ClinVar Miner

Variants from Revvity Omics, Revvity with conflicting interpretations

Location: United States  Primary collection method: clinical testing
Minimum review status of the submission from Revvity Omics, Revvity: Collection method of the submission from Revvity Omics, Revvity:
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
19159 10895 25 2521 3484 80 1328 6977

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
Revvity Omics, Revvity pathogenic likely pathogenic uncertain significance likely benign benign affects drug response likely risk allele pathogenic, low penetrance protective risk factor other
pathogenic 11 1107 195 8 10 6 23 0 3 0 13 5
likely pathogenic 1354 9 391 20 3 1 5 0 0 0 1 2
uncertain significance 330 522 5 3051 506 3 3 2 1 1 7 7
likely benign 2 0 176 0 52 0 0 0 0 0 0 0
benign 0 0 9 8 0 1 0 0 0 0 0 0

Submitter to submitter summary #

Total submitters: 337
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
Invitae 0 4551 0 675 1119 3 279 2076
GeneDx 0 4143 0 359 1463 0 196 2018
Ambry Genetics 0 1419 0 41 531 0 31 603
PreventionGenetics, part of Exact Sciences 0 1016 0 78 434 0 40 552
CeGaT Center for Human Genetics Tuebingen 0 1379 0 140 323 0 74 537
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1238 0 147 235 0 60 442
Eurofins Ntd Llc (ga) 0 3378 0 133 137 3 93 366
Baylor Genetics 0 1012 0 246 2 0 82 330
OMIM 0 679 0 190 3 41 85 318
Illumina Laboratory Services, Illumina 0 913 0 81 147 0 87 314
Counsyl 0 312 0 229 1 0 39 269
Athena Diagnostics Inc 0 1064 0 68 156 0 27 251
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 758 0 50 161 1 28 240
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 884 0 77 88 0 31 196
Fulgent Genetics, Fulgent Genetics 0 1140 0 137 23 0 23 183
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 408 0 41 89 0 15 145
Natera, Inc. 0 774 0 73 47 0 13 133
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 376 0 57 54 0 15 126
Genome-Nilou Lab 0 420 0 78 37 0 11 126
Mayo Clinic Laboratories, Mayo Clinic 0 955 0 53 32 0 40 125
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 157 0 57 3 0 43 103
Genetic Services Laboratory, University of Chicago 0 353 0 43 24 0 27 94
Mendelics 0 159 0 38 30 0 23 91
Quest Diagnostics Nichols Institute San Juan Capistrano 0 436 0 42 34 0 12 88
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 174 0 23 55 0 8 86
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 265 0 23 47 0 9 79
Clinical Genetics, Academic Medical Center 0 243 0 13 56 0 3 72
LDLR-LOVD, British Heart Foundation 0 45 0 56 3 0 8 67
All of Us Research Program, National Institutes of Health 0 389 0 12 22 0 26 60
3billion 0 169 0 42 0 0 9 51
Institute of Human Genetics, University of Leipzig Medical Center 0 122 0 31 2 0 14 47
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 163 0 28 2 0 15 45
Myriad Genetics, Inc. 0 156 0 34 1 0 9 44
Neuberg Centre For Genomic Medicine, NCGM 0 125 0 31 0 0 13 44
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 187 0 35 0 0 8 43
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 123 0 7 32 0 4 43
Robarts Research Institute, Western University 0 15 0 38 1 0 3 42
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 26 0 27 1 0 14 42
Color Diagnostics, LLC DBA Color Health 0 142 0 17 18 0 6 41
AiLife Diagnostics, AiLife Diagnostics 0 136 0 29 0 0 11 40
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 156 3 2 30 0 1 36
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 87 0 21 1 1 12 35
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 48 0 25 0 0 10 35
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 63 0 17 2 0 14 33
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino 0 11 0 9 1 1 22 33
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 55 0 27 2 0 3 32
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 66 0 24 0 0 7 31
Department of Pathology and Laboratory Medicine, Sinai Health System 0 149 0 9 9 0 13 31
MGZ Medical Genetics Center 0 89 0 20 0 0 8 28
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 8 17 0 0 3 28
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 60 0 16 1 0 11 28
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 61 0 18 5 0 4 27
PharmGKB 0 0 0 0 0 26 0 26
Fundacion Hipercolesterolemia Familiar 0 23 0 18 0 0 8 26
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 112 0 11 9 0 6 26
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 99 0 17 5 0 4 26
Clinical Genetics and Genomics, Karolinska University Hospital 0 127 0 23 0 0 2 25
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 93 0 12 8 0 5 25
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 101 0 14 3 0 7 24
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 107 0 18 0 0 5 23
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 27 0 19 0 0 3 22
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation 0 18 0 21 0 0 1 22
Genetics and Molecular Pathology, SA Pathology 0 76 0 15 1 0 6 22
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 57 0 4 10 2 6 22
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 7 0 10 1 0 10 21
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 123 0 9 8 0 4 21
Genomics England Pilot Project, Genomics England 0 20 0 20 0 0 1 21
Centogene AG - the Rare Disease Company 0 56 0 19 0 0 1 20
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 19 0 14 0 0 6 20
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge 0 23 0 16 0 0 4 20
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 30 0 13 0 0 7 20
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 94 0 13 0 0 7 20
GeneReviews 0 238 11 7 0 0 1 19
Iberoamerican FH Network 0 12 0 12 0 0 7 19
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen 0 37 0 5 6 0 7 18
NIHR Bioresource Rare Diseases, University of Cambridge 0 10 0 12 0 0 5 17
Undiagnosed Diseases Network, NIH 0 14 0 7 0 0 10 17
SIB Swiss Institute of Bioinformatics 0 15 0 13 0 0 4 17
DASA 0 53 0 14 0 0 3 17
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 45 0 15 0 0 1 16
Kariminejad - Najmabadi Pathology & Genetics Center 0 54 0 15 0 0 1 16
Leiden Open Variation Database 0 28 0 11 1 0 4 16
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 31 0 8 1 0 7 16
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova 0 29 0 8 0 0 8 16
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia 0 30 0 15 0 0 1 16
New York Genome Center 0 86 0 9 1 0 6 16
Dunham Lab, University of Washington 0 18 0 11 0 0 3 14
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 39 0 12 0 0 1 13
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 31 0 11 0 0 2 13
Blueprint Genetics 0 65 0 4 3 0 5 12
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 45 0 9 3 0 0 12
Gharavi Laboratory, Columbia University 0 15 0 4 2 0 6 12
CSER _CC_NCGL, University of Washington 0 21 0 3 4 0 4 11
Division of Human Genetics, Children's Hospital of Philadelphia 0 27 0 8 0 0 3 11
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 37 0 7 0 0 4 11
Johns Hopkins Genomics, Johns Hopkins University 0 36 0 6 4 0 1 11
Reproductive Health Research and Development, BGI Genomics 0 27 0 7 0 1 3 11
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 83 0 4 4 0 2 10
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 42 0 9 0 0 1 10
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 26 0 7 0 0 2 9
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 3 0 7 0 0 1 8
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 16 0 2 6 0 0 8
CFTR-France 0 1 0 3 0 0 5 8
Molecular Biology Laboratory, Fundació Puigvert 0 4 0 6 0 0 2 8
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel 0 43 0 6 0 0 2 8
ClinGen ACADVL Variant Curation Expert Panel, ClinGen 0 14 0 8 0 0 0 8
Clinical Biochemistry Laboratory, Health Services Laboratory 0 19 0 6 0 0 1 7
Sema4, Sema4 0 12 0 2 5 0 0 7
University of Washington Center for Mendelian Genomics, University of Washington 0 3 0 7 0 0 0 7
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 9 0 2 1 0 4 7
Lifecell International Pvt. Ltd 0 33 0 5 0 0 2 7
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II 0 12 0 7 0 0 0 7
Molecular Genetics, Royal Melbourne Hospital 0 31 0 6 1 0 0 7
Institute for Integrative and Experimental Genomics, University of Luebeck 0 0 0 4 0 0 2 6
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 5 0 5 0 0 1 6
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 6 0 3 0 0 3 6
ClinGen PAH Variant Curation Expert Panel 0 47 0 6 0 0 0 6
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 7 0 1 2 0 3 6
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 26 0 4 0 0 2 6
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 19 0 3 1 0 2 6
Institute of Human Genetics, University Hospital Muenster 0 27 0 5 0 0 1 6
Elsea Laboratory, Baylor College of Medicine 0 11 0 2 0 0 3 5
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 18 0 3 0 0 2 5
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 43 0 2 1 0 2 5
Albrecht-Kossel-Institute, Medical University Rostock 0 0 0 0 0 5 0 5
Hadassah Hebrew University Medical Center 0 5 0 4 0 0 1 5
SingHealth Duke-NUS Institute of Precision Medicine 0 4 0 2 1 0 2 5
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 46 0 2 1 0 2 5
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 22 0 4 0 0 1 5
Clinical Genomics Program, Stanford Medicine 0 11 0 5 0 0 0 5
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 14 0 2 0 0 3 5
Paris Brain Institute, Inserm - ICM 0 1 0 3 0 0 2 5
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine 0 3 0 1 0 0 4 5
European Hospital Georges Pompidou Genetics Department, Assistance Publique - Hôpitaux de Paris AP-HP 0 9 0 5 0 0 0 5
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 13 0 2 0 0 2 4
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 5 0 1 0 0 3 4
UCLA Clinical Genomics Center, UCLA 0 2 0 2 0 0 2 4
Yale Center for Mendelian Genomics, Yale University 0 4 0 2 0 0 2 4
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto 0 1 0 0 0 0 4 4
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen 0 3 0 1 1 0 2 4
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 16 0 1 1 0 1 3
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 18 0 2 0 0 1 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 4 0 2 0 0 1 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 29 0 1 2 0 0 3
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 11 0 1 0 0 2 3
Duke University Health System Sequencing Clinic, Duke University Health System 0 10 0 2 0 0 1 3
GeneKor MSA 0 26 0 3 0 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 4 0 3 0 0 0 3
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 0 0 1 0 0 2 3
Database of Curated Mutations (DoCM) 0 0 0 3 0 0 0 3
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 7 0 3 0 0 0 3
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 0 3 0 3 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 42 0 2 0 0 1 3
Molecular Medicine, University of Leeds 0 1 0 3 0 0 0 3
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 2 0 2 0 0 1 3
Ocular Genomics Institute, Massachusetts Eye and Ear 0 19 0 2 0 0 1 3
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 20 0 2 0 0 1 3
Department of Human Genetics, Laborarztpraxis Dres. Walther, Weindel und Kollegen 0 8 0 3 0 0 0 3
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 3 0 2 0 0 1 3
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 6 0 3 0 0 0 3
Suma Genomics 0 12 0 2 0 0 1 3
Laan Lab, Human Genetics Research Group, University of Tartu 0 6 0 3 0 0 0 3
Giacomini Lab, University of California, San Francisco 0 7 0 0 1 0 2 3
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 5 0 2 0 0 0 2
Molecular Genetics Laboratory, Institute for Ophthalmic Research 0 4 0 2 0 0 0 2
King Laboratory, University of Washington 0 2 0 0 1 0 1 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 10 0 1 0 0 1 2
Institute of Medical Molecular Genetics, University of Zurich 0 2 0 2 0 0 0 2
MVZ Dr. Eberhard & Partner Dortmund 0 0 0 1 0 0 1 2
Martin Pollak Laboratory, Beth Israel Deaconess Medical Center 0 0 2 0 0 0 0 2
Northcott Neuroscience Laboratory, ANZAC Research Institute 0 0 0 0 1 0 1 2
Centre for Human Genetics 0 2 0 2 0 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 6 0 1 0 0 1 2
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 0 0 1 0 0 1 2
Forensic Genetics Laboratory, Harris County Institute of Forensic Sciences 0 0 0 0 0 0 2 2
Cardiovascular Biomarker Research Laboratory, Mayo Clinic 0 1 0 1 1 0 0 2
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 3 0 1 0 0 1 2
Daryl Scott Lab, Baylor College of Medicine 0 23 0 1 1 0 0 2
Bruce Lefroy Centre, Murdoch Childrens Research Institute 0 1 0 1 0 0 1 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 5 0 2 0 0 0 2
Department of Laboratory Medicine and Genetics, Trillium Health Partners Credit Valley Hospital 0 1 0 2 0 0 0 2
Sharon lab, Hadassah-Hebrew University Medical Center 0 1 0 2 0 0 0 2
Institute for Genomic Medicine, Nationwide Children's Hospital 0 2 0 0 0 0 2 2
Inherited Neuropathy Consortium 0 0 0 0 0 0 2 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 7 0 2 0 0 0 2
Institute of Reproductive Genetics, University of Münster 0 4 0 0 0 0 2 2
University of Washington Department of Laboratory Medicine, University of Washington 0 3 0 0 0 0 2 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 4 0 1 0 0 1 2
deCODE genetics, Amgen 0 3 0 2 0 0 0 2
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 2 0 1 0 0 1 2
CZECANCA consortium 0 39 0 1 0 0 1 2
Section for Clinical Neurogenetics, University of Tübingen 0 4 0 2 0 0 0 2
The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder, Children's Hospital of Fudan University 0 0 0 0 0 0 2 2
Center of Excellence for Medical Genomics, Chulalongkorn University 0 0 0 1 0 0 1 2
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 1 0 1 0 0 1 2
Faculty of Health Sciences, Beirut Arab University 0 5 0 1 0 0 1 2
GenomeConnect - Simons Searchlight 0 6 0 1 0 0 1 2
APRT Deficiency Research Program of the Rare Kidney Stone Consortium, Landspitali, National University Hospital of Iceland 0 1 0 1 0 0 1 2
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University 0 0 0 1 0 0 1 2
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 1 0 1 0 0 1 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 11 0 1 0 0 1 2
Houlden Lab, UCL Institute of Neurology 0 0 0 0 0 0 2 2
Center for Rare Movement Disorders Innsbruck, Medical University Innsbruck 0 0 0 2 0 0 0 2
Human Genetics Bochum, Ruhr University Bochum 0 10 0 1 0 0 1 2
Eurofins-Biomnis 0 3 0 1 0 0 1 2
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 0 0 2 0 0 0 2
Arcensus 0 9 0 2 0 0 0 2
ClinGen Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel, ClinGen 0 8 0 2 0 0 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 17 0 2 0 0 0 2
Payam Genetics Center, General Welfare Department of North Khorasan Province 0 2 0 2 0 0 0 2
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 0 5 0 2 0 0 0 2
Cellular and Molecular Medicine Research Institute, Urmia University of Medical Sciences 0 4 0 1 0 0 1 2
Clingen Thrombosis Variant Curation Expert Panel, ClinGen 0 0 0 2 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 0 0 1 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 9 0 1 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 9 0 0 0 0 1 1
Hehr Laboratory, Center for Human Genetics Regensburg 0 0 0 0 0 0 1 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 0 2 0 1 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 7 0 1 0 0 0 1
Endocrinology Clinic, Seth G.S. Medical College 0 0 0 0 0 0 1 1
UniProtKB/Swiss-Prot 0 14 0 1 0 0 0 1
IIFP, CONICET-UNLP 0 1 0 1 0 0 0 1
Inserm U 954, Faculté de Médecine de Nancy 0 1 1 0 0 0 0 1
RettBASE 0 1 0 0 1 0 0 1
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 0 0 0 0 0 0 1 1
Center for Genetic Medicine Research, Children's National Medical Center 0 8 0 0 0 0 1 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 1 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 0 0 0 0 0 0 1 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 13 0 0 0 0 1 1
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 1 0 0 1 0 0 1
Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics 0 0 0 1 0 0 0 1
Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire 0 0 0 0 1 0 0 1
Center for Individualized Medicine, Mayo Clinic 0 0 0 1 0 0 0 1
Serv. Biochemistry and Molecular genetics, Hospital Clinic de Barcelona, Hospital Clínic de Barcelona 0 0 0 0 0 0 1 1
Dobyns Lab, Seattle Children's Research Institute 0 1 0 1 0 0 0 1
Neurogenetics of motion laboratory, Montreal Neurological Institute 0 1 0 1 0 0 0 1
Paul Sabatier University EA-4555, Paul Sabatier University 0 0 0 0 1 0 0 1
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 0 1 0 1 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 0 0 0 1 0 0 0 1
Garry R Cutting Laboratory, Johns Hopkins University 0 0 0 1 0 0 0 1
Gene Discovery Core-Manton Center, Boston Children's Hospital 0 0 0 1 0 0 0 1
Leeds Amelogenesis Imperfecta Research Group, University of Leeds 0 0 0 0 0 0 1 1
Hereditary Research Laboratory, Bethlehem University 0 1 0 1 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 4 0 1 0 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 0 4 0 0 0 0 1 1
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 0 0 0 0 1 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 12 0 1 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 0 2 0 0 0 0 1 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 11 0 1 0 0 0 1
Neurology Department, Peking University First Hospital 0 2 0 0 0 0 1 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 5 0 0 0 0 1 1
National Newborn Screening Laboratory, Hospital Nacional de Niños 0 3 0 1 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 0 2 0 1 0 0 0 1
Embryology Laboratory, Victor Chang Cardiac Research Institute 0 0 0 1 0 0 0 1
Applied Translational Genetics Group, University of Auckland 0 0 0 0 0 0 1 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 0 1 0 0 0 1
Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency 0 0 0 0 1 0 0 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 0 1 0 1 0 0 0 1
Snyder Lab, Genetics Department, Stanford University 0 1 0 1 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 1 0 1 0 0 0 1
Centre for Arab Genomic Studies, Sheikh Hamdan Award for Medical Sciences 0 1 0 1 0 0 0 1
Dan Cohn Lab, University Of California Los Angeles 0 4 0 1 0 0 0 1
Department of Endocrinology, Sir Run Run Shaw Hospital 0 0 0 0 0 0 1 1
Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades, CHU Paris - Hôpital Necker-Enfants Malades 0 1 0 1 0 0 0 1
Reproductive Development, Murdoch Childrens Research Institute 0 0 0 0 0 0 1 1
Department of Genetic, Henri Mondor Hospital, Assistance Publique des Hôpitaux de Paris 0 1 0 1 0 0 0 1
Variantyx, Inc. 0 3 0 1 0 0 0 1
Center for Precision Medicine, Vanderbilt University Medical Center 0 0 0 0 0 0 1 1
Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital 0 1 0 1 0 0 0 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 0 0 0 0 0 0 1 1
Felix Claverie-Martin Laboratory, Hospital Universitario Nuestra Senora de Candelaria 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 1 0 0 0 1
Genetics Laboratory, Department of Biology, Semnan University 0 2 0 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 1 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 0 3 0 0 0 0 1 1
Codex Genetics Limited 0 1 0 0 0 0 1 1
Palladino Lab, Pittsburgh Institute for Neurodegenerative Disease 0 0 0 0 0 0 1 1
Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University 0 0 0 1 0 0 0 1
Department of Ophthalmology, Fourth Military Medical University 0 0 0 1 0 0 0 1
Department of Pediatrics, Gifu University 0 3 0 1 0 0 0 1
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics 0 0 0 1 0 0 0 1
Genome Medicine, Institute for Basic Research in Developmental Disabilities 0 1 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
College of Medicine Research Centre, King Saud Univeristy 0 0 0 1 0 0 0 1
Department of Neurology, Guangzhou First People’s Hospital, School of Medicine, South China University of Technology 0 1 0 1 0 0 0 1
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles 0 2 0 0 0 0 1 1
PG23_Medical Genetics Lab, ASST Papa Giovanni XXIII 0 0 0 1 0 0 0 1
Wang Lab, Institute of Neuroscience, Xiamen university 0 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 4 0 0 0 0 1 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 0 0 1 1
Division of Medical Genetics, University of Washington 0 1 0 0 0 0 1 1
Mount Sinai Diagnostic Laboratory, Icahn School of Medicine at Mount Sinai 0 0 0 1 0 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 0 1 0 0 0 0 1 1
Molecular Diagnosis Center for Deafness 0 1 0 1 0 0 0 1
Platelet Disorders/Laboratory of Genetics and Genomics, Cincinnati Children's Hospital Medical Center, U Cincinnati College of Medicine 0 0 0 1 0 0 0 1
Robert's Program, Boston Children's Hospital 0 2 0 0 0 0 1 1
MAGI's Lab - Research, MAGI Group 0 0 0 1 0 0 0 1
Department of Laboratory Medicine, Yonsei University College of Medicine 0 0 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 0 1 0 0 0 1
Constitutional Genetics Lab, Leon Berard Cancer Center 0 18 0 1 0 0 0 1
Department of Pathophysiology and Transplantation, University of Milan 0 1 0 1 0 0 0 1
Pars Genome Lab 0 5 0 0 1 0 0 1
Molecular Genetics Lab, CHRU Brest 0 6 0 0 0 0 1 1
Sydney Genome Diagnostics, Children's Hospital Westmead 0 3 0 1 0 0 0 1
Genomic Medicine, Universita Cattolica del Sacro Cuore 0 0 0 0 0 0 1 1
Medical Genetics Lab, Xi'an People's Hospital(Xi'an Fourth Hospital) 0 0 0 1 0 0 0 1
Laboratory for Molecular Genetic Diagnostic of Neurological Diseases, University of Belgrade, School of Medicine 0 0 0 1 0 0 0 1
Pediatric Department, Xiangya Hospital, Central South University 0 2 0 0 0 0 1 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 4 0 0 0 0 1 1
CMT Laboratory, Bogazici University 0 0 0 1 0 0 0 1
ATS em Genética Clínica, Universidade Federal do Rio Grande do Sul 0 4 0 1 0 0 0 1
Pediatrics, All India Institute of Medical Sciences, New Delhi 0 0 0 0 0 1 0 1
Bioinformatics Unit, Institut Pasteur de Montevideo 0 1 0 1 0 0 0 1
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 0 1 0 0 0 0 1 1
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 0 6 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 8 0 1 0 0 0 1
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences 0 0 0 1 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 0 2 0 1 0 0 0 1
Molecular Endocrinology Laboratory, Christian Medical College 0 0 0 1 0 0 0 1
Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi 0 1 0 0 0 0 1 1
Molecular Lab, Department of Haematology, Christian Medical College 0 0 0 1 0 0 0 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 0 0 0 0 0 1 1
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences 0 3 0 0 0 0 1 1
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology 0 0 0 1 0 0 0 1
Pangenia Genomics, Pangenia Inc. 0 0 0 1 0 0 0 1
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 0 0 0 1 0 0 0 1
The Shared Resource Centre "Genome", Research Centre for Medical Genetics 0 0 0 1 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 1 0 0 0 0 1 1
St. Anna Children's Cancer Research Institute (CCRI) 0 0 0 1 0 0 0 1
Molecular Genetic Pathology Unit, University Of Rochester Medical Center 0 1 0 1 0 0 0 1
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 0 2 0 0 0 0 1 1
Cohesion Phenomics 0 0 0 0 0 0 1 1
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 5 0 1 0 0 0 1
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences 0 3 0 1 0 0 0 1
Genomics And Bioinformatics Analysis Resource, Columbia University 0 5 0 1 0 0 0 1
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital 0 13 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 6977
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003465.3(CHIT1):c.1049_1072dup (p.Trp358Ter) rs3831317 0.16576
NM_032790.4(ORAI1):c.121G>A (p.Gly41Arg) rs782650611 0.11673
NM_000140.5(FECH):c.315-48T>C rs2272783 0.06200
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln) rs61747728 0.02796
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile) rs34526199 0.02732
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=) rs1801248 0.02598
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser) rs11466023 0.01590
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln) rs11466024 0.01456
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) rs35719940 0.01370
NM_000237.3(LPL):c.953A>G (p.Asn318Ser) rs268 0.01327
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly) rs1799807 0.01259
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584 0.01206
NM_000552.5(VWF):c.4196G>A (p.Arg1399His) rs1800382 0.00907
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100 0.00625
NM_000492.4(CFTR):c.164+28A>G rs34010645 0.00589
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271 0.00561
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098 0.00519
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_000250.2(MPO):c.2031-2A>C rs35897051 0.00472
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_002863.5(PYGL):c.1900G>C (p.Asp634His) rs35026927 0.00435
NM_000492.4(CFTR):c.-226G>T rs73717525 0.00422
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln) rs188164241 0.00405
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_006432.5(NPC2):c.441+1G>A rs140130028 0.00399
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys) rs149694033 0.00397
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr) rs61730509 0.00389
NM_000036.3(AMPD1):c.930G>T (p.Met310Ile) rs61752478 0.00384
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_002693.3(POLG):c.803G>C (p.Gly268Ala) rs61752784 0.00364
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) rs28938473 0.00362
NM_213595.4(ISCU):c.10G>C (p.Ala4Pro) rs558084375 0.00362
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_024921.4(POF1B):c.986G>A (p.Arg329Gln) rs75398746 0.00354
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_025152.3(NUBPL):c.815-27T>C rs118161496 0.00348
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_000294.3(PHKG2):c.256G>A (p.Gly86Ser) rs143983247 0.00332
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_000243.3(MEFV):c.910G>A (p.Gly304Arg) rs75977701 0.00316
NM_014270.5(SLC7A9):c.978-17G>A rs45628833 0.00315
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490 0.00308
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677 0.00308
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682 0.00304
NM_001371596.2(MFSD8):c.1006G>C (p.Glu336Gln) rs150418024 0.00299
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00294
NM_000301.5(PLG):c.112A>G (p.Lys38Glu) rs73015965 0.00282
NM_016335.6(PRODH):c.1322T>C (p.Leu441Pro) rs2904551 0.00282
NM_000018.4(ACADVL):c.1066A>G (p.Ile356Val) rs150140386 0.00280
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp) rs141090143 0.00278
NM_001395413.1(POR):c.674C>T (p.Pro225Leu) rs17853284 0.00271
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695 0.00270
NM_000298.6(PKLR):c.829G>A (p.Glu277Lys) rs147689373 0.00269
NM_000271.5(NPC1):c.3343G>T (p.Val1115Phe) rs34226296 0.00268
NM_004252.5(NHERF1):c.458G>A (p.Arg153Gln) rs41282065 0.00267
NM_022132.5(MCCC2):c.1439A>G (p.Asn480Ser) rs115328026 0.00266
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys) rs6161 0.00262
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00257
NM_004473.4(FOXE1):c.743C>G (p.Ala248Gly) rs538912281 0.00247
NM_020964.3(EPG5):c.2998A>G (p.Met1000Val) rs144334723 0.00245
NM_021020.5(LZTS1):c.88C>A (p.His30Asn) rs145365423 0.00245
NM_002016.2(FLG):c.2476C>T (p.Arg826Ter) rs115746363 0.00243
NM_172351.3(CD46):c.926C>T (p.Pro309Leu) rs41317833 0.00241
NM_001321739.2(M1AP):c.676dup (p.Trp226fs) rs144217347 0.00238
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353 0.00238
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg) rs104893836 0.00234
NM_153603.4(COG7):c.1178A>G (p.His393Arg) rs116331296 0.00233
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751 0.00230
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927 0.00229
NM_001122764.3(PPOX):c.-246G>T rs114493458 0.00229
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
NM_001854.4(COL11A1):c.2556+92T>A rs550991929 0.00222
NM_001101426.4(CRPPA):c.79A>C (p.Thr27Pro) rs558064127 0.00220
NM_144773.4(PROKR2):c.518T>G (p.Leu173Arg) rs74315416 0.00220
NM_000642.3(AGL):c.2390A>G (p.Asn797Ser) rs149210307 0.00212
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_015967.8(PTPN22):c.1108C>A (p.His370Asn) rs72650671 0.00211
NM_000016.6(ACADM):c.127G>A (p.Glu43Lys) rs147559466 0.00210
NM_000036.3(AMPD1):c.1162C>T (p.Arg388Trp) rs35859650 0.00208
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln) rs61889560 0.00207
NM_000293.3(PHKB):c.518A>G (p.Asn173Ser) rs139738333 0.00205
NM_000017.4(ACADS):c.529T>C (p.Trp177Arg) rs57443665 0.00202
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007 0.00200
NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu) rs121909352 0.00200
NM_000153.4(GALC):c.525C>T (p.Val175=) rs181066089 0.00199
NM_020751.3(COG6):c.320A>T (p.Asp107Val) rs146229425 0.00196
NM_005529.7(HSPG2):c.9327C>T (p.His3109=) rs61743674 0.00195
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_005475.3(SH2B3):c.770T>C (p.Ile257Thr) rs147341899 0.00192
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg) rs117225135 0.00190
NM_005529.7(HSPG2):c.8044C>T (p.Arg2682Trp) rs142458572 0.00188
NM_000301.5(PLG):c.1259G>A (p.Gly420Asp) rs139071351 0.00184
NM_001369.3(DNAH5):c.3514C>A (p.Gln1172Lys) rs141168110 0.00184
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00181
NM_198586.3(NHLRC1):c.32C>A (p.Ala11Glu) rs139029314 0.00181
NM_001684.5(ATP2B4):c.2819A>G (p.Lys940Arg) rs138580420 0.00179
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00178
NM_152564.5(VPS13B):c.3866C>G (p.Thr1289Ser) rs145569846 0.00178
NM_000875.5(IGF1R):c.1532G>A (p.Arg511Gln) rs33958176 0.00176
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691 0.00175
NM_001126108.2(SLC12A3):c.1561A>G (p.Ile521Val) rs147046379 0.00175
NM_002591.4(PCK1):c.413C>T (p.Thr138Ile) rs28359542 0.00175
NM_000250.2(MPO):c.1705C>T (p.Arg569Trp) rs119468010 0.00173
NM_000426.4(LAMA2):c.2462C>T (p.Thr821Met) rs117422805 0.00173
NM_001382.4(DPAGT1):c.994T>G (p.Phe332Val) rs138544311 0.00172
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857 0.00171
NM_000433.4(NCF2):c.1081A>T (p.Thr361Ser) rs147744729 0.00169
NM_000553.6(WRN):c.1717A>G (p.Thr573Ala) rs150148567 0.00169
NM_016327.3(UPB1):c.917-1G>A rs143493067 0.00169
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr) rs114925667 0.00169
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_001206927.2(DNAH8):c.13823C>T (p.Thr4608Met) rs142438011 0.00168
NM_000290.4(PGAM2):c.233G>A (p.Trp78Ter) rs10250779 0.00166
NM_002693.3(POLG):c.1837C>T (p.His613Tyr) rs147407423 0.00166
NM_006659.4(TUBGCP2):c.997C>T (p.Arg333Cys) rs34832477 0.00166
NM_000426.4(LAMA2):c.7111T>G (p.Phe2371Val) rs150644209 0.00164
NM_000298.6(PKLR):c.814C>G (p.Leu272Val) rs147659527 0.00163
NM_000532.5(PCCB):c.774C>G (p.His258Gln) rs141615209 0.00163
NM_001371986.1(UNC80):c.1806G>C (p.Gln602His) rs200473652 0.00163
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_183065.4(TMEM107):c.*759C>T rs201787275 0.00162
NM_018238.4(AGK):c.29A>G (p.Asn10Ser) rs35269563 0.00161
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_005609.4(PYGM):c.1888G>A (p.Val630Met) rs115347245 0.00160
NM_005609.4(PYGM):c.1924C>T (p.Arg642Cys) rs116180923 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00159
NM_032782.5(HAVCR2):c.245A>G (p.Tyr82Cys) rs184868814 0.00159
NM_000519.4(HBD):c.82G>T (p.Ala28Ser) rs35152987 0.00158
NM_001164508.2(NEB):c.9181A>T (p.Met3061Leu) rs143473183 0.00158
NM_022042.4(SLC26A1):c.1906G>T (p.Asp636Tyr) rs146466185 0.00158
NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr) rs200865108 0.00157
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_015910.7(WDPCP):c.176T>A (p.Ile59Asn) rs202196322 0.00156
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro) rs76723693 0.00154
NM_001875.5(CPS1):c.1630A>T (p.Thr544Ser) rs144230667 0.00154
NM_152743.4(BRAT1):c.1828C>T (p.Arg610Trp) rs61753094 0.00152
NM_001199397.3(NEK1):c.924T>G (p.Ile308Met) rs10034957 0.00151
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616 0.00150
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259 0.00149
NM_153614.4(DNAJB13):c.757G>A (p.Asp253Asn) rs140556652 0.00149
NM_005076.5(CNTN2):c.1405C>A (p.Pro469Thr) rs147693556 0.00148
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_145725.3(TRAF3):c.352C>T (p.Arg118Trp) rs143813189 0.00147
NM_000532.5(PCCB):c.872G>A (p.Cys291Tyr) rs77820367 0.00146
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu) rs147231991 0.00146
NM_006379.5(SEMA3C):c.688C>T (p.Pro230Ser) rs138522639 0.00146
NM_007074.4(CORO1A):c.1189G>A (p.Val397Ile) rs35967690 0.00146
NM_001291303.3(FAT4):c.5275A>G (p.Ile1759Val) rs145639192 0.00145
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966 0.00145
NM_003060.4(SLC22A5):c.-149G>A rs57262206 0.00144
NM_001174150.2(ARL13B):c.1151G>A (p.Gly384Glu) rs146264035 0.00143
NM_020549.5(CHAT):c.1391G>A (p.Ser464Asn) rs148525631 0.00143
NM_000124.4(ERCC6):c.2096C>T (p.Thr699Met) rs55698015 0.00142
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_000043.6(FAS):c.580G>A (p.Glu194Lys) rs56006128 0.00138
NM_000213.5(ITGB4):c.3112-3C>T rs151033645 0.00138
NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys) rs28931570 0.00137
NM_001142864.4(PIEZO1):c.5963C>T (p.Ala1988Val) rs556192193 0.00137
NM_001458.5(FLNC):c.1698C>T (p.Ser566=) rs112194548 0.00137
NM_182961.4(SYNE1):c.20288C>T (p.Ser6763Leu) rs115534729 0.00137
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_001142864.4(PIEZO1):c.3793G>A (p.Asp1265Asn) rs570106950 0.00136
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00134
NM_000355.4(TCN2):c.523G>A (p.Val175Met) rs142791153 0.00134
NM_005883.3(APC2):c.4958G>A (p.Arg1653Gln) rs555371409 0.00134
NM_016219.5(MAN1B1):c.635T>G (p.Val212Gly) rs186504463 0.00134
NM_000406.3(GNRHR):c.785G>A (p.Arg262Gln) rs104893837 0.00132
NM_000082.4(ERCC8):c.655G>C (p.Ala219Pro) rs150727525 0.00131
NM_000553.6(WRN):c.2937T>G (p.Ile979Met) rs147802438 0.00131
NM_001041.4(SI):c.1730T>G (p.Val577Gly) rs121912615 0.00131
NM_001739.2(CA5A):c.788G>A (p.Arg263His) rs201195769 0.00131
NM_182914.3(SYNE2):c.1447G>A (p.Glu483Lys) rs200611311 0.00131
NM_012203.2(GRHPR):c.286C>T (p.Arg96Cys) rs78920863 0.00130
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys) rs140148105 0.00130
NM_001329943.3(KIAA0586):c.182T>C (p.Leu61Ser) rs183168709 0.00129
NM_147127.5(EVC2):c.1823G>A (p.Arg608His) rs145693546 0.00129
NM_152268.4(PARS2):c.1091C>G (p.Pro364Arg) rs35201073 0.00128
NM_000036.3(AMPD1):c.381+1G>C rs143303736 0.00125
NM_000540.3(RYR1):c.94C>T (p.Leu32Phe) rs138630815 0.00125
NM_001080483.3(MYMK):c.271C>A (p.Pro91Thr) rs137868995 0.00125
NM_000018.4(ACADVL):c.818G>C (p.Gly273Ala) rs150149784 0.00124
NM_000036.3(AMPD1):c.235C>T (p.Arg79Trp) rs61758863 0.00124
NM_004369.4(COL6A3):c.6751C>T (p.Arg2251Trp) rs116690555 0.00124
NM_021008.4(DEAF1):c.56T>C (p.Val19Ala) rs767318857 0.00124
NM_024301.5(FKRP):c.740C>A (p.Pro247Gln) rs528000488 0.00124
NM_000642.3(AGL):c.968G>A (p.Arg323Gln) rs139399527 0.00123
NM_015506.3(MMACHC):c.332G>A (p.Arg111Gln) rs200300254 0.00123
NM_213607.3(CCDC103):c.461A>C (p.His154Pro) rs145457535 0.00123
NM_005529.7(HSPG2):c.10280G>A (p.Arg3427Gln) rs142939330 0.00122
NM_001163809.2(WDR81):c.3532G>A (p.Ala1178Thr) rs151330612 0.00121
NM_001267550.2(TTN):c.76645G>A (p.Gly25549Ser) rs181166140 0.00121
NM_005502.4(ABCA1):c.254C>T (p.Pro85Leu) rs145183203 0.00121
NM_182914.3(SYNE2):c.18835G>A (p.Ala6279Thr) rs145871645 0.00121
NM_000048.4(ASL):c.35G>A (p.Arg12Gln) rs145138923 0.00120
NM_017739.4(POMGNT1):c.839G>A (p.Ser280Asn) rs142485035 0.00119
NM_005957.5(MTHFR):c.1556G>T (p.Arg519Leu) rs45449298 0.00118
NM_019616.4(F7):c.1025G>A (p.Arg342Gln) rs121964926 0.00118
NM_002470.4(MYH3):c.-9+1G>A rs557849165 0.00117
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00117
NM_025099.6(CTC1):c.1720C>T (p.Pro574Ser) rs200440641 0.00117
NM_025132.4(WDR19):c.2702A>G (p.Tyr901Cys) rs76326086 0.00117
NM_001041.4(SI):c.3972A>G (p.Pro1324=) rs142838806 0.00116
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411 0.00116
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg) rs142609245 0.00116
NM_003126.4(SPTA1):c.775G>A (p.Ala259Thr) rs187932146 0.00116
NM_000209.4(PDX1):c.725C>T (p.Pro242Leu) rs193922358 0.00115
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys) rs201213901 0.00115
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_207037.2(TCF12):c.1465A>G (p.Met489Val) rs149621019 0.00114
NM_000540.3(RYR1):c.9355C>T (p.Arg3119Cys) rs61739911 0.00113
NM_207122.2(EXT2):c.1178G>A (p.Arg393Gln) rs138187791 0.00113
NM_002796.3(PSMB4):c.-9G>A rs200946642 0.00112
NM_007254.4(PNKP):c.650C>G (p.Thr217Ser) rs115259839 0.00112
NM_000163.5(GHR):c.239G>T (p.Gly80Val) rs114025919 0.00111
NM_005732.4(RAD50):c.3253A>G (p.Ile1085Val) rs143189763 0.00111
NM_014384.3(ACAD8):c.1162G>A (p.Val388Met) rs139792723 0.00111
NM_000324.3(RHAG):c.199T>C (p.Phe67Leu) rs116356543 0.00110
NM_001360016.2(G6PD):c.1048G>C (p.Asp350His) rs34193178 0.00110
NM_004130.4(GYG1):c.304G>C (p.Asp102His) rs143137713 0.00109
NM_015512.5(DNAH1):c.9343C>T (p.Arg3115Trp) rs185397176 0.00109
NM_000492.4(CFTR):c.2620-26A>G rs201716473 0.00108
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys) rs147136339 0.00108
NM_001164508.2(NEB):c.10269G>A (p.Pro3423=) rs368719373 0.00108
NM_002180.3(IGHMBP2):c.2837G>A (p.Arg946Gln) rs149824485 0.00108
NM_003126.4(SPTA1):c.2600C>A (p.Ala867Glu) rs115877891 0.00108
NM_005529.7(HSPG2):c.149A>T (p.His50Leu) rs138518139 0.00108
NM_024753.5(TTC21B):c.2587C>T (p.Arg863Trp) rs34489989 0.00108
NM_198586.3(NHLRC1):c.46A>G (p.Met16Val) rs146636139 0.00108
NM_000228.3(LAMB3):c.1051G>A (p.Glu351Lys) rs114875539 0.00107
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val) rs146429605 0.00107
NM_201384.3(PLEC):c.3070G>A (p.Ala1024Thr) rs376665854 0.00107
NM_004393.6(DAG1):c.278T>C (p.Ile93Thr) rs149218670 0.00106
NM_005529.7(HSPG2):c.13018G>A (p.Val4340Met) rs145687082 0.00106
NM_022369.4(STRA6):c.826C>T (p.Arg276Cys) rs142089943 0.00106
NM_199242.3(UNC13D):c.2542A>C (p.Ile848Leu) rs144968313 0.00106
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) rs121434254 0.00105
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519 0.00105
NM_003126.4(SPTA1):c.373G>A (p.Ala125Thr) rs201771255 0.00105
NM_003793.4(CTSF):c.683C>G (p.Thr228Arg) rs148611356 0.00105
NM_199242.3(UNC13D):c.2983G>C (p.Ala995Pro) rs138760432 0.00105
NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala) rs113107803 0.00105
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser) rs147213895 0.00104
NM_015512.5(DNAH1):c.10438A>G (p.Ile3480Val) rs143443167 0.00104
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter) rs147021911 0.00104
NM_052845.4(MMAB):c.10T>C (p.Cys4Arg) rs146668962 0.00104
NM_000426.4(LAMA2):c.1814C>T (p.Thr605Ile) rs112388307 0.00103
NM_001267550.2(TTN):c.81247T>C (p.Ser27083Pro) rs186273940 0.00103
NM_001267550.2(TTN):c.94283G>A (p.Arg31428His) rs149375775 0.00103
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00103
NM_015512.5(DNAH1):c.1351A>G (p.Lys451Glu) rs76591348 0.00103
NM_017534.6(MYH2):c.2270T>C (p.Ile757Thr) rs117390537 0.00103
NM_018480.7(TMEM126B):c.635G>T (p.Gly212Val) rs141542003 0.00103
NM_022356.4(P3H1):c.1504G>C (p.Gly502Arg) rs139259804 0.00103
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_052859.4(RFT1):c.826+7T>C rs192264403 0.00103
NM_182914.3(SYNE2):c.7483G>A (p.Gly2495Arg) rs201036334 0.00103
NM_012414.4(RAB3GAP2):c.112C>T (p.Pro38Ser) rs138796052 0.00102
NM_014908.4(DOLK):c.700A>G (p.Met234Val) rs139787271 0.00102
NM_022437.3(ABCG8):c.1083G>A (p.Trp361Ter) rs137852987 0.00102
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027 0.00101
NM_000152.5(GAA):c.726G>A (p.Ala242=) rs148578399 0.00101
NM_000231.3(SGCG):c.539A>T (p.Glu180Val) rs114160429 0.00101
NM_001018116.2(CAVIN4):c.243T>G (p.Asn81Lys) rs149165620 0.00101
NM_004239.4(TRIP11):c.4069C>A (p.Gln1357Lys) rs144829001 0.00101
NM_005529.7(HSPG2):c.745G>A (p.Val249Met) rs148066529 0.00101
NM_014141.6(CNTNAP2):c.73G>A (p.Ala25Thr) rs200866893 0.00101
NM_025132.4(WDR19):c.2386G>A (p.Ala796Thr) rs187332731 0.00101
NM_182961.4(SYNE1):c.14452T>A (p.Tyr4818Asn) rs142422990 0.00101
NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro) rs147998933 0.00101
NM_017613.4(DONSON):c.1411G>A (p.Glu471Lys) rs140592434 0.00100
NM_139057.4(ADAMTS17):c.3044C>T (p.Ser1015Leu) rs143891379 0.00100
NM_198253.3(TERT):c.572G>C (p.Ser191Thr) rs11952056 0.00100
NM_003849.4(SUCLG1):c.236G>A (p.Gly79Asp) rs143030960 0.00099
NM_005236.3(ERCC4):c.1563C>G (p.Ser521Arg) rs41552412 0.00099
NM_016038.4(SBDS):c.184A>T (p.Lys62Ter) rs120074160 0.00099
NM_000789.4(ACE):c.1979C>G (p.Ser660Cys) rs147429960 0.00098
NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln) rs144884147 0.00098
NM_003126.4(SPTA1):c.3357G>C (p.Lys1119Asn) rs200230894 0.00098
NM_177924.5(ASAH1):c.629T>C (p.Met210Thr) rs141068211 0.00098
NM_213599.3(ANO5):c.692G>T (p.Gly231Val) rs137854523 0.00098
NM_201384.3(PLEC):c.1969A>T (p.Ser657Cys) rs199843296 0.00097
NM_000036.3(AMPD1):c.468G>T (p.Gln156His) rs139582106 0.00096
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_006348.5(COG5):c.298C>T (p.Leu100Phe) rs150351852 0.00096
NM_014141.6(CNTNAP2):c.2609T>C (p.Val870Ala) rs138481453 0.00096
NM_032578.4(MYPN):c.65C>G (p.Ala22Gly) rs145142157 0.00096
NM_173689.7(CRB2):c.737G>A (p.Arg246His) rs150339335 0.00096
NM_001371986.1(UNC80):c.9760C>A (p.Gln3254Lys) rs189916631 0.00095
NM_001384479.1(AGT):c.704T>G (p.Leu235Arg) rs5041 0.00095
NM_016653.3(MAP3K20):c.1640A>T (p.Gln547Leu) rs188158548 0.00095
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690 0.00094
NM_012414.4(RAB3GAP2):c.3842A>G (p.Tyr1281Cys) rs34081806 0.00094
NM_016616.5(NME8):c.610A>G (p.Ile204Val) rs146777129 0.00094
NM_024079.5(ALG8):c.251A>G (p.Tyr84Cys) rs61995921 0.00094
NM_000036.3(AMPD1):c.512G>A (p.Gly171Asp) rs142582318 0.00093
NM_001360.3(DHCR7):c.199G>A (p.Ala67Thr) rs143999854 0.00093
NM_001384732.1(CPLANE1):c.7408A>G (p.Arg2470Gly) rs144391535 0.00093
NM_001927.4(DES):c.935A>C (p.Asp312Ala) rs148947510 0.00093
NM_005529.7(HSPG2):c.10512C>T (p.His3504=) rs55875654 0.00093
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu) rs121909551 0.00092
NM_001291303.3(FAT4):c.11619C>T (p.Cys3873=) rs141328606 0.00092
NM_003126.4(SPTA1):c.4591G>C (p.Ala1531Pro) rs143779235 0.00092
NM_014049.5(ACAD9):c.453+8A>G rs199919500 0.00092
NM_000083.3(CLCN1):c.2834G>T (p.Gly945Val) rs139659129 0.00091
NM_000277.3(PAH):c.158G>A (p.Arg53His) rs118092776 0.00091
NM_000310.4(PPT1):c.904A>G (p.Ile302Val) rs146902902 0.00091
NM_000426.4(LAMA2):c.9211+6T>C rs201375881 0.00091
NM_001142864.4(PIEZO1):c.94C>A (p.Leu32Met) rs370663645 0.00091
NM_003126.4(SPTA1):c.4694T>A (p.Leu1565Gln) rs202217097 0.00091
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys) rs142885240 0.00091
NM_005138.3(SCO2):c.16_17insAGCATGCAGCAGTGACTCA (p.Arg6fs) rs749838192 0.00091
NM_005257.6(GATA6):c.1375G>A (p.Ala459Thr) rs151176879 0.00091
NM_022124.6(CDH23):c.2830A>G (p.Ser944Gly) rs188098974 0.00091
NM_170707.4(LMNA):c.640-52C>T rs41314033 0.00091
NM_000426.4(LAMA2):c.5021G>A (p.Arg1674Lys) rs143333246 0.00090
NM_080911.3(UNG):c.262C>T (p.Arg88Cys) rs151095402 0.00090
NM_213599.3(ANO5):c.2141C>G (p.Thr714Ser) rs200631556 0.00090
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys) rs201680145 0.00089
NM_000751.3(CHRND):c.919C>T (p.Pro307Ser) rs142063328 0.00089
NM_003748.4(ALDH4A1):c.1261T>C (p.Cys421Arg) rs149414160 0.00089
NM_201384.3(PLEC):c.3434C>T (p.Thr1145Met) rs200672373 0.00089
NM_201384.3(PLEC):c.3731T>G (p.Val1244Gly) rs187648086 0.00089
NM_000391.4(TPP1):c.260A>G (p.Asp87Gly) rs148064565 0.00088
NM_001267550.2(TTN):c.83299C>A (p.Pro27767Thr) rs184643087 0.00088
NM_001374353.1(GLI2):c.607G>A (p.Ala203Thr) rs147044066 0.00088
NM_004539.4(NARS1):c.1067A>C (p.Asp356Ala) rs138016359 0.00088
NM_005529.7(HSPG2):c.12580G>A (p.Gly4194Arg) rs144496753 0.00088
NM_020937.4(FANCM):c.5791C>T (p.Arg1931Ter) rs144567652 0.00088
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp) rs142572218 0.00088
NM_152743.4(BRAT1):c.1792C>T (p.His598Tyr) rs201523118 0.00088
NM_000426.4(LAMA2):c.6708-3A>C rs112637707 0.00087
NM_001849.4(COL6A2):c.568G>A (p.Val190Met) rs150877061 0.00087
NM_004183.4(BEST1):c.1571T>C (p.Met524Thr) rs145209035 0.00086
NM_005529.7(HSPG2):c.2335C>T (p.His779Tyr) rs149094407 0.00086
NM_014141.6(CNTNAP2):c.2369G>A (p.Arg790His) rs73464271 0.00086
NM_020549.5(CHAT):c.665G>C (p.Arg222Pro) rs8178989 0.00086
NM_024301.5(FKRP):c.1154C>T (p.Ser385Leu) rs104894680 0.00086
NM_183050.4(BCKDHB):c.633G>C (p.Lys211Asn) rs143427811 0.00086
NM_004963.4(GUCY2C):c.893C>T (p.Thr298Met) rs148946391 0.00085
NM_000295.5(SERPINA1):c.976G>A (p.Val326Ile) rs139964603 0.00084
NM_000782.5(CYP24A1):c.1226T>C (p.Leu409Ser) rs6068812 0.00084
NM_005529.7(HSPG2):c.10917C>T (p.Tyr3639=) rs111558823 0.00084
NM_182914.3(SYNE2):c.3767G>A (p.Arg1256His) rs183356628 0.00084
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243 0.00083
NM_000733.4(CD3E):c.470C>T (p.Ala157Val) rs140639753 0.00083
NM_001081.4(CUBN):c.6821+2T>C rs150901286 0.00083
NM_001849.4(COL6A2):c.2170C>T (p.Arg724Cys) rs150098077 0.00083
NM_001927.4(DES):c.785A>T (p.Glu262Val) rs147327878 0.00083
NM_002206.3(ITGA7):c.1606C>T (p.Leu536Phe) rs149028067 0.00083
NM_002334.4(LRP4):c.257G>A (p.Arg86His) rs138239756 0.00083
NM_006502.3(POLH):c.698A>G (p.Asn233Ser) rs61756403 0.00083
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser) rs142269885 0.00083
NM_024678.6(NARS2):c.1042C>T (p.Arg348Trp) rs149061222 0.00083
NM_020549.5(CHAT):c.1069G>A (p.Gly357Arg) rs61731735 0.00082
NM_182961.4(SYNE1):c.24881A>G (p.Asp8294Gly) rs138407813 0.00082
NM_000254.3(MTR):c.1862A>G (p.Asp621Gly) rs61736440 0.00081
NM_001377299.1(NDUFS2):c.959T>C (p.Val320Ala) rs144937332 0.00081
NM_002206.3(ITGA7):c.2651A>T (p.Glu884Val) rs149963176 0.00081
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
NM_018161.5(NADSYN1):c.1717G>A (p.Ala573Thr) rs144139747 0.00081
NM_152393.4(KLHL40):c.1273G>A (p.Gly425Ser) rs138791086 0.00081
NM_199242.3(UNC13D):c.610A>G (p.Met204Val) rs144722609 0.00081
NM_000203.5(IDUA):c.701G>C (p.Ser234Thr) rs201826605 0.00080
NM_000540.3(RYR1):c.14257G>A (p.Ala4753Thr) rs138156449 0.00080
NM_001378615.1(CC2D2A):c.1956G>A (p.Pro652=) rs375131519 0.00080
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414 0.00080
NM_006397.3(RNASEH2A):c.758T>C (p.Ile253Thr) rs145662304 0.00080
NM_198271.5(LMOD3):c.247C>T (p.Arg83Cys) rs200367429 0.00080
NM_201384.3(PLEC):c.2478C>T (p.Asp826=) rs202135215 0.00080
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val) rs35818432 0.00080
NM_000782.5(CYP24A1):c.1186C>T (p.Arg396Trp) rs114368325 0.00079
NM_005529.7(HSPG2):c.13145C>A (p.Ala4382Asp) rs116316900 0.00079
NM_033163.5(FGF8):c.77C>T (p.Pro26Leu) rs137852660 0.00079
NM_000289.6(PFKM):c.41T>C (p.Ile14Thr) rs140473672 0.00078
NM_000433.4(NCF2):c.938C>T (p.Pro313Leu) rs137937390 0.00078
NM_001164508.2(NEB):c.19219G>A (p.Glu6407Lys) rs144539316 0.00078
NM_005529.7(HSPG2):c.5648C>T (p.Ala1883Val) rs140954748 0.00078
NM_152743.4(BRAT1):c.1507C>T (p.Pro503Ser) rs147745609 0.00078
NM_170707.4(LMNA):c.1804G>A (p.Gly602Ser) rs60662302 0.00078
NM_000089.4(COL1A2):c.2123G>A (p.Arg708Gln) rs72658163 0.00077
NM_000157.4(GBA1):c.1483G>C (p.Ala495Pro) rs368060 0.00077
NM_000369.5(TSHR):c.1783G>A (p.Val595Ile) rs142632518 0.00077
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00077
NM_001927.4(DES):c.170C>T (p.Ser57Leu) rs372825868 0.00077
NM_002454.3(MTRR):c.446C>T (p.Ala149Val) rs142714881 0.00077
NM_003924.4(PHOX2B):c.832G>A (p.Gly278Ser) rs138545772 0.00077
NM_004369.4(COL6A3):c.4117G>A (p.Ala1373Thr) rs112181324 0.00077
NM_005609.4(PYGM):c.1787A>G (p.Asn596Ser) rs150622626 0.00077
NM_006767.4(LZTR1):c.1904C>T (p.Pro635Leu) rs148677674 0.00077
NM_080680.3(COL11A2):c.4652G>A (p.Arg1551Gln) rs145343609 0.00077
NM_152564.5(VPS13B):c.9094G>T (p.Asp3032Tyr) rs140095832 0.00077
NM_000174.5(GP9):c.182A>G (p.Asn61Ser) rs5030764 0.00076
NM_001080.3(ALDH5A1):c.293C>G (p.Ala98Gly) rs535825137 0.00076
NM_001267550.2(TTN):c.58226G>A (p.Arg19409His) rs201505306 0.00076
NM_001848.3(COL6A1):c.2968A>C (p.Lys990Gln) rs141663473 0.00076
NM_003737.4(DCHS1):c.590C>T (p.Pro197Leu) rs145099391 0.00076
NM_182914.3(SYNE2):c.13424T>C (p.Val4475Ala) rs146977539 0.00076
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531 0.00075
NM_000235.4(LIPA):c.894G>A (p.Gln298=) rs116928232 0.00075
NM_001360.3(DHCR7):c.1018G>A (p.Val340Ile) rs148081697 0.00075
NM_003122.5(SPINK1):c.-147A>G rs779832256 0.00075
NM_005529.7(HSPG2):c.4568G>A (p.Arg1523His) rs147633715 0.00075
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met) rs138480247 0.00075
NM_000426.4(LAMA2):c.7869A>G (p.Glu2623=) rs140658201 0.00074
NM_000540.3(RYR1):c.2545G>A (p.Asp849Asn) rs200893443 0.00074
NM_000719.7(CACNA1C):c.6272A>G (p.Asn2091Ser) rs201090446 0.00074
NM_001267550.2(TTN):c.53055G>A (p.Met17685Ile) rs200387466 0.00074
NM_004453.4(ETFDH):c.1049G>A (p.Arg350Gln) rs139306043 0.00074
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678 0.00074
NM_000016.6(ACADM):c.199T>C (p.Tyr67His) rs121434280 0.00073
NM_000070.3(CAPN3):c.2257G>A (p.Asp753Asn) rs146923842 0.00073
NM_000254.3(MTR):c.1141G>A (p.Ala381Thr) rs144777709 0.00073
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His) rs137932199 0.00073
NM_001127178.3(PIGG):c.1515G>A (p.Trp505Ter) rs150259543 0.00073
NM_001128840.3(CACNA1D):c.5017G>A (p.Glu1673Lys) rs147973409 0.00073
NM_001267550.2(TTN):c.21002A>G (p.Lys7001Arg) rs200594798 0.00073
NM_022464.5(SIL1):c.1039G>A (p.Glu347Lys) rs73265454 0.00073
NM_152383.5(DIS3L2):c.1447C>G (p.Arg483Gly) rs186865544 0.00073
NM_152383.5(DIS3L2):c.263C>T (p.Pro88Leu) rs202059499 0.00073
NM_152564.5(VPS13B):c.3656C>G (p.Ser1219Cys) rs149478021 0.00073
NM_182914.3(SYNE2):c.17033C>T (p.Thr5678Met) rs147365925 0.00073
NM_201384.3(PLEC):c.2642C>T (p.Thr881Met) rs200611519 0.00073
NM_201384.3(PLEC):c.4351G>A (p.Glu1451Lys) rs868906137 0.00073
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00072
NM_001369268.1(ACAN):c.2024G>A (p.Arg675Gln) rs35102652 0.00072
NM_004369.4(COL6A3):c.7849G>A (p.Asp2617Asn) rs138285547 0.00072
NM_021942.6(TRAPPC11):c.282A>C (p.Pro94=) rs148105529 0.00072
NM_000426.4(LAMA2):c.1400A>G (p.Lys467Arg) rs138162760 0.00071
NM_001130987.2(DYSF):c.5266C>T (p.Arg1756Trp) rs148541407 0.00071
NM_001164508.2(NEB):c.3989A>G (p.Tyr1330Cys) rs189553632 0.00071
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys) rs150487794 0.00071
NM_003235.5(TG):c.229G>A (p.Gly77Ser) rs142698837 0.00071
NM_014822.4(SEC24D):c.2135A>C (p.Asn712Thr) rs146773641 0.00071
NM_023936.2(MRPS34):c.94C>T (p.Gln32Ter) rs763672163 0.00071
NM_000036.3(AMPD1):c.1721G>A (p.Gly574Glu) rs150645738 0.00070
NM_000334.4(SCN4A):c.4508A>G (p.Asn1503Ser) rs114900922 0.00070
NM_004990.4(MARS1):c.2671C>T (p.Pro891Ser) rs35843015 0.00070
NM_176869.3(PPA2):c.514G>A (p.Glu172Lys) rs146013446 0.00070
NM_182914.3(SYNE2):c.12293C>A (p.Ala4098Asp) rs142169651 0.00070
NM_000079.4(CHRNA1):c.224G>A (p.Arg75His) rs147488907 0.00069
NM_000334.4(SCN4A):c.1576G>A (p.Gly526Arg) rs181292216 0.00069
NM_001267550.2(TTN):c.79226G>A (p.Arg26409His) rs72648206 0.00069
NM_001278293.3(ARL6):c.442T>G (p.Cys148Gly) rs148745414 0.00069
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter) rs201587138 0.00069
NM_004320.6(ATP2A1):c.733G>A (p.Asp245Asn) rs150721350 0.00069
NM_024334.3(TMEM43):c.424G>A (p.Glu142Lys) rs145619906 0.00069
NM_001142864.4(PIEZO1):c.1591C>T (p.Arg531Cys) rs146505418 0.00068
NM_001845.6(COL4A1):c.2542C>G (p.Gln848Glu) rs144207910 0.00068
NM_003126.4(SPTA1):c.4862T>A (p.Phe1621Tyr) rs374298000 0.00068
NM_005957.5(MTHFR):c.667G>A (p.Asp223Asn) rs150847674 0.00068
NM_006642.5(SDCCAG8):c.1474-6C>T rs376414138 0.00068
NM_020166.5(MCCC1):c.1337C>T (p.Ala446Val) rs144182725 0.00068
NM_031372.4(HNRNPDL):c.113T>C (p.Leu38Pro) rs373042980 0.00068
NM_152564.5(VPS13B):c.1559A>G (p.His520Arg) rs143205296 0.00068
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529 0.00067
NM_000098.3(CPT2):c.1634A>C (p.Glu545Ala) rs17848485 0.00067
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_025114.4(CEP290):c.4031T>C (p.Val1344Ala) rs369227219 0.00067
NM_182961.4(SYNE1):c.15907C>T (p.Arg5303Trp) rs149215868 0.00067
NM_000154.2(GALK1):c.746C>T (p.Ala249Val) rs149825190 0.00066
NM_000426.4(LAMA2):c.6268+5G>C rs182064878 0.00066
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser) rs139203363 0.00066
NM_003126.4(SPTA1):c.3389A>G (p.Asn1130Ser) rs202016242 0.00066
NM_004369.4(COL6A3):c.3902G>A (p.Arg1301Gln) rs148038440 0.00066
NM_005476.7(GNE):c.1267A>G (p.Ile423Val) rs35638832 0.00066
NM_005529.7(HSPG2):c.6295G>A (p.Gly2099Ser) rs113695182 0.00066
NM_005529.7(HSPG2):c.7235G>A (p.Ser2412Asn) rs146309392 0.00066
NM_005529.7(HSPG2):c.9564G>C (p.Gln3188His) rs149644947 0.00066
NM_014244.5(ADAMTS2):c.1883G>A (p.Arg628His) rs140621260 0.00066
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn) rs138874610 0.00065
NM_001006658.3(CR2):c.2298G>A (p.Trp766Ter) rs151093663 0.00065
NM_001164508.2(NEB):c.217C>T (p.Arg73Trp) rs77994592 0.00065
NM_001267550.2(TTN):c.55374C>G (p.Ser18458Arg) rs200550947 0.00065
NM_013339.4(ALG6):c.257+5G>A rs199682486 0.00065
NM_013382.7(POMT2):c.649G>A (p.Ala217Thr) rs144748043 0.00065
NM_000334.4(SCN4A):c.3774+8G>A rs374806849 0.00064
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415 0.00064
NM_001077525.3(MTMR14):c.780T>A (p.Asp260Glu) rs142525507 0.00064
NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter) rs143994166 0.00064
NM_001267550.2(TTN):c.50758C>G (p.Pro16920Ala) rs377289817 0.00064
NM_001267550.2(TTN):c.59316G>A (p.Pro19772=) rs377180286 0.00064
NM_001267550.2(TTN):c.74596A>G (p.Thr24866Ala) rs199784966 0.00064
NM_001267550.2(TTN):c.78896T>A (p.Val26299Asp) rs73036377 0.00064
NM_001330078.2(NRXN1):c.2533C>T (p.His845Tyr) rs199784139 0.00064
NM_002772.3(TMPRSS15):c.2135C>G (p.Ser712Ter) rs77200626 0.00064
NM_004006.3(DMD):c.3326A>T (p.Asn1109Ile) rs200596739 0.00064
NM_018127.7(ELAC2):c.2342G>A (p.Arg781His) rs119484086 0.00064
NM_182914.3(SYNE2):c.3506G>A (p.Arg1169His) rs200437377 0.00064
NM_182914.3(SYNE2):c.4178G>A (p.Arg1393Gln) rs117647282 0.00064
NM_201384.3(PLEC):c.5796G>A (p.Ala1932=) rs375568532 0.00064
NM_000260.4(MYO7A):c.2882G>A (p.Gly961Asp) rs199575418 0.00063
NM_000426.4(LAMA2):c.6128A>G (p.Gln2043Arg) rs144155507 0.00063
NM_001164508.2(NEB):c.6088C>T (p.Leu2030Phe) rs200251444 0.00063
NM_001244008.2(KIF1A):c.3494T>C (p.Ile1165Thr) rs35698242 0.00063
NM_001267550.2(TTN):c.54710T>C (p.Leu18237Pro) rs201412693 0.00063
NM_001267550.2(TTN):c.77716G>A (p.Glu25906Lys) rs56341835 0.00063
NM_001330677.2(TBX15):c.1325G>A (p.Arg442Lys) rs144291418 0.00063
NM_002206.3(ITGA7):c.340A>G (p.Met114Val) rs146565340 0.00063
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) rs145843073 0.00063
NM_004260.4(RECQL4):c.817G>A (p.Ala273Thr) rs34103564 0.00063
NM_005529.7(HSPG2):c.10609G>A (p.Gly3537Arg) rs145048530 0.00063
NM_006254.4(PRKCD):c.1447C>T (p.Arg483Trp) rs35891605 0.00063
NM_016734.3(PAX5):c.638C>T (p.Ser213Leu) rs137870876 0.00063
NM_017534.6(MYH2):c.3884G>A (p.Arg1295His) rs143341678 0.00063
NM_170707.4(LMNA):c.1912G>A (p.Gly638Arg) rs144851946 0.00063
NM_000322.5(PRPH2):c.708C>T (p.Tyr236=) rs61755813 0.00062
NM_001130987.2(DYSF):c.559G>A (p.Gly187Arg) rs200970855 0.00062
NM_001267550.2(TTN):c.92294G>C (p.Arg30765Thr) rs373099440 0.00062
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331 0.00062
NM_024301.5(FKRP):c.969C>T (p.Arg323=) rs532054402 0.00062
NM_031372.4(HNRNPDL):c.110A>C (p.Gln37Pro) rs911762606 0.00062
NM_000080.4(CHRNE):c.103T>C (p.Tyr35His) rs144169073 0.00061
NM_000159.4(GCDH):c.1261G>A (p.Ala421Thr) rs151201155 0.00061
NM_000426.4(LAMA2):c.3154A>G (p.Ser1052Gly) rs149165006 0.00061
NM_000540.3(RYR1):c.443C>T (p.Thr148Ile) rs151325948 0.00061
NM_001164508.2(NEB):c.20671C>T (p.Leu6891Phe) rs182866658 0.00061
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter) rs549794342 0.00061
NM_001267550.2(TTN):c.81472C>G (p.Pro27158Ala) rs200771189 0.00061
NM_005883.3(APC2):c.4557G>A (p.Pro1519=) rs111280997 0.00061
NM_017617.5(NOTCH1):c.6836C>T (p.Ala2279Val) rs200370953 0.00061
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser) rs386834233 0.00061
NM_201384.3(PLEC):c.9049C>T (p.Arg3017Trp) rs201041716 0.00061
NM_000426.4(LAMA2):c.6629T>C (p.Val2210Ala) rs78880369 0.00060
NM_001267550.2(TTN):c.29042-2A>C rs6716782 0.00060
NM_182961.4(SYNE1):c.5282A>G (p.Gln1761Arg) rs146244669 0.00060
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln) rs143486492 0.00059
NM_001130987.2(DYSF):c.3814C>T (p.Arg1272Trp) rs146970014 0.00059
NM_001177316.2(SLC34A3):c.575C>T (p.Ser192Leu) rs199690076 0.00059
NM_001267550.2(TTN):c.68824G>A (p.Glu22942Lys) rs199506676 0.00059
NM_001927.4(DES):c.934G>A (p.Asp312Asn) rs34337334 0.00059
NM_016653.3(MAP3K20):c.1346G>A (p.Gly449Glu) rs201693932 0.00059
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) rs202052174 0.00059
NM_182961.4(SYNE1):c.18789G>A (p.Ser6263=) rs150905950 0.00059
NM_000540.3(RYR1):c.6961A>G (p.Ile2321Val) rs34390345 0.00058
NM_001006658.3(CR2):c.1676G>A (p.Gly559Glu) rs143614333 0.00058
NM_001032283.3(TMPO):c.565+2368G>A rs138295270 0.00058
NM_001134831.2(AHI1):c.1533T>G (p.Val511=) rs373669500 0.00058
NM_001142864.4(PIEZO1):c.4766C>T (p.Thr1589Ile) rs534283978 0.00058
NM_001142864.4(PIEZO1):c.6905G>A (p.Arg2302His) rs200555745 0.00058
NM_001267550.2(TTN):c.25481G>A (p.Arg8494Gln) rs201418615 0.00058
NM_001363118.2(SLC52A2):c.535G>A (p.Gly179Ser) rs151081625 0.00058
NM_001492.6(GDF1):c.681C>A (p.Cys227Ter) rs121434422 0.00058
NM_001927.4(DES):c.656C>T (p.Thr219Ile) rs144901249 0.00058
NM_182961.4(SYNE1):c.5807A>G (p.His1936Arg) rs112744561 0.00058
NM_000153.4(GALC):c.349A>G (p.Met117Val) rs145580093 0.00057
NM_000203.5(IDUA):c.1118A>C (p.Asn373Thr) rs140564189 0.00057
NM_000379.4(XDH):c.1686+1G>C rs148412639 0.00057
NM_000540.3(RYR1):c.14070G>A (p.Thr4690=) rs113058779 0.00057
NM_001040716.2(PC):c.3107G>A (p.Arg1036His) rs141237842 0.00057
NM_001142864.4(PIEZO1):c.6836G>A (p.Arg2279His) rs577357377 0.00057
NM_001267550.2(TTN):c.49357C>A (p.Pro16453Thr) rs200121902 0.00057
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu) rs139260335 0.00057
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260 0.00057
NM_024301.5(FKRP):c.531G>A (p.Glu177=) rs768007208 0.00057
NM_133642.5(LARGE1):c.211G>A (p.Glu71Lys) rs116164106 0.00057
NM_172364.5(CACNA2D4):c.2406C>A (p.Tyr802Ter) rs71454844 0.00057
NM_000023.4(SGCA):c.421C>A (p.Arg141Ser) rs35130237 0.00056
NM_000152.5(GAA):c.2417C>T (p.Thr806Met) rs139850074 0.00056
NM_000213.5(ITGB4):c.3427A>G (p.Ile1143Val) rs149481974 0.00056
NM_000298.6(PKLR):c.1614A>T (p.Glu538Asp) rs201217064 0.00056
NM_001267550.2(TTN):c.71841G>C (p.Lys23947Asn) rs56019808 0.00056
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_004984.4(KIF5A):c.1105C>T (p.Arg369Trp) rs140929639 0.00056
NM_005373.3(MPL):c.1488C>T (p.Thr496=) rs140091584 0.00056
NM_005529.7(HSPG2):c.6541G>A (p.Ala2181Thr) rs143109401 0.00056
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser) rs149017703 0.00056
NM_020549.5(CHAT):c.1174G>A (p.Ala392Thr) rs115877658 0.00056
NM_138691.3(TMC1):c.1763+3A>G rs370898981 0.00056
NM_198129.4(LAMA3):c.9241C>T (p.Arg3081Cys) rs35762515 0.00056
NM_206933.4(USH2A):c.12343C>T (p.Arg4115Cys) rs111033275 0.00056
NM_000135.4(FANCA):c.2658G>C (p.Glu886Asp) rs139002130 0.00055
NM_000702.4(ATP1A2):c.1474G>A (p.Glu492Lys) rs142348542 0.00055
NM_001130987.2(DYSF):c.4627G>A (p.Val1543Ile) rs143895253 0.00055
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His) rs191539637 0.00055
NM_001283009.2(RTEL1):c.2915C>T (p.Thr972Ile) rs199834369 0.00055
NM_006295.3(VARS1):c.3650G>A (p.Arg1217His) rs368075745 0.00055
NM_024105.4(ALG12):c.563G>A (p.Cys188Tyr) rs555600636 0.00055
NM_032409.3(PINK1):c.558G>C (p.Lys186Asn) rs143204084 0.00055
NM_053025.4(MYLK):c.3898G>A (p.Ala1300Thr) rs149530842 0.00055
NM_182961.4(SYNE1):c.10396C>G (p.Leu3466Val) rs150637898 0.00055
NM_201384.3(PLEC):c.11594G>A (p.Arg3865His) rs200722246 0.00055
NM_000081.4(LYST):c.4637C>T (p.Ala1546Val) rs142983846 0.00054
NM_000265.7(NCF1):c.579G>A (p.Trp193Ter) rs145360423 0.00054
NM_000342.3(SLC4A1):c.980C>G (p.Pro327Arg) rs28931583 0.00054
NM_001164508.2(NEB):c.14266C>A (p.Gln4756Lys) rs755875238 0.00054
NM_001384140.1(PCDH15):c.1028G>A (p.Arg343Lys) rs141169746 0.00054
NM_004304.5(ALK):c.3080C>T (p.Pro1027Leu) rs140733978 0.00054
NM_007215.4(POLG2):c.466A>G (p.Ile156Val) rs137901677 0.00054
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln) rs74315342 0.00054
NM_015602.4(TOR1AIP1):c.155A>T (p.Gln52Leu) rs139690983 0.00054
NM_021971.4(GMPPB):c.79G>C (p.Asp27His) rs142336618 0.00054
NM_000053.4(ATP7B):c.1993A>G (p.Met665Val) rs146303208 0.00053
NM_001142864.4(PIEZO1):c.7153G>A (p.Val2385Met) rs369319123 0.00053
NM_001267550.2(TTN):c.102657T>A (p.Ser34219Arg) rs370077023 0.00053
NM_001267550.2(TTN):c.18172C>T (p.Arg6058Cys) rs189127014 0.00053
NM_001329943.3(KIAA0586):c.94dup (p.His32fs) rs555421894 0.00053
NM_002180.3(IGHMBP2):c.2360C>T (p.Pro787Leu) rs141594765 0.00053
NM_004370.6(COL12A1):c.3835+4A>G rs187358458 0.00053
NM_005529.7(HSPG2):c.11256G>A (p.Leu3752=) rs144122107 0.00053
NM_012210.4(TRIM32):c.*1G>A rs142781513 0.00053
NM_017668.3(NDE1):c.872C>T (p.Ser291Phe) rs146284370 0.00053
NM_201384.3(PLEC):c.6045A>T (p.Lys2015Asn) rs200540800 0.00053
NM_000081.4(LYST):c.11086G>A (p.Val3696Ile) rs147221131 0.00052
NM_000262.3(NAGA):c.479C>G (p.Ser160Cys) rs121434532 0.00052
NM_000426.4(LAMA2):c.1645C>T (p.Pro549Ser) rs139070796 0.00052
NM_000426.4(LAMA2):c.3014A>G (p.Asn1005Ser) rs139244736 0.00052
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921 0.00052
NM_004320.6(ATP2A1):c.1427G>A (p.Arg476His) rs150068594 0.00052
NM_017534.6(MYH2):c.5820A>G (p.Glu1940=) rs140527143 0.00052
NM_017646.6(TRIT1):c.979C>T (p.Arg327Ter) rs144042123 0.00052
NM_024079.5(ALG8):c.478+1G>A rs139832787 0.00052
NM_152383.5(DIS3L2):c.662C>G (p.Thr221Arg) rs201020526 0.00052
NM_182914.3(SYNE2):c.4912T>C (p.Tyr1638His) rs146801942 0.00052
NM_201384.3(PLEC):c.5521G>A (p.Ala1841Thr) rs201657125 0.00052
NM_000016.6(ACADM):c.600-18G>A rs370523609 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_000540.3(RYR1):c.3505A>C (p.Met1169Leu) rs139069946 0.00051
NM_000751.3(CHRND):c.817G>A (p.Asp273Asn) rs202209156 0.00051
NM_001035.3(RYR2):c.3320C>T (p.Thr1107Met) rs200236750 0.00051
NM_001142864.4(PIEZO1):c.6165-7G>A rs141011459 0.00051
NM_001164508.2(NEB):c.3468C>T (p.Val1156=) rs373258662 0.00051
NM_001267550.2(TTN):c.55079C>T (p.Pro18360Leu) rs192788942 0.00051
NM_001940.4(ATN1):c.1865C>G (p.Ala622Gly) rs150801397 0.00051
NM_003673.4(TCAP):c.313G>C (p.Glu105Gln) rs146906267 0.00051
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys) rs116171274 0.00051
NM_005529.7(HSPG2):c.5705G>A (p.Gly1902Asp) rs553885469 0.00051
NM_005677.4(COLQ):c.167C>T (p.Pro56Leu) rs768517440 0.00051
NM_031372.4(HNRNPDL):c.274T>C (p.Ser92Pro) rs199543859 0.00051
NM_144670.6(A2ML1):c.174_175dup (p.Lys59fs) rs745711489 0.00051
NM_182914.3(SYNE2):c.8761A>C (p.Lys2921Gln) rs182683822 0.00051
NM_201384.3(PLEC):c.8763G>A (p.Thr2921=) rs377001239 0.00051
NM_000426.4(LAMA2):c.8761G>A (p.Asp2921Asn) rs139159258 0.00050
NM_001110792.2(MECP2):c.*1368C>A rs267608355 0.00050
NM_001130987.2(DYSF):c.2020A>G (p.Lys674Glu) rs139754493 0.00050
NM_001164508.2(NEB):c.23524C>T (p.Arg7842Cys) rs184516994 0.00050
NM_001848.3(COL6A1):c.2876T>C (p.Val959Ala) rs144814689 0.00050
NM_005529.7(HSPG2):c.7337C>T (p.Ser2446Leu) rs146950983 0.00050
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747 0.00049
NM_000540.3(RYR1):c.9261C>T (p.Ile3087=) rs56338790 0.00049
NM_001164508.2(NEB):c.10201T>A (p.Ser3401Thr) rs199847072 0.00049
NM_001171.6(ABCC6):c.1540G>A (p.Val514Ile) rs59157279 0.00049
NM_001242896.3(DEPDC5):c.1525C>T (p.Arg509Cys) rs202083639 0.00049
NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr) rs72650064 0.00049
NM_001267550.2(TTN):c.57808G>C (p.Val19270Leu) rs369440319 0.00049
NM_001271.4(CHD2):c.4762C>T (p.Arg1588Trp) rs139646715 0.00049
NM_003002.4(SDHD):c.278A>G (p.Tyr93Cys) rs142135772 0.00049
NM_003126.4(SPTA1):c.4711T>G (p.Cys1571Gly) rs201601992 0.00049
NM_020166.5(MCCC1):c.2009C>T (p.Ala670Val) rs138937107 0.00049
NM_033337.3(CAV3):c.443G>A (p.Arg148Gln) rs140575619 0.00049
NM_201384.3(PLEC):c.13182C>T (p.Thr4394=) rs373958891 0.00049
NM_201384.3(PLEC):c.5227G>A (p.Ala1743Thr) rs781946435 0.00049
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys) rs137854529 0.00049
NM_000334.4(SCN4A):c.3001C>T (p.Arg1001Cys) rs199713025 0.00048
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) rs61750641 0.00048
NM_001122955.4(BSCL2):c.1100C>T (p.Pro367Leu) rs144245125 0.00048
NM_001142864.4(PIEZO1):c.5312C>T (p.Pro1771Leu) rs202099525 0.00048
NM_001142864.4(PIEZO1):c.7174G>A (p.Glu2392Lys) rs528448732 0.00048
NM_001164508.2(NEB):c.3255C>T (p.Asp1085=) rs368625295 0.00048
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) rs182018947 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.95270T>C (p.Ile31757Thr) rs72648259 0.00048
NM_001384732.1(CPLANE1):c.4793C>A (p.Thr1598Lys) rs147588579 0.00048
NM_004393.6(DAG1):c.1022C>T (p.Thr341Ile) rs148759919 0.00048
NM_017617.5(NOTCH1):c.3970G>A (p.Val1324Met) rs149057410 0.00048
NM_020822.3(KCNT1):c.1726G>A (p.Glu576Lys) rs147306623 0.00048
NM_024301.5(FKRP):c.456C>G (p.Ser152Arg) rs199714523 0.00048
NM_080860.4(RSPH1):c.275-2A>C rs151107532 0.00048
NM_000642.3(AGL):c.1028G>A (p.Arg343Gln) rs137943515 0.00047
NM_001077525.3(MTMR14):c.1151G>A (p.Ser384Asn) rs115607360 0.00047
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661 0.00047
NM_000017.4(ACADS):c.988C>T (p.Arg330Cys) rs140853839 0.00046
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) rs140856217 0.00046
NM_000080.4(CHRNE):c.901G>A (p.Val301Met) rs140023380 0.00046
NM_000320.3(QDPR):c.588G>C (p.Glu196Asp) rs112209600 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_001099922.3(ALG13):c.2485A>G (p.Met829Val) rs368075878 0.00046
NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser) rs141137410 0.00046
NM_001267550.2(TTN):c.18550G>A (p.Ala6184Thr) rs72648947 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.66391A>G (p.Thr22131Ala) rs140842479 0.00046
NM_001267550.2(TTN):c.88028G>A (p.Arg29343His) rs73036368 0.00046
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_005055.5(RAPSN):c.492C>T (p.Arg164=) rs146237774 0.00046
NM_005529.7(HSPG2):c.8605G>C (p.Ala2869Pro) rs139838884 0.00046
NM_006363.6(SEC23B):c.1665+6T>C rs371786580 0.00046
NM_012144.4(DNAI1):c.389-1G>C rs200488444 0.00046
NM_021008.4(DEAF1):c.1640C>G (p.Thr547Ser) rs111947578 0.00046
NM_025114.4(CEP290):c.4813-2A>G rs369523378 0.00046
NM_152296.5(ATP1A3):c.994-3C>G rs377256877 0.00046
NM_173660.5(DOK7):c.296C>T (p.Ala99Val) rs138010842 0.00046
NM_182961.4(SYNE1):c.21002A>G (p.Lys7001Arg) rs145075161 0.00046
NM_201384.3(PLEC):c.5874G>A (p.Thr1958=) rs185082202 0.00046
NM_201384.3(PLEC):c.6778G>A (p.Asp2260Asn) rs371763907 0.00046
NM_201384.3(PLEC):c.8046C>T (p.Leu2682=) rs375590561 0.00046
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_000518.5(HBB):c.316-125A>G rs63751175 0.00045
NM_000528.4(MAN2B1):c.1437G>T (p.Ala479=) rs139435774 0.00045
NM_001267550.2(TTN):c.100400T>G (p.Val33467Gly) rs200166942 0.00045
NM_001267550.2(TTN):c.10049C>T (p.Pro3350Leu) rs139504522 0.00045
NM_001267550.2(TTN):c.104592G>A (p.Pro34864=) rs144094650 0.00045
NM_001267550.2(TTN):c.41488G>A (p.Val13830Ile) rs149059189 0.00045
NM_001267550.2(TTN):c.51065C>T (p.Ala17022Val) rs372419267 0.00045
NM_001267550.2(TTN):c.84148A>G (p.Ile28050Val) rs201348580 0.00045
NM_001267550.2(TTN):c.91311A>G (p.Glu30437=) rs374094732 0.00045
NM_003126.4(SPTA1):c.3742C>T (p.Arg1248Trp) rs200714808 0.00045
NM_004370.6(COL12A1):c.5585T>C (p.Val1862Ala) rs200029869 0.00045
NM_005529.7(HSPG2):c.13033G>A (p.Gly4345Arg) rs148788926 0.00045
NM_013275.6(ANKRD11):c.6112A>G (p.Lys2038Glu) rs200724087 0.00045
NM_019109.5(ALG1):c.827G>A (p.Arg276Gln) rs201975029 0.00045
NM_020376.4(PNPLA2):c.236G>A (p.Arg79Gln) rs139576982 0.00045
NM_000257.4(MYH7):c.3960G>A (p.Glu1320=) rs147797612 0.00044
NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=) rs143762717 0.00044
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00044
NM_002180.3(IGHMBP2):c.165G>C (p.Gln55His) rs201692151 0.00044
NM_004004.6(GJB2):c.-22-6T>C rs141962118 0.00044
NM_012186.3(FOXE3):c.527C>T (p.Ala176Val) rs201955081 0.00044
NM_017534.6(MYH2):c.1898-3C>T rs370752980 0.00044
NM_032228.6(FAR1):c.1077C>G (p.Ala359=) rs146816221 0.00044
NM_176869.3(PPA2):c.683C>T (p.Pro228Leu) rs138215926 0.00044
NM_201384.3(PLEC):c.6099G>A (p.Ala2033=) rs375465011 0.00044
NM_000081.4(LYST):c.692A>G (p.Gln231Arg) rs147433918 0.00043
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp) rs121918170 0.00043
NM_000540.3(RYR1):c.12203A>G (p.Lys4068Arg) rs114009747 0.00043
NM_001130987.2(DYSF):c.4355C>T (p.Ser1452Leu) rs139411595 0.00043
NM_001218.5(CA12):c.908-1G>A rs148438059 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_001352514.2(HLCS):c.1347G>C (p.Arg449Ser) rs142621386 0.00043
NM_001352514.2(HLCS):c.1390G>T (p.Val464Leu) rs144705277 0.00043
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr) rs201082652 0.00043
NM_004525.3(LRP2):c.6553C>T (p.Leu2185Phe) rs143884041 0.00043
NM_004625.4(WNT7A):c.1028C>T (p.Thr343Met) rs140491601 0.00043
NM_005529.7(HSPG2):c.10187C>T (p.Ala3396Val) rs200225298 0.00043
NM_139027.6(ADAMTS13):c.559G>C (p.Asp187His) rs148312697 0.00043
NM_144670.6(A2ML1):c.3967A>C (p.Asn1323His) rs200176373 0.00043
NM_182914.3(SYNE2):c.7976G>A (p.Arg2659Gln) rs199561218 0.00043
NM_201384.3(PLEC):c.1545C>T (p.Pro515=) rs199968254 0.00043
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser) rs190521996 0.00042
NM_000540.3(RYR1):c.8671A>C (p.Lys2891Gln) rs146793133 0.00042
NM_000540.3(RYR1):c.9385C>T (p.Leu3129Phe) rs143445685 0.00042
NM_000751.3(CHRND):c.727C>T (p.Arg243Cys) rs201733876 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.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_001317778.2(SFTPC):c.523C>G (p.Leu175Val) rs201685063 0.00042
NM_001378615.1(CC2D2A):c.*1T>A rs199945435 0.00042
NM_005609.4(PYGM):c.1692C>T (p.Phe564=) rs116812032 0.00042
NM_005732.4(RAD50):c.260G>A (p.Arg87His) rs374561375 0.00042
NM_012213.3(MLYCD):c.1420A>G (p.Ile474Val) rs375935118 0.00042
NM_182914.3(SYNE2):c.1154A>G (p.Asn385Ser) rs201176149 0.00042
NM_201384.3(PLEC):c.13111G>A (p.Ala4371Thr) rs200361523 0.00042
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) rs121907998 0.00041
NM_000124.4(ERCC6):c.1145A>G (p.Glu382Gly) rs56089364 0.00041
NM_000298.6(PKLR):c.1435C>T (p.Arg479Cys) rs201406712 0.00041
NM_000368.5(TSC1):c.1163T>C (p.Leu388Pro) rs377598226 0.00041
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg) rs138977195 0.00041
NM_001142864.4(PIEZO1):c.1107+1G>C rs199524784 0.00041
NM_001267550.2(TTN):c.20743G>T (p.Ala6915Ser) rs201728165 0.00041
NM_001267550.2(TTN):c.52022G>A (p.Arg17341Gln) rs370390570 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.93367G>C (p.Val31123Leu) rs202096200 0.00041
NM_001267550.2(TTN):c.99901G>A (p.Glu33301Lys) rs72648278 0.00041
NM_003126.4(SPTA1):c.3829C>T (p.Arg1277Cys) rs143642542 0.00041
NM_004369.4(COL6A3):c.4103C>T (p.Thr1368Met) rs116505603 0.00041
NM_006415.4(SPTLC1):c.120C>G (p.Phe40Leu) rs142153571 0.00041
NM_014305.4(TGDS):c.298G>T (p.Ala100Ser) rs140430952 0.00041
NM_015512.5(DNAH1):c.3202G>A (p.Val1068Met) rs201455697 0.00041
NM_020117.11(LARS1):c.1292T>A (p.Val431Asp) rs150429680 0.00041
NM_201384.3(PLEC):c.10498C>T (p.Arg3500Cys) rs200541837 0.00041
NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser) rs55886062 0.00040
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) rs148158093 0.00040
NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642 0.00040
NM_001182.5(ALDH7A1):c.494G>C (p.Gly165Ala) rs375491094 0.00040
NM_001292063.2(OTOG):c.2464C>T (p.Gln822Ter) rs554847663 0.00040
NM_015295.3(SMCHD1):c.1957-3C>T rs201069969 0.00040
NM_016213.5(TRIP4):c.1165C>T (p.Pro389Ser) rs144077712 0.00040
NM_017534.6(MYH2):c.332C>T (p.Ala111Val) rs140468333 0.00040
NM_201384.3(PLEC):c.3533G>A (p.Arg1178Gln) rs782590380 0.00040
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp) rs146379816 0.00039
NM_000083.3(CLCN1):c.1453A>G (p.Met485Val) rs146457619 0.00039
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532 0.00039
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg) rs41298442 0.00039
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_000199.5(SGSH):c.734G>A (p.Arg245His) rs104894635 0.00039
NM_000384.3(APOB):c.3382C>T (p.Arg1128Cys) rs72653076 0.00039
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp) rs121908759 0.00039
NM_001267550.2(TTN):c.17224C>T (p.Leu5742Phe) rs72648943 0.00039
NM_001267550.2(TTN):c.53122A>G (p.Lys17708Glu) rs185913848 0.00039
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139 0.00039
NM_003126.4(SPTA1):c.47A>T (p.Lys16Met) rs201634881 0.00039
NM_012062.5(DNM1L):c.1649C>A (p.Ala550Asp) rs143236486 0.00039
NM_015295.3(SMCHD1):c.5024A>G (p.His1675Arg) rs201071071 0.00039
NM_021942.6(TRAPPC11):c.2145A>C (p.Glu715Asp) rs139034513 0.00039
NM_145064.3(STAC3):c.851G>C (p.Trp284Ser) rs140291094 0.00039
NM_153766.3(KCNJ1):c.521C>T (p.Thr174Met) rs117535913 0.00039
NM_183050.4(BCKDHB):c.411G>A (p.Ala137=) rs142858149 0.00039
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) rs121909398 0.00039
NM_000038.6(APC):c.5690A>C (p.His1897Pro) rs112610898 0.00038
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg) rs55801750 0.00038
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter) rs137852700 0.00038
NM_000540.3(RYR1):c.9635A>G (p.Glu3212Gly) rs199738299 0.00038
NM_001161403.3(LIMS2):c.882C>A (p.Asn294Lys) rs149101001 0.00038
NM_001267550.2(TTN):c.32557C>T (p.Pro10853Ser) rs201738153 0.00038
NM_002972.4(SBF1):c.142-3C>T rs191369963 0.00038
NM_004281.4(BAG3):c.821C>T (p.Ser274Leu) rs143919208 0.00038
NM_005591.4(MRE11):c.1727G>A (p.Arg576Gln) rs139461096 0.00038
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_019616.4(F7):c.995C>T (p.Ala332Val) rs36209567 0.00038
NM_182914.3(SYNE2):c.6511C>G (p.Leu2171Val) rs199743242 0.00038
NM_000540.3(RYR1):c.12553G>A (p.Ala4185Thr) rs151119428 0.00037
NM_001267550.2(TTN):c.76987G>A (p.Asp25663Asn) rs143186270 0.00037
NM_001267550.2(TTN):c.98500G>A (p.Glu32834Lys) rs199761901 0.00037
NM_001369.3(DNAH5):c.3179A>T (p.Lys1060Met) rs145672251 0.00037
NM_001609.4(ACADSB):c.303+1G>A rs147936696 0.00037
NM_001609.4(ACADSB):c.375dup (p.Glu126fs) rs756587384 0.00037
NM_002640.4(SERPINB8):c.850C>T (p.Arg284Ter) rs144666367 0.00037
NM_003126.4(SPTA1):c.1351-4A>G rs200868774 0.00037
NM_004369.4(COL6A3):c.5839-3C>T rs112825341 0.00037
NM_020549.5(CHAT):c.1883G>A (p.Arg628Gln) rs114545628 0.00037
NM_182914.3(SYNE2):c.2270T>C (p.Leu757Ser) rs200319405 0.00037
NM_201384.3(PLEC):c.11329G>A (p.Glu3777Lys) rs538589589 0.00037
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr) rs147472391 0.00036
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00036
NM_001142864.4(PIEZO1):c.4252T>C (p.Tyr1418His) rs147153006 0.00036
NM_001142864.4(PIEZO1):c.6473A>G (p.Lys2158Arg) rs200506892 0.00036
NM_001171.6(ABCC6):c.1703T>C (p.Phe568Ser) rs66864704 0.00036
NM_001267550.2(TTN):c.2599A>G (p.Ser867Gly) rs148631577 0.00036
NM_001267550.2(TTN):c.75361A>G (p.Ile25121Val) rs199508062 0.00036
NM_001267550.2(TTN):c.9488G>A (p.Arg3163His) rs149755500 0.00036
NM_001739.2(CA5A):c.172G>A (p.Val58Met) rs200539625 0.00036
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) rs77375493 0.00036
NM_005188.4(CBL):c.2363G>A (p.Arg788Gln) rs150811339 0.00036
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu) rs28939378 0.00036
NM_020451.3(SELENON):c.1654G>A (p.Glu552Lys) rs200128474 0.00036
NM_020549.5(CHAT):c.1087G>A (p.Glu363Lys) rs75262191 0.00036
NM_020919.4(ALS2):c.1627G>A (p.Asp543Asn) rs201161419 0.00036
NM_022455.5(NSD1):c.3215G>A (p.Arg1072Gln) rs28932180 0.00036
NM_182914.3(SYNE2):c.13156C>G (p.Gln4386Glu) rs140277551 0.00036
NM_182914.3(SYNE2):c.15857A>G (p.Tyr5286Cys) rs149354607 0.00036
NM_203447.4(DOCK8):c.54-1G>T rs192864327 0.00036
NM_000055.4(BCHE):c.428G>A (p.Gly143Asp) rs201820739 0.00035
NM_000138.5(FBN1):c.1265G>A (p.Gly422Glu) rs139968089 0.00035
NM_000203.5(IDUA):c.1577T>C (p.Leu526Pro) rs781136336 0.00035
NM_001164508.2(NEB):c.11078G>A (p.Arg3693His) rs368915047 0.00035
NM_001164508.2(NEB):c.22370G>C (p.Ser7457Thr) rs142454476 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.78892G>A (p.Gly26298Arg) rs72648205 0.00035
NM_001267550.2(TTN):c.96016G>A (p.Val32006Met) rs191786700 0.00035
NM_004006.3(DMD):c.7321A>C (p.Thr2441Pro) rs146817002 0.00035
NM_004551.3(NDUFS3):c.381+6T>C rs377579231 0.00035
NM_005228.5(EGFR):c.769G>A (p.Glu257Lys) rs138847501 0.00035
NM_005609.4(PYGM):c.1925G>A (p.Arg642His) rs150098198 0.00035
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) rs199946797 0.00035
NM_006118.4(HAX1):c.117_122dup (p.Glu40_Gly41dup) rs781468690 0.00035
NM_000070.3(CAPN3):c.1543G>A (p.Gly515Arg) rs150226817 0.00034
NM_000093.5(COL5A1):c.598G>A (p.Asp200Asn) rs142890619 0.00034
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala) rs201273753 0.00034
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175 0.00034
NM_000178.4(GSS):c.631C>G (p.Gln211Glu) rs370351723 0.00034
NM_000257.4(MYH7):c.4909G>A (p.Ala1637Thr) rs141122361 0.00034
NM_000260.4(MYO7A):c.687C>T (p.Gly229=) rs371142158 0.00034
NM_000271.5(NPC1):c.1937G>A (p.Arg646His) rs112387560 0.00034
NM_000426.4(LAMA2):c.4926A>G (p.Thr1642=) rs62421010 0.00034
NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly) rs35003977 0.00034
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190 0.00034
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met) rs1800103 0.00034
NM_001142800.2(EYS):c.2137+1G>A rs199740930 0.00034
NM_001267550.2(TTN):c.14998C>T (p.Arg5000Cys) rs369933152 0.00034
NM_001267550.2(TTN):c.27485C>T (p.Thr9162Met) rs199793620 0.00034
NM_001267550.2(TTN):c.28187C>T (p.Pro9396Leu) rs373065549 0.00034
NM_001267550.2(TTN):c.49015C>T (p.Arg16339Trp) rs201793958 0.00034
NM_001267550.2(TTN):c.52536C>G (p.Asn17512Lys) rs199615557 0.00034
NM_001267550.2(TTN):c.82684T>C (p.Tyr27562His) rs376616067 0.00034
NM_001288705.3(CSF1R):c.1799C>T (p.Thr600Met) rs200788902 0.00034
NM_001375808.2(LPIN2):c.2671G>A (p.Asp891Asn) rs200648652 0.00034
NM_004444.5(EPHB4):c.1017G>T (p.Leu339=) rs55867842 0.00034
NM_004817.4(TJP2):c.1258C>T (p.Arg420Cys) rs199761505 0.00034
NM_005609.4(PYGM):c.1160G>A (p.Arg387His) rs200357590 0.00034
NM_005751.5(AKAP9):c.4163C>T (p.Ser1388Leu) rs143565222 0.00034
NM_006576.4(AVIL):c.404G>A (p.Arg135Gln) rs138047529 0.00034
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883 0.00034
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266 0.00034
NM_015909.4(NBAS):c.5984G>A (p.Arg1995Gln) rs140373332 0.00034
NM_017739.4(POMGNT1):c.1539+1G>A rs138642840 0.00034
NM_018834.6(MATR3):c.1991A>C (p.Glu664Ala) rs139589527 0.00034
NM_020549.5(CHAT):c.2222G>A (p.Arg741Lys) rs114719193 0.00034
NM_000152.5(GAA):c.841C>T (p.Arg281Trp) rs142967546 0.00033
NM_000350.3(ABCA4):c.1964T>G (p.Phe655Cys) rs200692438 0.00033
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) rs75541969 0.00033
NM_000540.3(RYR1):c.1453A>G (p.Met485Val) rs147723844 0.00033
NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val) rs121912714 0.00033
NM_001164508.2(NEB):c.8125G>A (p.Val2709Ile) rs368637389 0.00033
NM_001267550.2(TTN):c.15986G>A (p.Gly5329Asp) rs202234492 0.00033
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys) rs201477273 0.00033
NM_004370.6(COL12A1):c.6752G>A (p.Arg2251His) rs151324784 0.00033
NM_020928.2(ZSWIM6):c.82A>G (p.Ser28Gly) rs1456197449 0.00033
NM_032119.4(ADGRV1):c.5387C>G (p.Ser1796Cys) rs770897158 0.00033
NM_201384.3(PLEC):c.8315G>A (p.Arg2772His) rs201916690 0.00033
NM_000089.4(COL1A2):c.2425C>T (p.Pro809Ser) rs145355907 0.00032
NM_000275.3(OCA2):c.2020C>G (p.Leu674Val) rs371412500 0.00032
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786 0.00032
NM_000719.7(CACNA1C):c.6161A>G (p.Lys2054Arg) rs200588235 0.00032
NM_001164508.2(NEB):c.6278T>C (p.Val2093Ala) rs147476634 0.00032
NM_001182.5(ALDH7A1):c.203C>A (p.Thr68Asn) rs58528748 0.00032
NM_001267550.2(TTN):c.107753G>A (p.Cys35918Tyr) rs193212275 0.00032
NM_001267550.2(TTN):c.26528C>T (p.Thr8843Met) rs72648990 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.81302G>T (p.Gly27101Val) rs201490050 0.00032
NM_001849.4(COL6A2):c.*4C>T rs370155138 0.00032
NM_002693.3(POLG):c.3098C>T (p.Ala1033Val) rs551708243 0.00032
NM_003126.4(SPTA1):c.6235C>T (p.Arg2079Trp) rs372075053 0.00032
NM_006383.4(CIB2):c.311G>A (p.Arg104Gln) rs200697103 0.00032
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_012179.4(FBXO7):c.277T>G (p.Ser93Ala) rs143041875 0.00032
NM_014053.4(FLVCR1):c.1092+5G>A rs556788423 0.00032
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873 0.00032
NM_152490.5(B3GALNT2):c.575G>A (p.Arg192His) rs201345883 0.00032
NM_173354.5(SIK1):c.2159C>T (p.Pro720Leu) rs547049916 0.00032
NM_182914.3(SYNE2):c.5155A>G (p.Met1719Val) rs189676187 0.00032
NM_198576.4(AGRN):c.1198C>T (p.Arg400Trp) rs149636063 0.00032
NM_201384.3(PLEC):c.5930C>T (p.Ala1977Val) rs398123401 0.00032
NM_000032.5(ALAS2):c.1244C>T (p.Ala415Val) rs143328343 0.00031
NM_000036.3(AMPD1):c.1274G>A (p.Arg425His) rs121912682 0.00031
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr) rs1801256 0.00031
NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser) rs61761869 0.00031
NM_000342.4(SLC4A1):c.2701C>T (p.Arg901Trp) rs201265160 0.00031
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_000540.3(RYR1):c.13547A>G (p.Glu4516Gly) rs149984626 0.00031
NM_000540.3(RYR1):c.7876C>T (p.Leu2626=) rs145446438 0.00031
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) rs121908096 0.00031
NM_001048174.2(MUTYH):c.1392+2C>T rs140288388 0.00031
NM_001142864.4(PIEZO1):c.2167C>T (p.Arg723Cys) rs182793773 0.00031
NM_001267550.2(TTN):c.104277G>A (p.Lys34759=) rs377391143 0.00031
NM_001267550.2(TTN):c.1212C>T (p.Tyr404=) rs139187345 0.00031
NM_001267550.2(TTN):c.1297G>A (p.Val433Ile) rs146000949 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.84640A>G (p.Met28214Val) rs72648221 0.00031
NM_001267550.2(TTN):c.93215G>A (p.Arg31072His) rs141817409 0.00031
NM_001267550.2(TTN):c.9487C>T (p.Arg3163Cys) rs140664731 0.00031
NM_001363118.2(SLC52A2):c.1300C>T (p.His434Tyr) rs566858747 0.00031
NM_001458.5(FLNC):c.5954C>T (p.Ser1985Leu) rs200415625 0.00031
NM_001845.6(COL4A1):c.1735G>A (p.Val579Ile) rs141527136 0.00031
NM_001848.3(COL6A1):c.1115A>G (p.Glu372Gly) rs149338158 0.00031
NM_003126.4(SPTA1):c.3839A>G (p.Asp1280Gly) rs200890386 0.00031
NM_004369.4(COL6A3):c.776C>T (p.Ala259Val) rs149924028 0.00031
NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs) rs72553875 0.00031
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu) rs138249161 0.00031
NM_024301.5(FKRP):c.898G>A (p.Val300Met) rs563033008 0.00031
NM_182914.3(SYNE2):c.4910A>G (p.Tyr1637Cys) rs143578863 0.00031
NM_000540.3(RYR1):c.79G>A (p.Val27Met) rs143481004 0.00030
NM_001142864.4(PIEZO1):c.7471C>T (p.Arg2491Trp) rs201746476 0.00030
NM_001267550.2(TTN):c.32071G>A (p.Ala10691Thr) rs371452173 0.00030
NM_001267550.2(TTN):c.66673G>A (p.Asp22225Asn) rs72646870 0.00030
NM_001267550.2(TTN):c.70097T>C (p.Val23366Ala) rs372782502 0.00030
NM_001267550.2(TTN):c.70906C>T (p.Arg23636Cys) rs189208539 0.00030
NM_001267550.2(TTN):c.72001G>A (p.Ala24001Thr) rs180828370 0.00030
NM_001267550.2(TTN):c.80263T>C (p.Phe26755Leu) rs200181804 0.00030
NM_001267550.2(TTN):c.88733G>A (p.Arg29578His) rs374147064 0.00030
NM_001267550.2(TTN):c.90991C>T (p.Pro30331Ser) rs75022916 0.00030
NM_001267550.2(TTN):c.97099C>T (p.Arg32367Cys) rs202064385 0.00030
NM_001355436.2(SPTB):c.1048G>A (p.Val350Met) rs141973081 0.00030
NM_003742.4(ABCB11):c.2620T>C (p.Ser874Pro) rs184334834 0.00030
NM_007118.4(TRIO):c.5671T>C (p.Ser1891Pro) rs138840811 0.00030
NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met) rs145387010 0.00030
NM_024537.4(CARS2):c.563C>T (p.Thr188Met) rs142034206 0.00030
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_182914.3(SYNE2):c.15446G>A (p.Arg5149His) rs142206385 0.00030
NM_201384.3(PLEC):c.4469G>A (p.Arg1490Gln) rs371290504 0.00030
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His) rs201666889 0.00029
NM_000081.4(LYST):c.2963G>A (p.Arg988Gln) rs150953050 0.00029
NM_000108.5(DLD):c.763A>C (p.Met255Leu) rs533405046 0.00029
NM_000138.5(FBN1):c.3058A>G (p.Thr1020Ala) rs111801777 0.00029
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys) rs80338671 0.00029
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152 0.00029
NM_000334.4(SCN4A):c.218C>T (p.Pro73Leu) rs75086141 0.00029
NM_000335.5(SCN5A):c.3010T>C (p.Cys1004Arg) rs199473183 0.00029
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) rs74315457 0.00029
NM_000540.3(RYR1):c.1598G>A (p.Arg533His) rs144336148 0.00029
NM_000548.5(TSC2):c.5116C>T (p.Arg1706Cys) rs45517391 0.00029
NM_000834.5(GRIN2B):c.2931C>G (p.Asp977Glu) rs147956755 0.00029
NM_001089.3(ABCA3):c.367G>A (p.Asp123Asn) rs145087575 0.00029
NM_001130438.3(SPTAN1):c.7319G>A (p.Arg2440Gln) rs141980692 0.00029
NM_001164508.2(NEB):c.20098C>A (p.Leu6700Ile) rs202139330 0.00029
NM_001164508.2(NEB):c.20162T>C (p.Leu6721Pro) rs111517514 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.28733C>T (p.Thr9578Met) rs184923756 0.00029
NM_001267550.2(TTN):c.30485C>T (p.Thr10162Met) rs200593368 0.00029
NM_001267550.2(TTN):c.62317C>A (p.Leu20773Met) rs375173874 0.00029
NM_001267550.2(TTN):c.74602A>G (p.Ile24868Val) rs72646898 0.00029
NM_001267550.2(TTN):c.75504T>G (p.Ser25168Arg) rs375204371 0.00029
NM_001267550.2(TTN):c.75682C>T (p.Pro25228Ser) rs377226540 0.00029
NM_001267550.2(TTN):c.79085T>C (p.Met26362Thr) rs529839486 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_001458.5(FLNC):c.1474A>G (p.Lys492Glu) rs118056738 0.00029
NM_001848.3(COL6A1):c.1399-3C>T rs200095847 0.00029
NM_001849.4(COL6A2):c.2608G>A (p.Asp870Asn) rs145785230 0.00029
NM_002471.4(MYH6):c.831G>T (p.Gln277His) rs140660481 0.00029
NM_004287.5(GOSR2):c.29+8C>T rs573306680 0.00029
NM_005502.4(ABCA1):c.5398A>C (p.Asn1800His) rs146292819 0.00029
NM_005529.7(HSPG2):c.11496C>T (p.Phe3832=) rs536882233 0.00029
NM_005529.7(HSPG2):c.8899G>A (p.Ala2967Thr) rs143274889 0.00029
NM_006005.3(WFS1):c.1265C>T (p.Ala422Val) rs150368988 0.00029
NM_006118.4(HAX1):c.428G>C (p.Gly143Ala) rs755031266 0.00029
NM_014208.3(DSPP):c.368G>C (p.Gly123Ala) rs199683760 0.00029
NM_014249.4(NR2E3):c.227G>A (p.Arg76Gln) rs104894493 0.00029
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp) rs119103267 0.00029
NM_017617.5(NOTCH1):c.2434G>A (p.Gly812Arg) rs201620755 0.00029
NM_017777.4(MKS1):c.368G>A (p.Arg123Gln) rs202112856 0.00029
NM_017950.4(CCDC40):c.248del (p.Ala83fs) rs397515393 0.00029
NM_020297.4(ABCC9):c.305T>C (p.Leu102Pro) rs374659816 0.00029
NM_020376.4(PNPLA2):c.943C>T (p.Pro315Ser) rs150385364 0.00029
NM_182914.3(SYNE2):c.18232G>A (p.Ala6078Thr) rs149128439 0.00029
NM_182961.4(SYNE1):c.16110C>A (p.His5370Gln) rs138277154 0.00029
NM_201384.3(PLEC):c.4524G>A (p.Gln1508=) rs370168097 0.00029
NM_201384.3(PLEC):c.6062C>T (p.Ala2021Val) rs367715805 0.00029
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala) rs28940279 0.00028
NM_000341.4(SLC3A1):c.592del (p.Ala198fs) rs778000327 0.00028
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_001164508.2(NEB):c.21838G>A (p.Asp7280Asn) rs200945025 0.00028
NM_001267550.2(TTN):c.40903G>A (p.Ala13635Thr) rs191699632 0.00028
NM_001267550.2(TTN):c.62572A>G (p.Thr20858Ala) rs200689750 0.00028
NM_001267550.2(TTN):c.99162G>A (p.Lys33054=) rs368686031 0.00028
NM_001845.6(COL4A1):c.367C>T (p.Pro123Ser) rs138503916 0.00028
NM_001849.4(COL6A2):c.2585G>A (p.Arg862Gln) rs367658663 0.00028
NM_002474.3(MYH11):c.2075C>T (p.Ala692Val) rs148893135 0.00028
NM_004614.5(TK2):c.80C>T (p.Ser27Leu) rs191573607 0.00028
NM_005529.7(HSPG2):c.8961C>T (p.Gly2987=) rs369899077 0.00028
NM_014704.4(CEP104):c.550G>C (p.Glu184Gln) rs146922115 0.00028
NM_021830.5(TWNK):c.1523A>G (p.Tyr508Cys) rs80356540 0.00028
NM_022042.4(SLC26A1):c.153G>C (p.Gln51His) rs200471470 0.00028
NM_024120.5(NDUFAF5):c.327G>C (p.Lys109Asn) rs150613320 0.00028
NM_000100.4(CSTB):c.67-1G>C rs147484110 0.00027
NM_000520.6(HEXA):c.1073+41C>T rs367719010 0.00027
NM_001079866.2(BCS1L):c.64C>T (p.Leu22=) rs777854606 0.00027
NM_001099922.3(ALG13):c.2975G>A (p.Cys992Tyr) rs190790872 0.00027
NM_001267550.2(TTN):c.20792A>G (p.Asn6931Ser) rs200866883 0.00027
NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala) rs34706299 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.82402A>C (p.Lys27468Gln) rs201958805 0.00027
NM_001953.5(TYMP):c.622G>A (p.Val208Met) rs121913039 0.00027
NM_004369.4(COL6A3):c.7029+10C>T rs376525317 0.00027
NM_005529.7(HSPG2):c.8576C>T (p.Thr2859Met) rs139855779 0.00027
NM_015450.3(POT1):c.340A>G (p.Ile114Val) rs146552802 0.00027
NM_133642.5(LARGE1):c.391G>A (p.Val131Ile) rs56239539 0.00027
NM_182914.3(SYNE2):c.1243G>T (p.Asp415Tyr) rs200836164 0.00027
NM_182961.4(SYNE1):c.7435A>G (p.Lys2479Glu) rs188146577 0.00027
NM_198994.3(TGM6):c.38G>A (p.Arg13Gln) rs201694328 0.00027
NM_201384.3(PLEC):c.10499G>A (p.Arg3500His) rs201387815 0.00027
NM_000038.6(APC):c.8266A>G (p.Ile2756Val) rs146115809 0.00026
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr) rs148044781 0.00026
NM_000092.5(COL4A4):c.2629C>T (p.Arg877Trp) rs55948916 0.00026
NM_000152.5(GAA):c.119G>A (p.Arg40Gln) rs374476196 0.00026
NM_000152.5(GAA):c.32G>A (p.Arg11Gln) rs138812846 0.00026
NM_000334.4(SCN4A):c.2955C>T (p.Pro985=) rs375621334 0.00026
NM_000334.4(SCN4A):c.4048G>A (p.Val1350Met) rs200274258 0.00026
NM_000426.4(LAMA2):c.5509G>A (p.Asp1837Asn) rs749423866 0.00026
NM_000435.3(NOTCH3):c.3170C>T (p.Ala1057Val) rs368146879 0.00026
NM_000492.4(CFTR):c.374T>C (p.Ile125Thr) rs141723617 0.00026
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser) rs200513014 0.00026
NM_000540.3(RYR1):c.4115C>T (p.Ala1372Val) rs370966353 0.00026
NM_000540.3(RYR1):c.5459G>T (p.Arg1820Leu) rs750141316 0.00026
NM_000639.3(FASLG):c.360G>C (p.Gln120His) rs372615226 0.00026
NM_001005361.3(DNM2):c.958G>A (p.Asp320Asn) rs150613209 0.00026
NM_001077365.2(POMT1):c.2097C>T (p.Tyr699=) rs138902646 0.00026
NM_001244008.2(KIF1A):c.4927G>A (p.Asp1643Asn) rs200141437 0.00026
NM_001244008.2(KIF1A):c.5168C>T (p.Ala1723Val) rs199804623 0.00026
NM_001267550.2(TTN):c.16477G>A (p.Gly5493Ser) rs377042940 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.48509A>G (p.Asn16170Ser) rs370809363 0.00026
NM_001267550.2(TTN):c.55354T>C (p.Ser18452Pro) rs372541479 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.78446C>G (p.Thr26149Ser) rs191263181 0.00026
NM_001267550.2(TTN):c.90382A>T (p.Thr30128Ser) rs183939928 0.00026
NM_001267550.2(TTN):c.92042C>A (p.Ala30681Asp) rs201400267 0.00026
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027 0.00026
NM_001458.5(FLNC):c.5284C>T (p.Arg1762Cys) rs201926772 0.00026
NM_001609.4(ACADSB):c.1159G>A (p.Glu387Lys) rs188094280 0.00026
NM_003072.5(SMARCA4):c.442G>A (p.Gly148Arg) rs138689221 0.00026
NM_003126.4(SPTA1):c.4240C>T (p.Arg1414Cys) rs201399968 0.00026
NM_004369.4(COL6A3):c.3118G>A (p.Val1040Ile) rs78427077 0.00026
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr) rs148147581 0.00026
NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro) rs139632595 0.00026
NM_005249.5(FOXG1):c.209A>C (p.Gln70Pro) rs587783633 0.00026
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_013382.7(POMT2):c.806G>A (p.Ser269Asn) rs375217032 0.00026
NM_015295.3(SMCHD1):c.3209T>C (p.Ile1070Thr) rs113434340 0.00026
NM_020631.6(PLEKHG5):c.440-2A>G rs144750655 0.00026
NM_021942.6(TRAPPC11):c.2508G>A (p.Gln836=) rs201868142 0.00026
NM_024757.5(EHMT1):c.311C>T (p.Ala104Val) rs142199482 0.00026
NM_080680.3(COL11A2):c.5087C>T (p.Thr1696Met) rs570708095 0.00026
NM_201384.3(PLEC):c.8762C>T (p.Thr2921Met) rs191036710 0.00026
NM_201384.3(PLEC):c.8845C>T (p.Arg2949Trp) rs202241157 0.00026
NM_201384.3(PLEC):c.9475G>A (p.Ala3159Thr) rs201030020 0.00026
NM_000052.7(ATP7A):c.2131G>A (p.Val711Ile) rs782268170 0.00025
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967 0.00025
NM_000081.4(LYST):c.4578T>A (p.Asn1526Lys) rs117609949 0.00025
NM_001083614.2(EARS2):c.328G>A (p.Gly110Ser) rs201842633 0.00025
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly) rs144078282 0.00025
NM_001267550.2(TTN):c.100389C>T (p.Tyr33463=) rs368984050 0.00025
NM_001267550.2(TTN):c.19547A>T (p.Lys6516Met) rs199796249 0.00025
NM_001267550.2(TTN):c.46928A>G (p.His15643Arg) rs368502650 0.00025
NM_001267550.2(TTN):c.84923A>C (p.Gln28308Pro) rs201674674 0.00025
NM_001355436.2(SPTB):c.982C>T (p.Arg328Cys) rs143293179 0.00025
NM_001458.5(FLNC):c.2068T>C (p.Phe690Leu) rs200943714 0.00025
NM_001684.5(ATP2B4):c.1996G>A (p.Ala666Thr) rs138521935 0.00025
NM_001918.5(DBT):c.901C>T (p.Arg301Cys) rs185492864 0.00025
NM_004370.6(COL12A1):c.6922C>G (p.Pro2308Ala) rs55997127 0.00025
NM_005228.5(EGFR):c.2024G>A (p.Arg675Gln) rs150423237 0.00025
NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn) rs199589947 0.00025
NM_016146.6(TRAPPC4):c.454+3A>G rs375776811 0.00025
NM_021942.6(TRAPPC11):c.2530C>A (p.Arg844Ser) rs149626892 0.00025
NM_022124.6(CDH23):c.4892C>T (p.Ala1631Val) rs370762269 0.00025
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg) rs121908641 0.00025
NM_170707.4(LMNA):c.1634G>A (p.Arg545His) rs142191737 0.00025
NM_201384.3(PLEC):c.5632C>T (p.Arg1878Trp) rs782312793 0.00025
NM_000023.4(SGCA):c.680C>G (p.Pro227Arg) rs201131924 0.00024
NM_000091.5(COL4A3):c.221C>T (p.Pro74Leu) rs373975901 0.00024
NM_000237.3(LPL):c.644G>A (p.Gly215Glu) rs118204057 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_000275.3(OCA2):c.1320G>C (p.Leu440Phe) rs1800408 0.00024
NM_000275.3(OCA2):c.29G>A (p.Arg10Gln) rs199752361 0.00024
NM_000342.4(SLC4A1):c.1972G>A (p.Glu658Lys) rs75731670 0.00024
NM_000372.5(TYR):c.454C>T (p.Pro152Ser) rs145513733 0.00024
NM_000399.5(EGR2):c.192G>C (p.Met64Ile) rs146631014 0.00024
NM_000540.3(RYR1):c.7026C>T (p.Asn2342=) rs202061237 0.00024
NM_001040142.2(SCN2A):c.952G>A (p.Glu318Lys) rs149987700 0.00024
NM_001077365.2(POMT1):c.1598C>T (p.Ala533Val) rs199682341 0.00024
NM_001080442.3(SLC38A8):c.848A>C (p.Asp283Ala) rs139373929 0.00024
NM_001126108.2(SLC12A3):c.2856+1G>T rs199974259 0.00024
NM_001142864.4(PIEZO1):c.6154G>A (p.Val2052Ile) rs564395221 0.00024
NM_001267550.2(TTN):c.1050C>T (p.Tyr350=) rs375448572 0.00024
NM_001267550.2(TTN):c.33732G>A (p.Pro11244=) rs190604150 0.00024
NM_001267550.2(TTN):c.62098A>G (p.Asn20700Asp) rs151193056 0.00024
NM_001267550.2(TTN):c.64811G>A (p.Arg21604Gln) rs188996850 0.00024
NM_001267550.2(TTN):c.88972A>G (p.Ile29658Val) rs200193877 0.00024
NM_001267550.2(TTN):c.94633C>T (p.Arg31545Cys) rs202187398 0.00024
NM_001375524.1(TRRAP):c.634-3C>T rs113339948 0.00024
NM_001457.4(FLNB):c.4062-13C>G rs143371162 0.00024
NM_001458.5(FLNC):c.5221G>A (p.Glu1741Lys) rs200792813 0.00024
NM_001848.3(COL6A1):c.2045G>A (p.Arg682Gln) rs148962954 0.00024
NM_001849.4(COL6A2):c.1605C>T (p.Pro535=) rs377476546 0.00024
NM_001849.4(COL6A2):c.628G>A (p.Glu210Lys) rs113017484 0.00024
NM_001854.4(COL11A1):c.4718C>T (p.Ser1573Leu) rs143531636 0.00024
NM_003036.4(SKI):c.1321C>T (p.Arg441Trp) rs201613746 0.00024
NM_004366.6(CLCN2):c.2062C>T (p.Arg688Trp) rs368380934 0.00024
NM_005419.4(STAT2):c.250C>A (p.Gln84Lys) rs150901100 0.00024
NM_005529.7(HSPG2):c.11853A>G (p.Leu3951=) rs138957986 0.00024
NM_005529.7(HSPG2):c.9060G>A (p.Arg3020=) rs372508479 0.00024
NM_005629.4(SLC6A8):c.1778A>G (p.His593Arg) rs782560726 0.00024
NM_007347.5(AP4E1):c.1624A>G (p.Met542Val) rs542940704 0.00024
NM_014946.4(SPAST):c.1625A>G (p.Asp542Gly) rs142053576 0.00024
NM_020549.5(CHAT):c.858C>T (p.Thr286=) rs200423662 0.00024
NM_032634.4(PIGO):c.2635G>A (p.Val879Ile) rs139155910 0.00024
NM_133433.4(NIPBL):c.5101T>C (p.Ser1701Pro) rs139819353 0.00024
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val) rs137852849 0.00024
NM_182961.4(SYNE1):c.16295G>A (p.Arg5432Gln) rs200812806 0.00024
NM_182961.4(SYNE1):c.22235G>A (p.Arg7412His) rs200135486 0.00024
NM_201384.3(PLEC):c.12837C>T (p.Pro4279=) rs759030267 0.00024
NM_201384.3(PLEC):c.7061C>T (p.Ala2354Val) rs370003608 0.00024
NM_201384.3(PLEC):c.7339C>T (p.Arg2447Cys) rs781936848 0.00024
NM_000037.4(ANK1):c.3298G>A (p.Val1100Ile) rs147741842 0.00023
NM_000199.5(SGSH):c.780C>T (p.Ala260=) rs530964770 0.00023
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu) rs121918167 0.00023
NM_000277.3(PAH):c.165T>G (p.Phe55Leu) rs199475598 0.00023
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130 0.00023
NM_000369.5(TSHR):c.1349G>A (p.Arg450His) rs189261858 0.00023
NM_000426.4(LAMA2):c.6002G>A (p.Arg2001Lys) rs151009169 0.00023
NM_000540.3(RYR1):c.13477C>G (p.Pro4493Ala) rs149455643 0.00023
NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln) rs199632397 0.00023
NM_001267550.2(TTN):c.23387G>A (p.Arg7796Gln) rs267599059 0.00023
NM_001267550.2(TTN):c.6584A>G (p.Glu2195Gly) rs202032875 0.00023
NM_001267550.2(TTN):c.94553T>C (p.Val31518Ala) rs377016580 0.00023
NM_001267550.2(TTN):c.95722T>C (p.Tyr31908His) rs199781261 0.00023
NM_001267550.2(TTN):c.98726T>C (p.Val32909Ala) rs368877793 0.00023
NM_004370.6(COL12A1):c.6448T>C (p.Tyr2150His) rs200450866 0.00023
NM_004752.4(GCM2):c.1395C>T (p.His465=) rs139538731 0.00023
NM_005101.4(ISG15):c.296G>A (p.Arg99Gln) rs374404353 0.00023
NM_005529.7(HSPG2):c.8025+20C>T rs146363738 0.00023
NM_014159.7(SETD2):c.19C>T (p.Gln7Ter) rs541943893 0.00023
NM_014270.5(SLC7A9):c.368C>T (p.Thr123Met) rs79987078 0.00023
NM_015559.3(SETBP1):c.575A>G (p.His192Arg) rs569466922 0.00023
NM_020549.5(CHAT):c.754C>T (p.His252Tyr) rs376994468 0.00023
NM_030777.4(SLC2A10):c.317C>G (p.Ala106Gly) rs144095826 0.00023
NM_182914.3(SYNE2):c.13792G>A (p.Glu4598Lys) rs144702281 0.00023
NM_000104.4(CYP1B1):c.171G>A (p.Trp57Ter) rs72549387 0.00022
NM_000252.3(MTM1):c.1052A>G (p.Lys351Arg) rs150430628 0.00022
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00022
NM_000369.5(TSHR):c.202C>T (p.Pro68Ser) rs142063461 0.00022
NM_000540.3(RYR1):c.548C>T (p.Thr183Ile) rs150038701 0.00022
NM_001083961.2(WDR62):c.1576G>A (p.Glu526Lys) rs147875659 0.00022
NM_001142800.2(EYS):c.3443+1G>T rs373441420 0.00022
NM_001164508.2(NEB):c.12718G>A (p.Ala4240Thr) rs561736266 0.00022
NM_001164508.2(NEB):c.23278A>G (p.Asn7760Asp) rs201189784 0.00022
NM_001164508.2(NEB):c.3443C>T (p.Ala1148Val) rs200637566 0.00022
NM_001267550.2(TTN):c.10188A>G (p.Glu3396=) rs183336802 0.00022
NM_001267550.2(TTN):c.104519G>A (p.Arg34840Gln) rs199710082 0.00022
NM_001267550.2(TTN):c.107230A>G (p.Ile35744Val) rs142336788 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.27625A>G (p.Lys9209Glu) rs148355969 0.00022
NM_001267550.2(TTN):c.28829G>A (p.Ser9610Asn) rs371759532 0.00022
NM_001267550.2(TTN):c.87448A>T (p.Ile29150Leu) rs189030321 0.00022
NM_001267550.2(TTN):c.96015C>T (p.Pro32005=) rs183620684 0.00022
NM_001267550.2(TTN):c.99991T>C (p.Cys33331Arg) rs56061641 0.00022
NM_001355436.2(SPTB):c.1027G>A (p.Ala343Thr) rs149837193 0.00022
NM_001918.5(DBT):c.670G>T (p.Glu224Ter) rs74103423 0.00022
NM_002230.4(JUP):c.2207C>T (p.Pro736Leu) rs151178348 0.00022
NM_002471.4(MYH6):c.4505G>A (p.Arg1502Gln) rs199936506 0.00022
NM_003500.4(ACOX2):c.673C>T (p.Arg225Trp) rs150832314 0.00022
NM_004006.3(DMD):c.8138A>G (p.Asn2713Ser) rs758633794 0.00022
NM_004168.4(SDHA):c.-2A>T rs763680697 0.00022
NM_005609.4(PYGM):c.2177+7G>A rs201366697 0.00022
NM_006231.4(POLE):c.1184G>A (p.Gly395Glu) rs546499094 0.00022
NM_006516.4(SLC2A1):c.805C>T (p.Arg269Cys) rs200247956 0.00022
NM_014159.7(SETD2):c.2096A>G (p.Asp699Gly) rs368132877 0.00022
NM_015340.4(LARS2):c.1947C>A (p.Asp649Glu) rs143155251 0.00022
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg) rs137852988 0.00022
NM_152743.4(BRAT1):c.294dup (p.Leu99fs) rs776913277 0.00022
NM_182914.3(SYNE2):c.7708G>A (p.Glu2570Lys) rs376507352 0.00022
NM_183235.3(RAB27A):c.560G>A (p.Arg187Gln) rs182849552 0.00022
NM_198525.3(KIF7):c.3784C>T (p.Arg1262Trp) rs142598777 0.00022
NM_201384.3(PLEC):c.3958C>T (p.Arg1320Cys) rs372256096 0.00022
NM_000037.4(ANK1):c.499G>C (p.Gly167Arg) rs201024919 0.00021
NM_000069.3(CACNA1S):c.743C>T (p.Thr248Met) rs200665694 0.00021
NM_000081.4(LYST):c.3898A>G (p.Ile1300Val) rs199855658 0.00021
NM_000092.5(COL4A4):c.865C>T (p.Arg289Cys) rs371904688 0.00021
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636 0.00021
NM_000256.3(MYBPC3):c.74G>A (p.Ser25Asn) rs371140684 0.00021
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987 0.00021
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_000334.4(SCN4A):c.2704G>A (p.Gly902Ser) rs200517944 0.00021
NM_000359.3(TGM1):c.944G>T (p.Arg315Leu) rs143473912 0.00021
NM_000369.5(TSHR):c.1637G>A (p.Trp546Ter) rs121908866 0.00021
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met) rs150326995 0.00021
NM_000520.6(HEXA):c.1073+1G>A rs76173977 0.00021
NM_001130987.2(DYSF):c.4106A>G (p.Asn1369Ser) rs139529811 0.00021
NM_001142864.4(PIEZO1):c.1051C>T (p.Arg351Trp) rs959344565 0.00021
NM_001145860.2(POP1):c.1537C>T (p.Arg513Ter) rs149102421 0.00021
NM_001267550.2(TTN):c.17116G>A (p.Glu5706Lys) rs376593556 0.00021
NM_001267550.2(TTN):c.31645A>G (p.Ile10549Val) rs376613199 0.00021
NM_001267550.2(TTN):c.39301G>A (p.Glu13101Lys) rs201035457 0.00021
NM_001267550.2(TTN):c.50850C>A (p.Asp16950Glu) rs200700386 0.00021
NM_001267550.2(TTN):c.5464A>C (p.Met1822Leu) rs201581947 0.00021
NM_001267550.2(TTN):c.55306G>A (p.Glu18436Lys) rs201510986 0.00021
NM_001267550.2(TTN):c.62567A>G (p.Tyr20856Cys) rs373867080 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.88984G>A (p.Gly29662Ser) rs187460377 0.00021
NM_001267550.2(TTN):c.93803A>C (p.Lys31268Thr) rs200766837 0.00021
NM_001267550.2(TTN):c.98826C>G (p.Asp32942Glu) rs190967471 0.00021
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs) rs397515540 0.00021
NM_001458.5(FLNC):c.7499G>A (p.Ser2500Asn) rs371244800 0.00021
NM_001845.6(COL4A1):c.329T>C (p.Ile110Thr) rs138269346 0.00021
NM_002578.5(PAK3):c.1579A>G (p.Ser527Gly) rs200474454 0.00021
NM_004369.4(COL6A3):c.3040A>G (p.Lys1014Glu) rs114284669 0.00021
NM_004370.6(COL12A1):c.5839C>A (p.Pro1947Thr) rs191233787 0.00021
NM_005996.4(TBX3):c.700A>G (p.Ile234Val) rs117465019 0.00021
NM_006005.3(WFS1):c.2563T>C (p.Ser855Pro) rs141833472 0.00021
NM_012330.4(KAT6B):c.4211G>A (p.Arg1404His) rs563033366 0.00021
NM_012452.3(TNFRSF13B):c.236A>G (p.Tyr79Cys) rs72553876 0.00021
NM_014244.5(ADAMTS2):c.2893G>A (p.Glu965Lys) rs144138766 0.00021
NM_017780.4(CHD7):c.7085G>A (p.Ser2362Asn) rs139876661 0.00021
NM_022124.6(CDH23):c.2236G>A (p.Val746Ile) rs550384315 0.00021
NM_080916.3(DGUOK):c.462T>A (p.Asn154Lys) rs144181978 0.00021
NM_182961.4(SYNE1):c.3850C>T (p.Arg1284Trp) rs140780725 0.00021
NM_201384.3(PLEC):c.6605A>G (p.Lys2202Arg) rs201928401 0.00021
NM_201384.3(PLEC):c.8041G>A (p.Glu2681Lys) rs200128670 0.00021
NM_201384.3(PLEC):c.885G>A (p.Met295Ile) rs201041690 0.00021
NM_000142.5(FGFR3):c.1550A>G (p.Lys517Arg) rs139707740 0.00020
NM_000218.3(KCNQ1):c.1352G>A (p.Arg451Gln) rs199472781 0.00020
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln) rs63750361 0.00020
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679 0.00020
NM_000426.4(LAMA2):c.5558T>G (p.Ile1853Arg) rs141911213 0.00020
NM_000426.4(LAMA2):c.8988+15T>C rs201041465 0.00020
NM_000435.3(NOTCH3):c.2437G>A (p.Glu813Lys) rs375873637 0.00020
NM_000540.3(RYR1):c.2822C>T (p.Ala941Val) rs748568687 0.00020
NM_000642.3(AGL):c.1537A>T (p.Thr513Ser) rs143987049 0.00020
NM_001164508.2(NEB):c.6381T>A (p.Asp2127Glu) rs368302286 0.00020
NM_001267550.2(TTN):c.21656C>T (p.Ser7219Phe) rs201029552 0.00020
NM_001267550.2(TTN):c.30389G>A (p.Arg10130His) rs373355159 0.00020
NM_001267550.2(TTN):c.31114G>C (p.Glu10372Gln) rs200831060 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.80555G>A (p.Arg26852His) rs202149931 0.00020
NM_001267550.2(TTN):c.84203G>C (p.Ser28068Thr) rs72648219 0.00020
NM_001267550.2(TTN):c.93244G>A (p.Glu31082Lys) rs199663613 0.00020
NM_001289808.2(CRYAB):c.116C>T (p.Pro39Leu) rs149787233 0.00020
NM_001355436.2(SPTB):c.6484G>A (p.Glu2162Lys) rs375816870 0.00020
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401 0.00020
NM_001458.5(FLNC):c.2128G>A (p.Asp710Asn) rs370035829 0.00020
NM_017433.5(MYO3A):c.4681C>T (p.Arg1561Ter) rs138593211 0.00020
NM_020451.3(SELENON):c.103G>C (p.Gly35Arg) rs398124359 0.00020
NM_021625.5(TRPV4):c.1378C>T (p.Arg460Trp) rs34227547 0.00020
NM_152618.3(BBS12):c.1502C>T (p.Thr501Met) rs138011813 0.00020
NM_182914.3(SYNE2):c.17723G>A (p.Arg5908His) rs538344879 0.00020
NM_182961.4(SYNE1):c.15568C>G (p.Gln5190Glu) rs138368397 0.00020
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936 0.00019
NM_000132.4(F8):c.1018G>A (p.Glu340Lys) rs781954986 0.00019
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855 0.00019
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp) rs121434369 0.00019
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys) rs121913059 0.00019
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe) rs150518260 0.00019
NM_000337.6(SGCD):c.848A>G (p.Gln283Arg) rs397516338 0.00019
NM_000346.4(SOX9):c.739C>A (p.Pro247Thr) rs566929141 0.00019
NM_000372.5(TYR):c.823G>T (p.Val275Phe) rs104894314 0.00019
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096 0.00019
NM_000426.4(LAMA2):c.2325C>A (p.Asn775Lys) rs139351727 0.00019
NM_000540.3(RYR1):c.2679C>G (p.Gly893=) rs765657226 0.00019
NM_000540.3(RYR1):c.89A>T (p.Glu30Val) rs145771708 0.00019
NM_001002294.3(FMO3):c.1474C>T (p.Arg492Trp) rs72549334 0.00019
NM_001081.4(CUBN):c.5428C>T (p.Arg1810Ter) rs143944436 0.00019
NM_001130438.3(SPTAN1):c.7396G>A (p.Asp2466Asn) rs367776636 0.00019
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln) rs115407852 0.00019
NM_001142864.4(PIEZO1):c.3778G>A (p.Val1260Ile) rs776788949 0.00019
NM_001142864.4(PIEZO1):c.3922C>G (p.Leu1308Val) rs532112751 0.00019
NM_001199799.2(ILDR1):c.772C>T (p.Gln258Ter) rs142746163 0.00019
NM_001243177.4(ALDOA):c.668A>G (p.Asn223Ser) rs142957871 0.00019
NM_001267550.2(TTN):c.100295G>A (p.Arg33432His) rs374876608 0.00019
NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln) rs368321767 0.00019
NM_001267550.2(TTN):c.105128G>A (p.Arg35043His) rs370137295 0.00019
NM_001267550.2(TTN):c.14486A>C (p.Gln4829Pro) rs375177753 0.00019
NM_001267550.2(TTN):c.17871A>T (p.Gln5957His) rs181067357 0.00019
NM_001267550.2(TTN):c.23455G>C (p.Glu7819Gln) rs201420077 0.00019
NM_001267550.2(TTN):c.3133G>A (p.Val1045Met) rs72647868 0.00019
NM_001267550.2(TTN):c.3170T>C (p.Val1057Ala) rs145940356 0.00019
NM_001267550.2(TTN):c.33856G>A (p.Glu11286Lys) rs376874956 0.00019
NM_001267550.2(TTN):c.52826A>T (p.Gln17609Leu) rs368820294 0.00019
NM_001267550.2(TTN):c.55379C>T (p.Thr18460Ile) rs372778818 0.00019
NM_001267550.2(TTN):c.5645G>A (p.Arg1882His) rs374605213 0.00019
NM_001267550.2(TTN):c.58576G>A (p.Val19526Ile) rs377682563 0.00019
NM_001267550.2(TTN):c.78064G>A (p.Val26022Ile) rs374764110 0.00019
NM_001267550.2(TTN):c.7957T>C (p.Leu2653=) rs201837864 0.00019
NM_001267550.2(TTN):c.86723A>G (p.Asn28908Ser) rs377612718 0.00019
NM_001267550.2(TTN):c.89314G>A (p.Glu29772Lys) rs200503016 0.00019
NM_001267550.2(TTN):c.94623C>T (p.Tyr31541=) rs376539252 0.00019
NM_001267550.2(TTN):c.98385T>G (p.Ser32795Arg) rs373396567 0.00019
NM_001267550.2(TTN):c.99560A>C (p.Lys33187Thr) rs560306385 0.00019
NM_001360.3(DHCR7):c.99-5C>T rs372886043 0.00019
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys) rs200945460 0.00019
NM_001384732.1(CPLANE1):c.7883A>T (p.Glu2628Val) rs200930248 0.00019
NM_001458.5(FLNC):c.1924G>A (p.Val642Ile) rs369387744 0.00019
NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu) rs142770543 0.00019
NM_001927.4(DES):c.635G>A (p.Arg212Gln) rs144261171 0.00019
NM_002206.3(ITGA7):c.1317C>T (p.Phe439=) rs200714716 0.00019
NM_003126.4(SPTA1):c.620T>C (p.Leu207Pro) rs121918643 0.00019
NM_004006.3(DMD):c.3379C>G (p.Leu1127Val) rs141887693 0.00019
NM_005529.7(HSPG2):c.11482G>A (p.Glu3828Lys) rs200997062 0.00019
NM_005529.7(HSPG2):c.8554G>A (p.Gly2852Arg) rs199942544 0.00019
NM_012330.4(KAT6B):c.1512C>A (p.Ser504Arg) rs769903041 0.00019
NM_014384.3(ACAD8):c.958G>A (p.Ala320Thr) rs200620279 0.00019
NM_014639.4(SKIC3):c.4507C>T (p.Arg1503Cys) rs200067423 0.00019
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu) rs201312386 0.00019
NM_015559.3(SETBP1):c.4307C>T (p.Ala1436Val) rs373986368 0.00019
NM_017534.6(MYH2):c.4304T>C (p.Met1435Thr) rs139691540 0.00019
NM_017780.4(CHD7):c.8366C>T (p.Ala2789Val) rs376934539 0.00019
NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter) rs199952377 0.00019
NM_020822.3(KCNT1):c.474G>A (p.Ser158=) rs139076605 0.00019
NM_020964.3(EPG5):c.5631T>C (p.Leu1877=) rs376297358 0.00019
NM_021828.5(HPSE2):c.1465_1466del (p.Asn489fs) rs397515338 0.00019
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln) rs202160208 0.00019
NM_182914.3(SYNE2):c.2477A>G (p.Asn826Ser) rs372150492 0.00019
NM_182914.3(SYNE2):c.9315A>C (p.Leu3105Phe) rs201466326 0.00019
NM_182961.4(SYNE1):c.10475G>A (p.Arg3492His) rs148522587 0.00019
NM_182961.4(SYNE1):c.24642+3A>G rs117346210 0.00019
NM_201384.3(PLEC):c.5633G>A (p.Arg1878Gln) rs373617951 0.00019
NM_201384.3(PLEC):c.8644C>T (p.Leu2882=) rs376081492 0.00019
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu) rs201709513 0.00019
NM_206937.2(LIG4):c.712A>G (p.Ile238Val) rs149012859 0.00019
NM_000159.4(GCDH):c.572T>C (p.Met191Thr) rs149120354 0.00018
NM_000219.6(KCNE1):c.118G>A (p.Gly40Ser) rs778439872 0.00018
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His) rs121909552 0.00018
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_000540.3(RYR1):c.4292C>T (p.Thr1431Met) rs191656849 0.00018
NM_000540.3(RYR1):c.4911G>A (p.Ala1637=) rs370350821 0.00018
NM_001035.3(RYR2):c.5294C>G (p.Ser1765Cys) rs564806219 0.00018
NM_001130987.2(DYSF):c.772G>A (p.Val258Met) rs150345121 0.00018
NM_001164508.2(NEB):c.23377A>C (p.Met7793Leu) rs199957886 0.00018
NM_001164508.2(NEB):c.9352A>T (p.Thr3118Ser) rs543100735 0.00018
NM_001267550.2(TTN):c.100432T>G (p.Trp33478Gly) rs372304158 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.43577G>A (p.Arg14526Gln) rs373491468 0.00018
NM_001267550.2(TTN):c.55205T>G (p.Ile18402Ser) rs776899398 0.00018
NM_001267550.2(TTN):c.55512C>T (p.Asp18504=) rs377164046 0.00018
NM_003060.4(SLC22A5):c.695C>T (p.Thr232Met) rs114269482 0.00018
NM_003070.5(SMARCA2):c.4516A>T (p.Ile1506Phe) rs147135956 0.00018
NM_005045.4(RELN):c.8863C>T (p.Arg2955Cys) rs114501042 0.00018
NM_005373.3(MPL):c.79+2T>A rs146249964 0.00018
NM_005592.4(MUSK):c.2368G>A (p.Val790Met) rs199476083 0.00018
NM_152564.5(VPS13B):c.9369C>T (p.Cys3123=) rs745668942 0.00018
NM_153700.2(STRC):c.4027C>T (p.Gln1343Ter) rs144948296 0.00018
NM_182914.3(SYNE2):c.19034G>A (p.Arg6345Gln) rs141882853 0.00018
NM_182961.4(SYNE1):c.15863G>C (p.Gly5288Ala) rs201313856 0.00018
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) rs121918661 0.00018
NM_201384.3(PLEC):c.13247C>T (p.Thr4416Met) rs201855218 0.00018
NM_201384.3(PLEC):c.6416G>A (p.Arg2139His) rs372652727 0.00018
NM_000038.6(APC):c.3479C>A (p.Thr1160Lys) rs201004111 0.00017
NM_000090.4(COL3A1):c.560C>T (p.Thr187Ile) rs371583734 0.00017
NM_000135.4(FANCA):c.308C>T (p.Ser103Leu) rs147176389 0.00017
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln) rs149968110 0.00017
NM_000271.5(NPC1):c.2524T>C (p.Phe842Leu) rs190298665 0.00017
NM_000342.4(SLC4A1):c.277G>T (p.Ala93Ser) rs145054469 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_001077365.2(POMT1):c.586G>A (p.Ala196Thr) rs199498900 0.00017
NM_001148.6(ANK2):c.7183A>C (p.Thr2395Pro) rs201693280 0.00017
NM_001164508.2(NEB):c.24096T>G (p.Asn8032Lys) rs770023115 0.00017
NM_001171.6(ABCC6):c.2787+1G>T rs72664209 0.00017
NM_001267550.2(TTN):c.101708G>A (p.Arg33903His) rs72629782 0.00017
NM_001267550.2(TTN):c.106349C>G (p.Thr35450Ser) rs371022420 0.00017
NM_001267550.2(TTN):c.14533G>A (p.Asp4845Asn) rs373378672 0.00017
NM_001267550.2(TTN):c.22439A>C (p.Gln7480Pro) rs201065037 0.00017
NM_001267550.2(TTN):c.30513A>T (p.Glu10171Asp) rs577066020 0.00017
NM_001267550.2(TTN):c.40352C>A (p.Pro13451His) rs370048456 0.00017
NM_001267550.2(TTN):c.50212G>A (p.Glu16738Lys) rs148018042 0.00017
NM_001267550.2(TTN):c.51683C>T (p.Ala17228Val) rs370644359 0.00017
NM_001267550.2(TTN):c.54718G>A (p.Val18240Ile) rs375141729 0.00017
NM_001267550.2(TTN):c.61556G>A (p.Arg20519Gln) rs727504191 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_001351132.2(PEX5):c.316+3G>A rs200776790 0.00017
NM_001845.6(COL4A1):c.3634A>T (p.Met1212Leu) rs199557190 0.00017
NM_001848.3(COL6A1):c.2091G>A (p.Met697Ile) rs372750707 0.00017
NM_004006.3(DMD):c.2858C>T (p.Thr953Ile) rs142133195 0.00017
NM_005502.4(ABCA1):c.4250G>A (p.Arg1417His) rs116034780 0.00017
NM_006005.3(WFS1):c.1774C>G (p.Leu592Val) rs759136937 0.00017
NM_006790.3(MYOT):c.1364G>A (p.Arg455Gln) rs141801816 0.00017
NM_014141.6(CNTNAP2):c.515T>C (p.Ile172Thr) rs201326295 0.00017
NM_014270.5(SLC7A9):c.313G>A (p.Gly105Arg) rs121908480 0.00017
NM_015506.3(MMACHC):c.617G>A (p.Arg206Gln) rs371753672 0.00017
NM_016035.5(COQ4):c.718C>T (p.Arg240Cys) rs143441644 0.00017
NM_018834.6(MATR3):c.1132G>A (p.Ala378Thr) rs201075828 0.00017
NM_033419.5(PGAP3):c.320C>T (p.Ser107Leu) rs202146344 0.00017
NM_080680.3(COL11A2):c.1002G>C (p.Glu334Asp) rs34415548 0.00017