ClinVar Miner

Variants from Illumina Laboratory Services, Illumina with conflicting interpretations

Location: United States  Primary collection method: clinical testing
Minimum review status of the submission from Illumina Laboratory Services, Illumina: Collection method of the submission from Illumina Laboratory Services, Illumina:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
112342 18640 27 6880 11739 106 1322 19140

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
Illumina Laboratory Services, Illumina pathogenic likely pathogenic uncertain significance likely benign benign affects association drug response established risk allele likely risk allele pathogenic, low penetrance protective risk factor uncertain risk allele other
pathogenic 7 342 68 8 7 4 0 0 1 0 4 1 11 0 1
likely pathogenic 329 1 84 7 3 0 0 0 0 0 0 1 1 0 2
uncertain significance 585 580 8 8380 2789 2 1 1 1 5 0 2 7 3 9
likely benign 99 37 1189 5 4346 2 3 1 1 0 0 2 14 2 4
benign 54 25 670 2146 6 4 4 2 0 0 0 1 12 2 9

Submitter to submitter summary #

Total submitters: 408
Download table as spreadsheet
Submitter Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
Invitae 0 9602 0 3077 8109 19 371 11533
GeneDx 0 1705 0 958 840 0 91 1873
Natera, Inc. 0 3033 0 568 1257 0 42 1867
Genome-Nilou Lab 0 4872 0 766 600 0 31 1394
PreventionGenetics, part of Exact Sciences 0 748 0 516 516 1 30 1055
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1216 0 492 356 0 20 868
Fulgent Genetics, Fulgent Genetics 0 2549 0 592 50 0 19 661
CeGaT Center for Human Genetics Tuebingen 0 497 0 158 429 0 48 628
Eurofins Ntd Llc (ga) 0 736 0 300 212 2 21 530
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 716 0 279 239 0 15 530
Illumina Laboratory Services, Illumina 147430 2186 0 239 266 0 2 506
Mendelics 0 578 0 233 241 0 31 505
All of Us Research Program, National Institutes of Health 0 467 0 167 283 0 10 459
Counsyl 0 634 0 166 214 0 64 444
Ambry Genetics 0 408 0 157 272 0 12 440
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 570 2 174 174 0 86 434
OMIM 0 389 0 87 32 56 257 430
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 442 0 239 136 4 32 411
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 434 0 232 126 0 5 361
Genetic Services Laboratory, University of Chicago 0 464 0 180 151 2 15 346
Baylor Genetics 0 798 0 79 96 0 162 335
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 929 0 187 126 0 4 317
Revvity Omics, Revvity 0 913 0 81 147 0 87 314
Athena Diagnostics Inc 0 394 0 185 104 0 10 298
Color Diagnostics, LLC DBA Color Health 0 249 0 137 147 0 3 287
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 464 0 196 57 1 0 254
Clinical Genetics, Academic Medical Center 0 249 0 147 91 0 4 240
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 347 0 145 55 0 10 209
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 283 0 110 64 0 3 177
Myriad Genetics, Inc. 0 191 0 50 77 0 11 138
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 60 0 82 48 0 0 130
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 165 0 75 52 0 3 128
Mayo Clinic Laboratories, Mayo Clinic 0 232 0 29 65 0 13 106
Sharing Clinical Reports Project (SCRP) 0 56 0 56 36 0 0 92
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 55 0 9 68 12 2 91
Institute of Human Genetics, University of Leipzig Medical Center 0 138 0 33 31 1 24 89
Quest Diagnostics Nichols Institute San Juan Capistrano 0 101 0 30 54 0 5 88
Sema4, Sema4 0 77 0 32 46 0 1 79
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 94 0 24 28 0 27 79
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 97 0 37 32 0 8 76
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 90 0 11 57 0 5 72
Breast Cancer Information Core (BIC) (BRCA2) 0 59 0 22 49 0 0 71
Department of Pathology and Laboratory Medicine, Sinai Health System 0 51 0 18 45 1 5 69
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 47 0 36 29 0 2 67
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 29 10 18 28 0 2 58
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 104 0 20 23 0 14 57
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 31 0 5 37 0 14 56
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 57 0 25 26 0 4 55
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 46 0 28 16 0 10 54
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 79 0 23 26 0 3 52
BRCAlab, Lund University 0 16 0 37 15 0 0 52
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 51 0 24 24 0 4 51
Michigan Medical Genetics Laboratories, University of Michigan 0 49 0 43 8 0 0 51
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 154 0 21 11 0 18 49
Pars Genome Lab 0 134 0 18 31 0 0 48
Genetics and Molecular Pathology, SA Pathology 0 73 0 19 18 0 8 45
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 84 0 14 25 0 5 44
SIB Swiss Institute of Bioinformatics 0 46 0 26 14 0 3 43
Johns Hopkins Genomics, Johns Hopkins University 0 67 0 16 19 0 7 42
CSER _CC_NCGL, University of Washington 0 45 0 8 24 0 7 39
MGZ Medical Genetics Center 0 96 0 17 10 0 11 38
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 65 0 11 25 0 2 38
Pathway Genomics 0 38 0 26 11 0 0 37
Breast Cancer Information Core (BIC) (BRCA1) 0 42 0 6 30 0 0 36
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 43 0 10 24 0 2 36
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 32 0 10 21 0 2 33
GeneReviews 0 450 9 4 4 1 15 33
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 17 0 17 12 0 4 33
3billion 0 112 0 16 1 0 16 33
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen 0 49 0 9 19 0 3 31
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 75 0 10 15 0 5 30
NIHR Bioresource Rare Diseases, University of Cambridge 0 18 0 13 3 0 15 30
Clinical Biochemistry Laboratory, Health Services Laboratory 0 11 0 3 21 0 5 29
New York Genome Center 0 115 0 5 18 0 5 27
Neuberg Centre For Genomic Medicine, NCGM 0 79 0 9 7 0 11 27
LDLR-LOVD, British Heart Foundation 0 24 0 9 12 0 4 25
Genomics England Pilot Project, Genomics England 0 11 0 14 0 0 10 24
Molecular Genetics, Royal Melbourne Hospital 0 52 0 12 10 0 2 24
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 37 0 11 8 0 4 23
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 21 0 6 11 0 6 23
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 35 0 13 1 0 8 22
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 16 0 7 8 0 7 22
Leiden Open Variation Database 0 9 0 4 6 0 12 22
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 30 0 8 9 0 6 21
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 58 0 10 1 0 9 20
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 11 0 7 2 0 11 20
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen 0 11 0 8 9 0 3 20
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 9 0 7 9 0 3 19
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 6 0 9 6 0 4 19
European Reference Network on Genetic Tumour Risk Syndromes (ERN-GENTURIS), i3s - Instituto de Investigação e Inovação em Saúde, University of Porto 0 13 0 13 6 0 0 19
Elsea Laboratory, Baylor College of Medicine 0 9 0 3 8 0 8 18
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 39 0 11 0 0 7 17
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 70 0 8 2 0 8 17
DASA 0 34 0 6 0 0 10 16
Cohesion Phenomics 0 23 0 15 1 0 0 16
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 13 0 5 10 0 0 15
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 1 8 0 0 6 15
Department of Ophthalmology and Visual Sciences Kyoto University 0 2 5 4 2 0 4 15
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 15 0 3 4 0 8 15
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 18 0 2 8 0 5 15
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 53 0 7 2 0 5 14
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 13 0 0 10 0 4 14
Blueprint Genetics 0 19 0 2 7 1 4 14
Phosphorus, Inc. 0 28 0 6 7 0 1 14
University of Washington Department of Laboratory Medicine, University of Washington 0 6 0 6 5 0 3 14
Reproductive Health Research and Development, BGI Genomics 0 32 0 5 3 0 6 14
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 50 0 5 0 0 8 13
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge 0 19 0 5 7 0 1 13
CFTR-France 0 12 0 1 0 0 12 13
AiLife Diagnostics, AiLife Diagnostics 0 10 0 7 1 0 5 13
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel 0 11 0 4 7 0 2 13
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen 0 21 0 3 8 0 1 12
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 20 0 4 1 0 6 11
Centogene AG - the Rare Disease Company 0 54 0 3 4 0 4 11
Division of Human Genetics, Children's Hospital of Philadelphia 0 43 0 7 1 0 3 11
Fundacion Hipercolesterolemia Familiar 0 6 0 6 3 0 2 11
ClinGen PAH Variant Curation Expert Panel 0 27 0 5 4 0 2 11
Molecular Biology Laboratory, Fundació Puigvert 0 2 0 8 0 0 3 11
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino 0 5 0 3 1 0 7 11
ClinGen Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel, ClinGen 0 15 0 3 8 0 0 11
Robarts Research Institute, Western University 0 11 0 5 5 0 0 10
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 31 0 8 0 0 2 10
Department of Human Genetics, Laborarztpraxis Dres. Walther, Weindel und Kollegen 0 18 0 8 2 0 0 10
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 40 0 0 4 0 6 10
Department of Medical and Surgical Sciences, University of Bologna 0 0 0 6 4 0 0 10
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 0 4 0 7 2 0 0 9
Center for Medical Genetics Ghent, University of Ghent 0 11 0 1 8 0 0 9
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 7 0 3 5 0 2 9
Cardiovascular Biomarker Research Laboratory, Mayo Clinic 0 7 0 6 3 0 0 9
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova 0 14 0 4 3 0 2 9
ClinGen ACADVL Variant Curation Expert Panel, ClinGen 0 14 0 5 4 0 0 9
Molecular Genetics Laboratory, Institute for Ophthalmic Research 0 5 0 0 2 0 6 8
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 5 0 1 4 0 3 8
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 9 0 2 5 0 1 8
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 9 0 1 1 0 6 8
Undiagnosed Diseases Network, NIH 0 17 0 3 3 0 3 8
Sharon lab, Hadassah-Hebrew University Medical Center 0 5 0 3 0 0 5 8
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 24 0 2 3 0 3 8
SingHealth Duke-NUS Institute of Precision Medicine 0 6 0 2 5 0 1 8
Inherited Neuropathy Consortium Ii, University Of Miami 0 7 0 0 8 0 0 8
Institute for Human Genetics, University Medical Center Freiburg 0 3 0 1 0 0 6 7
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 13 0 5 0 1 1 7
UCLA Clinical Genomics Center, UCLA 0 2 0 3 0 0 4 7
Iberoamerican FH Network 0 5 0 2 5 0 0 7
Service de Génétique Moléculaire, Hôpital Robert Debré 0 5 0 0 5 0 1 6
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 13 0 2 1 0 3 6
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation 0 6 0 4 2 0 0 6
Inherited Neuropathy Consortium 0 0 0 1 4 0 1 6
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia 0 1 0 3 0 0 3 6
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel 0 24 0 3 3 0 0 6
Molecular Endocrinology Laboratory, Christian Medical College 0 3 0 0 6 0 0 6
Clinical Genomics Labs, University Health Network 0 1 0 3 2 0 1 6
ClinGen Coagulation Factor Deficiency Variant Curation Expert Panel, Clingen 0 6 0 4 1 0 1 6
University of Washington Center for Mendelian Genomics, University of Washington 0 2 0 3 0 0 3 5
UW Hindbrain Malformation Research Program, University of Washington 0 0 0 1 0 0 4 5
Laboratory of Prof. Karen Avraham, Tel Aviv University 0 1 0 2 0 0 3 5
Daryl Scott Lab, Baylor College of Medicine 0 17 0 1 3 0 2 5
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 15 0 3 1 0 1 5
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 12 0 2 2 0 1 5
Clingen PTEN Variant Curation Expert Panel, Clingen 0 3 0 2 2 0 1 5
ClinGen Hearing Loss Variant Curation Expert Panel 0 2 0 0 4 0 1 5
National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center 0 0 0 0 0 5 0 5
ClinGen FBN1 Variant Curation Expert Panel, ClinGen 0 3 0 5 0 0 0 5
Giacomini Lab, University of California, San Francisco 0 10 0 0 4 0 1 5
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences 0 6 0 0 0 0 5 5
ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel, ClinGen 0 0 0 4 1 0 0 5
King Laboratory, University of Washington 0 2 0 0 0 0 4 4
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 8 0 3 1 0 0 4
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 2 0 1 0 0 3 4
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 6 0 1 2 0 1 4
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 0 0 0 0 0 4 4
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 2 0 0 2 0 2 4
Center for Precision Medicine, Vanderbilt University Medical Center 0 4 0 0 2 0 2 4
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 5 0 3 0 0 2 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 26 0 1 1 1 1 4
Institute of Reproductive Genetics, University of Münster 0 1 0 0 1 0 3 4
ClinGen TP53 Variant Curation Expert Panel, ClinGen 0 1 0 1 3 0 0 4
ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen 0 12 0 2 1 0 1 4
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 7 0 1 1 0 2 4
Arcensus 0 3 0 1 1 0 2 4
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 0 0 3 0 0 1 3
Clinical Genetics and Genomics, Karolinska University Hospital 0 14 0 2 0 0 1 3
Institute for Integrative and Experimental Genomics, University of Luebeck 0 1 0 2 0 0 1 3
Atomic Energy Commission of Syria (AECS) 0 0 0 3 0 0 0 3
Hadassah Hebrew University Medical Center 0 5 0 3 0 0 0 3
Medical Genetics, University of Parma 0 5 0 2 1 0 0 3
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. 0 9 0 2 1 0 0 3
Institute of Human Genetics, University Hospital of Duesseldorf 0 7 0 0 2 0 1 3
Metabolic Liver Diseases Lab, Fondazione IRCCS Ca Granda Policlinico, University of Milan 0 0 0 0 0 0 3 3
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 3 0 2 0 0 1 3
Department of Laboratory Medicine and Genetics, Trillium Health Partners Credit Valley Hospital 0 9 0 1 1 0 1 3
Human Genomics Unit, Institute for molecular medicine Finland (FIMM) 0 1 0 0 1 0 2 3
Biomedical Innovation Departament, CIEMAT 0 1 0 0 0 0 3 3
Center of Medical Genetics, Central South University 0 0 0 0 1 0 2 3
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 0 5 0 3 0 0 0 3
Difficult and Complicated Liver Diseases and Artificial Liver Center, Beijing You An Hospital, Capital Medical University 0 0 0 1 0 0 2 3
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles 0 3 0 0 0 0 3 3
Clinical Genomics Program, Stanford Medicine 0 17 0 1 1 0 1 3
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 1 0 1 1 0 1 3
Lifecell International Pvt. Ltd 0 12 0 2 0 0 1 3
GenomeConnect - Simons Searchlight 0 1 0 2 0 0 1 3
Paris Brain Institute, Inserm - ICM 0 2 0 1 1 0 1 3
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II 0 1 0 0 0 0 3 3
Mark Fleming Laboratory, Boston Children's Hospital 0 0 0 2 0 0 1 3
European Hospital Georges Pompidou Genetics Department, Assistance Publique - Hôpitaux de Paris AP-HP 0 7 0 3 0 0 0 3
Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi 0 0 0 0 0 0 3 3
Department of Neurology, Xijing Hospital, Fourth Military Medical University 0 0 0 0 3 0 0 3
ClinGen Hereditary Hemorrhagic Telangiectasia Variant Curation Expert Panel, ClinGen 0 6 0 2 1 0 0 3
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 8 0 2 0 0 0 2
Institute of Human Genetics, Cologne University 0 4 0 2 0 0 0 2
Institute of Medical Molecular Genetics, University of Zurich 0 0 0 2 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 7 0 2 0 0 0 2
CFTR2 0 10 0 0 0 0 2 2
Eye Genetics Research Group, Children's Medical Research Institute 0 0 0 1 1 0 0 2
PharmGKB 0 0 0 0 0 2 0 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
Department of Prosthodontics, Peking University School and Hospital of Stomatology 0 0 0 0 0 0 2 2
Duke University Health System Sequencing Clinic, Duke University Health System 0 4 0 1 0 0 1 2
GeneKor MSA 0 3 0 1 1 0 0 2
Laboratory of Metabolic Disorders, Peking University First Hospital 0 1 0 0 1 0 1 2
UCL Genetics Institute, UCL 0 0 0 0 0 2 0 2
Vantari Genetics 0 1 0 2 0 0 0 2
Center for Statistical Genetics, Columbia University 0 0 0 0 0 0 2 2
Department of Medical Genetics, University Hospital of North Norway 0 6 0 2 0 0 0 2
Medical Molecular Genetics Department, National Research Center 0 6 0 0 2 0 0 2
GenePathDx, GenePath diagnostics 0 0 0 1 1 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 12 0 0 2 0 0 2
Yale Center for Mendelian Genomics, Yale University 0 2 0 1 0 0 1 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 3 0 2 0 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 7 0 1 1 0 2 2
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 0 1 0 1 0 0 1 2
Kariminejad - Najmabadi Pathology & Genetics Center 0 5 0 0 0 0 2 2
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe 0 0 0 2 0 0 0 2
Institute for Genomic Medicine, Nationwide Children's Hospital 0 1 0 0 0 0 2 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 2 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 0 11 0 1 0 0 1 2
Genetic Diseases Diagnostic Center, Koc University Hospital 0 0 0 1 0 0 1 2
Codex Genetics Limited 0 0 0 0 0 0 2 2
Biochemistry Laboratory of CDMU, Chengde Medical University 0 0 0 2 0 0 1 2
CZECANCA consortium 0 4 0 1 0 0 1 2
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics 0 2 0 1 1 0 0 2
Department of Medical Genomics, Royal Prince Alfred Hospital 0 0 0 1 0 0 1 2
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 15 0 1 1 0 0 2
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 0 7 0 2 0 0 0 2
Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine 0 0 0 1 0 0 1 2
Mount Sinai Diagnostic Laboratory, Icahn School of Medicine at Mount Sinai 0 0 0 1 0 0 1 2
Center of Excellence for Medical Genomics, Chulalongkorn University 0 0 0 1 0 0 1 2
CeMIA 0 5 0 1 1 0 0 2
Reproductive Endocrine Unit, Massachusetts General Hospital 0 0 0 0 2 0 0 2
Faculty of Health Sciences, Beirut Arab University 0 3 0 1 0 0 1 2
The Core Laboratory in Medical Center of Clinical Research, Shanghai Ninth People's Hospital, Shanghai Jiaotong University School of Medicine 0 0 0 0 1 0 1 2
Laboratory of Molecular Genetics, Children's Memorial Health Institute 0 1 0 1 0 0 1 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 3 0 1 0 0 1 2
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 1 0 0 0 0 2 2
Suma Genomics 0 7 0 1 0 0 1 2
Department of Second Dental Center, Ninth People’s Hospital, Shanghai Jiao Tong University School of Medicine 0 0 0 0 2 0 0 2
Eurofins-Biomnis 0 2 0 0 0 0 2 2
Molecular Genetics Laboratory - Cardiogenetics, CHU de Nantes 0 3 0 1 0 0 1 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 7 0 1 0 0 1 2
Genomics And Bioinformatics Analysis Resource, Columbia University 0 7 0 1 0 0 1 2
Clingen Thrombosis Variant Curation Expert Panel, ClinGen 0 4 0 0 1 0 1 2
Rare Disease Genomics Group, St George's University of London 0 0 0 0 2 0 0 2
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital 0 1 0 0 1 0 1 2
Molecular Otolaryngology and Renal Research Laboratories, University of Iowa Hospital and Clinics 0 0 0 1 0 0 0 1
Molecular Genetics Diagnostic Laboratory, Detroit Medical Center University Laboratories 0 0 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 3 0 0 0 0 1 1
Molecular Genetics Laboratory, London Health Sciences Centre 0 3 0 0 1 0 0 1
Medical Genomics Laboratory, Department of Genetics UAB 0 2 0 1 0 0 0 1
Hehr Laboratory, Center for Human Genetics Regensburg 0 0 0 0 1 0 0 1
Human Developmental Genetics Laboratory, Medical College of Wisconsin 0 0 0 1 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 7 0 0 0 1 0 1
Molecular Diagnostics Laboratory, Seoul National University Hospital 0 0 0 1 0 0 0 1
Versiti Diagnostic Laboratories, Versiti, Inc 0 0 0 0 1 0 0 1
MyeliNeuroGene Lab, McGill University Health Center Research Institute 0 1 0 0 0 0 1 1
Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, Mayo Clinic 0 0 0 0 0 0 1 1
Columbia University Laboratory of Personalized Genomic Medicine, Columbia University Medical Center 0 0 0 0 0 0 1 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 6 0 0 0 0 1 1
SNPedia 0 0 0 0 0 0 1 1
Inserm U 954, Faculté de Médecine de Nancy 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
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 0 0 0 0 0 1 1
Department of Medical Genetics, Oslo University Hospital 0 4 0 1 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 3 0 0 1 0 0 1
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics 0 0 0 0 0 1 0 1
Centre of Medical Genetics, University of Antwerp 0 1 0 1 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 0 1 0 0 0 0 1 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 0 0 0 0 0 1 1
Genome Sciences Centre, British Columbia Cancer Agency 0 0 0 1 0 0 1 1
Centre for Genomic and Experimental Medicine, University of Edinburgh 0 0 0 1 0 0 0 1
Pediatric Genetics Division, Center for Pediatrics and Adolescent Medicine, University Medical Center Freiburg 0 1 0 0 0 0 1 1
Paul Sabatier University EA-4555, Paul Sabatier University 0 0 0 0 0 0 1 1
McDonnell Genome Institute, Washington University in St. Louis 0 0 0 0 0 0 1 1
Aziz Sancar Institute of Experimental Medicine, Istanbul University 0 0 0 0 0 0 1 1
National Institute on Deafness and Communication Disorders, National Institutes of Health 0 1 0 0 0 0 1 1
Clinical Genetics, Erasmus University Medical Center 0 0 0 0 1 0 0 1
Bicknell laboratory, University of Otago 0 0 0 0 0 0 1 1
Human Genetics Disease in Children – Taif University, Taif University 0 4 0 0 0 0 1 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 2 0 0 1 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 10 0 0 0 0 1 1
Biology Pathology Center, Lille University Hospital 0 0 0 0 0 0 1 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 0 0 0 0 0 1 1
Bioinformatics dept., Datar Cancer Genetics Limited, India 0 0 0 0 0 0 1 1
Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen 0 0 0 0 1 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 0 2 0 0 0 0 1 1
Reutter Lab, Institute of Human Genetics, University Hospital Bonn 0 0 0 0 0 0 1 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 1 0 0 0 1
Pediatric Highly Intensive Care Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 0 0 0 1 0 0 1 1
IntelligeneCG 0 8 0 1 0 0 0 1
Neurogenetics Laboratory - MEYER, AOU Meyer 0 0 0 1 0 0 1 1
Biochimie - Maladies Neurologiques Hereditaires, Hospices Civils de Lyon 0 0 0 0 0 0 1 1
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital 0 0 0 0 0 0 1 1
TIDEX, University of British Columbia 0 0 0 0 1 0 0 1
Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency 0 1 0 0 1 0 0 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 0 0 0 1 1 0 1 1
Institute of Cellular and Molecular Medicine, Copenhagen University 0 0 0 1 0 0 1 1
Flegel Lab, National Institutes of Health 0 0 0 1 0 0 1 1
Genetics Department, University Hospital of Toulouse 0 0 0 1 0 0 1 1
Tolun Lab, Human Genetics Laboratory, Bogazici University 0 1 0 0 1 0 0 1
True Health Diagnostics 0 10 0 0 1 0 0 1
Genetics Division, Universidade Federal de Sao Paulo 0 0 0 1 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 4 0 1 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 2 0 1 0 0 1 1
Department of Genetic, Henri Mondor Hospital, Assistance Publique des Hôpitaux de Paris 0 0 0 0 0 0 1 1
Ocular Genomics Institute, Massachusetts Eye and Ear 0 15 0 1 0 0 0 1
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University 0 1 0 1 0 0 0 1
Laboratoire de Genetique Moleculaire, Centre Hospitalier Universitaire de Bordeaux 0 0 0 0 0 0 1 1
Medical Genetics Lab, Policlinico S. Orsola.Malpighi 0 0 0 1 0 0 1 1
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano 0 1 0 0 1 0 1 1
3DMed Clinical Laboratory Inc 0 0 0 0 1 0 0 1
Division of Genetic Medicine, Lausanne University Hospital 0 0 0 0 1 0 0 1
Gharavi Laboratory, Columbia University 0 5 0 0 1 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 3 0 0 0 0 1 1
Molecular Pathology Diagnostics Labratory, University of Iowa Hospitals & Clinics 0 0 0 1 0 0 1 1
Institute of Human Genetics, Heidelberg University 0 3 0 1 0 0 0 1
Morava/Kozicz Lab, Department of Clinical Genomics, Mayo Clinic 0 0 0 0 0 0 1 1
deCODE genetics, Amgen 0 2 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 4 0 0 0 0 1 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 0 0 0 0 1 1
Cytoplasmic Inheritance Laboratory, Institute of Genetics and Cytology 0 0 0 1 0 0 0 1
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 2 0 0 1 0 0 1
Biochemical Genetics Department, Cyprus Institute of Neurology and Genetics 0 0 0 0 0 0 1 1
ClinGen Myeloid Malignancy Variant Curation Expert Panel 0 17 0 1 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 0 0 0 0 1 1
Genesis Genome Database 0 0 0 0 0 0 1 1
Department of Haematogenetics, ICMR National Institute of Immunohaematology 0 0 0 0 1 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 0 0 1 0 0 1
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 0 3 0 0 1 0 0 1
Division of Medical Genetics, University of Washington 0 2 0 0 1 0 0 1
O&I group, Department of Genetics, University Medical Center of Groningen 0 0 0 0 1 0 0 1
The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder, Children's Hospital of Fudan University 0 0 0 0 0 0 1 1
Molecular Diagnosis Center for Deafness 0 2 0 0 1 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 0 2 0 1 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 16 0 0 1 0 0 1
Rare Disease Group, University of Exeter 0 0 0 1 0 0 1 1
Istanbul Faculty of Medicine, Istanbul University 0 0 0 0 0 0 1 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 0 0 0 0 0 1 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 0 0 0 0 0 1 1
Central Laboratory, The First Hospital of Lanzhou University 0 0 0 1 0 0 1 1
Ding PR Lab, Sun Yat-sen University Cancer Center 0 3 0 0 1 0 0 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 2 0 1 0 0 1 1
International Fanconi Anemia Registry, The Rockefeller University 0 0 0 0 0 0 1 1
Genomic Medicine, Universita Cattolica del Sacro Cuore 0 0 0 1 0 0 1 1
Laboratory of Molecular Genetics and Genomics, Rennes University Hospital 0 1 0 0 0 0 1 1
Department of Vascular Biology, Beijing Anzhen Hospital 0 1 0 1 0 0 0 1
Laboratory for Molecular Genetic Diagnostic of Neurological Diseases, University of Belgrade, School of Medicine 0 1 0 0 0 0 1 1
Precision Medicine Center, Zhengzhou University 0 2 0 0 1 0 0 1
Pediatric Department, Xiangya Hospital, Central South University 0 1 0 1 0 0 0 1
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University 0 1 0 0 0 0 1 1
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine 0 1 0 0 1 0 0 1
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State 0 4 0 1 0 0 0 1
KTest Genetics, KTest 0 0 0 0 0 0 1 1
ATS em Genética Clínica, Universidade Federal do Rio Grande do Sul 0 1 0 0 0 0 1 1
Neurogenetic Laboratory, Second Faculty of Medicine, Charles University 0 1 0 0 0 0 1 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 9 0 0 0 0 1 1
Pediatrics, All India Institute of Medical Sciences, New Delhi 0 0 0 0 0 1 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 3 0 0 0 0 1 1
Yunnan Provincial Key Laboratory of Clinical Virology, Institution of Basic and Clinical Medicine of Yunnan Province, The First People's Hospital of Yunnan Province 0 0 0 0 0 1 0 1
Bioinformatics Unit, Institut Pasteur de Montevideo 0 0 0 1 0 0 0 1
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 0 0 0 0 0 0 1 1
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar 0 1 0 0 1 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 0 1 0 0 0 0 1 1
JKU Lab, Dept of Paediatrics, Johannes Kepler University 0 1 0 0 1 0 0 1
Research Institute, Imperial College London Diabetes Centre 0 0 0 0 0 0 1 1
Human Genetics Bochum, Ruhr University Bochum 0 8 0 0 1 0 0 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 0 0 0 0 0 1 1
University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM) 0 0 0 1 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 5 0 1 0 0 0 1
Jiangsu Institute of Hematology, the First Affiliated Hospital of Soochow University 0 0 0 0 0 0 1 1
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska" 0 2 0 0 0 0 1 1
IU Genetic Testing Laboratories, Indiana University School of Medicine 0 0 0 1 0 0 1 1
ClinGen DICER1 and miRNA-Processing Gene Variant Curation Expert Panel, ClinGen 0 8 0 1 0 0 0 1
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences 0 0 0 0 1 0 0 1
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences 0 0 0 0 0 0 1 1
Cytogenetics, Genetics Associates, Inc. 0 0 0 1 0 0 1 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 1 0 0 1 0 0 1
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology 0 1 0 1 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 0 0 1 0 0 0 1
Chao Lab, Baylor College of Medicine, Texas Children's Hospital 0 0 0 1 0 0 1 1
Undiagnosed Rare Disease Clinic, Indiana University School of Medicine 0 0 0 0 0 0 1 1
Reference Center For Rare Oral And Dental Diseases, Crmr O-rares, Hôpitaux Universitaires De Strasbourg 0 0 0 0 1 0 0 1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 0 1 0 0 0 0 1 1
UAEU Genomics Laboratory, United Arab Emirates University 0 3 0 0 1 0 0 1
KardioGenetik, Herz- und Diabeteszentrum NRW 0 1 0 0 1 0 0 1
Integrating Genomics into Medicine, Frazer Institute, University Of Queensland 0 3 0 1 0 0 0 1
Faculty of Pharmacy, University of Ljubljana 0 0 0 0 1 0 0 1
Biotechnology Lab, University of Central Punjab 0 1 0 0 0 0 1 1
Center of Excellence in Clinical Pharmacokinetics and Pharmacogenomics, Faculty of Medicine, Chulalongkorn University 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 19140
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000363.5(TNNI3):c.373-10= rs7252610 0.99999
NM_020451.2(SELENON):c.-42T>C rs12121707 0.99972
NM_004525.3(LRP2):c.79+15A>G rs1559013 0.98894
NM_000207.3(INS):c.187+11T>C rs5506 0.93263
NM_012203.2(GRHPR):c.288-11C>T rs2736664 0.92549
NM_000369.5(TSHR):c.2181G>C (p.Glu727Asp) rs1991517 0.90865
NM_018100.4(EFHC1):c.*881A>T rs6926242 0.90714
NM_022336.4(EDAR):c.750C>T (p.Ser250=) rs260632 0.90287
NM_012203.2(GRHPR):c.579A>G (p.Ala193=) rs309458 0.85807
NM_003283.6(TNNT1):c.-20A>G rs9636153 0.84878
NM_018249.6(CDK5RAP2):c.865G>C (p.Glu289Gln) rs4836822 0.84114
NM_000038.6(APC):c.5465T>A (p.Val1822Asp) rs459552 0.82099
NM_000527.5(LDLR):c.*315G>C rs2738464 0.80309
NM_022124.6(CDH23):c.*349A>G rs1867978 0.77194
NM_000601.6(HGF):c.1272-4A>G rs1800793 0.76662
NM_000379.4(XDH):c.3276+12A>G rs1366813 0.75380
NM_000217.3(KCNA1):c.1440T>A (p.Thr480=) rs4766309 0.75219
NM_001366110.1(PAX4):c.986A>C (p.His329Pro) rs712701 0.74681
NM_000030.3(AGXT):c.*289A>C rs4344931 0.74589
NM_014336.5(AIPL1):c.651A>G (p.Pro217=) rs2292546 0.73525
NM_002185.5(IL7R):c.412G>A (p.Val138Ile) rs1494555 0.72524
NM_022336.4(EDAR):c.1056C>T (p.Cys352=) rs12623957 0.72397
NM_007078.3(LDB3):c.-24+8T>C rs2803558 0.72185
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu) rs5219 0.72048
NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser) rs757110 0.71935
NM_000525.4(KCNJ11):c.1009G>A (p.Val337Ile) rs5215 0.71351
NM_001130987.2(DYSF):c.1881T>C (p.Asp627=) rs2303596 0.71202
NM_018249.6(CDK5RAP2):c.4618G>C (p.Val1540Leu) rs4837768 0.70962
NM_006005.3(WFS1):c.2565A>G (p.Ser855=) rs1046316 0.70506
NM_001276345.2(TNNT2):c.348C>T (p.Ile116=) rs3729547 0.69444
NM_001130987.2(DYSF):c.2637A>T (p.Ser879=) rs2288355 0.69367
NM_002185.5(IL7R):c.197T>C (p.Ile66Thr) rs1494558 0.68368
NM_006005.3(WFS1):c.684C>G (p.Arg228=) rs1801213 0.68223
NM_000376.3(VDR):c.2T>C (p.Met1Thr) rs2228570 0.66221
NM_000152.5(GAA):c.668G>A (p.Arg223His) rs1042395 0.65662
NM_000527.5(LDLR):c.*666T>C rs1433099 0.65588
NM_213599.3(ANO5):c.*1286G>T rs7925081 0.65457
NM_006005.3(WFS1):c.1500C>T (p.Asn500=) rs1801214 0.63787
NM_000186.4(CFH):c.1204C>T (p.His402Tyr) rs1061170 0.63625
NM_006005.3(WFS1):c.461-9A>G rs10010131 0.63169
NM_000546.6(TP53):c.215C>G (p.Pro72Arg) rs1042522 0.62654
NM_014694.4(ADAMTSL2):c.2313A>G (p.Val771=) rs1064975 0.61566
NM_000540.3(RYR1):c.594A>G (p.Leu198=) rs2229139 0.60966
NM_014336.5(AIPL1):c.300A>G (p.Leu100=) rs8075035 0.60839
NM_000243.3(MEFV):c.*267G>A rs2741918 0.58813
NM_002470.4(MYH3):c.5457+9dup rs397750512 0.58793
NM_000243.3(MEFV):c.*245G>A rs2741919 0.58215
NM_006005.3(WFS1):c.2433G>A (p.Lys811=) rs1046314 0.57941
NM_000492.4(CFTR):c.1408G>A (p.Val470Met) rs213950 0.56732
NM_006005.3(WFS1):c.1185C>T (p.Val395=) rs1801206 0.56648
NM_032409.3(PINK1):c.*265G>T rs512550 0.56246
NM_001160372.4(TRAPPC9):c.207T>C (p.Gly69=) rs3735801 0.55959
NM_001160372.4(TRAPPC9):c.288T>C (p.Phe96=) rs3735802 0.55845
NM_000053.4(ATP7B):c.3903+6C>T rs2282057 0.53754
NM_213599.3(ANO5):c.*496A>G rs10766930 0.53080
NM_014336.5(AIPL1):c.277-10A>C rs12453262 0.52383
NM_000257.4(MYH7):c.189C>T (p.Thr63=) rs2069540 0.51584
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser) rs2239359 0.51262
NM_001953.5(TYMP):c.972C>T (p.Ala324=) rs131804 0.51130
NM_000153.4(GALC):c.1685T>C (p.Ile562Thr) rs398607 0.49946
NM_001605.3(AARS1):c.903C>T (p.His301=) rs2070203 0.49332
NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=) rs2303606 0.47852
NM_000217.3(KCNA1):c.684T>C (p.Cys228=) rs1048500 0.46819
NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp) rs7195066 0.46389
NM_207352.4(CYP4V2):c.64C>G (p.Leu22Val) rs1055138 0.46276
NM_001160372.4(TRAPPC9):c.411C>T (p.Asn137=) rs3735803 0.45974
NM_002454.3(MTRR):c.66A>G (p.Ile22Met) rs1801394 0.44947
NM_000492.4(CFTR):c.2562T>G (p.Thr854=) rs1042077 0.44737
NM_001202.6(BMP4):c.455T>C (p.Val152Ala) rs17563 0.44424
NM_001355436.2(SPTB):c.2154A>C (p.Ile718=) rs229591 0.44391
NM_002474.3(MYH11):c.5439G>A (p.Lys1813=) rs1050162 0.44262
NM_002474.3(MYH11):c.5478G>A (p.Leu1826=) rs1050163 0.44235
NM_006005.3(WFS1):c.1832G>A (p.Arg611His) rs734312 0.43085
NM_000257.4(MYH7):c.2967T>C (p.Ile989=) rs7157716 0.43030
NM_000214.3(JAG1):c.765C>T (p.Tyr255=) rs1131695 0.42930
NM_001355436.2(SPTB):c.1316G>A (p.Ser439Asn) rs229587 0.42630
NM_033337.3(CAV3):c.*645A>T rs11476 0.42415
NM_001355436.2(SPTB):c.300+7T>C rs229581 0.41899
NM_001113378.2(FANCI):c.3906T>C (p.Gly1302=) rs1138465 0.41848
NM_001355436.2(SPTB):c.4860T>C (p.Ile1620=) rs229592 0.41773
NM_020975.5(RET):c.-196C>A rs10900297 0.41632
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala) rs1801243 0.41549
NM_001355436.2(SPTB):c.4293A>G (p.Arg1431=) rs1626923 0.40570
NM_000186.4(CFH):c.184G>A (p.Val62Ile) rs800292 0.40446
NM_000352.6(ABCC8):c.3819G>A (p.Arg1273=) rs1799859 0.39734
NM_001232.4(CASQ2):c.1185C>T (p.Asp395=) rs7413162 0.39681
NM_033337.3(CAV3):c.*811C>G rs10882 0.39333
NM_002294.3(LAMP2):c.156A>T (p.Val52=) rs12097 0.39324
NM_001355436.2(SPTB):c.3451A>G (p.Asn1151Asp) rs77806 0.38794
NM_001365536.1(SCN9A):c.1266A>G (p.Glu422=) rs13402180 0.38348
NM_001365536.1(SCN9A):c.1119T>C (p.Ala373=) rs13414203 0.38341
NM_000540.3(RYR1):c.7835+5A>G rs1469695 0.38217
NM_000439.5(PCSK1):c.1650T>C (p.Asn550=) rs6233 0.38001
NM_182758.4(WDR72):c.917C>T (p.Pro306Leu) rs551225 0.37615
NM_000230.3(LEP):c.-39G>A rs2167270 0.37538
NM_000527.5(LDLR):c.1959T>C (p.Val653=) rs5925 0.37370
NM_000231.3(SGCG):c.*295T>C rs3829352 0.37163
NM_001355436.2(SPTB):c.876+5A>G rs230703 0.36832
NM_012463.4(ATP6V0A2):c.-14C>T rs1139320 0.36505
NM_001256715.2(DNAAF3):c.1239-8A>G rs28377509 0.36480
NM_014363.6(SACS):c.9981T>C (p.Ala3327=) rs2737700 0.36123
NM_198060.4(NRAP):c.*7del rs3832698 0.35956
NM_000237.3(LPL):c.*1671T>C rs13702 0.35875
NM_033337.3(CAV3):c.99C>T (p.Asn33=) rs1008642 0.35756
NM_000545.8(HNF1A):c.79A>C (p.Ile27Leu) rs1169288 0.35489
NM_000363.5(TNNI3):c.25-8T>A rs3729836 0.35138
NM_000751.3(CHRND):c.*885T>C rs1004175 0.34980
NM_017739.4(POMGNT1):c.681A>G (p.Lys227=) rs2292487 0.34915
NM_002778.4(PSAP):c.1351-14A>G rs4747203 0.34512
NM_001355436.2(SPTB):c.4476T>C (p.Leu1492=) rs1741487 0.34432
NM_001355436.2(SPTB):c.4482G>A (p.Val1494=) rs1741488 0.34424
NM_001355436.2(SPTB):c.4641G>A (p.Ala1547=) rs184528 0.34399
NM_001277115.2(DNAH11):c.3068T>C (p.Val1023Ala) rs10269582 0.34362
NM_002778.4(PSAP):c.*891G>A rs7869 0.34207
NM_000162.5(GCK):c.1253+8C>T rs2908274 0.34109
NM_000751.3(CHRND):c.*52A>G rs2767 0.34088
NM_000311.5(PRNP):c.385A>G (p.Met129Val) rs1799990 0.33516
NM_000540.3(RYR1):c.8190T>C (p.Asp2730=) rs2915951 0.33482
NM_000527.5(LDLR):c.1773C>T (p.Asn591=) rs688 0.33392
NM_000306.4(POU1F1):c.*140A>T rs33936108 0.33253
NM_000540.3(RYR1):c.7977G>A (p.Thr2659=) rs2229144 0.33092
NM_000540.3(RYR1):c.8118T>C (p.Ile2706=) rs2960340 0.33086
NM_002693.3(POLG):c.3105-11T>C rs2302084 0.32855
NM_004132.4(HABP2):c.-70T>C rs2240879 0.32584
NM_000540.3(RYR1):c.8589T>C (p.Ser2863=) rs2229146 0.32548
NM_000540.3(RYR1):c.9186A>G (p.Pro3062=) rs2071089 0.32394
NM_000540.3(RYR1):c.8693-10G>C rs2915958 0.32159
NM_000540.3(RYR1):c.8337G>A (p.Glu2779=) rs2915952 0.32150
NM_198904.4(GABRG2):c.588C>T (p.Asn196=) rs211037 0.31659
NM_145861.4(EDARADD):c.*1562T>C rs7513402 0.31448
NM_024006.6(VKORC1):c.174-136C>T rs9934438 0.31147
NM_000030.3(AGXT):c.*41C>A rs4273214 0.30802
NM_033337.3(CAV3):c.*783A>G rs7629329 0.30735
NM_003465.3(CHIT1):c.304G>A (p.Gly102Ser) rs2297950 0.29831
NM_138413.4(HOGA1):c.912C>A (p.Ala304=) rs12261752 0.29673
NM_000130.5(F5):c.5290A>G (p.Met1764Val) rs6030 0.29437
NM_001256715.2(DNAAF3):c.1056G>A (p.Pro352=) rs891187 0.29351
NM_000527.5(LDLR):c.*504G>A rs2738465 0.29077
NM_014363.6(SACS):c.-13A>G rs17078720 0.27905
NM_006702.5(PNPLA6):c.-96A>C rs604959 0.27892
NM_018719.5(CDCA7L):c.*980T>C rs7971 0.27747
NM_032409.3(PINK1):c.*672T>C rs2078073 0.27437
NM_032409.3(PINK1):c.*564T>G rs1043502 0.27404
NM_000257.4(MYH7):c.732C>T (p.Phe244=) rs2069542 0.27385
NM_032409.3(PINK1):c.1562A>C (p.Asn521Thr) rs1043424 0.27338
NM_032409.3(PINK1):c.*196T>C rs1043443 0.27336
NM_001256715.2(DNAAF3):c.666T>C (p.Ala222=) rs7260320 0.27290
NM_000350.3(ABCA4):c.1268A>G (p.His423Arg) rs3112831 0.25928
NM_002381.5(MATN3):c.1406-4C>T rs35973216 0.25515
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln) rs34787999 0.25357
NM_001355436.2(SPTB):c.1269G>A (p.Leu423=) rs229586 0.25102
NM_001256715.2(DNAAF3):c.875A>G (p.Glu292Gly) rs2365725 0.24847
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg) rs1805124 0.24768
NM_014694.4(ADAMTSL2):c.1090G>A (p.Val364Ile) rs35767802 0.24762
NM_001256715.2(DNAAF3):c.790-14C>T rs7260371 0.24759
NM_015192.4(PLCB1):c.2565G>A (p.Ala855=) rs2076413 0.24634
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602 0.24593
NM_000439.5(PCSK1):c.1993C>G (p.Gln665Glu) rs6234 0.23916
NM_014625.4(NPHS2):c.-51G>T rs12406197 0.23878
NM_033337.3(CAV3):c.123T>C (p.Phe41=) rs13087941 0.23875
NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=) rs1801574 0.23813
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058 0.23806
NM_002303.6(LEPR):c.1029T>C (p.Ser343=) rs1805134 0.23693
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=) rs17718530 0.23571
NM_001384474.1(LOXHD1):c.6183-11del rs143514947 0.23567
NM_000492.4(CFTR):c.4389G>A (p.Gln1463=) rs1800136 0.23407
NM_001277115.2(DNAH11):c.5621+11A>T rs59447021 0.23311
NM_000540.3(RYR1):c.7614+10C>G rs2960323 0.23284
NM_000070.3(CAPN3):c.706G>A (p.Ala236Thr) rs1801449 0.23274
NM_000335.5(SCN5A):c.*1453dup rs397763929 0.23236
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) rs144848 0.23116
NM_001099667.3(ARMS2):c.205G>T (p.Ala69Ser) rs10490924 0.22973
NM_002633.3(PGM1):c.661C>T (p.Arg221Cys) rs1126728 0.22903
NM_000439.5(PCSK1):c.2069G>C (p.Ser690Thr) rs6235 0.22796
NM_000525.4(KCNJ11):c.570C>T (p.Ala190=) rs5218 0.22765
NM_000527.5(LDLR):c.*773A>G rs2738466 0.22642
NM_001160372.4(TRAPPC9):c.1692C>T (p.Asn564=) rs12549048 0.22639
NM_000137.4(FAH):c.-178G>A rs56043846 0.22598
NM_000320.2(QDPR):c.-81delC rs67496406 0.22322
NM_007262.4(PARK7):c.-137G>A rs17523802 0.22239
NM_000249.3(MLH1):c.-93G>A rs1800734 0.22121
NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser) rs10151259 0.21790
NM_014363.6(SACS):c.6195T>C (p.Ile2065=) rs4143768 0.21785
NM_014363.6(SACS):c.8853T>C (p.Val2951=) rs9552929 0.21755
NM_014363.6(SACS):c.10106T>C (p.Val3369Ala) rs17078605 0.21747
NM_014363.6(SACS):c.12304T>C (p.Leu4102=) rs2737699 0.21736
NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) rs738409 0.21657
NM_182758.4(WDR72):c.2455C>T (p.Leu819Phe) rs17730281 0.21505
NM_000404.4(GLB1):c.1233+8T>C rs13093698 0.21250
NM_022436.3(ABCG5):c.1810C>G (p.Gln604Glu) rs6720173 0.21159
NM_000254.3(MTR):c.2756A>G (p.Asp919Gly) rs1805087 0.21137
NM_001142800.2(EYS):c.2024-14_2024-13insT rs142590049 0.21040
NM_000439.5(PCSK1):c.-101T>C rs6230 0.20956
NM_001317778.2(SFTPC):c.413C>A (p.Thr138Asn) rs4715 0.20729
NM_170707.4(LMNA):c.1698C>T (p.His566=) rs4641 0.20715
NM_001277115.2(DNAH11):c.7335G>A (p.Ser2445=) rs11768670 0.20699
NM_020975.6(RET):c.337+9G>A rs2435351 0.20641
NM_001035.3(RYR2):c.8873A>G (p.Gln2958Arg) rs34967813 0.20632
NM_000017.4(ACADS):c.625G>A (p.Gly209Ser) rs1799958 0.20617
NM_000350.3(ABCA4):c.5814A>G (p.Leu1938=) rs4147857 0.20473
NM_005422.4(TECTA):c.2795T>C (p.Val932Ala) rs520805 0.20376
NM_000350.3(ABCA4):c.5836-11G>A rs1800739 0.20309
NM_000439.5(PCSK1):c.*265T>C rs3811942 0.20188
NM_012144.4(DNAI1):c.1003G>A (p.Val335Ile) rs11793196 0.20136
NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=) rs2275029 0.19626
NM_014336.5(AIPL1):c.268G>C (p.Asp90His) rs12449580 0.19586
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421 0.19530
NM_006493.4(CLN5):c.956A>G (p.Lys319Arg) rs1800209 0.19521
NM_001130987.2(DYSF):c.6321+15C>T rs2559082 0.19470
NM_000027.4(AGA):c.281+13T>G rs34241758 0.19395
NM_018249.6(CDK5RAP2):c.2274T>C (p.Asp758=) rs2501727 0.18906
NM_000179.3(MSH6):c.116G>A (p.Gly39Glu) rs1042821 0.18742
NM_018100.4(EFHC1):c.573+10A>G rs9349626 0.18650
NM_058216.3(RAD51C):c.-26C>T rs12946397 0.18608
NM_006031.6(PCNT):c.6384A>G (p.Thr2128=) rs60444527 0.18604
NM_001130987.2(DYSF):c.4026C>T (p.Asn1342=) rs11558179 0.18595
NM_145861.4(EDARADD):c.369C>T (p.Asp123=) rs604070 0.18581
NM_170707.4(LMNA):c.861T>C (p.Ala287=) rs538089 0.18331
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.18094
NM_015192.4(PLCB1):c.102C>T (p.Asp34=) rs16994453 0.18027
NM_175914.5(HNF4A):c.50-5C>T rs745975 0.17964
NM_002381.4(MATN3):c.-76C>A rs188620236 0.17745
NM_145861.4(EDARADD):c.*1787C>T rs6428955 0.17627
NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile) rs6666652 0.17582
NM_001355436.2(SPTB):c.6023-8C>T rs56181906 0.17449
NM_001355436.2(SPTB):c.6269+13C>T rs11622977 0.17268
NM_001355436.2(SPTB):c.5799-7C>T rs7142689 0.17051
NM_004360.5(CDH1):c.*54C>T rs1801026 0.17023
NM_000335.5(SCN5A):c.1141-3C>A rs41312433 0.16821
NM_002778.4(PSAP):c.1350+5G>A rs11000016 0.16762
NM_000222.3(KIT):c.2586G>C (p.Leu862=) rs3733542 0.16755
NM_000207.3(INS):c.*9C>T rs3842752 0.16663
NM_002469.3(MYF6):c.*152C>A rs3120 0.16661
NM_020975.6(RET):c.2071G>A (p.Gly691Ser) rs1799939 0.16640
NM_003465.3(CHIT1):c.1049_1072dup (p.Trp358Ter) rs3831317 0.16576
NM_000540.3(RYR1):c.7863C>T (p.His2621=) rs2229142 0.16420
NM_000281.3(PCBD1):c.-46G>A rs827237 0.16408
NM_014694.4(ADAMTSL2):c.1641C>T (p.His547=) rs7868941 0.16167
NM_014236.4(GNPAT):c.1556A>G (p.Asp519Gly) rs11558492 0.15938
NM_003690.5(PRKRA):c.-24G>A rs62176113 0.15636
NM_012472.6(DNAAF11):c.1397T>C (p.Ile466Thr) rs9297853 0.15619
NM_001040436.3(YARS2):c.*209G>C rs10844337 0.15609
NM_012062.5(DNM1L):c.*271C>G rs1020670 0.15598
NM_012062.5(DNM1L):c.*21G>C rs1059422 0.15548
NM_012062.5(DNM1L):c.*22A>T rs3200103 0.15544
NM_004181.5(UCHL1):c.53C>A (p.Ser18Tyr) rs5030732 0.15471
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met) rs4426527 0.15412
NM_000030.3(AGXT):c.264C>T (p.Ala88=) rs35698882 0.15328
NM_000231.3(SGCG):c.228T>C (p.Asp76=) rs1800350 0.15152
NM_000059.4(BRCA2):c.*105A>C rs15869 0.15131
NM_007214.5(SEC63):c.1936-7_1936-5dup rs766716921 0.15112
NM_000231.3(SGCG):c.-88G>A rs4770403 0.15108
NM_001130987.2(DYSF):c.1276+11C>T rs35982795 0.15096
NM_001277115.2(DNAH11):c.1916A>G (p.Gln639Arg) rs12670130 0.14853
NM_000030.3(AGXT):c.358+13C>T rs34995778 0.14826
NM_021922.3(FANCE):c.1504G>A (p.Ala502Thr) rs9462088 0.14730
NM_032409.3(PINK1):c.*415C>G rs8064 0.14517
NM_001040436.3(YARS2):c.*643G>A rs11052214 0.14502
NM_001040436.3(YARS2):c.291C>T (p.Gly97=) rs11539444 0.14354
NM_001130987.2(DYSF):c.396C>T (p.Pro132=) rs34603128 0.14353
NM_012062.5(DNM1L):c.*1242G>A rs10844336 0.14342
NM_001317778.2(SFTPC):c.*173C>T rs1126931 0.14333
NM_013382.7(POMT2):c.1654-6A>G rs4540995 0.14330
NM_015272.5(RPGRIP1L):c.3428C>G (p.Thr1143Ser) rs111775292 0.14328
NM_001114753.3(ENG):c.207G>A (p.Leu69=) rs11545664 0.14184
NM_001002294.3(FMO3):c.923A>G (p.Glu308Gly) rs2266780 0.14140
NM_003619.4(PRSS12):c.1816G>T (p.Ala606Ser) rs28661939 0.14124
NM_000130.5(F5):c.319G>C (p.Asp107His) rs6019 0.14054
NM_000306.4(POU1F1):c.*139T>A rs4988463 0.14040
NM_018648.3(NOP10):c.-95T>C rs2169480 0.13873
NM_001277115.2(DNAH11):c.11202+13G>A rs73279830 0.13824
NM_022124.6(CDH23):c.*204A>G rs2290022 0.13799
NM_001130987.2(DYSF):c.888+11T>C rs13428076 0.13574
NM_000235.4(LIPA):c.67G>A (p.Gly23Arg) rs1051339 0.13459
NM_014363.6(SACS):c.171+6C>T rs3751368 0.13441
NM_000350.3(ABCA4):c.6249C>T (p.Ile2083=) rs1801359 0.13311
NM_000350.3(ABCA4):c.6282+7G>A rs17110761 0.13306
NM_001039958.2(MESP2):c.573G>A (p.Gly191=) rs113097169 0.13255
NM_017875.4(SLC25A38):c.*588T>A rs6890 0.12968
NM_014694.4(ADAMTSL2):c.2022C>T (p.Pro674=) rs534165083 0.12965
NM_014694.4(ADAMTSL2):c.2613G>A (p.Val871=) rs62637566 0.12851
NM_006493.4(CLN5):c.*292G>A rs700363 0.12838
NM_006493.4(CLN5):c.-144C>T rs77416795 0.12832
NM_000016.6(ACADM):c.-362T>C rs1251076 0.12826
NM_000030.3(AGXT):c.654G>A (p.Ser218=) rs33958047 0.12652
NM_213607.3(CCDC103):c.276+6T>C rs74349463 0.12539
NM_000540.3(RYR1):c.10687-7C>T rs2960354 0.12378
NM_006757.4(TNNT3):c.762C>T (p.Gly254=) rs4727 0.12344
NM_001077365.2(POMT1):c.699+52C>T rs3887873 0.12205
NM_001277115.2(DNAH11):c.1065A>G (p.Pro355=) rs4392792 0.12205
NM_152443.3(RDH12):c.482G>A (p.Arg161Gln) rs17852293 0.12044
NM_000271.4(NPC1):c.-238C>G rs8099071 0.11990
NM_000104.4(CYP1B1):c.1358A>G (p.Asn453Ser) rs1800440 0.11965
NM_016277.5(RAB23):c.619G>A (p.Gly207Ser) rs1040461 0.11850
NM_001710.5(CFB):c.95G>A (p.Arg32Gln) rs641153 0.11820
NM_001277115.2(DNAH11):c.7570T>C (p.Leu2524=) rs2072220 0.11781
NM_001277115.2(DNAH11):c.5490G>A (p.Leu1830=) rs55666134 0.11626
NM_003283.6(TNNT1):c.47-13C>T rs11669534 0.11553
NM_000153.4(GALC):c.742G>A (p.Asp248Asn) rs34362748 0.11424
NM_001042432.2(CLN3):c.1211A>G (p.His404Arg) rs77595156 0.11421
NM_001277115.2(DNAH11):c.1961C>G (p.Ser654Cys) rs62441683 0.11359
NM_017668.3(NDE1):c.*899C>A rs79015533 0.11286
NM_198578.4(LRRK2):c.7155A>G (p.Gly2385=) rs33962975 0.11278
NM_138711.6(PPARG):c.1341C>T (p.His447=) rs3856806 0.11181
NM_022124.6(CDH23):c.8895C>T (p.Pro2965=) rs11000009 0.10990
NM_015272.5(RPGRIP1L):c.3936C>T (p.Asp1312=) rs4784320 0.10935
NM_000081.4(LYST):c.2355T>C (p.Leu785=) rs3768066 0.10928
NM_015272.5(RPGRIP1L):c.3073G>A (p.Gly1025Ser) rs2111119 0.10881
NM_022124.6(CDH23):c.9319+11G>A rs11000013 0.10868
NM_001160372.4(TRAPPC9):c.2292C>T (p.Gly764=) rs11166965 0.10684
NM_001232.4(CASQ2):c.*138T>C rs28730710 0.10658
NM_000214.3(JAG1):c.588C>T (p.Cys196=) rs1801138 0.10620
NM_000141.5(FGFR2):c.557T>C (p.Met186Thr) rs755793 0.10553
NM_002693.3(POLG):c.3643+258A>G rs1860021 0.10541
NM_000435.3(NOTCH3):c.3058G>C (p.Ala1020Pro) rs35769976 0.10508
NM_000255.4(MMUT):c.1495G>A (p.Ala499Thr) rs2229385 0.10476
NM_001277115.2(DNAH11):c.3256-10C>G rs17745898 0.10468
NM_001369.3(DNAH5):c.11372C>T (p.Thr3791Ile) rs17263496 0.10451
NM_033337.3(CAV3):c.*543T>C rs13093809 0.10412
NM_003283.6(TNNT1):c.129-9T>G rs67795913 0.10318
NM_000113.3(TOR1A):c.646G>C (p.Asp216His) rs1801968 0.10301
NM_000540.3(RYR1):c.7098C>T (p.Pro2366=) rs2229147 0.10248
NM_000222.3(KIT):c.*217G>A rs17084733 0.10193
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_014336.4(AIPL1):c.-106C>A rs7211442 0.10081
NM_001377.3(DYNC2H1):c.8580A>G (p.Glu2860=) rs17394217 0.10011
NM_000231.3(SGCG):c.347G>A (p.Arg116His) rs17314986 0.09986
NM_213599.3(ANO5):c.*1521T>C rs73483433 0.09970
NM_001277115.2(DNAH11):c.54C>T (p.Thr18=) rs2285942 0.09968
NM_001130987.2(DYSF):c.951+4T>C rs11903960 0.09951
NM_000709.3(BCKDHA):c.-34T>G rs45500792 0.09943
NM_000337.6(SGCD):c.*4092A>G rs56389540 0.09897
NM_213599.3(ANO5):c.*1313A>G rs73483432 0.09785
NM_000601.6(HGF):c.333A>G (p.Glu111=) rs5745635 0.09752
NM_013296.5(GPSM2):c.380G>A (p.Arg127Gln) rs41279678 0.09671
NM_000256.3(MYBPC3):c.706A>G (p.Ser236Gly) rs3729989 0.09621
NM_000070.3(CAPN3):c.96T>C (p.Thr32=) rs1801496 0.09551
NM_001367624.2(ZNF469):c.1489G>A (p.Gly497Arg) rs28723506 0.09509
NM_018648.4(NOP10):c.*149G>A rs7173 0.09458
NM_015192.4(PLCB1):c.1251-4T>G rs2076689 0.09450
NM_001367624.2(ZNF469):c.6470G>A (p.Arg2157Lys) rs13334190 0.09442
NM_006118.4(HAX1):c.159T>C (p.Ser53=) rs13796 0.09423
NM_000350.3(ABCA4):c.1269C>T (p.His423=) rs4147831 0.09402
NM_001953.5(TYMP):c.1412C>T (p.Ser471Leu) rs11479 0.09354
NM_000081.4(LYST):c.4392C>T (p.Asn1464=) rs11583387 0.09239
NM_001384474.1(LOXHD1):c.2175C>T (p.Asn725=) rs2086005 0.09206
NM_006493.4(CLN5):c.*155C>T rs700365 0.09182
NM_000426.4(LAMA2):c.3412G>A (p.Val1138Met) rs2306942 0.09135
NM_018100.4(EFHC1):c.*871C>G rs78956562 0.09084
NM_018249.6(CDK5RAP2):c.4041G>A (p.Leu1347=) rs6478475 0.09053
NM_001377.3(DYNC2H1):c.5558+4A>G rs11225578 0.09042
NM_001377.3(DYNC2H1):c.1021C>T (p.His341Tyr) rs17301182 0.08896
NM_001160372.4(TRAPPC9):c.399T>C (p.Ala133=) rs61739560 0.08885
NM_001160372.4(TRAPPC9):c.555G>A (p.Lys185=) rs57593250 0.08881
NM_001160372.4(TRAPPC9):c.357G>A (p.Gly119=) rs34457678 0.08878
NM_138711.6(PPARG):c.-8-28078C>G rs1801282 0.08816
NM_005144.5(HR):c.3064A>G (p.Thr1022Ala) rs7014851 0.08773
NM_001377.3(DYNC2H1):c.3862A>G (p.Thr1288Ala) rs17301750 0.08745
NM_014625.4(NPHS2):c.1038A>G (p.Leu346=) rs3818587 0.08745
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=) rs2290021 0.08719
NM_014625.4(NPHS2):c.288C>T (p.Ser96=) rs3738423 0.08705
NM_002474.3(MYH11):c.987C>T (p.Thr329=) rs4781689 0.08684
NM_000337.6(SGCD):c.*3650G>T rs72803044 0.08674
NM_000498.3(CYP11B2):c.1157T>C (p.Val386Ala) rs61757294 0.08654
NM_001277115.2(DNAH11):c.11272T>C (p.Ser3758Pro) rs17145720 0.08574
NM_014363.6(SACS):c.696T>A (p.Asn232Lys) rs2031640 0.08558
NM_014363.6(SACS):c.1656A>G (p.Leu552=) rs1536365 0.08543
NM_000186.4(CFH):c.3019G>T (p.Val1007Leu) rs534399 0.08522
NM_033100.4(CDHR1):c.863-9C>T rs4933977 0.08466
NM_033337.3(CAV3):c.27C>T (p.Leu9=) rs1974763 0.08452
NM_025219.3(DNAJC5):c.*1442A>G rs61744085 0.08435
NM_000214.3(JAG1):c.2214A>C (p.Thr738=) rs1801140 0.08364
NM_000368.5(TSC1):c.2829C>T (p.Ala943=) rs4962081 0.08329
NM_006158.5(NEFL):c.1170-13T>C rs76347846 0.08329
NM_001276345.2(TNNT2):c.237G>A (p.Ser79=) rs3729845 0.08311
NM_000214.3(JAG1):c.267G>A (p.Gly89=) rs1051415 0.08298
NM_025219.3(DNAJC5):c.*2711G>A rs76291580 0.08294
NM_000337.6(SGCD):c.*3962G>A rs56182215 0.08205
NM_002386.4(MC1R):c.178G>T (p.Val60Leu) rs1805005 0.08197
NM_000337.6(SGCD):c.*3687A>G rs72803046 0.08194
NM_001367624.2(ZNF469):c.*46C>A rs78600508 0.08121
NM_006493.4(CLN5):c.*33A>G rs9573974 0.08077
NM_000110.4(DPYD):c.496A>G (p.Met166Val) rs2297595 0.08071
NM_001160372.4(TRAPPC9):c.2799= (p.Gly933=) rs2614718 0.08065
NM_000091.5(COL4A3):c.1352A>G (p.His451Arg) rs11677877 0.08050
NM_001378373.1(MBL2):c.170G>A (p.Gly57Glu) rs1800451 0.08024
NM_017433.5(MYO3A):c.624C>T (p.Asp208=) rs35010955 0.08016
NM_012062.5(DNM1L):c.*600C>T rs3600 0.08008
NM_018100.4(EFHC1):c.1343T>C (p.Met448Thr) rs1266787 0.07947
NM_000602.5(SERPINE1):c.43G>A (p.Ala15Thr) rs6092 0.07905
NM_000709.4(BCKDHA):c.116C>A (p.Pro39His) rs11549936 0.07892
NM_000218.3(KCNQ1):c.1590+14T>C rs11024034 0.07860
NM_006493.4(CLN5):c.-76A>G rs7987664 0.07840
NM_022124.6(CDH23):c.*510G>A rs1054635 0.07812
NM_000350.3(ABCA4):c.*372A>G rs3747961 0.07805
NM_002474.3(MYH11):c.5517G>A (p.Ala1839=) rs28505375 0.07791
NM_000295.5(SERPINA1):c.*1331G>A rs11568814 0.07789
NM_000129.4(F13A1):c.1704A>G (p.Glu568=) rs5986 0.07753
NM_000222.3(KIT):c.1621A>C (p.Met541Leu) rs3822214 0.07727
NM_198904.4(GABRG2):c.315C>T (p.Asn105=) rs11135176 0.07676
NM_018206.6(VPS35):c.*283del rs886052005 0.07609
NM_003865.3(HESX1):c.374A>G (p.Asn125Ser) rs9878928 0.07568
NM_000179.2(MSH6):c.-159C>T rs41540312 0.07535
NM_000091.5(COL4A3):c.1452G>A (p.Gly484=) rs34019152 0.07474
NM_000492.4(CFTR):c.3870A>G (p.Pro1290=) rs1800130 0.07467
NM_020779.4(WDR35):c.53A>G (p.Gln18Arg) rs1060742 0.07465
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln) rs10254120 0.07445
NM_000363.5(TNNI3):c.-35C>A rs3729707 0.07367
NM_000207.3(INS):c.-18+4_-18+5insTTGC rs3842740 0.07357
NM_022336.4(EDAR):c.357-4G>A rs748225 0.07354
NM_000363.5(TNNI3):c.150+13G>A rs73617692 0.07353
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln) rs35953626 0.07232
NM_001145308.5(LRTOMT):c.69G>C (p.Leu23=) rs12272086 0.07159
NM_001277115.2(DNAH11):c.2835A>G (p.Gln945=) rs17144747 0.07116
NM_147127.5(EVC2):c.-15G>A rs76269601 0.07112
NM_018249.6(CDK5RAP2):c.480A>C (p.Leu160=) rs3750494 0.07110
NM_001384474.1(LOXHD1):c.5399+13G>A rs59128481 0.07068
NM_201253.3(CRB1):c.*28T>C rs41302107 0.07060
NM_001377.3(DYNC2H1):c.12457-6C>T rs11225812 0.07031
NM_001384474.1(LOXHD1):c.4868A>G (p.Glu1623Gly) rs12606417 0.06993
NM_000214.3(JAG1):c.744A>G (p.Pro248=) rs10485741 0.06947
NM_001368067.1(LDB3):c.504T>C (p.Asp168=) rs76615432 0.06909
NM_022436.3(ABCG5):c.148C>T (p.Arg50Cys) rs6756629 0.06901
NM_007078.3(LDB3):c.690-4842G>A rs113445294 0.06823
NM_006005.3(WFS1):c.2322G>A (p.Lys774=) rs2230721 0.06809
NM_003283.6(TNNT1):c.35A>G (p.Glu12Gly) rs112562759 0.06801
NM_001114753.3(ENG):c.1029C>T (p.Thr343=) rs3739817 0.06792
NM_017433.5(MYO3A):c.660C>T (p.Ala220=) rs34067308 0.06790
NM_001367624.2(ZNF469):c.7508C>A (p.Ala2503Glu) rs141218390 0.06780
NM_001365536.1(SCN9A):c.3802-4A>G rs75230218 0.06754
NM_203486.3(DLL3):c.425T>A (p.Leu142Gln) rs55741253 0.06752
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu) rs2227935 0.06742
NM_021939.4(FKBP10):c.590A>G (p.Lys197Arg) rs34764749 0.06739
NM_020208.4(SLC6A20):c.596C>T (p.Thr199Met) rs17279437 0.06722
NM_025219.3(DNAJC5):c.*1303C>T rs41278214 0.06711
NM_004320.6(ATP2A1):c.1764+6del rs66716803 0.06704
NM_025219.3(DNAJC5):c.*2725G>A rs11554628 0.06691
NM_002615.6(SERPINF1):c.-86C>A rs9913583 0.06657
NM_001365536.1(SCN9A):c.4812G>T (p.Val1604=) rs149207258 0.06646
NM_001355436.2(SPTB):c.4208G>A (p.Arg1403Gln) rs17180350 0.06645
NM_003018.3(SFTPC):c.-134G>C rs28438700 0.06596
NM_000751.3(CHRND):c.*424C>T rs4973046 0.06579
NM_022437.3(ABCG8):c.55G>C (p.Asp19His) rs11887534 0.06566
NM_000169.3(GLA):c.-12G>A rs3027585 0.06554
NM_000540.3(RYR1):c.7089C>T (p.Cys2363=) rs2228071 0.06536
NM_144508.5(KNL1):c.4339A>G (p.Thr1447Ala) rs16970911 0.06529
NM_000784.4(CYP27A1):c.438G>A (p.Pro146=) rs692003 0.06494
NM_001377.3(DYNC2H1):c.21C>T (p.Asp7=) rs17301028 0.06471
NM_001195248.2(APTX):c.484-12_484-11insG rs377129152 0.06469
NM_001130987.2(DYSF):c.1038C>T (p.His346=) rs36122356 0.06463
NM_000527.5(LDLR):c.*141G>A rs3826810 0.06460
NM_000337.6(SGCD):c.*7300C>A rs72803048 0.06455
NM_000257.4(MYH7):c.*113G>A rs17794387 0.06427
NM_021728.4(OTX2):c.*10G>A rs171978 0.06420
NM_032444.4(SLX4):c.1371T>G (p.Asn457Lys) rs74319927 0.06397
NM_000186.4(CFH):c.2669G>T (p.Ser890Ile) rs515299 0.06393
NM_000337.5(SGCD):c.-303A>T rs7725121 0.06375
NM_000130.5(F5):c.1238T>C (p.Met413Thr) rs6033 0.06350
NM_002529.4(NTRK1):c.1806-4del rs1799770 0.06316
NM_018100.4(EFHC1):c.1855A>C (p.Ile619Leu) rs17851770 0.06310
NM_004076.5(CRYBB3):c.471-6C>T rs13055430 0.06273
NM_004278.4(PIGL):c.*86A>G rs2302314 0.06241
NM_017433.5(MYO3A):c.2497G>T (p.Ala833Ser) rs33947968 0.06209
NM_001256715.2(DNAAF3):c.1164-14C>T rs60176657 0.06188
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg) rs696723 0.06184
NM_001002294.3(FMO3):c.769G>A (p.Val257Met) rs1736557 0.06174
NM_001909.5(CTSD):c.173C>T (p.Ala58Val) rs17571 0.06134
NM_000257.4(MYH7):c.1062C>T (p.Gly354=) rs735712 0.06133
NM_001927.4(DES):c.578+11G>A rs111548596 0.06130
NM_020247.5(COQ8A):c.*681G>A rs10482 0.06118
NM_025219.3(DNAJC5):c.*2208C>T rs11554631 0.06117
NM_001035.3(RYR2):c.5656G>A (p.Gly1886Ser) rs3766871 0.06110
NM_025219.3(DNAJC5):c.*2601C>T rs112103063 0.06085
NM_000552.5(VWF):c.6554G>A (p.Arg2185Gln) rs2229446 0.06069
NM_001367624.2(ZNF469):c.8330A>T (p.Asp2777Val) rs3812954 0.06060
NM_001355436.2(SPTB):c.4003-12T>C rs78707026 0.06057
NM_001277115.2(DNAH11):c.13502A>G (p.Lys4501Arg) rs77448980 0.06056
NM_020533.3(MCOLN1):c.966A>C (p.Arg322=) rs61736600 0.06042
NM_022356.4(P3H1):c.*77C>T rs13871 0.06035
NM_001355436.2(SPTB):c.408C>T (p.His136=) rs11623956 0.06031
NM_001355436.2(SPTB):c.4222G>C (p.Gly1408Arg) rs17245552 0.06024
NM_022356.4(P3H1):c.1045G>A (p.Gly349Arg) rs6700677 0.06024
NM_001367624.2(ZNF469):c.3516T>C (p.Arg1172=) rs111557381 0.06017
NM_001256715.2(DNAAF3):c.510A>G (p.Val170=) rs56726774 0.06016
NM_001379180.1(ESRRB):c.1219C>T (p.Pro407Ser) rs61742642 0.06008
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys) rs11258194 0.05969
NM_022336.4(EDAR):c.1109T>C (p.Val370Ala) rs3827760 0.05968
NM_001276345.2(TNNT2):c.788A>G (p.Lys263Arg) rs3730238 0.05965
NM_001355436.2(SPTB):c.4818C>T (p.Tyr1606=) rs4899145 0.05960
NM_000022.4(ADA):c.239A>G (p.Lys80Arg) rs11555566 0.05947
NM_000031.6(ALAD):c.177G>C (p.Lys59Asn) rs1800435 0.05916
NM_001368894.2(PAX6):c.808-12C>T rs667773 0.05916
NM_022356.4(P3H1):c.1647G>A (p.Met549Ile) rs11581921 0.05897
NM_001384474.1(LOXHD1):c.1087G>A (p.Val363Ile) rs10163657 0.05881
NM_000135.4(FANCA):c.3982A>G (p.Thr1328Ala) rs9282681 0.05868
NM_001355436.2(SPTB):c.4564-4G>A rs4902312 0.05860
NM_001355436.2(SPTB):c.4779A>G (p.Ala1593=) rs4902310 0.05857
NM_001355436.2(SPTB):c.4752C>T (p.Asn1584=) rs4902311 0.05828
NM_000726.5(CACNB4):c.1239G>A (p.Leu413=) rs1805028 0.05818
NM_001355436.2(SPTB):c.5535C>T (p.Leu1845=) rs17180252 0.05745
NM_000379.4(XDH):c.2107A>G (p.Ile703Val) rs17011368 0.05740
NM_022367.4(SEMA4A):c.*37T>C rs41265023 0.05725
NM_024809.5(TCTN2):c.*87C>T rs113292231 0.05704
NM_000304.4(PMP22):c.*228G>A rs1804193 0.05698
NM_015192.4(PLCB1):c.2082G>A (p.Gly694=) rs3761170 0.05661
NM_001256715.2(DNAAF3):c.1001T>C (p.Leu334Pro) rs890871 0.05642
NM_001256715.2(DNAAF3):c.327A>G (p.Arg109=) rs3848618 0.05626
NM_001256715.2(DNAAF3):c.529G>A (p.Gly177Ser) rs58824375 0.05620
NM_000726.5(CACNB4):c.762T>A (p.Ile254=) rs61736804 0.05586
NM_000249.4(MLH1):c.1558+14G>A rs41562513 0.05554
NM_052945.4(TNFRSF13C):c.62C>G (p.Pro21Arg) rs77874543 0.05538
NM_003172.4(SURF1):c.573C>G (p.Thr191=) rs28715079 0.05492
NM_001943.5(DSG2):c.2137G>A (p.Glu713Lys) rs79241126 0.05477
NM_005138.3(SCO2):c.582C>T (p.Ser194=) rs131811 0.05449
NM_000231.3(SGCG):c.*13C>T rs9510701 0.05421
NM_001277115.2(DNAH11):c.4904A>G (p.Asp1635Gly) rs17144835 0.05345
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe) rs17233497 0.05303
NM_000070.3(CAPN3):c.606T>C (p.Ser202=) rs17593 0.05293
NM_001277115.2(DNAH11):c.11325G>A (p.Ala3775=) rs12666072 0.05248
NM_000404.4(GLB1):c.1594A>G (p.Ser532Gly) rs73826339 0.05158
NM_000325.6(PITX2):c.*454C>T rs6533526 0.05143
NM_001844.5(COL2A1):c.1836T>C (p.Gly612=) rs41317939 0.05124
NM_000487.6(ARSA):c.*96A>G rs6151429 0.05120
NM_001317778.2(SFTPC):c.201+14G>A rs8192327 0.05091
NM_000352.6(ABCC8):c.4714G>A (p.Val1572Ile) rs8192690 0.05059
NM_000342.4(SLC4A1):c.166A>G (p.Lys56Glu) rs5036 0.05002
NM_002633.3(PGM1):c.1501G>A (p.Val501Ile) rs6676290 0.04986
NM_006005.3(WFS1):c.1367G>A (p.Arg456His) rs1801208 0.04977
NM_003172.4(SURF1):c.280T>C (p.Leu94=) rs28615629 0.04975
NM_000135.4(FANCA):c.542C>T (p.Ala181Val) rs17232246 0.04972
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071 0.04969
NM_001378373.1(MBL2):c.154C>T (p.Arg52Cys) rs5030737 0.04964
NM_015506.3(MMACHC):c.811A>G (p.Ser271Gly) rs35219601 0.04960
NM_000350.3(ABCA4):c.635G>A (p.Arg212His) rs6657239 0.04939
NM_213599.3(ANO5):c.*3152G>A rs79486036 0.04921
NM_000016.6(ACADM):c.-401G>A rs114005461 0.04873
NM_001232.4(CASQ2):c.1194T>C (p.Asp398=) rs28730711 0.04871
NM_014049.5(ACAD9):c.-44_-41dup rs387906242 0.04863
NM_002386.4(MC1R):c.478C>T (p.Arg160Trp) rs1805008 0.04851
NM_000037.4(ANK1):c.1856G>A (p.Arg619His) rs2304877 0.04842
NM_000260.4(MYO7A):c.5156A>G (p.Tyr1719Cys) rs77625410 0.04825
NM_003690.5(PRKRA):c.549T>C (p.Asn183=) rs61746229 0.04819
NM_000214.3(JAG1):c.2612C>G (p.Pro871Arg) rs35761929 0.04795
NM_016203.3(PRKAG2):c.-560C>T rs117728810 0.04777
NM_012203.2(GRHPR):c.734+9G>A rs56401536 0.04769
NM_001202.6(BMP4):c.*148_*149del rs140085940 0.04744
NM_000540.3(RYR1):c.6178G>T (p.Gly2060Cys) rs35364374 0.04719
NM_000487.6(ARSA):c.1493G>A (p.Arg498His) rs6151428 0.04709
NM_001366110.1(PAX4):c.474C>T (p.Gly158=) rs77039439 0.04703
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950 0.04695
NM_130849.4(SLC39A4):c.1141A>G (p.Thr381Ala) rs75920625 0.04681
NM_015272.5(RPGRIP1L):c.3790G>A (p.Asp1264Asn) rs3213758 0.04663
NM_003690.5(PRKRA):c.1A>C (p.Met1Leu) rs9406386 0.04659
NM_000264.5(PTCH1):c.3583A>T (p.Thr1195Ser) rs2236405 0.04656
NM_006206.6(PDGFRA):c.368-3C>T rs55947416 0.04647
NM_000540.3(RYR1):c.13317C>T (p.Ala4439=) rs113579185 0.04642
NM_000070.3(CAPN3):c.2380+12del rs28364538 0.04623
NM_000037.4(ANK1):c.*238T>C rs72638944 0.04617
NM_001114753.3(ENG):c.14C>T (p.Thr5Met) rs35400405 0.04608
NM_000112.4(SLC26A2):c.*1892dup rs148778566 0.04587
NM_001202.6(BMP4):c.*88C>T rs74054236 0.04584
NM_004076.5(CRYBB3):c.314G>A (p.Arg105Gln) rs17670506 0.04579
NM_003721.4(RFXANK):c.213C>T (p.Thr71=) rs72997200 0.04571
NM_145861.4(EDARADD):c.*1593G>T rs61736989 0.04569
NM_001367624.2(ZNF469):c.1285G>A (p.Ala429Thr) rs113937803 0.04541
NM_000016.6(ACADM):c.-142C>G rs61124994 0.04520
NM_001146079.2(CLDN14):c.11C>T (p.Thr4Met) rs113831133 0.04508
NM_000439.5(PCSK1):c.612C>T (p.Asn204=) rs6231 0.04494
NM_001355436.2(SPTB):c.177C>T (p.Thr59=) rs2277503 0.04465
NM_000399.5(EGR2):c.1086A>C (p.Arg362=) rs45602133 0.04462
NM_000037.4(ANK1):c.450A>G (p.Val150=) rs6982971 0.04455
NM_000135.4(FANCA):c.24C>G (p.Asn8Lys) rs76275444 0.04436
NM_001377.3(DYNC2H1):c.911A>T (p.Gln304Leu) rs12146610 0.04434
NM_001379610.1(SPINK1):c.174C>T (p.Cys58=) rs35737774 0.04434
NM_018100.3(EFHC1):c.-195A>G rs2296196 0.04417
NM_145861.4(EDARADD):c.-3G>A rs79233817 0.04402
NM_003721.4(RFXANK):c.144G>C (p.Glu48Asp) rs34282046 0.04400
NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly) rs17154335 0.04399
NM_018972.4(GDAP1):c.*1489del rs34856543 0.04395
NM_015192.4(PLCB1):c.99+8T>C rs6086350 0.04369
NM_000492.4(CFTR):c.-8G>C rs1800501 0.04368
NM_000239.3(LYZ):c.263C>A (p.Thr88Asn) rs1800973 0.04360
NM_001130987.2(DYSF):c.2554A>G (p.Ile852Val) rs34671418 0.04349
NM_001164508.2(NEB):c.20467-4T>A rs199791504 0.04348
NM_003283.6(TNNT1):c.33-8G>A rs76630067 0.04332
NM_000601.6(HGF):c.910G>A (p.Glu304Lys) rs5745687 0.04328
NM_000942.4(PPIB):c.-171C>T rs112481305 0.04313
NM_000942.4(PPIB):c.-181G>A rs113066141 0.04306
NM_000037.4(ANK1):c.909+7A>G rs17661203 0.04301
NM_000337.6(SGCD):c.290G>A (p.Arg97Gln) rs45559835 0.04292
NM_022356.4(P3H1):c.139G>T (p.Ala47Ser) rs55716016 0.04262
NM_020975.6(RET):c.*1969T>C rs3026785 0.04255
NM_001077365.2(POMT1):c.913G>A (p.Val305Ile) rs4740164 0.04243
NM_000540.3(RYR1):c.13671C>G (p.Ser4557=) rs35959206 0.04188
NM_001277115.2(DNAH11):c.1702G>A (p.Ala568Thr) rs72655988 0.04164
NM_213599.3(ANO5):c.*3121A>G rs35827261 0.04156
NM_001367624.2(ZNF469):c.1143C>A (p.Pro381=) rs74032864 0.04134
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val) rs35719359 0.04130
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466 0.04126
NM_014324.6(AMACR):c.*617G>T rs12659370 0.04114
NM_001277115.2(DNAH11):c.1199C>T (p.Thr400Ile) rs72655982 0.04096
NM_130849.4(SLC39A4):c.63G>C (p.Thr21=) rs13251676 0.04058
NM_002633.3(PGM1):c.1145-7C>G rs72922609 0.04055
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309 0.04051
NM_000363.5(TNNI3):c.204G>T (p.Arg68=) rs3729711 0.04033
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu) rs45583140 0.04021
NM_001953.5(TYMP):c.1393G>A (p.Ala465Thr) rs112723255 0.04015
NM_007194.4(CHEK2):c.252A>G (p.Glu84=) rs1805129 0.04009
NM_000043.6(FAS):c.46G>A (p.Ala16Thr) rs3218619 0.03995
NM_003227.4(TFR2):c.714C>G (p.Ile238Met) rs34242818 0.03989
NM_006757.4(TNNT3):c.636T>C (p.Ile212=) rs16927166 0.03978
NM_005327.4(HADH):c.*818A>G rs17511319 0.03973
NM_002474.3(MYH11):c.3866T>C (p.Val1289Ala) rs16967510 0.03954
NM_198506.5(LRIT3):c.168C>T (p.Pro56=) rs17040904 0.03935
NM_001379610.1(SPINK1):c.-41G>A rs79438751 0.03918
NM_002230.4(JUP):c.425G>A (p.Arg142His) rs41283425 0.03910
NM_052813.5(CARD9):c.693G>A (p.Thr231=) rs59902911 0.03899
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03880
NM_000153.4(GALC):c.550C>T (p.Arg184Cys) rs1805078 0.03877
NM_002185.5(IL7R):c.561G>A (p.Lys187=) rs11567764 0.03877
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426 0.03864
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val) rs1800467 0.03859
NM_000037.4(ANK1):c.1320G>A (p.Pro440=) rs28533718 0.03824
NM_020975.6(RET):c.2508C>T (p.Ser836=) rs1800862 0.03791
NM_000552.5(VWF):c.3795G>A (p.Pro1265=) rs2228319 0.03767
NM_022437.3(ABCG8):c.-15A>C rs72647315 0.03755
NM_020975.6(RET):c.*1591G>A rs76759170 0.03751
NM_003722.5(TP63):c.*2636del rs5855278 0.03709
NM_022124.6(CDH23):c.4310G>A (p.Arg1437Gln) rs56181447 0.03706
NM_020376.4(PNPLA2):c.187+15G>A rs371958663 0.03705
NM_000295.5(SERPINA1):c.840T>C (p.Asp280=) rs1049800 0.03703
NM_002529.4(NTRK1):c.1838G>T (p.Gly613Val) rs6339 0.03698
NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr) rs6336 0.03696
NM_001199397.3(NEK1):c.1388C>T (p.Ala463Val) rs34540355 0.03694
NM_006493.4(CLN5):c.173+8C>T rs9565308 0.03653
NM_152419.3(HGSNAT):c.1567A>C (p.Lys523Gln) rs73569592 0.03631
NM_001114753.3(ENG):c.1060C>T (p.Leu354=) rs36092484 0.03618
NM_017668.3(NDE1):c.948-5739G>A rs34839877 0.03595
NM_000552.5(VWF):c.2451T>A (p.His817Gln) rs57950734 0.03591
NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) rs72546667 0.03558
NM_000218.3(KCNQ1):c.*411C>T rs45460605 0.03555
NM_001035.3(RYR2):c.*647C>T rs16835894 0.03547
NM_001277115.2(DNAH11):c.7756T>C (p.Tyr2586His) rs2003417 0.03504
NM_007262.5(PARK7):c.234C>T (p.Gly78=) rs11548937 0.03501
NM_001159287.1(TPI1):c.66G>A (p.Pro22=) rs1800201 0.03488
NM_001953.5(TYMP):c.831G>A (p.Leu277=) rs8141558 0.03453
NM_000352.6(ABCC8):c.-49G>C rs77498130 0.03452
NM_001355436.2(SPTB):c.4121A>G (p.His1374Arg) rs10132778 0.03447
NM_012452.3(TNFRSF13B):c.291T>G (p.Pro97=) rs35062843 0.03423
NM_031885.5(BBS2):c.1659+3A>G rs6499838 0.03415
NM_001360016.2(G6PD):c.1116G>A (p.Gln372=) rs2230036 0.03373
NM_000363.5(TNNI3):c.198G>A (p.Glu66=) rs3729710 0.03372
NM_000520.6(HEXA):c.1195A>G (p.Asn399Asp) rs1800430 0.03370
NM_001079802.2(FKTN):c.373G>A (p.Gly125Ser) rs34006675 0.03359
NM_001256317.3(TMPRSS3):c.268G>A (p.Ala90Thr) rs45598239 0.03352
NM_000400.4(ERCC2):c.718+6G>T rs3916812 0.03337
NM_000447.3(PSEN2):c.903G>T (p.Thr301=) rs6426553 0.03334
NM_001288705.3(CSF1R):c.294C>T (p.His98=) rs17652007 0.03331
NM_002739.5(PRKCG):c.285C>T (p.Asp95=) rs17854523 0.03329
NM_012179.4(FBXO7):c.540A>G (p.Pro180=) rs41311141 0.03327
NM_000257.4(MYH7):c.1605A>G (p.Glu535=) rs2069543 0.03319
NM_001256545.2(MEGF10):c.3162G>A (p.Pro1054=) rs17164938 0.03315
NM_001710.6(CFB):c.26T>A (p.Leu9His) rs4151667 0.03314
NM_014363.6(SACS):c.909A>G (p.Ala303=) rs41315020 0.03313
NM_000155.4(GALT):c.945T>C (p.His315=) rs61735982 0.03311
NM_018006.5(TRMU):c.1192C>T (p.Arg398Cys) rs34152016 0.03308
NM_000063.6(C2):c.954G>C (p.Glu318Asp) rs9332739 0.03307
NM_000070.3(CAPN3):c.1029+3A>G rs28364442 0.03285
NM_001166114.2(PNPLA6):c.2547G>A (p.Ser849=) rs522776 0.03285
NM_015627.3(LDLRAP1):c.712C>T (p.Arg238Trp) rs41291058 0.03285
NM_001130987.2(DYSF):c.1914C>T (p.Tyr638=) rs35721373 0.03282
NM_000017.4(ACADS):c.511C>T (p.Arg171Trp) rs1800556 0.03280
NM_004629.2(FANCG):c.1133C>T (p.Ser378Leu) rs4986939 0.03269
NM_000540.3(RYR1):c.12094+11A>G rs73933018 0.03267
NM_001130987.2(DYSF):c.666T>C (p.Pro222=) rs35392229 0.03244
NM_206937.2(LIG4):c.-7C>T rs4987182 0.03244
NM_033100.4(CDHR1):c.2434C>T (p.Pro812Ser) rs45584033 0.03229
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys) rs35520756 0.03206
NM_000350.3(ABCA4):c.5843C>T (p.Pro1948Leu) rs56142141 0.03191
NM_022367.4(SEMA4A):c.2138G>A (p.Arg713Gln) rs41265017 0.03176
NM_001277115.2(DNAH11):c.12508-12T>C rs72658822 0.03145
NM_001379610.1(SPINK1):c.36G>C (p.Leu12Phe) rs35877720 0.03139
NM_001377.3(DYNC2H1):c.2454G>A (p.Glu818=) rs77738279 0.03138
NM_002474.3(MYH11):c.5370C>T (p.Leu1790=) rs35295469 0.03116
NM_000540.3(RYR1):c.2871-5C>T rs45585535 0.03110
NM_198578.4(LRRK2):c.4624C>T (p.Pro1542Ser) rs33958906 0.03091
NM_015346.4(ZFYVE26):c.7232G>A (p.Arg2411His) rs34373049 0.03090
NM_139343.3(BIN1):c.1595C>T (p.Thr532Met) rs112318500 0.03069
NM_053025.4(MYLK):c.4620-12G>A rs41301337 0.03066
NM_001277115.2(DNAH11):c.12288G>A (p.Arg4096=) rs72658820 0.03062
NM_006493.4(CLN5):c.1041T>C (p.Pro347=) rs36038805 0.03060
NM_003721.4(RFXANK):c.712+4A>G rs73922830 0.03058
NM_000096.4(CP):c.2991T>C (p.His997=) rs34394958 0.03057
NM_004183.4(BEST1):c.*133T>C rs1801621 0.03051
NM_000520.6(HEXA):c.9C>T (p.Ser3=) rs1800428 0.03048
NM_025000.4(DCAF17):c.555T>A (p.His185Gln) rs3731984 0.03047
NM_000540.3(RYR1):c.7260C>T (p.His2420=) rs12973632 0.03031
NM_001130987.2(DYSF):c.1577-1635C>G rs76402294 0.03029
NM_014625.4(NPHS2):c.873+7A>G rs115778946 0.03013
NM_002474.3(MYH11):c.792T>C (p.Tyr264=) rs34341838 0.03006
NM_002693.3(POLG):c.2958C>T (p.Tyr986=) rs2307431 0.02985
NM_001040108.2(MLH3):c.2159A>G (p.Tyr720Cys) rs28756988 0.02978
NM_000051.4(ATM):c.3403-15T>A rs79701258 0.02975
NM_000540.3(RYR1):c.4107C>T (p.Pro1369=) rs11882640 0.02972
NM_130849.4(SLC39A4):c.850G>A (p.Glu284Lys) rs7823979 0.02971
NM_018006.5(TRMU):c.10T>G (p.Leu4Val) rs114302881 0.02970
NM_004629.2(FANCG):c.890C>T (p.Thr297Ile) rs2237857 0.02968
NM_001130987.2(DYSF):c.*199T>G rs13429381 0.02954
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581 0.02951
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580 0.02950
NM_080680.3(COL11A2):c.-200G>A rs144092339 0.02950
NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp) rs2066844 0.02936
NM_013339.4(ALG6):c.391T>C (p.Tyr131His) rs35383149 0.02935
NM_017668.3(NDE1):c.947+7126G>C rs1875184 0.02929
NM_001101426.4(CRPPA):c.726A>G (p.Gln242=) rs61746966 0.02927
NM_001018115.3(FANCD2):c.1367T>G (p.Leu456Arg) rs35782247 0.02918
NM_001367624.2(ZNF469):c.8212G>A (p.Ala2738Thr) rs3812955 0.02902
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg) rs61750126 0.02895
NM_006005.3(WFS1):c.1805C>T (p.Ala602Val) rs2230720 0.02889
NM_000081.4(LYST):c.7137A>C (p.Leu2379=) rs61738992 0.02884
NM_001927.4(DES):c.669T>C (p.Ile223=) rs75882680 0.02876
NM_000277.3(PAH):c.707-7A>T rs62508624 0.02868
NM_000531.6(OTC):c.809A>G (p.Gln270Arg) rs1800328 0.02868
NM_014363.6(SACS):c.1839G>A (p.Gln613=) rs35840595 0.02863
NM_198525.3(KIF7):c.2043T>A (p.Val681=) rs72750755 0.02861
NM_182894.3(VSX2):c.831G>A (p.Leu277=) rs62006815 0.02860
NM_201525.4(ADGRG1):c.1460T>C (p.Met487Thr) rs17379472 0.02860
NM_012213.3(MLYCD):c.850A>G (p.Thr284Ala) rs62640903 0.02854
NM_001114134.2(EPB42):c.10+19C>T rs77809780 0.02853
NM_003331.5(TYK2):c.3310C>G (p.Pro1104Ala) rs34536443 0.02850
NM_014000.3(VCL):c.945C>A (p.Gly315=) rs61731180 0.02850
NM_000295.5(SERPINA1):c.-10T>C rs11558258 0.02837
NM_001277115.2(DNAH11):c.13547C>T (p.Ala4516Val) rs72658840 0.02832
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg) rs7334118 0.02828
NM_006208.3(ENPP1):c.2320C>T (p.Arg774Cys) rs28933977 0.02826
NM_002234.4(KCNA5):c.381C>T (p.Ser127=) rs45504599 0.02823
NM_001377.3(DYNC2H1):c.9353+7G>A rs78309870 0.02821
NM_002633.3(PGM1):c.1280+7C>T rs72922610 0.02818
NM_000067.3(CA2):c.754A>G (p.Asn252Asp) rs2228063 0.02817
NM_000426.4(LAMA2):c.6167C>A (p.Thr2056Lys) rs73775407 0.02812
NM_033100.4(CDHR1):c.728C>T (p.Ala243Val) rs7086200 0.02804
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln) rs61747728 0.02796
NM_033100.4(CDHR1):c.486G>C (p.Arg162Ser) rs74145715 0.02792
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val) rs35947132 0.02791
NM_020451.3(SELENON):c.981C>T (p.Arg327=) rs147587542 0.02788
NM_130849.4(SLC39A4):c.251C>T (p.Pro84Leu) rs117535951 0.02765
NM_013296.5(GPSM2):c.828A>G (p.Lys276=) rs338489 0.02763
NM_012144.4(DNAI1):c.1460T>G (p.Val487Gly) rs11999454 0.02757
NM_000138.5(FBN1):c.6855T>C (p.Asp2285=) rs363836 0.02755
NM_020975.6(RET):c.1264-5C>T rs9282835 0.02749
NM_000514.4(GDNF):c.429G>A (p.Arg143=) rs36010631 0.02743
NM_015272.5(RPGRIP1L):c.2231G>A (p.Arg744Gln) rs2302677 0.02738
NM_000391.4(TPP1):c.381-10dup rs146315473 0.02726
NM_001385875.1(ZFYVE27):c.572G>T (p.Gly191Val) rs35077384 0.02717
NM_138413.4(HOGA1):c.396G>A (p.Ala132=) rs41290456 0.02716
NM_178452.6(DNAAF1):c.1303G>A (p.Asp435Asn) rs149158199 0.02715
NM_005138.3(SCO2):c.327C>T (p.His109=) rs75485962 0.02713
NM_001368894.2(PAX6):c.-129+9G>A rs56139994 0.02711
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) rs2307441 0.02704
NM_002294.3(LAMP2):c.927C>T (p.Ser309=) rs73219144 0.02702
NM_001927.4(DES):c.408C>T (p.Leu136=) rs111828114 0.02697
NM_000379.4(XDH):c.837C>T (p.Val279=) rs4407290 0.02692
NM_018122.5(DARS2):c.663+8T>C rs73037062 0.02691
NM_000215.4(JAK3):c.394C>A (p.Pro132Thr) rs3212723 0.02676
NM_001001548.3(CD36):c.975T>G (p.Tyr325Ter) rs3211938 0.02669
NM_003240.5(LEFTY2):c.857C>T (p.Pro286Leu) rs2295418 0.02669
NM_014049.5(ACAD9):c.976G>A (p.Ala326Thr) rs115532916 0.02662
NM_213599.3(ANO5):c.2521-13A>G rs76850415 0.02660
NM_001252024.2(TRPM1):c.234T>C (p.Tyr78=) rs74010762 0.02659
NM_001142800.2(EYS):c.5977A>G (p.Thr1993Ala) rs115066356 0.02657
NM_020366.4(RPGRIP1):c.3341A>G (p.Asp1114Gly) rs17103671 0.02649
NM_032387.5(WNK4):c.1477-13A>G rs61754357 0.02638
NM_005199.5(CHRNG):c.445G>A (p.Ala149Thr) rs2289080 0.02629
NM_017636.4(TRPM4):c.2934T>C (p.Ile978=) rs35516880 0.02629
NM_002633.3(PGM1):c.399T>C (p.Ile133=) rs1126727 0.02624
NM_000360.4(TH):c.1401C>T (p.Asp467=) rs3842724 0.02616
NM_001083116.3(PRF1):c.11G>A (p.Arg4His) rs35418374 0.02616
NM_000618.5(IGF1):c.*263T>A rs70961704 0.02615
NM_001130987.2(DYSF):c.3119G>A (p.Arg1040Gln) rs34211915 0.02614
NM_001256545.2(MEGF10):c.2199C>T (p.Cys733=) rs35591368 0.02614
NM_000122.1(ERCC3):c.-69C>T rs9282675 0.02606
NM_133642.5(LARGE1):c.1548C>T (p.Tyr516=) rs34292743 0.02604
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=) rs1801248 0.02598
NM_015346.4(ZFYVE26):c.2332+7del rs145183291 0.02598
NM_007254.4(PNKP):c.1189-10del rs3739205 0.02593
NM_020297.4(ABCC9):c.2424+9T>C rs11835804 0.02576
NM_014244.5(ADAMTS2):c.2480G>A (p.Arg827Gln) rs35445112 0.02575
NM_000350.3(ABCA4):c.6732G>A (p.Val2244=) rs77293072 0.02574
NM_001142800.2(EYS):c.2157C>T (p.Cys719=) rs9453148 0.02573
NM_000230.3(LEP):c.280G>A (p.Val94Met) rs17151919 0.02565
NM_001848.3(COL6A1):c.1273-8C>T rs7280215 0.02565
NM_003465.3(CHIT1):c.1060G>A (p.Gly354Arg) rs9943208 0.02564
NM_198506.5(LRIT3):c.505C>A (p.Pro169Thr) rs61745483 0.02563
NM_018249.6(CDK5RAP2):c.5418C>T (p.Pro1806=) rs3739822 0.02551
NM_001035.3(RYR2):c.8437-7dup rs148246251 0.02544
NM_000051.4(ATM):c.1254A>G (p.Gln418=) rs4987943 0.02542
NM_000466.3(PEX1):c.3439-14_3439-13del rs150005994 0.02536
NM_001367624.2(ZNF469):c.4434C>T (p.Ser1478=) rs74032865 0.02534
NM_000123.4(ERCC5):c.767A>G (p.Gln256Arg) rs4150313 0.02531
NM_024675.4(PALB2):c.3300T>G (p.Thr1100=) rs45516100 0.02529
NM_000135.4(FANCA):c.3859G>A (p.Val1287Ile) rs17227354 0.02526
NM_152618.3(BBS12):c.1381A>C (p.Asn461His) rs10027479 0.02523
NM_001232.4(CASQ2):c.731A>G (p.His244Arg) rs28730716 0.02511
NM_001844.4(COL2A1):c.-187G>A rs41317877 0.02510
NM_006790.3(MYOT):c.149A>G (p.Gln50Arg) rs34717730 0.02506
NM_001692.4(ATP6V1B1):c.481G>A (p.Glu161Lys) rs114234874 0.02502
NM_003748.4(ALDH4A1):c.47C>T (p.Pro16Leu) rs146450609 0.02500
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met) rs74902811 0.02492
NM_000214.3(JAG1):c.270G>T (p.Gly90=) rs114048678 0.02490
NM_000051.4(ATM):c.8786+8A>C rs4986839 0.02488
NM_001130987.2(DYSF):c.2856G>A (p.Pro952=) rs34836829 0.02488
NM_006493.4(CLN5):c.87C>G (p.Ala29=) rs138037471 0.02484
NM_014249.4(NR2E3):c.488T>C (p.Met163Thr) rs1805021 0.02481
NM_001101426.4(CRPPA):c.407C>T (p.Ala136Val) rs61734789 0.02478
NM_213599.3(ANO5):c.*554C>T rs117180492 0.02476
NM_000030.3(AGXT):c.883G>A (p.Ala295Thr) rs13408961 0.02475
NM_001143992.2(WRAP53):c.31C>T (p.Pro11Ser) rs17880282 0.02475
NM_000030.3(AGXT):c.65A>G (p.Asn22Ser) rs34885252 0.02454
NM_001134363.3(RBM20):c.517C>A (p.Pro173Thr) rs7908490 0.02441
NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met) rs45500692 0.02436
NM_012472.6(DNAAF11):c.283C>T (p.Leu95=) rs74599901 0.02427
NM_001134363.3(RBM20):c.1801-11G>C rs12572941 0.02426
NM_000138.5(FBN1):c.6888G>A (p.Gln2296=) rs363830 0.02418
NM_014363.6(SACS):c.11032C>G (p.Pro3678Ala) rs17078601 0.02418
NM_001080413.3(NOBOX):c.349C>T (p.Arg117Trp) rs7800847 0.02403
NM_000151.4(G6PC1):c.432G>A (p.Pro144=) rs161628 0.02402
NM_000218.3(KCNQ1):c.*482G>A rs45510192 0.02395
NM_001134363.3(RBM20):c.695G>A (p.Gly232Asp) rs61735268 0.02395
NM_000540.3(RYR1):c.1577-6C>G rs61586345 0.02394
NM_018368.3(LMBRD1):c.-250G>C rs112053239 0.02394
NM_006949.4(STXBP2):c.*12G>A rs28464386 0.02393
NM_003923.3(FOXH1):c.373A>T (p.Thr125Ser) rs112028242 0.02391
NM_014249.4(NR2E3):c.419A>G (p.Glu140Gly) rs1805020 0.02391
NM_000218.3(KCNQ1):c.*742G>A rs114844136 0.02390
NM_148919.4(PSMB8):c.22G>A (p.Gly8Arg) rs114772012 0.02384
NM_004132.5(HABP2):c.1601G>A (p.Gly534Glu) rs7080536 0.02383
NM_001384474.1(LOXHD1):c.2T>A (p.Met1Lys) rs36024592 0.02382
NM_000055.4(BCHE):c.849G>C (p.Glu283Asp) rs16849700 0.02374
NM_000130.5(F5):c.3438C>G (p.His1146Gln) rs6005 0.02373
NM_001113378.2(FANCI):c.3816+15A>T rs28493988 0.02368
NM_000214.3(JAG1):c.924C>T (p.Asn308=) rs45575136 0.02367
NM_001267550.2(TTN):c.65147C>T (p.Ser21716Leu) rs13021201 0.02363
NM_000037.4(ANK1):c.1782C>A (p.Ser594=) rs61753679 0.02349
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr) rs2020873 0.02345
NM_003060.4(SLC22A5):c.1645C>T (p.Pro549Ser) rs11568525 0.02345
NM_003060.4(SLC22A5):c.430C>T (p.Leu144Phe) rs10040427 0.02340
NM_001378964.1(CDON):c.1851+14G>A rs113328989 0.02329
NM_000379.4(XDH):c.514G>A (p.Gly172Arg) rs45523133 0.02328
NM_001122659.3(EDNRB):c.*1767C>T rs3027092 0.02325
NM_001367624.2(ZNF469):c.11409G>C (p.Gly3803=) rs150233193 0.02319
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser) rs17217772 0.02317
NM_000535.7(PMS2):c.1488C>T (p.His496=) rs1805320 0.02307
NM_145861.4(EDARADD):c.60G>A (p.Glu20=) rs60808129 0.02304
NM_213599.3(ANO5):c.*279G>A rs72982058 0.02298
NM_015346.4(ZFYVE26):c.2852C>T (p.Thr951Met) rs35471427 0.02295
NM_000426.4(LAMA2):c.8028T>C (p.Asn2676=) rs35313209 0.02285
NM_006610.4(MASP2):c.359A>G (p.Asp120Gly) rs72550870 0.02284
NM_015192.4(PLCB1):c.1581+15C>T rs79284104 0.02283
NM_213653.4(HJV):c.929C>G (p.Ala310Gly) rs7540883 0.02277
NM_005216.5(DDOST):c.831C>T (p.Ala277=) rs6692016 0.02273
NM_001379500.1(COL18A1):c.2781C>T (p.Pro927=) rs11544970 0.02268
NM_032409.3(PINK1):c.*490A>C rs16824318 0.02268
NM_001012750.3(ABI1):c.*1940A>C rs1046187 0.02265
NM_001367624.2(ZNF469):c.10975G>A (p.Gly3659Arg) rs3812951 0.02265
NM_024312.5(GNPTAB):c.1931C>T (p.Thr644Ile) rs76889468 0.02262
NM_000969.5(RPL5):c.165G>A (p.Val55=) rs58263806 0.02253
NM_000540.3(RYR1):c.5622A>G (p.Glu1874=) rs35021937 0.02251
NM_000414.4(HSD17B4):c.875C>G (p.Thr292Ser) rs1143650 0.02248
NM_000337.6(SGCD):c.*7596A>G rs80115276 0.02244
NM_001377.3(DYNC2H1):c.1367G>A (p.Arg456Gln) rs17099969 0.02244
NM_000379.4(XDH):c.1936A>G (p.Ile646Val) rs17323225 0.02243
NM_001025389.2(AMPD3):c.1363T>C (p.Tyr455His) rs36003153 0.02243
NM_004519.4(KCNQ3):c.1241A>G (p.Glu414Gly) rs2303995 0.02242
NM_025136.4(OPA3):c.-38A>G rs45527139 0.02241
NM_014874.4(MFN2):c.159C>T (p.Ser53=) rs61733200 0.02240
NM_001384732.1(CPLANE1):c.3743G>A (p.Gly1248Asp) rs72736758 0.02238
NM_000135.4(FANCA):c.2151G>T (p.Met717Ile) rs1131660 0.02234
NM_001130987.2(DYSF):c.661C>G (p.Leu221Val) rs13407355 0.02232
NM_014625.4(NPHS2):c.725C>T (p.Ala242Val) rs61747727 0.02224
NM_007374.3(SIX6):c.21G>A (p.Leu7=) rs61746410 0.02217
NM_000152.5(GAA):c.271G>A (p.Asp91Asn) rs1800299 0.02215
NM_000170.3(GLDC):c.671G>A (p.Arg224His) rs28617412 0.02214
NM_001365536.1(SCN9A):c.3362G>A (p.Arg1121Gln) rs74401238 0.02210
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962 0.02208
NM_003227.4(TFR2):c.2255G>A (p.Arg752His) rs41295942 0.02204
NM_003640.5(ELP1):c.934G>A (p.Glu312Lys) rs1140064 0.02197
NM_000426.4(LAMA2):c.8528A>G (p.Asn2843Ser) rs73599293 0.02196
NM_000182.5(HADHA):c.1072C>A (p.Gln358Lys) rs2229420 0.02193
NM_001277115.2(DNAH11):c.421G>T (p.Asp141Tyr) rs72655969 0.02191
NM_005373.3(MPL):c.340G>A (p.Val114Met) rs12731981 0.02191
NM_000515.5(GH1):c.-38A>C rs6172 0.02189
NM_015272.5(RPGRIP1L):c.1341G>A (p.Leu447=) rs61743997 0.02188
NM_000051.4(ATM):c.5497-8T>C rs3092829 0.02183
NM_025077.4(TOE1):c.52+77G>A rs3219466 0.02177
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala) rs2228007 0.02174
NM_000256.3(MYBPC3):c.492C>T (p.Gly164=) rs3218719 0.02170
NM_001040436.3(YARS2):c.1026G>A (p.Arg342=) rs35339227 0.02168
NM_001367624.2(ZNF469):c.4406A>G (p.Tyr1469Cys) rs116072997 0.02164
NM_001256317.3(TMPRSS3):c.432A>G (p.Gln144=) rs61731564 0.02161
NM_000379.4(XDH):c.1184A>T (p.Lys395Met) rs34929837 0.02155
NM_000096.4(CP):c.1652C>T (p.Thr551Ile) rs61733458 0.02154
NM_000540.3(RYR1):c.11754T>A (p.Thr3918=) rs45613041 0.02154
NM_001367624.2(ZNF469):c.2913C>A (p.Gly971=) rs60462217 0.02154
NM_000540.3(RYR1):c.11908-14A>G rs2292799 0.02149
NM_000540.3(RYR1):c.11266C>G (p.Gln3756Glu) rs4802584 0.02143
NM_001267550.2(TTN):c.93387C>T (p.Ser31129=) rs35445420 0.02143
NM_001367624.2(ZNF469):c.3650C>T (p.Pro1217Leu) rs115183769 0.02140
NM_018249.6(CDK5RAP2):c.1093-14G>A rs75029577 0.02140
NM_000465.4(BARD1):c.1933T>C (p.Cys645Arg) rs2228456 0.02135
NM_000137.4(FAH):c.1021C>T (p.Arg341Trp) rs11555096 0.02131
NM_000260.4(MYO7A):c.4023C>T (p.Pro1341=) rs73495790 0.02130
NM_001430.5(EPAS1):c.1035-15T>C rs116510029 0.02125
NM_001927.4(DES):c.1026C>T (p.Asn342=) rs61731508 0.02125
NM_001232.4(CASQ2):c.1014+9C>T rs77775029 0.02121
NM_001142800.2(EYS):c.2739G>A (p.Arg913=) rs77020971 0.02117
NM_001232.4(CASQ2):c.1005T>C (p.Asn335=) rs28730712 0.02116
NM_001267550.2(TTN):c.43488G>A (p.Arg14496=) rs56034831 0.02114
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_000426.4(LAMA2):c.1533T>C (p.Asn511=) rs9492266 0.02106
NM_000037.4(ANK1):c.4385C>T (p.Ala1462Val) rs34664882 0.02105
NM_000037.4(ANK1):c.4506C>T (p.Arg1502=) rs34265667 0.02104
NM_133433.4(NIPBL):c.4561-9T>A rs79924167 0.02103
NM_003289.4(TPM2):c.773-4_773-3insA rs1554658501 0.02101
NM_024675.4(PALB2):c.629C>T (p.Pro210Leu) rs57605939 0.02101
NM_000515.5(GH1):c.447G>A (p.Thr149=) rs41295043 0.02097
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala) rs34258285 0.02088
NM_001005498.4(RHBDF2):c.1684A>G (p.Met562Val) rs73998915 0.02086
NM_016239.4(MYO15A):c.2462A>C (p.Gln821Pro) rs372125621 0.02081
NM_133259.4(LRPPRC):c.1888C>T (p.Leu630=) rs35881858 0.02080
NM_000441.2(SLC26A4):c.2130C>T (p.Asp710=) rs17154347 0.02079
NM_001130987.2(DYSF):c.4122C>T (p.Ser1374=) rs2303607 0.02075
NM_000350.3(ABCA4):c.3899G>A (p.Arg1300Gln) rs61750129 0.02065
NM_024306.5(FA2H):c.289C>G (p.Pro97Ala) rs35874850 0.02064
NM_012144.4(DNAI1):c.378A>G (p.Glu126=) rs3818577 0.02063
NM_016938.5(EFEMP2):c.-113C>T rs188624478 0.02060
NM_000379.4(XDH):c.1134C>T (p.Gly378=) rs45612738 0.02057
NM_001384474.1(LOXHD1):c.966G>C (p.Gly322=) rs114082868 0.02057
NM_001267550.2(TTN):c.24880A>G (p.Arg8294Gly) rs72648982 0.02056
NM_025137.4(SPG11):c.7023C>T (p.Tyr2341=) rs80338869 0.02054
NM_002890.3(RASA1):c.296C>T (p.Ala99Val) rs111840875 0.02050
NM_001040108.2(MLH3):c.2221G>T (p.Val741Phe) rs28756990 0.02049
NM_022124.6(CDH23):c.3664G>A (p.Ala1222Thr) rs41281316 0.02047
NM_018136.5(ASPM):c.*60C>T rs1537318 0.02044
NM_018136.5(ASPM):c.-110C>T rs74981632 0.02032
NM_006996.3(SLC19A2):c.1215G>A (p.Thr405=) rs61049753 0.02028
NM_001242957.3(MAK):c.1558C>T (p.Pro520Ser) rs567083 0.02022
NM_001367624.2(ZNF469):c.6777G>A (p.Glu2259=) rs76442115 0.02017
NM_001367624.2(ZNF469):c.6779A>G (p.Lys2260Arg) rs75136873 0.02017
NM_017636.4(TRPM4):c.449-10G>A rs78444754 0.02013
NM_001267550.2(TTN):c.86811A>G (p.Val28937=) rs55972010 0.02012
NM_016247.4(IMPG2):c.3439C>T (p.Pro1147Ser) rs111784356 0.02010
NM_014336.5(AIPL1):c.111C>T (p.Phe37=) rs11650007 0.02008
NM_001166114.2(PNPLA6):c.183G>A (p.Val61=) rs35732838 0.01999
NM_001267550.2(TTN):c.92901C>T (p.Ser30967=) rs11694623 0.01999
NM_000091.5(COL4A3):c.2715C>T (p.Pro905=) rs75519005 0.01995
NM_017755.6(NSUN2):c.1602-17_1602-15del rs139131959 0.01987
NM_053013.3(ENO3):c.-88G>A rs73343373 0.01987
NM_001148.6(ANK2):c.9900C>A (p.Ser3300Arg) rs34270799 0.01986
NM_012064.4(MIP):c.319G>A (p.Val107Ile) rs74641138 0.01986
NM_000186.4(CFH):c.3148A>T (p.Asn1050Tyr) rs35274867 0.01982
NM_012434.5(SLC17A5):c.1111+7G>A rs146729568 0.01982
NM_001040108.2(MLH3):c.666G>A (p.Lys222=) rs28756980 0.01977
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) rs11934801 0.01974
NM_001394090.1(CFAP92):c.3281-2342G>A rs116106966 0.01973
NM_000251.3(MSH2):c.573C>T (p.Leu191=) rs1800151 0.01972
NM_000540.3(RYR1):c.13503G>A (p.Pro4501=) rs2960319 0.01964
NM_001710.6(CFB):c.1365C>T (p.Val455=) rs2072634 0.01961
NM_001257180.2(SLC20A2):c.1011C>A (p.Thr337=) rs116359869 0.01957
NM_001927.4(DES):c.372G>A (p.Glu124=) rs34365369 0.01950
NM_000426.4(LAMA2):c.4750G>A (p.Gly1584Ser) rs117781224 0.01941
NM_001257180.2(SLC20A2):c.1254C>T (p.Gly418=) rs115234947 0.01931
NM_133642.5(LARGE1):c.309C>T (p.Ser103=) rs59349720 0.01920
NM_001142800.2(EYS):c.2733T>C (p.Asn911=) rs75634595 0.01917
NM_001267550.2(TTN):c.29812A>T (p.Thr9938Ser) rs72650006 0.01917
NM_001844.5(COL2A1):c.610-7G>A rs7967258 0.01915
NM_003640.5(ELP1):c.959-15C>T rs112114410 0.01906
NM_016239.4(MYO15A):c.4533C>T (p.Ala1511=) rs114328138 0.01906
NM_002617.4(PEX10):c.820A>G (p.Thr274Ala) rs34154371 0.01899
NM_014141.6(CNTNAP2):c.3797-6C>T rs79777576 0.01899
NM_001355436.2(SPTB):c.666T>C (p.Phe222=) rs17102119 0.01896
NM_019892.6(INPP5E):c.603C>G (p.Ile201Met) rs36064831 0.01896
NM_006790.3(MYOT):c.-251A>G rs6863775 0.01894
NM_001040108.2(MLH3):c.4242+13C>G rs77157930 0.01890
NM_000051.4(ATM):c.1541G>A (p.Gly514Asp) rs2235000 0.01889
NM_003119.4(SPG7):c.1664-15C>A rs80292600 0.01888
NM_000302.4(PLOD1):c.540G>A (p.Gln180=) rs35958757 0.01887
NM_002386.4(MC1R):c.900C>T (p.Phe300=) rs3212367 0.01887
NM_001276345.2(TNNT2):c.*66G>A rs3729998 0.01883
NM_080680.3(COL11A2):c.5165C>T (p.Pro1722Leu) rs2229792 0.01881
NM_000260.4(MYO7A):c.2035G>A (p.Val679Ile) rs35641839 0.01879
NM_001122659.3(EDNRB):c.*1546A>G rs3027094 0.01879
NM_022725.4(FANCF):c.825G>A (p.Leu275=) rs36045913 0.01879
NM_153766.3(KCNJ1):c.45G>A (p.Gly15=) rs75088315 0.01875
NM_003640.5(ELP1):c.189C>T (p.Leu63=) rs2230786 0.01873
NM_001267550.2(TTN):c.24909G>A (p.Lys8303=) rs72648983 0.01872
NM_000156.6(GAMT):c.*11C>T rs149268921 0.01866
NM_000257.4(MYH7):c.975C>T (p.Asp325=) rs2231124 0.01865
NM_000379.4(XDH):c.3084C>T (p.Gly1028=) rs45604135 0.01858
NM_006790.3(MYOT):c.*190C>G rs74711051 0.01853
NM_001166108.2(PALLD):c.3359-4G>A rs112116419 0.01852
NM_014908.4(DOLK):c.-49A>G rs116439010 0.01852
NM_000135.4(FANCA):c.755A>G (p.Asp252Gly) rs17225943 0.01851
NM_017950.4(CCDC40):c.2255T>C (p.Leu752Pro) rs117203086 0.01848
NM_001430.5(EPAS1):c.2511C>T (p.Pro837=) rs35795449 0.01843
NM_213599.3(ANO5):c.*3168C>T rs35892535 0.01843
NM_144508.5(KNL1):c.2369C>G (p.Thr790Ser) rs33931006 0.01841
NM_017636.4(TRPM4):c.783G>A (p.Lys261=) rs111930830 0.01836
NM_138694.4(PKHD1):c.9577G>A (p.Val3193Ile) rs35445653 0.01835
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117 0.01834
NM_182914.3(SYNE2):c.12122G>A (p.Arg4041His) rs17101661 0.01834
NM_000453.3(SLC5A5):c.-54C>T rs112077649 0.01822
NM_001114134.2(EPB42):c.654+7G>A rs72721553 0.01821
NM_001377.3(DYNC2H1):c.4068C>T (p.Phe1356=) rs74713170 0.01817
NM_002734.5(PRKAR1A):c.87G>A (p.Ala29=) rs3730349 0.01815
NM_003748.4(ALDH4A1):c.744C>T (p.Ile248=) rs60427141 0.01815
NM_001256545.2(MEGF10):c.2076C>T (p.Pro692=) rs115309591 0.01810
NM_018136.5(ASPM):c.2419+12G>A rs77191836 0.01806
NM_001134363.3(RBM20):c.1914G>A (p.Pro638=) rs74339620 0.01800
NM_001367624.2(ZNF469):c.6944C>G (p.Pro2315Arg) rs77490207 0.01795
NM_014855.3(AP5Z1):c.2098G>A (p.Val700Met) rs11766611 0.01795
NM_005138.2(SCO2):c.-142G>C rs145052206 0.01794
NM_001377.3(DYNC2H1):c.2818+13T>C rs150786504 0.01790
NM_019032.6(ADAMTSL4):c.3083G>A (p.Arg1028His) rs56411234 0.01782
NM_014336.5(AIPL1):c.341C>T (p.Thr114Ile) rs8069375 0.01781
NM_012144.4(DNAI1):c.297A>G (p.Gln99=) rs77344166 0.01778
NM_000540.3(RYR1):c.12624+14C>T rs75797287 0.01777
NM_001130987.2(DYSF):c.*53G>A rs114777968 0.01775
NM_000070.3(CAPN3):c.78G>A (p.Pro26=) rs62642519 0.01774
NM_001367624.2(ZNF469):c.5697C>T (p.Ser1899=) rs111986360 0.01774
NM_213599.3(ANO5):c.2259A>G (p.Ser753=) rs61746201 0.01772
NM_013247.5(HTRA2):c.480C>G (p.Ala160=) rs2231248 0.01771
NM_006502.3(POLH):c.1783A>G (p.Met595Val) rs9333555 0.01768
NM_000642.3(AGL):c.1155G>T (p.Lys385Asn) rs28730701 0.01764
NM_003748.4(ALDH4A1):c.1583C>A (p.Thr528Asn) rs61757683 0.01760
NM_018368.4(LMBRD1):c.980+11T>C rs114726590 0.01756
NM_018719.5(CDCA7L):c.*1052G>A rs72658841 0.01754
NM_022098.4(XPNPEP3):c.111A>G (p.Pro37=) rs1894658 0.01750
NM_000260.4(MYO7A):c.5619G>A (p.Arg1873=) rs45450893 0.01749
NM_001130987.2(DYSF):c.1465G>A (p.Glu489Lys) rs61740288 0.01748
NM_030787.4(CFHR5):c.1067G>A (p.Arg356His) rs35662416 0.01746
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser) rs146934311 0.01744
NM_001277115.2(DNAH11):c.9098T>C (p.Ile3033Thr) rs28751578 0.01743
NM_003748.4(ALDH4A1):c.603+14G>A rs79637190 0.01743
NM_000426.4(LAMA2):c.1491T>C (p.Cys497=) rs2306220 0.01733
NM_002863.5(PYGL):c.2534A>G (p.Asn845Ser) rs78558135 0.01732
NM_000426.4(LAMA2):c.8124T>A (p.Gly2708=) rs34997144 0.01727
NM_022124.6(CDH23):c.7467C>T (p.Arg2489=) rs111033289 0.01726
NM_000512.5(GALNS):c.240G>A (p.Ser80=) rs11865929 0.01724
NM_000251.3(MSH2):c.965G>A (p.Gly322Asp) rs4987188 0.01714
NM_013247.5(HTRA2):c.421G>T (p.Ala141Ser) rs72470544 0.01709
NM_017755.5(NSUN2):c.-193G>C rs8192123 0.01707
NM_002454.3(MTRR):c.*151A>G rs112465197 0.01706
NM_194248.3(OTOF):c.3608A>G (p.Asn1203Ser) rs61740776 0.01706
NM_017755.5(NSUN2):c.-340C>T rs147269098 0.01704
NM_198904.4(GABRG2):c.354G>A (p.Ala118=) rs61735412 0.01699
NM_000038.6(APC):c.7504G>A (p.Gly2502Ser) rs2229995 0.01693
NM_001384474.1(LOXHD1):c.2370C>T (p.Asp790=) rs34723936 0.01692
NM_001377.3(DYNC2H1):c.645A>G (p.Leu215=) rs116666272 0.01688
NM_005476.7(GNE):c.1770C>T (p.Tyr590=) rs111302956 0.01688
NM_000176.3(NR3C1):c.66G>A (p.Glu22=) rs6189 0.01685
NM_001134831.2(AHI1):c.3015A>G (p.Ser1005=) rs41287054 0.01682
NM_198578.4(LRRK2):c.6844-14_6844-13insA rs150964683 0.01681
NM_001130987.2(DYSF):c.1785G>A (p.Ala595=) rs35984374 0.01679
NM_001267550.2(TTN):c.1492G>A (p.Val498Ile) rs72647851 0.01678
NM_025137.4(SPG11):c.1108G>A (p.Glu370Lys) rs77697105 0.01678
NM_007078.3(LDB3):c.752A>G (p.Lys251Arg) rs34423165 0.01671
NM_000492.4(CFTR):c.1584G>A (p.Glu528=) rs1800095 0.01670
NM_000271.5(NPC1):c.1503C>T (p.Asp501=) rs116046557 0.01665
NM_025243.4(SLC19A3):c.42C>T (p.Tyr14=) rs34080459 0.01664
NM_001369.3(DNAH5):c.2683G>A (p.Glu895Lys) rs76229167 0.01663
NM_003124.5(SPR):c.-7C>G rs184034436 0.01663
NM_000092.5(COL4A4):c.3486A>G (p.Pro1162=) rs2229815 0.01659
NM_001267550.2(TTN):c.25936C>T (p.Arg8646Cys) rs72648987 0.01656
NM_033100.4(CDHR1):c.1515C>T (p.Gly505=) rs116594644 0.01656
NM_001038.6(SCNN1A):c.1477T>C (p.Trp493Arg) rs5742912 0.01653
NM_000334.4(SCN4A):c.*1677_*1678insAT rs397797581 0.01652
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile) rs1805324 0.01651
NM_173842.3(IL1RN):c.459C>T (p.Asp153=) rs4252023 0.01650
NM_024996.7(GFM1):c.-11C>T rs112860155 0.01649
NM_000352.6(ABCC8):c.-19A>G rs193922394 0.01648
NM_000426.4(LAMA2):c.8691A>G (p.Arg2897=) rs2228599 0.01648
NM_199242.3(UNC13D):c.1579C>T (p.Arg527Trp) rs75366116 0.01644
NM_000784.4(CYP27A1):c.888A>G (p.Gln296=) rs61733619 0.01643
NM_201253.3(CRB1):c.2128+15A>C rs75691013 0.01643
NM_000112.4(SLC26A2):c.1474C>T (p.Arg492Trp) rs78676079 0.01642
NM_001130987.2(DYSF):c.4848G>A (p.Glu1616=) rs62145939 0.01642
NM_003640.5(ELP1):c.751A>G (p.Ser251Gly) rs17853166 0.01640
NM_000187.4(HGD):c.1221G>A (p.Ala407=) rs146206905 0.01639
NM_001256545.2(MEGF10):c.984C>T (p.Asn328=) rs35550094 0.01638
NM_001206744.2(TPO):c.1587A>C (p.Leu529Phe) rs114796303 0.01634
NM_007055.4(POLR3A):c.1724A>T (p.Lys575Met) rs56214655 0.01630
NM_001256545.2(MEGF10):c.3189G>A (p.Glu1063=) rs56157640 0.01628
NM_033337.3(CAV3):c.171G>A (p.Val57=) rs61147808 0.01628
NM_033337.3(CAV3):c.*276C>T rs77367257 0.01623
NM_000092.5(COL4A4):c.2008G>A (p.Val670Ile) rs34236495 0.01622
NM_016239.4(MYO15A):c.9708G>A (p.Val3236=) rs115393178 0.01622
NM_080424.4(SP110):c.1100C>T (p.Thr367Met) rs59573011 0.01618
NM_003982.4(SLC7A7):c.272C>T (p.Ala91Val) rs11568438 0.01617
NM_006790.3(MYOT):c.780G>A (p.Ser260=) rs116773838 0.01617
NM_000546.6(TP53):c.993+12T>C rs1800899 0.01614
NM_001367624.2(ZNF469):c.3894G>C (p.Val1298=) rs115790991 0.01614
NM_003640.5(ELP1):c.2587+14C>T rs141670242 0.01614
NM_000092.5(COL4A4):c.2439A>T (p.Gly813=) rs34835657 0.01612
NM_000311.5(PRNP):c.512A>G (p.Asn171Ser) rs16990018 0.01612
NM_001267550.2(TTN):c.8467G>T (p.Val2823Phe) rs33917087 0.01611
NM_031433.4(MFRP):c.355A>G (p.Ile119Val) rs4639950 0.01611
NM_139027.6(ADAMTS13):c.1368G>T (p.Gln456His) rs36220239 0.01611
NM_000158.4(GBE1):c.1716C>T (p.Asp572=) rs2229520 0.01610
NM_213599.3(ANO5):c.*2095G>A rs142192440 0.01610
NM_015102.5(NPHP4):c.2542C>T (p.Arg848Trp) rs17472401 0.01606
NM_000782.5(CYP24A1):c.234T>G (p.Gly78=) rs61755338 0.01605
NM_053013.4(ENO3):c.993C>T (p.Ala331=) rs2230257 0.01604
NM_002454.3(MTRR):c.*49A>G rs142538539 0.01601
NM_004304.5(ALK):c.2039C>T (p.Thr680Ile) rs35228363 0.01598
NM_014585.6(SLC40A1):c.744G>T (p.Gln248His) rs11568350 0.01596
NM_000070.3(CAPN3):c.1355-6G>A rs28364485 0.01593
NM_000540.3(RYR1):c.11547G>A (p.Gln3849=) rs142518033 0.01592
NM_001010892.3(RSPH4A):c.731G>A (p.Arg244His) rs41289942 0.01592
NM_003640.5(ELP1):c.2855A>T (p.Lys952Ile) rs2230798 0.01592
NM_022356.4(P3H1):c.1284C>T (p.Ile428=) rs61746642 0.01592
NM_000243.3(MEFV):c.*133G>A rs2075849 0.01591
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser) rs11466023 0.01590
NM_004004.6(GJB2):c.-15C>T rs72561725 0.01589
NM_012452.3(TNFRSF13B):c.563A>T (p.Lys188Met) rs74811083 0.01589
NM_000186.4(CFH):c.477T>C (p.Ser159=) rs34940854 0.01586
NM_001134363.3(RBM20):c.3144C>T (p.Ser1048=) rs75858380 0.01586
NM_012452.3(TNFRSF13B):c.659T>C (p.Val220Ala) rs56063729 0.01586
NM_000540.3(RYR1):c.5360C>T (p.Pro1787Leu) rs34934920 0.01583
NM_001377.3(DYNC2H1):c.3660T>C (p.Pro1220=) rs118191062 0.01583
NM_007194.4(CHEK2):c.1542+11T>A rs17881716 0.01583
NM_000277.3(PAH):c.963C>T (p.Leu321=) rs61747292 0.01582
NM_022356.4(P3H1):c.1026C>T (p.Ala342=) rs61100157 0.01581
NM_022367.4(SEMA4A):c.2187G>A (p.Pro729=) rs41265019 0.01581
NM_000122.2(ERCC3):c.1119G>A (p.Gln373=) rs2228544 0.01580
NM_022356.4(P3H1):c.1569+3A>G rs76871760 0.01579
NM_022356.4(P3H1):c.1812C>T (p.Pro604=) rs34809608 0.01577
NM_000092.5(COL4A4):c.1323T>C (p.Pro441=) rs35830639 0.01576
NM_000070.3(CAPN3):c.479C>G (p.Ala160Gly) rs17592 0.01574
NM_000271.5(NPC1):c.1947+14G>T rs3745024 0.01574
NM_001358530.2(MOCS1):c.1715G>A (p.Arg572His) rs41273140 0.01571
NM_001377.3(DYNC2H1):c.10461A>G (p.Gln3487=) rs75143468 0.01568
NM_014384.3(ACAD8):c.512C>G (p.Ser171Cys) rs113488591 0.01568
NM_006493.4(CLN5):c.*158C>G rs111327761 0.01567
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558 0.01567
NM_006846.4(SPINK5):c.2762A>G (p.Asn921Ser) rs73271166 0.01566
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met) rs80338952 0.01562
NM_012062.5(DNM1L):c.*1415T>C rs114366772 0.01556
NM_014855.3(AP5Z1):c.333G>C (p.Gln111His) rs11549840 0.01556
NM_014855.3(AP5Z1):c.1197G>A (p.Glu399=) rs117666541 0.01551
NM_018249.6(CDK5RAP2):c.4821G>C (p.Arg1607Ser) rs16909747 0.01549
NM_025099.6(CTC1):c.3153G>C (p.Arg1051=) rs3027242 0.01548
NM_000218.3(KCNQ1):c.1455C>T (p.Phe485=) rs17215465 0.01545
NM_000350.3(ABCA4):c.*134G>A rs76201551 0.01542
NM_000051.4(ATM):c.1636C>G (p.Leu546Val) rs2227924 0.01541
NM_001257180.2(SLC20A2):c.1438G>A (p.Ala480Thr) rs79577461 0.01539
NM_000295.5(SERPINA1):c.774G>A (p.Lys258=) rs34112109 0.01536
NM_001355436.2(SPTB):c.2934G>A (p.Glu978=) rs72724498 0.01536
NM_005912.3(MC4R):c.307G>A (p.Val103Ile) rs2229616 0.01533
NM_001377.3(DYNC2H1):c.7122G>A (p.Leu2374=) rs116574613 0.01532
NM_001035.3(RYR2):c.4198A>G (p.Ser1400Gly) rs56229512 0.01531
NM_001114134.2(EPB42):c.1318+4C>T rs45498491 0.01529
NM_002633.3(PGM1):c.1500C>T (p.Ile500=) rs61737416 0.01523
NM_000525.4(KCNJ11):c.801C>G (p.Leu267=) rs5216 0.01521
NM_000186.4(CFH):c.245-7G>A rs35814900 0.01519
NM_194248.3(OTOF):c.2464C>T (p.Arg822Trp) rs80356570 0.01518
NM_006446.5(SLCO1B1):c.1200C>G (p.Phe400Leu) rs59113707 0.01516
NM_018136.5(ASPM):c.5821T>C (p.Cys1941Arg) rs61249253 0.01514
NM_018136.5(ASPM):c.7787T>C (p.Val2596Ala) rs79572771 0.01514
NM_144508.5(KNL1):c.727A>G (p.Ile243Val) rs76371152 0.01510
NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser) rs45494092 0.01508
NM_003664.5(AP3B1):c.687A>G (p.Leu229=) rs35496909 0.01507
NM_001369.3(DNAH5):c.3301G>A (p.Val1101Met) rs61747516 0.01505
NM_001384474.1(LOXHD1):c.1876G>T (p.Gly626Cys) rs34589386 0.01503
NM_144508.5(KNL1):c.4931A>G (p.Lys1644Arg) rs76098847 0.01498
NM_003659.4(AGPS):c.1173C>G (p.Gly391=) rs115580413 0.01496
NM_000254.3(MTR):c.-201C>G rs111840642 0.01495
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu) rs1800362 0.01494
NM_006005.3(WFS1):c.2469C>T (p.Ile823=) rs1801215 0.01494
NM_020297.4(ABCC9):c.1848C>T (p.Asp616=) rs61001398 0.01493
NM_015192.4(PLCB1):c.924A>G (p.Ser308=) rs6056003 0.01487
NM_001715.3(BLK):c.211G>A (p.Ala71Thr) rs55758736 0.01485
NM_001040108.2(MLH3):c.2533A>G (p.Ser845Gly) rs28756992 0.01483
NM_000426.4(LAMA2):c.6234A>G (p.Lys2078=) rs56920166 0.01481
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
NM_002693.3(POLG):c.128A>G (p.Gln43Arg) rs28567406 0.01478
NM_207122.2(EXT2):c.124A>G (p.Met42Val) rs4755779 0.01478
NM_020533.3(MCOLN1):c.1360-13G>A rs2305888 0.01477
NM_000030.3(AGXT):c.705G>A (p.Thr235=) rs35977912 0.01476
NM_024079.5(ALG8):c.803G>A (p.Arg268Gln) rs61995925 0.01476
NM_206933.4(USH2A):c.2109T>C (p.Asp703=) rs45555435 0.01476
NM_001369.3(DNAH5):c.3241A>G (p.Met1081Val) rs16902880 0.01472
NM_001369.3(DNAH5):c.3016A>G (p.Ser1006Gly) rs16902886 0.01470
NM_025099.6(CTC1):c.126A>G (p.Val42=) rs116271319 0.01470
NM_198578.4(LRRK2):c.4317+12del rs200829235 0.01470
NM_000098.3(CPT2):c.1055T>G (p.Phe352Cys) rs2229291 0.01469
NM_025099.6(CTC1):c.1025A>G (p.Asp342Gly) rs78390421 0.01469
NM_000136.3(FANCC):c.843+4C>T rs4647506 0.01468
NM_001277115.2(DNAH11):c.8969G>A (p.Arg2990His) rs72657371 0.01466
NM_001370298.3(FGD4):c.1954-8T>C rs115061722 0.01466
NM_005902.4(SMAD3):c.870C>T (p.Ile290=) rs117185005 0.01464
NM_003640.5(ELP1):c.3876T>G (p.Thr1292=) rs61749202 0.01463
NM_001035.3(RYR2):c.1519G>A (p.Val507Ile) rs16835270 0.01462
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln) rs11466024 0.01456
NM_000520.5(HEXA):c.-167G>A rs77707876 0.01456
NM_052859.4(RFT1):c.64-14C>T rs78419624 0.01456
NM_001267550.2(TTN):c.79783G>C (p.Asp26595His) rs56307213 0.01455
NM_006415.4(SPTLC1):c.1255-7C>T rs7863487 0.01454
NM_000094.4(COL7A1):c.89C>T (p.Thr30Ile) rs74453879 0.01453
NM_002225.5(IVD):c.*2285C>G rs114657778 0.01453
NM_000051.4(ATM):c.3161C>G (p.Pro1054Arg) rs1800057 0.01452
NM_000492.4(CFTR):c.*1043A>C rs10234329 0.01452
NM_001277115.2(DNAH11):c.9018G>A (p.Thr3006=) rs72657372 0.01452
NM_003664.5(AP3B1):c.339A>C (p.Ala113=) rs7706167 0.01450
NM_018139.3(DNAAF2):c.707C>T (p.Pro236Leu) rs74050429 0.01450
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) rs121908120 0.01450
NM_000230.3(LEP):c.*34G>A rs28954114 0.01449
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser) rs17154353 0.01449
NM_000096.4(CP):c.1099C>T (p.Arg367Cys) rs34624984 0.01447
NM_000096.4(CP):c.1209-15T>A rs35465173 0.01446
NM_000257.4(MYH7):c.4716C>T (p.Ile1572=) rs7140196 0.01445
NM_000465.4(BARD1):c.1670G>C (p.Cys557Ser) rs28997576 0.01443
NM_001276345.2(TNNT2):c.163+12G>A rs45580032 0.01441
NM_000256.3(MYBPC3):c.2601C>T (p.Ile867=) rs11570097 0.01438
NM_001114753.3(ENG):c.1794T>C (p.Gly598=) rs41358947 0.01435
NM_006005.3(WFS1):c.9C>T (p.Ser3=) rs71524363 0.01435
NM_000122.2(ERCC3):c.1485G>A (p.Glu495=) rs4150456 0.01434
NM_000447.3(PSEN2):c.185G>A (p.Arg62His) rs58973334 0.01433
NM_003119.4(SPG7):c.2188A>G (p.Asn730Asp) rs35749032 0.01431
NM_003126.4(SPTA1):c.2373C>A (p.Asp791Glu) rs7418956 0.01431
NM_000186.4(CFH):c.2236+8T>A rs7537967 0.01429
NM_001164508.2(NEB):c.11729A>G (p.Asp3910Gly) rs35740585 0.01429
NM_000251.3(MSH2):c.1077-10T>C rs17224360 0.01428
NM_024312.5(GNPTAB):c.1482G>A (p.Gln494=) rs11111008 0.01428
NM_001244008.2(KIF1A):c.2979C>T (p.Ala993=) rs116297894 0.01425
NM_005373.3(MPL):c.117G>T (p.Lys39Asn) rs17292650 0.01420
NM_004519.4(KCNQ3):c.1700+3G>A rs115092422 0.01419
NM_000257.4(MYH7):c.1002C>T (p.Asn334=) rs34803781 0.01418
NM_000350.3(ABCA4):c.2964C>T (p.Leu988=) rs61754034 0.01415
NM_000037.4(ANK1):c.3224C>T (p.Thr1075Ile) rs35213384 0.01414
NM_012120.3(CD2AP):c.1632+8G>T rs77917916 0.01414
NM_139343.3(BIN1):c.1362G>T (p.Gly454=) rs61748155 0.01414
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) rs33935154 0.01412
NM_000256.3(MYBPC3):c.1144C>T (p.Arg382Trp) rs11570076 0.01409
NM_014363.6(SACS):c.7149C>T (p.Arg2383=) rs17078608 0.01409
NM_001377.3(DYNC2H1):c.1233A>G (p.Gln411=) rs116888435 0.01403
NM_199242.3(UNC13D):c.175G>A (p.Ala59Thr) rs9904366 0.01403
NM_002471.4(MYH6):c.3979-7del rs397516766 0.01401
NM_025074.7(FRAS1):c.11717T>C (p.Ile3906Thr) rs61748814 0.01397
NM_017755.5(NSUN2):c.-189C>A rs8192122 0.01396
NM_000051.4(ATM):c.2614C>T (p.Pro872Ser) rs3218673 0.01393
NM_001267550.2(TTN):c.49985A>C (p.Asn16662Thr) rs36043230 0.01390
NM_020247.5(COQ8A):c.993C>T (p.Phe331=) rs41303129 0.01390
NM_004560.4(ROR2):c.75G>A (p.Leu25=) rs148237260 0.01389
NM_001367624.2(ZNF469):c.10708G>A (p.Ala3570Thr) rs57052487 0.01385
NM_007294.4(BRCA1):c.*36C>G rs3092995 0.01385
NM_000179.3(MSH6):c.1164C>T (p.His388=) rs55708305 0.01384
NM_024596.5(MCPH1):c.1719C>T (p.Ser573=) rs35551093 0.01384
NM_018136.5(ASPM):c.2751C>T (p.Ala917=) rs33987824 0.01382
NM_000110.4(DPYD):c.1601G>A (p.Ser534Asn) rs1801158 0.01380
NM_014855.3(AP5Z1):c.2379G>T (p.Thr793=) rs77393809 0.01379
NM_016630.7(SPG21):c.843C>T (p.Tyr281=) rs147428832 0.01378
NM_006493.4(CLN5):c.381T>G (p.Thr127=) rs34481987 0.01377
NM_001558.4(IL10RA):c.181C>G (p.Leu61Val) rs4252250 0.01376
NM_000352.6(ABCC8):c.1158C>T (p.Asn386=) rs60824529 0.01375
NM_002857.4(PEX19):c.879T>C (p.Gly293=) rs74125561 0.01375
NM_153006.3(NAGS):c.182A>G (p.Glu61Gly) rs113134544 0.01375
NM_000540.3(RYR1):c.7835+7C>T rs114522234 0.01374
NM_001082971.2(DDC):c.629C>T (p.Pro210Leu) rs6262 0.01372
NM_002103.5(GYS1):c.1246A>G (p.Met416Val) rs5447 0.01369
NM_001384474.1(LOXHD1):c.3269G>A (p.Arg1090Gln) rs118174674 0.01368
NM_015272.5(RPGRIP1L):c.2959-15T>C rs11863101 0.01368
NM_001164508.2(NEB):c.195G>A (p.Pro65=) rs79524813 0.01367
NM_014855.3(AP5Z1):c.281C>G (p.Ser94Cys) rs11549839 0.01367
NM_000179.3(MSH6):c.2272C>T (p.Leu758=) rs56371757 0.01363
NM_001267550.2(TTN):c.105769G>A (p.Glu35257Lys) rs56324595 0.01363
NM_153676.4(USH1C):c.388G>A (p.Val130Ile) rs55843567 0.01363
NM_000064.4(C3):c.1407G>C (p.Glu469Asp) rs11569422 0.01362
NM_004655.4(AXIN2):c.1615G>A (p.Val539Met) rs9913621 0.01361
NM_001844.5(COL2A1):c.1266+7G>A rs41317915 0.01359
NM_001386140.1(MTTP):c.136C>G (p.Arg46Gly) rs141736123 0.01357
NM_000282.4(PCCA):c.1429+7A>G rs16957276 0.01356
NM_000112.4(SLC26A2):c.2220A>G (p.Ter740=) rs61732052 0.01353
NM_014249.4(NR2E3):c.505C>T (p.Leu169=) rs1805022 0.01351
NM_024105.4(ALG12):c.469+13C>T rs78916708 0.01349
NM_001040108.2(MLH3):c.691A>C (p.Lys231Gln) rs28756981 0.01348
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967 0.01348
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg) rs118203576 0.01347
NM_000092.5(COL4A4):c.4656G>A (p.Met1552Ile) rs77104306 0.01346
NM_003748.4(ALDH4A1):c.1631C>T (p.Pro544Leu) rs72953172 0.01344
NM_000122.2(ERCC3):c.1027+3A>G rs4150417 0.01342
NM_012434.5(SLC17A5):c.886G>A (p.Val296Ile) rs16883930 0.01342
NM_001367624.2(ZNF469):c.3125G>A (p.Arg1042Gln) rs181077813 0.01341
NM_002474.3(MYH11):c.4770G>A (p.Lys1590=) rs11648119 0.01341
NM_000037.4(ANK1):c.4008G>A (p.Pro1336=) rs147536061 0.01340
NM_213599.3(ANO5):c.*3155T>C rs78929863 0.01340
NM_001365536.1(SCN9A):c.2827A>C (p.Met943Leu) rs12478318 0.01339
NM_001377.3(DYNC2H1):c.10479C>G (p.Leu3493=) rs151056947 0.01339
NM_017882.3(CLN6):c.486+8C>T rs149692285 0.01339
NM_000325.6(PITX2):c.*471G>A rs75911264 0.01337
NM_001277115.2(DNAH11):c.6683+13C>G rs17145077 0.01337
NM_004304.5(ALK):c.-5G>A rs56270786 0.01336
NM_000207.3(INS):c.36G>A (p.Ala12=) rs3842744 0.01335
NM_003748.4(ALDH4A1):c.1162T>C (p.Phe388Leu) rs41273175 0.01334
NM_182914.3(SYNE2):c.8597C>T (p.Thr2866Met) rs114508894 0.01330
NM_000237.3(LPL):c.953A>G (p.Asn318Ser) rs268 0.01327
NM_001134831.2(AHI1):c.1152-11T>G rs113317693 0.01324
NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu) rs4369876 0.01322
NM_003850.3(SUCLA2):c.510A>G (p.Ala170=) rs35568795 0.01320
NM_014324.6(AMACR):c.782T>C (p.Met261Thr) rs3195678 0.01320
NM_001166114.2(PNPLA6):c.181G>C (p.Val61Leu) rs112732576 0.01318
NM_020312.4(COQ9):c.921+13C>T rs115677652 0.01317
NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp) rs35730265 0.01315
NM_001369.3(DNAH5):c.5658C>T (p.Tyr1886=) rs6880264 0.01314
NM_018249.6(CDK5RAP2):c.880-7A>G rs76132121 0.01314
NM_000466.3(PEX1):c.1671-7T>C rs74519968 0.01312
NM_000257.4(MYH7):c.1767C>T (p.Asn589=) rs3729816 0.01311
NM_003597.5(KLF11):c.659C>T (p.Thr220Met) rs34336420 0.01310
NM_000198.4(HSD3B2):c.707T>C (p.Leu236Ser) rs35887327 0.01309
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln) rs607969 0.01309
NM_020320.5(RARS2):c.63A>G (p.Pro21=) rs7748563 0.01309
NM_015506.3(MMACHC):c.*269A>G rs35067820 0.01308
NM_000271.5(NPC1):c.1300C>T (p.Pro434Ser) rs61731962 0.01305
NM_001267550.2(TTN):c.66614G>A (p.Arg22205Lys) rs72646869 0.01305
NM_001367624.2(ZNF469):c.2034C>T (p.Ala678=) rs58401704 0.01305
NM_000352.6(ABCC8):c.3329+6C>T rs113873225 0.01304
NM_001289808.2(CRYAB):c.165G>A (p.Leu55=) rs2228387 0.01303
NM_207122.2(EXT2):c.1761G>A (p.Thr587=) rs16937864 0.01303
NM_025137.4(SPG11):c.2083G>A (p.Ala695Thr) rs78183930 0.01302
NM_006610.4(MASP2):c.1617T>C (p.Asn539=) rs72550845 0.01301
NM_015046.7(SETX):c.6507G>A (p.Gly2169=) rs34073320 0.01300
NM_153427.2(PITX2):c.-392G>T rs113778706 0.01298
NM_005996.4(TBX3):c.2082A>G (p.Lys694=) rs34831817 0.01295
NM_013339.4(ALG6):c.1357C>G (p.Leu453Val) rs41285372 0.01295
NM_001035.3(RYR2):c.11988C>T (p.Gly3996=) rs56226196 0.01290
NM_000525.4(KCNJ11):c.1143G>A (p.Lys381=) rs8175351 0.01289
NM_001232.4(CASQ2):c.226G>A (p.Val76Met) rs10801999 0.01289
NM_024312.5(GNPTAB):c.1042A>C (p.Ile348Leu) rs7958709 0.01289
NM_006415.4(SPTLC1):c.781-6A>G rs138268337 0.01288
NM_014336.5(AIPL1):c.286G>A (p.Val96Ile) rs62619924 0.01285
NM_025137.4(SPG11):c.1348A>G (p.Ile450Val) rs3759873 0.01282
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047 0.01281
NM_000037.4(ANK1):c.654C>A (p.Asn218Lys) rs61735313 0.01280
NM_001267550.2(TTN):c.100094G>A (p.Arg33365Gln) rs55742743 0.01280
NM_020247.5(COQ8A):c.63G>A (p.Ala21=) rs11549709 0.01280
NM_000092.5(COL4A4):c.2996G>A (p.Gly999Glu) rs13027659 0.01279
NM_001909.5(CTSD):c.1215C>A (p.Gly405=) rs138733377 0.01277
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln) rs68080670 0.01276
NM_198578.4(LRRK2):c.6241A>G (p.Asn2081Asp) rs33995883 0.01276
NM_001875.5(CPS1):c.4126G>A (p.Gly1376Ser) rs140578009 0.01275
NM_001384910.1(GUCA1A):c.567C>T (p.Asp189=) rs34925828 0.01271
NM_000352.6(ABCC8):c.3612C>T (p.Ala1204=) rs149861153 0.01269
NM_002529.4(NTRK1):c.2047-11G>A rs79173278 0.01269
NM_000312.4(PROC):c.1107G>A (p.Pro369=) rs61731660 0.01266
NM_016203.3(PRKAG2):c.-520C>T rs73160072 0.01266
NM_019032.6(ADAMTSL4):c.3139C>A (p.Arg1047=) rs113799188 0.01266
NM_000426.4(LAMA2):c.3613A>G (p.Thr1205Ala) rs35889149 0.01262
NM_138694.4(PKHD1):c.1234-5C>T rs116124750 0.01262
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly) rs1799807 0.01259
NM_001267550.2(TTN):c.4630A>G (p.Ile1544Val) rs72647877 0.01259
NM_001277115.2(DNAH11):c.9102+8G>A rs72657374 0.01255
NM_018139.3(DNAAF2):c.78C>T (p.Ala26=)