ClinVar Miner

Variants from Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen with conflicting interpretations

Location: Germany  Primary collection method: clinical testing
Minimum review status of the submission from Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen: Collection method of the submission from Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

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
1877 1182 6 731 6 11 176 842

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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen pathogenic likely pathogenic uncertain significance likely benign benign association not found drug response other
pathogenic 6 411 63 4 4 1 4 5
likely pathogenic 320 0 98 8 1 0 0 1
uncertain significance 6 6 0 6 0 0 0 0

Submitter to submitter summary #

Total submitters: 209
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 0 811 0 156 0 0 32 188
Labcorp Genetics (formerly Invitae), Labcorp 0 546 1 121 3 0 31 156
CeGaT Center for Human Genetics Tuebingen 0 553 0 94 0 0 22 116
Revvity Omics, Revvity 0 230 0 44 0 0 10 54
Eurofins Ntd Llc (ga) 0 203 0 26 0 4 20 50
OMIM 0 164 5 38 0 2 4 49
PreventionGenetics, part of Exact Sciences 0 304 0 37 0 0 7 44
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 150 0 41 0 0 2 43
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 92 0 15 0 0 17 32
Mayo Clinic Laboratories, Mayo Clinic 0 185 0 18 0 0 13 31
Institute of Human Genetics, University of Leipzig Medical Center 0 71 0 23 0 0 3 26
3billion 0 114 0 22 0 0 2 24
Genetic Services Laboratory, University of Chicago 0 62 0 19 0 0 5 24
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 35 0 11 0 0 13 24
Counsyl 0 11 0 17 0 0 5 22
Athena Diagnostics 0 120 0 17 0 0 4 21
Baylor Genetics 0 80 0 16 0 0 5 21
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 156 0 17 0 0 2 19
Clinical Genetics Laboratory, Skane University Hospital Lund 0 145 0 18 0 0 1 19
Dasa 0 140 0 18 0 0 0 18
Variantyx, Inc. 0 60 0 18 0 0 0 18
AiLife Diagnostics, AiLife Diagnostics 0 31 0 16 0 0 0 16
Quest Diagnostics Nichols Institute San Juan Capistrano 0 144 0 13 0 0 3 16
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 79 0 9 0 0 5 14
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 124 0 10 0 0 4 14
Fulgent Genetics, Fulgent Genetics 0 74 0 13 0 0 1 14
Genome-Nilou Lab 0 56 0 12 0 0 1 13
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 69 0 12 0 0 1 13
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 62 0 10 0 0 3 13
NIHR Bioresource Rare Diseases, University of Cambridge 0 10 0 13 0 0 0 13
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 64 0 12 0 0 1 13
Clinical Genetics, Academic Medical Center 0 56 0 10 0 0 2 12
Ambry Genetics 0 65 0 7 1 0 3 11
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 34 0 9 0 0 2 11
Centre of Medical Genetics, University Hospital Muenster 0 29 0 9 0 0 2 11
Clinical Genetics and Genomics, Karolinska University Hospital 0 68 0 11 0 0 0 11
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 75 0 8 0 0 3 11
Department of Pathology and Laboratory Medicine, Sinai Health System 0 42 0 4 0 0 6 10
Illumina Laboratory Services, Illumina 0 66 0 8 1 0 1 10
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 24 0 8 0 0 2 10
Mendelics 0 27 0 6 0 0 4 10
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 0 47 0 5 0 0 4 9
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 28 0 7 1 0 1 9
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 52 0 8 0 0 1 9
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 41 0 8 0 0 1 9
MGZ Medical Genetics Center 0 41 0 6 0 0 3 9
Blueprint Genetics 0 27 0 7 0 0 1 8
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 52 0 7 0 0 1 8
Genomics England Pilot Project, Genomics England 0 6 0 8 0 0 0 8
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 13 0 7 0 0 1 8
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 51 0 6 0 0 1 7
Juno Genomics, Hangzhou Juno Genomics, Inc 0 30 0 6 0 0 1 7
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 23 0 6 0 0 1 7
Natera, Inc. 0 48 0 7 0 0 0 7
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 19 0 3 0 0 3 6
Institute of Medical Molecular Genetics, University of Zurich 0 1 0 6 0 0 0 6
Kariminejad - Najmabadi Pathology & Genetics Center 0 11 0 6 0 0 0 6
NHS Central & South Genomic Laboratory Hub 0 34 0 6 0 0 0 6
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 43 0 3 0 0 2 5
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 11 0 4 0 0 1 5
Department of Human Genetics, Hannover Medical School 0 20 0 5 0 0 0 5
Institute of Human Genetics Munich, TUM University Hospital 0 33 0 5 0 0 0 5
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 8 0 5 0 0 0 5
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking C/o Practice Pomarino 0 6 0 5 0 0 0 5
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 21 0 3 0 0 1 4
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 40 0 2 0 0 2 4
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital 0 11 0 3 0 0 1 4
ClinPGx 0 0 0 0 0 4 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 15 0 4 0 0 0 4
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 8 0 4 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 9 0 1 0 0 3 4
Leiden Open Variation Database 0 18 0 3 0 0 1 4
Myriad Genetics, Inc. 0 28 0 3 0 0 1 4
OLLIN Analises Genomicas, OLLIN 0 6 0 4 0 0 0 4
Yale Center for Mendelian Genomics, Yale University 0 1 0 4 0 0 0 4
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 17 0 3 0 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 2 0 3 0 0 0 3
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 33 0 2 0 0 1 3
Color Diagnostics, LLC DBA Color Health 0 7 0 1 0 0 2 3
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 9 0 3 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 0 20 0 3 0 0 0 3
Genomics and Molecular Medicine Service, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 19 0 2 0 0 1 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 15 0 3 0 0 0 3
Institute of Immunology and Genetics Kaiserslautern 0 6 0 3 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 11 0 3 0 0 0 3
Laboratoire Génétique Moléculaire, CHRU TOURS 0 2 0 3 0 0 0 3
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 7 0 1 0 0 2 3
Molecular Pathology, Peter Maccallum Cancer Centre 0 2 0 1 0 0 2 3
Neuberg Centre For Genomic Medicine, NCGM 0 26 0 3 0 0 0 3
Ocular Genomics Institute, Massachusetts Eye and Ear 0 5 0 3 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 45 0 3 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 1 0 2 0 0 1 3
Service de Génétique Moléculaire, Hôpital Robert Debré 0 5 0 3 0 0 0 3
SingHealth Duke-NUS Institute of Precision Medicine 0 2 0 3 0 0 0 3
Solve-RD Consortium 0 1 0 3 0 0 0 3
UCLA Clinical Genomics Center, UCLA 0 1 0 3 0 0 0 3
Undiagnosed Diseases Network, NIH 0 9 0 3 0 0 0 3
All of Us Research Program, National Institutes of Health 0 7 0 1 0 0 1 2
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 0 0 2 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 7 0 2 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 3 0 2 0 0 0 2
Center for Personalized Medicine, Children's Hospital Los Angeles 0 6 0 2 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 12 0 1 0 0 1 2
Clinical Genomics Laboratory, Stanford Medicine 0 6 0 1 0 0 1 2
Department of Clinical Genetics, Medical University of Lodz 0 0 0 2 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 7 0 1 0 0 1 2
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 17 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 13 0 2 0 0 0 2
Inherited Neuropathy Consortium 0 0 0 0 0 0 2 2
Institute for Integrative and Experimental Genomics, University of Luebeck 0 0 0 1 0 0 1 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 4 0 2 0 0 0 2
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 24 0 2 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 10 0 2 0 0 0 2
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 0 2 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 8 0 2 0 0 0 2
LDLR-LOVD, British Heart Foundation 0 3 0 2 0 0 0 2
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 2 0 2 0 0 0 2
Laboratory of Medical Genetics, University of Torino 0 0 0 2 0 0 0 2
Laboratory of Molecular Genetics, CHU Rennes 0 0 0 1 0 0 1 2
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 18 0 2 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 3 0 2 0 0 0 2
Molecular Genetics laboratory, Necker Hospital 0 5 0 2 0 0 0 2
Paris Brain Institute, Inserm - ICM 0 2 0 2 0 0 0 2
Robarts Research Institute, Western University 0 0 0 2 0 0 0 2
Sharon lab, Hadassah-Hebrew University Medical Center 0 3 0 2 0 0 0 2
University of Washington Department of Laboratory Medicine, University of Washington 0 3 0 1 0 0 1 2
Autoinflammatory diseases unit, CHU de Montpellier 0 1 0 1 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 2 0 1 0 0 0 1
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 0 0 1 0 0 1
Biochemistry Laboratory of CDMU, Chengde Medical University 0 0 0 0 0 0 1 1
Bodamer Research Lab, Boston Children's Hospital 0 0 0 1 0 0 0 1
CHU Sainte-Justine Research Center, University of Montreal 0 0 0 1 0 0 0 1
CZECANCA consortium 0 35 0 1 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 1 0 1 0 0 0 1
Center for Medical Genetics Ghent, University of Ghent 0 1 0 0 0 0 1 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 1 0 0 0 1
Center of Human Genetics, Hôpital Erasme 0 6 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 13 0 1 0 0 0 1
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 1 0 1 0 0 0 1
Child and Adolescent Psychiatry Residency Program, Foundation for Education and Research in Health Sciences 0 0 0 1 0 0 0 1
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen 0 1 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 1 0 1 0 0 0 1
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 0 2 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 14 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 16 0 1 0 0 0 1
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences 0 0 0 1 0 0 0 1
Department of Medical Genetics, University of Pecs 0 0 0 1 0 0 0 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 1 0 0 0 0 1 1
Department of Molecular Genetics, Istishari Arab Hospital 0 0 0 1 0 0 0 1
Department of Pediatrics, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology 0 0 0 0 0 0 1 1
Department of Vascular Biology, Beijing Anzhen Hospital 0 0 0 1 0 0 0 1
Elsea Laboratory, Baylor College of Medicine 0 1 0 0 0 0 1 1
Endocrine oncology group, Uppsala University 0 0 0 1 0 0 0 1
Faculty of Health Sciences, Beirut Arab University 0 9 0 1 0 0 0 1
GeneReviews 0 46 0 1 0 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 3 0 1 0 0 0 1
Genetic Diagnostic Laboratory, University of Szeged 0 0 0 1 0 0 0 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 0 0 0 1 0 0 0 1
Genetics and Genomics Program, Sidra Medicine 0 0 0 1 0 0 0 1
GenomeConnect - Simons Searchlight 0 1 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 16 0 0 0 0 1 1
Genomics Facility, Ludwig-Maximilians-Universität München 0 1 0 1 0 0 0 1
Gharavi Laboratory, Columbia University 0 8 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 4 0 1 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 3 0 1 0 0 0 1
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences 0 1 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 1 0 1 0 0 0 1
Human Molecular Genetics Laboratory, Federal University of Parana 0 0 0 1 0 0 0 1
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA 0 2 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 15 0 0 0 0 1 1
Institute of Human Genetics, Medical University Innsbruck 0 1 0 1 0 0 0 1
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 0 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 5 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 0 0 0 0 1 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 3 0 1 0 0 0 1
Institute of Tissue Medicine and Pathology, University of Bern 0 0 0 1 0 0 0 1
King Laboratory, University of Washington 0 0 0 0 0 0 1 1
Lab De Baere, Eye and Developmental Genetics Lab, Ghent University 0 1 0 1 0 0 0 1
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 4 0 1 0 0 0 1
Laboratory for Molecular Genetic Diagnostic of Neurological Diseases, University of Belgrade, School of Medicine 0 1 0 1 0 0 0 1
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova 0 2 0 1 0 0 0 1
Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center 0 0 0 1 0 0 0 1
Laboratory of Research in Genomics, Genetics and Bioinformatics, Hospital Infantil de Mexico Federico Gomez 0 1 0 1 0 0 0 1
Leeds Institute of Medical Research, University of Leeds 0 2 0 0 0 0 1 1
Lifecell International Pvt. Ltd 0 5 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 2 0 1 0 0 0 1
Medgenome Labs Pvt Ltd 0 0 0 1 0 0 0 1
Medical Genetics, University of Parma 0 15 0 1 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 0 8 0 1 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 5 0 1 0 0 0 1
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation 0 0 0 1 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 0 0 0 0 1 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 1 0 0 0 1
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University 0 0 0 0 0 1 0 1
New York Genome Center 0 5 0 1 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 0 2 0 1 0 0 0 1
Northcott Neuroscience Laboratory, ANZAC Research Institute 0 0 0 0 0 0 1 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 1 0 0 0 0 1 1
Pediatric Department, Xiangya Hospital, Central South University 0 2 0 1 0 0 0 1
Pediatric Neurology, Shengjing Hospital of China Medical University 0 0 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 12 0 1 0 0 0 1
Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, Mayo Clinic 0 1 0 1 0 0 0 1
Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences 0 0 0 1 0 0 0 1
RettBASE 0 5 0 1 0 0 0 1
Service of Pediatric Gastrohepatology and Metabolic Diseases, University of Medicine of Tirana 0 0 0 1 0 0 0 1
Suma Genomics 0 12 0 0 0 0 1 1
Sydney Genome Diagnostics, Children's Hospital Westmead 0 0 0 1 0 0 0 1
UAB Medical Genomics Laboratory, UAB Medicine 0 1 0 1 0 0 0 1
Versiti Diagnostic Laboratories, Versiti, Inc 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 842
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter) rs17602729 0.08701
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03738
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile) rs34526199 0.02732
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00944
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564 0.00654
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271 0.00561
NM_005105.5(RBM8A):c.67+32G>C rs201779890 0.00518
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
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_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00393
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00391
NM_001098.3(ACO2):c.220C>G (p.Leu74Val) rs141772938 0.00383
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00380
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00364
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00347
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00342
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00337
NM_006416.5(SLC35A1):c.133A>G (p.Thr45Ala) rs145006535 0.00306
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys) rs121912698 0.00260
NM_213599.3(ANO5):c.155A>G (p.Asn52Ser) rs143777403 0.00238
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927 0.00229
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp) rs34424986 0.00226
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00219
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00184
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00164
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_183065.4(TMEM107):c.*759C>T rs201787275 0.00162
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) rs149617956 0.00158
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00151
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00149
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu) rs147231991 0.00146
NM_000372.5(TYR):c.650G>A (p.Arg217Gln) rs61754365 0.00143
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_000406.3(GNRHR):c.785G>A (p.Arg262Gln) rs104893837 0.00132
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00131
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala) rs80265967 0.00121
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411 0.00116
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00115
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519 0.00108
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00102
NM_000036.3(AMPD1):c.468G>T (p.Gln156His) rs139582106 0.00096
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00093
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp) rs142572218 0.00087
NM_022829.6(SLC13A3):c.1016+3A>G rs199961976 0.00078
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00076
NM_000402.4(G6PD):c.934G>C (p.Asp312His) rs137852318 0.00072
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser) rs201652272 0.00068
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr) rs199504211 0.00066
NM_001006658.3(CR2):c.2298G>A (p.Trp766Ter) rs151093663 0.00063
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916 0.00057
NM_021971.4(GMPPB):c.79G>C (p.Asp27His) rs142336618 0.00054
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys) rs116171274 0.00051
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys) rs137854529 0.00046
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr) rs201082652 0.00043
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser) rs190521996 0.00042
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln) rs77563738 0.00041
NM_000199.5(SGSH):c.734G>A (p.Arg245His) rs104894635 0.00039
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_005373.3(MPL):c.305G>C (p.Arg102Pro) rs28928907 0.00035
NM_001142800.2(EYS):c.2137+1G>A rs199740930 0.00034
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00032
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_173477.5(USH1G):c.310A>G (p.Met104Val) rs149529031 0.00031
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00029
NM_001379500.1(COL18A1):c.3523_3524del (p.Leu1175fs) rs398122391 0.00029
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln) rs5742904 0.00028
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu) rs138249161 0.00028
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130 0.00023
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00023
NM_054012.4(ASS1):c.-4C>T rs138350285 0.00022
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_000520.6(HEXA):c.1073+1G>A rs76173977 0.00021
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe) rs150518260 0.00019
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys) rs200945460 0.00019
NM_144687.4(NLRP12):c.1054C>T (p.Arg352Cys) rs199881207 0.00019
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392 0.00017
NM_016035.5(COQ4):c.718C>T (p.Arg240Cys) rs143441644 0.00017
NM_004183.4(BEST1):c.584C>T (p.Ala195Val) rs200277476 0.00016
NM_006767.4(LZTR1):c.264-13G>A rs587777176 0.00016
NM_012452.3(TNFRSF13B):c.311G>A (p.Cys104Tyr) rs72553879 0.00016
NM_147191.1(MMP21):c.1372C>T (p.Arg458Ter) rs145119918 0.00016
NM_213599.3(ANO5):c.1664G>T (p.Ser555Ile) rs375014127 0.00015
NM_213599.3(ANO5):c.2498T>A (p.Met833Lys) rs142073798 0.00014
NM_000329.3(RPE65):c.11+5G>A rs61751276 0.00013
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
NM_017837.4(PIGV):c.1022C>A (p.Ala341Glu) rs139073416 0.00013
NM_030653.4(DDX11):c.1403dup (p.Ser469fs) rs778363138 0.00013
NM_000350.3(ABCA4):c.5196+1137G>A rs778234759 0.00012
NM_007186.6(CEP250):c.4006C>T (p.Arg1336Ter) rs774702094 0.00011
NM_016630.7(SPG21):c.118C>T (p.Arg40Ter) rs555126484 0.00011
NM_017866.6(TMEM70):c.317-2A>G rs183973249 0.00011
NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys) rs74315396 0.00011
NR_029422.2(RNU12):n.86G>A rs548281798 0.00011
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097 0.00010
NM_004153.4(ORC1):c.1996C>T (p.Arg666Trp) rs201253919 0.00010
NM_018082.6(POLR3B):c.2084-6A>G rs747912710 0.00010
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) rs201689565 0.00010
NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro) rs138043021 0.00010
NM_176824.3(BBS7):c.968A>G (p.His323Arg) rs119466001 0.00010
NM_000784.4(CYP27A1):c.1184+1G>A rs587778777 0.00009
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter) rs200440467 0.00009
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu) rs199826737 0.00009
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg) rs201893408 0.00009
NM_213622.4(STAMBP):c.112C>T (p.Arg38Cys) rs143739249 0.00009
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys) rs61750200 0.00008
NM_002693.3(POLG):c.1880G>A (p.Arg627Gln) rs375305567 0.00008
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu) rs13447331 0.00008
NM_018116.4(MSTO1):c.836G>A (p.Arg279His) rs563943670 0.00008
NM_024411.5(PDYN):c.414G>T (p.Arg138Ser) rs267606941 0.00008
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814 0.00008
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr) rs749909863 0.00007
NM_213599.3(ANO5):c.41-1G>A rs398124625 0.00007
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) rs28904921 0.00006
NM_000158.4(GBE1):c.785G>A (p.Arg262His) rs369574719 0.00006
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg) rs397515912 0.00006
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374 0.00006
NM_000350.3(ABCA4):c.768G>T (p.Val256=) rs62645944 0.00006
NM_001379270.1(CNGA1):c.82C>T (p.Arg28Ter) rs199636364 0.00006
NM_006204.4(PDE6C):c.85C>T (p.Arg29Trp) rs121918537 0.00006
NM_012434.5(SLC17A5):c.533del (p.Thr178fs) rs727504156 0.00006
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00006
NM_206933.4(USH2A):c.1036A>C (p.Asn346His) rs369522997 0.00006
NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp) rs539192853 0.00006
NM_206933.4(USH2A):c.8682-9A>G rs372347027 0.00006
NM_000070.3(CAPN3):c.245C>T (p.Pro82Leu) rs886042478 0.00005
NM_000187.4(HGD):c.158G>A (p.Arg53Gln) rs200808744 0.00005
NM_000260.4(MYO7A):c.3862G>C (p.Ala1288Pro) rs749747871 0.00005
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593 0.00005
NM_001166114.2(PNPLA6):c.4045C>T (p.Arg1349Trp) rs374434303 0.00005
NM_001292063.2(OTOG):c.3664C>T (p.Arg1222Ter) rs560339163 0.00005
NM_002878.4(RAD51D):c.796C>T (p.Arg266Cys) rs587781813 0.00005
NM_003119.4(SPG7):c.1948G>A (p.Asp650Asn) rs769602042 0.00005
NM_006269.2(RP1):c.1186C>T (p.Arg396Ter) rs201493928 0.00005
NM_032756.4(HPDL):c.469T>C (p.Trp157Arg) rs567130416 0.00005
NM_138477.4(CDAN1):c.3389C>T (p.Pro1130Leu) rs80338699 0.00005
NM_152443.3(RDH12):c.278T>C (p.Leu93Pro) rs527800020 0.00005
NR_023343.3(RNU4ATAC):n.48G>A rs863225422 0.00005
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226 0.00004
NM_000350.3(ABCA4):c.5642C>T (p.Ala1881Val) rs369973540 0.00004
NM_000371.4(TTR):c.148G>A (p.Val50Met) rs28933979 0.00004
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met) rs118192140 0.00004
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln) rs587778818 0.00004
NM_001048174.2(MUTYH):c.954G>A (p.Ser318=) rs372673338 0.00004
NM_001723.7(DST):c.3370C>T (p.Gln1124Ter) rs201045495 0.00004
NM_014363.6(SACS):c.2439_2440del (p.Val815fs) rs775059063 0.00004
NM_018122.5(DARS2):c.536G>A (p.Arg179His) rs121918210 0.00004
NM_021942.6(TRAPPC11):c.1287+5G>A rs397509418 0.00004
NM_031307.4(PUS3):c.212A>G (p.Tyr71Cys) rs761792490 0.00004
NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter) rs200293302 0.00004
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly) rs121908143 0.00004
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys) rs62635654 0.00004
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter) rs80338714 0.00003
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_000152.5(GAA):c.307T>G (p.Cys103Gly) rs398123174 0.00003
NM_000260.4(MYO7A):c.6439-2A>G rs397516330 0.00003
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404 0.00003
NM_000350.3(ABCA4):c.5381C>A (p.Ala1794Asp) rs61751406 0.00003
NM_000400.4(ERCC2):c.1801C>T (p.Arg601Trp) rs753641926 0.00003
NM_000465.4(BARD1):c.1216C>T (p.Arg406Ter) rs377153250 0.00003
NM_000527.5(LDLR):c.1474G>C (p.Asp492His) rs373646964 0.00003
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys) rs747993448 0.00003
NM_001069.3(TUBB2A):c.743C>T (p.Ala248Val) rs2808001 0.00003
NM_001377.3(DYNC2H1):c.3719T>C (p.Ile1240Thr) rs137853028 0.00003
NM_001384732.1(CPLANE1):c.3380C>T (p.Ser1127Leu) rs375009168 0.00003
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) rs121918044 0.00003
NM_002834.5(PTPN11):c.1282G>A (p.Val428Met) rs397507536 0.00003
NM_002834.5(PTPN11):c.598A>T (p.Asn200Tyr) rs727503381 0.00003
NM_002834.5(PTPN11):c.781C>T (p.Leu261Phe) rs397507525 0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_003680.4(YARS1):c.1099C>T (p.Arg367Trp) rs376054085 0.00003
NM_005957.5(MTHFR):c.1699C>T (p.Arg567Ter) rs140277700 0.00003
NM_014049.5(ACAD9):c.728C>G (p.Thr243Arg) rs368222811 0.00003
NM_014053.4(FLVCR1):c.847G>C (p.Ala283Pro) rs777525949 0.00003
NM_014714.4(IFT140):c.2611C>T (p.Arg871Cys) rs767213195 0.00003
NM_017617.5(NOTCH1):c.3283G>A (p.Asp1095Asn) rs774818130 0.00003
NM_022168.4(IFIH1):c.2465G>A (p.Arg822Gln) rs376048533 0.00003
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln) rs376894444 0.00003
NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter) rs370119681 0.00003
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met) rs28939720 0.00003
NM_206933.4(USH2A):c.12268C>A (p.Pro4090Thr) rs780893919 0.00003
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156 0.00003
NM_206933.4(USH2A):c.949C>A (p.Arg317=) rs111033272 0.00003
NM_207352.4(CYP4V2):c.1199G>A (p.Arg400His) rs199476203 0.00003
NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp) rs772226819 0.00002
NM_000071.3(CBS):c.430G>A (p.Glu144Lys) rs121964966 0.00002
NM_000169.3(GLA):c.335G>A (p.Arg112His) rs372966991 0.00002
NM_000256.3(MYBPC3):c.927-9G>A rs397516083 0.00002
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390 0.00002
NM_000360.4(TH):c.787G>C (p.Gly263Arg) rs755536257 0.00002
NM_000448.3(RAG1):c.2095C>T (p.Arg699Trp) rs199474676 0.00002
NM_000487.6(ARSA):c.251C>T (p.Pro84Leu) rs6151411 0.00002
NM_001097577.3(ANG):c.407C>T (p.Pro136Leu) rs121909543 0.00002
NM_001161.5(NUDT2):c.174G>T (p.Glu58Asp) rs772730170 0.00002
NM_001195248.2(APTX):c.124C>T (p.Arg42Ter) rs201912053 0.00002
NM_001298.3(CNGA3):c.847C>T (p.Arg283Trp) rs104893613 0.00002
NM_002437.5(MPV17):c.376-9T>G rs368900406 0.00002
NM_003322.6(TULP1):c.1199G>A (p.Arg400Gln) rs748972748 0.00002
NM_004415.4(DSP):c.1493C>T (p.Pro498Leu) rs761051181 0.00002
NM_005247.4(FGF3):c.166C>T (p.Leu56Phe) rs782324453 0.00002
NM_006996.3(SLC19A2):c.1001G>A (p.Gly334Asp) rs199921604 0.00002
NM_014694.4(ADAMTSL2):c.340G>A (p.Glu114Lys) rs113994123 0.00002
NM_014714.4(IFT140):c.212C>T (p.Pro71Leu) rs772757427 0.00002
NM_015346.4(ZFYVE26):c.5791-6G>A rs771906344 0.00002
NM_017739.4(POMGNT1):c.636C>T (p.Phe212=) rs190057175 0.00002
NM_018116.4(MSTO1):c.716C>A (p.Ser239Tyr) rs764871960 0.00002
NM_058216.3(RAD51C):c.706-2A>G rs587780259 0.00002
NM_152443.3(RDH12):c.481C>T (p.Arg161Trp) rs759408031 0.00002
NM_152564.5(VPS13B):c.11239C>T (p.Gln3747Ter) rs386834061 0.00002
NM_000022.4(ADA):c.631C>T (p.Arg211Cys) rs121908740 0.00001
NM_000026.4(ADSL):c.1186C>T (p.Arg396Cys) rs755492501 0.00001
NM_000049.4(ASPA):c.503G>A (p.Arg168His) rs770706390 0.00001
NM_000051.4(ATM):c.1898+2T>G rs587782124 0.00001
NM_000051.4(ATM):c.3576G>A (p.Lys1192=) rs587776551 0.00001
NM_000051.4(ATM):c.3848T>C (p.Leu1283Pro) rs730881389 0.00001
NM_000051.4(ATM):c.3G>A (p.Met1Ile) rs781404312 0.00001
NM_000051.4(ATM):c.5763-1056G>A rs1325461375 0.00001
NM_000051.4(ATM):c.7630-2A>C rs587779866 0.00001
NM_000051.4(ATM):c.875C>T (p.Pro292Leu) rs747727055 0.00001
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val) rs775055397 0.00001
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp) rs142004418 0.00001
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln) rs80356702 0.00001
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro) rs780825099 0.00001
NM_000188.3(HK1):c.2539G>A (p.Glu847Lys) rs777849213 0.00001
NM_000199.5(SGSH):c.544C>T (p.Arg182Cys) rs529855742 0.00001
NM_000218.3(KCNQ1):c.1097G>A (p.Arg366Gln) rs199473410 0.00001
NM_000218.3(KCNQ1):c.502G>A (p.Gly168Arg) rs179489 0.00001
NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter) rs368765949 0.00001
NM_000260.4(MYO7A):c.1097T>C (p.Leu366Pro) rs397516281 0.00001
NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro) rs368657015 0.00001
NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs) rs756815030 0.00001
NM_000303.3(PMM2):c.255G>A (p.Gln85=) rs115344041 0.00001
NM_000335.5(SCN5A):c.1890G>A (p.Thr630=) rs1204915217 0.00001
NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg) rs61748558 0.00001
NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys) rs61749420 0.00001
NM_000350.3(ABCA4):c.214G>A (p.Gly72Arg) rs61751412 0.00001
NM_000350.3(ABCA4):c.2401G>A (p.Ala801Thr) rs374410829 0.00001
NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg) rs61750146 0.00001
NM_000350.3(ABCA4):c.4926C>G (p.Ser1642Arg) rs61753017 0.00001
NM_000350.3(ABCA4):c.5578C>T (p.Arg1860Trp) rs200849015 0.00001
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter) rs61751383 0.00001
NM_000350.3(ABCA4):c.6386+2C>G rs61753043 0.00001
NM_000350.3(ABCA4):c.868C>T (p.Arg290Trp) rs781716640 0.00001
NM_000363.5(TNNI3):c.497C>T (p.Ser166Phe) rs727504242 0.00001
NM_000404.4(GLB1):c.699del (p.Gln234fs) rs1452318343 0.00001
NM_000435.3(NOTCH3):c.544C>T (p.Arg182Cys) rs28933697 0.00001
NM_000440.3(PDE6A):c.1630C>T (p.Arg544Trp) rs144484128 0.00001
NM_000478.6(ALPL):c.1403C>T (p.Ala468Val) rs766656419 0.00001
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser) rs74315459 0.00001
NM_000521.4(HEXB):c.771+985G>A rs1210377071 0.00001
NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter) rs200750564 0.00001
NM_000527.5(LDLR):c.1285G>A (p.Val429Met) rs28942078 0.00001
NM_000527.5(LDLR):c.313+2T>C rs793888517 0.00001
NM_000540.3(RYR1):c.1951C>T (p.Arg651Ter) rs754522209 0.00001
NM_000546.6(TP53):c.473G>A (p.Arg158His) rs587782144 0.00001
NM_000554.6(CRX):c.122G>A (p.Arg41Gln) rs61748436 0.00001
NM_000784.4(CYP27A1):c.1213C>T (p.Arg405Trp) rs573951598 0.00001
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp) rs72551312 0.00001
NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro) rs201346271 0.00001
NM_001009944.3(PKD1):c.6643C>T (p.Arg2215Trp) rs752793757 0.00001
NM_001009944.3(PKD1):c.9202-16G>A rs1389523126 0.00001
NM_001031710.3(KLHL7):c.1258C>T (p.Arg420Cys) rs780705654 0.00001
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter) rs760703505 0.00001
NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu) rs374950566 0.00001
NM_001114753.3(ENG):c.-10C>T rs756994701 0.00001
NM_001126108.2(SLC12A3):c.488C>T (p.Thr163Met) rs267607050 0.00001
NM_001127178.3(PIGG):c.2569C>T (p.Gln857Ter) rs1294683568 0.00001
NM_001166114.2(PNPLA6):c.3805C>T (p.Arg1269Cys) rs2024064953 0.00001
NM_001244008.2(KIF1A):c.3826C>T (p.Arg1276Ter) rs368078424 0.00001
NM_001256317.3(TMPRSS3):c.1340T>C (p.Met447Thr) rs201018751 0.00001
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu) rs753334568 0.00001
NM_001278512.2(AP3B2):c.2978_2979del (p.Pro993fs) rs1347618037 0.00001
NM_001308093.3(GATA4):c.851G>A (p.Arg284His) rs180765750 0.00001
NM_001330691.3(CEP78):c.1424del (p.Val475fs) rs1196886096 0.00001
NM_001330691.3(CEP78):c.449T>C (p.Leu150Ser) rs761661253 0.00001
NM_001330691.3(CEP78):c.966G>A (p.Trp322Ter) rs1322721879 0.00001
NM_001371596.2(MFSD8):c.1361T>C (p.Met454Thr) rs559155109 0.00001
NM_001384140.1(PCDH15):c.1997+1G>A rs763797356 0.00001
NM_001384140.1(PCDH15):c.3983+1G>T rs758921360 0.00001
NM_001605.3(AARS1):c.2738G>A (p.Gly913Asp) rs369774476 0.00001
NM_002335.4(LRP5):c.1321G>A (p.Glu441Lys) rs376152274 0.00001
NM_002522.4(NPTX1):c.1165G>A (p.Gly389Arg) rs1466750124 0.00001
NM_002693.3(POLG):c.926G>A (p.Arg309His) rs780953863 0.00001
NM_003119.4(SPG7):c.759-2A>G rs770299071 0.00001
NM_003361.4(UMOD):c.326T>A (p.Val109Glu) rs780462125 0.00001
NM_003907.3(EIF2B5):c.913A>T (p.Met305Leu) rs200143780 0.00001
NM_004004.6(GJB2):c.246C>G (p.Ile82Met) rs781534323 0.00001
NM_004183.4(BEST1):c.400C>G (p.Leu134Val) rs753614067 0.00001
NM_004183.4(BEST1):c.932T>G (p.Val311Gly) rs1941820458 0.00001
NM_004984.4(KIF5A):c.1636C>T (p.Arg546Ter) rs185438769 0.00001
NM_005476.7(GNE):c.736C>T (p.Arg246Trp) rs773729410 0.00001
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter) rs119103255 0.00001
NM_006005.3(WFS1):c.1037C>T (p.Pro346Leu) rs773900146 0.00001
NM_006070.6(TFG):c.317G>A (p.Arg106His) rs376971794 0.00001
NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met) rs121434502 0.00001
NM_006343.3(MERTK):c.2163T>A (p.His721Gln) rs749472520 0.00001
NM_006612.6(KIF1C):c.527C>T (p.Pro176Leu) rs772475828 0.00001
NM_006907.4(PYCR1):c.356G>A (p.Arg119His) rs121918377 0.00001
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys) rs201206424 0.00001
NM_007194.4(CHEK2):c.1486C>T (p.Gln496Ter) rs756250205 0.00001
NM_007194.4(CHEK2):c.592+3A>T rs587782849 0.00001
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter) rs80357433 0.00001
NM_007375.4(TARDBP):c.881G>T (p.Gly294Val) rs80356721 0.00001
NM_014249.4(NR2E3):c.263G>T (p.Gly88Val) rs1278137915 0.00001
NM_014946.4(SPAST):c.1685G>A (p.Arg562Gln) rs863224923 0.00001
NM_015046.7(SETX):c.5825T>C (p.Ile1942Thr) rs773379832 0.00001
NM_015166.4(MLC1):c.177+1G>T rs1374593138 0.00001
NM_016035.5(COQ4):c.437T>G (p.Phe146Cys) rs1163170578 0.00001
NM_019842.4(KCNQ5):c.2725C>T (p.Arg909Ter) rs776643693 0.00001
NM_021222.3(PRUNE1):c.316G>A (p.Asp106Asn) rs773618224 0.00001
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys) rs745571683 0.00001
NM_024577.4(SH3TC2):c.805+2T>C rs139052887 0.00001
NM_024675.4(PALB2):c.108+1G>A rs1060499814 0.00001
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter) rs180177100 0.00001
NM_024675.4(PALB2):c.1653T>A (p.Tyr551Ter) rs118203997 0.00001
NM_024675.4(PALB2):c.196C>T (p.Gln66Ter) rs180177083 0.00001
NM_024989.4(PGAP1):c.691C>T (p.Arg231Ter) rs1364192556 0.00001
NM_030954.4(RNF170):c.396+3A>G rs1159600703 0.00001
NM_032119.4(ADGRV1):c.4378G>A (p.Gly1460Ser) rs1303930496 0.00001
NM_032756.4(HPDL):c.149G>A (p.Gly50Asp) rs1391712320 0.00001
NM_057175.5(NAA15):c.239_240del (p.His80fs) rs779009256 0.00001
NM_058216.3(RAD51C):c.904+5G>T rs587782702 0.00001
NM_058216.3(RAD51C):c.905-2_905-1del rs587781995 0.00001
NM_138422.4(ADAT3):c.430G>A (p.Val144Met) rs730882213 0.00001
NM_145207.3(AFG2A):c.2321G>A (p.Arg774His) rs539850739 0.00001
NM_170707.4(LMNA):c.1412G>A (p.Arg471His) rs267607578 0.00001
NM_176787.5(PIGN):c.1434+5G>A rs369486176 0.00001
NM_176787.5(PIGN):c.163C>T (p.Arg55Ter) rs768412580 0.00001
NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp) rs267607017 0.00001
NM_201548.5(CERKL):c.356G>A (p.Gly119Asp) rs1003615909 0.00001
NM_206933.4(USH2A):c.2617G>A (p.Gly873Arg) rs1037325220 0.00001
NM_206933.4(USH2A):c.653T>A (p.Val218Glu) rs397518026 0.00001
NM_206933.4(USH2A):c.8254G>A (p.Gly2752Arg) rs201863550 0.00001
NM_207352.4(CYP4V2):c.253C>T (p.Arg85Cys) rs199476186 0.00001
NC_012920.1(MT-ATP6):m.9185T>C rs199476138
NC_012920.1(MT-CO1):m.7444G>A rs199474822
NC_012920.1(MT-ND1):m.3946G>A rs199476123
NC_012920.1(MT-TL1):m.3243A>G rs199474657
NC_012920.1(MT-TV):m.1661A>G rs1057516055
NM_000021.4(PSEN1):c.254T>C (p.Leu85Pro) rs63750599
NM_000033.4(ABCD1):c.1463TGG[2] (p.Val490del) rs1603234766
NM_000033.4(ABCD1):c.1780G>A (p.Gly594Ser) rs2148398002
NM_000033.4(ABCD1):c.533A>C (p.Gln178Pro) rs2091708025
NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp) rs1131691916
NM_000044.6(AR):c.1715A>G (p.Tyr572Cys) rs1925886715
NM_000049.4(ASPA):c.884T>C (p.Phe295Ser) rs2543658214
NM_000051.3(ATM):c.2839-579_2839-576del rs587776552
NM_000051.4(ATM):c.2922-50_2940del rs1555084832
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer) rs587781831
NM_000051.4(ATM):c.478_482del (p.Ser160fs) rs587780624
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp) rs397514577
NM_000051.4(ATM):c.743G>T (p.Arg248Leu) rs769166447
NM_000053.4(ATP7B):c.3895C>T (p.Leu1299Phe) rs749472361
NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter) rs572147914
NM_000059.4(BRCA2):c.6466_6469del (p.Ser2156fs) rs80359596
NM_000059.4(BRCA2):c.7975A>G (p.Arg2659Gly) rs80359026
NM_000059.4(BRCA2):c.8165C>G (p.Thr2722Arg) rs80359062
NM_000059.4(BRCA2):c.8954-5A>G rs886040949
NM_000090.4(COL3A1):c.3070C>T (p.Arg1024Ter) rs587779479
NM_000095.3(COMP):c.2152C>T (p.Arg718Trp) rs28936368
NM_000111.3(SLC26A3):c.1312-1G>T rs386833449
NM_000112.4(SLC26A2):c.1806_1809del (p.Thr603fs) rs1057517530
NM_000127.3(EXT1):c.608A>G (p.Tyr203Cys) rs1817876107
NM_000135.4(FANCA):c.2T>A (p.Met1Lys) rs769479800
NM_000138.5(FBN1):c.1090C>T (p.Arg364Ter) rs794728165
NM_000138.5(FBN1):c.7871A>G (p.Asn2624Ser) rs113935744
NM_000142.5(FGFR3):c.2419T>C (p.Ter807Arg) rs121913101
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000161.3(GCH1):c.626+1G>A rs1555358507
NM_000168.6(GLI3):c.2647G>T (p.Glu883Ter) rs1787185991
NM_000179.3(MSH6):c.3173-1_3173del rs587779256
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000188.3(HK1):c.1334C>T (p.Ser445Leu) rs1064794848
NM_000188.3(HK1):c.1370C>T (p.Thr457Met) rs1057517928
NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000195.5(HPS1):c.972dup (p.Met325fs) rs281865082
NM_000218.3(KCNQ1):c.825CTC[1] (p.Ser277del) rs397508127
NM_000238.4(KCNH2):c.157G>C (p.Gly53Arg) rs199472842
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000249.4(MLH1):c.1559-1G>A rs267607837
NM_000256.3(MYBPC3):c.506-2A>G rs397516057
NM_000256.3(MYBPC3):c.913_914delTT rs397516080
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln) rs121913641
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg) rs121913632
NM_000260.4(MYO7A):c.1348G>C (p.Glu450Gln) rs1269622956
NM_000260.4(MYO7A):c.3109-2A>G rs781977497
NM_000260.4(MYO7A):c.3764del (p.Lys1255fs) rs111033347
NM_000260.4(MYO7A):c.5208dup (p.Lys1737fs) rs111033276
NM_000260.4(MYO7A):c.5749G>T (p.Glu1917Ter) rs780609120
NM_000264.5(PTCH1):c.2833C>T (p.Arg945Ter) rs1064794260
NM_000264.5(PTCH1):c.689C>T (p.Thr230Ile) rs1554700630
NM_000266.4(NDP):c.112C>T (p.Arg38Cys) rs758550101
NM_000273.3(GPR143):c.232G>A (p.Asp78Asn) rs62635024
NM_000276.4(OCRL):c.2581G>A (p.Ala861Thr) rs2124430527
NM_000284.4(PDHA1):c.1133G>A (p.Arg378His) rs137853250
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs) rs606231189
NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser) rs1555933963
NM_000286.3(PEX12):c.959C>T (p.Ser320Phe) rs28936697
NM_000297.4(PKD2):c.1843G>A (p.Ala615Thr) rs1216272782
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp) rs61755792
NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln) rs61755793
NM_000322.5(PRPH2):c.589A>G (p.Lys197Glu) rs62645931
NM_000322.5(PRPH2):c.634A>G (p.Ser212Gly) rs61755800
NM_000322.5(PRPH2):c.646C>T (p.Pro216Ser) rs61755805
NM_000322.5(PRPH2):c.797G>A (p.Gly266Asp) rs62645935
NM_000322.5(PRPH2):c.948G>A (p.Trp316Ter) rs1554268521
NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp) rs62653015
NM_000330.4(RS1):c.266A>G (p.Tyr89Cys) rs61752060
NM_000330.4(RS1):c.579dup (p.Ile194fs) rs199469697
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del) rs749697698
NM_000350.3(ABCA4):c.2948C>T (p.Thr983Ile) rs61752411
NM_000350.3(ABCA4):c.3287C>T (p.Ser1096Leu) rs763267492
NM_000350.3(ABCA4):c.3413T>A (p.Leu1138His) rs1287053724
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs) rs281865377
NM_000350.3(ABCA4):c.5512C>G (p.His1838Asp) rs62642562
NM_000350.3(ABCA4):c.571-1G>T rs61748533
NM_000350.3(ABCA4):c.6215G>A (p.Ser2072Asn) rs1553186514
NM_000350.3(ABCA4):c.6238_6239del (p.Ser2080fs) rs281865382
NM_000350.3(ABCA4):c.67-2A>G rs398123339
NM_000350.3(ABCA4):c.6729+5_6729+19del rs749526785
NM_000352.6(ABCC8):c.4412-13G>A rs1008906426
NM_000363.5(TNNI3):c.204del (p.Arg69fs) rs727504872
NM_000368.5(TSC1):c.350T>C (p.Leu117Pro) rs118203368
NM_000368.5(TSC1):c.737G>T (p.Arg246Met) rs118203436
NM_000371.4(TTR):c.379A>G (p.Ile127Val) rs121918089
NM_000372.5(TYR):c.816G>C (p.Trp272Cys) rs62645902
NM_000377.3(WAS):c.881T>C (p.Ile294Thr) rs387906717
NM_000390.4(CHM):c.116+1G>A rs786204761
NM_000390.4(CHM):c.1350-1G>A rs2148153587
NM_000435.3(NOTCH3):c.3091C>T (p.Arg1031Cys) rs1285584068
NM_000435.3(NOTCH3):c.3893G>T (p.Cys1298Phe) rs2046807248
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys) rs28933696
NM_000440.3(PDE6A):c.2332_2335del (p.Asp778fs) rs754012367
NM_000440.3(PDE6A):c.2377GAG[1] (p.Glu794del) rs767540194
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser) rs141252097
NM_000454.5(SOD1):c.217G>A (p.Gly73Ser) rs121912455
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000520.6(HEXA):c.749G>A (p.Gly250Asp) rs121907959
NM_000527.5(LDLR):c.1358+2T>A rs193922567
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000529.2(MC2R):c.767C>T (p.Ser256Phe) rs1256103643
NM_000530.8(MPZ):c.166G>A (p.Glu56Lys) rs1571820067
NM_000530.8(MPZ):c.233C>T (p.Ser78Leu) rs121913601
NM_000530.8(MPZ):c.356A>G (p.Tyr119Cys) rs879254038
NM_000530.8(MPZ):c.434A>G (p.Tyr145Cys) rs121913603
NM_000539.3(RHO):c.568G>T (p.Asp190Tyr) rs104893779
NM_000540.3(RYR1):c.7523G>A (p.Arg2508His) rs193922818
NM_000540.3(RYR1):c.8046_8064dup (p.Lys2689delinsLeuTer) rs1970341946
NM_000546.6(TP53):c.485T>G (p.Ile162Ser) rs587780069
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000827.4(GRIA1):c.1906G>A (p.Ala636Thr) rs587776937
NM_000834.5(GRIN2B):c.1556G>A (p.Arg519Gln) rs2497598118
NM_001003800.2(BICD2):c.2239C>T (p.Arg747Cys) rs1587667544
NM_001004334.4(GPR179):c.1818G>A (p.Trp606Ter) rs1268507778
NM_001004334.4(GPR179):c.984del (p.Ser329fs) rs770066665
NM_001005273.3(CHD3):c.4243C>T (p.Arg1415Cys) rs2545062256
NM_001007527.2(LMBRD2):c.1448G>A (p.Arg483His) rs2111857835
NM_001009944.3(PKD1):c.12448C>T (p.Arg4150Cys) rs1282668884
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
NM_001009944.3(PKD1):c.8932TTC[1] (p.Phe2979del) rs1358948221
NM_001029896.2(WDR45):c.766_794del (p.Asp257fs) rs1569523457
NM_001034853.2(RPGR):c.154G>A (p.Gly52Arg) rs281865296
NM_001034853.2(RPGR):c.2426_2427del (p.Glu809fs) rs730882261
NM_001034853.2(RPGR):c.2628_2629del (p.Glu877fs) rs2067166789
NM_001034853.2(RPGR):c.29-1G>T rs2067987832
NM_001034853.2(RPGR):c.2971del (p.Glu991fs) rs2067134254
NM_001040113.2(MYH11):c.5819del (p.Pro1940fs) rs747392139
NM_001040142.2(SCN2A):c.4976C>T (p.Ala1659Val) rs1060503101
NM_001042492.3(NF1):c.1013A>G (p.Asp338Gly) rs199474773
NM_001042492.3(NF1):c.1019_1020del (p.Ser340fs) rs1555610903
NM_001042492.3(NF1):c.1062G>A (p.Lys354=) rs1131691118
NM_001042492.3(NF1):c.1185+5G>C rs1597682182
NM_001042492.3(NF1):c.1260+1G>T rs267606603
NM_001042492.3(NF1):c.1722-3C>A rs770211384
NM_001042492.3(NF1):c.1748A>G (p.Lys583Arg) rs199474760
NM_001042492.3(NF1):c.2072T>C (p.Leu691Pro) rs1131691132
NM_001042492.3(NF1):c.2288T>C (p.Leu763Pro) rs199474762
NM_001042492.3(NF1):c.2325+3A>G rs1057517848
NM_001042492.3(NF1):c.2329T>A (p.Trp777Arg) rs876658853
NM_001042492.3(NF1):c.2339C>G (p.Thr780Arg) rs199474746
NM_001042492.3(NF1):c.2710T>A (p.Cys904Ser) rs2151429494
NM_001042492.3(NF1):c.2991-2A>G rs1555614495
NM_001042492.3(NF1):c.4903_4917del (p.Tyr1635_Tyr1639del) rs2069327013
NM_001042492.3(NF1):c.5030TCTATA[1] (p.Ile1679_Tyr1680del) rs1135402868
NM_001042492.3(NF1):c.6428-3C>G rs374014162
NM_001042492.3(NF1):c.6819+3A>G rs1555534966
NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1]) rs864622639
NM_001069.3(TUBB2A):c.533C>T (p.Thr178Met) rs886039447
NM_001079668.3(NKX2-1):c.664G>T (p.Glu222Ter) rs1555349209
NM_001083962.2(TCF4):c.1738C>T (p.Arg580Trp) rs121909120
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser) rs398122394
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001101.5(ACTB):c.209C>T (p.Pro70Leu) rs587779769
NM_001101.5(ACTB):c.589G>A (p.Gly197Ser) rs1554329317
NM_001101.5(ACTB):c.625G>A (p.Val209Met) rs587779777
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp) rs61748420
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_001111.5(ADAR):c.3286C>T (p.Arg1096Ter) rs769148365
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu) rs606231451
NM_001127222.2(CACNA1A):c.3692+1G>A rs1315533129
NM_001127222.2(CACNA1A):c.4034G>A (p.Arg1345Gln) rs121908230
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His) rs121908216
NM_001127222.2(CACNA1A):c.4997G>A (p.Arg1666Gln) rs1568447650
NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu) rs1064794261
NM_001127222.2(CACNA1A):c.5419G>A (p.Ala1807Thr) rs1555736565
NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys) rs1555773764
NM_001130438.3(SPTAN1):c.6241AAG[2] (p.Lys2083del) rs1858669268
NM_001130438.3(SPTAN1):c.6781C>T (p.Arg2261Ter) rs1859856446
NM_001130987.2(DYSF):c.2943C>T (p.Gly981=) rs886042637
NM_001134363.3(RBM20):c.1222dup (p.Leu408fs) rs1564844428
NM_001134673.4(NFIA):c.1051C>T (p.Arg351Ter) rs1422656895
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs) rs761238771
NM_001142800.2(EYS):c.7723+1G>A rs1770412895
NM_001163435.3(TBCK):c.1370dup (p.Asn457fs) rs746860249
NM_001163435.3(TBCK):c.2512C>T (p.Gln838Ter) rs1740799305
NM_001163435.3(TBCK):c.304C>T (p.Gln102Ter) rs1330115613
NM_001164760.2(PRKAR1B):c.1003C>T (p.Arg335Trp) rs1475000361
NM_001164760.2(PRKAR1B):c.586G>A (p.Glu196Lys) rs76344857
NM_001172509.2(SATB2):c.1756C>T (p.Gln586Ter) rs1559136245
NM_001177316.2(SLC34A3):c.1248_1249del (p.Leu417fs) rs757714479
NM_001182.5(ALDH7A1):c.494G>T (p.Gly165Val) rs375491094
NM_001194.4(HCN2):c.1120A>C (p.Met374Leu) rs1983378020
NM_001195553.2(DCX):c.176G>A (p.Arg59His) rs122457137
NM_001199198.3(TBC1D23):c.951_954del (p.Cys317fs) rs773150360
NM_001201543.2(FAM161A):c.1830del (p.Leu611fs) rs1292802544
NM_001244008.2(KIF1A):c.232G>A (p.Gly78Ser) rs1057518760
NM_001244008.2(KIF1A):c.647G>A (p.Arg216His) rs672601368
NM_001244008.2(KIF1A):c.760C>T (p.Arg254Trp) rs879253888
NM_001244008.2(KIF1A):c.761G>A (p.Arg254Gln) rs886041692
NM_001244008.2(KIF1A):c.773C>T (p.Thr258Met) rs1553638086
NM_001244008.2(KIF1A):c.821C>T (p.Ser274Leu) rs797045655
NM_001244008.2(KIF1A):c.914C>T (p.Pro305Leu) rs1131690804
NM_001244008.2(KIF1A):c.947G>A (p.Arg316Gln) rs749718096
NM_001257180.2(SLC20A2):c.1723G>A (p.Glu575Lys) rs387906653
NM_001258392.3(CLPB):c.1592G>A (p.Arg531Gln) rs1590753221
NM_001258392.3(CLPB):c.1610A>G (p.Tyr537Cys) rs150857620
NM_001267550.2(TTN):c.55351C>T (p.Arg18451Ter) rs1440093502
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter) rs886041116
NM_001286704.2(UFM1):c.-273_-271del rs747359907
NM_001298.3(CNGA3):c.1641C>A (p.Phe547Leu) rs104893617
NM_001303052.2(MYT1L):c.1573C>T (p.Arg525Cys) rs2149071722
NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp) rs864309503
NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp) rs267608493
NM_001347721.2(DYRK1A):c.638-9_638-5del rs1555984064
NM_001348323.3(TRIP12):c.4903C>T (p.Arg1635Ter) rs1574994308
NM_001348716.2(KDM6B):c.4431G>A (p.Trp1477Ter) rs2151379742
NM_001349338.3(FOXP1):c.1240_1241del (p.Leu414fs) rs1064793130
NM_001349338.3(FOXP1):c.1540C>T (p.Arg514Cys) rs869025203
NM_001349338.3(FOXP1):c.1574G>A (p.Arg525Gln) rs1553663084
NM_001353345.2(SETD1B):c.5842G>A (p.Glu1948Lys) rs2137594297
NM_001353921.2(ARHGEF9):c.331C>T (p.Arg111Trp) rs1556401730
NM_001356.5(DDX3X):c.1423C>T (p.Arg475Cys) rs1064794574
NM_001360.3(DHCR7):c.739G>A (p.Ala247Thr) rs767031102
NM_001371727.1(GABRB2):c.877C>T (p.Arg293Trp) rs1554093891
NM_001372.4(DNAH9):c.11195_11198del (p.Asp3732fs) rs1567880135
NM_001375380.1(EBF3):c.1210C>T (p.Arg404Ter) rs1564816319
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392
NM_001378477.3(NYX):c.632A>G (p.Asn211Ser) rs62637029
NM_001379291.1(BRD4):c.883A>C (p.Thr295Pro) rs1405614933
NM_001384474.1(LOXHD1):c.5974_5975del (p.Lys1991_Ser1992insTer) rs2033274775
NM_001384910.1(GUCA1A):c.250C>T (p.Leu84Phe) rs869320709
NM_001384910.1(GUCA1A):c.265G>A (p.Glu89Lys) rs1768015203
NM_001384910.1(GUCA1A):c.359G>T (p.Arg120Leu) rs1582323732
NM_001395891.1(CLASP1):c.196-570C>T rs750325275
NM_001540.5(HSPB1):c.250G>A (p.Gly84Arg) rs770272088
NM_001605.3(AARS1):c.997C>T (p.Arg333Ter) rs868097991
NM_001733.7(C1R):c.890G>A (p.Gly297Asp) rs1057519026
NM_001844.5(COL2A1):c.1546G>A (p.Gly516Ser) rs886041895
NM_001848.3(COL6A1):c.930+189C>T rs1556425596
NM_001904.4(CTNNB1):c.696dup (p.Lys233Ter) rs2125623360
NM_001943.5(DSG2):c.2349C>A (p.Tyr783Ter) rs1064793983
NM_001972.4(ELANE):c.170C>T (p.Ala57Val) rs1057520110
NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter) rs138726443
NM_002024.6(FMR1):c.104+3_104+6del rs2043190584
NM_002074.5(GNB1):c.347G>A (p.Gly116Asp) rs1646670079
NM_002294.3(LAMP2):c.864+3_864+6del rs397516751
NM_002294.3(LAMP2):c.929-2A>G rs1556092556
NM_002335.4(LRP5):c.4488+2T>G rs80358322
NM_002471.4(MYH6):c.5050C>T (p.Gln1684Ter) rs1849911056
NM_002739.5(PRKCG):c.347A>G (p.His116Arg) rs2068657131
NM_002816.5(PSMD12):c.430C>T (p.Arg144Ter) rs2041990527
NM_002834.5(PTPN11):c.1472C>A (p.Pro491His) rs397507540
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_003042.4(SLC6A1):c.889G>A (p.Gly297Arg) rs876657400
NM_003070.5(SMARCA2):c.3314G>C (p.Arg1105Pro) rs281875197
NM_003073.5(SMARCB1):c.1089G>T (p.Lys363Asn) rs1568963037
NM_003091.4(SNRPB):c.155+301G>C rs786201019
NM_003107.3(SOX4):c.182G>A (p.Arg61Gln) rs1763098947
NM_003119.4(SPG7):c.2161A>G (p.Asn721Asp) rs2152412388
NM_003136.4(SRP54):c.343ACA[2] (p.Thr117del) rs1555354198
NM_003322.6(TULP1):c.1471T>C (p.Phe491Leu) rs121909074
NM_003361.4(UMOD):c.707C>T (p.Pro236Leu) rs1447458978
NM_003482.4(KMT2D):c.14251+1G>C rs2120390748
NM_003482.4(KMT2D):c.15536G>A (p.Arg5179His) rs267607237
NM_003590.5(CUL3):c.883+1G>A rs1692819940
NM_003709.4(KLF7):c.790G>A (p.Asp264Asn) rs1057518995
NM_003849.4(SUCLG1):c.719T>G (p.Leu240Arg) rs2468618218
NM_003919.3(SGCE):c.549_552del (p.Phe183fs) rs1554352952
NM_003919.3(SGCE):c.835_839del (p.Thr279fs) rs863223283
NM_003924.4(PHOX2B):c.741_758dup (p.Ala255_Ala260dup) rs771383153
NM_004035.7(ACOX1):c.710A>G (p.Asn237Ser) rs1567876984
NM_004086.3(COCH):c.349T>C (p.Trp117Arg) rs121908929
NM_004181.5(UCHL1):c.349_364del (p.Phe117fs) rs1781070341
NM_004181.5(UCHL1):c.64dup (p.Val22fs) rs1781001592
NM_004183.4(BEST1):c.533ACA[1] (p.Asn179del) rs775979290
NM_004183.4(BEST1):c.665G>T (p.Gly222Val) rs281865241
NM_004183.4(BEST1):c.713A>G (p.Gln238Arg) rs1941503926
NM_004183.4(BEST1):c.728C>T (p.Ala243Val) rs28940570
NM_004183.4(BEST1):c.889C>T (p.Pro297Ser) rs1805143
NM_004187.5(KDM5C):c.2041C>T (p.Arg681Ter) rs370032584
NM_004187.5(KDM5C):c.3392_3393del (p.Glu1131fs) rs1602163752
NM_004380.3(CREBBP):c.5345C>T (p.Ala1782Val) rs2051858361
NM_004380.3(CREBBP):c.5837dup (p.Pro1947fs) rs587783507
NM_004415.4(DSP):c.1325C>T (p.Ser442Phe) rs1321159751
NM_004463.3(FGD1):c.1241C>T (p.Pro414Leu) rs1557189455
NM_004656.4(BAP1):c.275C>T (p.Ala92Val) rs2153228142
NM_004820.5(CYP7B1):c.1A>G (p.Met1Val) rs891749853
NM_004928.3(CFAP410):c.443_444del (p.Glu148fs) rs756970705
NM_004974.4(KCNA2):c.881G>A (p.Arg294His) rs886041761
NM_004984.4(KIF5A):c.484C>T (p.Arg162Trp) rs748551786
NM_004984.4(KIF5A):c.611G>A (p.Arg204Gln) rs387907287
NM_004984.4(KIF5A):c.838C>T (p.Arg280Cys) rs121434442
NM_004999.4(MYO6):c.2751dup (p.Gln918fs) rs551348450
NM_005188.4(CBL):c.1144A>G (p.Lys382Glu) rs267606705
NM_005249.5(FOXG1):c.256C>T (p.Gln86Ter) rs398124202
NM_005324.5(H3-3B):c.377A>G (p.Gln126Arg) rs2143629984
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413
NM_005422.4(TECTA):c.6016G>A (p.Asp2006Asn) rs2134215546
NM_005476.7(GNE):c.5A>G (p.Glu2Gly) rs1830025657
NM_005554.4(KRT6A):c.1385T>A (p.Ile462Asn) rs57629991
NM_005633.4(SOS1):c.1310T>C (p.Ile437Thr) rs397517150
NM_005654.6(NR2F1):c.257G>T (p.Cys86Phe) rs1554074665
NM_005670.4(EPM2A):c.85C>G (p.Leu29Val) rs2128649886
NM_005802.5(TOPORS):c.2558_2559insT (p.His855fs) rs1821069769
NM_005859.5(PURA):c.563T>C (p.Ile188Thr) rs793888527
NM_005859.5(PURA):c.691TTC[2] (p.Phe233del) rs786204835
NM_005862.3(STAG1):c.646A>G (p.Arg216Gly) rs1553738686
NM_005902.4(SMAD3):c.860G>A (p.Arg287Gln) rs730880214
NM_005984.5(SLC25A1):c.517_526del (p.Arg173fs) rs483352911
NM_005984.5(SLC25A1):c.520G>T (p.Glu174Ter) rs139862803
NM_006009.4(TUBA1A):c.1204C>T (p.Arg402Cys) rs587784483
NM_006009.4(TUBA1A):c.26T>C (p.Val9Ala) rs1565627795
NM_006009.4(TUBA1A):c.521C>T (p.Ala174Val) rs587784489
NM_006015.6(ARID1A):c.3230C>A (p.Ala1077Glu) rs1030084592
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs) rs543698823
NM_006060.6(IKZF1):c.448T>C (p.Cys150Arg) rs1812147849
NM_006086.4(TUBB3):c.1249G>A (p.Asp417Asn) rs267607164
NM_006086.4(TUBB3):c.785G>A (p.Arg262His) rs864321716
NM_006087.4(TUBB4A):c.286G>A (p.Gly96Arg) rs1131691696
NM_006087.4(TUBB4A):c.785G>A (p.Arg262His) rs886039470
NM_006088.6(TUBB4B):c.1171C>T (p.Arg391Cys) rs1554786802
NM_006218.4(PIK3CA):c.2816A>G (p.Asp939Gly) rs2108424902
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys) rs863225082
NM_006245.4(PPP2R5D):c.619T>C (p.Trp207Arg) rs869320691
NM_006269.2(RP1):c.2108del (p.Asn703fs) rs1806033536
NM_006269.2(RP1):c.2161del (p.Gly723fs) rs755429480
NM_006269.2(RP1):c.607G>A (p.Gly203Arg) rs786205589
NM_006306.4(SMC1A):c.2420G>A (p.Arg807His) rs1569356550
NM_006445.4(PRPF8):c.5804G>A (p.Arg1935His) rs1555550617
NM_006445.4(PRPF8):c.6334AAG[1] (p.Lys2113del) rs1911196248
NM_006445.4(PRPF8):c.6912C>G (p.Phe2304Leu) rs121434240
NM_006445.4(PRPF8):c.6970dup (p.Glu2324fs) rs1064797215
NM_006494.4(ERF):c.1201_1202del (p.Lys401fs) rs1064794325
NM_006516.4(SLC2A1):c.1402C>T (p.Arg468Trp) rs267607059
NM_006516.4(SLC2A1):c.940G>A (p.Gly314Ser) rs121909739
NM_006517.5(SLC16A2):c.979G>A (p.Gly327Arg) rs587784383
NM_006593.4(TBR1):c.1190+1G>A rs1684207130
NM_006612.6(KIF1C):c.305G>C (p.Gly102Ala) rs1974586605
NM_006734.4(HIVEP2):c.2827C>T (p.Arg943Ter) rs869312841
NM_006744.4(RBP4):c.176T>A (p.Ile59Asn) rs121918584
NM_006744.4(RBP4):c.278G>A (p.Gly93Asp) rs121918585
NM_006767.4(LZTR1):c.1149+1G>A rs767191322
NM_006767.4(LZTR1):c.1687G>C (p.Glu563Gln) rs1374240053
NM_006767.4(LZTR1):c.352dup (p.Arg118fs) rs1486960809
NM_006790.3(MYOT):c.164C>T (p.Ser55Phe) rs121908457
NM_006852.6(TLK2):c.2092C>T (p.Arg698Ter) rs1555669421
NM_006895.3(HNMT):c.623T>C (p.Leu208Pro) rs745756308
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr) rs869025191
NM_006912.6(RIT1):c.230C>G (p.Ala77Gly) rs1673399238
NM_006912.6(RIT1):c.244T>C (p.Phe82Leu) rs869025194
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_006915.3(RP2):c.11TCT[1] (p.Phe5del) rs1556313414
NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr) rs1057518801
NM_006946.4(SPTBN2):c.1310G>A (p.Arg437Gln) rs1554986337
NM_007055.4(POLR3A):c.1771-7C>G rs201314157
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter) rs371418985
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del) rs587782008
NM_007194.4(CHEK2):c.793-1G>A rs730881687
NM_007194.4(CHEK2):c.846+4_846+7del rs764884641
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter) rs80356978
NM_007294.4(BRCA1):c.3612del (p.Ala1206fs) rs80357980
NM_007294.4(BRCA1):c.4986+3G>C rs80358023
NM_007294.4(BRCA1):c.5193+1del rs397509236
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met) rs80357268
NM_007327.4(GRIN1):c.1979C>T (p.Pro660Leu) rs1328780843
NM_012193.4(FZD4):c.1474G>C (p.Gly492Arg) rs80358299
NM_012193.4(FZD4):c.1501_1502del (p.Leu501fs) rs80358303
NM_013254.4(TBK1):c.230CAA[2] (p.Thr79del) rs748007618
NM_013275.6(ANKRD11):c.7535G>A (p.Arg2512Gln) rs2033535934
NM_014014.5(SNRNP200):c.2041C>T (p.Arg681Cys) rs959069360
NM_014023.4(WDR37):c.356C>T (p.Ser119Phe) rs1589088690
NM_014053.4(FLVCR1):c.1317G>A (p.Met439Ile) rs1665113651
NM_014053.4(FLVCR1):c.1318_1321del (p.Thr440fs) rs1572027164
NM_014053.4(FLVCR1):c.755del (p.Gly252fs) rs773064101
NM_014168.4(METTL5):c.571_572del (p.Lys191fs) rs1573965358
NM_014271.4(IL1RAPL1):c.1460G>A (p.Trp487Ter) rs122461161
NM_014363.6(SACS):c.7162_7163del (p.Thr2388fs) rs1555251539
NM_014423.4(AFF4):c.772C>T (p.Arg258Trp) rs786205680
NM_014946.4(SPAST):c.1173+1G>A rs1060502226
NM_014946.4(SPAST):c.1173G>A (p.Leu391=) rs1679218212
NM_014946.4(SPAST):c.1196C>T (p.Ser399Leu) rs1553317025
NM_014946.4(SPAST):c.1206CTT[1] (p.Phe404del) rs1553317028
NM_014946.4(SPAST):c.1245+6T>G rs1553317050
NM_014946.4(SPAST):c.1378C>T (p.Arg460Cys) rs878854990
NM_014946.4(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_014946.4(SPAST):c.1785C>A (p.Ser595Arg) rs145206063
NM_015001.3(SPEN):c.5806C>T (p.Arg1936Ter) rs2071226510
NM_015021.3(ZNF292):c.4897A>T (p.Lys1633Ter) rs1775368255
NM_015166.4(MLC1):c.833A>G (p.Tyr278Cys) rs1569244190
NM_015178.3(RHOBTB2):c.1376A>G (p.Asp459Gly) rs1811011518
NM_015178.3(RHOBTB2):c.1465C>G (p.Arg489Gly) rs1554504681
NM_015267.4(CUX2):c.1768G>A (p.Glu590Lys) rs1565909334
NM_015338.6(ASXL1):c.3637_3640del (p.Leu1213fs) rs1555912648
NM_015346.4(ZFYVE26):c.1343_1344del (p.Leu448fs) rs1190463308
NM_015629.4(PRPF31):c.1126_1129dup (p.Arg377fs) rs2146445865
NM_015629.4(PRPF31):c.1146+2T>G rs2073971890
NM_015629.4(PRPF31):c.1462_1472del (p.Lys488fs) rs2146458114
NM_015629.4(PRPF31):c.239-2A>G rs1600334904
NM_015909.4(NBAS):c.2950del (p.Ile984fs) rs776797592
NM_015915.5(ATL1):c.1243C>T (p.Arg415Trp) rs119476050
NM_015915.5(ATL1):c.757G>A (p.Val253Ile) rs864622520
NM_015915.5(ATL1):c.776C>T (p.Ser259Phe) rs119476047
NM_016032.4(ZDHHC9):c.442C>T (p.Arg148Trp) rs137852214
NM_016077.5(PTRH2):c.269_270del (p.Ala90fs) rs786201017
NM_016628.5(WAC):c.1864C>T (p.Arg622Ter) rs774496658
NM_016648.4(LARP7):c.1091_1094del (p.Lys364fs) rs775657157
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs) rs398124308
NM_017635.5(KMT5B):c.2597_2598del (p.Ser866fs) rs888239971
NM_017739.4(POMGNT1):c.1832T>C (p.Leu611Pro) rs1352149832
NM_017780.4(CHD7):c.4015C>T (p.Arg1339Ter) rs1563644066
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del) rs768422260
NM_017934.7(PHIP):c.1507C>T (p.Arg503Ter) rs1411448554
NM_017934.7(PHIP):c.919_923del (p.Ile307fs) rs771126523
NM_017946.4(FKBP14):c.362dup (p.Glu122fs) rs542489955
NM_018052.5(VAC14):c.1744G>A (p.Ala582Thr) rs749094914
NM_018075.5(ANO10):c.1009T>G (p.Phe337Val) rs1227163239
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_018133.4(MSL2):c.694_697del (p.Ser232fs) rs1576352885
NM_018136.5(ASPM):c.1674T>A (p.Tyr558Ter) rs933106143
NM_018294.6(CWF19L1):c.467del (p.Pro156fs) rs879255654
NM_018418.5(SPATA7):c.3G>A (p.Met1Ile) rs200244203
NM_018426.3(TMEM63B):c.130G>A (p.Val44Met) rs1420636219
NM_018896.5(CACNA1G):c.5144G>A (p.Arg1715His) rs755221106
NM_019892.6(INPP5E):c.1073C>T (p.Pro358Leu) rs1835755632
NM_020699.4(GATAD2B):c.1198_1199del (p.Ser400fs) rs1674480467
NM_020706.2(SCAF4):c.1471C>T (p.Arg491Ter) rs2516760777
NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln) rs886043455
NM_020822.3(KCNT1):c.785G>A (p.Arg262Gln) rs1554771469
NM_020944.3(GBA2):c.1361_1362del (p.Glu454fs) rs1563960433
NM_021120.4(DLG3):c.2035C>T (p.Arg679Ter) rs1602991098
NM_021830.5(TWNK):c.1075G>A (p.Ala359Thr) rs111033573
NM_022124.6(CDH23):c.3839TGA[1] (p.Met1281del) rs796051860
NM_022575.4(VPS16):c.1939C>T (p.Arg647Ter) rs374914263
NM_022726.4(ELOVL4):c.698C>T (p.Thr233Met) rs1554162016
NM_024496.4(IRF2BPL):c.358C>T (p.Gln120Ter) rs1885174753
NM_024675.4(PALB2):c.211+1G>T rs1555462026
NM_024675.4(PALB2):c.3441T>A (p.Cys1147Ter) rs1555457867
NM_024685.4(BBS10):c.805dup (p.Ser269fs) rs1472533012
NM_024725.4(CCDC82):c.183del (p.Phe61fs) rs1866078752
NM_024757.5(EHMT1):c.2426C>T (p.Pro809Leu) rs587780332
NM_024884.3(L2HGDH):c.528G>T (p.Glu176Asp) rs2029895356
NM_025114.4(CEP290):c.4655AAG[2] (p.Glu1554del) rs757309583
NM_025114.4(CEP290):c.6448_6455del (p.Gln2150fs) rs1364945778
NM_025243.4(SLC19A3):c.597dup (p.His200fs) rs773140674
NM_030662.4(MAP2K2):c.181A>G (p.Lys61Glu) rs730880517
NM_030665.4(RAI1):c.2396dup (p.Gly800fs) rs2032191929
NM_031263.4(HNRNPK):c.253G>A (p.Glu85Lys) rs1554700678
NM_032043.3(BRIP1):c.1425_1429del (p.Leu475fs) rs768736851
NM_032436.4(CHAMP1):c.2127T>G (p.Tyr709Ter) rs1555379968
NM_032492.4(JAGN1):c.63G>T (p.Glu21Asp) rs587777729
NM_032856.5(WDR73):c.287G>A (p.Arg96Lys) rs797044995
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) rs794727197
NM_052867.4(NALCN):c.3542G>A (p.Arg1181Gln) rs786201003
NM_053274.3(GLMN):c.1470_1473del (p.Asn490fs) rs778651218
NM_058216.3(RAD51C):c.1026+5_1026+7del rs587781410
NM_130837.3(OPA1):c.1034G>A (p.Arg345Gln) rs121908375
NM_130837.3(OPA1):c.2873_2876del rs80356530
NM_130837.3(OPA1):c.2990_2993del (p.Val997fs) rs879255560
NM_130837.3(OPA1):c.2995G>T (p.Glu999Ter) rs2475490408
NM_138691.3(TMC1):c.1714G>A (p.Asp572Asn) rs121908072
NM_139137.4(KCNC2):c.1163T>C (p.Phe388Ser) rs2547844200
NM_145207.3(AFG2A):c.983CAA[2] (p.Thr330del) rs796052243
NM_145239.3(PRRT2):c.649dup (p.Arg217fs) rs587778771
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys) rs1064797245
NM_152464.3(VMA12):c.20C>A (p.Ala7Glu) rs369488804
NM_152490.5(B3GALNT2):c.824_825dup (p.Ile276fs) rs367543075
NM_152564.5(VPS13B):c.11044+1G>A rs2492279185
NM_152564.5(VPS13B):c.11141G>A (p.Trp3714Ter) rs386834060
NM_153676.4(USH1C):c.580-2A>T rs1850678559
NM_170675.5(MEIS2):c.992GAA[2] (p.Arg333del) rs879255264
NM_172107.4(KCNQ2):c.431G>A (p.Arg144Gln) rs796052618
NM_172107.4(KCNQ2):c.793G>A (p.Ala265Thr) rs794727740
NM_175914.5(HNF4A):c.944TGC[6] (p.Leu319dup) rs776489992
NM_177559.3(CSNK2A1):c.149A>G (p.Tyr50Cys) rs869312849
NM_177559.3(CSNK2A1):c.583C>T (p.Arg195Ter) rs1034583315
NM_182931.3(KMT2E):c.280del (p.Thr94fs) rs1584746915
NM_183357.3(ADCY5):c.1253G>A (p.Arg418Gln) rs864309515
NM_198253.3(TERT):c.2593C>T (p.Arg865Cys) rs372868296
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615
NM_201548.5(CERKL):c.237_238+13del rs746128841
NM_205861.3(DHDDS):c.110G>A (p.Arg37His) rs1553121073
NM_206926.2(SELENON):c.715G>A (p.Gly239Arg) rs2124448034
NM_206933.4(USH2A):c.10759C>T (p.Gln3587Ter) rs111033418
NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met) rs527236137
NM_206933.4(USH2A):c.3558del (p.Cys1186fs) rs397518014
NR_023343.3(RNU4ATAC):n.50G>A rs181195449
Single allele

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