rs576031049
NM_001384474.1(LOXHD1):c.4714C>T (p.Arg1572Ter) rs75949023
NM_001384474.1(LOXHD1):c.5113_5125dup (p.Val1709fs) rs876657855
NM_001384474.1(LOXHD1):c.710A>G (p.Asn237Ser) rs539278802
NM_001386795.1(DTNA):c.1744-10G>A rs192561043
NM_001386795.1(DTNA):c.1744-10G>T rs192561043
NM_001386795.1(DTNA):c.1766G>A (p.Arg589His) rs200246467
NM_001399.5(EDA):c.1067C>T (p.Ala356Val) rs876657639
NM_001399.5(EDA):c.794A>G (p.Asp265Gly) rs727504750
NM_001399.5(EDA):c.895G>A (p.Gly299Ser) rs397516679
NM_001429.4(EP300):c.2997+1G>A rs1169505007
NM_001458.5(FLNC):c.577G>A (p.Ala193Thr) rs387906587
NM_001613.4(ACTA2):c.353G>A (p.Arg118Gln) rs112602953
NM_001613.4(ACTA2):c.720G>C (p.Lys240Asn) rs727502878
NM_001614.5(ACTG1):c.1036C>G (p.Leu346Val) rs782217473
NM_001614.5(ACTG1):c.315G>A (p.Leu105=) rs202094234
NM_001614.5(ACTG1):c.414C>T (p.Ala138=) rs143978597
NM_001614.5(ACTG1):c.558C>T (p.Thr186=) rs142893042
NM_001614.5(ACTG1):c.985-5dup rs782289893
NM_001625.4(AK2):c.307C>T (p.Arg103Trp) rs267606648
NM_001692.4(ATP6V1B1):c.370C>T (p.Arg124Trp) rs727505222
NM_001692.4(ATP6V1B1):c.815C>T (p.Ala272Val) rs145735762
NM_001854.4(COL11A1):c.1792-39ATG[9] rs71752747
NM_001927.4(DES):c.114G>A (p.Ala38=) rs368901105
NM_001927.4(DES):c.1216C>T (p.Arg406Trp) rs121913003
NM_001927.4(DES):c.1353C>T (p.Ile451=) rs121913002
NM_001927.4(DES):c.1372-3dup rs876657769
NM_001927.4(DES):c.1404A>G (p.Glu468=) rs397516691
NM_001927.4(DES):c.347A>G (p.Asn116Ser) rs267607499
NM_001927.4(DES):c.380G>C (p.Arg127Pro) rs397516694
NM_001927.4(DES):c.404C>T (p.Ala135Val) rs546741834
NM_001927.4(DES):c.735+1G>A rs397516698
NM_001927.4(DES):c.897+4_897+5del rs397516699
NM_001943.5(DSG2):c.1109dup (p.Thr371fs) rs1555627118
NM_001943.5(DSG2):c.1280+4AG[3] rs876657791
NM_001943.5(DSG2):c.1319_1320del (p.Val440fs) rs775256998
NM_001943.5(DSG2):c.1487dup (p.Cys496fs) rs730880347
NM_001943.5(DSG2):c.2434G>T (p.Gly812Cys) rs121913010
NM_001943.5(DSG2):c.3175T>A (p.Ser1059Thr) rs201786158
NM_001943.5(DSG2):c.3281_3283delinsTTA (p.Gly1094_His1095delinsValAsn) rs386802145
NM_001943.5(DSG2):c.618T>A (p.Ala206=) rs397516710
NM_001943.5(DSG2):c.829-4G>A rs376424003
NM_001953.5(TYMP):c.1340_1361del (p.Leu447fs) rs772501604
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile) rs147157552
NM_001999.4(FBN2):c.6948C>A (p.Ile2316=) rs17608368
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002016.2(FLG):c.2938C>G (p.His980Asp) rs12756586
NM_002230.4(JUP):c.909+6C>T rs193922705
NM_002249.6(KCNN3):c.200AGC[17] (p.Gln78_Gln80dup) rs3831942
NM_002249.6(KCNN3):c.200AGC[20] (p.Gln75_Gln80dup) rs3831942
NM_002294.3(LAMP2):c.-32GTCGCCGCC[1] rs193922648
NM_002294.3(LAMP2):c.-4G>C rs200297370
NM_002471.4(MYH6):c.1131C>G (p.Asp377Glu) rs61742472
NM_002471.4(MYH6):c.1131C>T (p.Asp377=) rs61742472
NM_002471.4(MYH6):c.2806G>T (p.Ala936Ser) rs141704264
NM_002471.4(MYH6):c.3447C>G (p.Ser1149Arg) rs564367705
NM_002471.4(MYH6):c.3609C>G (p.Ala1203=) rs149369904
NM_002471.4(MYH6):c.3979-7_3979-5del rs397516764
NM_002471.4(MYH6):c.3979-7_3979-6del rs796313537
NM_002471.4(MYH6):c.3979-8_3979-7delinsGC rs727503235
NM_002471.4(MYH6):c.3979-9_3979-7delinsGC rs796876119
NM_002471.4(MYH6):c.4026C>T (p.Cys1342=) rs141062252
NM_002471.4(MYH6):c.427C>A (p.Arg143=) rs2277473
NM_002471.4(MYH6):c.4360-7C>T rs58949384
NM_002471.4(MYH6):c.4595G>T (p.Arg1532Leu) rs34330111
NM_002471.4(MYH6):c.70C>A (p.Leu24Ile) rs573489857
NM_002473.6(MYH9):c.19G>T (p.Asp7Tyr) rs762745890
NM_002473.6(MYH9):c.4179C>G (p.Asp1393Glu) rs727504829
NM_002473.6(MYH9):c.5107C>T (p.Arg1703Trp) rs569541375
NM_002473.6(MYH9):c.5275-10del rs552643559
NM_002473.6(MYH9):c.5483+4C>T rs56327920
NM_002473.6(MYH9):c.5593-14G>T rs201676960
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002667.5(PLN):c.37AGA[1] (p.Arg14del) rs397516784
NM_002691.4(POLD1):c.632G>A (p.Arg211His) rs373192520
NM_002700.3(POU4F3):c.948C>G (p.Asn316Lys) rs149303333
NM_002755.4(MAP2K1):c.1068+12_1068+15del rs397516788
NM_002755.4(MAP2K1):c.371C>T (p.Pro124Leu) rs397516792
NM_002755.4(MAP2K1):c.388T>C (p.Tyr130His) rs397516793
NM_002755.4(MAP2K1):c.694-12TC[4] rs113913469
NM_002772.3(TMPRSS15):c.2042dup (p.Asn682fs) rs1284864421
NM_002834.5(PTPN11):c.1382C>G (p.Ala461Gly) rs397509344
NM_002834.5(PTPN11):c.1448-5C>T rs554790621
NM_002834.5(PTPN11):c.155C>T (p.Thr52Ile) rs397507503
NM_002834.5(PTPN11):c.209A>G (p.Lys70Arg) rs397516801
NM_002834.5(PTPN11):c.328G>A (p.Glu110Lys) rs397507518
NM_002880.3(RAF1):c.1804-11_1804-7dup rs727503382
NM_002880.4(RAF1):c.-204G>C rs547543588
NM_002880.4(RAF1):c.-267G>A rs116247741
NM_002880.4(RAF1):c.1108+9_1108+21del rs727504451
NM_002880.4(RAF1):c.124_125delinsAT (p.Ala42Ile) rs876657965
NM_002880.4(RAF1):c.1472C>T (p.Thr491Ile) rs80338799
NM_002880.4(RAF1):c.1668+10_1668+11del rs730880997
NM_002880.4(RAF1):c.388T>A (p.Phe130Ile) rs397516821
NM_002880.4(RAF1):c.524A>G (p.His175Arg) rs397516822
NM_002880.4(RAF1):c.766A>G (p.Arg256Gly) rs397516825
NM_002880.4(RAF1):c.775T>A (p.Ser259Thr) rs3730271
NM_002880.4(RAF1):c.775T>G (p.Ser259Ala) rs3730271
NM_002880.4(RAF1):c.776C>A (p.Ser259Tyr) rs397516827
NM_002880.4(RAF1):c.781C>G (p.Pro261Ala) rs121434594
NM_002880.4(RAF1):c.781C>T (p.Pro261Ser) rs121434594
NM_002880.4(RAF1):c.782C>T (p.Pro261Leu) rs397516828
NM_002880.4(RAF1):c.788T>G (p.Val263Gly) rs397516830
NM_002880.4(RAF1):c.834+8G>A rs727504615
NM_002906.4(RDX):c.1410C>A (p.Pro470=) rs577555846
NM_002906.4(RDX):c.97-19TGT[3] rs532650829
NM_003000.2(SDHB):c.424-16_424-14dup rs34261028
NM_003000.3(SDHB):c.287-1G>C rs397516833
NM_003019.5(SFTPD):c.199+9G>A rs6413522
NM_003068.5(SNAI2):c.606A>G (p.Gly202=) rs370952195
NM_003193.5(TBCE):c.100+13TG[17] rs10524346
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_003242.6(TGFBR2):c.1159G>T (p.Val387Leu) rs35766612
NM_003242.6(TGFBR2):c.1580C>T (p.Ala527Val) rs727503476
NM_003242.6(TGFBR2):c.464C>T (p.Thr155Ile) rs727504406
NM_003265.3(TLR3):c.1234C>T (p.Leu412Phe) rs3775291
NM_003319.4(TTN):c.13282+23498dup rs727503644
NM_003319.4(TTN):c.20966-11dup rs730880371
NM_003401.5(XRCC4):c.25del (p.His9fs) rs869320677
NM_003476.5(CSRP3):c.334G>C (p.Ala112Pro) rs727504905
NM_003476.5(CSRP3):c.509-3_509-2del rs397516858
NM_003661.4(APOL1):c.1164_1169del (p.Asn388_Tyr389del) rs71785313
NM_003664.5(AP3B1):c.2409_2411del (p.Lys804del) rs199702315
NM_003672.4(CDC14A):c.28G>C (p.Gly10Arg) rs571098288
NM_003673.4(TCAP):c.34GAG[1] (p.Glu13del) rs397516862
NM_003673.4(TCAP):c.472C>A (p.Arg158Ser) rs397516863
NM_003742.4(ABCB11):c.1435-13_1435-8del rs748716950
NM_003803.4(MYOM1):c.924C>A (p.Val308=) rs536739408
NM_003865.3(HESX1):c.511_512del (p.Gln171fs) rs752434998
NM_003924.4(PHOX2B):c.741_755del (p.Ala256_Ala260del) rs775006915
NM_003924.4(PHOX2B):c.741_758del (p.Ala255_Ala260del) rs771383153
NM_004004.5(GJB2):c.[79G>A;341A>G]
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004004.6(GJB2):c.380G>T (p.Arg127Leu) rs111033196
NM_004004.6(GJB2):c.389G>C (p.Gly130Ala) rs779018464
NM_004004.6(GJB2):c.456C>A (p.Tyr152Ter) rs111033420
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr) rs80338941
NM_004004.6(GJB2):c.647_650del (p.Arg216fs) rs587783647
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter) rs111033401
NM_004006.3(DMD):c.*23_*35del rs752332058
NM_004006.3(DMD):c.2569C>T (p.Pro857Ser) rs552275776
NM_004006.3(DMD):c.2827C>A (p.Arg943Ser) rs199986217
NM_004006.3(DMD):c.7653G>A (p.Thr2551=) rs368803197
NM_004086.3(COCH):c.239+80del rs111033189
NM_004100.5(EYA4):c.580+14_580+16del rs139659489
NM_004281.4(BAG3):c.212G>A (p.Arg71Gln) rs35434411
NM_004281.4(BAG3):c.468GGC[4] (p.Ala160dup) rs139438727
NM_004316.4(ASCL1):c.151CAG[14] (p.Gln62_Ala63insGlnGln) rs3832799
NM_004316.4(ASCL1):c.151CAG[16] (p.Gln62_Ala63insGlnGlnGlnGln) rs3832799
NM_004316.4(ASCL1):c.151CAG[17] (p.Gln62_Ala63insGlnGlnGlnGlnGln) rs3832799
NM_004333.6(BRAF):c.111G>A (p.Ser37=) rs727502906
NM_004333.6(BRAF):c.1397G>T (p.Gly466Val) rs121913351
NM_004333.6(BRAF):c.1785T>G (p.Phe595Leu) rs121913341
NM_004333.6(BRAF):c.2128-5del rs373442098
NM_004333.6(BRAF):c.735A>C (p.Leu245Phe) rs397507466
NM_004333.6(BRAF):c.739T>G (p.Phe247Val) rs397516903
NM_004333.6(BRAF):c.793G>C (p.Gly265Arg) rs397516905
NM_004333.6(BRAF):c.83GCGCCG[2] (p.28GA[2]) rs397507458
NM_004403.3(GSDME):c.119dup (p.Lys41fs) rs758488919
NM_004415.4(DSP):c.1266+6G>T rs73375345
NM_004415.4(DSP):c.12C>G (p.Asn4Lys) rs368802003
NM_004415.4(DSP):c.157T>G (p.Ser53Ala) rs397516918
NM_004415.4(DSP):c.2437-11del rs727502998
NM_004415.4(DSP):c.2794-7T>C rs397516926
NM_004415.4(DSP):c.3956C>G (p.Thr1319Ser) rs138599871
NM_004415.4(DSP):c.8111AGA[2] (p.Lys2706del) rs397516962
NM_004415.4(DSP):c.8496ATCTCGCTCCGG[1] (p.2827SGSR[4]) rs397516971
NM_004415.4(DSP):c.868G>A (p.Glu290Lys) rs397516974
NM_004415.4(DSP):c.939+13dup rs730880360
NM_004447.6(EPS8):c.2226-3del rs35885542
NM_004484.4(GPC3):c.338-5del rs370737647
NM_004531.5(MOCS2):c.539_540del (p.Lys180fs) rs398122797
NM_004562.3(PRKN):c.245C>A (p.Ala82Glu) rs55774500
NM_004577.4(PSPH):c.275+1del rs139106189
NM_004612.4(TGFBR1):c.1387-4G>A rs397517031
NM_004700.4(KCNQ4):c.1042-11dup rs876657480
NM_004700.4(KCNQ4):c.803CCT[1] (p.Ser269del) rs797044966
NM_004817.4(TJP2):c.1213_1215del (p.Ile405del) rs727504461
NM_004817.4(TJP2):c.1444del (p.Asp482fs) rs727503479
NM_004817.4(TJP2):c.1521-7A>C rs373242928
NM_004817.4(TJP2):c.2819C>T (p.Pro940Leu) rs199852211
NM_004937.3(CTNS):c.870C>G (p.Tyr290Ter) rs776842972
NM_004949.5(DSC2):c.1234dup (p.Thr412fs) rs397517390
NM_004985.5(KRAS):c.35G>T (p.Gly12Val) rs121913529
NM_004985.5(KRAS):c.528GAA[1] (p.Lys180del) rs397517043
NM_004993.6(ATXN3):c.916_917insC (p.Gly306fs) rs763461489
NM_004999.4(MYO6):c.1546+7_1546+8del rs3831003
NM_004999.4(MYO6):c.2898AGA[3] (p.Glu970del) rs727504743
NM_004999.4(MYO6):c.3610C>T (p.Arg1204Trp) rs876657911
NM_004999.4(MYO6):c.737A>G (p.His246Arg) rs121912560
NM_005159.5(ACTC1):c.310C>T (p.Pro104Ser) rs397517059
NM_005159.5(ACTC1):c.383C>T (p.Thr128Ile) rs727504308
NM_005188.4(CBL):c.107ACC[8] (p.His42dup) rs373212940
NM_005188.4(CBL):c.1228-10dup rs397517078
NM_005188.4(CBL):c.1228-2A>G rs727504426
NM_005188.4(CBL):c.1365TGA[7] (p.Asp460dup) rs397507494
NM_005219.5(DIAPH1):c.1523A>G (p.Asp508Gly) rs373413837
NM_005219.5(DIAPH1):c.1769G>T (p.Gly590Val) rs189809247
NM_005219.5(DIAPH1):c.1821TCC[12] (p.Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[13] (p.Pro619_Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[9] (p.Pro619_Pro620del) rs3075570
NM_005219.5(DIAPH1):c.402+12del rs555848272
NM_005228.5(EGFR):c.2155G>A (p.Gly719Ser) rs28929495
NM_005228.5(EGFR):c.2235_2249del (p.Glu746_Ala750del) rs121913421
NM_005228.5(EGFR):c.2236_2250del (p.Glu746_Ala750del) rs727504233
NM_005228.5(EGFR):c.2303G>T (p.Ser768Ile) rs121913465
NM_005263.5(GFI1):c.925-40CT[19] rs35896485
NM_005343.4(HRAS):c.175G>A (p.Ala59Thr) rs727503093
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005343.4(HRAS):c.437C>T (p.Ala146Val) rs121917759
NM_005379.4(MYO1A):c.2238C>G (p.Ser746=) rs140932379
NM_005379.4(MYO1A):c.277C>T (p.Arg93Ter) rs121909305
NM_005379.4(MYO1A):c.2920G>A (p.Glu974Lys) rs370708976
NM_005379.4(MYO1A):c.3128A>G (p.Gln1043Arg) rs370617353
NM_005422.4(TECTA):c.4004G>A (p.Gly1335Glu) rs148619105
NM_005422.4(TECTA):c.5692T>C (p.Cys1898Arg) rs1591464207
NM_005422.4(TECTA):c.90A>T (p.Pro30=) rs577470721
NM_005577.4(LPA):c.4289+1G>A rs41272114
NM_005633.3(SOS1):c.2511-9dup rs727503436
NM_005633.4(SOS1):c.322G>A (p.Glu108Lys) rs397517164
NM_005633.4(SOS1):c.3709C>A (p.Pro1237Thr) rs371408734
NM_005902.4(SMAD3):c.803G>A (p.Arg268His) rs863223740
NM_005982.4(SIX1):c.746C>A (p.Pro249Gln) rs368974927
NM_006005.3(WFS1):c.1134C>A (p.Thr378=) rs71530904
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val) rs35031397
NM_006005.3(WFS1):c.1294C>T (p.Leu432=) rs35031397
NM_006005.3(WFS1):c.1725C>T (p.Ala575=) rs2230719
NM_006005.3(WFS1):c.1797C>A (p.Val599=) rs71524361
NM_006005.3(WFS1):c.1922C>A (p.Thr641Lys) rs376626985
NM_006005.3(WFS1):c.2146G>A (p.Ala716Thr) rs28937893
NM_006005.3(WFS1):c.2158A>G (p.Ile720Val) rs1805070
NM_006005.3(WFS1):c.2369C>T (p.Ser790Leu) rs369107336
NM_006005.3(WFS1):c.2370G>A (p.Ser790=) rs150936382
NM_006005.3(WFS1):c.2370G>C (p.Ser790=) rs150936382
NM_006005.3(WFS1):c.2387ACG[3] (p.Asp797dup) rs397517197
NM_006005.3(WFS1):c.2389G>A (p.Asp797Asn) rs1553879004
NM_006005.3(WFS1):c.2406C>G (p.Ile802Met) rs201102144
NM_006005.3(WFS1):c.2580C>T (p.His860=) rs754802246
NM_006005.3(WFS1):c.350C>T (p.Thr117Met) rs141225426
NM_006005.3(WFS1):c.654C>T (p.Pro218=) rs727504666
NM_006005.3(WFS1):c.831G>A (p.Lys277=) rs532368033
NM_006073.4(TRDN):c.1313T>A (p.Ile438Asn) rs2873479
NM_006073.4(TRDN):c.1369+3dup rs537388823
NM_006073.4(TRDN):c.1598-6dup rs147062785
NM_006073.4(TRDN):c.497AAAAAG[1] (p.166EK[1]) rs148596612
NM_006073.4(TRDN):c.931+18del rs201431159
NM_006208.3(ENPP1):c.2101-11del rs397832689
NM_006218.4(PIK3CA):c.1252G>A (p.Glu418Lys) rs397517199
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) rs121913272
NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) rs397517201
NM_006231.4(POLE):c.1A>T (p.Met1Leu) rs878854847
NM_006231.4(POLE):c.2090C>G (p.Pro697Arg) rs36120395
NM_006231.4(POLE):c.3670_3671delinsTT (p.Ala1224Leu) rs864622698
NM_006231.4(POLE):c.5552+1G>A rs1555221894
NM_006231.4(POLE):c.6623del (p.Gln2208fs) rs1555301070
NM_006343.3(MERTK):c.2435A>C (p.Tyr812Ser) rs141361084
NM_006393.3(NEBL):c.1775C>A (p.Ala592Glu) rs146275785
NM_006912.6(RIT1):c.67A>C (p.Lys23Gln) rs869312687
NM_007078.3(LDB3):c.*13G>T rs397517207
NM_007078.3(LDB3):c.1296CCCTGCCCCTGCCTACACCCCCTC[1] (p.434APAYTPSP[1]) rs397517209
NM_007078.3(LDB3):c.1296CCCTGCCCCTGCCTACACCCCCTC[3] (p.434APAYTPSP[3]) rs397517209
NM_007078.3(LDB3):c.1609del (p.Gln537fs) rs727503129
NM_007078.3(LDB3):c.465C>T (p.Leu155=) rs45516997
NM_007078.3(LDB3):c.576G>A (p.Pro192=) rs45543741
NM_007078.3(LDB3):c.860-15C>T rs727503126
NM_007078.3(LDB3):c.896+6669TC[11] rs71019410
NM_007078.3(LDB3):c.896+6669TC[12] rs71019410
NM_007294.4(BRCA1):c.2612C>T (p.Pro871Leu) rs799917
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly) rs1799966
NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly) rs80356862
NM_007294.4(BRCA1):c.5066T>G (p.Met1689Arg) rs80357061
NM_007294.4(BRCA1):c.5075-1G>A rs1800747
NM_007294.4(BRCA1):c.5117G>A (p.Gly1706Glu) rs80356860
NM_012208.4(HARS2):c.1439G>T (p.Arg480Leu) rs200089613
NM_012330.4(KAT6B):c.3240GGAAGAAGAGGA[1] (p.Glu1086_Glu1089del) rs201769534
NM_012330.4(KAT6B):c.3289GAA[7] (p.Glu1104del) rs71929101
NM_013275.6(ANKRD11):c.2409_2412del (p.Glu805fs) rs886039902
NM_013296.5(GPSM2):c.1569TTC[1] (p.Ser525del) rs35029887
NM_013296.5(GPSM2):c.515AAG[1] (p.Glu173del) rs145997327
NM_013296.5(GPSM2):c.742del (p.Gly249fs) rs528069912
NM_014000.3(VCL):c.1157A>G (p.Lys386Arg) rs200342284
NM_014000.3(VCL):c.120C>T (p.Leu40=) rs144080529
NM_014000.3(VCL):c.1575A>C (p.Glu525Asp) rs548487697
NM_014000.3(VCL):c.168+9G>T rs997516030
NM_014000.3(VCL):c.1973T>C (p.Val658Ala) rs372691803
NM_014000.3(VCL):c.2862_2864del (p.Leu955del) rs397517237
NM_014000.3(VCL):c.622+4C>G rs201020802
NM_014000.3(VCL):c.622+4C>T rs201020802
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys) rs1555582065
NM_014362.4(HIBCH):c.852del (p.Leu284fs) rs1131692017
NM_014391.3(ANKRD1):c.154C>T (p.Pro52Ser) rs397517248
NM_014391.3(ANKRD1):c.196C>G (p.Arg66Gly) rs397517249
NM_014391.3(ANKRD1):c.346-17_346-10del rs397517250
NM_014391.3(ANKRD1):c.346-29_346-12del rs72003210
NM_014588.6(VSX1):c.479G>A (p.Gly160Asp) rs74315433
NM_014739.3(BCLAF1):c.2272C>A (p.Pro758Thr) rs77081633
NM_015340.4(LARS2):c.945G>A (p.Ser315=) rs145135580
NM_015340.4(LARS2):c.945G>C (p.Ser315=) rs145135580
NM_015404.4(WHRN):c.1126G>T (p.Ala376Ser) rs545251395
NM_015404.4(WHRN):c.2333G>A (p.Arg778Gln) rs727505188
NM_015404.4(WHRN):c.2644C>T (p.Arg882Cys) rs150586098
NM_015665.6(AAAS):c.1144_1147del (p.Ser382fs) rs770214071
NM_015697.9(COQ2):c.64A>T (p.Arg22Ter) rs112033303
NM_016111.4(TELO2):c.2291+1G>A rs76038845
NM_016203.4(PRKAG2):c.471C>T (p.Ser157=) rs141804012
NM_016203.4(PRKAG2):c.912G>A (p.Ala304=) rs145029525
NM_016239.4(MYO15A):c.3006del (p.Lys1003fs) rs1162296750
NM_016239.4(MYO15A):c.3122C>A (p.Pro1041His) rs200587502
NM_016239.4(MYO15A):c.3130_3147dup (p.Ile1044_Asp1049dup) rs377177611
NM_016239.4(MYO15A):c.3658G>A (p.Gly1220Arg) rs146754758
NM_016239.4(MYO15A):c.3658G>C (p.Gly1220Arg) rs146754758
NM_016239.4(MYO15A):c.4656-11del rs767773802
NM_016239.4(MYO15A):c.7961C>G (p.Thr2654Ser) rs200355614
NM_016239.4(MYO15A):c.8602-8_8602-5del rs876657907
NM_016239.4(MYO15A):c.9303+1G>T rs876657708
NM_016599.5(MYOZ2):c.17C>G (p.Thr6Ser) rs397517289
NM_016599.5(MYOZ2):c.688C>T (p.Arg230Trp) rs372215131
NM_017433.5(MYO3A):c.1029A>G (p.Leu343=) rs544012938
NM_017433.5(MYO3A):c.1053+11_1053+12inv
NM_017433.5(MYO3A):c.1643C>A (p.Pro548His) rs143918373
NM_017433.5(MYO3A):c.2625G>C (p.Leu875=) rs371741845
NM_017433.5(MYO3A):c.3585G>T (p.Val1195=) rs372169216
NM_017433.5(MYO3A):c.4567C>G (p.Arg1523Gly) rs727504688
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup) rs377139749
NM_017780.4(CHD7):c.3248C>T (p.Thr1083Ile) rs1804154342
NM_017841.4(SDHAF2):c.355dup (p.Tyr119fs) rs1456129845
NM_018389.5(SLC35C1):c.503_505del (p.Phe168del) rs587777655
NM_019026.6(TMCO1):c.139_140del (p.Gln46_Ser47insTer) rs752176040
NM_020223.4(FAM20C):c.953_956+30dup rs771282640
NM_020297.4(ABCC9):c.1165-6dup rs35857705
NM_020297.4(ABCC9):c.2644-11G>A rs61926078
NM_020297.4(ABCC9):c.2644-11G>C rs61926078
NM_020297.4(ABCC9):c.4450-5dup rs4148680
NM_020297.4(ABCC9):c.817-7del rs193922684
NM_020433.5(JPH2):c.624C>G (p.Ala208=) rs398124358
NM_020975.6(RET):c.1858T>C (p.Cys620Arg) rs77316810
NM_021147.5(CCNO):c.258_262dup (p.Gln88fs) rs587777499
NM_021167.5(GATAD1):c.166GGC[5] (p.Gly59dup) rs876657812
NM_022081.6(HPS4):c.1132C>T (p.Gln378Ter) rs369053765
NM_022114.4(PRDM16):c.-14C>A rs180925565
NM_022114.4(PRDM16):c.2448C>T (p.Asn816=) rs372189819
NM_022114.4(PRDM16):c.2468G>C (p.Arg823Pro) rs371654192
NM_022114.4(PRDM16):c.3366CGA[3] (p.Asp1125dup) rs758774731
NM_022124.6(CDH23):c.-45AGGCG[2] rs71012280
NM_022124.6(CDH23):c.-45AGGCG[4] rs71012280
NM_022124.6(CDH23):c.1089C>T (p.Val363=) rs556135873
NM_022124.6(CDH23):c.1246_1266del (p.Ala416_Glu422del) rs397517305
NM_022124.6(CDH23):c.2193G>C (p.Thr731=) rs397517315
NM_022124.6(CDH23):c.2290-13del rs397517316
NM_022124.6(CDH23):c.2954-5del rs766850828
NM_022124.6(CDH23):c.3133G>T (p.Val1045Leu) rs377100683
NM_022124.6(CDH23):c.5130C>A (p.Ile1710=) rs111033487
NM_022124.6(CDH23):c.5130C>T (p.Ile1710=) rs111033487
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu) rs74145660
NM_022124.6(CDH23):c.5712+1G>A rs397517341
NM_022124.6(CDH23):c.572G>A (p.Arg191Gln) rs372588663
NM_022124.6(CDH23):c.6654C>A (p.Asp2218Glu) rs537236734
NM_022124.6(CDH23):c.7483-1G>C rs876657682
NM_024009.3(GJB3):c.109G>A (p.Val37Met) rs148388884
NM_024009.3(GJB3):c.479G>A (p.Arg160His) rs200055020
NM_024009.3(GJB3):c.652_663del (p.Leu218_Asp221del) rs727503069
NM_024022.2(TMPRSS3):c.617-3_617-2dup rs34966432
NM_024298.5(MBOAT7):c.680_690dup (p.Leu231fs) rs1264222654
NM_024334.3(TMEM43):c.163-3del rs371706980
NM_024408.4(NOTCH2):c.17_18del (p.Pro6fs) rs372504208
NM_024422.6(DSC2):c.1350A>G (p.Arg450=) rs144242114
NM_024422.6(DSC2):c.2125+1del rs794728072
NM_024422.6(DSC2):c.2365GGA[1] (p.Gly790del) rs377272752
NM_024422.6(DSC2):c.2398del (p.Ala800fs) rs397517399
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs) rs200056085
NM_024422.6(DSC2):c.70-11del rs572309510
NM_024422.6(DSC2):c.942+13_942+15dup rs5823783
NM_024685.4(BBS10):c.1091del (p.Asn364fs) rs727503818
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer) rs775950661
NM_024685.4(BBS10):c.646dup (p.Asp216fs) rs1555202695
NM_024747.6(HPS6):c.238dup (p.Asp80fs) rs281865108
NM_024915.4(GRHL2):c.1764-12C>G rs371424751
NM_030662.4(MAP2K2):c.49A>G (p.Thr17Ala) rs397517415
NM_030662.4(MAP2K2):c.705+11G>A rs202086678
NM_030662.4(MAP2K2):c.806C>G (p.Pro269Arg) rs368064728
NM_030662.4(MAP2K2):c.860AAG[1] (p.Glu288del) rs763469132
NM_030787.4(CFHR5):c.486dup (p.Glu163fs) rs565457964
NM_031885.5(BBS2):c.661del (p.Leu221fs) rs770258677
NM_032119.4(ADGRV1):c.1049C>A (p.Thr350Asn) rs727504607
NM_032119.4(ADGRV1):c.11115A>T (p.Ser3705=) rs138029547
NM_032119.4(ADGRV1):c.1180del (p.Ser394fs) rs1400695342
NM_032119.4(ADGRV1):c.12506A>G (p.Tyr4169Cys) rs577389548
NM_032119.4(ADGRV1):c.12830G>T (p.Arg4277Leu) rs571603222
NM_032119.4(ADGRV1):c.13590C>T (p.Pro4530=) rs41311745
NM_032119.4(ADGRV1):c.13714A>T (p.Ile4572Phe) rs727503082
NM_032119.4(ADGRV1):c.14432C>T (p.Pro4811Leu) rs201747452
NM_032119.4(ADGRV1):c.14496C>A (p.Asp4832Glu) rs753803615
NM_032119.4(ADGRV1):c.14719G>A (p.Val4907Ile) rs373391623
NM_032119.4(ADGRV1):c.17017A>G (p.Lys5673Glu) rs41303350
NM_032119.4(ADGRV1):c.17303_17315del (p.Gly5768fs) rs727504644
NM_032119.4(ADGRV1):c.18803-4G>T rs80335659
NM_032119.4(ADGRV1):c.3978T>A (p.Asp1326Glu) rs546224817
NM_032119.4(ADGRV1):c.5104C>T (p.Pro1702Ser) rs535038304
NM_032119.4(ADGRV1):c.5785G>T (p.Ala1929Ser) rs41311335
NM_032119.4(ADGRV1):c.5830G>A (p.Asp1944Asn) rs41302834
NM_032119.4(ADGRV1):c.5953A>C (p.Asn1985His) rs41303352
NM_032119.4(ADGRV1):c.5953A>G (p.Asn1985Asp) rs41303352
NM_032119.4(ADGRV1):c.7150C>T (p.Arg2384Trp) rs377475657
NM_032119.4(ADGRV1):c.7176C>T (p.Ser2392=) rs111033452
NM_032119.4(ADGRV1):c.8091C>T (p.Ala2697=) rs556164327
NM_032119.4(ADGRV1):c.8198G>T (p.Arg2733Leu) rs749383906
NM_032119.4(ADGRV1):c.8730+9_8730+10del rs780180737
NM_032119.4(ADGRV1):c.9557C>A (p.Thr3186Asn) rs201511311
NM_032122.5(DTNBP1):c.489-8dup rs199770715
NM_032153.6(ZIC4):c.966G>C (p.Ser322=) rs17509456
NM_032208.3(ANTXR1):c.505C>T (p.Arg169Ter) rs397514700
NM_032578.4(MYPN):c.2863C>T (p.Arg955Trp) rs149887823
NM_032578.4(MYPN):c.935C>T (p.Ser312Phe) rs786205457
NM_033056.3(PCDH15):c.4368-13_4368-10dup rs530804327
NM_033056.4(PCDH15):c.4599_4602dup (p.Gln1535fs) rs781231890
NM_033056.4(PCDH15):c.4681_4684dup (p.Ser1562Ter) rs730880357
NM_033056.4(PCDH15):c.4831_4834dup (p.Thr1612fs) rs545191822
NM_033056.4(PCDH15):c.5245CCT[3] (p.Pro1752del) rs397517462
NM_033056.4(PCDH15):c.5260TCTCCTCCT[1] (p.1754SPP[1]) rs727503363
NM_033056.4(PCDH15):c.5269_5280del (p.Ser1757_Pro1760del) rs397517463
NM_033056.4(PCDH15):c.5281GCTCCT[1] (p.1761AP[1]) rs397517465
NM_033056.4(PCDH15):c.5294_5302del (p.Leu1765_Pro1767del) rs557936064
NM_033056.4(PCDH15):c.5296_5304dup (p.Ala1766_Pro1768dup) rs397517466
NM_033056.4(PCDH15):c.5327_5335del (p.Leu1776_Cys1778del) rs397517467
NM_033056.4(PCDH15):c.5363TTCCTC[1] (p.1788LP[1]) rs779691085
NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del) rs113363047
NM_033118.4(MYLK2):c.254G>A (p.Gly85Glu) rs727505328
NM_033337.3(CAV3):c.277G>A (p.Ala93Thr) rs28936686
NM_033380.3(COL4A5):c.406A>G (p.Ser136Gly) rs768580195
NM_033409.4(SLC52A3):c.705C>T (p.Leu235=) rs3746806
NM_053025.4(MYLK):c.3193GAA[1] (p.Glu1066del) rs75967604
NM_053025.4(MYLK):c.4289-10dup rs41431347
NM_080680.3(COL11A2):c.1119+1G>C rs367706373
NM_080680.3(COL11A2):c.1427C>T (p.Ala476Val) rs373983482
NM_080680.3(COL11A2):c.1666-11CCT[2] rs147815324
NM_080680.3(COL11A2):c.2065C>T (p.Pro689Ser) rs766440021
NM_080680.3(COL11A2):c.2529+13del rs763299239
NM_080680.3(COL11A2):c.2584-5del rs555657704
NM_080680.3(COL11A2):c.2629-15dup rs727502942
NM_080680.3(COL11A2):c.3100C>T (p.Arg1034Cys) rs121912947
NM_080680.3(COL11A2):c.3111G>T (p.Pro1037=) rs146093235
NM_080680.3(COL11A2):c.3343C>T (p.Pro1115Ser) rs372806452
NM_080680.3(COL11A2):c.3622C>T (p.Pro1208Ser) rs374515005
NM_080680.3(COL11A2):c.4786C>T (p.Arg1596Trp) rs778962979
NM_080680.3(COL11A2):c.966dup (p.Thr323fs) rs748440351
NM_080860.4(RSPH1):c.563T>G (p.Leu188Ter) rs727503394
NM_133261.3(GIPC3):c.69G>A (p.Ala23=) rs150473323
NM_133261.3(GIPC3):c.821C>T (p.Ala274Val) rs149028750
NM_133379.5(TTN):c.10559C>T (p.Pro3520Leu) rs189445085
NM_133379.5(TTN):c.15285_15317dup (p.5058TLERYSTPPGE[6]) rs397517815
NM_138691.3(TMC1):c.238GAA[3] (p.Glu83del) rs376040866
NM_138691.3(TMC1):c.741+1G>A rs1588067173
NM_138694.4(PKHD1):c.1830T>A (p.Tyr610Ter) rs749293235
NM_138694.4(PKHD1):c.9559del (p.Ser3187fs) rs797045101
NM_139319.3(SLC17A8):c.1298-14dup rs730880358
NM_144498.4(OSBPL2):c.*23C>G rs115390538
NM_144498.4(OSBPL2):c.*23C>T rs115390538
NM_144573.4(NEXN):c.1573GAA[3] (p.Glu528del) rs764505909
NM_144573.4(NEXN):c.1671GGA[2] (p.Glu561_Glu562del) rs397517848
NM_144573.4(NEXN):c.299-14del rs397517855
NM_144573.4(NEXN):c.989AAG[2] (p.Glu332del) rs727505124
NM_144672.4(OTOA):c.1880C>G (p.Pro627Arg) rs727503351
NM_144672.4(OTOA):c.746_751delinsA (p.Ser249fs) rs876657716
NM_144997.7(FLCN):c.1177-5_1177-3del rs767671406
NM_144997.7(FLCN):c.553T>C (p.Ser185Pro) rs876657646
NM_147196.3(TMIE):c.367AAG[10] (p.Lys131dup) rs10578999
NM_147196.3(TMIE):c.367AAG[6] (p.Lys129_Lys131del) rs10578999
NM_153676.4(USH1C):c.1801C>A (p.Pro601Thr) rs727503710
NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg) rs41282932
NM_153676.4(USH1C):c.496+13A>G rs111033277
NM_153700.2(STRC):c.5125A>G (p.Thr1709Ala) rs1336307815
NM_170707.4(LMNA):c.1122C>T (p.His374=) rs143715750
NM_170707.4(LMNA):c.1130G>T (p.Arg377Leu) rs61672878
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_170707.4(LMNA):c.1622G>A (p.Arg541His) rs61444459
NM_170707.4(LMNA):c.346C>T (p.Leu116=) rs876657491
NM_170707.4(LMNA):c.356G>C (p.Arg119Pro) rs397517902
NM_170707.4(LMNA):c.868G>A (p.Glu290Lys) rs397517912
NM_172245.4(CSF2RA):c.*49G>T rs28722602
NM_172245.4(CSF2RA):c.774_780+10dup rs377345813
NM_173477.5(USH1G):c.251T>C (p.Leu84Pro) rs397517927
NM_173477.5(USH1G):c.717G>C (p.Lys239Asn) rs544952984
NM_174936.4(PCSK9):c.1394C>T (p.Ser465Leu) rs778849441
NM_177438.3(DICER1):c.4102dup (p.Arg1368fs) rs1890722878
NM_178335.3(CCDC50):c.1231C>T (p.Pro411Ser) rs138707536
NM_178452.6(DNAAF1):c.864-17_864-14del rs141073777
NM_182895.5(SCARF2):c.2240dup (p.Gly749fs) rs5844420
NM_182895.5(SCARF2):c.2292dup (p.Glu765fs) rs5844418
NM_183235.3(RAB27A):c.259G>C (p.Ala87Pro) rs104894497
NM_194248.3(OTOF):c.1469C>G (p.Pro490Arg) rs80356585
NM_194248.3(OTOF):c.1927G>T (p.Glu643Ter) rs200864338
NM_194248.3(OTOF):c.2401_2402delinsTT (p.Glu801Leu) rs111033392
NM_194248.3(OTOF):c.51C>T (p.Gly17=) rs142333075
NM_194248.3(OTOF):c.5479C>T (p.Arg1827Trp) rs142748621
NM_194248.3(OTOF):c.828C>A (p.Cys276Ter) rs111033447
NM_194323.3(OTOF):c.3624del (p.Leu1209fs) rs727505359
NM_198239.2(CCN6):c.740_741del (p.Cys247fs) rs727503755
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del) rs377639087
NM_198253.3(TERT):c.2658C>A (p.Thr886=) rs371744235
NM_201384.3(PLEC):c.10612T>C (p.Leu3538=) rs6992333
NM_201384.3(PLEC):c.2304+9dup rs35671527
NM_201384.3(PLEC):c.378T>C (p.Ala126=) rs6993938
NM_203447.4(DOCK8):c.2017A>T (p.Ile673Phe) rs372858877
NM_206883.2(SLC26A5):c.292+8_292+9dup rs112791865
NM_206933.4(USH2A):c.1000C>G (p.Arg334Gly) rs397517963
NM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter) rs111033379
NM_206933.4(USH2A):c.10585G>A (p.Gly3529Ser) rs111033439
NM_206933.4(USH2A):c.10759C>T (p.Gln3587Ter) rs111033418
NM_206933.4(USH2A):c.11602A>G (p.Met3868Val) rs35309576
NM_206933.4(USH2A):c.11602A>T (p.Met3868Leu) rs35309576
NM_206933.4(USH2A):c.12294+1G>C rs111033526
NM_206933.4(USH2A):c.12624C>A (p.Asp4208Glu) rs375223901
NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met) rs527236137
NM_206933.4(USH2A):c.13022G>T (p.Cys4341Phe) rs397517985
NM_206933.4(USH2A):c.13222G>A (p.Val4408Ile) rs111033500
NM_206933.4(USH2A):c.13313G>A (p.Trp4438Ter) rs111033417
NM_206933.4(USH2A):c.13808A>C (p.His4603Pro) rs727504551
NM_206933.4(USH2A):c.13857A>G (p.Ser4619=) rs373694614
NM_206933.4(USH2A):c.14027A>G (p.Gln4676Arg) rs397517987
NM_206933.4(USH2A):c.14287G>A (p.Gly4763Arg) rs397517990
NM_206933.4(USH2A):c.15581G>A (p.Arg5194His) rs727505155
NM_206933.4(USH2A):c.1799G>C (p.Gly600Ala) rs772955674
NM_206933.4(USH2A):c.264C>G (p.Cys88Trp) rs368798834
NM_206933.4(USH2A):c.2809+2T>A rs1553320397
NM_206933.4(USH2A):c.2880T>C (p.Asn960=) rs151177516
NM_206933.4(USH2A):c.3547_3548del (p.Ile1183fs) rs397518013
NM_206933.4(USH2A):c.4189_4193dup (p.Ile1399fs) rs1553313308
NM_206933.4(USH2A):c.4252-36CTTT[5] rs372388546
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp) rs727505116
NM_206933.4(USH2A):c.5504C>T (p.Ser1835Leu) rs199645514
NM_206933.4(USH2A):c.5788C>T (p.Arg1930Ter) rs397518021
NM_206933.4(USH2A):c.6289_6302del (p.Leu2096_Ile2097insTer) rs111033268
NM_206933.4(USH2A):c.6486G>A (p.Gln2162=) rs397518025
NM_206933.4(USH2A):c.6510T>G (p.Ser2170Arg) rs373604102
NM_206933.4(USH2A):c.6565A>G (p.Ile2189Val) rs542406401
NM_206933.4(USH2A):c.6711C>A (p.Asp2237Glu) rs138959688
NM_206933.4(USH2A):c.6721C>T (p.Pro2241Ser) rs111033412
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met) rs550772689
NM_206933.4(USH2A):c.6795_6797del (p.Glu2265_Tyr2266delinsAsp) rs727503723
NM_206933.4(USH2A):c.7718G>A (p.Arg2573His) rs189748047
NM_206933.4(USH2A):c.8709C>T (p.Phe2903=) rs397518040
NM_206933.4(USH2A):c.8845+6_8845+9del rs541344995
NM_206933.4(USH2A):c.9258+3T>C rs1553268427
NM_206937.2(LIG4):c.879_883del (p.Asn294fs) rs751070095
NM_207034.3(EDN3):c.49G>A (p.Ala17Thr) rs11570255
NM_207034.3(EDN3):c.565dup (p.Thr189fs) rs11570344
NM_207352.4(CYP4V2):c.802-8_810delinsGC rs207482233
NM_213599.3(ANO5):c.364-8del rs146983312
NM_213599.3(ANO5):c.966A>T (p.Leu322Phe) rs7481951
NR_178195.1(LFNG):n.265_268GATG[6] rs34637446
Single allele
m.1095T>C rs267606618
m.1193T>C rs111033321
m.1393G>A rs111033325
m.1442G>A rs28358573
m.7468C>T rs111033173

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