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:

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
23089 14851 19 3724 4659 62 1759 9601

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 protective other
pathogenic 19 1600 224 10 3 0 27 0 4
likely pathogenic 1994 0 531 21 4 1 7 1 3
uncertain significance 435 754 0 3919 682 6 4 2 9
likely benign 2 2 376 0 104 0 0 0 0
benign 0 1 20 26 0 1 0 0 0

Submitter to submitter summary #

Total submitters: 455
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
Labcorp Genetics (formerly Invitae), Labcorp 0 6161 3 1014 1483 0 329 2828
GeneDx 0 6247 0 563 1629 0 295 2486
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2466 0 267 506 0 94 867
CeGaT Center for Human Genetics Tuebingen 0 2162 0 213 502 0 102 816
Ambry Genetics 0 2022 0 81 683 0 48 810
PreventionGenetics, part of Exact Sciences 0 1846 0 141 506 0 67 714
Eurofins Ntd Llc (ga) 0 3737 0 161 238 5 126 527
Fulgent Genetics, Fulgent Genetics 0 1904 0 311 44 0 96 451
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 197 0 18 408 0 9 435
Mayo Clinic Laboratories, Mayo Clinic 0 2027 0 114 233 0 55 400
Baylor Genetics 0 1263 0 313 3 0 79 393
OMIM 0 791 12 247 3 18 112 390
Counsyl 0 372 0 289 2 0 63 354
Natera, Inc. 0 1240 0 244 55 0 54 353
Athena Diagnostics 0 1402 0 103 215 0 36 352
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1396 0 121 159 0 53 333
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 912 1 52 174 0 38 265
Illumina Laboratory Services, Illumina 0 955 0 96 138 0 19 252
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 312 0 110 11 0 57 178
3billion 0 441 0 110 25 0 35 170
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 459 0 47 89 0 20 156
Genome-Nilou Lab 0 490 0 99 42 0 15 156
Color Diagnostics, LLC DBA Color Health 0 555 0 28 79 0 39 146
Department of Pathology and Laboratory Medicine, Sinai Health System 0 488 0 60 34 0 48 142
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 432 0 69 51 0 19 139
Genetic Services Laboratory, University of Chicago 0 426 0 55 36 0 29 120
Mendelics 0 195 0 51 38 0 29 118
Quest Diagnostics Nichols Institute San Juan Capistrano 0 606 0 59 45 0 13 116
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 340 0 68 4 0 25 97
Variantyx, Inc. 0 242 0 80 0 0 15 95
All of Us Research Program, National Institutes of Health 0 540 0 16 27 0 44 87
Clinical Genetics, Academic Medical Center 0 279 0 20 59 0 7 86
Neuberg Centre For Genomic Medicine, NCGM 0 270 0 64 0 0 21 85
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 305 0 25 48 0 10 83
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 209 0 22 50 0 10 82
LDLR-LOVD, British Heart Foundation 0 53 0 65 5 0 10 80
Myriad Genetics, Inc. 0 193 0 53 13 0 11 77
Dasa 0 290 0 60 6 0 10 76
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 75 0 25 40 0 9 74
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 163 0 40 0 0 28 68
Institute of Human Genetics, University of Leipzig Medical Center 0 196 0 45 5 0 15 65
Breakthrough Genomics, Breakthrough Genomics 0 300 0 3 56 0 3 61
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 235 0 22 27 0 10 59
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 213 0 47 0 0 11 58
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 230 0 44 0 0 10 54
AiLife Diagnostics, AiLife Diagnostics 0 153 0 35 1 0 15 51
Robarts Research Institute, Western University 0 14 0 44 2 0 4 50
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 28 0 31 3 0 15 49
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 133 0 8 35 0 6 49
Juno Genomics, Hangzhou Juno Genomics, Inc 0 162 0 34 0 0 11 45
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 154 0 29 5 0 9 42
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 58 0 28 0 0 12 40
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 174 0 2 36 0 1 39
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking C/o Practice Pomarino 0 11 0 9 2 0 28 39
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 168 0 28 0 0 12 39
Clinical Genetics Laboratory, Skane University Hospital Lund 0 327 0 28 1 0 9 38
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 76 0 20 4 0 15 38
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 63 0 29 4 0 5 38
Institute of Human Genetics Munich, TUM University Hospital 0 88 0 30 0 0 7 37
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 0 146 0 25 0 0 11 36
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova 0 48 0 19 0 0 17 36
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 89 0 21 1 0 13 34
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 77 0 21 6 0 7 34
MGZ Medical Genetics Center 0 106 0 25 0 0 7 32
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 103 0 14 12 0 5 31
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 103 0 20 1 0 10 31
ClinPGx 0 0 0 0 0 31 0 31
Clinical Genetics and Genomics, Karolinska University Hospital 0 147 0 26 0 0 5 31
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 121 0 11 12 0 8 31
Dubai Health Genomic Medicine Center, Dubai Health 0 77 0 8 11 0 9 28
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation 0 19 0 25 1 0 2 28
Fundacion Hipercolesterolemia Familiar 0 27 0 19 0 0 8 27
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 116 0 15 5 0 7 27
Genetics and Molecular Pathology, SA Pathology 0 85 0 19 2 0 4 25
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 66 0 21 0 0 3 24
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 44 0 21 2 0 3 24
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 57 0 16 0 0 8 24
NIHR Bioresource Rare Diseases, University of Cambridge 0 14 0 17 0 0 7 24
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge 0 25 0 18 0 0 5 23
Undiagnosed Diseases Network, NIH 0 25 0 14 0 0 10 23
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 26 0 19 0 0 3 22
Kariminejad - Najmabadi Pathology & Genetics Center 0 60 0 16 1 0 5 22
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 115 0 17 0 0 5 22
Genomics England Pilot Project, Genomics England 0 23 0 20 0 0 1 21
Centre of Medical Genetics, University Hospital Muenster 0 51 0 13 0 0 7 20
Leiden Open Variation Database 0 38 0 12 2 0 6 20
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 43 0 11 1 0 8 20
Iberoamerican FH Network 0 16 0 12 0 0 7 19
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 23 0 13 0 0 6 19
New York Genome Center 0 115 0 12 1 0 7 19
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen 0 43 0 6 5 0 7 18
Daryl Scott Lab, Baylor College of Medicine 0 79 0 13 1 0 5 18
Dunham Lab, University of Washington 0 26 0 14 0 0 4 18
Solve-RD Consortium 0 3 0 17 0 0 1 18
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 46 0 13 1 0 3 17
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 11 0 14 0 0 3 17
NHS Central & South Genomic Laboratory Hub 0 52 0 11 0 0 6 17
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 53 0 13 1 0 3 17
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia 0 35 0 15 0 0 1 16
SIB Swiss Institute of Bioinformatics 0 20 0 15 0 0 1 16
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 54 0 13 0 0 2 15
Reproductive Health Research and Development, BGI Genomics 0 30 1 9 0 0 5 15
Blueprint Genetics 0 75 0 6 3 0 5 14
CSER _CC_NCGL, University of Washington 0 20 0 3 6 0 5 14
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 90 0 10 1 0 3 14
ClinGen ACADVL Variant Curation Expert Panel, ClinGen 0 23 0 10 1 0 3 14
Department of Human Genetics, Hannover Medical School 0 50 0 14 0 0 0 14
Gharavi Laboratory, Columbia University 0 21 0 5 2 0 7 14
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 41 0 7 0 0 6 13
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 95 0 5 5 0 2 12
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 11 0 9 1 0 2 12
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 49 0 8 4 0 0 12
Molecular Genetics, Royal Melbourne Hospital 0 38 0 9 2 0 1 12
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 28 0 9 0 0 3 12
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 46 0 10 0 0 1 11
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel 0 61 0 9 0 0 2 11
Division of Human Genetics, Children's Hospital of Philadelphia 0 29 0 9 0 0 2 11
Johns Hopkins Genomics, Johns Hopkins University 0 45 0 6 4 0 1 11
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 20 0 5 2 0 4 10
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 4 0 9 0 0 2 10
Genomics and Molecular Medicine Service, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 36 0 4 3 0 2 9
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 20 0 7 0 0 2 9
Lifecell International Pvt. Ltd 0 34 0 8 0 0 1 9
Molecular Biology Laboratory, Fundació Puigvert 0 5 0 7 0 0 2 9
University of Washington Center for Mendelian Genomics, University of Washington 0 3 0 7 0 0 2 9
Clinical Genomics Laboratory, Stanford Medicine 0 21 0 7 1 0 0 8
GeneReviews 0 283 0 7 0 0 1 8
Hadassah Hebrew University Medical Center 0 13 0 7 0 0 1 8
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II 0 13 0 8 0 0 0 8
PROSPAX: an integrated multimodal progression chart in spastic ataxias, Center for Neurology; Hertie-Institute for Clinical Brain Research 0 4 0 5 0 0 3 8
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 30 0 7 1 0 0 8
Sema4, Sema4 0 13 0 3 5 0 0 8
SingHealth Duke-NUS Institute of Precision Medicine 0 7 0 5 1 0 2 8
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 23 0 6 0 0 2 8
ClinGen PAH Variant Curation Expert Panel 0 57 0 6 0 0 1 7
Clinical Biochemistry Laboratory, Health Services Laboratory 0 23 0 6 0 0 1 7
Institute for Integrative and Experimental Genomics, University of Luebeck 0 0 0 5 0 0 2 7
OLLIN Analises Genomicas, OLLIN 0 30 0 5 0 0 2 7
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 21 0 4 1 0 2 7
Albrecht-Kossel-Institute, Medical University Rostock 0 0 0 0 0 6 0 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 43 0 4 1 0 1 6
ClinGen Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel, ClinGen 0 9 0 3 3 0 0 6
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 49 0 2 2 0 2 6
Elsea Laboratory, Baylor College of Medicine 0 12 0 3 0 0 4 6
Lildballe Lab, Aarhus University Hospital 0 14 0 5 0 0 1 6
Ocular Genomics Institute, Massachusetts Eye and Ear 0 23 0 5 0 0 1 6
Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, Mayo Clinic 0 27 0 3 0 0 3 6
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 7 0 3 0 0 3 6
Suma Genomics 0 19 0 4 0 0 2 6
Arcensus 0 9 0 4 0 0 1 5
Centre for Medical Genetics, Mumbai 0 0 0 0 3 0 2 5
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 0 3 0 4 0 0 1 5
Clinical Genomics Laboratory, Washington University in St. Louis 0 34 0 5 0 0 0 5
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 12 0 4 0 0 1 5
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 46 0 2 0 0 3 5
Groupe Hospitalier Pitie Salpetriere, Uf Genomique Du Developpement, Assistance Publique Hopitaux de Paris Sorbonne Université 0 2 0 4 0 0 1 5
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA 0 11 0 4 0 0 1 5
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 13 2 2 1 0 0 5
Institute of Immunology and Genetics Kaiserslautern 0 32 0 2 0 0 3 5
Institute of Medical Molecular Genetics, University of Zurich 0 1 0 4 0 0 1 5
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine 0 3 0 2 0 0 3 5
Medical and Scientific Branch, Hong Kong Genome Institute 0 17 0 5 0 0 0 5
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 17 0 3 0 0 2 5
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 19 0 3 0 0 2 5
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 0 16 0 3 0 0 2 5
Paris Brain Institute, Inserm - ICM 0 2 0 3 0 0 2 5
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto 0 1 0 0 0 0 5 5
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 17 0 3 0 0 1 4
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 6 0 4 0 0 0 4
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen 0 5 0 1 1 0 2 4
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 8 0 1 0 0 3 4
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 20 0 4 0 0 0 4
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 14 0 2 1 0 1 4
Department of Genetics of Metabolic Diseases, Institute of Medical & Molecular Genetics, Hospital Universitario Hospital La Paz 0 8 0 1 0 0 3 4
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 6 0 3 1 0 0 4
Department of Molecular Genetics, Istishari Arab Hospital 0 12 0 2 0 0 2 4
Dr.Nikuei Genetic Center 0 4 0 1 3 0 0 4
European Hospital Georges Pompidou Genetics Department, Assistance Publique - Hôpitaux de Paris AP-HP 0 13 0 4 0 0 0 4
Faculty of Health Sciences, Beirut Arab University 0 6 0 2 0 0 2 4
GeneKor MSA 0 29 0 4 0 0 0 4
Genetics Department, Catlab 0 4 0 2 0 0 2 4
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 8 0 3 0 0 1 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 31 0 2 2 0 0 4
Giacomini Lab, University of California, San Francisco 0 7 0 0 1 0 3 4
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 16 0 2 0 0 2 4
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 31 0 2 0 0 2 4
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 12 0 3 0 0 1 4
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 0 1 0 0 3 4
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 0 0 2 0 0 2 4
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 35 0 2 0 0 2 4
UCLA Clinical Genomics Center, UCLA 0 3 0 2 0 0 2 4
Yale Center for Mendelian Genomics, Yale University 0 5 0 2 0 0 2 4
Cardiovascular Biomarker Research Laboratory, Mayo Clinic 0 1 0 1 2 0 0 3
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 6 0 3 0 0 0 3
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital 0 15 0 2 0 0 1 3
Centre for Human Genetics 0 2 0 3 0 0 0 3
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 24 0 2 0 0 1 3
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel 0 1 0 0 2 0 1 3
Clinical Genetics Laboratory, Region Ostergotland 0 3 0 2 0 0 1 3
Clinical Genomic Analysis (GENYSIS) Core, University of North Carolina at Chapel Hill 0 1 0 3 0 0 0 3
Department of Clinical Pathology, School of Medicine, Fujita Health University 0 0 0 1 2 0 0 3
Department of Genetics, Sultan Qaboos University Hospital 0 15 0 1 1 0 1 3
Department of Human Genetics, Laborarztpraxis Dres. Walther, Weindel und Kollegen 0 8 0 3 0 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 4 0 0 0 0 3 3
Duke University Health System Sequencing Clinic, Duke University Health System 0 10 0 2 0 0 1 3
Human Genetics Bochum, Ruhr University Bochum 0 12 0 3 0 0 0 3
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" 0 12 0 3 0 0 0 3
Institute of Human Genetics, Heidelberg University 0 14 0 3 0 0 0 3
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 9 0 2 0 0 1 3
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 9 0 1 2 0 0 3
Laan Lab, Human Genetics Research Group, University of Tartu 0 6 0 3 0 0 0 3
Laboratory of Experimental Gene Therapy of Hereditary Metabolic Diseases, Research Centre for Medical Genetics 0 6 0 3 0 0 0 3
MVZ Dr. Eberhard & Partner Dortmund 0 2 0 2 0 0 1 3
MVZ Martinsried, Medicover Genetics 0 1 0 3 0 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 9 0 2 0 0 1 3
Molecular Genetics Laboratory, Institute for Ophthalmic Research 0 5 0 3 0 0 0 3
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 3 0 3 0 0 1 3
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 1 0 1 0 0 2 3
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 5 0 2 0 0 1 3
University of Washington Department of Laboratory Medicine, University of Washington 0 7 0 0 1 0 2 3
APRT Deficiency Research Program of the Rare Kidney Stone Consortium, Landspitali, National University Hospital of Iceland 0 1 0 1 0 0 1 2
Amrita Institute of Medical Sciences and Research Centre, Amrita Vishwa Vidyapeetham 0 3 0 1 0 0 1 2
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 3 0 1 0 0 1 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 5 0 1 0 0 1 2
Cellular and Molecular Medicine Research Institute, Urmia University of Medical Sciences 0 4 0 1 0 0 1 2
Center for Genetic Medicine Research, Children's National Medical Center 0 7 0 0 1 0 1 2
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 6 0 1 0 0 1 2
Center for Personalized Medicine, Children's Hospital Los Angeles 0 15 0 1 0 0 1 2
Center for Rare Movement Disorders Innsbruck, Medical University Innsbruck 0 0 0 2 0 0 0 2
Center of Excellence for Medical Genomics, Chulalongkorn University 0 0 0 1 0 0 1 2
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen 0 2 0 0 2 0 0 2
Clingen Thrombosis Variant Curation Expert Panel, ClinGen 0 0 0 2 0 0 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 20 0 2 0 0 0 2
Codex Genetics Limited 0 1 0 1 0 0 1 2
Constitutional Genetics Lab, Leon Berard Cancer Center 0 18 0 2 0 0 0 2
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences 0 3 0 1 0 0 1 2
Department of Genetic, Henri Mondor Hospital, Assistance Publique des Hôpitaux de Paris 0 2 0 1 0 0 1 2
Department of Laboratory Medicine and Genetics, Trillium Health Partners Credit Valley Hospital 0 1 0 2 0 0 0 2
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 7 0 2 0 0 0 2
Department of Neurology, Guangzhou First People’s Hospital, School of Medicine, South China University of Technology 0 1 0 2 0 0 0 2
Department of Neurology, Xiangya Hospital Central South University 0 0 0 0 0 0 2 2
Department of Paediatrics at Addenbrookes, Cambridge University Hospitals NHS Foundation Trust (UK) 0 3 0 2 0 0 1 2
Department of Pediatrics, Gifu University 0 4 0 2 0 0 0 2
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 4 0 2 0 0 0 2
Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania 0 0 0 1 0 0 1 2
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 1 0 2 0 0 0 2
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 0 10 0 2 0 0 0 2
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 0 0 0 0 0 1 1 2
Eurofins-Biomnis 0 3 0 1 0 0 1 2
Felix Claverie-Martin Laboratory, Hospital Universitario Nuestra Senora de Candelaria 0 0 0 2 0 0 0 2
Forensic Genetics Laboratory, Harris County Institute of Forensic Sciences 0 0 0 0 0 0 2 2
GENinCode PLC 0 16 0 2 0 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 0 2 1 0 1 2
GenomeConnect - Simons Searchlight 0 7 0 1 0 0 1 2
Hereditary Research Laboratory, Bethlehem University 0 1 0 1 0 0 1 2
Inherited Neuropathy Consortium 0 0 0 0 0 0 2 2
Institute for Genomic Medicine, Nationwide Children's Hospital 0 2 0 0 0 0 2 2
Institute for Human Genetics, University Hospital Essen 0 1 0 1 0 0 1 2
Institute of Human Genetics Greifswald, Research Division, University Medicine Greifswald 0 2 0 2 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 19 0 1 0 0 1 2
Institute of Human Genetics, Cologne University 0 9 0 2 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 0 18 0 2 0 0 0 2
Institute of Reproductive Genetics, University of Münster 0 4 0 0 0 0 2 2
Intergen Genetics and Rare Diseases Diagnosis Center 0 11 0 2 0 0 0 2
Jiangsu Institute of Hematology, the First Affiliated Hospital of Soochow University 0 3 0 1 0 0 1 2
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 1 0 1 0 0 1 2
King Laboratory, University of Washington 0 2 0 0 1 0 1 2
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 3 0 1 0 0 1 2
Laboratory of Medical Genetics, University of Torino 0 7 0 0 0 0 2 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 6 0 1 0 0 1 2
Laboratory of Molecular, Cellular and Translation Genetics in Otolaryngology/ Lim32-hcfmusp, University of Sao Paulo School of Medicine Clinics Hospital 0 0 0 2 0 0 0 2
Leeds Institute of Medical Research, University of Leeds 0 3 0 2 0 0 0 2
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 0 6 0 2 0 0 0 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 5 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
Neurology Department, Peking University First Hospital 0 2 0 1 0 0 1 2
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 0 4 0 2 0 0 0 2
Northcott Neuroscience Laboratory, ANZAC Research Institute 0 0 0 0 1 0 1 2
Otogenetics 0 14 0 1 0 0 1 2
PDHA1 Study Group, University Children’s Hospital, Paracelsus Medical University 0 4 0 2 0 0 0 2
Payam Genetics Center, General Welfare Department of North Khorasan Province 0 2 0 2 0 0 0 2
Pediatric Department, Xiangya Hospital, Central South University 0 1 0 1 0 0 1 2
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 4 0 1 1 0 0 2
Precision Medicine Center, Zhengzhou University 0 5 0 2 0 0 0 2
Rare Disease Group, Clinical Genetics, Karolinska Institutet 0 2 0 2 1 0 1 2
Section for Clinical Neurogenetics, University of Tübingen 0 4 0 2 0 0 0 2
Service de Génétique Moléculaire, Hôpital Robert Debré 0 16 0 1 0 0 1 2
Service of Pediatric Gastrohepatology and Metabolic Diseases, University of Medicine of Tirana 0 3 0 1 0 0 1 2
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 5 0 2 0 0 0 2
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 1 0 1 0 0 1 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
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 0 0 0 0 0 0 2 2
deCODE genetics, Amgen 0 4 0 2 0 0 0 2
ATS em Genética Clínica, Universidade Federal do Rio Grande do Sul 0 4 0 1 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 1 0 0 1 0 0 1
Applied Translational Genetics Group, University of Auckland 0 0 0 0 0 0 1 1
Australian Red Cross Blood Service 0 0 0 0 0 1 0 1
Biochemistry Laboratory of CDMU, Chengde Medical University 0 2 0 1 0 0 1 1
Bioinformatics Unit, Institut Pasteur de Montevideo 0 1 0 1 0 0 0 1
Bruce Lefroy Centre, Murdoch Childrens Research Institute 0 2 0 1 0 0 0 1
CMT Laboratory, Bogazici University 0 0 0 1 0 0 0 1
CZECANCA consortium 0 46 0 0 0 0 1 1
Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency 0 0 0 0 1 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 2 0 0 0 0 1 1
Center for Human Genetics, University of Leuven 0 0 0 1 0 0 0 1
Center for Individualized Medicine, Mayo Clinic 0 0 0 1 0 0 0 1
Center for Medical Genetics Ghent, University of Ghent 0 0 0 1 0 0 0 1
Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University 0 0 0 1 0 0 1 1
Center for Precision Medicine, Vanderbilt University Medical Center 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
Center of Human Genetics, Hôpital Erasme 0 11 0 1 0 0 0 1
Central Laboratory, The First Hospital of Lanzhou University 0 0 0 1 0 0 1 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 25 0 0 0 0 1 1
Centre de Génétique Humaine, Institut de Pathologie Et de Génétique 0 1 0 0 1 0 0 1
Centre for Arab Genomic Studies, Sheikh Hamdan Award for Medical Sciences 0 1 0 1 0 0 0 1
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 0 1 0 1 0 0 0 1
Chao Lab, Baylor College of Medicine, Texas Children's Hospital 0 0 0 0 0 0 1 1
Children's Hospital DNA Laboratory, University Medical Center Goettingen 0 0 0 1 0 0 0 1
Chinese Inherited Urolithiasis Consortium, The Affiliated Yantai Yuhuangding Hospital of Qingdao University 0 5 0 1 0 0 0 1
Clinical Omics and Informatics (COIN) Unit, Neuroscience Institute, University Of Cape Town 0 1 0 1 0 0 0 1
Cohesion Phenomics 0 0 0 0 0 0 1 1
College of Medicine Research Centre, King Saud Univeristy 0 0 0 1 0 0 0 1
Columbia University Laboratory of Personalized Genomic Medicine, Columbia University Medical Center 0 1 0 1 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 0 14 0 1 0 0 0 1
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics 0 0 0 1 0 0 0 1
Cytogenetics, Genetics Associates, Inc. 0 0 0 1 0 0 1 1
Cytogenetique et Genetique Moleculaire, CHU Besancon 0 0 0 0 0 0 1 1
DBGen Ocular Genomics 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 Biotechnology and Genetic Engineering, Kohat University of Science and Technology 0 1 0 1 0 0 0 1
Department of Clinical Genetics, Aarhus University Hospital 0 0 0 1 0 0 0 1
Department of Endocrinology, Sir Run Run Shaw Hospital 0 0 0 0 0 0 1 1
Department of Molecular and Human Genetics, Baylor College of Medicine 0 1 0 0 0 0 1 1
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences 0 4 0 0 0 0 1 1
Department of Pathology and Molecular Medicine, Queen's University 0 1 0 0 0 0 1 1
Department of Pathophysiology and Transplantation, University of Milan 0 1 0 1 0 0 0 1
Department of Pediatric Genetics, Istanbul University - Cerrahpasa 0 2 0 0 0 0 1 1
Department of Pediatrics, Jichi Medical University 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
Department of Prenatal Diagnosis, Women’s Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital 0 0 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
Department of Rehabilitation, Anhui Provincial Children's Hospital 0 1 0 1 0 0 0 1
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 0 1 0 0 0 0 1 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 2 0 0 0 0 1 1
Diagnostic Laboratory, Strasbourg University Hospital 0 4 0 0 0 0 1 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 3 0 1 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 3 0 1 0 0 0 1
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital 0 4 0 1 0 0 0 1
Division of Medical Genetics, University of Washington 0 1 0 0 0 0 1 1
Dobyns Lab, Seattle Children's Research Institute 0 1 0 1 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 0 2 0 0 0 0 1 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 0 1 0 0 0 1
Embryology Laboratory, Victor Chang Cardiac Research Institute 0 0 0 1 0 0 0 1
Endocrinology Clinic, Seth G.S. Medical College 0 0 0 0 0 0 1 1
Flegel Lab, National Institutes of Health 0 0 0 1 0 0 1 1
Garry R Cutting Laboratory, Johns Hopkins University 0 0 0 1 0 0 0 1
GeNE CliniK, Regional Hospital Limbe 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
GenePathDx, GenePath diagnostics 0 0 0 1 0 0 0 1
Genesis Genomics 0 2 0 1 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 0 2 0 1 0 0 0 1
Genetics Department, University Hospital of Toulouse 0 0 0 0 0 0 1 1
Genetics Institute, Tel Aviv Sourasky Medical Center 0 1 0 0 0 0 1 1
Genetics Laboratory, Department of Biology, Semnan University 0 2 0 1 0 0 0 1
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences 0 2 0 0 0 0 1 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 0 0 1 0 0 1 1
Genome Medicine, Institute for Basic Research in Developmental Disabilities 0 1 0 1 0 0 0 1
Genome Sciences Centre, British Columbia Cancer Agency 0 0 0 0 0 0 1 1
Genomic Medicine, Universita Cattolica del Sacro Cuore 0 1 0 1 0 0 1 1
Genomics And Bioinformatics Analysis Resource, Columbia University 0 6 0 1 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 0 2 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
Hehr Laboratory, Center for Human Genetics Regensburg 0 0 0 0 0 0 1 1
Human Genetics School of Medicine of Albacete, Castilla-La Mancha University 0 0 0 0 0 0 1 1
IIFP, CONICET-UNLP 0 1 0 1 0 0 0 1
IU Genetic Testing Laboratories, Indiana University School of Medicine 0 0 0 0 0 0 1 1
Inherited Neuropathy Consortium Ii, University Of Miami 0 1 0 0 0 0 1 1
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles 0 4 0 0 0 0 1 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 4 0 1 0 0 0 1
Institute of Cellular and Molecular Medicine, Copenhagen University 0 0 0 0 0 0 1 1
Institute of Human Genetics, University of Goettingen 0 0 0 0 1 0 0 1
LIPIGEN - Lipid Transport Disorders Italian Genetic Network 0 3 0 1 0 0 0 1
Laboratoire Génétique Moléculaire, CHRU TOURS 0 2 0 1 0 0 0 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
Laboratory Cellgenetics, GMDL Cellgenetics 0 2 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
Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi 0 0 0 0 0 0 1 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 0 0 0 0 0 0 1 1
Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics 0 3 0 1 0 0 0 1
Laboratory of Hereditary Immune Disorders, Research Centre for Medical Genetics 0 0 0 1 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 0 1 0 1 0 0 0 1
Laboratory of Molecular Genetics, CHU Rennes 0 0 0 1 0 0 0 1
MAGI's Lab - Research, MAGI Group 0 0 0 1 0 0 0 1
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano 0 1 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
Medical Genetics Lab, Policlinico S. Orsola.Malpighi 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
Medical Genetics Laboratory, Etlik City Hospital 0 1 0 0 0 0 1 1
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences 0 0 0 1 0 0 0 1
Medical Molecular Genetics, National Research Centre 0 1 0 0 0 0 1 1
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 0 2 0 0 0 0 1 1
Molecular Diagnosis Center for Deafness 0 1 0 1 0 0 0 1
Molecular Endocrinology Laboratory, Christian Medical College 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 Genetics Lab, CHRU Brest 0 6 0 0 0 0 1 1
Molecular Genetics laboratory, Necker Hospital 0 1 0 1 0 0 0 1
Molecular Lab, Department of Haematology, Christian Medical College 0 1 0 1 0 0 0 1
Molecular Pathology Diagnostics Labratory, University of Iowa Hospitals & Clinics 0 0 0 0 0 0 1 1
Molecular Pathology, Peter Maccallum Cancer Centre 0 17 0 0 1 0 0 1
Mount Sinai Diagnostic Laboratory, Icahn School of Medicine at Mount Sinai 0 0 0 1 0 0 0 1
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire 0 0 0 0 0 0 1 1
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 0 7 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
Neurogenetic Laboratory, Second Faculty of Medicine, Charles University 0 1 0 1 0 0 0 1
Neurogenetics Laboratory - MEYER, AOU Meyer 0 2 0 1 0 0 1 1
Neurogenetics of motion laboratory, Montreal Neurological Institute 0 1 0 1 0 0 0 1
Neurology Department, Shenzhen Children's Hospital 0 0 0 1 0 0 0 1
Ophthalmology, Kobe City Eye Hospital 0 3 0 1 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 0 1 0 1 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 0 1 0 1 0 0 0 1
Palladino Lab, Pittsburgh Institute for Neurodegenerative Disease 0 0 0 0 0 0 1 1
Pangenia Genomics, Pangenia Inc. 0 0 0 1 0 0 0 1
Pars Genome Lab 0 6 0 0 1 0 0 1
Paul Sabatier University EA-4555, Paul Sabatier University 0 0 0 0 1 0 0 1
Pediatric Genomics Discovery Program, Yale University 0 0 0 0 0 0 1 1
Pediatric Highly Intensive Care Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 0 0 0 1 0 0 1 1
Pediatric Neurology, Shengjing Hospital of China Medical University 0 0 0 0 0 0 1 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 1 0 0 0 0 1 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
Precision Medical Center, Wuhan Children's Hospital 0 0 0 0 0 0 1 1
Precision Medicine Lab Center, Yangjiang People's Hospital 0 0 0 1 0 0 0 1
Rare Disease Group, University of Exeter 0 0 0 0 0 0 1 1
Reproductive Development, Murdoch Childrens Research Institute 0 0 0 0 0 0 1 1
Research Unit for Rare Diseases, 1st Faculty of Medicine, Charles University in Prague 0 0 0 0 0 0 1 1
RettBASE 0 1 0 0 1 0 0 1
Revvity Omics, Revvity 47540 0 0 0 0 0 1 1
Serv. Biochemistry and Molecular genetics, Hospital Clinic de Barcelona, Hospital Clínic de Barcelona 0 0 0 0 0 0 1 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 0 0 0 0 0 1 1
Shaine Morris Lab, Baylor College of Medicine 0 1 0 1 0 0 0 1
Sharon lab, Hadassah-Hebrew University Medical Center 0 3 0 1 0 0 0 1
Snyder Lab, Genetics Department, Stanford University 0 1 0 1 0 0 0 1
St. Anna Children's Cancer Research Institute (CCRI) 0 0 0 1 0 0 0 1
Stanford Starfish Project, Stanford University 0 0 0 0 0 0 1 1
Sydney Genome Diagnostics, Children's Hospital Westmead 0 3 0 1 0 0 0 1
Synevo Romania 0 1 0 1 0 0 0 1
Thalassemia Center, San Luigi University Hospital 0 0 0 1 0 0 0 1
The Clinical Immunogenomics Research Consortium Australasia, Garvan Institute of Medical Research 0 0 0 0 0 0 1 1
The Shared Resource Centre "Genome", Research Centre for Medical Genetics 0 0 0 1 0 0 0 1
The Telomere Center at Johns Hopkins, Johns Hopkins University School of Medicine 0 0 0 1 0 0 0 1
Tumer Group, Copenhagen University Hospital, Rigshospitalet 0 0 0 0 0 0 1 1
UniProtKB/Swiss-Prot 0 20 0 1 0 0 0 1
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics 0 0 0 0 0 1 0 1
Versiti Diagnostic Laboratories, Versiti, Inc 0 0 0 1 0 0 0 1
Wang Lab, Institute of Neuroscience, Xiamen university 0 0 0 1 0 0 0 1
Yoda Diagnostics Pvt Ltd, YODA Diagnostics Pvt Ltd 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 9601
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 0.06828
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466 0.04034
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_001370466.1(NOD2):c.2023C>T (p.Arg675Trp) rs2066844 0.02760
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_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_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_001198533.2(OXR1):c.1957-11262G>A rs145739822 0.00437
NM_002863.5(PYGL):c.1900G>C (p.Asp634His) rs35026927 0.00426
NM_000492.4(CFTR):c.-226G>T rs73717525 0.00422
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165 0.00414
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln) rs188164241 0.00405
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00393
NM_006432.5(NPC2):c.441+1G>A rs140130028 0.00393
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00391
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr) rs61730509 0.00389
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys) rs149694033 0.00388
NM_000036.3(AMPD1):c.930G>T (p.Met310Ile) rs61752478 0.00384
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00380
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00378
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_213595.4(ISCU):c.10G>C (p.Ala4Pro) rs558084375 0.00366
NM_002693.3(POLG):c.803G>C (p.Gly268Ala) rs61752784 0.00364
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00364
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) rs28938473 0.00362
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00347
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
NM_024921.4(POF1B):c.986G>A (p.Arg329Gln) rs75398746 0.00343
NM_025152.3(NUBPL):c.815-27T>C rs118161496 0.00343
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00342
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00337
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_000243.3(MEFV):c.910G>A (p.Gly304Arg) rs75977701 0.00316
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490 0.00315
NM_014270.5(SLC7A9):c.978-17G>A rs45628833 0.00315
NC_000011.10:g.5227154C>T rs72561473 0.00312
NM_000070.3(CAPN3):c.1746-20C>G rs201892814 0.00312
NM_000294.3(PHKG2):c.256G>A (p.Gly86Ser) rs143983247 0.00304
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677 0.00304
NM_000407.5(GP1BB):c.389C>T (p.Pro130Leu) rs547921381 0.00302
NM_001371596.2(MFSD8):c.1006G>C (p.Glu336Gln) rs150418024 0.00299
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682 0.00293
NC_000019.10:g.35282425C>T rs142126068 0.00287
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00283
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_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695 0.00279
NM_000301.5(PLG):c.112A>G (p.Lys38Glu) rs73015965 0.00279
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp) rs141090143 0.00273
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_000781.3(CYP11A1):c.940G>A (p.Glu314Lys) rs6161 0.00262
NM_001395413.1(POR):c.674C>T (p.Pro225Leu) rs17853284 0.00261
NM_201631.4(TGM5):c.337G>T (p.Gly113Cys) rs112292549 0.00252
NM_004473.4(FOXE1):c.743C>G (p.Ala248Gly) rs538912281 0.00247
NM_022132.5(MCCC2):c.1439A>G (p.Asn480Ser) rs115328026 0.00247
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 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_014270.5(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353 0.00239
NM_020361.5(CPA6):c.799G>A (p.Gly267Arg) rs61738009 0.00239
NM_001321739.2(M1AP):c.676dup (p.Trp226fs) rs144217347 0.00238
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg) rs104893836 0.00236
NM_020964.3(EPG5):c.2998A>G (p.Met1000Val) rs144334723 0.00235
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_001854.4(COL11A1):c.2556+92T>A rs550991929 0.00222
NM_153603.4(COG7):c.1178A>G (p.His393Arg) rs116331296 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_172351.3(CD46):c.926C>T (p.Pro309Leu) rs41317833 0.00220
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00219
NM_005051.3(QARS1):c.25C>A (p.Leu9Ile) rs62621067 0.00217
NM_000642.3(AGL):c.2390A>G (p.Asn797Ser) rs149210307 0.00212
NM_000702.4(ATP1A2):c.25T>A (p.Tyr9Asn) rs55858252 0.00211
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_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_000153.4(GALC):c.525C>T (p.Val175=) rs181066089 0.00199
NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu) rs121909352 0.00198
NM_000036.3(AMPD1):c.1162C>T (p.Arg388Trp) rs35859650 0.00196
NM_005529.7(HSPG2):c.9327C>T (p.His3109=) rs61743674 0.00195
NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg) rs61749455 0.00194
NM_032782.5(HAVCR2):c.245A>G (p.Tyr82Cys) rs184868814 0.00193
NM_176869.3(PPA2):c.322-3T>C rs151306309 0.00193
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_001171.6(ABCC6):c.742C>T (p.Leu248Phe) rs72653756 0.00191
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007 0.00190
NM_001171038.2(ASMT):c.562+2T>C rs148855515 0.00189
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg) rs117225135 0.00188
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00188
NM_000017.4(ACADS):c.529T>C (p.Trp177Arg) rs57443665 0.00186
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 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_020751.3(COG6):c.320A>T (p.Asp107Val) rs146229425 0.00183
NM_005529.7(HSPG2):c.8044C>T (p.Arg2682Trp) rs142458572 0.00182
NM_000301.5(PLG):c.1259G>A (p.Gly420Asp) rs139071351 0.00180
NM_001684.5(ATP2B4):c.2819A>G (p.Lys940Arg) rs138580420 0.00179
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00178
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) rs140551762 0.00178
NM_152564.5(VPS13B):c.3866C>G (p.Thr1289Ser) rs145569846 0.00178
NM_000350.3(ABCA4):c.1610G>A (p.Arg537His) rs61752395 0.00176
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_000433.4(NCF2):c.1081A>T (p.Thr361Ser) rs147744729 0.00174
NM_000250.2(MPO):c.1705C>T (p.Arg569Trp) rs119468010 0.00173
NM_000512.5(GALNS):c.1127G>A (p.Arg376Gln) rs150734270 0.00173
NM_001382.4(DPAGT1):c.994T>G (p.Phe332Val) rs138544311 0.00172
NM_000426.4(LAMA2):c.2462C>T (p.Thr821Met) rs117422805 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_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_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857 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_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00164
NM_000426.4(LAMA2):c.7111T>G (p.Phe2371Val) rs150644209 0.00164
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr) rs114925667 0.00164
NM_001277115.2(DNAH11):c.8533C>G (p.Arg2845Gly) rs121908854 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_022042.4(SLC26A1):c.1906G>T (p.Asp636Tyr) rs146466185 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_002591.4(PCK1):c.413C>T (p.Thr138Ile) rs28359542 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_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_000532.5(PCCB):c.774C>G (p.His258Gln) rs141615209 0.00154
NM_152743.4(BRAT1):c.1828C>T (p.Arg610Trp) rs61753094 0.00152
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser) rs181250704 0.00151
NM_001199397.3(NEK1):c.924T>G (p.Ile308Met) rs10034957 0.00151
NM_001875.5(CPS1):c.1630A>T (p.Thr544Ser) rs144230667 0.00151
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00151
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616 0.00150
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00149
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro) rs76723693 0.00149
NM_016335.6(PRODH):c.1217C>T (p.Pro406Leu) rs3970555 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_000298.6(PKLR):c.814C>G (p.Leu272Val) rs147659527 0.00147
NM_145725.3(TRAF3):c.352C>T (p.Arg118Trp) rs143813189 0.00147
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu) rs147231991 0.00146
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259 0.00145
NM_001023570.4(IQCB1):c.1441G>A (p.Glu481Lys) rs140630401 0.00145
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966 0.00145
NM_002016.2(FLG):c.9740C>A (p.Ser3247Ter) rs150597413 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_007074.4(CORO1A):c.1189G>A (p.Val397Ile) rs35967690 0.00141
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_000043.6(FAS):c.580G>A (p.Glu194Lys) rs56006128 0.00140
NM_001142800.2(EYS):c.6632C>T (p.Ser2211Leu) rs145623359 0.00140
NM_000532.5(PCCB):c.872G>A (p.Cys291Tyr) rs77820367 0.00139
NM_153614.4(DNAJB13):c.757G>A (p.Asp253Asn) rs140556652 0.00139
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter) rs150766139 0.00138
NM_000384.3(APOB):c.5066G>A (p.Arg1689His) rs151009667 0.00137
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_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met) rs58331765 0.00136
NM_001291303.3(FAT4):c.5275A>G (p.Ile1759Val) rs145639192 0.00135
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_000124.4(ERCC6):c.2096C>T (p.Thr699Met) rs55698015 0.00133
NM_182961.4(SYNE1):c.20288C>T (p.Ser6763Leu) rs115534729 0.00133
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111 0.00132
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_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00131
NM_000553.6(WRN):c.2937T>G (p.Ile979Met) rs147802438 0.00131
NM_001739.2(CA5A):c.788G>A (p.Arg263His) rs201195769 0.00131
NM_006953.4(UPK3A):c.818C>T (p.Pro273Leu) rs121918186 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_001041.4(SI):c.1730T>G (p.Val577Gly) rs121912615 0.00128
NM_006379.5(SEMA3C):c.688C>T (p.Pro230Ser) rs138522639 0.00128
NM_152268.4(PARS2):c.1091C>G (p.Pro364Arg) rs35201073 0.00128
NM_001376571.1(MADD):c.3481G>A (p.Ala1161Thr) rs61755074 0.00127
NM_015896.4(ZMYND10):c.229G>A (p.Ala77Thr) rs146847253 0.00127
NM_001142864.4(PIEZO1):c.3793G>A (p.Asp1265Asn) rs570106950 0.00126
NM_147127.5(EVC2):c.1823G>A (p.Arg608His) rs145693546 0.00126
NM_000036.3(AMPD1):c.381+1G>C rs143303736 0.00125
NM_000036.3(AMPD1):c.235C>T (p.Arg79Trp) rs61758863 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_005502.4(ABCA1):c.254C>T (p.Pro85Leu) rs145183203 0.00123
NM_015506.3(MMACHC):c.332G>A (p.Arg111Gln) rs200300254 0.00123
NM_213607.3(DNAAF19):c.461A>C (p.His154Pro) rs145457535 0.00123
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala) rs80265967 0.00121
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_020361.5(CPA6):c.619C>G (p.Gln207Glu) rs35993949 0.00121
NM_182914.3(SYNE2):c.1447G>A (p.Glu483Lys) rs200611311 0.00121
NM_000642.3(AGL):c.968G>A (p.Arg323Gln) rs139399527 0.00120
NM_005529.7(HSPG2):c.10280G>A (p.Arg3427Gln) rs142939330 0.00120
NM_001329943.3(KIAA0586):c.182T>C (p.Leu61Ser) rs183168709 0.00119
NM_017739.4(POMGNT1):c.839G>A (p.Ser280Asn) rs142485035 0.00119
NM_178857.6(RP1L1):c.5959C>T (p.Gln1987Ter) rs200846354 0.00119
NM_198576.4(AGRN):c.1570C>T (p.Arg524Trp) rs144164397 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_025099.6(CTC1):c.1720C>T (p.Pro574Ser) rs200440641 0.00117
NM_198576.4(AGRN):c.4694A>G (p.Gln1565Arg) rs201818235 0.00117
NM_000048.4(ASL):c.35G>A (p.Arg12Gln) rs145138923 0.00116
NM_000540.3(RYR1):c.94C>T (p.Leu32Phe) rs138630815 0.00116
NM_001041.4(SI):c.3972A>G (p.Pro1324=) rs142838806 0.00116
NM_001080483.3(MYMK):c.271C>A (p.Pro91Thr) rs137868995 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_032444.4(SLX4):c.2305G>C (p.Glu769Gln) rs150712805 0.00116
NM_052859.4(RFT1):c.826+7T>C rs192264403 0.00116
NM_000018.4(ACADVL):c.818G>C (p.Gly273Ala) rs150149784 0.00115
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_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00115
NM_182914.3(SYNE2):c.18835G>A (p.Ala6279Thr) rs145871645 0.00115
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln) rs5928 0.00113
NM_003126.4(SPTA1):c.775G>A (p.Ala259Thr) rs187932146 0.00113
NM_004369.4(COL6A3):c.6751C>T (p.Arg2251Trp) rs116690555 0.00113
NM_002796.3(PSMB4):c.-9G>A rs200946642 0.00112
NM_000163.5(GHR):c.239G>T (p.Gly80Val) rs114025919 0.00111
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00111
NM_000324.3(RHAG):c.199T>C (p.Phe67Leu) rs116356543 0.00110
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys) rs147136339 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_207122.2(EXT2):c.1178G>A (p.Arg393Gln) rs138187791 0.00109
NM_000492.4(CFTR):c.2620-26A>G rs201716473 0.00108
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519 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_024753.5(TTC21B):c.2587C>T (p.Arg863Trp) rs34489989 0.00108
NM_025132.4(WDR19):c.2702A>G (p.Tyr901Cys) rs76326086 0.00108
NM_000098.3(CPT2):c.1025T>C (p.Met342Thr) rs144658100 0.00107
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_000540.3(RYR1):c.7025A>G (p.Asn2342Ser) rs147213895 0.00107
NM_003793.4(CTSF):c.683C>G (p.Thr228Arg) rs148611356 0.00107
NM_201384.3(PLEC):c.3070G>A (p.Ala1024Thr) rs376665854 0.00107
NM_207037.2(TCF12):c.1465A>G (p.Met489Val) rs149621019 0.00107
NM_001673.5(ASNS):c.1364C>T (p.Ser455Phe) rs61733327 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_003126.4(SPTA1):c.373G>A (p.Ala125Thr) rs201771255 0.00105
NM_016038.4(SBDS):c.184A>T (p.Lys62Ter) rs120074160 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_007254.4(PNKP):c.650C>G (p.Thr217Ser) rs115259839 0.00104
NM_014384.3(ACAD8):c.1162G>A (p.Val388Met) rs139792723 0.00104
NM_014908.4(DOLK):c.700A>G (p.Met234Val) rs139787271 0.00104
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter) rs147021911 0.00104
NM_001267550.2(TTN):c.94283G>A (p.Arg31428His) rs149375775 0.00103
NM_005529.7(HSPG2):c.13018G>A (p.Val4340Met) rs145687082 0.00103
NM_015512.5(DNAH1):c.10438A>G (p.Ile3480Val) rs143443167 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_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00102
NM_015512.5(DNAH1):c.1351A>G (p.Lys451Glu) rs76591348 0.00102
NM_021628.3(ALOXE3):c.1889C>T (p.Pro630Leu) rs147149459 0.00102
NM_022356.4(P3H1):c.1504G>C (p.Gly502Arg) rs139259804 0.00102
NM_022437.3(ABCG8):c.1083G>A (p.Trp361Ter) rs137852987 0.00102
NM_181507.2(HPS5):c.241G>A (p.Ala81Thr) rs147053126 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_000540.3(RYR1):c.9355C>T (p.Arg3119Cys) rs61739911 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_004287.5(GOSR2):c.322A>C (p.Thr108Pro) rs138510884 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_182961.4(SYNE1):c.14452T>A (p.Tyr4818Asn) rs142422990 0.00101
NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro) rs147998933 0.00101
NM_000383.4(AIRE):c.1322C>T (p.Thr441Met) rs72650677 0.00100
NM_005732.4(RAD50):c.3253A>G (p.Ile1085Val) rs143189763 0.00100
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_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe) rs41301343 0.00100
NM_003849.4(SUCLG1):c.236G>A (p.Gly79Asp) rs143030960 0.00099
NM_004393.6(DAG1):c.278T>C (p.Ile93Thr) rs149218670 0.00099
NM_005236.3(ERCC4):c.1563C>G (p.Ser521Arg) rs41552412 0.00099
NM_005529.7(HSPG2):c.149A>T (p.His50Leu) rs138518139 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_052845.4(MMAB):c.10T>C (p.Cys4Arg) rs146668962 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_198586.3(NHLRC1):c.46A>G (p.Met16Val) rs146636139 0.00097
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_000426.4(LAMA2):c.1814C>T (p.Thr605Ile) rs112388307 0.00096
NM_006348.5(COG5):c.298C>T (p.Leu100Phe) rs150351852 0.00096
NM_012414.4(RAB3GAP2):c.112C>T (p.Pro38Ser) rs138796052 0.00096
NM_016653.3(MAP3K20):c.1640A>T (p.Gln547Leu) rs188158548 0.00096
NM_021815.5(SLC5A7):c.1237G>A (p.Val413Ile) rs138945146 0.00096
NM_022124.6(CDH23):c.2830A>G (p.Ser944Gly) rs188098974 0.00096
NM_022437.3(ABCG8):c.1924G>A (p.Ala642Thr) rs113005049 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_001384479.1(AGT):c.704T>G (p.Leu235Arg) rs5041 0.00095
NM_025132.4(WDR19):c.2386G>A (p.Ala796Thr) rs187332731 0.00095
NM_198253.3(TERT):c.572G>C (p.Ser191Thr) rs11952056 0.00095
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690 0.00094
NM_005666.4(CFHR2):c.79A>G (p.Lys27Glu) rs148175483 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_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00093
NM_005529.7(HSPG2):c.10512C>T (p.His3504=) rs55875654 0.00093
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe) rs374550999 0.00093
NM_000455.5(STK11):c.894C>A (p.Phe298Leu) rs199681533 0.00092
NM_001348323.3(TRIP12):c.1922C>T (p.Thr641Met) rs142882915 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_014141.6(CNTNAP2):c.2609T>C (p.Val870Ala) rs138481453 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_001142864.4(PIEZO1):c.94C>A (p.Leu32Met) rs370663645 0.00091
NM_003126.4(SPTA1):c.4694T>A (p.Leu1565Gln) rs202217097 0.00091
NM_003126.4(SPTA1):c.5457A>G (p.Leu1819=) rs186994154 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_000426.4(LAMA2):c.5021G>A (p.Arg1674Lys) rs143333246 0.00090
NM_001371986.1(UNC80):c.9760C>A (p.Gln3254Lys) rs189916631 0.00090
NM_001376571.1(MADD):c.774A>G (p.Pro258=) rs74698331 0.00090
NM_080911.3(UNG):c.262C>T (p.Arg88Cys) rs151095402 0.00090
NM_201378.4(PLEC):c.71-11599T>C rs201910266 0.00090
NM_000350.3(ABCA4):c.2966T>C (p.Val989Ala) rs61749454 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.3731T>G (p.Val1244Gly) rs187648086 0.00089
NM_000085.5(CLCNKB):c.700T>C (p.Trp234Arg) rs144517772 0.00088
NM_005529.7(HSPG2):c.12580G>A (p.Gly4194Arg) rs144496753 0.00088
NM_005529.7(HSPG2):c.2335C>T (p.His779Tyr) rs149094407 0.00088
NM_020937.4(FANCM):c.5791C>T (p.Arg1931Ter) rs144567652 0.00088
NM_152743.4(BRAT1):c.1792C>T (p.His598Tyr) rs201523118 0.00088
NM_170707.4(LMNA):c.640-52C>T rs41314033 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_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp) rs142572218 0.00087
NM_001374353.1(GLI2):c.607G>A (p.Ala203Thr) rs147044066 0.00086
NM_003041.4(SLC5A2):c.704G>A (p.Gly235Glu) rs138795531 0.00086
NM_004183.4(BEST1):c.1571T>C (p.Met524Thr) rs145209035 0.00086
NM_005198.5(CHKB):c.14C>T (p.Ala5Val) rs199703765 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_052844.4(DYNC2I2):c.569C>T (p.Thr190Met) rs142859913 0.00086
NM_183050.4(BCKDHB):c.633G>C (p.Lys211Asn) rs143427811 0.00086
NM_000426.4(LAMA2):c.9211+6T>C rs201375881 0.00085
NM_001927.4(DES):c.935A>C (p.Asp312Ala) rs148947510 0.00085
NM_004539.4(NARS1):c.1067A>C (p.Asp356Ala) rs138016359 0.00085
NM_004963.4(GUCY2C):c.893C>T (p.Thr298Met) rs148946391 0.00085
NM_033163.5(FGF8):c.77C>T (p.Pro26Leu) rs137852660 0.00085
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val) rs35818432 0.00085
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu) rs121909551 0.00084
NM_000782.5(CYP24A1):c.1226T>C (p.Leu409Ser) rs6068812 0.00084
NM_001291303.3(FAT4):c.11619C>T (p.Cys3873=) rs141328606 0.00084
NM_004320.6(ATP2A1):c.1370C>T (p.Thr457Met) rs138880727 0.00084
NM_005529.7(HSPG2):c.10917C>T (p.Tyr3639=) rs111558823 0.00084
NM_012414.4(RAB3GAP2):c.3842A>G (p.Tyr1281Cys) rs34081806 0.00084
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter) rs121908119 0.00084
NM_000174.5(GP9):c.368C>T (p.Pro123Leu) rs202229101 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_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_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243 0.00082
NM_000157.4(GBA1):c.1483G>C (p.Ala495Pro) rs368060 0.00081
NM_000254.3(MTR):c.1862A>G (p.Asp621Gly) rs61736440 0.00081
NM_001365536.1(SCN9A):c.3403C>T (p.Pro1135Ser) rs184563685 0.00081
NM_001377299.1(NDUFS2):c.959T>C (p.Val320Ala) rs144937332 0.00081
NM_001384732.1(CPLANE1):c.7408A>G (p.Arg2470Gly) rs144391535 0.00081
NM_002206.3(ITGA7):c.2651A>T (p.Glu884Val) rs149963176 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_000081.4(LYST):c.4637C>T (p.Ala1546Val) rs142983846 0.00080
NM_000391.4(TPP1):c.260A>G (p.Asp87Gly) rs148064565 0.00080
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414 0.00080
NM_025216.3(WNT10A):c.337C>T (p.Arg113Cys) rs141074983 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_001256545.2(MEGF10):c.1130+3G>A rs115184652 0.00079
NM_001378615.1(CC2D2A):c.1956G>A (p.Pro652=) rs375131519 0.00079
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met) rs138480247 0.00079
NM_000022.4(ADA):c.226C>T (p.Arg76Trp) rs121908736 0.00078
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val) rs61745150 0.00078
NM_000289.6(PFKM):c.41T>C (p.Ile14Thr) rs140473672 0.00078
NM_000295.5(SERPINA1):c.976G>A (p.Val326Ile) rs139964603 0.00078
NM_000782.5(CYP24A1):c.1186C>T (p.Arg396Trp) rs114368325 0.00078
NM_001849.4(COL6A2):c.2170C>T (p.Arg724Cys) rs150098077 0.00078
NM_005529.7(HSPG2):c.5648C>T (p.Ala1883Val) rs140954748 0.00078
NM_013382.7(POMT2):c.1045C>T (p.Arg349Trp) rs141339355 0.00078
NM_182914.3(SYNE2):c.3767G>A (p.Arg1256His) rs183356628 0.00078
NM_000089.4(COL1A2):c.2123G>A (p.Arg708Gln) rs72658163 0.00077
NM_001927.4(DES):c.170C>T (p.Ser57Leu) rs372825868 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_024678.6(NARS2):c.1042C>T (p.Arg348Trp) rs149061222 0.00077
NM_032578.4(MYPN):c.3583G>A (p.Val1195Met) rs71534280 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_000156.6(GAMT):c.581T>C (p.Val194Ala) rs147739199 0.00076
NM_000174.5(GP9):c.182A>G (p.Asn61Ser) rs5030764 0.00076
NM_000203.5(IDUA):c.701G>C (p.Ser234Thr) rs201826605 0.00076
NM_000540.3(RYR1):c.14257G>A (p.Ala4753Thr) rs138156449 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_001267550.2(TTN):c.83299C>A (p.Pro27767Thr) rs184643087 0.00076
NM_001848.3(COL6A1):c.2968A>C (p.Lys990Gln) rs141663473 0.00076
NM_002454.3(MTRR):c.446C>T (p.Ala149Val) rs142714881 0.00076
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00076
NM_003737.4(DCHS1):c.590C>T (p.Pro197Leu) rs145099391 0.00076
NM_005529.7(HSPG2):c.13145C>A (p.Ala4382Asp) rs116316900 0.00076
NM_006397.3(RNASEH2A):c.758T>C (p.Ile253Thr) rs145662304 0.00076
NM_170707.4(LMNA):c.1804G>A (p.Gly602Ser) rs60662302 0.00076
NM_182914.3(SYNE2):c.13424T>C (p.Val4475Ala) rs146977539 0.00076
NM_182961.4(SYNE1):c.24881A>G (p.Asp8294Gly) rs138407813 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_005529.7(HSPG2):c.4568G>A (p.Arg1523His) rs147633715 0.00075
NM_000433.4(NCF2):c.938C>T (p.Pro313Leu) rs137937390 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_001164508.2(NEB):c.19219G>A (p.Glu6407Lys) rs144539316 0.00074
NM_001267550.2(TTN):c.53055G>A (p.Met17685Ile) rs200387466 0.00074
NM_001330078.2(NRXN1):c.569A>G (p.Asn190Ser) rs200792504 0.00074
NM_001927.4(DES):c.785A>T (p.Glu262Val) rs147327878 0.00074
NM_002206.3(ITGA7):c.1606C>T (p.Leu536Phe) rs149028067 0.00074
NM_003122.5(SPINK1):c.-147A>G rs779832256 0.00074
NM_020549.5(CHAT):c.1069G>A (p.Gly357Arg) rs61731735 0.00074
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_001128840.3(CACNA1D):c.5017G>A (p.Glu1673Lys) rs147973409 0.00073
NM_001267550.2(TTN):c.21002A>G (p.Lys7001Arg) rs200594798 0.00073
NM_005475.3(SH2B3):c.622G>C (p.Glu208Gln) rs202080221 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_173660.5(DOK7):c.1171G>A (p.Gly391Arg) rs144158112 0.00073
NM_182914.3(SYNE2):c.17033C>T (p.Thr5678Met) rs147365925 0.00073
NM_201384.3(PLEC):c.4351G>A (p.Glu1451Lys) rs868906137 0.00073
NM_000402.4(G6PD):c.934G>C (p.Asp312His) rs137852318 0.00072
NM_001127178.3(PIGG):c.1515G>A (p.Trp505Ter) rs150259543 0.00072
NM_003924.4(PHOX2B):c.832G>A (p.Gly278Ser) rs138545772 0.00072
NM_004369.4(COL6A3):c.7849G>A (p.Asp2617Asn) rs138285547 0.00072
NM_004370.6(COL12A1):c.2357C>T (p.Thr786Met) rs148810173 0.00072
NM_005529.7(HSPG2):c.7235G>A (p.Ser2412Asn) rs146309392 0.00072
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678 0.00072
NM_000098.3(CPT2):c.1634A>C (p.Glu545Ala) rs17848485 0.00071
NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys) rs201758548 0.00071
NM_000369.5(TSHR):c.1783G>A (p.Val595Ile) rs142632518 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_014822.4(SEC24D):c.2135A>C (p.Asn712Thr) rs146773641 0.00071
NM_000036.3(AMPD1):c.1721G>A (p.Gly574Glu) rs150645738 0.00070
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys) rs150487794 0.00070
NM_003235.5(TG):c.229G>A (p.Gly77Ser) rs142698837 0.00070
NM_004990.4(MARS1):c.2671C>T (p.Pro891Ser) rs35843015 0.00070
NM_016492.5(RANGRF):c.52C>T (p.Leu18Phe) rs150856064 0.00070
NM_023936.2(MRPS34):c.94C>T (p.Gln32Ter) rs763672163 0.00070
NM_024334.3(TMEM43):c.424G>A (p.Glu142Lys) rs145619906 0.00070
NM_182914.3(SYNE2):c.12293C>A (p.Ala4098Asp) rs142169651 0.00070
NM_000334.4(SCN4A):c.1576G>A (p.Gly526Arg) rs181292216 0.00069
NM_001114134.2(EPB42):c.2044G>A (p.Val682Ile) rs149419129 0.00069
NM_001278293.3(ARL6):c.442T>G (p.Cys148Gly) rs148745414 0.00069
NM_176869.3(PPA2):c.514G>A (p.Glu172Lys) rs146013446 0.00069
NM_000426.4(LAMA2):c.6268+5G>C rs182064878 0.00068
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn) rs140562402 0.00068
NM_001267550.2(TTN):c.79226G>A (p.Arg26409His) rs72648206 0.00068
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00068
NM_001369268.1(ACAN):c.2024G>A (p.Arg675Gln) rs35102652 0.00068
NM_003126.4(SPTA1):c.4862T>A (p.Phe1621Tyr) rs374298000 0.00068
NM_004453.4(ETFDH):c.1049G>A (p.Arg350Gln) rs139306043 0.00068
NM_005245.4(FAT1):c.7957G>A (p.Gly2653Ser) rs200149452 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_152564.5(VPS13B):c.1559A>G (p.His520Arg) rs143205296 0.00068
NM_182961.4(SYNE1):c.24985A>G (p.Ser8329Gly) rs142690727 0.00068
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529 0.00067
NM_000426.4(LAMA2):c.7869A>G (p.Glu2623=) rs140658201 0.00067
NM_000426.4(LAMA2):c.7965C>A (p.Ile2655=) rs141101234 0.00067
NM_001378183.1(PIEZO2):c.4537C>G (p.Gln1513Glu) rs115526553 0.00067
NM_005797.4(MPZL2):c.72del (p.Ile24fs) rs752672077 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_152564.5(VPS13B):c.3656C>G (p.Ser1219Cys) rs149478021 0.00067
NM_000079.4(CHRNA1):c.224G>A (p.Arg75His) rs147488907 0.00066
NM_000128.4(F11):c.901T>C (p.Phe301Leu) rs121965064 0.00066
NM_000154.2(GALK1):c.746C>T (p.Ala249Val) rs149825190 0.00066
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu) rs150334966 0.00066
NM_000719.7(CACNA1C):c.911T>C (p.Ile304Thr) rs201756421 0.00066
NM_001845.6(COL4A1):c.2542C>G (p.Gln848Glu) rs144207910 0.00066
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser) rs139203363 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_198076.6(COX20):c.157+3G>C rs367956888 0.00066
NM_201384.3(PLEC):c.2642C>T (p.Thr881Met) rs200611519 0.00066
NM_201384.3(PLEC):c.5796G>A (p.Ala1932=) rs375568532 0.00066
NM_000426.4(LAMA2):c.1400A>G (p.Lys467Arg) rs138162760 0.00065
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00065
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn) rs138874610 0.00065
NM_001142864.4(PIEZO1):c.1591C>T (p.Arg531Cys) rs146505418 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_001077525.3(MTMR14):c.780T>A (p.Asp260Glu) rs142525507 0.00064
NM_001267550.2(TTN):c.59316G>A (p.Pro19772=) rs377180286 0.00064
NM_001267550.2(TTN):c.78896T>A (p.Val26299Asp) rs73036377 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_025114.4(CEP290):c.1670G>A (p.Arg557His) rs184018899 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_000070.3(CAPN3):c.525C>T (p.Asp175=) rs144383442 0.00063
NM_000334.4(SCN4A):c.4508A>G (p.Asn1503Ser) rs114900922 0.00063
NM_000426.4(LAMA2):c.6128A>G (p.Gln2043Arg) rs144155507 0.00063
NM_001006658.3(CR2):c.2298G>A (p.Trp766Ter) rs151093663 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_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter) rs201587138 0.00063
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) rs145843073 0.00063
NM_006254.4(PRKCD):c.1447C>T (p.Arg483Trp) rs35891605 0.00063
NM_014244.5(ADAMTS2):c.1883G>A (p.Arg628His) rs140621260 0.00063
NM_016734.3(PAX5):c.638C>T (p.Ser213Leu) rs137870876 0.00063
NM_152743.4(BRAT1):c.1507C>T (p.Pro503Ser) rs147745609 0.00063
NM_000213.5(ITGB4):c.3112-3C>T rs151033645 0.00062
NM_000322.5(PRPH2):c.708C>T (p.Tyr236=) rs61755813 0.00062
NM_001006658.3(CR2):c.1676G>A (p.Gly559Glu) rs143614333 0.00062
NM_001130987.2(DYSF):c.559G>A (p.Gly187Arg) rs200970855 0.00062
NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter) rs143994166 0.00062
NM_001267550.2(TTN):c.92294G>C (p.Arg30765Thr) rs373099440 0.00062
NM_001330078.2(NRXN1):c.2533C>T (p.His845Tyr) rs199784139 0.00062
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331 0.00062
NM_004370.6(COL12A1):c.1517C>G (p.Ala506Gly) rs189762594 0.00062
NM_005228.5(EGFR):c.3467A>C (p.His1156Pro) rs149174093 0.00062
NM_213599.3(ANO5):c.294G>A (p.Ala98=) rs142858990 0.00062
NM_000079.4(CHRNA1):c.1064A>G (p.Glu355Gly) rs144533405 0.00061
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.23989C>T (p.Arg7997Ter) rs549794342 0.00061
NM_001267550.2(TTN):c.81472C>G (p.Pro27158Ala) rs200771189 0.00061
NM_004369.4(COL6A3):c.3223C>T (p.Arg1075Trp) rs201962257 0.00061
NM_004369.4(COL6A3):c.3902G>A (p.Arg1301Gln) rs148038440 0.00061
NM_005883.3(APC2):c.4557G>A (p.Pro1519=) rs111280997 0.00061
NM_017534.6(MYH2):c.3884G>A (p.Arg1295His) rs143341678 0.00061
NM_201384.3(PLEC):c.9049C>T (p.Arg3017Trp) rs201041716 0.00061
NM_000334.4(SCN4A):c.3774+8G>A rs374806849 0.00060
NM_000426.4(LAMA2):c.6629T>C (p.Val2210Ala) rs78880369 0.00060
NM_001142864.4(PIEZO1):c.4957C>T (p.Arg1653Cys) rs761500193 0.00060
NM_001164508.2(NEB):c.20671C>T (p.Leu6891Phe) rs182866658 0.00060
NM_001267550.2(TTN):c.29042-2A>C rs6716782 0.00060
NM_001267550.2(TTN):c.74596A>G (p.Thr24866Ala) rs199784966 0.00060
NM_001384732.1(CPLANE1):c.8462-1G>C rs151279194 0.00060
NM_004320.6(ATP2A1):c.733G>A (p.Asp245Asn) rs150721350 0.00060
NM_005529.7(HSPG2):c.9564G>C (p.Gln3188His) rs149644947 0.00060
NM_024301.5(FKRP):c.969C>T (p.Arg323=) rs532054402 0.00060
NM_032409.3(PINK1):c.558G>C (p.Lys186Asn) rs143204084 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_001267550.2(TTN):c.72587G>A (p.Arg24196His) rs200317412 0.00059
NM_003126.4(SPTA1):c.3389A>G (p.Asn1130Ser) rs202016242 0.00059
NM_004260.4(RECQL4):c.817G>A (p.Ala273Thr) rs34103564 0.00059
NM_020376.4(PNPLA2):c.1406C>T (p.Pro469Leu) rs201177082 0.00059
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260 0.00059
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser) rs386834233 0.00059
NM_000023.4(SGCA):c.421C>A (p.Arg141Ser) rs35130237 0.00058
NM_000152.5(GAA):c.2417C>T (p.Thr806Met) rs139850074 0.00058
NM_000260.4(MYO7A):c.2882G>A (p.Gly961Asp) rs199575418 0.00058
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415 0.00058
NM_000540.3(RYR1):c.6961A>G (p.Ile2321Val) rs34390345 0.00058
NM_000651.6(CR1):c.5652G>A (p.Met1884Ile) rs140566582 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_001267550.2(TTN):c.50758C>G (p.Pro16920Ala) rs377289817 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_032578.4(MYPN):c.1130G>A (p.Arg377Gln) rs147596628 0.00058
NM_182961.4(SYNE1):c.3074A>T (p.Asp1025Val) rs143093185 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_001244008.2(KIF1A):c.3494T>C (p.Ile1165Thr) rs35698242 0.00057
NM_001355436.2(SPTB):c.2431G>A (p.Glu811Lys) rs140584449 0.00057
NM_001848.3(COL6A1):c.202C>T (p.Arg68Cys) rs137964147 0.00057
NM_002863.5(PYGL):c.2197T>C (p.Tyr733His) rs141992300 0.00057
NM_004366.6(CLCN2):c.1795G>A (p.Asp599Asn) rs141242566 0.00057
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu) rs139260335 0.00057
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) rs202052174 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_170707.4(LMNA):c.1912G>A (p.Gly638Arg) rs144851946 0.00057
NM_172364.5(CACNA2D4):c.2406C>A (p.Tyr802Ter) rs71454844 0.00057
NM_000213.5(ITGB4):c.3427A>G (p.Ile1143Val) rs149481974 0.00056
NM_001267550.2(TTN):c.71841G>C (p.Lys23947Asn) rs56019808 0.00056
NM_001329943.3(KIAA0586):c.94dup (p.His32fs) rs555421894 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_016653.3(MAP3K20):c.1346G>A (p.Gly449Glu) rs201693932 0.00056
NM_017617.5(NOTCH1):c.6836C>T (p.Ala2279Val) rs200370953 0.00056
NM_020549.5(CHAT):c.1174G>A (p.Ala392Thr) rs115877658 0.00056
NM_182961.4(SYNE1):c.18789G>A (p.Ser6263=) rs150905950 0.00056
NM_198129.4(LAMA3):c.9241C>T (p.Arg3081Cys) rs35762515 0.00056
NM_000081.4(LYST):c.11086G>A (p.Val3696Ile) rs147221131 0.00055
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_001164508.2(NEB):c.20956G>C (p.Asp6986His) rs150874422 0.00055
NM_001164508.2(NEB):c.6088C>T (p.Leu2030Phe) rs200251444 0.00055
NM_005529.7(HSPG2):c.10609G>A (p.Gly3537Arg) rs145048530 0.00055
NM_017668.3(NDE1):c.872C>T (p.Ser291Phe) rs146284370 0.00055
NM_020320.5(RARS2):c.442A>G (p.Thr148Ala) rs143389605 0.00055
NM_053025.4(MYLK):c.3898G>A (p.Ala1300Thr) rs149530842 0.00055
NM_201384.3(PLEC):c.11594G>A (p.Arg3865His) rs200722246 0.00055
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_001039141.3(TRIOBP):c.5014G>T (p.Gly1672Ter) rs200045032 0.00054
NM_001164508.2(NEB):c.14266C>A (p.Gln4756Lys) rs755875238 0.00054
NM_001171.6(ABCC6):c.1540G>A (p.Val514Ile) rs59157279 0.00054
NM_001267550.2(TTN):c.49357C>A (p.Pro16453Thr) rs200121902 0.00054
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His) rs191539637 0.00054
NM_001363118.2(SLC52A2):c.535G>A (p.Gly179Ser) rs151081625 0.00054
NM_005529.7(HSPG2):c.2549G>A (p.Arg850His) rs140392638 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_020166.5(MCCC1):c.1942G>A (p.Gly648Ser) rs149017703 0.00054
NM_021971.4(GMPPB):c.79G>C (p.Asp27His) rs142336618 0.00054
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg) rs141103838 0.00054
NM_182961.4(SYNE1):c.5807A>G (p.His1936Arg) rs112744561 0.00054
NM_201384.3(PLEC):c.6045A>T (p.Lys2015Asn) rs200540800 0.00054
NM_206933.4(USH2A):c.12343C>T (p.Arg4115Cys) rs111033275 0.00054
NM_000053.4(ATP7B):c.1993A>G (p.Met665Val) rs146303208 0.00053
NM_000334.4(SCN4A):c.1520A>G (p.Asn507Ser) rs201793080 0.00053
NM_000540.3(RYR1):c.11321C>T (p.Ala3774Val) rs146361173 0.00053
NM_001142864.4(PIEZO1):c.7006C>T (p.Arg2336Trp) rs374203151 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_001283009.2(RTEL1):c.2915C>T (p.Thr972Ile) rs199834369 0.00053
NM_004370.6(COL12A1):c.3835+4A>G rs187358458 0.00053
NM_000426.4(LAMA2):c.3014A>G (p.Asn1005Ser) rs139244736 0.00052
NM_001355436.2(SPTB):c.5689A>G (p.Thr1897Ala) rs147013623 0.00052
NM_016239.4(MYO15A):c.5925G>A (p.Trp1975Ter) rs375290498 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_182961.4(SYNE1):c.5125C>A (p.Gln1709Lys) rs140005424 0.00052
NM_201384.3(PLEC):c.5521G>A (p.Ala1841Thr) rs201657125 0.00052
NM_000018.4(ACADVL):c.1473A>G (p.Leu491=) rs150518187 0.00051
NM_000070.3(CAPN3):c.1746-7C>G rs199978708 0.00051
NM_000152.5(GAA):c.1438-9G>A rs202211401 0.00051
NM_000298.6(PKLR):c.1614A>T (p.Glu538Asp) rs201217064 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_001035.3(RYR2):c.3320C>T (p.Thr1107Met) rs200236750 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_001384140.1(PCDH15):c.2581G>A (p.Val861Met) rs142512524 0.00051
NM_001927.4(DES):c.934G>A (p.Asp312Asn) rs34337334 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_006295.3(VARS1):c.3650G>A (p.Arg1217His) rs368075745 0.00051
NM_013382.7(POMT2):c.229G>A (p.Asp77Asn) rs200992827 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.6506A>G (p.Asn2169Ser) rs144845618 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.3255C>T (p.Asp1085=) rs368625295 0.00050
NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr) rs72650064 0.00050
NM_001848.3(COL6A1):c.2876T>C (p.Val959Ala) rs144814689 0.00050
NM_001940.4(ATN1):c.1865C>G (p.Ala622Gly) rs150801397 0.00050
NM_002180.3(IGHMBP2):c.2360C>T (p.Pro787Leu) rs141594765 0.00050
NM_004304.5(ALK):c.3080C>T (p.Pro1027Leu) rs140733978 0.00050
NM_005529.7(HSPG2):c.11256G>A (p.Leu3752=) rs144122107 0.00050
NM_000262.3(NAGA):c.479C>G (p.Ser160Cys) rs121434532 0.00049
NM_000320.3(QDPR):c.588G>C (p.Glu196Asp) rs112209600 0.00049
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys) rs201680145 0.00049
NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser) rs141137410 0.00049
NM_001142864.4(PIEZO1):c.6165-7G>A rs141011459 0.00049
NM_001164508.2(NEB):c.10201T>A (p.Ser3401Thr) rs199847072 0.00049
NM_001242896.3(DEPDC5):c.1525C>T (p.Arg509Cys) rs202083639 0.00049
NM_001271.4(CHD2):c.4762C>T (p.Arg1588Trp) rs139646715 0.00049
NM_001372.4(DNAH9):c.3593G>C (p.Trp1198Ser) rs141958775 0.00049
NM_001756.4(SERPINA6):c.1165G>A (p.Asp389Asn) rs28929488 0.00049
NM_002180.3(IGHMBP2):c.2176G>A (p.Val726Met) rs143986510 0.00049
NM_003126.4(SPTA1):c.4711T>G (p.Cys1571Gly) rs201601992 0.00049
NM_014324.6(AMACR):c.154T>C (p.Ser52Pro) rs121917814 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_178857.6(RP1L1):c.77C>T (p.Ser26Leu) rs185749010 0.00049
NM_182961.4(SYNE1):c.16850G>A (p.Arg5617Gln) rs141550859 0.00049
NM_201384.3(PLEC):c.13182C>T (p.Thr4394=) rs373958891 0.00049
NM_000130.5(F5):c.885C>T (p.Thr295=) rs148752831 0.00048
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747 0.00048
NM_000324.3(RHAG):c.1147C>A (p.Leu383Ile) rs141051794 0.00048
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) rs61750641 0.00048
NM_000426.4(LAMA2):c.8761G>A (p.Asp2921Asn) rs139159258 0.00048
NM_000751.3(CHRND):c.817G>A (p.Asp273Asn) rs202209156 0.00048
NM_001142864.4(PIEZO1):c.5312C>T (p.Pro1771Leu) rs202099525 0.00048
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) rs182018947 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_003742.4(ABCB11):c.2927A>G (p.Gln976Arg) rs199940188 0.00048
NM_004004.6(GJB2):c.-22-6T>C rs141962118 0.00048
NM_004320.6(ATP2A1):c.1427G>A (p.Arg476His) rs150068594 0.00048
NM_004370.6(COL12A1):c.5585T>C (p.Val1862Ala) rs200029869 0.00048
NM_004393.6(DAG1):c.1022C>T (p.Thr341Ile) rs148759919 0.00048
NM_005529.7(HSPG2):c.7337C>T (p.Ser2446Leu) rs146950983 0.00048
NM_012210.4(TRIM32):c.*1G>A rs142781513 0.00048
NM_013275.6(ANKRD11):c.6115G>A (p.Asp2039Asn) rs376679880 0.00048
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_017617.5(NOTCH1):c.3970G>A (p.Val1324Met) rs149057410 0.00048
NM_024301.5(FKRP):c.456C>G (p.Ser152Arg) rs199714523 0.00048
NM_031372.4(HNRNPDL):c.274T>C (p.Ser92Pro) rs199543859 0.00048
NM_080860.4(RSPH1):c.275-2A>C rs151107532 0.00048
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_182961.4(SYNE1):c.10396C>G (p.Leu3466Val) rs150637898 0.00048
NM_000016.6(ACADM):c.199T>C (p.Tyr67His) rs121434280 0.00047
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu) rs28942073 0.00047
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_001122955.4(BSCL2):c.1100C>T (p.Pro367Leu) rs144245125 0.00047
NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=) rs143762717 0.00047
NM_001267550.2(TTN):c.30181A>C (p.Lys10061Gln) rs184153985 0.00047
NM_001384140.1(PCDH15):c.824G>A (p.Arg275His) rs142678284 0.00047
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921 0.00047
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661 0.00047
NM_007254.4(PNKP):c.188C>T (p.Ala63Val) rs3739173 0.00047
NM_020376.4(PNPLA2):c.236G>A (p.Arg79Gln) rs139576982 0.00047
NM_206933.4(USH2A):c.12241C>T (p.Arg4081Trp) rs144783615 0.00047
NM_000016.6(ACADM):c.600-18G>A rs370523609 0.00046
NM_000017.4(ACADS):c.988C>T (p.Arg330Cys) rs140853839 0.00046
NM_001142864.4(PIEZO1):c.3923T>C (p.Leu1308Pro) rs773006843 0.00046
NM_001142864.4(PIEZO1):c.7174G>A (p.Glu2392Lys) rs528448732 0.00046
NM_001164508.2(NEB):c.23524C>T (p.Arg7842Cys) rs184516994 0.00046
NM_001267550.2(TTN):c.18550G>A (p.Ala6184Thr) rs72648947 0.00046
NM_001267550.2(TTN):c.31763-1G>A rs202234172 0.00046
NM_001267550.2(TTN):c.47767G>A (p.Gly15923Arg) rs371943746 0.00046
NM_001267550.2(TTN):c.57808G>C (p.Val19270Leu) rs369440319 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_004370.6(COL12A1):c.7885G>A (p.Glu2629Lys) rs147044263 0.00046
NM_005529.7(HSPG2):c.8605G>C (p.Ala2869Pro) rs139838884 0.00046
NM_005677.4(COLQ):c.167C>T (p.Pro56Leu) rs768517440 0.00046
NM_012144.4(DNAI1):c.389-1G>C rs200488444 0.00046
NM_019109.5(ALG1):c.827G>A (p.Arg276Gln) rs201975029 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_201384.3(PLEC):c.5227G>A (p.Ala1743Thr) rs781946435 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_213599.3(ANO5):c.2272C>T (p.Arg758Cys) rs137854529 0.00046
NM_000528.4(MAN2B1):c.1437G>T (p.Ala479=) rs139435774 0.00045
NM_001080414.4(CCDC88C):c.5578C>T (p.Arg1860Trp) rs200488874 0.00045
NM_001099922.3(ALG13):c.2485A>G (p.Met829Val) rs368075878 0.00045
NM_001101426.4(CRPPA):c.808C>T (p.Leu270Phe) rs200334999 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.91311A>G (p.Glu30437=) rs374094732 0.00045
NM_013275.6(ANKRD11):c.6112A>G (p.Lys2038Glu) rs200724087 0.00045
NM_015404.4(WHRN):c.995G>A (p.Arg332Gln) rs139193948 0.00045
NM_138477.4(CDAN1):c.1368-6C>T rs200290322 0.00045
NM_000124.4(ERCC6):c.1145A>G (p.Glu382Gly) rs56089364 0.00044
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855 0.00044
NM_000257.4(MYH7):c.3960G>A (p.Glu1320=) rs147797612 0.00044
NM_000426.4(LAMA2):c.1645C>T (p.Pro549Ser) rs139070796 0.00044
NM_001142864.4(PIEZO1):c.1232C>T (p.Pro411Leu) rs369091041 0.00044
NM_001142864.4(PIEZO1):c.5681G>A (p.Arg1894Lys) rs552401582 0.00044
NM_001218.5(CA12):c.908-1G>A rs148438059 0.00044
NM_002180.3(IGHMBP2):c.165G>C (p.Gln55His) rs201692151 0.00044
NM_002206.3(ITGA7):c.284C>T (p.Pro95Leu) rs143749139 0.00044
NM_003002.4(SDHD):c.278A>G (p.Tyr93Cys) rs142135772 0.00044
NM_005055.5(RAPSN):c.492C>T (p.Arg164=) rs146237774 0.00044
NM_005529.7(HSPG2):c.13033G>A (p.Gly4345Arg) rs148788926 0.00044
NM_006363.6(SEC23B):c.1665+6T>C rs371786580 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_020822.3(KCNT1):c.1726G>A (p.Glu576Lys) rs147306623 0.00044
NM_176869.3(PPA2):c.683C>T (p.Pro228Leu) rs138215926 0.00044
NM_182961.4(SYNE1):c.21002A>G (p.Lys7001Arg) rs145075161 0.00044
NM_182961.4(SYNE1):c.976T>C (p.Trp326Arg) rs146668256 0.00044
NM_201384.3(PLEC):c.2704G>A (p.Asp902Asn) rs199833127 0.00044
NM_201384.3(PLEC):c.6099G>A (p.Ala2033=) rs375465011 0.00044
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) rs140856217 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_001267550.2(TTN):c.33G>A (p.Pro11=) rs138331646 0.00043
NM_001267550.2(TTN):c.84148A>G (p.Ile28050Val) rs201348580 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_003126.4(SPTA1):c.3742C>T (p.Arg1248Trp) rs200714808 0.00043
NM_004525.3(LRP2):c.6553C>T (p.Leu2185Phe) rs143884041 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_000081.4(LYST):c.692A>G (p.Gln231Arg) rs147433918 0.00042
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987 0.00042
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_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.55417A>G (p.Arg18473Gly) rs72646822 0.00042
NM_001267550.2(TTN):c.57442A>G (p.Met19148Val) rs188185141 0.00042
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00042
NM_001355436.2(SPTB):c.2639T>A (p.Leu880Gln) rs770698912 0.00042
NM_001355436.2(SPTB):c.5173G>A (p.Val1725Met) rs145753633 0.00042
NM_002465.4(MYBPC1):c.1084G>A (p.Val362Ile) rs190129005 0.00042
NM_003126.4(SPTA1):c.3829C>T (p.Arg1277Cys) rs143642542 0.00042
NM_004370.6(COL12A1):c.8831C>T (p.Pro2944Leu) rs199702595 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_000053.4(ATP7B):c.1934T>G (p.Met645Arg) rs121907998 0.00041
NM_000080.4(CHRNE):c.901G>A (p.Val301Met) rs140023380 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_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507 0.00041
NM_001080453.3(INTS1):c.5540C>T (p.Ala1847Val) rs201606213 0.00041
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg) rs138977195 0.00041
NM_001267550.2(TTN):c.20743G>T (p.Ala6915Ser) rs201728165 0.00041
NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn) rs201257644 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_001282225.2(ADA2):c.506G>A (p.Arg169Gln) rs77563738 0.00041
NM_001317778.2(SFTPC):c.523C>G (p.Leu175Val) rs201685063 0.00041
NM_001378615.1(CC2D2A):c.*1T>A rs199945435 0.00041
NM_003126.4(SPTA1):c.6896G>T (p.Cys2299Phe) rs201514157 0.00041
NM_004369.4(COL6A3):c.4103C>T (p.Thr1368Met) rs116505603 0.00041
NM_005609.4(PYGM):c.1692C>T (p.Phe564=) rs116812032 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_020117.11(LARS1):c.1292T>A (p.Val431Asp) rs150429680 0.00041
NM_152703.5(SAMD9L):c.2069G>A (p.Gly690Asp) rs147903234 0.00041
NM_182914.3(SYNE2):c.1154A>G (p.Asn385Ser) rs201176149 0.00041
NM_201384.3(PLEC):c.10498C>T (p.Arg3500Cys) rs200541837 0.00041
NM_201384.3(PLEC):c.13111G>A (p.Ala4371Thr) rs200361523 0.00041
NM_000036.3(AMPD1):c.1274G>A (p.Arg425His) rs121912682 0.00040
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_000268.4(NF2):c.1753G>A (p.Ala585Thr) rs145446060 0.00040
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp) rs121918170 0.00040
NM_000298.6(PKLR):c.92C>T (p.Ala31Val) rs150077703 0.00040
NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642 0.00040
NM_000518.5(HBB):c.316-125A>G rs63751175 0.00040
NM_000751.3(CHRND):c.727C>T (p.Arg243Cys) rs201733876 0.00040
NM_001035.3(RYR2):c.1822C>T (p.His608Tyr) rs727504718 0.00040
NM_001142864.4(PIEZO1):c.1107+1G>C rs199524784 0.00040
NM_001142864.4(PIEZO1):c.4539C>G (p.Phe1513Leu) rs377025920 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_001355436.2(SPTB):c.1523G>A (p.Arg508His) rs142541718 0.00040
NM_002473.6(MYH9):c.3340T>C (p.Ser1114Pro) rs200901330 0.00040
NM_004369.4(COL6A3):c.5839-3C>T rs112825341 0.00040
NM_007118.4(TRIO):c.44C>T (p.Ser15Phe) rs1006366530 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_018972.4(GDAP1):c.556A>G (p.Ile186Val) rs148508128 0.00040
NM_020549.5(CHAT):c.1883G>A (p.Arg628Gln) rs114545628 0.00040
NM_032228.6(FAR1):c.1077C>G (p.Ala359=) rs146816221 0.00040
NM_182961.4(SYNE1):c.14501G>A (p.Arg4834Gln) rs141883764 0.00040
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532 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_000492.4(CFTR):c.1865G>A (p.Gly622Asp) rs121908759 0.00039
NM_001164508.2(NEB):c.5503C>T (p.Arg1835Trp) rs199694315 0.00039
NM_001267550.2(TTN):c.53122A>G (p.Lys17708Glu) rs185913848 0.00039
NM_003126.4(SPTA1):c.47A>T (p.Lys16Met) rs201634881 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_182961.4(SYNE1):c.181G>A (p.Val61Ile) rs151156420 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_001142864.4(PIEZO1):c.4252T>C (p.Tyr1418His) rs147153006 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_001267550.2(TTN):c.34571G>A (p.Arg11524Gln) rs201622536 0.00038
NM_001267550.2(TTN):c.49413G>T (p.Trp16471Cys) rs202094100 0.00038
NM_001267550.2(TTN):c.52022G>A (p.Arg17341Gln) rs370390570 0.00038
NM_001267550.2(TTN):c.96016G>A (p.Val32006Met) rs191786700 0.00038
NM_001267550.2(TTN):c.99901G>A (p.Glu33301Lys) rs72648278 0.00038
NM_002972.4(SBF1):c.142-3C>T rs191369963 0.00038
NM_003126.4(SPTA1):c.2182A>G (p.Lys728Glu) rs200438116 0.00038
NM_004625.4(WNT7A):c.1028C>T (p.Thr343Met) rs140491601 0.00038
NM_005502.4(ABCA1):c.5398A>C (p.Asn1800His) rs146292819 0.00038
NM_005591.4(MRE11):c.1727G>A (p.Arg576Gln) rs139461096 0.00038
NM_006876.3(B4GAT1):c.1146C>G (p.Phe382Leu) rs143223962 0.00038
NM_006946.4(SPTBN2):c.3800C>T (p.Ala1267Val) rs148065361 0.00038
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_015046.7(SETX):c.654G>C (p.Lys218Asn) rs117861188 0.00038
NM_015474.4(SAMHD1):c.1593G>C (p.Arg531Ser) rs145735112 0.00038
NM_015512.5(DNAH1):c.3202G>A (p.Val1068Met) rs201455697 0.00038
NM_016373.4(WWOX):c.935C>A (p.Ser312Tyr) rs79399971 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_182961.4(SYNE1):c.12391G>T (p.Gly4131Cys) rs139139296 0.00038
NM_201384.3(PLEC):c.11329G>A (p.Glu3777Lys) rs538589589 0.00038
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg) rs41298442 0.00037
NM_000393.5(COL5A2):c.1976C>T (p.Pro659Leu) rs145404046 0.00037
NM_000426.4(LAMA2):c.4926A>G (p.Thr1642=) rs62421010 0.00037
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 0.00037
NM_000540.3(RYR1):c.12553G>A (p.Ala4185Thr) rs151119428 0.00037
NM_001164508.2(NEB):c.21994G>A (p.Val7332Ile) rs189609282 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_001355436.2(SPTB):c.1027G>A (p.Ala343Thr) rs149837193 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_004972.4(JAK2):c.1849G>T (p.Val617Phe) rs77375493 0.00037
NM_015909.4(NBAS):c.4294G>A (p.Val1432Ile) rs139954703 0.00037
NM_015909.4(NBAS):c.5984G>A (p.Arg1995Gln) rs140373332 0.00037
NM_201384.3(PLEC):c.8065C>T (p.Arg2689Cys) rs373228579 0.00037
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp) rs146379816 0.00036
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr) rs147472391 0.00036
NM_000179.3(MSH6):c.2561A>T (p.Lys854Met) rs34374438 0.00036
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_000384.3(APOB):c.3382C>T (p.Arg1128Cys) rs72653076 0.00036
NM_000426.4(LAMA2):c.8977A>G (p.Ile2993Val) rs145331792 0.00036
NM_000540.3(RYR1):c.1453A>G (p.Met485Val) rs147723844 0.00036
NM_001128840.3(CACNA1D):c.3853G>A (p.Ala1285Thr) rs144474773 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.9488G>A (p.Arg3163His) rs149755500 0.00036
NM_001369.3(DNAH5):c.3179A>T (p.Lys1060Met) rs145672251 0.00036
NM_001609.4(ACADSB):c.303+1G>A rs147936696 0.00036
NM_001739.2(CA5A):c.172G>A (p.Val58Met) rs200539625 0.00036
NM_002016.2(FLG):c.3321del (p.Gly1109fs) rs200519781 0.00036
NM_002303.6(LEPR):c.1835G>A (p.Arg612His) rs144159890 0.00036
NM_004614.5(TK2):c.80C>T (p.Ser27Leu) rs191573607 0.00036
NM_017807.4(OSGEP):c.328T>C (p.Cys110Arg) rs140076803 0.00036
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu) rs28939378 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_032806.6(POMGNT2):c.119G>A (p.Arg40Gln) rs146229269 0.00036
NM_183050.4(BCKDHB):c.411G>A (p.Ala137=) rs142858149 0.00036
NM_201384.3(PLEC):c.5873C>T (p.Thr1958Met) rs200715520 0.00036
NM_201384.3(PLEC):c.6266C>T (p.Ala2089Val) rs782278608 0.00036
NM_203447.4(DOCK8):c.54-1G>T rs192864327 0.00036
NM_206926.2(SELENON):c.1552G>A (p.Glu518Lys) rs200128474 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_000463.3(UGT1A1):c.674T>G (p.Val225Gly) rs35003977 0.00035
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110 0.00035
NM_001267550.2(TTN):c.17224C>T (p.Leu5742Phe) rs72648943 0.00035
NM_001267550.2(TTN):c.2599A>G (p.Ser867Gly) rs148631577 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_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139 0.00035
NM_003126.4(SPTA1):c.1687C>T (p.Arg563Trp) rs369087649 0.00035
NM_004006.3(DMD):c.7321A>C (p.Thr2441Pro) rs146817002 0.00035
NM_004281.4(BAG3):c.821C>T (p.Ser274Leu) rs143919208 0.00035
NM_004551.3(NDUFS3):c.381+6T>C rs377579231 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_182961.4(SYNE1):c.25403G>A (p.Arg8468His) rs143049227 0.00035
NM_201384.3(PLEC):c.3533G>A (p.Arg1178Gln) rs782590380 0.00035
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_000376.3(VDR):c.1016T>C (p.Val339Ala) rs187843998 0.00034
NM_000426.4(LAMA2):c.2009G>A (p.Arg670His) rs149305108 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_000492.4(CFTR):c.374T>C (p.Ile125Thr) rs141723617 0.00034
NM_000501.4(ELN):c.647G>T (p.Gly216Val) rs145612009 0.00034
NM_001142800.2(EYS):c.2137+1G>A rs199740930 0.00034
NM_001164508.2(NEB):c.20162T>C (p.Leu6721Pro) rs111517514 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.75361A>G (p.Ile25121Val) rs199508062 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_002180.3(IGHMBP2):c.1422C>A (p.Asp474Glu) rs61731907 0.00034
NM_004370.6(COL12A1):c.5635G>A (p.Ala1879Thr) rs184585202 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_006118.4(HAX1):c.117_122dup (p.Glu40_Gly41dup) rs781468690 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_020549.5(CHAT):c.2222G>A (p.Arg741Lys) rs114719193 0.00034
NM_144573.4(NEXN):c.613G>A (p.Glu205Lys) rs201447781 0.00034
NM_182914.3(SYNE2):c.13156C>G (p.Gln4386Glu) rs140277551 0.00034
NM_182914.3(SYNE2):c.2270T>C (p.Leu757Ser) rs200319405 0.00034
NM_000271.5(NPC1):c.1937G>A (p.Arg646His) rs112387560 0.00033
NM_000322.5(PRPH2):c.94A>G (p.Ile32Val) rs61755767 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_000553.6(WRN):c.1105C>T (p.Arg369Ter) rs17847577 0.00033
NM_001001548.3(CD36):c.268C>T (p.Pro90Ser) rs75326924 0.00033
NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val) rs121912714 0.00033
NM_001375808.2(LPIN2):c.2671G>A (p.Asp891Asn) rs200648652 0.00033
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys) rs201477273 0.00033
NM_003126.4(SPTA1):c.4733T>A (p.Met1578Lys) rs200648256 0.00033
NM_004369.4(COL6A3):c.776C>T (p.Ala259Val) rs149924028 0.00033
NM_004370.6(COL12A1):c.6752G>A (p.Arg2251His) rs151324784 0.00033
NM_006859.4(LIAS):c.944G>A (p.Arg315His) rs145535775 0.00033
NM_018834.6(MATR3):c.1991A>C (p.Glu664Ala) rs139589527 0.00033
NM_182914.3(SYNE2):c.15857A>G (p.Tyr5286Cys) rs149354607 0.00033
NM_000070.3(CAPN3):c.1543G>A (p.Gly515Arg) rs150226817 0.00032
NM_000089.4(COL1A2):c.2425C>T (p.Pro809Ser) rs145355907 0.00032
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500 0.00032
NM_000098.3(CPT2):c.680C>T (p.Pro227Leu) rs74315298 0.00032
NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser) rs61761869 0.00032
NM_000350.3(ABCA4):c.514G>A (p.Gly172Ser) rs61748532 0.00032
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00032
NM_000719.7(CACNA1C):c.6161A>G (p.Lys2054Arg) rs200588235 0.00032
NM_001130438.3(SPTAN1):c.7319G>A (p.Arg2440Gln) rs141980692 0.00032
NM_001164508.2(NEB):c.11078G>A (p.Arg3693His) rs368915047 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.66673G>A (p.Asp22225Asn) rs72646870 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_001848.3(COL6A1):c.1096G>A (p.Ala366Thr) rs183994910 0.00032
NM_001849.4(COL6A2):c.*4C>T rs370155138 0.00032
NM_003126.4(SPTA1):c.6235C>T (p.Arg2079Trp) rs372075053 0.00032
NM_005188.4(CBL):c.2363G>A (p.Arg788Gln) rs150811339 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_017739.4(POMGNT1):c.1539+1G>A rs138642840 0.00032
NM_018993.4(RIN2):c.41G>A (p.Arg14Gln) rs367797077 0.00032
NM_024301.5(FKRP):c.898G>A (p.Val300Met) rs563033008 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_000057.4(BLM):c.3625T>A (p.Ser1209Thr) rs1801256 0.00031
NM_000152.5(GAA):c.841C>T (p.Arg281Trp) rs142967546 0.00031
NM_000540.3(RYR1):c.7876C>T (p.Leu2626=) rs145446438 0.00031
NM_000540.3(RYR1):c.7976C>T (p.Thr2659Met) rs138325444 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_001142864.4(PIEZO1):c.3181C>G (p.Pro1061Ala) rs748155949 0.00031
NM_001244008.2(KIF1A):c.4927G>A (p.Asp1643Asn) rs200141437 0.00031
NM_001267550.2(TTN):c.104277G>A (p.Lys34759=) rs377391143 0.00031
NM_001267550.2(TTN):c.1297G>A (p.Val433Ile) rs146000949 0.00031
NM_001267550.2(TTN):c.14998C>T (p.Arg5000Cys) rs369933152 0.00031
NM_001267550.2(TTN):c.15986G>A (p.Gly5329Asp) rs202234492 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.53159T>C (p.Ile17720Thr) rs201358641 0.00031
NM_001267550.2(TTN):c.81247T>C (p.Ser27083Pro) rs186273940 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_001458.5(FLNC):c.5954C>T (p.Ser1985Leu) rs200415625 0.00031
NM_001848.3(COL6A1):c.1115A>G (p.Glu372Gly) rs149338158 0.00031
NM_001849.4(COL6A2):c.988G>A (p.Asp330Asn) rs139399166 0.00031
NM_002693.3(POLG):c.3098C>T (p.Ala1033Val) rs551708243 0.00031
NM_003104.6(SORD):c.458C>A (p.Ala153Asp) rs145813597 0.00031
NM_003126.4(SPTA1):c.3839A>G (p.Asp1280Gly) rs200890386 0.00031
NM_004444.5(EPHB4):c.1017G>T (p.Leu339=) rs55867842 0.00031
NM_005228.5(EGFR):c.769G>A (p.Glu257Lys) rs138847501 0.00031
NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs) rs72553875 0.00031
NM_020928.2(ZSWIM6):c.82A>G (p.Ser28Gly) rs1456197449 0.00031
NM_201384.3(PLEC):c.8315G>A (p.Arg2772His) rs201916690 0.00031
NM_000022.4(ADA):c.643G>A (p.Ala215Thr) rs114025668 0.00030
NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter) rs34295337 0.00030
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser) rs138577661 0.00030
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786 0.00030
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152 0.00030
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542 0.00030
NM_001142864.4(PIEZO1):c.7471C>T (p.Arg2491Trp) rs201746476 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_001845.6(COL4A1):c.1735G>A (p.Val579Ile) rs141527136 0.00030
NM_002471.4(MYH6):c.292G>A (p.Glu98Lys) rs140596256 0.00030
NM_002900.3(RBP3):c.1569C>G (p.His523Gln) rs148093336 0.00030
NM_003742.4(ABCB11):c.2620T>C (p.Ser874Pro) rs184334834 0.00030
NM_005529.7(HSPG2):c.8899G>A (p.Ala2967Thr) rs143274889 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_138477.4(CDAN1):c.3524G>A (p.Cys1175Tyr) rs192268080 0.00030
NM_182914.3(SYNE2):c.15446G>A (p.Arg5149His) rs142206385 0.00030
NM_182961.4(SYNE1):c.6920C>T (p.Thr2307Ile) rs141049001 0.00030
NM_201384.3(PLEC):c.4469G>A (p.Arg1490Gln) rs371290504 0.00030
NM_000032.5(ALAS2):c.1244C>T (p.Ala415Val) rs143328343 0.00029
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His) rs201666889 0.00029
NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu) rs141204958 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_000178.4(GSS):c.1388C>T (p.Ala463Val) rs549546640 0.00029
NM_000301.5(PLG):c.2302G>A (p.Glu768Lys) rs199619244 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_000350.3(ABCA4):c.2486C>T (p.Thr829Met) rs139250920 0.00029
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00029
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) rs74315457 0.00029
NM_000540.3(RYR1):c.4026C>A (p.Ser1342Arg) rs182004703 0.00029
NM_000540.3(RYR1):c.79G>A (p.Val27Met) rs143481004 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_001077350.3(NPRL3):c.442C>T (p.Arg148Cys) rs201069648 0.00029
NM_001089.3(ABCA3):c.367G>A (p.Asp123Asn) rs145087575 0.00029
NM_001142864.4(PIEZO1):c.5647C>T (p.Arg1883Trp) rs200031013 0.00029
NM_001164508.2(NEB):c.20098C>A (p.Leu6700Ile) rs202139330 0.00029
NM_001164508.2(NEB):c.8125G>A (p.Val2709Ile) rs368637389 0.00029
NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln) rs199632397 0.00029
NM_001267550.2(TTN):c.1212C>T (p.Tyr404=) rs139187345 0.00029
NM_001267550.2(TTN):c.2686G>A (p.Val896Ile) rs376768790 0.00029
NM_001267550.2(TTN):c.30485C>T (p.Thr10162Met) rs200593368 0.00029
NM_001267550.2(TTN):c.67706G>A (p.Arg22569Gln) rs185620750 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.88720C>T (p.Arg29574Cys) rs200513274 0.00029
NM_001360.3(DHCR7):c.988G>A (p.Val330Met) rs139724817 0.00029
NM_001383.6(DPH1):c.359T>C (p.Leu120Pro) rs200530055 0.00029
NM_001458.5(FLNC):c.1474A>G (p.Lys492Glu) rs118056738 0.00029
NM_001609.4(ACADSB):c.1159G>A (p.Glu387Lys) rs188094280 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_001999.4(FBN2):c.6946A>T (p.Ile2316Phe) rs201220519 0.00029
NM_003126.4(SPTA1):c.2020G>C (p.Glu674Gln) rs201806839 0.00029
NM_004287.5(GOSR2):c.29+8C>T rs573306680 0.00029
NM_005529.7(HSPG2):c.11983T>C (p.Leu3995=) rs141435008 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_014874.4(MFN2):c.2119C>T (p.Arg707Trp) rs119103267 0.00029
NM_017777.4(MKS1):c.368G>A (p.Arg123Gln) rs202112856 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_182961.4(SYNE1):c.3271C>T (p.Arg1091Trp) rs147841761 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_000260.4(MYO7A):c.5495G>A (p.Arg1832Gln) rs372768607 0.00028
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln) rs5742904 0.00028
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000553.6(WRN):c.1909C>T (p.Arg637Trp) rs148286708 0.00028
NM_001164508.2(NEB):c.21838G>A (p.Asp7280Asn) rs200945025 0.00028
NM_001267550.2(TTN):c.62572A>G (p.Thr20858Ala) rs200689750 0.00028
NM_001267550.2(TTN):c.74602A>G (p.Ile24868Val) rs72646898 0.00028
NM_001384140.1(PCDH15):c.1028G>A (p.Arg343Lys) rs141169746 0.00028
NM_001492.6(GDF1):c.1091T>C (p.Met364Thr) rs374016704 0.00028
NM_002465.4(MYBPC1):c.524T>C (p.Phe175Ser) rs546207140 0.00028
NM_005529.7(HSPG2):c.8961C>T (p.Gly2987=) rs369899077 0.00028
NM_013382.7(POMT2):c.806G>A (p.Ser269Asn) rs375217032 0.00028
NM_014208.3(DSPP):c.368G>C (p.Gly123Ala) rs199683760 0.00028
NM_014704.4(CEP104):c.550G>C (p.Glu184Gln) rs146922115 0.00028
NM_015404.4(WHRN):c.2203G>A (p.Val735Ile) rs373552185 0.00028
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu) rs138249161 0.00028
NM_020207.7(ERCC6L2):c.19C>T (p.Gln7Ter) rs778926161 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_152490.5(B3GALNT2):c.575G>A (p.Arg192His) rs201345883 0.00028
NM_182961.4(SYNE1):c.24642+3A>G rs117346210 0.00028
NM_198994.3(TGM6):c.38G>A (p.Arg13Gln) rs201694328 0.00028
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala) rs28940279 0.00027
NM_000137.4(FAH):c.1062+5G>A rs80338901 0.00027
NM_000520.6(HEXA):c.1073+41C>T rs367719010 0.00027
NM_000540.3(RYR1):c.13547A>G (p.Glu4516Gly) rs149984626 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_001103.4(ACTN2):c.1484C>T (p.Thr495Met) rs200248944 0.00027
NM_001142864.4(PIEZO1):c.5863C>T (p.Arg1955Cys) rs547409918 0.00027
NM_001267550.2(TTN):c.20792A>G (p.Asn6931Ser) rs200866883 0.00027
NM_001267550.2(TTN):c.40903G>A (p.Ala13635Thr) rs191699632 0.00027
NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala) rs34706299 0.00027
NM_001267550.2(TTN):c.4262G>A (p.Arg1421Gln) rs147254212 0.00027
NM_001267550.2(TTN):c.62317C>A (p.Leu20773Met) rs375173874 0.00027
NM_001267550.2(TTN):c.82402A>C (p.Lys27468Gln) rs201958805 0.00027
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp) rs138060032 0.00027
NM_001684.5(ATP2B4):c.1996G>A (p.Ala666Thr) rs138521935 0.00027
NM_001930.4(DHPS):c.1014+1G>A rs142633494 0.00027
NM_001953.5(TYMP):c.622G>A (p.Val208Met) rs121913039 0.00027
NM_002474.3(MYH11):c.2075C>T (p.Ala692Val) rs148893135 0.00027
NM_004369.4(COL6A3):c.7029+10C>T rs376525317 0.00027
NM_005529.7(HSPG2):c.11496C>T (p.Phe3832=) rs536882233 0.00027
NM_005529.7(HSPG2):c.8576C>T (p.Thr2859Met) rs139855779 0.00027
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg) rs121908641 0.00027
NM_133642.5(LARGE1):c.391G>A (p.Val131Ile) rs56239539 0.00027
NM_152305.3(POGLUT1):c.1022+5G>A rs200853598 0.00027
NM_182914.3(SYNE2):c.11047T>A (p.Ser3683Thr) rs199977941 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_183235.3(RAB27A):c.560G>A (p.Arg187Gln) rs182849552 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_000100.4(CSTB):c.67-1G>C rs147484110 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_000232.5(SGCB):c.243+6T>A rs146888744 0.00026
NM_000435.3(NOTCH3):c.3170C>T (p.Ala1057Val) rs368146879 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_000639.3(FASLG):c.360G>C (p.Gln120His) rs372615226 0.00026
NM_001077365.2(POMT1):c.2097C>T (p.Tyr699=) rs138902646 0.00026
NM_001244008.2(KIF1A):c.5168C>T (p.Ala1723Val) rs199804623 0.00026
NM_001267550.2(TTN):c.107671G>A (p.Gly35891Ser) rs201298767 0.00026
NM_001267550.2(TTN):c.32071G>A (p.Ala10691Thr) rs371452173 0.00026
NM_001267550.2(TTN):c.46387G>A (p.Gly15463Arg) rs200042932 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.64811G>A (p.Arg21604Gln) rs188996850 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.77878G>A (p.Glu25960Lys) rs367624488 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.4097A>G (p.Asn1366Ser) rs185746835 0.00026
NM_001458.5(FLNC):c.5284C>T (p.Arg1762Cys) rs201926772 0.00026
NM_002471.4(MYH6):c.831G>T (p.Gln277His) rs140660481 0.00026
NM_003060.4(SLC22A5):c.641C>T (p.Ala214Val) rs386134199 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_003126.4(SPTA1):c.6549-4C>G rs199640503 0.00026
NM_004287.5(GOSR2):c.336+1G>A rs141554661 0.00026
NM_004369.4(COL6A3):c.3118G>A (p.Val1040Ile) rs78427077 0.00026
NM_004370.6(COL12A1):c.4613A>G (p.Asn1538Ser) rs115246424 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_006516.4(SLC2A1):c.1216G>A (p.Val406Ile) rs148800393 0.00026
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_015295.3(SMCHD1):c.3209T>C (p.Ile1070Thr) rs113434340 0.00026
NM_015375.3(DSTYK):c.2216G>A (p.Arg739Gln) rs369367865 0.00026
NM_017617.5(NOTCH1):c.2434G>A (p.Gly812Arg) rs201620755 0.00026
NM_020631.6(PLEKHG5):c.440-2A>G rs144750655 0.00026
NM_022464.5(SIL1):c.430A>G (p.Met144Val) rs199707852 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_182914.3(SYNE2):c.12307-5T>C rs374468002 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_000081.4(LYST):c.4578T>A (p.Asn1526Lys) rs117609949 0.00025
NM_000098.3(CPT2):c.236A>C (p.Lys79Thr) rs150888506 0.00025
NM_000341.4(SLC3A1):c.592del (p.Ala198fs) rs778000327 0.00025
NM_000342.4(SLC4A1):c.1742C>A (p.Thr581Asn) rs142161945 0.00025
NM_000441.2(SLC26A4):c.-3-2A>G rs397516411 0.00025
NM_000540.3(RYR1):c.1598G>A (p.Arg533His) rs144336148 0.00025
NM_000540.3(RYR1):c.5459G>T (p.Arg1820Leu) rs750141316 0.00025
NM_000540.3(RYR1):c.6478G>A (p.Gly2160Ser) rs143398211 0.00025
NM_001083614.2(EARS2):c.328G>A (p.Gly110Ser) rs201842633 0.00025
NM_001242896.3(DEPDC5):c.3311C>T (p.Ser1104Leu) rs79027628 0.00025
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly) rs144078282 0.00025
NM_001267550.2(TTN):c.102190G>A (p.Ala34064Thr) rs200237973 0.00025
NM_001267550.2(TTN):c.19547A>T (p.Lys6516Met) rs199796249 0.00025
NM_001267550.2(TTN):c.44497G>A (p.Val14833Ile) rs373168798 0.00025
NM_001267550.2(TTN):c.48394C>T (p.Arg16132Cys) rs2303830 0.00025
NM_001267550.2(TTN):c.99162G>A (p.Lys33054=) rs368686031 0.00025
NM_001355436.2(SPTB):c.982C>T (p.Arg328Cys) rs143293179 0.00025
NM_001849.4(COL6A2):c.2585G>A (p.Arg862Gln) rs367658663 0.00025
NM_001918.5(DBT):c.670G>T (p.Glu224Ter) rs74103423 0.00025
NM_002206.3(ITGA7):c.3268C>T (p.Gln1090Ter) rs200390529 0.00025
NM_003126.4(SPTA1):c.7183T>C (p.Tyr2395His) rs144692310 0.00025
NM_004370.6(COL12A1):c.6922C>G (p.Pro2308Ala) rs55997127 0.00025
NM_005198.5(CHKB):c.263C>T (p.Pro88Leu) rs146163970 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_015450.3(POT1):c.340A>G (p.Ile114Val) rs146552802 0.00025
NM_016146.6(TRAPPC4):c.454+3A>G rs375776811 0.00025
NM_020297.4(ABCC9):c.305T>C (p.Leu102Pro) rs374659816 0.00025
NM_020745.4(AARS2):c.1774C>T (p.Arg592Trp) rs138119149 0.00025
NM_021942.6(TRAPPC11):c.2508G>A (p.Gln836=) rs201868142 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_170707.4(LMNA):c.1634G>A (p.Arg545His) rs142191737 0.00025
NM_201384.3(PLEC):c.5315C>T (p.Ala1772Val) rs782439290 0.00025
NM_201384.3(PLEC):c.5632C>T (p.Arg1878Trp) rs782312793 0.00025
NM_201384.3(PLEC):c.5633G>A (p.Arg1878Gln) rs373617951 0.00025
NM_201384.3(PLEC):c.7339C>T (p.Arg2447Cys) rs781936848 0.00025
NM_000052.7(ATP7A):c.1510G>A (p.Ala504Thr) rs781786942 0.00024
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967 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.29G>A (p.Arg10Gln) rs199752361 0.00024
NM_000334.4(SCN4A):c.4048G>A (p.Val1350Met) rs200274258 0.00024
NM_000342.4(SLC4A1):c.337G>A (p.Val113Ile) rs142757938 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_001040142.2(SCN2A):c.952G>A (p.Glu318Lys) rs149987700 0.00024
NM_001080442.3(SLC38A8):c.848A>C (p.Asp283Ala) rs139373929 0.00024
NM_001114134.2(EPB42):c.1487C>T (p.Thr496Met) rs199787216 0.00024
NM_001128840.3(CACNA1D):c.6444G>A (p.Glu2148=) rs373851693 0.00024
NM_001142864.4(PIEZO1):c.6154G>A (p.Val2052Ile) rs564395221 0.00024
NM_001164508.2(NEB):c.22108C>G (p.Pro7370Ala) rs200304547 0.00024
NM_001199799.2(ILDR1):c.772C>T (p.Gln258Ter) rs142746163 0.00024
NM_001267550.2(TTN):c.1050C>T (p.Tyr350=) rs375448572 0.00024
NM_001267550.2(TTN):c.16477G>A (p.Gly5493Ser) rs377042940 0.00024
NM_001267550.2(TTN):c.33732G>A (p.Pro11244=) rs190604150 0.00024
NM_001267550.2(TTN):c.46451G>A (p.Arg15484Lys) rs72677229 0.00024
NM_001267550.2(TTN):c.46928A>G (p.His15643Arg) rs368502650 0.00024
NM_001267550.2(TTN):c.59113C>T (p.Arg19705Cys) rs72646839 0.00024
NM_001267550.2(TTN):c.61409T>C (p.Ile20470Thr) rs202012910 0.00024
NM_001267550.2(TTN):c.62098A>G (p.Asn20700Asp) rs151193056 0.00024
NM_001267550.2(TTN):c.66430G>A (p.Ala22144Thr) rs183276016 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_001267550.2(TTN):c.95884A>G (p.Asn31962Asp) rs369087584 0.00024
NM_001355436.2(SPTB):c.2696C>T (p.Thr899Ile) rs373593599 0.00024
NM_001386393.1(PANK2):c.1231G>A (p.Gly411Arg) rs137852959 0.00024
NM_001845.6(COL4A1):c.367C>T (p.Pro123Ser) rs138503916 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_003036.4(SKI):c.1321C>T (p.Arg441Trp) rs201613746 0.00024
NM_003126.4(SPTA1):c.329A>T (p.Glu110Val) rs368253777 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.8025+20C>T rs146363738 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_017909.4(RMND1):c.713A>G (p.Asn238Ser) rs144972972 0.00024
NM_020549.5(CHAT):c.858C>T (p.Thr286=) rs200423662 0.00024
NM_031475.3(ESPN):c.337C>T (p.Arg113Cys) rs143577178 0.00024
NM_032634.4(PIGO):c.2635G>A (p.Val879Ile) rs139155910 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.5149C>T (p.Arg1717Trp) rs192022872 0.00024
NM_000023.4(SGCA):c.680C>G (p.Pro227Arg) rs201131924 0.00023
NM_000097.7(CPOX):c.1292A>G (p.His431Arg) rs143456081 0.00023
NM_000232.5(SGCB):c.31C>G (p.Gln11Glu) rs752492870 0.00023
NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe) rs1800408 0.00023
NM_000342.4(SLC4A1):c.1337T>C (p.Val446Ala) rs149362848 0.00023
NM_000342.4(SLC4A1):c.1972G>A (p.Glu658Lys) rs75731670 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_000540.3(RYR1):c.7026C>T (p.Asn2342=) rs202061237 0.00023
NM_001005361.3(DNM2):c.958G>A (p.Asp320Asn) rs150613209 0.00023
NM_001009994.3(RIPPLY2):c.238A>T (p.Arg80Ter) rs201419367 0.00023
NM_001267550.2(TTN):c.3605T>C (p.Val1202Ala) rs150667217 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_001375524.1(TRRAP):c.634-3C>T rs113339948 0.00023
NM_001458.5(FLNC):c.2068T>C (p.Phe690Leu) rs200943714 0.00023
NM_001845.6(COL4A1):c.329T>C (p.Ile110Thr) rs138269346 0.00023
NM_001854.4(COL11A1):c.4718C>T (p.Ser1573Leu) rs143531636 0.00023
NM_001918.5(DBT):c.901C>T (p.Arg301Cys) rs185492864 0.00023
NM_004366.6(CLCN2):c.2062C>T (p.Arg688Trp) rs368380934 0.00023
NM_004370.6(COL12A1):c.5839C>A (p.Pro1947Thr) rs191233787 0.00023
NM_004370.6(COL12A1):c.8548A>G (p.Met2850Val) rs369104842 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_005996.4(TBX3):c.700A>G (p.Ile234Val) rs117465019 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_018127.7(ELAC2):c.347C>T (p.Ser116Phe) rs140665334 0.00023
NM_020549.5(CHAT):c.754C>T (p.His252Tyr) rs376994468 0.00023
NM_020822.3(KCNT1):c.474G>A (p.Ser158=) rs139076605 0.00023
NM_133433.4(NIPBL):c.5101T>C (p.Ser1701Pro) rs139819353 0.00023
NM_182914.3(SYNE2):c.13792G>A (p.Glu4598Lys) rs144702281 0.00023
NM_182961.4(SYNE1):c.9377C>G (p.Ser3126Cys) rs139089832 0.00023
NM_201384.3(PLEC):c.12837C>T (p.Pro4279=) rs759030267 0.00023
NM_201384.3(PLEC):c.3964C>T (p.His1322Tyr) rs200411401 0.00023
NM_201384.3(PLEC):c.7061C>T (p.Ala2354Val) rs370003608 0.00023
NM_000104.4(CYP1B1):c.171G>A (p.Trp57Ter) rs72549387 0.00022
NM_000237.3(LPL):c.644G>A (p.Gly215Glu) rs118204057 0.00022
NM_000369.5(TSHR):c.202C>T (p.Pro68Ser) rs142063461 0.00022
NM_000379.4(XDH):c.1037C>T (p.Ala346Val) rs142388231 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_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr) rs201762017 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_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.27625A>G (p.Lys9209Glu) rs148355969 0.00022
NM_001267550.2(TTN):c.32026A>G (p.Lys10676Glu) rs200952728 0.00022
NM_001267550.2(TTN):c.33340+5A>C rs373367032 0.00022
NM_001267550.2(TTN):c.33911-6_33911-5insG rs765503214 0.00022
NM_001267550.2(TTN):c.7060C>T (p.Arg2354Cys) rs145039979 0.00022
NM_001267550.2(TTN):c.84923A>C (p.Gln28308Pro) rs201674674 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_001457.4(FLNB):c.4062-13C>G rs143371162 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_004370.6(COL12A1):c.6448T>C (p.Tyr2150His) rs200450866 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_006567.5(FARS2):c.407C>A (p.Pro136His) rs199863563 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_017780.4(CHD7):c.7085G>A (p.Ser2362Asn) rs139876661 0.00022
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_032119.4(ADGRV1):c.9643G>A (p.Glu3215Lys) rs199499672 0.00022
NM_033109.5(PNPT1):c.1231G>A (p.Val411Ile) rs551750608 0.00022
NM_182914.3(SYNE2):c.7708G>A (p.Glu2570Lys) rs376507352 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_000091.5(COL4A3):c.221C>T (p.Pro74Leu) rs373975901 0.00021
NM_000178.4(GSS):c.707G>A (p.Arg236Gln) rs34239729 0.00021
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636 0.00021
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu) rs121918167 0.00021
NM_000359.3(TGM1):c.944G>T (p.Arg315Leu) rs143473912 0.00021
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met) rs150326995 0.00021
NM_001061.7(TBXAS1):c.1235G>A (p.Arg412Gln) rs199422117 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_001142864.4(PIEZO1):c.3324C>T (p.Cys1108=) rs746126066 0.00021
NM_001145860.2(POP1):c.1537C>T (p.Arg513Ter) rs149102421 0.00021
NM_001256545.2(MEGF10):c.50G>A (p.Cys17Tyr) rs145733370 0.00021
NM_001267550.2(TTN):c.17116G>A (p.Glu5706Lys) rs376593556 0.00021
NM_001267550.2(TTN):c.21656C>T (p.Ser7219Phe) rs201029552 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.54631C>A (p.Pro18211Thr) rs727504192 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.58363G>A (p.Gly19455Ser) rs191927501 0.00021
NM_001267550.2(TTN):c.71723G>A (p.Gly23908Asp) rs540161344 0.00021
NM_001267550.2(TTN):c.7957T>C (p.Leu2653=) rs201837864 0.00021
NM_001267550.2(TTN):c.88984G>A (p.Gly29662Ser) rs187460377 0.00021
NM_001348768.2(HECW2):c.872G>A (p.Arg291Gln) rs369637193 0.00021
NM_001378183.1(PIEZO2):c.1006G>A (p.Ala336Thr) rs368601054 0.00021
NM_001384732.1(CPLANE1):c.7367C>T (p.Pro2456Leu) rs146595129 0.00021
NM_001458.5(FLNC):c.2635C>T (p.Arg879Cys) rs374983276 0.00021
NM_001458.5(FLNC):c.7499G>A (p.Ser2500Asn) rs371244800 0.00021
NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu) rs142770543 0.00021
NM_002230.4(JUP):c.2207C>T (p.Pro736Leu) rs151178348 0.00021
NM_002471.4(MYH6):c.4505G>A (p.Arg1502Gln) rs199936506 0.00021
NM_003126.4(SPTA1):c.2216G>A (p.Arg739His) rs145972324 0.00021
NM_003126.4(SPTA1):c.6851A>G (p.Asp2284Gly) rs374589766 0.00021
NM_004369.4(COL6A3):c.3040A>G (p.Lys1014Glu) rs114284669 0.00021
NM_005045.4(RELN):c.8863C>T (p.Arg2955Cys) rs114501042 0.00021
NM_006005.3(WFS1):c.2563T>C (p.Ser855Pro) rs141833472 0.00021
NM_006231.4(POLE):c.1645T>C (p.Ser549Pro) rs115558715 0.00021
NM_012275.3(IL36RN):c.115+6T>C rs148755083 0.00021
NM_012330.4(KAT6B):c.4211G>A (p.Arg1404His) rs563033366 0.00021
NM_014244.5(ADAMTS2):c.2893G>A (p.Glu965Lys) rs144138766 0.00021
NM_014336.5(AIPL1):c.737A>C (p.Tyr246Ser) rs138585919 0.00021
NM_014946.4(SPAST):c.1625A>G (p.Asp542Gly) rs142053576 0.00021
NM_020754.4(ARHGAP31):c.2323G>A (p.Gly775Ser) rs147415811 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_152743.4(BRAT1):c.294dup (p.Leu99fs) rs776913277 0.00021
NM_182961.4(SYNE1):c.3850C>T (p.Arg1284Trp) rs140780725 0.00021
NM_182961.4(SYNE1):c.4477A>G (p.Ile1493Val) rs139544072 0.00021
NM_199242.3(UNC13D):c.118-308C>T rs959968589 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_000037.4(ANK1):c.2096G>A (p.Arg699Gln) rs150032875 0.00020
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln) rs63750361 0.00020
NM_000277.3(PAH):c.165T>G (p.Phe55Leu) rs199475598 0.00020
NM_000334.4(SCN4A):c.2704G>A (p.Gly902Ser) rs200517944 0.00020
NM_000337.6(SGCD):c.848A>G (p.Gln283Arg) rs397516338 0.00020
NM_000342.4(SLC4A1):c.1258G>A (p.Ala420Thr) rs142905862 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_001142864.4(PIEZO1):c.5920A>G (p.Ile1974Val) rs753862254 0.00020
NM_001164508.2(NEB):c.6381T>A (p.Asp2127Glu) rs368302286 0.00020
NM_001267550.2(TTN):c.28829G>A (p.Ser9610Asn) rs371759532 0.00020
NM_001267550.2(TTN):c.30389G>A (p.Arg10130His) rs373355159 0.00020
NM_001267550.2(TTN):c.32767A>C (p.Lys10923Gln) rs367720439 0.00020
NM_001267550.2(TTN):c.58796C>T (p.Thr19599Ile) rs367816473 0.00020
NM_001267550.2(TTN):c.63352C>T (p.Arg21118Trp) rs200726948 0.00020
NM_001267550.2(TTN):c.69853G>A (p.Glu23285Lys) rs376870149 0.00020
NM_001267550.2(TTN):c.93244G>A (p.Glu31082Lys) rs199663613 0.00020
NM_001267550.2(TTN):c.98826C>G (p.Asp32942Glu) rs190967471 0.00020
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401 0.00020
NM_001845.6(COL4A1):c.3946C>G (p.Gln1316Glu) rs377122126 0.00020
NM_002578.5(PAK3):c.1579A>G (p.Ser527Gly) rs200474454 0.00020
NM_014915.3(ANKRD26):c.521C>G (p.Ala174Gly) rs201818373 0.00020
NM_015909.4(NBAS):c.5185T>G (p.Phe1729Val) rs778307927 0.00020
NM_016169.4(SUFU):c.1445C>T (p.Pro482Leu) rs765358771 0.00020
NM_017433.5(MYO3A):c.4681C>T (p.Arg1561Ter) rs138593211 0.00020
NM_021625.5(TRPV4):c.1378C>T (p.Arg460Trp) rs34227547 0.00020
NM_030777.4(SLC2A10):c.317C>G (p.Ala106Gly) rs144095826 0.00020
NM_152618.3(BBS12):c.1502C>T (p.Thr501Met) rs138011813 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_000037.4(ANK1):c.3298G>A (p.Val1100Ile) rs147741842 0.00019
NM_000081.4(LYST):c.3898A>G (p.Ile1300Val) rs199855658 0.00019
NM_000083.3(CLCN1):c.180+3A>T rs202217420 0.00019
NM_000092.5(COL4A4):c.865C>T (p.Arg289Cys) rs371904688 0.00019
NM_000152.5(GAA):c.693-4G>T rs200088236 0.00019
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe) rs150518260 0.00019
NM_000252.3(MTM1):c.1052A>G (p.Lys351Arg) rs150430628 0.00019
NM_000256.3(MYBPC3):c.74G>A (p.Ser25Asn) rs371140684 0.00019
NM_000271.5(NPC1):c.2524T>C (p.Phe842Leu) rs190298665 0.00019
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679 0.00019
NM_000350.3(ABCA4):c.1592A>G (p.Glu531Gly) rs145718830 0.00019
NM_000369.5(TSHR):c.1637G>A (p.Trp546Ter) rs121908866 0.00019
NM_000372.5(TYR):c.823G>T (p.Val275Phe) rs104894314 0.00019
NM_000426.4(LAMA2):c.2325C>A (p.Asn775Lys) rs139351727 0.00019
NM_000426.4(LAMA2):c.4909G>A (p.Glu1637Lys) rs138303386 0.00019
NM_000487.6(ARSA):c.605G>A (p.Arg202His) rs201794808 0.00019
NM_000527.5(LDLR):c.1546G>A (p.Gly516Ser) rs141673997 0.00019
NM_000540.3(RYR1):c.2822C>T (p.Ala941Val) rs748568687 0.00019
NM_000540.3(RYR1):c.7141G>A (p.Glu2381Lys) rs148426762 0.00019
NM_000540.3(RYR1):c.89A>T (p.Glu30Val) rs145771708 0.00019
NM_000553.6(WRN):c.835C>T (p.Arg279Trp) rs199923241 0.00019
NM_001081.4(CUBN):c.5428C>T (p.Arg1810Ter) rs143944436 0.00019
NM_001101362.3(KBTBD13):c.331G>A (p.Asp111Asn) rs567309902 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.3631C>T (p.Arg1211Cys) rs142506765 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_001142864.4(PIEZO1):c.7420G>A (p.Val2474Met) rs200243384 0.00019
NM_001243177.4(ALDOA):c.668A>G (p.Asn223Ser) rs142957871 0.00019
NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln) rs368321767 0.00019
NM_001267550.2(TTN):c.101708G>A (p.Arg33903His) rs72629782 0.00019
NM_001267550.2(TTN):c.105128G>A (p.Arg35043His) rs370137295 0.00019
NM_001267550.2(TTN):c.17871A>T (p.Gln5957His) rs181067357 0.00019
NM_001267550.2(TTN):c.21721G>A (p.Val7241Ile) rs367854582 0.00019
NM_001267550.2(TTN):c.23387G>A (p.Arg7796Gln) rs267599059 0.00019
NM_001267550.2(TTN):c.23455G>C (p.Glu7819Gln) rs201420077 0.00019
NM_001267550.2(TTN):c.31114G>C (p.Glu10372Gln) rs200831060 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.50850C>A (p.Asp16950Glu) rs200700386 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.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_001289808.2(CRYAB):c.116C>T (p.Pro39Leu) rs149787233 0.00019
NM_001355436.2(SPTB):c.6484G>A (p.Glu2162Lys) rs375816870 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_001369.3(DNAH5):c.10815del (p.Pro3606fs) rs397515540 0.00019
NM_001384732.1(CPLANE1):c.7883A>T (p.Glu2628Val) rs200930248 0.00019
NM_001458.5(FLNC):c.1354G>A (p.Val452Met) rs192163925 0.00019
NM_001458.5(FLNC):c.2128G>A (p.Asp710Asn) rs370035829 0.00019
NM_001845.6(COL4A1):c.1820G>T (p.Gly607Val) rs148781420 0.00019
NM_001845.6(COL4A1):c.3634A>T (p.Met1212Leu) rs199557190 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_004415.4(DSP):c.3862A>C (p.Lys1288Gln) rs138907450 0.00019
NM_005529.7(HSPG2):c.11482G>A (p.Glu3828Lys) rs200997062 0.00019
NM_006019.4(TCIRG1):c.1213G>A (p.Gly405Arg) rs137853150 0.00019
NM_012210.4(TRIM32):c.521C>T (p.Ser174Phe) rs138699534 0.00019
NM_012330.4(KAT6B):c.1268C>G (p.Ser423Cys) rs770325540 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_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_031889.3(ENAM):c.1259_1260insAG (p.Pro422fs) rs587776588 0.00019
NM_058179.4(PSAT1):c.296C>T (p.Ala99Val) rs587777778 0.00019
NM_080680.3(COL11A2):c.1002G>C (p.Glu334Asp) rs34415548 0.00019
NM_173551.5(ANKS6):c.1322A>G (p.Gln441Arg) rs377750405 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.13768A>G (p.Asn4590Asp) rs199761238 0.00019
NM_198576.4(AGRN):c.1864C>T (p.Arg622Trp) rs142143178 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_000069.3(CACNA1S):c.1903A>G (p.Met635Val) rs201784750 0.00018
NM_000159.4(GCDH):c.572T>C (p.Met191Thr) rs149120354 0.00018
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys) rs121913059 0.00018
NM_000219.6(KCNE1):c.118G>A (p.Gly40Ser) rs778439872 0.00018
NM_000324.3(RHAG):c.1101C>T (p.Ser367=) rs139371066 0.00018
NM_000426.4(LAMA2):c.5558T>G (p.Ile1853Arg) rs141911213 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.4911G>A (p.Ala1637=) rs370350821 0.00018
NM_000642.3(AGL):c.1537A>T (p.Thr513Ser) rs143987049 0.00018
NM_001142864.4(PIEZO1):c.4036T>G (p.Ser1346Ala) rs373732822 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_001267550.2(TTN):c.58397G>C (p.Gly19466Ala) rs201922910 0.00018
NM_001267550.2(TTN):c.58971A>C (p.Glu19657Asp) rs200728232 0.00018
NM_001267550.2(TTN):c.80555G>A (p.Arg26852His) rs202149931 0.00018
NM_001267550.2(TTN):c.93803A>C (p.Lys31268Thr) rs200766837 0.00018
NM_001363711.2(DUOX2):c.1825C>T (p.Pro609Ser) rs201221237 0.00018
NM_001458.5(FLNC):c.1924G>A (p.Val642Ile) rs369387744 0.00018
NM_003060.4(SLC22A5):c.695C>T (p.Thr232Met) rs114269482 0.00018
NM_003126.4(SPTA1):c.5081G>A (p.Arg1694His) rs201822255 0.00018
NM_005373.3(MPL):c.79+2T>A rs146249964 0.00018
NM_005530.3(IDH3A):c.938T>C (p.Met313Thr) rs149862950 0.00018
NM_005592.4(MUSK):c.2368G>A (p.Val790Met) rs199476083 0.00018
NM_012452.3(TNFRSF13B):c.236A>G (p.Tyr79Cys) rs72553876 0.00018
NM_014270.5(SLC7A9):c.313G>A (p.Gly105Arg) rs121908480 0.00018
NM_014915.3(ANKRD26):c.2325A>G (p.Ser775=) rs374641885 0.00018
NM_015662.3(IFT172):c.4795C>T (p.Arg1599Cys) rs186020523 0.00018
NM_138694.4(PKHD1):c.3241C>T (p.Arg1081Cys) rs200986136 0.00018
NM_152564.5(VPS13B):c.9369C>T (p.Cys3123=) rs745668942 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.4676G>A (p.Arg1559Gln) rs371895113 0.00018
NM_201384.3(PLEC):c.6416G>A (p.Arg2139His) rs372652727 0.00018
NM_000037.4(ANK1):c.3763C>T (p.Arg1255Cys) rs148275567 0.00017
NM_000038.6(APC):c.3479C>A (p.Thr1160Lys) rs201004111 0.00017
NM_000142.5(FGFR3):c.1550A>G (p.Lys517Arg) rs139707740 0.00017
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp) rs121434369 0.00017
NM_000218.3(KCNQ1):c.1352G>A (p.Arg451Gln) rs199472781 0.00017
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln) rs141498002 0.00017
NM_000334.4(SCN4A):c.4519G>A (p.Val1507Ile) rs140517911 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_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096 0.00017
NM_000426.4(LAMA2):c.7985T>C (p.Val2662Ala) rs138732723 0.00017
NM_000540.3(RYR1):c.2679C>G (p.Gly893=) rs765657226 0.00017
NM_000719.7(CACNA1C):c.4140+4G>A rs111442547 0.00017
NM_001001548.3(CD36):c.1079T>G (p.Leu360Ter) rs56381858 0.00017
NM_001002294.3(FMO3):c.1474C>T (p.Arg492Trp) rs72549334 0.00017
NM_001035.3(RYR2):c.1939C>T (p.Arg647Cys) rs202040519 0.00017
NM_001035.3(RYR2):c.5294C>G (p.Ser1765Cys) rs564806219 0.00017
NM_001077365.2(POMT1):c.586G>A (p.Ala196Thr) rs199498900 0.00017
NM_001103.4(ACTN2):c.1106C>T (p.Ser369Leu) rs747400815 0.00017
NM_001130987.2(DYSF):c.772G>A (p.Val258Met) rs150345121 0.00017
NM_001142864.4(PIEZO1):c.757G>A (p.Gly253Arg) rs142027562 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_001164508.2(NEB):c.4149C>T (p.Thr1383=) rs148794372 0.00017
NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp) rs138680796 0.00017
NM_001267550.2(TTN):c.106349C>G (p.Thr35450Ser) rs371022420 0.00017
NM_001267550.2(TTN):c.106955G>A (p.Arg35652Gln) rs200497615 0.00017
NM_001267550.2(TTN):c.14486A>C (p.Gln4829Pro) rs375177753 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.25877A>G (p.Asn8626Ser) rs200355367 0.00017
NM_001267550.2(TTN):c.39085C>A (p.Pro13029Thr) rs397517553 0.00017
NM_001267550.2(TTN):c.40352C>A (p.Pro13451His) rs370048456 0.00017
NM_001267550.2(TTN):c.44593G>A (p.Glu14865Lys) rs543102139 0.00017
NM_001267550.2(TTN):c.50212G>A (p.Glu16738Lys) rs148018042 0.00017
NM_001267550.2(TTN):c.52826A>T (p.Gln17609Leu) rs368820294 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.62567A>G (p.Tyr20856Cys) rs373867080 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_001267550.2(TTN):c.84203G>C (p.Ser28068Thr) rs72648219 0.00017
NM_001267550.2(TTN):c.92696T>C (p.Ile30899Thr) rs373727636 0.00017
NM_001351132.2(PEX5):c.316+3G>A rs200776790 0.00017
NM_001355436.2(SPTB):c.2805-5G>A rs760218658 0.00017
NM_001453.3(FOXC1):c.1486G>A (p.Gly496Ser) rs775345164 0.00017
NM_001848.3(COL6A1):c.2091G>A (p.Met697Ile) rs372750707 0.00017
NM_001985.3(ETFB):c.577G>A (p.Ala193Thr) rs200186078 0.00017
NM_003070.5(SMARCA2):c.4516A>T (p.Ile1506Phe) rs147135956 0.00017
NM_003126.4(SPTA1):c.466C>T (p.Arg156Trp) rs377051298 0.00017
NM_004006.3(DMD):c.3379C>G (p.Leu1127Val) rs141887693 0.00017
NM_004172.5(SLC1A3):c.985G>A (p.Ala329Thr) rs200243548 0.00017
NM_005502.4(ABCA1):c.4250G>A (p.Arg1417His) rs116034780 0.00017
NM_005529.7(HSPG2):c.8554G>A (p.Gly2852Arg) rs199942544 0.00017
NM_005633.4(SOS1):c.3347-1G>A rs141565234 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_015506.3(MMACHC):c.617G>A (p.Arg206Gln) rs371753672 0.00017
NM_016035.5(COQ4):c.718C>T (p.Arg240Cys) rs143441644 0.00017
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe) rs202020308 0.00017
NM_018834.6(MATR3):c.1132G>A (p.Ala378Thr) rs201075828 0.00017
NM_021957.4(GYS2):c.1889C>T (p.Thr630Met) rs140646346 0.00017
NM_025152.3(NUBPL):c.166G>A (p.Gly56Arg) rs200401432 0.00017
NM_033419.5(PGAP3):c.320C>T (p.Ser107Leu) rs202146344 0.00017
NM_152490.5(B3GALNT2):c.169G>A (p.Val57Met) rs142756842 0.00017
NM_152594.3(SPRED1):c.124G>A (p.Val42Ile) rs147204964 0.00017
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851 0.00017
NM_182914.3(SYNE2):c.19136G>A (p.Arg6379His) rs150629598 0.00017
NM_201384.3(PLEC):c.10011G>A (p.Thr3337=) rs367762942 0.00017
NM_201384.3(PLEC):c.11207C>T (p.Pro3736Leu) rs77146441 0.00017
NM_201384.3(PLEC):c.4652G>A (p.Arg1551His) rs374991369 0.00017
NM_201384.3(PLEC):c.4800C>T (p.His1600=) rs149044728 0.00017
NM_201384.3(PLEC):c.6971G>A (p.Arg2324Gln) rs561571844 0.00017
NM_201384.3(PLEC):c.7383G>T (p.Lys2461Asn) rs371673069 0.00017
NM_000053.4(ATP7B):c.445G>A (p.Val149Met) rs200606656 0.00016
NM_000069.3(CACNA1S):c.2593C>T (p.Arg865Cys) rs201205904 0.00016
NM_000069.3(CACNA1S):c.262A>G (p.Lys88Glu) rs140330831 0.00016
NM_000080.4(CHRNE):c.797C>T (p.Ala266Val) rs201463598 0.00016
NM_000083.3(CLCN1):c.314G>A (p.Arg105His) rs756353660 0.00016
NM_000090.4(COL3A1):c.560C>T (p.Thr187Ile) rs371583734 0.00016
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln) rs149968110 0.00016
NM_000157.4(GBA1):c.882T>G (p.His294Gln) rs367968666 0.00016
NM_000170.3(GLDC):c.1691G>T (p.Ser564Ile) rs121964974 0.00016
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys) rs104894423 0.00016
NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys) rs193922377 0.00016
NM_000283.4(PDE6B):c.2548A>G (p.Thr850Ala) rs141647790 0.00016
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser) rs72658865 0.00016
NM_000540.3(RYR1):c.4847C>T (p.Thr1616Met) rs776194441 0.00016
NM_000540.3(RYR1):c.8505A>T (p.Glu2835Asp) rs144777676 0.00016
NM_000540.3(RYR1):c.9713A>G (p.Glu3238Gly) rs200950673 0.00016
NM_000540.3(RYR1):c.9796A>C (p.Met3266Leu) rs201588259 0.00016
NM_001101426.4(CRPPA):c.693C>A (p.Asp231Glu) rs770257307 0.00016
NM_001111.5(ADAR):c.1625A>G (p.Asn542Ser) rs200242235 0.00016
NM_001130987.2(DYSF):c.225G>A (p.Thr75=) rs200957354 0.00016
NM_001142864.4(PIEZO1):c.1447G>C (p.Val483Leu) rs747301309 0.00016
NM_001142864.4(PIEZO1):c.1828C>T (p.Leu610Phe) rs747972920 0.00016
NM_001142864.4(PIEZO1):c.2744A>G (p.Asn915Ser) rs543115615 0.00016
NM_001142864.4(PIEZO1):c.4662C>T (p.Leu1554=) rs751557941 0.00016
NM_001142864.4(PIEZO1):c.7204G>C (p.Glu2402Gln) rs773860217 0.00016
NM_001164508.2(NEB):c.21797C>T (p.Pro7266Leu) rs367626762 0.00016
NM_001164508.2(NEB):c.24041T>C (p.Val8014Ala) rs200269437 0.00016
NM_001164508.2(NEB):c.3964G>T (p.Ala1322Ser) rs376611641 0.00016
NM_001164508.2(NEB):c.7342C>T (p.Arg2448Cys) rs576076237 0.00016
NM_001206744.2(TPO):c.2647C>T (p.Pro883Ser) rs190968346 0.00016
NM_001267550.2(TTN):c.100049C>T (p.Thr33350Ile) rs370300135 0.00016
NM_001267550.2(TTN):c.104590C>A (p.Pro34864Thr) rs756640084 0.00016
NM_001267550.2(TTN):c.30513A>T (p.Glu10171Asp) rs577066020 0.00016
NM_001267550.2(TTN):c.40973A>G (p.Lys13658Arg) rs184713215 0.00016
NM_001267550.2(TTN):c.51683C>T (p.Ala17228Val) rs370644359 0.00016
NM_001267550.2(TTN):c.51782G>A (p.Arg17261Gln) rs201825412 0.00016
NM_001267550.2(TTN):c.53881+5G>A rs753527304 0.00016
NM_001267550.2(TTN):c.54104C>T (p.Ala18035Val) rs182445366 0.00016
NM_001267550.2(TTN):c.64898G>A (p.Arg21633Gln) rs141965360 0.00016
NM_001267550.2(TTN):c.66491A>T (p.Lys22164Ile) rs371081043 0.00016
NM_001267550.2(TTN):c.7316G>A (p.Arg2439His) rs142129359 0.00016
NM_001267550.2(TTN):c.75490G>A (p.Asp25164Asn) rs192468365 0.00016
NM_001267550.2(TTN):c.79883G>C (p.Arg26628Pro) rs201091376 0.00016
NM_001267550.2(TTN):c.80417A>G (p.His26806Arg) rs181766682 0.00016
NM_001267550.2(TTN):c.87367A>C (p.Ser29123Arg) rs375198596 0.00016
NM_001267550.2(TTN):c.87878G>A (p.Arg29293His) rs202001776 0.00016
NM_001267550.2(TTN):c.92684G>A (p.Arg30895Gln) rs200141081 0.00016
NM_001267550.2(TTN):c.92782G>C (p.Asp30928His) rs397517756 0.00016
NM_001267550.2(TTN):c.96138A>T (p.Ile32046=) rs368154623 0.00016
NM_001267550.2(TTN):c.97055G>A (p.Arg32352His) rs575939045 0.00016
NM_001267550.2(TTN):c.9857A>G (p.Lys3286Arg) rs200052398 0.00016
NM_001267550.2(TTN):c.99969C>T (p.Ile33323=) rs375403439 0.00016
NM_001286577.2(C2CD3):c.3911-2A>T rs149366137 0.00016
NM_001365088.1(SLC12A6):c.1139G>A (p.Arg380His) rs375887656 0.00016
NM_001378609.3(OTOGL):c.1078C>T (p.Arg360Ter) rs368844341 0.00016
NM_001379610.1(SPINK1):c.194+2T>C rs148954387 0.00016
NM_001458.5(FLNC):c.1108A>G (p.Met370Val) rs370406338 0.00016
NM_001458.5(FLNC):c.2163C>A (p.Asn721Lys) rs370539335 0.00016
NM_001458.5(FLNC):c.2686G>A (p.Gly896Arg) rs200215903 0.00016
NM_001458.5(FLNC):c.2747G>A (p.Arg916Gln) rs143720860 0.00016
NM_001458.5(FLNC):c.4763C>G (p.Ala1588Gly) rs148545460 0.00016
NM_001849.4(COL6A2):c.1129C>T (p.Arg377Cys) rs144801620 0.00016
NM_001849.4(COL6A2):c.2656G>A (p.Gly886Ser) rs571488000 0.00016
NM_001927.4(DES):c.643G>A (p.Val215Met) rs144908941 0.00016
NM_002185.5(IL7R):c.314G>A (p.Ser105Asn) rs150051812 0.00016
NM_003052.5(SLC34A1):c.1348G>A (p.Gly450Ser) rs34044544 0.00016
NM_003060.4(SLC22A5):c.115T>G (p.Ser39Ala) rs544332057 0.00016
NM_003126.4(SPTA1):c.2506A>G (p.Arg836Gly) rs201844450 0.00016
NM_003126.4(SPTA1):c.3841C>T (p.Arg1281Cys) rs199685020 0.00016
NM_003126.4(SPTA1):c.452G>A (p.Gly151Asp) rs199725919 0.00016
NM_004006.3(DMD):c.2858C>T (p.Thr953Ile) rs142133195 0.00016
NM_004153.4(ORC1):c.314G>A (p.Arg105Gln) rs143141689 0.00016
NM_004281.4(BAG3):c.1588G>A (p.Val530Met) rs144678100 0.00016
NM_004304.5(ALK):c.2149G>A (p.Glu717Lys) rs147858673 0.00016
NM_004370.6(COL12A1):c.3652G>A (p.Val1218Met) rs201749138 0.00016
NM_004562.3(PRKN):c.719C>T (p.Thr240Met) rs137853054 0.00016
NM_005257.6(GATA6):c.271C>T (p.Pro91Ser) rs766886560 0.00016
NM_005529.7(HSPG2):c.6346G>A (p.Val2116Met) rs146462440 0.00016
NM_005529.7(HSPG2):c.7438C>T (p.Arg2480Trp) rs143437991 0.00016
NM_005609.4(PYGM):c.2290A>G (p.Asn764Asp) rs190548494 0.00016
NM_005996.4(TBX3):c.1080G>C (p.Glu360Asp) rs376189812 0.00016
NM_006182.4(DDR2):c.1153A>T (p.Thr385Ser) rs749852883 0.00016
NM_006772.3(SYNGAP1):c.1446C>A (p.Leu482=) rs370597423 0.00016
NM_006946.4(SPTBN2):c.5495T>G (p.Leu1832Arg) rs202081167 0.00016
NM_006946.4(SPTBN2):c.6385C>T (p.Arg2129Trp) rs556784868 0.00016
NM_007118.4(TRIO):c.7922A>C (p.Lys2641Thr) rs200539540 0.00016
NM_012452.3(TNFRSF13B):c.311G>A (p.Cys104Tyr) rs72553879 0.00016
NM_014321.4(ORC6):c.449+5G>A rs572314014 0.00016
NM_014384.3(ACAD8):c.1129G>A (p.Gly377Ser) rs121908419 0.00016
NM_014625.4(NPHS2):c.790G>C (p.Glu264Gln) rs369697947 0.00016
NM_020549.5(CHAT):c.2212A>G (p.Lys738Glu) rs142285373 0.00016
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00016
NM_032856.5(WDR73):c.354T>G (p.Asp118Glu) rs201827208 0.00016
NM_057176.3(BSND):c.139G>A (p.Gly47Arg) rs74315289 0.00016
NM_133642.5(LARGE1):c.1892C>T (p.Thr631Met) rs368043810 0.00016
NM_147191.1(MMP21):c.1372C>T (p.Arg458Ter) rs145119918 0.00016
NM_152393.4(KLHL40):c.1450G>A (p.Asp484Asn) rs372246096 0.00016
NM_170707.4(LMNA):c.1657G>A (p.Asp553Asn) rs373671419 0.00016
NM_170707.4(LMNA):c.895A>G (p.Ile299Val) rs150924946 0.00016
NM_177438.3(DICER1):c.3553G>A (p.Ala1185Thr) rs150514959 0.00016
NM_182914.3(SYNE2):c.19034G>A (p.Arg6345Gln) rs141882853 0.00016
NM_182961.4(SYNE1):c.11594C>T (p.Thr3865Met) rs202173395 0.00016
NM_182961.4(SYNE1):c.15863G>C (p.Gly5288Ala) rs201313856 0.00016
NM_201384.3(PLEC):c.4446G>A (p.Ala1482=) rs782202249 0.00016
NM_201384.3(PLEC):c.5029G>A (p.Gly1677Ser) rs373952777 0.00016
NM_201384.3(PLEC):c.5582C>T (p.Ala1861Val) rs200949161 0.00016
NM_201384.3(PLEC):c.7703G>A (p.Arg2568His) rs552039931 0.00016
NM_000037.4(ANK1):c.5614C>T (p.Arg1872Trp) rs145235970 0.00015
NM_000069.3(CACNA1S):c.2099C>T (p.Thr700Met) rs147112322 0.00015
NM_000070.3(CAPN3):c.338T>C (p.Ile113Thr) rs747026964 0.00015
NM_000135.4(FANCA):c.308C>T (p.Ser103Leu) rs147176389 0.00015
NM_000152.5(GAA):c.2052G>A (p.Pro684=) rs546463058 0.00015
NM_000275.3(OCA2):c.2020C>G (p.Leu674Val) rs371412500 0.00015
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00015
NM_000287.4(PEX6):c.543G>A (p.Val181=) rs368560418 0.00015
NM_000289.6(PFKM):c.2312C>T (p.Thr771Ile) rs201190252 0.00015
NM_000298.6(PKLR):c.805G>T (p.Val269Phe) rs200695047 0.00015
NM_000337.6(SGCD):c.92G>A (p.Arg31Gln) rs200476861 0.00015
NM_000478.6(ALPL):c.526G>A (p.Ala176Thr) rs121918019 0.00015
NM_000540.3(RYR1):c.2531G>A (p.Cys844Tyr) rs146754847 0.00015
NM_000540.3(RYR1):c.7902C>A (p.Asn2634Lys) rs148041292 0.00015
NM_000543.5(SMPD1):c.103C>G (p.Leu35Val) rs201367689 0.00015
NM_000719.7(CACNA1C):c.6040G>A (p.Val2014Ile) rs199473660 0.00015
NM_001042492.3(NF1):c.107C>G (p.Thr36Ser) rs199966218 0.00015
NM_001130987.2(DYSF):c.1140C>T (p.Asp380=) rs373744398 0.00015
NM_001142864.4(PIEZO1):c.2546G>A (p.Arg849His) rs774090082 0.00015
NM_001142864.4(PIEZO1):c.3626G>A (p.Arg1209Gln) rs547120028 0.00015
NM_001164508.2(NEB):c.3444G>A (p.Ala1148=) rs375569766 0.00015
NM_001243177.4(ALDOA):c.922G>A (p.Val308Ile) rs142759891 0.00015
NM_001267550.2(TTN):c.104364C>T (p.Ser34788=) rs181679744 0.00015
NM_001267550.2(TTN):c.104414G>A (p.Arg34805Gln) rs115150240 0.00015
NM_001267550.2(TTN):c.104936G>C (p.Gly34979Ala) rs376634193 0.00015
NM_001267550.2(TTN):c.32731G>A (p.Glu10911Lys) rs199620003 0.00015
NM_001267550.2(TTN):c.4291C>T (p.Arg1431Trp) rs139636676 0.00015
NM_001267550.2(TTN):c.45014T>C (p.Leu15005Pro) rs369992659 0.00015
NM_001267550.2(TTN):c.45979C>T (p.Arg15327Cys) rs367774903 0.00015
NM_001267550.2(TTN):c.49871G>A (p.Arg16624Gln) rs367566671 0.00015
NM_001267550.2(TTN):c.54490T>C (p.Tyr18164His) rs370135374 0.00015
NM_001267550.2(TTN):c.55673G>A (p.Arg18558His) rs115867512 0.00015
NM_001267550.2(TTN):c.57656A>T (p.Tyr19219Phe) rs201541213 0.00015
NM_001267550.2(TTN):c.63626G>A (p.Arg21209Gln) rs148684589 0.00015
NM_001267550.2(TTN):c.68513C>T (p.Ala22838Val) rs372075439 0.00015
NM_001267550.2(TTN):c.79546G>A (p.Gly26516Ser) rs776256093 0.00015
NM_001267550.2(TTN):c.85091G>A (p.Arg28364Gln) rs376283153 0.00015
NM_001267550.2(TTN):c.88645_88647del (p.Glu29549del) rs778364983 0.00015
NM_001267550.2(TTN):c.93570T>A (p.Asn31190Lys) rs746309005 0.00015
NM_001283009.2(RTEL1):c.860C>T (p.Thr287Ile) rs561054389 0.00015
NM_001291303.3(FAT4):c.4549A>C (p.Ile1517Leu) rs374899663 0.00015
NM_001291303.3(FAT4):c.6094A>G (p.Thr2032Ala) rs147314754 0.00015
NM_001330360.2(POLA1):c.2348C>T (p.Ser783Phe) rs367639262 0.00015
NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys) rs80338856 0.00015
NM_001368067.1(LDB3):c.511G>A (p.Ala171Thr) rs373632943 0.00015
NM_001378778.1(MPDZ):c.4469del (p.Gln1490fs) rs781251438 0.00015
NM_001384732.1(CPLANE1):c.1222C>T (p.Arg408Trp) rs189796608 0.00015
NM_001457.4(FLNB):c.3631G>A (p.Glu1211Lys) rs147162135 0.00015
NM_001458.5(FLNC):c.3304C>T (p.Pro1102Ser) rs199707920 0.00015
NM_001848.3(COL6A1):c.1712A>C (p.Lys571Thr) rs751040647 0.00015
NM_001943.5(DSG2):c.2305G>A (p.Glu769Lys) rs371146201 0.00015
NM_002016.2(FLG):c.7031C>G (p.Ser2344Ter) rs372754256 0.00015
NM_002485.5(NBN):c.1036G>A (p.Val346Met) rs200297914 0.00015
NM_003126.4(SPTA1):c.1702C>T (p.Arg568Cys) rs201395636 0.00015
NM_003850.3(SUCLA2):c.985A>G (p.Met329Val) rs200167311 0.00015
NM_003919.3(SGCE):c.391A>G (p.Ile131Val) rs370609227 0.00015
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) rs111033294 0.00015
NM_004369.4(COL6A3):c.1975C>T (p.Arg659Cys) rs146291186 0.00015
NM_004667.6(HERC2):c.8740C>T (p.Arg2914Cys) rs150853451 0.00015
NM_005198.5(CHKB):c.501T>G (p.Ile167Met) rs199704510 0.00015
NM_005619.5(RTN2):c.1630G>A (p.Ala544Thr) rs201387324 0.00015
NM_006063.3(KLHL41):c.1712A>G (p.Tyr571Cys) rs181228139 0.00015
NM_006939.4(SOS2):c.599A>G (p.Tyr200Cys) rs148595463 0.00015
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342 0.00015
NM_014049.5(ACAD9):c.1552C>T (p.Arg518Cys) rs150283105 0.00015
NM_017534.6(MYH2):c.1300G>A (p.Val434Ile) rs143204063 0.00015
NM_018834.6(MATR3):c.2504A>G (p.Asn835Ser) rs201165929 0.00015
NM_020320.5(RARS2):c.472_474del (p.Lys158del) rs757743894 0.00015
NM_022464.5(SIL1):c.1099G>A (p.Val367Ile) rs372908895 0.00015
NM_032119.4(ADGRV1):c.6269G>A (p.Arg2090His) rs370252248 0.00015
NM_152722.5(HEPACAM):c.1166G>A (p.Arg389His) rs372070386 0.00015
NM_176787.5(PIGN):c.2679C>G (p.Ser893Arg) rs199573774 0.00015
NM_182914.3(SYNE2):c.16856A>G (p.Asp5619Gly) rs139187222 0.00015
NM_182914.3(SYNE2):c.17539G>A (p.Glu5847Lys) rs201427580 0.00015
NM_182914.3(SYNE2):c.7762G>A (p.Val2588Met) rs373690979 0.00015
NM_182914.3(SYNE2):c.8005A>G (p.Thr2669Ala) rs374946613 0.00015
NM_182914.3(SYNE2):c.8911C>G (p.Gln2971Glu) rs200909650 0.00015
NM_182961.4(SYNE1):c.4723C>T (p.Leu1575Phe) rs200424447 0.00015
NM_201384.3(PLEC):c.10417G>A (p.Gly3473Ser) rs201765507 0.00015
NM_201384.3(PLEC):c.10472G>A (p.Arg3491His) rs374469690 0.00015
NM_201384.3(PLEC):c.11597G>A (p.Arg3866His) rs377150241 0.00015
NM_201384.3(PLEC):c.11657G>A (p.Arg3886His) rs368152307 0.00015
NM_201384.3(PLEC):c.7369C>T (p.Arg2457Cys) rs200652637 0.00015
NM_213599.3(ANO5):c.1640G>A (p.Arg547Gln) rs139618850 0.00015
NM_213599.3(ANO5):c.1664G>T (p.Ser555Ile) rs375014127 0.00015
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln) rs398123084 0.00014
NM_000048.4(ASL):c.857A>G (p.Gln286Arg) rs28941472 0.00014
NM_000053.4(ATP7B):c.3217G>A (p.Val1073Met) rs376112375 0.00014
NM_000069.3(CACNA1S):c.4340G>A (p.Arg1447Gln) rs377474103 0.00014
NM_000081.4(LYST):c.6388G>A (p.Asp2130Asn) rs148371004 0.00014
NM_000083.3(CLCN1):c.1392C>T (p.Phe464=) rs201919331 0.00014
NM_000083.3(CLCN1):c.313C>T (p.Arg105Cys) rs201509501 0.00014
NM_000098.3(CPT2):c.921_923del (p.Met307_Ser308delinsIle) rs751090469 0.00014
NM_000135.4(FANCA):c.2949T>G (p.Ile983Met) rs188695241 0.00014
NM_000153.4(GALC):c.266C>T (p.Pro89Leu) rs201422931 0.00014
NM_000156.6(GAMT):c.22C>A (p.Pro8Thr) rs776498025 0.00014
NM_000157.4(GBA1):c.222_224del (p.Thr75del) rs761621516 0.00014
NM_000159.4(GCDH):c.1198G>A (p.Val400Met) rs121434372 0.00014
NM_000268.4(NF2):c.107A>G (p.Asn36Ser) rs372279458 0.00014
NM_000281.4(PCBD1):c.292C>T (p.Gln98Ter) rs121913015 0.00014
NM_000303.3(PMM2):c.634A>G (p.Met212Val) rs3743808 0.00014
NM_000402.4(G6PD):c.556G>A (p.Glu186Lys) rs137852313 0.00014
NM_000426.4(LAMA2):c.5291A>G (p.Glu1764Gly) rs141950826 0.00014
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser) rs121907954 0.00014
NM_000528.4(MAN2B1):c.65G>A (p.Trp22Ter) rs766383135 0.00014
NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp) rs147320363 0.00014
NM_000540.3(RYR1):c.641C>T (p.Thr214Met) rs727504129 0.00014
NM_000548.5(TSC2):c.3379C>T (p.Arg1127Trp) rs373939435 0.00014
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu) rs140012781 0.00014
NM_001142864.4(PIEZO1):c.950G>C (p.Gly317Ala) rs868678918 0.00014
NM_001164508.2(NEB):c.1187C>T (p.Ala396Val) rs369957704 0.00014
NM_001164508.2(NEB):c.11971G>A (p.Ala3991Thr) rs368328716 0.00014
NM_001164508.2(NEB):c.355A>G (p.Thr119Ala) rs182207224 0.00014
NM_001206744.2(TPO):c.1357T>G (p.Tyr453Asp) rs121908083 0.00014
NM_001267550.2(TTN):c.103434C>A (p.Asp34478Glu) rs376371272 0.00014
NM_001267550.2(TTN):c.104605G>A (p.Glu34869Lys) rs563430855 0.00014
NM_001267550.2(TTN):c.14759C>T (p.Thr4920Met) rs371455094 0.00014
NM_001267550.2(TTN):c.14869A>C (p.Thr4957Pro) rs780405420 0.00014
NM_001267550.2(TTN):c.20108G>A (p.Arg6703Gln) rs546821182 0.00014
NM_001267550.2(TTN):c.21197A>G (p.Lys7066Arg) rs553548392 0.00014
NM_001267550.2(TTN):c.24622G>A (p.Glu8208Lys) rs190192954 0.00014
NM_001267550.2(TTN):c.26329G>A (p.Val8777Ile) rs376823283 0.00014
NM_001267550.2(TTN):c.28678G>A (p.Asp9560Asn) rs771843862 0.00014
NM_001267550.2(TTN):c.32660T>C (p.Ile10887Thr) rs371538856 0.00014
NM_001267550.2(TTN):c.32971G>A (p.Glu10991Lys) rs201081803 0.00014
NM_001267550.2(TTN):c.33838C>T (p.Pro11280Ser) rs374449452 0.00014
NM_001267550.2(TTN):c.3835A>T (p.Met1279Leu) rs374497665 0.00014
NM_001267550.2(TTN):c.47936C>T (p.Pro15979Leu) rs184815126 0.00014
NM_001267550.2(TTN):c.50390G>A (p.Arg16797His) rs200835354 0.00014
NM_001267550.2(TTN):c.56255C>T (p.Pro18752Leu) rs200132226 0.00014
NM_001267550.2(TTN):c.56942C>T (p.Ala18981Val) rs397517627 0.00014
NM_001267550.2(TTN):c.58190C>T (p.Thr19397Met) rs373527448 0.00014
NM_001267550.2(TTN):c.62425G>A (p.Ala20809Thr) rs532844402 0.00014
NM_001267550.2(TTN):c.66590G>A (p.Arg22197Gln) rs374656017 0.00014
NM_001267550.2(TTN):c.72182T>C (p.Met24061Thr) rs200471370 0.00014
NM_001267550.2(TTN):c.73783G>A (p.Ala24595Thr) rs543275318 0.00014
NM_001267550.2(TTN):c.84977G>A (p.Arg28326Gln) rs200843338 0.00014
NM_001267550.2(TTN):c.85745T>A (p.Ile28582Lys) rs201688358 0.00014
NM_001267550.2(TTN):c.86025G>A (p.Pro28675=) rs369528150 0.00014
NM_001267550.2(TTN):c.88685G>A (p.Gly29562Asp) rs72648235 0.00014
NM_001267550.2(TTN):c.90793C>T (p.Arg30265Trp) rs200022152 0.00014
NM_001267550.2(TTN):c.96173G>A (p.Arg32058Gln) rs374063064 0.00014
NM_001298.3(CNGA3):c.101+1G>A rs147118493 0.00014
NM_001370466.1(NOD2):c.794C>T (p.Ala265Val) rs149338478 0.00014
NM_001370595.2(COA8):c.85G>A (p.Glu29Lys) rs535382401 0.00014
NM_001457.4(FLNB):c.7036C>T (p.Arg2346Cys) rs149638325 0.00014
NM_001458.5(FLNC):c.3242C>T (p.Ala1081Val) rs200169573 0.00014
NM_001999.4(FBN2):c.2801G>A (p.Arg934Gln) rs376194507 0.00014
NM_002485.5(NBN):c.456G>A (p.Met152Ile) rs201816949 0.00014
NM_003041.4(SLC5A2):c.885+5G>A rs200228142 0.00014
NM_003126.4(SPTA1):c.4408G>A (p.Glu1470Lys) rs376552785 0.00014
NM_003126.4(SPTA1):c.4850G>A (p.Arg1617Gln) rs564887323 0.00014
NM_003126.4(SPTA1):c.6026G>A (p.Arg2009His) rs188580757 0.00014
NM_003126.4(SPTA1):c.7189G>A (p.Asp2397Asn) rs576803383 0.00014
NM_004006.3(DMD):c.3805C>T (p.His1269Tyr) rs151150099 0.00014
NM_004006.3(DMD):c.3816G>C (p.Leu1272Phe) rs760733415 0.00014
NM_004006.3(DMD):c.8212T>C (p.Trp2738Arg) rs372600090 0.00014
NM_004281.4(BAG3):c.1634C>G (p.Pro545Arg) rs759348679 0.00014
NM_004380.3(CREBBP):c.3841G>A (p.Val1281Ile) rs201874248 0.00014
NM_004667.6(HERC2):c.8329A>G (p.Met2777Val) rs184647895 0.00014
NM_005529.7(HSPG2):c.10025G>A (p.Arg3342Lys) rs570850437 0.00014
NM_012082.4(ZFPM2):c.121C>G (p.Pro41Ala) rs199535268 0.00014
NM_014874.4(MFN2):c.842G>C (p.Cys281Ser) rs147136530 0.00014
NM_017777.4(MKS1):c.417G>A (p.Glu139=) rs386834048 0.00014
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile) rs34647222 0.00014
NM_020975.6(RET):c.1699G>A (p.Asp567Asn) rs147219360 0.00014
NM_025074.7(FRAS1):c.6286C>T (p.Arg2096Cys) rs193229946 0.00014
NM_032119.4(ADGRV1):c.2456G>A (p.Ser819Asn) rs182395524 0.00014
NM_153676.4(USH1C):c.790G>A (p.Val264Ile) rs79875849 0.00014
NM_182914.3(SYNE2):c.353A>T (p.Asp118Val) rs199860789 0.00014
NM_182914.3(SYNE2):c.7310A>G (p.Asn2437Ser) rs373880647 0.00014
NM_182961.4(SYNE1):c.16573-3C>T rs376927135 0.00014
NM_201384.3(PLEC):c.11476C>T (p.Arg3826Cys) rs781836500 0.00014
NM_201384.3(PLEC):c.12671C>G (p.Ala4224Gly) rs368212208 0.00014
NM_201384.3(PLEC):c.2477A>G (p.Asp826Gly) rs369344419 0.00014
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp) rs201725369 0.00014
NM_213599.3(ANO5):c.2498T>A (p.Met833Lys) rs142073798 0.00014
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg) rs121434274 0.00013
NM_000023.4(SGCA):c.292C>T (p.Arg98Cys) rs138945081 0.00013
NM_000023.4(SGCA):c.328C>T (p.Arg110Trp) rs200137051 0.00013
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys) rs137852623 0.00013
NM_000032.5(ALAS2):c.278A>G (p.Gln93Arg) rs139496244 0.00013
NM_000051.4(ATM):c.8156G>A (p.Arg2719His) rs55982963 0.00013
NM_000053.4(ATP7B):c.3243+5G>A rs373193482 0.00013
NM_000059.4(BRCA2):c.5414A>G (p.Asn1805Ser) rs80358765 0.00013
NM_000069.3(CACNA1S):c.93G>C (p.Leu31Phe) rs556751671 0.00013
NM_000070.3(CAPN3):c.2071G>A (p.Gly691Arg) rs140425651 0.00013
NM_000071.3(CBS):c.146C>T (p.Pro49Leu) rs148865119 0.00013
NM_000083.3(CLCN1):c.2230C>A (p.Pro744Thr) rs149316679 0.00013
NM_000112.4(SLC26A2):c.173G>A (p.Arg58His) rs199893058 0.00013
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924 0.00013
NM_000122.2(ERCC3):c.1757del (p.Gln586fs) rs753182861 0.00013
NM_000135.4(FANCA):c.4015C>T (p.Leu1339Phe) rs149775657 0.00013
NM_000169.3(GLA):c.1088G>A (p.Arg363His) rs111422676 0.00013
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr) rs45478699 0.00013
NM_000304.4(PMP22):c.152A>G (p.His51Arg) rs368908933 0.00013
NM_000329.3(RPE65):c.11+5G>A rs61751276 0.00013
NM_000337.6(SGCD):c.451T>G (p.Ser151Ala) rs121909298 0.00013
NM_000342.3(SLC4A1):c.268G>A (p.Glu90Lys) rs28929480 0.00013
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser) rs375315619 0.00013
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp) rs121908752 0.00013
NM_000522.5(HOXA13):c.196G>T (p.Ala66Ser) rs773516831 0.00013
NM_000540.3(RYR1):c.14270G>A (p.Arg4757His) rs768360593 0.00013
NM_000540.3(RYR1):c.6251G>A (p.Arg2084Gln) rs143681974 0.00013
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) rs200563280 0.00013
NM_000540.3(RYR1):c.7672G>A (p.Val2558Met) rs771523641 0.00013
NM_000540.3(RYR1):c.9148G>A (p.Val3050Ile) rs200797340 0.00013
NM_000540.3(RYR1):c.9152G>A (p.Arg3051His) rs147303895 0.00013
NM_000540.3(RYR1):c.9261C>T (p.Ile3087=) rs56338790 0.00013
NM_000553.6(WRN):c.2735T>G (p.Ile912Ser) rs11574323 0.00013
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102 0.00013
NM_001079802.2(FKTN):c.1337A>G (p.Asn446Ser) rs374912618 0.00013
NM_001127644.2(GABRA1):c.85C>T (p.Pro29Ser) rs143815396 0.00013
NM_001142864.4(PIEZO1):c.2759G>A (p.Arg920Gln) rs752372837 0.00013
NM_001142864.4(PIEZO1):c.3818A>G (p.Asp1273Gly) rs570130189 0.00013
NM_001164508.2(NEB):c.1550A>G (p.Asn517Ser) rs199710125 0.00013
NM_001164508.2(NEB):c.9195C>T (p.His3065=) rs374734631 0.00013
NM_001242896.3(DEPDC5):c.2591C>T (p.Thr864Met) rs564667614 0.00013
NM_001267550.2(TTN):c.107089G>C (p.Glu35697Gln) rs199531140 0.00013
NM_001267550.2(TTN):c.14639C>T (p.Ala4880Val) rs373683445 0.00013
NM_001267550.2(TTN):c.16091G>A (p.Arg5364His) rs200941841 0.00013
NM_001267550.2(TTN):c.1742C>T (p.Pro581Leu) rs199778910 0.00013
NM_001267550.2(TTN):c.20418A>C (p.Lys6806Asn) rs768932465 0.00013
NM_001267550.2(TTN):c.23925C>T (p.Ser7975=) rs374879942 0.00013
NM_001267550.2(TTN):c.25564G>A (p.Asp8522Asn) rs199619070 0.00013
NM_001267550.2(TTN):c.33059A>G (p.Tyr11020Cys) rs72650035 0.00013
NM_001267550.2(TTN):c.35371G>T (p.Val11791Phe) rs200587998 0.00013
NM_001267550.2(TTN):c.3619C>A (p.Pro1207Thr) rs373753003 0.00013
NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln) rs200944827 0.00013
NM_001267550.2(TTN):c.5198C>T (p.Thr1733Met) rs367700246 0.00013
NM_001267550.2(TTN):c.52331G>A (p.Arg17444His) rs376080116 0.00013
NM_001267550.2(TTN):c.54160G>C (p.Val18054Leu) rs200968679 0.00013
NM_001267550.2(TTN):c.54796G>T (p.Ala18266Ser) rs199837769 0.00013
NM_001267550.2(TTN):c.56456A>G (p.Asn18819Ser) rs201337786 0.00013
NM_001267550.2(TTN):c.62534C>G (p.Thr20845Arg) rs727505316 0.00013
NM_001267550.2(TTN):c.62681G>T (p.Cys20894Phe) rs370080086 0.00013
NM_001267550.2(TTN):c.6359G>A (p.Arg2120Gln) rs141142920 0.00013
NM_001267550.2(TTN):c.68640G>A (p.Lys22880=) rs370292933 0.00013
NM_001267550.2(TTN):c.73303C>T (p.Arg24435Cys) rs200028088 0.00013
NM_001267550.2(TTN):c.75527G>A (p.Arg25176His) rs375693396 0.00013
NM_001267550.2(TTN):c.80666A>G (p.Tyr26889Cys) rs571328201 0.00013
NM_001267550.2(TTN):c.82981C>T (p.Pro27661Ser) rs201422612 0.00013
NM_001267550.2(TTN):c.8434G>C (p.Val2812Leu) rs146636599 0.00013
NM_001267550.2(TTN):c.86935G>A (p.Val28979Ile) rs201687390 0.00013
NM_001267550.2(TTN):c.91426G>A (p.Val30476Ile) rs377531244 0.00013
NM_001267550.2(TTN):c.92333C>G (p.Thr30778Arg) rs201019681 0.00013
NM_001267550.2(TTN):c.95082C>T (p.Ser31694=) rs776679937 0.00013
NM_001267550.2(TTN):c.96904+4T>C rs373514079 0.00013
NM_001267550.2(TTN):c.98605C>T (p.Arg32869Cys) rs186244950 0.00013
NM_001363118.2(SLC52A2):c.1300C>T (p.His434Tyr) rs566858747 0.00013
NM_001365999.1(SZT2):c.9629G>A (p.Arg3210His) rs371193436 0.00013
NM_001371596.2(MFSD8):c.206C>T (p.Pro69Leu) rs147750747 0.00013
NM_001458.5(FLNC):c.4334A>G (p.Lys1445Arg) rs371591881 0.00013
NM_001739.2(CA5A):c.543C>T (p.Gly181=) rs534860826 0.00013
NM_001848.3(COL6A1):c.2852C>T (p.Thr951Met) rs371111712 0.00013
NM_001851.6(COL9A1):c.876+2T>A rs149830493 0.00013
NM_001854.4(COL11A1):c.2735C>T (p.Pro912Leu) rs192842970 0.00013
NM_002880.4(RAF1):c.1721A>G (p.Tyr574Cys) rs370242565 0.00013
NM_004006.3(DMD):c.8255A>G (p.Tyr2752Cys) rs373832446 0.00013
NM_004260.4(RECQL4):c.1345A>C (p.Thr449Pro) rs535692036 0.00013
NM_004415.4(DSP):c.2774G>A (p.Arg925Gln) rs139799237 0.00013
NM_005529.7(HSPG2):c.12884G>A (p.Arg4295Gln) rs537908254 0.00013
NM_005529.7(HSPG2):c.3857A>G (p.Gln1286Arg) rs199788526 0.00013
NM_005529.7(HSPG2):c.5891G>A (p.Arg1964Lys) rs373448635 0.00013
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) rs71530923 0.00013
NM_006516.4(SLC2A1):c.764A>C (p.Lys255Thr) rs5811 0.00013
NM_006790.3(MYOT):c.1286C>G (p.Ala429Gly) rs144731446 0.00013
NM_006790.3(MYOT):c.1453C>T (p.Arg485Cys) rs140755418 0.00013
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys) rs200094982 0.00013
NM_020041.3(SLC2A9):c.646G>A (p.Gly216Arg) rs561633150 0.00013
NM_022437.3(ABCG8):c.1234C>T (p.Arg412Ter) rs137852991 0.00013
NM_024757.5(EHMT1):c.1140G>C (p.Glu380Asp) rs368995503 0.00013
NM_024757.5(EHMT1):c.2039C>T (p.Ser680Leu) rs147523309 0.00013
NM_030632.3(ASXL3):c.4845G>T (p.Arg1615Ser) rs199888171 0.00013
NM_032790.4(ORAI1):c.14C>T (p.Pro5Leu) rs549883296 0.00013
NM_033305.3(VPS13A):c.5047A>G (p.Thr1683Ala) rs371138709 0.00013
NM_058246.4(DNAJB6):c.410C>T (p.Thr137Met) rs149027078 0.00013
NM_138477.2(CDAN1):c.2015C>T (p.Pro672Leu) rs120074167 0.00013
NM_182961.4(SYNE1):c.6908C>T (p.Thr2303Met) rs190867604 0.00013
NM_182961.4(SYNE1):c.8839C>G (p.Leu2947Val) rs756300560 0.00013
NM_182961.4(SYNE1):c.9349G>A (p.Gly3117Arg) rs566953005 0.00013
NM_198576.4(AGRN):c.1929C>T (p.Cys643=) rs371304780 0.00013
NM_201384.3(PLEC):c.11503G>A (p.Asp3835Asn) rs368824832 0.00013
NM_201384.3(PLEC):c.6096G>C (p.Ser2032=) rs564245730 0.00013
NM_201384.3(PLEC):c.7193G>A (p.Arg2398His) rs368343687 0.00013
NM_201384.3(PLEC):c.9294C>T (p.Ala3098=) rs376753842 0.00013
NM_201384.3(PLEC):c.9841G>A (p.Val3281Met) rs202005454 0.00013
NM_206933.4(USH2A):c.5698T>G (p.Cys1900Gly) rs201026468 0.00013
NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys) rs199840367 0.00013
NM_000019.4(ACAT1):c.772C>T (p.Arg258Cys) rs753816946 0.00012
NM_000053.4(ATP7B):c.347T>C (p.Ile116Thr) rs199773340 0.00012
NM_000081.4(LYST):c.1664A>C (p.His555Pro) rs201106245 0.00012
NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter) rs104893919 0.00012
NM_000310.4(PPT1):c.329A>G (p.Asn110Ser) rs142894102 0.00012
NM_000444.6(PHEX):c.185C>T (p.Ala62Val) rs145393882 0.00012
NM_000642.3(AGL):c.256C>T (p.Gln86Ter) rs193186112 0.00012
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn) rs137852870 0.00012
NM_000787.4(DBH):c.1033G>A (p.Asp345Asn) rs267606761 0.00012
NM_001101426.4(CRPPA):c.53dup (p.Ser19Glufs) rs886041302 0.00012
NM_001128178.3(NPHP1):c.859G>A (p.Gly287Arg) rs121907899 0.00012
NM_001134363.3(RBM20):c.1958C>T (p.Thr653Ile) rs727505310 0.00012
NM_001142864.4(PIEZO1):c.7099G>A (p.Glu2367Lys) rs552562531 0.00012
NM_001164508.2(NEB):c.10609G>A (p.Ala3537Thr) rs556492694 0.00012
NM_001164508.2(NEB):c.10735C>G (p.Leu3579Val) rs149384863 0.00012
NM_001164508.2(NEB):c.15715C>T (p.Arg5239Cys) rs1346076883 0.00012
NM_001164508.2(NEB):c.18809G>A (p.Arg6270Gln) rs372804439 0.00012
NM_001164508.2(NEB):c.6175G>A (p.Ala2059Thr) rs369215974 0.00012
NM_001256071.3(RNF213):c.11096T>C (p.Met3699Thr) rs201141064 0.00012
NM_001267550.2(TTN):c.102156G>T (p.Arg34052=) rs376894729 0.00012
NM_001267550.2(TTN):c.1066G>C (p.Glu356Gln) rs144531477 0.00012
NM_001267550.2(TTN):c.107915G>T (p.Ser35972Ile) rs397517478 0.00012
NM_001267550.2(TTN):c.14813T>C (p.Phe4938Ser) rs560537668 0.00012
NM_001267550.2(TTN):c.17818T>C (p.Cys5940Arg) rs374882815 0.00012
NM_001267550.2(TTN):c.204C>T (p.Pro68=) rs201089861 0.00012
NM_001267550.2(TTN):c.23926G>A (p.Val7976Ile) rs200395305 0.00012
NM_001267550.2(TTN):c.25126C>T (p.Pro8376Ser) rs375209098 0.00012
NM_001267550.2(TTN):c.2731G>A (p.Val911Ile) rs141961878 0.00012
NM_001267550.2(TTN):c.28733C>T (p.Thr9578Met) rs184923756 0.00012
NM_001267550.2(TTN):c.30811A>G (p.Ile10271Val) rs182720979 0.00012
NM_001267550.2(TTN):c.33796C>T (p.Pro11266Ser) rs201120871 0.00012
NM_001267550.2(TTN):c.43244G>A (p.Ser14415Asn) rs370342831 0.00012
NM_001267550.2(TTN):c.48683G>A (p.Arg16228His) rs368806005 0.00012
NM_001267550.2(TTN):c.55655G>A (p.Arg18552His) rs201774108 0.00012
NM_001267550.2(TTN):c.59236G>A (p.Gly19746Ser) rs372802352 0.00012
NM_001267550.2(TTN):c.59402G>A (p.Gly19801Asp) rs202206216 0.00012
NM_001267550.2(TTN):c.67604G>A (p.Ser22535Asn) rs375676529 0.00012
NM_001267550.2(TTN):c.69338G>A (p.Arg23113Gln) rs370890454 0.00012
NM_001267550.2(TTN):c.71300G>A (p.Arg23767Gln) rs370516890 0.00012
NM_001267550.2(TTN):c.77052C>T (p.Gly25684=) rs372543652 0.00012
NM_001267550.2(TTN):c.81671A>G (p.Asn27224Ser) rs368443217 0.00012
NM_001267550.2(TTN):c.85769G>A (p.Arg28590Gln) rs375667028 0.00012
NM_001267550.2(TTN):c.90691C>T (p.Pro30231Ser) rs373722546 0.00012
NM_001267550.2(TTN):c.99966G>T (p.Trp33322Cys) rs775769503 0.00012
NM_001370259.2(MEN1):c.1618C>T (p.Pro540Ser) rs745404679 0.00012
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser) rs138818907 0.00012
NM_001848.3(COL6A1):c.726C>T (p.Asn242=) rs142102852 0.00012
NM_002775.5(HTRA1):c.176G>C (p.Arg59Pro) rs1246114252 0.00012
NM_003126.4(SPTA1):c.427C>A (p.Leu143Met) rs746078222 0.00012
NM_003466.4(PAX8):c.346G>A (p.Val116Ile) rs764623767 0.00012
NM_004006.3(DMD):c.7820A>T (p.Lys2607Met) rs72466581 0.00012
NM_004092.4(ECHS1):c.518C>T (p.Ala173Val) rs150321966 0.00012
NM_004370.6(COL12A1):c.3767A>G (p.His1256Arg) rs199692759 0.00012
NM_005373.3(MPL):c.391+5G>C rs752453717 0.00012
NM_005529.7(HSPG2):c.5191C>T (p.Leu1731Phe) rs201491948 0.00012
NM_014625.4(NPHS2):c.868G>A (p.Val290Met) rs200482683 0.00012
NM_015559.3(SETBP1):c.685G>A (p.Gly229Arg) rs143196787 0.00012
NM_017534.6(MYH2):c.2266G>A (p.Asp756Asn) rs202198533 0.00012
NM_017872.5(THG1L):c.164T>C (p.Val55Ala) rs201920319 0.00012
NM_018116.4(MSTO1):c.706G>C (p.Asp236His) rs753488873 0.00012
NM_018972.4(GDAP1):c.965C>T (p.Thr322Met) rs199529910 0.00012
NM_021074.5(NDUFV2):c.62_63del (p.His21fs) rs754873418 0.00012
NM_032237.5(POMK):c.760G>A (p.Val254Met) rs34715198 0.00012
NM_032578.4(MYPN):c.3934C>T (p.Arg1312Trp) rs142354704 0.00012
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) rs60890628 0.00012
NM_182914.3(SYNE2):c.18595C>G (p.Gln6199Glu) rs375497206 0.00012
NM_182961.4(SYNE1):c.13849A>C (p.Asn4617His) rs147667464 0.00012
NM_183357.3(ADCY5):c.400G>A (p.Gly134Ser) rs988224463 0.00012
NM_198576.4(AGRN):c.2563G>A (p.Val855Met) rs200684031 0.00012
NM_198586.3(NHLRC1):c.478T>C (p.Cys160Arg) rs200595273 0.00012
NM_201384.3(PLEC):c.10130G>A (p.Arg3377Gln) rs375724891 0.00012
NM_201384.3(PLEC):c.3287G>A (p.Arg1096His) rs375617818 0.00012
NM_201384.3(PLEC):c.3368C>T (p.Pro1123Leu) rs376494828 0.00012
NM_201525.4(ADGRG1):c.487A>C (p.Ser163Arg) rs373741981 0.00012
NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu) rs147394623 0.00012
NM_000033.4(ABCD1):c.1521C>T (p.Gly507=) rs373442692 0.00011
NM_000053.4(ATP7B):c.-676A>G rs1021025464 0.00011
NM_000070.3(CAPN3):c.1437C>T (p.Ser479=) rs147914333 0.00011
NM_000135.4(FANCA):c.3099C>A (p.Asp1033Glu) rs139289675 0.00011
NM_000188.3(HK1):c.1015G>A (p.Val339Met) rs138492927 0.00011
NM_000251.3(MSH2):c.1790A>C (p.Asp597Ala) rs548407418 0.00011
NM_000260.4(MYO7A):c.4130T>C (p.Phe1377Ser) rs777168937 0.00011
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val) rs372030650 0.00011
NM_000334.4(SCN4A):c.2563A>G (p.Met855Val) rs372019457 0.00011
NM_000365.6(TPI1):c.315G>C (p.Glu105Asp) rs121964845 0.00011
NM_000426.4(LAMA2):c.3004G>A (p.Gly1002Ser) rs200953311 0.00011
NM_000426.4(LAMA2):c.4992C>T (p.Thr1664=) rs143078882 0.00011
NM_000426.4(LAMA2):c.8842G>A (p.Gly2948Ser) rs143638361 0.00011
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln) rs111033205 0.00011
NM_000443.4(ABCB4):c.2047G>A (p.Val683Met) rs776616540 0.00011
NM_000478.6(ALPL):c.529G>A (p.Ala177Thr) rs199669988 0.00011
NM_000487.6(ARSA):c.869G>A (p.Arg290His) rs199476355 0.00011
NM_000492.3(CFTR):c.3718-2477C>T rs75039782 0.00011
NM_000492.4(CFTR):c.3415A>G (p.Ile1139Val) rs397508556 0.00011
NM_000494.4(COL17A1):c.415+2T>G rs147734242 0.00011
NM_000518.5(HBB):c.27dup (p.Ser10fs) rs35699606 0.00011
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met) rs193922879 0.00011
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys) rs118192172 0.00011
NM_000540.3(RYR1):c.2366G>A (p.Arg789Gln) rs200069592 0.00011
NM_000540.3(RYR1):c.8073C>T (p.Tyr2691=) rs202160739 0.00011
NM_000548.5(TSC2):c.4352G>A (p.Arg1451His) rs142848358 0.00011
NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter) rs12118058 0.00011
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His) rs587778778 0.00011
NM_000834.5(GRIN2B):c.3076G>A (p.Gly1026Ser) rs201963596 0.00011
NM_000890.5(KCNJ5):c.133G>A (p.Glu45Lys) rs372447456 0.00011
NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro) rs144601090 0.00011
NM_001005361.3(DNM2):c.1384A>G (p.Thr462Ala) rs201575500 0.00011
NM_001035.3(RYR2):c.14808+3A>G rs377491955 0.00011
NM_001079866.2(BCS1L):c.550C>T (p.Arg184Cys) rs121908578 0.00011
NM_001080397.3(SLC45A1):c.629C>T (p.Ala210Val) rs150539474 0.00011
NM_001142864.4(PIEZO1):c.1006C>T (p.Arg336Cys) rs746213600 0.00011
NM_001142864.4(PIEZO1):c.1370G>A (p.Arg457His) rs371267171 0.00011
NM_001142864.4(PIEZO1):c.2392G>A (p.Val798Ile) rs931204966 0.00011
NM_001142864.4(PIEZO1):c.2857C>T (p.Arg953Cys) rs774602954 0.00011
NM_001142864.4(PIEZO1):c.440G>A (p.Arg147Gln) rs1021076058 0.00011
NM_001142864.4(PIEZO1):c.5770G>A (p.Gly1924Arg) rs778289969 0.00011
NM_001164508.2(NEB):c.12298C>G (p.Gln4100Glu) rs373829936 0.00011
NM_001164508.2(NEB):c.21406A>T (p.Met7136Leu) rs886038447 0.00011
NM_001267550.2(TTN):c.100226G>A (p.Cys33409Tyr) rs201112096 0.00011
NM_001267550.2(TTN):c.100417G>A (p.Gly33473Ser) rs397517783 0.00011
NM_001267550.2(TTN):c.102524G>A (p.Arg34175Gln) rs201954720 0.00011
NM_001267550.2(TTN):c.105940G>A (p.Ala35314Thr) rs377171054 0.00011
NM_001267550.2(TTN):c.106442A>G (p.Lys35481Arg) rs200716018 0.00011
NM_001267550.2(TTN):c.16121G>A (p.Cys5374Tyr) rs375577529 0.00011
NM_001267550.2(TTN):c.16551G>A (p.Ser5517=) rs376037792 0.00011
NM_001267550.2(TTN):c.1943G>C (p.Arg648Thr) rs550441902 0.00011
NM_001267550.2(TTN):c.19881G>A (p.Ser6627=) rs371495674 0.00011
NM_001267550.2(TTN):c.22090C>T (p.Arg7364Trp) rs397517500 0.00011
NM_001267550.2(TTN):c.227G>C (p.Gly76Ala) rs138750421 0.00011
NM_001267550.2(TTN):c.25660A>G (p.Lys8554Glu) rs201945791 0.00011
NM_001267550.2(TTN):c.40796C>T (p.Thr13599Ile) rs370418677 0.00011
NM_001267550.2(TTN):c.4261C>T (p.Arg1421Trp) rs144672482 0.00011
NM_001267550.2(TTN):c.43G>A (p.Val15Ile) rs201857541 0.00011
NM_001267550.2(TTN):c.45247C>T (p.Arg15083Trp) rs199834143 0.00011
NM_001267550.2(TTN):c.50858-3C>T rs587782987 0.00011
NM_001267550.2(TTN):c.51712C>T (p.Pro17238Ser) rs773035917 0.00011
NM_001267550.2(TTN):c.51887G>A (p.Arg17296His) rs200456782 0.00011
NM_001267550.2(TTN):c.52702A>G (p.Ile17568Val) rs377571654 0.00011
NM_001267550.2(TTN):c.53012C>T (p.Ala17671Val) rs549478203 0.00011
NM_001267550.2(TTN):c.54685G>A (p.Val18229Met) rs116142642 0.00011
NM_001267550.2(TTN):c.55378A>G (p.Thr18460Ala) rs727503600 0.00011
NM_001267550.2(TTN):c.57073G>A (p.Val19025Ile) rs181957743 0.00011
NM_001267550.2(TTN):c.63775G>A (p.Val21259Ile) rs371286595 0.00011
NM_001267550.2(TTN):c.66051G>A (p.Val22017=) rs587780981 0.00011
NM_001267550.2(TTN):c.66703G>A (p.Val22235Ile) rs751354601 0.00011
NM_001267550.2(TTN):c.71155A>G (p.Ile23719Val) rs201818722 0.00011
NM_001267550.2(TTN):c.73334C>T (p.Thr24445Ile) rs377334665 0.00011
NM_001267550.2(TTN):c.75914C>T (p.Pro25305Leu) rs142453163 0.00011
NM_001267550.2(TTN):c.76673A>T (p.Asp25558Val) rs201095164 0.00011
NM_001267550.2(TTN):c.80160T>G (p.Ile26720Met) rs376363284 0.00011
NM_001267550.2(TTN):c.81856G>A (p.Val27286Ile) rs372784067 0.00011
NM_001267550.2(TTN):c.84946G>C (p.Glu28316Gln) rs183238138 0.00011
NM_001267550.2(TTN):c.88123C>T (p.Arg29375Cys) rs368439674 0.00011
NM_001267550.2(TTN):c.88496T>G (p.Leu29499Arg) rs72648234 0.00011
NM_001267550.2(TTN):c.90181G>A (p.Val30061Ile) rs138958733 0.00011
NM_001267550.2(TTN):c.91399C>T (p.Arg30467Cys) rs775591945 0.00011
NM_001267550.2(TTN):c.91621G>A (p.Gly30541Arg) rs200854704 0.00011
NM_001267550.2(TTN):c.93214C>T (p.Arg31072Cys) rs368932767 0.00011
NM_001267550.2(TTN):c.97198C>A (p.Pro32400Thr) rs373876117 0.00011
NM_001267550.2(TTN):c.98556T>C (p.Gly32852=) rs373853269 0.00011
NM_001267550.2(TTN):c.98809A>G (p.Lys32937Glu) rs200544701 0.00011
NM_001267550.2(TTN):c.99982G>A (p.Val33328Met) rs372302484 0.00011
NM_001332.4(CTNND2):c.593C>T (p.Thr198Met) rs141302945 0.00011
NM_001347702.2(SYNE1):c.1464T>G (p.Pro488=) rs770649913 0.00011
NM_001352754.2(ARMC9):c.1027C>T (p.Arg343Cys) rs759799287 0.00011
NM_001365276.2(TNXB):c.9637A>G (p.Arg3213Gly) rs377386505 0.00011
NM_001375808.2(LPIN2):c.1888G>A (p.Gly630Ser) rs148607670 0.00011
NM_001458.5(FLNC):c.5500C>T (p.His1834Tyr) rs377141822 0.00011
NM_001845.6(COL4A1):c.2570C>T (p.Ser857Leu) rs145861489 0.00011
NM_001849.4(COL6A2):c.1720G>C (p.Val574Leu) rs142021066 0.00011
NM_001849.4(COL6A2):c.2798G>A (p.Arg933His) rs374384263 0.00011
NM_001918.5(DBT):c.827T>G (p.Phe276Cys) rs121964999 0.00011
NM_001927.4(DES):c.665G>A (p.Arg222His) rs367961979 0.00011
NM_002437.5(MPV17):c.186+2T>C rs147952488 0.00011
NM_002529.4(NTRK1):c.1808C>G (p.Ser603Cys) rs188270548 0.00011
NM_002768.5(CHMP1A):c.88C>T (p.Gln30Ter) rs397515426 0.00011
NM_003126.4(SPTA1):c.1342C>T (p.Arg448Trp) rs199930162 0.00011
NM_003126.4(SPTA1):c.749G>A (p.Arg250His) rs759192785 0.00011
NM_003482.4(KMT2D):c.14643+3A>T rs374232950 0.00011
NM_003737.4(DCHS1):c.6180G>A (p.Gly2060=) rs145160213 0.00011
NM_004260.4(RECQL4):c.1561C>T (p.Arg521Trp) rs555407951 0.00011
NM_004281.4(BAG3):c.415C>T (p.Arg139Trp) rs556465096 0.00011
NM_004329.3(BMPR1A):c.98C>G (p.Thr33Ser) rs142454490 0.00011
NM_004385.5(VCAN):c.5489C>T (p.Ser1830Phe) rs141725839 0.00011
NM_004415.4(DSP):c.5744G>A (p.Arg1915His) rs146617683 0.00011
NM_005186.4(CAPN1):c.1605+5G>A rs375817528 0.00011
NM_005228.5(EGFR):c.61G>A (p.Ala21Thr) rs373129709 0.00011
NM_005529.7(HSPG2):c.8903G>A (p.Arg2968Gln) rs146428410 0.00011
NM_005609.4(PYGM):c.1267G>A (p.Val423Ile) rs201389731 0.00011
NM_005629.4(SLC6A8):c.92C>T (p.Pro31Leu) rs868950793 0.00011
NM_005908.4(MANBA):c.1913G>A (p.Arg638His) rs781584789 0.00011
NM_006017.3(PROM1):c.2490-2A>G rs375813885 0.00011
NM_007294.4(BRCA1):c.2002C>T (p.Leu668Phe) rs80357250 0.00011
NM_013266.4(CTNNA3):c.1231A>G (p.Ile411Val) rs372808360 0.00011
NM_013266.4(CTNNA3):c.1303A>G (p.Met435Val) rs377404952 0.00011
NM_013382.7(POMT2):c.1250A>G (p.Lys417Arg) rs147268052 0.00011
NM_014365.3(HSPB8):c.503C>T (p.Ala168Val) rs373049356 0.00011
NM_015141.4(GPD1L):c.839C>T (p.Ala280Val) rs72552291 0.00011
NM_016630.7(SPG21):c.118C>T (p.Arg40Ter) rs555126484 0.00011
NM_017780.4(CHD7):c.2273G>A (p.Arg758His) rs202208393 0.00011
NM_018006.5(TRMU):c.835G>A (p.Val279Met) rs387907022 0.00011
NM_018896.5(CACNA1G):c.2048G>A (p.Arg683His) rs539364383 0.00011
NM_020166.5(MCCC1):c.1302T>G (p.Ile434Met) rs376289130 0.00011
NM_020549.5(CHAT):c.1124G>A (p.Arg375Gln) rs201616704 0.00011
NM_020549.5(CHAT):c.406G>A (p.Val136Met) rs201479289 0.00011
NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe) rs757052602 0.00011
NM_022436.3(ABCG5):c.1336C>T (p.Arg446Ter) rs199689137 0.00011
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu) rs143031195 0.00011
NM_024596.5(MCPH1):c.1561G>T (p.Glu521Ter) rs572671721 0.00011
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594 0.00011
NM_030777.4(SLC2A10):c.1411+2T>A rs761721442 0.00011
NM_032578.4(MYPN):c.395C>T (p.Pro132Leu) rs201203517 0.00011
NM_032806.6(POMGNT2):c.1010A>G (p.Asn337Ser) rs200535361 0.00011
NM_054012.4(ASS1):c.919C>T (p.Arg307Cys) rs183276875 0.00011
NM_144988.4(ALG14):c.220G>A (p.Asp74Asn) rs769114543 0.00011
NM_144991.3(TSPEAR):c.38del (p.Leu13fs) rs778688031 0.00011
NM_152383.5(DIS3L2):c.1727G>A (p.Arg576His) rs200386096 0.00011
NM_178857.6(RP1L1):c.4594G>A (p.Ala1532Thr) rs200131312 0.00011
NM_182914.3(SYNE2):c.12379G>A (p.Asp4127Asn) rs145874555 0.00011
NM_182914.3(SYNE2):c.15031A>G (p.Ile5011Val) rs201269146 0.00011
NM_182914.3(SYNE2):c.15413C>T (p.Thr5138Met) rs145018323 0.00011
NM_182914.3(SYNE2):c.5689G>A (p.Val1897Ile) rs773841153 0.00011
NM_182914.3(SYNE2):c.687C>G (p.Asp229Glu) rs118004985 0.00011
NM_182961.4(SYNE1):c.19972A>G (p.Lys6658Glu) rs376891338 0.00011
NM_182961.4(SYNE1):c.226-2dup rs774388631 0.00011
NM_201384.3(PLEC):c.10459G>A (p.Val3487Met) rs202001247 0.00011
NM_201384.3(PLEC):c.10743C>T (p.Gly3581=) rs375573910 0.00011
NM_201384.3(PLEC):c.11077G>A (p.Ala3693Thr) rs369497741 0.00011
NM_201384.3(PLEC):c.13006G>A (p.Val4336Ile) rs201163149 0.00011
NM_201384.3(PLEC):c.13471A>G (p.Thr4491Ala) rs782756146 0.00011
NM_201384.3(PLEC):c.13486G>A (p.Gly4496Ser) rs782618187 0.00011
NM_201384.3(PLEC):c.5941C>T (p.Arg1981Trp) rs962321651 0.00011
NM_201384.3(PLEC):c.5948G>A (p.Arg1983His) rs527947459 0.00011
NM_201384.3(PLEC):c.6248C>T (p.Ala2083Val) rs781878105 0.00011
NM_201384.3(PLEC):c.6841G>A (p.Ala2281Thr) rs200618217 0.00011
NM_201384.3(PLEC):c.7082C>T (p.Thr2361Met) rs369522291 0.00011
NM_201384.3(PLEC):c.8912G>A (p.Arg2971Gln) rs552713184 0.00011
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu) rs143344549 0.00011
NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser) rs137854526 0.00011
NM_000023.4(SGCA):c.320C>T (p.Ala107Val) rs186669379 0.00010
NM_000032.5(ALAS2):c.1103G>A (p.Arg368Gln) rs371716491 0.00010
NM_000032.5(ALAS2):c.98T>C (p.Phe33Ser) rs779247451 0.00010
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter) rs118204429 0.00010
NM_000046.5(ARSB):c.914C>T (p.Thr305Ile) rs199931771 0.00010
NM_000051.4(ATM):c.7988T>C (p.Val2663Ala) rs377648506 0.00010
NM_000055.4(BCHE):c.1004T>C (p.Leu335Pro) rs104893684 0.00010
NM_000069.3(CACNA1S):c.1325T>C (p.Val442Ala) rs202217590 0.00010
NM_000071.3(CBS):c.700G>A (p.Asp234Asn) rs773734233 0.00010
NM_000081.4(LYST):c.2826A>G (p.Pro942=) rs149558986 0.00010
NM_000091.5(COL4A3):c.2662G>A (p.Asp888Asn) rs376762135 0.00010
NM_000091.5(COL4A3):c.3255G>A (p.Met1085Ile) rs374427586 0.00010
NM_000152.5(GAA):c.1920T>G (p.Pro640=) rs144090460 0.00010
NM_000154.2(GALK1):c.766C>T (p.Arg256Trp) rs376790302 0.00010
NM_000156.6(GAMT):c.298C>T (p.Arg100Trp) rs552210450 0.00010
NM_000202.8(IDS):c.1499C>T (p.Thr500Ile) rs372205468 0.00010
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097 0.00010
NM_000260.4(MYO7A):c.2122A>G (p.Met708Val) rs397516293 0.00010
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter) rs104894592 0.00010
NM_000268.4(NF2):c.1445C>G (p.Pro482Arg) rs766339217 0.00010
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851 0.00010
NM_000286.3(PEX12):c.681-2A>C rs187526749 0.00010
NM_000298.6(PKLR):c.1365C>T (p.Thr455=) rs146708702 0.00010
NM_000334.4(SCN4A):c.5468C>G (p.Pro1823Arg) rs376833596 0.00010
NM_000337.6(SGCD):c.394G>A (p.Val132Ile) rs367819390 0.00010
NM_000337.6(SGCD):c.793G>A (p.Val265Ile) rs772185467 0.00010
NM_000388.4(CASR):c.73C>T (p.Arg25Ter) rs201633414 0.00010
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327 0.00010
NM_000426.4(LAMA2):c.9161C>A (p.Ala3054Glu) rs151049890 0.00010
NM_000426.4(LAMA2):c.9262A>G (p.Ile3088Val) rs768834542 0.00010
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys) rs201118034 0.00010
NM_000518.5(HBB):c.93-21G>A rs35004220 0.00010
NM_000540.3(RYR1):c.418G>A (p.Ala140Thr) rs142474192 0.00010
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp) rs200546266 0.00010
NM_000540.3(RYR1):c.7261G>T (p.Ala2421Ser) rs193922808 0.00010
NM_000540.3(RYR1):c.7433C>A (p.Thr2478Asn) rs141298868 0.00010
NM_000553.6(WRN):c.4127C>T (p.Pro1376Leu) rs146055899 0.00010
NM_000553.6(WRN):c.514A>C (p.Thr172Pro) rs367991517 0.00010
NM_001003722.2(GLE1):c.1706G>A (p.Arg569His) rs121434407 0.00010
NM_001110556.2(FLNA):c.1376C>T (p.Thr459Met) rs375463904 0.00010
NM_001128227.3(GNE):c.-3G>A rs368762704 0.00010
NM_001130987.2(DYSF):c.4078C>T (p.Arg1360Trp) rs199870606 0.00010
NM_001142864.4(PIEZO1):c.4364C>T (p.Ala1455Val) rs779308700 0.00010
NM_001142864.4(PIEZO1):c.5068C>T (p.Leu1690Phe) rs992621550 0.00010
NM_001142864.4(PIEZO1):c.7558A>G (p.Lys2520Glu) rs570744198 0.00010
NM_001145809.2(MYH14):c.1918C>T (p.Arg640Trp) rs376267080 0.00010
NM_001164508.2(NEB):c.2573C>T (p.Ala858Val) rs372217127 0.00010
NM_001164508.2(NEB):c.7343G>A (p.Arg2448His) rs373589529 0.00010
NM_001267550.2(TTN):c.102353G>A (p.Arg34118Gln) rs551905996 0.00010
NM_001267550.2(TTN):c.104522G>A (p.Arg34841His) rs373709706 0.00010
NM_001267550.2(TTN):c.106820C>T (p.Ala35607Val) rs377337528 0.00010
NM_001267550.2(TTN):c.1333G>A (p.Ala445Thr) rs142414432 0.00010
NM_001267550.2(TTN):c.15086G>A (p.Arg5029Gln) rs200792058 0.00010
NM_001267550.2(TTN):c.18557C>T (p.Thr6186Met) rs200359082 0.00010
NM_001267550.2(TTN):c.19996C>T (p.Pro6666Ser) rs571231816 0.00010
NM_001267550.2(TTN):c.24639A>C (p.Gln8213His) rs397517510 0.00010
NM_001267550.2(TTN):c.25570G>A (p.Gly8524Arg) rs371512914 0.00010
NM_001267550.2(TTN):c.25937G>A (p.Arg8646His) rs144587343 0.00010
NM_001267550.2(TTN):c.266C>G (p.Ala89Gly) rs200165636 0.00010
NM_001267550.2(TTN):c.3035G>A (p.Arg1012Gln) rs368885310 0.00010
NM_001267550.2(TTN):c.34192G>T (p.Val11398Phe) rs551911856 0.00010
NM_001267550.2(TTN):c.4150G>T (p.Ala1384Ser) rs144609506 0.00010
NM_001267550.2(TTN):c.44036G>A (p.Arg14679Gln) rs369709751 0.00010
NM_001267550.2(TTN):c.44323G>A (p.Val14775Met) rs540115992 0.00010
NM_001267550.2(TTN):c.46222G>A (p.Ala15408Thr) rs730880239 0.00010
NM_001267550.2(TTN):c.57478G>C (p.Val19160Leu) rs200778464 0.00010
NM_001267550.2(TTN):c.59248G>A (p.Gly19750Ser) rs200732032 0.00010
NM_001267550.2(TTN):c.59729C>T (p.Thr19910Ile) rs369476725 0.00010
NM_001267550.2(TTN):c.65746C>T (p.Arg21916Trp) rs200155485 0.00010
NM_001267550.2(TTN):c.67445G>A (p.Arg22482Gln) rs200146608 0.00010
NM_001267550.2(TTN):c.68165A>G (p.Asn22722Ser) rs200493270 0.00010
NM_001267550.2(TTN):c.72802C>T (p.Arg24268Cys) rs370474301 0.00010
NM_001267550.2(TTN):c.7339G>A (p.Val2447Met) rs779064962 0.00010
NM_001267550.2(TTN):c.7597A>G (p.Ile2533Val) rs372407708 0.00010
NM_001267550.2(TTN):c.80854G>A (p.Val26952Ile) rs371362606 0.00010
NM_001267550.2(TTN):c.80983G>A (p.Glu26995Lys) rs397517719 0.00010
NM_001267550.2(TTN):c.82061T>G (p.Val27354Gly) rs368023868 0.00010
NM_001267550.2(TTN):c.82754C>A (p.Ser27585Tyr) rs72648215 0.00010
NM_001267550.2(TTN):c.89018G>A (p.Arg29673Gln) rs200639218 0.00010
NM_001267550.2(TTN):c.91732G>A (p.Val30578Ile) rs727504672 0.00010
NM_001267550.2(TTN):c.93981C>G (p.Val31327=) rs370894846 0.00010
NM_001267550.2(TTN):c.9523G>A (p.Val3175Ile) rs762667276 0.00010
NM_001267550.2(TTN):c.98807G>A (p.Arg32936His) rs774296358 0.00010
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met) rs104893688 0.00010
NM_001458.5(FLNC):c.1094A>G (p.Glu365Gly) rs752027721 0.00010
NM_001849.4(COL6A2):c.1269G>C (p.Pro423=) rs144136807 0.00010
NM_001927.4(DES):c.216C>A (p.Ser72Arg) rs375719734 0.00010
NM_002016.2(FLG):c.7837A>T (p.Arg2613Ter) rs567795279 0.00010
NM_002778.4(PSAP):c.1172C>T (p.Thr391Met) rs202125074 0.00010
NM_003126.4(SPTA1):c.2672G>A (p.Arg891Gln) rs36057043 0.00010
NM_003126.4(SPTA1):c.3940T>C (p.Ser1314Pro) rs200308788 0.00010
NM_004006.3(DMD):c.2183T>C (p.Ile728Thr) rs192004962 0.00010
NM_004082.5(DCTN1):c.1997C>T (p.Thr666Met) rs143914684 0.00010
NM_004082.5(DCTN1):c.2353C>T (p.Arg785Trp) rs121909344 0.00010
NM_005334.3(HCFC1):c.8C>T (p.Ser3Leu) rs781948229 0.00010
NM_005529.7(HSPG2):c.1844G>A (p.Arg615His) rs189089389 0.00010
NM_005529.7(HSPG2):c.5815G>A (p.Ala1939Thr) rs145474376 0.00010
NM_005548.3(KARS1):c.222+10C>T rs374496494 0.00010
NM_005633.4(SOS1):c.2165G>A (p.Arg722Lys) rs142666652 0.00010
NM_006261.5(PROP1):c.349T>A (p.Phe117Ile) rs121917840 0.00010
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter) rs546989392 0.00010
NM_006946.4(SPTBN2):c.4535G>A (p.Ser1512Asn) rs753562212 0.00010
NM_012309.5(SHANK2):c.581C>T (p.Pro194Leu) rs782210973 0.00010
NM_014727.3(KMT2B):c.1303C>G (p.Pro435Ala) rs748073369 0.00010
NM_014845.6(FIG4):c.640G>A (p.Gly214Arg) rs529048339 0.00010
NM_015295.3(SMCHD1):c.4912G>A (p.Val1638Ile) rs370473143 0.00010
NM_015559.3(SETBP1):c.575A>G (p.His192Arg) rs569466922 0.00010
NM_016327.3(UPB1):c.105-2A>G rs138081800 0.00010
NM_016401.4(HIKESHI):c.160G>C (p.Val54Leu) rs202003795 0.00010
NM_017534.6(MYH2):c.3615T>C (p.Ser1205=) rs751186949 0.00010
NM_017617.5(NOTCH1):c.4096G>A (p.Gly1366Ser) rs778270588 0.00010
NM_020433.5(JPH2):c.1896G>C (p.Glu632Asp) rs367563723 0.00010
NM_020549.5(CHAT):c.119G>T (p.Gly40Val) rs776411377 0.00010
NM_022489.4(INF2):c.2489G>T (p.Gly830Val) rs377340315 0.00010
NM_024301.5(FKRP):c.731G>A (p.Arg244His) rs764641619 0.00010
NM_025074.7(FRAS1):c.4181G>C (p.Gly1394Ala) rs376487875 0.00010
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) rs201689565 0.00010
NM_030777.4(SLC2A10):c.691C>T (p.Arg231Trp) rs146579504 0.00010
NM_031293.3(PMFBP1):c.2725C>T (p.Arg909Ter) rs140352254 0.00010
NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro) rs138043021 0.00010
NM_032119.4(ADGRV1):c.466G>A (p.Ala156Thr) rs201180985 0.00010
NM_080680.3(COL11A2):c.4898G>A (p.Gly1633Asp) rs143920565 0.00010
NM_139242.4(MTFMT):c.17G>C (p.Arg6Pro) rs771777757 0.00010
NM_152564.5(VPS13B):c.6657+1G>A rs180177366 0.00010
NM_170707.4(LMNA):c.1978A>G (p.Asn660Asp) rs374926367 0.00010
NM_176787.5(PIGN):c.548_549+6del rs779636222 0.00010
NM_182914.3(SYNE2):c.2665A>G (p.Asn889Asp) rs370800852 0.00010
NM_201384.3(PLEC):c.11015G>C (p.Ser3672Thr) rs782767733 0.00010
NM_201384.3(PLEC):c.13636G>A (p.Val4546Met) rs573424409 0.00010
NM_201384.3(PLEC):c.2458-7G>A rs372799330 0.00010
NM_201384.3(PLEC):c.6464C>T (p.Ala2155Val) rs201922111 0.00010
NM_201384.3(PLEC):c.9406G>A (p.Ala3136Thr) rs200680102 0.00010
NM_201384.3(PLEC):c.9576C>T (p.Tyr3192=) rs201460864 0.00010
NM_203447.4(DOCK8):c.3234+2T>C rs756871628 0.00010
NM_213599.3(ANO5):c.242A>G (p.Asp81Gly) rs199501657 0.00010
NM_000018.4(ACADVL):c.520G>A (p.Val174Met) rs369560930 0.00009
NM_000023.4(SGCA):c.764C>T (p.Pro255Leu) rs138019537 0.00009
NM_000037.4(ANK1):c.3652C>T (p.Arg1218Trp) rs142542271 0.00009
NM_000037.4(ANK1):c.4160G>A (p.Ser1387Asn) rs142425754 0.00009
NM_000046.5(ARSB):c.1122C>T (p.Phe374=) rs149886659 0.00009
NM_000053.4(ATP7B):c.2731-2A>G rs367956522 0.00009
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala) rs374094065 0.00009
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817 0.00009
NM_000069.3(CACNA1S):c.3190G>A (p.Val1064Ile) rs138837077 0.00009
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys) rs149914792 0.00009
NM_000070.3(CAPN3):c.2311G>A (p.Ala771Thr) rs886043191 0.00009
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter) rs151242354 0.00009
NM_000152.5(GAA):c.1979G>A (p.Arg660His) rs374143224 0.00009
NM_000157.4(GBA1):c.1225-3T>C rs377143075 0.00009
NM_000170.3(GLDC):c.2607C>A (p.Pro869=) rs386833565 0.00009
NM_000199.5(SGSH):c.780C>T (p.Ala260=) rs530964770 0.00009
NM_000214.3(JAG1):c.1826C>T (p.Ser609Leu) rs199505265 0.00009
NM_000245.4(MET):c.2318C>T (p.Pro773Leu) rs771333219 0.00009
NM_000251.3(MSH2):c.382C>G (p.Leu128Val) rs145649774 0.00009
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485 0.00009
NM_000257.4(MYH7):c.5559+5G>A rs371177871 0.00009
NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile) rs765779905 0.00009
NM_000277.3(PAH):c.1045T>C (p.Ser349Pro) rs62508646 0.00009
NM_000334.4(SCN4A):c.1120G>A (p.Glu374Lys) rs766463226 0.00009
NM_000334.4(SCN4A):c.3136G>T (p.Gly1046Trp) rs759982229 0.00009
NM_000335.5(SCN5A):c.1598G>A (p.Arg533His) rs146848219 0.00009
NM_000348.4(SRD5A2):c.737G>A (p.Arg246Gln) rs9332967 0.00009
NM_000350.3(ABCA4):c.5881G>A (p.Gly1961Arg) rs142253670 0.00009
NM_000350.3(ABCA4):c.71G>A (p.Arg24His) rs62645958 0.00009
NM_000392.5(ABCC2):c.3449G>A (p.Arg1150His) rs72558200 0.00009
NM_000414.4(HSD17B4):c.1625G>A (p.Arg542Lys) rs546653967 0.00009
NM_000414.4(HSD17B4):c.1767G>T (p.Lys589Asn) rs142527052 0.00009
NM_000426.4(LAMA2):c.5317C>T (p.Arg1773Trp) rs138695453 0.00009
NM_000441.2(SLC26A4):c.841G>A (p.Val281Ile) rs727505080 0.00009
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp) rs121909011 0.00009
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu) rs201573863 0.00009
NM_000527.5(LDLR):c.907C>T (p.Arg303Trp) rs151207122 0.00009
NM_000540.3(RYR1):c.10664A>T (p.Asn3555Ile) rs199689862 0.00009
NM_000540.3(RYR1):c.13849G>A (p.Gly4617Arg) rs202226983 0.00009
NM_000540.3(RYR1):c.4185C>T (p.Val1395=) rs761955179 0.00009
NM_000540.3(RYR1):c.9063G>A (p.Pro3021=) rs200068725 0.00009
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) rs28940298 0.00009
NM_001037.5(SCN1B):c.457G>A (p.Asp153Asn) rs72550247 0.00009
NM_001038603.3(MARVELD2):c.1498C>T (p.Arg500Ter) rs118203957 0.00009
NM_001046.3(SLC12A2):c.449C>T (p.Ser150Leu) rs114437564 0.00009
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) rs140342925 0.00009
NM_001083961.2(WDR62):c.1043+3A>G rs587784541 0.00009
NM_001110556.2(FLNA):c.2123G>A (p.Arg708Gln) rs371707134 0.00009
NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His) rs121909380 0.00009
NM_001127222.2(CACNA1A):c.3544G>A (p.Val1182Ile) rs369742607 0.00009
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter) rs200440467 0.00009
NM_001130438.3(SPTAN1):c.4039G>A (p.Asp1347Asn) rs574740801 0.00009
NM_001130987.2(DYSF):c.4037C>T (p.Ala1346Val) rs201476613 0.00009
NM_001136271.3(NKX2-6):c.276G>A (p.Gln92=) rs768775204 0.00009
NM_001142864.4(PIEZO1):c.1466G>A (p.Arg489His) rs534638031 0.00009
NM_001142864.4(PIEZO1):c.4820T>C (p.Met1607Thr) rs756364348 0.00009
NM_001142864.4(PIEZO1):c.6584C>T (p.Ser2195Leu) rs766429217 0.00009
NM_001142864.4(PIEZO1):c.7184C>T (p.Ala2395Val) rs201347067 0.00009
NM_001164508.2(NEB):c.13204A>G (p.Ser4402Gly) rs1475846023 0.00009
NM_001164508.2(NEB):c.194C>T (p.Pro65Leu) rs375909006 0.00009
NM_001171613.2(PREPL):c.1753+1G>T rs148092524 0.00009
NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter) rs199947197 0.00009
NM_001199753.2(CPT1C):c.1894G>A (p.Val632Met) rs141139944 0.00009
NM_001267550.2(TTN):c.101378A>T (p.Asp33793Val) rs200675195 0.00009
NM_001267550.2(TTN):c.102428T>C (p.Met34143Thr) rs397517786 0.00009
NM_001267550.2(TTN):c.105091G>A (p.Val35031Met) rs552058608 0.00009
NM_001267550.2(TTN):c.14309A>G (p.Tyr4770Cys) rs371552518 0.00009
NM_001267550.2(TTN):c.14518A>C (p.Asn4840His) rs199997460 0.00009
NM_001267550.2(TTN):c.1585G>A (p.Ala529Thr) rs143030869 0.00009
NM_001267550.2(TTN):c.16934C>T (p.Pro5645Leu) rs370889765 0.00009
NM_001267550.2(TTN):c.17806A>G (p.Ile5936Val) rs72648945 0.00009
NM_001267550.2(TTN):c.21475G>A (p.Val7159Ile) rs371267140 0.00009
NM_001267550.2(TTN):c.22312C>T (p.Leu7438Phe) rs371114946 0.00009
NM_001267550.2(TTN):c.22667G>A (p.Arg7556His) rs374344734 0.00009
NM_001267550.2(TTN):c.22968C>T (p.Asn7656=) rs201904848 0.00009
NM_001267550.2(TTN):c.25145G>A (p.Arg8382His) rs199598066 0.00009
NM_001267550.2(TTN):c.25557C>T (p.Gly8519=) rs372320172 0.00009
NM_001267550.2(TTN):c.25563C>T (p.Gly8521=) rs556205722 0.00009
NM_001267550.2(TTN):c.2611G>T (p.Val871Leu) rs72647861 0.00009
NM_001267550.2(TTN):c.34982T>C (p.Val11661Ala) rs199561793 0.00009
NM_001267550.2(TTN):c.3608G>C (p.Gly1203Ala) rs564353179 0.00009
NM_001267550.2(TTN):c.40395A>G (p.Ile13465Met) rs766145596 0.00009
NM_001267550.2(TTN):c.41596G>A (p.Val13866Ile) rs375474669 0.00009
NM_001267550.2(TTN):c.44734C>T (p.His14912Tyr) rs766391823 0.00009
NM_001267550.2(TTN):c.47242A>C (p.Asn15748His) rs368988689 0.00009
NM_001267550.2(TTN):c.50480G>A (p.Arg16827Gln) rs138896856 0.00009
NM_001267550.2(TTN):c.50774T>C (p.Val16925Ala) rs370067597 0.00009
NM_001267550.2(TTN):c.5314A>G (p.Ser1772Gly) rs150725992 0.00009
NM_001267550.2(TTN):c.53780T>C (p.Leu17927Pro) rs369678018 0.00009
NM_001267550.2(TTN):c.53903G>A (p.Arg17968His) rs200100660 0.00009
NM_001267550.2(TTN):c.54068G>A (p.Arg18023Gln) rs727503603 0.00009
NM_001267550.2(TTN):c.54109C>T (p.Arg18037Trp) rs201623791 0.00009
NM_001267550.2(TTN):c.58857A>C (p.Glu19619Asp) rs368026488 0.00009
NM_001267550.2(TTN):c.60146G>A (p.Arg20049His) rs200455644 0.00009
NM_001267550.2(TTN):c.62546C>T (p.Thr20849Met) rs372685222 0.00009
NM_001267550.2(TTN):c.65515G>A (p.Ala21839Thr) rs56378177 0.00009
NM_001267550.2(TTN):c.65574T>C (p.Asn21858=) rs374858668 0.00009
NM_001267550.2(TTN):c.66601G>A (p.Asp22201Asn) rs368924655 0.00009
NM_001267550.2(TTN):c.72674C>T (p.Pro24225Leu) rs55992239 0.00009
NM_001267550.2(TTN):c.72826A>T (p.Thr24276Ser) rs373204984 0.00009
NM_001267550.2(TTN):c.75259G>A (p.Ala25087Thr) rs759110420 0.00009
NM_001267550.2(TTN):c.76610G>A (p.Arg25537His) rs561977468 0.00009
NM_001267550.2(TTN):c.77707G>A (p.Val25903Ile) rs570615498 0.00009
NM_001267550.2(TTN):c.78906A>C (p.Glu26302Asp) rs534003014 0.00009
NM_001267550.2(TTN):c.79334G>A (p.Arg26445His) rs764254441 0.00009
NM_001267550.2(TTN):c.84965G>A (p.Arg28322His) rs373532064 0.00009
NM_001267550.2(TTN):c.86471C>T (p.Thr28824Ile) rs200709344 0.00009
NM_001267550.2(TTN):c.87280G>A (p.Glu29094Lys) rs199501185 0.00009
NM_001267550.2(TTN):c.8788G>A (p.Val2930Ile) rs56373393 0.00009
NM_001267550.2(TTN):c.88285A>G (p.Ile29429Val) rs373738818 0.00009
NM_001267550.2(TTN):c.89357C>T (p.Thr29786Ile) rs753966916 0.00009
NM_001267550.2(TTN):c.89515A>G (p.Ile29839Val) rs750806089 0.00009
NM_001267550.2(TTN):c.89947G>A (p.Val29983Met) rs397517746 0.00009
NM_001267550.2(TTN):c.90950T>C (p.Val30317Ala) rs759474127 0.00009
NM_001267550.2(TTN):c.91373G>A (p.Ser30458Asn) rs376634713 0.00009
NM_001267550.2(TTN):c.92677A>G (p.Lys30893Glu) rs370541682 0.00009
NM_001267550.2(TTN):c.93860T>C (p.Phe31287Ser) rs374887049 0.00009
NM_001267550.2(TTN):c.96989T>C (p.Ile32330Thr) rs201023432 0.00009
NM_001267550.2(TTN):c.97247C>T (p.Ser32416Leu) rs377412567 0.00009
NM_001267550.2(TTN):c.9955G>A (p.Val3319Ile) rs375533809 0.00009
NM_001271.4(CHD2):c.4058C>T (p.Pro1353Leu) rs755088564 0.00009
NM_001330701.2(AGTPBP1):c.-66del rs549877950 0.00009
NM_001355436.2(SPTB):c.65G>A (p.Arg22His) rs200116664 0.00009
NM_001360.3(DHCR7):c.278C>T (p.Thr93Met) rs80338853 0.00009
NM_001360.3(DHCR7):c.440G>A (p.Gly147Asp) rs777425801 0.00009
NM_001378609.3(OTOGL):c.236-2A>G rs766564988 0.00009
NM_001379200.1(TBX1):c.1402G>C (p.Val468Leu) rs764197422 0.00009
NM_001458.5(FLNC):c.1606G>A (p.Glu536Lys) rs141616435 0.00009
NM_001458.5(FLNC):c.1645A>G (p.Ile549Val) rs547997371 0.00009
NM_001458.5(FLNC):c.3623C>T (p.Ala1208Val) rs202184162 0.00009
NM_001458.5(FLNC):c.4651G>A (p.Ala1551Thr) rs565918031 0.00009
NM_001458.5(FLNC):c.7289C>T (p.Ala2430Val) rs200516164 0.00009
NM_001845.6(COL4A1):c.2903G>A (p.Arg968Gln) rs146288748 0.00009
NM_001848.3(COL6A1):c.2746G>A (p.Val916Ile) rs563043611 0.00009
NM_001849.4(COL6A2):c.2582G>A (p.Arg861Gln) rs373813975 0.00009
NM_001927.4(DES):c.250G>A (p.Gly84Ser) rs200545412 0.00009
NM_001999.4(FBN2):c.4763A>T (p.Asp1588Val) rs202218356 0.00009
NM_002335.4(LRP5):c.3697G>A (p.Asp1233Asn) rs146388120 0.00009
NM_003060.4(SLC22A5):c.1400C>G (p.Ser467Cys) rs60376624 0.00009
NM_003126.4(SPTA1):c.122G>A (p.Arg41Gln) rs778903567 0.00009
NM_003126.4(SPTA1):c.3697G>A (p.Val1233Ile) rs369125471 0.00009
NM_003126.4(SPTA1):c.4347G>T (p.Lys1449Asn) rs375506528 0.00009
NM_003126.4(SPTA1):c.6632G>A (p.Arg2211His) rs751062593 0.00009
NM_003482.4(KMT2D):c.14701C>G (p.Leu4901Val) rs781467355 0.00009
NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln) rs149712244 0.00009
NM_003737.4(DCHS1):c.8043C>T (p.Asp2681=) rs549044948 0.00009
NM_003742.4(ABCB11):c.1460G>A (p.Arg487His) rs188824058 0.00009
NM_004092.4(ECHS1):c.476A>G (p.Gln159Arg) rs375032130 0.00009
NM_004281.4(BAG3):c.554C>T (p.Ser185Leu) rs730880054 0.00009
NM_004320.6(ATP2A1):c.1766C>T (p.Thr589Met) rs200285714 0.00009
NM_004329.3(BMPR1A):c.1348G>A (p.Val450Met) rs55932635 0.00009
NM_004369.4(COL6A3):c.4663G>A (p.Asp1555Asn) rs763162762 0.00009
NM_004369.4(COL6A3):c.466G>T (p.Asp156Tyr) rs199632952 0.00009
NM_004369.4(COL6A3):c.5589C>T (p.Asp1863=) rs144592806 0.00009
NM_004370.6(COL12A1):c.8420G>A (p.Arg2807His) rs186328815 0.00009
NM_004813.4(PEX16):c.262G>A (p.Val88Met) rs567165324 0.00009
NM_005562.3(LAMC2):c.1039C>T (p.Arg347Cys) rs188149266 0.00009
NM_005609.4(PYGM):c.425-26A>G rs764313717 0.00009
NM_005609.4(PYGM):c.877C>T (p.Arg293Trp) rs558267822 0.00009
NM_005633.4(SOS1):c.7G>T (p.Ala3Ser) rs533757634 0.00009
NM_005883.3(APC2):c.1432G>A (p.Val478Ile) rs150518571 0.00009
NM_006005.3(WFS1):c.976G>A (p.Ala326Thr) rs200790641 0.00009
NM_006158.5(NEFL):c.628G>C (p.Glu210Gln) rs199422214 0.00009
NM_006231.4(POLE):c.761C>T (p.Pro254Leu) rs200211438 0.00009
NM_006618.5(KDM5B):c.2474+1G>A rs542983923 0.00009
NM_006767.4(LZTR1):c.2428C>T (p.Arg810Trp) rs776893978 0.00009
NM_006876.3(B4GAT1):c.196G>A (p.Ala66Thr) rs765114036 0.00009
NM_007103.4(NDUFV1):c.1157G>A (p.Arg386His) rs536758576 0.00009
NM_007126.5(VCP):c.1202A>G (p.Asn401Ser) rs148329626 0.00009
NM_007194.4(CHEK2):c.319+2T>A rs587782401 0.00009
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_007215.4(POLG2):c.1417G>A (p.Asp473Asn) rs563130304 0.00009
NM_007327.4(GRIN1):c.610G>A (p.Val204Met) rs140422926 0.00009
NM_012472.6(DNAAF11):c.299T>C (p.Ile100Thr) rs139008774 0.00009
NM_014140.4(SMARCAL1):c.2070+2dup rs762716070 0.00009
NM_014967.5(FAN1):c.2854C>T (p.Arg952Ter) rs184745027 0.00009
NM_015087.5(SPART):c.364_365del (p.Met122fs) rs775736341 0.00009
NM_016327.3(UPB1):c.873+1G>A rs747539101 0.00009
NM_017534.6(MYH2):c.1566C>T (p.Ala522=) rs142383679 0.00009
NM_018451.5(CPAP):c.1586C>G (p.Ser529Ter) rs202058504 0.00009
NM_019892.6(INPP5E):c.976G>A (p.Glu326Lys) rs200794870 0.00009
NM_020117.11(LARS1):c.2770-2A>G rs139456270 0.00009
NM_020549.5(CHAT):c.964C>T (p.Arg322Cys) rs147815999 0.00009
NM_020987.5(ANK3):c.1267G>A (p.Gly423Ser) rs139379111 0.00009
NM_021942.6(TRAPPC11):c.1058C>G (p.Ala353Gly) rs200078740 0.00009
NM_022089.4(ATP13A2):c.477+2T>G rs758014228 0.00009
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn) rs111033271 0.00009
NM_024105.4(ALG12):c.563G>A (p.Cys188Tyr) rs555600636 0.00009
NM_024334.3(TMEM43):c.428C>T (p.Thr143Met) rs544554435 0.00009
NM_024407.5(NDUFS7):c.364G>A (p.Val122Met) rs104894705 0.00009
NM_024757.5(EHMT1):c.70G>A (p.Glu24Lys) rs373269573 0.00009
NM_025114.4(CEP290):c.4437+1G>A rs760915898 0.00009
NM_054012.4(ASS1):c.1003C>T (p.Arg335Cys) rs373514077 0.00009
NM_144687.4(NLRP12):c.1349C>T (p.Pro450Leu) rs143640165 0.00009
NM_145262.4(GLYCTK):c.1478T>G (p.Phe493Cys) rs121909448 0.00009
NM_152383.5(DIS3L2):c.1300G>A (p.Val434Ile) rs758366698 0.00009
NM_153700.2(STRC):c.4027C>T (p.Gln1343Ter) rs144948296 0.00009
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg) rs201893408 0.00009
NM_170707.4(LMNA):c.1390A>G (p.Met464Val) rs200262654 0.00009
NM_175875.5(SIX5):c.886G>A (p.Ala296Thr) rs80356462 0.00009
NM_182914.3(SYNE2):c.18550C>T (p.Arg6184Trp) rs761998546 0.00009
NM_182961.4(SYNE1):c.13421G>A (p.Arg4474Gln) rs771898973 0.00009
NM_182961.4(SYNE1):c.24977-1718G>A rs370143116 0.00009
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro) rs79761867 0.00009
NM_198576.4(AGRN):c.1343G>A (p.Arg448Gln) rs772102866 0.00009
NM_201384.3(PLEC):c.11288C>T (p.Ser3763Leu) rs377598440 0.00009
NM_201384.3(PLEC):c.12985C>T (p.Arg4329Cys) rs375593618 0.00009
NM_201384.3(PLEC):c.13240C>T (p.Arg4414Cys) rs200447944 0.00009
NM_206933.4(USH2A):c.10826G>T (p.Ser3609Ile) rs727504307 0.00009
NM_213599.3(ANO5):c.1332+8A>G rs368857740 0.00009
NM_000017.4(ACADS):c.136C>T (p.Arg46Trp) rs121908003 0.00008
NM_000048.4(ASL):c.337C>T (p.Arg113Trp) rs767543051 0.00008
NM_000048.4(ASL):c.571C>T (p.Arg191Trp) rs143508372 0.00008
NM_000052.7(ATP7A):c.2531G>A (p.Arg844His) rs367775730 0.00008
NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala) rs587783299 0.00008
NM_000081.4(LYST):c.9520G>A (p.Val3174Ile) rs199672291 0.00008
NM_000091.5(COL4A3):c.2452G>A (p.Gly818Arg) rs868002181 0.00008
NM_000093.5(COL5A1):c.3592G>A (p.Gly1198Ser) rs372499629 0.00008
NM_000097.7(CPOX):c.1210A>G (p.Lys404Glu) rs121917868 0.00008
NM_000104.4(CYP1B1):c.1169G>A (p.Arg390His) rs56010818 0.00008
NM_000123.4(ERCC5):c.1232C>T (p.Thr411Met) rs2227872 0.00008
NM_000132.4(F8):c.6089G>A (p.Ser2030Asn) rs369414658 0.00008
NM_000152.5(GAA):c.1552-3C>G rs375470378 0.00008
NM_000152.5(GAA):c.533G>A (p.Arg178His) rs762267535 0.00008
NM_000231.3(SGCG):c.497G>A (p.Arg166Gln) rs776289036 0.00008
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) rs376754645 0.00008
NM_000257.4(MYH7):c.3158G>A (p.Arg1053Gln) rs587782962 0.00008
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly) rs5030856 0.00008
NM_000277.3(PAH):c.204A>T (p.Arg68Ser) rs76394784 0.00008
NM_000335.5(SCN5A):c.2989G>A (p.Ala997Thr) rs137854609 0.00008
NM_000342.4(SLC4A1):c.1031G>A (p.Arg344Gln) rs767916903 0.00008
NM_000350.3(ABCA4):c.673G>A (p.Val225Met) rs540124349 0.00008
NM_000359.3(TGM1):c.420A>G (p.Ile140Met) rs139208806 0.00008
NM_000384.3(APOB):c.13288T>A (p.Ser4430Thr) rs72654426 0.00008
NM_000388.4(CASR):c.1188A>G (p.Thr396=) rs200312817 0.00008
NM_000404.4(GLB1):c.1325G>A (p.Arg442Gln) rs564428355 0.00008
NM_000492.4(CFTR):c.1054C>T (p.Arg352Trp) rs193922497 0.00008
NM_000540.3(RYR1):c.10648C>T (p.Arg3550Trp) rs536304635 0.00008
NM_000540.3(RYR1):c.13190C>G (p.Ala4397Gly) rs1057520588 0.00008
NM_000540.3(RYR1):c.2488C>T (p.Arg830Trp) rs142548565 0.00008
NM_000540.3(RYR1):c.5289G>A (p.Pro1763=) rs376482004 0.00008
NM_000969.5(RPL5):c.418G>A (p.Gly140Ser) rs121434406 0.00008
NM_001048174.2(MUTYH):c.901G>A (p.Val301Met) rs147718169 0.00008
NM_001077365.2(POMT1):c.752C>T (p.Pro251Leu) rs139660235 0.00008
NM_001126108.2(SLC12A3):c.1664C>T (p.Ser555Leu) rs148038173 0.00008
NM_001126108.2(SLC12A3):c.2186G>T (p.Gly729Val) rs373901523 0.00008
NM_001126108.2(SLC12A3):c.2864G>A (p.Arg955Gln) rs202114767 0.00008
NM_001126108.2(SLC12A3):c.2954G>A (p.Cys985Tyr) rs199849117 0.00008
NM_001130987.2(DYSF):c.2159C>T (p.Thr720Met) rs775539496 0.00008
NM_001142864.4(PIEZO1):c.5564C>T (p.Pro1855Leu) rs764696200 0.00008
NM_001267550.2(TTN):c.105416C>T (p.Thr35139Ile) rs200782068 0.00008
NM_001267550.2(TTN):c.105757G>A (p.Val35253Met) rs373655492 0.00008
NM_001267550.2(TTN):c.107384T>C (p.Val35795Ala) rs549598246 0.00008
NM_001267550.2(TTN):c.25637A>G (p.Gln8546Arg) rs548471822 0.00008
NM_001267550.2(TTN):c.2767G>A (p.Glu923Lys) rs369195237 0.00008
NM_001267550.2(TTN):c.28354G>A (p.Ala9452Thr) rs527663092 0.00008
NM_001267550.2(TTN):c.29317G>A (p.Ala9773Thr) rs371163094 0.00008
NM_001267550.2(TTN):c.3713C>A (p.Thr1238Asn) rs147020824 0.00008
NM_001267550.2(TTN):c.4049G>A (p.Arg1350His) rs539470256 0.00008
NM_001267550.2(TTN):c.47860G>A (p.Ala15954Thr) rs377037421 0.00008
NM_001267550.2(TTN):c.48462G>A (p.Thr16154=) rs202141158 0.00008
NM_001267550.2(TTN):c.48556C>T (p.Arg16186Cys) rs377563403 0.00008
NM_001267550.2(TTN):c.51247G>T (p.Val17083Phe) rs746817480 0.00008
NM_001267550.2(TTN):c.54053A>T (p.Lys18018Met) rs368425364 0.00008
NM_001267550.2(TTN):c.55396G>A (p.Gly18466Arg) rs772677752 0.00008
NM_001267550.2(TTN):c.62723G>A (p.Arg20908Gln) rs377203669 0.00008
NM_001267550.2(TTN):c.65416C>T (p.Arg21806Trp) rs778703530 0.00008
NM_001267550.2(TTN):c.66086G>A (p.Arg22029His) rs72646868 0.00008
NM_001267550.2(TTN):c.67615G>A (p.Val22539Ile) rs558955595 0.00008
NM_001267550.2(TTN):c.68097G>C (p.Gln22699His) rs727504520 0.00008
NM_001267550.2(TTN):c.6959G>A (p.Arg2320His) rs374615369 0.00008
NM_001267550.2(TTN):c.81758A>G (p.Asn27253Ser) rs529055709 0.00008
NM_001267550.2(TTN):c.82488C>T (p.Asp27496=) rs373909196 0.00008
NM_001267550.2(TTN):c.85472G>A (p.Arg28491His) rs373129706 0.00008
NM_001267550.2(TTN):c.92710A>G (p.Lys30904Glu) rs370265204 0.00008
NM_001267550.2(TTN):c.92806G>A (p.Val30936Ile) rs200476500 0.00008
NM_001267550.2(TTN):c.95462A>G (p.Lys31821Arg) rs372388579 0.00008
NM_001267550.2(TTN):c.96172C>T (p.Arg32058Trp) rs201463708 0.00008
NM_001267550.2(TTN):c.98431C>T (p.Arg32811Cys) rs371807358 0.00008
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) rs201540674 0.00008
NM_001363711.2(DUOX2):c.3693+1G>T rs200717240 0.00008
NM_001457.4(FLNB):c.5348C>T (p.Thr1783Met) rs189785975 0.00008
NM_001844.5(COL2A1):c.3007G>A (p.Glu1003Lys) rs376772481 0.00008
NM_001927.4(DES):c.193G>A (p.Gly65Ser) rs397516692 0.00008
NM_002465.4(MYBPC1):c.17A>T (p.Lys6Met) rs201472372 0.00008
NM_002693.3(POLG):c.1880G>A (p.Arg627Gln) rs375305567 0.00008
NM_003126.4(SPTA1):c.2665G>T (p.Ala889Ser) rs200293444 0.00008
NM_003126.4(SPTA1):c.4004G>A (p.Arg1335His) rs750860161 0.00008
NM_004004.6(GJB2):c.283G>A (p.Val95Met) rs111033299 0.00008
NM_004006.3(DMD):c.733A>G (p.Ile245Val) rs140510985 0.00008
NM_004006.3(DMD):c.8656C>G (p.Gln2886Glu) rs201361100 0.00008
NM_004369.4(COL6A3):c.4849G>A (p.Ala1617Thr) rs200433282 0.00008
NM_004614.5(TK2):c.416C>T (p.Ala139Val) rs281865494 0.00008
NM_005198.5(CHKB):c.581G>A (p.Arg194Gln) rs139818555 0.00008
NM_005609.4(PYGM):c.1363G>A (p.Gly455Ser) rs201042910 0.00008
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln) rs373190458 0.00008
NM_005901.6(SMAD2):c.579G>A (p.Leu193=) rs200480021 0.00008
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu) rs13447331 0.00008
NM_006017.3(PROM1):c.1276dup (p.Thr426fs) rs747800874 0.00008
NM_006662.3(SRCAP):c.1135-2A>G rs149689808 0.00008
NM_007103.4(NDUFV1):c.1312C>A (p.Leu438Met) rs1127511 0.00008
NM_007126.5(VCP):c.1194+3G>A rs183223259 0.00008
NM_012203.2(GRHPR):c.494G>A (p.Gly165Asp) rs180177314 0.00008
NM_014967.5(FAN1):c.2128C>T (p.Arg710Ter) rs199845994 0.00008
NM_015046.7(SETX):c.3016G>A (p.Gly1006Arg) rs141266068 0.00008
NM_017780.4(CHD7):c.602A>G (p.Gln201Arg) rs764496155 0.00008
NM_020166.5(MCCC1):c.1155A>C (p.Arg385Ser) rs119103213 0.00008
NM_020549.5(CHAT):c.326C>T (p.Thr109Met) rs542610160 0.00008
NM_020822.3(KCNT1):c.1718G>A (p.Arg573His) rs575162600 0.00008
NM_022437.3(ABCG8):c.1715T>C (p.Leu572Pro) rs769576789 0.00008
NM_022437.3(ABCG8):c.1974C>G (p.Tyr658Ter) rs137852989 0.00008
NM_023036.6(DNAI2):c.1304G>A (p.Trp435Ter) rs752924362 0.00008
NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter) rs376161880 0.00008
NM_024685.4(BBS10):c.1265G>A (p.Arg422Gln) rs138961848 0.00008
NM_024757.5(EHMT1):c.3848A>C (p.Glu1283Ala) rs398124408 0.00008
NM_025243.4(SLC19A3):c.980-14A>G rs200542114 0.00008
NM_031372.4(HNRNPDL):c.314C>T (p.Thr105Ile) rs763175161 0.00008
NM_032237.5(POMK):c.704A>G (p.Asn235Ser) rs200742772 0.00008
NM_033109.5(PNPT1):c.1592C>G (p.Thr531Arg) rs374698153 0.00008
NM_058246.4(DNAJB6):c.974A>C (p.Asn325Thr) rs375911119 0.00008
NM_080680.3(COL11A2):c.1378G>T (p.Gly460Trp) rs200635355 0.00008
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) rs369925690 0.00008
NM_182914.3(SYNE2):c.16912G>A (p.Glu5638Lys) rs751734028 0.00008
NM_182914.3(SYNE2):c.3830G>A (p.Arg1277His) rs367549881 0.00008
NM_182914.3(SYNE2):c.9404A>G (p.Lys3135Arg) rs376121197 0.00008
NM_201384.3(PLEC):c.11735G>A (p.Arg3912Gln) rs781960031 0.00008
NM_201384.3(PLEC):c.1506G>C (p.Gln502His) rs571497788 0.00008
NM_201384.3(PLEC):c.4855G>A (p.Glu1619Lys) rs782026068 0.00008
NM_201384.3(PLEC):c.5879G>A (p.Arg1960His) rs367679924 0.00008
NM_201384.3(PLEC):c.9116G>A (p.Ser3039Asn) rs374776968 0.00008
NM_201384.3(PLEC):c.9167C>A (p.Ala3056Asp) rs373831849 0.00008
NM_201384.3(PLEC):c.9749C>T (p.Thr3250Met) rs201349099 0.00008
NM_206926.2(SELENON):c.59C>T (p.Pro20Leu) rs1050852336 0.00008
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814 0.00008
NC_000001.11:g.114695547A>G rs377496676 0.00007
NM_000016.6(ACADM):c.250C>T (p.Leu84Phe) rs762114560 0.00007
NM_000032.5(ALAS2):c.886G>A (p.Gly296Arg) rs372076630 0.00007
NM_000036.3(AMPD1):c.577G>A (p.Asp193Asn) rs376789465 0.00007
NM_000046.5(ARSB):c.667A>G (p.Ile223Val) rs367650121 0.00007
NM_000048.4(ASL):c.1153C>T (p.Arg385Cys) rs28940286 0.00007
NM_000051.4(ATM):c.2021A>G (p.His674Arg) rs201762714 0.00007
NM_000069.3(CACNA1S):c.4679G>A (p.Arg1560Gln) rs372436488 0.00007
NM_000094.4(COL7A1):c.3785T>C (p.Met1262Thr) rs141787797 0.00007
NM_000122.2(ERCC3):c.1421dup (p.Asp474fs) rs587778281 0.00007
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457 0.00007
NM_000152.5(GAA):c.1048G>A (p.Val350Met) rs200412003 0.00007
NM_000152.5(GAA):c.1194+3G>C rs368539333 0.00007
NM_000152.5(GAA):c.1392G>C (p.Arg464Ser) rs372786811 0.00007
NM_000152.5(GAA):c.197G>A (p.Arg66Gln) rs200202628 0.00007
NM_000190.4(HMBS):c.532G>A (p.Asp178Asn) rs536814318 0.00007
NM_000219.6(KCNE1):c.29C>T (p.Thr10Met) rs144917638 0.00007
NM_000245.4(MET):c.3218C>T (p.Pro1073Leu) rs370529693 0.00007
NM_000257.4(MYH7):c.1322C>T (p.Thr441Met) rs121913653 0.00007
NM_000291.4(PGK1):c.846G>C (p.Leu282Phe) rs782668224 0.00007
NM_000335.5(SCN5A):c.5452G>A (p.Asp1818Asn) rs137854619 0.00007
NM_000342.4(SLC4A1):c.523C>A (p.Pro175Thr) rs201611359 0.00007
NM_000342.4(SLC4A1):c.82G>A (p.Glu28Lys) rs55637644 0.00007
NM_000346.4(SOX9):c.739C>A (p.Pro247Thr) rs566929141 0.00007
NM_000368.5(TSC1):c.1051A>G (p.Met351Val) rs781312535 0.00007
NM_000383.4(AIRE):c.652+1G>T rs199612115 0.00007
NM_000388.4(CASR):c.848T>C (p.Ile283Thr) rs142745096 0.00007
NM_000402.4(G6PD):c.185A>G (p.His62Arg) rs137852340 0.00007
NM_000465.4(BARD1):c.1973G>A (p.Arg658His) rs377227840 0.00007
NM_000481.4(AMT):c.281G>A (p.Arg94Gln) rs368129012 0.00007
NM_000486.6(AQP2):c.439G>A (p.Ala147Thr) rs104894334 0.00007
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile) rs151048781 0.00007
NM_000518.5(HBB):c.92+6T>C rs35724775 0.00007
NM_000518.5(HBB):c.93-38G>A rs370724350 0.00007
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val) rs146200173 0.00007
NM_000535.7(PMS2):c.2559C>G (p.Ile853Met) rs371673459 0.00007
NM_000540.3(RYR1):c.11412C>T (p.Leu3804=) rs376851030 0.00007
NM_000540.3(RYR1):c.14602G>A (p.Glu4868Lys) rs187569997 0.00007
NM_000540.3(RYR1):c.4113G>C (p.Arg1371Ser) rs551509462 0.00007
NM_000540.3(RYR1):c.4747C>T (p.Arg1583Cys) rs754476250 0.00007
NM_000540.3(RYR1):c.6670C>T (p.Arg2224Cys) rs199870223 0.00007
NM_000540.3(RYR1):c.8342T>C (p.Ile2781Thr) rs767805554 0.00007
NM_000709.4(BCKDHA):c.1252G>A (p.Ala418Thr) rs368567109 0.00007
NM_000834.5(GRIN2B):c.3047G>A (p.Arg1016Lys) rs141109968 0.00007
NM_001017420.3(ESCO2):c.1132-7A>G rs80359862 0.00007
NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu) rs202153130 0.00007
NM_001101426.4(CRPPA):c.551G>A (p.Arg184Gln) rs773739293 0.00007
NM_001103.4(ACTN2):c.331G>A (p.Gly111Arg) rs148628141 0.00007
NM_001105206.3(LAMA4):c.4171T>C (p.Tyr1391His) rs201094782 0.00007
NM_001111125.3(IQSEC2):c.2157C>G (p.Asp719Glu) rs142545002 0.00007
NM_001111125.3(IQSEC2):c.2816G>A (p.Arg939His) rs782727618 0.00007
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys) rs121908235 0.00007
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr) rs749909863 0.00007
NM_001142864.4(PIEZO1):c.1196-4G>C rs946453254 0.00007
NM_001142864.4(PIEZO1):c.1504C>T (p.Arg502Cys) rs750545429 0.00007
NM_001142864.4(PIEZO1):c.3578G>T (p.Cys1193Phe) rs576320358 0.00007
NM_001142864.4(PIEZO1):c.3632G>A (p.Arg1211His) rs766820906 0.00007
NM_001142864.4(PIEZO1):c.4067G>A (p.Arg1356His) rs780831903 0.00007
NM_001142864.4(PIEZO1):c.4776-15G>A rs370528699 0.00007
NM_001142864.4(PIEZO1):c.5099T>C (p.Met1700Thr) rs1046080253 0.00007
NM_001142864.4(PIEZO1):c.5744G>A (p.Arg1915His) rs755722952 0.00007
NM_001142864.4(PIEZO1):c.988C>T (p.Arg330Cys) rs546108970 0.00007
NM_001164508.2(NEB):c.20245C>A (p.Gln6749Lys) rs772854423 0.00007
NM_001267550.2(TTN):c.105260C>T (p.Thr35087Met) rs397517795 0.00007
NM_001267550.2(TTN):c.105383C>T (p.Ala35128Val) rs758458467 0.00007
NM_001267550.2(TTN):c.105653T>C (p.Ile35218Thr) rs143499441 0.00007
NM_001267550.2(TTN):c.106511G>C (p.Ser35504Thr) rs575070622 0.00007
NM_001267550.2(TTN):c.107105C>T (p.Pro35702Leu) rs772957495 0.00007
NM_001267550.2(TTN):c.14302G>A (p.Gly4768Ser) rs727503652 0.00007
NM_001267550.2(TTN):c.17821A>G (p.Ile5941Val) rs397517487 0.00007
NM_001267550.2(TTN):c.19995A>T (p.Glu6665Asp) rs146828735 0.00007
NM_001267550.2(TTN):c.21036G>T (p.Arg7012Ser) rs1024577519 0.00007
NM_001267550.2(TTN):c.2264C>T (p.Ser755Leu) rs533384820 0.00007
NM_001267550.2(TTN):c.2360T>C (p.Ile787Thr) rs143444636 0.00007
NM_001267550.2(TTN):c.25616G>T (p.Cys8539Phe) rs550882549 0.00007
NM_001267550.2(TTN):c.27193T>C (p.Cys9065Arg) rs201229221 0.00007
NM_001267550.2(TTN):c.27847G>A (p.Val9283Met) rs727504515 0.00007
NM_001267550.2(TTN):c.28098C>G (p.Ser9366Arg) rs374930292 0.00007
NM_001267550.2(TTN):c.29314G>A (p.Val9772Met) rs563073635 0.00007
NM_001267550.2(TTN):c.31505C>T (p.Ser10502Leu) rs768632287 0.00007
NM_001267550.2(TTN):c.40502G>A (p.Arg13501His) rs571348685 0.00007
NM_001267550.2(TTN):c.44423A>C (p.Lys14808Thr) rs374419129 0.00007
NM_001267550.2(TTN):c.44588C>T (p.Thr14863Met) rs759406486 0.00007
NM_001267550.2(TTN):c.48595T>C (p.Ser16199Pro) rs752629624 0.00007
NM_001267550.2(TTN):c.53444T>C (p.Ile17815Thr) rs374563054 0.00007
NM_001267550.2(TTN):c.53807G>A (p.Arg17936His) rs727503604 0.00007
NM_001267550.2(TTN):c.56533A>C (p.Thr18845Pro) rs375000725 0.00007
NM_001267550.2(TTN):c.60932G>A (p.Arg20311Gln) rs373062007 0.00007
NM_001267550.2(TTN):c.60976G>A (p.Ala20326Thr) rs370995867 0.00007
NM_001267550.2(TTN):c.63065G>A (p.Arg21022His) rs727503585 0.00007
NM_001267550.2(TTN):c.63877G>A (p.Asp21293Asn) rs199505416 0.00007
NM_001267550.2(TTN):c.65672C>T (p.Pro21891Leu) rs397517662 0.00007
NM_001267550.2(TTN):c.70163G>A (p.Arg23388Gln) rs55853138 0.00007
NM_001267550.2(TTN):c.71452A>G (p.Ile23818Val) rs776911847 0.00007
NM_001267550.2(TTN):c.72331G>C (p.Ala24111Pro) rs369671334 0.00007
NM_001267550.2(TTN):c.72824A>T (p.Lys24275Ile) rs199860952 0.00007
NM_001267550.2(TTN):c.75458C>T (p.Ser25153Leu) rs368058280 0.00007
NM_001267550.2(TTN):c.7891G>A (p.Val2631Ile) rs766753906 0.00007
NM_001267550.2(TTN):c.86024C>T (p.Pro28675Leu) rs766419568 0.00007
NM_001267550.2(TTN):c.93323T>C (p.Ile31108Thr) rs373732722 0.00007
NM_001267550.2(TTN):c.96883G>A (p.Val32295Met) rs199532781 0.00007
NM_001267550.2(TTN):c.98243G>A (p.Arg32748His) rs397517775 0.00007
NM_001267550.2(TTN):c.9884C>T (p.Thr3295Met) rs191708454 0.00007
NM_001303.4(COX10):c.1007A>T (p.Asp336Val) rs104894557 0.00007
NM_001365999.1(SZT2):c.7474C>T (p.Arg2492Trp) rs373062274 0.00007
NM_001368067.1(LDB3):c.415G>A (p.Glu139Lys) rs374613600 0.00007
NM_001378778.1(MPDZ):c.394G>A (p.Gly132Ser) rs201101621 0.00007
NM_001458.5(FLNC):c.1142G>A (p.Arg381His) rs776469396 0.00007
NM_001458.5(FLNC):c.1886G>A (p.Arg629Gln) rs765173966 0.00007
NM_001458.5(FLNC):c.3740C>T (p.Ala1247Val) rs775496136 0.00007
NM_001458.5(FLNC):c.3872G>A (p.Arg1291His) rs370042010 0.00007
NM_001458.5(FLNC):c.7256C>T (p.Thr2419Met) rs199768217 0.00007
NM_001845.6(COL4A1):c.4006G>A (p.Val1336Ile) rs202209298 0.00007
NM_001848.3(COL6A1):c.334G>A (p.Ala112Thr) rs568865339 0.00007
NM_001848.3(COL6A1):c.717+9C>T rs183868804 0.00007
NM_001849.4(COL6A2):c.1970-9G>A rs747900252 0.00007
NM_001876.4(CPT1A):c.1958T>C (p.Ile653Thr) rs569816517 0.00007
NM_001953.5(TYMP):c.433G>A (p.Gly145Arg) rs121913037 0.00007
NM_002437.5(MPV17):c.191C>G (p.Pro64Arg) rs375401970 0.00007
NM_002471.4(MYH6):c.1244G>C (p.Gly415Ala) rs759520932 0.00007
NM_002693.3(POLG):c.1898A>C (p.Lys633Thr) rs568913937 0.00007
NM_002693.3(POLG):c.2051A>G (p.Asn684Ser) rs202244328 0.00007
NM_003060.4(SLC22A5):c.761G>A (p.Arg254Gln) rs200699819 0.00007
NM_003126.4(SPTA1):c.2161G>A (p.Glu721Lys) rs561521001 0.00007
NM_003482.4(KMT2D):c.859A>G (p.Lys287Glu) rs375915416 0.00007
NM_003919.3(SGCE):c.1196C>T (p.Pro399Leu) rs17851923 0.00007
NM_004006.3(DMD):c.10249C>G (p.Pro3417Ala) rs373898385 0.00007
NM_004006.3(DMD):c.10846A>G (p.Thr3616Ala) rs368996545 0.00007
NM_004006.3(DMD):c.2988A>G (p.Leu996=) rs148835707 0.00007
NM_004006.3(DMD):c.3892G>A (p.Gly1298Arg) rs750349613 0.00007
NM_004006.3(DMD):c.5675G>A (p.Cys1892Tyr) rs137898199 0.00007
NM_004006.3(DMD):c.863G>C (p.Arg288Thr) rs767304770 0.00007
NM_004281.4(BAG3):c.892G>A (p.Val298Met) rs150048651 0.00007
NM_004415.4(DSP):c.7552G>A (p.Val2518Ile) rs757394666 0.00007
NM_004525.3(LRP2):c.3285C>T (p.Gly1095=) rs986671553 0.00007
NM_005050.4(ABCD4):c.1316C>T (p.Thr439Met) rs200761248 0.00007
NM_005476.7(GNE):c.737G>A (p.Arg246Gln) rs121908629 0.00007
NM_005529.7(HSPG2):c.769C>T (p.Arg257Trp) rs535956121 0.00007
NM_005529.7(HSPG2):c.9120C>T (p.Ser3040=) rs781013408 0.00007
NM_005573.4(LMNB1):c.814-3T>C rs372984423 0.00007
NM_005592.4(MUSK):c.2287G>A (p.Ala763Thr) rs199507468 0.00007
NM_005609.4(PYGM):c.1768+1G>A rs771427957 0.00007
NM_005609.4(PYGM):c.2182A>G (p.Asn728Asp) rs200058475 0.00007
NM_006059.4(LAMC3):c.3871C>T (p.Arg1291Ter) rs201793200 0.00007
NM_006516.4(SLC2A1):c.1016T>C (p.Ile339Thr) rs141619735 0.00007
NM_006876.3(B4GAT1):c.355C>A (p.Pro119Thr) rs201892419 0.00007
NM_006939.4(SOS2):c.2758A>G (p.Ile920Val) rs755783805 0.00007
NM_006939.4(SOS2):c.721G>A (p.Glu241Lys) rs148747022 0.00007
NM_007059.4(KPTN):c.394+1G>A rs373139784 0.00007
NM_014336.5(AIPL1):c.377T>A (p.Met126Lys) rs761622978 0.00007
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln) rs121918243 0.00007
NM_015909.4(NBAS):c.767G>A (p.Cys256Tyr) rs575240073 0.00007
NM_019023.5(PRMT7):c.1056-1G>T rs201824659 0.00007
NM_020166.5(MCCC1):c.1681+2dup rs774352286 0.00007
NM_020376.4(PNPLA2):c.326A>G (p.His109Arg) rs200683247 0.00007
NM_020549.5(CHAT):c.1345G>A (p.Val449Ile) rs757733319 0.00007
NM_021942.6(TRAPPC11):c.944A>G (p.His315Arg) rs533000838 0.00007
NM_022089.4(ATP13A2):c.3473G>A (p.Arg1158His) rs544885605 0.00007
NM_025137.4(SPG11):c.6944A>C (p.Asn2315Thr) rs200276333 0.00007
NM_032415.7(CARD11):c.1994C>T (p.Ser665Leu) rs147823569 0.00007
NM_032578.4(MYPN):c.140C>T (p.Pro47Leu) rs777446804 0.00007
NM_032578.4(MYPN):c.3103A>G (p.Met1035Val) rs201975081 0.00007
NM_033337.3(CAV3):c.244G>A (p.Val82Ile) rs112626848 0.00007
NM_054012.4(ASS1):c.535T>C (p.Trp179Arg) rs121908646 0.00007
NM_138413.4(HOGA1):c.569C>T (p.Pro190Leu) rs202047589 0.00007
NM_152564.5(VPS13B):c.11144G>A (p.Arg3715Gln) rs141566041 0.00007
NM_152722.5(HEPACAM):c.115C>T (p.Pro39Ser) rs545531081 0.00007
NM_172250.3(MMAA):c.1003A>T (p.Ile335Phe) rs199749473 0.00007
NM_173689.7(CRB2):c.2116C>T (p.Arg706Trp) rs575676072 0.00007
NM_174936.4(PCSK9):c.94G>A (p.Glu32Lys) rs564427867 0.00007
NM_182760.4(SUMF1):c.463T>C (p.Ser155Pro) rs137852850 0.00007
NM_182914.3(SYNE2):c.14486G>A (p.Cys4829Tyr) rs200997641 0.00007
NM_182914.3(SYNE2):c.19975C>T (p.Arg6659Cys) rs35763782 0.00007
NM_182914.3(SYNE2):c.3664C>T (p.Arg1222Trp) rs773994020 0.00007
NM_182961.4(SYNE1):c.20200-3T>C rs770710698 0.00007
NM_182961.4(SYNE1):c.25786A>G (p.Met8596Val) rs746864807 0.00007
NM_182961.4(SYNE1):c.2630A>G (p.Gln877Arg) rs369192821 0.00007
NM_182961.4(SYNE1):c.3500T>C (p.Val1167Ala) rs555800735 0.00007
NM_198994.3(TGM6):c.1528G>C (p.Asp510His) rs201964784 0.00007
NM_201384.3(PLEC):c.1123G>A (p.Val375Met) rs199866423 0.00007
NM_201384.3(PLEC):c.13581C>T (p.Tyr4527=) rs562934299 0.00007
NM_201384.3(PLEC):c.5507C>T (p.Ala1836Val) rs782216341 0.00007
NM_201384.3(PLEC):c.6222C>T (p.Ser2074=) rs370347438 0.00007
NM_201384.3(PLEC):c.9896G>A (p.Arg3299Gln) rs368318946 0.00007
NM_213599.3(ANO5):c.41-1G>A rs398124625 0.00007
NC_000021.9:g.45405398C>T rs754075778 0.00006
NM_000016.6(ACADM):c.1247T>C (p.Ile416Thr) rs760892123 0.00006
NM_000017.4(ACADS):c.417G>C (p.Trp139Cys) rs149107232 0.00006
NM_000023.4(SGCA):c.62C>T (p.Thr21Ile) rs199804735 0.00006
NM_000030.3(AGXT):c.167T>A (p.Ile56Asn) rs180177180 0.00006
NM_000032.5(ALAS2):c.577G>A (p.Val193Ile) rs772482624 0.00006
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) rs28904921 0.00006
NM_000051.4(ATM):c.8921C>T (p.Pro2974Leu) rs139379666 0.00006
NM_000059.4(BRCA2):c.9454G>A (p.Glu3152Lys) rs80359218 0.00006
NM_000069.3(CACNA1S):c.2468G>A (p.Arg823Gln) rs553619980 0.00006
NM_000069.3(CACNA1S):c.2630C>T (p.Ala877Val) rs200646947 0.00006
NM_000069.3(CACNA1S):c.3256C>T (p.Arg1086Cys) rs80338782 0.00006
NM_000070.3(CAPN3):c.1020G>T (p.Gly340=) rs372401631 0.00006
NM_000070.3(CAPN3):c.1435A>G (p.Ser479Gly) rs201736037 0.00006
NM_000079.4(CHRNA1):c.280G>T (p.Gly94Cys) rs199470444 0.00006
NM_000081.4(LYST):c.4983G>A (p.Leu1661=) rs1482156206 0.00006
NM_000088.4(COL1A1):c.4005+5G>A rs778417218 0.00006
NM_000090.4(COL3A1):c.1165A>T (p.Asn389Tyr) rs200394946 0.00006
NM_000094.4(COL7A1):c.6501G>A (p.Pro2167=) rs767539005 0.00006
NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys) rs121918528 0.00006
NM_000101.4(CYBA):c.268C>T (p.Arg90Trp) rs179363892 0.00006
NM_000110.4(DPYD):c.2579del (p.Gln860fs) rs746991079 0.00006
NM_000135.4(FANCA):c.4244T>G (p.Phe1415Cys) rs201658945 0.00006
NM_000137.4(FAH):c.1009G>A (p.Gly337Ser) rs80338900 0.00006
NM_000137.4(FAH):c.782C>T (p.Pro261Leu) rs80338898 0.00006
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu) rs147327209 0.00006
NM_000152.5(GAA):c.510C>T (p.Asp170=) rs564758226 0.00006
NM_000152.5(GAA):c.953T>C (p.Met318Thr) rs121907936 0.00006
NM_000157.4(GBA1):c.1604G>A (p.Arg535His) rs75822236 0.00006
NM_000159.4(GCDH):c.1168G>C (p.Gly390Arg) rs372983141 0.00006
NM_000179.3(MSH6):c.1814C>G (p.Thr605Ser) rs587781616 0.00006
NM_000179.3(MSH6):c.831A>C (p.Glu277Asp) rs374486449 0.00006
NM_000187.4(HGD):c.808G>A (p.Gly270Arg) rs120074174 0.00006
NM_000218.3(KCNQ1):c.225T>C (p.Val75=) rs367817352 0.00006
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445 0.00006
NM_000237.3(LPL):c.292G>A (p.Ala98Thr) rs145657341 0.00006
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374 0.00006
NM_000257.4(MYH7):c.115G>A (p.Val39Met) rs376160714 0.00006
NM_000257.4(MYH7):c.3814G>A (p.Asp1272Asn) rs730880906 0.00006
NM_000270.4(PNP):c.701G>C (p.Arg234Pro) rs104894451 0.00006
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg) rs80358254 0.00006
NM_000277.3(PAH):c.355C>T (p.Pro119Ser) rs398123292 0.00006
NM_000282.4(PCCA):c.229C>T (p.Arg77Trp) rs141371306 0.00006
NM_000289.6(PFKM):c.237+1G>A rs202143236 0.00006
NM_000303.3(PMM2):c.430T>C (p.Phe144Leu) rs150719105 0.00006
NM_000310.4(PPT1):c.541G>A (p.Val181Met) rs148412181 0.00006
NM_000318.3(PEX2):c.892G>A (p.Glu298Lys) rs544763390 0.00006
NM_000324.3(RHAG):c.187G>C (p.Val63Leu) rs778934246 0.00006
NM_000334.4(SCN4A):c.364C>T (p.Arg122Cys) rs150158100 0.00006
NM_000334.4(SCN4A):c.4916G>A (p.Arg1639His) rs368186423 0.00006
NM_000335.5(SCN5A):c.2497G>A (p.Gly833Arg) rs45475899 0.00006
NM_000335.5(SCN5A):c.52C>T (p.Arg18Trp) rs199473044 0.00006
NM_000350.3(ABCA4):c.3663G>A (p.Leu1221=) rs202109945 0.00006
NM_000350.3(ABCA4):c.768G>T (p.Val256=) rs62645944 0.00006
NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln) rs185040406 0.00006
NM_000360.4(TH):c.1402G>A (p.Val468Met) rs1800033 0.00006
NM_000398.7(CYB5R3):c.757G>A (p.Val253Met) rs144071404 0.00006
NM_000435.3(NOTCH3):c.359C>T (p.Pro120Leu) rs778715118 0.00006
NM_000443.4(ABCB4):c.140G>A (p.Arg47Gln) rs372685632 0.00006
NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser) rs121918014 0.00006
NM_000487.6(ARSA):c.1010A>T (p.Asp337Val) rs74315475 0.00006
NM_000492.4(CFTR):c.1646G>A (p.Ser549Asn) rs121908755 0.00006
NM_000492.4(CFTR):c.254G>A (p.Gly85Glu) rs75961395 0.00006
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys) rs118204437 0.00006
NM_000520.6(HEXA):c.806-7G>A rs770932296 0.00006
NM_000527.5(LDLR):c.1837G>A (p.Val613Ile) rs148181903 0.00006
NM_000527.5(LDLR):c.2098G>A (p.Asp700Asn) rs375009082 0.00006
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro) rs80338681 0.00006
NM_000540.3(RYR1):c.10274C>T (p.Thr3425Met) rs150977342 0.00006
NM_000540.3(RYR1):c.152C>A (p.Thr51Asn) rs193922749 0.00006
NM_000540.3(RYR1):c.2356G>A (p.Val786Ile) rs369281291 0.00006
NM_000540.3(RYR1):c.2603G>A (p.Arg868His) rs750938678 0.00006
NM_000540.3(RYR1):c.2956C>T (p.Arg986Cys) rs150993059 0.00006
NM_000540.3(RYR1):c.4038C>A (p.Asn1346Lys) rs777049924 0.00006
NM_000540.3(RYR1):c.6302T>A (p.Met2101Lys) rs746818096 0.00006
NM_000540.3(RYR1):c.9758T>C (p.Ile3253Thr) rs375626634 0.00006
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter) rs267606640 0.00006
NM_000642.3(AGL):c.4189G>A (p.Ala1397Thr) rs375755924 0.00006
NM_000642.3(AGL):c.4260-12A>G rs369973784 0.00006
NM_001005361.3(DNM2):c.2201A>G (p.Asn734Ser) rs577767034 0.00006
NM_001010867.4(IBA57):c.679+3A>G rs754620334 0.00006
NM_001040716.2(PC):c.2285G>A (p.Arg762His) rs574858955 0.00006
NM_001077365.2(POMT1):c.197C>T (p.Pro66Leu) rs757903559 0.00006
NM_001077365.2(POMT1):c.579_580del (p.Val195fs) rs1032439203 0.00006
NM_001079802.2(FKTN):c.869A>T (p.Lys290Ile) rs755092516 0.00006
NM_001079802.2(FKTN):c.929A>G (p.Asn310Ser) rs776639304 0.00006
NM_001080512.3(BICC1):c.706A>C (p.Asn236His) rs147466451 0.00006
NM_001103.4(ACTN2):c.947T>C (p.Met316Thr) rs370757762 0.00006
NM_001122630.2(CDKN1C):c.597C>G (p.Pro199=) rs767656648 0.00006
NM_001126108.2(SLC12A3):c.1145C>T (p.Thr382Met) rs187885782 0.00006
NM_001126108.2(SLC12A3):c.2793C>T (p.Asn931=) rs13306666 0.00006
NM_001127222.2(CACNA1A):c.6001C>T (p.Pro2001Ser) rs751947412 0.00006
NM_001127222.2(CACNA1A):c.6203G>A (p.Arg2068Gln) rs769040794 0.00006
NM_001130438.3(SPTAN1):c.2888C>T (p.Thr963Met) rs375623472 0.00006
NM_001130438.3(SPTAN1):c.5648A>G (p.Asn1883Ser) rs200248814 0.00006
NM_001130438.3(SPTAN1):c.5881G>A (p.Gly1961Arg) rs142498180 0.00006
NM_001134363.3(RBM20):c.3268A>T (p.Ile1090Phe) rs371828469 0.00006
NM_001134407.3(GRIN2A):c.623C>T (p.Thr208Ile) rs367543124 0.00006
NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter) rs137853190 0.00006
NM_001142864.4(PIEZO1):c.3376C>T (p.Arg1126Cys) rs753243797 0.00006
NM_001142864.4(PIEZO1):c.6835C>T (p.Arg2279Cys) rs544281438 0.00006
NM_001164507.2(NEB):c.21341G>A (p.Arg7114Gln) rs372284984 0.00006
NM_001164508.2(NEB):c.14759A>T (p.Asn4920Ile) rs753968560 0.00006
NM_001164508.2(NEB):c.24171G>T (p.Met8057Ile) rs758996758 0.00006
NM_001164508.2(NEB):c.25260G>A (p.Ser8420=) rs1390774664 0.00006
NM_001164508.2(NEB):c.5301G>A (p.Pro1767=) rs150496369 0.00006
NM_001164508.2(NEB):c.8063A>G (p.His2688Arg) rs201119402 0.00006
NM_001164508.2(NEB):c.8350G>A (p.Ala2784Thr) rs142326967 0.00006
NM_001267550.2(TTN):c.102398T>C (p.Ile34133Thr) rs764179161 0.00006
NM_001267550.2(TTN):c.103636C>T (p.Arg34546Cys) rs777626473 0.00006
NM_001267550.2(TTN):c.103909C>T (p.Arg34637Trp) rs200716930 0.00006
NM_001267550.2(TTN):c.104125C>T (p.Arg34709Cys) rs530959653 0.00006
NM_001267550.2(TTN):c.104261C>T (p.Ala34754Val) rs727505020 0.00006
NM_001267550.2(TTN):c.106468T>C (p.Tyr35490His) rs199663911 0.00006
NM_001267550.2(TTN):c.107080C>G (p.Leu35694Val) rs769369764 0.00006
NM_001267550.2(TTN):c.17302G>A (p.Asp5768Asn) rs576904726 0.00006
NM_001267550.2(TTN):c.17686G>A (p.Glu5896Lys) rs561557554 0.00006
NM_001267550.2(TTN):c.17893T>C (p.Tyr5965His) rs752226947 0.00006
NM_001267550.2(TTN):c.18893T>C (p.Ile6298Thr) rs375571785 0.00006
NM_001267550.2(TTN):c.19190C>T (p.Thr6397Met) rs199564845 0.00006
NM_001267550.2(TTN):c.20924C>T (p.Pro6975Leu) rs374493881 0.00006
NM_001267550.2(TTN):c.21521C>T (p.Ala7174Val) rs764832849 0.00006
NM_001267550.2(TTN):c.22576G>T (p.Val7526Phe) rs754972548 0.00006
NM_001267550.2(TTN):c.23068G>A (p.Ala7690Thr) rs763029699 0.00006
NM_001267550.2(TTN):c.25853G>A (p.Gly8618Glu) rs369947439 0.00006
NM_001267550.2(TTN):c.25942A>G (p.Lys8648Glu) rs188234466 0.00006
NM_001267550.2(TTN):c.26056G>A (p.Gly8686Ser) rs370578197 0.00006
NM_001267550.2(TTN):c.27652G>T (p.Val9218Phe) rs746558975 0.00006
NM_001267550.2(TTN):c.27709T>G (p.Ser9237Ala) rs766638714 0.00006
NM_001267550.2(TTN):c.29960T>A (p.Ile9987Asn) rs376644553 0.00006
NM_001267550.2(TTN):c.4081A>C (p.Ile1361Leu) rs145308734 0.00006
NM_001267550.2(TTN):c.4247G>A (p.Arg1416His) rs750278602 0.00006
NM_001267550.2(TTN):c.42509T>C (p.Met14170Thr) rs369623392 0.00006
NM_001267550.2(TTN):c.43986T>G (p.Asp14662Glu) rs201390600 0.00006
NM_001267550.2(TTN):c.44456C>T (p.Thr14819Ile) rs778014249 0.00006
NM_001267550.2(TTN):c.44492G>A (p.Gly14831Glu) rs751929345 0.00006
NM_001267550.2(TTN):c.44848G>A (p.Asp14950Asn) rs571524382 0.00006
NM_001267550.2(TTN):c.44978G>A (p.Gly14993Glu) rs200931793 0.00006
NM_001267550.2(TTN):c.45212T>C (p.Ile15071Thr) rs184078045 0.00006
NM_001267550.2(TTN):c.4709G>C (p.Gly1570Ala) rs199910114 0.00006
NM_001267550.2(TTN):c.49367G>A (p.Arg16456His) rs768914789 0.00006
NM_001267550.2(TTN):c.49406T>A (p.Leu16469His) rs72677245 0.00006
NM_001267550.2(TTN):c.5073A>T (p.Glu1691Asp) rs770902874 0.00006
NM_001267550.2(TTN):c.51704G>A (p.Arg17235Gln) rs573695008 0.00006
NM_001267550.2(TTN):c.52139A>T (p.Asp17380Val) rs373305248 0.00006
NM_001267550.2(TTN):c.53295T>C (p.Pro17765=) rs771792080 0.00006
NM_001267550.2(TTN):c.55037G>T (p.Arg18346Ile) rs573136400 0.00006
NM_001267550.2(TTN):c.55784C>G (p.Thr18595Arg) rs770499179 0.00006
NM_001267550.2(TTN):c.56911G>A (p.Val18971Met) rs373153121 0.00006
NM_001267550.2(TTN):c.57586C>G (p.Leu19196Val) rs397517630 0.00006
NM_001267550.2(TTN):c.58017G>C (p.Leu19339Phe) rs368025965 0.00006
NM_001267550.2(TTN):c.60025A>G (p.Ile20009Val) rs371988490 0.00006
NM_001267550.2(TTN):c.61099C>T (p.Arg20367Trp) rs727504479 0.00006
NM_001267550.2(TTN):c.61592G>A (p.Arg20531His) rs370887455 0.00006
NM_001267550.2(TTN):c.61696G>A (p.Val20566Ile) rs764777213 0.00006
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter) rs72646846 0.00006
NM_001267550.2(TTN):c.63132T>C (p.Ile21044=) rs561183059 0.00006
NM_001267550.2(TTN):c.63581T>C (p.Leu21194Pro) rs367838375 0.00006
NM_001267550.2(TTN):c.65389T>G (p.Cys21797Gly) rs375830234 0.00006
NM_001267550.2(TTN):c.6639G>T (p.Glu2213Asp) rs745719077 0.00006
NM_001267550.2(TTN):c.67014C>A (p.Asn22338Lys) rs761241302 0.00006
NM_001267550.2(TTN):c.6713C>T (p.Thr2238Met) rs201284459 0.00006
NM_001267550.2(TTN):c.68981C>T (p.Thr22994Ile) rs183056142 0.00006
NM_001267550.2(TTN):c.69251G>A (p.Arg23084Gln) rs200191748 0.00006
NM_001267550.2(TTN):c.6950G>A (p.Arg2317His) rs764882950 0.00006
NM_001267550.2(TTN):c.6971C>T (p.Thr2324Met) rs760633130 0.00006
NM_001267550.2(TTN):c.70172T>C (p.Ile23391Thr) rs375202101 0.00006
NM_001267550.2(TTN):c.7023C>T (p.Asp2341=) rs761409144 0.00006
NM_001267550.2(TTN):c.71149G>T (p.Asp23717Tyr) rs371818894 0.00006
NM_001267550.2(TTN):c.72992G>A (p.Arg24331His) rs755174224 0.00006
NM_001267550.2(TTN):c.73847G>A (p.Arg24616Gln) rs201694149 0.00006
NM_001267550.2(TTN):c.75099C>T (p.Asp25033=) rs370272814 0.00006
NM_001267550.2(TTN):c.76566_76568dup (p.Arg25523dup) rs772268958 0.00006
NM_001267550.2(TTN):c.7758A>G (p.Ile2586Met) rs556000493 0.00006
NM_001267550.2(TTN):c.7817C>T (p.Ala2606Val) rs370857722 0.00006
NM_001267550.2(TTN):c.79780C>A (p.Leu26594Ile) rs759737599 0.00006
NM_001267550.2(TTN):c.80462C>T (p.Pro26821Leu) rs200489046 0.00006
NM_001267550.2(TTN):c.83600C>G (p.Pro27867Arg) rs374119634 0.00006
NM_001267550.2(TTN):c.84652G>A (p.Gly28218Ser) rs727504693 0.00006
NM_001267550.2(TTN):c.85115G>A (p.Gly28372Glu) rs190721759 0.00006
NM_001267550.2(TTN):c.85316G>A (p.Arg28439Gln) rs764437671 0.00006
NM_001267550.2(TTN):c.87758G>A (p.Ser29253Asn) rs757300589 0.00006
NM_001267550.2(TTN):c.919G>A (p.Val307Met) rs371056974 0.00006
NM_001267550.2(TTN):c.92590G>A (p.Asp30864Asn) rs200621611 0.00006
NM_001267550.2(TTN):c.93131G>T (p.Gly31044Val) rs570464905 0.00006
NM_001267550.2(TTN):c.93442T>C (p.Tyr31148His) rs373131310 0.00006
NM_001267550.2(TTN):c.95843T>C (p.Met31948Thr) rs377603482 0.00006
NM_001267550.2(TTN):c.96637G>A (p.Asp32213Asn) rs764561909 0.00006
NM_001267550.2(TTN):c.9674A>G (p.Asn3225Ser) rs202011992 0.00006
NM_001267550.2(TTN):c.97331G>C (p.Arg32444Pro) rs184922462 0.00006
NM_001267550.2(TTN):c.97579G>A (p.Gly32527Ser) rs762160311 0.00006
NM_001267550.2(TTN):c.97643G>A (p.Arg32548His) rs55676195 0.00006
NM_001267550.2(TTN):c.99922G>A (p.Ala33308Thr) rs201226974 0.00006
NM_001271.4(CHD2):c.4984C>T (p.His1662Tyr) rs146275216 0.00006
NM_001277115.2(DNAH11):c.3470T>G (p.Leu1157Arg) rs117830543 0.00006
NM_001330260.2(SCN8A):c.-67C>T rs374729451 0.00006
NM_001330260.2(SCN8A):c.5879G>A (p.Arg1960Gln) rs369346315 0.00006
NM_001355436.2(SPTB):c.6236G>A (p.Arg2079His) rs200787781 0.00006
NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala) rs200334114 0.00006
NM_001363711.2(DUOX2):c.2524C>T (p.Arg842Ter) rs119472028 0.00006
NM_001363711.2(DUOX2):c.505C>T (p.Arg169Trp) rs201590426 0.00006
NM_001365536.1(SCN9A):c.2461G>A (p.Val821Met) rs41268671 0.00006
NM_001370658.1(BTD):c.566G>A (p.Arg189His) rs398123139 0.00006
NM_001378457.1(DMXL2):c.7393-15T>C rs746954557 0.00006
NM_001379081.2(FREM1):c.4879G>T (p.Ala1627Ser) rs370198850 0.00006
NM_001379500.1(COL18A1):c.156G>A (p.Pro52=) rs373105258 0.00006
NM_001395413.1(POR):c.1816C>T (p.Gln606Ter) rs782261248 0.00006
NM_001429.4(EP300):c.5957C>T (p.Pro1986Leu) rs144626200 0.00006
NM_001453.3(FOXC1):c.1337_1342dup (p.Gly447_Gly448insAspGly) rs756037576 0.00006
NM_001458.5(FLNC):c.4991C>T (p.Thr1664Met) rs780829334 0.00006
NM_001458.5(FLNC):c.5944C>T (p.Arg1982Cys) rs538779271 0.00006
NM_001458.5(FLNC):c.7090C>T (p.Arg2364Cys) rs374973240 0.00006
NM_001693.4(ATP6V1B2):c.1140C>G (p.Asp380Glu) rs141260471 0.00006
NM_001848.3(COL6A1):c.717+4A>G rs762867111 0.00006
NM_001849.4(COL6A2):c.188C>T (p.Thr63Met) rs201094892 0.00006
NM_001849.4(COL6A2):c.2707G>A (p.Glu903Lys) rs373611722 0.00006
NM_001849.4(COL6A2):c.356T>C (p.Ile119Thr) rs374011338 0.00006
NM_002103.5(GYS1):c.678+1G>A rs755305465 0.00006
NM_002180.3(IGHMBP2):c.2674A>G (p.Lys892Glu) rs201970407 0.00006
NM_002230.4(JUP):c.568G>A (p.Val190Met) rs370143312 0.00006
NM_002427.4(MMP13):c.619T>G (p.Trp207Gly) rs140059558 0.00006
NM_002471.4(MYH6):c.4991G>A (p.Arg1664His) rs778287981 0.00006
NM_002473.6(MYH9):c.4050G>C (p.Glu1350Asp) rs375955867 0.00006
NM_003042.4(SLC6A1):c.830G>A (p.Arg277His) rs752396911 0.00006
NM_003060.4(SLC22A5):c.1193C>T (p.Pro398Leu) rs144547521 0.00006
NM_003060.4(SLC22A5):c.248G>T (p.Arg83Leu) rs72552726 0.00006
NM_003126.4(SPTA1):c.779T>C (p.Leu260Pro) rs121918634 0.00006
NM_003334.4(UBA1):c.502C>T (p.Pro168Ser) rs782177423 0.00006
NM_003359.4(UGDH):c.950G>A (p.Arg317Gln) rs775162839 0.00006
NM_003482.4(KMT2D):c.10523G>A (p.Arg3508Gln) rs772010347 0.00006
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro) rs370644567 0.00006
NM_004006.3(DMD):c.4862T>C (p.Ile1621Thr) rs377412251 0.00006
NM_004006.3(DMD):c.5599C>G (p.Gln1867Glu) rs144718274 0.00006
NM_004134.7(HSPA9):c.882_883del (p.Gly295_Val296insTer) rs772570880 0.00006
NM_004281.4(BAG3):c.167C>G (p.Ser56Cys) rs777100532 0.00006
NM_004360.5(CDH1):c.1298A>G (p.Asp433Gly) rs376097289 0.00006
NM_004369.4(COL6A3):c.2306C>T (p.Ala769Val) rs753966526 0.00006
NM_004369.4(COL6A3):c.6930+4C>T rs375657891 0.00006
NM_004415.4(DSP):c.4175G>A (p.Arg1392Gln) rs201736018 0.00006
NM_004667.6(HERC2):c.13566G>A (p.Pro4522=) rs574228980 0.00006
NM_004959.5(NR5A1):c.712G>A (p.Asp238Asn) rs780568525 0.00006
NM_005055.5(RAPSN):c.133G>A (p.Val45Met) rs121909254 0.00006
NM_005188.4(CBL):c.1753C>T (p.Arg585Cys) rs187952822 0.00006
NM_005529.7(HSPG2):c.11770+10G>A rs746954804 0.00006
NM_005529.7(HSPG2):c.8776C>A (p.Pro2926Thr) rs370487132 0.00006
NM_006121.4(KRT1):c.78C>T (p.Asn26=) rs184313837 0.00006
NM_006270.5(RRAS):c.229G>A (p.Ala77Thr) rs200611081 0.00006
NM_006623.4(PHGDH):c.1468G>A (p.Val490Met) rs121907987 0.00006
NM_006642.5(SDCCAG8):c.740+356C>T rs397515337 0.00006
NM_006907.4(PYCR1):c.769G>A (p.Ala257Thr) rs281875318 0.00006
NM_006939.4(SOS2):c.674G>A (p.Arg225Gln) rs780580623 0.00006
NM_007078.3(LDB3):c.793C>T (p.Arg265Cys) rs45521338 0.00006
NM_007194.4(CHEK2):c.541C>T (p.Arg181Cys) rs137853010 0.00006
NM_012203.2(GRHPR):c.734+1G>A rs148049120 0.00006
NM_012434.5(SLC17A5):c.533del (p.Thr178fs) rs727504156 0.00006
NM_014043.4(CHMP2B):c.56G>A (p.Arg19Gln) rs200322526 0.00006
NM_014140.4(SMARCAL1):c.836T>C (p.Phe279Ser) rs775057827 0.00006
NM_014804.3(KIAA0753):c.810C>T (p.Tyr270=) rs752659088 0.00006
NM_014989.7(RIMS1):c.2459G>A (p.Arg820His) rs121918302 0.00006
NM_015295.3(SMCHD1):c.4108C>T (p.Arg1370Cys) rs942559171 0.00006
NM_015340.4(LARS2):c.763G>A (p.Ala255Thr) rs201911936 0.00006
NM_015488.5(PNKD):c.331A>G (p.Thr111Ala) rs202190131 0.00006
NM_015559.3(SETBP1):c.3834G>C (p.Leu1278=) rs560028623 0.00006
NM_015909.4(NBAS):c.1903A>T (p.Ile635Phe) rs201269329 0.00006
NM_016111.4(TELO2):c.392G>A (p.Gly131Asp) rs187225056 0.00006
NM_016239.4(MYO15A):c.4198G>A (p.Val1400Met) rs749136456 0.00006
NM_016373.4(WWOX):c.421G>A (p.Ala141Thr) rs369907002 0.00006
NM_017780.4(CHD7):c.1424T>C (p.Met475Thr) rs749781761 0.00006
NM_018100.4(EFHC1):c.1856T>G (p.Ile619Ser) rs142458862 0.00006
NM_020320.5(RARS2):c.35A>G (p.Gln12Arg) rs147391618 0.00006
NM_020433.5(JPH2):c.1375G>A (p.Ala459Thr) rs567872241 0.00006
NM_020987.5(ANK3):c.12294C>T (p.Ala4098=) rs138073935 0.00006
NM_021008.4(DEAF1):c.1318G>A (p.Ala440Thr) rs149746031 0.00006
NM_021100.5(NFS1):c.215G>A (p.Arg72Gln) rs200592030 0.00006
NM_021625.5(TRPV4):c.1139C>T (p.Thr380Met) rs764949536 0.00006
NM_021956.5(GRIK2):c.1285T>A (p.Ser429Thr) rs767297777 0.00006
NM_022114.4(PRDM16):c.3199G>A (p.Glu1067Lys) rs200946004 0.00006
NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln) rs201434373 0.00006
NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg) rs137852988 0.00006
NM_022437.3(ABCG8):c.788G>A (p.Arg263Gln) rs137852990 0.00006
NM_022464.5(SIL1):c.1030-9G>A rs370290043 0.00006
NM_024063.3(AFG2B):c.606_619dup (p.Glu207fs) rs765912979 0.00006
NM_024757.5(EHMT1):c.1433G>A (p.Gly478Glu) rs376787713 0.00006
NM_024996.7(GFM1):c.2011C>T (p.Arg671Cys) rs201408725 0.00006
NM_031372.4(HNRNPDL):c.1097G>C (p.Gly366Ala) rs200123403 0.00006
NM_032119.4(ADGRV1):c.5387C>G (p.Ser1796Cys) rs770897158 0.00006
NM_033409.4(SLC52A3):c.62A>G (p.Asn21Ser) rs199588390 0.00006
NM_033419.5(PGAP3):c.827C>T (p.Pro276Leu) rs750093817 0.00006
NM_138413.4(HOGA1):c.834G>A (p.Ala278=) rs770050262 0.00006
NM_138413.4(HOGA1):c.908G>A (p.Arg303His) rs761150081 0.00006
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019 0.00006
NM_152564.5(VPS13B):c.6727G>T (p.Glu2243Ter) rs146960401 0.00006
NM_152906.7(TANGO2):c.94C>T (p.Arg32Ter) rs199801224 0.00006
NM_153006.3(NAGS):c.1552G>A (p.Ala518Thr) rs745511282 0.00006
NM_153704.6(TMEM67):c.579_580del (p.Gly195fs) rs386834202 0.00006
NM_153704.6(TMEM67):c.755T>C (p.Met252Thr) rs202149403 0.00006
NM_170606.3(KMT2C):c.1700A>G (p.Asn567Ser) rs12674022 0.00006
NM_170707.4(LMNA):c.1004G>A (p.Arg335Gln) rs138592977 0.00006
NM_170707.4(LMNA):c.937-7C>G rs267607681 0.00006
NM_170784.3(MKKS):c.121G>C (p.Gly41Arg) rs766132697 0.00006
NM_181712.5(KANK4):c.2095del (p.Cys699fs) rs775562315 0.00006
NM_181882.3(PRX):c.2145T>A (p.Cys715Ter) rs104894707 0.00006
NM_181882.3(PRX):c.727G>A (p.Gly243Arg) rs774726424 0.00006
NM_182914.3(SYNE2):c.10495A>C (p.Lys3499Gln) rs752900825 0.00006
NM_182914.3(SYNE2):c.12614C>T (p.Thr4205Ile) rs376207235 0.00006
NM_182914.3(SYNE2):c.5893A>G (p.Lys1965Glu) rs80046702 0.00006
NM_182961.4(SYNE1):c.10149A>G (p.Gln3383=) rs369227827 0.00006
NM_182961.4(SYNE1):c.12355G>A (p.Glu4119Lys) rs148935596 0.00006
NM_182961.4(SYNE1):c.12667C>T (p.Arg4223Cys) rs145738035 0.00006
NM_182961.4(SYNE1):c.20027G>A (p.Arg6676Gln) rs190673256 0.00006
NM_182961.4(SYNE1):c.3436C>G (p.Gln1146Glu) rs760256766 0.00006
NM_198253.3(TERT):c.-57A>C rs878855297 0.00006
NM_199242.3(UNC13D):c.1014C>T (p.His338=) rs375097777 0.00006
NM_201384.3(PLEC):c.10025C>T (p.Ser3342Leu) rs538702691 0.00006
NM_201384.3(PLEC):c.10178C>T (p.Ala3393Val) rs370079447 0.00006
NM_201384.3(PLEC):c.10925A>G (p.Tyr3642Cys) rs782531580 0.00006
NM_201384.3(PLEC):c.11602G>A (p.Asp3868Asn) rs782028739 0.00006
NM_201384.3(PLEC):c.13529G>T (p.Gly4510Val) rs782174299 0.00006
NM_201384.3(PLEC):c.2643G>A (p.Thr881=) rs369973592 0.00006
NM_201384.3(PLEC):c.4839G>A (p.Arg1613=) rs554561043 0.00006
NM_201384.3(PLEC):c.5331G>C (p.Glu1777Asp) rs774270631 0.00006
NM_201384.3(PLEC):c.6469C>G (p.Leu2157Val) rs558775133 0.00006
NM_201384.3(PLEC):c.7441C>G (p.Gln2481Glu) rs782016209 0.00006
NM_201384.3(PLEC):c.9295G>A (p.Glu3099Lys) rs782532815 0.00006
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His) rs527236139 0.00006
NM_000017.4(ACADS):c.1095G>T (p.Gln365His) rs368469075 0.00005
NM_000017.4(ACADS):c.575C>T (p.Ala192Val) rs28940874 0.00005
NM_000018.4(ACADVL):c.779C>T (p.Thr260Met) rs113994168 0.00005
NM_000022.4(ADA):c.872C>T (p.Ser291Leu) rs121908721 0.00005
NM_000023.4(SGCA):c.614C>A (p.Pro205His) rs757481230 0.00005
NM_000031.6(ALAD):c.397G>A (p.Gly133Arg) rs121912980 0.00005
NM_000037.4(ANK1):c.4105-5T>G rs768183148 0.00005
NM_000046.5(ARSB):c.1450A>G (p.Arg484Gly) rs201101343 0.00005
NM_000051.4(ATM):c.4910A>G (p.Asp1637Gly) rs763457172 0.00005
NM_000051.4(ATM):c.7913G>A (p.Trp2638Ter) rs377349459 0.00005
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00005
NM_000053.4(ATP7B):c.1285+5G>T rs370579582 0.00005
NM_000053.4(ATP7B):c.2128G>A (p.Gly710Ser) rs137853285 0.00005
NM_000053.4(ATP7B):c.2906G>A (p.Arg969Gln) rs121907996 0.00005
NM_000057.4(BLM):c.3558+1G>T rs148969222 0.00005
NM_000059.4(BRCA2):c.8092G>A (p.Ala2698Thr) rs80359052 0.00005
NM_000069.3(CACNA1S):c.1819G>A (p.Val607Ile) rs377461013 0.00005
NM_000069.3(CACNA1S):c.2726A>G (p.Asn909Ser) rs139935847 0.00005
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met) rs200646556 0.00005
NM_000070.3(CAPN3):c.2093G>A (p.Arg698His) rs190793093 0.00005
NM_000070.3(CAPN3):c.245C>T (p.Pro82Leu) rs886042478 0.00005
NM_000070.3(CAPN3):c.258dup (p.Leu87fs) rs753360208 0.00005
NM_000070.3(CAPN3):c.640G>A (p.Gly214Ser) rs369784333 0.00005
NM_000078.3(CETP):c.544C>T (p.Gln182Ter) rs142750310 0.00005
NM_000082.4(ERCC8):c.37G>T (p.Glu13Ter) rs121434324 0.00005
NM_000083.3(CLCN1):c.1222C>G (p.Pro408Ala) rs202019723 0.00005
NM_000094.4(COL7A1):c.6473G>A (p.Arg2158His) rs138626345 0.00005
NM_000104.4(CYP1B1):c.1310C>T (p.Pro437Leu) rs56175199 0.00005
NM_000128.4(F11):c.438C>A (p.Cys146Ter) rs121965066 0.00005
NM_000135.4(FANCA):c.2T>C (p.Met1Thr) rs769479800 0.00005
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly) rs149277003 0.00005
NM_000143.4(FH):c.1127A>C (p.Gln376Pro) rs200796606 0.00005
NM_000152.5(GAA):c.1725C>T (p.Tyr575=) rs112517802 0.00005
NM_000152.5(GAA):c.2672G>A (p.Arg891His) rs199524847 0.00005
NM_000156.6(GAMT):c.59G>C (p.Trp20Ser) rs80338734 0.00005
NM_000158.4(GBE1):c.1544G>A (p.Arg515His) rs201958741 0.00005
NM_000169.3(GLA):c.619T>C (p.Tyr207His) rs372416832 0.00005
NM_000169.3(GLA):c.640-801G>A rs199473684 0.00005
NM_000179.3(MSH6):c.2173A>G (p.Ile725Val) rs148898662 0.00005
NM_000179.3(MSH6):c.3425C>T (p.Thr1142Met) rs267608089 0.00005
NM_000182.5(HADHA):c.180+3A>G rs781222705 0.00005
NM_000183.3(HADHB):c.182G>A (p.Arg61His) rs121913132 0.00005
NM_000202.8(IDS):c.851C>T (p.Pro284Leu) rs782286857 0.00005
NM_000211.5(ITGB2):c.1320G>C (p.Gln440His) rs138703739 0.00005
NM_000249.4(MLH1):c.1154G>A (p.Arg385His) rs63750430 0.00005
NM_000257.4(MYH7):c.5559+4C>T rs727504319 0.00005
NM_000260.4(MYO7A):c.3862G>C (p.Ala1288Pro) rs749747871 0.00005
NM_000288.4(PEX7):c.618G>A (p.Trp206Ter) rs61753245 0.00005
NM_000334.4(SCN4A):c.2419G>A (p.Ala807Thr) rs770694096 0.00005
NM_000342.3(SLC4A1):c.388G>A (p.Gly130Arg) rs121912749 0.00005
NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn) rs62642574 0.00005
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr) rs119455954 0.00005
NM_000392.5(ABCC2):c.576+1G>A rs376398719 0.00005
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314 0.00005
NM_000404.4(GLB1):c.602G>A (p.Arg201His) rs189115557 0.00005
NM_000426.4(LAMA2):c.5562+1G>A rs376014152 0.00005
NM_000426.4(LAMA2):c.7058G>A (p.Arg2353His) rs548483084 0.00005
NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile) rs397516421 0.00005
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256 0.00005
NM_000443.4(ABCB4):c.3705C>T (p.Thr1235=) rs772206941 0.00005
NM_000463.3(UGT1A1):c.524T>A (p.Leu175Gln) rs72551341 0.00005
NM_000492.4(CFTR):c.3200C>T (p.Ala1067Val) rs1800114 0.00005
NM_000492.4(CFTR):c.3409A>G (p.Met1137Val) rs397508553 0.00005
NM_000518.4(HBB):c.220G>A (p.Asp74Asn) rs33945705 0.00005
NM_000520.6(HEXA):c.460-1G>T rs764343937 0.00005
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser) rs544453230 0.00005
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met) rs138477254 0.00005
NM_000527.5(LDLR):c.73G>A (p.Asp25Asn) rs562712652 0.00005
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn) rs121908030 0.00005
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys) rs121964961 0.00005
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly) rs367543058 0.00005
NM_000540.3(RYR1):c.14283G>A (p.Pro4761=) rs201157293 0.00005
NM_000540.3(RYR1):c.14344G>A (p.Gly4782Arg) rs746538672 0.00005
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp) rs118192173 0.00005
NM_000540.3(RYR1):c.3442G>A (p.Val1148Ile) rs201174268 0.00005
NM_000540.3(RYR1):c.4306G>A (p.Val1436Met) rs200289457 0.00005
NM_000540.3(RYR1):c.5287C>T (p.Pro1763Ser) rs202225176 0.00005
NM_000540.3(RYR1):c.6418C>T (p.Arg2140Trp) rs750275456 0.00005
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593 0.00005
NM_000540.3(RYR1):c.767G>A (p.Arg256His) rs772767943 0.00005
NM_000540.3(RYR1):c.7800T>C (p.Arg2600=) rs762682222 0.00005
NM_000540.3(RYR1):c.7839C>T (p.Tyr2613=) rs758413758 0.00005
NM_000540.3(RYR1):c.9859C>T (p.Arg3287Cys) rs201276068 0.00005
NM_000548.5(TSC2):c.1820C>T (p.Ala607Val) rs397515296 0.00005
NM_000751.3(CHRND):c.849G>A (p.Ser283=) rs749757968 0.00005
NM_001005361.3(DNM2):c.2231T>C (p.Val744Ala) rs777609224 0.00005
NM_001079872.2(CUL4B):c.920+9G>A rs375607970 0.00005
NM_001101362.3(KBTBD13):c.290T>C (p.Leu97Pro) rs767384093 0.00005
NM_001101426.4(CRPPA):c.277_279del (p.Ile93del) rs397515398 0.00005
NM_001110556.2(FLNA):c.5342A>G (p.Asn1781Ser) rs373089783 0.00005
NM_001126108.2(SLC12A3):c.2938G>A (p.Gly980Arg) rs34803727 0.00005
NM_001130987.2(DYSF):c.853C>T (p.Arg285Trp) rs149827237 0.00005
NM_001131016.2(CIZ1):c.703C>T (p.Pro235Ser) rs773783827 0.00005
NM_001134407.3(GRIN2A):c.3505C>T (p.Arg1169Trp) rs369878342 0.00005
NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter) rs777215595 0.00005
NM_001142800.2(EYS):c.8107G>T (p.Glu2703Ter) rs184722374 0.00005
NM_001142864.4(PIEZO1):c.172C>T (p.Arg58Cys) rs778920824 0.00005
NM_001142864.4(PIEZO1):c.2914C>T (p.Arg972Cys) rs756067217 0.00005
NM_001142864.4(PIEZO1):c.3325G>A (p.Ala1109Thr) rs954133038 0.00005
NM_001142864.4(PIEZO1):c.5827C>T (p.Arg1943Trp) rs970663890 0.00005
NM_001142864.4(PIEZO1):c.6443T>C (p.Ile2148Thr) rs768312615 0.00005
NM_001142864.4(PIEZO1):c.7369G>A (p.Gly2457Arg) rs747385238 0.00005
NM_001142864.4(PIEZO1):c.7501G>A (p.Ala2501Thr) rs922432809 0.00005
NM_001163435.3(TBCK):c.2159C>T (p.Ser720Phe) rs370050799 0.00005
NM_001164508.2(NEB):c.23185G>A (p.Ala7729Thr) rs886038449 0.00005
NM_001164508.2(NEB):c.23510C>T (p.Thr7837Met) rs370108917 0.00005
NM_001164508.2(NEB):c.23742+2T>C rs545937015 0.00005
NM_001164508.2(NEB):c.9768C>T (p.Tyr3256=) rs747458739 0.00005
NM_001165963.4(SCN1A):c.2057A>C (p.Glu686Ala) rs374767754 0.00005
NM_001165963.4(SCN1A):c.4570C>A (p.Pro1524Thr) rs143088184 0.00005
NM_001166114.2(PNPLA6):c.4003C>T (p.Pro1335Ser) rs151264767 0.00005
NM_001171.6(ABCC6):c.3340C>T (p.Arg1114Cys) rs63749794 0.00005
NM_001267550.2(TTN):c.101506T>A (p.Cys33836Ser) rs766439271 0.00005
NM_001267550.2(TTN):c.102328C>T (p.Arg34110Trp) rs754873937 0.00005
NM_001267550.2(TTN):c.104000T>C (p.Ile34667Thr) rs727504476 0.00005
NM_001267550.2(TTN):c.105413T>C (p.Met35138Thr) rs771741670 0.00005
NM_001267550.2(TTN):c.105424G>A (p.Glu35142Lys) rs765274398 0.00005
NM_001267550.2(TTN):c.105608T>C (p.Val35203Ala) rs771136390 0.00005
NM_001267550.2(TTN):c.105719G>A (p.Arg35240Gln) rs530537991 0.00005
NM_001267550.2(TTN):c.106100C>T (p.Thr35367Met) rs377056111 0.00005
NM_001267550.2(TTN):c.106604T>C (p.Val35535Ala) rs368179478 0.00005
NM_001267550.2(TTN):c.133G>C (p.Val45Leu) rs142028110 0.00005
NM_001267550.2(TTN):c.14339G>A (p.Ser4780Asn) rs147879266 0.00005
NM_001267550.2(TTN):c.14662C>G (p.Pro4888Ala) rs376799249 0.00005
NM_001267550.2(TTN):c.1834A>G (p.Lys612Glu) rs727505256 0.00005
NM_001267550.2(TTN):c.18778A>C (p.Lys6260Gln) rs375652574 0.00005
NM_001267550.2(TTN):c.1895G>A (p.Gly632Asp) rs150231219 0.00005
NM_001267550.2(TTN):c.19441C>A (p.Pro6481Thr) rs73038342 0.00005
NM_001267550.2(TTN):c.19541G>T (p.Trp6514Leu) rs760007747 0.00005
NM_001267550.2(TTN):c.22386T>A (p.Asp7462Glu) rs183482849 0.00005
NM_001267550.2(TTN):c.22666C>T (p.Arg7556Cys) rs754885396 0.00005
NM_001267550.2(TTN):c.22922C>T (p.Ser7641Leu) rs369508943 0.00005
NM_001267550.2(TTN):c.2386G>A (p.Asp796Asn) rs766935265 0.00005
NM_001267550.2(TTN):c.24619G>A (p.Asp8207Asn) rs756813056 0.00005
NM_001267550.2(TTN):c.26161G>A (p.Val8721Met) rs777730788 0.00005
NM_001267550.2(TTN):c.30230C>T (p.Pro10077Leu) rs374075627 0.00005
NM_001267550.2(TTN):c.30283G>A (p.Ala10095Thr) rs201635835 0.00005
NM_001267550.2(TTN):c.30717A>C (p.Lys10239Asn) rs553520141 0.00005
NM_001267550.2(TTN):c.3514C>A (p.Leu1172Ile) rs375735354 0.00005
NM_001267550.2(TTN):c.39235G>A (p.Val13079Ile) rs777119867 0.00005
NM_001267550.2(TTN):c.4153G>A (p.Ala1385Thr) rs140760859 0.00005
NM_001267550.2(TTN):c.42847C>T (p.Arg14283Cys) rs199684560 0.00005
NM_001267550.2(TTN):c.44542G>A (p.Val14848Met) rs759373140 0.00005
NM_001267550.2(TTN):c.44813T>C (p.Val14938Ala) rs571522834 0.00005
NM_001267550.2(TTN):c.44900G>A (p.Arg14967Gln) rs752671402 0.00005
NM_001267550.2(TTN):c.46489G>T (p.Val15497Phe) rs371299188 0.00005
NM_001267550.2(TTN):c.48670T>C (p.Trp16224Arg) rs148549746 0.00005
NM_001267550.2(TTN):c.49801G>T (p.Val16601Leu) rs773271774 0.00005
NM_001267550.2(TTN):c.50308C>T (p.Leu16770=) rs370782852 0.00005
NM_001267550.2(TTN):c.5255G>A (p.Arg1752His) rs150737838 0.00005
NM_001267550.2(TTN):c.5296G>A (p.Val1766Ile) rs149494502 0.00005
NM_001267550.2(TTN):c.54178G>A (p.Val18060Ile) rs190574498 0.00005
NM_001267550.2(TTN):c.54517C>T (p.Pro18173Ser) rs766074604 0.00005
NM_001267550.2(TTN):c.54581G>A (p.Gly18194Asp) rs201802447 0.00005
NM_001267550.2(TTN):c.56351G>A (p.Arg18784His) rs771284532 0.00005
NM_001267550.2(TTN):c.56871C>T (p.Ser18957=) rs370619063 0.00005
NM_001267550.2(TTN):c.56947G>A (p.Ala18983Thr) rs377000174 0.00005
NM_001267550.2(TTN):c.59657T>G (p.Val19886Gly) rs755949982 0.00005
NM_001267550.2(TTN):c.59926C>T (p.His19976Tyr) rs727503588 0.00005
NM_001267550.2(TTN):c.63464G>A (p.Arg21155His) rs373169150 0.00005
NM_001267550.2(TTN):c.64903C>T (p.Arg21635Cys) rs201614524 0.00005
NM_001267550.2(TTN):c.66386G>A (p.Arg22129His) rs187257105 0.00005
NM_001267550.2(TTN):c.67322A>G (p.Glu22441Gly) rs201223583 0.00005
NM_001267550.2(TTN):c.67705C>T (p.Arg22569Trp) rs746313264 0.00005
NM_001267550.2(TTN):c.70102A>G (p.Ile23368Val) rs367914610 0.00005
NM_001267550.2(TTN):c.70645G>A (p.Val23549Ile) rs755669336 0.00005
NM_001267550.2(TTN):c.70864G>A (p.Val23622Ile) rs72646892 0.00005
NM_001267550.2(TTN):c.71699G>A (p.Arg23900Gln) rs369292052 0.00005
NM_001267550.2(TTN):c.72167G>A (p.Arg24056His) rs398124455 0.00005
NM_001267550.2(TTN):c.73517G>A (p.Gly24506Asp) rs567446185 0.00005
NM_001267550.2(TTN):c.74305A>G (p.Asn24769Asp) rs372787601 0.00005
NM_001267550.2(TTN):c.74582C>T (p.Ala24861Val) rs149232991 0.00005
NM_001267550.2(TTN):c.76051T>C (p.Trp25351Arg) rs201839118 0.00005
NM_001267550.2(TTN):c.77654T>C (p.Ile25885Thr) rs199514898 0.00005
NM_001267550.2(TTN):c.80720C>A (p.Pro26907Gln) rs375693686 0.00005
NM_001267550.2(TTN):c.80905G>A (p.Val26969Ile) rs377667066 0.00005
NM_001267550.2(TTN):c.82220T>C (p.Ile27407Thr) rs376037252 0.00005
NM_001267550.2(TTN):c.84964C>T (p.Arg28322Cys) rs774978209 0.00005
NM_001267550.2(TTN):c.86821+2T>A rs397517735 0.00005
NM_001267550.2(TTN):c.86983G>A (p.Ala28995Thr) rs774191975 0.00005
NM_001267550.2(TTN):c.89760A>C (p.Glu29920Asp) rs747181293 0.00005
NM_001267550.2(TTN):c.899C>A (p.Thr300Asn) rs376737897 0.00005
NM_001267550.2(TTN):c.92451G>T (p.Glu30817Asp) rs397517755 0.00005
NM_001267550.2(TTN):c.93130G>A (p.Gly31044Ser) rs750213547 0.00005
NM_001267550.2(TTN):c.93725G>A (p.Arg31242His) rs369899675 0.00005
NM_001267550.2(TTN):c.93917T>C (p.Ile31306Thr) rs555405542 0.00005
NM_001267550.2(TTN):c.9443G>A (p.Arg3148His) rs368786036 0.00005
NM_001267550.2(TTN):c.94700A>G (p.Asn31567Ser) rs886042885 0.00005
NM_001267550.2(TTN):c.96286G>A (p.Ala32096Thr) rs376039623 0.00005
NM_001267550.2(TTN):c.97472T>C (p.Ile32491Thr) rs781572378 0.00005
NM_001267550.2(TTN):c.98021G>A (p.Arg32674His) rs750969198 0.00005
NM_001267550.2(TTN):c.9851A>G (p.Lys3284Arg) rs147903846 0.00005
NM_001267550.2(TTN):c.98866A>G (p.Met32956Val) rs727503538 0.00005
NM_001267550.2(TTN):c.9908C>T (p.Pro3303Leu) rs201379132 0.00005
NM_001267550.2(TTN):c.99178A>C (p.Ile33060Leu) rs142108986 0.00005
NM_001267550.2(TTN):c.99434G>A (p.Arg33145Gln) rs371531675 0.00005
NM_001278716.2(FBXL4):c.1135C>T (p.Arg379Cys) rs778692687 0.00005
NM_001278716.2(FBXL4):c.64C>T (p.Arg22Ter) rs200440128 0.00005
NM_001330260.2(SCN8A):c.1779G>C (p.Glu593Asp) rs760717246 0.00005
NM_001347721.2(DYRK1A):c.300+3A>G rs1241074832 0.00005
NM_001355436.2(SPTB):c.1004C>T (p.Thr335Met) rs200381147 0.00005
NM_001360.3(DHCR7):c.1A>G (p.Met1Val) rs104886033 0.00005
NM_001360.3(DHCR7):c.976G>T (p.Val326Leu) rs80338859 0.00005
NM_001360016.2(G6PD):c.1330G>A (p.Val444Ile) rs782250606 0.00005
NM_001368067.1(LDB3):c.346G>A (p.Ala116Thr) rs200458194 0.00005
NM_001374385.1(ATP8B1):c.1538T>C (p.Ile513Thr) rs772028343 0.00005
NM_001378452.1(ITPR1):c.256G>A (p.Ala86Thr) rs767787371 0.00005
NM_001458.5(FLNC):c.3209C>T (p.Pro1070Leu) rs370391049 0.00005
NM_001458.5(FLNC):c.4092G>C (p.Leu1364Phe) rs768635501 0.00005
NM_001458.5(FLNC):c.6865G>A (p.Ala2289Thr) rs766740877 0.00005
NM_001458.5(FLNC):c.7560C>T (p.Thr2520=) rs527921534 0.00005
NM_001611.5(ACP5):c.131C>T (p.Thr44Met) rs369804864 0.00005
NM_001844.5(COL2A1):c.1364C>T (p.Thr455Met) rs775754967 0.00005
NM_001844.5(COL2A1):c.4148C>T (p.Thr1383Met) rs138498898 0.00005
NM_001845.6(COL4A1):c.1754G>A (p.Arg585His) rs754034347 0.00005
NM_001845.6(COL4A1):c.3019C>T (p.Pro1007Ser) rs141418421 0.00005
NM_001845.6(COL4A1):c.3164C>T (p.Pro1055Leu) rs375787099 0.00005
NM_001845.6(COL4A1):c.3997G>A (p.Asp1333Asn) rs141395813 0.00005
NM_001854.4(COL11A1):c.1245+1G>A rs766849561 0.00005
NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu) rs80356779 0.00005
NM_001918.5(DBT):c.1309G>A (p.Glu437Lys) rs772490888 0.00005
NM_002016.2(FLG):c.7487del (p.Thr2496fs) rs774362740 0.00005
NM_002063.4(GLRA2):c.1186C>A (p.Pro396Thr) rs368138282 0.00005
NM_002148.4(HOXD10):c.266G>A (p.Arg89Gln) rs374700658 0.00005
NM_002180.3(IGHMBP2):c.2668G>A (p.Ala890Thr) rs138607722 0.00005
NM_002206.3(ITGA7):c.2357+1G>A rs200402328 0.00005
NM_002206.3(ITGA7):c.3263G>A (p.Arg1088Gln) rs754655315 0.00005
NM_002693.3(POLG):c.1761G>A (p.Pro587=) rs374805003 0.00005
NM_002693.3(POLG):c.1850G>A (p.Arg617His) rs779961986 0.00005
NM_002863.5(PYGL):c.1947C>A (p.Tyr649Ter) rs150547274 0.00005
NM_003042.4(SLC6A1):c.13G>A (p.Gly5Ser) rs551940721 0.00005
NM_003072.5(SMARCA4):c.3791C>T (p.Thr1264Met) rs377119410 0.00005
NM_003119.4(SPG7):c.1948G>A (p.Asp650Asn) rs769602042 0.00005
NM_003126.4(SPTA1):c.1669C>T (p.Arg557Cys) rs143816549 0.00005
NM_003126.4(SPTA1):c.2204C>T (p.Ala735Val) rs377362395 0.00005
NM_003126.4(SPTA1):c.6250G>C (p.Asp2084His) rs764529922 0.00005
NM_003244.4(TGIF1):c.83C>G (p.Ser28Cys) rs121909066 0.00005
NM_003482.4(KMT2D):c.5821A>G (p.Met1941Val) rs372271746 0.00005
NM_003673.4(TCAP):c.113G>T (p.Cys38Phe) rs375310569 0.00005
NM_003805.5(CRADD):c.382G>C (p.Gly128Arg) rs387906861 0.00005
NM_003919.3(SGCE):c.21G>A (p.Trp7Ter) rs201378067 0.00005
NM_004006.3(DMD):c.10442A>G (p.Gln3481Arg) rs368594777 0.00005
NM_004006.3(DMD):c.1687C>T (p.Arg563Cys) rs145739725 0.00005
NM_004006.3(DMD):c.3936G>C (p.Leu1312Phe) rs377156960 0.00005
NM_004006.3(DMD):c.6452G>A (p.Gly2151Asp) rs727503815 0.00005
NM_004006.3(DMD):c.923C>A (p.Thr308Asn) rs145064612 0.00005
NM_004046.6(ATP5F1A):c.389T>C (p.Ile130Thr) rs563376014 0.00005
NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter) rs748089700 0.00005
NM_004320.6(ATP2A1):c.428G>A (p.Arg143Gln) rs750195772 0.00005
NM_004369.4(COL6A3):c.2972C>T (p.Ala991Val) rs202185764 0.00005
NM_004369.4(COL6A3):c.3901C>T (p.Arg1301Trp) rs150430813 0.00005
NM_004370.6(COL12A1):c.2372C>T (p.Ser791Phe) rs376517147 0.00005
NM_004370.6(COL12A1):c.6608-4G>A rs374995108 0.00005
NM_004370.6(COL12A1):c.7813A>C (p.Lys2605Gln) rs200751269 0.00005
NM_004415.4(DSP):c.8507G>A (p.Gly2836Glu) rs764232504 0.00005
NM_004453.4(ETFDH):c.1367C>T (p.Pro456Leu) rs398124152 0.00005
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr) rs121964954 0.00005
NM_004820.5(CYP7B1):c.1354C>T (p.Arg452Ter) rs769676029 0.00005
NM_004937.3(CTNS):c.589G>A (p.Gly197Arg) rs113994207 0.00005
NM_005055.5(RAPSN):c.280G>A (p.Glu94Lys) rs200550567 0.00005
NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro) rs104894293 0.00005
NM_005529.7(HSPG2):c.12666-4G>A rs575126803 0.00005
NM_005566.4(LDHA):c.843C>T (p.Tyr281=) rs143206293 0.00005
NM_005609.4(PYGM):c.2178-1G>A rs143670942 0.00005
NM_005957.5(MTHFR):c.459C>G (p.Ile153Met) rs767890671 0.00005
NM_005993.5(TBCD):c.3365C>T (p.Pro1122Leu) rs755177846 0.00005
NM_006147.4(IRF6):c.1259G>A (p.Arg420His) rs115777201 0.00005
NM_006258.4(PRKG1):c.421A>C (p.Lys141Gln) rs761759814 0.00005
NM_006516.4(SLC2A1):c.188C>T (p.Thr63Met) rs200828053 0.00005
NM_006767.4(LZTR1):c.1018C>T (p.Arg340Ter) rs149850248 0.00005
NM_006767.4(LZTR1):c.1397G>A (p.Arg466Gln) rs587777180 0.00005
NM_006790.3(MYOT):c.1203T>A (p.Asp401Glu) rs78633961 0.00005
NM_006946.4(SPTBN2):c.6266G>A (p.Arg2089Lys) rs569905004 0.00005
NM_007103.4(NDUFV1):c.166T>C (p.Ser56Pro) rs201727685 0.00005
NM_007254.4(PNKP):c.968C>T (p.Thr323Met) rs372148913 0.00005
NM_012144.4(DNAI1):c.1490G>A (p.Gly497Asp) rs376252276 0.00005
NM_012186.3(FOXE3):c.244A>G (p.Met82Val) rs746531116 0.00005
NM_012210.4(TRIM32):c.265G>A (p.Ala89Thr) rs539376933 0.00005
NM_012243.3(SLC35A3):c.886A>G (p.Ser296Gly) rs141952252 0.00005
NM_012452.3(TNFRSF13B):c.492C>G (p.Tyr164Ter) rs72553882 0.00005
NM_014727.3(KMT2B):c.5092G>A (p.Asp1698Asn) rs374963939 0.00005
NM_015102.5(NPHP4):c.1408C>T (p.Arg470Trp) rs367686843 0.00005
NM_015474.4(SAMHD1):c.1343T>C (p.Ile448Thr) rs774964432 0.00005
NM_015559.3(SETBP1):c.3731A>G (p.Gln1244Arg) rs201474295 0.00005
NM_016219.5(MAN1B1):c.1000C>T (p.Arg334Cys) rs387906886 0.00005
NM_017780.4(CHD7):c.3366G>C (p.Lys1122Asn) rs41272440 0.00005
NM_018116.4(MSTO1):c.1033C>T (p.Arg345Cys) rs749922789 0.00005
NM_018668.5(VPS33B):c.277C>T (p.Arg93Ter) rs368124813 0.00005
NM_018896.5(CACNA1G):c.1556C>T (p.Pro519Leu) rs757227515 0.00005
NM_020247.5(COQ8A):c.1000C>T (p.Arg334Trp) rs373971613 0.00005
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527 0.00005
NM_020320.5(RARS2):c.1544A>G (p.Asp515Gly) rs765088174 0.00005
NM_020442.6(VARS2):c.1346G>A (p.Trp449Ter) rs535246705 0.00005
NM_020549.5(CHAT):c.1037G>A (p.Arg346His) rs779668516 0.00005
NM_020549.5(CHAT):c.1814G>A (p.Arg605His) rs199926163 0.00005
NM_020549.5(CHAT):c.794G>A (p.Gly265Glu) rs777336258 0.00005
NM_020937.4(FANCM):c.4934G>A (p.Arg1645His) rs377502779 0.00005
NM_021971.4(GMPPB):c.988G>A (p.Val330Ile) rs199922550 0.00005
NM_022132.5(MCCC2):c.295G>C (p.Glu99Gln) rs119103219 0.00005
NM_022168.4(IFIH1):c.1222G>A (p.Asp408Asn) rs148540097 0.00005
NM_024334.3(TMEM43):c.214G>A (p.Val72Met) rs368603914 0.00005
NM_024408.4(NOTCH2):c.2816C>T (p.Pro939Leu) rs201100122 0.00005
NM_024675.4(PALB2):c.3428T>A (p.Leu1143His) rs62625284 0.00005
NM_025074.7(FRAS1):c.9628G>A (p.Ala3210Thr) rs145189350 0.00005
NM_031448.6(C19orf12):c.68C>T (p.Ala23Val) rs544395324 0.00005
NM_031475.3(ESPN):c.2027C>G (p.Thr676Arg) rs771737095 0.00005
NM_032237.5(POMK):c.256C>T (p.Arg86Cys) rs370978230 0.00005
NM_032756.4(HPDL):c.469T>C (p.Trp157Arg) rs567130416 0.00005
NM_033100.4(CDHR1):c.562G>A (p.Gly188Ser) rs748412274 0.00005
NM_138413.4(HOGA1):c.952C>T (p.Arg318Cys) rs776161817 0.00005
NM_138477.4(CDAN1):c.548C>T (p.Ser183Leu) rs370757859 0.00005
NM_152416.4(NDUFAF6):c.298-768T>C rs575462405 0.00005
NM_152564.5(VPS13B):c.9035C>G (p.Thr3012Ser) rs576577339 0.00005
NM_153033.5(KCTD7):c.190A>G (p.Thr64Ala) rs201296399 0.00005
NM_172362.3(KCNH1):c.2359G>A (p.Val787Met) rs377557048 0.00005
NM_173354.5(SIK1):c.1055A>G (p.Gln352Arg) rs767076281 0.00005
NM_174936.4(PCSK9):c.286C>T (p.Arg96Cys) rs185392267 0.00005
NM_182961.4(SYNE1):c.11089A>G (p.Ile3697Val) rs368828206 0.00005
NM_182961.4(SYNE1):c.11702G>C (p.Ser3901Thr) rs376327805 0.00005
NM_182961.4(SYNE1):c.20069C>T (p.Thr6690Met) rs143674856 0.00005
NM_194248.3(OTOF):c.5816G>A (p.Arg1939Gln) rs80356605 0.00005
NM_201253.3(CRB1):c.584G>T (p.Cys195Phe) rs764256655 0.00005
NM_201384.3(PLEC):c.10207C>T (p.Arg3403Trp) rs542488020 0.00005
NM_201384.3(PLEC):c.1676G>A (p.Arg559Gln) rs376555091 0.00005
NM_201384.3(PLEC):c.5951G>A (p.Arg1984His) rs575072418 0.00005
NM_201384.3(PLEC):c.7666C>T (p.Arg2556Trp) rs781882121 0.00005
NM_206926.2(SELENON):c.1A>G (p.Met1Val) rs121908184 0.00005
NM_206933.4(USH2A):c.9110G>A (p.Arg3037His) rs533700989 0.00005
NM_213599.3(ANO5):c.1924C>G (p.Arg642Gly) rs146341538 0.00005
NM_213599.3(ANO5):c.749A>G (p.Tyr250Cys) rs781734224 0.00005
NM_000017.4(ACADS):c.1138C>T (p.Arg380Trp) rs28940875 0.00004
NM_000017.4(ACADS):c.1156C>T (p.Arg386Cys) rs537072819 0.00004
NM_000019.4(ACAT1):c.444_445del (p.Met148fs) rs727503795 0.00004
NM_000023.4(SGCA):c.661C>T (p.Arg221Cys) rs748936034 0.00004
NM_000037.4(ANK1):c.5600C>T (p.Ala1867Val) rs767580738 0.00004
NM_000038.6(APC):c.6639G>A (p.Met2213Ile) rs35540155 0.00004
NM_000045.4(ARG1):c.892G>C (p.Ala298Pro) rs755359126 0.00004
NM_000046.5(ARSB):c.971G>T (p.Gly324Val) rs398123125 0.00004
NM_000051.4(ATM):c.1516G>T (p.Gly506Cys) rs587779816 0.00004
NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu) rs141087784 0.00004
NM_000053.4(ATP7B):c.3451C>T (p.Arg1151Cys) rs755554442 0.00004
NM_000053.4(ATP7B):c.3956G>A (p.Arg1319Gln) rs529307157 0.00004
NM_000055.4(BCHE):c.1354C>T (p.Arg452Ter) rs530517316 0.00004
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter) rs587779884 0.00004
NM_000059.4(BRCA2):c.7102T>G (p.Leu2368Val) rs397507382 0.00004
NM_000062.3(SERPING1):c.117C>G (p.Asp39Glu) rs11229062 0.00004
NM_000069.3(CACNA1S):c.1492C>T (p.Arg498Cys) rs532351874 0.00004
NM_000069.3(CACNA1S):c.3746G>A (p.Arg1249Gln) rs775009783 0.00004
NM_000069.3(CACNA1S):c.4415G>A (p.Arg1472His) rs201463541 0.00004
NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu) rs199806879 0.00004
NM_000070.3(CAPN3):c.865C>T (p.Arg289Trp) rs528417986 0.00004
NM_000079.4(CHRNA1):c.1321G>A (p.Gly441Arg) rs768407867 0.00004
NM_000083.3(CLCN1):c.1748A>G (p.Gln583Arg) rs747895358 0.00004
NM_000083.3(CLCN1):c.412G>A (p.Val138Ile) rs762344462 0.00004
NM_000088.4(COL1A1):c.4168C>T (p.Leu1390Phe) rs768808806 0.00004
NM_000091.5(COL4A3):c.172G>A (p.Gly58Ser) rs184730597 0.00004
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg) rs569681869 0.00004
NM_000094.4(COL7A1):c.4024C>T (p.Pro1342Ser) rs200290149 0.00004
NM_000094.4(COL7A1):c.4531_4564-42del rs2044843806 0.00004
NM_000110.4(DPYD):c.257C>T (p.Pro86Leu) rs568132506 0.00004
NM_000124.4(ERCC6):c.803C>T (p.Ala268Val) rs548033657 0.00004
NM_000132.4(F8):c.1018G>A (p.Glu340Lys) rs781954986 0.00004
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu) rs148842275 0.00004
NM_000152.5(GAA):c.1629C>T (p.Tyr543=) rs372193105 0.00004
NM_000152.5(GAA):c.2656G>A (p.Val886Met) rs372802420 0.00004
NM_000153.4(GALC):c.1592G>A (p.Arg531His) rs200378205 0.00004
NM_000154.2(GALK1):c.1031C>T (p.Thr344Met) rs371517491 0.00004
NM_000154.2(GALK1):c.1045G>A (p.Gly349Ser) rs754967473 0.00004
NM_000158.4(GBE1):c.1825G>A (p.Glu609Lys) rs772802187 0.00004
NM_000169.3(GLA):c.196G>C (p.Glu66Gln) rs104894833 0.00004
NM_000170.3(GLDC):c.2311G>A (p.Gly771Arg) rs386833553 0.00004
NM_000175.5(GPI):c.1039C>T (p.Arg347Cys) rs758132799 0.00004
NM_000175.5(GPI):c.671C>T (p.Thr224Met) rs61754634 0.00004
NM_000190.4(HMBS):c.601C>T (p.Arg201Trp) rs118204109 0.00004
NM_000197.2(HSD17B3):c.645A>T (p.Glu215Asp) rs115063639 0.00004
NM_000202.8(IDS):c.301C>T (p.Arg101Cys) rs782738754 0.00004
NM_000203.5(IDUA):c.1403-1G>T rs4690223 0.00004
NM_000214.3(JAG1):c.1527C>A (p.Phe509Leu) rs770377023 0.00004
NM_000218.3(KCNQ1):c.1456G>A (p.Ala486Thr) rs753256800 0.00004
NM_000255.4(MMUT):c.280G>A (p.Gly94Arg) rs727504022 0.00004
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226 0.00004
NM_000256.3(MYBPC3):c.3330+2T>G rs387906397 0.00004
NM_000256.3(MYBPC3):c.956A>C (p.Glu319Ala) rs545675333 0.00004
NM_000257.4(MYH7):c.1405G>A (p.Asp469Asn) rs397516106 0.00004
NM_000257.4(MYH7):c.5305C>A (p.Leu1769Met) rs139222507 0.00004
NM_000260.4(MYO7A):c.160A>G (p.Thr54Ala) rs369142107 0.00004
NM_000271.5(NPC1):c.695A>G (p.Asp232Gly) rs201956601 0.00004
NM_000277.3(PAH):c.261C>A (p.Ser87Arg) rs62516151 0.00004
NM_000277.3(PAH):c.842+1G>A rs5030852 0.00004
NM_000277.3(PAH):c.964G>A (p.Ala322Thr) rs62514957 0.00004
NM_000298.6(PKLR):c.1075C>T (p.Arg359Cys) rs138871700 0.00004
NM_000303.3(PMM2):c.24del (p.Cys9fs) rs768021123 0.00004
NM_000303.3(PMM2):c.640-15479C>T rs1258107584 0.00004
NM_000324.3(RHAG):c.157+1G>A rs375508949 0.00004
NM_000349.3(STAR):c.661G>A (p.Gly221Ser) rs139081695 0.00004
NM_000350.3(ABCA4):c.859-9T>C rs529598960 0.00004
NM_000352.6(ABCC8):c.2041-21G>A rs746714109 0.00004
NM_000363.5(TNNI3):c.422G>A (p.Arg141Gln) rs397516347 0.00004
NM_000371.4(TTR):c.148G>A (p.Val50Met) rs28933979 0.00004
NM_000371.4(TTR):c.262A>T (p.Ile88Leu) rs121918085 0.00004
NM_000400.4(ERCC2):c.1846C>T (p.Arg616Trp) rs121913024 0.00004
NM_000410.4(HFE):c.1006+1G>A rs573745685 0.00004
NM_000426.4(LAMA2):c.6539A>T (p.Asp2180Val) rs567385461 0.00004
NM_000429.3(MAT1A):c.529C>T (p.Arg177Trp) rs376757912 0.00004
NM_000435.3(NOTCH3):c.1678G>A (p.Val560Met) rs200160665 0.00004
NM_000441.2(SLC26A4):c.697G>C (p.Val233Leu) rs397516431 0.00004
NM_000448.3(RAG1):c.2924G>A (p.Arg975Gln) rs150739647 0.00004
NM_000492.4(CFTR):c.358G>A (p.Ala120Thr) rs201958172 0.00004
NM_000512.5(GALNS):c.181C>T (p.Arg61Trp) rs145798311 0.00004
NM_000521.4(HEXB):c.1082+5G>A rs5030731 0.00004
NM_000527.5(LDLR):c.1359-5C>G rs531005522 0.00004
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) rs139624145 0.00004
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp) rs28941776 0.00004
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu) rs28942084 0.00004
NM_000527.5(LDLR):c.2242G>A (p.Asp748Asn) rs150104358 0.00004
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr) rs376459828 0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_000532.5(PCCB):c.1541G>A (p.Arg514Gln) rs577625696 0.00004
NM_000535.7(PMS2):c.1A>G (p.Met1Val) rs587779333 0.00004
NM_000540.3(RYR1):c.10485G>C (p.Lys3495Asn) rs753726014 0.00004
NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter) rs377178986 0.00004
NM_000540.3(RYR1):c.1250T>C (p.Leu417Pro) rs764262446 0.00004
NM_000540.3(RYR1):c.13269G>A (p.Glu4423=) rs896569937 0.00004
NM_000540.3(RYR1):c.13498G>A (p.Glu4500Lys) rs752192756 0.00004
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met) rs118192140 0.00004
NM_000540.3(RYR1):c.3108C>A (p.Asp1036Glu) rs759317223 0.00004
NM_000540.3(RYR1):c.6274+1G>A rs1226228092 0.00004
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met) rs118192177 0.00004
NM_000540.3(RYR1):c.8305G>A (p.Asp2769Asn) rs566495420 0.00004
NM_000543.5(SMPD1):c.475T>C (p.Cys159Arg) rs727504166 0.00004
NM_000543.5(SMPD1):c.557C>T (p.Pro186Leu) rs1057517195 0.00004
NM_000548.5(TSC2):c.4023C>A (p.Ser1341Arg) rs45462593 0.00004
NM_000548.5(TSC2):c.5308C>T (p.Pro1770Ser) rs761181064 0.00004
NM_000551.4(VHL):c.119C>T (p.Pro40Leu) rs200343185 0.00004
NM_000551.4(VHL):c.562C>G (p.Leu188Val) rs5030824 0.00004
NM_000551.4(VHL):c.631A>C (p.Met211Leu) rs200019083 0.00004
NM_000552.5(VWF):c.2446C>T (p.Arg816Trp) rs121964894 0.00004
NM_000719.7(CACNA1C):c.1487G>A (p.Arg496Gln) rs369255950 0.00004
NM_000747.3(CHRNB1):c.1225C>G (p.Pro409Ala) rs202144045 0.00004
NM_000784.4(CYP27A1):c.1025A>G (p.Asn342Ser) rs778458082 0.00004
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln) rs587778818 0.00004
NM_000785.4(CYP27B1):c.1226C>T (p.Thr409Ile) rs118204008 0.00004
NM_000969.5(RPL5):c.403A>G (p.Ile135Val) rs200075817 0.00004
NM_001018115.3(FANCD2):c.2380C>T (p.Arg794Ter) rs755350165 0.00004
NM_001044385.3(TMEM237):c.42+1G>A rs1378726802 0.00004
NM_001048174.2(MUTYH):c.649C>T (p.Arg217Cys) rs200495564 0.00004
NM_001048174.2(MUTYH):c.954G>A (p.Ser318=) rs372673338 0.00004
NM_001077418.3(TMEM231):c.664G>A (p.Val222Ile) rs397514753 0.00004
NM_001082971.2(DDC):c.272C>T (p.Ala91Val) rs137853211 0.00004
NM_001101362.3(KBTBD13):c.1184C>T (p.Thr395Met) rs758995387 0.00004
NM_001127178.3(PIGG):c.2180G>A (p.Gly727Glu) rs201842856 0.00004
NM_001130987.2(DYSF):c.5742C>T (p.Phe1914=) rs769289729 0.00004
NM_001134407.3(GRIN2A):c.3363T>G (p.Asp1121Glu) rs764292783 0.00004
NM_001134407.3(GRIN2A):c.3884T>C (p.Ile1295Thr) rs757351084 0.00004
NM_001134407.3(GRIN2A):c.547T>A (p.Phe183Ile) rs587780353 0.00004
NM_001135055.2:c.769_770insCTACCTCCTTATCTTCTG rs781905246 0.00004
NM_001142864.4(PIEZO1):c.146G>A (p.Arg49Gln) rs779186692 0.00004
NM_001142864.4(PIEZO1):c.3331C>T (p.Gln1111Ter) rs1161335800 0.00004
NM_001142864.4(PIEZO1):c.4958G>A (p.Arg1653His) rs992473797 0.00004
NM_001142864.4(PIEZO1):c.5615G>A (p.Arg1872His) rs1004130638 0.00004
NM_001142864.4(PIEZO1):c.6380C>T (p.Thr2127Met) rs587776991 0.00004
NM_001142864.4(PIEZO1):c.6446T>A (p.Ile2149Asn) rs753600208 0.00004
NM_001142864.4(PIEZO1):c.7169G>A (p.Arg2390Gln) rs377011269 0.00004
NM_001164508.2(NEB):c.21417+3A>G rs148950085 0.00004
NM_001164508.2(NEB):c.21892A>T (p.Thr7298Ser) rs531618541 0.00004
NM_001164508.2(NEB):c.8363T>C (p.Ile2788Thr) rs990382620 0.00004
NM_001170535.3(ATAD3A):c.384C>T (p.Ala128=) rs763685989 0.00004
NM_001171.6(ABCC6):c.3088C>T (p.Arg1030Ter) rs72653705 0.00004
NM_001171.6(ABCC6):c.3412C>T (p.Arg1138Trp) rs28939701 0.00004
NM_001177316.2(SLC34A3):c.846G>A (p.Pro282=) rs121918236 0.00004
NM_001182.5(ALDH7A1):c.720C>T (p.Asp240=) rs757704473 0.00004
NM_001201543.2(FAM161A):c.1501del (p.Cys501fs) rs767414973 0.00004
NM_001242896.3(DEPDC5):c.4183G>A (p.Ala1395Thr) rs764462476 0.00004
NM_001243279.3(ACSF3):c.781G>T (p.Gly261Ter) rs746877433 0.00004
NM_001244008.2(KIF1A):c.223C>T (p.Arg75Trp) rs778224699 0.00004
NM_001267550.2(TTN):c.100384G>A (p.Glu33462Lys) rs748104690 0.00004
NM_001267550.2(TTN):c.102275G>A (p.Arg34092His) rs757918924 0.00004
NM_001267550.2(TTN):c.103658T>C (p.Ile34553Thr) rs727505196 0.00004
NM_001267550.2(TTN):c.104978C>T (p.Thr34993Met) rs368945564 0.00004
NM_001267550.2(TTN):c.105512C>T (p.Thr35171Ile) rs774524898 0.00004
NM_001267550.2(TTN):c.106858G>A (p.Glu35620Lys) rs377593605 0.00004
NM_001267550.2(TTN):c.1088C>T (p.Thr363Met) rs199590524 0.00004
NM_001267550.2(TTN):c.14119G>A (p.Glu4707Lys) rs749584249 0.00004
NM_001267550.2(TTN):c.14189G>A (p.Arg4730Gln) rs202017278 0.00004
NM_001267550.2(TTN):c.1447G>A (p.Ala483Thr) rs34337578 0.00004
NM_001267550.2(TTN):c.16010A>G (p.Asn5337Ser) rs752924679 0.00004
NM_001267550.2(TTN):c.1616T>A (p.Ile539Asn) rs774503024 0.00004
NM_001267550.2(TTN):c.16310G>A (p.Ser5437Asn) rs794727755 0.00004
NM_001267550.2(TTN):c.1640A>G (p.Gln547Arg) rs774937703 0.00004
NM_001267550.2(TTN):c.17833T>C (p.Ser5945Pro) rs776790387 0.00004
NM_001267550.2(TTN):c.18037T>C (p.Tyr6013His) rs548015673 0.00004
NM_001267550.2(TTN):c.18655G>A (p.Glu6219Lys) rs72648948 0.00004
NM_001267550.2(TTN):c.18719G>A (p.Arg6240Gln) rs761993856 0.00004
NM_001267550.2(TTN):c.19180G>C (p.Val6394Leu) rs370515485 0.00004
NM_001267550.2(TTN):c.19677A>C (p.Ala6559=) rs372654116 0.00004
NM_001267550.2(TTN):c.21544C>T (p.Arg7182Trp) rs727504736 0.00004
NM_001267550.2(TTN):c.21785C>G (p.Thr7262Ser) rs200954184 0.00004
NM_001267550.2(TTN):c.22575T>A (p.Asp7525Glu) rs200061856 0.00004
NM_001267550.2(TTN):c.23308G>A (p.Gly7770Arg) rs374739582 0.00004
NM_001267550.2(TTN):c.23444G>A (p.Arg7815Gln) rs372804810 0.00004
NM_001267550.2(TTN):c.2358C>G (p.His786Gln) rs199507913 0.00004
NM_001267550.2(TTN):c.24344G>A (p.Ser8115Asn) rs397517506 0.00004
NM_001267550.2(TTN):c.26148A>G (p.Lys8716=) rs778772942 0.00004
NM_001267550.2(TTN):c.2734C>T (p.Arg912Cys) rs371156190 0.00004
NM_001267550.2(TTN):c.28093C>T (p.Arg9365Trp) rs190600127 0.00004
NM_001267550.2(TTN):c.28094G>A (p.Arg9365Gln) rs570608843 0.00004
NM_001267550.2(TTN):c.2854G>C (p.Val952Leu) rs373848402 0.00004
NM_001267550.2(TTN):c.30857T>C (p.Ile10286Thr) rs369094355 0.00004
NM_001267550.2(TTN):c.31156G>A (p.Glu10386Lys) rs772195716 0.00004
NM_001267550.2(TTN):c.31174G>A (p.Glu10392Lys) rs187792775 0.00004
NM_001267550.2(TTN):c.36776C>T (p.Ala12259Val) rs755562550 0.00004
NM_001267550.2(TTN):c.39250G>T (p.Val13084Leu) rs72650062 0.00004
NM_001267550.2(TTN):c.39578A>G (p.Glu13193Gly) rs190461403 0.00004
NM_001267550.2(TTN):c.4087A>G (p.Thr1363Ala) rs768249663 0.00004
NM_001267550.2(TTN):c.41744C>T (p.Ala13915Val) rs371426048 0.00004
NM_001267550.2(TTN):c.42383G>C (p.Gly14128Ala) rs370793851 0.00004
NM_001267550.2(TTN):c.42672G>T (p.Leu14224=) rs368155350 0.00004
NM_001267550.2(TTN):c.42851G>A (p.Arg14284His) rs368572799 0.00004
NM_001267550.2(TTN):c.43019T>C (p.Ile14340Thr) rs397517571 0.00004
NM_001267550.2(TTN):c.45760A>T (p.Ile15254Phe) rs72677226 0.00004
NM_001267550.2(TTN):c.46363G>A (p.Asp15455Asn) rs370813526 0.00004
NM_001267550.2(TTN):c.46591G>A (p.Gly15531Arg) rs761815745 0.00004
NM_001267550.2(TTN):c.47089C>T (p.Arg15697Cys) rs780334981 0.00004
NM_001267550.2(TTN):c.47978C>A (p.Thr15993Asn) rs727503622 0.00004
NM_001267550.2(TTN):c.48395G>A (p.Arg16132His) rs397517593 0.00004
NM_001267550.2(TTN):c.48571A>G (p.Ile16191Val) rs747433688 0.00004
NM_001267550.2(TTN):c.50954C>T (p.Thr16985Ile) rs116765281 0.00004
NM_001267550.2(TTN):c.51175A>G (p.Ile17059Val) rs188395969 0.00004
NM_001267550.2(TTN):c.5264A>G (p.Asn1755Ser) rs201904897 0.00004
NM_001267550.2(TTN):c.54115G>A (p.Asp18039Asn) rs765148928 0.00004
NM_001267550.2(TTN):c.5582G>A (p.Arg1861His) rs140914855 0.00004
NM_001267550.2(TTN):c.56640C>A (p.Asn18880Lys) rs200544272 0.00004
NM_001267550.2(TTN):c.56686G>A (p.Val18896Met) rs370629962 0.00004
NM_001267550.2(TTN):c.56884C>T (p.Arg18962Trp) rs556286196 0.00004
NM_001267550.2(TTN):c.57971G>A (p.Arg19324Gln) rs186809500 0.00004
NM_001267550.2(TTN):c.58470T>A (p.Asp19490Glu) rs374118468 0.00004
NM_001267550.2(TTN):c.58747C>G (p.Pro19583Ala) rs758600822 0.00004
NM_001267550.2(TTN):c.60205T>C (p.Cys20069Arg) rs771201679 0.00004
NM_001267550.2(TTN):c.60786T>C (p.Pro20262=) rs1217782958 0.00004
NM_001267550.2(TTN):c.61276C>T (p.Leu20426Phe) rs377529060 0.00004
NM_001267550.2(TTN):c.61481T>C (p.Ile20494Thr) rs374845737 0.00004
NM_001267550.2(TTN):c.62097A>G (p.Pro20699=) rs774995592 0.00004
NM_001267550.2(TTN):c.63181C>T (p.Pro21061Ser) rs375401971 0.00004
NM_001267550.2(TTN):c.64959G>A (p.Ala21653=) rs776272431 0.00004
NM_001267550.2(TTN):c.65047C>A (p.Pro21683Thr) rs528707403 0.00004
NM_001267550.2(TTN):c.65649G>T (p.Leu21883Phe) rs374736305 0.00004
NM_001267550.2(TTN):c.66187G>C (p.Val22063Leu) rs768057735 0.00004
NM_001267550.2(TTN):c.67147G>A (p.Gly22383Arg) rs372388682 0.00004
NM_001267550.2(TTN):c.67210G>A (p.Val22404Met) rs369257896 0.00004
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter) rs574660186 0.00004
NM_001267550.2(TTN):c.70570A>G (p.Thr23524Ala) rs369526268 0.00004
NM_001267550.2(TTN):c.70831G>A (p.Ala23611Thr) rs373765469 0.00004
NM_001267550.2(TTN):c.75969T>C (p.Val25323=) rs368759398 0.00004
NM_001267550.2(TTN):c.7815C>T (p.Tyr2605=) rs184428451 0.00004
NM_001267550.2(TTN):c.79856G>A (p.Arg26619His) rs530507211 0.00004
NM_001267550.2(TTN):c.80083G>T (p.Val26695Leu) rs772729384 0.00004
NM_001267550.2(TTN):c.81545T>A (p.Ile27182Asn) rs373448447 0.00004
NM_001267550.2(TTN):c.83925G>A (p.Lys27975=) rs1031543708 0.00004
NM_001267550.2(TTN):c.85723G>A (p.Glu28575Lys) rs760762822 0.00004
NM_001267550.2(TTN):c.85838C>T (p.Thr28613Ile) rs368615862 0.00004
NM_001267550.2(TTN):c.88591C>T (p.Leu29531Phe) rs371483198 0.00004
NM_001267550.2(TTN):c.9154T>C (p.Tyr3052His) rs763833161 0.00004
NM_001267550.2(TTN):c.93179G>A (p.Arg31060His) rs776018262 0.00004
NM_001267550.2(TTN):c.93724C>T (p.Arg31242Cys) rs563887822 0.00004
NM_001267550.2(TTN):c.94664G>A (p.Arg31555His) rs727503545 0.00004
NM_001267550.2(TTN):c.96140C>T (p.Thr32047Met) rs375640847 0.00004
NM_001267550.2(TTN):c.97717C>T (p.Arg32573Cys) rs569593251 0.00004
NM_001267550.2(TTN):c.9827A>G (p.Glu3276Gly) rs377049518 0.00004
NM_001267550.2(TTN):c.98341T>C (p.Cys32781Arg) rs562178341 0.00004
NM_001267550.2(TTN):c.98641C>T (p.Pro32881Ser) rs367979582 0.00004
NM_001267550.2(TTN):c.98750C>T (p.Ser32917Phe) rs561932256 0.00004
NM_001271.4(CHD2):c.5047G>A (p.Ala1683Thr) rs747794466 0.00004
NM_001278116.2(L1CAM):c.1786G>A (p.Glu596Lys) rs137940405 0.00004
NM_001288705.3(CSF1R):c.1885G>T (p.Ala629Ser) rs17854478 0.00004
NM_001330360.2(POLA1):c.2756G>T (p.Arg919Ile) rs770629363 0.00004
NM_001330360.2(POLA1):c.3728C>T (p.Thr1243Met) rs759425597 0.00004
NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter) rs146448211 0.00004
NM_001355436.2(SPTB):c.6068C>T (p.Ala2023Val) rs367841692 0.00004
NM_001365536.1(SCN9A):c.2719C>T (p.Arg907Trp) rs202152511 0.00004
NM_001367721.1(CASK):c.2470C>T (p.Arg824Trp) rs369792621 0.00004
NM_001370259.2(MEN1):c.61C>A (p.Arg21Ser) rs541476418 0.00004
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys) rs397514345 0.00004
NM_001370658.1(BTD):c.873del (p.Ser291fs) rs397514395 0.00004
NM_001375524.1(TRRAP):c.4900G>A (p.Gly1634Ser) rs782510081 0.00004
NM_001457.4(FLNB):c.2935G>A (p.Val979Met) rs376511120 0.00004
NM_001457.4(FLNB):c.3770C>T (p.Pro1257Leu) rs199760437 0.00004
NM_001458.5(FLNC):c.1535C>T (p.Thr512Met) rs775538827 0.00004
NM_001458.5(FLNC):c.2519G>A (p.Arg840His) rs376472014 0.00004
NM_001458.5(FLNC):c.2842G>A (p.Gly948Arg) rs768103657 0.00004
NM_001458.5(FLNC):c.3680C>T (p.Thr1227Ile) rs373573447 0.00004
NM_001458.5(FLNC):c.4055G>A (p.Arg1352His) rs746731567 0.00004
NM_001458.5(FLNC):c.7609G>A (p.Ala2537Thr) rs201486752 0.00004
NM_001458.5(FLNC):c.7877G>A (p.Ser2626Asn) rs2639142 0.00004
NM_001723.7(DST):c.3370C>T (p.Gln1124Ter) rs201045495 0.00004
NM_001845.6(COL4A1):c.1420G>A (p.Gly474Arg) rs752346924 0.00004
NM_001845.6(COL4A1):c.2351C>T (p.Pro784Leu) rs372750171 0.00004
NM_001845.6(COL4A1):c.4640+3G>T rs770167198 0.00004
NM_001854.4(COL11A1):c.173C>T (p.Thr58Met) rs770162224 0.00004
NM_001854.4(COL11A1):c.3227G>A (p.Arg1076His) rs148464130 0.00004
NM_001909.5(CTSD):c.470C>T (p.Ser157Leu) rs587779409 0.00004
NM_002230.4(JUP):c.694G>A (p.Val232Ile) rs137989964 0.00004
NM_002473.6(MYH9):c.3320G>A (p.Arg1107Gln) rs137924205 0.00004
NM_002528.7(NTHL1):c.782G>A (p.Trp261Ter) rs753029097 0.00004
NM_002633.3(PGM1):c.988G>C (p.Gly330Arg) rs777164338 0.00004
NM_002637.4(PHKA1):c.778C>T (p.Leu260Phe) rs781803498 0.00004
NM_003126.4(SPTA1):c.2029A>G (p.Lys677Glu) rs761960429 0.00004
NM_003126.4(SPTA1):c.2588-3T>C rs375142282 0.00004
NM_003126.4(SPTA1):c.326C>T (p.Ser109Phe) rs3737521 0.00004
NM_003159.3(CDKL5):c.2941C>G (p.Arg981Gly) rs374054249 0.00004
NM_003359.4(UGDH):c.131C>T (p.Ala44Val) rs749975104 0.00004
NM_003482.4(KMT2D):c.1075C>T (p.Arg359Cys) rs372085797 0.00004
NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys) rs72549395 0.00004
NM_003865.3(HESX1):c.475C>T (p.Arg159Trp) rs770886420 0.00004
NM_003919.3(SGCE):c.139G>A (p.Asp47Asn) rs199787155 0.00004
NM_003982.4(SLC7A7):c.625+1G>A rs386833822 0.00004
NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter) rs201217593 0.00004
NM_004006.3(DMD):c.2252G>A (p.Arg751Gln) rs747802164 0.00004
NM_004006.3(DMD):c.3217G>A (p.Glu1073Lys) rs398123931 0.00004
NM_004006.3(DMD):c.3921+12A>G rs760373690 0.00004
NM_004006.3(DMD):c.5464G>A (p.Gly1822Ser) rs766746479 0.00004
NM_004006.3(DMD):c.9091G>A (p.Val3031Ile) rs143426249 0.00004
NM_004092.4(ECHS1):c.538A>G (p.Thr180Ala) rs557128093 0.00004
NM_004268.5(MED17):c.1597C>T (p.Gln533Ter) rs752341132 0.00004
NM_004281.4(BAG3):c.34G>A (p.Val12Met) rs367917821 0.00004
NM_004304.5(ALK):c.32C>T (p.Pro11Leu) rs767822322 0.00004
NM_004333.6(BRAF):c.915G>A (p.Ala305=) rs145675911 0.00004
NM_004369.4(COL6A3):c.2745C>T (p.Asn915=) rs749992393 0.00004
NM_004370.6(COL12A1):c.3782G>A (p.Ser1261Asn) rs370339027 0.00004
NM_004370.6(COL12A1):c.4962C>T (p.Pro1654=) rs771078518 0.00004
NM_004370.6(COL12A1):c.5134G>A (p.Glu1712Lys) rs778415707 0.00004
NM_004425.4(ECM1):c.1019del (p.Gln340fs) rs778473713 0.00004
NM_004655.4(AXIN2):c.2083G>T (p.Ala695Ser) rs140510381 0.00004
NM_004826.4(ECEL1):c.494T>C (p.Leu165Pro) rs765305996 0.00004
NM_004937.3(CTNS):c.473T>C (p.Leu158Pro) rs113994206 0.00004
NM_004946.3(DOCK2):c.44-9G>A rs778542070 0.00004
NM_004975.4(KCNB1):c.2009G>A (p.Arg670Gln) rs753575587 0.00004
NM_004975.4(KCNB1):c.2092C>T (p.Arg698Trp) rs779379680 0.00004
NM_005188.4(CBL):c.1477C>T (p.Leu493Phe) rs730880434 0.00004
NM_005334.3(HCFC1):c.3495G>C (p.Gln1165His) rs373327413 0.00004
NM_005476.7(GNE):c.598A>T (p.Ile200Phe) rs369328625 0.00004
NM_005476.7(GNE):c.647T>C (p.Val216Ala) rs779694939 0.00004
NM_005529.7(HSPG2):c.7407G>A (p.Thr2469=) rs200462415 0.00004
NM_005529.7(HSPG2):c.8164G>A (p.Ala2722Thr) rs201508804 0.00004
NM_005591.4(MRE11):c.1015A>T (p.Lys339Ter) rs984874083 0.00004
NM_005609.4(PYGM):c.1466C>G (p.Pro489Arg) rs398124209 0.00004
NM_005609.4(PYGM):c.808C>T (p.Arg270Ter) rs767739769 0.00004
NM_005633.4(SOS1):c.115G>A (p.Glu39Lys) rs375934353 0.00004
NM_005726.6(TSFM):c.944G>A (p.Cys315Tyr) rs587777688 0.00004
NM_005989.4(AKR1D1):c.797G>A (p.Arg266Gln) rs182820353 0.00004
NM_006005.3(WFS1):c.1774C>G (p.Leu592Val) rs759136937 0.00004
NM_006206.6(PDGFRA):c.2897A>G (p.His966Arg) rs200042995 0.00004
NM_006214.4(PHYH):c.497-2A>G rs144169488 0.00004
NM_006231.4(POLE):c.6539C>T (p.Ala2180Val) rs552452448 0.00004
NM_006493.4(CLN5):c.524G>A (p.Trp175Ter) rs386833980 0.00004
NM_006516.4(SLC2A1):c.758G>A (p.Arg253Gln) rs777498634 0.00004
NM_006846.4(SPINK5):c.891C>T (p.Cys297=) rs752941297 0.00004
NM_006907.4(PYCR1):c.535G>A (p.Ala179Thr) rs139751598 0.00004
NM_006922.4(SCN3A):c.928A>T (p.Met310Leu) rs776260027 0.00004
NM_013266.4(CTNNA3):c.2404G>T (p.Asp802Tyr) rs530727340 0.00004
NM_013339.4(ALG6):c.618C>T (p.His206=) rs374336458 0.00004
NM_014159.7(SETD2):c.2849G>A (p.Arg950His) rs149265978 0.00004
NM_014270.5(SLC7A9):c.997C>T (p.Arg333Trp) rs121908484 0.00004
NM_014363.6(SACS):c.8315G>C (p.Gly2772Ala) rs763504656 0.00004
NM_014384.3(ACAD8):c.409G>A (p.Gly137Arg) rs371449613 0.00004
NM_014444.5(TUBGCP4):c.579dup (p.Gly194fs) rs794726855 0.00004
NM_014727.3(KMT2B):c.3769C>T (p.Arg1257Cys) rs956016804 0.00004
NM_015046.7(SETX):c.3968G>A (p.Arg1323Gln) rs369542231 0.00004
NM_016103.4(SAR1B):c.409G>A (p.Asp137Asn) rs28942109 0.00004
NM_016343.4(CENPF):c.6214T>C (p.Ser2072Pro) rs3748694 0.00004
NM_016955.4(SEPSECS):c.846G>A (p.Leu282=) rs146539065 0.00004
NM_017617.5(NOTCH1):c.2576C>T (p.Thr859Met) rs199505287 0.00004
NM_017739.4(POMGNT1):c.1469G>A (p.Cys490Tyr) rs267606960 0.00004
NM_017780.4(CHD7):c.6107C>T (p.Pro2036Leu) rs369543203 0.00004
NM_018082.6(POLR3B):c.2303G>A (p.Arg768His) rs267608687 0.00004
NM_018834.6(MATR3):c.1778+3A>G rs568895329 0.00004
NM_019892.6(INPP5E):c.1897C>G (p.Gln633Glu) rs763184652 0.00004
NM_020166.5(MCCC1):c.137G>A (p.Gly46Glu) rs199517715 0.00004
NM_020549.5(CHAT):c.1669G>A (p.Ala557Thr) rs372760913 0.00004
NM_020822.3(KCNT1):c.3289G>A (p.Gly1097Ser) rs199779214 0.00004
NM_021942.6(TRAPPC11):c.1287+5G>A rs397509418 0.00004
NM_021971.4(GMPPB):c.656T>C (p.Ile219Thr) rs761714818 0.00004
NM_022081.6(HPS4):c.649C>T (p.Arg217Ter) rs119471023 0.00004
NM_022132.5(MCCC2):c.463C>T (p.Arg155Trp) rs141030969 0.00004
NM_022173.4(TIA1):c.1006G>A (p.Gly336Ser) rs200963371 0.00004
NM_022437.3(ABCG8):c.1106A>T (p.Asp369Val) rs148185316 0.00004
NM_024009.3(GJB3):c.499G>A (p.Val167Met) rs376748531 0.00004
NM_024301.5(FKRP):c.328C>T (p.Arg110Trp) rs758759348 0.00004
NM_024301.5(FKRP):c.899T>C (p.Val300Ala) rs104894691 0.00004
NM_024334.3(TMEM43):c.1026C>A (p.Asp342Glu) rs376514478 0.00004
NM_024596.5(MCPH1):c.2221C>T (p.Arg741Ter) rs374596700 0.00004
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp) rs768933093 0.00004
NM_024876.4(COQ8B):c.532C>T (p.Arg178Trp) rs398122978 0.00004
NM_025132.4(WDR19):c.781dup (p.Thr261fs) rs748656635 0.00004
NM_030662.4(MAP2K2):c.281C>T (p.Ser94Leu) rs202220799 0.00004
NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro) rs149364097 0.00004
NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys) rs752309409 0.00004
NM_032043.3(BRIP1):c.778A>G (p.Thr260Ala) rs138743097 0.00004
NM_032578.4(MYPN):c.578A>G (p.Gln193Arg) rs573684358 0.00004
NM_032581.4(HYCC1):c.125dup (p.Tyr42Ter) rs780540757 0.00004
NM_032634.3(PIGO):c.3069+5G>A rs368953604 0.00004
NM_033305.3(VPS13A):c.3889C>T (p.Arg1297Ter) rs200280742 0.00004
NM_033380.3(COL4A5):c.443C>T (p.Pro148Leu) rs773404950 0.00004
NM_033629.6(TREX1):c.290G>A (p.Arg97His) rs200773268 0.00004
NM_054012.4(ASS1):c.1087C>T (p.Arg363Trp) rs121908640 0.00004
NM_054012.4(ASS1):c.787G>A (p.Val263Met) rs192838388 0.00004
NM_054012.4(ASS1):c.892del (p.Glu298fs) rs770362721 0.00004
NM_058246.4(DNAJB6):c.404G>A (p.Arg135Gln) rs772121051 0.00004
NM_080680.3(COL11A2):c.4516A>G (p.Ile1506Val) rs772312309 0.00004
NM_080680.3(COL11A2):c.544G>A (p.Val182Ile) rs375937729 0.00004
NM_130468.4(CHST14):c.315G>A (p.Arg105=) rs903042632 0.00004
NM_130837.3(OPA1):c.253C>T (p.Arg85Cys) rs372435892 0.00004
NM_133642.5(LARGE1):c.259C>A (p.Gln87Lys) rs373853930 0.00004
NM_138413.4(HOGA1):c.769T>G (p.Cys257Gly) rs267606764 0.00004
NM_138694.4(PKHD1):c.11665+1G>A rs759851475 0.00004
NM_138694.4(PKHD1):c.5825A>G (p.Asp1942Gly) rs1210846081 0.00004
NM_145117.5(NAV2):c.1454A>G (p.Asn485Ser) rs548877132 0.00004
NM_145239.3(PRRT2):c.352G>A (p.Ala118Thr) rs201636905 0.00004
NM_152490.5(B3GALNT2):c.979G>A (p.Asp327Asn) rs753340395 0.00004
NM_153006.3(NAGS):c.1292C>T (p.Thr431Ile) rs761558985 0.00004
NM_153704.6(TMEM67):c.1319G>A (p.Arg440Gln) rs386834182 0.00004
NM_153766.3(KCNJ1):c.601C>T (p.Leu201Phe) rs200320892 0.00004
NM_170707.4(LMNA):c.1376A>G (p.Asn459Ser) rs372011095 0.00004
NM_170707.4(LMNA):c.1580G>A (p.Arg527His) rs57520892 0.00004
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg) rs397517901 0.00004
NM_173689.7(CRB2):c.2416G>A (p.Val806Ile) rs560877883 0.00004
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly) rs121908143 0.00004
NM_182914.3(SYNE2):c.12151C>G (p.Gln4051Glu) rs149546014 0.00004
NM_182914.3(SYNE2):c.15028A>G (p.Ser5010Gly) rs754937863 0.00004
NM_182914.3(SYNE2):c.17723G>A (p.Arg5908His) rs538344879 0.00004
NM_182914.3(SYNE2):c.5575A>G (p.Lys1859Glu) rs201327410 0.00004
NM_182925.5(FLT4):c.521C>T (p.Ser174Leu) rs773696166 0.00004
NM_182961.4(SYNE1):c.20556A>G (p.Gln6852=) rs147173664 0.00004
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys) rs62635654 0.00004
NM_201384.3(PLEC):c.11291C>T (p.Ala3764Val) rs368803763 0.00004
NM_201384.3(PLEC):c.11605G>A (p.Gly3869Ser) rs782123116 0.00004
NM_201384.3(PLEC):c.11638G>A (p.Ala3880Thr) rs541209817 0.00004
NM_201384.3(PLEC):c.5115G>A (p.Ala1705=) rs782757364 0.00004
NM_201384.3(PLEC):c.5555C>T (p.Ala1852Val) rs782360547 0.00004
NM_201384.3(PLEC):c.6241G>A (p.Gly2081Ser) rs782450868 0.00004
NM_201384.3(PLEC):c.6343G>A (p.Glu2115Lys) rs782713908 0.00004
NM_201384.3(PLEC):c.6427G>A (p.Glu2143Lys) rs782305250 0.00004
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850 0.00004
NM_206933.4(USH2A):c.14871G>C (p.Leu4957=) rs748007443 0.00004
NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg) rs368687374 0.00004
NM_213599.3(ANO5):c.2521C>G (p.His841Asp) rs781027702 0.00004
NC_000011.10:g.5227172G>A rs63751208 0.00003
NM_000016.6(ACADM):c.1045C>T (p.Arg349Ter) rs148207467 0.00003
NM_000016.6(ACADM):c.443G>A (p.Arg148Lys) rs778906552 0.00003
NM_000016.6(ACADM):c.928G>A (p.Gly310Arg) rs747268471 0.00003
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys) rs771874163 0.00003
NM_000018.4(ACADVL):c.1226C>T (p.Thr409Met) rs113994169 0.00003
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln) rs751995154 0.00003
NM_000018.4(ACADVL):c.1711G>A (p.Gly571Arg) rs398123085 0.00003
NM_000018.4(ACADVL):c.1748C>G (p.Ser583Trp) rs1085307648 0.00003
NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp) rs118204014 0.00003
NM_000018.4(ACADVL):c.1838G>A (p.Arg613Gln) rs534647044 0.00003
NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser) rs199524907 0.00003
NM_000019.4(ACAT1):c.967A>G (p.Ile323Val) rs1282394804 0.00003
NM_000022.4(ADA):c.715G>A (p.Gly239Ser) rs777820729 0.00003
NM_000023.4(SGCA):c.293G>A (p.Arg98His) rs137852621 0.00003
NM_000023.4(SGCA):c.34G>A (p.Val12Met) rs766209304 0.00003
NM_000023.4(SGCA):c.371T>C (p.Ile124Thr) rs768814872 0.00003
NM_000023.4(SGCA):c.518T>C (p.Leu173Pro) rs143962150 0.00003
NM_000026.4(ADSL):c.736A>G (p.Lys246Glu) rs119450944 0.00003
NM_000030.3(AGXT):c.568G>A (p.Gly190Arg) rs180177239 0.00003
NM_000030.3(AGXT):c.847-3C>G rs180177286 0.00003
NM_000038.6(APC):c.647G>A (p.Arg216Gln) rs76685252 0.00003
NM_000045.4(ARG1):c.383A>G (p.Asp128Gly) rs140549609 0.00003
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter) rs80338714 0.00003
NM_000048.4(ASL):c.1367G>A (p.Arg456Gln) rs767271619 0.00003
NM_000049.4(ASPA):c.79G>A (p.Gly27Arg) rs766328537 0.00003
NM_000051.4(ATM):c.5882A>G (p.Tyr1961Cys) rs56399311 0.00003
NM_000053.4(ATP7B):c.2484C>T (p.Gly828=) rs570594838 0.00003
NM_000053.4(ATP7B):c.2804C>T (p.Thr935Met) rs750019452 0.00003
NM_000053.4(ATP7B):c.3809A>G (p.Asn1270Ser) rs121907990 0.00003
NM_000053.4(ATP7B):c.3818C>T (p.Pro1273Leu) rs758355520 0.00003
NM_000057.4(BLM):c.3210+2del rs587779886 0.00003
NM_000059.4(BRCA2):c.9586A>G (p.Lys3196Glu) rs80359228 0.00003
NM_000069.3(CACNA1S):c.1591C>T (p.Arg531Cys) rs751671175 0.00003
NM_000069.3(CACNA1S):c.2956C>T (p.Arg986Cys) rs770099347 0.00003
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu) rs749863676 0.00003
NM_000070.3(CAPN3):c.1477C>T (p.Arg493Trp) rs557164942 0.00003
NM_000071.3(CBS):c.1135C>T (p.Arg379Trp) rs769080151 0.00003
NM_000071.3(CBS):c.374G>A (p.Arg125Gln) rs781444670 0.00003
NM_000079.4(CHRNA1):c.235-323G>A rs750955953 0.00003
NM_000081.4(LYST):c.5674A>G (p.Met1892Val) rs200512692 0.00003
NM_000083.3(CLCN1):c.1013G>A (p.Arg338Gln) rs80356703 0.00003
NM_000083.3(CLCN1):c.1167-10T>C rs543120965 0.00003
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser) rs774843953 0.00003
NM_000083.3(CLCN1):c.2596-1G>A rs771721648 0.00003
NM_000083.3(CLCN1):c.2864A>T (p.Glu955Val) rs150796358 0.00003
NM_000083.3(CLCN1):c.826G>A (p.Gly276Ser) rs765181341 0.00003
NM_000083.3(CLCN1):c.854G>A (p.Gly285Glu) rs150885084 0.00003
NM_000091.5(COL4A3):c.1450G>A (p.Gly484Arg) rs777401300 0.00003
NM_000092.5(COL4A4):c.3676C>T (p.Arg1226Cys) rs769191749 0.00003
NM_000093.5(COL5A1):c.774T>C (p.Asn258=) rs199742873 0.00003
NM_000098.3(CPT2):c.1511C>T (p.Pro504Leu) rs368311455 0.00003
NM_000110.4(DPYD):c.187A>G (p.Lys63Glu) rs367619008 0.00003
NM_000124.4(ERCC6):c.1526+1G>T rs371739894 0.00003
NM_000128.4(F11):c.1489C>T (p.Arg497Ter) rs375422404 0.00003
NM_000135.4(FANCA):c.3610C>T (p.Arg1204Trp) rs759303096 0.00003
NM_000135.4(FANCA):c.361G>A (p.Val121Met) rs780035612 0.00003
NM_000135.4(FANCA):c.4015del (p.Leu1339fs) rs762902309 0.00003
NM_000137.4(FAH):c.880A>C (p.Thr294Pro) rs370634385 0.00003
NM_000138.5(FBN1):c.8224G>A (p.Glu2742Lys) rs750199580 0.00003
NM_000152.5(GAA):c.1326+1G>A rs1205507761 0.00003
NM_000152.5(GAA):c.2105G>A (p.Arg702His) rs398123172 0.00003
NM_000152.5(GAA):c.2132C>G (p.Thr711Arg) rs759292700 0.00003
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys) rs144016984 0.00003
NM_000152.5(GAA):c.2455C>T (p.Arg819Trp) rs61736895 0.00003
NM_000152.5(GAA):c.925G>A (p.Gly309Arg) rs543300039 0.00003
NM_000153.4(GALC):c.850G>A (p.Gly284Ser) rs377274761 0.00003
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys) rs111033814 0.00003
NM_000155.4(GALT):c.292G>A (p.Asp98Asn) rs111033670 0.00003
NM_000157.4(GBA1):c.437C>T (p.Ser146Leu) rs758447515 0.00003
NM_000157.4(GBA1):c.667T>C (p.Trp223Arg) rs61748906 0.00003
NM_000157.4(GBA1):c.721G>A (p.Gly241Arg) rs409652 0.00003
NM_000159.4(GCDH):c.743C>T (p.Pro248Leu) rs1057516344 0.00003
NM_000159.4(GCDH):c.769C>T (p.Arg257Trp) rs766518430 0.00003
NM_000170.3(GLDC):c.2665+1G>C rs149070244 0.00003
NM_000170.3(GLDC):c.2714T>G (p.Val905Gly) rs188269735 0.00003
NM_000170.3(GLDC):c.911C>T (p.Pro304Leu) rs1207147043 0.00003
NM_000175.5(GPI):c.1336C>T (p.Arg446Ter) rs774419705 0.00003
NM_000179.3(MSH6):c.1870G>A (p.Gly624Ser) rs868760377 0.00003
NM_000202.8(IDS):c.1373G>A (p.Arg458His) rs782697859 0.00003
NM_000202.8(IDS):c.684A>G (p.Pro228=) rs782561677 0.00003
NM_000203.5(IDUA):c.1487C>T (p.Pro496Leu) rs772416503 0.00003
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg) rs121965021 0.00003
NM_000211.5(ITGB2):c.850G>A (p.Gly284Ser) rs137852616 0.00003
NM_000215.4(JAK3):c.2680+3G>C rs749481781 0.00003
NM_000238.4(KCNH2):c.2843G>A (p.Arg948His) rs199473011 0.00003
NM_000255.4(MMUT):c.1084-10A>G rs777031588 0.00003
NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln) rs2856655 0.00003
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys) rs2754158 0.00003
NM_000257.4(MYH7):c.2922+3A>G rs1227114881 0.00003
NM_000257.4(MYH7):c.611G>A (p.Arg204His) rs397516260 0.00003
NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu) rs104894595 0.00003
NM_000264.5(PTCH1):c.3629C>T (p.Pro1210Leu) rs781062564 0.00003
NM_000271.5(NPC1):c.2474A>G (p.Tyr825Cys) rs550562774 0.00003
NM_000277.3(PAH):c.157C>T (p.Arg53Cys) rs199475619 0.00003
NM_000277.3(PAH):c.516G>T (p.Gln172His) rs192592111 0.00003
NM_000298.6(PKLR):c.257G>A (p.Arg86His) rs375471342 0.00003
NM_000298.6(PKLR):c.401T>A (p.Val134Asp) rs574051756 0.00003
NM_000298.6(PKLR):c.994_1003dup (p.Val335fs) rs1356806251 0.00003
NM_000317.3(PTS):c.370G>T (p.Val124Leu) rs150726932 0.00003
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr) rs80338958 0.00003
NM_000334.4(SCN4A):c.4378C>T (p.Arg1460Trp) rs368256039 0.00003
NM_000335.5(SCN5A):c.1127G>A (p.Arg376His) rs199473101 0.00003
NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val) rs199473220 0.00003
NM_000342.4(SLC4A1):c.1937G>A (p.Arg646Gln) rs121912757 0.00003
NM_000342.4(SLC4A1):c.538C>T (p.Arg180Cys) rs749020872 0.00003
NM_000342.4(SLC4A1):c.877-3dup rs747181893 0.00003
NM_000350.3(ABCA4):c.1609C>T (p.Arg537Cys) rs61748556 0.00003
NM_000352.6(ABCC8):c.1484G>A (p.Arg495Gln) rs1420601296 0.00003
NM_000352.6(ABCC8):c.313C>T (p.His105Tyr) rs766068851 0.00003
NM_000352.6(ABCC8):c.4198G>A (p.Gly1400Arg) rs137852676 0.00003
NM_000359.3(TGM1):c.1469A>G (p.Asp490Gly) rs121918724 0.00003
NM_000359.3(TGM1):c.968G>A (p.Arg323Gln) rs121918717 0.00003
NM_000375.3(UROS):c.661-31T>G rs750180293 0.00003
NM_000375.3(UROS):c.683C>T (p.Thr228Met) rs121908014 0.00003
NM_000382.3(ALDH3A2):c.551C>T (p.Thr184Met) rs72547562 0.00003
NM_000400.4(ERCC2):c.1801C>T (p.Arg601Trp) rs753641926 0.00003
NM_000400.4(ERCC2):c.718+8G>A rs543196752 0.00003
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) rs5030869 0.00003
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe) rs137852342 0.00003
NM_000426.4(LAMA2):c.2451-2A>G rs993196576 0.00003
NM_000426.4(LAMA2):c.4471G>A (p.Asp1491Asn) rs375640462 0.00003
NM_000441.2(SLC26A4):c.2171A>G (p.Asp724Gly) rs757820624 0.00003
NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr) rs542620119 0.00003
NM_000443.4(ABCB4):c.3481C>T (p.Pro1161Ser) rs121918442 0.00003
NM_000465.4(BARD1):c.1216C>T (p.Arg406Ter) rs377153250 0.00003
NM_000485.3(APRT):c.250G>A (p.Val84Met) rs200392753 0.00003
NM_000487.6(ARSA):c.736C>T (p.Arg246Cys) rs74315470 0.00003
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu) rs368505753 0.00003
NM_000492.4(CFTR):c.2939T>A (p.Ile980Lys) rs397508463 0.00003
NM_000512.5(GALNS):c.871G>A (p.Ala291Thr) rs118204448 0.00003
NM_000518.5(HBB):c.316-106C>G rs34690599 0.00003
NM_000518.5(HBB):c.50G>A (p.Gly17Asp) rs33962676 0.00003
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys) rs764552042 0.00003
NM_000527.5(LDLR):c.1247G>A (p.Arg416Gln) rs773658037 0.00003
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg) rs144614838 0.00003
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr) rs730882109 0.00003
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu) rs137929307 0.00003
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys) rs746118995 0.00003
NM_000527.5(LDLR):c.232C>T (p.Arg78Cys) rs370860696 0.00003
NM_000527.5(LDLR):c.2375T>C (p.Ile792Thr) rs764493597 0.00003
NM_000527.5(LDLR):c.514G>A (p.Asp172Asn) rs879254554 0.00003
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu) rs121908026 0.00003
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly) rs373822756 0.00003
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter) rs121908029 0.00003
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys) rs768563000 0.00003
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys) rs368657165 0.00003
NM_000540.3(RYR1):c.10229C>T (p.Pro3410Leu) rs769196275 0.00003
NM_000540.3(RYR1):c.10619A>T (p.Tyr3540Phe) rs752477271 0.00003
NM_000540.3(RYR1):c.1211A>G (p.His404Arg) rs561546643 0.00003
NM_000540.3(RYR1):c.1318G>A (p.Val440Ile) rs763251588 0.00003
NM_000540.3(RYR1):c.13691G>A (p.Arg4564Gln) rs864309559 0.00003
NM_000540.3(RYR1):c.1589G>A (p.Arg530His) rs111888148 0.00003
NM_000540.3(RYR1):c.4339G>A (p.Val1447Met) rs370851779 0.00003
NM_000540.3(RYR1):c.5120G>A (p.Arg1707His) rs371566475 0.00003
NM_000540.3(RYR1):c.5340_5341del (p.Cys1781fs) rs779723153 0.00003
NM_000540.3(RYR1):c.614G>C (p.Cys205Ser) rs201834803 0.00003
NM_000540.3(RYR1):c.6211C>T (p.Arg2071Trp) rs147441124 0.00003
NM_000540.3(RYR1):c.7099G>A (p.Ala2367Thr) rs146306934 0.00003
NM_000540.3(RYR1):c.7244G>A (p.Arg2415Gln) rs201584482 0.00003
NM_000540.3(RYR1):c.7771C>G (p.Arg2591Gly) rs193922822 0.00003
NM_000540.3(RYR1):c.8820C>A (p.Gly2940=) rs951057994 0.00003
NM_000540.3(RYR1):c.9892G>A (p.Ala3298Thr) rs544339193 0.00003
NM_000540.3(RYR1):c.9895G>A (p.Gly3299Ser) rs372203483 0.00003
NM_000543.5(SMPD1):c.730G>A (p.Gly244Arg) rs120074122 0.00003
NM_000548.5(TSC2):c.673G>A (p.Val225Met) rs142919353 0.00003
NM_000549.5(TSHB):c.205C>T (p.Gln69Ter) rs121918670 0.00003
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter) rs387906244 0.00003
NM_000709.4(BCKDHA):c.288+9C>T rs398123497 0.00003
NM_000709.4(BCKDHA):c.890G>A (p.Arg297His) rs200137189 0.00003
NM_000719.7(CACNA1C):c.5098G>A (p.Gly1700Ser) rs761966966 0.00003
NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg) rs374528680 0.00003
NM_000751.3(CHRND):c.646C>T (p.Arg216Trp) rs777271963 0.00003
NM_000784.4(CYP27A1):c.2T>C (p.Met1Thr) rs759003992 0.00003
NM_000969.5(RPL5):c.426C>G (p.Phe142Leu) rs11540836 0.00003
NM_001003722.2(GLE1):c.241C>T (p.Gln81Ter) rs772765696 0.00003
NM_001009944.3(PKD1):c.12864C>G (p.Ser4288Arg) rs536050342 0.00003
NM_001010867.4(IBA57):c.316del (p.Thr106fs) rs757794637 0.00003
NM_001018115.3(FANCD2):c.2605+1G>A rs142365855 0.00003
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp) rs104894718 0.00003
NM_001048174.2(MUTYH):c.1393G>T (p.Val465Phe) rs587782228 0.00003
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys) rs747993448 0.00003
NM_001077365.2(POMT1):c.1892C>T (p.Pro631Leu) rs149682171 0.00003
NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter) rs537001725 0.00003
NM_001081.4(CUBN):c.6088C>T (p.Arg2030Ter) rs374417889 0.00003
NM_001082971.2(DDC):c.1040G>A (p.Arg347Gln) rs201951824 0.00003
NM_001101426.4(CRPPA):c.933+3A>G rs377582530 0.00003
NM_001103.4(ACTN2):c.556C>T (p.Leu186Phe) rs371930065 0.00003
NM_001110556.2(FLNA):c.5876G>A (p.Arg1959His) rs1198953814 0.00003
NM_001110792.2(MECP2):c.1364C>T (p.Ala455Val) rs375101073 0.00003
NM_001111.5(ADAR):c.3289C>A (p.His1097Asn) rs200537032 0.00003
NM_001126108.2(SLC12A3):c.1387G>A (p.Gly463Arg) rs374163823 0.00003
NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro) rs28931569 0.00003
NM_001130438.3(SPTAN1):c.1339G>A (p.Glu447Lys) rs767067922 0.00003
NM_001130823.3(DNMT1):c.3255C>T (p.Pro1085=) rs375882181 0.00003
NM_001130987.2(DYSF):c.3169C>T (p.Arg1057Trp) rs760443264 0.00003
NM_001130987.2(DYSF):c.5420G>A (p.Arg1807Gln) rs148860301 0.00003
NM_001134407.3(GRIN2A):c.3787G>A (p.Gly1263Arg) rs142113044 0.00003
NM_001134407.3(GRIN2A):c.3854G>A (p.Arg1285Lys) rs367543132 0.00003
NM_001142800.2(EYS):c.7228+1G>A rs758899480 0.00003
NM_001142800.2(EYS):c.8411dup (p.Thr2805fs) rs763028732 0.00003
NM_001142800.2(EYS):c.91G>A (p.Glu31Lys) rs572189652 0.00003
NM_001142864.4(PIEZO1):c.1646C>T (p.Thr549Met) rs775326454 0.00003
NM_001142864.4(PIEZO1):c.2152G>A (p.Gly718Ser) rs755885744 0.00003
NM_001142864.4(PIEZO1):c.308G>A (p.Arg103Gln) rs951851993 0.00003
NM_001142864.4(PIEZO1):c.359G>A (p.Arg120Gln) rs1180628646 0.00003
NM_001142864.4(PIEZO1):c.439C>T (p.Arg147Trp) rs763040081 0.00003
NM_001142864.4(PIEZO1):c.4640G>A (p.Arg1547His) rs866069095 0.00003
NM_001142864.4(PIEZO1):c.6356G>A (p.Arg2119Gln) rs1403034076 0.00003
NM_001142864.4(PIEZO1):c.766G>A (p.Gly256Ser) rs1226821306 0.00003
NM_001145358.2(SIN3A):c.2783G>A (p.Arg928Gln) rs367989965 0.00003
NM_001148.6(ANK2):c.5588C>T (p.Thr1863Met) rs536962908 0.00003
NM_001164508.2(NEB):c.11910+1G>A rs774495973 0.00003
NM_001164508.2(NEB):c.19836+1G>A rs1446930968 0.00003
NM_001164508.2(NEB):c.6513T>C (p.Asp2171=) rs376535906 0.00003
NM_001167.4(XIAP):c.1075A>G (p.Thr359Ala) rs377097035 0.00003
NM_001171.6(ABCC6):c.1256G>A (p.Arg419Gln) rs772434460 0.00003
NM_001171.6(ABCC6):c.1769C>T (p.Ser590Phe) rs537233133 0.00003
NM_001171.6(ABCC6):c.179G>A (p.Arg60Gln) rs183648123 0.00003
NM_001171.6(ABCC6):c.3904G>A (p.Gly1302Arg) rs63749856 0.00003
NM_001174150.2(ARL13B):c.1007G>A (p.Arg336Gln) rs550306731 0.00003
NM_001182.5(ALDH7A1):c.1547A>G (p.Tyr516Cys) rs200102503 0.00003
NM_001199397.3(NEK1):c.1226G>A (p.Trp409Ter) rs985064686 0.00003
NM_001242896.3(DEPDC5):c.2010C>A (p.His670Gln) rs752274547 0.00003
NM_001267550.2(TTN):c.100295G>A (p.Arg33432His) rs374876608 0.00003
NM_001267550.2(TTN):c.10046C>T (p.Thr3349Ile) rs727503678 0.00003
NM_001267550.2(TTN):c.100534A>T (p.Asn33512Tyr) rs778965506 0.00003
NM_001267550.2(TTN):c.100642T>C (p.Phe33548Leu) rs773561397 0.00003
NM_001267550.2(TTN):c.100662G>A (p.Gln33554=) rs1036339690 0.00003
NM_001267550.2(TTN):c.103580T>C (p.Ile34527Thr) rs370618537 0.00003
NM_001267550.2(TTN):c.103946G>A (p.Arg34649Gln) rs397517788 0.00003
NM_001267550.2(TTN):c.104179A>G (p.Arg34727Gly) rs555555534 0.00003
NM_001267550.2(TTN):c.104812C>T (p.Leu34938=) rs755726554 0.00003
NM_001267550.2(TTN):c.105141G>A (p.Glu35047=) rs752897450 0.00003
NM_001267550.2(TTN):c.105182C>T (p.Ala35061Val) rs762136167 0.00003
NM_001267550.2(TTN):c.105374C>T (p.Thr35125Met) rs747161494 0.00003
NM_001267550.2(TTN):c.105642C>A (p.Phe35214Leu) rs560557634 0.00003
NM_001267550.2(TTN):c.107450C>T (p.Ser35817Leu) rs766440492 0.00003
NM_001267550.2(TTN):c.107591T>C (p.Val35864Ala) rs374859388 0.00003
NM_001267550.2(TTN):c.1175C>T (p.Ala392Val) rs779169850 0.00003
NM_001267550.2(TTN):c.1288G>A (p.Val430Ile) rs371639583 0.00003
NM_001267550.2(TTN):c.15634G>A (p.Gly5212Arg) rs377754692 0.00003
NM_001267550.2(TTN):c.15922C>T (p.Arg5308Ter) rs886042995 0.00003
NM_001267550.2(TTN):c.16126C>A (p.Leu5376Met) rs72648936 0.00003
NM_001267550.2(TTN):c.18267T>A (p.Asp6089Glu) rs754848806 0.00003
NM_001267550.2(TTN):c.19162G>A (p.Val6388Ile) rs550617268 0.00003
NM_001267550.2(TTN):c.19922C>A (p.Thr6641Asn) rs747240394 0.00003
NM_001267550.2(TTN):c.19963G>A (p.Asp6655Asn) rs397517493 0.00003
NM_001267550.2(TTN):c.21189G>A (p.Leu7063=) rs758622900 0.00003
NM_001267550.2(TTN):c.21332T>C (p.Met7111Thr) rs374408615 0.00003
NM_001267550.2(TTN):c.2138G>A (p.Arg713Gln) rs761383124 0.00003
NM_001267550.2(TTN):c.22628C>T (p.Pro7543Leu) rs560272834 0.00003
NM_001267550.2(TTN):c.22942G>A (p.Glu7648Lys) rs397517502 0.00003
NM_001267550.2(TTN):c.2301A>G (p.Arg767=) rs746831560 0.00003
NM_001267550.2(TTN):c.24833G>C (p.Gly8278Ala) rs778611558 0.00003
NM_001267550.2(TTN):c.24905C>A (p.Thr8302Lys) rs549604128 0.00003
NM_001267550.2(TTN):c.25180T>G (p.Tyr8394Asp) rs898098652 0.00003
NM_001267550.2(TTN):c.25829A>G (p.His8610Arg) rs561059250 0.00003
NM_001267550.2(TTN):c.2605A>T (p.Thr869Ser) rs370962244 0.00003
NM_001267550.2(TTN):c.26893G>A (p.Glu8965Lys) rs200325324 0.00003
NM_001267550.2(TTN):c.27350G>C (p.Arg9117Thr) rs375907742 0.00003
NM_001267550.2(TTN):c.27676T>C (p.Cys9226Arg) rs372820178 0.00003
NM_001267550.2(TTN):c.28262C>T (p.Thr9421Met) rs375209383 0.00003
NM_001267550.2(TTN):c.28299C>G (p.Asp9433Glu) rs372608982 0.00003
NM_001267550.2(TTN):c.2998C>T (p.Leu1000Phe) rs140953779 0.00003
NM_001267550.2(TTN):c.30702G>A (p.Lys10234=) rs573246972 0.00003
NM_001267550.2(TTN):c.31841C>A (p.Ala10614Asp) rs376754004 0.00003
NM_001267550.2(TTN):c.34675A>G (p.Ile11559Val) rs752903377 0.00003
NM_001267550.2(TTN):c.35083G>A (p.Glu11695Lys) rs376117402 0.00003
NM_001267550.2(TTN):c.35249T>C (p.Ile11750Thr) rs398124447 0.00003
NM_001267550.2(TTN):c.3549C>T (p.Ser1183=) rs764819788 0.00003
NM_001267550.2(TTN):c.3913G>T (p.Gly1305Trp) rs199889888 0.00003
NM_001267550.2(TTN):c.39493G>A (p.Glu13165Lys) rs747566528 0.00003
NM_001267550.2(TTN):c.40963G>T (p.Glu13655Ter) rs727504198 0.00003
NM_001267550.2(TTN):c.422G>A (p.Gly141Glu) rs750730828 0.00003
NM_001267550.2(TTN):c.44349C>T (p.Phe14783=) rs367744803 0.00003
NM_001267550.2(TTN):c.44987G>A (p.Arg14996His) rs762128685 0.00003
NM_001267550.2(TTN):c.45054G>A (p.Ala15018=) rs781392140 0.00003
NM_001267550.2(TTN):c.45739A>C (p.Ile15247Leu) rs373857517 0.00003
NM_001267550.2(TTN):c.46147G>C (p.Glu15383Gln) rs773073914 0.00003
NM_001267550.2(TTN):c.46564G>C (p.Gly15522Arg) rs750435043 0.00003
NM_001267550.2(TTN):c.46823T>C (p.Leu15608Ser) rs397517588 0.00003
NM_001267550.2(TTN):c.46847C>T (p.Thr15616Met) rs368057764 0.00003
NM_001267550.2(TTN):c.47090G>A (p.Arg15697His) rs757663389 0.00003
NM_001267550.2(TTN):c.47516T>C (p.Ile15839Thr) rs764388462 0.00003
NM_001267550.2(TTN):c.48164G>A (p.Arg16055His) rs72677238 0.00003
NM_001267550.2(TTN):c.50077G>A (p.Val16693Ile) rs377141765 0.00003
NM_001267550.2(TTN):c.50669A>C (p.Glu16890Ala) rs752204728 0.00003
NM_001267550.2(TTN):c.50797G>A (p.Ala16933Thr) rs794729452 0.00003
NM_001267550.2(TTN):c.5147G>A (p.Arg1716His) rs771659260 0.00003
NM_001267550.2(TTN):c.52006G>A (p.Val17336Ile) rs567781604 0.00003
NM_001267550.2(TTN):c.52052T>C (p.Val17351Ala) rs565423253 0.00003
NM_001267550.2(TTN):c.52409C>A (p.Pro17470Gln) rs372618781 0.00003
NM_001267550.2(TTN):c.52880G>A (p.Arg17627His) rs536494011 0.00003
NM_001267550.2(TTN):c.54140C>T (p.Ala18047Val) rs373815064 0.00003
NM_001267550.2(TTN):c.54348A>T (p.Glu18116Asp) rs773746281 0.00003
NM_001267550.2(TTN):c.55213C>T (p.Arg18405Cys) rs199656264 0.00003
NM_001267550.2(TTN):c.56171A>G (p.Lys18724Arg) rs201091423 0.00003
NM_001267550.2(TTN):c.5741C>T (p.Ala1914Val) rs374203813 0.00003
NM_001267550.2(TTN):c.57501T>C (p.Asn19167=) rs780536141 0.00003
NM_001267550.2(TTN):c.57594T>A (p.Asn19198Lys) rs367606284 0.00003
NM_001267550.2(TTN):c.60008G>A (p.Arg20003His) rs756091180 0.00003
NM_001267550.2(TTN):c.60314T>G (p.Val20105Gly) rs727504490 0.00003
NM_001267550.2(TTN):c.60782C>T (p.Thr20261Ile) rs555901678 0.00003
NM_001267550.2(TTN):c.62030T>C (p.Ile20677Thr) rs558670891 0.00003
NM_001267550.2(TTN):c.62468G>A (p.Arg20823His) rs758019778 0.00003
NM_001267550.2(TTN):c.62995T>G (p.Phe20999Val) rs568886353 0.00003
NM_001267550.2(TTN):c.63712C>T (p.Arg21238Cys) rs190432620 0.00003
NM_001267550.2(TTN):c.6490G>A (p.Ala2164Thr) rs56285559 0.00003
NM_001267550.2(TTN):c.65566G>A (p.Ala21856Thr) rs752176305 0.00003
NM_001267550.2(TTN):c.66650T>G (p.Phe22217Cys) rs764330098 0.00003
NM_001267550.2(TTN):c.6668A>T (p.His2223Leu) rs372979075 0.00003
NM_001267550.2(TTN):c.6820C>G (p.Gln2274Glu) rs145649088 0.00003
NM_001267550.2(TTN):c.69957C>G (p.Ile23319Met) rs540840413 0.00003
NM_001267550.2(TTN):c.70328G>A (p.Arg23443Gln) rs762529671 0.00003
NM_001267550.2(TTN):c.72358C>T (p.Leu24120Phe) rs372309164 0.00003
NM_001267550.2(TTN):c.73765T>C (p.Tyr24589His) rs371821218 0.00003
NM_001267550.2(TTN):c.74546G>A (p.Arg24849Gln) rs745488276 0.00003
NM_001267550.2(TTN):c.75734G>A (p.Arg25245Lys) rs397517701 0.00003
NM_001267550.2(TTN):c.75997G>A (p.Gly25333Ser) rs757343393 0.00003
NM_001267550.2(TTN):c.79251G>C (p.Glu26417Asp) rs369019463 0.00003
NM_001267550.2(TTN):c.79315C>T (p.Arg26439Cys) rs372968732 0.00003
NM_001267550.2(TTN):c.79865C>T (p.Pro26622Leu) rs532706350 0.00003
NM_001267550.2(TTN):c.81844A>G (p.Lys27282Glu) rs761201021 0.00003
NM_001267550.2(TTN):c.8269G>A (p.Val2757Ile) rs769822096 0.00003
NM_001267550.2(TTN):c.82732A>G (p.Lys27578Glu) rs368850871 0.00003
NM_001267550.2(TTN):c.83575A>G (p.Lys27859Glu) rs761633407 0.00003
NM_001267550.2(TTN):c.84385G>T (p.Val28129Phe) rs752974639 0.00003
NM_001267550.2(TTN):c.84976C>T (p.Arg28326Trp) rs749633038 0.00003
NM_001267550.2(TTN):c.85389C>T (p.Leu28463=) rs144731702 0.00003
NM_001267550.2(TTN):c.85421G>A (p.Arg28474His) rs754356257 0.00003
NM_001267550.2(TTN):c.85450G>A (p.Asp28484Asn) rs56330345 0.00003
NM_001267550.2(TTN):c.87263C>T (p.Thr29088Ile) rs565333965 0.00003
NM_001267550.2(TTN):c.88514G>A (p.Arg29505His) rs143193258 0.00003
NM_001267550.2(TTN):c.90748G>A (p.Glu30250Lys) rs200651247 0.00003
NM_001267550.2(TTN):c.91343G>A (p.Arg30448His) rs374474227 0.00003
NM_001267550.2(TTN):c.9226A>G (p.Met3076Val) rs766144077 0.00003
NM_001267550.2(TTN):c.93107T>C (p.Met31036Thr) rs376942948 0.00003
NM_001267550.2(TTN):c.93305A>G (p.Tyr31102Cys) rs374084427 0.00003
NM_001267550.2(TTN):c.94075G>A (p.Val31359Ile) rs780436747 0.00003
NM_001267550.2(TTN):c.94507G>A (p.Ala31503Thr) rs375657115 0.00003
NM_001267550.2(TTN):c.95647G>A (p.Val31883Met) rs72648262 0.00003
NM_001267550.2(TTN):c.95743G>T (p.Ala31915Ser) rs1490243211 0.00003
NM_001267550.2(TTN):c.9683C>G (p.Ser3228Cys) rs371249764 0.00003
NM_001267550.2(TTN):c.97481G>A (p.Arg32494His) rs371645048 0.00003
NM_001267550.2(TTN):c.98098+3G>A rs556524594 0.00003
NM_001267550.2(TTN):c.98252T>C (p.Ile32751Thr) rs746586029 0.00003
NM_001267550.2(TTN):c.99536T>C (p.Val33179Ala) rs576759867 0.00003
NM_001283009.2(RTEL1):c.2869C>T (p.Arg957Trp) rs398123018 0.00003
NM_001289808.2(CRYAB):c.3G>A (p.Met1Ile) rs397516686 0.00003
NM_001298.3(CNGA3):c.1688G>A (p.Arg563His) rs552069173 0.00003
NM_001330260.2(SCN8A):c.4590G>A (p.Met1530Ile) rs771231471 0.00003
NM_001353921.2(ARHGEF9):c.180G>A (p.Glu60=) rs1286076100 0.00003
NM_001355436.2(SPTB):c.4291C>T (p.Arg1431Ter) rs757836263 0.00003
NM_001355436.2(SPTB):c.4376G>A (p.Arg1459Gln) rs148127231 0.00003
NM_001360.3(DHCR7):c.461C>G (p.Thr154Arg) rs143312232 0.00003
NM_001360.3(DHCR7):c.546G>A (p.Trp182Ter) rs1032242817 0.00003
NM_001363711.2(DUOX2):c.2635G>A (p.Glu879Lys) rs774556391 0.00003
NM_001369.3(DNAH5):c.5503C>T (p.Gln1835Ter) rs761622153 0.00003
NM_001370658.1(BTD):c.400-10T>G rs750494564 0.00003
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn) rs397514367 0.00003
NM_001370658.1(BTD):c.535G>A (p.Val179Met) rs397514375 0.00003
NM_001370658.1(BTD):c.572G>A (p.Arg191His) rs112195009 0.00003
NM_001370658.1(BTD):c.908A>G (p.His303Arg) rs397507176 0.00003
NM_001375524.1(TRRAP):c.8458A>G (p.Ile2820Val) rs140534199 0.00003
NM_001376.5(DYNC1H1):c.6904G>A (p.Val2302Ile) rs561339487 0.00003
NM_001378120.1(MBD5):c.2569G>A (p.Ala857Thr) rs769330358 0.00003
NM_001378120.1(MBD5):c.884C>G (p.Thr295Ser) rs368339420 0.00003
NM_001378120.1(MBD5):c.961A>G (p.Met321Val) rs369869865 0.00003
NM_001378183.1(PIEZO2):c.1661T>A (p.Leu554Ter) rs978512526 0.00003
NM_001378183.1(PIEZO2):c.2032C>T (p.Leu678=) rs999773875 0.00003
NM_001382391.1(CSPP1):c.1218G>C (p.Ala406=) rs752326108 0.00003
NM_001384474.1(LOXHD1):c.71del (p.Leu24fs) rs775267638 0.00003
NM_001386125.1(OBSCN):c.962A>G (p.Tyr321Cys) rs771719843 0.00003
NM_001386298.1(CIC):c.4928C>T (p.Ser1643Leu) rs587778197 0.00003
NM_001429.4(EP300):c.2594C>T (p.Thr865Ile) rs754168978 0.00003
NM_001457.4(FLNB):c.3652G>A (p.Ala1218Thr) rs370716086 0.00003
NM_001458.5(FLNC):c.3133C>A (p.His1045Asn) rs201863231 0.00003
NM_001458.5(FLNC):c.5281G>A (p.Ala1761Thr) rs376023896 0.00003
NM_001458.5(FLNC):c.6538C>T (p.Arg2180Cys) rs779029827 0.00003
NM_001458.5(FLNC):c.6715C>T (p.Arg2239Trp) rs367820987 0.00003
NM_001458.5(FLNC):c.7123G>A (p.Val2375Ile) rs768941858 0.00003
NM_001458.5(FLNC):c.7948G>A (p.Val2650Met) rs372172779 0.00003
NM_001673.5(ASNS):c.478del (p.Glu160fs) rs797045307 0.00003
NM_001723.7(DST):c.3748C>T (p.Arg1250Ter) rs779271284 0.00003
NM_001844.5(COL2A1):c.941C>T (p.Pro314Leu) rs778135776 0.00003
NM_001848.3(COL6A1):c.2480C>T (p.Pro827Leu) rs761774962 0.00003
NM_001848.3(COL6A1):c.2560C>T (p.Arg854Cys) rs771987341 0.00003
NM_001849.4(COL6A2):c.2234G>A (p.Arg745Gln) rs768280699 0.00003
NM_001849.4(COL6A2):c.2488C>T (p.Arg830Trp) rs373072443 0.00003
NM_001927.4(DES):c.229A>G (p.Thr77Ala) rs769034192 0.00003
NM_001943.5(DSG2):c.2162A>G (p.His721Arg) rs756912703 0.00003
NM_001999.4(FBN2):c.195G>A (p.Glu65=) rs750055830 0.00003
NM_002016.2(FLG):c.138+1G>C rs756254959 0.00003
NM_002206.3(ITGA7):c.1810C>T (p.Arg604Ter) rs141365537 0.00003
NM_002294.3(LAMP2):c.1000G>C (p.Glu334Gln) rs766962315 0.00003
NM_002437.5(MPV17):c.121C>T (p.Arg41Trp) rs863224072 0.00003
NM_002471.4(MYH6):c.3508G>A (p.Glu1170Lys) rs727503236 0.00003
NM_002529.4(NTRK1):c.1354+1G>T rs764771898 0.00003
NM_002693.3(POLG):c.3151G>A (p.Gly1051Arg) rs121918049 0.00003
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) rs121918044 0.00003
NM_002775.5(HTRA1):c.1108C>T (p.Arg370Ter) rs113993971 0.00003
NM_002878.4(RAD51D):c.556C>T (p.Arg186Ter) rs387906843 0.00003
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu) rs370228071 0.00003
NM_002905.5(RDH5):c.382G>A (p.Asp128Asn) rs377029071 0.00003
NM_003104.6(SORD):c.328C>T (p.Arg110Ter) rs745509632 0.00003
NM_003126.4(SPTA1):c.1175C>T (p.Ala392Val) rs748917509 0.00003
NM_003126.4(SPTA1):c.3997-5C>T rs374510886 0.00003
NM_003126.4(SPTA1):c.4306C>T (p.Arg1436Trp) rs570224404 0.00003
NM_003126.4(SPTA1):c.5915C>A (p.Thr1972Asn) rs201463616 0.00003
NM_003126.4(SPTA1):c.6869G>A (p.Arg2290His) rs759075251 0.00003
NM_003172.4(SURF1):c.574C>T (p.Arg192Trp) rs782190413 0.00003
NM_003242.6(TGFBR2):c.1015C>T (p.Arg339Trp) rs761991787 0.00003
NM_003482.4(KMT2D):c.14836G>A (p.Val4946Ile) rs756017412 0.00003
NM_003619.4(PRSS12):c.1837+1G>A rs201470712 0.00003
NM_003742.4(ABCB11):c.1708G>A (p.Ala570Thr) rs886043807 0.00003
NM_003919.3(SGCE):c.410G>A (p.Arg137His) rs548306335 0.00003
NM_003919.3(SGCE):c.470C>T (p.Pro157Leu) rs768233445 0.00003
NM_003999.3(OSMR):c.2081C>T (p.Pro694Leu) rs387906822 0.00003
NM_004006.3(DMD):c.1812+1G>A rs373286166 0.00003
NM_004006.3(DMD):c.2069C>T (p.Thr690Ile) rs762475657 0.00003
NM_004006.3(DMD):c.2912A>T (p.Asp971Val) rs762154042 0.00003
NM_004006.3(DMD):c.4049G>A (p.Arg1350His) rs750981128 0.00003
NM_004006.3(DMD):c.4421G>C (p.Ser1474Thr) rs398123956 0.00003
NM_004006.3(DMD):c.5230A>G (p.Asn1744Asp) rs376234802 0.00003
NM_004006.3(DMD):c.5869C>T (p.Arg1957Trp) rs755477994 0.00003
NM_004006.3(DMD):c.6212G>A (p.Arg2071Lys) rs774825173 0.00003
NM_004006.3(DMD):c.8677C>T (p.Pro2893Ser) rs756160145 0.00003
NM_004006.3(DMD):c.8895T>A (p.Asp2965Glu) rs781748062 0.00003
NM_004006.3(DMD):c.9478C>T (p.Arg3160Cys) rs779233737 0.00003
NM_004183.4(BEST1):c.37C>T (p.Arg13Cys) rs886041141 0.00003
NM_004211.5(SLC6A5):c.1627C>T (p.Pro543Ser) rs555858151 0.00003
NM_004260.4(RECQL4):c.1570C>T (p.Pro524Ser) rs374965803 0.00003
NM_004281.4(BAG3):c.509G>A (p.Arg170Gln) rs140904592 0.00003
NM_004320.6(ATP2A1):c.1717C>T (p.Arg573Ter) rs371058445 0.00003
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter) rs398124119 0.00003
NM_004370.6(COL12A1):c.1258G>C (p.Glu420Gln) rs757252832 0.00003
NM_004370.6(COL12A1):c.3383G>A (p.Arg1128Lys) rs373637483 0.00003
NM_004370.6(COL12A1):c.3570G>A (p.Met1190Ile) rs536615203 0.00003
NM_004370.6(COL12A1):c.4196G>A (p.Arg1399His) rs200125060 0.00003
NM_004380.3(CREBBP):c.1504C>T (p.Pro502Ser) rs973479623 0.00003
NM_004415.4(DSP):c.4741A>G (p.Lys1581Glu) rs186842903 0.00003
NM_005094.4(SLC27A4):c.1510C>T (p.Arg504Cys) rs770645288 0.00003
NM_005188.4(CBL):c.2666A>G (p.Lys889Arg) rs1369884955 0.00003
NM_005198.5(CHKB):c.673C>T (p.Leu225Phe) rs543829328 0.00003
NM_005327.7(HADH):c.706C>T (p.Arg236Ter) rs375717077 0.00003
NM_005458.8(GABBR2):c.1177C>G (p.His393Asp) rs768482972 0.00003
NM_005518.4(HMGCS2):c.181_182insCCAATATGGCCCTGGAGGCCAA (p.Val61fs) rs1553241079 0.00003
NM_005529.7(HSPG2):c.9033_9034del (p.Pro3011_Ser3012insTer) rs1318029350 0.00003
NM_005609.4(PYGM):c.1190T>C (p.Leu397Pro) rs1005687078 0.00003
NM_005609.4(PYGM):c.2143C>T (p.Arg715Trp) rs780656375 0.00003
NM_005609.4(PYGM):c.2352C>A (p.Cys784Ter) rs1057517001 0.00003
NM_005609.4(PYGM):c.481C>T (p.Arg161Cys) rs200038732 0.00003
NM_005633.4(SOS1):c.1720G>A (p.Val574Ile) rs727504641 0.00003
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter) rs104893950 0.00003
NM_005677.4(COLQ):c.1321A>G (p.Thr441Ala) rs375215281 0.00003
NM_005677.4(COLQ):c.1354C>T (p.Arg452Cys) rs368932156 0.00003
NM_005732.4(RAD50):c.3277C>T (p.Arg1093Ter) rs121912628 0.00003
NM_006180.6(NTRK2):c.560C>A (p.Ala187Glu) rs563972840 0.00003
NM_006516.4(SLC2A1):c.652C>T (p.Arg218Cys) rs147249343 0.00003
NM_006662.3(SRCAP):c.8989A>G (p.Thr2997Ala) rs138111804 0.00003
NM_006790.3(MYOT):c.17G>A (p.Arg6His) rs387906882 0.00003
NM_006946.4(SPTBN2):c.6754C>T (p.Arg2252Cys) rs775007929 0.00003
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala) rs587780192 0.00003
NM_007215.4(POLG2):c.775C>T (p.Arg259Ter) rs782006396 0.00003
NM_007375.4(TARDBP):c.1147A>G (p.Ile383Val) rs80356740 0.00003
NM_012179.4(FBXO7):c.1535G>A (p.Gly512Asp) rs142471722 0.00003
NM_013382.7(POMT2):c.551C>T (p.Thr184Met) rs267606971 0.00003
NM_014049.5(ACAD9):c.1832A>G (p.Tyr611Cys) rs1057523761 0.00003
NM_014053.4(FLVCR1):c.574T>C (p.Cys192Arg) rs267606821 0.00003
NM_014251.3(SLC25A13):c.127C>T (p.Arg43Ter) rs780525233 0.00003
NM_014611.3(MDN1):c.9185A>G (p.Asn3062Ser) rs146744786 0.00003
NM_014625.4(NPHS2):c.714G>T (p.Arg238Ser) rs748812981 0.00003
NM_014908.4(DOLK):c.380T>C (p.Val127Ala) rs201629680 0.00003
NM_014967.5(FAN1):c.2264del (p.Glu755fs) rs756840415 0.00003
NM_015272.5(RPGRIP1L):c.583A>T (p.Lys195Ter) rs1277577195 0.00003
NM_015346.4(ZFYVE26):c.4312C>T (p.Arg1438Ter) rs118204049 0.00003
NM_015465.5(GEMIN5):c.4496dup (p.Tyr1499Ter) rs868028669 0.00003
NM_015559.3(SETBP1):c.200G>A (p.Arg67Gln) rs778196366 0.00003
NM_015559.3(SETBP1):c.655C>T (p.His219Tyr) rs556231993 0.00003
NM_015599.3(PGM3):c.-2-194C>T rs753019951 0.00003
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys) rs121918549 0.00003
NM_015713.5(RRM2B):c.329G>A (p.Arg110His) rs267607025 0.00003
NM_015937.6(PIGT):c.1520G>A (p.Arg507Gln) rs769195904 0.00003
NM_015959.4(TMX2):c.614G>A (p.Arg205Gln) rs370455806 0.00003
NM_016034.5(MRPS2):c.413G>A (p.Arg138His) rs758539748 0.00003
NM_016343.4(CENPF):c.7219C>T (p.Arg2407Ter) rs376076886 0.00003
NM_016417.3(GLRX5):c.185C>T (p.Pro62Leu) rs577438813 0.00003
NM_016580.4(PCDH12):c.922C>T (p.Arg308Ter) rs370283860 0.00003
NM_017534.6(MYH2):c.508C>T (p.Arg170Ter) rs750232956 0.00003
NM_017617.5(NOTCH1):c.2754C>T (p.Asn918=) rs373787791 0.00003
NM_017617.5(NOTCH1):c.4315G>A (p.Asp1439Asn) rs200232299 0.00003
NM_017799.4(TMEM260):c.1869+1G>A rs141599092 0.00003
NM_018026.4(PACS1):c.1238C>T (p.Thr413Met) rs769140907 0.00003
NM_018100.4(EFHC1):c.1114C>T (p.Arg372Trp) rs371151471 0.00003
NM_018129.4(PNPO):c.686G>A (p.Arg229Gln) rs773450573 0.00003
NM_018668.5(VPS33B):c.1780A>G (p.Arg594Gly) rs868354713 0.00003
NM_019892.6(INPP5E):c.1304G>A (p.Arg435Gln) rs121918129 0.00003
NM_020041.3(SLC2A9):c.1138C>T (p.Arg380Trp) rs121908321 0.00003
NM_020041.3(SLC2A9):c.224T>G (p.Leu75Arg) rs863225072 0.00003
NM_020320.5(RARS2):c.419T>G (p.Phe140Cys) rs772887102 0.00003
NM_020533.3(MCOLN1):c.838C>T (p.His280Tyr) rs762770801 0.00003
NM_020800.3(IFT80):c.2101G>C (p.Ala701Pro) rs137853116 0.00003
NM_020964.3(EPG5):c.1104C>T (p.Phe368=) rs562098384 0.00003
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) rs146646971 0.00003
NM_021254.4(CFAP298):c.735C>G (p.Tyr245Ter) rs202094637 0.00003
NM_021625.5(TRPV4):c.37G>T (p.Gly13Trp) rs763302555 0.00003
NM_021971.4(GMPPB):c.458C>T (p.Thr153Ile) rs202013297 0.00003
NM_022168.4(IFIH1):c.2465G>A (p.Arg822Gln) rs376048533 0.00003
NM_022437.3(ABCG8):c.2T>C (p.Met1Thr) rs538699999 0.00003
NM_022464.5(SIL1):c.947dup (p.Arg317fs) rs767943814 0.00003
NM_024079.5(ALG8):c.685C>T (p.Arg229Ter) rs533704173 0.00003
NM_024334.3(TMEM43):c.947G>C (p.Trp316Ser) rs199526104 0.00003
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala) rs201015785 0.00003
NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys) rs80338926 0.00003
NM_024577.4(SH3TC2):c.3293C>T (p.Thr1098Ile) rs199514987 0.00003
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln) rs376894444 0.00003
NM_024675.4(PALB2):c.3296C>G (p.Thr1099Arg) rs142132127 0.00003
NM_030773.4(TUBB1):c.952C>T (p.Arg318Trp) rs121918555 0.00003
NM_032485.6(MCM8):c.1033C>T (p.Arg345Ter) rs757546009 0.00003
NM_033109.5(PNPT1):c.1382T>C (p.Val461Ala) rs752666494 0.00003
NM_052844.4(DYNC2I2):c.1372+1G>A rs371069043 0.00003
NM_052867.4(NALCN):c.2495A>G (p.Tyr832Cys) rs549182297 0.00003
NM_053025.4(MYLK):c.4838-3C>T rs776825316 0.00003
NM_054012.4(ASS1):c.970G>A (p.Gly324Ser) rs121908639 0.00003
NM_080424.4(SP110):c.1984C>T (p.Arg662Ter) rs201059449 0.00003
NM_080680.3(COL11A2):c.1427C>A (p.Ala476Glu) rs373983482 0.00003
NM_080680.3(COL11A2):c.3173C>T (p.Pro1058Leu) rs562253142 0.00003
NM_080680.3(COL11A2):c.4166C>T (p.Pro1389Leu) rs781402333 0.00003
NM_138425.4(C12orf57):c.1A>G (p.Met1Val) rs587776954 0.00003
NM_138691.3(TMC1):c.1141T>A (p.Tyr381Asn) rs749491943 0.00003
NM_138694.4(PKHD1):c.1123C>T (p.Arg375Trp) rs376040501 0.00003
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala) rs199568593 0.00003
NM_138694.4(PKHD1):c.353del (p.Ser118fs) rs398124483 0.00003
NM_139242.4(MTFMT):c.1A>C (p.Met1Leu) rs769064443 0.00003
NM_139248.3(LIPH):c.742C>A (p.His248Asn) rs201868115 0.00003
NM_144643.4(SCLT1):c.638C>T (p.Thr213Ile) rs760824351 0.00003
NM_145207.3(AFG2A):c.2159C>T (p.Ala720Val) rs758955886 0.00003
NM_152305.3(POGLUT1):c.814C>T (p.Arg272Ter) rs747897279 0.00003
NM_152416.4(NDUFAF6):c.532G>C (p.Ala178Pro) rs201088736 0.00003
NM_152594.3(SPRED1):c.371C>T (p.Ser124Phe) rs760132893 0.00003
NM_152743.4(BRAT1):c.1684C>T (p.Arg562Ter) rs759216914 0.00003
NM_153700.2(STRC):c.4701+1G>A rs199839039 0.00003
NM_153704.6(TMEM67):c.651+2T>G rs199821258 0.00003
NM_153717.3(EVC):c.2731C>T (p.Arg911Ter) rs767400887 0.00003
NM_170784.3(MKKS):c.1161+4G>A rs761886025 0.00003
NM_177438.3(DICER1):c.1381A>G (p.Ile461Val) rs141163928 0.00003
NM_177924.5(ASAH1):c.147G>A (p.Trp49Ter) rs369707059 0.00003
NM_182914.3(SYNE2):c.14203G>A (p.Val4735Ile) rs538224852 0.00003
NM_182914.3(SYNE2):c.14980T>C (p.Phe4994Leu) rs747348017 0.00003
NM_182914.3(SYNE2):c.20203G>A (p.Glu6735Lys) rs138789938 0.00003
NM_182914.3(SYNE2):c.2558C>G (p.Ser853Cys) rs763133096 0.00003
NM_182914.3(SYNE2):c.8905C>G (p.Leu2969Val) rs773914389 0.00003
NM_182961.4(SYNE1):c.18930G>T (p.Gln6310His) rs759556319 0.00003
NM_182961.4(SYNE1):c.24449A>G (p.Lys8150Arg) rs557350925 0.00003
NM_182961.4(SYNE1):c.6151G>C (p.Ala2051Pro) rs376518010 0.00003
NM_182961.4(SYNE1):c.9504A>G (p.Leu3168=) rs1020832262 0.00003
NM_198239.2(CCN6):c.156C>A (p.Cys52Ter) rs121908901 0.00003
NM_198525.3(KIF7):c.1164C>T (p.Gly388=) rs975756878 0.00003
NM_198525.3(KIF7):c.61C>T (p.Arg21Ter) rs794727316 0.00003
NM_201384.3(PLEC):c.10729G>A (p.Gly3577Ser) rs782299720 0.00003
NM_201384.3(PLEC):c.7097G>A (p.Arg2366Gln) rs576252504 0.00003
NM_201384.3(PLEC):c.7220G>A (p.Arg2407Gln) rs782618396 0.00003
NM_201384.3(PLEC):c.7822G>A (p.Ala2608Thr) rs199995144 0.00003
NM_201525.4(ADGRG1):c.1675C>T (p.Arg559Trp) rs121908464 0.00003
NM_201631.4(TGM5):c.1335G>C (p.Lys445Asn) rs606231276 0.00003
NM_206926.2(SELENON):c.700C>T (p.Arg234Cys) rs368074297 0.00003
NM_206933.4(USH2A):c.7595-3C>G rs201657446 0.00003
NM_206933.4(USH2A):c.9571-2A>G rs751111524 0.00003
NM_207346.3(TSEN54):c.1039A>T (p.Lys347Ter) rs143604970 0.00003
NM_207361.6(FREM2):c.8176+2dup rs779126010 0.00003
NM_212552.3(BOLA3):c.200T>A (p.Ile67Asn) rs550855238 0.00003
NM_213599.3(ANO5):c.173G>A (p.Arg58Gln) rs749698519 0.00003
NM_213599.3(ANO5):c.817C>T (p.Leu273Phe) rs772929002 0.00003
NM_000016.6(ACADM):c.238A>G (p.Arg80Gly) rs758476299 0.00002
NM_000016.6(ACADM):c.946-6T>G rs765793260 0.00002
NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp) rs2309689 0.00002
NM_000018.4(ACADVL):c.685C>T (p.Arg229Ter) rs786204536 0.00002
NM_000019.4(ACAT1):c.547G>A (p.Gly183Arg) rs120074141 0.00002
NM_000022.4(ADA):c.454C>A (p.Leu152Met) rs121908728 0.00002
NM_000022.4(ADA):c.941A>G (p.Asp314Gly) rs547569818 0.00002
NM_000023.4(SGCA):c.100C>T (p.Arg34Cys) rs758647756 0.00002
NM_000023.4(SGCA):c.242G>A (p.Arg81His) rs747984529 0.00002
NM_000033.4(ABCD1):c.1526A>G (p.Asn509Ser) rs782158792 0.00002
NM_000033.4(ABCD1):c.1747G>A (p.Val583Met) rs1569541120 0.00002
NM_000037.4(ANK1):c.5119G>A (p.Gly1707Ser) rs746486928 0.00002
NM_000038.6(APC):c.3378C>G (p.Ser1126Arg) rs149353082 0.00002
NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr) rs118203941 0.00002
NM_000048.4(ASL):c.638G>A (p.Arg213Gln) rs1449589636 0.00002
NM_000051.4(ATM):c.8786+1G>A rs17174393 0.00002
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys) rs587782292 0.00002
NM_000053.4(ATP7B):c.2828G>A (p.Gly943Asp) rs779323689 0.00002
NM_000053.4(ATP7B):c.3505A>G (p.Met1169Val) rs749085322 0.00002
NM_000053.4(ATP7B):c.3517G>A (p.Glu1173Lys) rs756029120 0.00002
NM_000055.4(BCHE):c.1584T>A (p.Tyr528Ter) rs760485585 0.00002
NM_000057.4(BLM):c.664G>A (p.Glu222Lys) rs774075577 0.00002
NM_000059.4(BRCA2):c.3299A>T (p.Asn1100Ile) rs80358575 0.00002
NM_000059.4(BRCA2):c.7534C>T (p.Leu2512Phe) rs80358980 0.00002
NM_000059.4(BRCA2):c.800G>A (p.Gly267Glu) rs80359036 0.00002
NM_000069.3(CACNA1S):c.1531A>C (p.Ile511Leu) rs748021245 0.00002
NM_000069.3(CACNA1S):c.1637G>A (p.Ser546Asn) rs373525085 0.00002
NM_000069.3(CACNA1S):c.2065G>A (p.Gly689Ser) rs753313121 0.00002
NM_000069.3(CACNA1S):c.835G>A (p.Gly279Ser) rs375704313 0.00002
NM_000070.3(CAPN3):c.1202A>G (p.Tyr401Cys) rs371784007 0.00002
NM_000071.3(CBS):c.1006C>T (p.Arg336Cys) rs398123151 0.00002
NM_000078.3(CETP):c.1321+1G>A rs5742907 0.00002
NM_000083.3(CLCN1):c.803C>T (p.Thr268Met) rs80356687 0.00002
NM_000083.3(CLCN1):c.829T>C (p.Cys277Arg) rs757109632 0.00002
NM_000083.3(CLCN1):c.979G>A (p.Val327Ile) rs774396430 0.00002
NM_000092.5(COL4A4):c.110A>G (p.Tyr37Cys) rs750707504 0.00002
NM_000124.4(ERCC6):c.3095C>G (p.Pro1032Arg) rs775549101 0.00002
NM_000124.4(ERCC6):c.4063-1G>C rs766980240 0.00002
NM_000128.4(F11):c.682C>T (p.Arg228Ter) rs752907087 0.00002
NM_000132.4(F8):c.5123G>A (p.Arg1708His) rs111033614 0.00002
NM_000135.4(FANCA):c.3971C>T (p.Pro1324Leu) rs182657062 0.00002
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) rs104886458 0.00002
NM_000138.5(FBN1):c.2950G>A (p.Val984Ile) rs747713929 0.00002
NM_000151.4(G6PC1):c.14T>G (p.Met5Arg) rs1250172816 0.00002
NM_000151.4(G6PC1):c.648G>T (p.Leu216=) rs80356484 0.00002
NM_000151.4(G6PC1):c.809G>T (p.Gly270Val) rs80356483 0.00002
NM_000152.5(GAA):c.1735G>A (p.Glu579Lys) rs991082382 0.00002
NM_000152.5(GAA):c.1831G>A (p.Gly611Ser) rs1278340100 0.00002
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn) rs753269119 0.00002
NM_000152.5(GAA):c.1936G>A (p.Val646Ile) rs770029932 0.00002
NM_000152.5(GAA):c.2445C>T (p.Asn815=) rs755846997 0.00002
NM_000152.5(GAA):c.687C>T (p.Arg229=) rs149814041 0.00002
NM_000152.5(GAA):c.705G>A (p.Thr235=) rs2304846 0.00002
NM_000152.5(GAA):c.866C>T (p.Ala289Val) rs145903608 0.00002
NM_000152.5(GAA):c.971C>T (p.Pro324Leu) rs750030887 0.00002
NM_000153.4(GALC):c.391T>C (p.Trp131Arg) rs746507078 0.00002
NM_000154.2(GALK1):c.863C>T (p.Thr288Met) rs759284637 0.00002
NM_000155.4(GALT):c.413C>T (p.Thr138Met) rs111033686 0.00002
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys) rs111033744 0.00002
NM_000156.6(GAMT):c.403G>A (p.Asp135Asn) rs774144200 0.00002
NM_000157.4(GBA1):c.1060G>C (p.Asp354His) rs398123526 0.00002
NM_000159.4(GCDH):c.641C>T (p.Thr214Met) rs1131692030 0.00002
NM_000159.4(GCDH):c.937C>T (p.Arg313Trp) rs779315456 0.00002
NM_000162.5(GCK):c.370G>A (p.Asp124Asn) rs759072800 0.00002
NM_000169.3(GLA):c.335G>A (p.Arg112His) rs372966991 0.00002
NM_000169.3(GLA):c.593T>C (p.Ile198Thr) rs727503950 0.00002
NM_000169.3(GLA):c.868A>C (p.Met290Leu) rs375538532 0.00002
NM_000179.3(MSH6):c.3220A>T (p.Met1074Leu) rs730881804 0.00002
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617 0.00002
NM_000202.8(IDS):c.1478G>A (p.Arg493His) rs782347729 0.00002
NM_000203.5(IDUA):c.1743C>G (p.Tyr581Ter) rs776787370 0.00002
NM_000203.5(IDUA):c.298A>G (p.Arg100Gly) rs201345740 0.00002
NM_000218.3(KCNQ1):c.1747C>T (p.Arg583Cys) rs17221854 0.00002
NM_000222.3(KIT):c.829A>G (p.Ile277Val) rs757547974 0.00002
NM_000228.3(LAMB3):c.781C>G (p.Pro261Ala) rs537985381 0.00002
NM_000254.3(MTR):c.2813G>T (p.Ser938Ile) rs774910076 0.00002
NM_000256.3(MYBPC3):c.3190+5G>A rs587782958 0.00002
NM_000256.3(MYBPC3):c.503T>C (p.Val168Ala) rs727505267 0.00002
NM_000256.3(MYBPC3):c.643C>T (p.Arg215Cys) rs397516063 0.00002
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys) rs121913630 0.00002
NM_000257.4(MYH7):c.2348G>A (p.Arg783His) rs397516142 0.00002
NM_000257.4(MYH7):c.4078G>A (p.Val1360Ile) rs373231077 0.00002
NM_000257.4(MYH7):c.4399C>G (p.Leu1467Val) rs397516214 0.00002
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390 0.00002
NM_000257.4(MYH7):c.5561C>T (p.Thr1854Met) rs372381770 0.00002
NM_000257.4(MYH7):c.925G>A (p.Asp309Asn) rs730880923 0.00002
NM_000260.4(MYO7A):c.5660C>T (p.Pro1887Leu) rs199606180 0.00002
NM_000263.4(NAGLU):c.2020C>T (p.Arg674Cys) rs763299645 0.00002
NM_000283.4(PDE6B):c.1655G>A (p.Arg552Gln) rs751859807 0.00002
NM_000298.6(PKLR):c.331G>A (p.Gly111Arg) rs918627824 0.00002
NM_000313.4(PROS1):c.233C>T (p.Thr78Met) rs6122 0.00002
NM_000334.4(SCN4A):c.2861C>T (p.Pro954Leu) rs201367621 0.00002
NM_000334.4(SCN4A):c.3604G>A (p.Glu1202Lys) rs201916531 0.00002
NM_000334.4(SCN4A):c.4364T>C (p.Ile1455Thr) rs377176361 0.00002
NM_000336.3(SCNN1B):c.1542+1G>A rs550424284 0.00002
NM_000342.4(SLC4A1):c.1627-3C>T rs776491345 0.00002
NM_000352.6(ABCC8):c.208G>A (p.Gly70Arg) rs764349043 0.00002
NM_000368.5(TSC1):c.3080G>A (p.Arg1027Gln) rs796053461 0.00002
NM_000371.4(TTR):c.439G>T (p.Glu147Ter) rs730881162 0.00002
NM_000383.4(AIRE):c.607C>T (p.Arg203Ter) rs755490967 0.00002
NM_000384.3(APOB):c.12529C>T (p.Arg4177Ter) rs375275230 0.00002
NM_000426.4(LAMA2):c.4456G>A (p.Ala1486Thr) rs372576669 0.00002
NM_000426.4(LAMA2):c.5562+5G>C rs771046502 0.00002
NM_000426.4(LAMA2):c.7231G>A (p.Val2411Ile) rs199814707 0.00002
NM_000448.3(RAG1):c.2488A>T (p.Lys830Ter) rs755551812 0.00002
NM_000487.6(ARSA):c.1264del (p.Ser421_Leu422insTer) rs755635209 0.00002
NM_000487.6(ARSA):c.251C>T (p.Pro84Leu) rs6151411 0.00002
NM_000487.6(ARSA):c.346C>T (p.Arg116Ter) rs761860059 0.00002
NM_000487.6(ARSA):c.979G>A (p.Gly327Ser) rs148092995 0.00002
NM_000492.4(CFTR):c.532G>A (p.Gly178Arg) rs80282562 0.00002
NM_000512.5(GALNS):c.938C>T (p.Thr313Met) rs894525161 0.00002
NM_000512.5(GALNS):c.986A>C (p.His329Pro) rs760892654 0.00002
NM_000518.5(HBB):c.170G>A (p.Gly57Asp) rs34439278 0.00002
NM_000518.5(HBB):c.359G>A (p.Gly120Asp) rs33947020 0.00002
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys) rs566580738 0.00002
NM_000527.4(LDLR):c.1690A>C (p.Asn564His) rs397509365 0.00002
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser) rs730882096 0.00002
NM_000527.5(LDLR):c.1097A>G (p.Gln366Arg) rs746982741 0.00002
NM_000527.5(LDLR):c.1187-10G>A rs765696008 0.00002
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp) rs373371572 0.00002
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln) rs201102492 0.00002
NM_000527.5(LDLR):c.268G>A (p.Asp90Asn) rs749038326 0.00002
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr) rs121908039 0.00002
NM_000528.4(MAN2B1):c.1528-1G>A rs561991886 0.00002
NM_000528.4(MAN2B1):c.2867T>G (p.Leu956Arg) rs768233248 0.00002
NM_000532.5(PCCB):c.449C>T (p.Thr150Met) rs372770908 0.00002
NM_000540.3(RYR1):c.10230G>A (p.Pro3410=) rs774663618 0.00002
NM_000540.3(RYR1):c.10347+1G>A rs111436401 0.00002
NM_000540.3(RYR1):c.10729C>T (p.Arg3577Trp) rs538497899 0.00002
NM_000540.3(RYR1):c.11314C>T (p.Arg3772Trp) rs763112609 0.00002
NM_000540.3(RYR1):c.1201C>T (p.Arg401Cys) rs193922764 0.00002
NM_000540.3(RYR1):c.12187A>G (p.Met4063Val) rs181968345 0.00002
NM_000540.3(RYR1):c.13180G>A (p.Glu4394Lys) rs748844266 0.00002
NM_000540.3(RYR1):c.13990T>C (p.Cys4664Arg) rs759500310 0.00002
NM_000540.3(RYR1):c.14173-2A>G rs1189024951 0.00002
NM_000540.3(RYR1):c.14474G>A (p.Arg4825His) rs193922875 0.00002
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145 0.00002
NM_000540.3(RYR1):c.14940G>A (p.Thr4980=) rs765570755 0.00002
NM_000540.3(RYR1):c.1925+7C>T rs559157737 0.00002
NM_000540.3(RYR1):c.2635G>A (p.Glu879Lys) rs746904839 0.00002
NM_000540.3(RYR1):c.3127C>T (p.Arg1043Cys) rs111272095 0.00002
NM_000540.3(RYR1):c.3535C>T (p.Arg1179Trp) rs763944786 0.00002
NM_000540.3(RYR1):c.3877C>A (p.Pro1293Thr) rs146407179 0.00002
NM_000540.3(RYR1):c.4710C>T (p.Asn1570=) rs763113534 0.00002
NM_000540.3(RYR1):c.6359T>C (p.Met2120Thr) rs398123473 0.00002
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile) rs193922797 0.00002
NM_000540.3(RYR1):c.7291G>A (p.Asp2431Asn) rs193922810 0.00002
NM_000540.3(RYR1):c.7434C>G (p.Thr2478=) rs747434152 0.00002
NM_000540.3(RYR1):c.8843del (p.Ser2948fs) rs765921831 0.00002
NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu) rs753508874 0.00002
NM_000546.6(TP53):c.466C>T (p.Arg156Cys) rs563378859 0.00002
NM_000553.6(WRN):c.1378G>A (p.Asp460Asn) rs556958354 0.00002
NM_000554.6(CRX):c.206G>A (p.Arg69His) rs775073228 0.00002
NM_000642.3(AGL):c.2039G>A (p.Trp680Ter) rs113994129 0.00002
NM_000747.3(CHRNB1):c.248G>A (p.Trp83Ter) rs766823872 0.00002
NM_000890.5(KCNJ5):c.430A>G (p.Ile144Val) rs369703183 0.00002
NM_001001548.3(CD36):c.220C>T (p.Gln74Ter) rs545489204 0.00002
NM_001005361.3(DNM2):c.1196+677G>A rs763986985 0.00002
NM_001005373.4(LRSAM1):c.517C>T (p.Arg173Ter) rs746159728 0.00002
NM_001018115.3(FANCD2):c.1222C>T (p.Arg408Ter) rs771869385 0.00002
NM_001018115.3(FANCD2):c.3817C>T (p.Arg1273Ter) rs745930696 0.00002
NM_001018115.3(FANCD2):c.904C>T (p.Arg302Trp) rs121917787 0.00002
NM_001034853.2(RPGR):c.1585A>G (p.Ile529Val) rs764009509 0.00002
NM_001035.3(RYR2):c.1319C>T (p.Ala440Val) rs758904216 0.00002
NM_001040142.2(SCN2A):c.1399G>A (p.Ala467Thr) rs745774658 0.00002
NM_001042432.2(CLN3):c.1001G>A (p.Arg334His) rs386833695 0.00002
NM_001077365.2(POMT1):c.1698+1G>A rs763586263 0.00002
NM_001077525.3(MTMR14):c.200G>A (p.Arg67Gln) rs772387395 0.00002
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys) rs119464998 0.00002
NM_001082971.2(DDC):c.206C>T (p.Thr69Met) rs777956037 0.00002
NM_001101426.4(CRPPA):c.1151C>T (p.Pro384Leu) rs752622525 0.00002
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala) rs179363900 0.00002
NM_001112741.2(KCNC1):c.709C>T (p.Arg237Trp) rs150993414 0.00002
NM_001114134.2(EPB42):c.1041G>T (p.Gln347His) rs574359460 0.00002
NM_001114753.3(ENG):c.149C>T (p.Ser50Leu) rs927607049 0.00002
NM_001126108.2(SLC12A3):c.1195C>T (p.Arg399Cys) rs775931992 0.00002
NM_001130438.3(SPTAN1):c.1073A>G (p.Asn358Ser) rs201947293 0.00002
NM_001130438.3(SPTAN1):c.131A>G (p.Tyr44Cys) rs368482631 0.00002
NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp) rs202218890 0.00002
NM_001130987.2(DYSF):c.953T>A (p.Val318Glu) rs398123807 0.00002
NM_001134363.3(RBM20):c.83G>A (p.Gly28Asp) rs1466787506 0.00002
NM_001134831.2(AHI1):c.2247dup (p.Leu750fs) rs1445681647 0.00002
NM_001134831.2(AHI1):c.313C>T (p.Gln105Ter) rs774628957 0.00002
NM_001135146.2(SLC39A8):c.112G>C (p.Gly38Arg) rs778210210 0.00002
NM_001142800.2(EYS):c.2528G>A (p.Gly843Glu) rs74419361 0.00002
NM_001142800.2(EYS):c.32dup (p.Met12fs) rs779372264 0.00002
NM_001142864.4(PIEZO1):c.1682C>T (p.Thr561Met) rs759869189 0.00002
NM_001142864.4(PIEZO1):c.3696G>A (p.Leu1232=) rs749151405 0.00002
NM_001142864.4(PIEZO1):c.4444G>T (p.Gly1482Cys) rs764863988 0.00002
NM_001142864.4(PIEZO1):c.4744G>A (p.Glu1582Lys) rs1040063411 0.00002
NM_001142864.4(PIEZO1):c.6692C>T (p.Ser2231Phe) rs575482829 0.00002
NM_001142864.4(PIEZO1):c.7091A>G (p.Asn2364Ser) rs1013412353 0.00002
NM_001159773.2(CANT1):c.258G>A (p.Trp86Ter) rs199762751 0.00002
NM_001164508.2(NEB):c.14755G>C (p.Ala4919Pro) rs1057523555 0.00002
NM_001164508.2(NEB):c.24645G>A (p.Val8215=) rs769610035 0.00002
NM_001164508.2(NEB):c.4283A>G (p.Asn1428Ser) rs565184120 0.00002
NM_001164508.2(NEB):c.6869C>T (p.Ala2290Val) rs756114192 0.00002
NM_001165963.4(SCN1A):c.4096G>A (p.Val1366Ile) rs121918805 0.00002
NM_001170535.3(ATAD3A):c.251C>T (p.Thr84Met) rs546711654 0.00002
NM_001171613.2(PREPL):c.1753+2T>C rs113913634 0.00002
NM_001174147.2(LMX1B):c.783C>T (p.Arg261=) rs371560611 0.00002
NM_001182.5(ALDH7A1):c.607T>G (p.Trp203Gly) rs555896752 0.00002
NM_001195248.2(APTX):c.596del (p.Arg199fs) rs770007531 0.00002
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) rs376712059 0.00002
NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg) rs747538224 0.00002
NM_001232.4(CASQ2):c.164A>G (p.Tyr55Cys) rs1436844070 0.00002
NM_001243279.3(ACSF3):c.1608G>A (p.Trp536Ter) rs201954387 0.00002
NM_001267550.2(TTN):c.10024G>A (p.Val3342Ile) rs727503679 0.00002
NM_001267550.2(TTN):c.101622C>T (p.Asn33874=) rs780835388 0.00002
NM_001267550.2(TTN):c.102363G>A (p.Lys34121=) rs758224214 0.00002
NM_001267550.2(TTN):c.10244C>T (p.Thr3415Met) rs761799688 0.00002
NM_001267550.2(TTN):c.102614G>A (p.Gly34205Asp) rs367926247 0.00002
NM_001267550.2(TTN):c.102965G>A (p.Ser34322Asn) rs763242057 0.00002
NM_001267550.2(TTN):c.103996C>G (p.Pro34666Ala) rs201240519 0.00002
NM_001267550.2(TTN):c.104015C>T (p.Ala34672Val) rs79666048 0.00002
NM_001267550.2(TTN):c.105562A>C (p.Ile35188Leu) rs727504491 0.00002
NM_001267550.2(TTN):c.106954C>T (p.Arg35652Ter) rs565675340 0.00002
NM_001267550.2(TTN):c.107134A>C (p.Asn35712His) rs727504949 0.00002
NM_001267550.2(TTN):c.107255G>A (p.Arg35752His) rs760107623 0.00002
NM_001267550.2(TTN):c.107377+1G>A rs112188483 0.00002
NM_001267550.2(TTN):c.1450G>A (p.Asp484Asn) rs768211726 0.00002
NM_001267550.2(TTN):c.14536G>A (p.Ala4846Thr) rs752150323 0.00002
NM_001267550.2(TTN):c.16157T>C (p.Met5386Thr) rs375417155 0.00002
NM_001267550.2(TTN):c.16464A>C (p.Lys5488Asn) rs760521859 0.00002
NM_001267550.2(TTN):c.16959T>C (p.Asp5653=) rs770260995 0.00002
NM_001267550.2(TTN):c.17319C>T (p.Asp5773=) rs760724229 0.00002
NM_001267550.2(TTN):c.17596G>T (p.Gly5866Cys) rs753136638 0.00002
NM_001267550.2(TTN):c.18542G>A (p.Arg6181Gln) rs201951252 0.00002
NM_001267550.2(TTN):c.18720A>G (p.Arg6240=) rs201395913 0.00002
NM_001267550.2(TTN):c.19263C>T (p.Asp6421=) rs552531581 0.00002
NM_001267550.2(TTN):c.21020T>C (p.Ile7007Thr) rs773611280 0.00002
NM_001267550.2(TTN):c.21689C>T (p.Ala7230Val) rs761223583 0.00002
NM_001267550.2(TTN):c.22412A>G (p.Asp7471Gly) rs760724710 0.00002
NM_001267550.2(TTN):c.25801G>T (p.Val8601Phe) rs184812963 0.00002
NM_001267550.2(TTN):c.2649C>T (p.Phe883=) rs775588479 0.00002
NM_001267550.2(TTN):c.26599G>A (p.Gly8867Arg) rs762113080 0.00002
NM_001267550.2(TTN):c.26985C>A (p.Asp8995Glu) rs781351100 0.00002
NM_001267550.2(TTN):c.27592C>G (p.Gln9198Glu) rs72648995 0.00002
NM_001267550.2(TTN):c.29219A>G (p.Asn9740Ser) rs753121692 0.00002
NM_001267550.2(TTN):c.29245C>T (p.Gln9749Ter) rs746721983 0.00002
NM_001267550.2(TTN):c.32021T>C (p.Leu10674Pro) rs762662455 0.00002
NM_001267550.2(TTN):c.35365C>A (p.Pro11789Thr) rs752662529 0.00002
NM_001267550.2(TTN):c.39469G>A (p.Glu13157Lys) rs761974767 0.00002
NM_001267550.2(TTN):c.39802G>T (p.Val13268Phe) rs759268958 0.00002
NM_001267550.2(TTN):c.3989G>A (p.Arg1330His) rs761402128 0.00002
NM_001267550.2(TTN):c.40989T>C (p.Ser13663=) rs369178648 0.00002
NM_001267550.2(TTN):c.427G>A (p.Glu143Lys) rs754182768 0.00002
NM_001267550.2(TTN):c.45268C>A (p.Gln15090Lys) rs397517579 0.00002
NM_001267550.2(TTN):c.46373G>A (p.Cys15458Tyr) rs377564388 0.00002
NM_001267550.2(TTN):c.48312+3G>T rs368650224 0.00002
NM_001267550.2(TTN):c.4889C>T (p.Ala1630Val) rs371601918 0.00002
NM_001267550.2(TTN):c.49032G>A (p.Val16344=) rs587780980 0.00002
NM_001267550.2(TTN):c.49570C>T (p.Arg16524Cys) rs779336886 0.00002
NM_001267550.2(TTN):c.50531T>C (p.Leu16844Pro) rs764983586 0.00002
NM_001267550.2(TTN):c.51710C>T (p.Thr17237Ile) rs556967635 0.00002
NM_001267550.2(TTN):c.52406-2A>C rs753798236 0.00002
NM_001267550.2(TTN):c.52449C>T (p.Thr17483=) rs374894182 0.00002
NM_001267550.2(TTN):c.53261T>C (p.Phe17754Ser) rs749312983 0.00002
NM_001267550.2(TTN):c.54494G>A (p.Arg18165His) rs574313741 0.00002
NM_001267550.2(TTN):c.56572C>T (p.Arg18858Ter) rs745376275 0.00002
NM_001267550.2(TTN):c.57860G>A (p.Arg19287His) rs371422299 0.00002
NM_001267550.2(TTN):c.5813T>C (p.Val1938Ala) rs781196395 0.00002
NM_001267550.2(TTN):c.58351C>T (p.Arg19451Cys) rs763871350 0.00002
NM_001267550.2(TTN):c.59534G>A (p.Arg19845His) rs201457934 0.00002
NM_001267550.2(TTN):c.61815A>G (p.Ile20605Met) rs761374262 0.00002
NM_001267550.2(TTN):c.61825C>T (p.Arg20609Cys) rs786205389 0.00002
NM_001267550.2(TTN):c.62011G>A (p.Glu20671Lys) rs770684884 0.00002
NM_001267550.2(TTN):c.62609A>C (p.Asn20870Thr) rs376338324 0.00002
NM_001267550.2(TTN):c.64111A>G (p.Arg21371Gly) rs748901968 0.00002
NM_001267550.2(TTN):c.64720G>A (p.Ala21574Thr) rs578085621 0.00002
NM_001267550.2(TTN):c.66349G>A (p.Ala22117Thr) rs727505036 0.00002
NM_001267550.2(TTN):c.67444C>T (p.Arg22482Trp) rs563233842 0.00002
NM_001267550.2(TTN):c.69227T>C (p.Ile23076Thr) rs765930349 0.00002
NM_001267550.2(TTN):c.69554G>A (p.Arg23185Gln) rs201448988 0.00002
NM_001267550.2(TTN):c.70259C>T (p.Pro23420Leu) rs776633672 0.00002
NM_001267550.2(TTN):c.70748C>A (p.Thr23583Lys) rs397517687 0.00002
NM_001267550.2(TTN):c.71608G>A (p.Gly23870Ser) rs727503564 0.00002
NM_001267550.2(TTN):c.71789A>T (p.Lys23930Ile) rs752648041 0.00002
NM_001267550.2(TTN):c.71903A>C (p.Asn23968Thr) rs769320596 0.00002
NM_001267550.2(TTN):c.74378C>T (p.Ser24793Leu) rs766741890 0.00002
NM_001267550.2(TTN):c.74413G>A (p.Val24805Ile) rs371306826 0.00002
NM_001267550.2(TTN):c.74527A>G (p.Asn24843Asp) rs373527654 0.00002
NM_001267550.2(TTN):c.74564C>T (p.Thr24855Ile) rs759432194 0.00002
NM_001267550.2(TTN):c.75832C>T (p.Arg25278Cys) rs777445126 0.00002
NM_001267550.2(TTN):c.77471G>A (p.Arg25824His) rs376051922 0.00002
NM_001267550.2(TTN):c.80228A>C (p.Lys26743Thr) rs368263400 0.00002
NM_001267550.2(TTN):c.82582C>T (p.Arg27528Trp) rs749852593 0.00002
NM_001267550.2(TTN):c.85072A>T (p.Met28358Leu) rs368069666 0.00002
NM_001267550.2(TTN):c.85208G>C (p.Arg28403Thr) rs750869245 0.00002
NM_001267550.2(TTN):c.86140G>A (p.Gly28714Arg) rs532818379 0.00002
NM_001267550.2(TTN):c.87805G>A (p.Val29269Ile) rs727503551 0.00002
NM_001267550.2(TTN):c.90238G>A (p.Ala30080Thr) rs753375022 0.00002
NM_001267550.2(TTN):c.90332T>C (p.Leu30111Pro) rs368516973 0.00002
NM_001267550.2(TTN):c.9176A>T (p.Glu3059Val) rs727504501 0.00002
NM_001267550.2(TTN):c.92612T>C (p.Val30871Ala) rs756610221 0.00002
NM_001267550.2(TTN):c.9348C>G (p.Ile3116Met) rs760230943 0.00002
NM_001267550.2(TTN):c.94064C>T (p.Ala31355Val) rs370666551 0.00002
NM_001267550.2(TTN):c.95873G>A (p.Arg31958Gln) rs763270971 0.00002
NM_001267550.2(TTN):c.97605T>G (p.Ile32535Met) rs760676361 0.00002
NM_001267550.2(TTN):c.9769C>A (p.Arg3257Ser) rs374521620 0.00002
NM_001267550.2(TTN):c.98119G>C (p.Asp32707His) rs1307768306 0.00002
NM_001267550.2(TTN):c.99254G>A (p.Arg33085His) rs777035261 0.00002
NM_001267550.2(TTN):c.99581C>T (p.Pro33194Leu) rs140025425 0.00002
NM_001278116.2(L1CAM):c.1433C>A (p.Ala478Asp) rs1298830102 0.00002
NM_001303.4(COX10):c.674C>T (p.Pro225Leu) rs104894556 0.00002
NM_001303256.3(MORC2):c.187A>T (p.Met63Leu) rs748092969 0.00002
NM_001318510.2(ACSL4):c.90A>G (p.Ile30Met) rs750659716 0.00002
NM_001330260.2(SCN8A):c.1519G>C (p.Glu507Gln) rs777851383 0.00002
NM_001360016.2(G6PD):c.209A>G (p.Tyr70Cys) rs782090947 0.00002
NM_001360016.2(G6PD):c.634A>G (p.Met212Val) rs782754619 0.00002
NM_001363711.2(DUOX2):c.1708C>T (p.Gln570Ter) rs1332668133 0.00002
NM_001365536.1(SCN9A):c.902-2A>C rs773824421 0.00002
NM_001369.3(DNAH5):c.6763C>T (p.Arg2255Ter) rs745918507 0.00002
NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr) rs397514369 0.00002
NM_001374828.1(ARID1B):c.2615T>C (p.Met872Thr) rs761093701 0.00002
NM_001375524.1(TRRAP):c.7630G>A (p.Ala2544Thr) rs1028234458 0.00002
NM_001376.5(DYNC1H1):c.10182A>G (p.Lys3394=) rs867202471 0.00002
NM_001377.3(DYNC2H1):c.8512C>T (p.Arg2838Ter) rs137853032 0.00002
NM_001378183.1(PIEZO2):c.6776T>C (p.Met2259Thr) rs780202686 0.00002
NM_001378609.3(OTOGL):c.5449C>T (p.Arg1817Ter) rs768620276 0.00002
NM_001379110.1(SLC9A6):c.1555G>A (p.Gly519Ser) rs782731165 0.00002
NM_001382.4(DPAGT1):c.790G>A (p.Val264Met) rs745872044 0.00002
NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter) rs202033121 0.00002
NM_001384474.1(LOXHD1):c.4212+1G>A rs889110926 0.00002
NM_001386125.1(OBSCN):c.3040A>T (p.Thr1014Ser) rs779774732 0.00002
NM_001386393.1(PANK2):c.1253C>T (p.Thr418Met) rs137852967 0.00002
NM_001457.4(FLNB):c.3209C>T (p.Thr1070Ile) rs201533113 0.00002
NM_001458.5(FLNC):c.3295G>A (p.Val1099Ile) rs759452636 0.00002
NM_001458.5(FLNC):c.3812C>G (p.Thr1271Ser) rs778997084 0.00002
NM_001458.5(FLNC):c.5375C>T (p.Ala1792Val) rs200233856 0.00002
NM_001458.5(FLNC):c.5579G>A (p.Arg1860His) rs1019973830 0.00002
NM_001673.5(ASNS):c.1019G>A (p.Arg340His) rs1360484422 0.00002
NM_001734.5(C1S):c.394A>G (p.Ile132Val) rs1198867920 0.00002
NM_001739.2(CA5A):c.721G>A (p.Glu241Lys) rs563971993 0.00002
NM_001845.6(COL4A1):c.1729G>C (p.Gly577Arg) rs752009614 0.00002
NM_001848.3(COL6A1):c.2797G>A (p.Gly933Ser) rs201835072 0.00002
NM_001875.5(CPS1):c.49G>A (p.Gly17Ser) rs868808195 0.00002
NM_001985.3(ETFB):c.382G>A (p.Asp128Asn) rs104894678 0.00002
NM_002047.4(GARS1):c.1553A>G (p.Tyr518Cys) rs753947676 0.00002
NM_002206.3(ITGA7):c.1705C>T (p.Arg569Ter) rs201217202 0.00002
NM_002206.3(ITGA7):c.445C>T (p.Arg149Ter) rs757680080 0.00002
NM_002299.4(LCT):c.3535C>T (p.Gln1179Ter) rs749118441 0.00002
NM_002437.5(MPV17):c.376-9T>G rs368900406 0.00002
NM_002470.4(MYH3):c.375T>C (p.Thr125=) rs762734569 0.00002
NM_002471.4(MYH6):c.2161C>T (p.Arg721Trp) rs387906656 0.00002
NM_002485.5(NBN):c.37+1G>A rs574673404 0.00002
NM_002693.3(POLG):c.1156C>T (p.Arg386Cys) rs199759055 0.00002
NM_002693.3(POLG):c.2665G>A (p.Ala889Thr) rs763393580 0.00002
NM_002693.3(POLG):c.2897T>G (p.Leu966Arg) rs142347031 0.00002
NM_002860.4(ALDH18A1):c.1375C>T (p.Arg459Ter) rs887933055 0.00002
NM_002860.4(ALDH18A1):c.251G>A (p.Arg84Gln) rs121434582 0.00002
NM_002878.4(RAD51D):c.363del (p.Ala122fs) rs730881935 0.00002
NM_003036.4(SKI):c.1400C>T (p.Thr467Met) rs752151031 0.00002
NM_003060.4(SLC22A5):c.1195C>T (p.Arg399Trp) rs267607054 0.00002
NM_003126.4(SPTA1):c.1124T>C (p.Phe375Ser) rs929328527 0.00002
NM_003126.4(SPTA1):c.4398T>G (p.Tyr1466Ter) rs761105413 0.00002
NM_003126.4(SPTA1):c.4580C>G (p.Ser1527Cys) rs746382885 0.00002
NM_003322.6(TULP1):c.1256G>A (p.Arg419Gln) rs770045008 0.00002
NM_003742.4(ABCB11):c.3268C>T (p.Arg1090Ter) rs72549396 0.00002
NM_003742.4(ABCB11):c.3407A>G (p.Lys1136Arg) rs752974260 0.00002
NM_003742.4(ABCB11):c.3691C>T (p.Arg1231Trp) rs766285158 0.00002
NM_003896.4(ST3GAL5):c.282del (p.Met94fs) rs1383734078 0.00002
NM_003919.3(SGCE):c.1025G>A (p.Arg342Gln) rs764696852 0.00002
NM_003982.4(SLC7A7):c.1116C>G (p.Tyr372Ter) rs773357652 0.00002
NM_004006.3(DMD):c.10889G>A (p.Arg3630Gln) rs1057522606 0.00002
NM_004006.3(DMD):c.1573G>A (p.Ala525Thr) rs754158494 0.00002
NM_004006.3(DMD):c.1823C>T (p.Ala608Val) rs189896732 0.00002
NM_004006.3(DMD):c.3232C>T (p.Leu1078Phe) rs375329908 0.00002
NM_004006.3(DMD):c.4981A>G (p.Ile1661Val) rs373475585 0.00002
NM_004006.3(DMD):c.5942C>T (p.Thr1981Met) rs140575687 0.00002
NM_004006.3(DMD):c.7455G>T (p.Trp2485Cys) rs765207227 0.00002
NM_004006.3(DMD):c.8890G>T (p.Gly2964Cys) rs368114420 0.00002
NM_004064.5(CDKN1B):c.206C>T (p.Pro69Leu) rs777354267 0.00002
NM_004183.4(BEST1):c.139C>T (p.Arg47Cys) rs765333778 0.00002
NM_004281.4(BAG3):c.1411G>A (p.Glu471Lys) rs778496291 0.00002
NM_004281.4(BAG3):c.983T>C (p.Val328Ala) rs765627299 0.00002
NM_004284.6(CHD1L):c.1929del (p.Arg643fs) rs782144677 0.00002
NM_004369.4(COL6A3):c.1092C>T (p.Tyr364=) rs548519047 0.00002
NM_004369.4(COL6A3):c.1530C>T (p.Thr510=) rs373281009 0.00002
NM_004369.4(COL6A3):c.5369C>T (p.Ala1790Val) rs140513454 0.00002
NM_004369.4(COL6A3):c.8891C>T (p.Ala2964Val) rs563813743 0.00002
NM_004370.6(COL12A1):c.3151G>C (p.Val1051Leu) rs374540275 0.00002
NM_004387.4(NKX2-5):c.827C>G (p.Ala276Gly) rs751564052 0.00002
NM_004614.5(TK2):c.548G>A (p.Arg183Gln) rs780333412 0.00002
NM_004646.4(NPHS1):c.2464G>A (p.Val822Met) rs267606918 0.00002
NM_004646.4(NPHS1):c.3442C>T (p.Gln1148Ter) rs150855173 0.00002
NM_004975.4(KCNB1):c.1724G>A (p.Arg575His) rs544069848 0.00002
NM_004984.4(KIF5A):c.1076C>T (p.Thr359Met) rs774586838 0.00002
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) rs112445441 0.00002
NM_005198.5(CHKB):c.853G>T (p.Val285Phe) rs754327744 0.00002
NM_005334.3(HCFC1):c.3260C>G (p.Thr1087Ser) rs782325371 0.00002
NM_005379.4(MYO1A):c.2141G>A (p.Arg714His) rs369452147 0.00002
NM_005476.7(GNE):c.2005G>A (p.Gly669Arg) rs776384541 0.00002
NM_005518.4(HMGCS2):c.334C>T (p.Arg112Trp) rs768707273 0.00002
NM_005529.7(HSPG2):c.6228G>A (p.Gly2076=) rs769398456 0.00002
NM_005591.4(MRE11):c.1867+2T>C rs745677716 0.00002
NM_005609.4(PYGM):c.1760T>C (p.Leu587Pro) rs761438921 0.00002
NM_005609.4(PYGM):c.1881C>T (p.Ile627=) rs369361532 0.00002
NM_005609.4(PYGM):c.614G>A (p.Gly205Asp) rs375724338 0.00002
NM_005609.4(PYGM):c.875T>C (p.Leu292Pro) rs780375860 0.00002
NM_005629.4(SLC6A8):c.617G>A (p.Arg206His) rs782620409 0.00002
NM_005633.4(SOS1):c.3592A>G (p.Ile1198Val) rs747534810 0.00002
NM_005912.3(MC4R):c.750_751del (p.Ile251fs) rs13447339 0.00002
NM_006019.4(TCIRG1):c.117+1G>A rs377303800 0.00002
NM_006302.3(MOGS):c.646del (p.Val216fs) rs777654978 0.00002
NM_006432.5(NPC2):c.190+5G>A rs80358268 0.00002
NM_006516.4(SLC2A1):c.322G>A (p.Val108Met) rs74323945 0.00002
NM_006767.4(LZTR1):c.1794C>A (p.Cys598Ter) rs982944299 0.00002
NM_006922.4(SCN3A):c.991C>A (p.Gln331Lys) rs771446983 0.00002
NM_006939.4(SOS2):c.3698A>C (p.Asn1233Thr) rs201756168 0.00002
NM_006946.4(SPTBN2):c.5404G>A (p.Glu1802Lys) rs149317715 0.00002
NM_006996.3(SLC19A2):c.1001G>A (p.Gly334Asp) rs199921604 0.00002
NM_007078.3(LDB3):c.54G>T (p.Gln18His) rs149348427 0.00002
NM_007194.4(CHEK2):c.931G>A (p.Asp311Asn) rs587782347 0.00002
NM_007289.4(MME):c.667C>T (p.Arg223Ter) rs201328537 0.00002
NM_007294.4(BRCA1):c.1250A>G (p.Asn417Ser) rs80357113 0.00002
NM_007294.4(BRCA1):c.2662C>T (p.His888Tyr) rs80357480 0.00002
NM_007347.5(AP4E1):c.275A>G (p.Tyr92Cys) rs773401224 0.00002
NM_012203.2(GRHPR):c.735-1G>A rs180177317 0.00002
NM_012210.4(TRIM32):c.370C>T (p.Arg124Trp) rs572052810 0.00002
NM_012470.4(TNPO3):c.2545A>G (p.Thr849Ala) rs566110160 0.00002
NM_013339.4(ALG6):c.257+2dup rs745426479 0.00002
NM_013382.7(POMT2):c.1261C>T (p.Arg421Trp) rs727502855 0.00002
NM_013382.7(POMT2):c.881A>G (p.Tyr294Cys) rs587780423 0.00002
NM_013432.5(TONSL):c.1459G>A (p.Glu487Lys) rs563710728 0.00002
NM_014049.5(ACAD9):c.1240C>T (p.Arg414Cys) rs777282696 0.00002
NM_014049.5(ACAD9):c.796C>T (p.Arg266Trp) rs753711253 0.00002
NM_014140.4(SMARCAL1):c.2459G>A (p.Arg820His) rs200666300 0.00002
NM_014251.3(SLC25A13):c.1236C>T (p.Asn412=) rs747257110 0.00002
NM_014297.5(ETHE1):c.488G>A (p.Arg163Gln) rs745656120 0.00002
NM_014712.3(SETD1A):c.655C>T (p.Arg219Cys) rs373130363 0.00002
NM_014804.3(KIAA0753):c.970C>T (p.Arg324Ter) rs746068882 0.00002
NM_014855.3(AP5Z1):c.994C>T (p.Leu332=) rs1045333933 0.00002
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter) rs121918204 0.00002
NM_015404.4(WHRN):c.2655C>T (p.Ala885=) rs775402871 0.00002
NM_015459.5(ATL3):c.1500C>T (p.Gly500=) rs202227458 0.00002
NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln) rs765822392 0.00002
NM_015559.3(SETBP1):c.2117A>G (p.Glu706Gly) rs530739140 0.00002
NM_015629.4(PRPF31):c.910C>T (p.Arg304Cys) rs750340477 0.00002
NM_015713.5(RRM2B):c.48G>A (p.Glu16=) rs515726180 0.00002
NM_016011.5(MECR):c.695G>A (p.Gly232Glu) rs762913101 0.00002
NM_016239.4(MYO15A):c.3385C>T (p.Arg1129Ter) rs748868741 0.00002
NM_016239.4(MYO15A):c.6437G>A (p.Arg2146Gln) rs760980785 0.00002
NM_016356.5(DCDC2):c.1099T>A (p.Ser367Thr) rs538198742 0.00002
NM_017534.6(MYH2):c.3460G>A (p.Glu1154Lys) rs376357016 0.00002
NM_017534.6(MYH2):c.5302-7T>C rs867201474 0.00002
NM_017736.5(THUMPD1):c.706C>T (p.Gln236Ter) rs778649204 0.00002
NM_017777.4(MKS1):c.1024+1G>A rs199874059 0.00002
NM_018368.4(LMBRD1):c.1339-1G>T rs768709895 0.00002
NM_018418.5(SPATA7):c.288T>A (p.Cys96Ter) rs767745816 0.00002
NM_018699.4(PRDM5):c.247C>T (p.Arg83Cys) rs761027478 0.00002
NM_018896.5(CACNA1G):c.2014C>T (p.Arg672Trp) rs747347699 0.00002
NM_019098.5(CNGB3):c.1578+1G>A rs372006750 0.00002
NM_020166.5(MCCC1):c.640-2A>G rs772395858 0.00002
NM_020166.5(MCCC1):c.758C>T (p.Pro253Leu) rs202083272 0.00002
NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter) rs185741664 0.00002
NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys) rs119468004 0.00002
NM_020247.5(COQ8A):c.901C>T (p.Arg301Trp) rs140246430 0.00002
NM_020320.5(RARS2):c.25A>G (p.Ile9Val) rs748335175 0.00002
NM_020365.5(EIF2B3):c.674G>A (p.Arg225Gln) rs113994024 0.00002
NM_020458.4(TTC7A):c.2018-1G>C rs948534045 0.00002
NM_020822.3(KCNT1):c.1838G>A (p.Arg613Gln) rs571757257 0.00002
NM_020822.3(KCNT1):c.3196G>A (p.Val1066Met) rs553389226 0.00002
NM_021120.4(DLG3):c.1280G>A (p.Arg427His) rs775293712 0.00002
NM_021120.4(DLG3):c.593G>A (p.Arg198Gln) rs748814438 0.00002
NM_021830.5(TWNK):c.1519G>A (p.Val507Ile) rs369588002 0.00002
NM_021971.4(GMPPB):c.931C>T (p.Arg311Cys) rs371188899 0.00002
NM_022124.6(CDH23):c.5066T>C (p.Met1689Thr) rs397517334 0.00002
NM_022173.4(TIA1):c.1085C>T (p.Pro362Leu) rs757332023 0.00002
NM_022173.4(TIA1):c.1150G>A (p.Glu384Lys) rs747068278 0.00002
NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp) rs121908110 0.00002
NM_024334.3(TMEM43):c.31C>T (p.Arg11Trp) rs201085402 0.00002
NM_024334.3(TMEM43):c.337G>A (p.Val113Met) rs572474708 0.00002
NM_024675.4(PALB2):c.212-2A>G rs730881879 0.00002
NM_024675.4(PALB2):c.995T>A (p.Leu332His) rs377149139 0.00002
NM_024678.6(NARS2):c.151C>T (p.Arg51Cys) rs367584549 0.00002
NM_024757.5(EHMT1):c.2405G>C (p.Cys802Ser) rs763767150 0.00002
NM_024757.5(EHMT1):c.463C>G (p.Leu155Val) rs1003872402 0.00002
NM_024757.5(EHMT1):c.713A>G (p.Asn238Ser) rs1004363452 0.00002
NM_025099.6(CTC1):c.1753C>T (p.Gln585Ter) rs952398755 0.00002
NM_025216.3(WNT10A):c.311G>A (p.Arg104His) rs374910216 0.00002
NM_031844.3(HNRNPU):c.1395A>G (p.Pro465=) rs761416400 0.00002
NM_031844.3(HNRNPU):c.715G>A (p.Gly239Ser) rs1014292464 0.00002
NM_032119.4(ADGRV1):c.17518T>C (p.Tyr5840His) rs757218098 0.00002
NM_032237.5(POMK):c.905T>A (p.Val302Asp) rs199756983 0.00002
NM_032383.5(HPS3):c.1189C>T (p.Arg397Trp) rs121908316 0.00002
NM_032861.4(SERAC1):c.202C>T (p.Arg68Ter) rs529232938 0.00002
NM_033163.5(FGF8):c.451G>A (p.Gly151Ser) rs606231407 0.00002
NM_033337.3(CAV3):c.442C>T (p.Arg148Trp) rs730880422 0.00002
NM_033629.6(TREX1):c.667G>A (p.Ala223Thr) rs766785968 0.00002
NM_054012.4(ASS1):c.1194-1G>C rs727503814 0.00002
NM_054012.4(ASS1):c.370G>A (p.Asp124Asn) rs936192871 0.00002
NM_054012.4(ASS1):c.836G>A (p.Arg279Gln) rs371265106 0.00002
NM_058246.4(DNAJB6):c.479-5T>C rs759259870 0.00002
NM_139315.3(TAF6):c.212T>C (p.Ile71Thr) rs374993554 0.00002
NM_145262.4(GLYCTK):c.37C>T (p.Arg13Ter) rs910401729 0.00002
NM_152305.3(POGLUT1):c.394C>T (p.Arg132Ter) rs140695299 0.00002
NM_152564.5(VPS13B):c.1193C>T (p.Thr398Met) rs753703762 0.00002
NM_152564.5(VPS13B):c.3598C>T (p.Arg1200Ter) rs140353201 0.00002
NM_170707.4(LMNA):c.647G>A (p.Arg216His) rs757041809 0.00002
NM_172107.4(KCNQ2):c.1505C>T (p.Ala502Val) rs375264483 0.00002
NM_173495.3(PTCHD1):c.491G>A (p.Arg164Gln) rs908889815 0.00002
NM_182914.3(SYNE2):c.12695C>T (p.Pro4232Leu) rs139959852 0.00002
NM_182914.3(SYNE2):c.6746G>A (p.Arg2249Gln) rs764036360 0.00002
NM_182961.4(SYNE1):c.24600C>T (p.Phe8200=) rs370421580 0.00002
NM_182961.4(SYNE1):c.25119+3A>G rs1057521423 0.00002
NM_182961.4(SYNE1):c.25223A>G (p.His8408Arg) rs375476506 0.00002
NM_183050.4(BCKDHB):c.1016C>T (p.Ser339Leu) rs398124561 0.00002
NM_194277.3(FRMD7):c.875T>C (p.Leu292Pro) rs192346335 0.00002
NM_194454.3(KRIT1):c.1377A>G (p.Gln459=) rs775375977 0.00002
NM_201253.3(CRB1):c.3988del (p.Glu1330fs) rs1057520152 0.00002
NM_201384.3(PLEC):c.1246G>A (p.Asp416Asn) rs782674838 0.00002
NM_201384.3(PLEC):c.1872C>T (p.Ala624=) rs782547448 0.00002
NM_201384.3(PLEC):c.3787G>A (p.Glu1263Lys) rs377125427 0.00002
NM_201384.3(PLEC):c.7741C>T (p.Arg2581Trp) rs782485083 0.00002
NM_206933.4(USH2A):c.15017C>T (p.Thr5006Met) rs757676723 0.00002
NM_206933.4(USH2A):c.2653C>T (p.His885Tyr) rs746071929 0.00002
NM_206933.4(USH2A):c.3666G>A (p.Ala1222=) rs764479854 0.00002
NM_207122.2(EXT2):c.1393C>T (p.Arg465Ter) rs772690312 0.00002
NM_000016.6(ACADM):c.1115C>A (p.Ala372Asp) rs781424858 0.00001
NM_000016.6(ACADM):c.1257C>A (p.Tyr419Ter) rs753928772 0.00001
NM_000016.6(ACADM):c.216+5G>T rs528788578 0.00001
NM_000016.6(ACADM):c.253G>T (p.Gly85Cys) rs398123075 0.00001
NM_000016.6(ACADM):c.296G>T (p.Gly99Val) rs370608001 0.00001
NM_000016.6(ACADM):c.30+2T>C rs768596219 0.00001
NM_000016.6(ACADM):c.347G>A (p.Cys116Tyr) rs875989859 0.00001
NM_000016.6(ACADM):c.362C>T (p.Thr121Ile) rs121434283 0.00001
NM_000016.6(ACADM):c.503A>C (p.Asp168Ala) rs745844469 0.00001
NM_000016.6(ACADM):c.601del (p.Tyr201fs) rs772650083 0.00001
NM_000016.6(ACADM):c.616C>T (p.Arg206Cys) rs373715782 0.00001
NM_000016.6(ACADM):c.734C>T (p.Ser245Leu) rs121434281 0.00001
NM_000017.4(ACADS):c.1031A>G (p.Glu344Gly) rs387906950 0.00001
NM_000018.4(ACADVL):c.1001T>G (p.Met334Arg) rs398123079 0.00001
NM_000018.4(ACADVL):c.1054A>G (p.Met352Val) rs2071296420 0.00001
NM_000018.4(ACADVL):c.1077+1G>T rs140989450 0.00001
NM_000018.4(ACADVL):c.1182+3G>T rs376281637 0.00001
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His) rs118204016 0.00001
NM_000018.4(ACADVL):c.1357C>T (p.Arg453Ter) rs794727113 0.00001
NM_000018.4(ACADVL):c.1388G>A (p.Gly463Glu) rs200366828 0.00001
NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp) rs113994170 0.00001
NM_000018.4(ACADVL):c.1532G>A (p.Arg511Gln) rs200771970 0.00001
NM_000018.4(ACADVL):c.1820G>A (p.Cys607Tyr) rs200117742 0.00001
NM_000018.4(ACADVL):c.364A>G (p.Asn122Asp) rs1057520088 0.00001
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr) rs727503791 0.00001
NM_000018.4(ACADVL):c.637G>A (p.Ala213Thr) rs140629318 0.00001
NM_000018.4(ACADVL):c.664G>A (p.Gly222Arg) rs398123091 0.00001
NM_000018.4(ACADVL):c.853G>C (p.Glu285Gln) rs202216257 0.00001
NM_000018.4(ACADVL):c.869G>A (p.Gly290Asp) rs866464446 0.00001
NM_000018.4(ACADVL):c.899T>G (p.Met300Arg) rs142765230 0.00001
NM_000019.4(ACAT1):c.138T>C (p.Ser46=) rs763375578 0.00001
NM_000019.4(ACAT1):c.377G>C (p.Cys126Ser) rs1278227329 0.00001
NM_000019.4(ACAT1):c.578T>G (p.Met193Arg) rs541517496 0.00001
NM_000020.3(ACVRL1):c.1436G>A (p.Arg479Gln) rs1085307426 0.00001
NM_000023.4(SGCA):c.157G>A (p.Ala53Thr) rs60407644 0.00001
NM_000023.4(SGCA):c.190G>A (p.Ala64Thr) rs759692350 0.00001
NM_000023.4(SGCA):c.197T>A (p.Leu66His) rs767928766 0.00001
NM_000023.4(SGCA):c.220C>T (p.Arg74Trp) rs757888349 0.00001
NM_000023.4(SGCA):c.308T>C (p.Ile103Thr) rs1161291343 0.00001
NM_000023.4(SGCA):c.354G>A (p.Gln118=) rs772233387 0.00001
NM_000023.4(SGCA):c.37+6T>C rs751466815 0.00001
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys) rs372210292 0.00001
NM_000023.4(SGCA):c.502G>A (p.Gly168Arg) rs199810179 0.00001
NM_000023.4(SGCA):c.585-1G>A rs1342189589 0.00001
NM_000023.4(SGCA):c.700G>A (p.Asp234Asn) rs760608643 0.00001
NM_000023.4(SGCA):c.851G>A (p.Arg284His) rs369359375 0.00001
NM_000023.4(SGCA):c.92T>C (p.Leu31Pro) rs903823830 0.00001
NM_000026.4(ADSL):c.1187G>A (p.Arg396His) rs763542069 0.00001
NM_000026.4(ADSL):c.1339T>C (p.Ser447Pro) rs777821034 0.00001
NM_000026.4(ADSL):c.953C>T (p.Pro318Leu) rs202064195 0.00001
NM_000027.4(AGA):c.1A>G (p.Met1Val) rs1054938291 0.00001
NM_000027.4(AGA):c.800dup (p.Pro268fs) rs386833436 0.00001
NM_000030.3(AGXT):c.107G>A (p.Arg36His) rs180177162 0.00001
NM_000030.3(AGXT):c.302T>C (p.Leu101Pro) rs180177195 0.00001
NM_000032.5(ALAS2):c.1355G>T (p.Arg452Leu) rs863223904 0.00001
NM_000033.4(ABCD1):c.1567C>A (p.Leu523Ile) rs1159943880 0.00001
NM_000033.4(ABCD1):c.1744G>A (p.Val582Ile) rs76180859 0.00001
NM_000033.4(ABCD1):c.1937C>T (p.Ala646Val) rs1258368672 0.00001
NM_000033.4(ABCD1):c.2173G>A (p.Ala725Thr) rs782809184 0.00001
NM_000033.4(ABCD1):c.508G>A (p.Ala170Thr) rs782293513 0.00001
NM_000033.4(ABCD1):c.566G>A (p.Arg189Gln) rs1557052417 0.00001
NM_000038.6(APC):c.7573C>T (p.Arg2525Cys) rs774952444 0.00001
NM_000044.6(AR):c.2270A>G (p.Asn757Ser) rs141425171 0.00001
NM_000045.4(ARG1):c.295G>A (p.Gly99Arg) rs753829097 0.00001
NM_000046.5(ARSB):c.1350G>C (p.Trp450Cys) rs555785323 0.00001
NM_000046.5(ARSB):c.215T>G (p.Leu72Arg) rs397514441 0.00001
NM_000046.5(ARSB):c.284G>A (p.Arg95Gln) rs118203942 0.00001
NM_000046.5(ARSB):c.430G>A (p.Gly144Arg) rs746206847 0.00001
NM_000048.4(ASL):c.1124A>G (p.Tyr375Cys) rs886062406 0.00001
NM_000048.4(ASL):c.1354A>T (p.Ile452Phe) rs1211112295 0.00001
NM_000048.4(ASL):c.280C>T (p.Arg94Cys) rs374304304 0.00001
NM_000048.4(ASL):c.283C>T (p.Arg95Cys) rs28940585 0.00001
NM_000048.4(ASL):c.545G>A (p.Arg182Gln) rs751590073 0.00001
NM_000048.4(ASL):c.602+1G>A rs398123127 0.00001
NM_000048.4(ASL):c.707G>A (p.Arg236Gln) rs764602422 0.00001
NM_000048.4(ASL):c.976C>A (p.Gln326Lys) rs398123129 0.00001
NM_000049.4(ASPA):c.368G>A (p.Gly123Glu) rs1057521115 0.00001
NM_000049.4(ASPA):c.503G>A (p.Arg168His) rs770706390 0.00001
NM_000051.4(ATM):c.1339C>T (p.Arg447Ter) rs587779815 0.00001
NM_000051.4(ATM):c.2T>C (p.Met1Thr) rs786203606 0.00001
NM_000051.4(ATM):c.3G>A (p.Met1Ile) rs781404312 0.00001
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys) rs139770721 0.00001
NM_000051.4(ATM):c.6997dup rs587781299 0.00001
NM_000051.4(ATM):c.7328G>A (p.Arg2443Gln) rs587782310 0.00001
NM_000051.4(ATM):c.742C>T (p.Arg248Ter) rs730881336 0.00001
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys) rs587779872 0.00001
NM_000051.4(ATM):c.875C>T (p.Pro292Leu) rs747727055 0.00001
NM_000053.4(ATP7B):c.1186G>A (p.Glu396Lys) rs763051801 0.00001
NM_000053.4(ATP7B):c.1616C>T (p.Pro539Leu) rs572122562 0.00001
NM_000053.4(ATP7B):c.1924G>C (p.Asp642His) rs72552285 0.00001
NM_000053.4(ATP7B):c.2122-8T>G rs193922102 0.00001
NM_000053.4(ATP7B):c.2131G>T (p.Gly711Trp) rs1394999756 0.00001
NM_000053.4(ATP7B):c.2165dup (p.Arg723fs) rs768729972 0.00001
NM_000053.4(ATP7B):c.2335T>G (p.Trp779Gly) rs751798708 0.00001
NM_000053.4(ATP7B):c.2512A>G (p.Lys838Glu) rs748113748 0.00001
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val) rs121907994 0.00001
NM_000053.4(ATP7B):c.3243+1G>A rs748819198 0.00001
NM_000053.4(ATP7B):c.3295G>A (p.Gly1099Ser) rs761632029 0.00001
NM_000053.4(ATP7B):c.3305T>C (p.Ile1102Thr) rs560952220 0.00001
NM_000053.4(ATP7B):c.3532A>G (p.Thr1178Ala) rs1387431334 0.00001
NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser) rs786204547 0.00001
NM_000053.4(ATP7B):c.3741C>G (p.His1247Gln) rs767464491 0.00001
NM_000053.4(ATP7B):c.3784G>T (p.Val1262Phe) rs769484789 0.00001
NM_000057.4(BLM):c.1301C>G (p.Ser434Ter) rs754203833 0.00001
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs) rs786204471 0.00001
NM_000057.4(BLM):c.3878A>G (p.Glu1293Gly) rs746979958 0.00001
NM_000059.4(BRCA2):c.10220A>G (p.Asn3407Ser) rs80358401 0.00001
NM_000059.4(BRCA2):c.4534C>T (p.Arg1512Cys) rs80358684 0.00001
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785 0.00001
NM_000059.4(BRCA2):c.5729A>T (p.Asn1910Ile) rs276174863 0.00001
NM_000059.4(BRCA2):c.681+1G>A rs398122565 0.00001
NM_000059.4(BRCA2):c.7628A>G (p.Tyr2543Cys) rs431825354 0.00001
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014 0.00001
NM_000059.4(BRCA2):c.793+1G>A rs81002846 0.00001
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) rs80359035 0.00001
NM_000059.4(BRCA2):c.8309C>A (p.Ala2770Asp) rs28897750 0.00001
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075 0.00001
NM_000059.4(BRCA2):c.8524C>T (p.Arg2842Cys) rs80359104 0.00001
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys) rs80359152 0.00001
NM_000059.4(BRCA2):c.9032T>C (p.Leu3011Pro) rs80359155 0.00001
NM_000059.4(BRCA2):c.9364G>A (p.Ala3122Thr) rs587782313 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000059.4(BRCA2):c.9648+1G>C rs730881573 0.00001
NM_000062.3(SERPING1):c.640A>T (p.Thr214Ser) rs749484478 0.00001
NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His) rs80338777 0.00001
NM_000069.3(CACNA1S):c.2245G>A (p.Glu749Lys) rs1313818230 0.00001
NM_000069.3(CACNA1S):c.2269C>T (p.Arg757Ter) rs770073633 0.00001
NM_000069.3(CACNA1S):c.2276G>A (p.Arg759His) rs771314646 0.00001
NM_000069.3(CACNA1S):c.2366G>A (p.Arg789His) rs1157720606 0.00001
NM_000069.3(CACNA1S):c.3112C>T (p.Arg1038Cys) rs1473668614 0.00001
NM_000069.3(CACNA1S):c.3584T>C (p.Ile1195Thr) rs200366112 0.00001
NM_000069.3(CACNA1S):c.4546G>C (p.Asp1516His) rs764330337 0.00001
NM_000069.3(CACNA1S):c.4798-2A>G rs1428157373 0.00001
NM_000069.3(CACNA1S):c.826G>A (p.Asp276Asn) rs757755172 0.00001
NM_000070.3(CAPN3):c.1063C>T (p.Arg355Trp) rs749099493 0.00001
NM_000070.3(CAPN3):c.1257T>G (p.Asp419Glu) rs139836397 0.00001
NM_000070.3(CAPN3):c.1309C>T (p.Arg437Cys) rs777483913 0.00001
NM_000070.3(CAPN3):c.1318C>T (p.Arg440Trp) rs777323132 0.00001
NM_000070.3(CAPN3):c.133G>A (p.Ala45Thr) rs774048743 0.00001
NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys) rs776043976 0.00001
NM_000070.3(CAPN3):c.1381C>T (p.Arg461Cys) rs1274808359 0.00001
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys) rs794726871 0.00001
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp) rs142004418 0.00001
NM_000070.3(CAPN3):c.1636C>T (p.Arg546Cys) rs372438001 0.00001
NM_000070.3(CAPN3):c.1722del (p.Ser575fs) rs1366387924 0.00001
NM_000070.3(CAPN3):c.2092C>T (p.Arg698Cys) rs764370512 0.00001
NM_000070.3(CAPN3):c.2105C>T (p.Ala702Val) rs886042557 0.00001
NM_000070.3(CAPN3):c.2440-1G>A rs886044052 0.00001
NM_000070.3(CAPN3):c.264T>G (p.Phe88Leu) rs760626912 0.00001
NM_000070.3(CAPN3):c.363C>G (p.Ile121Met) rs901764287 0.00001
NM_000070.3(CAPN3):c.633G>C (p.Lys211Asn) rs779701414 0.00001
NM_000070.3(CAPN3):c.755T>C (p.Met252Thr) rs1555420652 0.00001
NM_000071.3(CBS):c.1111G>A (p.Val371Met) rs372010465 0.00001
NM_000071.3(CBS):c.284T>C (p.Ile95Thr) rs1347662650 0.00001
NM_000080.4(CHRNE):c.1033-1G>C rs755303686 0.00001
NM_000080.4(CHRNE):c.529_551del (p.Glu177fs) rs758687208 0.00001
NM_000080.4(CHRNE):c.632C>T (p.Pro211Leu) rs773916039 0.00001
NM_000081.4(LYST):c.8358+2T>C rs1157079200 0.00001
NM_000082.4(ERCC8):c.173+1G>A rs1476095782 0.00001
NM_000083.3(CLCN1):c.1012C>T (p.Arg338Ter) rs759761559 0.00001
NM_000083.3(CLCN1):c.1243G>C (p.Ala415Pro) rs1023099235 0.00001
NM_000083.3(CLCN1):c.1399A>G (p.Lys467Glu) rs149892539 0.00001
NM_000083.3(CLCN1):c.1471+1G>A rs375596425 0.00001
NM_000083.3(CLCN1):c.1478C>A (p.Ala493Glu) rs770900468 0.00001
NM_000083.3(CLCN1):c.1930+1G>A rs771002652 0.00001
NM_000083.3(CLCN1):c.871G>A (p.Glu291Lys) rs121912805 0.00001
NM_000083.3(CLCN1):c.959C>T (p.Ala320Val) rs1478129213 0.00001
NM_000085.5(CLCNKB):c.937_940dup (p.Arg314delinsLysTer) rs779593707 0.00001
NM_000088.4(COL1A1):c.1045G>T (p.Val349Phe) rs72645362 0.00001
NM_000088.4(COL1A1):c.3100-5G>A rs751822769 0.00001
NM_000088.4(COL1A1):c.3556C>G (p.Pro1186Ala) rs766461654 0.00001
NM_000089.4(COL1A2):c.2634G>A (p.Ser878=) rs762339011 0.00001
NM_000089.4(COL1A2):c.838G>A (p.Gly280Ser) rs72656387 0.00001
NM_000091.5(COL4A3):c.1270G>T (p.Gly424Cys) rs776919202 0.00001
NM_000091.5(COL4A3):c.2096T>C (p.Ile699Thr) rs754146345 0.00001
NM_000091.5(COL4A3):c.343G>A (p.Gly115Arg) rs202147112 0.00001
NM_000091.5(COL4A3):c.520G>A (p.Gly174Arg) rs1014839148 0.00001
NM_000092.5(COL4A4):c.1045C>T (p.Arg349Ter) rs534522842 0.00001
NM_000092.5(COL4A4):c.1203A>G (p.Ala401=) rs778832152 0.00001
NM_000092.5(COL4A4):c.1441G>A (p.Gly481Ser) rs181528936 0.00001
NM_000092.5(COL4A4):c.3452G>C (p.Gly1151Ala) rs371803356 0.00001
NM_000092.5(COL4A4):c.4091-12T>C rs759175039 0.00001
NM_000092.5(COL4A4):c.4538G>A (p.Cys1513Tyr) rs1962651394 0.00001
NM_000093.5(COL5A1):c.5206G>A (p.Ala1736Thr) rs753339980 0.00001
NM_000094.4(COL7A1):c.5314C>T (p.Arg1772Trp) rs1032335328 0.00001
NM_000094.4(COL7A1):c.7485+5G>A rs988031901 0.00001
NM_000094.4(COL7A1):c.7865G>A (p.Arg2622Gln) rs368529673 0.00001
NM_000098.3(CPT2):c.1816_1817del (p.Val606fs) rs908749525 0.00001
NM_000098.3(CPT2):c.28_29insAGCAAG (p.Trp10Ter) rs1374482155 0.00001
NM_000098.3(CPT2):c.341-2A>G rs752468216 0.00001
NM_000103.4(CYP19A1):c.1232A>G (p.Asn411Ser) rs375990501 0.00001
NM_000103.4(CYP19A1):c.200G>A (p.Trp67Ter) rs371981915 0.00001
NM_000104.4(CYP1B1):c.840C>A (p.Cys280Ter) rs778202993 0.00001
NM_000108.5(DLD):c.803_804del (p.Gln268fs) rs764611160 0.00001
NM_000108.5(DLD):c.875+1G>A rs1328820332 0.00001
NM_000110.4(DPYD):c.321+1G>A rs746368304 0.00001
NM_000126.4(ETFA):c.667C>T (p.Arg223Ter) rs769976586 0.00001
NM_000128.4(F11):c.1186C>T (p.Arg396Cys) rs771896253 0.00001
NM_000128.4(F11):c.1234C>T (p.Gln412Ter) rs538083600 0.00001
NM_000128.4(F11):c.1247G>A (p.Cys416Tyr) rs779802284 0.00001
NM_000128.4(F11):c.1253G>T (p.Gly418Val) rs121965071 0.00001
NM_000128.4(F11):c.1432G>A (p.Gly478Arg) rs542967227 0.00001
NM_000128.4(F11):c.166T>C (p.Cys56Arg) rs121965069 0.00001
NM_000128.4(F11):c.1718G>A (p.Gly573Glu) rs754109115 0.00001
NM_000128.4(F11):c.67C>T (p.Gln23Ter) rs768409400 0.00001
NM_000135.4(FANCA):c.1226-2A>G rs773906241 0.00001
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter) rs752160950 0.00001
NM_000135.4(FANCA):c.2601+1G>T rs1188581065 0.00001
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro) rs780825099 0.00001
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe) rs753700179 0.00001
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys) rs745882980 0.00001
NM_000135.4(FANCA):c.580C>T (p.Gln194Ter) rs1384166265 0.00001
NM_000135.4(FANCA):c.709+5G>A rs759877008 0.00001
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter) rs1291524243 0.00001
NM_000135.4(FANCA):c.971T>G (p.Leu324Arg) rs1447363475 0.00001
NM_000136.3(FANCC):c.1417C>T (p.Gln473Ter) rs1410356625 0.00001
NM_000136.3(FANCC):c.1533+1G>C rs753885687 0.00001
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) rs121917784 0.00001
NM_000136.3(FANCC):c.535C>T (p.Arg179Ter) rs769039987 0.00001
NM_000137.4(FAH):c.315-3C>G rs1171235203 0.00001
NM_000138.5(FBN1):c.5546-4A>C rs919423974 0.00001
NM_000138.5(FBN1):c.7916A>G (p.Tyr2639Cys) rs794728280 0.00001
NM_000141.5(FGFR2):c.755C>T (p.Ser252Leu) rs79184941 0.00001
NM_000143.4(FH):c.1255T>C (p.Ser419Pro) rs200004220 0.00001
NM_000151.4(G6PC1):c.230+1G>C rs863224023 0.00001
NM_000151.4(G6PC1):c.370G>A (p.Ala124Thr) rs104894568 0.00001
NM_000152.5(GAA):c.1123C>T (p.Arg375Cys) rs372486238 0.00001
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe) rs886043148 0.00001
NM_000152.5(GAA):c.1447G>A (p.Gly483Arg) rs770590394 0.00001
NM_000152.5(GAA):c.1556T>C (p.Met519Thr) rs786204720 0.00001
NM_000152.5(GAA):c.1564C>T (p.Pro522Ser) rs892129065 0.00001
NM_000152.5(GAA):c.1799G>A (p.Arg600His) rs377544304 0.00001
NM_000152.5(GAA):c.1876T>G (p.Ser626Ala) rs1235035841 0.00001
NM_000152.5(GAA):c.2221G>A (p.Asp741Asn) rs755272974 0.00001
NM_000152.5(GAA):c.2296T>A (p.Tyr766Asn) rs941181575 0.00001
NM_000152.5(GAA):c.2647-7G>A rs192679574 0.00001
NM_000152.5(GAA):c.568C>T (p.Arg190Cys) rs771258854 0.00001
NM_000152.5(GAA):c.615G>A (p.Pro205=) rs141427808 0.00001
NM_000152.5(GAA):c.670C>T (p.Arg224Trp) rs757700700 0.00001
NM_000152.5(GAA):c.876C>T (p.Tyr292=) rs763216519 0.00001
NM_000153.4(GALC):c.1630G>A (p.Asp544Asn) rs387906952 0.00001
NM_000153.4(GALC):c.1949T>C (p.Leu650Pro) rs1249991480 0.00001
NM_000153.4(GALC):c.195+1G>A rs1009872980 0.00001
NM_000153.4(GALC):c.332G>A (p.Gly111Asp) rs746487628 0.00001
NM_000153.4(GALC):c.489G>A (p.Trp163Ter) rs761550284 0.00001
NM_000154.2(GALK1):c.82C>A (p.Pro28Thr) rs104894572 0.00001
NM_000155.4(GALT):c.290A>G (p.Asn97Ser) rs111033669 0.00001
NM_000155.4(GALT):c.556C>T (p.His186Tyr) rs111033725 0.00001
NM_000155.4(GALT):c.691C>T (p.Arg231Cys) rs111033749 0.00001
NM_000155.4(GALT):c.772C>T (p.Arg258Cys) rs368166217 0.00001
NM_000155.4(GALT):c.775C>T (p.Arg259Trp) rs786204763 0.00001
NM_000155.4(GALT):c.883C>A (p.Pro295Thr) rs111033783 0.00001
NM_000155.4(GALT):c.974C>T (p.Pro325Leu) rs111033794 0.00001
NM_000156.6(GAMT):c.224C>T (p.Ala75Val) rs1441030187 0.00001
NM_000156.6(GAMT):c.506G>A (p.Cys169Tyr) rs121909272 0.00001
NM_000157.4(GBA1):c.1049A>G (p.His350Arg) rs78198234 0.00001
NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser) rs121908311 0.00001
NM_000157.4(GBA1):c.593C>T (p.Pro198Leu) rs80222298 0.00001
NM_000157.4(GBA1):c.604C>T (p.Arg202Ter) rs1009850780 0.00001
NM_000157.4(GBA1):c.695G>A (p.Gly232Glu) rs1376479747 0.00001
NM_000157.4(GBA1):c.701G>A (p.Gly234Glu) rs74462743 0.00001
NM_000157.4(GBA1):c.764T>A (p.Phe255Tyr) rs74500255 0.00001
NM_000158.4(GBE1):c.429G>T (p.Lys143Asn) rs376374984 0.00001
NM_000159.4(GCDH):c.1060G>A (p.Gly354Ser) rs768925619 0.00001
NM_000159.4(GCDH):c.1189G>A (p.Glu397Lys) rs1555751336 0.00001
NM_000159.4(GCDH):c.356C>T (p.Ser119Leu) rs886043840 0.00001
NM_000159.4(GCDH):c.383G>A (p.Arg128Gln) rs755586631 0.00001
NM_000159.4(GCDH):c.482G>A (p.Arg161Gln) rs777201305 0.00001
NM_000159.4(GCDH):c.532G>A (p.Gly178Arg) rs749452002 0.00001
NM_000159.4(GCDH):c.647C>T (p.Ser216Leu) rs1449724176 0.00001
NM_000159.4(GCDH):c.764C>T (p.Ser255Leu) rs758503371 0.00001
NM_000165.5(GJA1):c.443G>A (p.Arg148Gln) rs962041031 0.00001
NM_000166.6(GJB1):c.-103C>T rs863224971 0.00001
NM_000169.3(GLA):c.1087C>T (p.Arg363Cys) rs797044776 0.00001
NM_000169.3(GLA):c.361G>A (p.Ala121Thr) rs782197638 0.00001
NM_000169.3(GLA):c.870G>C (p.Met290Ile) rs869312438 0.00001
NM_000170.3(GLDC):c.1382G>A (p.Arg461Gln) rs386833524 0.00001
NM_000170.3(GLDC):c.1525C>G (p.Pro509Ala) rs557412758 0.00001
NM_000171.4(GLRA1):c.523A>G (p.Met175Val) rs121918414 0.00001
NM_000175.5(GPI):c.1009G>A (p.Ala337Thr) rs1238884216 0.00001
NM_000178.4(GSS):c.847C>T (p.Arg283Cys) rs121909309 0.00001
NM_000179.3(MSH6):c.1190A>G (p.Tyr397Cys) rs63750065 0.00001
NM_000179.3(MSH6):c.1660C>T (p.Arg554Cys) rs775716798 0.00001
NM_000179.3(MSH6):c.1970A>G (p.Gln657Arg) rs1459883720 0.00001
NM_000179.3(MSH6):c.2057G>A (p.Gly686Asp) rs587779227 0.00001
NM_000179.3(MSH6):c.261-1G>C rs863225402 0.00001
NM_000179.3(MSH6):c.713C>A (p.Ser238Tyr) rs587782510 0.00001
NM_000181.4(GUSB):c.1084G>A (p.Asp362Asn) rs398123234 0.00001
NM_000181.4(GUSB):c.1881G>T (p.Trp627Cys) rs121918184 0.00001
NM_000181.4(GUSB):c.328C>T (p.Arg110Ter) rs1053785648 0.00001
NM_000187.4(HGD):c.365C>T (p.Ala122Val) rs544956641 0.00001
NM_000187.4(HGD):c.673C>T (p.Arg225Cys) rs756789146 0.00001
NM_000188.3(HK1):c.2539G>A (p.Glu847Lys) rs777849213 0.00001
NM_000195.5(HPS1):c.988-1G>T rs764927038 0.00001
NM_000199.5(SGSH):c.812C>T (p.Thr271Met) rs746776254 0.00001
NM_000202.8(IDS):c.1477C>T (p.Arg493Cys) rs782190885 0.00001
NM_000202.8(IDS):c.934G>A (p.Gly312Ser) rs903259179 0.00001
NM_000203.5(IDUA):c.1045G>A (p.Asp349Asn) rs368454909 0.00001
NM_000203.5(IDUA):c.1087C>T (p.Arg363Cys) rs750496798 0.00001
NM_000203.5(IDUA):c.245A>C (p.His82Pro) rs794727239 0.00001
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro) rs794726878 0.00001
NM_000203.5(IDUA):c.898G>A (p.Ala300Thr) rs121965030 0.00001
NM_000215.4(JAK3):c.1767C>T (p.Gly589=) rs193922362 0.00001
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458 0.00001
NM_000218.3(KCNQ1):c.1615C>T (p.Arg539Trp) rs199472795 0.00001
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln) rs199472815 0.00001
NM_000228.3(LAMB3):c.1455G>A (p.Pro485=) rs1033335294 0.00001
NM_000231.3(SGCG):c.101G>A (p.Arg34His) rs755404457 0.00001
NM_000231.3(SGCG):c.158T>C (p.Leu53Pro) rs781760379 0.00001
NM_000231.3(SGCG):c.581T>C (p.Leu194Ser) rs547818652 0.00001
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr) rs104894422 0.00001
NM_000232.5(SGCB):c.265G>A (p.Val89Met) rs762652676 0.00001
NM_000232.5(SGCB):c.271C>T (p.Arg91Cys) rs555514820 0.00001
NM_000232.5(SGCB):c.346A>G (p.Met116Val) rs752168132 0.00001
NM_000232.5(SGCB):c.355A>T (p.Ile119Phe) rs762412447 0.00001
NM_000232.5(SGCB):c.452C>G (p.Thr151Arg) rs28936383 0.00001
NM_000232.5(SGCB):c.499G>A (p.Gly167Ser) rs779516489 0.00001
NM_000232.5(SGCB):c.544A>C (p.Thr182Pro) rs751427686 0.00001
NM_000233.4(LHCGR):c.1660C>T (p.Arg554Ter) rs121912524 0.00001
NM_000238.4(KCNH2):c.38C>A (p.Thr13Asn) rs758978727 0.00001
NM_000249.4(MLH1):c.1117G>A (p.Gly373Arg) rs766904735 0.00001
NM_000249.4(MLH1):c.1421G>A (p.Arg474Gln) rs63751083 0.00001
NM_000249.4(MLH1):c.1517T>C (p.Val506Ala) rs63749909 0.00001
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp) rs63751275 0.00001
NM_000249.4(MLH1):c.704A>T (p.Asp235Val) rs587781505 0.00001
NM_000251.3(MSH2):c.274C>G (p.Leu92Val) rs587779154 0.00001
NM_000251.3(MSH2):c.716A>G (p.Gln239Arg) rs199676483 0.00001
NM_000251.3(MSH2):c.728G>A (p.Arg243Gln) rs63751455 0.00001
NM_000252.3(MTM1):c.110G>A (p.Arg37Gln) rs868992080 0.00001
NM_000256.3(MYBPC3):c.1227-13G>A rs397515893 0.00001
NM_000256.3(MYBPC3):c.3362G>A (p.Arg1121His) rs397516018 0.00001
NM_000256.3(MYBPC3):c.821+1G>A rs397516073 0.00001
NM_000257.4(MYH7):c.1358G>A (p.Arg453His) rs397516101 0.00001
NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp) rs267606911 0.00001
NM_000257.4(MYH7):c.2168G>A (p.Arg723His) rs397516135 0.00001
NM_000257.4(MYH7):c.2347C>T (p.Arg783Cys) rs727503258 0.00001
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly) rs397516161 0.00001
NM_000257.4(MYH7):c.3235C>T (p.Arg1079Trp) rs192722540 0.00001
NM_000257.4(MYH7):c.3801G>C (p.Gln1267His) rs200000290 0.00001
NM_000257.4(MYH7):c.4075C>T (p.Arg1359Cys) rs45451303 0.00001
NM_000257.4(MYH7):c.4145G>A (p.Arg1382Gln) rs727504325 0.00001
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) rs397516209 0.00001
NM_000257.4(MYH7):c.4520-3C>T rs549509054 0.00001
NM_000257.4(MYH7):c.4817G>A (p.Arg1606His) rs373514686 0.00001
NM_000257.4(MYH7):c.5500G>A (p.Ala1834Thr) rs143362532 0.00001
NM_000257.4(MYH7):c.5530G>A (p.Glu1844Lys) rs730880821 0.00001
NM_000258.3(MYL3):c.446T>C (p.Met149Thr) rs202141423 0.00001
NM_000260.4(MYO7A):c.1189G>A (p.Ala397Thr) rs1297886521 0.00001
NM_000260.4(MYO7A):c.2187+1G>A rs111033290 0.00001
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg) rs727503329 0.00001
NM_000263.4(NAGLU):c.1927C>T (p.Arg643Cys) rs104894594 0.00001
NM_000268.4(NF2):c.215T>C (p.Val72Ala) rs1260510937 0.00001
NM_000271.5(NPC1):c.1165C>T (p.Arg389Cys) rs1053321823 0.00001
NM_000271.5(NPC1):c.2728G>A (p.Gly910Ser) rs768999208 0.00001
NM_000271.5(NPC1):c.2780C>T (p.Ala927Val) rs753768576 0.00001
NM_000271.5(NPC1):c.2848G>A (p.Val950Met) rs120074135 0.00001
NM_000271.5(NPC1):c.2933G>A (p.Arg978His) rs752728865 0.00001
NM_000274.4(OAT):c.698A>G (p.Gln233Arg) rs386833615 0.00001
NM_000274.4(OAT):c.800C>T (p.Thr267Ile) rs386833618 0.00001
NM_000274.4(OAT):c.991C>T (p.Arg331Ter) rs386833623 0.00001
NM_000277.3(PAH):c.1174T>A (p.Phe392Ile) rs180819807 0.00001
NM_000277.3(PAH):c.1184C>G (p.Ala395Gly) rs62508736 0.00001
NM_000277.3(PAH):c.320A>G (p.His107Arg) rs542645236 0.00001
NM_000277.3(PAH):c.463C>T (p.Arg155Cys) rs539743701 0.00001
NM_000277.3(PAH):c.545A>G (p.Glu182Gly) rs199475617 0.00001
NM_000277.3(PAH):c.561G>A (p.Trp187Ter) rs62507336 0.00001
NM_000277.3(PAH):c.665A>G (p.Asp222Gly) rs62507319 0.00001
NM_000277.3(PAH):c.728G>A (p.Arg243Gln) rs62508588 0.00001
NM_000277.3(PAH):c.932T>C (p.Leu311Pro) rs62642936 0.00001
NM_000277.3(PAH):c.941C>A (p.Pro314His) rs62642940 0.00001
NM_000277.3(PAH):c.969+6T>A rs62517196 0.00001
NM_000282.4(PCCA):c.1268C>T (p.Pro423Leu) rs1443858896 0.00001
NM_000282.4(PCCA):c.1426C>T (p.Arg476Ter) rs768703749 0.00001
NM_000282.4(PCCA):c.1855C>T (p.Arg619Ter) rs1194679272 0.00001
NM_000282.4(PCCA):c.2062T>C (p.Cys688Arg) rs774949844 0.00001
NM_000282.4(PCCA):c.230G>A (p.Arg77Gln) rs1387778734 0.00001
NM_000283.4(PDE6B):c.1920+2T>C rs763996159 0.00001
NM_000288.4(PEX7):c.854A>G (p.His285Arg) rs62653611 0.00001
NM_000289.6(PFKM):c.1500+1G>A rs770066278 0.00001
NM_000291.4(PGK1):c.758T>C (p.Ile253Thr) rs137852534 0.00001
NM_000298.6(PKLR):c.1082A>C (p.Asn361Thr) rs1358047518 0.00001
NM_000298.6(PKLR):c.1151C>T (p.Thr384Met) rs74315362 0.00001
NM_000298.6(PKLR):c.1269G>A (p.Ala423=) rs774652817 0.00001
NM_000298.6(PKLR):c.1270-5T>G rs767981368 0.00001
NM_000298.6(PKLR):c.1277G>A (p.Arg426Gln) rs768002493 0.00001
NM_000298.6(PKLR):c.1373G>A (p.Gly458Asp) rs755522396 0.00001
NM_000298.6(PKLR):c.1493G>A (p.Arg498His) rs758327704 0.00001
NM_000298.6(PKLR):c.1595G>A (p.Arg532Gln) rs758278200 0.00001
NM_000298.6(PKLR):c.1675C>T (p.Arg559Ter) rs532230312 0.00001
NM_000298.6(PKLR):c.307del (p.Arg103fs) rs1433205059 0.00001
NM_000298.6(PKLR):c.514G>C (p.Glu172Gln) rs757359024 0.00001
NM_000298.6(PKLR):c.656T>C (p.Ile219Thr) rs200572803 0.00001
NM_000310.4(PPT1):c.628-1G>T rs386833659 0.00001
NM_000312.4(PROC):c.1000G>A (p.Gly334Ser) rs121918150 0.00001
NM_000317.3(PTS):c.155A>G (p.Asn52Ser) rs104894275 0.00001
NM_000318.3(PEX2):c.624dup (p.Pro209fs) rs1438831421 0.00001
NM_000321.3(RB1):c.1667G>A (p.Arg556Gln) rs773116120 0.00001
NM_000321.3(RB1):c.2393G>A (p.Arg798Gln) rs374523971 0.00001
NM_000321.3(RB1):c.560C>T (p.Ser187Phe) rs770277291 0.00001
NM_000324.3(RHAG):c.140T>C (p.Phe47Ser) rs2127360274 0.00001
NM_000334.4(SCN4A):c.1000G>A (p.Asp334Asn) rs766055241 0.00001
NM_000334.4(SCN4A):c.2023C>T (p.Arg675Trp) rs121908556 0.00001
NM_000334.4(SCN4A):c.4484T>C (p.Ile1495Thr) rs1318966106 0.00001
NM_000334.4(SCN4A):c.786C>T (p.Ser262=) rs746749167 0.00001
NM_000335.5(SCN5A):c.1045G>A (p.Asp349Asn) rs779687673 0.00001
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp) rs137854602 0.00001
NM_000335.5(SCN5A):c.4892G>A (p.Arg1631His) rs199473286 0.00001
NM_000335.5(SCN5A):c.845G>A (p.Arg282His) rs199473083 0.00001
NM_000342.3(SLC4A1):c.1462G>A (p.Val488Met) rs28931584 0.00001
NM_000342.4(SLC4A1):c.1181T>C (p.Leu394Pro) rs768426818 0.00001
NM_000342.4(SLC4A1):c.1331C>A (p.Thr444Asn) rs754973425 0.00001
NM_000342.4(SLC4A1):c.1468C>T (p.Arg490Cys) rs1398477044 0.00001
NM_000342.4(SLC4A1):c.1476G>A (p.Trp492Ter) rs1359458155 0.00001
NM_000342.4(SLC4A1):c.1669G>A (p.Val557Met) rs121912743 0.00001
NM_000342.4(SLC4A1):c.173A>G (p.Tyr58Cys) rs368863744 0.00001
NM_000349.3(STAR):c.545G>A (p.Arg182His) rs104894086 0.00001
NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys) rs61749420 0.00001
NM_000350.3(ABCA4):c.4532C>A (p.Pro1511His) rs886046564 0.00001
NM_000350.3(ABCA4):c.4739T>C (p.Leu1580Ser) rs777415466 0.00001
NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp) rs61750155 0.00001
NM_000350.3(ABCA4):c.868C>T (p.Arg290Trp) rs781716640 0.00001
NM_000352.6(ABCC8):c.331G>A (p.Gly111Arg) rs761749884 0.00001
NM_000352.6(ABCC8):c.338C>T (p.Ala113Val) rs2133711315 0.00001
NM_000352.6(ABCC8):c.4478G>A (p.Arg1493Gln) rs746480424 0.00001
NM_000353.3(TAT):c.1297C>T (p.Arg433Trp) rs761817519 0.00001
NM_000359.3(TGM1):c.428G>A (p.Arg143His) rs121918719 0.00001
NM_000359.3(TGM1):c.652G>A (p.Gly218Ser) rs121918732 0.00001
NM_000359.3(TGM1):c.790C>T (p.Arg264Trp) rs201868387 0.00001
NM_000359.3(TGM1):c.943C>T (p.Arg315Cys) rs397514525 0.00001
NM_000360.4(TH):c.1103C>T (p.Thr368Met) rs1057520384 0.00001
NM_000360.4(TH):c.5C>T (p.Pro2Leu) rs139474171 0.00001
NM_000360.4(TH):c.646G>A (p.Gly216Ser) rs762304556 0.00001
NM_000360.4(TH):c.850G>A (p.Gly284Ser) rs1288483479 0.00001
NM_000365.6(TPI1):c.569G>A (p.Arg190Gln) rs1565538350 0.00001
NM_000368.5(TSC1):c.2896T>C (p.Tyr966His) rs767946427 0.00001
NM_000368.5(TSC1):c.2926A>G (p.Lys976Glu) rs796053448 0.00001
NM_000371.4(TTR):c.238A>G (p.Thr80Ala) rs121918070 0.00001
NM_000372.5(TYR):c.230_232dup (p.Arg77_Glu78insGly) rs61753187 0.00001
NM_000374.5(UROD):c.616C>T (p.Gln206Ter) rs771824413 0.00001
NM_000384.3(APOB):c.7564C>T (p.Arg2522Ter) rs121918390 0.00001
NM_000384.3(APOB):c.9175C>T (p.Arg3059Cys) rs146377316 0.00001
NM_000388.4(CASR):c.1393C>T (p.Arg465Trp) rs751217000 0.00001
NM_000388.4(CASR):c.2303G>T (p.Gly768Val) rs201858689 0.00001
NM_000391.4(TPP1):c.1222_1224del (p.Ser408del) rs1474804613 0.00001
NM_000391.4(TPP1):c.1417G>A (p.Gly473Arg) rs121908203 0.00001
NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu) rs121908202 0.00001
NM_000391.4(TPP1):c.617G>A (p.Arg206His) rs121908209 0.00001
NM_000398.7(CYB5R3):c.574C>T (p.Arg192Cys) rs543277216 0.00001
NM_000398.7(CYB5R3):c.719A>G (p.Asp240Gly) rs121965018 0.00001
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr) rs76645461 0.00001
NM_000404.4(GLB1):c.699del (p.Gln234fs) rs1452318343 0.00001
NM_000424.4(KRT5):c.86G>A (p.Arg29His) rs543574061 0.00001
NM_000426.4(LAMA2):c.2584T>C (p.Cys862Arg) rs121913573 0.00001
NM_000426.4(LAMA2):c.2749+24C>A rs886038292 0.00001
NM_000426.4(LAMA2):c.2T>C (p.Met1Thr) rs374403765 0.00001
NM_000426.4(LAMA2):c.4348C>T (p.Arg1450Ter) rs200923373 0.00001
NM_000426.4(LAMA2):c.488A>T (p.Tyr163Phe) rs201175472 0.00001
NM_000435.3(NOTCH3):c.3062A>G (p.Tyr1021Cys) rs1167405466 0.00001
NM_000435.3(NOTCH3):c.900C>T (p.Cys300=) rs749319462 0.00001
NM_000436.4(OXCT1):c.1402C>T (p.Arg468Cys) rs1327401976 0.00001
NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val) rs786204474 0.00001
NM_000441.2(SLC26A4):c.1694G>A (p.Cys565Tyr) rs111033257 0.00001
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val) rs111033242 0.00001
NM_000443.4(ABCB4):c.2165G>C (p.Gly722Ala) rs779885518 0.00001
NM_000443.4(ABCB4):c.2860G>A (p.Gly954Ser) rs779829759 0.00001
NM_000444.6(PHEX):c.*231A>G rs946863800 0.00001
NM_000448.3(RAG1):c.2326C>T (p.Arg776Trp) rs121918572 0.00001
NM_000455.5(STK11):c.817G>A (p.Ala273Thr) rs587782199 0.00001
NM_000478.6(ALPL):c.1082A>G (p.Gln361Arg) rs1296355520 0.00001
NM_000478.6(ALPL):c.550C>T (p.Arg184Trp) rs763159520 0.00001
NM_000487.6(ARSA):c.1115G>A (p.Arg372Gln) rs74315477 0.00001
NM_000487.6(ARSA):c.1174C>T (p.Arg392Trp) rs74315480 0.00001
NM_000487.6(ARSA):c.244C>T (p.Arg82Trp) rs1313802305 0.00001
NM_000487.6(ARSA):c.737G>A (p.Arg246His) rs199476366 0.00001
NM_000487.6(ARSA):c.827C>T (p.Thr276Met) rs74315472 0.00001
NM_000487.6(ARSA):c.862A>C (p.Thr288Pro) rs28940894 0.00001
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser) rs74315459 0.00001
NM_000492.4(CFTR):c.1826A>G (p.His609Arg) rs397508310 0.00001
NM_000492.4(CFTR):c.2417A>G (p.Asp806Gly) rs397508375 0.00001
NM_000492.4(CFTR):c.3700A>G (p.Ile1234Val) rs75389940 0.00001
NM_000492.4(CFTR):c.3731G>A (p.Gly1244Glu) rs267606723 0.00001
NM_000492.4(CFTR):c.4364C>G (p.Ser1455Ter) rs121909043 0.00001
NM_000497.4(CYP11B1):c.595+1G>A rs1264073726 0.00001
NM_000512.5(GALNS):c.139G>A (p.Gly47Arg) rs199638097 0.00001
NM_000512.5(GALNS):c.1483A>T (p.Asn495Tyr) rs1404888504 0.00001
NM_000512.5(GALNS):c.235T>C (p.Cys79Arg) rs1478665723 0.00001
NM_000512.5(GALNS):c.280C>T (p.Arg94Cys) rs118204441 0.00001
NM_000512.5(GALNS):c.463G>A (p.Gly155Arg) rs398123438 0.00001
NM_000512.5(GALNS):c.502G>A (p.Gly168Arg) rs775732598 0.00001
NM_000512.5(GALNS):c.751C>T (p.Arg251Ter) rs1275386976 0.00001
NM_000518.4(HBB):c.157G>A (p.Asp53Asn) rs33961886 0.00001
NM_000518.5(HBB):c.122G>A (p.Arg41Lys) rs34831026 0.00001
NM_000518.5(HBB):c.286A>G (p.Lys96Glu) rs33914359 0.00001
NM_000520.6(HEXA):c.1177C>T (p.Arg393Ter) rs121907963 0.00001
NM_000520.6(HEXA):c.1422G>C (p.Trp474Cys) rs121907981 0.00001
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp) rs121907972 0.00001
NM_000521.4(HEXB):c.1514G>A (p.Arg505Gln) rs121907983 0.00001
NM_000521.4(HEXB):c.558+5G>A rs892920643 0.00001
NM_000521.4(HEXB):c.771+985G>A rs1210377071 0.00001
NM_000525.4(KCNJ11):c.407G>A (p.Arg136His) rs1479483693 0.00001
NM_000527.4(LDLR):c.313+1G>A rs112029328 0.00001
NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr) rs193922566 0.00001
NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr) rs768430352 0.00001
NM_000527.5(LDLR):c.1135T>C (p.Cys379Arg) rs879254803 0.00001
NM_000527.5(LDLR):c.1195G>A (p.Ala399Thr) rs730882099 0.00001
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp) rs121908043 0.00001
NM_000527.5(LDLR):c.1217G>A (p.Arg406Gln) rs552422789 0.00001
NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp) rs570942190 0.00001
NM_000527.5(LDLR):c.1285G>A (p.Val429Met) rs28942078 0.00001
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr) rs28942079 0.00001
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter) rs267607213 0.00001
NM_000527.5(LDLR):c.1329G>C (p.Trp443Cys) rs879254867 0.00001
NM_000527.5(LDLR):c.1359-1G>A rs139617694 0.00001
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr) rs730882102 0.00001
NM_000527.5(LDLR):c.1502C>T (p.Ala501Val) rs755667663 0.00001
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr) rs769370816 0.00001
NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser) rs758194385 0.00001
NM_000527.5(LDLR):c.1822C>T (p.Pro608Ser) rs879255034 0.00001
NM_000527.5(LDLR):c.1898G>A (p.Arg633His) rs754536745 0.00001
NM_000527.5(LDLR):c.190+4A>T rs769446356 0.00001
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter) rs121908031 0.00001
NM_000527.5(LDLR):c.2113G>C (p.Ala705Pro) rs193922570 0.00001
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys) rs730882078 0.00001
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly) rs121908025 0.00001
NM_000527.5(LDLR):c.299A>T (p.Asp100Val) rs879254460 0.00001
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys) rs144172724 0.00001
NM_000527.5(LDLR):c.313+2T>C rs793888517 0.00001
NM_000527.5(LDLR):c.314-2A>C rs879254470 0.00001
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys) rs769383881 0.00001
NM_000527.5(LDLR):c.418G>A (p.Glu140Lys) rs748944640 0.00001
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn) rs200727689 0.00001
NM_000527.5(LDLR):c.631C>T (p.His211Tyr) rs771917370 0.00001
NM_000527.5(LDLR):c.661G>A (p.Asp221Asn) rs875989906 0.00001
NM_000527.5(LDLR):c.664T>C (p.Cys222Arg) rs577934998 0.00001
NM_000527.5(LDLR):c.680_681del (p.Asp227fs) rs387906305 0.00001
NM_000527.5(LDLR):c.693C>A (p.Cys231Ter) rs121908035 0.00001
NM_000527.5(LDLR):c.761A>C (p.Gln254Pro) rs879254667 0.00001
NM_000527.5(LDLR):c.796G>A (p.Asp266Asn) rs875989907 0.00001
NM_000527.5(LDLR):c.820del (p.Thr274fs) rs751122998 0.00001
NM_000527.5(LDLR):c.912C>G (p.Asp304Glu) rs875989909 0.00001
NM_000527.5(LDLR):c.917C>T (p.Ser306Leu) rs11547917 0.00001
NM_000528.4(MAN2B1):c.2920dup (p.Thr974fs) rs774791244 0.00001
NM_000531.6(OTC):c.171A>G (p.Leu57=) rs924740805 0.00001
NM_000531.6(OTC):c.286T>C (p.Ser96Pro) rs184053962 0.00001
NM_000531.6(OTC):c.656C>A (p.Thr219Asn) rs756096405 0.00001
NM_000532.5(PCCB):c.942C>A (p.Tyr314Ter) rs572246667 0.00001
NM_000535.7(PMS2):c.1144+1G>A rs373885654 0.00001
NM_000535.7(PMS2):c.241G>A (p.Glu81Lys) rs730881919 0.00001
NM_000540.3(RYR1):c.10154C>T (p.Ala3385Val) rs772566556 0.00001
NM_000540.3(RYR1):c.10768G>A (p.Glu3590Lys) rs746611627 0.00001
NM_000540.3(RYR1):c.10937+1G>C rs775682151 0.00001
NM_000540.3(RYR1):c.11193+2T>C rs1971785665 0.00001
NM_000540.3(RYR1):c.11194-3C>T rs758196929 0.00001
NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln) rs193922839 0.00001
NM_000540.3(RYR1):c.122T>C (p.Phe41Ser) rs766407858 0.00001
NM_000540.3(RYR1):c.13525_13531dup (p.Lys4511fs) rs928989953 0.00001
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130 0.00001
NM_000540.3(RYR1):c.14129+1G>A rs142929172 0.00001
NM_000540.3(RYR1):c.14210G>A (p.Arg4737Gln) rs193922868 0.00001
NM_000540.3(RYR1):c.14307C>T (p.Leu4769=) rs1177353484 0.00001
NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile) rs118192168 0.00001
NM_000540.3(RYR1):c.14600G>A (p.Ser4867Asn) rs587784373 0.00001
NM_000540.3(RYR1):c.14645C>T (p.Thr4882Met) rs193922884 0.00001
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr) rs118192158 0.00001
NM_000540.3(RYR1):c.14939C>T (p.Thr4980Met) rs398123471 0.00001
NM_000540.3(RYR1):c.1588C>T (p.Arg530Cys) rs757399861 0.00001
NM_000540.3(RYR1):c.1597C>T (p.Arg533Cys) rs193922768 0.00001
NM_000540.3(RYR1):c.1983G>A (p.Trp661Ter) rs1305971341 0.00001
NM_000540.3(RYR1):c.2361-4C>G rs753918895 0.00001
NM_000540.3(RYR1):c.2897C>T (p.Pro966Leu) rs143179371 0.00001
NM_000540.3(RYR1):c.4777C>T (p.Arg1593Trp) rs1229854214 0.00001
NM_000540.3(RYR1):c.488G>A (p.Arg163His) rs193922753 0.00001
NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe) rs193922781 0.00001
NM_000540.3(RYR1):c.526G>A (p.Glu176Lys) rs761616815 0.00001
NM_000540.3(RYR1):c.5314A>G (p.Arg1772Gly) rs1568484835 0.00001
NM_000540.3(RYR1):c.5548-3T>C rs370111319 0.00001
NM_000540.3(RYR1):c.5955C>T (p.Ser1985=) rs1969490927 0.00001
NM_000540.3(RYR1):c.6027A>G (p.Leu2009=) rs2145564113 0.00001
NM_000540.3(RYR1):c.631+1G>T rs374937694 0.00001
NM_000540.3(RYR1):c.643G>A (p.Gly215Arg) rs1393197844 0.00001
NM_000540.3(RYR1):c.6584C>T (p.Pro2195Leu) rs772003357 0.00001
NM_000540.3(RYR1):c.6701G>A (p.Arg2234His) rs1251260760 0.00001
NM_000540.3(RYR1):c.6797-1G>A rs1221087983 0.00001
NM_000540.3(RYR1):c.7007G>A (p.Arg2336His) rs112563513 0.00001
NM_000540.3(RYR1):c.7043A>G (p.Glu2348Gly) rs193922801 0.00001
NM_000540.3(RYR1):c.7199A>G (p.Asp2400Gly) rs976108591 0.00001
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys) rs118192174 0.00001
NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr) rs193922809 0.00001
NM_000540.3(RYR1):c.7360C>T (p.Arg2454Cys) rs193922816 0.00001
NM_000540.3(RYR1):c.7361G>A (p.Arg2454His) rs118192122 0.00001
NM_000540.3(RYR1):c.7385C>T (p.Pro2462Leu) rs551223467 0.00001
NM_000540.3(RYR1):c.7858C>T (p.Gln2620Ter) rs1365856881 0.00001
NM_000540.3(RYR1):c.7896C>A (p.Ile2632=) rs201090618 0.00001
NM_000540.3(RYR1):c.8430G>A (p.Lys2810=) rs747388850 0.00001
NM_000540.3(RYR1):c.9157C>T (p.Arg3053Ter) rs1374378105 0.00001
NM_000540.3(RYR1):c.9472+1G>A rs776697656 0.00001
NM_000540.3(RYR1):c.9605C>T (p.Pro3202Leu) rs754002399 0.00001
NM_000540.3(RYR1):c.975C>T (p.Ala325=) rs751251863 0.00001
NM_000540.3(RYR1):c.983G>A (p.Arg328Gln) rs755875230 0.00001
NM_000540.3(RYR1):c.9847C>T (p.Arg3283Ter) rs752199191 0.00001
NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln) rs763566905 0.00001
NM_000543.5(SMPD1):c.1529C>T (p.Ser510Phe) rs200652683 0.00001
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) rs121912666 0.00001
NM_000546.6(TP53):c.817C>T (p.Arg273Cys) rs121913343 0.00001
NM_000548.5(TSC2):c.1373G>A (p.Arg458Gln) rs878854077 0.00001
NM_000548.5(TSC2):c.1562C>G (p.Thr521Arg) rs1378972928 0.00001
NM_000548.5(TSC2):c.1754G>A (p.Arg585His) rs397515063 0.00001
NM_000548.5(TSC2):c.1931G>A (p.Cys644Tyr) rs758301934 0.00001
NM_000548.5(TSC2):c.1945A>G (p.Met649Val) rs762331610 0.00001
NM_000548.5(TSC2):c.2237C>T (p.Thr746Ile) rs767770242 0.00001
NM_000548.5(TSC2):c.2553C>T (p.Ala851=) rs745687916 0.00001
NM_000548.5(TSC2):c.4766C>T (p.Pro1589Leu) rs373635516 0.00001
NM_000548.5(TSC2):c.5288C>T (p.Pro1763Leu) rs781139561 0.00001
NM_000548.5(TSC2):c.5305C>T (p.His1769Tyr) rs1555441265 0.00001
NM_000548.5(TSC2):c.646G>A (p.Glu216Lys) rs45517118 0.00001
NM_000550.3(TYRP1):c.721G>T (p.Glu241Ter) rs1176553821 0.00001
NM_000553.6(WRN):c.3724C>T (p.Gln1242Ter) rs762379051 0.00001
NM_000554.6(CRX):c.121C>T (p.Arg41Trp) rs104894672 0.00001
NM_000554.6(CRX):c.122G>A (p.Arg41Gln) rs61748436 0.00001
NM_000562.3(C8A):c.630C>A (p.Tyr210Ter) rs748306602 0.00001
NM_000642.3(AGL):c.100C>T (p.Arg34Ter) rs781580050 0.00001
NM_000642.3(AGL):c.1078C>T (p.His360Tyr) rs763554006 0.00001
NM_000642.3(AGL):c.1758T>C (p.Ser586=) rs1402386421 0.00001
NM_000642.3(AGL):c.2929C>T (p.Arg977Ter) rs531425980 0.00001
NM_000709.4(BCKDHA):c.647-1G>C rs753216964 0.00001
NM_000709.4(BCKDHA):c.647C>T (p.Ala216Val) rs369448982 0.00001
NM_000709.4(BCKDHA):c.793C>T (p.Arg265Trp) rs137852873 0.00001
NM_000719.7(CACNA1C):c.169G>A (p.Asp57Asn) rs773528195 0.00001
NM_000751.3(CHRND):c.1006C>T (p.Arg336Ter) rs754087173 0.00001
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln) rs121908099 0.00001
NM_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala) rs200883871 0.00001
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp) rs121908098 0.00001
NM_000834.5(GRIN2B):c.4049C>T (p.Ala1350Val) rs763372245 0.00001
NM_000891.3(KCNJ2):c.845T>G (p.Leu282Trp) rs758092571 0.00001
NM_001005373.4(LRSAM1):c.1279C>T (p.Arg427Ter) rs138226428 0.00001
NM_001005373.4(LRSAM1):c.284C>T (p.Ala95Val) rs570248730 0.00001
NM_001017995.3(SH3PXD2B):c.127C>T (p.Arg43Trp) rs267607046 0.00001
NM_001018115.3(FANCD2):c.1279G>T (p.Val427Phe) rs529893298 0.00001
NM_001018115.3(FANCD2):c.3299_3300del (p.Gln1100fs) rs770686014 0.00001
NM_001018115.3(FANCD2):c.491+1G>A rs943009372 0.00001
NM_001024845.3(SLC6A9):c.737C>T (p.Thr246Met) rs1043442244 0.00001
NM_001032386.2(SUOX):c.1097G>A (p.Arg366His) rs776690106 0.00001
NM_001032386.2(SUOX):c.796G>A (p.Gly266Ser) rs144064367 0.00001
NM_001037.5(SCN1B):c.266G>A (p.Arg89His) rs138381632 0.00001
NM_001037.5(SCN1B):c.373C>T (p.Arg125Cys) rs1135401736 0.00001
NM_001039591.3(USP9X):c.90G>C (p.Gln30His) rs754357906 0.00001
NM_001040142.2(SCN2A):c.3598A>G (p.Thr1200Ala) rs765909421 0.00001
NM_001042432.2(CLN3):c.622dup (p.Ser208fs) rs386833736 0.00001
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) rs137854556 0.00001
NM_001042492.3(NF1):c.7213A>G (p.Ile2405Val) rs565708398 0.00001
NM_001044.5(SLC6A3):c.1561C>T (p.Arg521Trp) rs431905516 0.00001
NM_001048174.2(MUTYH):c.1102+1G>A rs587781337 0.00001
NM_001048174.2(MUTYH):c.1103-2A>G rs587781628 0.00001
NM_001048174.2(MUTYH):c.1156C>T (p.Gln386Ter) rs766420907 0.00001
NM_001048174.2(MUTYH):c.225G>A (p.Trp75Ter) rs748170941 0.00001
NM_001048174.2(MUTYH):c.386C>T (p.Pro129Leu) rs777184451 0.00001
NM_001048174.2(MUTYH):c.559G>A (p.Val187Met) rs776487884 0.00001
NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp) rs34126013 0.00001
NM_001048174.2(MUTYH):c.736C>T (p.Arg246Trp) rs769237459 0.00001
NM_001048174.2(MUTYH):c.773G>A (p.Gly258Glu) rs730881833 0.00001
NM_001077350.3(NPRL3):c.1162-2A>G rs756257487 0.00001
NM_001077365.2(POMT1):c.1176-2A>G rs746523421 0.00001
NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro) rs119462982 0.00001
NM_001077365.2(POMT1):c.697_699del (p.Asn233del) rs761863400 0.00001
NM_001079802.2(FKTN):c.706A>G (p.Met236Val) rs886042241 0.00001
NM_001079802.2(FKTN):c.820C>T (p.Arg274Trp) rs558187116 0.00001
NM_001079802.2(FKTN):c.920G>A (p.Arg307Gln) rs119463992 0.00001
NM_001079866.2(BCS1L):c.134G>A (p.Arg45His) rs754414354 0.00001
NM_001079866.2(BCS1L):c.355C>T (p.Arg119Ter) rs770749420 0.00001
NM_001079866.2(BCS1L):c.903C>A (p.Tyr301Ter) rs1939635954 0.00001
NM_001079866.2(BCS1L):c.917G>A (p.Arg306His) rs1280810181 0.00001
NM_001083116.3(PRF1):c.1304C>T (p.Thr435Met) rs28933376 0.00001
NM_001083116.3(PRF1):c.1349C>T (p.Thr450Met) rs189650890 0.00001
NM_001083116.3(PRF1):c.1442A>C (p.Gln481Pro) rs764596094 0.00001
NM_001098.3(ACO2):c.1132C>T (p.Arg378Ter) rs2066512609 0.00001
NM_001099274.3(TINF2):c.793C>T (p.Arg265Ter) rs200320654 0.00001
NM_001101426.4(CRPPA):c.395A>G (p.Asn132Ser) rs774324906 0.00001
NM_001101426.4(CRPPA):c.571G>A (p.Val191Ile) rs757165158 0.00001
NM_001103.4(ACTN2):c.616-3C>T rs111464645 0.00001
NM_001110556.2(FLNA):c.1124A>G (p.Asp375Gly) rs782331362 0.00001
NM_001110556.2(FLNA):c.7172G>A (p.Arg2391His) rs727503930 0.00001
NM_001110792.2(MECP2):c.785G>A (p.Arg262His) rs61750227 0.00001
NM_001110792.2(MECP2):c.860T>C (p.Val287Ala) rs143989769 0.00001
NM_001111125.3(IQSEC2):c.3523C>T (p.Arg1175Cys) rs1300877733 0.00001
NM_001126108.2(SLC12A3):c.1175C>T (p.Thr392Ile) rs748575829 0.00001
NM_001126108.2(SLC12A3):c.1919A>G (p.Asn640Ser) rs886039754 0.00001
NM_001126108.2(SLC12A3):c.1926-1G>T rs755560627 0.00001
NM_001126108.2(SLC12A3):c.1963C>T (p.Arg655Cys) rs747249619 0.00001
NM_001126108.2(SLC12A3):c.2089_2095del (p.Thr697fs) rs771701344 0.00001
NM_001126108.2(SLC12A3):c.2515G>A (p.Asp839Asn) rs1298687889 0.00001
NM_001127222.2(CACNA1A):c.1594G>A (p.Glu532Lys) rs1064794263 0.00001
NM_001127222.2(CACNA1A):c.2255C>A (p.Ser752Tyr) rs535900273 0.00001
NM_001127222.2(CACNA1A):c.3233C>T (p.Ser1078Leu) rs748935741 0.00001
NM_001127222.2(CACNA1A):c.5032C>T (p.Arg1678Cys) rs121908243 0.00001
NM_001127222.2(CACNA1A):c.6769G>A (p.Ala2257Thr) rs1057523197 0.00001
NM_001128126.3(AP4S1):c.294+1G>T rs886041127 0.00001
NM_001128227.3(GNE):c.79C>T (p.Arg27Ter) rs794727279 0.00001
NM_001128840.3(CACNA1D):c.5813C>T (p.Pro1938Leu) rs770886605 0.00001
NM_001130144.3(LTBP3):c.3364C>T (p.Gln1122Ter) rs878853036 0.00001
NM_001130438.3(SPTAN1):c.5880C>T (p.Asn1960=) rs372782253 0.00001
NM_001130682.3(GUCY1A1):c.1086+1G>T rs587777320 0.00001
NM_001130987.2(DYSF):c.1149+5G>A rs1023002894 0.00001
NM_001130987.2(DYSF):c.1225C>T (p.Arg409Ter) rs758180890 0.00001
NM_001130987.2(DYSF):c.1276+5G>A rs766433603 0.00001
NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg) rs201049092 0.00001
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln) rs150877497 0.00001
NM_001130987.2(DYSF):c.3172C>T (p.Arg1058Trp) rs1553556116 0.00001
NM_001130987.2(DYSF):c.4057G>A (p.Glu1353Lys) rs758993965 0.00001
NM_001130987.2(DYSF):c.5060A>G (p.Tyr1687Cys) rs1553412643 0.00001
NM_001130987.2(DYSF):c.5413G>A (p.Glu1805Lys) rs771402331 0.00001
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp) rs746243052 0.00001
NM_001130987.2(DYSF):c.851C>T (p.Thr284Met) rs398123802 0.00001
NM_001134407.3(GRIN2A):c.2811T>A (p.Asp937Glu) rs570907044 0.00001
NM_001134407.3(GRIN2A):c.3017C>T (p.Ala1006Val) rs200526162 0.00001
NM_001134407.3(GRIN2A):c.3427G>A (p.Glu1143Lys) rs61758996 0.00001
NM_001134407.3(GRIN2A):c.583T>C (p.Phe195Leu) rs1445598953 0.00001
NM_001134407.3(GRIN2A):c.943G>A (p.Glu315Lys) rs765104792 0.00001
NM_001139.3(ALOX12B):c.1294C>T (p.Arg432Ter) rs397514527 0.00001
NM_001142784.3(IL11RA):c.662C>G (p.Pro221Arg) rs387906785 0.00001
NM_001142800.2(EYS):c.4651G>T (p.Glu1551Ter) rs1305702728 0.00001
NM_001142800.2(EYS):c.6192-1G>T rs570020451 0.00001
NM_001142800.2(EYS):c.6528C>A (p.Tyr2176Ter) rs797045089 0.00001
NM_001142800.2(EYS):c.8236G>T (p.Asp2746Tyr) rs1349879153 0.00001
NM_001142864.4(PIEZO1):c.1163T>C (p.Leu388Pro) rs771886999 0.00001
NM_001142864.4(PIEZO1):c.1375C>T (p.Arg459Cys) rs752473164 0.00001
NM_001142864.4(PIEZO1):c.1718A>G (p.Lys573Arg) rs1052196774 0.00001
NM_001142864.4(PIEZO1):c.2207T>C (p.Leu736Pro) rs999049540 0.00001
NM_001142864.4(PIEZO1):c.2390A>G (p.Asp797Gly) rs1362985118 0.00001
NM_001142864.4(PIEZO1):c.2552G>A (p.Arg851Gln) rs746901224 0.00001
NM_001142864.4(PIEZO1):c.4685G>A (p.Arg1562Lys) rs984713605 0.00001
NM_001142864.4(PIEZO1):c.538C>G (p.Arg180Gly) rs897963232 0.00001
NM_001142864.4(PIEZO1):c.5557G>A (p.Gly1853Arg) rs367636785 0.00001
NM_001142864.4(PIEZO1):c.6412T>G (p.Cys2138Gly) rs1405745916 0.00001
NM_001142864.4(PIEZO1):c.6652G>A (p.Gly2218Ser) rs1236011780 0.00001
NM_001142864.4(PIEZO1):c.6800C>T (p.Thr2267Met) rs868467734 0.00001
NM_001142864.4(PIEZO1):c.7093G>A (p.Gly2365Arg) rs1292201259 0.00001
NM_001145809.2(MYH14):c.590+1G>A rs371338704 0.00001
NM_001164508.2(NEB):c.11165G>A (p.Arg3722Gln) rs757027644 0.00001
NM_001164508.2(NEB):c.1258A>G (p.Lys420Glu) rs200298261 0.00001
NM_001164508.2(NEB):c.22489C>T (p.Arg7497Ter) rs760935667 0.00001
NM_001164508.2(NEB):c.22831C>T (p.Arg7611Ter) rs555582398 0.00001
NM_001164508.2(NEB):c.24527C>T (p.Pro8176Leu) rs751680308 0.00001
NM_001164508.2(NEB):c.25183C>T (p.Arg8395Ter) rs747179265 0.00001
NM_001164508.2(NEB):c.2784del (p.Asp929fs) rs786204430 0.00001
NM_001164508.2(NEB):c.294+2T>C rs773952935 0.00001
NM_001164508.2(NEB):c.7209T>A (p.Val2403=) rs778083630 0.00001
NM_001165963.4(SCN1A):c.1910C>T (p.Ala637Val) rs1266240114 0.00001
NM_001165963.4(SCN1A):c.3176A>T (p.Asp1059Val) rs779306054 0.00001
NM_001165963.4(SCN1A):c.4787G>A (p.Arg1596His) rs575368466 0.00001
NM_001165963.4(SCN1A):c.4848T>C (p.Ile1616=) rs1379533666 0.00001
NM_001165963.4(SCN1A):c.5008T>C (p.Leu1670=) rs1689333436 0.00001
NM_001165963.4(SCN1A):c.5865A>G (p.Ile1955Met) rs796052952 0.00001
NM_001165963.4(SCN1A):c.5963G>A (p.Arg1988Gln) rs769477807 0.00001
NM_001165963.4(SCN1A):c.5977A>G (p.Ile1993Val) rs751750112 0.00001
NM_001165963.4(SCN1A):c.672G>C (p.Leu224Phe) rs1170665581 0.00001
NM_001171.6(ABCC6):c.1355C>A (p.Ala452Asp) rs1179736830 0.00001
NM_001171.6(ABCC6):c.3506+1G>A rs1359856569 0.00001
NM_001171613.2(PREPL):c.-49+1734C>T rs374594354 0.00001
NM_001172509.2(SATB2):c.1397C>T (p.Ser466Leu) rs780366664 0.00001
NM_001172509.2(SATB2):c.1704G>A (p.Met568Ile) rs1042085577 0.00001
NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys) rs779526456 0.00001
NM_001174089.2(SLC4A11):c.1418C>T (p.Ser473Leu) rs121909388 0.00001
NM_001182.5(ALDH7A1):c.1556G>A (p.Arg519Lys) rs561343926 0.00001
NM_001182.5(ALDH7A1):c.530C>A (p.Ala177Glu) rs764417585 0.00001
NM_001182.5(ALDH7A1):c.921A>G (p.Glu307=) rs1750312383 0.00001
NM_001184880.2(PCDH19):c.2694C>T (p.Asp898=) rs754570811 0.00001
NM_001184880.2(PCDH19):c.695A>G (p.Asn232Ser) rs587784299 0.00001
NM_001194998.2(CEP152):c.2895A>G (p.Gln965=) rs1382711328 0.00001
NM_001206744.2(TPO):c.1943G>A (p.Arg648Gln) rs121908086 0.00001
NM_001206744.2(TPO):c.2578G>A (p.Gly860Arg) rs556552435 0.00001
NM_001242896.3(DEPDC5):c.3515C>A (p.Thr1172Asn) rs865860087 0.00001
NM_001243279.3(ACSF3):c.1310G>A (p.Trp437Ter) rs1243213118 0.00001
NM_001243279.3(ACSF3):c.666+1G>A rs1336382616 0.00001
NM_001252024.2(TRPM1):c.279+147T>G rs150441866 0.00001
NM_001258392.3(CLPB):c.1503T>G (p.Ser501Arg) rs571871217 0.00001
NM_001258392.3(CLPB):c.934C>T (p.Arg312Ter) rs185461628 0.00001
NM_001267550.2(TTN):c.100886G>A (p.Trp33629Ter) rs1260821931 0.00001
NM_001267550.2(TTN):c.101504G>A (p.Arg33835His) rs373854384 0.00001
NM_001267550.2(TTN):c.101728G>A (p.Glu33910Lys) rs943777958 0.00001
NM_001267550.2(TTN):c.102025T>C (p.Leu34009=) rs794727543 0.00001
NM_001267550.2(TTN):c.102164T>C (p.Val34055Ala) rs752582515 0.00001
NM_001267550.2(TTN):c.102562G>A (p.Glu34188Lys) rs577667352 0.00001
NM_001267550.2(TTN):c.10288A>C (p.Asn3430His) rs376029089 0.00001
NM_001267550.2(TTN):c.10303+2T>C rs371596417 0.00001
NM_001267550.2(TTN):c.103576G>C (p.Glu34526Gln) rs770742837 0.00001
NM_001267550.2(TTN):c.103609C>T (p.Arg34537Trp) rs753957126 0.00001
NM_001267550.2(TTN):c.103787G>A (p.Arg34596His) rs762235688 0.00001
NM_001267550.2(TTN):c.104250T>C (p.His34750=) rs745463889 0.00001
NM_001267550.2(TTN):c.104399del (p.Arg34800fs) rs747662439 0.00001
NM_001267550.2(TTN):c.104413C>T (p.Arg34805Ter) rs750519430 0.00001
NM_001267550.2(TTN):c.104796T>G (p.Ser34932Arg) rs794729566 0.00001
NM_001267550.2(TTN):c.105038G>A (p.Arg35013His) rs779484675 0.00001
NM_001267550.2(TTN):c.105049A>G (p.Thr35017Ala) rs368779151 0.00001
NM_001267550.2(TTN):c.105360C>T (p.Thr35120=) rs904049980 0.00001
NM_001267550.2(TTN):c.105491G>A (p.Arg35164His) rs768358201 0.00001
NM_001267550.2(TTN):c.105737C>G (p.Ala35246Gly) rs370476812 0.00001
NM_001267550.2(TTN):c.105754C>T (p.Arg35252Ter) rs886043924 0.00001
NM_001267550.2(TTN):c.106343G>A (p.Arg35448Gln) rs369703073 0.00001
NM_001267550.2(TTN):c.107301C>T (p.Ser35767=) rs1558965303 0.00001
NM_001267550.2(TTN):c.107393C>T (p.Pro35798Leu) rs886038722 0.00001
NM_001267550.2(TTN):c.107410T>C (p.Leu35804=) rs1445566495 0.00001
NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter) rs757082154 0.00001
NM_001267550.2(TTN):c.1099T>C (p.Ser367Pro) rs376015894 0.00001
NM_001267550.2(TTN):c.1201A>G (p.Ser401Gly) rs750083694 0.00001
NM_001267550.2(TTN):c.14950G>A (p.Val4984Met) rs903648091 0.00001
NM_001267550.2(TTN):c.15388G>A (p.Val5130Met) rs765530283 0.00001
NM_001267550.2(TTN):c.1584C>T (p.Ser528=) rs267599093 0.00001
NM_001267550.2(TTN):c.16288C>T (p.Arg5430Ter) rs772235481 0.00001
NM_001267550.2(TTN):c.16751T>A (p.Ile5584Asn) rs779652311 0.00001
NM_001267550.2(TTN):c.17227C>T (p.Arg5743Trp) rs377193479 0.00001
NM_001267550.2(TTN):c.17500G>A (p.Val5834Ile) rs727505221 0.00001
NM_001267550.2(TTN):c.18071A>G (p.Asn6024Ser) rs759852969 0.00001
NM_001267550.2(TTN):c.18586A>G (p.Lys6196Glu) rs756791385 0.00001
NM_001267550.2(TTN):c.19264G>A (p.Gly6422Arg) rs774524508 0.00001
NM_001267550.2(TTN):c.19949A>G (p.Asn6650Ser) rs751222632 0.00001
NM_001267550.2(TTN):c.20169C>T (p.Ala6723=) rs727504776 0.00001
NM_001267550.2(TTN):c.20395C>T (p.Arg6799Trp) rs751534449 0.00001
NM_001267550.2(TTN):c.20633A>C (p.Glu6878Ala) rs752107739 0.00001
NM_001267550.2(TTN):c.21947T>G (p.Leu7316Arg) rs745745237 0.00001
NM_001267550.2(TTN):c.2227G>A (p.Ala743Thr) rs370728359 0.00001
NM_001267550.2(TTN):c.22417G>A (p.Val7473Met) rs775242103 0.00001
NM_001267550.2(TTN):c.22511C>T (p.Ala7504Val) rs2529481421 0.00001
NM_001267550.2(TTN):c.23392G>A (p.Val7798Met) rs144032104 0.00001
NM_001267550.2(TTN):c.24013G>C (p.Glu8005Gln) rs757042397 0.00001
NM_001267550.2(TTN):c.2426C>G (p.Pro809Arg) rs556497793 0.00001
NM_001267550.2(TTN):c.2535G>T (p.Glu845Asp) rs768608500 0.00001
NM_001267550.2(TTN):c.25633G>A (p.Val8545Ile) rs1246177699 0.00001
NM_001267550.2(TTN):c.25759G>A (p.Glu8587Lys) rs760340908 0.00001
NM_001267550.2(TTN):c.26116G>A (p.Asp8706Asn) rs377074955 0.00001
NM_001267550.2(TTN):c.26482+1G>C rs1440418037 0.00001
NM_001267550.2(TTN):c.26529G>A (p.Thr8843=) rs747558822 0.00001
NM_001267550.2(TTN):c.2707G>A (p.Gly903Arg) rs2092996974 0.00001
NM_001267550.2(TTN):c.27136C>T (p.Pro9046Ser) rs772800519 0.00001
NM_001267550.2(TTN):c.27427G>T (p.Val9143Phe) rs186857044 0.00001
NM_001267550.2(TTN):c.2761G>A (p.Gly921Arg) rs774924294 0.00001
NM_001267550.2(TTN):c.2766C>T (p.Arg922=) rs372617952 0.00001
NM_001267550.2(TTN):c.28151C>G (p.Ser9384Cys) rs760466007 0.00001
NM_001267550.2(TTN):c.29999T>C (p.Leu10000Pro) rs768379279 0.00001
NM_001267550.2(TTN):c.30022A>G (p.Met10008Val) rs1553877757 0.00001
NM_001267550.2(TTN):c.30055T>G (p.Ser10019Ala) rs754368714 0.00001
NM_001267550.2(TTN):c.3070G>A (p.Val1024Ile) rs368770038 0.00001
NM_001267550.2(TTN):c.31321G>A (p.Glu10441Lys) rs901197333 0.00001
NM_001267550.2(TTN):c.3169G>A (p.Val1057Ile) rs780035225 0.00001
NM_001267550.2(TTN):c.325C>T (p.Arg109Ter) rs150954246 0.00001
NM_001267550.2(TTN):c.33127C>T (p.Pro11043Ser) rs746514747 0.00001
NM_001267550.2(TTN):c.34412A>T (p.Lys11471Ile) rs912864418 0.00001
NM_001267550.2(TTN):c.34570C>T (p.Arg11524Ter) rs1441434215 0.00001
NM_001267550.2(TTN):c.34601T>C (p.Leu11534Pro) rs376836503 0.00001
NM_001267550.2(TTN):c.35380A>G (p.Thr11794Ala) rs751454643 0.00001
NM_001267550.2(TTN):c.40939A>G (p.Lys13647Glu) rs777187629 0.00001
NM_001267550.2(TTN):c.41402G>A (p.Ser13801Asn) rs757590541 0.00001
NM_001267550.2(TTN):c.41439G>A (p.Arg13813=) rs370755303 0.00001
NM_001267550.2(TTN):c.42056G>A (p.Arg14019His) rs374683153 0.00001
NM_001267550.2(TTN):c.42840T>G (p.Asp14280Glu) rs760643071 0.00001
NM_001267550.2(TTN):c.4292G>A (p.Arg1431Gln) rs373690688 0.00001
NM_001267550.2(TTN):c.43565A>G (p.His14522Arg) rs374085402 0.00001
NM_001267550.2(TTN):c.43604G>A (p.Arg14535His) rs764250397 0.00001
NM_001267550.2(TTN):c.44599G>A (p.Gly14867Arg) rs144848584 0.00001
NM_001267550.2(TTN):c.44667G>C (p.Gly14889=) rs746287950 0.00001
NM_001267550.2(TTN):c.44816-1G>A rs749705939 0.00001
NM_001267550.2(TTN):c.45586G>A (p.Ala15196Thr) rs372872095 0.00001
NM_001267550.2(TTN):c.45598G>A (p.Ala15200Thr) rs752318420 0.00001
NM_001267550.2(TTN):c.45673G>A (p.Val15225Ile) rs757519339 0.00001
NM_001267550.2(TTN):c.4639G>A (p.Val1547Met) rs750678272 0.00001
NM_001267550.2(TTN):c.47430T>C (p.Thr15810=) rs373878153 0.00001
NM_001267550.2(TTN):c.47481G>A (p.Gln15827=) rs752514306 0.00001
NM_001267550.2(TTN):c.47892T>G (p.Asp15964Glu) rs727503623 0.00001
NM_001267550.2(TTN):c.48143T>C (p.Ile16048Thr) rs749678590 0.00001
NM_001267550.2(TTN):c.4981A>G (p.Ile1661Val) rs749438439 0.00001
NM_001267550.2(TTN):c.50148T>A (p.Thr16716=) rs374138859 0.00001
NM_001267550.2(TTN):c.50400A>T (p.Lys16800Asn) rs794729239 0.00001
NM_001267550.2(TTN):c.51055C>T (p.Arg17019Cys) rs773394284 0.00001
NM_001267550.2(TTN):c.51436+1G>A rs761807131 0.00001
NM_001267550.2(TTN):c.51527G>C (p.Gly17176Ala) rs768961892 0.00001
NM_001267550.2(TTN):c.52144A>G (p.Arg17382Gly) rs397517607 0.00001
NM_001267550.2(TTN):c.52243G>A (p.Asp17415Asn) rs397517609 0.00001
NM_001267550.2(TTN):c.52313G>A (p.Gly17438Glu) rs1356720044 0.00001
NM_001267550.2(TTN):c.5308A>G (p.Arg1770Gly) rs780733773 0.00001
NM_001267550.2(TTN):c.53717A>G (p.Lys17906Arg) rs727503606 0.00001
NM_001267550.2(TTN):c.54031A>G (p.Thr18011Ala) rs766446275 0.00001
NM_001267550.2(TTN):c.54471A>T (p.Lys18157Asn) rs779495049 0.00001
NM_001267550.2(TTN):c.55010C>T (p.Pro18337Leu) rs764568599 0.00001
NM_001267550.2(TTN):c.56648-1G>A rs769912484 0.00001
NM_001267550.2(TTN):c.56747T>A (p.Val18916Glu) rs1296926879 0.00001
NM_001267550.2(TTN):c.56948C>T (p.Ala18983Val) rs774502532 0.00001
NM_001267550.2(TTN):c.58022G>A (p.Ser19341Asn) rs536645864 0.00001
NM_001267550.2(TTN):c.58191G>A (p.Thr19397=) rs370091658 0.00001
NM_001267550.2(TTN):c.59074A>G (p.Thr19692Ala) rs771977738 0.00001
NM_001267550.2(TTN):c.59875C>T (p.Arg19959Cys) rs564432498 0.00001
NM_001267550.2(TTN):c.60419A>G (p.Asn20140Ser) rs1187229401 0.00001
NM_001267550.2(TTN):c.61355T>A (p.Ile20452Asn) rs375946418 0.00001
NM_001267550.2(TTN):c.61366G>A (p.Gly20456Ser) rs756873840 0.00001
NM_001267550.2(TTN):c.62825A>G (p.Asn20942Ser) rs769163040 0.00001
NM_001267550.2(TTN):c.63834C>T (p.Val21278=) rs911870330 0.00001
NM_001267550.2(TTN):c.64253A>C (p.Tyr21418Ser) rs573165930 0.00001
NM_001267550.2(TTN):c.64642G>T (p.Asp21548Tyr) rs749070255 0.00001
NM_001267550.2(TTN):c.64968A>G (p.Pro21656=) rs376921740 0.00001
NM_001267550.2(TTN):c.65629G>T (p.Ala21877Ser) rs72646866 0.00001
NM_001267550.2(TTN):c.65794G>A (p.Gly21932Arg) rs373636513 0.00001
NM_001267550.2(TTN):c.66283C>T (p.Arg22095Trp) rs571093313 0.00001
NM_001267550.2(TTN):c.66794C>T (p.Ala22265Val) rs750836266 0.00001
NM_001267550.2(TTN):c.67280G>A (p.Arg22427Gln) rs770566210 0.00001
NM_001267550.2(TTN):c.67451T>C (p.Ile22484Thr) rs903308296 0.00001
NM_001267550.2(TTN):c.68195C>T (p.Ser22732Leu) rs727505352 0.00001
NM_001267550.2(TTN):c.69458A>C (p.Lys23153Thr) rs879119970 0.00001
NM_001267550.2(TTN):c.69508G>A (p.Glu23170Lys) rs1334543067 0.00001
NM_001267550.2(TTN):c.69815T>G (p.Ile23272Ser) rs758398301 0.00001
NM_001267550.2(TTN):c.70562C>G (p.Thr23521Arg) rs775589244 0.00001
NM_001267550.2(TTN):c.71368C>T (p.Arg23790Cys) rs775743818 0.00001
NM_001267550.2(TTN):c.71537G>A (p.Ser23846Asn) rs760506346 0.00001
NM_001267550.2(TTN):c.71667T>C (p.Ser23889=) rs756824434 0.00001
NM_001267550.2(TTN):c.7223A>G (p.Gln2408Arg) rs777244038 0.00001
NM_001267550.2(TTN):c.74144C>T (p.Pro24715Leu) rs55713856 0.00001
NM_001267550.2(TTN):c.74339G>A (p.Arg24780Gln) rs776673912 0.00001
NM_001267550.2(TTN):c.74766G>C (p.Arg24922Ser) rs372814940 0.00001
NM_001267550.2(TTN):c.74860C>T (p.Leu24954Phe) rs202191466 0.00001
NM_001267550.2(TTN):c.74981C>T (p.Pro24994Leu) rs531281558 0.00001
NM_001267550.2(TTN):c.75142T>C (p.Leu25048=) rs1034492140 0.00001
NM_001267550.2(TTN):c.75364G>A (p.Val25122Met) rs376821762 0.00001
NM_001267550.2(TTN):c.76124A>T (p.Tyr25375Phe) rs374494927 0.00001
NM_001267550.2(TTN):c.76994T>G (p.Leu25665Arg) rs188012906 0.00001
NM_001267550.2(TTN):c.7783A>G (p.Met2595Val) rs760786665 0.00001
NM_001267550.2(TTN):c.78000A>G (p.Thr26000=) rs1178033234 0.00001
NM_001267550.2(TTN):c.7818G>A (p.Ala2606=) rs935809232 0.00001
NM_001267550.2(TTN):c.78248A>G (p.Tyr26083Cys) rs910116004 0.00001
NM_001267550.2(TTN):c.79855C>T (p.Arg26619Cys) rs757229467 0.00001
NM_001267550.2(TTN):c.80167C>T (p.Arg26723Cys) rs1412497882 0.00001
NM_001267550.2(TTN):c.80712A>G (p.Ile26904Met) rs773395582 0.00001
NM_001267550.2(TTN):c.82739C>T (p.Thr27580Met) rs748535477 0.00001
NM_001267550.2(TTN):c.83017C>A (p.Pro27673Thr) rs769343491 0.00001
NM_001267550.2(TTN):c.83064_83073del (p.Ala27689fs) rs794729351 0.00001
NM_001267550.2(TTN):c.84171A>G (p.Gly28057=) rs746728021 0.00001
NM_001267550.2(TTN):c.84398A>G (p.Asn28133Ser) rs727505053 0.00001
NM_001267550.2(TTN):c.84892C>T (p.Arg28298Trp) rs779581886 0.00001
NM_001267550.2(TTN):c.85458C>T (p.Tyr28486=) rs978230375 0.00001
NM_001267550.2(TTN):c.85979T>C (p.Ile28660Thr) rs397517733 0.00001
NM_001267550.2(TTN):c.864C>T (p.His288=) rs772543040 0.00001
NM_001267550.2(TTN):c.87001G>A (p.Val29001Ile) rs750591986 0.00001
NM_001267550.2(TTN):c.87600G>C (p.Met29200Ile) rs750362675 0.00001
NM_001267550.2(TTN):c.88735G>A (p.Val29579Ile) rs879204059 0.00001
NM_001267550.2(TTN):c.89258T>A (p.Leu29753His) rs369279892 0.00001
NM_001267550.2(TTN):c.89552C>A (p.Ala29851Asp) rs774885355 0.00001
NM_001267550.2(TTN):c.91199A>T (p.Tyr30400Phe) rs376494747 0.00001
NM_001267550.2(TTN):c.92317C>T (p.Arg30773Ter) rs794729301 0.00001
NM_001267550.2(TTN):c.93603C>T (p.Phe31201=) rs765759269 0.00001
NM_001267550.2(TTN):c.9434G>A (p.Arg3145Lys) rs727503682 0.00001
NM_001267550.2(TTN):c.9450A>T (p.Arg3150=) rs558077210 0.00001
NM_001267550.2(TTN):c.94530A>G (p.Pro31510=) rs902954756 0.00001
NM_001267550.2(TTN):c.94627A>G (p.Ile31543Val) rs771491701 0.00001
NM_001267550.2(TTN):c.95008C>T (p.Arg31670Ter) rs1322596650 0.00001
NM_001267550.2(TTN):c.95187G>C (p.Trp31729Cys) rs869320742 0.00001
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu) rs753334568 0.00001
NM_001267550.2(TTN):c.95539C>T (p.Arg31847Cys) rs774814532 0.00001
NM_001267550.2(TTN):c.95686G>A (p.Glu31896Lys) rs745365163 0.00001
NM_001267550.2(TTN):c.95983G>A (p.Glu31995Lys) rs776682000 0.00001
NM_001267550.2(TTN):c.97054C>T (p.Arg32352Cys) rs753874904 0.00001
NM_001267550.2(TTN):c.97673G>A (p.Arg32558Gln) rs369237346 0.00001
NM_001267550.2(TTN):c.97754C>G (p.Pro32585Arg) rs373959972 0.00001
NM_001267550.2(TTN):c.97976A>T (p.Glu32659Val) rs747898161 0.00001
NM_001267550.2(TTN):c.98465A>G (p.Asp32822Gly) rs191054704 0.00001
NM_001267550.2(TTN):c.98506C>T (p.Arg32836Ter) rs869312085 0.00001
NM_001271.4(CHD2):c.1503-5T>C rs1008040869 0.00001
NM_001271.4(CHD2):c.5120G>A (p.Arg1707Gln) rs61759469 0.00001
NM_001271938.2(MEGF8):c.1255C>T (p.Arg419Ter) rs1222471099 0.00001
NM_001276345.2(TNNT2):c.601-1G>A rs483352835 0.00001
NM_001276345.2(TNNT2):c.886C>T (p.Arg296Cys) rs367785431 0.00001
NM_001277115.2(DNAH11):c.6565C>T (p.Arg2189Ter) rs778698443 0.00001
NM_001278716.2(FBXL4):c.292C>T (p.Arg98Ter) rs1554222130 0.00001
NM_001283009.2(RTEL1):c.1476G>T (p.Met492Ile) rs370343781 0.00001
NM_001289808.2(CRYAB):c.2T>C (p.Met1Thr) rs577253222 0.00001
NM_001289808.2(CRYAB):c.343del (p.Ser115fs) rs281865142 0.00001
NM_001291303.3(FAT4):c.10752G>A (p.Leu3584=) rs1357511665 0.00001
NM_001292063.2(OTOG):c.3682+1G>A rs554063575 0.00001
NM_001298.3(CNGA3):c.1315C>T (p.Arg439Trp) rs749842881 0.00001
NM_001312909.2(FAM111A):c.1477C>T (p.Arg493Ter) rs761191576 0.00001
NM_001324144.2(ZNF41):c.38C>T (p.Ala13Val) rs200972908 0.00001
NM_001330260.2(SCN8A):c.2074G>A (p.Gly692Arg) rs1037521613 0.00001
NM_001330260.2(SCN8A):c.4687A>G (p.Ile1563Val) rs751979396 0.00001
NM_001347721.2(DYRK1A):c.1823A>T (p.His608Leu) rs1212700979 0.00001
NM_001347721.2(DYRK1A):c.300+7C>T rs537532878 0.00001
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp) rs119103229 0.00001
NM_001353921.2(ARHGEF9):c.639G>A (p.Met213Ile) rs1384182085 0.00001
NM_001355436.2(SPTB):c.3154G>A (p.Gly1052Ser) rs768317667 0.00001
NM_001355436.2(SPTB):c.3778A>T (p.Asn1260Tyr) rs776378723 0.00001
NM_001355436.2(SPTB):c.3916C>T (p.Arg1306Ter) rs150471537 0.00001
NM_001358530.2(MOCS1):c.1150G>A (p.Glu384Lys) rs751603831 0.00001
NM_001360.3(DHCR7):c.1327C>T (p.Arg443Cys) rs535561852 0.00001
NM_001360.3(DHCR7):c.506C>T (p.Ser169Leu) rs80338855 0.00001
NM_001360.3(DHCR7):c.841G>A (p.Val281Met) rs398123607 0.00001
NM_001360016.2(G6PD):c.406C>T (p.Arg136Cys) rs979416826 0.00001
NM_001365088.1(SLC12A6):c.379G>T (p.Glu127Ter) rs199747285 0.00001
NM_001367721.1(CASK):c.1503+3A>G rs1468715588 0.00001
NM_001369.3(DNAH5):c.2432-3A>G rs1773163926 0.00001
NM_001370259.2(MEN1):c.1481C>T (p.Pro494Leu) rs1060499993 0.00001
NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg) rs397514412 0.00001
NM_001370658.1(BTD):c.124G>A (p.Val42Met) rs397507170 0.00001
NM_001370658.1(BTD):c.1543C>G (p.Leu515Val) rs771537277 0.00001
NM_001370658.1(BTD):c.1553G>A (p.Arg518His) rs397514429 0.00001
NM_001370658.1(BTD):c.1559A>G (p.Tyr520Cys) rs397514431 0.00001
NM_001370658.1(BTD):c.175C>T (p.Arg59Cys) rs104893687 0.00001
NM_001370658.1(BTD):c.409C>T (p.Arg137Cys) rs397514363 0.00001
NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr) rs397507175 0.00001
NM_001371596.2(MFSD8):c.1361T>C (p.Met454Thr) rs559155109 0.00001
NM_001371986.1(UNC80):c.1078C>T (p.Arg360Ter) rs200659479 0.00001
NM_001371986.1(UNC80):c.9708+1G>A rs2093445172 0.00001
NM_001372051.1(CASP8):c.742C>T (p.Arg248Trp) rs17860424 0.00001
NM_001372066.1(TFAP2A):c.1203G>C (p.Gln401His) rs1420479673 0.00001
NM_001374385.1(ATP8B1):c.1798C>T (p.Arg600Trp) rs780186596 0.00001
NM_001375524.1(TRRAP):c.1133C>T (p.Thr378Met) rs782605085 0.00001
NM_001375524.1(TRRAP):c.2651C>G (p.Ala884Gly) rs782162105 0.00001
NM_001375524.1(TRRAP):c.6806A>G (p.Asn2269Ser) rs529639313 0.00001
NM_001375524.1(TRRAP):c.8068G>A (p.Val2690Met) rs1439878240 0.00001
NM_001375524.1(TRRAP):c.9629C>T (p.Thr3210Ile) rs1360401833 0.00001
NM_001376.5(DYNC1H1):c.4635C>T (p.Val1545=) rs1416911485 0.00001
NM_001377.3(DYNC2H1):c.10198C>T (p.Arg3400Ter) rs943680446 0.00001
NM_001377.3(DYNC2H1):c.1759C>T (p.Arg587Cys) rs137853030 0.00001
NM_001377295.2(GNAT2):c.937C>T (p.Arg313Ter) rs748981899 0.00001
NM_001378120.1(MBD5):c.1489A>G (p.Ile497Val) rs771672174 0.00001
NM_001378452.1(ITPR1):c.140A>G (p.Asn47Ser) rs561470737 0.00001
NM_001378609.3(OTOGL):c.28A>G (p.Met10Val) rs1277996676 0.00001
NM_001378615.1(CC2D2A):c.4582C>T (p.Arg1528Cys) rs118204052 0.00001
NM_001379500.1(COL18A1):c.2338C>T (p.Gln780Ter) rs786205554 0.00001
NM_001379500.1(COL18A1):c.2743C>T (p.Arg915Ter) rs753824908 0.00001
NM_001384140.1(PCDH15):c.401G>A (p.Arg134Gln) rs767966376 0.00001
NM_001384732.1(CPLANE1):c.4155dup (p.Leu1386fs) rs1398880084 0.00001
NM_001384732.1(CPLANE1):c.7760A>G (p.Glu2587Gly) rs766541647 0.00001
NM_001429.4(EP300):c.6294A>G (p.Gln2098=) rs1190484549 0.00001
NM_001457.4(FLNB):c.1358A>G (p.Asn453Ser) rs754067988 0.00001
NM_001458.5(FLNC):c.3476G>A (p.Arg1159Gln) rs141199483 0.00001
NM_001458.5(FLNC):c.5199+1G>T rs1465588989 0.00001
NM_001458.5(FLNC):c.5272C>T (p.Arg1758Trp) rs369187211 0.00001
NM_001458.5(FLNC):c.6608G>A (p.Arg2203His) rs1063262 0.00001
NM_001458.5(FLNC):c.8080G>A (p.Val2694Ile) rs765388755 0.00001
NM_001543.5(NDST1):c.1831G>A (p.Gly611Ser) rs606231459 0.00001
NM_001563.4(IMPG1):c.378G>A (p.Trp126Ter) rs373792616 0.00001
NM_001605.3(AARS1):c.2521-5T>G rs1555539335 0.00001
NM_001609.4(ACADSB):c.295C>T (p.Gln99Ter) rs760791287 0.00001
NM_001673.5(ASNS):c.1192dup (p.Tyr398fs) rs773348232 0.00001
NM_001673.5(ASNS):c.1439C>T (p.Ser480Phe) rs754043007 0.00001
NM_001692.4(ATP6V1B1):c.1248+1G>C rs1553420702 0.00001
NM_001692.4(ATP6V1B1):c.242T>C (p.Leu81Pro) rs121964880 0.00001
NM_001792.5(CDH2):c.2422C>T (p.Arg808Ter) rs759639016 0.00001
NM_001844.5(COL2A1):c.2129C>T (p.Pro710Leu) rs747446924 0.00001
NM_001844.5(COL2A1):c.2659C>T (p.Arg887Ter) rs1399676515 0.00001
NM_001844.5(COL2A1):c.353C>T (p.Pro118Leu) rs777669076 0.00001
NM_001845.6(COL4A1):c.3825A>G (p.Gly1275=) rs1474341500 0.00001
NM_001845.6(COL4A1):c.4796C>T (p.Ala1599Val) rs766472965 0.00001
NM_001846.4(COL4A2):c.1776+1G>A rs886039602 0.00001
NM_001849.4(COL6A2):c.2197G>A (p.Gly733Arg) rs886042922 0.00001
NM_001849.4(COL6A2):c.2200C>T (p.Arg734Cys) rs886038496 0.00001
NM_001849.4(COL6A2):c.2329T>C (p.Cys777Arg) rs267606747 0.00001
NM_001853.4(COL9A3):c.1387G>A (p.Gly463Arg) rs776587206 0.00001
NM_001853.4(COL9A3):c.369+1G>A rs766029215 0.00001
NM_001854.4(COL11A1):c.1706C>T (p.Pro569Leu) rs760689529 0.00001
NM_001854.4(COL11A1):c.4172A>T (p.Lys1391Ile) rs1239154521 0.00001
NM_001854.4(COL11A1):c.478G>A (p.Ala160Thr) rs146954848 0.00001
NM_001875.5(CPS1):c.1912C>T (p.Arg638Ter) rs759201450 0.00001
NM_001875.5(CPS1):c.1926del (p.Asp642fs) rs1326644714 0.00001
NM_001875.5(CPS1):c.2883_2895del (p.Tyr962fs) rs1375304341 0.00001
NM_001875.5(CPS1):c.4237C>G (p.Gln1413Glu) rs141178702 0.00001
NM_001918.5(DBT):c.1017G>A (p.Lys339=) rs1490661508 0.00001
NM_001918.5(DBT):c.1291C>T (p.Arg431Ter) rs398123660 0.00001
NM_001918.5(DBT):c.365A>G (p.Tyr122Cys) rs727503896 0.00001
NM_001927.4(DES):c.1063C>T (p.Arg355Ter) rs762808690 0.00001
NM_001927.4(DES):c.1180G>A (p.Val394Met) rs776786349 0.00001
NM_001927.4(DES):c.218G>A (p.Arg73Gln) rs752518966 0.00001
NM_001931.5(DLAT):c.1728C>A (p.Phe576Leu) rs119103240 0.00001
NM_001953.5(TYMP):c.228G>A (p.Met76Ile) rs1064792859 0.00001
NM_001985.3(ETFB):c.490C>T (p.Arg164Trp) rs148045813 0.00001
NM_001985.3(ETFB):c.61C>T (p.Arg21Ter) rs374288379 0.00001
NM_002087.4(GRN):c.708+1G>A rs63749817 0.00001
NM_002150.3(HPD):c.75G>A (p.Trp25Ter) rs367674632 0.00001
NM_002180.3(IGHMBP2):c.2362C>T (p.Arg788Ter) rs199839840 0.00001
NM_002206.3(ITGA7):c.2392C>T (p.Arg798Ter) rs755438542 0.00001
NM_002206.3(ITGA7):c.247C>T (p.Gln83Ter) rs1055839662 0.00001
NM_002225.5(IVD):c.456+2T>C rs398123683 0.00001
NM_002225.5(IVD):c.890C>T (p.Ala297Val) rs796051983 0.00001
NM_002230.4(JUP):c.902A>G (p.Glu301Gly) rs782058451 0.00001
NM_002397.5(MEF2C):c.480T>C (p.Pro160=) rs200518765 0.00001
NM_002439.5(MSH3):c.2179C>T (p.Arg727Ter) rs376667075 0.00001
NM_002470.4(MYH3):c.5198C>A (p.Thr1733Lys) rs539740208 0.00001
NM_002473.6(MYH9):c.3262G>A (p.Ala1088Thr) rs1178789950 0.00001
NM_002473.6(MYH9):c.3894G>T (p.Lys1298Asn) rs755837040 0.00001
NM_002473.6(MYH9):c.5854G>C (p.Asp1952His) rs1247127142 0.00001
NM_002485.5(NBN):c.2184+1G>T rs756363734 0.00001
NM_002485.5(NBN):c.265C>T (p.Arg89Ter) rs1057516320 0.00001
NM_002529.4(NTRK1):c.2281C>T (p.Arg761Trp) rs759637817 0.00001
NM_002529.4(NTRK1):c.638T>C (p.Leu213Pro) rs747711259 0.00001
NM_002615.7(SERPINF1):c.907C>T (p.Arg303Ter) rs763291398 0.00001
NM_002637.4(PHKA1):c.2890G>A (p.Gly964Ser) rs367798015 0.00001
NM_002667.5(PLN):c.116T>G (p.Leu39Ter) rs111033560 0.00001
NM_002693.3(POLG):c.116A>G (p.Gln39Arg) rs749750052 0.00001
NM_002693.3(POLG):c.129G>A (p.Gln43=) rs570989155 0.00001
NM_002693.3(POLG):c.1599C>G (p.Cys533Trp) rs754246294 0.00001
NM_002693.3(POLG):c.1735C>T (p.Arg579Trp) rs556925652 0.00001
NM_002693.3(POLG):c.679C>T (p.Arg227Trp) rs121918056 0.00001
NM_002693.3(POLG):c.926G>A (p.Arg309His) rs780953863 0.00001
NM_002769.5(PRSS1):c.365G>A (p.Arg122His) rs111033565 0.00001
NM_002772.3(TMPRSS15):c.1350dup (p.Val451fs) rs765937590 0.00001
NM_002775.5(HTRA1):c.589C>T (p.Arg197Ter) rs1438223502 0.00001
NM_002834.5(PTPN11):c.849G>T (p.Leu283=) rs1380555031 0.00001
NM_003000.3(SDHB):c.286G>A (p.Gly96Ser) rs587782243 0.00001
NM_003001.5(SDHC):c.214C>T (p.Arg72Cys) rs756676111 0.00001
NM_003002.4(SDHD):c.274G>T (p.Asp92Tyr) rs80338845 0.00001
NM_003036.4(SKI):c.1555C>T (p.Arg519Cys) rs775800782 0.00001
NM_003038.5(SLC1A4):c.1369C>T (p.Arg457Trp) rs761533681 0.00001
NM_003041.4(SLC5A2):c.1031C>T (p.Ala344Val) rs766548165 0.00001
NM_003060.4(SLC22A5):c.1006C>T (p.Arg336Ter) rs754008420 0.00001
NM_003060.4(SLC22A5):c.43G>T (p.Gly15Trp) rs267607052 0.00001
NM_003060.4(SLC22A5):c.77G>A (p.Ser26Asn) rs772578415 0.00001
NM_003060.4(SLC22A5):c.825-1G>C rs1057516805 0.00001
NM_003060.4(SLC22A5):c.83G>T (p.Ser28Ile) rs72552724 0.00001
NM_003114.5(SPAG1):c.2367del (p.Ser789fs) rs757398573 0.00001
NM_003119.4(SPG7):c.1730G>A (p.Gly577Asp) rs1329063851 0.00001
NM_003119.4(SPG7):c.1A>G (p.Met1Val) rs794726906 0.00001
NM_003119.4(SPG7):c.415C>T (p.Arg139Ter) rs370777371 0.00001
NM_003126.4(SPTA1):c.1833+1G>A rs1035389616 0.00001
NM_003126.4(SPTA1):c.1900A>G (p.Lys634Glu) rs377757393 0.00001
NM_003126.4(SPTA1):c.2954T>C (p.Leu985Ser) rs774722673 0.00001
NM_003126.4(SPTA1):c.3314A>C (p.Asn1105Thr) rs200193956 0.00001
NM_003126.4(SPTA1):c.3584C>T (p.Thr1195Met) rs781270002 0.00001
NM_003126.4(SPTA1):c.3674A>G (p.His1225Arg) rs758565569 0.00001
NM_003126.4(SPTA1):c.4339-2A>C rs368931075 0.00001
NM_003126.4(SPTA1):c.5336T>C (p.Leu1779Pro) rs577123327 0.00001
NM_003126.4(SPTA1):c.6452G>T (p.Arg2151Ile) rs202169454 0.00001
NM_003126.4(SPTA1):c.6631C>T (p.Arg2211Cys) rs773800556 0.00001
NM_003126.4(SPTA1):c.7134+2T>G rs1170758603 0.00001
NM_003126.4(SPTA1):c.802C>T (p.Arg268Ter) rs764157190 0.00001
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln) rs773138218 0.00001
NM_003476.5(CSRP3):c.449G>A (p.Cys150Tyr) rs761507504 0.00001
NM_003560.4(PLA2G6):c.1974C>A (p.Asn658Lys) rs1048444597 0.00001
NM_003571.4(BFSP2):c.859C>T (p.Arg287Trp) rs104893685 0.00001
NM_003742.4(ABCB11):c.2494C>T (p.Arg832Cys) rs772294884 0.00001
NM_003742.4(ABCB11):c.3458G>A (p.Arg1153His) rs748862206 0.00001
NM_004004.6(GJB2):c.408C>A (p.Tyr136Ter) rs786204690 0.00001
NM_004004.6(GJB2):c.583A>G (p.Met195Val) rs532203068 0.00001
NM_004006.3(DMD):c.1754T>G (p.Ile585Ser) rs376238937 0.00001
NM_004006.3(DMD):c.1919C>T (p.Thr640Met) rs183677010 0.00001
NM_004006.3(DMD):c.243G>A (p.Leu81=) rs748842563 0.00001
NM_004006.3(DMD):c.2473T>G (p.Trp825Gly) rs769988372 0.00001
NM_004006.3(DMD):c.2617T>C (p.Cys873Arg) rs200872948 0.00001
NM_004006.3(DMD):c.4449G>A (p.Met1483Ile) rs765355046 0.00001
NM_004006.3(DMD):c.6152G>A (p.Arg2051Gln) rs756696562 0.00001
NM_004006.3(DMD):c.7016A>G (p.His2339Arg) rs398124041 0.00001
NM_004006.3(DMD):c.7427A>G (p.Asn2476Ser) rs757394130 0.00001
NM_004006.3(DMD):c.8488C>T (p.Arg2830Trp) rs1569547242 0.00001
NM_004006.3(DMD):c.8705G>A (p.Arg2902Gln) rs754308757 0.00001
NM_004006.3(DMD):c.9074A>G (p.Lys3025Arg) rs778961643 0.00001
NM_004006.3(DMD):c.9790C>T (p.Arg3264Trp) rs373448002 0.00001
NM_004006.3(DMD):c.985T>A (p.Ser329Thr) rs756590471 0.00001
NM_004092.4(ECHS1):c.176A>G (p.Asn59Ser) rs201865375 0.00001
NM_004092.4(ECHS1):c.523G>A (p.Gly175Ser) rs962504241 0.00001
NM_004183.4(BEST1):c.38G>A (p.Arg13His) rs281865209 0.00001
NM_004183.4(BEST1):c.637G>A (p.Glu213Lys) rs138932379 0.00001
NM_004183.4(BEST1):c.934G>A (p.Asp312Asn) rs281865277 0.00001
NM_004260.4(RECQL4):c.3056-2A>C rs786200889 0.00001
NM_004281.4(BAG3):c.1184G>A (p.Arg395Lys) rs111787446 0.00001
NM_004281.4(BAG3):c.988C>T (p.Pro330Ser) rs762376423 0.00001
NM_004287.5(GOSR2):c.1A>G (p.Met1Val) rs879328855 0.00001
NM_004320.6(ATP2A1):c.1184+1G>A rs551660089 0.00001
NM_004320.6(ATP2A1):c.2366C>T (p.Pro789Leu) rs121918115 0.00001
NM_004366.6(CLCN2):c.1709G>A (p.Trp570Ter) rs201330912 0.00001
NM_004369.4(COL6A3):c.3617C>T (p.Thr1206Ile) rs949598599 0.00001
NM_004369.4(COL6A3):c.3668T>C (p.Leu1223Pro) rs772944531 0.00001
NM_004369.4(COL6A3):c.7983C>T (p.Phe2661=) rs375222168 0.00001
NM_004369.4(COL6A3):c.8584G>A (p.Val2862Ile) rs371745862 0.00001
NM_004370.6(COL12A1):c.334+1G>A rs1157488856 0.00001
NM_004370.6(COL12A1):c.441C>T (p.Gly147=) rs370007721 0.00001
NM_004370.6(COL12A1):c.5957C>T (p.Thr1986Met) rs768824483 0.00001
NM_004370.6(COL12A1):c.8470-3C>A rs1169467662 0.00001
NM_004380.3(CREBBP):c.3250+4G>A rs1301154478 0.00001
NM_004415.4(DSP):c.4518del (p.Arg1506fs) rs1289037294 0.00001
NM_004531.5(MOCS2):c.226G>A (p.Gly76Arg) rs780085174 0.00001
NM_004551.3(NDUFS3):c.419G>A (p.Arg140Gln) rs372417584 0.00001
NM_004614.5(TK2):c.310C>T (p.Arg104Cys) rs1194187379 0.00001
NM_004614.5(TK2):c.441del (p.Tyr148fs) rs768548319 0.00001
NM_004621.6(TRPC6):c.2299G>A (p.Val767Met) rs200772226 0.00001
NM_004646.4(NPHS1):c.1048T>C (p.Ser350Pro) rs386833863 0.00001
NM_004646.4(NPHS1):c.1099C>T (p.Arg367Cys) rs386833865 0.00001
NM_004646.4(NPHS1):c.1555C>T (p.Pro519Ser) rs386833884 0.00001
NM_004646.4(NPHS1):c.2131C>A (p.Arg711Ser) rs764181464 0.00001
NM_004655.4(AXIN2):c.1713-2A>G rs766170422 0.00001
NM_004722.4(AP4M1):c.1044C>T (p.Ser348=) rs746663793 0.00001
NM_004722.4(AP4M1):c.1321C>T (p.Arg441Ter) rs886041126 0.00001
NM_004826.4(ECEL1):c.1210C>T (p.Arg404Cys) rs532757890 0.00001
NM_004958.4(MTOR):c.6169A>G (p.Met2057Val) rs1010993658 0.00001
NM_004975.4(KCNB1):c.1936G>A (p.Ala646Thr) rs1447311755 0.00001
NM_004975.4(KCNB1):c.2323C>G (p.Pro775Ala) rs142461221 0.00001
NM_004984.4(KIF5A):c.2993-6C>T rs1057522322 0.00001
NM_005002.5(NDUFA9):c.1078C>T (p.Arg360Cys) rs3210083 0.00001
NM_005055.5(RAPSN):c.491G>A (p.Arg164His) rs374588028 0.00001
NM_005157.6(ABL1):c.2167C>T (p.Pro723Ser) rs1258494852 0.00001
NM_005188.4(CBL):c.1259G>A (p.Arg420Gln) rs267606708 0.00001
NM_005228.5(EGFR):c.3143C>T (p.Ala1048Val) rs78244461 0.00001
NM_005247.4(FGF3):c.314T>A (p.Leu105His) rs1856132408 0.00001
NM_005249.5(FOXG1):c.1058A>G (p.Asn353Ser) rs749879411 0.00001
NM_005334.3(HCFC1):c.2972C>G (p.Thr991Ser) rs782636507 0.00001
NM_005334.3(HCFC1):c.939A>G (p.Thr313=) rs782309363 0.00001
NM_005343.4(HRAS):c.546G>A (p.Met182Ile) rs748639813 0.00001
NM_005373.3(MPL):c.317C>T (p.Pro106Leu) rs750046020 0.00001
NM_005422.4(TECTA):c.4430G>A (p.Arg1477His) rs527976707 0.00001
NM_005458.8(GABBR2):c.1096G>A (p.Ala366Thr) rs1342775753 0.00001
NM_005458.8(GABBR2):c.1641G>C (p.Lys547Asn) rs1228267111 0.00001
NM_005458.8(GABBR2):c.1924C>T (p.Arg642Cys) rs756391068 0.00001
NM_005458.8(GABBR2):c.25C>G (p.Gln9Glu) rs1026022583 0.00001
NM_005502.4(ABCA1):c.689G>A (p.Arg230His) rs767710036 0.00001
NM_005529.7(HSPG2):c.1120C>T (p.Arg374Ter) rs759220039 0.00001
NM_005529.7(HSPG2):c.12922C>T (p.Gln4308Ter) rs2097958823 0.00001
NM_005529.7(HSPG2):c.253C>T (p.Arg85Ter) rs747493127 0.00001
NM_005529.7(HSPG2):c.4275A>G (p.Pro1425=) rs540961117 0.00001
NM_005591.4(MRE11):c.1074A>G (p.Pro358=) rs876659934 0.00001
NM_005591.4(MRE11):c.1633_1640del (p.Leu545fs) rs876660186 0.00001
NM_005591.4(MRE11):c.350A>G (p.Asn117Ser) rs137852760 0.00001
NM_005592.4(MUSK):c.1744G>A (p.Gly582Arg) rs202126269 0.00001
NM_005609.4(PYGM):c.107T>G (p.Leu36Arg) rs1394188143 0.00001
NM_005609.4(PYGM):c.1193C>T (p.Pro398Leu) rs773204705 0.00001
NM_005609.4(PYGM):c.152A>G (p.Asp51Gly) rs397514631 0.00001
NM_005609.4(PYGM):c.1708C>T (p.Arg570Trp) rs377225525 0.00001
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter) rs119103255 0.00001
NM_005609.4(PYGM):c.1804C>T (p.Arg602Trp) rs750195683 0.00001
NM_005609.4(PYGM):c.1996C>G (p.Gln666Glu) rs119103256 0.00001
NM_005609.4(PYGM):c.2021C>T (p.Ala674Val) rs1413827545 0.00001
NM_005609.4(PYGM):c.2024C>T (p.Ser675Leu) rs794727189 0.00001
NM_005609.4(PYGM):c.247A>T (p.Ile83Phe) rs761616685 0.00001
NM_005609.4(PYGM):c.347T>C (p.Leu116Pro) rs776680924 0.00001
NM_005609.4(PYGM):c.580C>T (p.Arg194Trp) rs376581557 0.00001
NM_005609.4(PYGM):c.78_79del (p.Glu27fs) rs755117847 0.00001
NM_005633.4(SOS1):c.3510+9A>G rs1229357367 0.00001
NM_005677.4(COLQ):c.57dup (p.Ile20fs) rs777102590 0.00001
NM_005732.4(RAD50):c.3598C>T (p.Arg1200Ter) rs750586158 0.00001
NM_005732.4(RAD50):c.552-1G>A rs1236278956 0.00001
NM_005739.4(RASGRP1):c.327-1C>G rs772305736 0.00001
NM_005857.5(ZMPSTE24):c.1019G>A (p.Trp340Ter) rs1402953071 0.00001
NM_005859.5(PURA):c.100G>A (p.Gly34Ser) rs1763036938 0.00001
NM_005912.3(MC4R):c.181G>A (p.Glu61Lys) rs370479598 0.00001
NM_005912.3(MC4R):c.493C>T (p.Arg165Trp) rs13447332 0.00001
NM_005957.5(MTHFR):c.1517A>G (p.Tyr506Cys) rs764650203 0.00001
NM_005984.5(SLC25A1):c.389G>A (p.Gly130Asp) rs368647424 0.00001
NM_005993.5(TBCD):c.1423G>A (p.Ala475Thr) rs775014444 0.00001
NM_005993.5(TBCD):c.2314C>T (p.Arg772Cys) rs181969865 0.00001
NM_005993.5(TBCD):c.3307G>A (p.Gly1103Ser) rs772606107 0.00001
NM_005993.5(TBCD):c.686T>G (p.Leu229Arg) rs778417127 0.00001
NM_006005.3(WFS1):c.2380G>A (p.Glu794Lys) rs201078003 0.00001
NM_006005.3(WFS1):c.376G>A (p.Ala126Thr) rs145639028 0.00001
NM_006017.3(PROM1):c.1320C>T (p.Val440=) rs765602610 0.00001
NM_006070.6(TFG):c.317G>A (p.Arg106His) rs376971794 0.00001
NM_006180.6(NTRK2):c.1278C>T (p.Thr426=) rs1217234880 0.00001
NM_006208.3(ENPP1):c.1652A>G (p.Tyr551Cys) rs753071702 0.00001
NM_006208.3(ENPP1):c.749C>T (p.Pro250Leu) rs754659608 0.00001
NM_006231.4(POLE):c.3373C>T (p.Arg1125Ter) rs139603739 0.00001
NM_006231.4(POLE):c.5866G>A (p.Glu1956Lys) rs749992643 0.00001
NM_006363.6(SEC23B):c.1385A>G (p.Tyr462Cys) rs780978419 0.00001
NM_006363.6(SEC23B):c.742G>A (p.Glu248Lys) rs398124227 0.00001
NM_006432.5(NPC2):c.358C>T (p.Pro120Ser) rs104894458 0.00001
NM_006516.4(SLC2A1):c.-2C>T rs587784388 0.00001
NM_006516.4(SLC2A1):c.229A>G (p.Met77Val) rs776583130 0.00001
NM_006580.4(CLDN16):c.437G>A (p.Arg146His) rs772241737 0.00001
NM_006734.4(HIVEP2):c.6062G>A (p.Cys2021Tyr) rs749509886 0.00001
NM_006736.6(DNAJB2):c.175+2T>A rs562669797 0.00001
NM_006767.4(LZTR1):c.1251C>G (p.Tyr417Ter) rs1924657431 0.00001
NM_006767.4(LZTR1):c.1330G>A (p.Asp444Asn) rs775051211 0.00001
NM_006767.4(LZTR1):c.1889G>A (p.Arg630Gln) rs781776791 0.00001
NM_006767.4(LZTR1):c.2407-2A>G rs1158550690 0.00001
NM_006767.4(LZTR1):c.2462T>C (p.Ile821Thr) rs1275511136 0.00001
NM_006767.4(LZTR1):c.365C>T (p.Ser122Leu) rs587777177 0.00001
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln) rs1223430276 0.00001
NM_006767.4(LZTR1):c.993+1G>A rs770368435 0.00001
NM_006790.3(MYOT):c.1439A>G (p.Glu480Gly) rs727504026 0.00001
NM_006922.4(SCN3A):c.1840C>G (p.Pro614Ala) rs868728039 0.00001
NM_006922.4(SCN3A):c.1855G>A (p.Glu619Lys) rs577018955 0.00001
NM_006922.4(SCN3A):c.3985G>A (p.Val1329Ile) rs765498698 0.00001
NM_006939.4(SOS2):c.1714G>A (p.Val572Ile) rs762733592 0.00001
NM_006946.4(SPTBN2):c.6703G>A (p.Gly2235Arg) rs772594172 0.00001
NM_006946.4(SPTBN2):c.6802G>A (p.Val2268Met) rs750623875 0.00001
NM_007103.4(NDUFV1):c.1156C>T (p.Arg386Cys) rs150966634 0.00001
NM_007126.5(VCP):c.1460G>A (p.Arg487His) rs767379602 0.00001
NM_007126.5(VCP):c.283C>T (p.Arg95Cys) rs121909332 0.00001
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys) rs201206424 0.00001
NM_007194.4(CHEK2):c.28C>T (p.Gln10Ter) rs1064793817 0.00001
NM_007194.4(CHEK2):c.592+3A>T rs587782849 0.00001
NM_007289.4(MME):c.1590G>A (p.Val530=) rs1209332250 0.00001
NM_007289.4(MME):c.440-2A>C rs200435950 0.00001
NM_007294.4(BRCA1):c.154C>T (p.Leu52Phe) rs80357084 0.00001
NM_007294.4(BRCA1):c.2329T>G (p.Tyr777Asp) rs397507199 0.00001
NM_007294.4(BRCA1):c.4096+1G>A rs80358178 0.00001
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter) rs80357433 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_007294.4(BRCA1):c.964G>C (p.Ala322Pro) rs80357252 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_012082.4(ZFPM2):c.334C>T (p.Arg112Ter) rs121908602 0.00001
NM_012243.3(SLC35A3):c.73C>T (p.Arg25Cys) rs753997682 0.00001
NM_012470.4(TNPO3):c.1105A>G (p.Ile369Val) rs139019562 0.00001
NM_012470.4(TNPO3):c.831G>C (p.Glu277Asp) rs748070271 0.00001
NM_012470.4(TNPO3):c.856C>T (p.Arg286Cys) rs745576236 0.00001
NM_013254.4(TBK1):c.2139-7G>A rs534404556 0.00001
NM_013382.7(POMT2):c.1238G>C (p.Arg413Pro) rs190285831 0.00001
NM_014049.5(ACAD9):c.1237G>A (p.Glu413Lys) rs149753643 0.00001
NM_014140.4(SMARCAL1):c.1439C>T (p.Pro480Leu) rs758367100 0.00001
NM_014140.4(SMARCAL1):c.1934G>A (p.Arg645His) rs1281345070 0.00001
NM_014141.6(CNTNAP2):c.3476-7C>T rs1057520468 0.00001
NM_014249.4(NR2E3):c.309C>A (p.Cys103Ter) rs955766374 0.00001
NM_014305.4(TGDS):c.885-2A>C rs775253964 0.00001
NM_014317.5(PDSS1):c.661C>T (p.Arg221Ter) rs767499454 0.00001
NM_014336.5(AIPL1):c.465G>T (p.Gln155His) rs758001091 0.00001
NM_014384.3(ACAD8):c.988C>T (p.Arg330Trp) rs121908420 0.00001
NM_014402.5(UQCRQ):c.134C>T (p.Ser45Phe) rs11544803 0.00001
NM_014625.4(NPHS2):c.503G>A (p.Arg168His) rs530318579 0.00001
NM_014712.3(SETD1A):c.2928+3G>A rs1596681011 0.00001
NM_014727.3(KMT2B):c.1435C>T (p.Arg479Trp) rs753528166 0.00001
NM_014727.3(KMT2B):c.449G>A (p.Arg150Gln) rs962331806 0.00001
NM_014855.3(AP5Z1):c.931C>T (p.Arg311Ter) rs376075583 0.00001
NM_014874.4(MFN2):c.748C>T (p.Arg250Trp) rs373107074 0.00001
NM_014946.4(SPAST):c.129G>C (p.Glu43Asp) rs542793579 0.00001
NM_015046.7(SETX):c.6106+3dup rs1844639633 0.00001
NM_015046.7(SETX):c.7139G>A (p.Arg2380Gln) rs145397619 0.00001
NM_015107.3(PHF8):c.1731-2A>G rs1437750762 0.00001
NM_015166.4(MLC1):c.177+1G>T rs1374593138 0.00001
NM_015166.4(MLC1):c.525+1G>A rs769135961 0.00001
NM_015166.4(MLC1):c.881C>T (p.Pro294Leu) rs1050220787 0.00001
NM_015272.5(RPGRIP1L):c.1372G>T (p.Glu458Ter) rs776941281 0.00001
NM_015272.5(RPGRIP1L):c.1701C>A (p.Ala567=) rs1555604462 0.00001
NM_015330.6(SPECC1L):c.2168A>G (p.Asp723Gly) rs1318284690 0.00001
NM_015340.4(LARS2):c.196C>T (p.Arg66Ter) rs1214818871 0.00001
NM_015386.3(COG4):c.529C>T (p.Arg177Ter) rs376663459 0.00001
NM_015443.4(KANSL1):c.2194A>G (p.Thr732Ala) rs1036089094 0.00001
NM_015443.4(KANSL1):c.808_809del (p.Leu270fs) rs551541795 0.00001
NM_015559.3(SETBP1):c.1844G>A (p.Arg615Gln) rs760185109 0.00001
NM_015559.3(SETBP1):c.2915G>A (p.Arg972Gln) rs759901142 0.00001
NM_015559.3(SETBP1):c.3485G>A (p.Arg1162Gln) rs751046263 0.00001
NM_015559.3(SETBP1):c.3847G>C (p.Glu1283Gln) rs772299236 0.00001
NM_015559.3(SETBP1):c.4058G>T (p.Gly1353Val) rs1486460574 0.00001
NM_015599.3(PGM3):c.1474C>T (p.Arg492Ter) rs144104577 0.00001
NM_015599.3(PGM3):c.965T>C (p.Ile322Thr) rs745508510 0.00001
NM_015702.3(MMADHC):c.154+1G>A rs1385597423 0.00001
NM_015915.5(ATL1):c.1246C>T (p.Arg416Cys) rs387906941 0.00001
NM_015915.5(ATL1):c.781_782insA (p.Phe261fs) rs1181733510 0.00001
NM_015937.6(PIGT):c.1595C>T (p.Thr532Met) rs1466637488 0.00001
NM_015958.3(DPH5):c.779A>G (p.His260Arg) rs746680777 0.00001
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) rs387907196 0.00001
NM_016097.5(IER3IP1):c.233T>C (p.Leu78Pro) rs387907012 0.00001
NM_016188.5(ACTL6B):c.652T>C (p.Tyr218His) rs747962927 0.00001
NM_016204.4(GDF2):c.1051T>C (p.Tyr351His) rs1486994359 0.00001
NM_016213.5(TRIP4):c.1396C>T (p.Arg466Ter) rs745835965 0.00001
NM_016239.4(MYO15A):c.4351G>A (p.Asp1451Asn) rs767270134 0.00001
NM_016529.6(ATP8A2):c.3272+1G>A rs779337270 0.00001
NM_017534.6(MYH2):c.4537+1G>A rs567336764 0.00001
NM_017534.6(MYH2):c.4696C>T (p.Arg1566Cys) rs529367667 0.00001
NM_017534.6(MYH2):c.533C>T (p.Thr178Ile) rs756953958 0.00001
NM_017739.4(POMGNT1):c.1010T>C (p.Ile337Thr) rs138745073 0.00001
NM_017780.4(CHD7):c.7170T>G (p.Asp2390Glu) rs199966549 0.00001
NM_017849.4(TMEM127):c.394G>A (p.Ala132Thr) rs750870974 0.00001
NM_017890.5(VPS13B):c.4186C>T (p.Gln1396Ter) rs559590419 0.00001
NM_017947.4(MOCOS):c.2326C>T (p.Arg776Cys) rs750896617 0.00001
NM_018026.4(PACS1):c.444+9G>A rs748523504 0.00001
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009 0.00001
NM_018075.5(ANO10):c.1163-9A>G rs1368543726 0.00001
NM_018082.6(POLR3B):c.2302C>T (p.Arg768Cys) rs371453512 0.00001
NM_018082.6(POLR3B):c.308G>A (p.Arg103His) rs780148992 0.00001
NM_018127.7(ELAC2):c.245+2T>A rs748684065 0.00001
NM_018196.4(TMLHE):c.359-2A>G rs782792356 0.00001
NM_018297.4(NGLY1):c.1150-1G>C rs532007026 0.00001
NM_018489.3(ASH1L):c.221C>T (p.Ser74Leu) rs769272721 0.00001
NM_018699.4(PRDM5):c.670A>T (p.Lys224Ter) rs1064794819 0.00001
NM_019032.6(ADAMTSL4):c.1480C>T (p.Arg494Ter) rs1471582038 0.00001
NM_019098.5(CNGB3):c.1063C>T (p.Arg355Ter) rs764742792 0.00001
NM_020166.5(MCCC1):c.863A>G (p.Glu288Gly) rs746500530 0.00001
NM_020166.5(MCCC1):c.872del (p.Ala291fs) rs748269732 0.00001
NM_020320.5(RARS2):c.1679G>A (p.Arg560His) rs756502974 0.00001
NM_020433.5(JPH2):c.1674G>A (p.Pro558=) rs779915700 0.00001
NM_020549.5(CHAT):c.916G>A (p.Val306Ile) rs551219437 0.00001
NM_020632.3(ATP6V0A4):c.2419C>T (p.Arg807Ter) rs769164245 0.00001
NM_020632.3(ATP6V0A4):c.2420G>A (p.Arg807Gln) rs28939081 0.00001
NM_020765.3(UBR4):c.13828C>A (p.Pro4610Thr) rs761960636 0.00001
NM_020822.3(KCNT1):c.1257C>G (p.Val419=) rs547714141 0.00001
NM_020884.7(MYH7B):c.2335G>A (p.Val779Ile) rs376856126 0.00001
NM_020937.4(FANCM):c.4465G>A (p.Gly1489Arg) rs183784665 0.00001
NM_021008.4(DEAF1):c.553C>T (p.Gln185Ter) rs1860672898 0.00001
NM_021625.5(TRPV4):c.943C>T (p.Arg315Trp) rs267607143 0.00001
NM_021830.5(TWNK):c.1172G>A (p.Arg391His) rs556445621 0.00001
NM_021830.5(TWNK):c.562G>A (p.Asp188Asn) rs146532064 0.00001
NM_021830.5(TWNK):c.967C>T (p.Arg323Ter) rs863223919 0.00001
NM_021922.3(FANCE):c.421C>T (p.Arg141Ter) rs121434506 0.00001
NM_021922.3(FANCE):c.940C>T (p.Gln314Ter) rs760150539 0.00001
NM_021942.6(TRAPPC11):c.1522C>T (p.Gln508Ter) rs1234694300 0.00001
NM_021942.6(TRAPPC11):c.3014C>T (p.Pro1005Leu) rs764158202 0.00001
NM_021942.6(TRAPPC11):c.3189+1G>A rs1170374164 0.00001
NM_021971.4(GMPPB):c.728G>A (p.Arg243Gln) rs749730219 0.00001
NM_021971.4(GMPPB):c.781C>T (p.Arg261Cys) rs746357591 0.00001
NM_022114.4(PRDM16):c.2169G>A (p.Ser723=) rs775363690 0.00001
NM_022124.6(CDH23):c.4210-2A>G rs557620034 0.00001
NM_022124.6(CDH23):c.6696del (p.Ala2232_Val2233insTer) rs1278603247 0.00001
NM_022132.5(MCCC2):c.1342G>A (p.Gly448Arg) rs766045910 0.00001
NM_022132.5(MCCC2):c.1441G>A (p.Val481Met) rs767575019 0.00001
NM_022132.5(MCCC2):c.281+5G>A rs944539388 0.00001
NM_022132.5(MCCC2):c.994C>T (p.Arg332Ter) rs727504010 0.00001
NM_022168.4(IFIH1):c.2317G>T (p.Glu773Ter) rs201472224 0.00001
NM_022336.4(EDAR):c.266G>A (p.Arg89His) rs121908450 0.00001
NM_022356.4(P3H1):c.1474-4G>A rs746650866 0.00001
NM_022445.4(TPK1):c.382C>T (p.Leu128Phe) rs760881424 0.00001
NM_022445.4(TPK1):c.620A>T (p.Asp207Val) rs747262651 0.00001
NM_024301.5(FKRP):c.1384C>T (p.Pro462Ser) rs768606230 0.00001
NM_024301.5(FKRP):c.1433T>C (p.Ile478Thr) rs1301397800 0.00001
NM_024301.5(FKRP):c.266C>T (p.Pro89Leu) rs770711331 0.00001
NM_024301.5(FKRP):c.544T>C (p.Tyr182His) rs753390261 0.00001
NM_024301.5(FKRP):c.745G>A (p.Ala249Thr) rs757955092 0.00001
NM_024301.5(FKRP):c.926A>G (p.Tyr309Cys) rs104894679 0.00001
NM_024306.5(FA2H):c.703C>T (p.Arg235Cys) rs387907039 0.00001
NM_024422.6(DSC2):c.631-2A>G rs397514042 0.00001
NM_024494.3(WNT2B):c.205C>T (p.Arg69Ter) rs370244148 0.00001
NM_024589.3(ROGDI):c.117+1G>A rs570952151 0.00001
NM_024589.3(ROGDI):c.795G>A (p.Leu265=) rs749782882 0.00001
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn) rs200688985 0.00001
NM_024649.5(BBS1):c.951+1G>A rs746875134 0.00001
NM_024757.5(EHMT1):c.2110C>T (p.Leu704Phe) rs866512456 0.00001
NM_024809.5(TCTN2):c.1506-2A>G rs374349989 0.00001
NM_024996.7(GFM1):c.100C>T (p.Arg34Ter) rs766234016 0.00001
NM_025074.7(FRAS1):c.3191G>T (p.Arg1064Leu) rs779286671 0.00001
NM_025114.4(CEP290):c.1554T>A (p.Thr518=) rs767529344 0.00001
NM_025136.4(OPA3):c.123C>G (p.Ile41Met) rs763083098 0.00001
NM_025137.4(SPG11):c.2316+1G>A rs312262740 0.00001
NM_025243.4(SLC19A3):c.1252C>G (p.Gln418Glu) rs368364131 0.00001
NM_030632.3(ASXL3):c.2471C>T (p.Pro824Leu) rs764053964 0.00001
NM_030653.4(DDX11):c.1949-1G>A rs779058797 0.00001
NM_030940.4(ISCA1):c.259G>A (p.Glu87Lys) rs776679653 0.00001
NM_031206.7(LAS1L):c.948C>T (p.Cys316=) rs1410871672 0.00001
NM_031229.4(RBCK1):c.697_703dup (p.Glu235fs) rs730880330 0.00001
NM_031307.4(PUS3):c.1303C>T (p.Arg435Ter) rs774005569 0.00001
NM_031844.3(HNRNPU):c.2031T>C (p.Leu677=) rs1680670991 0.00001
NM_031942.5(CDCA7):c.1148G>A (p.Arg383His) rs772929976 0.00001
NM_032119.4(ADGRV1):c.740C>T (p.Thr247Ile) rs375653808 0.00001
NM_032383.5(HPS3):c.2589+2T>C rs1411572278 0.00001
NM_032444.4(SLX4):c.2137C>T (p.Arg713Ter) rs760126773 0.00001
NM_032551.5(KISS1R):c.305T>C (p.Leu102Pro) rs104894703 0.00001
NM_032607.3(CREB3L3):c.138G>A (p.Trp46Ter) rs912378886 0.00001
NM_032861.4(SERAC1):c.262_265dup (p.Gly89fs) rs797045105 0.00001
NM_033056.4(PCDH15):c.4604_4608dup (p.Ser1537fs) rs747516133 0.00001
NM_033305.3(VPS13A):c.7867C>T (p.Arg2623Ter) rs1055609567 0.00001
NM_033409.4(SLC52A3):c.1223G>A (p.Gly408Asp) rs1057524605 0.00001
NM_052865.4(MGME1):c.456G>A (p.Trp152Ter) rs587776943 0.00001
NM_054012.4(ASS1):c.1088G>A (p.Arg363Gln) rs771937610 0.00001
NM_054012.4(ASS1):c.349G>A (p.Gly117Ser) rs770944877 0.00001
NM_054012.4(ASS1):c.496-2A>G rs398123130 0.00001
NM_054012.4(ASS1):c.835C>T (p.Arg279Ter) rs121908645 0.00001
NM_054012.4(ASS1):c.970+5G>A rs372128852 0.00001
NM_078470.6(COX15):c.211C>T (p.Arg71Ter) rs751819645 0.00001
NM_080680.3(COL11A2):c.1097C>T (p.Ala366Val) rs534335166 0.00001
NM_080680.3(COL11A2):c.1442C>T (p.Ala481Val) rs749620886 0.00001
NM_080680.3(COL11A2):c.2554C>T (p.Arg852Ter) rs1387164225 0.00001
NM_080680.3(COL11A2):c.939+1G>A rs750173113 0.00001
NM_133433.4(NIPBL):c.1434G>A (p.Glu478=) rs750562280 0.00001
NM_133443.4(GPT2):c.274C>T (p.Arg92Ter) rs190315044 0.00001
NM_138422.4(ADAT3):c.430G>A (p.Val144Met) rs730882213 0.00001
NM_138477.4(CDAN1):c.2062C>T (p.Arg688Trp) rs772828912 0.00001
NM_138477.4(CDAN1):c.2140C>T (p.Arg714Trp) rs80338696 0.00001
NM_138576.4(BCL11B):c.1482C>T (p.Ala494=) rs765782024 0.00001
NM_138691.3(TMC1):c.1939T>C (p.Ser647Pro) rs138527651 0.00001
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter) rs144193508 0.00001
NM_138694.4(PKHD1):c.2167C>T (p.Arg723Cys) rs794727366 0.00001
NM_138694.4(PKHD1):c.23T>C (p.Leu8Pro) rs750588859 0.00001
NM_138694.4(PKHD1):c.2811G>A (p.Trp937Ter) rs1344820986 0.00001
NM_138694.4(PKHD1):c.5060T>C (p.Ile1687Thr) rs794727566 0.00001
NM_139242.4(MTFMT):c.9G>A (p.Val3=) rs994088488 0.00001
NM_139343.3(BIN1):c.1461+1G>A rs764951306 0.00001
NM_144687.4(NLRP12):c.2360dup (p.Met787fs) rs768447330 0.00001
NM_144687.4(NLRP12):c.2879T>A (p.Leu960Ter) rs745881796 0.00001
NM_145207.3(AFG2A):c.2140C>T (p.Arg714Ter) rs754135389 0.00001
NM_145239.3(PRRT2):c.883C>T (p.Arg295Trp) rs200185554 0.00001
NM_148919.4(PSMB8):c.686G>A (p.Arg229His) rs547653681 0.00001
NM_152263.4(TPM3):c.643-3C>T rs529845435 0.00001
NM_152305.3(POGLUT1):c.11G>A (p.Trp4Ter) rs587777293 0.00001
NM_152305.3(POGLUT1):c.466T>A (p.Tyr156Asn) rs751780827 0.00001
NM_152305.3(POGLUT1):c.628C>T (p.Arg210Ter) rs776542098 0.00001
NM_152393.4(KLHL40):c.931C>A (p.Arg311Ser) rs763283033 0.00001
NM_152419.3(HGSNAT):c.1464+1G>A rs398124545 0.00001
NM_152443.3(RDH12):c.226G>C (p.Gly76Arg) rs368489658 0.00001
NM_152490.5(B3GALNT2):c.1368+1G>A rs1479230229 0.00001
NM_152490.5(B3GALNT2):c.740G>A (p.Gly247Glu) rs367543072 0.00001
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs) rs386834055 0.00001
NM_152564.5(VPS13B):c.5220G>T (p.Glu1740Asp) rs780598553 0.00001
NM_152618.3(BBS12):c.65T>C (p.Phe22Ser) rs565073445 0.00001
NM_152703.5(SAMD9L):c.2957G>A (p.Arg986His) rs769611275 0.00001
NM_153006.3(NAGS):c.1268+2T>C rs202041339 0.00001
NM_153033.5(KCTD7):c.280C>T (p.Arg94Trp) rs387907260 0.00001
NM_153033.5(KCTD7):c.550C>T (p.Arg184Cys) rs387907246 0.00001
NM_153240.5(NPHP3):c.1174C>T (p.Arg392Ter) rs1485445500 0.00001
NM_153700.2(STRC):c.4510del (p.Glu1504fs) rs759816064 0.00001
NM_153816.6(SNX14):c.252C>G (p.Tyr84Ter) rs1171657935 0.00001
NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys) rs397517889 0.00001
NM_170707.4(LMNA):c.1262T>C (p.Leu421Pro) rs267607564 0.00001
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys) rs150840924 0.00001
NM_170707.4(LMNA):c.1412G>A (p.Arg471His) rs267607578 0.00001
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) rs60864230 0.00001
NM_170707.4(LMNA):c.725C>T (p.Ala242Val) rs397517906 0.00001
NM_170784.3(MKKS):c.748G>A (p.Gly250Arg) rs768929313 0.00001
NM_172107.4(KCNQ2):c.2019G>A (p.Pro673=) rs769646940 0.00001
NM_172250.3(MMAA):c.1076G>A (p.Arg359Gln) rs864309731 0.00001
NM_172250.3(MMAA):c.833G>A (p.Gly278Asp) rs761964238 0.00001
NM_172351.3(CD46):c.287-2A>G rs759813089 0.00001
NM_172362.3(KCNH1):c.2957T>C (p.Phe986Ser) rs770510070 0.00001
NM_173551.5(ANKS6):c.1235G>A (p.Arg412Gln) rs764745147 0.00001
NM_173660.5(DOK7):c.481G>A (p.Gly161Arg) rs758131044 0.00001
NM_174934.4(SCN4B):c.535C>T (p.Leu179Phe) rs121434386 0.00001
NM_174936.4(PCSK9):c.1547G>T (p.Gly516Val) rs891322948 0.00001
NM_181705.4(LYRM7):c.2T>C (p.Met1Thr) rs531275086 0.00001
NM_182476.3(COQ6):c.1078C>T (p.Arg360Trp) rs778856227 0.00001
NM_182649.2(PCNA):c.683G>T (p.Ser228Ile) rs369958038 0.00001
NM_182760.4(SUMF1):c.445-1G>A rs1237016251 0.00001
NM_182760.4(SUMF1):c.445-2A>G rs1293658639 0.00001
NM_182914.3(SYNE2):c.2300A>T (p.Glu767Val) rs138419017 0.00001
NM_182925.5(FLT4):c.1481C>T (p.Thr494Met) rs566339142 0.00001
NM_182961.4(SYNE1):c.3735C>T (p.Leu1245=) rs758375991 0.00001
NM_182961.4(SYNE1):c.4561C>T (p.Arg1521Ter) rs771760718 0.00001
NM_182961.4(SYNE1):c.7161del (p.Lys2388fs) rs1220584620 0.00001
NM_182961.4(SYNE1):c.8562T>C (p.Asp2854=) rs757737346 0.00001
NM_183050.4(BCKDHB):c.274+1G>T rs377722320 0.00001
NM_183050.4(BCKDHB):c.970C>T (p.Arg324Ter) rs398124603 0.00001
NM_183235.3(RAB27A):c.121A>G (p.Thr41Ala) rs1896186645 0.00001
NM_198239.2(CCN6):c.434G>A (p.Cys145Tyr) rs121908899 0.00001
NM_199242.3(UNC13D):c.1055+1G>A rs754205110 0.00001
NM_199242.3(UNC13D):c.1727+1G>A rs754882266 0.00001
NM_199242.3(UNC13D):c.760C>T (p.Arg254Cys) rs558726483 0.00001
NM_201384.3(PLEC):c.1304C>T (p.Ala435Val) rs782509734 0.00001
NM_201384.3(PLEC):c.2559C>T (p.Ser853=) rs976620376 0.00001
NM_201384.3(PLEC):c.4220C>T (p.Ala1407Val) rs548430154 0.00001
NM_201384.3(PLEC):c.6012G>C (p.Arg2004=) rs782708058 0.00001
NM_201384.3(PLEC):c.8735C>T (p.Ala2912Val) rs935096656 0.00001
NM_201384.3(PLEC):c.9713C>T (p.Pro3238Leu) rs782085661 0.00001
NM_201525.4(ADGRG1):c.286C>T (p.Arg96Ter) rs146278035 0.00001
NM_206926.2(SELENON):c.301+926G>A rs934913626 0.00001
NM_206926.2(SELENON):c.463C>T (p.Arg155Ter) rs775713184 0.00001
NM_206933.4(USH2A):c.13348C>T (p.Pro4450Ser) rs141696914 0.00001
NM_206933.4(USH2A):c.8232G>C (p.Trp2744Cys) rs1424639717 0.00001
NM_206933.4(USH2A):c.8254G>A (p.Gly2752Arg) rs201863550 0.00001
NM_206933.4(USH2A):c.9259G>A (p.Val3087Ile) rs200382994 0.00001
NM_207034.3(EDN3):c.293C>A (p.Thr98Lys) rs745795470 0.00001
NM_207352.4(CYP4V2):c.283G>A (p.Gly95Arg) rs199476187 0.00001
NM_212482.4(FN1):c.4141C>T (p.Pro1381Ser) rs754336717 0.00001
NM_212482.4(FN1):c.74G>A (p.Gly25Glu) rs778918483 0.00001
NM_213599.3(ANO5):c.1031C>G (p.Pro344Arg) rs541372136 0.00001
NM_213599.3(ANO5):c.139-1del rs868484837 0.00001
NM_213599.3(ANO5):c.169C>T (p.Arg57Trp) rs1323349209 0.00001
NM_213599.3(ANO5):c.206_207del (p.Asp69fs) rs1254796261 0.00001
NM_213599.3(ANO5):c.2345C>G (p.Ser782Ter) rs753138577 0.00001
NM_213599.3(ANO5):c.368C>T (p.Ser123Leu) rs575008764 0.00001
NM_213599.3(ANO5):c.637A>G (p.Arg213Gly) rs1490746741 0.00001
NM_213599.3(ANO5):c.69C>A (p.Tyr23Ter) rs762035813 0.00001
G6PD NARA rs587776730
NC_000010.11:g.71645832del rs1589292855
NC_000011.10:g.17634839_17634845dup rs1295062471
NC_000018.9:g.77748581_77748614del34 rs535089924
NM_000016.6(ACADM):c.-6_6delinsACCCCGAGTG (p.Met1fs) rs875989865
NM_000016.6(ACADM):c.1102_1105del (p.Ala369fs) rs387906297
NM_000016.6(ACADM):c.1207A>G (p.Thr403Ala) rs1462472677
NM_000016.6(ACADM):c.165del (p.Phe55fs) rs1319192670
NM_000016.6(ACADM):c.346T>G (p.Cys116Gly) rs875989863
NM_000016.6(ACADM):c.387+1del rs786204424
NM_000016.6(ACADM):c.683C>A (p.Thr228Asn) rs149678400
NM_000017.4(ACADS):c.505A>C (p.Thr169Pro) rs777002501
NM_000018.3(ACADVL):c.1375dup rs796051916
NM_000018.4(ACADVL):c.1055T>C (p.Met352Thr) rs2071296504
NM_000018.4(ACADVL):c.1056_1058delinsA (p.Met352fs) rs2071296591
NM_000018.4(ACADVL):c.105_109dup (p.Arg37fs) rs1555527532
NM_000018.4(ACADVL):c.1077+1G>A rs140989450
NM_000018.4(ACADVL):c.1103A>C (p.Gln368Pro) rs776063244
NM_000018.4(ACADVL):c.1616C>A (p.Ala539Asp) rs781613690
NM_000018.4(ACADVL):c.1630_1645del (p.Ala544fs) rs1131691553
NM_000018.4(ACADVL):c.1837C>G (p.Arg613Gly)
NM_000018.4(ACADVL):c.1843C>T (p.Arg615Ter) rs1057520507
NM_000018.4(ACADVL):c.343del rs387906249
NM_000018.4(ACADVL):c.481G>A (p.Ala161Thr) rs375284481
NM_000018.4(ACADVL):c.507_527del (p.Met169_Gly175del) rs796051920
NM_000018.4(ACADVL):c.632_633del (p.Val211fs) rs1489679976
NM_000018.4(ACADVL):c.640T>G (p.Phe214Val) rs1192969297
NM_000018.4(ACADVL):c.689C>T (p.Thr230Ile) rs1241935771
NM_000018.4(ACADVL):c.829_831del (p.Glu277del) rs796051913
NM_000018.4(ACADVL):c.856_857del (p.Arg286fs) rs2071269046
NM_000018.4(ACADVL):c.869dup (p.Ile291fs) rs886044671
NM_000019.4(ACAT1):c.248AAG[2] (p.Glu85del) rs866364527
NM_000019.4(ACAT1):c.64_72+10del rs1318268067
NM_000020.3(ACVRL1):c.914C>T (p.Ser305Phe) rs1555153126
NM_000022.4(ADA):c.366_367del (p.Asp123fs) rs758073965
NM_000022.4(ADA):c.385G>A (p.Val129Met) rs121908731
NM_000022.4(ADA):c.478+6T>A rs1555844600
NM_000022.4(ADA):c.516C>A (p.Tyr172Ter) rs748810619
NM_000022.4(ADA):c.532del (p.Val177_Val178insTer) rs886041796
NM_000022.4(ADA):c.956_960del (p.Glu319fs) rs771266745
NM_000023.4(SGCA):c.186C>G (p.Tyr62Ter) rs766400853
NM_000023.4(SGCA):c.241C>T (p.Arg81Cys) rs398123098
NM_000023.4(SGCA):c.246C>A (p.Ser82Arg) rs1598265282
NM_000023.4(SGCA):c.271G>T (p.Gly91Cys) rs890921874
NM_000023.4(SGCA):c.304G>T (p.Val102Phe) rs1266940329
NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter) rs780264754
NM_000023.4(SGCA):c.403C>T (p.Gln135Ter) rs886043221
NM_000023.4(SGCA):c.409G>C (p.Glu137Gln) rs372210292
NM_000023.4(SGCA):c.464del (p.Ser155fs) rs1555568775
NM_000023.4(SGCA):c.49G>A (p.Gly17Arg) rs573792379
NM_000023.4(SGCA):c.724G>T (p.Val242Phe) rs200166783
NM_000023.4(SGCA):c.754_755del (p.Lys252fs) rs1057517377
NM_000023.4(SGCA):c.850C>G (p.Arg284Gly) rs137852623
NM_000023.4(SGCA):c.904del (p.Leu302fs) rs2144501172
NM_000026.4(ADSL):c.725C>T (p.Thr242Ile) rs1601586359
NM_000030.3(AGXT):c.1007T>A (p.Val336Asp) rs180177155
NM_000030.3(AGXT):c.198C>A (p.Tyr66Ter) rs121908521
NM_000030.3(AGXT):c.322T>C (p.Trp108Arg) rs180177197
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg) rs34116584
NM_000030.3(AGXT):c.335C>A (p.Ala112Asp) rs796052061
NM_000030.3(AGXT):c.584T>G (p.Met195Arg) rs180177244
NM_000032.5(ALAS2):c.488G>A (p.Arg163His) rs2146722839
NM_000032.5(ALAS2):c.508C>T (p.Arg170Cys) rs1557248142
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His) rs886044777
NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp) rs128624220
NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu) rs1557054776
NM_000033.4(ABCD1):c.1637C>T (p.Pro546Leu) rs1603235394
NM_000033.4(ABCD1):c.1771C>T (p.Arg591Trp) rs398123106
NM_000033.4(ABCD1):c.1772G>A (p.Arg591Gln) rs1557054873
NM_000033.4(ABCD1):c.1866-10G>A rs398123108
NM_000033.4(ABCD1):c.1966T>C (p.Ser656Pro) rs2148399307
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln) rs1557055340
NM_000033.4(ABCD1):c.208G>C (p.Val70Leu) rs782701925
NM_000033.4(ABCD1):c.229_237del (p.Trp77_Leu79del) rs1569540680
NM_000033.4(ABCD1):c.454C>T (p.Arg152Cys) rs1569540693
NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp) rs1131691916
NM_000033.4(ABCD1):c.614C>A (p.Ala205Glu) rs398123113
NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp) rs782083931
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys) rs193922098
NM_000033.4(ABCD1):c.839G>A (p.Arg280His) rs781904944
NM_000033.4(ABCD1):c.869C>T (p.Ser290Leu) rs868934170
NM_000033.4(ABCD1):c.880G>A (p.Ala294Thr) rs1131691954
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs) rs387906225
NM_000036.3(AMPD1):c.5del (p.Pro2fs) rs557878856
NM_000037.4(ANK1):c.1277G>A (p.Arg426Gln) rs776721065
NM_000037.4(ANK1):c.1405-9G>A rs2486915489
NM_000037.4(ANK1):c.1624G>A (p.Val542Met)
NM_000037.4(ANK1):c.1702-2A>G rs1554567249
NM_000037.4(ANK1):c.1801-17G>A rs786205243
NM_000037.4(ANK1):c.1A>G (p.Met1Val) rs1554627073
NM_000037.4(ANK1):c.2394_2397del (p.Ser799fs) rs2150605978
NM_000037.4(ANK1):c.3179C>T (p.Pro1060Leu) rs267601925
NM_000037.4(ANK1):c.3533-2A>G rs2486763550
NM_000037.4(ANK1):c.3555G>A (p.Trp1185Ter) rs1586145051
NM_000037.4(ANK1):c.3893_3894del (p.Ser1298fs) rs2486750826
NM_000037.4(ANK1):c.3984+1G>T rs2486750141
NM_000037.4(ANK1):c.4000C>T (p.Arg1334Ter) rs1172677213
NM_000037.4(ANK1):c.409C>T (p.Gln137Ter) rs2150661792
NM_000037.4(ANK1):c.5001_5002del (p.Glu1667_Asn1668insTer)
NM_000037.4(ANK1):c.5162G>A (p.Trp1721Ter)
NM_000037.4(ANK1):c.6dup (p.Tyr3fs) rs2487374176
NM_000038.6(APC):c.1312+3A>G rs863225311
NM_000038.6(APC):c.7489dup (p.Ser2497fs) rs1409414498
NM_000039.3(APOA1):c.532_533dup (p.His179fs) rs781350389
NM_000039.3(APOA1):c.85dup (p.Gln29fs) rs753348565
NM_000044.6(AR):c.2678C>T (p.Pro893Leu) rs1602280356
NM_000046.5(ARSB):c.1001G>T (p.Ser334Ile) rs1554079311
NM_000046.5(ARSB):c.1340G>T (p.Cys447Phe) rs1465993279
NM_000046.5(ARSB):c.1601A>G (p.Ter534Trp) rs1554069655
NM_000046.5(ARSB):c.253TAC[1] (p.Tyr86del) rs969231209
NM_000046.5(ARSB):c.345G>A (p.Trp115Ter) rs2112530498
NM_000046.5(ARSB):c.359dup (p.Ser120fs) rs1302294029
NM_000046.5(ARSB):c.440A>C (p.His147Pro) rs1554088030
NM_000046.5(ARSB):c.904_905inv (p.Gly302Pro)
NM_000046.5(ARSB):c.923G>A (p.Gly308Glu) rs1554079333
NM_000046.5(ARSB):c.960C>G (p.Ser320Arg) rs762614315
NM_000046.5(ARSB):c.980G>A (p.Arg327Gln) rs772017949
NM_000048.4(ASL):c.556C>T (p.Arg186Trp) rs111407265
NM_000048.4(ASL):c.99C>G (p.His33Gln) rs142077823
NM_000049.4(ASPA):c.244dup (p.Met82fs) rs756198538
NM_000049.4(ASPA):c.340G>T (p.Asp114Tyr) rs1446467099
NM_000049.4(ASPA):c.437_449del (p.Ser146fs) rs2073669074
NM_000051.4(ATM):c.1027_1030del (p.Glu343fs) rs587780612
NM_000051.4(ATM):c.2638+2T>C rs587779826
NM_000051.4(ATM):c.2806_2809dup (p.Glu937fs) rs757237504
NM_000051.4(ATM):c.2921+1G>A rs587781558
NM_000051.4(ATM):c.2921+1G>C rs587781558
NM_000051.4(ATM):c.3381_3384del (p.Gln1128fs) rs587781971
NM_000051.4(ATM):c.3541A>T (p.Lys1181Ter) rs1057516981
NM_000051.4(ATM):c.3747-2A>G rs1057517213
NM_000051.4(ATM):c.4394T>C (p.Leu1465Pro) rs730881391
NM_000051.4(ATM):c.4735C>T (p.Gln1579Ter) rs869312755
NM_000051.4(ATM):c.513C>T (p.Tyr171=) rs786201693
NM_000051.4(ATM):c.5172dup (p.Asp1725fs) rs2135893222
NM_000051.4(ATM):c.5178-1G>A rs1555105579
NM_000051.4(ATM):c.5712dup (p.Ser1905fs) rs587781730
NM_000051.4(ATM):c.5944C>T (p.Gln1982Ter) rs1555111775
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp) rs397514577
NM_000051.4(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer) rs587782554
NM_000051.4(ATM):c.6976-2A>C rs587782403
NM_000051.4(ATM):c.7000_7003del (p.Tyr2334fs) rs786203421
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter) rs121434220
NM_000051.4(ATM):c.7515+1G>T rs1591161831
NM_000051.4(ATM):c.785T>A (p.Leu262Ter) rs864622163
NM_000051.4(ATM):c.7985T>A (p.Val2662Asp) rs863224463
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn) rs587782719
NM_000051.4(ATM):c.8732C>A (p.Thr2911Asn) rs794728018
NM_000051.4(ATM):c.8876_8879del (p.Asp2959fs) rs786204726
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter) rs770641163
NM_000051.4(ATM):c.8988-2A>G rs786202087
NM_000051.4(ATM):c.9019G>T (p.Glu3007Ter) rs876660382
NM_000053.4(ATP7B):c.1158_1159del (p.Val387fs) rs1593787789
NM_000053.4(ATP7B):c.1745_1746del (p.Ile582fs) rs753962912
NM_000053.4(ATP7B):c.2009_2015del (p.Ile669_Tyr670insTer) rs779904655
NM_000053.4(ATP7B):c.2230T>C (p.Ser744Pro) rs1593726081
NM_000053.4(ATP7B):c.2241C>T (p.Ile747=) rs757991922
NM_000053.4(ATP7B):c.2292_2312del (p.Asp765_Phe771del) rs2547714818
NM_000053.4(ATP7B):c.2304dup (p.Met769fs) rs137853287
NM_000053.4(ATP7B):c.2513del (p.Lys838fs) rs777362050
NM_000053.4(ATP7B):c.2532del (p.Val845fs) rs755709270
NM_000053.4(ATP7B):c.2755C>T (p.Arg919Trp) rs121907993
NM_000053.4(ATP7B):c.3301G>A (p.Gly1101Arg) rs786204483
NM_000053.4(ATP7B):c.3419del (p.Val1140fs)
NM_000053.4(ATP7B):c.3895C>T (p.Leu1299Phe) rs749472361
NM_000053.4(ATP7B):c.406A>G (p.Arg136Gly) rs557577836
NM_000053.4(ATP7B):c.4088C>T (p.Ser1363Phe) rs776848753
NM_000053.4(ATP7B):c.4118T>C (p.Leu1373Pro) rs780811477
NM_000053.4(ATP7B):c.4195del (p.Gln1399fs) rs886041336
NM_000053.4(ATP7B):c.447_452delinsC (p.Glu150fs) rs779669186
NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter) rs572147914
NM_000055.4(BCHE):c.522_537del (p.Asn173_Tyr174insTer) rs759643427
NM_000057.4(BLM):c.2583T>C (p.Asn861=) rs1896651230
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser) rs367543029
NM_000057.4(BLM):c.3638del (p.Glu1213fs) rs1057516547
NM_000057.4(BLM):c.4000_4004del (p.Arg1334fs) rs1057516261
NM_000057.4(BLM):c.479_480del (p.Asp159_Phe160insTer) rs1555418352
NM_000057.4(BLM):c.608_609del (p.Thr203fs) rs1170049553
NM_000057.4(BLM):c.800-2A>G rs1895690125
NM_000059.4(BRCA2):c.10102T>C (p.Ser3368Pro) rs786205482
NM_000059.4(BRCA2):c.2254_2257del (p.Asp752fs) rs80359326
NM_000059.4(BRCA2):c.2368G>T (p.Glu790Ter) rs398122746
NM_000059.4(BRCA2):c.3873del (p.Gln1291fs) rs398122772
NM_000059.4(BRCA2):c.4112dup (p.Phe1372fs) rs730881606
NM_000059.4(BRCA2):c.4133_4136del (p.Thr1378fs) rs80359430
NM_000059.4(BRCA2):c.4218_4221del (p.Lys1406fs) rs80359435
NM_000059.4(BRCA2):c.4366G>T (p.Glu1456Ter) rs876659847
NM_000059.4(BRCA2):c.4588A>T (p.Lys1530Ter) rs80358692
NM_000059.4(BRCA2):c.4936_4937del (p.Glu1646fs) rs431825323
NM_000059.4(BRCA2):c.5110A>T (p.Arg1704Ter) rs1064795652
NM_000059.4(BRCA2):c.6308C>A (p.Ser2103Ter) rs80358870
NM_000059.4(BRCA2):c.631G>C (p.Val211Leu) rs80358871
NM_000059.4(BRCA2):c.6466_6469del (p.Ser2156fs) rs80359596
NM_000059.4(BRCA2):c.7283T>A (p.Leu2428Ter) rs886040696
NM_000059.4(BRCA2):c.7331A>T (p.Asp2444Val) rs431825352
NM_000059.4(BRCA2):c.7630G>A (p.Gly2544Ser) rs587781485
NM_000059.4(BRCA2):c.7719dup (p.Trp2574fs) rs80359676
NM_000059.4(BRCA2):c.7846del (p.Ser2616fs) rs397507940
NM_000059.4(BRCA2):c.794-2A>G rs1566222053
NM_000059.4(BRCA2):c.7964A>G (p.Gln2655Arg) rs80359024
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys) rs80359027
NM_000059.4(BRCA2):c.7987G>A (p.Glu2663Lys) rs80359030
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val) rs397507954
NM_000059.4(BRCA2):c.8243G>A (p.Gly2748Asp) rs80359071
NM_000059.4(BRCA2):c.8331+2T>C rs398122602
NM_000059.4(BRCA2):c.8488-1G>A rs397507404
NM_000059.4(BRCA2):c.8754+4A>G rs81002893
NM_000059.4(BRCA2):c.9257G>C (p.Gly3086Ala) rs574271678
NM_000059.4(BRCA2):c.9286G>A (p.Glu3096Lys) rs80359199
NM_000059.4(BRCA2):c.9613_9614delinsCT (p.Ala3205Leu) rs276174926
NM_000063.6(C2):c.841_849+19del rs9332736
NM_000069.3(CACNA1S):c.1493G>A (p.Arg498His) rs150590855
NM_000069.3(CACNA1S):c.1493G>T (p.Arg498Leu) rs150590855
NM_000069.3(CACNA1S):c.2063+1G>A rs1407484817
NM_000069.3(CACNA1S):c.3667-1G>A rs1660735523
NM_000069.3(CACNA1S):c.4113+1G>A rs1558056376
NM_000069.3(CACNA1S):c.460A>G (p.Ser154Gly) rs761768992
NM_000069.3(CACNA1S):c.4860dup (p.Val1621fs) rs761214441
NM_000069.3(CACNA1S):c.5507G>A (p.Arg1836Gln) rs368214163
NM_000070.3(CAPN3):c.1027G>T (p.Glu343Ter) rs766334893
NM_000070.3(CAPN3):c.1076C>T (p.Pro359Leu) rs794727895
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000070.3(CAPN3):c.1327T>C (p.Ser443Pro) rs1595834751
NM_000070.3(CAPN3):c.1745+4_1745+7del rs794727082
NM_000070.3(CAPN3):c.1771del (p.Asp591fs) rs754761503
NM_000070.3(CAPN3):c.2134C>T (p.Leu712Phe) rs794727318
NM_000070.3(CAPN3):c.2148G>T (p.Glu716Asp) rs770894443
NM_000070.3(CAPN3):c.2179del (p.Trp727fs) rs886042964
NM_000070.3(CAPN3):c.2255ACG[1] (p.Asp753del) rs886043333
NM_000070.3(CAPN3):c.2279dup (p.Asn760fs) rs775130589
NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp) rs868791726
NM_000070.3(CAPN3):c.397G>A (p.Ala133Thr) rs946415346
NM_000070.3(CAPN3):c.468C>T (p.Ile156=) rs143942248
NM_000070.3(CAPN3):c.503G>A (p.Trp168Ter) rs1555420462
NM_000070.3(CAPN3):c.639dup (p.Gly214fs) rs886043222
NM_000070.3(CAPN3):c.756GAA[1] (p.Lys254del) rs794727697
NM_000070.3(CAPN3):c.883_886delinsCTT (p.Asp295fs) rs863224966
NM_000071.3(CBS):c.209+1G>C rs751464024
NM_000071.3(CBS):c.536_553del (p.Asp179_Leu184del) rs794727835
NM_000071.3(CBS):c.869C>T (p.Pro290Leu) rs760912339
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[3] (p.Ala4_Pro11dup) rs587780668
NM_000079.4(CHRNA1):c.737C>T (p.Ser246Phe) rs483353046
NM_000080.4(CHRNE):c.1093del (p.Ala365fs) rs886043239
NM_000080.4(CHRNE):c.1429del (p.Ala477fs) rs1396286715
NM_000080.4(CHRNE):c.442T>A (p.Cys148Ser) rs1597621396
NM_000080.4(CHRNE):c.488C>T (p.Ser163Leu) rs121909516
NM_000080.4(CHRNE):c.991C>T (p.Arg331Trp) rs121909515
NM_000081.4(LYST):c.148C>T (p.Arg50Ter) rs80338643
NM_000081.4(LYST):c.285T>C (p.Asp95=) rs747965676
NM_000081.4(LYST):c.345A>G (p.Gln115=) rs2527133215
NM_000082.3(ERCC8):c.78_79del rs2112532350
NM_000083.3(CLCN1):c.1097T>C (p.Val366Ala) rs1085307989
NM_000083.3(CLCN1):c.1231G>T (p.Gly411Cys) rs756199349
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs) rs768119034
NM_000083.3(CLCN1):c.1445G>A (p.Gly482Glu) rs1380726444
NM_000083.3(CLCN1):c.2789del (p.Pro930fs) rs749552056
NM_000083.3(CLCN1):c.2831dup (p.Gly945fs) rs755176513
NM_000083.3(CLCN1):c.434-2_434dup rs753470655
NM_000083.3(CLCN1):c.494T>G (p.Val165Gly) rs1586485438
NM_000083.3(CLCN1):c.568G>A (p.Gly190Arg) rs369773321
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser) rs797045032
NM_000085.5(CLCNKB):c.1897del (p.Thr632_Leu633insTer) rs863224858
NM_000088.4(COL1A1):c.1678G>T (p.Gly560Cys) rs67507747
NM_000088.4(COL1A1):c.1777G>A (p.Gly593Ser) rs66527965
NM_000088.4(COL1A1):c.203TGT[1] (p.Leu69del) rs1598302040
NM_000088.4(COL1A1):c.2650G>A (p.Gly884Ser) rs1567755602
NM_000088.4(COL1A1):c.3226G>A (p.Gly1076Ser) rs67394386
NM_000088.4(COL1A1):c.3505G>A (p.Gly1169Ser) rs67815019
NM_000089.4(COL1A2):c.1081G>A (p.Gly361Ser) rs1791894410
NM_000089.4(COL1A2):c.1901G>T (p.Gly634Val) rs72658147
NM_000089.4(COL1A2):c.2082C>T (p.Gly694=) rs193229878
NM_000089.4(COL1A2):c.2187+5G>A rs2484725506
NM_000089.4(COL1A2):c.2864G>A (p.Gly955Asp) rs2115952213
NM_000089.4(COL1A2):c.3260G>A (p.Gly1087Asp) rs72659335
NM_000089.4(COL1A2):c.587G>A (p.Gly196Asp) rs2484702812
NM_000091.5(COL4A3):c.1354G>A (p.Gly452Arg) rs772958162
NM_000091.5(COL4A3):c.1937dup (p.Glu647fs) rs758444182
NM_000091.5(COL4A3):c.3768del (p.Gly1257fs) rs2469885478
NM_000091.5(COL4A3):c.725G>A (p.Gly242Glu) rs1574699806
NM_000092.5(COL4A4):c.81_86del (p.27IL[1]) rs771943519
NM_000092.5(COL4A4):c.914_930+29del rs1553683757
NM_000093.5(COL5A1):c.4318C>T (p.Arg1440Ter) rs2132864295
NM_000093.5(COL5A1):c.4805_4813dup (p.Val1602_Tyr1604dup) rs752240390
NM_000093.5(COL5A1):c.766G>A (p.Asp256Asn) rs886038237
NM_000094.4(COL7A1):c.5165G>A (p.Gly1722Glu)
NM_000094.4(COL7A1):c.6023G>A (p.Arg2008His) rs1002845719
NM_000095.3(COMP):c.1270G>T (p.Asp424Tyr)
NM_000096.4(CP):c.607+1del rs753254095
NM_000098.3(CPT2):c.1810C>T (p.Pro604Ser) rs1645443275
NM_000098.3(CPT2):c.577C>T (p.Arg193Cys) rs375968699
NM_000098.3(CPT2):c.631C>T (p.Pro211Ser) rs796051942
NM_000100.4(CSTB):c.218_219del (p.Leu73fs) rs796943858
NM_000100.4(CSTB):c.64C>T (p.Gln22Ter) rs1569006250
NM_000101.4(CYBA):c.166del (p.Arg56fs) rs1352931329
NM_000103.4(CYP19A1):c.1058dup (p.Leu353fs) rs769461019
NM_000108.5(DLD):c.105C>G (p.Tyr35Ter) rs747810875
NM_000108.5(DLD):c.1436A>T (p.Asp479Val) rs397514649
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp) rs727504327
NM_000117.3(EMD):c.104AGA[2] (p.Lys37del) rs782507902
NM_000119.2(EPB42):c.929G>A (p.Arg310Gln) rs121917734
NM_000124.4(ERCC6):c.1432_1433insTC (p.Lys478fs) rs886047037
NM_000124.4(ERCC6):c.901C>T (p.Pro301Ser) rs766256094
NM_000126.4(ETFA):c.319_322del (p.His107fs) rs866218814
NM_000126.4(ETFA):c.806TAG[1] (p.Val270del) rs779140971
NM_000128.4(F11):c.1075del (p.Ile359fs) rs786204429
NM_000128.4(F11):c.16C>T (p.Gln6Ter) rs1554081288
NM_000132.4(F8):c.1910A>G (p.Asn637Ser) rs2073315379
NM_000133.4(F9):c.127C>T (p.Arg43Trp) rs1603264205
NM_000133.4(F9):c.835G>A (p.Ala279Thr) rs137852247
NM_000135.4(FANCA):c.105T>G (p.Tyr35Ter)
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs) rs878853660
NM_000135.4(FANCA):c.11C>A (p.Ser4Ter) rs1484087361
NM_000135.4(FANCA):c.1294del (p.Leu432fs) rs1211579979
NM_000135.4(FANCA):c.1567-1G>C rs1464032361
NM_000135.4(FANCA):c.1A>G (p.Met1Val) rs772751654
NM_000135.4(FANCA):c.1A>T (p.Met1Leu) rs772751654
NM_000135.4(FANCA):c.206_207del (p.Leu68_Cys69insTer) rs2143711627
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp) rs755546887
NM_000135.4(FANCA):c.2994T>G (p.Tyr998Ter) rs758384536
NM_000135.4(FANCA):c.3273C>A (p.Cys1091Ter) rs1450151864
NM_000135.4(FANCA):c.3850G>A (p.Ala1284Thr) rs142919010
NM_000135.4(FANCA):c.426+1G>A rs1343463467
NM_000135.4(FANCA):c.505G>C (p.Glu169Gln) rs372691338
NM_000135.4(FANCA):c.50dup (p.Arg18fs) rs748624754
NM_000135.4(FANCA):c.827-1G>T rs753728435
NM_000135.4(FANCA):c.987_990del (p.His330fs) rs772359099
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter) rs370974124
NM_000136.3(FANCC):c.355_360delinsA (p.Ser119fs) rs587779904
NM_000138.5(FBN1):c.3380G>A (p.Gly1127Asp) rs1064794882
NM_000138.5(FBN1):c.5513G>A (p.Gly1838Asp) rs78970689
NM_000138.5(FBN1):c.5672-3T>C rs193922217
NM_000138.5(FBN1):c.7699+5G>A rs1555394187
NM_000138.5(FBN1):c.7726C>T (p.Arg2576Cys) rs147195031
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) rs77543610
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000143.4(FH):c.555+1G>A rs1375252870
NM_000147.5(FUCA1):c.7del (p.Ala3fs) rs1639669672
NM_000151.4(G6PC1):c.1012G>T (p.Val338Phe) rs367727229
NM_000151.4(G6PC1):c.189G>C (p.Trp63Cys) rs764920787
NM_000151.4(G6PC1):c.562G>A (p.Gly188Ser) rs80356482
NM_000152.5(GAA):c.1062C>A (p.Tyr354Ter) rs1064796703
NM_000152.5(GAA):c.1103G>A (p.Gly368Asp) rs368244038
NM_000152.5(GAA):c.1375G>A (p.Asp459Asn) rs535644999
NM_000152.5(GAA):c.1438-1G>T rs147804176
NM_000152.5(GAA):c.1438-7_1438-5del rs764583466
NM_000152.5(GAA):c.1564C>G (p.Pro522Ala) rs892129065
NM_000152.5(GAA):c.1650dup (p.Thr551fs) rs766398206
NM_000152.5(GAA):c.1722C>T (p.Leu574=) rs561357893
NM_000152.5(GAA):c.1780C>T (p.Arg594Cys) rs1428112902
NM_000152.5(GAA):c.1781G>C (p.Arg594Pro) rs775450536
NM_000152.5(GAA):c.1802C>G (p.Ser601Trp) rs374470794
NM_000152.5(GAA):c.1841C>T (p.Thr614Met) rs369531647
NM_000152.5(GAA):c.1880C>T (p.Ser627Phe) rs1024137874
NM_000152.5(GAA):c.1903A>G (p.Asn635Asp) rs2143891559
NM_000152.5(GAA):c.1933G>T (p.Asp645Tyr) rs368438393
NM_000152.5(GAA):c.1940G>T (p.Cys647Phe) rs1265892085
NM_000152.5(GAA):c.1951_1952delinsT (p.Gly651fs) rs1567835781
NM_000152.5(GAA):c.2045A>G (p.Gln682Arg) rs1484576607
NM_000152.5(GAA):c.2155G>T (p.Ala719Ser) rs143324027
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg) rs1479740763
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser) rs752921215
NM_000152.5(GAA):c.2237G>T (p.Trp746Leu) rs752921215
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000152.5(GAA):c.2294G>A (p.Gly765Asp) rs1292367136
NM_000152.5(GAA):c.546G>C (p.Thr182=) rs143523371
NM_000152.5(GAA):c.569G>A (p.Arg190His) rs528367092
NM_000152.5(GAA):c.650C>T (p.Pro217Leu)
NM_000152.5(GAA):c.766_785delinsC (p.Tyr256fs) rs786204532
NM_000152.5(GAA):c.854C>G (p.Pro285Arg) rs764622267
NM_000153.4(GALC):c.-80_-75delATCAGC rs564526560
NM_000153.4(GALC):c.1158_1161+6del rs759068540
NM_000153.4(GALC):c.155del (p.Gly52fs) rs1064793131
NM_000153.4(GALC):c.169G>C (p.Gly57Arg) rs11623
NM_000153.4(GALC):c.196-4_196-3del rs561184126
NM_000153.4(GALC):c.41C>G (p.Ala14Gly) rs373587692
NM_000154.2(GALK1):c.853_874del (p.Ile285fs) rs770087254
NM_000155.4(GALT):c.292G>C (p.Asp98His) rs111033670
NM_000155.4(GALT):c.394C>T (p.His132Tyr) rs111033688
NM_000155.4(GALT):c.524G>A (p.Gly175Asp) rs111033718
NM_000155.4(GALT):c.957C>G (p.His319Gln) rs111033792
NM_000155.4(GALT):c.997C>T (p.Arg333Trp) rs111033800
NM_000157.4(GBA1):c.1138G>A (p.Ala380Thr) rs781306264
NM_000157.4(GBA1):c.1240G>C (p.Val414Leu) rs398123528
NM_000157.4(GBA1):c.1240G>T (p.Val414Leu) rs398123528
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) rs421016
NM_000157.4(GBA1):c.354G>C (p.Lys118Asn) rs121908312
NM_000157.4(GBA1):c.408_412del (p.Pro137fs) rs2148079453
NM_000157.4(GBA1):c.485T>C (p.Met162Thr) rs794727783
NM_000157.4(GBA1):c.635C>G (p.Ser212Ter) rs1671872221
NM_000157.4(GBA1):c.816A>C (p.Glu272Asp) rs2148075570
NM_000157.4(GBA1):c.827C>T (p.Ser276Phe) rs755512507
NM_000157.4(GBA1):c.970C>T (p.Arg324Cys) rs765633380
NM_000159.4(GCDH):c.203G>C (p.Arg68Thr) rs1417389111
NM_000159.4(GCDH):c.262C>A (p.Arg88Ser) rs142967670
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln) rs566417795
NM_000159.4(GCDH):c.675G>A (p.Trp225Ter) rs786205862
NM_000161.3(GCH1):c.626+1G>A rs1555358507
NM_000162.5(GCK):c.12_13del (p.Asp4fs) rs1483208659
NM_000162.5(GCK):c.1322C>G (p.Ser441Trp) rs1286804191
NM_000162.5(GCK):c.370G>C (p.Asp124His) rs759072800
NM_000162.5(GCK):c.852C>G (p.Pro284=) rs145323719
NM_000166.6(GJB1):c.238C>T (p.Gln80Ter) rs1602348981
NM_000166.6(GJB1):c.283G>A (p.Val95Met) rs104894821
NM_000169.3(GLA):c.1055C>G (p.Ala352Gly) rs869312162
NM_000169.3(GLA):c.1078G>C (p.Gly360Arg) rs782598150
NM_000169.3(GLA):c.1085C>T (p.Pro362Leu) rs730880441
NM_000169.3(GLA):c.1116_1117delinsAT (p.Gly373Cys) rs1928127475
NM_000169.3(GLA):c.1247A>C (p.Gln416Pro) rs398123200
NM_000169.3(GLA):c.127G>A (p.Gly43Ser) rs886044906
NM_000169.3(GLA):c.137A>G (p.His46Arg) rs398123203
NM_000169.3(GLA):c.139T>C (p.Trp47Arg)
NM_000169.3(GLA):c.1A>G (p.Met1Val) rs869312265
NM_000169.3(GLA):c.212A>G (p.Glu71Gly) rs781927744
NM_000169.3(GLA):c.239G>A (p.Gly80Asp) rs781838005
NM_000169.3(GLA):c.254G>A (p.Gly85Asp) rs1569304898
NM_000169.3(GLA):c.254G>T (p.Gly85Val) rs1569304898
NM_000169.3(GLA):c.369+5G>T rs398123209
NM_000169.3(GLA):c.394G>A (p.Gly132Arg) rs1555985855
NM_000169.3(GLA):c.525C>G (p.Asp175Glu) rs782722844
NM_000169.3(GLA):c.548G>A (p.Gly183Asp) rs398123212
NM_000169.3(GLA):c.613C>A (p.Pro205Thr) rs397515870
NM_000169.3(GLA):c.695T>C (p.Ile232Thr) rs797044749
NM_000169.3(GLA):c.704C>G (p.Ser235Cys) rs797044746
NM_000169.3(GLA):c.713G>A (p.Ser238Asn) rs730880450
NM_000169.3(GLA):c.758T>C (p.Ile253Thr) rs727505292
NM_000169.3(GLA):c.80del (p.Pro27fs) rs730880454
NM_000169.3(GLA):c.835C>G (p.Gln279Glu) rs28935485
NM_000169.3(GLA):c.842_844del (p.Val281_Thr282delinsAla) rs1555985004
NM_000169.3(GLA):c.865A>T (p.Ile289Phe) rs140329381
NM_000169.3(GLA):c.870G>A (p.Met290Ile) rs869312438
NM_000169.3(GLA):c.901C>G (p.Arg301Gly) rs398123224
NM_000169.3(GLA):c.983G>T (p.Gly328Val) rs28935492
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser) rs121964976
NM_000170.3(GLDC):c.2203-2A>G rs386833545
NM_000170.3(GLDC):c.2527C>T (p.Arg843Ter) rs1554643360
NM_000174.5(GP9):c.70T>C (p.Cys24Arg) rs28933378
NM_000175.5(GPI):c.1040G>A (p.Arg347His) rs137853583
NM_000179.3(MSH6):c.1045C>T (p.Gln349Ter) rs863224473
NM_000179.3(MSH6):c.1109T>C (p.Leu370Ser) rs587779204
NM_000179.3(MSH6):c.1115G>A (p.Trp372Ter) rs1114167731
NM_000179.3(MSH6):c.1168_1170delinsAA (p.Asp390fs) rs863225398
NM_000179.3(MSH6):c.1249_1252del (p.Lys417fs) rs2530599052
NM_000179.3(MSH6):c.136G>C (p.Gly46Arg) rs863224616
NM_000179.3(MSH6):c.1480G>T (p.Ala494Ser) rs758699749
NM_000179.3(MSH6):c.1483C>T (p.Arg495Ter) rs587779212
NM_000179.3(MSH6):c.1572_1573del (p.Tyr524_Ser525delinsTer) rs1114167702
NM_000179.3(MSH6):c.1721C>G (p.Ser574Ter) rs1669365820
NM_000179.3(MSH6):c.1729del (p.Arg577fs) rs2104363773
NM_000179.3(MSH6):c.1844G>T (p.Cys615Phe) rs730881793
NM_000179.3(MSH6):c.2050del (p.Ala683_Leu684insTer) rs1553413424
NM_000179.3(MSH6):c.2056_2060delinsCTTCTACCTCAAAAA (p.Gly686fs) rs878853711
NM_000179.3(MSH6):c.2295C>A (p.Cys765Ter) rs63750985
NM_000179.3(MSH6):c.2351_2352del (p.Asn784fs) rs1553413717
NM_000179.3(MSH6):c.2906A>G (p.Tyr969Cys) rs63749919
NM_000179.3(MSH6):c.3108_3109del (p.Phe1037fs) rs1553414519
NM_000179.3(MSH6):c.3226C>G (p.Arg1076Gly) rs63750617
NM_000179.3(MSH6):c.3227G>A (p.Arg1076His) rs779617676
NM_000179.3(MSH6):c.3268_3274del (p.Glu1090fs) rs587779259
NM_000179.3(MSH6):c.3416dup (p.Lys1140fs) rs587781544
NM_000179.3(MSH6):c.3510_3513dup (p.Arg1172Ter) rs2104507637
NM_000179.3(MSH6):c.3557-1G>T rs1114167723
NM_000179.3(MSH6):c.3619_3620del (p.His1207fs) rs1572741984
NM_000179.3(MSH6):c.3725G>A (p.Arg1242His) rs63750119
NM_000179.3(MSH6):c.3792dup (p.Gly1265fs) rs2530849360
NM_000179.3(MSH6):c.3818dup (p.Asn1273fs) rs1553333321
NM_000179.3(MSH6):c.3867_3870dup (p.Lys1291delinsHisTer) rs2530863027
NM_000179.3(MSH6):c.3897_3931dup (p.Glu1311fs) rs1064793895
NM_000179.3(MSH6):c.3956_3974del (p.Lys1319fs) rs1558394336
NM_000179.3(MSH6):c.4052A>G (p.His1351Arg) rs1325140069
NM_000179.3(MSH6):c.423del (p.Trp142fs) rs1114167728
NM_000179.3(MSH6):c.694C>T (p.Gln232Ter) rs587779318
NM_000179.3(MSH6):c.730C>T (p.Gln244Ter) rs267608066
NM_000179.3(MSH6):c.733A>T (p.Ile245Leu) rs762168786
NM_000179.3(MSH6):c.741dup (p.Arg248fs) rs267608041
NM_000179.3(MSH6):c.7C>T (p.Arg3Ter) rs1553408074
NM_000179.3(MSH6):c.837delinsTAGTGG (p.Gly283fs) rs2530573774
NM_000180.4(GUCY2D):c.238_252del (p.Ala80_Leu84del) rs952193754
NM_000181.4(GUSB):c.1192C>T (p.Arg398Cys) rs749520560
NM_000181.4(GUSB):c.1476_1476+13del rs1271928727
NM_000181.4(GUSB):c.1747G>A (p.Gly583Arg) rs757015172
NM_000188.3(HK1):c.2099del (p.Gln700fs)
NM_000190.4(HMBS):c.826-2A>T rs1946317952
NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000195.5(HPS1):c.972dup (p.Met325fs) rs281865082
NM_000195.5(HPS1):c.9C>A (p.Cys3Ter) rs750909242
NM_000197.2(HSD17B3):c.139A>G (p.Met47Val) rs191153391
NM_000198.4(HSD3B2):c.1000C>T (p.Gln334Ter) rs905880501
NM_000199.5(SGSH):c.1130G>A (p.Arg377His) rs746037899
NM_000199.5(SGSH):c.356-1G>A rs1555621984
NM_000199.5(SGSH):c.823G>A (p.Gly275Arg) rs765361603
NM_000202.8(IDS):c.104-2A>G rs2089505773
NM_000202.8(IDS):c.1334G>A (p.Arg445His) rs782371096
NM_000202.8(IDS):c.1439C>T (p.Pro480Leu) rs2123994251
NM_000202.8(IDS):c.1493G>C (p.Arg498Thr) rs1557337595
NM_000202.8(IDS):c.1494del (p.Arg498fs) rs2520754068
NM_000202.8(IDS):c.200T>C (p.Leu67Pro) rs2520901143
NM_000202.8(IDS):c.253G>A (p.Ala85Thr) rs113993949
NM_000202.8(IDS):c.2T>C (p.Met1Thr) rs2124069617
NM_000202.8(IDS):c.353C>T (p.Thr118Ile) rs2520895871
NM_000202.8(IDS):c.359C>T (p.Pro120Leu)
NM_000202.8(IDS):c.525T>A (p.Asp175Glu) rs2089452549
NM_000202.8(IDS):c.683C>T (p.Pro228Leu) rs113993945
NM_000202.8(IDS):c.685C>T (p.His229Tyr) rs2520862570
NM_000202.8(IDS):c.796C>T (p.Pro266Ser)
NM_000202.8(IDS):c.817C>T (p.Arg273Trp) rs1602740899
NM_000202.8(IDS):c.877C>T (p.Gln293Ter) rs2124041126
NM_000203.5(IDUA):c.164dup (p.Leu56fs) rs727503966
NM_000203.5(IDUA):c.1898C>G (p.Ser633Trp) rs886043347
NM_000203.5(IDUA):c.532G>A (p.Glu178Lys) rs992336192
NM_000206.3(IL2RG):c.670C>T (p.Arg224Trp) rs869320658
NM_000211.5(ITGB2):c.2200G>T (p.Glu734Ter) rs1464015799
NM_000214.3(JAG1):c.100C>T (p.Gln34Ter) rs1555830976
NM_000214.3(JAG1):c.3522G>A (p.Pro1174=) rs1413360004
NM_000215.4(JAK3):c.2743C>T (p.Gln915Ter) rs2147676896
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs) rs397508118
NM_000218.3(KCNQ1):c.915G>A (p.Trp305Ter) rs1488745091
NM_000226.4(KRT9):c.483T>A (p.Asn161Lys) rs57536312
NM_000228.3(LAMB3):c.622del (p.Ile208fs) rs768303931
NM_000231.3(SGCG):c.121CTT[1] (p.Leu44del) rs1349925286
NM_000231.3(SGCG):c.195+4_195+7del rs797045106
NM_000231.3(SGCG):c.205G>C (p.Gly69Arg) rs2541899936
NM_000231.3(SGCG):c.320C>T (p.Ser107Leu)
NM_000231.3(SGCG):c.386-2A>G rs886042757
NM_000231.3(SGCG):c.511G>T (p.Glu171Ter) rs1881865054
NM_000231.3(SGCG):c.579-2A>G rs754415994
NM_000231.3(SGCG):c.690T>A (p.Ser230Arg) rs875989949
NM_000232.5(SGCB):c.-10_16dup (p.Ala6fs) rs2475237449
NM_000232.5(SGCB):c.-10_22dup (p.Ala8fs) rs1553940963
NM_000232.5(SGCB):c.-12_8dup (p.Ala4fs) rs1207685911
NM_000232.5(SGCB):c.102del (p.Glu35fs) rs2109376007
NM_000232.5(SGCB):c.111C>T (p.Asn37=) rs2109376000
NM_000232.5(SGCB):c.272G>T (p.Arg91Leu) rs104893869
NM_000232.5(SGCB):c.278G>C (p.Gly93Ala) rs1018529334
NM_000232.5(SGCB):c.323T>G (p.Leu108Arg) rs104893870
NM_000232.5(SGCB):c.368A>C (p.Tyr123Ser) rs398123263
NM_000232.5(SGCB):c.391C>T (p.Arg131Ter) rs1013015106
NM_000232.5(SGCB):c.538T>C (p.Phe180Leu) rs536728645
NM_000232.5(SGCB):c.650del (p.Asn217fs) rs1553940079
NM_000232.5(SGCB):c.656_657del (p.Lys219fs) rs775458201
NM_000232.5(SGCB):c.699_702del (p.Phe233fs) rs1057516515
NM_000232.5(SGCB):c.82G>T (p.Glu28Ter) rs771814273
NM_000232.5(SGCB):c.87_89del (p.Arg30del) rs780654411
NM_000238.4(KCNH2):c.1418C>A (p.Thr473Asn) rs199472905
NM_000238.4(KCNH2):c.1882G>A (p.Gly628Ser) rs121912507
NM_000238.4(KCNH2):c.2320G>T (p.Asp774Tyr) rs199472995
NM_000238.4(KCNH2):c.2510A>G (p.Asp837Gly) rs199473004
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu) rs104895083
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del) rs104895093
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000245.4(MET):c.713T>C (p.Leu238Ser) rs34349517
NM_000246.4(CIITA):c.1962dup (p.Gly655fs) rs778982759
NM_000249.4(MLH1):c.1038G>A (p.Gln346=) rs63751715
NM_000249.4(MLH1):c.1348dup (p.Asp450fs) rs587778906
NM_000249.4(MLH1):c.1558+1dup rs1553653237
NM_000249.4(MLH1):c.1731G>A (p.Ser577=) rs63751657
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.4(MLH1):c.2080_2081inv (p.Glu694Ser)
NM_000249.4(MLH1):c.2246T>C (p.Leu749Pro) rs267607894
NM_000249.4(MLH1):c.326A>C (p.His109Pro) rs587779004
NM_000249.4(MLH1):c.381-1G>A rs267607744
NM_000249.4(MLH1):c.454-2_459dup
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter) rs63751615
NM_000249.4(MLH1):c.91_92delinsTG (p.Ala31Cys) rs63749994
NM_000250.2(MPO):c.1555_1568del (p.Met519fs) rs536522394
NM_000251.3(MSH2):c.1003del (p.Thr335fs) rs1673074932
NM_000251.3(MSH2):c.1276+1G>T rs267607950
NM_000251.3(MSH2):c.1276+2T>C rs267607953
NM_000251.3(MSH2):c.1566C>A (p.Tyr522Ter) rs63750224
NM_000251.3(MSH2):c.1759+1G>A rs587779108
NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter) rs63749932
NM_000251.3(MSH2):c.2062A>G (p.Met688Val) rs1573569964
NM_000251.3(MSH2):c.27G>A (p.Leu9=) rs1553348705
NM_000251.3(MSH2):c.326A>G (p.Asn109Ser) rs749545338
NM_000251.3(MSH2):c.347_350del (p.Asp116fs) rs63750501
NM_000251.3(MSH2):c.528_529del (p.Cys176_Glu177delinsTer) rs587779164
NM_000251.3(MSH2):c.753G>A (p.Glu251=) rs1553351682
NM_000251.3(MSH2):c.901A>T (p.Lys301Ter) rs63749915
NM_000251.3(MSH2):c.939del (p.Gln314fs) rs796532309
NM_000251.3(MSH2):c.998_999dup (p.Lys334fs) rs2104247018
NM_000252.3(MTM1):c.614C>T (p.Pro205Leu) rs587783841
NM_000255.4(MMUT):c.1956+2T>C rs750619189
NM_000255.4(MMUT):c.312del (p.Trp105fs) rs1064793768
NM_000255.4(MMUT):c.810_811delinsA (p.Ala271fs) rs1767682543
NM_000256.3(MYBPC3):c.1224-2A>G rs397515891
NM_000256.3(MYBPC3):c.1483C>G (p.Arg495Gly) rs397515905
NM_000256.3(MYBPC3):c.1591G>A (p.Gly531Arg) rs397515912
NM_000256.3(MYBPC3):c.3300C>A (p.Tyr1100Ter) rs863225113
NM_000257.4(MYH7):c.1750G>C (p.Gly584Arg) rs121913626
NM_000257.4(MYH7):c.1805A>G (p.Asn602Ser) rs730880880
NM_000257.4(MYH7):c.2419C>T (p.Arg807Cys) rs2138666871
NM_000257.4(MYH7):c.2467G>C (p.Gly823Arg) rs1566531657
NM_000257.4(MYH7):c.2782G>A (p.Asp928Asn) rs727503252
NM_000257.4(MYH7):c.4300C>T (p.Arg1434Cys) rs730880800
NM_000257.4(MYH7):c.4772T>C (p.Leu1591Pro) rs730880808
NM_000257.4(MYH7):c.4844AGA[2] (p.Lys1617del) rs121913648
NM_000257.4(MYH7):c.4985G>A (p.Arg1662His) rs370328209
NM_000257.4(MYH7):c.5378T>C (p.Leu1793Pro) rs121913654
NM_000260.4(MYO7A):c.1168C>T (p.Gln390Ter) rs1555067598
NM_000260.4(MYO7A):c.133_153dup
NM_000260.4(MYO7A):c.1355dup (p.Cys453fs) rs2496867841
NM_000260.4(MYO7A):c.1868G>A (p.Arg623His) rs111033416
NM_000260.4(MYO7A):c.1952_1953insAG (p.Cys652fs) rs111033510
NM_000260.4(MYO7A):c.4248C>A (p.Tyr1416Ter) rs760292207
NM_000260.4(MYO7A):c.4502_4503del (p.Val1501fs) rs1555099541
NM_000260.4(MYO7A):c.5177C>T (p.Pro1726Leu) rs1478464275
NM_000260.4(MYO7A):c.5749G>T (p.Glu1917Ter) rs780609120
NM_000260.4(MYO7A):c.5824G>A (p.Gly1942Arg) rs111033192
NM_000260.4(MYO7A):c.5880CTT[2] (p.Phe1963del) rs111033232
NM_000263.4(NAGLU):c.1675G>A (p.Asp559Asn) rs767510451
NM_000263.4(NAGLU):c.1744G>C (p.Ala582Pro) rs144238669
NM_000263.4(NAGLU):c.2045T>G (p.Leu682Arg) rs2092930339
NM_000263.4(NAGLU):c.2183AGA[1] (p.Lys729del) rs1216052074
NM_000264.5(PTCH1):c.2833C>T (p.Arg945Ter) rs1064794260
NM_000271.5(NPC1):c.1210C>T (p.Arg404Trp) rs1298238512
NM_000271.5(NPC1):c.1672G>A (p.Ala558Thr) rs201156397
NM_000271.5(NPC1):c.2531dup (p.Val845fs) rs2145378067
NM_000271.5(NPC1):c.2974G>A (p.Gly992Arg) rs80358254
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp) rs80358254
NM_000271.5(NPC1):c.3134T>C (p.Leu1045Pro) rs893564568
NM_000271.5(NPC1):c.3496G>T (p.Glu1166Ter) rs1567944248
NM_000271.5(NPC1):c.547G>A (p.Ala183Thr) rs111256741
NM_000271.5(NPC1):c.688_693del (p.Ser230_Val231del) rs758687942
NM_000274.4(OAT):c.772-1G>A rs770390524
NM_000275.3(OCA2):c.1922C>T (p.Ser641Leu) rs868238523
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del) rs767489236
NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal) rs797044784
NM_000275.3(OCA2):c.831T>A (p.Tyr277Ter) rs759876062
NM_000277.3(PAH):c.113TCT[1] (p.Phe39del) rs199475565
NM_000277.3(PAH):c.1199+1G>C rs62509015
NM_000277.3(PAH):c.125AAG[2] (p.Glu44del) rs199475628
NM_000277.3(PAH):c.168_168+1delinsAA rs786204457
NM_000277.3(PAH):c.169_171del rs199475665
NM_000277.3(PAH):c.441+6T>A rs199475698
NM_000277.3(PAH):c.527G>T (p.Arg176Leu) rs74486803
NM_000277.3(PAH):c.529G>A (p.Val177Met) rs199475602
NM_000277.3(PAH):c.592_613del (p.Tyr198fs) rs199475697
NM_000277.3(PAH):c.671T>C (p.Ile224Thr) rs62507323
NM_000277.3(PAH):c.805A>C (p.Ile269Leu) rs62508692
NM_000277.3(PAH):c.992T>G (p.Phe331Cys) rs199475614
NM_000278.5(PAX2):c.239C>T (p.Pro80Leu) rs1554856032
NM_000282.4(PCCA):c.1268dup (p.Leu424fs) rs2548123187
NM_000282.4(PCCA):c.183+2T>C rs1555342593
NM_000282.4(PCCA):c.284del (p.Asp95fs) rs775825345
NM_000282.4(PCCA):c.722del (p.Gly241fs) rs745571507
NM_000284.4(PDHA1):c.422G>A (p.Arg141Gln) rs794729213
NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser) rs1555933963
NM_000284.4(PDHA1):c.905G>A (p.Arg302His) rs1064794149
NM_000285.4(PEPD):c.418A>T (p.Lys140Ter) rs1170952773
NM_000287.4(PEX6):c.*438TAAA[1] rs144286892
NM_000287.4(PEX6):c.1947del (p.Ile650fs) rs267608227
NM_000291.4(PGK1):c.409G>T (p.Gly137Trp)
NM_000292.3(PHKA2):c.134G>A (p.Arg45Gln) rs1601781024
NM_000292.3(PHKA2):c.3645_3646dup (p.Thr1216fs) rs2147799052
NM_000293.3(PHKB):c.1969C>T (p.Gln657Ter) rs34667348
NM_000298.6(PKLR):c.1168G>A (p.Asp390Asn) rs147034239
NM_000298.6(PKLR):c.1174G>A (p.Ala392Thr) rs1403323591
NM_000298.6(PKLR):c.1219G>A (p.Glu407Lys) rs866472917
NM_000298.6(PKLR):c.1378G>A (p.Val460Met) rs752034960
NM_000298.6(PKLR):c.1501C>T (p.Gln501Ter)
NM_000298.6(PKLR):c.1552C>A (p.Arg518Ser) rs139002629
NM_000298.6(PKLR):c.1705C>T (p.Arg569Trp) rs1052176
NM_000298.6(PKLR):c.699A>G (p.Pro233=)
NM_000298.6(PKLR):c.993C>A (p.Asp331Glu) rs138476691
NM_000303.3(PMM2):c.703G>T (p.Glu235Ter) rs763091085
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg) rs80338708
NM_000303.3(PMM2):c.710C>T (p.Thr237Met) rs80338708
NM_000312.4(PROC):c.1212dup (p.Pro405fs) rs1333329860
NM_000312.4(PROC):c.355_372del (p.Ser119_Ser124del) rs1436671530
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000314.8(PTEN):c.530A>G (p.Tyr177Cys) rs1564837839
NM_000317.3(PTS):c.166G>A (p.Val56Met) rs104894277
NM_000317.3(PTS):c.166GTG[1] (p.Val57del) rs770387277
NM_000317.3(PTS):c.393del (p.Val132fs) rs780332520
NM_000317.3(PTS):c.73C>G (p.Arg25Gly) rs1167104933
NM_000321.3(RB1):c.452T>A (p.Leu151Gln) rs2138087581
NM_000324.3(RHAG):c.1153_1154del (p.Leu385fs)
NM_000334.4(SCN4A):c.1037-1G>A rs1909453191
NM_000334.4(SCN4A):c.1173del (p.Phe392fs) rs1235665641
NM_000334.4(SCN4A):c.2095G>A (p.Ala699Thr) rs1057518865
NM_000334.4(SCN4A):c.2411C>T (p.Ser804Phe) rs121908546
NM_000334.4(SCN4A):c.4222C>T (p.Arg1408Cys) rs118047588
NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His) rs121908545
NM_000334.4(SCN4A):c.4343G>T (p.Arg1448Leu) rs121908545
NM_000334.4(SCN4A):c.4352G>A (p.Arg1451His) rs748517635
NM_000334.4(SCN4A):c.4428G>A (p.Met1476Ile) rs121908559
NM_000334.4(SCN4A):c.483-5C>G rs191547933
NM_000334.4(SCN4A):c.483-5C>T rs191547933
NM_000334.4(SCN4A):c.5113T>A (p.Phe1705Ile) rs1064794243
NM_000334.4(SCN4A):c.644T>C (p.Ile215Thr) rs1555604867
NM_000335.5(SCN5A):c.1993G>T (p.Ala665Ser) rs756474485
NM_000335.5(SCN5A):c.3670G>A (p.Glu1224Lys) rs199473204
NM_000340.2(SLC2A2):c.469G>C (p.Gly157Arg) rs750836049
NM_000341.4(SLC3A1):c.891+4A>G rs2465902056
NM_000342.3(SLC4A1):c.2279G>A (p.Arg760Gln) rs121912755
NM_000342.3(SLC4A1):c.2608C>T (p.Arg870Trp) rs28931585
NM_000342.4(SLC4A1):c.1030C>T (p.Arg344Ter) rs750930293
NM_000342.4(SLC4A1):c.1174del (p.Tyr392fs)
NM_000342.4(SLC4A1):c.1242del (p.Phe414fs)
NM_000342.4(SLC4A1):c.1353_1380del (p.Phe451fs) rs2509966036
NM_000342.4(SLC4A1):c.1422del (p.Phe475fs) rs2509965970
NM_000342.4(SLC4A1):c.16-1G>A rs2509973964
NM_000342.4(SLC4A1):c.1626G>A (p.Lys542=) rs2144611947
NM_000342.4(SLC4A1):c.1801-2A>G rs2144607086
NM_000342.4(SLC4A1):c.184C>T (p.Gln62Ter) rs2509971425
NM_000342.4(SLC4A1):c.1890+1G>A rs1567830555
NM_000342.4(SLC4A1):c.1987ATG[1] (p.Met664del) rs2509962537
NM_000342.4(SLC4A1):c.202G>T (p.Glu68Ter) rs13306787
NM_000342.4(SLC4A1):c.2105dup (p.His703fs) rs2509961092
NM_000342.4(SLC4A1):c.2169G>A (p.Trp723Ter) rs2047358814
NM_000342.4(SLC4A1):c.2188C>T (p.Arg730Cys) rs770569237
NM_000342.4(SLC4A1):c.2214_2217del (p.Thr739fs) rs2509960878
NM_000342.4(SLC4A1):c.2278C>T (p.Arg760Trp) rs373916826
NM_000342.4(SLC4A1):c.2422C>T (p.Arg808Cys) rs1167814744
NM_000342.4(SLC4A1):c.2510C>T (p.Thr837Met) rs2047337144
NM_000342.4(SLC4A1):c.2655+2_2655+3del
NM_000342.4(SLC4A1):c.286C>T (p.Arg96Cys) rs538778224
NM_000342.4(SLC4A1):c.349+1G>A rs1567834739
NM_000342.4(SLC4A1):c.515del (p.Gly172fs) rs1598301457
NM_000342.4(SLC4A1):c.609+1G>A rs1362663440
NM_000342.4(SLC4A1):c.733G>A (p.Val245Met) rs148170067
NM_000342.4(SLC4A1):c.823C>A (p.His275Asn) rs142866653
NM_000342.4(SLC4A1):c.823del (p.His275fs) rs2509968342
NM_000346.4(SOX9):c.1099C>G (p.Pro367Ala) rs542727010
NM_000346.4(SOX9):c.455G>C (p.Arg152Pro) rs2143245214
NM_000346.4(SOX9):c.507C>G (p.His169Gln) rs2229989
NM_000350.3(ABCA4):c.1460G>A (p.Arg487Gln) rs145614671
NM_000350.3(ABCA4):c.1808A>T (p.Tyr603Phe) rs2101078386
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs) rs281865377
NM_000350.3(ABCA4):c.4924_4927del (p.Ser1642fs)
NM_000352.6(ABCC8):c.257T>C (p.Val86Ala) rs193929360
NM_000352.6(ABCC8):c.3545G>A (p.Arg1182Gln) rs193922400
NM_000352.6(ABCC8):c.4138_4140delinsCA (p.Thr1380fs) rs1953899672
NM_000352.6(ABCC8):c.4477del (p.Arg1493fs) rs1953791177
NM_000352.6(ABCC8):c.494C>A (p.Ser165Ter) rs758754046
NM_000352.6(ABCC8):c.563A>G (p.Asn188Ser) rs797045213
NM_000352.6(ABCC8):c.696G>A (p.Trp232Ter) rs2133679771
NM_000358.3(TGFBI):c.1504A>G (p.Met502Val) rs188677757
NM_000359.3(TGM1):c.2060G>A (p.Arg687His) rs2139018911
NM_000360.4(TH):c.1147G>A (p.Gly383Arg) rs370962049
NM_000360.4(TH):c.1228C>T (p.Arg410Trp) rs575326605
NM_000360.4(TH):c.51del (p.Val18fs) rs2495842783
NM_000360.4(TH):c.779del (p.Arg260fs) rs2495805751
NM_000360.4(TH):c.934C>T (p.Gln312Ter) rs1337159250
NM_000363.5(TNNI3):c.12-7del rs370714315
NM_000363.5(TNNI3):c.509G>A (p.Arg170Gln) rs727503503
NM_000363.5(TNNI3):c.529AAG[1] (p.Lys178del) rs397516351
NM_000365.6(TPI1):c.721T>C (p.Phe241Leu) rs121964847
NM_000368.5(TSC1):c.737+3A>G rs118203439
NM_000369.5(TSHR):c.1803T>A (p.Tyr601Ter) rs759300253
NM_000372.5(TYR):c.308G>T (p.Cys103Phe) rs1943252098
NM_000372.5(TYR):c.530T>A (p.Val177Asp) rs571810545
NM_000380.4(XPA):c.10del (p.Ala4fs) rs779161471
NM_000380.4(XPA):c.759dup (p.Asp254fs) rs777372873
NM_000383.4(AIRE):c.1233del (p.Ser412fs) rs2146383573
NM_000383.4(AIRE):c.199del (p.Leu66_Leu67insTer) rs2517876295
NM_000383.4(AIRE):c.510_522del (p.Glu171fs) rs940485051
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675
NM_000384.3(APOB):c.13028_13029del (p.Tyr4343fs) rs760832994
NM_000384.3(APOB):c.9115_9119del (p.Phe3039fs) rs1215189537
NM_000387.6(SLC25A20):c.82G>T (p.Gly28Cys) rs747335514
NM_000388.4(CASR):c.374T>C (p.Leu125Pro) rs104893708
NM_000391.4(TPP1):c.1497del (p.Gly501fs) rs1554901523
NM_000391.4(TPP1):c.509-1G>T rs56144125
NM_000391.4(TPP1):c.679T>C (p.Cys227Arg) rs1855595805
NM_000392.5(ABCC2):c.3741+1G>A rs34937870
NM_000393.5(COL5A2):c.3309G>A (p.Pro1103=) rs878853978
NM_000396.4(CTSK):c.568C>T (p.Gln190Ter) rs202040269
NM_000398.7(CYB5R3):c.182G>A (p.Arg61His) rs774242947
NM_000398.7(CYB5R3):c.763GAG[1] (p.Glu256del) rs121965017
NM_000399.5(EGR2):c.910GCC[7] (p.Ala309dup) rs753747037
NM_000402.4(G6PD):c.1172C>T (p.Ala391Val) rs137852345
NM_000402.4(G6PD):c.1246A>G (p.Lys416Glu) rs137852320
NM_000402.4(G6PD):c.1318G>T (p.Gly440Cys) rs137852323
NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro) rs137852337
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly) rs78478128
NM_000402.4(G6PD):c.298T>C (p.Tyr100His) rs137852349
NM_000404.4(GLB1):c.1038G>C (p.Lys346Asn) rs749980306
NM_000410.4(HFE):c.616+1G>A rs773443949
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr) rs137853097
NM_000424.4(KRT5):c.539CCT[1] (p.Ser181del) rs2498409143
NM_000426.4(LAMA2):c.-2C>A
NM_000426.4(LAMA2):c.1762del (p.Ala588fs) rs786205654
NM_000426.4(LAMA2):c.184G>T (p.Gly62Ter) rs398123368
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs) rs202247790
NM_000426.4(LAMA2):c.4222C>G (p.Arg1408Gly) rs780127363
NM_000426.4(LAMA2):c.61_62del (p.Gln21fs) rs1554312687
NM_000426.4(LAMA2):c.6617del (p.Phe2206fs) rs867012156
NM_000426.4(LAMA2):c.8244+3_8244+6del rs746678525
NM_000426.4(LAMA2):c.9340G>A (p.Val3114Ile) rs200796753
NM_000426.4(LAMA2):c.951_952insCT (p.Cys318fs) rs1554227092
NM_000430.4(PAFAH1B1):c.703_704del (p.Glu235fs) rs797045865
NM_000432.4(MYL2):c.119G>A (p.Arg40Lys) rs727503299
NM_000432.4(MYL2):c.484G>A (p.Gly162Arg) rs199474814
NM_000432.4(MYL2):c.51_61del (p.Phe18fs) rs754744244
NM_000433.4(NCF2):c.1A>T (p.Met1Leu) rs780810631
NM_000433.4(NCF2):c.298C>T (p.Gln100Ter) rs119103276
NM_000435.3(NOTCH3):c.3980_3983dup (p.Gly1329fs)
NM_000440.3(PDE6A):c.1955_1974dup (p.Ile659fs) rs773065850
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser) rs141252097
NM_000441.2(SLC26A4):c.1271G>A (p.Gly424Asp) rs1791675770
NM_000441.2(SLC26A4):c.1437+1G>A rs2129316961
NM_000441.2(SLC26A4):c.1437+2T>G rs397516418
NM_000441.2(SLC26A4):c.1991C>T (p.Ala664Val) rs2129318281
NM_000441.2(SLC26A4):c.2T>G (p.Met1Arg) rs111033302
NM_000441.2(SLC26A4):c.304G>A (p.Gly102Arg) rs1219724284
NM_000444.6(PHEX):c.1946G>A (p.Gly649Asp) rs2518674832
NM_000444.6(PHEX):c.591A>G (p.Gln197=) rs1556020818
NM_000448.3(RAG1):c.2564A>G (p.Asn855Ser) rs199474690
NM_000454.5(SOD1):c.425G>C (p.Gly142Ala) rs1568811489
NM_000455.5(STK11):c.1225C>T (p.Arg409Trp) rs368466538
NM_000455.5(STK11):c.1253G>C (p.Cys418Ser) rs878853986
NM_000458.4(HNF1B):c.1006C>G (p.His336Asp) rs138986885
NM_000458.4(HNF1B):c.544+3_544+6del rs2033925649
NM_000459.5(TEK):c.2743C>T (p.Arg915Cys) rs1825682922
NM_000460.4(THPO):c.13+1G>C rs2108623965
NM_000463.3(UGT1A1):c.686C>T (p.Pro229Leu) rs35350960
NM_000463.3(UGT1A1):c.80_93del (p.Ala27fs) rs775463336
NM_000465.4(BARD1):c.1314+1G>A rs753785671
NM_000465.4(BARD1):c.654G>A (p.Trp218Ter) rs1553622530
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000474.4(TWIST1):c.309C>G (p.Tyr103Ter) rs104894054
NM_000476.3(AK1):c.319C>T (p.Arg107Ter) rs104894102
NM_000478.6(ALPL):c.1417G>A (p.Gly473Ser) rs1644755212
NM_000478.6(ALPL):c.337ACCGCC[3] (p.113TA[3]) rs2148158314
NM_000478.6(ALPL):c.400_401delinsCA (p.Thr134His) rs786204530
NM_000478.6(ALPL):c.500C>T (p.Thr167Met) rs1408325840
NM_000478.6(ALPL):c.522del (p.Ser175fs) rs750174638
NM_000478.6(ALPL):c.874C>A (p.Pro292Thr) rs765458125
NM_000481.4(AMT):c.452_466del (p.Lys151_Leu155del) rs386833683
NM_000485.3(APRT):c.200G>A (p.Arg67Gln) rs762509151
NM_000486.6(AQP2):c.170A>C (p.Gln57Pro) rs28931580
NM_000487.6(ARSA):c.1114C>T (p.Arg372Trp) rs74315476
NM_000487.6(ARSA):c.1282_1283dup (p.Leu429fs) rs2518322313
NM_000487.6(ARSA):c.1289T>C (p.Leu430Pro) rs199476392
NM_000487.6(ARSA):c.418C>G (p.His140Asp) rs199476358
NM_000487.6(ARSA):c.739G>A (p.Gly247Arg) rs74315471
NM_000487.6(ARSA):c.842C>T (p.Thr281Ile) rs966673017
NM_000487.6(ARSA):c.937C>T (p.Arg313Ter) rs551472773
NM_000489.6(ATRX):c.1753G>T (p.Glu585Ter) rs886044898
NM_000489.6(ATRX):c.6149T>C (p.Ile2050Thr) rs122445110
NM_000489.6(ATRX):c.671C>T (p.Ala224Val) rs2520029962
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.-288G>C rs139688774
NM_000492.4(CFTR):c.1021T>C (p.Ser341Pro) rs397508144
NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu) rs74551128
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000492.4(CFTR):c.2909-15T>G rs397508455
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys) rs77834169
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.4(CFTR):c.929TCT[2] (p.Phe312del) rs121908768
NM_000494.4(COL17A1):c.1939+1G>C rs760697124
NM_000501.4(ELN):c.1515_1550del (p.501VGVAPG[1]) rs782225994
NM_000505.4(F12):c.577G>T (p.Glu193Ter) rs1763248340
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys) rs566453434
NM_000512.5(GALNS):c.107T>C (p.Leu36Pro) rs755832705
NM_000512.5(GALNS):c.1196A>G (p.Lys399Arg) rs1267791852
NM_000512.5(GALNS):c.1242+1G>C rs2142993764
NM_000512.5(GALNS):c.1502G>C (p.Cys501Ser) rs948490589
NM_000512.5(GALNS):c.177G>A (p.Leu59=) rs1967036891
NM_000512.5(GALNS):c.313A>G (p.Arg105Gly) rs2143005072
NM_000512.5(GALNS):c.320-1G>C rs1245504167
NM_000512.5(GALNS):c.454del (p.Pro151_Leu152insTer) rs1912290012
NM_000512.5(GALNS):c.491A>C (p.Asn164Thr) rs761725425
NM_000512.5(GALNS):c.566+3A>C
NM_000512.5(GALNS):c.675_676del (p.Phe227fs) rs2143001422
NM_000512.5(GALNS):c.871G>T (p.Ala291Ser) rs118204448
NM_000516.7(GNAS):c.691C>T (p.Arg231Cys) rs1601162438
NM_000517.6(HBA2):c.379G>A (p.Asp127Asn) rs33933481
NM_000518.4(HBB):c.266T>C (p.Leu89Pro) rs33940204
NM_000518.5(HBB):c.-138C>A rs33944208
NM_000518.5(HBB):c.110del (p.Pro37fs) rs267607297
NM_000518.5(HBB):c.289_290delinsGG (p.Leu97Gly) rs2494295133
NM_000518.5(HBB):c.294C>G (p.His98Gln) rs34515413
NM_000518.5(HBB):c.316-14T>G rs35703285
NM_000518.5(HBB):c.316-3C>A rs33913413
NM_000518.5(HBB):c.90C>T (p.Gly30=) rs35578002
NM_000520.6(HEXA):c.316C>T (p.Gln106Ter) rs773446161
NM_000520.6(HEXA):c.964G>T (p.Asp322Tyr) rs772180415
NM_000525.4(KCNJ11):c.405dup (p.Arg136fs) rs557160758
NM_000527.5(LDLR):c.-135C>G rs879254375
NM_000527.5(LDLR):c.-136C>T rs879254374
NM_000527.5(LDLR):c.1049G>C (p.Arg350Pro) rs875989914
NM_000527.5(LDLR):c.1118_1121dup (p.Tyr375fs) rs875989916
NM_000527.5(LDLR):c.1186G>A (p.Gly396Ser) rs879254820
NM_000527.5(LDLR):c.1187-2A>G rs879254823
NM_000527.5(LDLR):c.1216C>A (p.Arg406=) rs121908043
NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys) rs137943601
NM_000527.5(LDLR):c.1223A>T (p.Glu408Val) rs879254838
NM_000527.5(LDLR):c.1247G>T (p.Arg416Leu) rs773658037
NM_000527.5(LDLR):c.1252G>A (p.Glu418Lys) rs869320651
NM_000527.5(LDLR):c.1322T>C (p.Ile441Thr) rs879254862
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.5(LDLR):c.1567G>A (p.Val523Met) rs28942080
NM_000527.5(LDLR):c.1637G>T (p.Gly546Val) rs28942081
NM_000527.5(LDLR):c.1690A>G (p.Asn564Asp) rs397509365
NM_000527.5(LDLR):c.1706-2A>T rs878854027
NM_000527.5(LDLR):c.1727A>G (p.Tyr576Cys) rs879254999
NM_000527.5(LDLR):c.172G>T (p.Glu58Ter) rs879254423
NM_000527.5(LDLR):c.1745T>C (p.Leu582Pro) rs875989930
NM_000527.5(LDLR):c.1A>T (p.Met1Leu) rs879254382
NM_000527.5(LDLR):c.2092del (p.Cys698fs) rs879255135
NM_000527.5(LDLR):c.2140+1G>A rs145787161
NM_000527.5(LDLR):c.2311+1G>T rs879255175
NM_000527.5(LDLR):c.2389G>A (p.Val797Met) rs750518671
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del) rs875989944
NM_000527.5(LDLR):c.2416dup (p.Val806fs) rs773618064
NM_000527.5(LDLR):c.2475C>G (p.Asn825Lys) rs374045590
NM_000527.5(LDLR):c.2483A>G (p.Tyr828Cys) rs28942085
NM_000527.5(LDLR):c.2546C>A (p.Ser849Ter) rs377437226
NM_000527.5(LDLR):c.265T>C (p.Cys89Arg) rs879254455
NM_000527.5(LDLR):c.269A>G (p.Asp90Gly) rs771019366
NM_000527.5(LDLR):c.314-1G>A rs879254471
NM_000527.5(LDLR):c.324_325delinsTC (p.Cys109Arg) rs879254476
NM_000527.5(LDLR):c.352G>A (p.Asp118Asn) rs730882080
NM_000527.5(LDLR):c.420G>C (p.Glu140Asp) rs879254520
NM_000527.5(LDLR):c.427T>C (p.Cys143Arg) rs875989901
NM_000527.5(LDLR):c.460C>T (p.Gln154Ter) rs879254534
NM_000527.5(LDLR):c.501C>A (p.Cys167Ter) rs752596535
NM_000527.5(LDLR):c.519C>G (p.Cys173Trp) rs769318035
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg) rs557344672
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del) rs121908027
NM_000527.5(LDLR):c.68-2A>T rs879254396
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu) rs121908028
NM_000527.5(LDLR):c.691T>G (p.Cys231Gly) rs746091400
NM_000527.5(LDLR):c.818-1G>A rs879254688
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp) rs2228671
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg) rs140241383
NM_000527.5(LDLR):c.905del (p.Cys302fs) rs1057516130
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000528.4(MAN2B1):c.2402dup (p.Ser802fs) rs797044680
NM_000530.8(MPZ):c.331T>C (p.Ser111Pro) rs1553259664
NM_000531.6(OTC):c.1033T>C (p.Tyr345His) rs66469337
NM_000531.6(OTC):c.158T>C (p.Ile53Thr) rs66677059
NM_000531.6(OTC):c.614T>C (p.Met205Thr) rs2068501940
NM_000531.6(OTC):c.77G>A (p.Arg26Gln) rs68031618
NM_000531.6(OTC):c.803T>C (p.Met268Thr) rs72558449
NM_000531.6(OTC):c.931G>A (p.Val311Met) rs72558468
NM_000532.5(PCCB):c.1313C>A (p.Ala438Asp) rs2529974111
NM_000532.5(PCCB):c.655-2A>G rs1553778865
NM_000535.7(PMS2):c.164-1G>C rs763308607
NM_000535.7(PMS2):c.1A>T (p.Met1Leu) rs587779333
NM_000535.7(PMS2):c.251-2A>C rs587779340
NM_000535.7(PMS2):c.2T>A (p.Met1Lys) rs587780059
NM_000535.7(PMS2):c.705+2T>C rs1784783734
NM_000535.7(PMS2):c.7C>T (p.Arg3Ter) rs763939668
NM_000535.7(PMS2):c.803+1G>T rs1562669585
NM_000535.7(PMS2):c.904-2A>G rs587781339
NM_000535.7(PMS2):c.935T>C (p.Met312Thr) rs530021751
NM_000540.3(RYR1):c.10097G>T (p.Arg3366Leu) rs137932199
NM_000540.3(RYR1):c.1021G>A (p.Gly341Arg) rs121918592
NM_000540.3(RYR1):c.10229C>G (p.Pro3410Arg) rs769196275
NM_000540.3(RYR1):c.10564C>A (p.Leu3522Met) rs200144997
NM_000540.3(RYR1):c.10740G>A (p.Pro3580=) rs2514489025
NM_000540.3(RYR1):c.11325C>T (p.Ala3775=) rs1971892935
NM_000540.3(RYR1):c.11778+1G>T rs1555794209
NM_000540.3(RYR1):c.12063_12064dup (p.Met4022fs) rs1419938249
NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu) rs794728696
NM_000540.3(RYR1):c.12149C>A (p.Ser4050Tyr) rs193922844
NM_000540.3(RYR1):c.12319del (p.Ile4107fs) rs754572007
NM_000540.3(RYR1):c.12526_12527insGCCT (p.Tyr4176fs) rs2145831520
NM_000540.3(RYR1):c.13013_13032del (p.Ala4338fs) rs193922856
NM_000540.3(RYR1):c.130C>T (p.Arg44Cys) rs193922748
NM_000540.3(RYR1):c.13388C>T (p.Ala4463Val) rs1350916629
NM_000540.3(RYR1):c.13565C>T (p.Pro4522Leu) rs145167688
NM_000540.3(RYR1):c.13609_13631dup (p.Val4547fs) rs1599641280
NM_000540.3(RYR1):c.13690C>T (p.Arg4564Trp) rs753208767
NM_000540.3(RYR1):c.13703T>C (p.Leu4568Pro) rs118192131
NM_000540.3(RYR1):c.13909A>C (p.Thr4637Pro) rs118192166
NM_000540.3(RYR1):c.13913G>A (p.Gly4638Asp) rs118192135
NM_000540.3(RYR1):c.13919T>G (p.Met4640Arg) rs1568594068
NM_000540.3(RYR1):c.13952A>G (p.His4651Arg) rs118192139
NM_000540.3(RYR1):c.14559C>T (p.Thr4853=) rs570469685
NM_000540.3(RYR1):c.14581C>A (p.Arg4861Ser) rs118192181
NM_000540.3(RYR1):c.14582G>A (p.Arg4861His) rs63749869
NM_000540.3(RYR1):c.14659C>G (p.His4887Asp)
NM_000540.3(RYR1):c.14677C>T (p.Arg4893Trp) rs118192150
NM_000540.3(RYR1):c.14678G>A (p.Arg4893Gln) rs118192151
NM_000540.3(RYR1):c.14687G>A (p.Gly4896Glu) rs1599674197
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr) rs118192170
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del) rs1064794572
NM_000540.3(RYR1):c.14817C>G (p.Asp4939Glu) rs193922895
NM_000540.3(RYR1):c.15017G>A (p.Gly5006Asp) rs1555805797
NM_000540.3(RYR1):c.177del (p.Asp60fs) rs756326114
NM_000540.3(RYR1):c.2029C>T (p.Gln677Ter) rs878854365
NM_000540.3(RYR1):c.208C>T (p.Gln70Ter) rs1456276440
NM_000540.3(RYR1):c.2224G>A (p.Val742Met) rs1364240080
NM_000540.3(RYR1):c.2505del (p.Pro836fs) rs797045932
NM_000540.3(RYR1):c.2984G>A (p.Trp995Ter) rs1440262870
NM_000540.3(RYR1):c.2989C>T (p.Arg997Ter) rs758925580
NM_000540.3(RYR1):c.3494G>A (p.Gly1165Asp) rs559581937
NM_000540.3(RYR1):c.3800C>G (p.Pro1267Arg) rs150495044
NM_000540.3(RYR1):c.3801del (p.Cys1268fs) rs587784374
NM_000540.3(RYR1):c.3801dup (p.Cys1268fs) rs587784374
NM_000540.3(RYR1):c.3964_3982dup (p.Asp1328fs) rs1281542312
NM_000540.3(RYR1):c.46-4G>A rs201094741
NM_000540.3(RYR1):c.4875_4879dup (p.Val1627fs) rs758867047
NM_000540.3(RYR1):c.487C>T (p.Arg163Cys) rs118192161
NM_000540.3(RYR1):c.5628GGA[2] (p.Glu1878del) rs371047178
NM_000540.3(RYR1):c.6023T>C (p.Met2008Thr) rs199947661
NM_000540.3(RYR1):c.6488G>A (p.Arg2163His) rs118192163
NM_000540.3(RYR1):c.6806dup (p.Ser2270fs) rs886041380
NM_000540.3(RYR1):c.6823G>A (p.Val2275Met) rs756847750
NM_000540.3(RYR1):c.7048G>A (p.Ala2350Thr) rs193922802
NM_000540.3(RYR1):c.7111G>A (p.Glu2371Lys) rs1057518940
NM_000540.3(RYR1):c.7304G>A (p.Arg2435His) rs28933396
NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp) rs118192124
NM_000540.3(RYR1):c.7396C>T (p.Leu2466Phe) rs767343838
NM_000540.3(RYR1):c.7523G>A (p.Arg2508His) rs193922818
NM_000540.3(RYR1):c.8342_8343del (p.Ile2781fs) rs758580075
NM_000540.3(RYR1):c.8501C>G (p.Thr2834Arg) rs555470100
NM_000540.3(RYR1):c.8816+5_8816+6delinsAT rs2514371354
NM_000540.3(RYR1):c.8888T>C (p.Leu2963Pro) rs756870293
NM_000540.3(RYR1):c.9103G>C (p.Glu3035Gln) rs1053579438
NM_000540.3(RYR1):c.9149T>A (p.Val3050Asp) rs1157851269
NM_000540.3(RYR1):c.9215C>T (p.Ala3072Val) rs1970754416
NM_000540.3(RYR1):c.9310G>A (p.Glu3104Lys) rs193922832
NM_000540.3(RYR1):c.9336G>A (p.Leu3112=) rs2514406217
NM_000540.3(RYR1):c.958G>A (p.Glu320Lys) rs1568440962
NM_000540.3(RYR1):c.9885C>G (p.Ala3295=) rs776468955
NM_000540.3(RYR1):c.9905dup (p.Pro3303fs) rs749656679
NM_000540.3(RYR1):c.9983del (p.Gly3328fs) rs2145682923
NM_000543.5(SMPD1):c.872G>A (p.Arg291His) rs1803161
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg) rs202081954
NM_000545.8(HNF1A):c.872C>G (p.Pro291Arg) rs193922606
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys) rs587780073
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000548.5(TSC2):c.1864C>T (p.Arg622Trp) rs397514914
NM_000548.5(TSC2):c.2072G>A (p.Arg691His) rs370553131
NM_000548.5(TSC2):c.226C>T (p.His76Tyr) rs574779350
NM_000548.5(TSC2):c.2389A>G (p.Ile797Val) rs1240217406
NM_000548.5(TSC2):c.2405G>A (p.Ser802Asn) rs1015629239
NM_000548.5(TSC2):c.2597C>T (p.Ala866Val) rs1261601321
NM_000548.5(TSC2):c.2632C>T (p.Pro878Ser) rs397515077
NM_000548.5(TSC2):c.336+1G>T rs45517102
NM_000548.5(TSC2):c.3846_3855delinsG (p.Ser1282_Gly1285delinsArg) rs587778732
NM_000548.5(TSC2):c.412G>A (p.Glu138Lys) rs1173061992
NM_000548.5(TSC2):c.4672G>A (p.Glu1558Lys) rs45517360
NM_000548.5(TSC2):c.4733T>C (p.Leu1578Pro) rs45517367
NM_000548.5(TSC2):c.481+1G>A rs45488500
NM_000548.5(TSC2):c.4900C>T (p.Arg1634Cys) rs760457821
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del) rs137854218
NM_000548.5(TSC2):c.5269G>A (p.Glu1757Lys) rs1060500957
NM_000550.3(TYRP1):c.1057_1060del (p.Asn353fs) rs387906562
NM_000551.4(VHL):c.154G>A (p.Glu52Lys) rs373068386
NM_000551.4(VHL):c.1A>G (p.Met1Val) rs1060503557
NM_000552.5(VWF):c.4094T>C (p.Leu1365Pro) rs745569482
NM_000552.5(VWF):c.50dup (p.Leu17fs) rs751286556
NM_000552.5(VWF):c.7988G>C (p.Arg2663Pro) rs149834874
NM_000553.6(WRN):c.1165del (p.Arg389fs) rs878854131
NM_000553.6(WRN):c.3688-2A>G rs2130469632
NM_000637.5(GSR):c.94G>T (p.Glu32Ter) rs770133920
NM_000642.3(AGL):c.294-2A>T rs1057516868
NM_000642.3(AGL):c.3299del (p.Gly1100fs) rs2524757369
NM_000642.3(AGL):c.3362+2T>C rs2100804114
NM_000642.3(AGL):c.3589-1G>A rs1289339080
NM_000642.3(AGL):c.3911dup (p.Asn1304fs) rs745757264
NM_000642.3(AGL):c.4448del (p.Asn1483fs) rs2100876453
NM_000642.3(AGL):c.664+1G>A rs61811105
NM_000642.3(AGL):c.891dup (p.Leu298fs) rs775335476
NM_000702.4(ATP1A2):c.1127C>G (p.Thr376Arg) rs121918620
NM_000702.4(ATP1A2):c.1127C>T (p.Thr376Met) rs121918620
NM_000702.4(ATP1A2):c.970G>A (p.Gly324Ser) rs1570987954
NM_000709.4(BCKDHA):c.773_774delinsAA (p.Cys258Ter) rs2122143379
NM_000719.7(CACNA1C):c.3912+1G>A rs1247088024
NM_000733.4(CD3E):c.353-5C>A rs374456909
NM_000760.4(CSF3R):c.2245C>T (p.Gln749Ter) rs1650332196
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly) rs72551322
NM_000784.4(CYP27A1):c.24dup (p.Leu9fs) rs1163340926
NM_000784.4(CYP27A1):c.398G>A (p.Trp133Ter) rs1559391480
NM_000784.4(CYP27A1):c.526del (p.Asp176fs) rs765512351
NM_000784.4(CYP27A1):c.944_948del (p.Leu315fs) rs397515356
NM_000807.4(GABRA2):c.1003A>C (p.Asn335His) rs1560442716
NM_000807.4(GABRA2):c.862A>G (p.Thr288Ala) rs2475296530
NM_000937.5(POLR2A):c.83C>G (p.Pro28Arg) rs1388837601
NM_000965.5(RARB):c.1159C>T (p.Arg387Cys) rs397518483
NM_000969.5(RPL5):c.155_156dup (p.Val53Ter) rs2100677045
NM_000969.5(RPL5):c.3+1G>A rs2524440268
NM_000969.5(RPL5):c.715A>G (p.Met239Val) rs1336022942
NM_000975.5(RPL11):c.238GAA[1] (p.Glu81del) rs2523398326
NM_000977.4(RPL13):c.548G>A (p.Arg183His) rs1597676540
NM_001001548.3(CD36):c.1007-2A>G
NM_001001548.3(CD36):c.1240_1243dup (p.Trp415fs) rs757142781
NM_001001548.3(CD36):c.447_450dup (p.Asn151fs) rs780114238
NM_001001548.3(CD36):c.660_664del (p.Asn220fs) rs768699378
NM_001001548.3(CD36):c.660_669del (p.Asn220fs) rs778808650
NM_001001548.3(CD36):c.949dup (p.Ile317fs) rs70961716
NM_001005361.3(DNM2):c.1106G>A (p.Arg369Gln) rs121909089
NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp) rs121909091
NM_001005361.3(DNM2):c.1546-18A>C rs1426762153
NM_001005361.3(DNM2):c.1565G>A (p.Arg522His) rs587783595
NM_001005373.4(LRSAM1):c.1957dup (p.Gln653fs) rs775965001
NM_001008212.2(OPTN):c.1195G>T (p.Glu399Ter) rs1657737496
NM_001008212.2(OPTN):c.565G>T (p.Glu189Ter) rs1564360451
NM_001008212.2(OPTN):c.76dup (p.His26fs) rs753966040
NM_001009944.3(PKD1):c.9889G>A (p.Val3297Met) rs775497330
NM_001009996.3(DALRD3):c.1251C>A (p.Tyr417Ter) rs1163930676
NM_001010867.4(IBA57):c.346C>T (p.Gln116Ter) rs1339829600
NM_001011.4(RPS7):c.79C>A (p.Leu27Ile) rs758369264
NM_001012339.3(DNAJC21):c.647_666del (p.Arg216fs) rs1580526958
NM_001013703.4(EIF2AK4):c.4065+1G>T rs776140816
NM_001013838.3(CARMIL2):c.1554C>G (p.Asp518Glu) rs200219135
NM_001017980.4(VMA21):c.*6A>G rs878854355
NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys) rs199476315
NM_001018115.3(FANCD2):c.2487C>G (p.Tyr829Ter) rs1289665675
NM_001018115.3(FANCD2):c.99_102del (p.Lys33fs) rs1283566463
NM_001022.4(RPS19):c.184C>T (p.Arg62Trp) rs104894711
NM_001022.4(RPS19):c.301C>T (p.Arg101Cys) rs782627671
NM_001022.4(RPS19):c.412-2A>G rs2513688329
NM_001022.4(RPS19):c.416_423delinsGAAGCATTAG (p.Ala139fs) rs2513688334
NM_001022.4(RPS19):c.79A>T (p.Lys27Ter) rs2513667116
NM_001024630.4(RUNX2):c.436G>A (p.Gly146Arg) rs1428979499
NM_001029.5(RPS26):c.344T>C (p.Met115Thr) rs2540724191
NM_001029.5(RPS26):c.73_76del (p.Asn25fs) rs2136753850
NM_001029896.2(WDR45):c.746CCT[1] (p.Ser250del) rs1064793294
NM_001029896.2(WDR45):c.827+1G>T rs1557083958
NM_001029896.2(WDR45):c.966dup (p.Val323fs) rs797046105
NM_001031725.6(DDX59):c.1100T>G (p.Val367Gly) rs587777067
NM_001032221.6(STXBP1):c.1652G>A (p.Arg551His) rs796053374
NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu) rs796053353
NM_001032221.6(STXBP1):c.704G>A (p.Arg235Gln) rs794727970
NM_001032221.6(STXBP1):c.734A>G (p.His245Arg) rs587784453
NM_001034850.3(RETREG1):c.926C>G (p.Ser309Ter) rs137852739
NM_001035.3(RYR2):c.12608C>T (p.Ala4203Val) rs794728792
NM_001035.3(RYR2):c.12667_12669del (p.Lys4223del) rs794728838
NM_001040142.2(SCN2A):c.2654C>T (p.Thr885Ile) rs1699477928
NM_001040142.2(SCN2A):c.2774T>C (p.Met925Thr) rs1057518373
NM_001041.4(SI):c.853G>T (p.Glu285Ter) rs758259365
NM_001042432.2(CLN3):c.816_817del (p.Glu273fs) rs886041546
NM_001042475.3(CEP85L):c.173G>A (p.Ser58Asn) rs2115322699
NM_001042492.3(NF1):c.2325+3A>G rs1057517848
NM_001042492.3(NF1):c.2T>C (p.Met1Thr) rs886041346
NM_001042492.3(NF1):c.4110+1G>T rs1555617383
NM_001042492.3(NF1):c.4836-1G>A rs1057518326
NM_001042492.3(NF1):c.5030TCTATA[1] (p.Ile1679_Tyr1680del) rs1135402868
NM_001042492.3(NF1):c.5625TCT[1] (p.Leu1877del) rs1131691081
NM_001042492.3(NF1):c.7381CTT[2] (p.Leu2463del) rs786203184
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs) rs587780078
NM_001048174.2(MUTYH):c.13C>T (p.Arg5Ter) rs587780088
NM_001048174.2(MUTYH):c.168C>A (p.Tyr56Ter) rs1645371113
NM_001048174.2(MUTYH):c.228C>A (p.Tyr76Ter) rs121908380
NM_001048174.2(MUTYH):c.369_374dup (p.Trp124_Met125insIleTrp) rs876660190
NM_001069.3(TUBB2A):c.292G>A (p.Gly98Arg) rs1064795334
NM_001077365.2(POMT1):c.2097C>A (p.Tyr699Ter) rs138902646
NM_001077365.2(POMT1):c.979C>A (p.Pro327Thr) rs757984572
NM_001077415.3(CRELD1):c.566del (p.Gly189fs) rs1559337563
NM_001079802.2(FKTN):c.1337A>T (p.Asn446Ile) rs374912618
NM_001079802.2(FKTN):c.642dup (p.Asp215Ter) rs398123557
NM_001079802.2(FKTN):c.766C>T (p.Arg256Ter) rs377417974
NM_001079866.2(BCS1L):c.320+1G>T rs386833856
NM_001079866.2(BCS1L):c.399del (p.Glu133fs) rs751484879
NM_001079866.2(BCS1L):c.642G>A (p.Trp214Ter) rs754414954
NM_001080.3(ALDH5A1):c.1015-3C>G rs2127387935
NM_001080442.3(SLC38A8):c.1214+1G>C
NM_001080517.3(SETD5):c.1042C>T (p.Arg348Trp) rs1553621798
NM_001081.4(CUBN):c.2496dup (p.Pro833fs) rs1554816715
NM_001081.4(CUBN):c.5913_5916del (p.Thr1972fs) rs765301342
NM_001081550.2(THOC2):c.229C>T (p.Arg77Cys) rs1556302160
NM_001083116.3(PRF1):c.132C>A (p.Ala44=) rs181323749
NM_001083961.2(WDR62):c.3322C>T (p.Gln1108Ter) rs1193422410
NM_001083962.2(TCF4):c.1732C>T (p.Arg578Cys) rs2144406630
NM_001083962.2(TCF4):c.550-2A>G rs863224934
NM_001083962.2(TCF4):c.748C>T (p.Gln250Ter) rs727504175
NM_001083962.2(TCF4):c.990G>A (p.Ser330=) rs587784469
NM_001089.3(ABCA3):c.3600CTT[3] (p.Phe1203del) rs750862009
NM_001098511.3(KIF2A):c.959C>T (p.Thr320Ile) rs1554042050
NM_001100.4(ACTA1):c.1001C>T (p.Pro334Leu) rs1553255312
NM_001100.4(ACTA1):c.442G>A (p.Gly148Ser) rs398123563
NM_001100.4(ACTA1):c.738C>A (p.Asp246Glu) rs748592740
NM_001100.4(ACTA1):c.809G>A (p.Gly270Asp) rs1553255362
NM_001101.5(ACTB):c.617G>A (p.Arg206Gln) rs886039472
NM_001101362.3(KBTBD13):c.1241A>G (p.Tyr414Cys) rs2140545943
NM_001101362.3(KBTBD13):c.496G>C (p.Ala166Pro) rs777916743
NM_001101426.4(CRPPA):c.1105GTT[3] (p.Val372del) rs587777798
NM_001101426.4(CRPPA):c.184del (p.Val62fs) rs1048457038
NM_001101426.4(CRPPA):c.376C>T (p.Arg126Cys) rs1472549168
NM_001102564.3(IFT43):c.296-5661G>A rs150373788
NM_001102564.3(IFT43):c.296-5686_296-5685del rs750135817
NM_001110556.2(FLNA):c.310C>G (p.Leu104Val) rs2522771333
NM_001110556.2(FLNA):c.394G>A (p.Gly132Arg) rs1085307783
NM_001110556.2(FLNA):c.4420G>A (p.Asp1474Asn) rs782129236
NM_001110792.2(MECP2):c.1042C>G (p.Leu348Val) rs587783104
NM_001110792.2(MECP2):c.1143_1237del (p.His381fs) rs2148659692
NM_001110792.2(MECP2):c.1168G>T (p.Ala390Ser) rs587783106
NM_001110792.2(MECP2):c.1169C>G (p.Ala390Gly) rs201314910
NM_001110792.2(MECP2):c.1191_1236del (p.Leu398fs) rs267608329
NM_001110792.2(MECP2):c.144_147del (p.Glu49fs) rs267608426
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg) rs61748404
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001113378.2(FANCI):c.2737C>T (p.Gln913Ter) rs1359408831
NM_001122630.2(CDKN1C):c.504CCCGGC[4] (p.168AP[9]) rs878853629
NM_001122630.2(CDKN1C):c.567_590del (p.186_187AP[6]) rs878853637
NM_001122764.3(PPOX):c.1082dup (p.Gly362fs) rs766602053
NM_001122764.3(PPOX):c.1281G>A (p.Trp427Ter) rs1057518798
NM_001122769.3(LCA5):c.1062C>A (p.Tyr354Ter) rs183261547
NM_001123385.2(BCOR):c.989C>T (p.Ala330Val) rs2520063904
NM_001126108.2(SLC12A3):c.2368+2del rs2543531562
NM_001126108.2(SLC12A3):c.2659C>T (p.Arg887Ter) rs747383768
NM_001126108.2(SLC12A3):c.329del (p.Ser110fs) rs1294865855
NM_001126108.2(SLC12A3):c.852+1G>A rs2055084531
NM_001126108.2(SLC12A3):c.947G>C (p.Gly316Ala) rs748920885
NM_001127217.3(SMAD9):c.137_140del (p.Lys46fs) rs781661592
NM_001127222.2(CACNA1A):c.2039_2040del (p.Gln680fs) rs1064794262
NM_001127222.2(CACNA1A):c.3410C>G (p.Pro1137Arg) rs200333359
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met) rs794727411
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln) rs121908247
NM_001127222.2(CACNA1A):c.6466C>G (p.Arg2156Gly) rs554393704
NM_001127222.2(CACNA1A):c.6466C>T (p.Arg2156Cys) rs554393704
NM_001127222.2(CACNA1A):c.6630CCA[10] (p.His2219dup) rs759331923
NM_001127222.2(CACNA1A):c.6680G>A (p.Arg2227His) rs1064793075
NM_001127453.2(GSDME):c.212-1G>A rs1790597003
NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys) rs727503940
NM_001127671.2(LIFR):c.1469C>G (p.Ser490Ter) rs2112457636
NM_001127671.2(LIFR):c.254del (p.Asn85fs) rs886041545
NM_001128840.3(CACNA1D):c.2919-6C>T rs2473926499
NM_001128840.3(CACNA1D):c.3789G>T (p.Gly1263=) rs775882768
NM_001128840.3(CACNA1D):c.5814G>T (p.Pro1938=) rs776968811
NM_001129820.2(SLFN14):c.652A>G (p.Lys218Glu) rs869320716
NM_001130144.3(LTBP3):c.2058C>A (p.Asn686Lys) rs376337792
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[1] (p.2300DQL[1]) rs587784440
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3]) rs587784440
NM_001130987.2(DYSF):c.1033+4A>T rs1397221551
NM_001130987.2(DYSF):c.1116C>G (p.Ser372Arg) rs766891289
NM_001130987.2(DYSF):c.1536_1539del (p.Ser513fs) rs774402454
NM_001130987.2(DYSF):c.1722_1723insGTT (p.Leu574_Leu575insVal) rs1446214240
NM_001130987.2(DYSF):c.1799G>T (p.Arg600Leu) rs546679270
NM_001130987.2(DYSF):c.209T>G (p.Val70Gly) rs886042878
NM_001130987.2(DYSF):c.2344G>T (p.Glu782Ter) rs886043901
NM_001130987.2(DYSF):c.2426C>G (p.Pro809Arg) rs121908956
NM_001130987.2(DYSF):c.2844G>C (p.Trp948Cys) rs727503910
NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys) rs756328339
NM_001130987.2(DYSF):c.3859dup (p.Glu1287fs) rs779407815
NM_001130987.2(DYSF):c.4111TCC[1] (p.Ser1372del) rs398123785
NM_001130987.2(DYSF):c.4911G>T (p.Lys1637Asn) rs141704244
NM_001130987.2(DYSF):c.4983G>T (p.Thr1661=) rs142301132
NM_001130987.2(DYSF):c.5174+5G>A rs745891180
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp) rs863225021
NM_001130987.2(DYSF):c.5763del (p.Val1922fs) rs1553416197
NM_001130987.2(DYSF):c.605C>T (p.Ala202Val) rs34999029
NM_001130987.2(DYSF):c.6333del (p.Ala2111_Met2112insTer) rs886043884
NM_001130987.2(DYSF):c.757C>T (p.Gln253Ter) rs886044381
NM_001130987.2(DYSF):c.991G>T (p.Gly331Trp) rs121908963
NM_001134407.3(GRIN2A):c.1777+6G>T rs76549675
NM_001134407.3(GRIN2A):c.2494C>T (p.Leu832Phe) rs145495027
NM_001134831.2(AHI1):c.1328T>A (p.Val443Asp) rs121434350
NM_001134831.2(AHI1):c.3059dup (p.Asn1020fs) rs1463748841
NM_001136472.2(LITAF):c.331G>A (p.Ala111Thr) rs1324125372
NM_001142800.2(EYS):c.1211dup (p.Asn404fs) rs764163418
NM_001142800.2(EYS):c.1479C>A (p.Cys493Ter) rs774464019
NM_001142800.2(EYS):c.525_527del (p.Glu176del) rs780433094
NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs) rs528919874
NM_001142800.2(EYS):c.9286_9295del (p.Val3096fs) rs770748359
NM_001142864.4(PIEZO1):c.1049C>T (p.Ala350Val) rs752246983
NM_001142864.4(PIEZO1):c.1361G>A (p.Trp454Ter) rs2507916894
NM_001142864.4(PIEZO1):c.1381C>T (p.Gln461Ter) rs776709730
NM_001142864.4(PIEZO1):c.1534C>T (p.Pro512Ser) rs763516197
NM_001142864.4(PIEZO1):c.1708G>A (p.Glu570Lys)
NM_001142864.4(PIEZO1):c.1792G>A (p.Val598Met) rs2142820621
NM_001142864.4(PIEZO1):c.1930G>A (p.Val644Ile) rs1314158150
NM_001142864.4(PIEZO1):c.2165C>T (p.Pro722Leu) rs1223247493
NM_001142864.4(PIEZO1):c.2315C>T (p.Thr772Met) rs561264067
NM_001142864.4(PIEZO1):c.2488-66CCCAAGCCCAGCCCCACGTGCCCACTGCCCTC[3] rs747907132
NM_001142864.4(PIEZO1):c.2697G>T (p.Thr899=) rs973943297
NM_001142864.4(PIEZO1):c.2731G>A (p.Val911Met) rs554899632
NM_001142864.4(PIEZO1):c.2779G>T (p.Gly927Cys)
NM_001142864.4(PIEZO1):c.2875G>C (p.Ala959Pro)
NM_001142864.4(PIEZO1):c.2923C>G (p.Leu975Val) rs750362416
NM_001142864.4(PIEZO1):c.2941G>A (p.Gly981Ser) rs529542524
NM_001142864.4(PIEZO1):c.2982C>G (p.Phe994Leu) rs374262841
NM_001142864.4(PIEZO1):c.3218G>A (p.Arg1073Gln) rs1030312028
NM_001142864.4(PIEZO1):c.3400C>A (p.Arg1134Ser) rs775384549
NM_001142864.4(PIEZO1):c.3490C>T (p.Arg1164Ter)
NM_001142864.4(PIEZO1):c.3598G>A (p.Gly1200Ser)
NM_001142864.4(PIEZO1):c.3625C>T (p.Arg1209Trp) rs750479923
NM_001142864.4(PIEZO1):c.3671C>T (p.Thr1224Ile)
NM_001142864.4(PIEZO1):c.3867C>A (p.Ser1289Arg)
NM_001142864.4(PIEZO1):c.3988G>A (p.Ala1330Thr) rs866681472
NM_001142864.4(PIEZO1):c.4066C>T (p.Arg1356Cys) rs374018271
NM_001142864.4(PIEZO1):c.4379GGC[1] (p.Arg1461_Arg1462del) rs759270131
NM_001142864.4(PIEZO1):c.4623C>A (p.Asp1541Glu) rs748928863
NM_001142864.4(PIEZO1):c.463C>T (p.Leu155=) rs192176652
NM_001142864.4(PIEZO1):c.4720G>A (p.Glu1574Lys) rs773645030
NM_001142864.4(PIEZO1):c.5134G>A (p.Val1712Met) rs760732001
NM_001142864.4(PIEZO1):c.5289C>G (p.Tyr1763Ter) rs72811487
NM_001142864.4(PIEZO1):c.5393C>T (p.Ser1798Phe) rs764374591
NM_001142864.4(PIEZO1):c.5482G>A (p.Glu1828Lys) rs532921066
NM_001142864.4(PIEZO1):c.5627G>T (p.Arg1876Met) rs201967733
NM_001142864.4(PIEZO1):c.5720C>T (p.Thr1907Met) rs778144394
NM_001142864.4(PIEZO1):c.6019A>C (p.Met2007Leu) rs1441826695
NM_001142864.4(PIEZO1):c.608T>C (p.Leu203Pro)
NM_001142864.4(PIEZO1):c.6107C>T (p.Ala2036Val) rs764365348
NM_001142864.4(PIEZO1):c.6328C>T (p.Arg2110Trp) rs776531529
NM_001142864.4(PIEZO1):c.6576_6590del (p.Phe2193_Val2197del) rs2507828594
NM_001142864.4(PIEZO1):c.6708G>A (p.Thr2236=)
NM_001142864.4(PIEZO1):c.6796G>A (p.Val2266Ile) rs546338962
NM_001142864.4(PIEZO1):c.7219G>A (p.Glu2407Lys) rs200291894
NM_001142864.4(PIEZO1):c.7219G>C (p.Glu2407Gln) rs200291894
NM_001142864.4(PIEZO1):c.7234C>T (p.Arg2412Trp) rs577922766
NM_001142864.4(PIEZO1):c.7333G>A (p.Val2445Met) rs146432823
NM_001142864.4(PIEZO1):c.7463G>A (p.Arg2488Gln) rs749288233
NM_001142864.4(PIEZO1):c.769G>A (p.Ala257Thr) rs751840512
NM_001142966.3(GREB1L):c.203G>T (p.Arg68Leu) rs370589003
NM_001145358.2(SIN3A):c.2803C>T (p.Arg935Ter) rs2141424841
NM_001145358.2(SIN3A):c.3653C>G (p.Thr1218Ser) rs2542982542
NM_001148.6(ANK2):c.9991T>C (p.Ser3331Pro) rs1168752344
NM_001159699.2(FHL1):c.239C>A (p.Thr80Asn) rs746834335
NM_001159699.2(FHL1):c.414G>C (p.Trp138Cys) rs1556639109
NM_001161352.2(KCNMA1):c.15_16insAGC (p.Gly5_Gly6insSer) rs780558929
NM_001161748.2(LIM2):c.388C>T (p.Arg130Cys) rs1568480054
NM_001163809.2(WDR81):c.3854C>T (p.Pro1285Leu) rs199995527
NM_001164508.2(NEB):c.13276G>A (p.Asp4426Asn) rs876657540
NM_001164508.2(NEB):c.154CTGGCACAGCCAGCA[3] (p.52LAQPA[3]) rs377452683
NM_001164508.2(NEB):c.17681T>C (p.Leu5894Pro) rs201072996
NM_001164508.2(NEB):c.18692C>T (p.Ala6231Val) rs375357016
NM_001164508.2(NEB):c.2211+5G>A rs797045736
NM_001164508.2(NEB):c.23967_23970del (p.Pro7990fs) rs756384471
NM_001164508.2(NEB):c.3987+1G>A rs780022652
NM_001164508.2(NEB):c.426T>A (p.Asp142Glu) rs200590080
NM_001164508.2(NEB):c.5698_5703del (p.Tyr1900_Asn1901del) rs775531807
NM_001164508.2(NEB):c.8598C>G (p.Asp2866Glu) rs1553966356
NM_001165963.4(SCN1A):c.1204T>C (p.Phe402Leu) rs796053094
NM_001165963.4(SCN1A):c.1261G>A (p.Val421Met) rs781507889
NM_001165963.4(SCN1A):c.2839G>A (p.Val947Met) rs796052986
NM_001165963.4(SCN1A):c.3429G>A (p.Glu1143=) rs796052994
NM_001165963.4(SCN1A):c.4036T>C (p.Ser1346Pro) rs1553525337
NM_001165963.4(SCN1A):c.4477-3T>C rs1690013843
NM_001165963.4(SCN1A):c.4548del (p.Lys1518fs) rs796053081
NM_001165963.4(SCN1A):c.4783_4784del (p.Leu1595fs) rs1689682880
NM_001165963.4(SCN1A):c.5218G>A (p.Asp1740Asn) rs796053035
NM_001165963.4(SCN1A):c.5563C>T (p.Pro1855Ser) rs794727415
NM_001165963.4(SCN1A):c.580G>A (p.Asp194Asn) rs121917935
NM_001165963.4(SCN1A):c.707T>C (p.Ile236Thr) rs886039464
NM_001165963.4(SCN1A):c.748G>A (p.Val250Ile) rs796052962
NM_001171038.2(ASMT):c.51C>A (p.Asn17Lys) rs17149149
NM_001172509.2(SATB2):c.1196G>C (p.Arg399Pro) rs1057518190
NM_001172509.2(SATB2):c.803A>G (p.Asn268Ser) rs375141410
NM_001173467.3(SP7):c.946C>T (p.Arg316Cys) rs1565789682
NM_001177316.2(SLC34A3):c.1561dup (p.Leu521fs) rs765816079
NM_001182.5(ALDH7A1):c.1171G>T (p.Glu391Ter) rs1750104210
NM_001182.5(ALDH7A1):c.1597del (p.Ala533fs) rs387906574
NM_001182.5(ALDH7A1):c.187G>T (p.Gly63Ter) rs760636660
NM_001182.5(ALDH7A1):c.901_902del (p.Asn301fs) rs1064794240
NM_001182.5(ALDH7A1):c.902A>T (p.Asn301Ile) rs121912711
NM_001184.4(ATR):c.1491_1492insAA (p.Gln498fs) rs1417190717
NM_001190417.2(ZNF674):c.975_976del (p.His325_Ile326insTer) rs778073001
NM_001193369.2(DIDO1):c.468C>T (p.Ser156=) rs765566169
NM_001195263.2(PDZD7):c.2796_2798del (p.Arg933del) rs770336804
NM_001195518.2(MICU1):c.40del (p.Ala14fs) rs749124658
NM_001195553.2(DCX):c.667G>A (p.Gly223Arg) rs587783577
NM_001197104.2(KMT2A):c.1660C>T (p.Gln554Ter) rs1949967549
NM_001197104.2(KMT2A):c.3301C>T (p.Arg1101Ter) rs886041856
NM_001198800.3(ASCC1):c.157dup (p.Glu53fs) rs753324947
NM_001199198.3(TBC1D23):c.614_615del (p.Phe205fs) rs2148861371
NM_001199397.3(NEK1):c.1334A>G (p.His445Arg) rs574204412
NM_001199563.2(POPDC1):c.602C>T (p.Ser201Phe) rs869025337
NM_001204.7(BMPR2):c.2617C>T (p.Arg873Ter) rs137852748
NM_001205254.2(OCLN):c.173_194del (p.Trp58fs) rs797045841
NM_001206744.2(TPO):c.1039G>T (p.Glu347Ter) rs867643439
NM_001243279.3(ACSF3):c.1367-23_1396del rs1567745645
NM_001243279.3(ACSF3):c.891C>A (p.Tyr297Ter) rs2151444797
NM_001244008.2(KIF1A):c.38G>A (p.Arg13His) rs797045050
NM_001244008.2(KIF1A):c.647G>A (p.Arg216His) rs672601368
NM_001244008.2(KIF1A):c.739G>A (p.Val247Met) rs2538278006
NM_001244710.2(GFPT1):c.*22C>A rs199678034
NM_001256317.3(TMPRSS3):c.323-6G>A rs374793617
NM_001257096.2(PAX1):c.158C>A (p.Ser53Ter) rs754338004
NM_001258392.3(CLPB):c.1610A>G (p.Tyr537Cys) rs150857620
NM_001267550.2(TTN):c.100397G>A (p.Arg33466His) rs189626540
NM_001267550.2(TTN):c.100825C>T (p.Arg33609Ter) rs1057518195
NM_001267550.2(TTN):c.101291C>T (p.Ala33764Val) rs773542514
NM_001267550.2(TTN):c.102813A>G (p.Val34271=) rs878983012
NM_001267550.2(TTN):c.10285_10288dup (p.Asn3430fs) rs2088191243
NM_001267550.2(TTN):c.103360del (p.Glu34454fs) rs760768093
NM_001267550.2(TTN):c.103659AGA[2] (p.Glu34555del) rs759860918
NM_001267550.2(TTN):c.103958G>A (p.Arg34653His) rs72629786
NM_001267550.2(TTN):c.103992_103993inv (p.Leu34665Val)
NM_001267550.2(TTN):c.105406C>T (p.Arg35136Trp) rs372875128
NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del) rs573843615
NM_001267550.2(TTN):c.105790G>A (p.Val35264Ile) rs770730954
NM_001267550.2(TTN):c.106133C>G (p.Ala35378Gly) rs555476312
NM_001267550.2(TTN):c.106133C>T (p.Ala35378Val) rs555476312
NM_001267550.2(TTN):c.106238C>G (p.Pro35413Arg) rs1688567795
NM_001267550.2(TTN):c.106259_106271del (p.Pro35420fs) rs2468365185
NM_001267550.2(TTN):c.106375-2A>G rs1553482872
NM_001267550.2(TTN):c.106531+1G>A rs760915007
NM_001267550.2(TTN):c.107377+1G>C rs112188483
NM_001267550.2(TTN):c.107387A>C (p.Glu35796Ala) rs1553478042
NM_001267550.2(TTN):c.107833T>A (p.Phe35945Ile) rs1575169924
NM_001267550.2(TTN):c.15553G>A (p.Val5185Ile) rs370535651
NM_001267550.2(TTN):c.177C>A (p.Ser59Arg) rs191057824
NM_001267550.2(TTN):c.19101G>T (p.Lys6367Asn) rs769617600
NM_001267550.2(TTN):c.20999A>G (p.Asn7000Ser) rs764035021
NM_001267550.2(TTN):c.22653T>A (p.Asp7551Glu) rs371736246
NM_001267550.2(TTN):c.2283_2288del (p.Lys762_Ala763del) rs727503701
NM_001267550.2(TTN):c.23147G>A (p.Gly7716Asp) rs751284978
NM_001267550.2(TTN):c.23538C>T (p.Phe7846=) rs149523263
NM_001267550.2(TTN):c.2396C>T (p.Thr799Met) rs149061352
NM_001267550.2(TTN):c.2423G>A (p.Arg808His) rs1423076539
NM_001267550.2(TTN):c.25476T>C (p.Asp8492=) rs777349143
NM_001267550.2(TTN):c.25970del (p.Gly8657fs) rs2154297689
NM_001267550.2(TTN):c.2744G>A (p.Arg915His) rs376922544
NM_001267550.2(TTN):c.27800T>C (p.Val9267Ala) rs755143548
NM_001267550.2(TTN):c.29144C>T (p.Ala9715Val) rs533172128
NM_001267550.2(TTN):c.3002T>G (p.Met1001Arg) rs148269839
NM_001267550.2(TTN):c.31660G>A (p.Glu10554Lys) rs1352006092
NM_001267550.2(TTN):c.3241G>T (p.Ala1081Ser) rs55914517
NM_001267550.2(TTN):c.32954G>A (p.Arg10985Gln) rs181395238
NM_001267550.2(TTN):c.33206C>T (p.Pro11069Leu) rs1577342347
NM_001267550.2(TTN):c.33249G>T (p.Val11083=) rs773979636
NM_001267550.2(TTN):c.33501AGA[4] (p.Glu11172del) rs368327166
NM_001267550.2(TTN):c.34098GGAAGAGGAAGTTCTACCTGA[1] (p.11363VLPEEEE[3]) rs397517548
NM_001267550.2(TTN):c.34660GAA[1] (p.Glu11555del) rs763098227
NM_001267550.2(TTN):c.37421T>C (p.Ile12474Thr) rs72650057
NM_001267550.2(TTN):c.3742_3745del (p.Ser1248fs) rs2154347788
NM_001267550.2(TTN):c.38442dup (p.Pro12815fs) rs752101551
NM_001267550.2(TTN):c.38660del (p.Lys12887fs) rs761617432
NM_001267550.2(TTN):c.40508T>G (p.Leu13503Ter) rs974323028
NM_001267550.2(TTN):c.40576GAA[3] (p.Glu13529del) rs727504199
NM_001267550.2(TTN):c.4289C>A (p.Ala1430Glu) rs577298130
NM_001267550.2(TTN):c.42950G>C (p.Arg14317Pro) rs727505144
NM_001267550.2(TTN):c.43502C>G (p.Thr14501Ser) rs115825044
NM_001267550.2(TTN):c.43717A>T (p.Met14573Leu) rs755610701
NM_001267550.2(TTN):c.44210G>A (p.Arg14737His) rs373298007
NM_001267550.2(TTN):c.44210G>T (p.Arg14737Leu) rs373298007
NM_001267550.2(TTN):c.44323G>C (p.Val14775Leu) rs540115992
NM_001267550.2(TTN):c.44375T>A (p.Ile14792Asn) rs747654057
NM_001267550.2(TTN):c.44812G>A (p.Val14938Met) rs367560855
NM_001267550.2(TTN):c.45053C>A (p.Ala15018Glu) rs72677221
NM_001267550.2(TTN):c.45839C>T (p.Ser15280Phe) rs763279178
NM_001267550.2(TTN):c.46155C>A (p.Leu15385=) rs1394331445
NM_001267550.2(TTN):c.46236C>A (p.Cys15412Ter) rs368200299
NM_001267550.2(TTN):c.48378_48380del (p.Leu16126del) rs561618839
NM_001267550.2(TTN):c.48916A>C (p.Thr16306Pro)
NM_001267550.2(TTN):c.50618G>A (p.Trp16873Ter) rs397517601
NM_001267550.2(TTN):c.51437-1G>C rs2055916646
NM_001267550.2(TTN):c.53150G>A (p.Arg17717His) rs757018821
NM_001267550.2(TTN):c.53653G>T (p.Glu17885Ter) rs727503607
NM_001267550.2(TTN):c.54037G>T (p.Ala18013Ser) rs531242797
NM_001267550.2(TTN):c.54539A>G (p.Lys18180Arg) rs1283224972
NM_001267550.2(TTN):c.55303-1G>A rs748369265
NM_001267550.2(TTN):c.55616T>C (p.Val18539Ala) rs573082979
NM_001267550.2(TTN):c.55738C>T (p.Pro18580Ser) rs528329600
NM_001267550.2(TTN):c.5577G>A (p.Arg1859=) rs551538420
NM_001267550.2(TTN):c.56685C>T (p.Ser18895=) rs375403059
NM_001267550.2(TTN):c.57478G>A (p.Val19160Ile) rs200778464
NM_001267550.2(TTN):c.587AAG[2] (p.Glu198del) rs771898264
NM_001267550.2(TTN):c.59147T>C (p.Ile19716Thr) rs763636451
NM_001267550.2(TTN):c.59442A>G (p.Pro19814=) rs1304742332
NM_001267550.2(TTN):c.60007C>G (p.Arg20003Gly) rs1039014549
NM_001267550.2(TTN):c.61483C>G (p.Arg20495Gly) rs370128504
NM_001267550.2(TTN):c.62217T>A (p.Tyr20739Ter) rs727503586
NM_001267550.2(TTN):c.62931AGA[1] (p.Glu20979del) rs727505236
NM_001267550.2(TTN):c.6315A>C (p.Pro2105=) rs1347825753
NM_001267550.2(TTN):c.63269A>T (p.Tyr21090Phe) rs377480514
NM_001267550.2(TTN):c.63287T>A (p.Ile21096Asn) rs558727238
NM_001267550.2(TTN):c.6359G>T (p.Arg2120Leu) rs141142920
NM_001267550.2(TTN):c.63601C>T (p.Arg21201Ter) rs764243269
NM_001267550.2(TTN):c.6378G>A (p.Trp2126Ter) rs754781119
NM_001267550.2(TTN):c.64453C>T (p.Arg21485Ter) rs768345594
NM_001267550.2(TTN):c.64688dup (p.Gln21564fs) rs774395395
NM_001267550.2(TTN):c.65380G>A (p.Val21794Ile) rs373848128
NM_001267550.2(TTN):c.6583G>T (p.Glu2195Ter)
NM_001267550.2(TTN):c.66385C>T (p.Arg22129Cys) rs763729258
NM_001267550.2(TTN):c.66787C>T (p.Leu22263Phe) rs540425352
NM_001267550.2(TTN):c.67279C>T (p.Arg22427Ter) rs1200988060
NM_001267550.2(TTN):c.67541_67542delinsTG (p.Thr22514Met) rs1553622336
NM_001267550.2(TTN):c.6820C>T (p.Gln2274Ter) rs145649088
NM_001267550.2(TTN):c.68308del (p.Thr22770fs) rs1064796112
NM_001267550.2(TTN):c.68762C>T (p.Thr22921Ile) rs534567766
NM_001267550.2(TTN):c.69903C>A (p.Phe23301Leu) rs372799151
NM_001267550.2(TTN):c.69903C>T (p.Phe23301=) rs372799151
NM_001267550.2(TTN):c.70885A>G (p.Met23629Val) rs988918025
NM_001267550.2(TTN):c.71268T>C (p.Gly23756=) rs1709508227
NM_001267550.2(TTN):c.71305A>G (p.Thr23769Ala) rs776889753
NM_001267550.2(TTN):c.72716T>A (p.Met24239Lys) rs750298083
NM_001267550.2(TTN):c.74262A>G (p.Val24754=) rs745865847
NM_001267550.2(TTN):c.75663del (p.Lys25221fs) rs1131691542
NM_001267550.2(TTN):c.7595-7del rs774519095
NM_001267550.2(TTN):c.76739C>A (p.Thr25580Lys) rs56372592
NM_001267550.2(TTN):c.77185_77187delinsTAT (p.Lys25729Tyr) rs2154167395
NM_001267550.2(TTN):c.77249G>A (p.Arg25750Gln) rs368038362
NM_001267550.2(TTN):c.77646_77662delinsAGA (p.Ile25883fs) rs794729345
NM_001267550.2(TTN):c.7876C>T (p.Leu2626Phe) rs944728845
NM_001267550.2(TTN):c.79519_79520delinsAA (p.Ala26507Asn) rs886044012
NM_001267550.2(TTN):c.79684C>T (p.Arg26562Ter) rs869025545
NM_001267550.2(TTN):c.79862C>A (p.Thr26621Lys) rs3731746
NM_001267550.2(TTN):c.79883G>A (p.Arg26628Gln) rs201091376
NM_001267550.2(TTN):c.81036G>T (p.Lys27012Asn) rs550999055
NM_001267550.2(TTN):c.81527G>T (p.Arg27176Leu) rs199726308
NM_001267550.2(TTN):c.82385C>T (p.Thr27462Met) rs55933739
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile) rs371788070
NM_001267550.2(TTN):c.83281G>C (p.Val27761Leu) rs371788070
NM_001267550.2(TTN):c.85040T>C (p.Ile28347Thr) rs397517731
NM_001267550.2(TTN):c.85450G>T (p.Asp28484Tyr) rs56330345
NM_001267550.2(TTN):c.86445C>G (p.Ala28815=) rs1459326742
NM_001267550.2(TTN):c.86497_86498delinsTT (p.Ala28833Phe) rs794729519
NM_001267550.2(TTN):c.86729AAG[1] (p.Glu28911del) rs727504797
NM_001267550.2(TTN):c.87428G>T (p.Gly29143Val) rs368010212
NM_001267550.2(TTN):c.87899C>A (p.Thr29300Lys) rs1428308872
NM_001267550.2(TTN):c.88112T>C (p.Ile29371Thr) rs767890385
NM_001267550.2(TTN):c.89677T>G (p.Ser29893Ala) rs1382237741
NM_001267550.2(TTN):c.89708C>T (p.Thr29903Ile) rs72648240
NM_001267550.2(TTN):c.90715G>A (p.Ala30239Thr) rs879126335
NM_001267550.2(TTN):c.90968G>C (p.Arg30323Thr) rs11887722
NM_001267550.2(TTN):c.91642G>C (p.Ala30548Pro) rs369043548
NM_001267550.2(TTN):c.91808A>G (p.Asn30603Ser) rs794729533
NM_001267550.2(TTN):c.94282C>A (p.Arg31428Ser) rs190282707
NM_001267550.2(TTN):c.94282C>G (p.Arg31428Gly) rs190282707
NM_001267550.2(TTN):c.94524T>G (p.Asp31508Glu) rs727505200
NM_001267550.2(TTN):c.95126C>G (p.Pro31709Arg) rs869320739
NM_001267550.2(TTN):c.95372G>A (p.Gly31791Asp) rs869320744
NM_001267550.2(TTN):c.9577C>T (p.Arg3193Ter) rs746115846
NM_001267550.2(TTN):c.96235G>A (p.Asp32079Asn) rs200540781
NM_001267550.2(TTN):c.97129_97130dup (p.Leu32379fs) rs748382770
NM_001267550.2(TTN):c.98893G>A (p.Asp32965Asn) rs186405108
NM_001267550.2(TTN):c.98893G>C (p.Asp32965His) rs186405108
NM_001267550.2(TTN):c.98959_98960delinsCT (p.Ser32987Leu) rs727504588
NM_001267550.2(TTN):c.99643C>T (p.Arg33215Trp) rs377598016
NM_001271.4(CHD2):c.3782G>T (p.Trp1261Leu) rs1555444603
NM_001271.4(CHD2):c.4500A>T (p.Glu1500Asp) rs776113114
NM_001271.4(CHD2):c.4901A>T (p.Asn1634Ile) rs761860129
NM_001273.5(CHD4):c.3017T>G (p.Val1006Gly) rs2540396625
NM_001276309.3(NOL3):c.61G>C (p.Glu21Gln) rs397514600
NM_001277115.2(DNAH11):c.4922C>G (p.Ser1641Ter) rs2128460324
NM_001277115.2(DNAH11):c.5506C>T (p.Arg1836Ter) rs370080269
NM_001278116.2(L1CAM):c.2593C>T (p.His865Tyr) rs202067345
NM_001278116.2(L1CAM):c.400+5G>A rs1569544908
NM_001282225.2(ADA2):c.140G>T (p.Gly47Val) rs200930463
NM_001282531.3(ADNP):c.2971A>G (p.Met991Val) rs564373258
NM_001283009.2(RTEL1):c.901_919+72del rs1569090870
NM_001286577.2(C2CD3):c.994dup (p.Val332fs) rs750700691
NM_001287.6(CLCN7):c.1194G>A (p.Trp398Ter) rs757198557
NM_001287.6(CLCN7):c.1384A>G (p.Met462Val)
NM_001291415.2(KDM6A):c.3793C>T (p.Arg1265Ter) rs2148193855
NM_001298.3(CNGA3):c.667C>G (p.Arg223Gly) rs138958917
NM_001303052.2(MYT1L):c.1573C>T (p.Arg525Cys) rs2149071722
NM_001312909.2(FAM111A):c.1515dup (p.Ala506fs) rs762116864
NM_001317778.2(SFTPC):c.218T>C (p.Ile73Thr) rs121917834
NM_001321075.3(DLG4):c.1486C>T (p.Arg496Ter) rs2142828228
NM_001321075.3(DLG4):c.990C>T (p.Gly330=) rs769940216
NM_001323289.2(CDKL5):c.2157A>G (p.Pro719=) rs200333632
NM_001330260.2(SCN8A):c.4819G>A (p.Glu1607Lys) rs1555230905
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser) rs587780455
NM_001330288.2(SMARCC2):c.1382+1G>A rs2540917266
NM_001348323.3(TRIP12):c.5801C>T (p.Pro1934Leu) rs747501109
NM_001349338.3(FOXP1):c.1541G>A (p.Arg514His) rs797045586
NM_001351132.2(PEX5):c.1578T>G (p.Asn526Lys) rs61752138
NM_001352514.2(HLCS):c.1631del (p.Asp544fs) rs2517424327
NM_001352514.2(HLCS):c.1668C>A (p.Ser556=) rs771923409
NM_001354604.2(MITF):c.1150G>A (p.Ala384Thr) rs202020443
NM_001354604.2(MITF):c.1517G>A (p.Gly506Glu) rs548265796
NM_001355436.2(SPTB):c.1101del (p.Phe367fs) rs2503188605
NM_001355436.2(SPTB):c.1249C>T (p.Gln417Ter) rs2139606980
NM_001355436.2(SPTB):c.1324C>T (p.Gln442Ter) rs2503180293
NM_001355436.2(SPTB):c.1342-10G>A rs1037576854
NM_001355436.2(SPTB):c.1473_1474del (p.Asn492fs) rs2503174606
NM_001355436.2(SPTB):c.154C>T (p.Arg52Trp) rs1594796374
NM_001355436.2(SPTB):c.155G>A (p.Arg52Gln) rs1452760098
NM_001355436.2(SPTB):c.1829_1832dup (p.Ile612fs) rs2503163092
NM_001355436.2(SPTB):c.1903C>T (p.Gln635Ter) rs2503162520
NM_001355436.2(SPTB):c.1A>G (p.Met1Val) rs121918651
NM_001355436.2(SPTB):c.208C>T (p.Arg70Ter) rs1566775577
NM_001355436.2(SPTB):c.2170C>T (p.Gln724Ter) rs1327286039
NM_001355436.2(SPTB):c.2524C>T (p.Gln842Ter) rs2503157059
NM_001355436.2(SPTB):c.3088G>T (p.Glu1030Ter) rs757425728
NM_001355436.2(SPTB):c.3241C>T (p.Gln1081Ter) rs2503129257
NM_001355436.2(SPTB):c.3391C>T (p.Gln1131Ter) rs2082573854
NM_001355436.2(SPTB):c.3496C>T (p.Gln1166Ter) rs2503126931
NM_001355436.2(SPTB):c.3590del (p.Pro1197fs) rs2503123019
NM_001355436.2(SPTB):c.3592_3594delinsAGTGATCCAGGCTCACTGGA (p.Asp1198fs)
NM_001355436.2(SPTB):c.361C>T (p.Gln121Ter) rs2503220523
NM_001355436.2(SPTB):c.3763A>G (p.Arg1255Gly) rs2503121304
NM_001355436.2(SPTB):c.3765-1G>A rs2503120102
NM_001355436.2(SPTB):c.3935G>A (p.Trp1312Ter) rs140446828
NM_001355436.2(SPTB):c.4033C>T (p.Gln1345Ter) rs2139546760
NM_001355436.2(SPTB):c.4399del (p.Pro1466_Leu1467insTer) rs2139533161
NM_001355436.2(SPTB):c.443G>A (p.Gly148Asp) rs2082929857
NM_001355436.2(SPTB):c.4479G>A (p.Trp1493Ter) rs2503087933
NM_001355436.2(SPTB):c.4540C>T (p.Gln1514Ter) rs2139530114
NM_001355436.2(SPTB):c.4627C>T (p.Gln1543Ter)
NM_001355436.2(SPTB):c.4722del (p.Arg1576fs)
NM_001355436.2(SPTB):c.4732C>T (p.Gln1578Ter)
NM_001355436.2(SPTB):c.4735C>T (p.Arg1579Ter) rs760938057
NM_001355436.2(SPTB):c.474+1G>T
NM_001355436.2(SPTB):c.4973+5G>A rs1555367789
NM_001355436.2(SPTB):c.5493dup (p.Glu1832fs)
NM_001355436.2(SPTB):c.5853_5854del (p.Glu1951fs) rs2503042184
NM_001355436.2(SPTB):c.5856del (p.Ile1952fs) rs1158755002
NM_001355436.2(SPTB):c.5898C>T (p.Gly1966=) rs2139488882
NM_001355436.2(SPTB):c.6074T>G (p.Leu2025Arg) rs121918649
NM_001355436.2(SPTB):c.6119_6120del (p.Thr2040fs) rs2139480757
NM_001355436.2(SPTB):c.6224A>G (p.Glu2075Gly) rs1235889026
NM_001355436.2(SPTB):c.647G>A (p.Arg216Gln) rs1555371769
NM_001355436.2(SPTB):c.6748AAG[3] (p.Lys2253del) rs753593714
NM_001356.5(DDX3X):c.1541T>C (p.Ile514Thr) rs796052226
NM_001356.5(DDX3X):c.874C>T (p.Arg292Ter) rs1555953488
NM_001360.3(DHCR7):c.1190C>T (p.Ser397Leu) rs773134475
NM_001360.3(DHCR7):c.385_412+5del rs746482788
NM_001360.3(DHCR7):c.461C>T (p.Thr154Met) rs143312232
NM_001360.3(DHCR7):c.730G>A (p.Gly244Arg) rs121909764
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001360016.2(G6PD):c.1246G>A (p.Glu416Lys) rs2523262484
NM_001360016.2(G6PD):c.1318C>T (p.Leu440Phe) rs1557229599
NM_001360016.2(G6PD):c.1454G>A (p.Gly485Asp)
NM_001360016.2(G6PD):c.1466C>T (p.Pro489Leu) rs2523260637
NM_001360016.2(G6PD):c.376A>T (p.Asn126Tyr) rs1050829
NM_001360016.2(G6PD):c.383T>G (p.Leu128Arg) rs78365220
NM_001360016.2(G6PD):c.835A>T (p.Thr279Ser) rs2148329890
NM_001363118.2(SLC52A2):c.940G>A (p.Val314Met) rs2489047024
NM_001363711.2(DUOX2):c.1871del (p.Gly624fs) rs769258094
NM_001363711.2(DUOX2):c.2654G>T (p.Arg885Leu) rs181461079
NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs) rs530719719
NM_001363711.2(DUOX2):c.602dup (p.Gln202fs) rs567500345
NM_001365536.1(SCN9A):c.2576T>C (p.Ile859Thr) rs80356474
NM_001365902.3(NFIX):c.373A>G (p.Lys125Glu) rs2145192745
NM_001367561.1(DOCK7):c.2503A>G (p.Asn835Asp) rs747830413
NM_001367721.1(CASK):c.764G>A (p.Arg255His) rs587783369
NM_001367805.3(KIF23):c.1504A>G (p.Ile502Val)
NM_001368067.1(LDB3):c.439G>A (p.Ala147Thr) rs121908333
NM_001369.3(DNAH5):c.2283_2284del (p.Arg761fs) rs1462578042
NM_001369268.1(ACAN):c.1551C>G (p.Tyr517Ter) rs765556817
NM_001370259.2(MEN1):c.1166G>A (p.Arg389Gln) rs775267651
NM_001370259.2(MEN1):c.1308G>T (p.Trp436Cys) rs398124435
NM_001370658.1(BTD):c.1568A>G (p.Asp523Gly) rs1050035768
NM_001370658.1(BTD):c.500del (p.Pro167fs) rs2125500629
NM_001370658.1(BTD):c.545A>T (p.Asn182Ile) rs397514376
NM_001371596.2(MFSD8):c.415C>T (p.Arg139Cys) rs993001712
NM_001371596.2(MFSD8):c.881C>A (p.Thr294Lys) rs140948465
NM_001371928.1(AHDC1):c.4349C>T (p.Pro1450Leu) rs377174668
NM_001371986.1(UNC80):c.409C>T (p.Arg137Ter) rs1289499829
NM_001372.4(DNAH9):c.308dup (p.Leu104fs) rs769795916
NM_001372066.1(TFAP2A):c.769A>G (p.Arg257Gly) rs121909574
NM_001374385.1(ATP8B1):c.136C>T (p.Arg46Ter) rs775827012
NM_001374385.1(ATP8B1):c.3118G>A (p.Gly1040Arg) rs1438249656
NM_001374828.1(ARID1B):c.3955dup (p.Gln1319fs) rs1289067120
NM_001376.5(DYNC1H1):c.2252G>A (p.Arg751Gln) rs2141275001
NM_001376.5(DYNC1H1):c.4868G>A (p.Arg1623Gln) rs1064796765
NM_001376.5(DYNC1H1):c.791G>A (p.Arg264Gln) rs713993043
NM_001376571.1(MADD):c.4887G>T (p.Ser1629=) rs184207033
NM_001377.3(DYNC2H1):c.4219C>T (p.Gln1407Ter) rs1395482031
NM_001377.3(DYNC2H1):c.4698del (p.Gln1566fs) rs1565359085
NM_001377299.1(NDUFS2):c.683G>A (p.Arg228Gln) rs121434427
NM_001378183.1(PIEZO2):c.1261G>C (p.Gly421Arg) rs202104395
NM_001378418.1(TCF20):c.2518C>G (p.Pro840Ala) rs1921140611
NM_001378452.1(ITPR1):c.7660G>T (p.Gly2554Trp) rs752281590
NM_001378452.1(ITPR1):c.7793T>C (p.Ile2598Thr) rs1553758021
NM_001378454.1(ALMS1):c.9840A>C (p.Pro3280=) rs1392755260
NM_001378609.3(OTOGL):c.6162_6163del (p.Ala2055fs) rs754134498
NM_001378615.1(CC2D2A):c.4531T>C (p.Trp1511Arg) rs1721483506
NM_001379029.1(CERT1):c.395C>T (p.Ser132Leu) rs1064794019
NM_001379200.1(TBX1):c.330GAA[2] (p.Lys112del) rs369050575
NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe) rs62625014
NM_001379286.1(ZNF423):c.2532G>A (p.Ala844=) rs1322586390
NM_001379659.1(ZNF142):c.5036del (p.Pro1679fs) rs771085529
NM_001379659.1(ZNF142):c.916C>T (p.Gln306Ter) rs2469743343
NM_001382391.1(CSPP1):c.3330+2T>C rs527372531
NM_001382391.1(CSPP1):c.59_60del (p.Lys20fs) rs766020802
NM_001382567.1(STIM1):c.792-3dup rs764247879
NM_001383.6(DPH1):c.686T>C (p.Leu229Pro) rs730882250
NM_001384140.1(PCDH15):c.1830_1833del (p.Asn610fs) rs1057517261
NM_001384474.1(LOXHD1):c.1537_1538del (p.Leu513fs) rs1555683951
NM_001384732.1(CPLANE1):c.8150_8151del (p.Gly2717fs) rs730882217
NM_001385012.1(NBEA):c.2924A>G (p.Lys975Arg) rs2503622228
NM_001386135.1(AFF3):c.698C>T (p.Ala233Val) rs2104734977
NM_001395891.1(CLASP1):c.196-570C>T rs750325275
NM_001399.5(EDA):c.648_683del (p.Pro219_Gly230del) rs876657685
NM_001429.4(EP300):c.2997+1G>A rs1169505007
NM_001429.4(EP300):c.4783T>G (p.Phe1595Val) rs1057517732
NM_001429.4(EP300):c.6970dup (p.His2324fs) rs754418509
NM_001457.4(FLNB):c.1711G>A (p.Val571Met) rs760127618
NM_001458.5(FLNC):c.2167G>A (p.Asp723Asn) rs375414341
NM_001458.5(FLNC):c.3092C>T (p.Pro1031Leu) rs372467579
NM_001458.5(FLNC):c.5363T>G (p.Val1788Gly) rs573899913
NM_001458.5(FLNC):c.577G>A (p.Ala193Thr) rs387906587
NM_001458.5(FLNC):c.6190dup (p.Val2064fs) rs1808888920
NM_001458.5(FLNC):c.6422G>A (p.Arg2141Gln) rs769106207
NM_001458.5(FLNC):c.752T>C (p.Met251Thr) rs387906586
NM_001458.5(FLNC):c.7909A>C (p.Lys2637Gln) rs767794768
NM_001492.6(GDF1):c.648G>A (p.Ala216=)
NM_001540.5(HSPB1):c.180dup (p.Ala61fs) rs1064796370
NM_001556.3(IKBKB):c.512A>G (p.Lys171Arg) rs1064795873
NM_001567.4(INPPL1):c.2213-2A>C rs1948918434
NM_001611.5(ACP5):c.766G>C (p.Val256Leu) rs146196342
NM_001614.5(ACTG1):c.1003C>T (p.Arg335Cys) rs1568060200
NM_001658.4(ARF1):c.296G>A (p.Arg99His) rs1558087712
NM_001673.5(ASNS):c.1084T>G (p.Phe362Val) rs398122973
NM_001673.5(ASNS):c.1193A>G (p.Tyr398Cys) rs1166271142
NM_001692.4(ATP6V1B1):c.1155dup (p.Ile386fs) rs781969081
NM_001692.4(ATP6V1B1):c.27_28delinsC (p.Leu12fs) rs1679840658
NM_001693.4(ATP6V1B2):c.43C>T (p.Pro15Ser) rs376671385
NM_001844.5(COL2A1):c.1453G>A (p.Ala485Thr) rs556023617
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser) rs121912870
NM_001845.6(COL4A1):c.1952_1954del (p.Glu651del) rs751234195
NM_001845.6(COL4A1):c.2069G>A (p.Gly690Glu) rs1013805396
NM_001845.6(COL4A1):c.2636G>A (p.Gly879Glu) rs2139164015
NM_001845.6(COL4A1):c.943C>T (p.Arg315Cys) rs1057517719
NM_001848.3(COL6A1):c.1013G>A (p.Gly338Glu) rs794727121
NM_001848.3(COL6A1):c.2197_2200del (p.Asp733fs) rs1330933906
NM_001848.3(COL6A1):c.2435-2A>G rs940473416
NM_001848.3(COL6A1):c.631C>T (p.Arg211Cys) rs375217284
NM_001848.3(COL6A1):c.788G>A (p.Gly263Asp) rs886043351
NM_001848.3(COL6A1):c.877G>A (p.Gly293Arg) rs398123643
NM_001848.3(COL6A1):c.932G>A (p.Gly311Asp) rs886044231
NM_001849.3(COL6A2):c.2312dup (p.Asn771Lysfs) rs886043164
NM_001849.4(COL6A2):c.1336G>A (p.Asp446Asn) rs535007570
NM_001849.4(COL6A2):c.1561C>T (p.Arg521Ter) rs773686174
NM_001849.4(COL6A2):c.1572+1G>A rs1057520717
NM_001849.4(COL6A2):c.1651AAAGGAGAG[1] (p.551KGE[1]) rs773493556
NM_001849.4(COL6A2):c.1861G>A (p.Asp621Asn) rs267606750
NM_001849.4(COL6A2):c.1997G>A (p.Ser666Asn) rs786205642
NM_001849.4(COL6A2):c.2894G>C (p.Arg965Pro) rs201854898
NM_001854.4(COL11A1):c.5003C>T (p.Pro1668Leu) rs541676352
NM_001854.4(COL11A1):c.560C>A (p.Thr187Lys) rs184606223
NM_001854.4(COL11A1):c.560C>T (p.Thr187Met) rs184606223
NM_001875.5(CPS1):c.2453C>T (p.Pro818Leu) rs138718997
NM_001875.5(CPS1):c.2959G>T (p.Gly987Cys) rs1553516443
NM_001875.5(CPS1):c.4404+3A>G rs2469385921
NM_001876.4(CPT1A):c.535G>A (p.Val179Ile) rs542856213
NM_001887.4(CRYBB1):c.171del (p.Asn58fs) rs1064793935
NM_001918.5(DBT):c.250T>C (p.Trp84Arg) rs113842781
NM_001927.4(DES):c.1034T>C (p.Leu345Pro) rs57639980
NM_001927.4(DES):c.1346A>C (p.Lys449Thr) rs267607485
NM_001927.4(DES):c.1358C>T (p.Thr453Ile) rs267607488
NM_001927.4(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_001927.4(DES):c.35C>T (p.Ser12Phe) rs267607495
NM_001927.4(DES):c.404C>T (p.Ala135Val) rs546741834
NM_001940.4(ATN1):c.1509_1511dup (p.His504_Gly505insHis) rs1555143796
NM_001943.5(DSG2):c.1319_1320del (p.Val440fs) rs775256998
NM_001943.5(DSG2):c.1_8dup (p.Ser4fs)
NM_001943.5(DSG2):c.3175T>A (p.Ser1059Thr) rs201786158
NM_001953.5(TYMP):c.11del (p.Ala3_Leu4insTer) rs764792655
NM_001953.5(TYMP):c.928+1G>A rs1064792876
NM_001958.5(EEF1A2):c.1029+3G>T rs111392970
NM_001972.4(ELANE):c.2T>C (p.Met1Thr) rs2035606369
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter) rs138726443
NM_002024.6(FMR1):c.104+3_104+6del rs2043190584
NM_002055.5(GFAP):c.236G>A (p.Arg79His) rs59285727
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) rs752746786
NM_002103.5(GYS1):c.1A>C (p.Met1Leu) rs748334413
NM_002137.4(HNRNPA2B1):c.928GGT[1] (p.Gly311del) rs776731510
NM_002180.3(IGHMBP2):c.861C>G (p.Ser287Arg) rs564645287
NM_002181.4(IHH):c.472C>T (p.Arg158Cys) rs2469514264
NM_002185.5(IL7R):c.235G>T (p.Glu79Ter) rs1354581284
NM_002206.3(ITGA7):c.1068T>A (p.Tyr356Ter)
NM_002206.3(ITGA7):c.1088dup (p.His364fs) rs587780362
NM_002206.3(ITGA7):c.1446_1453del (p.Ile483fs) rs1474512248
NM_002206.3(ITGA7):c.226C>T (p.Gln76Ter) rs2136073462
NM_002206.3(ITGA7):c.3075C>G (p.Tyr1025Ter) rs754699820
NM_002206.3(ITGA7):c.34dup (p.Ala12fs) rs1384460756
NM_002224.4(ITPR3):c.4271C>T (p.Thr1424Met) rs1561875704
NM_002225.5(IVD):c.1183C>T (p.Arg395Ter) rs398123681
NM_002225.5(IVD):c.618del (p.Ile206fs) rs781630355
NM_002234.4(KCNA5):c.213_245del (p.Asp72_Pro82del) rs144879674
NM_002241.5(KCNJ10):c.626T>C (p.Ile209Thr) rs1404425302
NM_002250.3(KCNN4):c.844G>A (p.Val282Met) rs1057519076
NM_002250.3(KCNN4):c.845T>A (p.Val282Glu) rs1057519077
NM_002294.3(LAMP2):c.64+8G>C
NM_002354.3(EPCAM):c.73G>T (p.Glu25Ter) rs1385489500
NM_002397.5(MEF2C):c.565C>T (p.Arg189Ter) rs587783747
NM_002435.3(MPI):c.1022del (p.Pro341fs) rs765310894
NM_002435.3(MPI):c.339_342dup (p.Lys115Ter) rs1661886822
NM_002437.5(MPV17):c.190C>T (p.Pro64Ser) rs2465683495
NM_002437.5(MPV17):c.268TTG[1] (p.Leu91del) rs267607264
NM_002437.5(MPV17):c.278A>C (p.Gln93Pro) rs200938111
NM_002465.4(MYBPC1):c.788T>G (p.Leu263Arg) rs1565943228
NM_002470.4(MYH3):c.1123G>A (p.Glu375Lys) rs121913621
NM_002470.4(MYH3):c.3329_3330del (p.Lys1110fs) rs2508595763
NM_002470.4(MYH3):c.3751C>T (p.Arg1251Ter) rs1449708494
NM_002474.3(MYH11):c.2135G>A (p.Arg712Gln) rs267606902
NM_002474.3(MYH11):c.3757AAG[3] (p.Lys1256del) rs730880147
NM_002485.5(NBN):c.1255_1258del (p.Asn419fs) rs1238152597
NM_002485.5(NBN):c.1483_1484delinsA (p.Pro495fs) rs764884516
NM_002485.5(NBN):c.1648_1651del (p.Lys550fs) rs766044684
NM_002485.5(NBN):c.306del (p.Phe102fs) rs587781305
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002485.5(NBN):c.808_809del (p.Val270fs) rs786202490
NM_002510.3(GPNMB):c.319_332del (p.Lys107fs) rs758729806
NM_002585.4(PBX1):c.700C>T (p.Arg234Trp) rs1218945005
NM_002618.4(PEX13):c.383G>T (p.Gly128Val) rs554152771
NM_002633.3(PGM1):c.184G>C (p.Asp62His) rs587777403
NM_002641.4(PIGA):c.356G>A (p.Arg119Gln) rs2519331621
NM_002693.3(POLG):c.1251-5C>T rs199621975
NM_002693.3(POLG):c.159_164dup (p.Gln54_Gln55dup) rs760135553
NM_002693.3(POLG):c.2217_2230dup (p.Ile744fs) rs1282521429
NM_002693.3(POLG):c.3151G>C (p.Gly1051Arg) rs121918049
NM_002693.3(POLG):c.830A>T (p.His277Leu) rs138929605
NM_002693.3(POLG):c.970C>T (p.Pro324Ser) rs2307437
NM_002742.3(PRKD1):c.1808G>A (p.Arg603His) rs776034417
NM_002769.5(PRSS1):c.346C>T (p.Arg116Cys) rs387906698
NM_002816.5(PSMD12):c.430C>T (p.Arg144Ter) rs2041990527
NM_002834.5(PTPN11):c.1530G>C (p.Gln510His) rs397507550
NM_002834.5(PTPN11):c.179G>C (p.Gly60Ala) rs397507509
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) rs267606990
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser) rs397507527
NM_002834.5(PTPN11):c.853T>G (p.Phe285Val) rs397507531
NM_002878.4(RAD51D):c.163C>T (p.Arg55Trp) rs775268017
NM_002878.4(RAD51D):c.1A>T (p.Met1Leu) rs561425038
NM_002880.4(RAF1):c.124_125delinsAT (p.Ala42Ile) rs876657965
NM_002880.4(RAF1):c.779C>T (p.Thr260Ile) rs869025501
NM_002968.3(SALL1):c.826C>T (p.Arg276Ter) rs104894537
NM_002971.6(SATB1):c.1588G>A (p.Glu530Lys) rs1694399198
NM_003011.4(SET):c.130_133del (p.Arg44fs) rs1554776342
NM_003036.4(SKI):c.1205G>A (p.Arg402Gln) rs557289756
NM_003042.4(SLC6A1):c.606C>G (p.Asp202Glu) rs146894194
NM_003054.6(SLC18A2):c.710C>A (p.Pro237His) rs767337086
NM_003060.4(SLC22A5):c.1175TGC[2] (p.Leu394del) rs386134215
NM_003060.4(SLC22A5):c.1252C>T (p.Gln418Ter) rs1057518297
NM_003060.4(SLC22A5):c.1324_1325delinsAT (p.Ala442Ile) rs267607053
NM_003060.4(SLC22A5):c.1412G>A (p.Arg471His) rs386134223
NM_003060.4(SLC22A5):c.505C>T (p.Arg169Trp) rs121908890
NM_003060.4(SLC22A5):c.64TTC[1] (p.Phe23del) rs377767444
NM_003060.4(SLC22A5):c.952-5_955del rs2126787981
NM_003070.5(SMARCA2):c.3476G>A (p.Arg1159Gln) rs281875187
NM_003070.5(SMARCA2):c.669GCA[7] (p.Gln233_Gln238del) rs113070757
NM_003072.5(SMARCA4):c.2576C>T (p.Thr859Met) rs281875226
NM_003073.5(SMARCB1):c.110G>A (p.Arg37His) rs398122368
NM_003073.5(SMARCB1):c.1121G>A (p.Arg374Gln) rs1057517825
NM_003104.6(SORD):c.757del (p.Ala253fs) rs55901542
NM_003108.4(SOX11):c.700G>T (p.Glu234Ter) rs780122780
NM_003119.4(SPG7):c.1169T>C (p.Val390Ala) rs2058357964
NM_003119.4(SPG7):c.1186G>T (p.Glu396Ter) rs2058358241
NM_003119.4(SPG7):c.1450-1_1457del rs768823392
NM_003126.4(SPTA1):c.101G>C (p.Arg34Pro) rs567686069
NM_003126.4(SPTA1):c.121C>A (p.Arg41=) rs121918640
NM_003126.4(SPTA1):c.134G>C (p.Arg45Thr) rs374697328
NM_003126.4(SPTA1):c.1406_1408del (p.His469del) rs775280006
NM_003126.4(SPTA1):c.1468A>C (p.Ser490Arg)
NM_003126.4(SPTA1):c.1703G>C (p.Arg568Pro) rs200829664
NM_003126.4(SPTA1):c.1902G>A (p.Lys634=) rs374442926
NM_003126.4(SPTA1):c.2209G>A (p.Ala737Thr)
NM_003126.4(SPTA1):c.230C>A (p.Thr77Asn)
NM_003126.4(SPTA1):c.2353C>T (p.Arg785Ter) rs2022057
NM_003126.4(SPTA1):c.2659C>T (p.Arg887Ter) rs757845058
NM_003126.4(SPTA1):c.2947A>G (p.Met983Val)
NM_003126.4(SPTA1):c.2980C>T (p.Arg994Ter) rs1265895182
NM_003126.4(SPTA1):c.3374del (p.Lys1125fs) rs2525111885
NM_003126.4(SPTA1):c.4076_4077del (p.Gly1359fs) rs2525049766
NM_003126.4(SPTA1):c.409C>A (p.Arg137Ser) rs772799574
NM_003126.4(SPTA1):c.4106dup (p.Leu1370fs) rs1161647781
NM_003126.4(SPTA1):c.410G>A (p.Arg137His) rs200716254
NM_003126.4(SPTA1):c.460_462dup (p.Leu155dup) rs757679761
NM_003126.4(SPTA1):c.4651C>T (p.Arg1551Ter) rs777656764
NM_003126.4(SPTA1):c.5102T>A (p.Leu1701Ter) rs200748323
NM_003126.4(SPTA1):c.5281G>T (p.Glu1761Ter) rs753849540
NM_003126.4(SPTA1):c.531+1G>A rs1402383909
NM_003126.4(SPTA1):c.5386C>T (p.Gln1796Ter) rs763899069
NM_003126.4(SPTA1):c.6047G>A (p.Arg2016His) rs199993378
NM_003126.4(SPTA1):c.6154del (p.Ala2052fs) rs1485424248
NM_003126.4(SPTA1):c.6319C>T (p.Gln2107Ter) rs974172420
NM_003126.4(SPTA1):c.6421C>T (p.Arg2141Trp) rs41273519
NM_003126.4(SPTA1):c.678+7T>C rs1654731473
NM_003126.4(SPTA1):c.7199del (p.Gly2400fs) rs1421435359
NM_003126.4(SPTA1):c.83G>T (p.Arg28Leu) rs121918641
NM_003172.4(SURF1):c.324-11T>G rs375398247
NM_003193.5(TBCE):c.464T>A (p.Ile155Asn) rs780472451
NM_003227.4(TFR2):c.313C>T (p.Arg105Ter) rs80338878
NM_003242.6(TGFBR2):c.1336G>A (p.Asp446Asn) rs886039551
NM_003322.6(TULP1):c.1266C>T (p.Thr422=) rs747534563
NM_003331.5(TYK2):c.789C>T (p.Leu263=) rs761512367
NM_003361.4(UMOD):c.533G>C (p.Arg178Pro) rs1228791562
NM_003366.4(UQCRC2):c.266T>C (p.Leu89Pro) rs2141926322
NM_003366.4(UQCRC2):c.547C>T (p.Arg183Trp) rs374661051
NM_003383.5(VLDLR):c.2465G>A (p.Trp822Ter) rs2130810631
NM_003401.5(XRCC4):c.25del (p.His9fs) rs869320677
NM_003477.3(PDHX):c.711dup (p.Thr238fs) rs776567343
NM_003482.4(KMT2D):c.11796ACAGCAGCA[1] (p.Gln3937_Gln3939del) rs759803583
NM_003482.4(KMT2D):c.12705G>A (p.Gln4235=) rs905791071
NM_003482.4(KMT2D):c.15142C>T (p.Arg5048Cys) rs398123724
NM_003482.4(KMT2D):c.8027_8028del (p.Glu2676fs) rs1555191665
NM_003491.4(NAA10):c.10C>G (p.Arg4Gly) rs2148537151
NM_003560.4(PLA2G6):c.2098C>T (p.Gln700Ter) rs587784346
NM_003560.4(PLA2G6):c.671T>C (p.Leu224Pro) rs2145803751
NM_003590.5(CUL3):c.1349_1350del (p.Asp449_Ser450insTer) rs1553521389
NM_003640.5(ELP1):c.2825G>A (p.Arg942Gln) rs149845612
NM_003665.4(FCN3):c.349del (p.Leu117fs) rs532781899
NM_003673.4(TCAP):c.313G>A (p.Glu105Lys) rs146906267
NM_003673.4(TCAP):c.472C>A (p.Arg158Ser) rs397516863
NM_003676.4(DEGS1):c.110T>C (p.Met37Thr) rs1388884067
NM_003676.4(DEGS1):c.320G>A (p.Trp107Ter) rs1382083552
NM_003718.5(CDK13):c.2149G>A (p.Gly717Arg) rs1057519632
NM_003721.4(RFXANK):c.362A>T (p.Asp121Val) rs104894709
NM_003722.5(TP63):c.1010G>A (p.Arg337Gln) rs113993967
NM_003737.4(DCHS1):c.6421C>T (p.Arg2141Ter)
NM_003737.4(DCHS1):c.8972G>A (p.Arg2991Gln) rs200152314
NM_003742.4(ABCB11):c.585G>C (p.Val195=) rs11568365
NM_003742.4(ABCB11):c.677C>T (p.Ser226Leu) rs1382100120
NM_003748.4(ALDH4A1):c.1560dup (p.Gly521fs) rs779536510
NM_003850.3(SUCLA2):c.815A>T (p.Asp272Val) rs1555256440
NM_003865.3(HESX1):c.3G>A (p.Met1Ile) rs2107566038
NM_003896.4(ST3GAL5):c.1024G>A (p.Gly342Ser) rs367638648
NM_003896.4(ST3GAL5):c.353del (p.Lys118fs) rs754643632
NM_003919.3(SGCE):c.1058_1062del (p.Thr353fs) rs758213105
NM_003919.3(SGCE):c.436T>A (p.Leu146Met) rs752074255
NM_003922.4(HERC1):c.11407G>A (p.Val3803Ile) rs1025829736
NM_003978.5(PSTPIP1):c.1207G>C (p.Gly403Arg) rs369113632
NM_003982.4(SLC7A7):c.499+1G>A rs386833817
NM_003995.4(NPR2):c.2966G>T (p.Arg989Leu) rs771373457
NM_003998.4(NFKB1):c.904dup (p.Ser302fs) rs773694113
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004004.6(GJB2):c.380G>T (p.Arg127Leu) rs111033196
NM_004004.6(GJB2):c.456C>G (p.Tyr152Ter) rs111033420
NM_004004.6(GJB2):c.647_650del (p.Arg216fs) rs587783647
NM_004006.3(DMD):c.10098AGA[1] (p.Glu3367del) rs886042840
NM_004006.3(DMD):c.10103A>G (p.Asp3368Gly) rs2148292190
NM_004006.3(DMD):c.10504del (p.Glu3502fs) rs1556024147
NM_004006.3(DMD):c.10588C>T (p.Gln3530Ter) rs2147935982
NM_004006.3(DMD):c.1128dup (p.Asp377fs) rs886044624
NM_004006.3(DMD):c.1270del (p.Gln423_Met424insTer) rs1602459861
NM_004006.3(DMD):c.1602+1G>T rs1057517960
NM_004006.3(DMD):c.1653G>A (p.Trp551Ter) rs1060502629
NM_004006.3(DMD):c.1687C>A (p.Arg563Ser) rs145739725
NM_004006.3(DMD):c.170T>G (p.Leu57Arg) rs886044431
NM_004006.3(DMD):c.2485C>T (p.Gln829Ter) rs753662330
NM_004006.3(DMD):c.2603del (p.Ser868fs) rs886042348
NM_004006.3(DMD):c.2623-1G>T rs794729005
NM_004006.3(DMD):c.2804-2A>C rs794727357
NM_004006.3(DMD):c.2912A>G (p.Asp971Gly) rs762154042
NM_004006.3(DMD):c.30T>A (p.Cys10Ter) rs2521941756
NM_004006.3(DMD):c.31+36947G>A rs886042106
NM_004006.3(DMD):c.3276+2del rs1557369964
NM_004006.3(DMD):c.3432+3A>G rs398123938
NM_004006.3(DMD):c.3603+2_3603+3insTA rs1603633860
NM_004006.3(DMD):c.3639dup (p.Val1214fs) rs398123943
NM_004006.3(DMD):c.3649C>G (p.Leu1217Val) rs886042839
NM_004006.3(DMD):c.3668G>C (p.Ser1223Thr) rs2098315075
NM_004006.3(DMD):c.3696A>G (p.Ala1232=) rs369971712
NM_004006.3(DMD):c.3747del (p.Trp1249fs) rs398123945
NM_004006.3(DMD):c.3818C>T (p.Ser1273Leu) rs2148222516
NM_004006.3(DMD):c.3850G>T (p.Glu1284Ter) rs1557359192
NM_004006.3(DMD):c.4294C>G (p.Gln1432Glu) rs1603632326
NM_004006.3(DMD):c.5089C>T (p.Gln1697Ter) rs886042347
NM_004006.3(DMD):c.5602_5605del (p.Arg1868fs) rs863225003
NM_004006.3(DMD):c.5729_5733del (p.Arg1910fs) rs1569558953
NM_004006.3(DMD):c.5941dup (p.Thr1981fs) rs2520270976
NM_004006.3(DMD):c.649+5G>T rs1557047808
NM_004006.3(DMD):c.649G>A (p.Asp217Asn) rs2077187880
NM_004006.3(DMD):c.673AAG[1] (p.Lys226del) rs398124034
NM_004006.3(DMD):c.6762+3A>T rs1085307811
NM_004006.3(DMD):c.7070del (p.Pro2357fs) rs2532452677
NM_004006.3(DMD):c.7295_7296del (p.Thr2432fs) rs794727746
NM_004006.3(DMD):c.76A>G (p.Asn26Asp) rs1057521321
NM_004006.3(DMD):c.7712G>A (p.Arg2571Gln) rs371588290
NM_004006.3(DMD):c.79G>C (p.Ala27Pro) rs886043234
NM_004006.3(DMD):c.9361+1G>A rs398124094
NM_004006.3(DMD):c.9361+1G>C rs398124094
NM_004006.3(DMD):c.9947G>A (p.Cys3316Tyr) rs2520021391
NM_004035.7(ACOX1):c.710A>G (p.Asn237Ser) rs1567876984
NM_004044.7(ATIC):c.131delinsGCA (p.Ala44fs) rs2105985030
NM_004068.4(AP2M1):c.508C>T (p.Arg170Trp) rs1577059692
NM_004092.4(ECHS1):c.123_124del (p.Gly42fs) rs746519257
NM_004113.6(FGF12):c.148G>A (p.Gly50Ser) rs1553798675
NM_004168.4(SDHA):c.-1C>T rs560932680
NM_004168.4(SDHA):c.554dup (p.Ala186fs) rs1173940446
NM_004183.4(BEST1):c.1514_1515del (p.Val505fs) rs752521456
NM_004183.4(BEST1):c.1566_1576dup (p.His526delinsProTer) rs1389863115
NM_004183.4(BEST1):c.889C>T (p.Pro297Ser) rs1805143
NM_004204.5(PIGQ):c.1199_1201del (p.Tyr400del) rs766667249
NM_004208.4(AIFM1):c.506C>T (p.Pro169Leu) rs2030801584
NM_004211.5(SLC6A5):c.677del (p.Gly226fs) rs2494100057
NM_004260.4(RECQL4):c.1237_1238delinsAG (p.Ala413Arg) rs587778652
NM_004260.4(RECQL4):c.2086C>A (p.Arg696Ser) rs531970883
NM_004281.4(BAG3):c.212G>T (p.Arg71Leu) rs35434411
NM_004281.4(BAG3):c.467C>G (p.Ala156Gly) rs572038196
NM_004281.4(BAG3):c.534C>G (p.Asp178Glu) rs1847160690
NM_004281.4(BAG3):c.625C>T (p.Pro209Ser) rs1589630141
NM_004287.5(GOSR2):c.22dup (p.Thr8fs) rs746855352
NM_004304.5(ALK):c.2577G>C (p.Glu859Asp) rs61754865
NM_004320.6(ATP2A1):c.1672_1673dup (p.Leu559fs) rs1433893346
NM_004320.6(ATP2A1):c.2464del (p.Arg822fs) rs751365374
NM_004320.6(ATP2A1):c.2574C>A (p.Tyr858Ter) rs368234110
NM_004320.6(ATP2A1):c.324+1G>A rs1963456518
NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser) rs397507475
NM_004333.6(BRAF):c.83GCGCCG[2] (p.28GA[2]) rs397507458
NM_004360.5(CDH1):c.1901C>T (p.Ala634Val) rs121964878
NM_004360.5(CDH1):c.2276G>C (p.Gly759Ala) rs945866627
NM_004360.5(CDH1):c.532-1G>C rs771085839
NM_004360.5(CDH1):c.760G>A (p.Asp254Asn) rs1555515445
NM_004369.4(COL6A3):c.2729C>T (p.Thr910Met) rs189356869
NM_004369.4(COL6A3):c.4835C>A (p.Ser1612Ter) rs201532239
NM_004369.4(COL6A3):c.6199G>A (p.Glu2067Lys) rs760446904
NM_004369.4(COL6A3):c.6230G>A (p.Gly2077Asp) rs1553553646
NM_004369.4(COL6A3):c.6489C>G (p.Asp2163Glu) rs758376967
NM_004369.4(COL6A3):c.6692G>T (p.Gly2231Val) rs764811525
NM_004369.4(COL6A3):c.7264C>T (p.Arg2422Ter) rs878854379
NM_004369.4(COL6A3):c.761del (p.Gly254fs) rs780921503
NM_004369.4(COL6A3):c.9193C>T (p.Gln3065Ter) rs886043992
NM_004370.5(COL12A1):c.7356del rs1473576494
NM_004380.3(CREBBP):c.3205G>T (p.Gly1069Cys) rs555109138
NM_004380.3(CREBBP):c.5614A>G (p.Met1872Val) rs797045037
NM_004380.3(CREBBP):c.6384_6401del (p.Gln2128_Met2133del) rs772003652
NM_004380.3(CREBBP):c.6624_6635del (p.Gln2213_Gln2216del) rs763108828
NM_004387.4(NKX2-5):c.739C>G (p.Pro247Ala) rs780348618
NM_004408.4(DNM1):c.1810G>A (p.Glu604Lys) rs1588449811
NM_004444.5(EPHB4):c.896C>G (p.Ser299Ter) rs964985310
NM_004453.4(ETFDH):c.1487T>C (p.Leu496Pro) rs863224869
NM_004453.4(ETFDH):c.398_402del (p.Glu133fs) rs2150305310
NM_004453.4(ETFDH):c.405+3A>G rs796051965
NM_004453.4(ETFDH):c.587C>A (p.Pro196His)
NM_004456.5(EZH2):c.620G>A (p.Arg207Gln)
NM_004463.3(FGD1):c.527dup (p.Leu177fs) rs756586058
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys) rs796052676
NM_004523.4(KIF11):c.2830C>T (p.Arg944Cys) rs387906642
NM_004544.4(NDUFA10):c.604dup (p.His202fs) rs746019378
NM_004586.3(RPS6KA3):c.1603-5A>G rs1569194162
NM_004586.3(RPS6KA3):c.2185C>T (p.Arg729Trp) rs1555924331
NM_004606.5(TAF1):c.3676C>T (p.Arg1226Trp) rs864321629
NM_004612.4(TGFBR1):c.763C>T (p.Arg255Cys) rs1588585570
NM_004628.5(XPC):c.1872+1G>C rs1559374923
NM_004628.5(XPC):c.2152C>T (p.Arg718Ter) rs754775337
NM_004628.5(XPC):c.413-24A>G rs794729657
NM_004629.2(FANCG):c.1158dup (p.Ser387fs) rs757418016
NM_004629.2(FANCG):c.1528C>T (p.Gln510Ter) rs1829056657
NM_004643.4(PABPN1):c.24AGC[4] (p.Ala11_Gly12insAla) rs1401656265
NM_004643.4(PABPN1):c.35G>C (p.Gly12Ala) rs104894466
NM_004646.4(NPHS1):c.1020del (p.Ser341fs) rs1555763372
NM_004646.4(NPHS1):c.2404C>T (p.Arg802Trp) rs386833911
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs) rs386833935
NM_004646.4(NPHS1):c.515_517del (p.Thr172del) rs386833947
NM_004655.4(AXIN2):c.629T>C (p.Met210Thr) rs529954883
NM_004656.4(BAP1):c.1201_1212del (p.Tyr401_Asp404del) rs776606194
NM_004699.4(FAM50A):c.634C>T (p.Arg212Trp) rs2523042827
NM_004738.5(VAPB):c.476CTT[1] (p.Ser160del) rs566283411
NM_004782.4(SNAP29):c.354dup (p.Leu119fs) rs751575036
NM_004817.4(TJP2):c.1444del (p.Asp482fs) rs727503479
NM_004826.4(ECEL1):c.367T>C (p.Cys123Arg) rs2469652231
NM_004863.4(SPTLC2):c.778G>A (p.Glu260Lys) rs2079620247
NM_004958.4(MTOR):c.7216G>A (p.Val2406Met) rs1557739557
NM_004959.5(NR5A1):c.938G>A (p.Arg313His) rs1554721235
NM_004963.4(GUCY2C):c.784C>T (p.Arg262Ter) rs762829348
NM_004974.4(KCNA2):c.1214C>T (p.Pro405Leu) rs876657389
NM_004975.4(KCNB1):c.2129G>A (p.Cys710Tyr) rs764306025
NM_004975.4(KCNB1):c.917G>A (p.Arg306His) rs1984262011
NM_004984.4(KIF5A):c.2053A>G (p.Lys685Glu) rs1177916529
NM_004984.4(KIF5A):c.2065A>G (p.Thr689Ala) rs1465463508
NM_004984.4(KIF5A):c.611G>A (p.Arg204Gln) rs387907287
NM_004985.5(KRAS):c.179G>T (p.Gly60Val) rs727503108
NM_004999.4(MYO6):c.1983+1G>A rs2149321922
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg) rs587776934
NM_005032.7(PLS3):c.1290dup (p.Gln431fs) rs2147585558
NM_005035.4(POLRMT):c.2225_2242del (p.Pro742_Pro747del) rs748846799
NM_005051.3(QARS1):c.1058G>T (p.Gly353Val) rs752600100
NM_005052.3(RAC3):c.176C>G (p.Ala59Gly) rs1379395211
NM_005055.5(RAPSN):c.272G>T (p.Arg91Leu) rs375218091
NM_005076.5(CNTN2):c.418C>T (p.Arg140Ter) rs779892361
NM_005120.3(MED12):c.1561C>T (p.Arg521Cys) rs1602295979
NM_005120.3(MED12):c.2735C>T (p.Ser912Leu) rs2147797835
NM_005120.3(MED12):c.6336_6362del (p.Gln2115_Gln2123del) rs1353930135
NM_005157.6(ABL1):c.2417C>T (p.Pro806Leu) rs147510280
NM_005169.4(PHOX2A):c.215C>T (p.Ala72Val) rs104894269
NM_005188.4(CBL):c.1296T>C (p.Asp432=) rs1188095865
NM_005188.4(CBL):c.1470A>G (p.Gln490=) rs1949969576
NM_005208.5(CRYBA1):c.500+1G>T rs775038545
NM_005214.5(CTLA4):c.654T>A (p.Tyr218Ter) rs778114608
NM_005215.4(DCC):c.437_440del (p.Thr146fs) rs2039877071
NM_005219.5(DIAPH1):c.1821TCC[7] (p.Pro617_Pro620del) rs3075570
NM_005249.5(FOXG1):c.701C>T (p.Ser234Phe) rs1555321334
NM_005257.6(GATA6):c.1367G>A (p.Arg456His) rs387906819
NM_005260.7(GDF9):c.783del (p.Ser262fs) rs1216260561
NM_005267.5(GJA8):c.151G>A (p.Asp51Asn) rs864309703
NM_005267.5(GJA8):c.263C>T (p.Pro88Leu) rs782199122
NM_005343.4(HRAS):c.37G>C (p.Gly13Arg) rs104894228
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413
NM_005419.4(STAT2):c.1466C>T (p.Pro489Leu) rs138681270
NM_005422.4(TECTA):c.3526_3539del (p.Tyr1176fs) rs754681578
NM_005431.2(XRCC2):c.651_652del (p.Cys217_Asp218delinsTer) rs746142129
NM_005458.8(GABBR2):c.1724C>A (p.Thr575Asn) rs2491384090
NM_005458.8(GABBR2):c.240C>A (p.Ala80=) rs753673862
NM_005458.8(GABBR2):c.33GCC[7] (p.Pro20dup) rs751111546
NM_005476.7(GNE):c.1798G>A (p.Ala600Thr) rs387906347
NM_005476.7(GNE):c.1915C>T (p.Gln639Ter) rs886042195
NM_005476.7(GNE):c.211A>T (p.Arg71Trp) rs886044539
NM_005476.7(GNE):c.484C>T (p.Arg162Cys) rs769215411
NM_005476.7(GNE):c.5A>G (p.Glu2Gly) rs1830025657
NM_005476.7(GNE):c.893T>C (p.Ile298Thr) rs757091387
NM_005529.7(HSPG2):c.10204G>A (p.Val3402Met) rs150666616
NM_005529.7(HSPG2):c.3119_3120dup (p.His1041fs) rs1227714952
NM_005529.7(HSPG2):c.3892C>T (p.Gln1298Ter) rs1393101824
NM_005529.7(HSPG2):c.6831A>G (p.Thr2277=) rs746413398
NM_005529.7(HSPG2):c.770G>C (p.Arg257Pro) rs149319607
NM_005529.7(HSPG2):c.8609G>A (p.Arg2870Gln) rs111846397
NM_005535.3(IL12RB1):c.599del (p.Leu200fs) rs1169002203
NM_005562.3(LAMC2):c.508C>T (p.Arg170Ter) rs781458974
NM_005585.5(SMAD6):c.818-1G>A rs952876781
NM_005591.4(MRE11):c.1090C>T (p.Arg364Ter) rs371077728
NM_005591.4(MRE11):c.1726C>T (p.Arg576Ter) rs774277300
NM_005591.4(MRE11):c.630G>C (p.Trp210Cys) rs137852763
NM_005592.4(MUSK):c.2365G>A (p.Gly789Ser) rs1057518966
NM_005609.4(PYGM):c.1507del (p.Val503fs) rs1272600960
NM_005609.4(PYGM):c.1620+1G>A rs1256894448
NM_005609.4(PYGM):c.2125TTC[1] (p.Phe710del) rs527236147
NM_005609.4(PYGM):c.2262del (p.Lys754fs) rs398124210
NM_005609.4(PYGM):c.2379+2_2379+3delinsAT rs2135823216
NM_005609.4(PYGM):c.2380-1G>A rs1555133248
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg) rs119103258
NM_005609.4(PYGM):c.255C>A (p.Tyr85Ter) rs527236146
NM_005609.4(PYGM):c.403G>C (p.Gly135Arg) rs780246932
NM_005609.4(PYGM):c.415C>T (p.Arg139Trp) rs367990192
NM_005609.4(PYGM):c.517G>A (p.Gly173Arg) rs141265458
NM_005629.4(SLC6A8):c.1136_1137del (p.Glu379fs) rs2522163743
NM_005633.4(SOS1):c.1649T>C (p.Leu550Pro) rs397517153
NM_005633.4(SOS1):c.2197A>T (p.Ile733Phe) rs574088829
NM_005633.4(SOS1):c.805A>G (p.Met269Val) rs1671005559
NM_005634.3(SOX3):c.14G>C (p.Arg5Pro) rs112180170
NM_005670.4(EPM2A):c.163C>T (p.Gln55Ter) rs187930476
NM_005677.4(COLQ):c.379C>T (p.Arg127Ter) rs143766249
NM_005677.4(COLQ):c.955-2A>T rs1172409117
NM_005732.4(RAD50):c.1174_1177del (p.Gln392fs) rs1554098250
NM_005732.4(RAD50):c.1270_1271del (p.Leu424fs) rs587781327
NM_005732.4(RAD50):c.1620_1621insAG (p.Leu541fs) rs764968413
NM_005732.4(RAD50):c.1722dup (p.Gln575fs) rs587782543
NM_005732.4(RAD50):c.1875C>G (p.Tyr625Ter) rs149201802
NM_005732.4(RAD50):c.2202del (p.Pro734_Met735insTer) rs786201789
NM_005732.4(RAD50):c.2467C>T (p.Arg823Ter) rs1060501936
NM_005732.4(RAD50):c.2789_2792del (p.Ile930fs) rs587781930
NM_005732.4(RAD50):c.3209del (p.Asn1070fs) rs786202187
NM_005857.5(ZMPSTE24):c.951_954+2del rs747563189
NM_005859.5(PURA):c.1A>G (p.Met1Val) rs793888530
NM_005859.5(PURA):c.691TTC[2] (p.Phe233del) rs786204835
NM_005876.5(SPEG):c.8965_8989dup (p.Val2997fs) rs1575201712
NM_005901.6(SMAD2):c.358C>T (p.Arg120Ter) rs1305523001
NM_005908.4(MANBA):c.177+2T>C rs779221957
NM_005912.3(MC4R):c.811T>C (p.Cys271Arg) rs1057517991
NM_005912.3(MC4R):c.947T>G (p.Ile316Ser) rs121913564
NM_006019.4(TCIRG1):c.1228G>A (p.Gly410Arg) rs775902505
NM_006019.4(TCIRG1):c.1555-2A>C rs758977199
NM_006019.4(TCIRG1):c.196+1G>T rs2134432498
NM_006031.6(PCNT):c.9535dup (p.Val3179fs) rs747058622
NM_006063.3(KLHL41):c.1416dup (p.Gly473fs) rs749464576
NM_006063.3(KLHL41):c.215del (p.Lys72fs) rs775513051
NM_006086.4(TUBB3):c.292G>A (p.Gly98Ser) rs587784505
NM_006087.4(TUBB4A):c.745G>A (p.Asp249Asn) rs483352809
NM_006178.4(NSF):c.1688C>G (p.Pro563Arg) rs2146266663
NM_006180.6(NTRK2):c.211A>G (p.Ile71Val) rs1169880026
NM_006231.4(POLE):c.1707C>G (p.Phe569Leu) rs147438050
NM_006231.4(POLE):c.4645C>G (p.Pro1549Ala) rs147500308
NM_006231.4(POLE):c.52G>T (p.Glu18Ter) rs1555231403
NM_006245.4(PPP2R5D):c.598G>A (p.Glu200Lys) rs863225079
NM_006245.4(PPP2R5D):c.751G>A (p.Asp251Asn) rs1762178916
NM_006245.4(PPP2R5D):c.752A>T (p.Asp251Val) rs1064794719
NM_006261.5(PROP1):c.301_302del (p.Leu102fs) rs193922688
NM_006265.3(RAD21):c.1753T>C (p.Cys585Arg) rs387907213
NM_006269.2(RP1):c.3428del (p.Asn1143fs) rs1806088809
NM_006280.3(SSR4):c.417+1G>A rs1057518735
NM_006296.7(VRK2):c.*102_*105dup rs759217526
NM_006415.4(SPTLC1):c.112CTT[1] (p.Leu39del) rs1197928094
NM_006493.4(CLN5):c.173+5G>A rs2034192763
NM_006493.4(CLN5):c.187del (p.Arg63fs) rs1555273881
NM_006493.4(CLN5):c.466C>T (p.Pro156Ser) rs386833977
NM_006493.4(CLN5):c.510_514dup (p.Asp172fs) rs1555274005
NM_006493.4(CLN5):c.956_959del (p.Lys319fs) rs386833967
NM_006493.4(CLN5):c.958C>T (p.Gln320Ter) rs750935331
NM_006516.4(SLC2A1):c.1303ATC[1] (p.Ile436del) rs864309522
NM_006516.4(SLC2A1):c.1330TTC[1] (p.Phe445del) rs2524982356
NM_006580.4(CLDN16):c.485T>G (p.Phe162Cys) rs104893726
NM_006610.4(MASP2):c.1254_1261delinsCCTCACACACTC (p.Trp418fs) rs2521403568
NM_006623.4(PHGDH):c.488G>A (p.Arg163Gln) rs587777483
NM_006662.3(SRCAP):c.8257C>T (p.Arg2753Trp) rs1131691316
NM_006734.4(HIVEP2):c.272C>T (p.Pro91Leu) rs2482857854
NM_006734.4(HIVEP2):c.2827C>T (p.Arg943Ter) rs869312841
NM_006766.5(KAT6A):c.4645G>A (p.Gly1549Ser) rs1064794000
NM_006766.5(KAT6A):c.593A>C (p.Lys198Thr) rs200651017
NM_006766.5(KAT6A):c.949C>T (p.Arg317Ter) rs1554688879
NM_006767.4(LZTR1):c.1149+1G>A rs767191322
NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys) rs747430075
NM_006767.4(LZTR1):c.1472del (p.Pro491fs) rs775362512
NM_006767.4(LZTR1):c.2113C>T (p.Gln705Ter) rs778396468
NM_006767.4(LZTR1):c.2303dup (p.Thr769fs) rs1231204217
NM_006767.4(LZTR1):c.400+1G>A rs1555927561
NM_006767.4(LZTR1):c.509G>T (p.Arg170Leu) rs781431741
NM_006767.4(LZTR1):c.677dup (p.Ser227fs) rs777054968
NM_006767.4(LZTR1):c.791+1G>A rs148031742
NM_006767.4(LZTR1):c.993+1G>T rs770368435
NM_006772.3(SYNGAP1):c.1167_1168del (p.Gly391fs) rs1060503378
NM_006772.3(SYNGAP1):c.1717C>T (p.Arg573Trp) rs1064795331
NM_006772.3(SYNGAP1):c.2945A>G (p.Tyr982Cys) rs2151189482
NM_006772.3(SYNGAP1):c.3322_3323del (p.Ser1108fs) rs1581997098
NM_006790.3(MYOT):c.116C>T (p.Ser39Phe) rs121908461
NM_006790.3(MYOT):c.343G>T (p.Ala115Ser) rs114194130
NM_006796.3(AFG3L2):c.1219G>A (p.Asp407Asn) rs2143171648
NM_006852.6(TLK2):c.1550+1G>A rs2147105351
NM_006852.6(TLK2):c.364C>T (p.Arg122Ter) rs1567870541
NM_006854.4(KDELR2):c.398C>T (p.Pro133Leu) rs1785501859
NM_006887.5(ZFP36L2):c.922_930del (p.Ser308_Ser310del) rs150534134
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly) rs672601334
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly) rs869025193
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_006939.4(SOS2):c.3134A>G (p.His1045Arg)
NM_006946.4(SPTBN2):c.5630dup (p.Ile1878fs) rs2495858678
NM_006949.4(STXBP2):c.1538+12G>C rs748313252
NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser) rs61736587
NM_006949.4(STXBP2):c.474_483delinsGA (p.Cys158fs) rs1599397070
NM_006950.3(SYN1):c.528-2A>T rs1556860663
NM_007035.4(KERA):c.1026del (p.Cys343fs) rs386833984
NM_007055.4(POLR3A):c.1771-7C>G rs201314157
NM_007055.4(POLR3A):c.2988+1G>A rs201733323
NM_007055.4(POLR3A):c.3206G>A (p.Arg1069Gln) rs778985686
NM_007118.4(TRIO):c.6877GGC[7] (p.Gly2298dup) rs749785358
NM_007118.4(TRIO):c.7050del (p.Val2351fs) rs746654944
NM_007118.4(TRIO):c.7136C>G (p.Pro2379Arg) rs781081298
NM_007118.4(TRIO):c.7379C>T (p.Pro2460Leu) rs771188369
NM_007126.5(VCP):c.1106T>C (p.Ile369Thr) rs1828723406
NM_007126.5(VCP):c.476G>A (p.Arg159His) rs121909335
NM_007126.5(VCP):c.572G>A (p.Arg191Gln) rs121909334
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter) rs371418985
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1]) rs587780181
NM_007194.4(CHEK2):c.444+2T>C rs560596101
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter) rs536907995
NM_007194.4(CHEK2):c.591del (p.Val198fs) rs587782245
NM_007215.4(POLG2):c.417A>G (p.Leu139=) rs1555669550
NM_007215.4(POLG2):c.796-2A>G rs2144187906
NM_007215.4(POLG2):c.873C>G (p.Tyr291Ter) rs1555668353
NM_007217.4(PDCD10):c.584dup (p.Asn195fs) rs1559941903
NM_007254.4(PNKP):c.1295_1298+6del rs587784366
NM_007254.4(PNKP):c.1360C>A (p.Leu454Met) rs200611702
NM_007255.3(B4GALT7):c.277dup (p.His93fs) rs879255634
NM_007289.4(MME):c.467del (p.Pro156fs) rs749320057
NM_007294.4(BRCA1):c.1049_1050del (p.Arg350fs) rs886039925
NM_007294.4(BRCA1):c.1789G>T (p.Glu597Ter) rs55650082
NM_007294.4(BRCA1):c.190T>C (p.Cys64Arg) rs80357064
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly) rs80357382
NM_007294.4(BRCA1):c.2199del (p.Lys734fs) rs80357944
NM_007294.4(BRCA1):c.2709_2710del (p.Cys903_Glu904delinsTer) rs886040065
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter) rs80356978
NM_007294.4(BRCA1):c.3066del (p.Thr1022_Val1023insTer) rs786202906
NM_007294.4(BRCA1):c.3328_3330del (p.Lys1110del) rs80358335
NM_007294.4(BRCA1):c.3612del (p.Ala1206fs) rs80357980
NM_007294.4(BRCA1):c.411dup (p.Leu138fs) rs886040205
NM_007294.4(BRCA1):c.442C>T (p.Gln148Ter) rs876659614
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter) rs80356885
NM_007294.4(BRCA1):c.4675+1G>A rs80358044
NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly) rs80356862
NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del) rs80358343
NM_007294.4(BRCA1):c.5035del (p.Asn1678_Leu1679insTer) rs80357896
NM_007294.4(BRCA1):c.5072C>T (p.Thr1691Ile) rs80357034
NM_007294.4(BRCA1):c.5216A>G (p.Asp1739Gly) rs80357227
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.5363G>A (p.Gly1788Asp) rs80357069
NM_007294.4(BRCA1):c.5434C>G (p.Pro1812Ala) rs1800751
NM_007294.4(BRCA1):c.66dup (p.Glu23fs) rs80357783
NM_007294.4(BRCA1):c.81-2A>C rs397509326
NM_007317.3(KIF22):c.446G>A (p.Arg149Gln) rs193922922
NM_007375.4(TARDBP):c.892G>A (p.Gly298Ser) rs4884357
NM_012062.5(DNM1L):c.25_28delinsCACT (p.Asn9_Lys10delinsHisTer) rs1555229978
NM_012079.6(DGAT1):c.629_631del (p.Ser210del) rs782577883
NM_012193.4(FZD4):c.1282_1285del (p.Asp428fs) rs80358295
NM_012193.4(FZD4):c.1501_1502del (p.Leu501fs) rs80358303
NM_012200.4(B3GAT3):c.334G>T (p.Glu112Ter) rs1943052192
NM_012203.2(GRHPR):c.344C>A (p.Ala115Glu) rs2489236019
NM_012203.2(GRHPR):c.540del (p.Leu181fs) rs180177315
NM_012210.4(TRIM32):c.1108del (p.Met370fs) rs759376012
NM_012213.3(MLYCD):c.929G>A (p.Arg310Gln) rs146465073
NM_012233.3(RAB3GAP1):c.2800C>T (p.Pro934Ser) rs77535003
NM_012243.3(SLC35A3):c.826_827del (p.Leu276fs) rs747536139
NM_012472.6(DNAAF11):c.574C>G (p.Gln192Glu) rs141945265
NM_012472.6(DNAAF11):c.79_80del (p.Ser27fs) rs769220870
NM_012479.4(YWHAG):c.395G>A (p.Arg132His) rs1583981615
NM_013275.6(ANKRD11):c.3783C>G (p.Asp1261Glu) rs1294714307
NM_013275.6(ANKRD11):c.5227C>T (p.Gln1743Ter) rs2151745705
NM_013275.6(ANKRD11):c.6982dup (p.Arg2328fs) rs1555525088
NM_013275.6(ANKRD11):c.7534C>T (p.Arg2512Trp) rs2033536147
NM_013275.6(ANKRD11):c.7825C>T (p.Gln2609Ter) rs797044900
NM_013328.4(PYCR2):c.595C>T (p.Arg199Trp) rs758595075
NM_013335.4(GMPPA):c.545G>A (p.Gly182Asp) rs397518462
NM_013339.4(ALG6):c.1018del (p.Ser340fs) rs1269984067
NM_013382.7(POMT2):c.1658dup (p.Asn553fs) rs886043110
NM_013382.7(POMT2):c.333+1G>A rs1318210394
NM_014000.3(VCL):c.2862_2864del (p.Leu955del) rs397517237
NM_014049.5(ACAD9):c.359del (p.Phe120fs) rs863224844
NM_014140.4(SMARCAL1):c.886del (p.Thr296fs) rs2469620696
NM_014141.6(CNTNAP2):c.286A>G (p.Ser96Gly) rs540745201
NM_014141.6(CNTNAP2):c.3262C>T (p.Arg1088Ter) rs766777011
NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp) rs1057523157
NM_014159.7(SETD2):c.6970G>T (p.Ala2324Ser) rs1162711197
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys) rs1555582065
NM_014252.4(SLC25A15):c.446del (p.Ser149fs) rs1566123619
NM_014252.4(SLC25A15):c.554_557del (p.Phe185fs) rs1882233400
NM_014252.4(SLC25A15):c.658G>A (p.Gly220Arg) rs202247805
NM_014334.4(FRRS1L):c.486C>A (p.Cys162Ter) rs779716535
NM_014339.7(IL17RA):c.1955C>G (p.Pro652Arg) rs369723943
NM_014362.4(HIBCH):c.410C>T (p.Ala137Val) rs1114167288
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter) rs752059006
NM_014363.6(SACS):c.3484G>T (p.Glu1162Ter) rs1246013998
NM_014363.6(SACS):c.8793del (p.Lys2931fs) rs767871841
NM_014458.4(KLHL20):c.1069G>A (p.Gly357Arg) rs1673582111
NM_014458.4(KLHL20):c.971G>A (p.Gly324Asp) rs2525470752
NM_014625.4(NPHS2):c.167del (p.Glu56fs) rs1558355124
NM_014625.4(NPHS2):c.353C>T (p.Pro118Leu) rs869025495
NM_014625.4(NPHS2):c.467dup (p.Leu156fs) rs528833893
NM_014625.4(NPHS2):c.855_856del (p.Arg286fs) rs749740335
NM_014704.4(CEP104):c.1891C>T (p.Arg631Ter) rs1644169357
NM_014712.3(SETD1A):c.2843G>A (p.Arg948Gln) rs149618545
NM_014727.3(KMT2B):c.1790C>T (p.Pro597Leu) rs749549494
NM_014727.3(KMT2B):c.1992G>A (p.Ser664=)
NM_014795.4(ZEB2):c.3046C>T (p.Arg1016Ter) rs886041989
NM_014795.4(ZEB2):c.82_87del (p.Tyr28_Asp29del) rs730881214
NM_014795.4(ZEB2):c.904C>T (p.Arg302Ter) rs587784571
NM_014855.3(AP5Z1):c.969+3_969+6dup rs748280348
NM_014874.4(MFN2):c.1252C>T (p.Arg418Ter) rs1057517987
NM_014874.4(MFN2):c.2219G>C (p.Trp740Ser) rs28940292
NM_014875.3(KIF14):c.2609_2610del (p.Tyr870fs)
NM_014946.4(SPAST):c.1484C>T (p.Ala495Val) rs1553318347
NM_014946.4(SPAST):c.871-1G>A rs1057524526
NM_014956.5(CEP164):c.380C>T (p.Pro127Leu) rs143659874
NM_014989.7(RIMS1):c.3139del (p.Thr1047fs) rs587783021
NM_015021.3(ZNF292):c.6160_6161del (p.Glu2054fs) rs1301328139
NM_015047.3(EMC1):c.2300G>T (p.Gly767Val) rs766820627
NM_015087.5(SPART):c.988A>G (p.Met330Val) rs1399213398
NM_015166.4(MLC1):c.849del (p.Ile283_Met284insTer) rs2518488079
NM_015178.3(RHOBTB2):c.1382G>A (p.Arg461His) rs1554504663
NM_015214.3(DDHD2):c.371del (p.Lys124fs) rs1475369039
NM_015295.3(SMCHD1):c.4267C>T (p.Arg1423Ter) rs2510122804
NM_015330.6(SPECC1L):c.362C>T (p.Ser121Phe) rs575022840
NM_015335.5(MED13L):c.1010G>A (p.Gly337Asp) rs2499932052
NM_015335.5(MED13L):c.2590A>T (p.Met864Leu) rs886039599
NM_015338.6(ASXL1):c.1934dup (p.Gly646fs) rs750318549
NM_015338.6(ASXL1):c.2895AGG[1] (p.Gly967del) rs762939072
NM_015346.4(ZFYVE26):c.2338C>T (p.Arg780Ter) rs941230062
NM_015346.4(ZFYVE26):c.2554-1G>C rs760559263
NM_015443.4(KANSL1):c.1774C>T (p.Arg592Trp) rs774841964
NM_015443.4(KANSL1):c.2458A>G (p.Ser820Gly) rs1355589929
NM_015443.4(KANSL1):c.3031C>T (p.Arg1011Ter) rs779686052
NM_015506.3(MMACHC):c.2T>C (p.Met1Thr) rs574983400
NM_015506.3(MMACHC):c.310_313del (p.Asp104fs) rs1311416761
NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del) rs796051998
NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp) rs140522266
NM_015506.3(MMACHC):c.445_446del (p.Cys149fs) rs796051999
NM_015506.3(MMACHC):c.617G>C (p.Arg206Pro) rs371753672
NM_015506.3(MMACHC):c.743C>G (p.Pro248Arg) rs564280688
NM_015506.3(MMACHC):c.766_771del (p.Ala256_Pro257del) rs796064513
NM_015506.3(MMACHC):c.81+1G>C rs745366624
NM_015506.3(MMACHC):c.848G>T (p.Ter283Leu) rs201025783
NM_015559.3(SETBP1):c.1631G>C (p.Arg544Pro) rs201672132
NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr) rs267607038
NM_015559.3(SETBP1):c.4393G>T (p.Asp1465Tyr) rs766119511
NM_015570.4(AUTS2):c.1527C>A (p.Asp509Glu) rs2484682116
NM_015570.4(AUTS2):c.1603_1626del (p.531HQHT[1]) rs1789934246
NM_015570.4(AUTS2):c.376C>T (p.Arg126Ter) rs1562957809
NM_015599.3(PGM3):c.378dup (p.Arg127Ter) rs2128506370
NM_015627.3(LDLRAP1):c.143del (p.Phe48fs) rs868193249
NM_015627.3(LDLRAP1):c.402del (p.Ser135fs) rs2044223568
NM_015627.3(LDLRAP1):c.439del (p.Leu147fs) rs758321083
NM_015627.3(LDLRAP1):c.71dup (p.Gly25fs) rs1201229554
NM_015662.3(IFT172):c.4607T>C (p.Leu1536Pro) rs587777080
NM_015909.4(NBAS):c.3970C>T (p.Gln1324Ter)
NM_015915.5(ATL1):c.1226G>A (p.Gly409Asp) rs2039539644
NM_015915.5(ATL1):c.757G>A (p.Val253Ile) rs864622520
NM_015915.5(ATL1):c.776C>T (p.Ser259Phe) rs119476047
NM_015937.6(PIGT):c.1043dup (p.Val349fs) rs749895437
NM_016023.5(OTUD6B):c.192_195del (p.Glu65fs) rs748735420
NM_016035.5(COQ4):c.402+1G>A rs747779231
NM_016038.4(SBDS):c.305_308del (p.Thr102fs) rs745661722
NM_016070.4(MRPS23):c.119C>T (p.Pro40Leu) rs772721937
NM_016180.5(SLC45A2):c.478G>C (p.Asp160His) rs760780597
NM_016213.5(TRIP4):c.1387C>A (p.His463Asn) rs375004645
NM_016213.5(TRIP4):c.180del (p.Gly61fs) rs1446427502
NM_016247.4(IMPG2):c.2274G>A (p.Trp758Ter) rs786205564
NM_016284.5(CNOT1):c.4654C>T (p.Arg1552Trp) rs2040115763
NM_016335.6(PRODH):c.850-10A>G rs535186636
NM_016341.4(PLCE1):c.6901C>T (p.Arg2301Ter) rs1193230553
NM_016356.5(DCDC2):c.383C>G (p.Ser128Ter) rs904520404
NM_016373.4(WWOX):c.1204G>T (p.Glu402Ter) rs200839945
NM_016373.4(WWOX):c.553_566del (p.Ala185fs) rs759794876
NM_016464.5(TMEM138):c.287A>G (p.His96Arg) rs387907132
NM_016630.7(SPG21):c.153del (p.Val52fs) rs2140441397
NM_016648.4(LARP7):c.1091_1094del (p.Lys364fs) rs775657157
NM_016648.4(LARP7):c.297_303+2del rs2149262033
NM_016938.5(EFEMP2):c.608A>C (p.Asp203Ala) rs193302864
NM_017415.3(KLHL3):c.1582C>T (p.Arg528Cys) rs199469635
NM_017534.6(MYH2):c.3517C>A (p.Arg1173=) rs767243766
NM_017534.6(MYH2):c.5673+1G>C rs1400481053
NM_017654.4(SAMD9):c.1800_1801del (p.Glu600fs) rs375515095
NM_017654.4(SAMD9):c.4408C>T (p.His1470Tyr) rs2116412345
NM_017777.4(MKS1):c.1066C>T (p.Gln356Ter) rs786205508
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs) rs386834044
NM_017807.4(OSGEP):c.839G>A (p.Arg280His) rs144732839
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del) rs768422260
NM_017909.4(RMND1):c.1349G>C (p.Ter450Ser) rs115079861
NM_017909.4(RMND1):c.583G>A (p.Gly195Arg) rs776083030
NM_017946.4(FKBP14):c.362dup (p.Glu122fs) rs542489955
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_018076.5(ODAD2):c.2800-2A>G rs1297261096
NM_018116.4(MSTO1):c.1259del (p.Gly420fs) rs1248439783
NM_018117.12(WDR11):c.3033_3036del rs760973100
NM_018127.7(ELAC2):c.591G>A (p.Trp197Ter) rs1359575116
NM_018136.5(ASPM):c.6686_6689del (p.Arg2229fs) rs770540184
NM_018136.5(ASPM):c.7125_7128dup (p.Gln2377fs) rs587783263
NM_018136.5(ASPM):c.8506_8507del (p.Gln2836fs) rs587783280
NM_018249.6(CDK5RAP2):c.4207C>T (p.Arg1403Ter) rs754282058
NM_018297.4(NGLY1):c.1764_1785del (p.Asp588fs) rs2125442722
NM_018368.4(LMBRD1):c.967_970del (p.Leu323fs) rs771477094
NM_018389.5(SLC35C1):c.503_505del (p.Phe168del) rs587777655
NM_018418.5(SPATA7):c.20_23delTCAG rs527236050
NM_018451.5(CPAP):c.568+7T>G rs1258929370
NM_018480.7(TMEM126B):c.320_321del (p.Tyr107fs) rs752316853
NM_018489.3(ASH1L):c.466G>A (p.Glu156Lys) rs866370455
NM_018713.3(SLC30A10):c.1006C>T (p.His336Tyr) rs770740586
NM_018834.6(MATR3):c.2318A>C (p.Tyr773Ser) rs368217486
NM_018834.6(MATR3):c.254C>G (p.Ser85Cys) rs121434591
NM_018972.4(GDAP1):c.694+1G>A rs1183978180
NM_019032.6(ADAMTSL4):c.1213C>T (p.Gln405Ter)
NM_019032.6(ADAMTSL4):c.2270del (p.Gly757fs) rs747160538
NM_019032.6(ADAMTSL4):c.426G>A (p.Ala142=) rs771709345
NM_019066.5(MAGEL2):c.1996C>T (p.Gln666Ter) rs752097874
NM_019096.5(GTPBP2):c.1236+1G>A rs1252019134
NM_019108.4(SMG9):c.701+4A>G rs869312742
NM_019109.5(ALG1):c.339C>G (p.Tyr113Ter) rs776990436
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_019597.5(HNRNPH2):c.617G>A (p.Arg206Gln) rs886039764
NM_019888.3(MC3R):c.429C>G (p.Tyr143Ter) rs148382606
NM_020041.3(SLC2A9):c.354dup (p.Ile119fs) rs772429581
NM_020166.5(MCCC1):c.1074del (p.Trp358fs) rs398124350
NM_020166.5(MCCC1):c.1205T>G (p.Leu402Ter) rs2108479136
NM_020166.5(MCCC1):c.2088dup (p.Val697fs) rs746267545
NM_020166.5(MCCC1):c.227_228del (p.Val76fs) rs1718431677
NM_020247.5(COQ8A):c.1747ACC[1] (p.Thr584del) rs387906299
NM_020247.5(COQ8A):c.1805C>A (p.Pro602Gln) rs61995958
NM_020297.4(ABCC9):c.3460C>T (p.Arg1154Trp) rs387907208
NM_020320.5(RARS2):c.1A>G (p.Met1Val) rs774923951
NM_020320.5(RARS2):c.474_477del (p.Glu159fs) rs774755297
NM_020320.5(RARS2):c.963_964del (p.Tyr322fs) rs773838753
NM_020376.4(PNPLA2):c.798dup (p.Ala267fs) rs1343828094
NM_020549.5(CHAT):c.1663G>T (p.Glu555Ter) rs757303526
NM_020549.5(CHAT):c.275C>G (p.Pro92Arg) rs372298555
NM_020549.5(CHAT):c.59_60del (p.Glu20fs) rs531450737
NM_020632.3(ATP6V0A4):c.292-1G>A rs776867749
NM_020680.4(SCYL1):c.1386+1G>T rs201581270
NM_020699.4(GATAD2B):c.1432C>T (p.Arg478Ter) rs761820222
NM_020708.5(SLC12A5):c.2452C>G (p.Pro818Ala) rs201268862
NM_020708.5(SLC12A5):c.2812C>T (p.Arg938Ter) rs2515653495
NM_020751.3(COG6):c.1167-24A>G rs730882236
NM_020800.3(IFT80):c.958-1G>T rs202051267
NM_020821.3(VPS13C):c.1193_1194del (p.Ile398fs) rs755656180
NM_020832.3(ZNF687):c.2810C>G (p.Pro937Arg) rs148402804
NM_020928.2(ZSWIM6):c.151GCG[8] (p.Ala55_Ala56dup) rs779283808
NM_020928.2(ZSWIM6):c.83GCG[8] (p.Gly32_Gly33dup) rs528020839
NM_020937.4(FANCM):c.2586_2589del (p.Lys863fs) rs768006618
NM_020937.4(FANCM):c.4859AAG[2] (p.Glu1622del) rs765421461
NM_020964.3(EPG5):c.5943-9_5943-5del rs773330060
NM_020975.6(RET):c.1146G>A (p.Gln382=) rs770637118
NM_020975.6(RET):c.1879+1G>A rs1588873476
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_020988.3(GNAO1):c.724-8G>A rs1085307876
NM_020988.3(GNAO1):c.904G>A (p.Ala302Thr) rs2143704776
NM_021072.4(HCN1):c.203GCG[8] (p.Gly74dup) rs747975797
NM_021075.4(NDUFV3):c.11C>G (p.Pro4Arg) rs77606940
NM_021095.4(SLC5A6):c.422_423del (p.Val141fs) rs749980819
NM_021800.3(DNAJC12):c.410_413del (p.Lys137fs) rs1443792358
NM_021830.5(TWNK):c.907C>T (p.Arg303Trp) rs1159929268
NM_021870.2(FGG):c.901C>T (p.Arg301Cys) rs121913087
NM_021871.4(FGA):c.922C>T (p.Arg308Ter) rs776817952
NM_021922.3(FANCE):c.929dup (p.Val311fs) rs587778337
NM_021957.4(GYS2):c.574C>T (p.Arg192Ter) rs150382575
NM_022041.4(GAN):c.626del (p.Ile209fs) rs1910429809
NM_022042.4(SLC26A1):c.213C>A (p.Gly71=) rs371616275
NM_022095.4(ZNF335):c.2744_2747del (p.Ser915fs) rs753460205
NM_022124.6(CDH23):c.1087del (p.Val363fs) rs747955135
NM_022124.6(CDH23):c.4495G>T (p.Ala1499Ser)
NM_022124.6(CDH23):c.4762C>T (p.Arg1588Trp) rs137937502
NM_022132.5(MCCC2):c.127C>T (p.Gln43Ter) rs2112251855
NM_022132.5(MCCC2):c.1567A>G (p.Ser523Gly) rs1459143051
NM_022132.5(MCCC2):c.181G>T (p.Glu61Ter) rs752593298
NM_022132.5(MCCC2):c.351_353del (p.Gly118del) rs758794885
NM_022356.4(P3H1):c.2154del (p.Glu719fs) rs752671524
NM_022437.3(ABCG8):c.1285A>G (p.Met429Val) rs147194762
NM_022455.5(NSD1):c.6013C>T (p.Arg2005Ter) rs587784173
NM_022455.5(NSD1):c.6349C>T (p.Arg2117Ter) rs587784190
NM_022455.5(NSD1):c.6455G>A (p.Arg2152Gln) rs587784200
NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His) rs147001633
NM_024105.4(ALG12):c.1001del (p.Asn334fs) rs759244819
NM_024301.5(FKRP):c.1083C>G (p.Tyr361Ter) rs1060502109
NM_024301.5(FKRP):c.313C>T (p.Gln105Ter) rs761821795
NM_024301.5(FKRP):c.928G>T (p.Glu310Ter) rs765885747
NM_024306.5(FA2H):c.103G>T (p.Asp35Tyr) rs121918217
NM_024306.5(FA2H):c.786+1G>A rs1567633766
NM_024312.5(GNPTAB):c.1906dup (p.Arg636fs) rs747789493
NM_024312.5(GNPTAB):c.2957G>C (p.Arg986Pro) rs776312538
NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs) rs34002892
NM_024339.5(THOC6):c.810+1G>A rs2072821846
NM_024514.5(CYP2R1):c.768dup (p.Leu257fs) rs1422405747
NM_024570.4(RNASEH2B):c.356A>G (p.Asp119Gly) rs786205483
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter) rs768443448
NM_024649.5(BBS1):c.47+1G>T rs1475257145
NM_024675.4(PALB2):c.109-12T>A rs774949203
NM_024675.4(PALB2):c.1553C>G (p.Ser518Ter) rs1060502805
NM_024675.4(PALB2):c.2832del (p.Arg945fs) rs1060499823
NM_024675.4(PALB2):c.3507_3508del (p.His1170fs) rs587776428
NM_024685.4(BBS10):c.1091del (p.Asn364fs) rs727503818
NM_024685.4(BBS10):c.1599_1602del (p.Thr534fs) rs770556842
NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter) rs375413604
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer) rs775950661
NM_024685.4(BBS10):c.445dup (p.Leu149fs) rs770053320
NM_024757.5(EHMT1):c.248A>G (p.Asp83Gly) rs770735510
NM_024757.5(EHMT1):c.2803G>A (p.Val935Met) rs762121901
NM_024757.5(EHMT1):c.324C>G (p.His108Gln) rs574402576
NM_024876.4(COQ8B):c.1430G>A (p.Arg477Gln) rs1057519347
NM_024915.4(GRHL2):c.21-2A>G rs1811191593
NM_024996.7(GFM1):c.56C>T (p.Ala19Val) rs567086019
NM_025074.7(FRAS1):c.6963_6964dup (p.Val2322fs) rs730882179
NM_025099.6(CTC1):c.1070_1074del (p.Ser357fs) rs773120259
NM_025099.6(CTC1):c.1A>C (p.Met1Leu) rs779499831
NM_025114.4(CEP290):c.2213del (p.Asn737_Leu738insTer) rs2137720951
NM_025114.4(CEP290):c.4704+1G>T rs1565835538
NM_025114.4(CEP290):c.7341dup (p.Leu2448fs) rs281865189
NM_025137.4(SPG11):c.276_285del (p.Arg93fs) rs747220413
NM_025137.4(SPG11):c.5989_5992del (p.Leu1997fs) rs312262776
NM_025150.5(TARS2):c.1578G>A (p.Trp526Ter)
NM_025233.7(COASY):c.1403_1404dup (p.Ile469Ter) rs560987504
NM_030632.3(ASXL3):c.1849_1850del (p.Ser617fs) rs1599563995
NM_030632.3(ASXL3):c.2160dup (p.Asp721Ter) rs2145414972
NM_030632.3(ASXL3):c.6078_6083del (p.Pro2027_Pro2028del) rs1235588816
NM_030773.4(TUBB1):c.779T>C (p.Phe260Ser) rs1057517996
NM_030787.4(CFHR5):c.486dup (p.Glu163fs) rs565457964
NM_031296.3(RAB33B):c.365T>C (p.Phe122Ser) rs1085307129
NM_031372.4(HNRNPDL):c.1132G>A (p.Asp378Asn) rs587777669
NM_031372.4(HNRNPDL):c.1132G>C (p.Asp378His) rs587777669
NM_031372.4(HNRNPDL):c.245G>T (p.Arg82Leu) rs200595389
NM_031372.4(HNRNPDL):c.324_341del (p.Arg109_Ala114del) rs760683509
NM_031372.4(HNRNPDL):c.92GGCCGC[3] (p.31RP[3]) rs1447722708
NM_031407.7(HUWE1):c.9208C>T (p.Arg3070Cys) rs886041876
NM_031443.4(CCM2):c.169A>T (p.Arg57Ter) rs1562882049
NM_031448.6(C19orf12):c.161G>A (p.Gly54Glu) rs752450983
NM_031448.6(C19orf12):c.171_181del (p.Gly58fs) rs515726204
NM_031483.7(ITCH):c.957A>G (p.Leu319=) rs2515681435
NM_031885.5(BBS2):c.535-1G>C rs2144177127
NM_032043.3(BRIP1):c.1853_1854insG (p.Pro619fs) rs587781985
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs) rs771028677
NM_032108.4(SEMA6B):c.2066G>A (p.Trp689Ter) rs2145342438
NM_032119.4(ADGRV1):c.5784C>G (p.Ser1928Arg) rs199605700
NM_032119.4(ADGRV1):c.5967dup (p.Val1990fs) rs778288846
NM_032119.4(ADGRV1):c.9178dup (p.Thr3060fs) rs1749485242
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798
NM_032271.3(TRAF7):c.1919T>C (p.Leu640Pro) rs2141299157
NM_032383.5(HPS3):c.1778G>A (p.Trp593Ter) rs1723609962
NM_032383.5(HPS3):c.2739_2742del (p.Glu913fs) rs1277509410
NM_032520.5(GNPTG):c.190_193dup (p.Phe65fs) rs2141861740
NM_032578.4(MYPN):c.2863C>T (p.Arg955Trp) rs149887823
NM_032578.4(MYPN):c.2968G>T (p.Glu990Ter) rs755507922
NM_032578.4(MYPN):c.404C>G (p.Ala135Gly) rs141983653
NM_032608.7(MYO18B):c.6660_6670del (p.Arg2220fs) rs756408696
NM_032638.5(GATA2):c.1017+572C>T rs1559985787
NM_032756.4(HPDL):c.816_817del (p.Val273fs) rs2149082140
NM_032856.5(WDR73):c.888del (p.Phe296fs) rs869320712
NM_032861.4(SERAC1):c.1167_1170del rs772296795
NM_032861.4(SERAC1):c.1643_1646dup (p.Leu550fs) rs761964407
NM_032861.4(SERAC1):c.98TAA[1] (p.Ile34del) rs754630732
NM_032888.4(COL27A1):c.62+1del rs756877794
NM_033028.5(BBS4):c.1180C>T (p.Gln394Ter) rs2543012369
NM_033056.4(PCDH15):c.4368-3_4369dup rs866966373
NM_033056.4(PCDH15):c.5347_5363del (p.Pro1783fs) rs748086016
NM_033109.5(PNPT1):c.46del (p.Pro15_Leu16insTer) rs1448753696
NM_033124.5(DRC2):c.877_878del (p.Ile293fs) rs863223325
NM_033124.5(DRC2):c.913C>T (p.Arg305Ter) rs759186574
NM_033305.3(VPS13A):c.1616C>G (p.Ser539Ter) rs758612012
NM_033305.3(VPS13A):c.9431_9432del (p.Glu3144fs) rs1085307750
NM_033310.3(KCNK4):c.698C>T (p.Pro233Leu) rs2034823903
NM_033337.3(CAV3):c.277G>A (p.Ala93Thr) rs28936686
NM_033337.3(CAV3):c.301T>C (p.Trp101Arg) rs199476337
NM_033360.4(KRAS):c.68T>G (p.Leu23Arg) rs730880472
NM_033380.3(COL4A5):c.1525G>C (p.Gly509Arg) rs754223700
NM_033380.3(COL4A5):c.4445G>A (p.Cys1482Tyr) rs1569508382
NM_033380.3(COL4A5):c.4706G>A (p.Arg1569Gln) rs281874743
NM_033380.3(COL4A5):c.866G>A (p.Gly289Asp) rs104886450
NM_033419.5(PGAP3):c.850C>T (p.His284Tyr) rs759541820
NM_033629.6(TREX1):c.144dup (p.Thr49fs) rs748914604
NM_033629.6(TREX1):c.150_151del (p.Gln51fs) rs770607110
NM_033629.6(TREX1):c.58dup (p.Glu20fs) rs78300695
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) rs79318303
NM_052844.4(DYNC2I2):c.1103_1104del (p.Glu368fs) rs759150616
NM_052844.4(DYNC2I2):c.629del (p.Pro210fs) rs2132146546
NM_052867.4(NALCN):c.1894C>T (p.Arg632Ter) rs541633673
NM_052876.4(NACC1):c.892C>T (p.Arg298Trp) rs1060505041
NM_053274.3(GLMN):c.157_161del (p.Glu52_Lys53insTer) rs762515373
NM_054012.4(ASS1):c.412C>T (p.Gln138Ter) rs1057516339
NM_054012.4(ASS1):c.539G>A (p.Ser180Asn) rs121908638
NM_054012.4(ASS1):c.846C>A (p.Tyr282Ter) rs549085827
NM_057175.5(NAA15):c.2344C>T (p.Arg782Ter) rs1270628305
NM_057176.3(BSND):c.452del (p.Pro151fs) rs765135576
NM_058172.6(ANTXR2):c.134T>C (p.Leu45Pro) rs886041401
NM_058216.3(RAD51C):c.404G>C (p.Cys135Ser) rs767796996
NM_058246.4(DNAJB6):c.149C>T (p.Ala50Val) rs575604496
NM_058246.4(DNAJB6):c.236-3C>G rs762487513
NM_058246.4(DNAJB6):c.265T>C (p.Phe89Leu) rs387907150
NM_058246.4(DNAJB6):c.940G>A (p.Glu314Lys) rs1584956408
NM_078480.3(PUF60):c.541G>A (p.Glu181Lys) rs1085307135
NM_080605.4(B3GALT6):c.901_904dup (p.Arg302fs) rs1329926209
NM_080675.4(SUN5):c.381del (p.Val128fs) rs781693813
NM_080680.3(COL11A2):c.1019dup (p.Pro340_Glu341insTer) rs1772090962
NM_080680.3(COL11A2):c.1135C>T (p.Arg379Ter) rs1417182811
NM_080680.3(COL11A2):c.1606C>T (p.Arg536Ter) rs745874653
NM_080680.3(COL11A2):c.2081_2085delinsA (p.Gly694fs) rs886044584
NM_080680.3(COL11A2):c.3343C>A (p.Pro1115Thr) rs372806452
NM_080680.3(COL11A2):c.361C>T (p.Arg121Cys) rs553025178
NM_080680.3(COL11A2):c.966dup (p.Thr323fs) rs748440351
NM_080860.4(RSPH1):c.407_410del (p.Lys136fs) rs587777059
NM_080916.3(DGUOK):c.130G>A (p.Glu44Lys) rs762550967
NM_080916.3(DGUOK):c.353G>A (p.Arg118His) rs150678946
NM_130837.3(OPA1):c.2635C>T (p.Arg879Ter) rs879255593
NM_130837.3(OPA1):c.2873_2876del rs80356530
NM_130839.5(UBE3A):c.1024C>T (p.Gln342Ter) rs587784534
NM_133378.4(TTN):c.37385_37387delAAG rs759525338
NM_133433.4(NIPBL):c.1808del (p.Lys603fs) rs727503767
NM_133433.4(NIPBL):c.7168G>A (p.Ala2390Thr) rs587784036
NM_133497.4(KCNV2):c.427G>T (p.Glu143Ter) rs104894113
NM_138295.5(PKD1L1):c.1071del (p.His358fs) rs544774439
NM_138413.4(HOGA1):c.10_11insTGGTC (p.Pro4fs) rs924232072
NM_138413.4(HOGA1):c.227G>A (p.Gly76Asp) rs796052088
NM_138413.4(HOGA1):c.938AGG[2] (p.Glu315del) rs397509360
NM_138576.4(BCL11B):c.1904ACG[3] (p.Asp638del) rs1278493215
NM_138694.4(PKHD1):c.12036del (p.Gly4013fs)
NM_138694.4(PKHD1):c.1397G>A (p.Gly466Glu) rs750730042
NM_138694.4(PKHD1):c.2452C>T (p.Gln818Ter) rs398124480
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp) rs370277502
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs) rs746972457
NM_138694.4(PKHD1):c.4733del (p.Tyr1578fs) rs727504087
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly) rs201881567
NM_138694.4(PKHD1):c.8069G>A (p.Trp2690Ter) rs768660365
NM_138694.4(PKHD1):c.8208del (p.Trp2736fs) rs2151512076
NM_138694.4(PKHD1):c.85G>T (p.Glu29Ter) rs398124498
NM_139058.3(ARX):c.306GGC[7] (p.Ala113_Ala115del) rs387906492
NM_139058.3(ARX):c.428_451dup (p.Gly143_Ala150dup) rs387906493
NM_139248.3(LIPH):c.280_369dup (p.Lys123_Thr124insGlyLeuLeuSerValGluAspMetAsnValValValValAspTrpAsnArgGlyAlaThrThrLeuIleTyrThrHisAlaSerSerLys) rs1720449752
NM_139343.3(BIN1):c.1002+2T>C rs1553458019
NM_139343.3(BIN1):c.1264-11_1270del rs776737413
NM_144573.4(NEXN):c.1401AGA[2] (p.Glu470del) rs397517846
NM_144772.3(NAXE):c.326dup (p.Thr110fs) rs779820587
NM_144773.4(PROKR2):c.58del (p.His20fs) rs587777834
NM_145020.5(CFAP53):c.1213+1G>A rs2144412496
NM_145045.5(ODAD3):c.1116+1G>T rs761992279
NM_145239.3(PRRT2):c.623C>A (p.Ser208Tyr) rs201409113
NM_145239.3(PRRT2):c.649del (p.Arg217fs) rs587778771
NM_145239.3(PRRT2):c.649dup (p.Arg217fs) rs587778771
NM_145239.3(PRRT2):c.650del (p.Arg217fs) rs730882124
NM_145261.4(DNAJC19):c.63del (p.Arg20_Tyr21insTer) rs2108509666
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys) rs1064797245
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His) rs606231435
NM_152305.3(POGLUT1):c.552G>A (p.Trp184Ter) rs1560034617
NM_152383.5(DIS3L2):c.780A>G (p.Glu260=) rs2106355380
NM_152443.3(RDH12):c.609C>A (p.Ser203Arg) rs753959716
NM_152490.5(B3GALNT2):c.824_825dup (p.Ile276fs) rs367543075
NM_152515.5(CKAP2L):c.501del (p.Asn167fs) rs2104884982
NM_152564.5(VPS13B):c.10381_10382del (p.Leu3462fs) rs180177371
NM_152564.5(VPS13B):c.1044G>A (p.Trp348Ter) rs1847921335
NM_152564.5(VPS13B):c.11750_11752dup (p.Asp3917dup) rs386834068
NM_152564.5(VPS13B):c.11809_11810dup (p.Thr3938fs) rs1371736348
NM_152564.5(VPS13B):c.11838T>A (p.Cys3946Ter) rs773094891
NM_152564.5(VPS13B):c.1219C>T (p.Gln407Ter) rs386834070
NM_152564.5(VPS13B):c.1482del (p.Thr495fs) rs2132556658
NM_152564.5(VPS13B):c.2018C>G (p.Ser673Ter) rs1554645551
NM_152564.5(VPS13B):c.8776AAG[1] (p.Lys2927del) rs549810522
NM_152564.5(VPS13B):c.9394_9398del (p.Lys3132fs) rs2130858031
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del) rs752762669
NM_152703.5(SAMD9L):c.3353A>G (p.Tyr1118Cys) rs1562789302
NM_152743.4(BRAT1):c.1710del (p.Gln571fs) rs756489141
NM_152743.4(BRAT1):c.393_422del (p.Gln132_Ala141del) rs1562582216
NM_152743.4(BRAT1):c.638dup (p.Val214fs) rs730880324
NM_152906.7(TANGO2):c.443T>G (p.Leu148Trp) rs2518903115
NM_153006.3(NAGS):c.872T>A (p.Ile291Asn) rs2509280602
NM_153240.5(NPHP3):c.1304_1306del (p.Glu435del) rs1456714047
NM_153240.5(NPHP3):c.1853T>C (p.Ile618Thr) rs139730838
NM_153240.5(NPHP3):c.1985+5G>A rs754508002
NM_153682.3(PIGP):c.384del (p.Glu129fs) rs778481061
NM_153704.6(TMEM67):c.1413-2A>G rs786205608
NM_153766.3(KCNJ1):c.505C>A (p.Arg169Ser) rs138120505
NM_170707.4(LMNA):c.104T>C (p.Leu35Pro) rs267607644
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) rs58932704
NM_170707.4(LMNA):c.1411C>T (p.Arg471Cys) rs28928902
NM_170707.4(LMNA):c.1622G>A (p.Arg541His) rs61444459
NM_170707.4(LMNA):c.569G>A (p.Arg190Gln) rs267607571
NM_170707.4(LMNA):c.618C>G (p.Phe206Leu) rs267607629
NM_170707.4(LMNA):c.640-10A>G rs80356807
NM_170707.4(LMNA):c.674G>A (p.Arg225Gln) rs199474724
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) rs59332535
NM_170707.4(LMNA):c.811-1G>A rs1365042239
NM_170707.4(LMNA):c.938T>C (p.Leu313Pro) rs2102886618
NM_170784.3(MKKS):c.116C>T (p.Pro39Leu) rs1270369106
NM_172107.4(KCNQ2):c.1004C>T (p.Pro335Leu) rs796052641
NM_172107.4(KCNQ2):c.1067T>C (p.Leu356Pro) rs1057518772
NM_172107.4(KCNQ2):c.1229dup (p.Pro411fs) rs886041339
NM_172107.4(KCNQ2):c.1637T>C (p.Met546Thr) rs886041860
NM_172107.4(KCNQ2):c.1657C>T (p.Arg553Trp) rs759584387
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp) rs773171451
NM_172107.4(KCNQ2):c.753C>G (p.Tyr251Ter) rs2145735982
NM_173354.5(SIK1):c.1463G>A (p.Cys488Tyr) rs769962713
NM_173354.5(SIK1):c.1832A>G (p.Gln611Arg) rs1243997625
NM_173354.5(SIK1):c.2152G>A (p.Ala718Thr) rs374537813
NM_173660.5(DOK7):c.1263dup (p.Ser422fs) rs606231129
NM_173660.5(DOK7):c.1378dup (p.Gln460fs) rs606231133
NM_173660.5(DOK7):c.1403_1408dup (p.Gly468_Pro469dup) rs762148551
NM_173660.5(DOK7):c.161G>A (p.Arg54His) rs201818140
NM_173689.7(CRB2):c.3089_3104del (p.Arg1030fs) rs879255251
NM_173689.7(CRB2):c.3089_3104dup (p.Gly1036fs) rs879255251
NM_173689.7(CRB2):c.3373G>T (p.Gly1125Trp) rs543547663
NM_174878.3(CLRN1):c.13C>T (p.Gln5Ter) rs1057517224
NM_174878.3(CLRN1):c.254-649T>G rs976853535
NM_174936.4(PCSK9):c.316G>A (p.Gly106Arg) rs2100267180
NM_175748.4(UBR7):c.618del (p.Glu207fs) rs1894637828
NM_177400.3(NKX6-2):c.121A>T (p.Lys41Ter) rs1131692047
NM_177559.3(CSNK2A1):c.139C>T (p.Arg47Ter)
NM_177924.5(ASAH1):c.457+4A>G rs767864356
NM_177924.5(ASAH1):c.994G>C (p.Asp332His) rs941670381
NM_177924.5(ASAH1):c.998G>A (p.Arg333His) rs1588974098
NM_177939.3(P4HTM):c.949del (p.Val317fs) rs1576608329
NM_178526.5(SLC25A42):c.871A>G (p.Asn291Asp) rs864321624
NM_178857.6(RP1L1):c.36C>A (p.Ser12Arg) rs560860762
NM_178857.6(RP1L1):c.610-2A>C
NM_181426.2(CCDC39):c.2061dup (p.Ala688fs) rs2108406611
NM_181507.2(HPS5):c.1423del (p.Leu475fs) rs766602179
NM_182760.4(SUMF1):c.337G>A (p.Glu113Lys) rs1085307107
NM_182894.3(VSX2):c.599G>C (p.Arg200Pro) rs121912543
NM_182914.3(SYNE2):c.16328AAG[1] (p.Glu5444del) rs751691446
NM_182914.3(SYNE2):c.18190G>A (p.Ala6064Thr) rs182079744
NM_182914.3(SYNE2):c.19275G>T (p.Val6425=) rs772092387
NM_182914.3(SYNE2):c.20033G>C (p.Gly6678Ala) rs140676416
NM_182914.3(SYNE2):c.2498C>G (p.Ala833Gly) rs200503488
NM_182916.3(TRNT1):c.1057-7C>G rs368078167
NM_182961.4(SYNE1):c.11971_11974del (p.Ile3991fs) rs1246610728
NM_182961.4(SYNE1):c.14423C>T (p.Thr4808Met) rs373040273
NM_182961.4(SYNE1):c.16155C>G (p.Tyr5385Ter) rs747322064
NM_182961.4(SYNE1):c.16390-2A>C rs759460806
NM_182961.4(SYNE1):c.16984C>T (p.Arg5662Cys) rs145899734
NM_182961.4(SYNE1):c.2727+1G>T rs942550749
NM_182961.4(SYNE1):c.393A>C (p.Leu131=) rs139291592
NM_182961.4(SYNE1):c.4889C>G (p.Ala1630Gly) rs566004273
NM_182961.4(SYNE1):c.8866C>T (p.Gln2956Ter) rs886042954
NM_182961.4(SYNE1):c.9082C>T (p.Arg3028Ter) rs369163343
NM_183050.4(BCKDHB):c.1A>G (p.Met1Val) rs1005542482
NM_183050.4(BCKDHB):c.93_103dup (p.Phe35fs) rs398124601
NM_183075.3(CYP2U1):c.1355A>T (p.Asp452Val) rs775157727
NM_183075.3(CYP2U1):c.947A>T (p.Asp316Val) rs397514513
NM_183235.3(RAB27A):c.259G>C (p.Ala87Pro) rs104894497
NM_183357.3(ADCY5):c.2176G>A (p.Ala726Thr) rs796065306
NM_194454.3(KRIT1):c.146_147del (p.Arg49fs) rs1057518665
NM_198075.4(LRRC56):c.494T>C (p.Leu165Pro) rs1852307190
NM_198129.4(LAMA3):c.5061C>A (p.Cys1687Ter) rs2144862529
NM_198271.5(LMOD3):c.1099_1100del (p.Asn367fs) rs727502799
NM_198271.5(LMOD3):c.723_733del (p.Asp242fs) rs769824247
NM_198525.3(KIF7):c.2560_2570del (p.Ala854fs) rs762662896
NM_198576.4(AGRN):c.4779_4793del (p.Gln1593_Cys1597del) rs769494139
NM_198576.4(AGRN):c.574_578dup (p.Ser194fs) rs1570190059
NM_198576.4(AGRN):c.593AGA[1] (p.Lys199del) rs749209897
NM_198576.4(AGRN):c.667dup (p.Leu223fs) rs1644909838
NM_198578.4(LRRK2):c.4883G>A (p.Arg1628His) rs33949390
NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr) rs796052505
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615
NM_201253.3(CRB1):c.80G>T (p.Cys27Phe) rs1460946384
NM_201384.3(PLEC):c.11573C>T (p.Thr3858Met) rs373863249
NM_201384.3(PLEC):c.1963A>G (p.Lys655Glu) rs782382496
NM_201384.3(PLEC):c.2587CAGGAGGCC[1] (p.863QEA[1]) rs786205252
NM_201384.3(PLEC):c.3676G>A (p.Ala1226Thr) rs782539707
NM_201384.3(PLEC):c.4255C>T (p.Gln1419Ter) rs886044836
NM_201384.3(PLEC):c.5444G>A (p.Arg1815Gln) rs782213742
NM_201384.3(PLEC):c.5968G>A (p.Val1990Met) rs201588551
NM_201384.3(PLEC):c.6313_6314delinsAT (p.Ala2105Met) rs886044784
NM_201384.3(PLEC):c.7370G>C (p.Arg2457Pro) rs199504105
NM_201384.3(PLEC):c.9577G>T (p.Gly3193Cys) rs201402970
NM_201548.5(CERKL):c.1073+3_1073+6del rs1553513437
NM_201548.5(CERKL):c.316C>A (p.Arg106Ser) rs569826109
NM_203446.3(SYNJ1):c.1918_1921del (p.Val640fs) rs1488690709
NM_203447.4(DOCK8):c.5205C>T (p.Ala1735=) rs150682688
NM_206926.2(SELENON):c.-11_81del (p.Met1fs) rs1557813850
NM_206926.2(SELENON):c.1046GCA[1] (p.Ser350del) rs770747626
NM_206926.2(SELENON):c.1074_1075del (p.Glu360fs)
NM_206926.2(SELENON):c.1120G>T (p.Glu374Ter) rs777659233
NM_206926.2(SELENON):c.1277C>T (p.Ser426Phe) rs767530943
NM_206926.2(SELENON):c.301+956_301+959del rs773670891
NM_206926.2(SELENON):c.646-2_658del rs758934983
NM_206926.2(SELENON):c.761_762del (p.Val254fs) rs1184282261
NM_206933.4(USH2A):c.10657G>A (p.Asp3553Asn) rs910086490
NM_206933.4(USH2A):c.11055G>A (p.Trp3685Ter) rs779662442
NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met) rs527236137
NM_206933.4(USH2A):c.13198G>T (p.Ala4400Ser) rs541022183
NM_206933.4(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu) rs1553252388
NM_206933.4(USH2A):c.13339A>G (p.Met4447Val) rs139474806
NM_206933.4(USH2A):c.4669_4672del (p.Ile1557fs) rs747891004
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp) rs727505116
NM_206933.4(USH2A):c.6485+1G>A rs1553287070
NM_206933.4(USH2A):c.6653T>C (p.Leu2218Pro) rs2527618828
NM_206933.4(USH2A):c.9691C>T (p.Gln3231Ter) rs1662771528
NM_206965.2(FTCD):c.990dup (p.Pro331fs) rs398124234
NM_207034.3(EDN3):c.332G>T (p.Cys111Phe) rs773779627
NM_207346.3(TSEN54):c.1120_1122delinsGGC (p.Arg374Gly) rs1555644694
NM_207346.3(TSEN54):c.190C>T (p.Gln64Ter) rs2053374114
NM_207346.3(TSEN54):c.789_798del (p.Leu264fs) rs2053430432
NM_207361.6(FREM2):c.6674A>G (p.Asn2225Ser) rs143576067
NM_207581.4(DUOXA2):c.738C>G (p.Tyr246Ter) rs4774518
NM_213599.3(ANO5):c.1538C>T (p.Thr513Ile) rs281865467
NM_213599.3(ANO5):c.1767C>A (p.Tyr589Ter) rs188150039
NM_213599.3(ANO5):c.2498T>G (p.Met833Arg) rs142073798
NM_213599.3(ANO5):c.970del (p.Cys324fs) rs2494255442
Single allele

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