ClinVar Miner

Variants from Baylor Genetics with conflicting interpretations

Location: United States  Primary collection method: clinical testing
Minimum review status of the submission from Baylor Genetics: Collection method of the submission from Baylor Genetics:
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
24457 9047 72 5406 772 84 1539 7210

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
Baylor Genetics pathogenic likely pathogenic uncertain significance likely benign benign affects association drug response established risk allele likely risk allele pathogenic, low penetrance protective risk factor other
pathogenic 33 2868 436 15 13 19 1 1 3 1 8 1 16 20
likely pathogenic 2536 38 817 11 1 6 1 0 1 1 0 0 3 3
uncertain significance 140 177 1 626 172 2 0 0 0 1 0 0 5 0
likely benign 2 2 9 0 7 0 0 0 0 0 0 0 0 0
benign 1 0 3 5 0 0 0 0 0 0 0 0 0 0

Submitter to submitter summary #

Total submitters: 392
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 6437 0 1789 463 11 313 2576
Counsyl 0 1551 0 1192 9 0 390 1591
Myriad Genetics, Inc. 0 1328 0 575 118 0 50 743
Genome-Nilou Lab 0 962 0 396 24 0 76 495
Fulgent Genetics, Fulgent Genetics 0 1550 0 354 2 0 64 420
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1523 0 343 0 0 19 362
OMIM 0 1319 0 240 0 41 68 349
Natera, Inc. 0 1705 0 198 21 0 124 343
Illumina Laboratory Services, Illumina 0 798 0 79 96 0 162 335
Revvity Omics, Revvity 0 1012 0 246 2 0 82 330
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 297 0 86 3 0 58 147
Mendelics 0 427 0 87 22 0 33 142
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 2 35 106 0 0 1 142
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 158 0 58 1 0 39 98
Institute of Human Genetics, University of Leipzig Medical Center 0 305 0 58 5 1 28 92
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 195 0 49 5 0 25 79
3billion 0 331 0 59 0 0 18 77
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 236 0 66 0 2 6 73
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 97 0 40 2 0 25 67
MGZ Medical Genetics Center 0 275 0 48 4 0 11 63
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 270 0 42 3 0 14 59
Neuberg Centre For Genomic Medicine, NCGM 0 196 0 42 0 0 17 59
All of Us Research Program, National Institutes of Health 0 312 0 36 5 0 17 58
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 162 0 41 4 0 11 56
GeneReviews 0 554 33 18 0 0 2 53
SIB Swiss Institute of Bioinformatics 0 28 0 40 1 0 7 48
Leiden Open Variation Database 0 172 0 34 0 0 13 47
ClinGen PAH Variant Curation Expert Panel 0 145 0 40 0 0 6 46
Ocular Genomics Institute, Massachusetts Eye and Ear 0 58 0 35 0 0 11 46
GeneDx 0 163 0 33 0 0 11 43
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 111 0 31 0 0 12 43
Genomics England Pilot Project, Genomics England 0 31 0 36 0 0 4 40
ClinGen ACADVL Variant Curation Expert Panel, ClinGen 0 38 0 33 0 0 7 40
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 87 0 25 2 0 12 39
Breast Cancer Information Core (BIC) (BRCA1) 0 271 0 1 0 0 36 37
Ambry Genetics 0 253 0 5 25 0 6 36
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova 0 26 0 17 0 0 15 32
Genetic Services Laboratory, University of Chicago 0 165 0 23 0 0 6 29
Genetics and Molecular Pathology, SA Pathology 0 159 0 24 0 0 5 29
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 100 0 25 0 0 3 28
Sharing Clinical Reports Project (SCRP) 0 213 0 12 4 0 12 28
Eurofins Ntd Llc (ga) 0 61 0 9 0 1 20 28
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 137 0 21 0 0 7 28
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 84 0 23 0 0 4 27
National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center 0 2 0 0 0 24 0 24
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 76 0 19 1 0 3 23
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 51 0 19 0 0 4 23
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 10 0 14 0 0 9 23
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 295 0 19 3 0 0 22
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel 0 88 0 16 0 0 6 22
Clinical Biochemistry Laboratory, Health Services Laboratory 0 52 0 21 0 0 0 21
Centogene AG - the Rare Disease Company 0 103 0 19 0 0 2 21
Sema4, Sema4 0 71 0 5 16 0 0 21
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 59 0 16 0 0 6 21
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 161 0 18 0 0 3 21
PreventionGenetics, part of Exact Sciences 0 62 0 11 1 0 8 20
CeGaT Center for Human Genetics Tuebingen 0 58 0 15 0 0 5 20
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 35 0 17 0 0 3 20
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 39 0 16 0 0 3 19
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 89 0 6 9 1 3 19
Undiagnosed Diseases Network, NIH 0 72 0 9 0 0 10 18
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 15 0 3 0 0 13 16
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 89 0 12 0 0 4 16
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 0 16 0 15 0 0 1 16
Laboratory of Genetics in Ophthalmology, Institut Imagine 0 47 0 15 0 0 1 16
New York Genome Center 0 87 0 10 0 1 6 16
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 30 0 9 1 0 5 15
Johns Hopkins Genomics, Johns Hopkins University 0 69 0 11 2 0 2 15
Lifecell International Pvt. Ltd 0 41 0 13 0 0 2 15
Suma Genomics 0 18 0 10 0 0 5 15
Division of Human Genetics, Children's Hospital of Philadelphia 0 42 0 13 0 0 1 14
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 27 0 6 0 0 8 14
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 172 0 5 5 0 4 14
Giacomini Lab, University of California, San Francisco 0 9 0 2 1 0 11 14
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 77 0 5 4 0 4 13
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 66 0 12 0 0 1 13
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel 0 10 0 2 11 0 0 13
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 79 0 7 0 1 4 12
Cancer Genetics Laboratory, Peter MacCallum Cancer Centre 0 8 0 11 1 0 0 12
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 43 0 8 1 0 3 12
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 46 0 8 0 0 4 12
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 57 0 8 0 1 3 12
King Laboratory, University of Washington 0 17 0 8 0 0 3 11
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 10 0 7 0 0 5 11
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 37 0 10 0 0 1 11
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 294 0 11 0 0 0 11
Daryl Scott Lab, Baylor College of Medicine 0 65 0 5 1 0 5 11
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 29 0 9 1 0 1 11
ATS em Genética Clínica, Universidade Federal do Rio Grande do Sul 0 7 0 11 0 0 0 11
DASA 0 84 0 11 0 0 0 11
BRCAlab, Lund University 0 133 0 10 0 0 1 11
CSER _CC_NCGL, University of Washington 0 13 0 3 2 0 5 10
Department of Pathology and Laboratory Medicine, Sinai Health System 0 41 0 3 1 2 4 10
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 32 0 9 0 0 0 9
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 80 0 4 3 0 2 9
SingHealth Duke-NUS Institute of Precision Medicine 0 9 0 4 0 0 5 9
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 44 0 9 0 0 0 9
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 38 0 8 0 0 1 9
Reproductive Health Research and Development, BGI Genomics 0 28 0 5 0 0 3 8
Molecular Genetics, Royal Melbourne Hospital 0 30 0 7 0 0 1 8
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 30 0 4 1 0 2 7
UCLA Clinical Genomics Center, UCLA 0 8 0 6 0 0 1 7
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 14 0 6 0 0 1 7
Department of Pediatrics, Gifu University 0 26 0 5 0 0 2 7
deCODE genetics, Amgen 0 9 0 6 0 0 1 7
Pars Genome Lab 0 11 0 0 2 0 5 7
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 25 0 5 0 0 1 6
Mayo Clinic Laboratories, Mayo Clinic 0 42 0 4 0 0 3 6
Inserm U 954, Faculté de Médecine de Nancy 0 2 3 3 0 0 0 6
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 6 0 0 0 6
Molecular Biology Laboratory, Fundació Puigvert 0 12 0 6 0 0 0 6
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 13 0 5 0 0 1 6
ClinGen Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel, ClinGen 0 23 0 4 0 0 2 6
Centre for Human Genetics 0 7 0 5 0 0 0 5
Hadassah Hebrew University Medical Center 0 8 0 5 0 0 0 5
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 4 0 0 1 5
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 6 0 5 0 0 0 5
Color Diagnostics, LLC DBA Color Health 0 15 0 3 2 0 0 5
NIHR Bioresource Rare Diseases, University of Cambridge 0 5 0 4 0 0 1 5
Yale Center for Mendelian Genomics, Yale University 0 7 0 3 0 0 2 5
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 10 0 5 0 0 0 5
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 0 3 0 0 2 5
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 23 0 2 1 0 2 5
Clinical Genomics Program, Stanford Medicine 0 18 0 3 0 0 2 5
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 0 2 1 2 0 5
Center for Precision Medicine, Meizhou People's Hospital 0 20 0 4 1 0 0 5
Department of Medical and Surgical Sciences, University of Bologna 0 1 0 1 4 0 0 5
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen 0 13 0 2 1 0 2 5
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital 0 19 0 4 0 0 1 5
Baylor Genetics 40656 54 0 1 0 0 3 4
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 12 0 0 0 0 4 4
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 14 0 4 0 0 0 4
Elsea Laboratory, Baylor College of Medicine 0 14 0 0 0 0 4 4
Institute of Human Genetics, Cologne University 0 13 0 3 0 0 1 4
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 5 0 3 0 0 1 4
Department of Medical Genetics, Oslo University Hospital 0 47 0 4 0 0 0 4
Service de Génétique Moléculaire, Hôpital Robert Debré 0 11 0 2 2 0 0 4
Duke University Health System Sequencing Clinic, Duke University Health System 0 15 0 2 0 0 2 4
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 1 0 4 0 0 0 4
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 21 0 3 0 1 0 4
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 13 0 3 0 0 1 4
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 17 0 2 1 0 1 4
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 19 0 4 0 0 0 4
Institute of Human Genetics, Heidelberg University 0 7 0 4 0 0 0 4
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 2 0 4 0 0 0 4
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 56 0 3 0 0 1 4
Ding PR Lab, Sun Yat-sen University Cancer Center 0 7 0 2 0 0 2 4
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 14 0 3 0 0 1 4
Baumgartner lab, University Children's Hospital Zurich 0 11 0 4 0 0 0 4
Eurofins-Biomnis 0 7 0 3 0 0 1 4
Arcensus 0 12 0 4 0 0 0 4
Athena Diagnostics Inc 0 20 0 3 0 0 1 3
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 4 1 1 0 0 1 3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 7 0 2 0 0 1 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 49 0 3 0 0 0 3
Institute of Medical Molecular Genetics, University of Zurich 0 1 0 3 0 0 0 3
Quest Diagnostics Nichols Institute San Juan Capistrano 0 33 0 1 0 0 2 3
Blueprint Genetics 0 13 0 1 0 0 2 3
Familial Cancer Clinic, Veneto Institute of Oncology 0 0 0 2 0 0 1 3
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 6 0 2 1 0 0 3
Pathway Genomics 0 33 0 1 0 0 2 3
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 0 2 0 0 1 3
HerediLab, Inc. 0 1 0 3 0 0 0 3
Department of Laboratory Medicine and Genetics, Trillium Health Partners Credit Valley Hospital 0 6 0 2 0 0 1 3
Kariminejad - Najmabadi Pathology & Genetics Center 0 6 0 3 0 0 0 3
Sharon lab, Hadassah-Hebrew University Medical Center 0 10 0 1 0 0 2 3
Genomic Medicine Lab, University of California San Francisco 0 32 0 3 0 0 0 3
Institute of Human Genetics, University Hospital Muenster 0 11 0 3 0 0 0 3
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 3 0 3 0 0 0 3
GenomeConnect - Simons Searchlight 0 8 0 3 0 0 0 3
Paris Brain Institute, Inserm - ICM 0 12 0 2 1 0 0 3
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 16 0 2 0 0 1 3
DBGen Ocular Genomics 0 11 0 2 0 0 1 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 21 0 0 0 0 3 3
Molecular Endocrinology Laboratory, Christian Medical College 0 11 0 2 0 0 1 3
ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Variant Curation Expert Panel, ClinGen 0 29 0 3 0 0 0 3
ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel 0 5 0 0 2 0 1 3
Collagen Diagnostic Laboratory, University of Washington 0 1 0 2 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 2 2
Molecular Genetics Diagnostic Laboratory, Detroit Medical Center University Laboratories 0 2 0 2 0 0 0 2
Institute for Human Genetics, University Medical Center Freiburg 0 4 0 2 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 17 0 2 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 15 0 1 0 1 0 2
CFTR2 0 13 0 0 1 0 1 2
PXE International 0 1 0 2 0 0 0 2
LDLR-LOVD, British Heart Foundation 0 0 0 2 0 0 0 2
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 1 0 2 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 10 0 2 0 0 0 2
CHU Sainte-Justine Research Center, University of Montreal 0 2 0 1 0 0 1 2
Department of Molecular and Human Genetics, Baylor College of Medicine 0 3 0 0 0 0 2 2
Institute for Integrative and Experimental Genomics, University of Luebeck 0 0 0 1 0 0 1 2
Pediatric Department, Peking University First Hospital 0 1 0 2 0 0 0 2
Laboratory of Human Genetics, Universidade de São Paulo 0 2 0 1 0 0 1 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 0 0 2 0 0 0 2
Medical Genetics, University of Parma 0 3 0 0 1 0 1 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 8 0 2 0 0 0 2
Center for Human Genetics, University of Leuven 0 0 0 2 0 0 0 2
Gene Discovery Core-Manton Center, Boston Children's Hospital 0 1 0 1 0 0 1 2
Hereditary Research Laboratory, Bethlehem University 0 2 0 1 0 0 1 2
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 1 0 2 0 0 0 2
Donald Williams Parsons Laboratory, Baylor College of Medicine 0 3 0 1 0 0 1 2
Robarts Research Institute, Western University 0 0 0 2 0 0 0 2
Medgenome Labs Pvt Ltd 0 1 0 2 0 0 0 2
Rare Disease Group, Clinical Genetics, Karolinska Institutet 0 0 0 1 0 0 2 2
Division of Hearing and Balance Research, National Hospital Organization Tokyo Medical Center 0 11 0 2 0 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 3 0 0 0 0 2 2
Pediatric Metabolic Diseases, Hacettepe University 0 4 0 2 0 0 0 2
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital 0 0 0 2 0 0 0 2
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 2 0 2 0 0 0 2
Variantyx, Inc. 0 3 0 1 0 1 0 2
GeneID Lab - Advanced Molecular Diagnostics 0 3 0 2 0 0 0 2
Kids Research, The Children's Hospital at Westmead 0 3 0 1 0 0 1 2
Gharavi Laboratory, Columbia University 0 0 0 0 0 0 2 2
Department of Biotechnology and Microbiology, Karnatak University Dharwad 0 0 0 0 0 0 2 2
Laboratory of Human Genetics, Institute of Biosciences - University of Sao Paulo 0 3 0 0 0 0 2 2
University of Washington Department of Laboratory Medicine, University of Washington 0 19 0 0 2 0 0 2
Biochemical Genetics Department, Cyprus Institute of Neurology and Genetics 0 1 0 1 0 0 1 2
CFTR-France 0 14 0 2 0 0 0 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 8 0 0 0 0 2 2
Division of Medical Genetics, University of Washington 0 36 0 0 0 0 2 2
Section for Clinical Neurogenetics, University of Tübingen 0 5 0 2 0 0 0 2
Istanbul Faculty of Medicine, Istanbul University 0 0 0 2 0 0 0 2
Child Health and Human Development Program, Research Institute of the McGill University Health Center 0 5 0 2 0 0 0 2
Molecular Genetics Lab, CHRU Brest 0 7 0 2 0 0 0 2
Laboratory of Molecular Genetics, Children's Memorial Health Institute 0 4 0 2 0 0 0 2
Precision Medicine Center, Zhengzhou University 0 3 0 1 0 0 1 2
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 2 0 0 0 2
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen 0 3 0 1 0 0 1 2
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar 0 3 0 2 0 0 0 2
Laan Lab, Human Genetics Research Group, University of Tartu 0 4 0 2 0 0 0 2
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences 0 1 0 2 0 0 0 2
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 3 0 2 0 0 0 2
Cellular and Molecular Medicine Research Institute, Urmia University of Medical Sciences 0 6 0 1 0 0 1 2
ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel, ClinGen 0 5 0 2 0 0 0 2
Vasylyeva lab, Texas Tech University Health Sciences Center 0 7 0 1 0 0 1 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 17 0 0 0 0 1 1
Claritas Genomics 0 6 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 26 0 0 0 0 1 1
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 0 1 0 1 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 0 1 0 1 0 0 0 1
Clinical Genetics, Academic Medical Center 0 8 0 1 0 0 0 1
Institute of Human Genetics, Medical University Innsbruck 0 14 0 1 0 0 0 1
Endocrinology Clinic, Seth G.S. Medical College 0 0 0 1 0 0 0 1
Eye Genetics Research Group, Children's Medical Research Institute 0 0 0 1 0 0 0 1
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 0 6 0 0 0 0 1 1
PharmGKB 0 0 0 0 0 1 0 1
Breast Cancer Information Core (BIC) (BRCA2) 0 13 0 0 0 0 1 1
RettBASE 0 6 0 0 0 0 1 1
UF de Génétique Moléculaire, Hôpital Lariboisière 0 0 0 1 0 0 0 1
ITMI 0 5 0 1 0 0 0 1
Center for Genetic Medicine Research, Children's National Medical Center 0 0 0 1 0 0 0 1
Shaikh Laboratory, University of Colorado 0 0 0 1 0 0 0 1
Center for Medical Genetics Ghent, University of Ghent 0 7 0 0 1 0 0 1
Laboratory of Molecular Oncology, N.N. Petrov Institute of Oncology 0 1 0 0 0 0 1 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 3 0 1 0 0 0 1
University Children's Hospital, University of Zurich 0 3 0 1 0 0 0 1
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics 0 0 0 0 0 1 0 1
Diagnostic Molecular Genetics Laboratory, Memorial Sloan Kettering Cancer Center 0 0 0 1 0 0 0 1
National Institute of Mental Health and Neurosciences 0 1 0 1 0 0 0 1
Department of Hematology, University of Health Sciences 0 0 0 1 0 0 0 1
GeneKor MSA 0 17 0 1 0 0 0 1
Center for Individualized Medicine, Mayo Clinic 0 1 0 1 0 0 0 1
UW Hindbrain Malformation Research Program, University of Washington 0 8 0 1 0 0 0 1
Sanford Children's Health Research Center, Sanford-Burnham-Prebys Medical Discovery Institute 0 0 0 1 0 0 0 1
Genome Sciences Centre, British Columbia Cancer Agency 0 0 0 1 0 0 0 1
Prenatal Medicine Munich, Prenatal Medicine Munich 0 0 0 0 0 0 1 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 5 0 0 0 0 1 1
Genetic Diagnostic Laboratory, University of Szeged 0 1 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 9 0 0 0 0 1 1
Laboratory of Prof. Karen Avraham, Tel Aviv University 0 3 0 1 0 0 0 1
Leeds Amelogenesis Imperfecta Research Group, University of Leeds 0 2 0 1 0 0 0 1
Neurogenetics Laboratory, GH Pitie Salpetriere APHP 0 0 0 1 0 0 0 1
Department of Prenatal Diagnosis, Women’s Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital 0 0 0 1 0 0 0 1
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 0 2 0 1 0 0 0 1
Center for Statistical Genetics, Columbia University 0 0 0 1 0 0 1 1
Database of Curated Mutations (DoCM) 0 0 0 1 0 0 0 1
Department of Medical Genetics, University Hospital of North Norway 0 1 0 1 0 0 0 1
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge 0 1 0 1 0 0 0 1
GenePathDx, GenePath diagnostics 0 5 0 1 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 5 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 4 0 0 0 0 1 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 10 0 1 0 0 0 1
Neurology Department, Peking University First Hospital 0 6 0 0 0 0 1 1
Center of Medical Genetics and Primary Health Care 0 9 0 1 0 0 0 1
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 0 0 1 0 0 0 1
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation 0 0 0 1 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 0 1 0 0 0 0 1 1
Muenke lab, National Institutes of Health 0 1 0 0 0 0 1 1
Phosphorus, Inc. 0 2 0 0 0 0 1 1
Embryology Laboratory, Victor Chang Cardiac Research Institute 0 0 0 0 0 0 1 1
Laboratoire de Biologie et Génétique du Cancer, Centre François Baclesse 0 1 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 5 0 1 0 0 1 1
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 0 12 0 1 0 0 0 1
Fundacion Hipercolesterolemia Familiar 0 0 0 1 0 0 0 1
Iberoamerican FH Network 0 0 0 1 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 3 0 1 0 0 0 1
Institute of Cellular and Molecular Medicine, Copenhagen University 0 0 0 1 0 0 0 1
Genetics Department, University Hospital of Toulouse 0 0 0 1 0 0 0 1
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe 0 0 0 0 0 0 1 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 2 0 1 0 0 0 1
Dan Cohn Lab, University Of California Los Angeles 0 0 0 1 0 0 0 1
Unidade de Bioquimica Genetica, Centro Hospitalar do Porto 0 0 0 1 0 0 0 1
Jacobi Internal Medicine Residency Program, Jacobi Medical Center 0 0 0 1 0 0 0 1
ClinGen RASopathy Variant Curation Expert Panel 0 16 0 0 0 0 1 1
Department of Pathology and Genetics, University of Gothenburg 0 0 0 1 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 4 0 1 0 0 0 1
Schule lab, Hertie Institute for Clinical Brain Research 0 0 0 0 0 0 1 1
Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital 0 2 0 1 0 0 0 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 0 0 0 0 1 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 2 0 0 0 0 1 1
Cancer Diagnostics Division, Gene Solutions 0 0 0 1 0 0 0 1
Raymond Lab, University of Cambridge 0 0 0 1 0 0 0 1
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 0 0 0 1 0 0 0 1
Uitto Lab, Thomas Jefferson University 0 1 0 0 0 0 1 1
Laboratory of Medical Genetics, University of Torino 0 6 0 0 0 0 1 1
Core Molecular Diagnostic Lab, McGill University Health Centre 0 0 0 1 0 0 0 1
Molecular Pathology Diagnostics Labratory, University of Iowa Hospitals & Clinics 0 0 0 1 0 0 0 1
Breda Genetics srl 0 10 0 1 0 0 0 1
Genetic Diseases Diagnostic Center, Koc University Hospital 0 0 0 1 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 0 4 0 1 0 0 0 1
Laboratory of Genetics and Genomics, Institute for Developing Science and Health Initiatives Foundation 0 0 0 1 0 0 0 1
Wessex Regional Genetics Laboratory, Salisbury District Hospital 0 2 0 1 0 0 0 1
Biochemistry Laboratory of CDMU, Chengde Medical University 0 4 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 11 0 0 0 0 1 1
Medical Affairs, Dicerna Pharmaceuticals 0 0 0 0 0 0 1 1
Molecular Diagnostics, Microbiology, Virology, Parasitology and Genetics, Sofia University, St. Kliment Ohridski 0 0 0 1 0 0 0 1
Genome Medicine, Institute for Basic Research in Developmental Disabilities 0 4 0 0 0 0 1 1
Molecular Pathology and Genetics, King Abdulaziz Medical City, Ministry of National Guard - Health Affairs 0 0 0 1 0 0 0 1
ClinGen TP53 Variant Curation Expert Panel, ClinGen 0 2 0 0 1 0 0 1
NxGen MDx 0 0 0 1 0 0 0 1
Genesis Genoma Lab, Genesis Genoma Lab 0 0 0 0 1 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 1 0 0 0 1
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 0 4 0 0 1 0 0 1
MedGen Diagnostic Laboratory, MedGen Medical Centre 0 1 0 1 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 0 2 0 0 0 0 1 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 1 0 0 0 1
Rare Disease Group, University of Exeter 0 0 0 1 0 0 0 1
Reproductive Endocrine Unit, Massachusetts General Hospital 0 1 0 1 0 0 0 1
Molecular Genetics laboratory, Necker Hospital 0 0 0 1 0 0 0 1
Children’s Center Hospital, Tehran University of Medical Sciences 0 0 0 0 0 1 0 1
AiLife Diagnostics, AiLife Diagnostics 0 4 0 1 0 0 0 1
Roden Lab, Vanderbilt University Medical Center 0 0 0 1 0 0 0 1
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen 0 1 0 0 0 0 1 1
Department of Pathophysiology and Transplantation, University of Milan 0 2 0 1 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 0 3 0 1 0 0 0 1
Shieh Lab, University of California, San Francisco 0 4 0 1 0 0 0 1
Medical Genetics Lab, Xi'an People's Hospital(Xi'an Fourth Hospital) 0 0 0 1 0 0 0 1
Pediatric Department, Xiangya Hospital, Central South University 0 7 0 1 0 0 0 1
Department of Medical Laboratory Science, Faculty of Allied Health Sciences, University of Peradeniya 0 3 0 0 0 0 1 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 0 0 1 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 1 0 1 0 0 0 1
Neurogenetic Laboratory, Second Faculty of Medicine, Charles University 0 1 0 1 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 0 9 0 1 0 0 0 1
Hereditary Cancer Group, L’Institut d'Investigació Biomèdica de Bellvitge 0 1 0 1 0 0 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
Beijing Obstetrics and Gynecology Hospital, Capital Medical University 0 0 0 1 0 0 0 1
Clinical Cancer Genomics Laboratory, City of Hope Comprehensive Cancer Center 0 0 0 1 0 0 0 1
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II 0 0 0 1 0 0 0 1
Vockley Lab, University of Pittsburgh 0 0 0 1 0 0 0 1
Nanfang Hospital, Southern Medical University 0 0 0 1 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 0 2 0 1 0 0 0 1
Department of Neurology, Second Xiangya Hospital of Central South University 0 0 0 1 0 0 0 1
Imperial College London Diabetes Centre, Mubadala Healthcare 0 1 0 1 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 22 0 1 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 12 0 1 0 0 0 1
Thalassemia Center, San Luigi University Hospital 0 0 0 1 0 0 0 1
Molecular Lab, Department of Haematology, Christian Medical College 0 4 0 1 0 0 0 1
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska" 0 4 0 1 0 0 0 1
IU Genetic Testing Laboratories, Indiana University School of Medicine 0 0 0 1 0 0 0 1
Institute of Neurology, Charite University of Medicine 0 0 0 0 0 0 1 1
ClinGen FBN1 Variant Curation Expert Panel, ClinGen 0 0 0 0 1 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 4 0 1 0 0 0 1
Dunham Lab, University of Washington 0 5 0 0 0 0 1 1
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology 0 1 0 1 0 0 0 1
Pangenia Genomics, Pangenia Inc. 0 2 0 0 0 0 1 1
The Shared Resource Centre "Genome", Research Centre for Medical Genetics 0 5 0 1 0 0 0 1
Human Genetics Laboratory, Amsterdam University Medical Center 0 0 0 0 0 0 1 1
Chao Lab, Baylor College of Medicine, Texas Children's Hospital 0 0 0 1 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 0 2 0 1 0 0 0 1
Inherited Neuropathy Consortium Ii, University Of Miami 0 2 0 0 0 0 1 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 0 4 0 1 0 0 0 1
UAEU Genomics Laboratory, United Arab Emirates University 0 1 0 1 0 0 0 1
Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) 0 1 0 1 0 0 0 1
Fetal Health Research Center, Hope Generation Foundation 0 0 0 1 0 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 3 0 1 0 0 0 1
Department of Rehabilitation Medicine, Chungnam National University Hospital 0 0 0 0 0 0 1 1
Centre for Population Genomics, CPG 0 6 0 0 1 0 0 1
Coban-Akdemir Lab, University of Texas Health Science Center 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 7210
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941 0.29115
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
NM_001171.6(ABCC6):c.793A>G (p.Arg265Gly) rs72657698 0.06836
NM_000140.5(FECH):c.315-48T>C rs2272783 0.06200
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309 0.04051
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03880
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426 0.03864
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_130839.5(UBE3A):c.477A>T (p.Ala159=) rs28528079 0.03018
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580 0.02950
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln) rs61747728 0.02796
NM_130839.5(UBE3A):c.373T>C (p.Leu125=) rs61734190 0.02311
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025 0.01762
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707 0.00868
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser) rs1800307 0.00653
NM_005529.7(HSPG2):c.2357A>G (p.Asn786Ser) rs143736974 0.00628
NM_006891.4(CRYGD):c.168C>G (p.Tyr56Ter) rs202233735 0.00627
NM_004525.3(LRP2):c.11092G>A (p.Val3698Met) rs34355135 0.00560
NM_033305.3(VPS13A):c.4760A>G (p.Tyr1587Cys) rs149840356 0.00532
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) rs6445 0.00530
NM_005609.4(PYGM):c.645G>A (p.Lys215=) rs116315896 0.00530
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_000110.4(DPYD):c.1905+1G>A rs3918290 0.00474
NM_130839.5(UBE3A):c.2124+9T>C rs79328837 0.00454
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu) rs143759519 0.00440
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_000435.3(NOTCH3):c.3704A>T (p.His1235Leu) rs55882518 0.00433
NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg) rs141287105 0.00406
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr) rs36027220 0.00400
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp) rs61749249 0.00399
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_001625.4(AK2):c.386G>A (p.Ser129Asn) rs61750965 0.00379
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_052854.4(CREB3L1):c.599A>T (p.Asp200Val) rs187725533 0.00364
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly) rs139548132 0.00360
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701 0.00350
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
NM_000334.4(SCN4A):c.1796A>G (p.His599Arg) rs187401185 0.00343
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167 0.00338
NM_006612.6(KIF1C):c.2099C>T (p.Pro700Leu) rs148934699 0.00336
NM_007315.4(STAT1):c.633+6T>A rs45459703 0.00335
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_000781.3(CYP11A1):c.235G>A (p.Val79Ile) rs143655263 0.00303
NM_024537.4(CARS2):c.1632C>A (p.Ser544Arg) rs141184379 0.00297
NM_000128.4(F11):c.1304+12G>A rs116667976 0.00295
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00294
NM_001370466.1(NOD2):c.485C>T (p.Thr162Met) rs61755182 0.00291
NM_001113378.2(FANCI):c.1573A>G (p.Met525Val) rs144908351 0.00282
NM_017739.4(POMGNT1):c.1298C>T (p.Thr433Met) rs146097254 0.00280
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp) rs141090143 0.00278
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365 0.00275
NM_181078.3(IL21R):c.1033G>A (p.Gly345Ser) rs56148525 0.00271
NM_006949.4(STXBP2):c.49G>A (p.Gly17Arg) rs146165014 0.00270
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_004252.5(NHERF1):c.458G>A (p.Arg153Gln) rs41282065 0.00267
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn) rs140806722 0.00262
NM_000433.4(NCF2):c.563G>A (p.Arg188Lys) rs115365142 0.00260
NM_033305.3(VPS13A):c.775A>G (p.Asn259Asp) rs41307461 0.00255
NM_014339.7(IL17RA):c.1174G>T (p.Val392Leu) rs146478431 0.00249
NM_000153.4(GALC):c.997G>A (p.Gly333Arg) rs190921137 0.00248
NM_002016.2(FLG):c.9947C>G (p.Ser3316Ter) rs149484917 0.00246
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617 0.00244
NM_000318.3(PEX2):c.209A>G (p.Tyr70Cys) rs35689779 0.00239
NM_006904.7(PRKDC):c.422C>G (p.Ser141Cys) rs201231274 0.00239
NM_020361.5(CPA6):c.799G>A (p.Gly267Arg) rs61738009 0.00239
NM_001164508.2(NEB):c.9155G>A (p.Arg3052Gln) rs201176993 0.00238
NM_006904.7(PRKDC):c.5120T>A (p.Leu1707Gln) rs202110076 0.00235
NM_153603.4(COG7):c.1178A>G (p.His393Arg) rs116331296 0.00233
NM_001363.4(DKC1):c.-142C>G rs199422241 0.00229
NM_147686.4(TRAF3IP2):c.232C>G (p.Arg78Gly) rs73764462 0.00229
NM_001127178.3(PIGG):c.422C>T (p.Ala141Val) rs116772777 0.00227
NM_001364905.1(LRBA):c.1399A>G (p.Met467Val) rs116355217 0.00225
NM_030662.4(MAP2K2):c.1162C>T (p.Arg388Trp) rs144383241 0.00222
NM_020745.4(AARS2):c.1162C>T (p.Pro388Ser) rs139372744 0.00220
NM_000135.4(FANCA):c.3514-4A>G rs149388130 0.00219
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=) rs137932254 0.00215
NM_024884.3(L2HGDH):c.408+14T>C rs77736285 0.00215
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_001854.4(COL11A1):c.3384+13T>G rs201970483 0.00210
NM_004946.3(DOCK2):c.1360G>A (p.Ala454Thr) rs114888195 0.00210
NM_002206.3(ITGA7):c.2958+16G>A rs200586885 0.00207
NM_000204.5(CFI):c.1642G>C (p.Glu548Gln) rs7437875 0.00206
NM_001364905.1(LRBA):c.194T>C (p.Ile65Thr) rs148385798 0.00205
NM_182746.3(MCM4):c.1406G>C (p.Ser469Thr) rs117063344 0.00202
NM_014855.3(AP5Z1):c.481G>A (p.Val161Met) rs191971593 0.00201
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007 0.00200
NM_005908.4(MANBA):c.2180C>T (p.Ser727Phe) rs147437033 0.00195
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg) rs117225135 0.00190
NM_001127178.3(PIGG):c.724G>A (p.Val242Met) rs144411585 0.00187
NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys) rs139998038 0.00187
NM_003114.5(SPAG1):c.2714C>T (p.Ser905Leu) rs142031266 0.00181
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00181
NM_001164508.2(NEB):c.22800+9A>G rs144303545 0.00177
NM_001164508.2(NEB):c.23477A>G (p.Asn7826Ser) rs143602832 0.00177
NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met) rs142433309 0.00177
NM_019892.6(INPP5E):c.623C>T (p.Thr208Ile) rs143107549 0.00177
NM_000135.4(FANCA):c.4303G>A (p.Ala1435Thr) rs74977201 0.00176
NM_021957.4(GYS2):c.1553A>C (p.Glu518Ala) rs150433001 0.00173
NM_182961.4(SYNE1):c.4107T>A (p.Phe1369Leu) rs149109801 0.00172
NM_016327.3(UPB1):c.917-1G>A rs143493067 0.00169
NM_021098.3(CACNA1H):c.2626G>A (p.Ala876Thr) rs58173258 0.00169
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_014679.5(CEP57):c.677G>A (p.Arg226His) rs143711180 0.00168
NM_001142800.2(EYS):c.6119T>A (p.Val2040Asp) rs201580493 0.00166
NM_178138.6(LHX3):c.252-4G>T rs372058376 0.00165
NM_000018.4(ACADVL):c.1678+23C>T rs147546456 0.00163
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) rs149617956 0.00160
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu) rs138213197 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00159
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00156
NM_000553.6(WRN):c.355+4G>C rs145764920 0.00156
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro) rs76723693 0.00154
NM_000294.3(PHKG2):c.393G>A (p.Arg131=) rs55751949 0.00153
NM_001330078.2(NRXN1):c.772+1078A>G rs144049982 0.00153
NM_004646.4(NPHS1):c.2398C>T (p.Arg800Cys) rs114896482 0.00151
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616 0.00150
NM_000199.5(SGSH):c.752G>C (p.Gly251Ala) rs144461610 0.00148
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu) rs147231991 0.00146
NM_007074.4(CORO1A):c.1189G>A (p.Val397Ile) rs35967690 0.00146
NM_005502.4(ABCA1):c.3542C>T (p.Ser1181Phe) rs76881554 0.00145
NM_003060.4(SLC22A5):c.-149G>A rs57262206 0.00144
NM_005732.4(RAD50):c.943G>T (p.Val315Leu) rs28903090 0.00141
NM_006567.5(FARS2):c.506A>T (p.Asp169Val) rs146356199 0.00141
NM_014244.5(ADAMTS2):c.139+4G>A rs1023653032 0.00140
NM_014844.5(TECPR2):c.623C>T (p.Thr208Ile) rs144870163 0.00140
NM_000043.6(FAS):c.580G>A (p.Glu194Lys) rs56006128 0.00138
NM_001164508.2(NEB):c.3623T>C (p.Ile1208Thr) rs201141958 0.00137
NM_001289104.2(PRKCSH):c.416G>A (p.Arg139His) rs139991238 0.00137
NM_001370466.1(NOD2):c.2291G>A (p.Arg764Gln) rs104895464 0.00137
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709 0.00137
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_005726.6(TSFM):c.856C>T (p.Gln286Ter) rs201754030 0.00136
NM_000081.4(LYST):c.4337G>A (p.Arg1446Gln) rs111722949 0.00135
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00134
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys) rs150343959 0.00133
NM_001625.4(AK2):c.49C>G (p.Arg17Gly) rs138577419 0.00133
NM_212552.3(BOLA3):c.258+9A>C rs201380456 0.00133
NM_000290.4(PGAM2):c.310G>A (p.Ala104Thr) rs150570281 0.00132
NM_000553.6(WRN):c.3875C>A (p.Ser1292Tyr) rs142614369 0.00132
NM_000553.6(WRN):c.2937T>G (p.Ile979Met) rs147802438 0.00131
NM_001041.4(SI):c.1730T>G (p.Val577Gly) rs121912615 0.00131
NM_001006658.3(CR2):c.2903-3C>A rs372214909 0.00128
NM_152268.4(PARS2):c.1091C>G (p.Pro364Arg) rs35201073 0.00128
NM_000051.4(ATM):c.6176C>T (p.Thr2059Ile) rs144761622 0.00126
NM_001783.4(CD79A):c.419C>A (p.Thr140Asn) rs148797987 0.00126
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) rs79204362 0.00125
NM_001080483.3(MYMK):c.271C>A (p.Pro91Thr) rs137868995 0.00125
NM_002185.5(IL7R):c.339A>C (p.Glu113Asp) rs11567735 0.00125
NM_015506.3(MMACHC):c.332G>A (p.Arg111Gln) rs200300254 0.00123
NM_213607.3(CCDC103):c.461A>C (p.His154Pro) rs145457535 0.00123
NM_001127178.3(PIGG):c.998G>A (p.Ser333Asn) rs185712951 0.00122
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu) rs35993949 0.00121
NM_130839.5(UBE3A):c.618A>T (p.Ala206=) rs143484751 0.00121
NM_152383.5(DIS3L2):c.878C>A (p.Pro293His) rs187563594 0.00121
NM_000048.4(ASL):c.35G>A (p.Arg12Gln) rs145138923 0.00120
NM_001379081.2(FREM1):c.4442+3G>A rs181859461 0.00119
NM_001364905.1(LRBA):c.5754+15T>C rs112952572 0.00118
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00117
NM_130839.5(UBE3A):c.1269C>T (p.Asp423=) rs149506027 0.00117
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys) rs72648958 0.00116
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411 0.00116
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg) rs142609245 0.00116
NM_013352.4(DSE):c.1961G>A (p.Arg654Gln) rs61741781 0.00116
NM_018076.5(ODAD2):c.3086C>T (p.Ser1029Phe) rs138588942 0.00116
NM_006612.6(KIF1C):c.2734C>T (p.Arg912Trp) rs202232792 0.00115
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_020070.4(IGLL1):c.334G>A (p.Ala112Thr) rs149986237 0.00115
NM_032444.4(SLX4):c.590T>C (p.Val197Ala) rs147826749 0.00115
NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg) rs150367385 0.00114
NM_001673.5(ASNS):c.1364C>T (p.Ser455Phe) rs61733327 0.00114
NM_003060.4(SLC22A5):c.1345T>G (p.Tyr449Asp) rs11568514 0.00114
NM_032444.4(SLX4):c.3676C>T (p.Arg1226Trp) rs142008398 0.00114
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg) rs28997570 0.00113
NM_001384474.1(LOXHD1):c.4217C>T (p.Ala1406Val) rs146739496 0.00111
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His) rs143024324 0.00111
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp) rs201043950 0.00110
NM_004130.4(GYG1):c.304G>C (p.Asp102His) rs143137713 0.00109
NM_018972.4(GDAP1):c.310+6del rs780828430 0.00109
NM_000492.4(CFTR):c.2620-26A>G rs201716473 0.00108
NM_198586.3(NHLRC1):c.46A>G (p.Met16Val) rs146636139 0.00108
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750 0.00107
NM_024514.5(CYP2R1):c.296T>C (p.Leu99Pro) rs61495246 0.00107
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) rs104893915 0.00106
NM_182961.4(SYNE1):c.6339T>C (p.Thr2113=) rs141671123 0.00106
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519 0.00105
NM_004629.2(FANCG):c.739C>A (p.Gln247Lys) rs145613634 0.00103
NM_024079.5(ALG8):c.1211C>T (p.Ser404Leu) rs146603801 0.00103
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057 0.00102
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027 0.00101
NM_000251.3(MSH2):c.942+2T>A rs587779195 0.00101
NM_182961.4(SYNE1):c.14452T>A (p.Tyr4818Asn) rs142422990 0.00101
NM_021922.3(FANCE):c.284A>G (p.Gln95Arg) rs149097636 0.00098
NM_144508.5(KNL1):c.6482A>G (p.Asp2161Gly) rs142872154 0.00097
NM_002454.3(MTRR):c.869T>C (p.Ile290Thr) rs144899305 0.00096
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_130839.5(UBE3A):c.1767C>T (p.Tyr589=) rs139082033 0.00096
NM_001371986.1(UNC80):c.9760C>A (p.Gln3254Lys) rs189916631 0.00095
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690 0.00094
NM_024537.4(CARS2):c.302G>A (p.Arg101Gln) rs112070421 0.00094
NM_002857.4(PEX19):c.16G>A (p.Glu6Lys) rs145845197 0.00093
NM_003114.5(SPAG1):c.413T>C (p.Leu138Pro) rs141605537 0.00093
NM_002281.4(KRT81):c.846T>A (p.Tyr282Ter) rs138597671 0.00092
NM_030773.4(TUBB1):c.326G>A (p.Gly109Glu) rs41303899 0.00092
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152 0.00092
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441 0.00091
NM_002591.4(PCK1):c.7C>T (p.Pro3Ser) rs147120329 0.00091
NM_004304.5(ALK):c.4796C>A (p.Pro1599His) rs1881423 0.00091
NM_000026.4(ADSL):c.895A>G (p.Met299Val) rs34396910 0.00090
NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter) rs74315329 0.00089
NM_006785.4(MALT1):c.649+9C>T rs200919386 0.00088
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp) rs142572218 0.00088
NM_001366722.1(GRIP1):c.160G>A (p.Val54Ile) rs199768740 0.00087
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val) rs61745150 0.00086
NM_020549.5(CHAT):c.665G>C (p.Arg222Pro) rs8178989 0.00086
NM_000553.6(WRN):c.720T>G (p.Asn240Lys) rs148229804 0.00085
NM_201548.5(CERKL):c.375C>G (p.Cys125Trp) rs200711686 0.00084
NM_000135.4(FANCA):c.3524C>T (p.Pro1175Leu) rs147017625 0.00083
NM_012472.6(DNAAF11):c.232A>G (p.Ile78Val) rs146175329 0.00083
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser) rs142269885 0.00083
NM_138387.4(G6PC3):c.566G>A (p.Arg189Gln) rs140294222 0.00083
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770 0.00081
NM_000254.3(MTR):c.1862A>G (p.Asp621Gly) rs61736440 0.00081
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
NM_024989.4(PGAP1):c.2287G>A (p.Val763Ile) rs143960563 0.00081
NM_152393.4(KLHL40):c.1273G>A (p.Gly425Ser) rs138791086 0.00081
NM_199242.3(UNC13D):c.610A>G (p.Met204Val) rs144722609 0.00081
NM_000203.5(IDUA):c.701G>C (p.Ser234Thr) rs201826605 0.00080
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414 0.00080
NM_000433.4(NCF2):c.938C>T (p.Pro313Leu) rs137937390 0.00078
NM_001360.3(DHCR7):c.1012G>A (p.Val338Met) rs72954276 0.00078
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) rs181255269 0.00078
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00077
NM_001211.6(BUB1B):c.3094A>C (p.Asn1032His) rs34700927 0.00077
NM_016824.5(ADD3):c.995A>G (p.Asn332Ser) rs41291894 0.00076
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531 0.00075
NM_152743.4(BRAT1):c.2147C>T (p.Ala716Val) rs140802292 0.00075
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678 0.00074
NM_000016.6(ACADM):c.199T>C (p.Tyr67His) rs121434280 0.00073
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His) rs137932199 0.00073
NM_001127178.3(PIGG):c.1515G>A (p.Trp505Ter) rs150259543 0.00073
NM_018389.5(SLC35C1):c.748G>A (p.Gly250Arg) rs148606857 0.00073
NM_000251.3(MSH2):c.942+3A>T rs193922376 0.00072
NM_000402.4(G6PD):c.934G>C (p.Asp312His) rs137852318 0.00072
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00072
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu) rs2235006 0.00071
NM_000543.5(SMPD1):c.689G>A (p.Arg230His) rs141387770 0.00071
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys) rs150487794 0.00071
NM_023936.2(MRPS34):c.94C>T (p.Gln32Ter) rs763672163 0.00071
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008 0.00070
NM_004260.4(RECQL4):c.1868G>A (p.Arg623His) rs201734382 0.00070
NM_005797.4(MPZL2):c.72del (p.Ile24fs) rs752672077 0.00069
NM_012073.5(CCT5):c.166+8del rs773556943 0.00069
NM_014339.7(IL17RA):c.1232C>T (p.Ala411Val) rs151166583 0.00069
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr) rs199504211 0.00069
NM_000443.4(ABCB4):c.696C>T (p.Ala232=) rs8187791 0.00068
NM_005787.6(ALG3):c.1084G>A (p.Val362Ile) rs186946267 0.00068
NM_152564.5(VPS13B):c.1559A>G (p.His520Arg) rs143205296 0.00068
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529 0.00067
NM_015971.4(MRPS7):c.550A>G (p.Met184Val) rs115047866 0.00067
NM_024513.4(FYCO1):c.4151C>G (p.Ala1384Gly) rs149783680 0.00067
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu) rs150334966 0.00066
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser) rs201652272 0.00066
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser) rs139203363 0.00066
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_004006.3(DMD):c.4233+2C>T rs147474070 0.00066
NM_004722.4(AP4M1):c.333A>C (p.Glu111Asp) rs138437966 0.00066
NM_021067.5(GINS1):c.247C>T (p.Arg83Cys) rs137901350 0.00066
NM_198076.6(COX20):c.157+3G>C rs367956888 0.00066
NM_000466.3(PEX1):c.3373A>T (p.Met1125Leu) rs142994610 0.00065
NM_001605.3(AARS1):c.2580G>A (p.Leu860=) rs145581652 0.00065
NM_013339.4(ALG6):c.257+5G>A rs199682486 0.00065
NM_000026.4(ADSL):c.403-4G>A rs373652667 0.00064
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415 0.00064
NM_000642.3(AGL):c.334A>G (p.Ile112Val) rs147024351 0.00064
NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter) rs143994166 0.00064
NM_001330078.2(NRXN1):c.2533C>T (p.His845Tyr) rs199784139 0.00064
NM_007126.5(VCP):c.1584C>T (p.Ala528=) rs147623367 0.00064
NM_018127.7(ELAC2):c.2342G>A (p.Arg781His) rs119484086 0.00064
NM_018714.3(COG1):c.1282-3T>C rs188853520 0.00064
NM_021942.6(TRAPPC11):c.2147C>G (p.Ala716Gly) rs143990563 0.00064
NM_001086521.2(NDUFAF8):c.195+271C>T rs745332456 0.00063
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) rs145843073 0.00063
NM_001330078.2(NRXN1):c.1945A>G (p.Ile649Val) rs200074974 0.00062
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331 0.00062
NM_000159.4(GCDH):c.1261G>A (p.Ala421Thr) rs151201155 0.00061
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter) rs549794342 0.00061
NM_014049.5(ACAD9):c.1022T>C (p.Leu341Ser) rs141874052 0.00061
NM_018062.4(FANCL):c.203G>C (p.Arg68Pro) rs143819820 0.00061
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser) rs386834233 0.00061
NM_001271938.2(MEGF8):c.3154T>C (p.Trp1052Arg) rs202039332 0.00060
NM_001609.4(ACADSB):c.443C>T (p.Thr148Ile) rs58639322 0.00060
NM_198578.4(LRRK2):c.5606T>C (p.Met1869Thr) rs35602796 0.00060
NM_001006658.3(CR2):c.1676G>A (p.Gly559Glu) rs143614333 0.00058
NM_001481.3(GAS8):c.841G>C (p.Asp281His) rs139167960 0.00058
NM_001492.6(GDF1):c.681C>A (p.Cys227Ter) rs121434422 0.00058
NM_000153.4(GALC):c.349A>G (p.Met117Val) rs145580093 0.00057
NM_001040716.2(PC):c.3107G>A (p.Arg1036His) rs141237842 0.00057
NM_004064.5(CDKN1B):c.356T>C (p.Ile119Thr) rs142833529 0.00057
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260 0.00057
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly) rs148725540 0.00056
NM_000355.4(TCN2):c.784G>C (p.Glu262Gln) rs61743653 0.00056
NM_004946.3(DOCK2):c.2939T>C (p.Ile980Thr) rs148694888 0.00056
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser) rs149017703 0.00056
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) rs143319805 0.00056
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg) rs141103838 0.00056
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_000027.4(AGA):c.488G>C (p.Cys163Ser) rs121964904 0.00055
NM_000135.4(FANCA):c.2658G>C (p.Glu886Asp) rs139002130 0.00055
NM_003977.4(AIP):c.807C>T (p.Phe269=) rs139407567 0.00055
NM_006295.3(VARS1):c.3650G>A (p.Arg1217His) rs368075745 0.00055
NM_020320.5(RARS2):c.442A>G (p.Thr148Ala) rs143389605 0.00055
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_000214.3(JAG1):c.133G>T (p.Val45Leu) rs183974372 0.00054
NM_000275.3(OCA2):c.1255C>T (p.Arg419Trp) rs143218168 0.00054
NM_000342.3(SLC4A1):c.980C>G (p.Pro327Arg) rs28931583 0.00054
NM_001164508.2(NEB):c.20654C>T (p.Ala6885Val) rs202209668 0.00054
NM_001556.3(IKBKB):c.887C>T (p.Pro296Leu) rs186203343 0.00054
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln) rs74315342 0.00054
NM_017570.5(OPLAH):c.1372G>A (p.Val458Met) rs144920839 0.00054
NM_130839.5(UBE3A):c.1404A>G (p.Thr468=) rs150331504 0.00054
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941 0.00053
NM_000070.3(CAPN3):c.2380+19C>T rs141234995 0.00053
NM_000391.4(TPP1):c.509-1G>C rs56144125 0.00053
NM_017668.3(NDE1):c.872C>T (p.Ser291Phe) rs146284370 0.00053
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921 0.00052
NM_007126.5(VCP):c.*4G>T rs201091341 0.00052
NM_024079.5(ALG8):c.478+1G>A rs139832787 0.00052
NM_000016.6(ACADM):c.600-18G>A rs370523609 0.00051
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys) rs61754388 0.00051
NM_199242.3(UNC13D):c.2553+5C>G rs201930023 0.00051
NM_001164508.2(NEB):c.23524C>T (p.Arg7842Cys) rs184516994 0.00050
NM_001369369.1(FOXN1):c.1184C>T (p.Pro395Leu) rs199739943 0.00050
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747 0.00049
NM_032444.4(SLX4):c.2975G>A (p.Gly992Glu) rs139287784 0.00049
NM_000402.4(G6PD):c.632A>T (p.Asp211Val) rs5030872 0.00048
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp) rs143671872 0.00047
NM_002485.5(NBN):c.628G>T (p.Val210Phe) rs61754796 0.00047
NM_003238.6(TGFB2):c.356C>T (p.Pro119Leu) rs149533093 0.00047
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661 0.00047
NM_145199.3(LIPT1):c.875C>G (p.Ser292Ter) rs137891647 0.00047
NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu) rs72554665 0.00046
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00046
NM_001130987.2(DYSF):c.2697+1G>A rs140108514 0.00046
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_007294.4(BRCA1):c.2566T>C (p.Tyr856His) rs80356892 0.00046
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_001267550.2(TTN):c.100400T>G (p.Val33467Gly) rs200166942 0.00045
NM_001379659.1(ZNF142):c.25C>T (p.Gln9Ter) rs200699349 0.00045
NM_020549.5(CHAT):c.605T>G (p.Met202Arg) rs376808313 0.00045
NM_020320.5(RARS2):c.773G>A (p.Arg258His) rs145297855 0.00044
NM_020708.5(SLC12A5):c.887G>A (p.Arg296His) rs114371269 0.00044
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) rs200179145 0.00044
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp) rs121918170 0.00043
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr) rs201082652 0.00043
NM_021922.3(FANCE):c.1333C>T (p.Pro445Ser) rs141551053 0.00043
NM_139027.6(ADAMTS13):c.559G>C (p.Asp187His) rs148312697 0.00043
NM_000135.4(FANCA):c.437C>G (p.Ser146Cys) rs141367100 0.00042
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser) rs190521996 0.00042
NM_001267550.2(TTN):c.39044-9T>A rs184888200 0.00042
NM_001370658.1(BTD):c.68A>G (p.His23Arg) rs146011150 0.00042
NM_005732.4(RAD50):c.687del (p.Ser229fs) rs760146707 0.00042
NM_014049.5(ACAD9):c.1405C>T (p.Arg469Trp) rs139145143 0.00042
NM_016953.4(PDE11A):c.985C>T (p.Arg329Ter) rs188985665 0.00042
NM_025150.5(TARS2):c.773C>T (p.Ser258Leu) rs145039072 0.00042
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) rs121907998 0.00041
NM_000088.4(COL1A1):c.1882G>A (p.Ala628Thr) rs113950465 0.00041
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771 0.00041
NM_001267550.2(TTN):c.7523A>G (p.His2508Arg) rs146970027 0.00041
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln) rs77563738 0.00041
NM_001358530.2(MOCS1):c.394C>T (p.Arg132Trp) rs377167949 0.00041
NM_006031.6(PCNT):c.644G>A (p.Cys215Tyr) rs138962786 0.00041
NM_020117.11(LARS1):c.1292T>A (p.Val431Asp) rs150429680 0.00041
NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser) rs55886062 0.00040
NM_001378454.1(ALMS1):c.12004C>T (p.Arg4002Trp) rs200897773 0.00040
NM_001754.5(RUNX1):c.1269C>T (p.Arg423=) rs544247912 0.00040
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp) rs146379816 0.00039
NM_000199.5(SGSH):c.734G>A (p.Arg245His) rs104894635 0.00039
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp) rs121908759 0.00039
NM_001164508.2(NEB):c.5503C>T (p.Arg1835Trp) rs199694315 0.00039
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139 0.00039
NM_002637.4(PHKA1):c.536C>T (p.Ala179Val) rs199608903 0.00039
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) rs121909398 0.00039
NM_000018.4(ACADVL):c.1894C>T (p.Arg632Cys) rs151254520 0.00038
NM_000152.5(GAA):c.752C>T (p.Ser251Leu) rs200856561 0.00038
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter) rs137852700 0.00038
NM_000540.3(RYR1):c.9635A>G (p.Glu3212Gly) rs199738299 0.00038
NM_001848.3(COL6A1):c.2857G>A (p.Ala953Thr) rs150378645 0.00038
NM_003906.5(MCM3AP):c.3814G>A (p.Val1272Met) rs779248881 0.00037
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_002474.3(MYH11):c.5499G>C (p.Glu1833Asp) rs145252402 0.00036
NM_002693.3(POLG):c.131A>G (p.Gln44Arg) rs757120802 0.00036
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) rs77375493 0.00036
NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu) rs564605612 0.00036
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) rs34637584 0.00036
NM_203447.4(DOCK8):c.54-1G>T rs192864327 0.00036
NM_000135.4(FANCA):c.3583C>T (p.Arg1195Trp) rs143642304 0.00035
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro) rs80338848 0.00035
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110 0.00035
NM_001048174.2(MUTYH):c.850-2A>G rs77542170 0.00035
NM_001164508.2(NEB):c.22370G>C (p.Ser7457Thr) rs142454476 0.00035
NM_001164508.2(NEB):c.25463A>G (p.Lys8488Arg) rs201714437 0.00035
NM_000051.4(ATM):c.4402G>A (p.Val1468Ile) rs369903995 0.00034
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175 0.00034
NM_000548.5(TSC2):c.5204T>C (p.Ile1735Thr) rs786203769 0.00034
NM_001114753.3(ENG):c.640G>A (p.Gly214Ser) rs150932144 0.00034
NM_001142800.2(EYS):c.2137+1G>A rs199740930 0.00034
NM_012452.3(TNFRSF13B):c.260T>A (p.Ile87Asn) rs72553877 0.00034
NM_014444.5(TUBGCP4):c.1746G>T (p.Leu582=) rs200092283 0.00034
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266 0.00034
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer) rs747253294 0.00034
NM_000152.5(GAA):c.841C>T (p.Arg281Trp) rs142967546 0.00033
NM_000817.3(GAD1):c.1184+17G>A rs180969459 0.00033
NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val) rs121912714 0.00033
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys) rs201477273 0.00033
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786 0.00032
NM_001127178.3(PIGG):c.2053G>A (p.Gly685Ser) rs200770933 0.00032
NM_001182.5(ALDH7A1):c.203C>A (p.Thr68Asn) rs58528748 0.00032
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873 0.00032
NM_000070.3(CAPN3):c.232C>A (p.Pro78Thr) rs138867099 0.00031
NM_000275.3(OCA2):c.593C>T (p.Pro198Leu) rs183487020 0.00031
NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser) rs61761869 0.00031
NM_000553.6(WRN):c.130C>G (p.Leu44Val) rs139775895 0.00031
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) rs121908096 0.00031
NM_004655.4(AXIN2):c.1685C>T (p.Pro562Leu) rs149764887 0.00031
NM_014363.6(SACS):c.10008A>G (p.Lys3336=) rs148971954 0.00031
NM_014363.6(SACS):c.2580A>G (p.Gln860=) rs41283958 0.00031
NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter) rs201337954 0.00031
NM_000022.4(ADA):c.643G>A (p.Ala215Thr) rs114025668 0.00030
NM_014384.3(ACAD8):c.466G>T (p.Ala156Ser) rs201273972 0.00030
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser) rs121908188 0.00030
NM_024537.4(CARS2):c.563C>T (p.Thr188Met) rs142034206 0.00030
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys) rs80338671 0.00029
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152 0.00029
NM_000372.5(TYR):c.649C>T (p.Arg217Trp) rs63159160 0.00029
NM_014239.4(EIF2B2):c.599G>T (p.Gly200Val) rs113994012 0.00029
NM_014249.4(NR2E3):c.227G>A (p.Arg76Gln) rs104894493 0.00029
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp) rs119103267 0.00029
NM_152443.3(RDH12):c.869T>G (p.Val290Gly) rs61740289 0.00029
NM_152564.5(VPS13B):c.7669G>A (p.Asp2557Asn) rs773242093 0.00029
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala) rs28940279 0.00028
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu) rs144600401 0.00028
NM_003060.4(SLC22A5):c.529A>G (p.Met177Val) rs145068530 0.00028
NM_003738.5(PTCH2):c.2902G>A (p.Val968Ile) rs200873074 0.00028
NM_022168.4(IFIH1):c.2016del (p.Asp673fs) rs773033563 0.00028
NM_024120.5(NDUFAF5):c.327G>C (p.Lys109Asn) rs150613320 0.00028
NM_025150.5(TARS2):c.1354C>T (p.Arg452Trp) rs146503501 0.00028
NM_000441.2(SLC26A4):c.-3-2A>G rs397516411 0.00027
NM_001164508.2(NEB):c.8024A>G (p.Asp2675Gly) rs183354017 0.00027
NM_001953.5(TYMP):c.622G>A (p.Val208Met) rs121913039 0.00027
NM_004304.5(ALK):c.4646G>T (p.Arg1549Ile) rs199646095 0.00027
NM_007194.4(CHEK2):c.663C>G (p.Ile221Met) rs200451612 0.00027
NM_013314.4(BLNK):c.205-15C>T rs199854336 0.00027
NM_000038.6(APC):c.8266A>G (p.Ile2756Val) rs146115809 0.00026
NM_000071.3(CBS):c.1330G>A (p.Asp444Asn) rs28934891 0.00026
NM_000548.5(TSC2):c.5028G>A (p.Leu1676=) rs45475501 0.00026
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027 0.00026
NM_001609.4(ACADSB):c.1159G>A (p.Glu387Lys) rs188094280 0.00026
NM_002528.7(NTHL1):c.835C>T (p.Gln279Ter) rs146347092 0.00026
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_020320.5(RARS2):c.1637C>T (p.Pro546Leu) rs142348911 0.00026
NM_030665.4(RAI1):c.3208G>A (p.Gly1070Arg) rs370633684 0.00026
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser) rs143712760 0.00026
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967 0.00025
NM_000135.4(FANCA):c.2101A>G (p.Lys701Glu) rs56369086 0.00025
NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys) rs142931246 0.00025
NM_001083614.2(EARS2):c.328G>A (p.Gly110Ser) rs201842633 0.00025
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly) rs144078282 0.00025
NM_001918.5(DBT):c.901C>T (p.Arg301Cys) rs185492864 0.00025
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg) rs121908641 0.00025
NM_058216.3(RAD51C):c.922G>T (p.Ala308Ser) rs185057307 0.00025
NM_194248.3(OTOF):c.5098G>C (p.Glu1700Gln) rs199766465 0.00025
NM_000237.3(LPL):c.998G>A (p.Arg333His) rs144466625 0.00024
NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe) rs1800408 0.00024
NM_000481.4(AMT):c.635T>C (p.Val212Ala) rs201141125 0.00024
NM_001040716.2(PC):c.715A>G (p.Ile239Val) rs148805312 0.00024
NM_001126108.2(SLC12A3):c.2856+1G>T rs199974259 0.00024
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu) rs146136265 0.00024
NM_003850.3(SUCLA2):c.49C>G (p.Arg17Gly) rs200124902 0.00024
NM_004260.4(RECQL4):c.2953G>A (p.Val985Met) rs200629599 0.00024
NM_004304.5(ALK):c.3691C>T (p.Arg1231Trp) rs771475772 0.00024
NM_032634.4(PIGO):c.2635G>A (p.Val879Ile) rs139155910 0.00024
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val) rs137852849 0.00024
NM_000275.3(OCA2):c.1211C>T (p.Thr404Met) rs144812594 0.00023
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu) rs121918167 0.00023
NM_000277.3(PAH):c.165T>G (p.Phe55Leu) rs199475598 0.00023
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln) rs149866955 0.00023
NM_003060.4(SLC22A5):c.1643G>A (p.Arg548Lys) rs150775371 0.00023
NM_014159.7(SETD2):c.19C>T (p.Gln7Ter) rs541943893 0.00023
NM_000048.4(ASL):c.299T>C (p.Ile100Thr) rs202142867 0.00022
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00022
NM_001083961.2(WDR62):c.1576G>A (p.Glu526Lys) rs147875659 0.00022
NM_001142800.2(EYS):c.3443+1G>T rs373441420 0.00022
NM_001918.5(DBT):c.670G>T (p.Glu224Ter) rs74103423 0.00022
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_000022.4(ADA):c.986C>T (p.Ala329Val) rs121908715 0.00021
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636 0.00021
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987 0.00021
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp) rs141949212 0.00021
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603 0.00021
NM_000359.3(TGM1):c.944G>T (p.Arg315Leu) rs143473912 0.00021
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro) rs28939086 0.00021
NM_000520.6(HEXA):c.1073+1G>A rs76173977 0.00021
NM_001145860.2(POP1):c.1537C>T (p.Arg513Ter) rs149102421 0.00021
NM_002016.2(FLG):c.94G>T (p.Glu32Ter) rs114733570 0.00021
NM_002435.3(MPI):c.656G>A (p.Arg219Gln) rs104894489 0.00021
NM_014679.5(CEP57):c.95C>T (p.Ser32Phe) rs139110744 0.00021
NM_020529.3(NFKBIA):c.337-20G>A rs371120371 0.00021
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu) rs28941773 0.00020
NM_000081.4(LYST):c.10477T>C (p.Phe3493Leu) rs200511787 0.00020
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln) rs63750361 0.00020
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679 0.00020
NM_001876.4(CPT1A):c.1364A>C (p.Lys455Thr) rs189174414 0.00020
NM_003384.3(VRK1):c.961C>T (p.Arg321Cys) rs772731615 0.00020
NM_024339.5(THOC6):c.298T>A (p.Trp100Arg) rs138632121 0.00020
NM_024339.5(THOC6):c.700G>C (p.Val234Leu) rs150940923 0.00020
NM_024339.5(THOC6):c.824G>A (p.Gly275Asp) rs200426926 0.00020
NM_152618.3(BBS12):c.1502C>T (p.Thr501Met) rs138011813 0.00020
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936 0.00019
NM_000135.4(FANCA):c.157A>C (p.Ser53Arg) rs61757383 0.00019
NM_000152.5(GAA):c.2156C>A (p.Ala719Glu) rs146762316 0.00019
NM_000152.5(GAA):c.693-4G>T rs200088236 0.00019
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855 0.00019
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp) rs121434369 0.00019
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe) rs150518260 0.00019
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys) rs61750120 0.00019
NM_000372.5(TYR):c.823G>T (p.Val275Phe) rs104894314 0.00019
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096 0.00019
NM_000628.5(IL10RB):c.215C>T (p.Thr72Met) rs148466782 0.00019
NM_001182.5(ALDH7A1):c.1276A>G (p.Thr426Ala) rs150305320 0.00019
NM_001346754.2(PIGW):c.533C>G (p.Ser178Cys) rs368008171 0.00019
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys) rs200945460 0.00019
NM_004371.4(COPA):c.2234G>A (p.Arg745His) rs138441444 0.00019
NM_005535.3(IL12RB1):c.581-17G>A rs370354493 0.00019
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) rs139366548 0.00019
NM_000053.4(ATP7B):c.3422C>G (p.Pro1141Arg) rs757549770 0.00018
NM_000104.4(CYP1B1):c.1159G>A (p.Glu387Lys) rs55989760 0.00018
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser) rs138577661 0.00018
NM_000159.4(GCDH):c.1213A>G (p.Met405Val) rs141437721 0.00018
NM_000159.4(GCDH):c.572T>C (p.Met191Thr) rs149120354 0.00018
NM_000275.3(OCA2):c.727C>T (p.Arg243Cys) rs138065338 0.00018
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235 0.00018
NM_000441.2(SLC26A4):c.919-2A>G rs111033313 0.00018
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_001005498.4(RHBDF2):c.1531G>A (p.Gly511Ser) rs140196536 0.00018
NM_001126108.2(SLC12A3):c.2549T>C (p.Leu850Pro) rs121909379 0.00018
NM_003060.4(SLC22A5):c.695C>T (p.Thr232Met) rs114269482 0.00018
NM_003924.4(PHOX2B):c.227G>C (p.Ser76Thr) rs532711949 0.00018
NM_004304.5(ALK):c.4200A>C (p.Glu1400Asp) rs143647372 0.00018
NM_005373.3(MPL):c.79+2T>A rs146249964 0.00018
NM_174878.3(CLRN1):c.368C>A (p.Ala123Asp) rs374963432 0.00018
NM_000016.6(ACADM):c.797A>G (p.Asp266Gly) rs201375579 0.00017
NM_000038.6(APC):c.7193C>T (p.Ser2398Phe) rs150882838 0.00017
NM_000104.4(CYP1B1):c.182G>A (p.Gly61Glu) rs28936700 0.00017
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln) rs141498002 0.00017
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe) rs145254330 0.00017
NM_001001548.3(CD36):c.1079T>G (p.Leu360Ter) rs56381858 0.00017
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_006767.4(LZTR1):c.264-13G>A rs587777176 0.00017
NM_007294.3(BRCA1):c.-125C>T rs148196794 0.00017
NM_015506.3(MMACHC):c.617G>A (p.Arg206Gln) rs371753672 0.00017
NM_016222.4(DDX41):c.490C>T (p.Arg164Trp) rs142143752 0.00017
NM_058216.3(RAD51C):c.890T>C (p.Leu297Pro) rs143026267 0.00017
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851 0.00017
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp) rs201199629 0.00016
NM_000057.4(BLM):c.3751+10C>T rs199685140 0.00016
NM_000135.4(FANCA):c.116G>A (p.Arg39Lys) rs151089298 0.00016
NM_000157.4(GBA1):c.882T>G (p.His294Gln) rs367968666 0.00016
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys) rs104894423 0.00016
NM_000275.3(OCA2):c.1239+5G>C rs757119713 0.00016
NM_000466.3(PEX1):c.627G>A (p.Met209Ile) rs200752969 0.00016
NM_000478.6(ALPL):c.526G>A (p.Ala176Thr) rs121918019 0.00016
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys) rs80034486 0.00016
NM_000492.4(CFTR):c.489+3A>G rs377729736 0.00016
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met) rs200165598 0.00016
NM_001164508.2(NEB):c.7309C>T (p.Arg2437Trp) rs375164626 0.00016
NM_001242896.3(DEPDC5):c.3311C>T (p.Ser1104Leu) rs79027628 0.00016
NM_001256545.2(MEGF10):c.2176G>A (p.Ala726Thr) rs139884665 0.00016
NM_001361.5(DHODH):c.1036C>T (p.Arg346Trp) rs201947120 0.00016
NM_001756.4(SERPINA6):c.1165G>A (p.Asp389Asn) rs28929488 0.00016
NM_002691.4(POLD1):c.2185G>A (p.Glu729Lys) rs200931999 0.00016
NM_005591.4(MRE11):c.1643T>C (p.Ile548Thr) rs373522639 0.00016
NM_005912.3(MC4R):c.508A>G (p.Ile170Val) rs121913560 0.00016
NM_006231.4(POLE):c.154C>T (p.Arg52Trp) rs115452881 0.00016
NM_006231.4(POLE):c.3245G>A (p.Arg1082His) rs201744227 0.00016
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys) rs121908702 0.00016
NM_014384.3(ACAD8):c.1129G>A (p.Gly377Ser) rs121908419 0.00016
NM_024105.4(ALG12):c.437G>A (p.Arg146Gln) rs121907932 0.00016
NM_145059.3(FCSK):c.2047C>T (p.Arg683Cys) rs755169246 0.00016
NM_000049.4(ASPA):c.212G>A (p.Arg71His) rs104894553 0.00015
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp) rs141656719 0.00015
NM_000070.3(CAPN3):c.338T>C (p.Ile113Thr) rs747026964 0.00015
NM_000135.4(FANCA):c.4015C>T (p.Leu1339Phe) rs149775657 0.00015
NM_000251.3(MSH2):c.2537A>G (p.Gln846Arg) rs140754514 0.00015
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser) rs121907954 0.00015
NM_004453.4(ETFDH):c.1531G>A (p.Asp511Asn) rs780768015 0.00015
NM_022132.5(MCCC2):c.1423G>A (p.Gly475Arg) rs148773718 0.00015
NM_183050.4(BCKDHB):c.853C>T (p.Arg285Ter) rs398124598 0.00015
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln) rs398123084 0.00014
NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg) rs200788251 0.00014
NM_000023.4(SGCA):c.292C>T (p.Arg98Cys) rs138945081 0.00014
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn) rs199821556 0.00014
NM_000059.4(BRCA2):c.742G>A (p.Ala248Thr) rs55854959 0.00014
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924 0.00014
NM_000159.4(GCDH):c.1198G>A (p.Val400Met) rs121434372 0.00014
NM_000251.3(MSH2):c.766G>A (p.Ala256Thr) rs377403073 0.00014
NM_000303.3(PMM2):c.109C>T (p.Gln37Ter) rs764353860 0.00014
NM_000303.3(PMM2):c.442G>A (p.Asp148Asn) rs148032587 0.00014
NM_000497.4(CYP11B1):c.449C>T (p.Ser150Leu) rs142484434 0.00014
NM_000528.4(MAN2B1):c.65G>A (p.Trp22Ter) rs766383135 0.00014
NM_000548.5(TSC2):c.3491C>T (p.Ala1164Val) rs45448801 0.00014
NM_001127178.3(PIGG):c.2552A>C (p.Gln851Pro) rs150802299 0.00014
NM_001164508.2(NEB):c.3211A>C (p.Ile1071Leu) rs35194393 0.00014
NM_001282225.2(ADA2):c.1065C>A (p.Phe355Leu) rs116020027 0.00014
NM_001298.3(CNGA3):c.101+1G>A rs147118493 0.00014
NM_001352514.2(HLCS):c.1843G>C (p.Val615Leu) rs376210604 0.00014
NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg) rs142808899 0.00014
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr) rs181396238 0.00014
NM_002485.5(NBN):c.456G>A (p.Met152Ile) rs201816949 0.00014
NM_002693.3(POLG):c.3436C>T (p.Arg1146Cys) rs2307440 0.00014
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter) rs121918358 0.00014
NM_014049.5(ACAD9):c.1552C>T (p.Arg518Cys) rs150283105 0.00014
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys) rs200094982 0.00014
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile) rs34647222 0.00014
NM_022132.5(MCCC2):c.295G>C (p.Glu99Gln) rs119103219 0.00014
NM_024339.5(THOC6):c.569G>A (p.Gly190Glu) rs199795381 0.00014
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp) rs28941784 0.00014
NM_058216.3(RAD51C):c.784T>G (p.Leu262Val) rs149331537 0.00014
NM_152564.5(VPS13B):c.934A>G (p.Thr312Ala) rs780702951 0.00014
NM_182961.4(SYNE1):c.22783A>G (p.Ile7595Val) rs146320179 0.00014
NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys) rs199840367 0.00014
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg) rs121434274 0.00013
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys) rs137852623 0.00013
NM_000070.3(CAPN3):c.1319G>A (p.Arg440Gln) rs376107921 0.00013
NM_000071.3(CBS):c.146C>T (p.Pro49Leu) rs148865119 0.00013
NM_000088.4(COL1A1):c.1583G>A (p.Arg528His) rs144751329 0.00013
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln) rs755922289 0.00013
NM_000169.3(GLA):c.1088G>A (p.Arg363His) rs111422676 0.00013
NM_000268.4(NF2):c.1439C>T (p.Thr480Met) rs145666157 0.00013
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn) rs137852870 0.00013
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102 0.00013
NM_001001548.3(CD36):c.430-2A>G rs3211901 0.00013
NM_001369369.1(FOXN1):c.497C>T (p.Ala166Val) rs367793349 0.00013
NM_001875.5(CPS1):c.121G>T (p.Val41Phe) rs148708735 0.00013
NM_002225.5(IVD):c.358G>A (p.Gly120Arg) rs142761835 0.00013
NM_003896.4(ST3GAL5):c.1063G>A (p.Glu355Lys) rs534438354 0.00013
NM_004304.5(ALK):c.4795C>T (p.Pro1599Ser) rs373037272 0.00013
NM_004655.4(AXIN2):c.1948C>T (p.Arg650Cys) rs148419444 0.00013
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
NM_016327.3(UPB1):c.209G>C (p.Arg70Pro) rs121908066 0.00013
NM_017909.4(RMND1):c.713A>G (p.Asn238Ser) rs144972972 0.00013
NM_024537.4(CARS2):c.1448T>G (p.Leu483Trp) rs766266851 0.00013
NM_030653.4(DDX11):c.1403dup (p.Ser469fs) rs778363138 0.00013
NM_000053.4(ATP7B):c.347T>C (p.Ile116Thr) rs199773340 0.00012
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter) rs761341952 0.00012
NM_000214.3(JAG1):c.1706C>T (p.Thr569Met) rs368438076 0.00012
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_000402.4(G6PD):c.1478G>A (p.Arg493His) rs72554664 0.00012
NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys) rs80338856 0.00012
NM_003977.4(AIP):c.733G>A (p.Glu245Lys) rs150645662 0.00012
NM_005529.7(HSPG2):c.12884G>A (p.Arg4295Gln) rs537908254 0.00012
NM_005921.2(MAP3K1):c.44C>G (p.Pro15Arg) rs765282250 0.00012
NM_006231.4(POLE):c.1064A>G (p.Lys355Arg) rs141396559 0.00012
NM_014252.4(SLC25A15):c.706A>G (p.Arg236Gly) rs142236568 0.00012
NM_014679.5(CEP57):c.764A>G (p.Asn255Ser) rs768269976 0.00012
NM_000018.4(ACADVL):c.1220G>C (p.Gly407Ala) rs904631654 0.00011
NM_000030.3(AGXT):c.949C>T (p.Arg317Trp) rs774030578 0.00011
NM_000053.4(ATP7B):c.1915C>T (p.His639Tyr) rs200728096 0.00011
NM_000057.4(BLM):c.1315A>G (p.Met439Val) rs201231857 0.00011
NM_000135.4(FANCA):c.3099C>A (p.Asp1033Glu) rs139289675 0.00011
NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys) rs17217723 0.00011
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val) rs372030650 0.00011
NM_000274.4(OAT):c.478G>A (p.Val160Met) rs148433929 0.00011
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln) rs111033205 0.00011
NM_000487.6(ARSA):c.869G>A (p.Arg290His) rs199476355 0.00011
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly) rs116788608 0.00011
NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter) rs12118058 0.00011
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His) rs587778778 0.00011
NM_001024630.4(RUNX2):c.523A>G (p.Met175Val) rs201647225 0.00011
NM_001079866.2(BCS1L):c.205C>T (p.Arg69Cys) rs377025174 0.00011
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu) rs199422209 0.00011
NM_001354930.2(RIPK1):c.1934C>T (p.Thr645Met) rs116040763 0.00011
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser) rs138818907 0.00011
NM_001918.5(DBT):c.827T>G (p.Phe276Cys) rs121964999 0.00011
NM_003482.4(KMT2D):c.5084-17A>G rs368795536 0.00011
NM_003482.4(KMT2D):c.8245G>A (p.Val2749Met) rs376888531 0.00011
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn) rs79783591 0.00011
NM_005956.4(MTHFD1):c.146C>T (p.Ser49Phe) rs370444838 0.00011
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu) rs751459058 0.00011
NM_012275.3(IL36RN):c.227C>T (p.Pro76Leu) rs139497891 0.00011
NM_013275.6(ANKRD11):c.3274C>T (p.Pro1092Ser) rs773172347 0.00011
NM_014625.4(NPHS2):c.779T>A (p.Val260Glu) rs775006954 0.00011
NM_014625.4(NPHS2):c.868G>A (p.Val290Met) rs200482683 0.00011
NM_014874.4(MFN2):c.1987C>T (p.Arg663Cys) rs369762154 0.00011
NM_015910.7(WDPCP):c.160G>A (p.Asp54Asn) rs200322968 0.00011
NM_020166.5(MCCC1):c.1302T>G (p.Ile434Met) rs376289130 0.00011
NM_020549.5(CHAT):c.406G>A (p.Val136Met) rs201479289 0.00011
NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe) rs757052602 0.00011
NM_022436.3(ABCG5):c.1336C>T (p.Arg446Ter) rs199689137 0.00011
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu) rs143031195 0.00011
NM_032444.4(SLX4):c.833G>A (p.Arg278Gln) rs201192909 0.00011
NM_138387.4(G6PC3):c.687C>T (p.Ser229=) rs377343204 0.00011
NM_138694.4(PKHD1):c.6907A>T (p.Ile2303Phe) rs751084512 0.00011
NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys) rs137853197 0.00011
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val) rs77718928 0.00010
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter) rs118204429 0.00010
NM_000053.4(ATP7B):c.3243+5G>A rs373193482 0.00010
NM_000071.3(CBS):c.362G>A (p.Arg121His) rs770095972 0.00010
NM_000071.3(CBS):c.770C>T (p.Thr257Met) rs758236584 0.00010
NM_000154.2(GALK1):c.766C>T (p.Arg256Trp) rs376790302 0.00010
NM_000159.4(GCDH):c.510G>C (p.Lys170Asn) rs200785120 0.00010
NM_000275.3(OCA2):c.1363A>G (p.Arg455Gly) rs200764804 0.00010
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851 0.00010
NM_000286.3(PEX12):c.681-2A>C rs187526749 0.00010
NM_000317.3(PTS):c.317C>T (p.Thr106Met) rs200712908 0.00010
NM_000388.4(CASR):c.73C>T (p.Arg25Ter) rs201633414 0.00010
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327 0.00010
NM_000784.4(CYP27A1):c.379C>T (p.Arg127Trp) rs201114717 0.00010
NM_001098.3(ACO2):c.2135C>T (p.Pro712Leu) rs375761361 0.00010
NM_001164508.2(NEB):c.18859C>T (p.Arg6287Cys) rs374606967 0.00010
NM_001164508.2(NEB):c.7343G>A (p.Arg2448His) rs373589529 0.00010
NM_001385.3(DPYS):c.1468C>T (p.Arg490Cys) rs142574766 0.00010
NM_001953.5(TYMP):c.665A>G (p.Lys222Arg) rs149977726 0.00010
NM_002225.5(IVD):c.707C>T (p.Thr236Ile) rs146861563 0.00010
NM_003060.4(SLC22A5):c.43G>T (p.Gly15Trp) rs267607052 0.00010
NM_004304.5(ALK):c.4028C>T (p.Thr1343Ile) rs753763148 0.00010
NM_005327.7(HADH):c.676T>C (p.Tyr226His) rs146036912 0.00010
NM_006261.5(PROP1):c.349T>A (p.Phe117Ile) rs121917840 0.00010
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter) rs546989392 0.00010
NM_021095.4(SLC5A6):c.1865_1866del (p.Gln622fs) rs774193816 0.00010
NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro) rs138043021 0.00010
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_058216.3(RAD51C):c.431T>C (p.Ile144Thr) rs28363307 0.00010
NM_152443.3(RDH12):c.701G>A (p.Arg234His) rs750636662 0.00010
NM_152564.5(VPS13B):c.6657+1G>A rs180177366 0.00010
NM_176824.3(BBS7):c.968A>G (p.His323Arg) rs119466001 0.00010
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro) rs79761867 0.00010
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr) rs138834083 0.00009
NM_000018.4(ACADVL):c.520G>A (p.Val174Met) rs369560930 0.00009
NM_000022.4(ADA):c.221G>T (p.Gly74Val) rs199422328 0.00009
NM_000022.4(ADA):c.632G>A (p.Arg211His) rs121908716 0.00009
NM_000051.4(ATM):c.133C>T (p.Arg45Trp) rs3218684 0.00009
NM_000051.4(ATM):c.670A>G (p.Lys224Glu) rs145053092 0.00009
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala) rs374094065 0.00009
NM_000053.4(ATP7B):c.3859G>A (p.Gly1287Ser) rs762866453 0.00009
NM_000059.4(BRCA2):c.8215G>A (p.Val2739Ile) rs80359069 0.00009
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter) rs151242354 0.00009
NM_000135.4(FANCA):c.4177G>A (p.Val1393Met) rs199652831 0.00009
NM_000152.5(GAA):c.1979G>A (p.Arg660His) rs374143224 0.00009
NM_000153.4(GALC):c.1586C>T (p.Thr529Met) rs200960659 0.00009
NM_000161.3(GCH1):c.610G>A (p.Val204Ile) rs200891969 0.00009
NM_000222.3(KIT):c.1694G>T (p.Gly565Val) rs200945282 0.00009
NM_000249.3(MLH1):c.-42C>T rs41285097 0.00009
NM_000249.4(MLH1):c.1709A>G (p.Asn570Ser) rs375853155 0.00009
NM_000251.3(MSH2):c.114C>G (p.Asp38Glu) rs587779074 0.00009
NM_000251.3(MSH2):c.97A>C (p.Thr33Pro) rs63751107 0.00009
NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile) rs765779905 0.00009
NM_000277.3(PAH):c.434A>T (p.Asp145Val) rs140175796 0.00009
NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter) rs774130993 0.00009
NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu) rs61750145 0.00009
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu) rs111033309 0.00009
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser) rs375315619 0.00009
NM_000540.3(RYR1):c.15015G>A (p.Thr5005=) rs2229149 0.00009
NM_000709.4(BCKDHA):c.853G>C (p.Ala285Pro) rs398123508 0.00009
NM_000784.4(CYP27A1):c.1184+1G>A rs587778777 0.00009
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) rs140342925 0.00009
NM_001164508.2(NEB):c.23763G>C (p.Leu7921Phe) rs201028196 0.00009
NM_001243279.3(ACSF3):c.1081G>A (p.Gly361Ser) rs145285434 0.00009
NM_001258392.3(CLPB):c.1803G>A (p.Val601=) rs766600801 0.00009
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter) rs373740199 0.00009
NM_001352514.2(HLCS):c.1974dup (p.Val659fs) rs767533946 0.00009
NM_001360.3(DHCR7):c.440G>A (p.Gly147Asp) rs777425801 0.00009
NM_001370658.1(BTD):c.1395C>G (p.His465Gln) rs201604102 0.00009
NM_003060.4(SLC22A5):c.1400C>G (p.Ser467Cys) rs60376624 0.00009
NM_004371.4(COPA):c.778C>T (p.Arg260Cys) rs773636602 0.00009
NM_004380.3(CREBBP):c.2854G>A (p.Val952Met) rs369930675 0.00009
NM_004380.3(CREBBP):c.7184T>C (p.Ile2395Thr) rs759047530 0.00009
NM_005609.4(PYGM):c.1403+5G>A rs373040789 0.00009
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln) rs373190458 0.00009
NM_005609.4(PYGM):c.425-26A>G rs764313717 0.00009
NM_006949.4(STXBP2):c.389T>C (p.Leu130Ser) rs930347206 0.00009
NM_007103.4(NDUFV1):c.1157G>A (p.Arg386His) rs536758576 0.00009
NM_007194.4(CHEK2):c.319+2T>A rs587782401 0.00009
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_015386.3(COG4):c.2251G>A (p.Asp751Asn) rs200083914 0.00009
NM_022124.6(CDH23):c.1282G>A (p.Asp428Asn) rs188376296 0.00009
NM_024407.5(NDUFS7):c.364G>A (p.Val122Met) rs104894705 0.00009
NM_024854.5(PYROXD1):c.285+1G>A rs369083786 0.00009
NM_025243.4(SLC19A3):c.325G>A (p.Val109Ile) rs780569649 0.00009
NM_033419.5(PGAP3):c.558-10G>A rs200598755 0.00009
NM_054012.4(ASS1):c.1003C>T (p.Arg335Cys) rs373514077 0.00009
NM_054012.4(ASS1):c.19G>A (p.Val7Met) rs149938546 0.00009
NM_054012.4(ASS1):c.919C>T (p.Arg307Cys) rs183276875 0.00009
NM_130839.5(UBE3A):c.815A>G (p.Asn272Ser) rs139928148 0.00009
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu) rs201105958 0.00009
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569 0.00009
NM_206933.4(USH2A):c.12332C>T (p.Ser4111Phe) rs142095945 0.00009
NM_206933.4(USH2A):c.2167+5G>A rs771583281 0.00009
NM_000048.4(ASL):c.337C>T (p.Arg113Trp) rs767543051 0.00008
NM_000048.4(ASL):c.571C>T (p.Arg191Trp) rs143508372 0.00008
NM_000053.4(ATP7B):c.2731-2A>G rs367956522 0.00008
NM_000059.4(BRCA2):c.517-4C>G rs81002804 0.00008
NM_000104.4(CYP1B1):c.1169G>A (p.Arg390His) rs56010818 0.00008
NM_000152.5(GAA):c.1194+3G>C rs368539333 0.00008
NM_000152.5(GAA):c.1552-3C>G rs375470378 0.00008
NM_000152.5(GAA):c.533G>A (p.Arg178His) rs762267535 0.00008
NM_000152.5(GAA):c.853C>T (p.Pro285Ser) rs886042086 0.00008
NM_000251.3(MSH2):c.820A>G (p.Ile274Val) rs371944271 0.00008
NM_000274.4(OAT):c.539G>C (p.Arg180Thr) rs121965040 0.00008
NM_000277.3(PAH):c.1045T>C (p.Ser349Pro) rs62508646 0.00008
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly) rs5030856 0.00008
NM_000355.4(TCN2):c.424A>G (p.Ile142Val) rs200771616 0.00008
NM_000370.3(TTPA):c.358G>A (p.Ala120Thr) rs143010236 0.00008
NM_000380.4(XPA):c.731A>G (p.His244Arg) rs144725456 0.00008
NM_000396.4(CTSK):c.953G>A (p.Cys318Tyr) rs762780994 0.00008
NM_000402.4(G6PD):c.185A>G (p.His62Arg) rs137852340 0.00008
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp) rs111033307 0.00008
NM_000465.4(BARD1):c.1339C>G (p.Leu447Val) rs376727038 0.00008
NM_000540.3(RYR1):c.2488C>T (p.Arg830Trp) rs142548565 0.00008
NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp) rs139842473 0.00008
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) rs201540674 0.00008
NM_001609.4(ACADSB):c.621G>A (p.Trp207Ter) rs374420253 0.00008
NM_002528.7(NTHL1):c.526-1G>A rs779757251 0.00008
NM_002691.4(POLD1):c.1574G>A (p.Arg525Gln) rs372190244 0.00008
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro) rs370644567 0.00008
NM_004304.5(ALK):c.3362G>A (p.Gly1121Asp) rs55760835 0.00008
NM_004304.5(ALK):c.875G>A (p.Arg292His) rs149145987 0.00008
NM_013275.6(ANKRD11):c.3953C>G (p.Thr1318Ser) rs570483616 0.00008
NM_019616.4(F7):c.1085C>T (p.Thr362Met) rs531225271 0.00008
NM_020166.5(MCCC1):c.1155A>C (p.Arg385Ser) rs119103213 0.00008
NM_021939.4(FKBP10):c.520G>A (p.Gly174Ser) rs140950528 0.00008
NM_024675.4(PALB2):c.1042C>A (p.Gln348Lys) rs375699023 0.00008
NM_024675.4(PALB2):c.2201C>A (p.Thr734Asn) rs878855107 0.00008
NM_054012.4(ASS1):c.773C>T (p.Ala258Val) rs753078725 0.00008
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) rs369925690 0.00008
NM_152743.4(BRAT1):c.1196G>A (p.Arg399Gln) rs371360176 0.00008
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814 0.00008
NM_207122.2(EXT2):c.1685G>A (p.Arg562Gln) rs140561784 0.00008
NM_000016.6(ACADM):c.250C>T (p.Leu84Phe) rs762114560 0.00007
NM_000016.6(ACADM):c.583G>A (p.Gly195Arg) rs121434278 0.00007
NM_000022.4(ADA):c.320T>C (p.Leu107Pro) rs121908739 0.00007
NM_000046.5(ARSB):c.667A>G (p.Ile223Val) rs367650121 0.00007
NM_000048.4(ASL):c.1153C>T (p.Arg385Cys) rs28940286 0.00007
NM_000051.4(ATM):c.496+4T>C rs587781375 0.00007
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457 0.00007
NM_000152.5(GAA):c.1048G>A (p.Val350Met) rs200412003 0.00007
NM_000154.2(GALK1):c.1036G>A (p.Gly346Ser) rs375690568 0.00007
NM_000159.4(GCDH):c.1147C>T (p.Arg383Cys) rs150938052 0.00007
NM_000249.4(MLH1):c.2038T>G (p.Cys680Gly) rs63750809 0.00007
NM_000277.3(PAH):c.1174T>A (p.Phe392Ile) rs180819807 0.00007
NM_000277.3(PAH):c.204A>T (p.Arg68Ser) rs76394784 0.00007
NM_000282.4(PCCA):c.1284+1G>A rs752761437 0.00007
NM_000383.4(AIRE):c.652+15G>A rs760027964 0.00007
NM_000478.6(ALPL):c.575T>C (p.Met192Thr) rs765011829 0.00007
NM_000518.5(HBB):c.92+6T>C rs35724775 0.00007
NM_000528.4(MAN2B1):c.2046+2T>A rs748712495 0.00007
NM_000733.4(CD3E):c.103+10T>C rs143015515 0.00007
NM_001014.5(RPS10):c.71A>G (p.Lys24Arg) rs201147592 0.00007
NM_001017420.3(ESCO2):c.1132-7A>G rs80359862 0.00007
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr) rs749909863 0.00007
NM_001142800.2(EYS):c.7811G>A (p.Arg2604His) rs368798160 0.00007
NM_001142800.2(EYS):c.881C>G (p.Ser294Ter) rs752683070 0.00007
NM_001378778.1(MPDZ):c.394G>A (p.Gly132Ser) rs201101621 0.00007
NM_001953.5(TYMP):c.433G>A (p.Gly145Arg) rs121913037 0.00007
NM_002225.5(IVD):c.550+1G>A rs377147994 0.00007
NM_002878.4(RAD51D):c.394G>A (p.Val132Ile) rs201141245 0.00007
NM_003060.4(SLC22A5):c.761G>A (p.Arg254Gln) rs200699819 0.00007
NM_004304.5(ALK):c.3182G>A (p.Arg1061Gln) rs72852032 0.00007
NM_004320.6(ATP2A1):c.100G>T (p.Glu34Ter) rs141559558 0.00007
NM_004646.4(NPHS1):c.1868G>T (p.Cys623Phe) rs386833895 0.00007
NM_005591.4(MRE11):c.1714C>T (p.Arg572Ter) rs137852761 0.00007
NM_005591.4(MRE11):c.1960_1979dup (p.Lys661fs) rs587781442 0.00007
NM_005609.4(PYGM):c.1768+1G>A rs771427957 0.00007
NM_006019.4(TCIRG1):c.1213G>A (p.Gly405Arg) rs137853150 0.00007
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp) rs104894178 0.00007
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter) rs189150283 0.00007
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His) rs121908706 0.00007
NM_012203.2(GRHPR):c.139C>T (p.Arg47Ter) rs774654020 0.00007
NM_012434.5(SLC17A5):c.1138_1139del (p.Val380fs) rs386833988 0.00007
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu) rs80338795 0.00007
NM_016222.4(DDX41):c.415_418dup (p.Asp140delinsGlyTer) rs762890562 0.00007
NM_020774.4(MIB1):c.1588C>T (p.Arg530Ter) rs201850378 0.00007
NM_024675.4(PALB2):c.2200A>T (p.Thr734Ser) rs45543843 0.00007
NM_031844.3(HNRNPU):c.1274G>C (p.Gly425Ala) rs199596170 0.00007
NM_032383.5(HPS3):c.2888-1612G>A rs281865096 0.00007
NM_052845.4(MMAB):c.521C>T (p.Ser174Leu) rs140881518 0.00007
NM_054012.4(ASS1):c.535T>C (p.Trp179Arg) rs121908646 0.00007
NM_054012.4(ASS1):c.805G>A (p.Val269Met) rs370595480 0.00007
NM_130839.5(UBE3A):c.2096A>C (p.Lys699Thr) rs202161423 0.00007
NM_145059.3(FCSK):c.667T>C (p.Ser223Pro) rs769009456 0.00007
NM_152443.3(RDH12):c.806C>G (p.Ala269Gly) rs116802390 0.00007
NM_201253.3(CRB1):c.1438T>C (p.Cys480Arg) rs62636264 0.00007
NM_206933.4(USH2A):c.6929C>T (p.Thr2310Met) rs151057466 0.00007
NM_206933.4(USH2A):c.7061G>A (p.Arg2354His) rs201386640 0.00007
NM_000018.4(ACADVL):c.1434G>A (p.Met478Ile) rs775537775 0.00006
NM_000018.4(ACADVL):c.947G>A (p.Arg316Gln) rs147366714 0.00006
NM_000019.4(ACAT1):c.455G>C (p.Gly152Ala) rs762991875 0.00006
NM_000030.3(AGXT):c.167T>A (p.Ile56Asn) rs180177180 0.00006
NM_000030.3(AGXT):c.698G>A (p.Arg233His) rs121908527 0.00006
NM_000038.6(APC):c.2527A>G (p.Ser843Gly) rs536223189 0.00006
NM_000038.6(APC):c.5774C>A (p.Pro1925His) rs762682111 0.00006
NM_000038.6(APC):c.8107A>G (p.Lys2703Glu) rs730881270 0.00006
NM_000049.4(ASPA):c.746A>T (p.Asp249Val) rs104894552 0.00006
NM_000051.4(ATM):c.610G>A (p.Gly204Arg) rs147915571 0.00006
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) rs28904921 0.00006
NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala) rs587783299 0.00006
NM_000053.4(ATP7B):c.2479C>T (p.Arg827Trp) rs539585071 0.00006
NM_000053.4(ATP7B):c.3646G>A (p.Val1216Met) rs776280797 0.00006
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg) rs121907992 0.00006
NM_000057.4(BLM):c.3558+1G>T rs148969222 0.00006
NM_000071.3(CBS):c.572C>T (p.Thr191Met) rs121964973 0.00006
NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys) rs121918528 0.00006
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys) rs121964992 0.00006
NM_000110.4(DPYD):c.220C>T (p.Arg74Ter) rs189768576 0.00006
NM_000110.4(DPYD):c.2579del (p.Gln860fs) rs746991079 0.00006
NM_000124.4(ERCC6):c.2599-26A>G rs4253196 0.00006
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly) rs149277003 0.00006
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=) rs149797103 0.00006
NM_000135.4(FANCA):c.4064A>T (p.His1355Leu) rs145886270 0.00006
NM_000137.4(FAH):c.1009G>A (p.Gly337Ser) rs80338900 0.00006
NM_000137.4(FAH):c.1027G>T (p.Gly343Trp) rs970505762 0.00006
NM_000137.4(FAH):c.782C>T (p.Pro261Leu) rs80338898 0.00006
NM_000152.5(GAA):c.1124G>A (p.Arg375His) rs142752477 0.00006
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu) rs147327209 0.00006
NM_000152.5(GAA):c.266G>A (p.Arg89His) rs200586324 0.00006
NM_000152.5(GAA):c.761C>T (p.Ser254Leu) rs577915581 0.00006
NM_000152.5(GAA):c.953T>C (p.Met318Thr) rs121907936 0.00006
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter) rs137852888 0.00006
NM_000158.4(GBE1):c.785G>A (p.Arg262His) rs369574719 0.00006
NM_000159.4(GCDH):c.1168G>C (p.Gly390Arg) rs372983141 0.00006
NM_000170.3(GLDC):c.2216G>A (p.Arg739His) rs121964980 0.00006
NM_000179.3(MSH6):c.3478G>A (p.Val1160Ile) rs376799914 0.00006
NM_000183.3(HADHB):c.397A>G (p.Thr133Ala) rs371159065 0.00006
NM_000191.3(HMGCL):c.853del (p.Met284_Leu285insTer) rs779339230 0.00006
NM_000271.5(NPC1):c.2862G>A (p.Ser954=) rs373517774 0.00006
NM_000275.3(OCA2):c.2359G>A (p.Ala787Thr) rs142988897 0.00006
NM_000275.3(OCA2):c.632C>T (p.Pro211Leu) rs190612616 0.00006
NM_000282.4(PCCA):c.229C>T (p.Arg77Trp) rs141371306 0.00006
NM_000288.4(PEX7):c.340-10A>G rs267608255 0.00006
NM_000289.6(PFKM):c.237+1G>A rs202143236 0.00006
NM_000303.3(PMM2):c.359T>C (p.Ile120Thr) rs368582085 0.00006
NM_000303.3(PMM2):c.430T>C (p.Phe144Leu) rs150719105 0.00006
NM_000310.4(PPT1):c.541G>A (p.Val181Met) rs148412181 0.00006
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp) rs61752871 0.00006
NM_000359.3(TGM1):c.376C>T (p.Arg126Cys) rs397514524 0.00006
NM_000426.4(LAMA2):c.1300C>T (p.Arg434Ter) rs1374568851 0.00006
NM_000426.4(LAMA2):c.5260del (p.Lys1753_Val1754insTer) rs794727594 0.00006
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) rs111033305 0.00006
NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser) rs111033308 0.00006
NM_000465.4(BARD1):c.1104C>G (p.Cys368Trp) rs371147849 0.00006
NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser) rs121918014 0.00006
NM_000478.6(ALPL):c.407G>A (p.Arg136His) rs121918011 0.00006
NM_000481.4(AMT):c.230C>T (p.Ser77Leu) rs386833680 0.00006
NM_000487.6(ARSA):c.1010A>T (p.Asp337Val) rs74315475 0.00006
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile) rs151048781 0.00006
NM_000497.4(CYP11B1):c.799+5G>C rs193922542 0.00006
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys) rs118204437 0.00006
NM_000520.6(HEXA):c.806-7G>A rs770932296 0.00006
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro) rs80338681 0.00006
NM_000528.4(MAN2B1):c.2782G>C (p.Gly928Arg) rs754733253 0.00006
NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp) rs121964959 0.00006
NM_000543.5(SMPD1):c.1133G>A (p.Arg378His) rs559088058 0.00006
NM_000642.3(AGL):c.4260-12A>G rs369973784 0.00006
NM_001001557.4(GDF6):c.169G>C (p.Asp57His) rs397514725 0.00006
NM_001005498.4(RHBDF2):c.2365G>A (p.Ala789Thr) rs770206566 0.00006
NM_001006658.3(CR2):c.818-4C>T rs370106455 0.00006
NM_001040716.2(PC):c.1892G>A (p.Arg631Gln) rs113994145 0.00006
NM_001048174.2(MUTYH):c.1156C>T (p.Gln386Ter) rs766420907 0.00006
NM_001083116.3(PRF1):c.666C>A (p.His222Gln) rs751247865 0.00006
NM_001098484.3(SLC4A4):c.1297T>C (p.Cys433Arg) rs771339934 0.00006
NM_001134407.3(GRIN2A):c.4170G>A (p.Ser1390=) rs1057522803 0.00006
NM_001142800.2(EYS):c.2620C>T (p.Gln874Ter) rs760798455 0.00006
NM_001142800.2(EYS):c.9392G>C (p.Gly3131Ala) rs772888249 0.00006
NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter) rs137853190 0.00006
NM_001145715.3(KPNA7):c.106C>T (p.Arg36Ter) rs760378316 0.00006
NM_001164508.2(NEB):c.20228G>A (p.Arg6743His) rs755370356 0.00006
NM_001164508.2(NEB):c.7441A>G (p.Arg2481Gly) rs149430473 0.00006
NM_001283009.2(RTEL1):c.3110-2A>T rs377461417 0.00006
NM_001346754.2(PIGW):c.646C>T (p.Arg216Ter) rs147622852 0.00006
NM_001358530.2(MOCS1):c.217C>T (p.Arg73Trp) rs104893970 0.00006
NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala) rs200334114 0.00006
NM_001374828.1(ARID1B):c.1379G>T (p.Gly460Val) rs1274183370 0.00006
NM_001376.5(DYNC1H1):c.7138G>A (p.Ala2380Thr) rs550161377 0.00006
NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu) rs80356779 0.00006
NM_002168.4(IDH2):c.419G>A (p.Arg140Gln) rs121913502 0.00006
NM_002485.5(NBN):c.127C>T (p.Arg43Ter) rs200287925 0.00006
NM_002693.3(POLG):c.3287G>A (p.Arg1096His) rs368435864 0.00006
NM_002693.3(POLG):c.868C>T (p.Arg290Cys) rs753416225 0.00006
NM_003060.4(SLC22A5):c.1193C>T (p.Pro398Leu) rs144547521 0.00006
NM_003072.5(SMARCA4):c.3383-5G>A rs762528243 0.00006
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680 0.00006
NM_003738.5(PTCH2):c.311T>C (p.Leu104Pro) rs80168454 0.00006
NM_003982.4(SLC7A7):c.1417C>T (p.Arg473Ter) rs386833808 0.00006
NM_004064.5(CDKN1B):c.225G>C (p.Glu75Asp) rs139727620 0.00006
NM_004260.4(RECQL4):c.862G>A (p.Gly288Arg) rs199706417 0.00006
NM_004291.4(CARTPT):c.183G>C (p.Leu61Phe) rs121909065 0.00006
NM_004304.5(ALK):c.1184G>A (p.Arg395His) rs769910087 0.00006
NM_004646.4(NPHS1):c.2227C>T (p.Arg743Cys) rs386833909 0.00006
NM_005055.5(RAPSN):c.133G>A (p.Val45Met) rs121909254 0.00006
NM_005419.4(STAT2):c.903C>T (p.Asn301=) rs145152331 0.00006
NM_005609.4(PYGM):c.2056G>A (p.Gly686Arg) rs144081869 0.00006
NM_006019.4(TCIRG1):c.1331G>T (p.Arg444Leu) rs137853151 0.00006
NM_006767.4(LZTR1):c.1396C>T (p.Arg466Trp) rs550922200 0.00006
NM_006767.4(LZTR1):c.1397G>A (p.Arg466Gln) rs587777180 0.00006
NM_006767.4(LZTR1):c.2062C>T (p.Arg688Cys) rs587777178 0.00006
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu) rs587780180 0.00006
NM_012203.2(GRHPR):c.734+1G>A rs148049120 0.00006
NM_012434.5(SLC17A5):c.533del (p.Thr178fs) rs727504156 0.00006
NM_012452.3(TNFRSF13B):c.492C>G (p.Tyr164Ter) rs72553882 0.00006
NM_012452.3(TNFRSF13B):c.593G>A (p.Arg198His) rs150974807 0.00006
NM_013339.4(ALG6):c.338G>A (p.Arg113His) rs768372697 0.00006
NM_014252.4(SLC25A15):c.823C>T (p.Arg275Ter) rs202247807 0.00006
NM_014915.3(ANKRD26):c.4636G>C (p.Asp1546His) rs753924410 0.00006
NM_015166.4(MLC1):c.274C>T (p.Pro92Ser) rs121908345 0.00006
NM_015506.3(MMACHC):c.688C>T (p.Arg230Ter) rs201183360 0.00006
NM_016955.4(SEPSECS):c.388+3A>G rs757504141 0.00006
NM_019616.4(F7):c.364+1G>A rs1056071555 0.00006
NM_020158.4(EXOSC5):c.341C>T (p.Thr114Ile) rs542429051 0.00006
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg) rs119103212 0.00006
NM_020320.5(RARS2):c.1564G>A (p.Val522Ile) rs201386427 0.00006
NM_020921.4(NIN):c.5126A>G (p.Asn1709Ser) rs387907308 0.00006
NM_020944.3(GBA2):c.266G>C (p.Cys89Ser) rs143885818 0.00006
NM_021629.4(GNB4):c.204-4C>G rs377746889 0.00006
NM_021729.6(VPS11):c.2536T>G (p.Cys846Gly) rs34757931 0.00006
NM_024675.4(PALB2):c.109C>A (p.Arg37Ser) rs200048921 0.00006
NM_024996.7(GFM1):c.2011C>T (p.Arg671Cys) rs201408725 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_032043.3(BRIP1):c.689C>T (p.Ser230Leu) rs759031349 0.00006
NM_058216.3(RAD51C):c.14C>T (p.Thr5Met) rs201523760 0.00006
NM_058216.3(RAD51C):c.492T>G (p.Phe164Leu) rs573992101 0.00006
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019 0.00006
NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp) rs180675584 0.00006
NM_152564.5(VPS13B):c.6727G>T (p.Glu2243Ter) rs146960401 0.00006
NM_153676.4(USH1C):c.308G>A (p.Arg103His) rs397514500 0.00006
NM_153704.6(TMEM67):c.579_580del (p.Gly195fs) rs386834202 0.00006
NM_170784.3(MKKS):c.830T>C (p.Leu277Pro) rs74315398 0.00006
NM_183050.4(BCKDHB):c.509G>A (p.Arg170His) rs371518124 0.00006
NM_201253.3(CRB1):c.584G>T (p.Cys195Phe) rs764256655 0.00006
NM_206933.4(USH2A):c.1036A>C (p.Asn346His) rs369522997 0.00006
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264 0.00006
NM_206933.4(USH2A):c.10999A>C (p.Thr3667Pro) rs150822759 0.00006
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His) rs527236139 0.00006
NM_206933.4(USH2A):c.12295-3T>A rs111033518 0.00006
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp) rs201527662 0.00006
NM_000018.4(ACADVL):c.779C>T (p.Thr260Met) rs113994168 0.00005
NM_000022.4(ADA):c.872C>T (p.Ser291Leu) rs121908721 0.00005
NM_000023.4(SGCA):c.614C>A (p.Pro205His) rs757481230 0.00005
NM_000030.3(AGXT):c.697C>T (p.Arg233Cys) rs121908526 0.00005
NM_000053.4(ATP7B):c.1285+5G>T rs370579582 0.00005
NM_000053.4(ATP7B):c.3316G>A (p.Val1106Ile) rs541208827 0.00005
NM_000059.4(BRCA2):c.5268A>G (p.Val1756=) rs199879914 0.00005
NM_000059.4(BRCA2):c.9592T>C (p.Cys3198Arg) rs80359229 0.00005
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly) rs200379491 0.00005
NM_000135.4(FANCA):c.1049G>A (p.Arg350Gln) rs199967286 0.00005
NM_000135.4(FANCA):c.2080G>A (p.Asp694Asn) rs201589909 0.00005
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398 0.00005
NM_000143.4(FH):c.1127A>C (p.Gln376Pro) rs200796606 0.00005
NM_000151.4(G6PC1):c.113A>T (p.Asp38Val) rs104894565 0.00005
NM_000152.5(GAA):c.1409A>C (p.Asn470Thr) rs144155165 0.00005
NM_000158.4(GBE1):c.1544G>A (p.Arg515His) rs201958741 0.00005
NM_000159.4(GCDH):c.881G>A (p.Arg294Gln) rs775606471 0.00005
NM_000182.5(HADHA):c.180+3A>G rs781222705 0.00005
NM_000183.3(HADHB):c.182G>A (p.Arg61His) rs121913132 0.00005
NM_000199.5(SGSH):c.703G>A (p.Asp235Asn) rs753472891 0.00005
NM_000228.3(LAMB3):c.1705C>T (p.Arg569Ter) rs201551805 0.00005
NM_000249.4(MLH1):c.1154G>A (p.Arg385His) rs63750430 0.00005
NM_000249.4(MLH1):c.80G>A (p.Arg27Gln) rs138705565 0.00005
NM_000251.3(MSH2):c.1774A>G (p.Met592Val) rs371614039 0.00005
NM_000251.3(MSH2):c.885C>G (p.Asp295Glu) rs201334592 0.00005
NM_000274.4(OAT):c.1250C>T (p.Pro417Leu) rs121965044 0.00005
NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys) rs121918169 0.00005
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg) rs121909152 0.00005
NM_000292.3(PHKA2):c.4C>G (p.Arg2Gly) rs140014925 0.00005
NM_000295.5(SERPINA1):c.646+2T>C rs112661131 0.00005
NM_000303.3(PMM2):c.91T>C (p.Phe31Leu) rs749720760 0.00005
NM_000310.4(PPT1):c.413C>T (p.Ser138Leu) rs386833646 0.00005
NM_000372.5(TYR):c.1063G>C (p.Ala355Pro) rs62645908 0.00005
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr) rs119455954 0.00005
NM_000465.4(BARD1):c.841C>T (p.Pro281Ser) rs200059956 0.00005
NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter) rs61750418 0.00005
NM_000486.6(AQP2):c.782C>T (p.Ser261Leu) rs376000406 0.00005
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe) rs1800089 0.00005
NM_000532.5(PCCB):c.1127G>A (p.Arg376His) rs142982097 0.00005
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu) rs374722096 0.00005
NM_000540.3(RYR1):c.2996G>A (p.Arg999His) rs180714609 0.00005
NM_000925.4(PDHB):c.426A>G (p.Ile142Met) rs151247980 0.00005
NM_001005498.4(RHBDF2):c.359T>C (p.Met120Thr) rs367658130 0.00005
NM_001042492.3(NF1):c.1894T>A (p.Cys632Ser) rs370789267 0.00005
NM_001044385.3(TMEM237):c.42+1G>A rs1378726802 0.00005
NM_001079866.2(BCS1L):c.871C>T (p.Arg291Ter) rs201454788 0.00005
NM_001113378.2(FANCI):c.3853C>T (p.Arg1285Ter) rs121918164 0.00005
NM_001142800.2(EYS):c.6571+5G>A rs991580368 0.00005
NM_001243279.3(ACSF3):c.246del (p.Cys83fs) rs772073893 0.00005
NM_001278716.2(FBXL4):c.64C>T (p.Arg22Ter) rs200440128 0.00005
NM_001360.3(DHCR7):c.976G>T (p.Val326Leu) rs80338859 0.00005
NM_001365088.1(SLC12A6):c.776del (p.Ala259fs) rs776790336 0.00005
NM_001370658.1(BTD):c.383G>A (p.Arg128His) rs367902696 0.00005
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys) rs369102875 0.00005
NM_001876.4(CPT1A):c.1163+1G>A rs148059333 0.00005
NM_002691.4(POLD1):c.1295G>A (p.Arg432Gln) rs139557851 0.00005
NM_003060.4(SLC22A5):c.1462C>T (p.Arg488Cys) rs377216516 0.00005
NM_003227.4(TFR2):c.2014C>T (p.Gln672Ter) rs1051249273 0.00005
NM_004304.5(ALK):c.3338G>A (p.Arg1113Gln) rs199987354 0.00005
NM_004453.4(ETFDH):c.295C>T (p.Arg99Cys) rs371493232 0.00005
NM_004646.4(NPHS1):c.2491C>T (p.Arg831Cys) rs386833915 0.00005
NM_004722.4(AP4M1):c.1140G>A (p.Met380Ile) rs574878636 0.00005
NM_005026.5(PIK3CD):c.1955+15C>T rs186998116 0.00005
NM_005120.3(MED12):c.4864-6C>T rs1018026145 0.00005
NM_005609.4(PYGM):c.2178-1G>A rs143670942 0.00005
NM_006261.5(PROP1):c.358C>T (p.Arg120Cys) rs121917839 0.00005
NM_007103.4(NDUFV1):c.166T>C (p.Ser56Pro) rs201727685 0.00005
NM_012434.5(SLC17A5):c.719G>A (p.Trp240Ter) rs386833993 0.00005
NM_014795.4(ZEB2):c.219C>T (p.His73=) rs778851716 0.00005
NM_020320.5(RARS2):c.1544A>G (p.Asp515Gly) rs765088174 0.00005
NM_022132.5(MCCC2):c.641G>C (p.Gly214Ala) rs277995 0.00005
NM_024675.4(PALB2):c.1337A>T (p.Asp446Val) rs146434474 0.00005
NM_024675.4(PALB2):c.3404G>A (p.Gly1135Glu) rs730881894 0.00005
NM_024675.4(PALB2):c.3412G>A (p.Ala1138Thr) rs577651839 0.00005
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp) rs768933093 0.00005
NM_025137.4(SPG11):c.733_734del (p.Met245fs) rs312262720 0.00005
NM_030777.4(SLC2A10):c.313C>T (p.Arg105Cys) rs767864243 0.00005
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_052845.4(MMAB):c.562G>A (p.Val188Met) rs768176676 0.00005
NM_054012.4(ASS1):c.787G>A (p.Val263Met) rs192838388 0.00005
NM_054012.4(ASS1):c.911G>A (p.Arg304Gln) rs771640767 0.00005
NM_130839.5(UBE3A):c.1179T>C (p.Asp393=) rs143000400 0.00005
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr) rs200511261 0.00005
NM_152618.3(BBS12):c.1055A>C (p.Gln352Pro) rs767068756 0.00005
NM_000016.6(ACADM):c.1118T>C (p.Val373Ala) rs373057729 0.00004
NM_000016.6(ACADM):c.1189T>A (p.Tyr397Asn) rs759158371 0.00004
NM_000016.6(ACADM):c.388-3T>G rs764942250 0.00004
NM_000016.6(ACADM):c.50G>A (p.Arg17His) rs17848070 0.00004
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp) rs745832866 0.00004
NM_000018.4(ACADVL):c.1531C>T (p.Arg511Trp) rs771025937 0.00004
NM_000018.4(ACADVL):c.1820G>C (p.Cys607Ser) rs200117742 0.00004
NM_000019.4(ACAT1):c.444_445del (p.Met148fs) rs727503795 0.00004
NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser) rs199524907 0.00004
NM_000019.4(ACAT1):c.623G>A (p.Arg208Gln) rs370720208 0.00004
NM_000030.3(AGXT):c.568G>A (p.Gly190Arg) rs180177239 0.00004
NM_000030.3(AGXT):c.613T>C (p.Ser205Pro) rs121908520 0.00004
NM_000035.4(ALDOB):c.379+1G>T rs138121153 0.00004
NM_000038.6(APC):c.449A>G (p.Lys150Arg) rs371085910 0.00004
NM_000038.6(APC):c.6117G>T (p.Leu2039Phe) rs372418435 0.00004
NM_000045.4(ARG1):c.892G>C (p.Ala298Pro) rs755359126 0.00004
NM_000046.5(ARSB):c.1178A>C (p.His393Pro) rs118203944 0.00004
NM_000046.5(ARSB):c.455G>A (p.Arg152Gln) rs776814144 0.00004
NM_000046.5(ARSB):c.971G>T (p.Gly324Val) rs398123125 0.00004
NM_000048.4(ASL):c.578G>A (p.Arg193Gln) rs373697663 0.00004
NM_000049.4(ASPA):c.79G>A (p.Gly27Arg) rs766328537 0.00004
NM_000051.4(ATM):c.3175G>A (p.Ala1059Thr) rs370282831 0.00004
NM_000051.4(ATM):c.7816A>G (p.Ile2606Val) rs376824528 0.00004
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_000053.4(ATP7B):c.2183A>G (p.Asn728Ser) rs760713333 0.00004
NM_000053.4(ATP7B):c.3451C>T (p.Arg1151Cys) rs755554442 0.00004
NM_000053.4(ATP7B):c.4039G>A (p.Gly1347Ser) rs587783318 0.00004
NM_000053.4(ATP7B):c.503T>C (p.Leu168Pro) rs756237962 0.00004
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter) rs587779884 0.00004
NM_000070.3(CAPN3):c.1557C>T (p.His519=) rs368385372 0.00004
NM_000071.3(CBS):c.1499C>T (p.Ser500Leu) rs755106884 0.00004
NM_000071.3(CBS):c.341C>T (p.Ala114Val) rs121964964 0.00004
NM_000093.5(COL5A1):c.5311G>A (p.Asp1771Asn) rs1005244744 0.00004
NM_000098.3(CPT2):c.1646G>A (p.Gly549Asp) rs186044004 0.00004
NM_000098.3(CPT2):c.691C>T (p.Arg231Trp) rs373638740 0.00004
NM_000108.5(DLD):c.1382G>A (p.Gly461Glu) rs757275923 0.00004
NM_000110.4(DPYD):c.1475C>T (p.Ser492Leu) rs72549304 0.00004
NM_000110.4(DPYD):c.1651G>A (p.Ala551Thr) rs777425216 0.00004
NM_000110.4(DPYD):c.1681C>T (p.Arg561Ter) rs1057516968 0.00004
NM_000110.4(DPYD):c.187A>G (p.Lys63Glu) rs367619008 0.00004
NM_000110.4(DPYD):c.2275C>T (p.Arg759Ter) rs759372918 0.00004
NM_000110.4(DPYD):c.257C>T (p.Pro86Leu) rs568132506 0.00004
NM_000110.4(DPYD):c.703C>T (p.Arg235Trp) rs1801266 0.00004
NM_000126.4(ETFA):c.667C>T (p.Arg223Ter) rs769976586 0.00004
NM_000135.4(FANCA):c.2009G>A (p.Arg670His) rs537923341 0.00004
NM_000135.4(FANCA):c.3349-1G>A rs769862233 0.00004
NM_000135.4(FANCA):c.4015del (p.Leu1339fs) rs762902309 0.00004
NM_000136.3(FANCC):c.521+1G>A rs145394391 0.00004
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys) rs770610356 0.00004
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu) rs148842275 0.00004
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter) rs140826989 0.00004
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer) rs781088002 0.00004
NM_000152.5(GAA):c.784G>A (p.Glu262Lys) rs201896815 0.00004
NM_000153.4(GALC):c.1592G>A (p.Arg531His) rs200378205 0.00004
NM_000153.4(GALC):c.2041G>A (p.Val681Met) rs200607029 0.00004
NM_000154.2(GALK1):c.1031C>T (p.Thr344Met) rs371517491 0.00004
NM_000154.2(GALK1):c.1045G>A (p.Gly349Ser) rs754967473 0.00004
NM_000155.4(GALT):c.1006A>T (p.Met336Leu) rs111033810 0.00004
NM_000155.4(GALT):c.512T>C (p.Phe171Ser) rs111033715 0.00004
NM_000158.4(GBE1):c.1825G>A (p.Glu609Lys) rs772802187 0.00004
NM_000158.4(GBE1):c.760A>G (p.Thr254Ala) rs770427750 0.00004
NM_000159.4(GCDH):c.1063C>T (p.Arg355Cys) rs781477694 0.00004
NM_000159.4(GCDH):c.848del (p.Leu283fs) rs761491320 0.00004
NM_000182.5(HADHA):c.919-2A>G rs200017313 0.00004
NM_000183.3(HADHB):c.1289T>C (p.Phe430Ser) rs375329638 0.00004
NM_000191.3(HMGCL):c.698A>G (p.His233Arg) rs727503963 0.00004
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys) rs766938111 0.00004
NM_000199.5(SGSH):c.1129C>T (p.Arg377Cys) rs772311757 0.00004
NM_000199.5(SGSH):c.1297C>T (p.Arg433Trp) rs777267343 0.00004
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser) rs143947056 0.00004
NM_000231.3(SGCG):c.195+1G>C rs200502077 0.00004
NM_000249.4(MLH1):c.1148T>C (p.Met383Thr) rs141344760 0.00004
NM_000249.4(MLH1):c.1565G>A (p.Arg522Gln) rs63751630 0.00004
NM_000249.4(MLH1):c.52C>T (p.Arg18Cys) rs367654552 0.00004
NM_000251.3(MSH2):c.1021C>G (p.Leu341Val) rs748115066 0.00004
NM_000251.3(MSH2):c.1530G>C (p.Gln510His) rs587782355 0.00004
NM_000251.3(MSH2):c.1600C>T (p.Arg534Cys) rs63750029 0.00004
NM_000251.3(MSH2):c.1601G>A (p.Arg534His) rs587778523 0.00004
NM_000251.3(MSH2):c.1813G>T (p.Val605Phe) rs730881777 0.00004
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226 0.00004
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met) rs371488302 0.00004
NM_000277.3(PAH):c.1238G>A (p.Arg413His) rs79931499 0.00004
NM_000277.3(PAH):c.261C>A (p.Ser87Arg) rs62516151 0.00004
NM_000277.3(PAH):c.842+1G>A rs5030852 0.00004
NM_000277.3(PAH):c.964G>A (p.Ala322Thr) rs62514957 0.00004
NM_000282.4(PCCA):c.782A>G (p.Glu261Gly) rs1169861687 0.00004
NM_000288.4(PEX7):c.618G>A (p.Trp206Ter) rs61753245 0.00004
NM_000289.6(PFKM):c.298C>T (p.Arg100Ter) rs374547385 0.00004
NM_000293.3(PHKB):c.30A>C (p.Glu10Asp) rs760502380 0.00004
NM_000303.3(PMM2):c.24del (p.Cys9fs) rs768021123 0.00004
NM_000303.3(PMM2):c.640-15479C>T rs1258107584 0.00004
NM_000310.4(PPT1):c.29T>A (p.Leu10Ter) rs137852699 0.00004
NM_000317.3(PTS):c.164-672C>T rs1030849527 0.00004
NM_000329.3(RPE65):c.131G>A (p.Arg44Gln) rs61751282 0.00004
NM_000329.3(RPE65):c.65T>C (p.Leu22Pro) rs61751277 0.00004
NM_000359.3(TGM1):c.1631A>G (p.Tyr544Cys) rs1044429462 0.00004
NM_000359.3(TGM1):c.377G>A (p.Arg126His) rs200491579 0.00004
NM_000359.3(TGM1):c.425G>A (p.Arg142His) rs121918718 0.00004
NM_000359.3(TGM1):c.876+2T>C rs151054393 0.00004
NM_000360.4(TH):c.1382C>T (p.Pro461Leu) rs767635052 0.00004
NM_000360.4(TH):c.91-818G>A rs753403788 0.00004
NM_000370.3(TTPA):c.400C>T (p.Arg134Ter) rs121917851 0.00004
NM_000372.5(TYR):c.1264C>T (p.Arg422Trp) rs749979474 0.00004
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) rs137852339 0.00004
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp) rs137852331 0.00004
NM_000426.4(LAMA2):c.830C>T (p.Ser277Leu) rs398123388 0.00004
NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met) rs111033220 0.00004
NM_000441.2(SLC26A4):c.1673A>G (p.Asn558Ser) rs766206507 0.00004
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362 0.00004
NM_000478.6(ALPL):c.1363G>A (p.Gly455Ser) rs149889416 0.00004
NM_000478.6(ALPL):c.529G>A (p.Ala177Thr) rs199669988 0.00004
NM_000478.6(ALPL):c.979T>C (p.Phe327Leu) rs121918010 0.00004
NM_000481.4(AMT):c.280C>T (p.Arg94Trp) rs1126422 0.00004
NM_000481.4(AMT):c.959G>A (p.Arg320His) rs121964985 0.00004
NM_000484.4(APP):c.917G>A (p.Arg306His) rs202218688 0.00004
NM_000497.4(CYP11B1):c.956C>T (p.Thr319Met) rs104894068 0.00004
NM_000532.5(PCCB):c.1229G>A (p.Arg410Gln) rs778742647 0.00004
NM_000532.5(PCCB):c.1514T>C (p.Ile505Thr) rs1353542774 0.00004
NM_000543.5(SMPD1):c.1426C>T (p.Arg476Trp) rs182812968 0.00004
NM_000543.5(SMPD1):c.475T>C (p.Cys159Arg) rs727504166 0.00004
NM_000543.5(SMPD1):c.533T>A (p.Ile178Asn) rs749780769 0.00004
NM_000543.5(SMPD1):c.557C>T (p.Pro186Leu) rs1057517195 0.00004
NM_000709.4(BCKDHA):c.349C>T (p.Arg117Cys) rs188135164 0.00004
NM_000709.4(BCKDHA):c.996-26A>G rs757986569 0.00004
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln) rs587778818 0.00004
NM_000784.4(CYP27A1):c.845-1G>A rs397515353 0.00004
NM_000785.4(CYP27B1):c.1226C>T (p.Thr409Ile) rs118204008 0.00004
NM_000969.5(RPL5):c.403A>G (p.Ile135Val) rs200075817 0.00004
NM_001007792.1(NTRK1):c.163C>A (p.Arg55Ser) rs543320028 0.00004
NM_001018115.3(FANCD2):c.2380C>T (p.Arg794Ter) rs755350165 0.00004
NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala) rs143836226 0.00004
NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp) rs765123255 0.00004
NM_001048174.2(MUTYH):c.954G>A (p.Ser318=) rs372673338 0.00004
NM_001079866.2(BCS1L):c.598C>T (p.Arg200Ter) rs776838028 0.00004
NM_001080453.3(INTS1):c.229C>T (p.Arg77Cys) rs200649090 0.00004
NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro) rs28931569 0.00004
NM_001142800.2(EYS):c.7492G>C (p.Ala2498Pro) rs1311193836 0.00004
NM_001142800.2(EYS):c.8834G>A (p.Gly2945Glu) rs1161453292 0.00004
NM_001164508.2(NEB):c.4315G>A (p.Glu1439Lys) rs771779312 0.00004
NM_001164508.2(NEB):c.5429C>T (p.Ala1810Val) rs752744680 0.00004
NM_001164508.2(NEB):c.6916-20T>C rs780933765 0.00004
NM_001201543.2(FAM161A):c.1501del (p.Cys501fs) rs767414973 0.00004
NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp) rs147538370 0.00004
NM_001243279.3(ACSF3):c.1553C>A (p.Ala518Asp) rs761852278 0.00004
NM_001243279.3(ACSF3):c.348G>A (p.Trp116Ter) rs757905943 0.00004
NM_001243279.3(ACSF3):c.451G>T (p.Glu151Ter) rs752338222 0.00004
NM_001243279.3(ACSF3):c.781G>T (p.Gly261Ter) rs746877433 0.00004
NM_001352514.2(HLCS):c.2260dup (p.Ser754fs) rs766163167 0.00004
NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter) rs146448211 0.00004
NM_001360.3(DHCR7):c.1A>G (p.Met1Val) rs104886033 0.00004
NM_001360.3(DHCR7):c.725G>A (p.Arg242His) rs80338857 0.00004
NM_001370259.2(MEN1):c.1098A>T (p.Glu366Asp) rs149383809 0.00004
NM_001370259.2(MEN1):c.1594G>T (p.Gly532Cys) rs587780843 0.00004
NM_001370259.2(MEN1):c.774G>C (p.Gln258His) rs374659656 0.00004
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys) rs397514345 0.00004
NM_001370658.1(BTD):c.873del (p.Ser291fs) rs397514395 0.00004
NM_001378120.1(MBD5):c.4088T>C (p.Ile1363Thr) rs748142226 0.00004
NM_001768.7(CD8A):c.188C>G (p.Ala63Gly) rs537395900 0.00004
NM_001918.5(DBT):c.1018-550A>G rs796052135 0.00004
NM_001918.5(DBT):c.75_76del (p.Cys26fs) rs768832921 0.00004
NM_002225.5(IVD):c.1174C>T (p.Arg392Cys) rs371427844 0.00004
NM_002225.5(IVD):c.1232G>A (p.Arg411Gln) rs143348838 0.00004
NM_002225.5(IVD):c.287-1G>A rs1398838997 0.00004
NM_002382.5(MAX):c.56A>T (p.Gln19Leu) rs200547781 0.00004
NM_002528.7(NTHL1):c.782G>A (p.Trp261Ter) rs753029097 0.00004
NM_002529.4(NTRK1):c.818G>A (p.Arg273Gln) rs200305545 0.00004
NM_002691.4(POLD1):c.1118A>G (p.Lys373Arg) rs770407151 0.00004
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) rs121918044 0.00004
NM_003060.4(SLC22A5):c.680G>A (p.Arg227His) rs185551386 0.00004
NM_003060.4(SLC22A5):c.769C>T (p.Arg257Trp) rs386134203 0.00004
NM_003072.5(SMARCA4):c.656C>T (p.Thr219Met) rs371832808 0.00004
NM_003119.4(SPG7):c.1948G>A (p.Asp650Asn) rs769602042 0.00004
NM_003482.4(KMT2D):c.13463A>G (p.Asn4488Ser) rs779247029 0.00004
NM_003482.4(KMT2D):c.7463C>T (p.Ser2488Leu) rs779629382 0.00004
NM_003640.5(ELP1):c.3592C>T (p.Arg1198Ter) rs376078668 0.00004
NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys) rs72549395 0.00004
NM_003924.4(PHOX2B):c.146C>A (p.Thr49Asn) rs559227588 0.00004
NM_003982.4(SLC7A7):c.377del (p.Ile126fs) rs774080549 0.00004
NM_003982.4(SLC7A7):c.625+1G>A rs386833822 0.00004
NM_004064.5(CDKN1B):c.216C>T (p.Gly72=) rs776643344 0.00004
NM_004092.4(ECHS1):c.538A>G (p.Thr180Ala) rs557128093 0.00004
NM_004369.4(COL6A3):c.2303G>A (p.Arg768His) rs575412915 0.00004
NM_004453.4(ETFDH):c.1234G>T (p.Glu412Ter) rs398124151 0.00004
NM_004453.4(ETFDH):c.1414G>A (p.Gly472Arg) rs746598421 0.00004
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr) rs121964954 0.00004
NM_004453.4(ETFDH):c.523C>T (p.Arg175Cys) rs762928354 0.00004
NM_004628.5(XPC):c.2074A>T (p.Lys692Ter) rs374117852 0.00004
NM_004646.4(NPHS1):c.2928G>T (p.Arg976Ser) rs138656762 0.00004
NM_004937.3(CTNS):c.473T>C (p.Leu158Pro) rs113994206 0.00004
NM_004937.3(CTNS):c.589G>A (p.Gly197Arg) rs113994207 0.00004
NM_004946.3(DOCK2):c.1384-4T>C rs1295678117 0.00004
NM_005476.7(GNE):c.647T>C (p.Val216Ala) rs779694939 0.00004
NM_005591.4(MRE11):c.1015A>T (p.Lys339Ter) rs984874083 0.00004
NM_005591.4(MRE11):c.1516G>T (p.Glu506Ter) rs587781384 0.00004
NM_005609.4(PYGM):c.1466C>G (p.Pro489Arg) rs398124209 0.00004
NM_005609.4(PYGM):c.2312G>A (p.Arg771Gln) rs150911354 0.00004
NM_005726.6(TSFM):c.944G>A (p.Cys315Tyr) rs587777688 0.00004
NM_005994.4(TBX2):c.59G>A (p.Arg20Gln) rs1364709483 0.00004
NM_006214.4(PHYH):c.497-2A>G rs144169488 0.00004
NM_006231.4(POLE):c.155G>A (p.Arg52Gln) rs372459649 0.00004
NM_006493.4(CLN5):c.524G>A (p.Trp175Ter) rs386833980 0.00004
NM_006493.4(CLN5):c.838G>T (p.Gly280Ter) rs768449493 0.00004
NM_006567.5(FARS2):c.497C>T (p.Ala166Val) rs538791135 0.00004
NM_006767.4(LZTR1):c.2317G>A (p.Val773Met) rs199586863 0.00004
NM_006772.3(SYNGAP1):c.1724G>A (p.Arg575His) rs758932190 0.00004
NM_006772.3(SYNGAP1):c.3913A>G (p.Thr1305Ala) rs749376396 0.00004
NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met) rs121913659 0.00004
NM_007194.4(CHEK2):c.1008G>A (p.Gln336=) rs201544715 0.00004
NM_007194.4(CHEK2):c.1368dup (p.Glu457fs) rs730881700 0.00004
NM_007194.4(CHEK2):c.1423T>A (p.Phe475Ile) rs370968992 0.00004
NM_007315.4(STAT1):c.1727+13G>A rs377146580 0.00004
NM_012123.4(MTO1):c.1201C>T (p.Arg401Ter) rs775623164 0.00004
NM_014249.4(NR2E3):c.1025T>C (p.Val342Ala) rs757665544 0.00004
NM_014252.4(SLC25A15):c.815C>T (p.Thr272Ile) rs121908535 0.00004
NM_014363.6(SACS):c.2439_2440del (p.Val815fs) rs775059063 0.00004
NM_014625.4(NPHS2):c.851C>T (p.Ala284Val) rs780761368 0.00004
NM_017613.4(DONSON):c.1047-9A>G rs779149681 0.00004
NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys) rs28940869 0.00004
NM_017739.4(POMGNT1):c.932G>A (p.Arg311Gln) rs193919336 0.00004
NM_017849.4(TMEM127):c.217G>C (p.Gly73Arg) rs121908820 0.00004
NM_018055.5(NODAL):c.778G>A (p.Gly260Arg) rs121909283 0.00004
NM_020166.5(MCCC1):c.1331G>A (p.Arg444His) rs768785753 0.00004
NM_020320.5(RARS2):c.943C>T (p.Arg315Ter) rs199835443 0.00004
NM_020533.3(MCOLN1):c.1084G>T (p.Asp362Tyr) rs121908372 0.00004
NM_020549.5(CHAT):c.1669G>A (p.Ala557Thr) rs372760913 0.00004
NM_021922.3(FANCE):c.1111C>T (p.Arg371Trp) rs775076977 0.00004
NM_022081.6(HPS4):c.649C>T (p.Arg217Ter) rs119471023 0.00004
NM_022132.5(MCCC2):c.1309A>G (p.Ile437Val) rs119103224 0.00004
NM_022132.5(MCCC2):c.518C>T (p.Ser173Leu) rs752866557 0.00004
NM_022132.5(MCCC2):c.577C>T (p.Arg193Cys) rs547662164 0.00004
NM_024675.4(PALB2):c.100C>T (p.Arg34Cys) rs373483056 0.00004
NM_024675.4(PALB2):c.1316G>T (p.Gly439Val) rs537258442 0.00004
NM_024675.4(PALB2):c.2289G>C (p.Leu763Phe) rs373478248 0.00004
NM_024675.4(PALB2):c.2608G>A (p.Val870Ile) rs376641234 0.00004
NM_024675.4(PALB2):c.2674G>A (p.Glu892Lys) rs45476495 0.00004
NM_024876.4(COQ8B):c.532C>T (p.Arg178Trp) rs398122978 </