ClinVar Miner

Variants from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories: Collection method of the submission from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories:
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 Variants with at least 2 submissions 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 kind of conflict
2753 2825 192 3374 1729 177 481 4775

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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories pathogenic likely pathogenic uncertain significance likely benign benign affects association drug response protective risk factor other
pathogenic 57 307 99 18 12 2 0 13 3 17 33
likely pathogenic 129 0 89 9 2 0 0 0 0 2 8
uncertain significance 99 103 8 556 209 0 1 3 1 4 25
likely benign 31 14 514 4 620 0 0 0 0 5 28
benign 58 20 590 2319 123 1 3 4 1 17 20

Submitter to submitter summary #

Total submitters: 263
Download table as spreadsheet
Submitter Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
Illumina Clinical Services Laboratory,Illumina 0 843 0 1502 457 0 25 1983
Invitae 0 3848 0 629 478 11 91 1207
GeneDx 0 2829 2 478 222 1 43 745
Ambry Genetics 0 1694 0 349 118 0 34 501
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 1685 0 213 217 12 42 484
Genetic Services Laboratory, University of Chicago 0 273 0 287 56 1 6 350
PreventionGenetics,PreventionGenetics 0 1728 0 275 43 0 4 322
CeGaT Praxis fuer Humangenetik Tuebingen 0 244 0 117 176 0 23 316
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 1332 0 164 120 1 25 310
OMIM 0 391 0 30 33 133 99 287
Integrated Genetics/Laboratory Corporation of America 0 1088 3 149 103 0 32 285
Counsyl 0 584 0 221 25 0 38 284
Mendelics 0 388 0 176 67 0 38 281
Color 0 815 0 136 73 0 4 213
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 148 76 46 66 0 1 189
Quest Diagnostics Nichols Institute San Juan Capistrano 0 412 0 102 58 0 16 176
Athena Diagnostics Inc 0 595 0 99 51 0 4 153
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 218 0 114 17 0 11 142
True Health Diagnostics 0 80 0 127 5 1 0 133
GeneReviews 0 131 62 12 3 1 37 114
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 285 0 89 17 0 2 108
Center for Human Genetics, Inc 0 92 0 66 34 0 2 102
Breast Cancer Information Core (BIC) (BRCA2) 0 123 0 6 91 0 4 101
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 227 0 69 16 0 0 85
Department of Pathology and Laboratory Medicine,Sinai Health System 0 340 0 62 21 0 0 83
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 0 22 59 12 3 0 0 74
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 168 0 67 6 0 0 73
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 21 0 64 4 0 0 68
CSER _CC_NCGL, University of Washington 0 58 0 27 34 0 4 65
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 204 0 57 7 0 0 64
Fulgent Genetics,Fulgent Genetics 0 264 0 46 11 0 4 61
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 126 0 28 21 0 6 55
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 268 0 48 6 0 1 55
Sharing Clinical Reports Project (SCRP) 0 187 0 27 26 0 0 53
Breast Cancer Information Core (BIC) (BRCA1) 0 59 0 1 47 0 2 50
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 220 0 44 3 0 0 47
Blueprint Genetics 0 69 0 15 21 1 9 45
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 74 0 21 21 0 3 45
Baylor Genetics 0 265 0 25 2 0 15 42
NIHR Bioresource Rare Diseases, University of Cambridge 0 37 0 20 3 0 13 36
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 50 0 17 12 1 4 34
Pathway Genomics 0 66 0 28 4 0 0 32
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 66 0 27 3 0 0 30
Database of Curated Mutations (DoCM) 0 4 0 20 0 0 5 25
Vantari Genetics 0 34 0 17 6 0 0 23
CFTR-France 0 78 0 8 2 0 11 21
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 33 0 5 6 0 9 20
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 19 0 3 15 0 2 20
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 37 0 4 15 0 0 19
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 30 0 3 13 0 3 19
PharmGKB 0 0 0 0 0 18 0 18
SIB Swiss Institute of Bioinformatics 0 26 0 9 6 0 3 18
Inherited Neuropathy Consortium 0 4 0 1 7 0 10 18
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 34 0 9 3 0 5 17
Center for Medical Genetics Ghent,University of Ghent 0 21 0 10 3 0 3 16
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 56 0 5 5 0 4 14
Michigan Medical Genetics Laboratories,University of Michigan 0 138 0 10 4 0 0 14
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 37 0 3 7 0 4 14
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 25 0 3 7 0 4 14
University of Washington Department of Laboratory Medicine, University of Washington 0 24 0 7 5 1 1 14
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 5 0 3 8 0 2 13
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 4 0 3 1 0 9 13
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 0 6 0 6 3 0 2 11
Cancer Genetics Laboratory,Peter MacCallum Cancer Centre 0 2 0 9 2 0 0 11
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 21 0 3 6 0 2 11
GeneKor MSA 0 70 0 6 3 1 0 10
Research and Development, ARUP Laboratories 0 89 2 6 0 0 2 10
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg 0 3 0 3 1 0 5 9
ClinGen Hearing Loss Variant Curation Expert Panel, 0 11 0 1 4 0 4 9
Johns Hopkins Genomics,Johns Hopkins University 0 16 0 5 3 0 1 9
Systems Biology Platform Zhejiang California International NanoSystems Institute 0 0 0 0 0 8 0 8
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 8 0 0 0 8
Division of Human Genetics,Children's Hospital of Philadelphia 0 26 0 5 1 0 2 8
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 42 0 5 0 0 3 8
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 5 0 8 0 0 0 8
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center 0 7 0 0 7 0 0 7
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency 0 73 0 5 2 0 0 7
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 18 0 4 0 0 2 6
Academic Department of Medical Genetics, University of Cambridge 0 4 0 5 0 0 1 6
UCLA Clinical Genomics Center, UCLA 0 6 0 5 0 0 1 6
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 5 0 2 2 0 2 6
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 15 0 2 0 1 3 6
Personalized Diabetes Medicine Program,University of Maryland School of Medicine 0 5 0 1 5 0 0 6
Department of Medical Genetics,University Hospital of North Norway 0 2 0 5 1 0 0 6
Dan Cohn Lab,University Of California Los Angeles 0 5 0 3 0 0 3 6
ClinGen RASopathy Variant Curation Expert Panel 0 40 0 2 4 0 0 6
Claritas Genomics 0 6 0 3 2 0 0 5
CFTR2 0 54 0 5 0 0 0 5
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 31 0 2 0 2 1 5
Northcott Neuroscience Laboratory, ANZAC Research Institute 0 1 3 0 1 0 1 5
Department of Pathology and Molecular Medicine,Queen's University 0 28 0 3 2 0 0 5
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 0 95 0 4 1 0 0 5
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 18 0 3 0 0 2 5
ClinGen PTEN Variant Curation Expert Panel 0 5 0 3 1 0 1 5
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 0 12 0 4 0 0 2 5
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 1 0 0 3 4
PALB2 database 0 7 0 2 2 0 0 4
Gharavi Laboratory,Columbia University 0 13 0 2 0 0 2 4
National Institute of Sensory Organs,National Hospital Organization Tokyo Medical Center 0 1 0 0 0 4 0 4
Difficult and Complicated Liver Diseases and Artificial Liver Center,Beijing You An Hospital, Capital Medical University 0 2 0 0 1 0 3 4
Medical Genomics Laboratory,Department of Genetics UAB 0 2 0 3 0 0 0 3
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 25 0 0 1 0 2 3
Institute of Human Genetics,Klinikum rechts der Isar 0 22 0 2 0 0 1 3
Department of Pharmacy and Biotechnology,University of Bologna 0 1 0 0 3 0 0 3
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 10 0 1 2 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 4 0 2 0 0 1 3
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 0 0 2 1 0 0 3
Genome Sciences Centre,British Columbia Cancer Agency 0 1 0 2 0 0 1 3
Medical Genetics, University of Parma 0 1 0 1 1 0 1 3
Centre for Genomic and Experimental Medicine,University of Edinburgh 0 6 0 0 1 0 2 3
Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc. 0 1 0 0 3 0 0 3
Laboratory of Prof. Karen Avraham,Tel Aviv University 0 0 0 2 0 0 1 3
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 0 1 1 0 1 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 13 0 1 0 0 2 3
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 2 0 0 2 0 1 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 11 0 3 0 0 0 3
Phosphorus, Inc. 0 13 0 1 2 0 0 3
Sharon lab,Hadassah-Hebrew University Medical Center 0 6 0 0 0 0 3 3
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 1 1 0 1 3
3DMed Clinical Laboratory Inc 0 6 0 0 3 0 0 3
Clinical Genomics Lab,St. Jude Children's Research Hospital 0 10 0 1 2 0 0 3
Reproductive Health Research and Development,BGI Genomics 0 16 0 1 1 0 1 3
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 30 0 0 2 0 0 2
Cancer Genomic Medicine Translational Research Lab,Cleveland Clinic Genomic Medicine Institute 0 1 0 0 1 0 1 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 10321 30 0 1 0 0 1 2
Wellcome Centre for Mitochondrial Research,Newcastle University 0 4 0 1 0 0 1 2
Forschungslabor Klinik Innere Medizin A University Medicine Greifswald 0 0 0 0 2 0 0 2
University of Washington Center for Mendelian Genomics,University of Washington 0 2 0 2 0 0 0 2
Center for Human Genetics,University of Leuven 0 3 0 1 0 0 1 2
Department of Immunology,Hospital Universitario Virgen del Rocio 0 0 0 0 0 0 2 2
Neurogenetics Laboratory - MEYER,AOU Meyer 0 1 0 1 0 0 1 2
Genetics,Medical University of Vienna 0 0 0 2 0 0 0 2
Center of Medical Genetics and Primary Health Care 0 4 0 0 0 1 1 2
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 2 0 1 1 0 1 2
Medical & Molecular Genetics Group,University of Lincoln 0 17 0 1 0 0 1 2
Snyder Lab, Genetics Department,Stanford University 0 1 0 1 0 1 0 2
Human Genomics Unit,Institute for molecular medicine Finland (FIMM) 0 0 0 1 0 0 1 2
Medical Genetics Summaries 0 0 0 0 0 2 0 2
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 1 0 0 1 2
Molecular Diagnostics Laboratory, M Health: University of Minnesota 0 3 0 1 0 0 1 2
Clinical Cancer Genetics and Family Consultants,Athens Medical Center 0 0 0 0 0 0 2 2
Hereditary Cancer Genetics group,Vall d'Hebron Institute of Oncology 0 2 0 2 0 0 0 2
Natera Inc 0 15 0 2 0 0 0 2
Genesis Genome Database 0 1 0 0 0 0 2 2
Collagen Diagnostic Laboratory,University of Washington 0 1 0 0 0 0 1 1
Elsea Laboratory,Baylor College of Medicine 0 0 0 0 0 0 1 1
Institute of Human Genetics,Cologne University 0 1 0 0 0 0 1 1
FirmaLab 0 1 0 0 0 0 1 1
Genetics - Viapath,Viapath, Guy's Hospital 0 0 0 0 0 0 1 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 0 10 0 1 0 0 0 1
Columbia University Laboratory of Personalized Genomic Medicine,Columbia University Medical Center 0 0 0 0 0 0 1 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 0 0 0 0 1 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 0 0 1
Endocrinology Clinic, Seth G.S. Medical College 0 0 0 0 0 0 1 1
Eye Genetics Research Group,Children's Medical Research Institute 0 0 0 0 1 0 0 1
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust 0 34 0 0 0 0 1 1
PXE International 0 0 0 0 0 0 1 1
GenMed Metabolism Lab 0 2 0 1 0 0 0 1
Department of Psychiatry,Nagoya University 0 0 0 0 0 0 1 1
Center for Genetic Medicine Research,Children's National Medical Center 0 0 0 0 1 0 0 1
Institute of Human Genetics,University Medical Center Hamburg-Eppendorf 0 0 0 1 0 0 0 1
Department of Medical Genetics,Oslo University Hospital 0 22 0 0 0 0 1 1
Shaikh Laboratory, University of Colorado 0 0 0 0 0 0 1 1
University of British Columbia 0 0 0 0 0 0 1 1
Department of Molecular Endocrinology,National Research Institute for Child Health and Development 0 0 0 0 0 0 1 1
Department of Molecular and Human Genetics, Baylor College of Medicine 0 0 0 0 0 0 1 1
Institute of Pediatric Research,Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine 0 0 0 0 0 0 1 1
Service de Génétique Moléculaire,Hôpital Robert Debré 0 2 0 1 0 0 0 1
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics 0 0 0 0 0 1 0 1
Section on Endocrinology and Genetics,National Institutes of Health / The Eunice Kennedy Shriver National Institute of Child Health and Human Development 0 1 0 1 0 0 0 1
Science and Research Branch, Islamic Azad University,Islamic Azad University 0 0 0 0 0 0 1 1
Department of Genetics, Reproduction and Fetal Medicine.,Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville. 0 0 0 0 1 0 0 1
Department of Neurology, University Hospital of Strasbourg 0 0 0 0 0 0 1 1
Centre of Medical Genetics, University of Antwerp 0 0 0 0 0 0 1 1
Scripps Translational Science Institute,Scripps Health and The Scripps Research Institute 0 0 0 0 0 0 1 1
Foundation Medicine, Inc. 0 0 0 0 1 0 0 1
Institute for Ophthalmic Research,University Tuebingen 0 0 0 0 0 0 1 1
Dobyns Lab,Seattle Children's Research Institute 0 0 0 0 0 0 1 1
Endocrine Unit 2,University Hospital of Pisa 0 0 0 0 1 0 0 1
Cytogenetics Laboratory,Banaras Hindu University 0 0 0 0 0 0 1 1
Department of Clinical Genetics,Tartu University Hospital 0 0 0 0 0 0 1 1
Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health 0 0 0 0 0 0 1 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 0 0 1 0 0 0 1
Paul Sabatier University EA-4555, Paul Sabatier University 0 0 0 0 1 0 0 1
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust 0 0 0 0 0 0 1 1
Prof. Thelma's Laboratory, Department of Genetics,University of Delhi South Campus 0 0 0 0 0 0 1 1
Ludwig Lab, Institute of Human Genetics, University Hospital Bonn 0 0 0 0 0 0 1 1
Laboratory of Genetics, AOUP,Azienda Ospedaliera Universitaria Pisana 0 0 0 0 0 0 1 1
Forensic Genetics Laboratory,Harris County Institute of Forensic Sciences 0 0 0 0 0 0 1 1
Genetic Predisposition to Colorectal Cancer Group,Institut d’Investigacions Biomediques August Pi i Sunyer 0 0 0 0 0 0 1 1
Clinical Genetics, Erasmus University Medical Center 0 0 0 0 1 0 0 1
Medical Research Institute,Tokyo Medical and Dental University 0 0 0 0 0 0 1 1
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo 0 0 0 0 0 0 1 1
Department of Pediatrics and Neonatology,Nagoya City University Graduate School of Medical Sciences 0 1 0 0 0 0 1 1
Bioinformatics dept.,Datar Cancer Genetics Limited, India 0 5 0 0 0 0 1 1
Geschwind lab,University of California Los Angeles 0 0 0 0 0 1 1 1
Department of Medical Biochemistry and Genetics,University of Turku 0 0 0 0 0 0 1 1
Center for Statistical Genetics, Columbia University 0 2 0 0 1 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 4 0 0 0 0 1 1
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 0 0 0 0 0 1 1
Institute of Human Genetics,University of Wuerzburg 0 0 0 0 1 0 0 1
Weber Lab,Hannover Medical School 0 1 0 0 0 0 1 1
Human Genetics - Radboudumc,Radboudumc 0 4 0 1 0 0 0 1
GenePathDx,Causeway Health Care Private Ltd 0 1 0 0 1 0 0 1
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 95 0 0 0 0 1 1
Zuffardi lab,University of Pavia 0 0 0 0 0 0 1 1
Pediatric Highly Intensive Care Unit,Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 0 0 0 0 0 0 1 1
Robarts Research Institute,Western University 0 1 0 0 0 0 1 1
Daryl Scott Lab,Baylor College of Medicine 0 0 0 0 0 0 1 1
Undiagnosed Diseases Network,NIH 0 8 0 0 0 0 1 1
Tim Yu lab,Boston Children's Hospital 0 0 0 0 0 0 1 1
Caryl and Israel Englander Institute for Precision Medicine,Weill Cornell Medicine 0 0 0 0 1 0 0 1
Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde 0 0 0 0 1 0 0 1
Endocrine oncology group,Uppsala University 0 0 0 1 0 0 0 1
Laboratoire de Biologie et Génétique du Cancer,Centre François Baclesse 0 0 0 0 0 0 1 1
Medical Genetics Laboratory,Aldo Moro University of Bari 0 0 0 0 0 0 1 1
Herman Laboratory,Nationwide Children's Hospital 0 3 0 0 0 0 1 1
Yale Center for Mendelian Genomics,Yale University 0 1 0 1 0 0 0 1
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 0 12 0 0 1 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 2 0 0 1 0 1 1
Fundacion Hipercolesterolemia Familiar 0 0 0 0 1 0 0 1
Department of Medical Sciences,Uppsala University 0 1 0 0 0 0 1 1
Department of Obstetrics and Gynecology,Helsinki University Hospital 0 0 0 0 0 0 1 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 8 0 0 0 0 1 1
Yang An-Suei Laboratory,Academia Sinica 0 0 0 0 0 0 1 1
Institute of Cellular and Molecular Medicine,Copenhagen University 0 0 0 0 0 0 1 1
Flegel Lab,National Institutes of Health 0 0 0 0 0 0 1 1
Biologia e Medicina Molecolare, Sapienza University of Rome 0 0 0 0 0 0 1 1
Leiden Open Variation Database 0 0 0 1 0 0 0 1
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 0 0 0 0 0 0 1 1
Molecular Genetics Laboratory,State University of Campinas 0 0 0 0 0 0 1 1
Emory University School of Medicine, Department of Human Genetics,Emory University 0 0 0 0 0 0 1 1
Clinical genetics,CHU Grenoble-Alpes 0 0 0 0 0 0 1 1
Translational Research Program on Neuronal Ceroid Lipofuscinosis,Center for the Study of Inborn Errors of Metabolism 0 0 0 0 0 0 1 1
Caldovic Lab,Children's National Health System 0 0 0 0 0 0 1 1
Reproductive Development, Murdoch Childrens Research Institute 0 0 0 0 0 0 1 1
Laboratory of Molecular Neuropathology,The University of Texas Health Science Center at Houston 0 0 0 0 0 0 1 1
Department of Genetic, Henri Mondor Hospital,Assistance Publique des Hôpitaux de Paris 0 0 0 0 0 0 1 1
Pediatric Immunology Service,The Chaim Sheba Medical Center at Tel HaShomer 0 1 0 0 1 0 0 1
Hb Lab, Kinderklinik Ulm,University Hospital Ulm 0 0 0 0 0 0 1 1
Dept. of Medical Genetics, Telemark Hospital Trust 0 2 0 0 0 0 1 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 0 0 0 1 1
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano 0 0 0 0 1 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 8 0 0 0 0 1 1
Raymond Lab,University of Cambridge 0 0 0 0 0 0 1 1
Cancer Variant Interpretation Group UK,Institute of Cancer Research, London 0 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 5 0 1 0 0 0 1
Lab. Molecular Oncology,VUB, Free University of Brussels 0 0 0 0 1 0 0 1
Dr. Alfred Bastarche Laboratory,Dr. Georges L. Dumont University Hospital Centre 0 0 0 0 0 0 1 1
Core Molecular Diagnostic Lab, McGill University Health Centre 0 0 0 1 0 0 0 1
Mayo Clinic Genomics Laboratory,Mayo Clinic 0 0 0 0 0 0 1 1
Molecular Pathology Diagnostics Labratory,University of Iowa Hospitals & Clinics 0 0 0 0 0 0 1 1
ClinGen CDH1 Variant Curation Expert Panel 0 1 0 1 0 0 0 1
Genetic Diseases Diagnostic Center,Koc University Hospital 0 0 0 0 0 0 1 1
Inherited Eye Disorders lab,UCL Institute of Ophthalmology 0 0 0 0 0 0 1 1
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne 0 21 0 1 0 0 0 1
Klaassen Lab,Charite University Medicine Berlin 0 1 0 0 1 0 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 0 1 0 0 0 0 1 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 13 0 1 0 0 0 1
Clinical Genetics Research Group,Karolinska Institutet 0 0 0 0 0 0 1 1
ClinGen TP53 Variant Curation Expert Panel,ClinGen 0 2 0 0 1 0 0 1
UT Southwestern Medical Center, UT Southwestern Medical Center 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 4775
Download table as spreadsheet
HGVS dbSNP
G6PD:c.1455-13T>C rs2071429
NC_000011.10:g.5225460A>C
NC_012920.1(MT-CO2):m.7637G>A rs1556423314
NC_012920.1(MT-CYB):m.15467A>G rs1569484723
NC_012920.1(MT-CYB):m.1619C>T rs1569483811
NC_012920.1(MT-ND4):m.10931T>C rs1569484408
NC_012920.1(MT-ND4L):m.10644G>A rs1569484385
NC_012920.1(MT-ND5):m.13528A>G rs55882959
NC_012920.1(MT-ND6):m.14633A>G rs1569484667
NC_012920.1:m.11778G>A rs199476112
NC_012920.1:m.14484T>C rs199476104
NC_012920.1:m.3460G>A rs199476118
NC_012920.1:m.8553C>T rs1569484219
NM_000016.5(ACADM):c.*39G>A rs17848065
NM_000016.5(ACADM):c.*77C>T rs143911981
NM_000016.5(ACADM):c.-34T>C rs59932454
NM_000016.5(ACADM):c.1161A>G (p.Val387=) rs1061337
NM_000016.5(ACADM):c.118+18T>A rs755405418
NM_000016.5(ACADM):c.1189T>A (p.Tyr397Asn) rs759158371
NM_000016.5(ACADM):c.1221_1222del (p.Arg408fs) rs875989860
NM_000016.5(ACADM):c.127G>A (p.Glu43Lys) rs147559466
NM_000016.5(ACADM):c.157C>T (p.Arg53Cys) rs398123072
NM_000016.5(ACADM):c.199T>C (p.Tyr67His) rs121434280
NM_000016.5(ACADM):c.216+10T>C rs2275378
NM_000016.5(ACADM):c.250C>T (p.Leu84Phe) rs762114560
NM_000016.5(ACADM):c.347G>A (p.Cys116Tyr) rs875989859
NM_000016.5(ACADM):c.351A>C (p.Thr117=) rs74090726
NM_000016.5(ACADM):c.362C>T (p.Thr121Ile) rs121434283
NM_000016.5(ACADM):c.387+1del rs786204424
NM_000016.5(ACADM):c.388-3T>G rs764942250
NM_000016.5(ACADM):c.395C>G (p.Pro132Arg) rs875989854
NM_000016.5(ACADM):c.443G>A (p.Arg148Lys) rs778906552
NM_000016.5(ACADM):c.447G>T (p.Met149Ile) rs121434277
NM_000016.5(ACADM):c.469-9A>G rs181322317
NM_000016.5(ACADM):c.489T>G (p.Pro163=) rs78392995
NM_000016.5(ACADM):c.503A>C (p.Asp168Ala) rs745844469
NM_000016.5(ACADM):c.526G>A (p.Ala176Thr) rs200754053
NM_000016.5(ACADM):c.558T>A (p.Asn186Lys) rs754359356
NM_000016.5(ACADM):c.580A>G (p.Asn194Asp) rs773677327
NM_000016.5(ACADM):c.583G>A (p.Gly195Arg) rs121434278
NM_000016.5(ACADM):c.600-18G>A rs370523609
NM_000016.5(ACADM):c.616C>T (p.Arg206Cys) rs373715782
NM_000016.5(ACADM):c.678A>G (p.Ala226=) rs2229249
NM_000016.5(ACADM):c.683C>A (p.Thr228Asn) rs149678400
NM_000016.5(ACADM):c.698T>C (p.Ile233Thr) rs770273135
NM_000016.5(ACADM):c.757G>A (p.Glu253Lys) rs768884003
NM_000016.5(ACADM):c.797A>G (p.Asp266Gly) rs201375579
NM_000016.5(ACADM):c.799G>A (p.Gly267Arg) rs121434274
NM_000016.5(ACADM):c.817_829del (p.Ala273fs) rs875989872
NM_000016.5(ACADM):c.881G>C (p.Arg294Thr) rs779759347
NM_000016.5(ACADM):c.926dup (p.Gly310fs) rs875989864
NM_000016.5(ACADM):c.928G>A (p.Gly310Arg) rs747268471
NM_000016.5(ACADM):c.984del (p.Met328fs) rs747610156
NM_000016.5(ACADM):c.985A>G (p.Lys329Glu) rs77931234
NM_000016.6(ACADM):c.201T>A (p.Tyr67Ter)
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu) rs28941773
NM_000017.4(ACADS):c.360C>T (p.Asn120=) rs76543640
NM_000017.4(ACADS):c.511C>T (p.Arg171Trp) rs1800556
NM_000017.4(ACADS):c.625G>A (p.Gly209Ser) rs1799958
NM_000018.4(ACADVL):c.1019G>T (p.Gly340Val) rs934797393
NM_000018.4(ACADVL):c.1038G>A (p.Ala346=) rs8064573
NM_000018.4(ACADVL):c.1066A>G (p.Ile356Val) rs150140386
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys) rs771874163
NM_000018.4(ACADVL):c.1097G>A (p.Arg366His) rs112406105
NM_000018.4(ACADVL):c.1103A>C (p.Gln368Pro) rs776063244
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp) rs745832866
NM_000018.4(ACADVL):c.1182+1G>A rs113690956
NM_000018.4(ACADVL):c.1183-15A>G rs765390290
NM_000018.4(ACADVL):c.1226C>T (p.Thr409Met) rs113994169
NM_000018.4(ACADVL):c.1316G>A (p.Gly439Asp) rs533055438
NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp) rs2309689
NM_000018.4(ACADVL):c.1328T>G (p.Met443Arg) rs886043236
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His) rs118204016
NM_000018.4(ACADVL):c.1375C>T (p.Arg459Trp) rs766742117
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln) rs751995154
NM_000018.4(ACADVL):c.1388G>A (p.Gly463Glu) rs200366828
NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp) rs113994170
NM_000018.4(ACADVL):c.1473A>G (p.Leu491=) rs150518187
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp) rs146379816
NM_000018.4(ACADVL):c.1600G>A (p.Glu534Lys) rs2230180
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln) rs398123084
NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp) rs118204014
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617
NM_000018.4(ACADVL):c.194C>T (p.Pro65Leu) rs28934585
NM_000018.4(ACADVL):c.364A>G (p.Asn122Asp) rs1057520088
NM_000018.4(ACADVL):c.385_387GAG[1] (p.Glu130del) rs387906251
NM_000018.4(ACADVL):c.478-22_478-21del rs60400822
NM_000018.4(ACADVL):c.49C>T (p.Leu17Phe) rs2230179
NM_000018.4(ACADVL):c.520G>A (p.Val174Met) rs369560930
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr) rs727503791
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser) rs545215807
NM_000018.4(ACADVL):c.623-8C>T rs144996066
NM_000018.4(ACADVL):c.664G>A (p.Gly222Arg) rs398123091
NM_000018.4(ACADVL):c.68G>A (p.Arg23Gln) rs34153370
NM_000018.4(ACADVL):c.693T>A (p.Ser231=) rs77763289
NM_000018.4(ACADVL):c.779C>T (p.Thr260Met) rs113994168
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala) rs113994167
NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg) rs200788251
NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu) rs200573371
NM_000018.4(ACADVL):c.890_892AGA[2] (p.Lys299del) rs387906252
NM_000018.4(ACADVL):c.953C>T (p.Pro318Leu) rs201676770
NM_000020.2(ACVRL1):c.*58G>A rs182368657
NM_000020.2(ACVRL1):c.-52G>A rs573048639
NM_000020.2(ACVRL1):c.1055C>A (p.Ala352Asp) rs1085307415
NM_000020.2(ACVRL1):c.1131A>G (p.Ala377=) rs61734313
NM_000020.2(ACVRL1):c.1135G>A (p.Glu379Lys) rs1131691686
NM_000020.2(ACVRL1):c.1219G>A (p.Glu407Lys) rs1057521203
NM_000020.2(ACVRL1):c.1313T>C (p.Met438Thr) rs1555153828
NM_000020.2(ACVRL1):c.1377+45T>C rs706815
NM_000020.2(ACVRL1):c.1435C>T (p.Arg479Ter) rs1057517944
NM_000020.2(ACVRL1):c.1445C>T (p.Ala482Val) rs139142865
NM_000020.2(ACVRL1):c.207C>T (p.Cys69=) rs56080682
NM_000020.2(ACVRL1):c.330G>A (p.Ser110=) rs77341011
NM_000020.2(ACVRL1):c.642C>T (p.Gly214=) rs139008591
NM_000020.2(ACVRL1):c.747G>A (p.Val249=) rs1058563
NM_000020.2(ACVRL1):c.914C>T (p.Ser305Phe) rs1555153126
NM_000020.2(ACVRL1):c.955G>C (p.Gly319Arg) rs1085307414
NM_000022.2(ADA):c.22G>A (p.Asp8Asn) rs73598374
NM_000022.4(ADA):c.239A>G (p.Lys80Arg) rs11555566
NM_000022.4(ADA):c.390G>A (p.Val130=) rs61737144
NM_000022.4(ADA):c.632G>A (p.Arg211His) rs121908716
NM_000023.4(SGCA):c.528C>T (p.Thr176=) rs1801190
NM_000033.4(ABCD1):c.1866-10G>A rs398123108
NM_000033.4(ABCD1):c.1876G>A (p.Ala626Thr) rs1557055316
NM_000033.4(ABCD1):c.258C>T (p.Val86=) rs200660869
NM_000033.4(ABCD1):c.38A>C (p.Asn13Thr) rs183021839
NM_000033.4(ABCD1):c.50G>A (p.Arg17His) rs782693577
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val) rs150151955
NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp) rs782083931
NM_000037.4(ANK1):c.1782C>A (p.Ser594=) rs61753679
NM_000037.4(ANK1):c.183G>C (p.Val61=) rs61753680
NM_000037.4(ANK1):c.2211C>G (p.Pro737=) rs34194642
NM_000037.4(ANK1):c.3033C>T (p.Ser1011=) rs61758866
NM_000037.4(ANK1):c.3224C>T (p.Thr1075Ile) rs35213384
NM_000037.4(ANK1):c.4008G>A (p.Pro1336=) rs147536061
NM_000037.4(ANK1):c.4448T>G (p.Leu1483Arg)
NM_000037.4(ANK1):c.5395-1162C>A
NM_000037.4(ANK1):c.5544+91C>T rs72638959
NM_000037.4(ANK1):c.654C>A (p.Asn218Lys) rs61735313
NM_000038.5(APC):c.-30407C>T rs115658307
NM_000038.6(APC):c.1458T>C (p.Tyr486=) rs2229992
NM_000038.6(APC):c.1604C>T (p.Ser535Phe) rs75870842
NM_000038.6(APC):c.1635G>A (p.Ala545=) rs351771
NM_000038.6(APC):c.1695A>G (p.Glu565=) rs77921116
NM_000038.6(APC):c.1866C>A (p.Tyr622Ter) rs876658355
NM_000038.6(APC):c.1958+8T>C rs62626346
NM_000038.6(APC):c.1959G>A (p.Arg653=) rs72541809
NM_000038.6(APC):c.2232T>G (p.Ser744=) rs145751759
NM_000038.6(APC):c.2608C>T (p.Pro870Ser) rs33974176
NM_000038.6(APC):c.2626C>T (p.Arg876Ter) rs121913333
NM_000038.6(APC):c.2805C>T (p.Tyr935=) rs137854575
NM_000038.6(APC):c.295C>T (p.Arg99Trp) rs139196838
NM_000038.6(APC):c.311C>G (p.Ser104Ter) rs74953290
NM_000038.6(APC):c.3165A>T (p.Ile1055=) rs61734287
NM_000038.6(APC):c.3374T>C (p.Val1125Ala) rs377278397
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser) rs143638171
NM_000038.6(APC):c.3462_3464AGA[2] (p.Glu1157del) rs386833391
NM_000038.6(APC):c.3471G>A (p.Glu1157=) rs143927847
NM_000038.6(APC):c.3511C>T (p.Arg1171Cys) rs201830995
NM_000038.6(APC):c.3732A>G (p.Gln1244=) rs74380081
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166
NM_000038.6(APC):c.4326T>A (p.Pro1442=) rs67622085
NM_000038.6(APC):c.4420G>A (p.Ala1474Thr) rs139387758
NM_000038.6(APC):c.4479G>A (p.Thr1493=) rs41115
NM_000038.6(APC):c.4732T>G (p.Cys1578Gly) rs138367627
NM_000038.6(APC):c.4905G>A (p.Gly1635=) rs137988845
NM_000038.6(APC):c.5034G>A (p.Gly1678=) rs42427
NM_000038.6(APC):c.5250C>G (p.Val1750=) rs2229997
NM_000038.6(APC):c.5265G>A (p.Ala1755=) rs34506289
NM_000038.6(APC):c.5268T>G (p.Ser1756=) rs866006
NM_000038.6(APC):c.5465T>A (p.Val1822Asp) rs459552
NM_000038.6(APC):c.5880G>A (p.Pro1960=) rs465899
NM_000038.6(APC):c.6669A>G (p.Ser2223=) rs372680843
NM_000038.6(APC):c.6821C>T (p.Ala2274Val) rs34919187
NM_000038.6(APC):c.6921G>A (p.Ser2307=) rs2229993
NM_000038.6(APC):c.705A>G (p.Leu235=) rs147036141
NM_000038.6(APC):c.70C>T (p.Arg24Ter) rs145945630
NM_000038.6(APC):c.7201C>T (p.Leu2401=) rs2229994
NM_000038.6(APC):c.721G>A (p.Glu241Lys) rs777603154
NM_000038.6(APC):c.7415C>T (p.Ala2472Val) rs200399245
NM_000038.6(APC):c.7504G>A (p.Gly2502Ser) rs2229995
NM_000038.6(APC):c.7514G>A (p.Arg2505Gln) rs147549623
NM_000038.6(APC):c.7704A>G (p.Gly2568=) rs35043160
NM_000038.6(APC):c.7786T>G (p.Ser2596Ala) rs138137162
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys) rs72541816
NM_000038.6(APC):c.933+30A>G rs145211300
NM_000051.3(ATM):c.1066-6T>G rs201686625
NM_000051.3(ATM):c.1229T>C (p.Val410Ala) rs56128736
NM_000051.3(ATM):c.1254A>G (p.Gln418=) rs4987943
NM_000051.3(ATM):c.146C>G (p.Ser49Cys) rs1800054
NM_000051.3(ATM):c.1541G>A (p.Gly514Asp) rs2235000
NM_000051.3(ATM):c.162T>C (p.Tyr54=) rs3218690
NM_000051.3(ATM):c.1810C>T (p.Pro604Ser) rs2227922
NM_000051.3(ATM):c.1986T>C (p.Phe662=) rs1800055
NM_000051.3(ATM):c.2119T>C (p.Ser707Pro) rs4986761
NM_000051.3(ATM):c.2251-10T>G rs730881346
NM_000051.3(ATM):c.2572T>C (p.Phe858Leu) rs1800056
NM_000051.3(ATM):c.2921+1G>A rs587781558
NM_000051.3(ATM):c.3118A>G (p.Met1040Val) rs3092857
NM_000051.3(ATM):c.370A>G (p.Ile124Val) rs148590073
NM_000051.3(ATM):c.378T>A (p.Asp126Glu) rs2234997
NM_000051.3(ATM):c.3925G>A (p.Ala1309Thr) rs149711770
NM_000051.3(ATM):c.3993+5G>T rs3092842
NM_000051.3(ATM):c.4138C>T (p.His1380Tyr) rs3092856
NM_000051.3(ATM):c.4258C>T (p.Leu1420Phe) rs1800058
NM_000051.3(ATM):c.4362A>C (p.Lys1454Asn) rs148993589
NM_000051.3(ATM):c.4388T>G (p.Phe1463Cys) rs138327406
NM_000051.3(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941
NM_000051.3(ATM):c.4578C>T (p.Pro1526=) rs1800889
NM_000051.3(ATM):c.5071A>C (p.Ser1691Arg) rs1800059
NM_000051.3(ATM):c.5497-8T>C rs3092829
NM_000051.3(ATM):c.5557G>A (p.Asp1853Asn) rs1801516
NM_000051.3(ATM):c.5558A>T (p.Asp1853Val) rs1801673
NM_000051.3(ATM):c.5793T>C (p.Ala1931=) rs3092910
NM_000051.3(ATM):c.6088A>G (p.Ile2030Val) rs145847315
NM_000051.3(ATM):c.609C>T (p.Asp203=) rs144709948
NM_000051.3(ATM):c.6235G>A (p.Val2079Ile) rs1800060
NM_000051.3(ATM):c.6382T>C (p.Leu2128=) rs753646931
NM_000051.3(ATM):c.6437G>C (p.Ser2146Thr) rs56815840
NM_000051.3(ATM):c.7271T>G (p.Val2424Gly) rs28904921
NM_000051.3(ATM):c.735C>T (p.Val245=) rs3218674
NM_000051.3(ATM):c.7475T>G (p.Leu2492Arg) rs56399857
NM_000051.3(ATM):c.7618G>A (p.Val2540Ile) rs35203200
NM_000051.3(ATM):c.7788+8G>T rs112775908
NM_000051.3(ATM):c.8122G>A (p.Asp2708Asn) rs587782719
NM_000051.3(ATM):c.9006C>T (p.Phe3002=) rs540172506
NM_000051.3(ATM):c.998C>T (p.Ser333Phe) rs28904919
NM_000052.7(ATP7A):c.1737A>G (p.Val579=) rs189353691
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly) rs138958687
NM_000052.7(ATP7A):c.4414C>T (p.Arg1472Cys)
NM_000053.4(ATP7B):c.*15C>T rs73498144
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala) rs1801243
NM_000053.4(ATP7B):c.1278C>T (p.Val426=) rs143556945
NM_000053.4(ATP7B):c.1366G>C (p.Val456Leu) rs1801244
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=) rs145798966
NM_000053.4(ATP7B):c.1707+2dup
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) rs121907998
NM_000053.4(ATP7B):c.1993A>G (p.Met665Val) rs146303208
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259
NM_000053.4(ATP7B):c.19_20del (p.Gln7fs) rs749363958
NM_000053.4(ATP7B):c.2072G>T (p.Gly691Val) rs1555291801
NM_000053.4(ATP7B):c.2294A>G (p.Asp765Gly) rs1555291147
NM_000053.4(ATP7B):c.2305A>G (p.Met769Val) rs193922103
NM_000053.4(ATP7B):c.2544C>T (p.Gly848=) rs200996053
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027
NM_000053.4(ATP7B):c.2731-2A>G rs367956522
NM_000053.4(ATP7B):c.2855G>A (p.Arg952Lys) rs732774
NM_000053.4(ATP7B):c.2866-13G>C rs7325983
NM_000053.4(ATP7B):c.2955C>T (p.Cys985=) rs116587608
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782
NM_000053.4(ATP7B):c.2973G>A (p.Thr991=) rs1801246
NM_000053.4(ATP7B):c.3009G>A (p.Ala1003=) rs1801247
NM_000053.4(ATP7B):c.3015C>T (p.Asn1005=) rs74085888
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=) rs1801248
NM_000053.4(ATP7B):c.3060+16G>T rs76163470
NM_000053.4(ATP7B):c.3101A>G (p.His1034Arg) rs74085882
NM_000053.4(ATP7B):c.314C>A (p.Ser105Ter) rs753236073
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala) rs374094065
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln) rs76151636
NM_000053.4(ATP7B):c.3263T>A (p.Leu1088Ter) rs753250853
NM_000053.4(ATP7B):c.3272G>A (p.Cys1091Tyr) rs778825095
NM_000053.4(ATP7B):c.3369G>A (p.Pro1123=) rs61733679
NM_000053.4(ATP7B):c.3403G>A (p.Ala1135Thr) rs187200982
NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala) rs1801249
NM_000053.4(ATP7B):c.352G>A (p.Asp118Asn) rs769655497
NM_000053.4(ATP7B):c.3557-6C>T rs140708492
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg) rs7334118
NM_000053.4(ATP7B):c.3646G>A (p.Val1216Met) rs776280797
NM_000053.4(ATP7B):c.3649_3654del (p.Val1217_Leu1218del) rs781266802
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val) rs200911496
NM_000053.4(ATP7B):c.3786C>T (p.Val1262=) rs375007352
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile) rs148399850
NM_000053.4(ATP7B):c.3891C>T (p.Val1297=) rs114771537
NM_000053.4(ATP7B):c.3903+6C>T rs2282057
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser) rs181250704
NM_000053.4(ATP7B):c.4213G>A (p.Gly1405Ser) rs189601972
NM_000053.4(ATP7B):c.4311G>A (p.Lys1437=) rs73202048
NM_000053.4(ATP7B):c.628A>G (p.Ile210Val) rs61733680
NM_000059.3(BRCA2):c.*105A>C rs15869
NM_000059.3(BRCA2):c.*14C>T rs373436334
NM_000059.3(BRCA2):c.-11C>T rs76874770
NM_000059.3(BRCA2):c.-15A>C rs138705202
NM_000059.3(BRCA2):c.10076A>G (p.Glu3359Gly) rs80358389
NM_000059.3(BRCA2):c.10110G>A (p.Arg3370=) rs28897762
NM_000059.3(BRCA2):c.10111A>G (p.Thr3371Ala) rs80358393
NM_000059.3(BRCA2):c.10202C>T (p.Thr3401Met) rs55853199
NM_000059.3(BRCA2):c.10203G>A (p.Thr3401=) rs147854265
NM_000059.3(BRCA2):c.1021T>C (p.Cys341Arg) rs55833327
NM_000059.3(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426
NM_000059.3(BRCA2):c.10240A>G (p.Thr3414Ala) rs80358405
NM_000059.3(BRCA2):c.1040A>G (p.Gln347Arg) rs55800493
NM_000059.3(BRCA2):c.1114A>C (p.Asn372His) rs144848
NM_000059.3(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475
NM_000059.3(BRCA2):c.1167G>A (p.Pro389=) rs148607710
NM_000059.3(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046
NM_000059.3(BRCA2):c.1275A>G (p.Glu425=) rs34355306
NM_000059.3(BRCA2):c.1362A>G (p.Lys454=) rs55919657
NM_000059.3(BRCA2):c.1395A>C (p.Val465=) rs11571641
NM_000059.3(BRCA2):c.1460C>A (p.Ala487Glu) rs56390402
NM_000059.3(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708
NM_000059.3(BRCA2):c.1538A>G (p.Lys513Arg) rs28897709
NM_000059.3(BRCA2):c.1662T>G (p.Cys554Trp) rs80358451
NM_000059.3(BRCA2):c.175C>G (p.Pro59Ala) rs56091799
NM_000059.3(BRCA2):c.1786G>C (p.Asp596His) rs56328701
NM_000059.3(BRCA2):c.1788T>C (p.Asp596=) rs11571642
NM_000059.3(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710
NM_000059.3(BRCA2):c.1798T>C (p.Tyr600His) rs75419644
NM_000059.3(BRCA2):c.1813dupA (p.Ile605Asnfs) rs80359306
NM_000059.3(BRCA2):c.1889C>T (p.Thr630Ile) rs80358479
NM_000059.3(BRCA2):c.1909+22del rs276174816
NM_000059.3(BRCA2):c.1909+9_1909+10del rs527732001
NM_000059.3(BRCA2):c.1911T>C (p.Gly637=) rs11571652
NM_000059.3(BRCA2):c.1938C>T (p.Ser646=) rs28897711
NM_000059.3(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712
NM_000059.3(BRCA2):c.2025A>G (p.Thr675=) rs147381487
NM_000059.3(BRCA2):c.2138A>T (p.Gln713Leu) rs55816687
NM_000059.3(BRCA2):c.2208A>G (p.Ala736=) rs144984153
NM_000059.3(BRCA2):c.223G>C (p.Ala75Pro) rs28897701
NM_000059.3(BRCA2):c.231T>G (p.Thr77=) rs114446594
NM_000059.3(BRCA2):c.2320A>G (p.Thr774Ala) rs55968715
NM_000059.3(BRCA2):c.2350A>G (p.Met784Val) rs11571653
NM_000059.3(BRCA2):c.2538A>C (p.Ser846=) rs11571654
NM_000059.3(BRCA2):c.2786T>C (p.Leu929Ser) rs2227943
NM_000059.3(BRCA2):c.2803G>A (p.Asp935Asn) rs28897716
NM_000059.3(BRCA2):c.2803G>C (p.Asp935His) rs28897716
NM_000059.3(BRCA2):c.2817C>T (p.Thr939=) rs367921107
NM_000059.3(BRCA2):c.2883G>A (p.Gln961=) rs11571655
NM_000059.3(BRCA2):c.2919G>A (p.Ser973=) rs45525041
NM_000059.3(BRCA2):c.2926_2927delinsAT (p.Ser976Ile) rs276174831
NM_000059.3(BRCA2):c.2957A>G (p.Asn986Ser) rs28897718
NM_000059.3(BRCA2):c.2960A>T (p.Asn987Ile) rs2227944
NM_000059.3(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944
NM_000059.3(BRCA2):c.3055C>G (p.Leu1019Val) rs55638633
NM_000059.3(BRCA2):c.316+12A>G rs186419778
NM_000059.3(BRCA2):c.3264T>C (p.Pro1088=) rs36060526
NM_000059.3(BRCA2):c.3417G>A (p.Lys1139=) rs145625991
NM_000059.3(BRCA2):c.3420T>C (p.Ser1140=) rs118093942
NM_000059.3(BRCA2):c.343A>G (p.Lys115Glu) rs56242644
NM_000059.3(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600
NM_000059.3(BRCA2):c.3516G>A (p.Ser1172=) rs1799952
NM_000059.3(BRCA2):c.352C>T (p.Arg118Cys) rs375125172
NM_000059.3(BRCA2):c.3539A>G (p.Lys1180Arg) rs28897720
NM_000059.3(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer) rs80359388
NM_000059.3(BRCA2):c.3575T>G (p.Phe1192Cys) rs80358606
NM_000059.3(BRCA2):c.3661T>C (p.Ser1221Pro) rs80358611
NM_000059.3(BRCA2):c.3858_3860del (p.Lys1286del) rs80359406
NM_000059.3(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485
NM_000059.3(BRCA2):c.4054G>T (p.Asp1352Tyr) rs80358655
NM_000059.3(BRCA2):c.4068G>A (p.Leu1356=) rs28897724
NM_000059.3(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000059.3(BRCA2):c.4146_4148del rs80359432
NM_000059.3(BRCA2):c.4241C>T (p.Thr1414Met) rs70953664
NM_000059.3(BRCA2):c.425+33A>G rs200065709
NM_000059.3(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727
NM_000059.3(BRCA2):c.4258del (p.Asp1420fs) rs80359436
NM_000059.3(BRCA2):c.426-37T>A rs81002859
NM_000059.3(BRCA2):c.4271C>G (p.Ser1424Cys) rs80358664
NM_000059.3(BRCA2):c.4314C>T (p.Val1438=) rs730881590
NM_000059.3(BRCA2):c.440A>G (p.Gln147Arg) rs80358674
NM_000059.3(BRCA2):c.4462_4463CA[1] (p.His1488fs) rs397507720
NM_000059.3(BRCA2):c.4474_4477AAAG[1] (p.Glu1493fs) rs80359454
NM_000059.3(BRCA2):c.4534C>T (p.Arg1512Cys) rs80358684
NM_000059.3(BRCA2):c.4584C>T (p.Ser1528=) rs80359788
NM_000059.3(BRCA2):c.4585G>A (p.Gly1529Arg) rs28897728
NM_000059.3(BRCA2):c.4614T>C (p.Ser1538=) rs45520945
NM_000059.3(BRCA2):c.4656T>C (p.Gly1552=) rs41293491
NM_000059.3(BRCA2):c.467A>G (p.Asp156Gly) rs68071147
NM_000059.3(BRCA2):c.4681C>A (p.His1561Asn) rs2219594
NM_000059.3(BRCA2):c.4686A>G (p.Gln1562=) rs28897730
NM_000059.3(BRCA2):c.5035del (p.Thr1679fs) rs80359477
NM_000059.3(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561
NM_000059.3(BRCA2):c.516+18T>C rs81002834
NM_000059.3(BRCA2):c.516+21A>T rs11571622
NM_000059.3(BRCA2):c.517-19C>T rs11571623
NM_000059.3(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415
NM_000059.3(BRCA2):c.5199C>T (p.Ser1733=) rs28897734
NM_000059.3(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755
NM_000059.3(BRCA2):c.5414A>G (p.Asn1805Ser) rs80358765
NM_000059.3(BRCA2):c.5418A>G (p.Glu1806=) rs34351119
NM_000059.3(BRCA2):c.5427C>T (p.Cys1809=) rs80359791
NM_000059.3(BRCA2):c.5455C>T (p.Pro1819Ser) rs80358768
NM_000059.3(BRCA2):c.5495C>A (p.Ser1832Tyr) rs138489917
NM_000059.3(BRCA2):c.5498A>G (p.Asn1833Ser) rs587782601
NM_000059.3(BRCA2):c.5503A>G (p.Asn1835Asp) rs80358771
NM_000059.3(BRCA2):c.5552T>G (p.Ile1851Ser) rs80358776
NM_000059.3(BRCA2):c.5612G>A (p.Ser1871Asn) rs80358782
NM_000059.3(BRCA2):c.5635G>A (p.Glu1879Lys) rs55996097
NM_000059.3(BRCA2):c.5640T>G (p.Asn1880Lys) rs11571657
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048
NM_000059.3(BRCA2):c.5741G>C (p.Ser1914Thr) rs80358801
NM_000059.3(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117
NM_000059.3(BRCA2):c.5768A>C (p.Asp1923Ala) rs45491005
NM_000059.3(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375
NM_000059.3(BRCA2):c.5851_5854del (p.Ser1951fs) rs80359543
NM_000059.3(BRCA2):c.5864C>A (p.Ser1955Ter) rs80358815
NM_000059.3(BRCA2):c.5869A>G (p.Ile1957Val) rs80358817
NM_000059.3(BRCA2):c.5879G>A (p.Cys1960Tyr) rs56157628
NM_000059.3(BRCA2):c.5896C>T (p.His1966Tyr) rs80358822
NM_000059.3(BRCA2):c.5946del (p.Ser1982fs) rs80359550
NM_000059.3(BRCA2):c.5985C>T (p.Asn1995=) rs374620036
NM_000059.3(BRCA2):c.6037A>T (p.Lys2013Ter) rs80358840
NM_000059.3(BRCA2):c.6057C>T (p.Asn2019=) rs147961615
NM_000059.3(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954
NM_000059.3(BRCA2):c.6143A>T (p.Asn2048Ile) rs80358853
NM_000059.3(BRCA2):c.6220C>A (p.His2074Asn) rs34309943
NM_000059.3(BRCA2):c.6275_6276del (p.Leu2092fs) rs11571658
NM_000059.3(BRCA2):c.6323G>A (p.Arg2108His) rs35029074
NM_000059.3(BRCA2):c.6347A>G (p.His2116Arg) rs55953736
NM_000059.3(BRCA2):c.6405_6409del (p.Asn2135fs) rs80359584
NM_000059.3(BRCA2):c.6412G>T (p.Val2138Phe) rs11571659
NM_000059.3(BRCA2):c.6531T>A (p.Ile2177=) rs587780658
NM_000059.3(BRCA2):c.658_659del (p.Val220fs) rs80359604
NM_000059.3(BRCA2):c.67+62T>G rs11571574
NM_000059.3(BRCA2):c.68-7T>A rs81002830
NM_000059.3(BRCA2):c.6853A>G (p.Ile2285Val) rs56272235
NM_000059.3(BRCA2):c.6877T>C (p.Phe2293Leu) rs80358912
NM_000059.3(BRCA2):c.6921A>G (p.Ser2307=) rs181183366
NM_000059.3(BRCA2):c.6938-25_6938-19del rs762815401
NM_000059.3(BRCA2):c.6960G>A (p.Leu2320=) rs373134168
NM_000059.3(BRCA2):c.7007+18T>A rs377471435
NM_000059.3(BRCA2):c.7007G>A (p.Arg2336His) rs28897743
NM_000059.3(BRCA2):c.7017G>C (p.Lys2339Asn) rs45574331
NM_000059.3(BRCA2):c.7052C>G (p.Ala2351Gly) rs80358932
NM_000059.3(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008
NM_000059.3(BRCA2):c.7188G>T (p.Leu2396Phe) rs587780871
NM_000059.3(BRCA2):c.7317A>G (p.Gly2439=) rs587780660
NM_000059.3(BRCA2):c.7319A>G (p.His2440Arg) rs4986860
NM_000059.3(BRCA2):c.7397= (p.Ala2466=) rs169547
NM_000059.3(BRCA2):c.7397C>T (p.Ala2466Val) rs169547
NM_000059.3(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707
NM_000059.3(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624
NM_000059.3(BRCA2):c.7505G>A (p.Arg2502His) rs56070345
NM_000059.3(BRCA2):c.7522G>A (p.Gly2508Ser) rs80358978
NM_000059.3(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744
NM_000059.3(BRCA2):c.7626G>A (p.Thr2542=) rs61754138
NM_000059.3(BRCA2):c.7759C>T (p.Leu2587Phe) rs56335340
NM_000059.3(BRCA2):c.7805+6C>G rs81002819
NM_000059.3(BRCA2):c.7806-40A>G rs9590939
NM_000059.3(BRCA2):c.7976+12G>A rs81002827
NM_000059.3(BRCA2):c.7988A>T (p.Glu2663Val) rs80359031
NM_000059.3(BRCA2):c.8057T>C (p.Leu2686Pro) rs28897746
NM_000059.3(BRCA2):c.8092G>A (p.Ala2698Thr) rs80359052
NM_000059.3(BRCA2):c.8124T>G (p.Thr2708=) rs587780662
NM_000059.3(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747
NM_000059.3(BRCA2):c.8154T>C (p.Ile2718=) rs148880015
NM_000059.3(BRCA2):c.8167G>C (p.Asp2723His) rs41293511
NM_000059.3(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749
NM_000059.3(BRCA2):c.8421G>A (p.Ser2807=) rs371278843
NM_000059.3(BRCA2):c.8460A>C (p.Val2820=) rs9590940
NM_000059.3(BRCA2):c.8487+19A>G rs11571743
NM_000059.3(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746
NM_000059.3(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747
NM_000059.3(BRCA2):c.856T>C (p.Ser286Pro) rs80359111
NM_000059.3(BRCA2):c.865A>C (p.Asn289His) rs766173
NM_000059.3(BRCA2):c.8699A>T (p.Asp2900Val) rs398122712
NM_000059.3(BRCA2):c.8723T>G (p.Val2908Gly) rs28897753
NM_000059.3(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047
NM_000059.3(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000059.3(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769
NM_000059.3(BRCA2):c.8905G>A (p.Val2969Met) rs59004709
NM_000059.3(BRCA2):c.8917C>T (p.Arg2973Cys) rs45469092
NM_000059.3(BRCA2):c.9004G>A (p.Glu3002Lys) rs80359152
NM_000059.3(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755
NM_000059.3(BRCA2):c.9235G>A (p.Val3079Ile) rs55933907
NM_000059.3(BRCA2):c.9235del (p.Val3079fs) rs397507422
NM_000059.3(BRCA2):c.9253A>C (p.Thr3085Pro) rs397507423
NM_000059.3(BRCA2):c.9257-10dup rs276174919
NM_000059.3(BRCA2):c.9257-113T>G rs191553604
NM_000059.3(BRCA2):c.9257-16T>C rs11571818
NM_000059.3(BRCA2):c.9275A>G (p.Tyr3092Cys) rs80359195
NM_000059.3(BRCA2):c.927A>G (p.Ser309=) rs80359806
NM_000059.3(BRCA2):c.9284A>G (p.Asp3095Gly) rs1060502443
NM_000059.3(BRCA2):c.9292T>C (p.Tyr3098His) rs41293521
NM_000059.3(BRCA2):c.9493A>G (p.Thr3165Ala) rs587782568
NM_000059.3(BRCA2):c.9501+9A>C rs81002867
NM_000059.3(BRCA2):c.9509A>G (p.Asp3170Gly) rs80359224
NM_000059.3(BRCA2):c.9521A>G (p.Asn3174Ser) rs1555289773
NM_000059.3(BRCA2):c.9583A>G (p.Thr3195Ala) rs80359227
NM_000059.3(BRCA2):c.9586A>G (p.Lys3196Glu) rs80359228
NM_000059.3(BRCA2):c.9592T>C (p.Cys3198Arg) rs80359229
NM_000059.3(BRCA2):c.9634G>C (p.Gly3212Arg) rs55775473
NM_000059.3(BRCA2):c.9649-19G>A rs11571830
NM_000059.3(BRCA2):c.9649-20C>T rs56177715
NM_000059.3(BRCA2):c.9720T>C (p.Val3240=) rs80359810
NM_000059.3(BRCA2):c.9728C>T (p.Pro3243Leu) rs80359241
NM_000059.3(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831
NM_000059.3(BRCA2):c.9738C>T (p.Ala3246=) rs80359811
NM_000059.3(BRCA2):c.9770A>G (p.Lys3257Arg) rs55847618
NM_000059.3(BRCA2):c.978C>A (p.Ser326Arg) rs28897706
NM_000059.3(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817
NM_000059.3(BRCA2):c.9924C>T (p.Tyr3308=) rs4987049
NM_000059.3(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833
NM_000061.2(BTK):c.615G>T (p.Glu205Asp) rs35877704
NM_000071.2(CBS):c.1059G>A (p.Thr353=) rs61735859
NM_000071.2(CBS):c.1145+7C>T rs201158177
NM_000071.2(CBS):c.1643G>A (p.Arg548Gln) rs150828989
NM_000071.2(CBS):c.304A>C (p.Lys102Gln) rs34040148
NM_000071.2(CBS):c.531+11G>A rs186114513
NM_000071.2(CBS):c.573G>A (p.Thr191=) rs73906420
NM_000071.2(CBS):c.829-91G>A
NM_000071.2(CBS):c.954+8G>A rs76292057
NM_000071.2(CBS):c.959T>C (p.Val320Ala) rs781567152
NM_000074.2(CD40LG):c.-191A>C rs36206512
NM_000074.2(CD40LG):c.38C>T (p.Ala13Val) rs368003929
NM_000074.2(CD40LG):c.542G>C (p.Arg181Pro) rs11575982
NM_000074.2(CD40LG):c.655G>A (p.Gly219Arg) rs148594123
NM_000077.4(CDKN2A):c.146T>C (p.Ile49Thr) rs199907548
NM_000088.3(COL1A1):c.1300-8C>G rs41317361
NM_000088.3(COL1A1):c.1300-8C>T rs41317361
NM_000088.3(COL1A1):c.1583G>A (p.Arg528His) rs144751329
NM_000088.3(COL1A1):c.1615-4C>A rs41316657
NM_000088.3(COL1A1):c.1984-5C>A rs66592376
NM_000088.3(COL1A1):c.2115C>T (p.Asn705=) rs41316673
NM_000088.3(COL1A1):c.3479G>A (p.Gly1160Asp) rs886039726
NM_000088.3(COL1A1):c.3897C>T (p.Cys1299=) rs34940368
NM_000088.3(COL1A1):c.4179C>T (p.Ser1393=) rs1800219
NM_000088.3(COL1A1):c.4181A>G (p.Asn1394Ser) rs147266928
NM_000088.3(COL1A1):c.613C>G (p.Pro205Ala) rs72667032
NM_000088.3(COL1A1):c.904-9G>T rs141726413
NM_000089.3(COL1A2):c.1036-12A>G rs41316929
NM_000089.3(COL1A2):c.1036-14G>A rs114322680
NM_000089.3(COL1A2):c.122G>A (p.Arg41His) rs139528613
NM_000089.3(COL1A2):c.2123G>A (p.Arg708Gln) rs72658163
NM_000089.3(COL1A2):c.304C>T (p.Pro102Ser) rs189557655
NM_000089.3(COL1A2):c.3139G>A (p.Val1047Met) rs35820023
NM_000089.3(COL1A2):c.3336C>T (p.Tyr1112=) rs34691365
NM_000089.3(COL1A2):c.594+5A>T rs200744314
NM_000089.3(COL1A2):c.70+719_70+720del
NM_000089.3(COL1A2):c.82-12A>G rs143689469
NM_000089.3(COL1A2):c.948C>T (p.Gly316=) rs34511999
NM_000090.3(COL3A1):c.1188C>T (p.Gly396=) rs745743884
NM_000090.3(COL3A1):c.1550C>T (p.Pro517Leu) rs142085247
NM_000090.3(COL3A1):c.1804C>A (p.Pro602Thr) rs35795890
NM_000090.3(COL3A1):c.1815+5G>A rs146652498
NM_000090.3(COL3A1):c.1927T>C (p.Leu643=) rs41263757
NM_000090.3(COL3A1):c.1977+9C>T rs184223621
NM_000090.3(COL3A1):c.2002C>A (p.Pro668Thr) rs1801183
NM_000090.3(COL3A1):c.2002C>T (p.Pro668Ser) rs1801183
NM_000090.3(COL3A1):c.2056C>G (p.Pro686Ala) rs41263775
NM_000090.3(COL3A1):c.2805T>C (p.Pro935=) rs111567071
NM_000090.3(COL3A1):c.3061C>A (p.Leu1021Ile) rs139619440
NM_000090.3(COL3A1):c.3112G>C (p.Gly1038Arg) rs1559061706
NM_000090.3(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210
NM_000090.3(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783
NM_000090.3(COL3A1):c.812G>A (p.Arg271Gln) rs112185887
NM_000095.3(COMP):c.1668+13T>G rs74432818
NM_000095.3(COMP):c.218-14C>T rs150008764
NM_000095.3(COMP):c.2227+8G>A rs116499541
NM_000098.3(CPT2):c.1602G>A (p.Glu534=) rs148110518
NM_000098.3(CPT2):c.353A>G (p.Asp118Gly) rs148035648
NM_000108.5(DLD):c.249T>C (p.Val83=) rs2228664
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952
NM_000108.5(DLD):c.685-14T>A rs80111449
NM_000109.4(DMD):c.1700T>C (p.Leu567Pro) rs370644567
NM_000109.4(DMD):c.70-16dup rs3834997
NM_000109.4(DMD):c.7547G>A (p.Arg2516His) rs151244052
NM_000112.3(SLC26A2):c.1474C>T (p.Arg492Trp) rs78676079
NM_000112.3(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924
NM_000112.3(SLC26A2):c.2065A>T (p.Thr689Ser) rs3776070
NM_000112.3(SLC26A2):c.2087A>G (p.Asn696Ser) rs34351171
NM_000112.3(SLC26A2):c.655A>G (p.Ile219Val) rs35919114
NM_000112.3(SLC26A2):c.835C>T (p.Arg279Trp) rs104893915
NM_000112.3(SLC26A2):c.987T>C (p.Leu329=) rs116302615
NM_000117.2(EMD):c.272A>G (p.Asn91Ser) rs137977232
NM_000118.3(ENG):c.*190C>T rs181330955
NM_000118.3(ENG):c.-9G>A rs368423516
NM_000118.3(ENG):c.1029C>T (p.Thr343=) rs3739817
NM_000118.3(ENG):c.1060C>T (p.Leu354=) rs36092484
NM_000118.3(ENG):c.1096G>C (p.Asp366His) rs1800956
NM_000118.3(ENG):c.1195_1196del (p.Arg399fs) rs1131691422
NM_000118.3(ENG):c.120C>T (p.Gly40=) rs41522944
NM_000118.3(ENG):c.1273-5C>T rs779103881
NM_000118.3(ENG):c.1306C>T (p.Gln436Ter) rs1554809450
NM_000118.3(ENG):c.1374A>G (p.Pro458=) rs34828244
NM_000118.3(ENG):c.1419C>T (p.Ser473=) rs561818608
NM_000118.3(ENG):c.1447G>A (p.Val483Ile) rs141330288
NM_000118.3(ENG):c.1452C>T (p.Ser484=) rs115450389
NM_000118.3(ENG):c.1455G>A (p.Glu485=) rs150456852
NM_000118.3(ENG):c.14C>T (p.Thr5Met) rs35400405
NM_000118.3(ENG):c.1510G>A (p.Val504Met) rs116330805
NM_000118.3(ENG):c.1586G>A (p.Arg529His) rs863223538
NM_000118.3(ENG):c.1794T>C (p.Gly598=) rs41358947
NM_000118.3(ENG):c.1844C>T (p.Ser615Leu) rs148002300
NM_000118.3(ENG):c.1A>G (p.Met1Val) rs1060501418
NM_000118.3(ENG):c.207G>A (p.Leu69=) rs11545664
NM_000118.3(ENG):c.219+22C>T rs370257876
NM_000118.3(ENG):c.219G>A (p.Thr73=) rs755348996
NM_000118.3(ENG):c.392C>T (p.Pro131Leu) rs139398993
NM_000118.3(ENG):c.523G>T (p.Ala175Ser)
NM_000118.3(ENG):c.524-15C>T rs201463582
NM_000118.3(ENG):c.572G>A (p.Gly191Asp) rs41322046
NM_000118.3(ENG):c.617G>C (p.Gly206Ala) rs201393380
NM_000118.3(ENG):c.687C>T (p.Ala229=) rs376919650
NM_000118.3(ENG):c.788T>A (p.Ile263Asn) rs1085307431
NM_000119.3(EPB42):c.-51T>C rs16957499
NM_000119.3(EPB42):c.1408+4C>T rs45498491
NM_000119.3(EPB42):c.29C>T (p.Ser10Leu) rs77809780
NM_000119.3(EPB42):c.420G>A (p.Ala140=) rs1042168
NM_000119.3(EPB42):c.923-4A>G rs61343376
NM_000126.4(ETFA):c.512C>T (p.Thr171Ile) rs1801591
NM_000132.3(F8):c.*29C>T rs5986887
NM_000132.3(F8):c.102C>T (p.Asp34=) rs1800283
NM_000132.3(F8):c.1086G>A (p.Ala362=) rs1800289
NM_000132.3(F8):c.1648C>G (p.Arg550Gly) rs137852417
NM_000132.3(F8):c.1660A>G (p.Ser554Gly) rs137852419
NM_000132.3(F8):c.1866T>C (p.Leu622=)
NM_000132.3(F8):c.2149C>T (p.Arg717Trp) rs137852435
NM_000132.3(F8):c.2947G>A (p.Val983Ile) rs35295375
NM_000132.3(F8):c.2994T>G (p.His998Gln) rs149853218
NM_000132.3(F8):c.3637del (p.Ile1213fs) rs387906450
NM_000132.3(F8):c.389-9C>T rs35621875
NM_000132.3(F8):c.4500G>A (p.Pro1500=) rs33921347
NM_000132.3(F8):c.5422C>T (p.Leu1808Phe) rs137852445
NM_000133.3(F9):c.1025C>T (p.Thr342Met) rs137852254
NM_000133.3(F9):c.1095A>G (p.Ser365=) rs112057482
NM_000133.3(F9):c.1110G>A (p.Gln370=) rs34698779
NM_000133.3(F9):c.224G>A (p.Arg75Gln) rs137852228
NM_000133.3(F9):c.580A>G (p.Thr194Ala) rs6048
NM_000133.3(F9):c.835G>A (p.Ala279Thr) rs137852247
NM_000135.4(FANCA):c.1143G>T (p.Thr381=) rs1800331
NM_000135.4(FANCA):c.1226-2A>G rs773906241
NM_000135.4(FANCA):c.1235C>T (p.Ala412Val) rs11646374
NM_000135.4(FANCA):c.17T>A (p.Val6Asp) rs1800282
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751
NM_000135.4(FANCA):c.1927C>G (p.Pro643Ala) rs17232910
NM_000135.4(FANCA):c.2779-7T>C rs17233253
NM_000135.4(FANCA):c.2901C>T (p.Ser967=) rs17226980
NM_000135.4(FANCA):c.3067-4T>C rs17227064
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe) rs17233497
NM_000135.4(FANCA):c.3348+18A>G rs1800347
NM_000135.4(FANCA):c.3654A>G (p.Pro1218=) rs1800358
NM_000135.4(FANCA):c.3807G>C (p.Leu1269=) rs11649210
NM_000135.4(FANCA):c.3982A>G (p.Thr1328Ala) rs9282681
NM_000135.4(FANCA):c.894-8A>G rs11648881
NM_000136.3(FANCC):c.1345G>A (p.Val449Met) rs1800367
NM_000138.4(FBN1):c.-35C>T rs199781948
NM_000138.4(FBN1):c.1027G>A (p.Gly343Arg) rs146726731
NM_000138.4(FBN1):c.1029G>A (p.Gly343=) rs75655780
NM_000138.4(FBN1):c.1371C>G (p.Arg457=) rs25436
NM_000138.4(FBN1):c.1602T>C (p.Cys534=) rs377386372
NM_000138.4(FBN1):c.1633C>T (p.Arg545Cys) rs730880099
NM_000138.4(FBN1):c.1746C>T (p.Cys582=) rs112366266
NM_000138.4(FBN1):c.185G>A (p.Arg62His) rs145942328
NM_000138.4(FBN1):c.1948C>T (p.Arg650Cys) rs193922185
NM_000138.4(FBN1):c.1960+30G>A rs25459
NM_000138.4(FBN1):c.2148A>G (p.Gly716=) rs141039922
NM_000138.4(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000138.4(FBN1):c.2678-12T>C rs200368037
NM_000138.4(FBN1):c.2855-9C>T rs140590
NM_000138.4(FBN1):c.2858del (p.Ile953fs) rs1555398836
NM_000138.4(FBN1):c.2895G>A (p.Glu965=) rs140591
NM_000138.4(FBN1):c.2934C>G (p.Asp978Glu) rs138438849
NM_000138.4(FBN1):c.306C>T (p.Cys102=) rs25388
NM_000138.4(FBN1):c.3082+8del rs193922196
NM_000138.4(FBN1):c.3217G>A (p.Glu1073Lys) rs137854478
NM_000138.4(FBN1):c.3294C>T (p.Asp1098=) rs140587
NM_000138.4(FBN1):c.3463+3A>G rs80344206
NM_000138.4(FBN1):c.3509G>A (p.Arg1170His) rs137854475
NM_000138.4(FBN1):c.364C>T (p.Arg122Cys) rs137854467
NM_000138.4(FBN1):c.3797A>T (p.Tyr1266Phe) rs200283837
NM_000138.4(FBN1):c.3965-8T>C rs140637
NM_000138.4(FBN1):c.4214T>G (p.Leu1405Arg) rs767606368
NM_000138.4(FBN1):c.4441A>G (p.Ser1481Gly) rs61730054
NM_000138.4(FBN1):c.4460-8G>A rs193922204
NM_000138.4(FBN1):c.4683C>T (p.Ser1561=) rs148024160
NM_000138.4(FBN1):c.4905C>G (p.Thr1635=) rs113115949
NM_000138.4(FBN1):c.5065+10A>G rs375945405
NM_000138.4(FBN1):c.510C>T (p.Tyr170=) rs111671429
NM_000138.4(FBN1):c.5296+14G>A rs140650
NM_000138.4(FBN1):c.5343G>A (p.Val1781=) rs140649
NM_000138.4(FBN1):c.5874C>A (p.Cys1958Ter) rs1555395750
NM_000138.4(FBN1):c.5964C>T (p.Thr1988=) rs113022801
NM_000138.4(FBN1):c.6052G>A (p.Val2018Ile) rs363802
NM_000138.4(FBN1):c.6073G>T (p.Ala2025Ser) rs113577372
NM_000138.4(FBN1):c.6288C>T (p.Cys2096=) rs144822241
NM_000138.4(FBN1):c.6388G>A (p.Glu2130Lys) rs794728334
NM_000138.4(FBN1):c.6393C>T (p.Cys2131=) rs61730051
NM_000138.4(FBN1):c.6453C>T (p.Cys2151=) rs794728251
NM_000138.4(FBN1):c.6487G>T (p.Glu2163Ter) rs1555395191
NM_000138.4(FBN1):c.6577G>A (p.Glu2193Lys) rs201361628
NM_000138.4(FBN1):c.6594C>T (p.Pro2198=) rs111844882
NM_000138.4(FBN1):c.6658C>T (p.Arg2220Ter) rs113001196
NM_000138.4(FBN1):c.6661T>C (p.Cys2221Arg) rs113543334
NM_000138.4(FBN1):c.6681A>C (p.Ser2227=) rs363824
NM_000138.4(FBN1):c.6700G>A (p.Val2234Met) rs112084407
NM_000138.4(FBN1):c.6705A>C (p.Gly2235=) rs2229326
NM_000138.4(FBN1):c.6806T>C (p.Ile2269Thr) rs193922228
NM_000138.4(FBN1):c.6832C>T (p.Pro2278Ser) rs363835
NM_000138.4(FBN1):c.6987C>G (p.Asp2329Glu) rs363831
NM_000138.4(FBN1):c.7039_7040del (p.Met2347fs) rs794728319
NM_000138.4(FBN1):c.7072G>A (p.Val2358Ile) rs140537304
NM_000138.4(FBN1):c.7098C>T (p.Asp2366=) rs1005074
NM_000138.4(FBN1):c.7346A>G (p.Asn2449Ser) rs146166400
NM_000138.4(FBN1):c.7617C>T (p.Gly2539=) rs1388794275
NM_000138.4(FBN1):c.7656C>A (p.Cys2552Ter) rs1555394195
NM_000138.4(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054
NM_000138.4(FBN1):c.783T>C (p.Asn261=) rs113721547
NM_000138.4(FBN1):c.7994A>G (p.Asn2665Ser) rs763173031
NM_000138.4(FBN1):c.8149G>A (p.Glu2717Lys) rs187553035
NM_000138.4(FBN1):c.8283A>T (p.Thr2761=) rs146120912
NM_000138.4(FBN1):c.8502T>C (p.Thr2834=) rs363847
NM_000138.4(FBN1):c.986T>C (p.Ile329Thr) rs12324002
NM_000138.5(FBN1):c.7014C>T (p.Tyr2338=)
NM_000143.3(FH):c.1237-14_1237-9dup rs779985493
NM_000143.3(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000143.3(FH):c.53C>T (p.Pro18Leu) rs201887750
NM_000144.5(FXN):c.118C>T (p.Arg40Cys) rs145854903
NM_000144.5(FXN):c.54A>G (p.Pro18=) rs2481598
NM_000151.4(G6PC):c.113A>T (p.Asp38Val) rs104894565
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309
NM_000152.5(GAA):c.-32-13T>G rs386834236
NM_000152.5(GAA):c.1356C>T (p.Ala452=) rs757893858
NM_000152.5(GAA):c.1552-3C>G rs375470378
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser) rs1800307
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000152.5(GAA):c.2571G>T (p.Leu857=) rs17853996
NM_000152.5(GAA):c.2580C>T (p.Asp860=) rs61736894
NM_000152.5(GAA):c.258C>A (p.Pro86=) rs146615896
NM_000152.5(GAA):c.2647-8C>T rs139201641
NM_000152.5(GAA):c.271G>A (p.Asp91Asn) rs1800299
NM_000152.5(GAA):c.546+18G>A rs190153982
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys) rs111033814
NM_000155.4(GALT):c.1132A>G (p.Ile378Val) rs111033819
NM_000155.4(GALT):c.394C>T (p.His132Tyr) rs111033688
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690
NM_000155.4(GALT):c.452T>C (p.Val151Ala) rs111033701
NM_000155.4(GALT):c.512T>C (p.Phe171Ser) rs111033715
NM_000155.4(GALT):c.617A>G (p.Gln206Arg)
NM_000155.4(GALT):c.652C>T (p.Leu218=) rs2070075
NM_000155.4(GALT):c.772C>T (p.Arg258Cys) rs368166217
NM_000155.4(GALT):c.776G>A (p.Arg259Gln) rs886042070
NM_000155.4(GALT):c.812A>G (p.Glu271Gly) rs111033765
NM_000155.4(GALT):c.864C>T (p.Asn288=) rs372134800
NM_000155.4(GALT):c.876G>A (p.Thr292=) rs1055607
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000155.4(GALT):c.945T>C (p.His315=) rs61735982
NM_000155.4(GALT):c.997C>T (p.Arg333Trp) rs111033800
NM_000156.6(GAMT):c.503A>C (p.Tyr168Ser) rs1131691644
NM_000156.6(GAMT):c.626C>T (p.Thr209Met) rs17851582
NM_000158.4(GBE1):c.176T>C (p.Ile59Thr) rs28763904
NM_000166.6(GJB1):c.112G>A (p.Val38Met) rs879254012
NM_000166.6(GJB1):c.223C>T (p.Arg75Trp) rs116840819
NM_000166.6(GJB1):c.425G>A (p.Arg142Gln) rs786204123
NM_000166.6(GJB1):c.83T>A (p.Ile28Asn) rs768834663
NM_000168.6(GLI3):c.1243-40A>C rs77659679
NM_000168.6(GLI3):c.2835G>C (p.Leu945=) rs61758978
NM_000168.6(GLI3):c.3208A>T (p.Thr1070Ser) rs150907867
NM_000169.2(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000169.2(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000175.5(GPI):c.572A>G (p.His191Arg)
NM_000178.4(GSS):c.1253G>A (p.Arg418Gln) rs150141794
NM_000179.2(MSH6):c.-8C>T rs565211544
NM_000179.2(MSH6):c.1164C>T (p.His388=) rs55708305
NM_000179.2(MSH6):c.116G>A (p.Gly39Glu) rs1042821
NM_000179.2(MSH6):c.1186C>G (p.Leu396Val) rs2020908
NM_000179.2(MSH6):c.1508C>G (p.Ser503Cys) rs63750897
NM_000179.2(MSH6):c.1526T>C (p.Val509Ala) rs63751005
NM_000179.2(MSH6):c.1665A>G (p.Ala555=) rs146785465
NM_000179.2(MSH6):c.186C>A (p.Arg62=) rs1042820
NM_000179.2(MSH6):c.2161A>C (p.Arg721=) rs537604099
NM_000179.2(MSH6):c.2253T>C (p.Asn751=) rs2020913
NM_000179.2(MSH6):c.2272C>T (p.Leu758=) rs56371757
NM_000179.2(MSH6):c.2314C>A (p.Arg772=) rs63750138
NM_000179.2(MSH6):c.2398G>C (p.Val800Leu) rs61748083
NM_000179.2(MSH6):c.260+10T>G rs193922342
NM_000179.2(MSH6):c.260+22C>G rs55927047
NM_000179.2(MSH6):c.261-36A>G rs1800931
NM_000179.2(MSH6):c.2633T>C (p.Val878Ala) rs2020912
NM_000179.2(MSH6):c.276A>G (p.Pro92=) rs1800932
NM_000179.2(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000179.2(MSH6):c.3306T>A (p.Thr1102=) rs2020910
NM_000179.2(MSH6):c.3438+14A>T rs2020911
NM_000179.2(MSH6):c.3439-2A>G rs267608098
NM_000179.2(MSH6):c.3478G>T (p.Val1160Phe) rs376799914
NM_000179.2(MSH6):c.3725G>A (p.Arg1242His) rs63750119
NM_000179.2(MSH6):c.3729A>G (p.Thr1243=) rs773807182
NM_000179.2(MSH6):c.3801+17T>C rs3136365
NM_000179.2(MSH6):c.457+13A>G rs1800933
NM_000179.2(MSH6):c.457+52T>A rs3136282
NM_000179.2(MSH6):c.540T>C (p.Asp180=) rs1800935
NM_000179.2(MSH6):c.628-2A>G rs1114167725
NM_000179.2(MSH6):c.628-56C>T rs1800936
NM_000179.2(MSH6):c.642C>T (p.Tyr214=) rs1800937
NM_000179.2(MSH6):c.663A>C (p.Glu221Asp) rs41557217
NM_000179.2(MSH6):c.984C>T (p.Ser328=) rs138143769
NM_000180.3(GUCY2D):c.1093C>T (p.Arg365Trp) rs138836357
NM_000180.3(GUCY2D):c.1138C>T (p.Arg380Cys) rs775105018
NM_000180.3(GUCY2D):c.2101C>T (p.Pro701Ser) rs34598902
NM_000180.3(GUCY2D):c.61T>C (p.Trp21Arg) rs9905402
NM_000182.5(HADHA):c.589G>T (p.Ala197Ser) rs116320983
NM_000193.4(SHH):c.630C>T (p.Gly210=) rs9333634
NM_000203.5(IDUA):c.1345C>A (p.His449Asn) rs532731688
NM_000203.5(IDUA):c.314G>A (p.Arg105Gln) rs3755955
NM_000208.4(INSR):c.262T>C (p.Leu88=) rs61736580
NM_000215.3(JAK3):c.2164G>A (p.Val722Ile) rs3213409
NM_000219.6(KCNE1):c.173C>T (p.Thr58Ile) rs747321794
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000231.2(SGCG):c.347G>A (p.Arg116His) rs17314986
NM_000243.2(MEFV):c.*9C>T rs11466048
NM_000243.2(MEFV):c.-15C>G rs11466015
NM_000243.2(MEFV):c.1043G>A (p.Arg348His) rs104895198
NM_000243.2(MEFV):c.1092G>T (p.Pro364=) rs11466022
NM_000243.2(MEFV):c.1105C>T (p.Pro369Ser) rs11466023
NM_000243.2(MEFV):c.1223G>A (p.Arg408Gln) rs11466024
NM_000243.2(MEFV):c.124C>T (p.Arg42Trp) rs61754767
NM_000243.2(MEFV):c.1260+10C>T rs104895137
NM_000243.2(MEFV):c.1261-11T>G rs77086855
NM_000243.2(MEFV):c.1318C>G (p.Gln440Glu) rs11466026
NM_000243.2(MEFV):c.1370C>T (p.Ala457Val) rs104895151
NM_000243.2(MEFV):c.1422G>A (p.Glu474=) rs224208
NM_000243.2(MEFV):c.1428A>G (p.Gln476=) rs224207
NM_000243.2(MEFV):c.1437C>G (p.Phe479Leu) rs104895083
NM_000243.2(MEFV):c.1467G>A (p.Gln489=) rs61732424
NM_000243.2(MEFV):c.1518C>T (p.Ile506=) rs104895099
NM_000243.2(MEFV):c.1530T>C (p.Asp510=) rs224206
NM_000243.2(MEFV):c.1587+18C>T rs11466030
NM_000243.2(MEFV):c.1587+33C>G rs146820856
NM_000243.2(MEFV):c.1772T>C (p.Ile591Thr) rs11466045
NM_000243.2(MEFV):c.1803T>A (p.Ile601=) rs779572391
NM_000243.2(MEFV):c.2040G>A (p.Met680Ile) rs28940580
NM_000243.2(MEFV):c.2080A>G (p.Met694Val) rs61752717
NM_000243.2(MEFV):c.2082G>A (p.Met694Ile) rs28940578
NM_000243.2(MEFV):c.2084A>G rs104895094
NM_000243.2(MEFV):c.2118G>A (p.Pro706=) rs2234939
NM_000243.2(MEFV):c.2177T>C (p.Val726Ala) rs28940579
NM_000243.2(MEFV):c.2230G>T rs61732874
NM_000243.2(MEFV):c.2282G>A (p.Arg761His) rs104895097
NM_000243.2(MEFV):c.2292G>T (p.Gly764=) rs142352887
NM_000243.2(MEFV):c.250G>A (p.Glu84Lys) rs150819742
NM_000243.2(MEFV):c.297C>T (p.Asn99=) rs104895175
NM_000243.2(MEFV):c.306T>C (p.Asp102=) rs224225
NM_000243.2(MEFV):c.329T>C (p.Leu110Pro) rs11466018
NM_000243.2(MEFV):c.333G>A (p.Gly111=) rs61732425
NM_000243.2(MEFV):c.372C>T (p.Pro124=) rs104895078
NM_000243.2(MEFV):c.414A>G (p.Gly138=) rs224224
NM_000243.2(MEFV):c.42G>A (p.Glu14=) rs113314808
NM_000243.2(MEFV):c.442G>C (p.Glu148Gln) rs3743930
NM_000243.2(MEFV):c.443A>T (p.Glu148Val) rs104895076
NM_000243.2(MEFV):c.495C>A (p.Ala165=) rs224223
NM_000243.2(MEFV):c.501G>C (p.Glu167Asp) rs104895079
NM_000243.2(MEFV):c.549G>A (p.Pro183=) rs587781035
NM_000243.2(MEFV):c.585G>A (p.Glu195=) rs200766991
NM_000243.2(MEFV):c.586G>T (p.Gly196Trp) rs104895179
NM_000243.2(MEFV):c.605G>A (p.Arg202Gln) rs224222
NM_000243.2(MEFV):c.800C>T (p.Thr267Ile) rs104895081
NM_000243.2(MEFV):c.910G>A (p.Gly304Arg) rs75977701
NM_000243.2(MEFV):c.942C>T (p.Arg314=) rs224213
NM_000243.2(MEFV):c.97G>T (p.Val33Leu) rs11466016
NM_000243.2(MEFV):c.986G>A (p.Arg329His) rs104895112
NM_000244.3(MEN1):c.-22C>A rs374749001
NM_000244.3(MEN1):c.1185G>A (p.Pro395=) rs587780841
NM_000244.3(MEN1):c.1269C>T (p.Asp423=) rs2071313
NM_000244.3(MEN1):c.1311G>A (p.Leu437=) rs138770431
NM_000244.3(MEN1):c.1523G>A (p.Gly508Asp) rs375804228
NM_000244.3(MEN1):c.1636G>A (p.Ala546Thr) rs2959656
NM_000244.3(MEN1):c.1679G>A (p.Ser560Asn) rs863224527
NM_000244.3(MEN1):c.1A>G (p.Met1Val) rs386134250
NM_000244.3(MEN1):c.1A>T (p.Met1Leu) rs386134250
NM_000244.3(MEN1):c.30G>T (p.Leu10=) rs371192390
NM_000244.3(MEN1):c.430T>G (p.Phe144Val) rs1114167543
NM_000244.3(MEN1):c.435C>T (p.Ser145=) rs61736636
NM_000244.3(MEN1):c.527G>A (p.Arg176Gln) rs607969
NM_000244.3(MEN1):c.529G>T (p.Asp177Tyr) rs1114167494
NM_000244.3(MEN1):c.798+1G>A rs794728652
NM_000249.3(MLH1):c.1039-8T>A rs193922367
NM_000249.3(MLH1):c.1321G>A (p.Ala441Thr) rs63750365
NM_000249.3(MLH1):c.1410-54C>T rs7633154
NM_000249.3(MLH1):c.1517T>C (p.Val506Ala) rs63749909
NM_000249.3(MLH1):c.1558+14G>A rs41562513
NM_000249.3(MLH1):c.1668-19A>G rs9876116
NM_000249.3(MLH1):c.1959G>T (p.Leu653=) rs1800146
NM_000249.3(MLH1):c.207+2T>C rs267607722
NM_000249.3(MLH1):c.2146G>A (p.Val716Met) rs35831931
NM_000249.3(MLH1):c.2152C>T (p.His718Tyr) rs2020873
NM_000249.3(MLH1):c.375A>G (p.Ala125=) rs1800144
NM_000249.3(MLH1):c.637G>A (p.Val213Met) rs2308317
NM_000249.3(MLH1):c.655A>G (p.Ile219Val) rs1799977
NM_000249.3(MLH1):c.790+10A>G rs182733777
NM_000249.3(MLH1):c.977T>C (p.Val326Ala) rs63751049
NM_000251.2(MSH2):c.-118T>C rs2303425
NM_000251.2(MSH2):c.-68-34T>C rs17217709
NM_000251.2(MSH2):c.1077-10T>C rs17224360
NM_000251.2(MSH2):c.1275A>G (p.Glu425=) rs63751650
NM_000251.2(MSH2):c.1387-8G>T rs187525243
NM_000251.2(MSH2):c.1511-9A>T rs12998837
NM_000251.2(MSH2):c.1661+12G>A rs3732183
NM_000251.2(MSH2):c.1666T>C (p.Leu556=) rs61756466
NM_000251.2(MSH2):c.1737A>G (p.Lys579=) rs61756467
NM_000251.2(MSH2):c.2006-6T>C rs2303428
NM_000251.2(MSH2):c.211+9C>G rs2303426
NM_000251.2(MSH2):c.23C>T (p.Thr8Met) rs17217716
NM_000251.2(MSH2):c.2634+1G>A rs267608019
NM_000251.2(MSH2):c.339G>A (p.Lys113=) rs35898375
NM_000251.2(MSH2):c.380A>G (p.Asn127Ser) rs17217772
NM_000251.2(MSH2):c.382C>G (p.Leu128Val) rs145649774
NM_000251.2(MSH2):c.481G>A (p.Val161Ile) rs149511545
NM_000251.2(MSH2):c.4G>A (p.Ala2Thr) rs63750466
NM_000251.2(MSH2):c.573C>T (p.Leu191=) rs1800151
NM_000251.2(MSH2):c.646-11T>C rs879254124
NM_000251.2(MSH2):c.965G>A (p.Gly322Asp) rs4987188
NM_000251.2(MSH2):c.984C>T (p.Ala328=) rs4987189
NM_000251.3(MSH2):c.942+24_942+29del
NM_000254.2(MTR):c.1033G>A (p.Val345Ile) rs145006491
NM_000254.2(MTR):c.2756A>G (p.Asp919Gly) rs1805087
NM_000254.2(MTR):c.2815G>C (p.Gly939Arg) rs113042166
NM_000254.2(MTR):c.3079C>T (p.Arg1027Trp) rs116836001
NM_000254.2(MTR):c.858C>T (p.Pro286=) rs146019467
NM_000254.2(MTR):c.940G>A (p.Asp314Asn) rs2229274
NM_000255.4(MMUT):c.1495G>A (p.Ala499Thr) rs2229385
NM_000255.4(MMUT):c.1595G>A (p.Arg532His) rs1141321
NM_000255.4(MMUT):c.1629C>T (p.Ser543=) rs150642856
NM_000256.3(MYBPC3):c.1144C>T (p.Arg382Trp) rs11570076
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485
NM_000256.3(MYBPC3):c.2498C>T (p.Ala833Val) rs3729952
NM_000256.3(MYBPC3):c.2573G>A (p.Ser858Asn) rs727503185
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470
NM_000256.3(MYBPC3):c.2737+12C>T rs3729936
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser) rs193922380
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) rs11570112
NM_000256.3(MYBPC3):c.3285G>A (p.Thr1095=) rs367927327
NM_000256.3(MYBPC3):c.3288G>A (p.Glu1096=) rs1052373
NM_000256.3(MYBPC3):c.472G>A (p.Val158Met) rs3729986
NM_000256.3(MYBPC3):c.530G>A (p.Arg177His) rs201012766
NM_000256.3(MYBPC3):c.706A>G (p.Ser236Gly) rs3729989
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met) rs200119454
NM_000257.4(MYH7):c.1002C>T (p.Asn334=) rs34803781
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076
NM_000257.4(MYH7):c.2183C>T (p.Ala728Val) rs121913644
NM_000257.4(MYH7):c.2358G>A (p.Thr786=) rs36211714
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) rs376754645
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly) rs397516161
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496
NM_000257.4(MYH7):c.3351G>A (p.Glu1117=) rs45554236
NM_000257.4(MYH7):c.3853+7C>T rs45467397
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys) rs141764279
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys) rs3729823
NM_000257.4(MYH7):c.4566T>C (p.Thr1522=) rs2754155
NM_000257.4(MYH7):c.480C>T (p.Asn160=) rs45500700
NM_000257.4(MYH7):c.5361A>G (p.Glu1787=) rs201171029
NM_000257.4(MYH7):c.740T>G (p.Phe247Cys) rs730880922
NM_000257.4(MYH7):c.975C>T (p.Asp325=) rs2231124
NM_000258.2(MYL3):c.130-14G>T rs192329378
NM_000258.2(MYL3):c.427G>A (p.Glu143Lys) rs104893750
NM_000260.4(MYO7A):c.2035G>A (p.Val679Ile) rs35641839
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His) rs200641606
NM_000260.4(MYO7A):c.3828G>A (p.Ser1276=) rs78871677
NM_000260.4(MYO7A):c.4589C>T (p.Ser1530Leu) rs111033183
NM_000260.4(MYO7A):c.4619C>T (p.Ala1540Val) rs111033511
NM_000260.4(MYO7A):c.4620G>A (p.Ala1540=) rs41298745
NM_000260.4(MYO7A):c.47T>C (p.Leu16Ser) rs1052030
NM_000260.4(MYO7A):c.5156A>G (p.Tyr1719Cys) rs77625410
NM_000260.4(MYO7A):c.6240C>T (p.Ser2080=) rs41298757
NM_000260.4(MYO7A):c.6318G>A (p.Lys2106=) rs11237123
NM_000260.4(MYO7A):c.6559-11C>T rs34517202
NM_000260.4(MYO7A):c.689C>T (p.Ala230Val) rs797044512
NM_000267.3(NF1):c.*4T>C rs201044568
NM_000267.3(NF1):c.1296G>A (p.Val432=) rs371599283
NM_000267.3(NF1):c.1429T>C (p.Phe477Leu) rs1555612276
NM_000267.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557
NM_000267.3(NF1):c.1660C>T (p.Gln554Ter) rs953440640
NM_000267.3(NF1):c.168C>T (p.Ser56=) rs17881168
NM_000267.3(NF1):c.1748A>G (p.Lys583Arg) rs199474760
NM_000267.3(NF1):c.1810T>C (p.Leu604=) rs142712751
NM_000267.3(NF1):c.1846-12A>T rs188510882
NM_000267.3(NF1):c.1933A>G (p.Met645Val) rs146051850
NM_000267.3(NF1):c.2022C>T (p.Ser674=) rs2230851
NM_000267.3(NF1):c.2034G>A (p.Pro678=) rs2285892
NM_000267.3(NF1):c.2252-34T>C rs200937398
NM_000267.3(NF1):c.2288T>C (p.Leu763Pro) rs199474762
NM_000267.3(NF1):c.2339C>A (p.Thr780Lys) rs199474746
NM_000267.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_000267.3(NF1):c.2544G>A (p.Gly848=) rs17883704
NM_000267.3(NF1):c.2985G>C (p.Leu995=) rs17881467
NM_000267.3(NF1):c.3468C>T (p.Asn1156=) rs147955381
NM_000267.3(NF1):c.3496+19T>C rs9890283
NM_000267.3(NF1):c.3498C>T (p.Gly1166=) rs2066733
NM_000267.3(NF1):c.3826C>G (p.Arg1276Gly) rs199474742
NM_000267.3(NF1):c.3974+9T>A rs368586596
NM_000267.3(NF1):c.4180A>C (p.Asn1394His) rs1555618518
NM_000267.3(NF1):c.4514+1G>A rs1279529138
NM_000267.3(NF1):c.4537C>T (p.Arg1513Ter) rs760703505
NM_000267.3(NF1):c.4661+1G>A rs1555619056
NM_000267.3(NF1):c.4772+36T>C rs16972128
NM_000267.3(NF1):c.4819T>C (p.Leu1607=) rs10512435
NM_000267.3(NF1):c.4866G>A (p.Val1622=) rs17880521
NM_000267.3(NF1):c.4972A>G (p.Ile1658Val) rs147327414
NM_000267.3(NF1):c.4986C>T (p.Asn1662=) rs140994965
NM_000267.3(NF1):c.5172G>A (p.Lys1724=) rs17887014
NM_000267.3(NF1):c.528T>A (p.Asp176Glu) rs112306990
NM_000267.3(NF1):c.5425C>G (p.Arg1809Gly) rs797045139
NM_000267.3(NF1):c.5717del (p.Leu1906fs) rs1135402880
NM_000267.3(NF1):c.6084+8C>G rs182709912
NM_000267.3(NF1):c.61-4del rs551568608
NM_000267.3(NF1):c.6330C>T (p.His2110=) rs17881788
NM_000267.3(NF1):c.655-29T>C rs182325576
NM_000267.3(NF1):c.702G>A (p.Leu234=) rs1801052
NM_000267.3(NF1):c.7127-33TTGT[3] rs149197458
NM_000267.3(NF1):c.731-6A>C rs369366499
NM_000267.3(NF1):c.7394+21A>G rs17881641
NM_000267.3(NF1):c.7398A>G (p.Thr2466=) rs149924365
NM_000267.3(NF1):c.7692C>T (p.Ser2564=) rs17881980
NM_000267.3(NF1):c.7847G>A (p.Arg2616Gln) rs560262404
NM_000267.3(NF1):c.7908-8del rs564545012
NM_000267.3(NF1):c.846G>A (p.Gln282=) rs138840528
NM_000267.3(NF1):c.980T>C (p.Leu327Pro) rs201624827
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser) rs80358251
NM_000276.4(OCRL):c.561-7T>A rs376622194
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val) rs35719359
NM_000282.4(PCCA):c.1429+7A>G rs16957276
NM_000283.3(PDE6B):c.1060-13G>A rs147482093
NM_000283.3(PDE6B):c.496G>A (p.Glu166Lys) rs115775983
NM_000283.3(PDE6B):c.655T>C (p.Tyr219His) rs62295357
NM_000288.4(PEX7):c.339+10A>G rs374668045
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723
NM_000288.4(PEX7):c.615C>T (p.Asp205=) rs147298444
NM_000288.4(PEX7):c.748-5del rs563675060
NM_000289.6(PFKM):c.1338G>A (p.Gly446=) rs150378513
NM_000289.6(PFKM):c.1339C>A (p.Gln447Lys) rs145040928
NM_000289.6(PFKM):c.1342-14G>T rs56117548
NM_000289.6(PFKM):c.1500+32C>T rs41291967
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971
NM_000289.6(PFKM):c.246G>A (p.Thr82=) rs2228501
NM_000289.6(PFKM):c.306C>T (p.Ala102=) rs11552507
NM_000297.4(PKD2):c.1094+3_1094+6del rs1553925470
NM_000297.4(PKD2):c.1359A>G (p.Pro453=) rs17013754
NM_000297.4(PKD2):c.1445T>G (p.Phe482Cys) rs75762896
NM_000297.4(PKD2):c.1546G>T (p.Val516Leu) rs143581690
NM_000297.4(PKD2):c.1830G>A (p.Ala610=) rs144968710
NM_000297.4(PKD2):c.1898+5G>A rs1553926929
NM_000297.4(PKD2):c.2208_2213del (p.Leu736_Asn737del) rs778896252
NM_000297.4(PKD2):c.2295T>C (p.Asp765=) rs138982773
NM_000297.4(PKD2):c.2398A>C (p.Met800Leu) rs2234917
NM_000297.4(PKD2):c.2411G>A (p.Ser804Asn) rs145343957
NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln) rs147654263
NM_000297.4(PKD2):c.2720G>A (p.Arg907Gln) rs150947109
NM_000297.4(PKD2):c.420G>A (p.Gly140=) rs2728118
NM_000297.4(PKD2):c.444C>T (p.Gly148=) rs181704860
NM_000297.4(PKD2):c.481_502del (p.Gly161fs) rs1553923513
NM_000297.4(PKD2):c.568G>A (p.Ala190Thr) rs117078377
NM_000297.4(PKD2):c.570G>T (p.Ala190=) rs541702320
NM_000297.4(PKD2):c.83G>C (p.Arg28Pro) rs1805044
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp) rs1553925453
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile) rs8177988
NM_000298.6(PKLR):c.829G>A (p.Glu277Lys)
NM_000302.4(PLOD1):c.1023C>T (p.Gly341=) rs755056846
NM_000302.4(PLOD1):c.1141G>A (p.Val381Met) rs2230896
NM_000302.4(PLOD1):c.137G>A (p.Arg46His) rs142710681
NM_000302.4(PLOD1):c.1534C>T (p.Arg512Cys) rs138490756
NM_000302.4(PLOD1):c.1632A>C (p.Ala544=) rs2230898
NM_000302.4(PLOD1):c.177C>T (p.Gly59=) rs34032489
NM_000302.4(PLOD1):c.1788G>T (p.Val596=) rs35460537
NM_000302.4(PLOD1):c.1927G>A (p.Val643Ile) rs149425237
NM_000302.4(PLOD1):c.2124T>C (p.His708=) rs879690
NM_000302.4(PLOD1):c.2133C>G (p.Leu711=) rs879691
NM_000302.4(PLOD1):c.250G>A (p.Ala84Thr) rs34878020
NM_000302.4(PLOD1):c.303C>T (p.Ser101=) rs147980436
NM_000302.4(PLOD1):c.540G>A (p.Gln180=) rs35958757
NM_000302.4(PLOD1):c.555G>T (p.Lys185Asn) rs142978362
NM_000302.4(PLOD1):c.564G>C (p.Leu188Phe) rs201888323
NM_000302.4(PLOD1):c.76+17C>T rs113691754
NM_000302.4(PLOD1):c.804C>T (p.Thr268=) rs140758113
NM_000302.4(PLOD1):c.976-16C>T rs142329815
NM_000304.4(PMP22):c.307C>T (p.Gln103Ter) rs1567704621
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000311.5(PRNP):c.385A>G (p.Met129Val) rs1799990
NM_000314.6(PTEN):c.165-13_165-10delGTTT rs786204877
NM_000314.7(PTEN):c.-246C>T rs886047393
NM_000314.7(PTEN):c.-9C>G rs11202592
NM_000314.7(PTEN):c.1104T>C (p.Asp368=) rs35979531
NM_000314.7(PTEN):c.132C>T (p.Gly44=) rs150651961
NM_000314.7(PTEN):c.388C>T (p.Arg130Ter) rs121909224
NM_000314.7(PTEN):c.634+5G>C rs138336847
NM_000314.7(PTEN):c.78C>T (p.Thr26=) rs786201280
NM_000314.7(PTEN):c.79+35C>T rs190707033
NM_000314.7(PTEN):c.802-3del rs34003473
NM_000314.7(PTEN):c.802-51_802-14del rs557364463
NM_000316.3(PTH1R):c.1636G>A (p.Glu546Lys) rs77048718
NM_000316.3(PTH1R):c.357G>A (p.Pro119=) rs143692596
NM_000316.3(PTH1R):c.543+14T>C rs114449768
NM_000321.2(RB1):c.1390-14A>T rs9535023
NM_000326.5(RLBP1):c.795+15C>T rs181863443
NM_000326.5(RLBP1):c.9A>C (p.Glu3Asp)
NM_000327.3(ROM1):c.812T>C (p.Met271Thr) rs137950927
NM_000328.3(RPGR):c.141T>G (p.Ser47=) rs62638631
NM_000337.5(SGCD):c.213G>A (p.Arg71=) rs74846539
NM_000337.5(SGCD):c.290G>A (p.Arg97Gln) rs45559835
NM_000337.5(SGCD):c.543T>G (p.Pro181=) rs200451694
NM_000341.4(SLC3A1):c.1136+3del rs796262035
NM_000341.4(SLC3A1):c.892-6C>G rs114640930
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031
NM_000342.4(SLC4A1):c.113A>C (p.Asp38Ala) rs5035
NM_000342.4(SLC4A1):c.1314G>A (p.Ser438=) rs13306781
NM_000342.4(SLC4A1):c.1323G>A (p.Leu441=) rs5017
NM_000342.4(SLC4A1):c.166A>G (p.Lys56Glu) rs5036
NM_000342.4(SLC4A1):c.1878T>C (p.Asp626=) rs5020
NM_000342.4(SLC4A1):c.1937G>A (p.Arg646Gln) rs121912757
NM_000342.4(SLC4A1):c.1953C>T (p.His651=) rs5021
NM_000342.4(SLC4A1):c.2584G>A (p.Val862Ile) rs5026
NM_000342.4(SLC4A1):c.2688T>C (p.Asp896=) rs45497993
NM_000342.4(SLC4A1):c.539G>A (p.Arg180His) rs147390654
NM_000342.4(SLC4A1):c.924G>A (p.Leu308=) rs5013
NM_000346.4(SOX9):c.-169G>A rs115615437
NM_000346.4(SOX9):c.1023_1025GCC[4] (p.Pro346dup) rs776337541
NM_000346.4(SOX9):c.685+8G>A rs117696751
NM_000350.2(ABCA4):c.2588G>C rs76157638
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000350.3(ABCA4):c.1268A>G (p.His423Arg) rs3112831
NM_000350.3(ABCA4):c.1269C>T (p.His423=) rs4147831
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly) rs61754024
NM_000350.3(ABCA4):c.2646C>T (p.Gly882=) rs180921875
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581
NM_000350.3(ABCA4):c.2964C>T (p.Leu988=) rs61754034
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374
NM_000350.3(ABCA4):c.3899G>A (p.Arg1300Gln) rs61750129
NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile) rs56357060
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln) rs62646862
NM_000350.3(ABCA4):c.4610C>T (p.Thr1537Met) rs62642575
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val) rs62646863
NM_000350.3(ABCA4):c.5461-10T>C rs1800728
NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=) rs1801574
NM_000350.3(ABCA4):c.5814A>G (p.Leu1938=) rs4147857
NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=) rs2275029
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) rs61750641
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677
NM_000350.3(ABCA4):c.6282+7G>A rs17110761
NM_000350.3(ABCA4):c.635G>A (p.Arg212His) rs6657239
NM_000350.3(ABCA4):c.6529G>A (p.Asp2177Asn) rs1800555
NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile) rs6666652
NM_000350.3(ABCA4):c.981C>T (p.Pro327=) rs61753057
NM_000355.4(TCN2):c.1196G>A (p.Arg399Gln) rs4820889
NM_000355.4(TCN2):c.265T>C (p.Phe89Leu) rs35915865
NM_000355.4(TCN2):c.280G>A (p.Gly94Ser) rs11557600
NM_000355.4(TCN2):c.562C>T (p.Gln188Ter) rs1456983114
NM_000355.4(TCN2):c.921A>C (p.Pro307=) rs138738105
NM_000368.4(TSC1):c.-80-10T>C rs886063625
NM_000368.4(TSC1):c.1760A>G (p.Lys587Arg) rs118203576
NM_000368.4(TSC1):c.1794C>T (p.Ser598=) rs766438395
NM_000368.4(TSC1):c.1921C>T (p.Pro641Ser) rs374222196
NM_000368.4(TSC1):c.1974C>T (p.Asp658=) rs118203608
NM_000368.4(TSC1):c.1976C>T (p.Ala659Val) rs118203609
NM_000368.4(TSC1):c.1977G>A (p.Ala659=) rs35958226
NM_000368.4(TSC1):c.2646C>T (p.Ala882=) rs118203720
NM_000368.4(TSC1):c.2829C>T (p.Ala943=) rs4962081
NM_000368.4(TSC1):c.3184C>T (p.Arg1062Trp) rs118203745
NM_000368.4(TSC1):c.3282G>A (p.Glu1094=) rs116747861
NM_000368.4(TSC1):c.3303G>A (p.Glu1101=) rs118203751
NM_000368.4(TSC1):c.54G>C (p.Met18Ile) rs940292214
NM_000368.4(TSC1):c.965T>C (p.Met322Thr) rs1073123
NM_000371.3(TTR):c.*21C>A rs12226
NM_000371.3(TTR):c.238A>G (p.Thr80Ala) rs121918070
NM_000371.3(TTR):c.239C>T (p.Thr80Ile) rs1254341785
NM_000371.3(TTR):c.250T>C (p.Phe84Leu) rs121918091
NM_000371.3(TTR):c.265T>C (p.Tyr89His) rs121918100
NM_000371.3(TTR):c.328C>A (p.His110Asn) rs121918074
NM_000371.3(TTR):c.355G>A (p.Asp119Asn) rs76410435
NM_000371.3(TTR):c.360C>T (p.Ser120=) rs150127220
NM_000371.3(TTR):c.379A>G (p.Ile127Val) rs121918089
NM_000371.3(TTR):c.416C>T (p.Thr139Met) rs28933981
NM_000371.3(TTR):c.417G>A (p.Thr139=) rs2276382
NM_000384.3(APOB):c.8148C>T (p.Ile2716=) rs6413458
NM_000393.5(COL5A2):c.1006-9C>T rs73978832
NM_000393.5(COL5A2):c.1035G>C (p.Gly345=) rs148786600
NM_000393.5(COL5A2):c.1081A>C (p.Met361Leu) rs76148000
NM_000393.5(COL5A2):c.1301C>T (p.Thr434Met) rs145850743
NM_000393.5(COL5A2):c.1378C>T (p.Pro460Ser) rs35830636
NM_000393.5(COL5A2):c.1400C>T (p.Pro467Leu) rs115570272
NM_000393.5(COL5A2):c.1535T>C (p.Val512Ala) rs35852101
NM_000393.5(COL5A2):c.198T>C (p.Asn66=) rs76511879
NM_000393.5(COL5A2):c.2423C>T (p.Pro808Leu) rs575864379
NM_000393.5(COL5A2):c.2498C>T (p.Pro833Leu) rs116298748
NM_000393.5(COL5A2):c.2554-14A>G rs142429770
NM_000393.5(COL5A2):c.2562C>T (p.Asp854=) rs148430780
NM_000393.5(COL5A2):c.261G>A (p.Thr87=) rs142044596
NM_000393.5(COL5A2):c.322+8T>C rs372227642
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg) rs62184175
NM_000393.5(COL5A2):c.3690A>C (p.Thr1230=) rs10197596
NM_000393.5(COL5A2):c.370-16C>T rs148220961
NM_000393.5(COL5A2):c.3720T>C (p.Tyr1240=) rs10208525
NM_000393.5(COL5A2):c.4449C>T (p.Gly1483=) rs78905646
NM_000393.5(COL5A2):c.75A>G (p.Lys25=) rs549894501
NM_000393.5(COL5A2):c.906+10A>T rs776578452
NM_000398.7(CYB5R3):c.890G>A (p.Arg297His)
NM_000399.5(EGR2):c.1226G>A (p.Arg409Gln) rs864622273
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) rs5030869
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe) rs137852342
NM_000402.4(G6PD):c.1246A>G (p.Lys416Glu) rs137852320
NM_000402.4(G6PD):c.1268G>A (p.Arg423His) rs137852316
NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro) rs137852337
NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu) rs72554665
NM_000402.4(G6PD):c.1478G>A (p.Arg493His) rs72554664
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp) rs137852331
NM_000402.4(G6PD):c.632A>T (p.Asp211Val) rs5030872
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868
NM_000402.4(G6PD):c.770G>A (p.Arg257Gln) rs137852328
NM_000402.4(G6PD):c.934G>C (p.Asp312His) rs137852318
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327
NM_000404.4(GLB1):c.1306C>T (p.Leu436Phe) rs34421970
NM_000414.4(HSD17B4):c.1280C>T (p.Ala427Val) rs28943590
NM_000414.4(HSD17B4):c.1317A>G (p.Val439=) rs771922933
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr) rs137853097
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897
NM_000431.4(MVK):c.1139A>G (p.His380Arg) rs104895324
NM_000431.4(MVK):c.155G>A (p.Ser52Asn) rs7957619
NM_000431.4(MVK):c.238G>A (p.Val80Ile) rs76914224
NM_000431.4(MVK):c.371+8C>T rs67886029
NM_000431.4(MVK):c.381G>A (p.Pro127=) rs140397628
NM_000431.4(MVK):c.405G>A (p.Ser135=) rs34368092
NM_000431.4(MVK):c.510C>T (p.Asp170=) rs2287218
NM_000431.4(MVK):c.769-7T>G rs104895331
NM_000431.4(MVK):c.780C>A (p.Ile260=) rs34975996
NM_000431.4(MVK):c.831C>T (p.Arg277=) rs104895353
NM_000431.4(MVK):c.924C>T (p.Leu308=) rs72648042
NM_000432.3(MYL2):c.132T>C (p.Ile44=) rs2301610
NM_000435.3(NOTCH3):c.1140T>C (p.Pro380=) rs61749020
NM_000435.3(NOTCH3):c.120C>G (p.Ala40=) rs146904189
NM_000435.3(NOTCH3):c.1364G>A (p.Cys455Tyr) rs886041513
NM_000435.3(NOTCH3):c.1487C>T (p.Pro496Leu) rs11670799
NM_000435.3(NOTCH3):c.1490C>T (p.Ser497Leu) rs114207045
NM_000435.3(NOTCH3):c.1607-5C>A rs372869012
NM_000435.3(NOTCH3):c.1725G>A (p.Thr575=) rs79926127
NM_000435.3(NOTCH3):c.1782C>T (p.Gly594=) rs35793356
NM_000435.3(NOTCH3):c.2300G>A (p.Arg767His) rs75291244
NM_000435.3(NOTCH3):c.2411-4C>G rs190177286
NM_000435.3(NOTCH3):c.245G>T (p.Cys82Phe) rs1023306013
NM_000435.3(NOTCH3):c.2507C>T (p.Thr836Ile)
NM_000435.3(NOTCH3):c.3058G>C (p.Ala1020Pro) rs35769976
NM_000435.3(NOTCH3):c.3399C>A (p.His1133Gln) rs112197217
NM_000435.3(NOTCH3):c.3704A>T (p.His1235Leu) rs55882518
NM_000435.3(NOTCH3):c.3719-11C>T rs78907190
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) rs137852642
NM_000435.3(NOTCH3):c.4044C>T (p.Gly1348=) rs78926093
NM_000435.3(NOTCH3):c.436T>C (p.Cys146Arg) rs1555729510
NM_000435.3(NOTCH3):c.4552C>A (p.Leu1518Met) rs141320511
NM_000435.3(NOTCH3):c.4679G>C (p.Arg1560Pro) rs78501403
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys) rs28933696
NM_000435.3(NOTCH3):c.5200-4C>A
NM_000435.3(NOTCH3):c.5854G>A (p.Val1952Met) rs115582213
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys) rs775267348
NM_000435.3(NOTCH3):c.6237G>A (p.Gly2079=) rs376598183
NM_000435.3(NOTCH3):c.6813T>C (p.Pro2271=) rs61731974
NM_000436.4(OXCT1):c.112C>T (p.Arg38Cys) rs76956231
NM_000436.4(OXCT1):c.173C>T (p.Thr58Met) rs75134564
NM_000436.4(OXCT1):c.650G>T (p.Arg217Leu)
NM_000436.4(OXCT1):c.79-11del rs748715820
NM_000440.3(PDE6A):c.1086G>A (p.Ala362=) rs142259966
NM_000440.3(PDE6A):c.1546C>G (p.Leu516Val) rs61733362
NM_000440.3(PDE6A):c.84C>T (p.Tyr28=) rs34230349
NM_000441.1(SLC26A4):c.349C>T rs145254330
NM_000441.2(SLC26A4):c.1002-9A>C rs10234822
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) rs111033305
NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg) rs111033316
NM_000441.2(SLC26A4):c.1545-5T>G rs77944876
NM_000441.2(SLC26A4):c.1614+8C>T
NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val) rs111033423
NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly) rs17154335
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser) rs17154353
NM_000441.2(SLC26A4):c.279del (p.Ser93fs) rs786204421
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val) rs111033242
NM_000441.2(SLC26A4):c.796G>A (p.Asp266Asn) rs138462416
NM_000441.2(SLC26A4):c.84C>A (p.Ser28Arg) rs539699299
NM_000448.2(RAG1):c.2571C>T (p.Ala857=) rs141560248
NM_000448.2(RAG1):c.2880A>G (p.Ala960=) rs1980131
NM_000455.4(STK11):c.1062C>G (p.Phe354Leu) rs59912467
NM_000455.4(STK11):c.1167C>G (p.Ala389=) rs547919101
NM_000455.4(STK11):c.1211C>T (p.Ser404Phe) rs200078204
NM_000455.4(STK11):c.1284G>A (p.Ser428=) rs369097329
NM_000455.4(STK11):c.264C>A (p.Ile88=) rs56354945
NM_000455.4(STK11):c.369G>A (p.Gln123=) rs140112347
NM_000455.4(STK11):c.816C>T (p.Tyr272=) rs9282859
NM_000455.4(STK11):c.825G>A (p.Pro275=) rs202011521
NM_000455.4(STK11):c.945G>A (p.Pro315=) rs376329042
NM_000459.4(TEK):c.1346A>G (p.Asn449Ser)
NM_000459.4(TEK):c.3090G>A (p.Glu1030=) rs56133834
NM_000459.4(TEK):c.902-10C>T rs41272241
NM_000463.2(UGT1A1):c.-53_-52TA[6] rs3064744
NM_000465.3(BARD1):c.1518_1519invTG (p.Val507Met)
NM_000465.4(BARD1):c.1053G>C (p.Thr351=) rs2070096
NM_000465.4(BARD1):c.1075_1095del (p.Leu359_Pro365del) rs28997575
NM_000465.4(BARD1):c.1134G>C (p.Arg378Ser) rs2229571
NM_000465.4(BARD1):c.1518T>C (p.His506=) rs2070093
NM_000465.4(BARD1):c.1519G>A (p.Val507Met) rs2070094
NM_000465.4(BARD1):c.1670G>C (p.Cys557Ser) rs28997576
NM_000465.4(BARD1):c.1738G>A (p.Glu580Lys) rs35306212
NM_000465.4(BARD1):c.1933T>C (p.Cys645Arg) rs2228456
NM_000465.4(BARD1):c.1972C>T (p.Arg658Cys) rs3738888
NM_000465.4(BARD1):c.1977A>G (p.Arg659=) rs147215925
NM_000465.4(BARD1):c.2212A>G (p.Ile738Val) rs61754118
NM_000465.4(BARD1):c.70C>T (p.Pro24Ser) rs1048108
NM_000465.4(BARD1):c.722C>G (p.Ser241Cys) rs3738885
NM_000465.4(BARD1):c.90T>A (p.Gly30=) rs150354152
NM_000478.6(ALPL):c.1565T>C (p.Val522Ala) rs34605986
NM_000478.6(ALPL):c.455G>A (p.Arg152His) rs149344982
NM_000478.6(ALPL):c.472+12del rs35423948
NM_000478.6(ALPL):c.534C>T (p.Tyr178=) rs201250289
NM_000478.6(ALPL):c.978_980CTT[2] (p.Phe328del)
NM_000492.3(CFTR):c.-4G>C rs369326781
NM_000492.3(CFTR):c.-8G>C rs1800501
NM_000492.3(CFTR):c.1001G>A (p.Arg334Gln) rs397508137
NM_000492.3(CFTR):c.1040G>A (p.Arg347His) rs77932196
NM_000492.3(CFTR):c.1043T>A (p.Met348Lys) rs142920240
NM_000492.3(CFTR):c.1046C>T (p.Ala349Val) rs121909021
NM_000492.3(CFTR):c.1052C>G (p.Thr351Ser) rs1800086
NM_000492.3(CFTR):c.1054C>T (p.Arg352Trp) rs193922497
NM_000492.3(CFTR):c.1210-11T>G rs73715573
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.1210-12T[9] rs1805177
NM_000492.3(CFTR):c.1210-13G>T rs10229820
NM_000492.3(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190
NM_000492.3(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000492.3(CFTR):c.1516A>G (p.Ile506Val) rs1800091
NM_000492.3(CFTR):c.1519A>G (p.Ile507Val) rs1801178
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000492.3(CFTR):c.1523T>G (p.Phe508Cys) rs74571530
NM_000492.3(CFTR):c.1581A>G (p.Glu527=) rs1800094
NM_000492.3(CFTR):c.1584G>A (p.Glu528=) rs1800095
NM_000492.3(CFTR):c.1601C>A (p.Ala534Glu) rs387906368
NM_000492.3(CFTR):c.1624G>T (p.Gly542Ter) rs113993959
NM_000492.3(CFTR):c.1652G>A (p.Gly551Asp) rs75527207
NM_000492.3(CFTR):c.1666A>G (p.Ile556Val) rs75789129
NM_000492.3(CFTR):c.1684G>A (p.Val562Ile) rs1800097
NM_000492.3(CFTR):c.1684G>C (p.Val562Leu) rs1800097
NM_000492.3(CFTR):c.1727G>C (p.Gly576Ala) rs1800098
NM_000492.3(CFTR):c.1826A>G (p.His609Arg) rs397508310
NM_000492.3(CFTR):c.1920T>C (p.Phe640=) rs145877746
NM_000492.3(CFTR):c.1A>G (p.Met1Val) rs397508328
NM_000492.3(CFTR):c.2002C>T (p.Arg668Cys) rs1800100
NM_000492.3(CFTR):c.2055A>G (p.Gln685=) rs1457520634
NM_000492.3(CFTR):c.2173G>A (p.Glu725Lys) rs199791061
NM_000492.3(CFTR):c.220C>T (p.Arg74Trp) rs115545701
NM_000492.3(CFTR):c.2245C>T (p.Leu749=) rs151235408
NM_000492.3(CFTR):c.2249C>T (p.Pro750Leu) rs140455771
NM_000492.3(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.3(CFTR):c.2252G>T (p.Arg751Leu) rs397508357
NM_000492.3(CFTR):c.2260G>A (p.Val754Met) rs150157202
NM_000492.3(CFTR):c.2280G>A (p.Thr760=) rs138634146
NM_000492.3(CFTR):c.2421A>G (p.Ile807Met) rs144055758
NM_000492.3(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642
NM_000492.3(CFTR):c.2559T>C (p.Ile853=) rs1800104
NM_000492.3(CFTR):c.2562T>G (p.Thr854=) rs1042077
NM_000492.3(CFTR):c.2604A>G (p.Val868=) rs1800105
NM_000492.3(CFTR):c.2620-15C>G rs139379077
NM_000492.3(CFTR):c.2620-26A>G rs201716473
NM_000492.3(CFTR):c.2735C>T (p.Ser912Leu) rs121909034
NM_000492.3(CFTR):c.274-6T>C rs371315549
NM_000492.3(CFTR):c.2758G>A (p.Val920Met) rs373885282
NM_000492.3(CFTR):c.2810dup (p.Val938fs) rs193922510
NM_000492.3(CFTR):c.2820T>G (p.Thr940=) rs60887846
NM_000492.3(CFTR):c.2855T>C (p.Met952Thr) rs142773283
NM_000492.3(CFTR):c.2856G>C (p.Met952Ile) rs151048781
NM_000492.3(CFTR):c.2898G>A (p.Thr966=) rs1800109
NM_000492.3(CFTR):c.2900T>C (p.Leu967Ser) rs1800110
NM_000492.3(CFTR):c.2909G>A (p.Gly970Asp) rs386134230
NM_000492.3(CFTR):c.2930C>T (p.Ser977Phe) rs141033578
NM_000492.3(CFTR):c.2936A>C (p.Asp979Ala) rs397508462
NM_000492.3(CFTR):c.2939T>A (p.Ile980Lys) rs397508463
NM_000492.3(CFTR):c.293A>G (p.Gln98Arg) rs397508464
NM_000492.3(CFTR):c.2991G>C (p.Leu997Phe) rs1800111
NM_000492.3(CFTR):c.3067_3072del (p.Ile1023_Val1024del) rs121908767
NM_000492.3(CFTR):c.3080T>C (p.Ile1027Thr) rs1800112
NM_000492.3(CFTR):c.3095A>G (p.Tyr1032Cys) rs144055758
NM_000492.3(CFTR):c.3107C>A (p.Thr1036Asn) rs397508498
NM_000492.3(CFTR):c.3154T>G (p.Phe1052Val) rs150212784
NM_000492.3(CFTR):c.3181G>C (p.Gly1061Arg) rs142394380
NM_000492.3(CFTR):c.3200C>T (p.Ala1067Val) rs1800114
NM_000492.3(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110
NM_000492.3(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542
NM_000492.3(CFTR):c.3285A>T (p.Thr1095=) rs1800118
NM_000492.3(CFTR):c.332C>T (p.Pro111Leu) rs140502196
NM_000492.3(CFTR):c.3367+37G>A rs137854873
NM_000492.3(CFTR):c.3415A>G (p.Ile1139Val) rs397508556
NM_000492.3(CFTR):c.3454G>C (p.Asp1152His) rs75541969
NM_000492.3(CFTR):c.3468+2dup rs1554392800
NM_000492.3(CFTR):c.3469-17T>C rs199630678
NM_000492.3(CFTR):c.3469-20T>C rs373002889
NM_000492.3(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.3(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.3(CFTR):c.3558A>G (p.Gln1186=) rs1800121
NM_000492.3(CFTR):c.360G>A (p.Ala120=) rs1800077
NM_000492.3(CFTR):c.3659C>T (p.Thr1220Ile) rs1800123
NM_000492.3(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792
NM_000492.3(CFTR):c.3718-24G>A rs374013084
NM_000492.3(CFTR):c.374T>C (p.Ile125Thr) rs141723617
NM_000492.3(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167
NM_000492.3(CFTR):c.3846G>A (p.Trp1282Ter) rs77010898
NM_000492.3(CFTR):c.3870A>G (p.Pro1290=) rs1800130
NM_000492.3(CFTR):c.3897A>G (p.Thr1299=) rs1800131
NM_000492.3(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000492.3(CFTR):c.4056G>T (p.Gln1352His) rs113857788
NM_000492.3(CFTR):c.4242+13A>G rs76179227
NM_000492.3(CFTR):c.4243-20A>G rs138025486
NM_000492.3(CFTR):c.4243-35delT rs193922527
NM_000492.3(CFTR):c.4243-5C>T rs114402068
NM_000492.3(CFTR):c.4272C>T (p.Tyr1424=) rs1800135
NM_000492.3(CFTR):c.4296C>T (p.Asn1432=) rs761669740
NM_000492.3(CFTR):c.4333G>A (p.Asp1445Asn) rs148783445
NM_000492.3(CFTR):c.4357C>T (p.Arg1453Trp) rs4148725
NM_000492.3(CFTR):c.4389G>A (p.Gln1463=) rs1800136
NM_000492.3(CFTR):c.4426C>T (p.Gln1476Ter) rs374705585
NM_000492.3(CFTR):c.443T>C (p.Ile148Thr) rs35516286
NM_000492.3(CFTR):c.44T>C (p.Leu15Pro) rs1562876459
NM_000492.3(CFTR):c.489+3A>G rs377729736
NM_000492.3(CFTR):c.571T>G (p.Phe191Val) rs141482808
NM_000492.3(CFTR):c.577G>T (p.Glu193Ter) rs397508759
NM_000492.3(CFTR):c.581G>T (p.Gly194Val) rs397508763
NM_000492.3(CFTR):c.595C>T (p.His199Tyr) rs121908802
NM_000492.3(CFTR):c.613C>T (p.Pro205Ser) rs121908803
NM_000492.3(CFTR):c.617T>G (p.Leu206Trp) rs121908752
NM_000492.3(CFTR):c.695T>A (p.Val232Asp) rs397508783
NM_000492.3(CFTR):c.742A>G (p.Arg248Gly) rs1554380515
NM_000492.3(CFTR):c.744-33GATT[5] rs1805171
NM_000492.3(CFTR):c.794T>G (p.Met265Arg) rs148519623
NM_000492.3(CFTR):c.869+11C>T rs1800503
NM_000492.3(CFTR):c.890G>A (p.Arg297Gln) rs143486492
NM_000492.3(CFTR):c.91C>T (p.Arg31Cys) rs1800073
NM_000492.3(CFTR):c.935_937delTCT (p.Phe312del) rs121908768
NM_000492.3(CFTR):c.958T>G (p.Leu320Val) rs144476686
NM_000495.5(COL4A5):c.2696G>A (p.Gly899Asp) rs281874702
NM_000512.5(GALNS):c.692C>G (p.Ala231Gly) rs34745339
NM_000517.4(HBA2):c.-41C>G rs1188584832
NM_000517.4(HBA2):c.142G>C (p.Asp48His) rs281864834
NM_000517.4(HBA2):c.427T>C (p.Ter143Gln) rs41464951
NM_000517.4(HBA2):c.49A>G (p.Lys17Glu) rs281865555
NM_000517.6(HBA2):c.*103G>A rs1363099908
NM_000517.6(HBA2):c.*98T>C rs1455865276
NM_000517.6(HBA2):c.237C>A (p.Asn79Lys) rs281860607
NM_000517.6(HBA2):c.257A>T (p.Asp86Val) rs41331747
NM_000517.6(HBA2):c.300+64A>G rs111264741
NM_000517.6(HBA2):c.344C>T (p.Pro115Leu) rs267607269
NM_000517.6(HBA2):c.377T>C (p.Leu126Pro) rs41397847
NM_000517.6(HBA2):c.379G>A (p.Asp127Asn) rs33933481
NM_000517.6(HBA2):c.420del (p.Lys140fs) rs63750520
NM_000517.6(HBA2):c.64G>C (p.Ala22Pro)
NM_000517.6(HBA2):c.69C>T (p.Gly23=) rs63751457
NM_000517.6(HBA2):c.95+27C>T rs558457816
NM_000517.6(HBA2):c.98T>G (p.Met33Arg) rs1468615416
NM_000518.4(HBB):c.126_129delCTTT (p.Phe42fs) rs80356821
NM_000518.4(HBB):c.137T>C (p.Phe46Ser) rs33978338
NM_000518.4(HBB):c.157G>A (p.Asp53Asn) rs33961886
NM_000518.4(HBB):c.157G>C (p.Asp53His) rs33961886
NM_000518.4(HBB):c.184A>G (p.Lys62Glu) rs33995148
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165
NM_000518.4(HBB):c.220G>A (p.Asp74Asn) rs33945705
NM_000518.4(HBB):c.238G>A (p.Asp80Asn) rs33990858
NM_000518.4(HBB):c.238G>C (p.Asp80His) rs33990858
NM_000518.4(HBB):c.238G>T (p.Asp80Tyr) rs33990858
NM_000518.4(HBB):c.23A>G (p.Glu8Gly) rs34387455
NM_000518.4(HBB):c.266T>C (p.Leu89Pro) rs33940204
NM_000518.4(HBB):c.271G>A (p.Glu91Lys) rs33913712
NM_000518.4(HBB):c.275T>C (p.Leu92Pro) rs33917785
NM_000518.4(HBB):c.29C>G (p.Ser10Cys) rs33918131
NM_000518.4(HBB):c.332T>C (p.Leu111Pro) rs35256489
NM_000518.4(HBB):c.34G>A (p.Val12Ile) rs33974228
NM_000518.4(HBB):c.364G>A (p.Glu122Lys) rs33946267
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000518.4(HBB):c.371C>T (p.Thr124Ile) rs33935383
NM_000518.4(HBB):c.374C>T (p.Pro125Leu) rs33983276
NM_000518.4(HBB):c.410G>A (p.Gly137Asp) rs33949486
NM_000518.4(HBB):c.422C>A (p.Ala141Asp) rs33927093
NM_000518.4(HBB):c.67G>A (p.Glu23Lys) rs33959855
NM_000518.4(HBB):c.67G>C (p.Glu23Gln) rs33959855
NM_000518.4(HBB):c.68A>C (p.Glu23Ala) rs33936254
NM_000518.4(HBB):c.68A>G (p.Glu23Gly) rs33936254
NM_000518.5(HBB):c.*110T>C rs33978907
NM_000518.5(HBB):c.*56A>G rs537944366
NM_000518.5(HBB):c.*96T>C rs34029390
NM_000518.5(HBB):c.-133G>A rs72561473
NM_000518.5(HBB):c.-137C>A rs33941377
NM_000518.5(HBB):c.-138C>T rs33944208
NM_000518.5(HBB):c.-140C>T rs34999973
NM_000518.5(HBB):c.-31C>T rs63750628
NM_000518.5(HBB):c.-50A>C rs34305195
NM_000518.5(HBB):c.-78A>G rs33931746
NM_000518.5(HBB):c.-80T>A rs33980857
NM_000518.5(HBB):c.-92C>G rs397515291
NM_000518.5(HBB):c.114G>A (p.Trp38Ter) rs33974936
NM_000518.5(HBB):c.122G>A (p.Arg41Lys) rs34831026
NM_000518.5(HBB):c.128T>C (p.Phe43Ser) rs34378160
NM_000518.5(HBB):c.131A>C (p.Glu44Ala) rs35262412
NM_000518.5(HBB):c.16C>T (p.Pro6Ser) rs33912272
NM_000518.5(HBB):c.170G>A (p.Gly57Asp) rs34439278
NM_000518.5(HBB):c.174C>A (p.Asn58Lys) rs35278874
NM_000518.5(HBB):c.179A>C (p.Lys60Thr) rs35537181
NM_000518.5(HBB):c.180G>C (p.Lys60Asn) rs34621955
NM_000518.5(HBB):c.186G>C (p.Lys62Asn) rs34446260
NM_000518.5(HBB):c.200A>C (p.Lys67Thr) rs35939489
NM_000518.5(HBB):c.203_204del (p.Val68fs) rs34282684
NM_000518.5(HBB):c.209G>A (p.Gly70Asp) rs34718174
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334
NM_000518.5(HBB):c.235del (p.Leu79fs) rs281865475
NM_000518.5(HBB):c.246C>A (p.Leu82=) rs145669504
NM_000518.5(HBB):c.251G>A (p.Gly84Asp) rs1803195
NM_000518.5(HBB):c.262A>C (p.Thr88Pro) rs35553496
NM_000518.5(HBB):c.274C>T (p.Leu92=) rs769583496
NM_000518.5(HBB):c.286A>G (p.Lys96Glu) rs33914359
NM_000518.5(HBB):c.294C>T (p.His98=) rs34515413
NM_000518.5(HBB):c.2T>C (p.Met1Thr) rs33941849
NM_000518.5(HBB):c.314G>C (p.Arg105Thr) rs33911434
NM_000518.5(HBB):c.315+16G>C rs10768683
NM_000518.5(HBB):c.315+70G>C
NM_000518.5(HBB):c.316-238C>T rs558554234
NM_000518.5(HBB):c.316-37G>T rs193922559
NM_000518.5(HBB):c.316-3C>A rs33913413
NM_000518.5(HBB):c.316-45G>C rs140033163
NM_000518.5(HBB):c.316-70C>G rs193922560
NM_000518.5(HBB):c.316-7C>A rs34483965
NM_000518.5(HBB):c.324C>T (p.Gly108=) rs193922562
NM_000518.5(HBB):c.328G>A (p.Val110Met) rs33969677
NM_000518.5(HBB):c.33C>A (p.Ala11=) rs35799536
NM_000518.5(HBB):c.353A>G (p.His118Arg) rs33935673
NM_000518.5(HBB):c.359G>A (p.Gly120Asp) rs33947020
NM_000518.5(HBB):c.363A>C (p.Lys121Asn) rs34726542
NM_000518.5(HBB):c.380T>A (p.Val127Glu) rs33925391
NM_000518.5(HBB):c.380T>C (p.Val127Ala) rs33925391
NM_000518.5(HBB):c.380T>G (p.Val127Gly) rs33925391
NM_000518.5(HBB):c.389C>T (p.Ala130Val) rs111645889
NM_000518.5(HBB):c.394C>A (p.Gln132Lys) rs33910209
NM_000518.5(HBB):c.394C>G (p.Gln132Glu) rs33910209
NM_000518.5(HBB):c.397A>C (p.Lys133Gln) rs33953406
NM_000518.5(HBB):c.402G>C (p.Val134=) rs113082294
NM_000518.5(HBB):c.431A>C (p.His144Pro) rs33918338
NM_000518.5(HBB):c.431A>G (p.His144Arg) rs33918338
NM_000518.5(HBB):c.435G>C (p.Lys145Asn) rs35020585
NM_000518.5(HBB):c.50G>A (p.Gly17Asp) rs33962676
NM_000518.5(HBB):c.59A>G (p.Asn20Ser) rs33972047
NM_000518.5(HBB):c.5T>C (p.Val2Ala) rs33949930
NM_000518.5(HBB):c.75T>A (p.Gly25=) rs33951465
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507
NM_000518.5(HBB):c.82G>T (p.Ala28Ser) rs35424040
NM_000518.5(HBB):c.85dup (p.Leu29fs) rs35532010
NM_000518.5(HBB):c.92+1G>T rs33971440
NM_000518.5(HBB):c.93-23T>C rs111851677
NM_000520.5(HEXA):c.1168C>T (p.Gln390Ter) rs988192535
NM_000520.6(HEXA):c.1107C>T (p.Gly369=) rs140337137
NM_000520.6(HEXA):c.1195A>G (p.Asn399Asp) rs1800430
NM_000520.6(HEXA):c.1306A>G (p.Ile436Val) rs1800431
NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys) rs28942071
NM_000520.6(HEXA):c.1518A>G (p.Glu506=) rs4777502
NM_000520.6(HEXA):c.672+30T>G rs117160567
NM_000520.6(HEXA):c.759G>A (p.Val253=) rs117513345
NM_000520.6(HEXA):c.9C>T (p.Ser3=) rs1800428
NM_000530.8(MPZ):c.293G>C (p.Arg98Pro) rs121913589
NM_000530.8(MPZ):c.418T>A (p.Ser140Thr) rs572010627
NM_000530.8(MPZ):c.684C>T (p.Ser228=) rs34307129
NM_000531.6(OTC):c.-106C>A rs749748052
NM_000531.6(OTC):c.137A>G (p.Lys46Arg) rs1800321
NM_000531.6(OTC):c.167T>C (p.Met56Thr) rs72554320
NM_000531.6(OTC):c.809A>G (p.Gln270Arg) rs1800328
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu) rs374722096
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln) rs150555106
NM_000535.7(PMS2):c.*17G>C rs556089649
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser) rs1805321
NM_000535.7(PMS2):c.1437C>G (p.His479Gln) rs63750685
NM_000535.7(PMS2):c.1438G>A (p.Gly480Arg) rs146848345
NM_000535.7(PMS2):c.1454C>A (p.Thr485Lys) rs1805323
NM_000535.7(PMS2):c.1488C>T (p.His496=) rs1805320
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala) rs2228007
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met) rs74902811
NM_000535.7(PMS2):c.1569C>G (p.Ser523=) rs141458772
NM_000535.7(PMS2):c.1621= (p.Lys541=) rs2228006
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser) rs1805318
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile) rs1805324
NM_000535.7(PMS2):c.1A>G (p.Met1Val) rs587779333
NM_000535.7(PMS2):c.2006+6G>A rs111905775
NM_000535.7(PMS2):c.2007-4G>A rs1805326
NM_000535.7(PMS2):c.2007-7C>T rs55954143
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325
NM_000535.7(PMS2):c.2253T>C (p.Phe751=) rs1805325
NM_000535.7(PMS2):c.23+10G>C rs192027828
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser) rs17420802
NM_000535.7(PMS2):c.2340C>T (p.Pro780=) rs142230276
NM_000535.7(PMS2):c.2466T>C (p.Leu822=) rs10000
NM_000535.7(PMS2):c.2521del (p.Trp841fs) rs886039646
NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala) rs1802683
NM_000535.7(PMS2):c.288C>T (p.Ala96=) rs12532895
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr) rs114090343
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln) rs10254120
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu) rs374704824
NM_000535.7(PMS2):c.705+17A>G rs62456182
NM_000535.7(PMS2):c.780C>G (p.Ser260=) rs1805319
NM_000536.4(RAG2):c.1158C>A (p.Phe386Leu) rs34629171
NM_000536.4(RAG2):c.1504A>G (p.Met502Val) rs145614809
NM_000536.4(RAG2):c.878A>G (p.Glu293Gly) rs16929093
NM_000539.3(RHO):c.360C>T (p.Gly120=) rs79765751
NM_000540.2(RYR1):c.13949T>C (p.Leu4650Pro) rs118192138
NM_000541.5(SAG):c.1091C>T (p.Pro364Leu)
NM_000541.5(SAG):c.201C>T (p.Cys67=) rs72976383
NM_000541.5(SAG):c.511A>G (p.Lys171Glu)
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val) rs142787001
NM_000546.5(TP53):c.74+38C>G rs1642785
NM_000548.3(TSC2):c.4527_4529delCTT (p.Phe1510del) rs137854239
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln) rs1800725
NM_000548.5(TSC2):c.1110G>A (p.Gln370=) rs1800742
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298
NM_000548.5(TSC2):c.1543C>T (p.Leu515=) rs35896166
NM_000548.5(TSC2):c.1600-14C>T rs45517185
NM_000548.5(TSC2):c.1869C>T (p.Ala623=) rs111244727
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His) rs45517323
NM_000548.5(TSC2):c.4269G>A (p.Leu1423=) rs45438898
NM_000548.5(TSC2):c.4285G>T (p.Ala1429Ser) rs45474795
NM_000548.5(TSC2):c.4493+17C>T rs45517345
NM_000548.5(TSC2):c.4536C>T (p.Asp1512=) rs35986575
NM_000548.5(TSC2):c.4809C>T (p.Asp1603=) rs147578602
NM_000548.5(TSC2):c.482-3C>T rs1800720
NM_000548.5(TSC2):c.4959C>T (p.Ser1653=) rs45517384
NM_000548.5(TSC2):c.4983C>T (p.Thr1661=) rs35534817
NM_000548.5(TSC2):c.5161-10A>C rs1800718
NM_000548.5(TSC2):c.5202T>C (p.Asp1734=) rs1748
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr) rs9209
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423
NM_000548.5(TSC2):c.5397G>C (p.Ser1799=) rs1051771
NM_000548.5(TSC2):c.729C>G (p.Leu243=) rs45473698
NM_000548.5(TSC2):c.856A>G (p.Met286Val) rs1800748
NM_000548.5(TSC2):c.948G>A (p.Pro316=) rs45517141
NM_000551.3(VHL):c.183C>G (p.Pro61=) rs63650860
NM_000551.3(VHL):c.340+5G>C rs61758376
NM_000551.3(VHL):c.481C>T (p.Arg161Ter) rs5030818
NM_000551.3(VHL):c.500G>A (p.Arg167Gln) rs5030821
NM_000551.3(VHL):c.74C>T (p.Pro25Leu) rs35460768
NM_000552.4(VWF):c.1173A>T (p.Thr391=) rs1800375
NM_000552.4(VWF):c.1182A>C (p.Ser394=) rs1800376
NM_000552.4(VWF):c.1411G>A (p.Val471Ile) rs1800377
NM_000552.4(VWF):c.1548T>C (p.Tyr516=) rs1800379
NM_000552.4(VWF):c.1626G>A (p.Ala542=) rs35365059
NM_000552.4(VWF):c.1794C>T (p.Ala598=) rs35302737
NM_000552.4(VWF):c.2220G>A (p.Met740Ile) rs2228317
NM_000552.4(VWF):c.2365A>G (p.Thr789Ala) rs1063856
NM_000552.4(VWF):c.2385T>C (p.Tyr795=) rs1063857
NM_000552.4(VWF):c.2451T>A (p.His817Gln) rs57950734
NM_000552.4(VWF):c.2561G>A (p.Arg854Gln) rs41276738
NM_000552.4(VWF):c.2771G>A (p.Arg924Gln) rs33978901
NM_000552.4(VWF):c.3240T>C (p.Tyr1080=) rs4021576
NM_000552.4(VWF):c.3258C>T (p.Tyr1086=) rs112634786
NM_000552.4(VWF):c.3379+7A>C rs113446850
NM_000552.4(VWF):c.3579T>C (p.Pro1193=) rs16933969
NM_000552.4(VWF):c.3686T>G (p.Val1229Gly) rs61749367
NM_000552.4(VWF):c.3789G>A (p.Ser1263=) rs199831474
NM_000552.4(VWF):c.3795G>A (p.Pro1265=) rs2228319
NM_000552.4(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000552.4(VWF):c.3916C>T (p.Arg1306Trp) rs61749384
NM_000552.4(VWF):c.4138A>G (p.Ile1380Val) rs11063988
NM_000552.4(VWF):c.4141A>G (p.Thr1381Ala) rs216311
NM_000552.4(VWF):c.4196G>A (p.Arg1399His) rs1800382
NM_000552.4(VWF):c.4304A>G (p.Asn1435Ser) rs11063987
NM_000552.4(VWF):c.4414G>C (p.Asp1472His) rs1800383
NM_000552.4(VWF):c.4443G>T (p.Gly1481=) rs144796763
NM_000552.4(VWF):c.4641T>C (p.Thr1547=) rs216310
NM_000552.4(VWF):c.4665A>C (p.Ala1555=) rs1800384
NM_000552.4(VWF):c.4693G>T (p.Val1565Leu) rs1800385
NM_000552.4(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386
NM_000552.4(VWF):c.4789C>T (p.Arg1597Trp) rs61750117
NM_000552.4(VWF):c.5278G>A (p.Val1760Ile) rs61750604
NM_000552.4(VWF):c.5313G>T (p.Gly1771=) rs2229448
NM_000554.6(CRX):c.196G>A (p.Val66Ile) rs61748438
NM_000554.6(CRX):c.365G>A (p.Gly122Asp) rs61748441
NM_000554.6(CRX):c.472G>A (p.Ala158Thr) rs61748445
NM_000557.5(GDF5):c.652A>C (p.Arg218=) rs116467702
NM_000558.3(HBA1):c.-42C>T rs370305736
NM_000558.3(HBA1):c.179G>A (p.Gly60Asp) rs28928878
NM_000558.3(HBA1):c.193G>C (p.Asp65His) rs33984024
NM_000558.3(HBA1):c.270C>G (p.His90Gln) rs1061009
NM_000558.3(HBA1):c.287C>T (p.Pro96Leu) rs33931314
NM_000558.3(HBA1):c.341T>A (p.Leu114His) rs35654345
NM_000558.3(HBA1):c.349G>A (p.Glu117Lys) rs63749882
NM_000558.3(HBA1):c.389T>C (p.Leu130Pro) rs35993655
NM_000558.5(HBA1):c.*46C>A rs141514155
NM_000558.5(HBA1):c.-52C>T rs1276035978
NM_000558.5(HBA1):c.17C>A (p.Ala6Asp) rs34090856
NM_000558.5(HBA1):c.207C>G (p.Asn69Lys) rs1060339
NM_000558.5(HBA1):c.273G>C (p.Lys91Asn) rs33914470
NM_000558.5(HBA1):c.337C>G (p.His113Asp) rs34830032
NM_000558.5(HBA1):c.350A>C (p.Glu117Ala) rs35932809
NM_000558.5(HBA1):c.358C>T (p.Pro120Ser)
NM_000558.5(HBA1):c.362C>A (p.Ala121Glu) rs63749927
NM_000558.5(HBA1):c.364G>A (p.Val122Met) rs63751008
NM_000558.5(HBA1):c.396T>C (p.Ser132=) rs149264789
NM_000558.5(HBA1):c.47G>A (p.Gly16Asp) rs281865560
NM_000558.5(HBA1):c.84G>T (p.Glu28Asp) rs41530750
NM_000637.5(GSR):c.1069A>G (p.Ile357Val)
NM_000637.5(GSR):c.694G>A (p.Gly232Ser)
NM_000642.3(AGL):c.1759C>T (p.His587Tyr) rs139488862
NM_000709.4(BCKDHA):c.452C>T (p.Thr151Met) rs34442879
NM_000709.4(BCKDHA):c.639C>T (p.Ile213=) rs10404506
NM_000709.4(BCKDHA):c.648G>T (p.Ala216=) rs114716391
NM_000717.5(CA4):c.258C>T (p.Asn86=) rs185476073
NM_000717.5(CA4):c.415A>T (p.Met139Leu) rs185658468
NM_000719.7(CACNA1C):c.171C>T (p.Asp57=) rs34419050
NM_000719.7(CACNA1C):c.1794C>T (p.Gly598=) rs116491041
NM_000719.7(CACNA1C):c.2449C>T (p.Pro817Ser) rs112532048
NM_000719.7(CACNA1C):c.3780C>A (p.Gly1260=) rs201258230
NM_000719.7(CACNA1C):c.3829-614A>G rs114851656
NM_000719.7(CACNA1C):c.5383G>A (p.Gly1795Arg) rs111298509
NM_000719.7(CACNA1C):c.5593G>A (p.Glu1865Lys) rs200231105
NM_000719.7(CACNA1C):c.5604A>G (p.Gln1868=) rs11062316
NM_000719.7(CACNA1C):c.5639G>A (p.Arg1880Gln) rs182208896
NM_000719.7(CACNA1C):c.5649G>A (p.Pro1883=) rs56270948
NM_000719.7(CACNA1C):c.5665C>T (p.Arg1889Cys) rs185788586
NM_000719.7(CACNA1C):c.5680+11C>T rs66611965
NM_000719.7(CACNA1C):c.5680+15C>T rs114036394
NM_000883.4(IMPDH1):c.1489C>T (p.Arg497Trp)
NM_000883.4(IMPDH1):c.377T>C (p.Phe126Ser) rs367549284
NM_000891.2(KCNJ2):c.1200G>A (p.Thr400=) rs201253055
NM_000891.2(KCNJ2):c.1229A>G (p.Asn410Ser) rs141069645
NM_000941.3(POR):c.1508C>T (p.Ala503Val) rs1057868
NM_000941.3(POR):c.1518C>T (p.Asn506=)
NM_000941.3(POR):c.1521C>T (p.Gly507=) rs370823127
NM_000941.3(POR):c.15A>G (p.Gly5=) rs10262966
NM_000941.3(POR):c.1716G>A (p.Ser572=) rs1057870
NM_000941.3(POR):c.369C>T (p.Ala123=) rs41299490
NM_000941.3(POR):c.683C>T (p.Pro228Leu) rs17853284
NM_000941.3(POR):c.687C>T (p.Ala229=) rs72557906
NM_000941.3(POR):c.87G>A (p.Thr29=) rs41295381
NM_000969.5(RPL5):c.165G>A (p.Val55=) rs58263806
NM_001003800.2(BICD2):c.1376C>T (p.Thr459Met) rs777065935
NM_001003800.2(BICD2):c.269A>G (p.Lys90Arg) rs61754130
NM_001005360.2(DNM2):c.1782-5C>T rs200103145
NM_001005360.2(DNM2):c.1902C>T (p.Asn634=) rs2229919
NM_001005360.2(DNM2):c.2543+7C>G rs201979143
NM_001005360.2(DNM2):c.958G>A (p.Asp320Asn) rs150613209
NM_001006657.2(WDR35):c.1504-7A>G rs376388391
NM_001006657.2(WDR35):c.2623G>A (p.Ala875Thr) rs267607175
NM_001006657.2(WDR35):c.3368A>G (p.Lys1123Arg) rs138007924
NM_001006658.2(CR2):c.2298G>A (p.Trp766Ter) rs151093663
NM_001006658.2(CR2):c.2844G>A (p.Glu948=) rs61754518
NM_001006658.2(CR2):c.524C>T (p.Pro175Leu) rs75282758
NM_001006658.2(CR2):c.970C>T (p.Arg324Cys) rs147393483
NM_001006658.3(CR2):c.2903-3C>A
NM_001007792.1(NTRK1):c.1698-4del rs1799770
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys) rs11258194
NM_001009944.3(PKD1):c.10397C>T (p.Ser3466Leu)
NM_001009944.3(PKD1):c.10619G>C (p.Gly3540Ala) rs201409107
NM_001009944.3(PKD1):c.10678G>A (p.Gly3560Arg) rs79000340
NM_001009944.3(PKD1):c.10698_10703GGCTGT[2] (p.3567_3568AV[2]) rs777460677
NM_001009944.3(PKD1):c.107C>A (p.Pro36His) rs560049593
NM_001009944.3(PKD1):c.11015G>A (p.Arg3672Gln) rs201220835
NM_001009944.3(PKD1):c.11356G>C (p.Glu3786Gln) rs147992238
NM_001009944.3(PKD1):c.11537+3_11537+5dup rs201204878
NM_001009944.3(PKD1):c.11538-11C>T rs377692278
NM_001009944.3(PKD1):c.11652C>T (p.Ser3884=) rs377436997
NM_001009944.3(PKD1):c.11717G>T (p.Cys3906Phe) rs369291413
NM_001009944.3(PKD1):c.11976C>G (p.Ala3992=) rs112387277
NM_001009944.3(PKD1):c.12436G>A (p.Val4146Ile) rs148478410
NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter) rs755496450
NM_001009944.3(PKD1):c.12765C>T (p.Pro4255=) rs62038811
NM_001009944.3(PKD1):c.12769G>A (p.Gly4257Arg) rs369397443
NM_001009944.3(PKD1):c.12826C>T (p.Arg4276Trp) rs114251396
NM_001009944.3(PKD1):c.1710C>T (p.His570=) rs367983387
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
NM_001009944.3(PKD1):c.2235C>G (p.Ala745=) rs533569454
NM_001009944.3(PKD1):c.2655C>T (p.Cys885=) rs142606648
NM_001009944.3(PKD1):c.288-11G>C rs750270591
NM_001009944.3(PKD1):c.3316C>G (p.Leu1106Val) rs141625744
NM_001009944.3(PKD1):c.3496G>A (p.Gly1166Ser) rs573566419
NM_001009944.3(PKD1):c.3502C>T (p.Pro1168Ser) rs146887330
NM_001009944.3(PKD1):c.4018C>T (p.Arg1340Trp) rs143690392
NM_001009944.3(PKD1):c.4055G>A (p.Ser1352Asn) rs141274774
NM_001009944.3(PKD1):c.4264G>A (p.Ala1422Thr) rs140980374
NM_001009944.3(PKD1):c.4546G>A (p.Ala1516Thr) rs148164067
NM_001009944.3(PKD1):c.4917C>T (p.Gly1639=) rs148852027
NM_001009944.3(PKD1):c.5051C>T (p.Ser1684Leu) rs139520275
NM_001009944.3(PKD1):c.5611G>A (p.Ala1871Thr) rs144137200
NM_001009944.3(PKD1):c.5648C>T (p.Ala1883Val) rs779745348
NM_001009944.3(PKD1):c.5682C>T (p.Ala1894=) rs144634185
NM_001009944.3(PKD1):c.5827G>A (p.Val1943Ile) rs137978188
NM_001009944.3(PKD1):c.5847C>T (p.Ser1949=) rs80111665
NM_001009944.3(PKD1):c.588C>T (p.Ser196=) rs776302294
NM_001009944.3(PKD1):c.6078C>T (p.Val2026=) rs147253810
NM_001009944.3(PKD1):c.6488G>A (p.Arg2163Gln) rs145217118
NM_001009944.3(PKD1):c.6496C>T (p.Arg2166Cys) rs146096401
NM_001009944.3(PKD1):c.6598C>T (p.Arg2200Cys) rs140869992
NM_001009944.3(PKD1):c.6621C>G (p.Pro2207=) rs575553075
NM_001009944.3(PKD1):c.6749C>T (p.Thr2250Met) rs139971481
NM_001009944.3(PKD1):c.7066-5G>A rs372745980
NM_001009944.3(PKD1):c.7430G>A (p.Arg2477His)
NM_001009944.3(PKD1):c.7636C>T (p.His2546Tyr) rs200037070
NM_001009944.3(PKD1):c.7642G>C (p.Glu2548Gln) rs28369051
NM_001009944.3(PKD1):c.7863+11C>T rs368629973
NM_001009944.3(PKD1):c.7863+13T>C rs115024665
NM_001009944.3(PKD1):c.8020C>T (p.Pro2674Ser) rs144557371
NM_001009944.3(PKD1):c.8109C>T (p.Thr2703=) rs149879790
NM_001009944.3(PKD1):c.8111C>T (p.Ala2704Val) rs200509641
NM_001009944.3(PKD1):c.8123C>T (p.Thr2708Met) rs147350387
NM_001009944.3(PKD1):c.8161+8G>A rs199569003
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys) rs144979397
NM_001009944.3(PKD1):c.8298C>T (p.Ser2766=) rs145850037
NM_001009944.3(PKD1):c.8305C>T (p.Leu2769Phe) rs771382752
NM_001009944.3(PKD1):c.8364G>A (p.Ser2788=) rs145176597
NM_001009944.3(PKD1):c.837G>A (p.Gly279=) rs372124319
NM_001009944.3(PKD1):c.8440G>A (p.Gly2814Arg) rs149151043
NM_001009944.3(PKD1):c.9270C>T (p.Val3090=) rs149056734
NM_001009944.3(PKD1):c.9499A>T (p.Ile3167Phe) rs139945204
NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu) rs199476099
NM_001009944.3(PKD1):c.9957C>T (p.Ser3319=) rs141101590
NM_001012720.2(RGR):c.744+5A>G rs143720091
NM_001013703.4(EIF2AK4):c.4007A>G (p.Lys1336Arg) rs35480871
NM_001018005.2(TPM1):c.180C>T (p.Tyr60=) rs17850194
NM_001018113.3(FANCB):c.1327-10T>C rs2905223
NM_001024630.4(RUNX2):c.-11_-9del rs139788537
NM_001024630.4(RUNX2):c.1531G>A (p.Gly511Ser) rs11498198
NM_001024630.4(RUNX2):c.225_242GGCGGCTGCGGCGGCGGC[1] (p.Ala84_Ala89del) rs11498192
NM_001024630.4(RUNX2):c.254C>T (p.Ala85Val) rs372138746
NM_001024688.2(NBN):c.411_415del (p.Lys137fs) rs587776650
NM_001029835.2(CCM2):c.309C>T (p.Pro103=) rs148244188
NM_001029835.2(CCM2):c.867-5C>T rs145003686
NM_001029883.3(PCARE):c.1297C>T (p.Pro433Ser) rs200696965
NM_001029883.3(PCARE):c.1582C>T (p.Arg528Cys) rs80151896
NM_001029883.3(PCARE):c.1739C>T (p.Thr580Met) rs10166913
NM_001029883.3(PCARE):c.2063G>A (p.Cys688Tyr) rs149601594
NM_001029883.3(PCARE):c.3739G>A (p.Gly1247Ser) rs187333111
NM_001029883.3(PCARE):c.679G>A (p.Glu227Lys) rs114057537
NM_001031681.2(CTNS):c.116C>T (p.Ser39Leu) rs144751390
NM_001031710.3(KLHL7):c.1440A>G (p.Lys480=) rs118185564
NM_001032386.2(SUOX):c.629C>T (p.Pro210Leu) rs141735896
NM_001033855.3(DCLRE1C):c.227G>C (p.Arg76Thr) rs41296438
NM_001033855.3(DCLRE1C):c.36A>C (p.Pro12=)
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg) rs41297018
NM_001033855.3(DCLRE1C):c.512C>G (p.Pro171Arg) rs35441642
NM_001034850.2(RETREG1):c.607G>A (p.Val203Met) rs143878016
NM_001034850.2(RETREG1):c.86C>T (p.Pro29Leu) rs528532732
NM_001035.3(RYR2):c.10017C>T (p.His3339=) rs376439588
NM_001035.3(RYR2):c.1022G>C (p.Gly341Ala) rs565413020
NM_001035.3(RYR2):c.11766G>A (p.Glu3922=) rs774625105
NM_001035.3(RYR2):c.11988C>T (p.Gly3996=) rs56226196
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=) rs41267517
NM_001035.3(RYR2):c.1776A>T (p.Gly592=) rs72549414
NM_001035.3(RYR2):c.2204-7C>G rs147479514
NM_001035.3(RYR2):c.4198A>G (p.Ser1400Gly) rs56229512
NM_001035.3(RYR2):c.4596+12G>A rs148557427
NM_001035.3(RYR2):c.4684-5G>C rs7522981
NM_001035.3(RYR2):c.5294C>G (p.Ser1765Cys) rs564806219
NM_001035.3(RYR2):c.5654G>A (p.Gly1885Glu) rs41315858
NM_001035.3(RYR2):c.5656G>A (p.Gly1886Ser) rs3766871
NM_001035.3(RYR2):c.7488C>T (p.Leu2496=) rs143906555
NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr) rs201500134
NM_001035.3(RYR2):c.8448C>T (p.Asp2816=) rs144876996
NM_001035.3(RYR2):c.8873A>G (p.Gln2958Arg) rs34967813
NM_001035.3(RYR2):c.9449+8T>A rs60777199
NM_001037.5(SCN1B):c.632G>A (p.Cys211Tyr) rs150721582
NM_001039141.3(TRIOBP):c.2201C>T (p.Ser734Phe) rs199794705
NM_001039141.3(TRIOBP):c.6741G>A (p.Leu2247=) rs375013523
NM_001039141.3(TRIOBP):c.815C>A (p.Thr272Lys) rs140901235
NM_001039213.4(CEACAM16):c.234C>T (p.Gly78=) rs73568059
NM_001039213.4(CEACAM16):c.520G>A (p.Ala174Thr)
NM_001039213.4(CEACAM16):c.565C>T (p.His189Tyr)
NM_001040716.2(PC):c.2619C>T (p.Asn873=) rs2229745
NM_001040716.2(PC):c.616G>T (p.Val206Leu) rs147945506
NM_001042492.2(NF1):c.6852_6855del (p.Tyr2285fs) rs1555535032
NM_001042702.4(PJVK):c.86A>G (p.Asp29Gly) rs200502817
NM_001042702.4(PJVK):c.874G>A (p.Gly292Arg) rs79399438
NM_001048171.1(MUTYH):c.53C>T (p.Pro18Leu) rs79777494
NM_001048171.1(MUTYH):c.654C>T (p.Thr218=) rs780747266
NM_001048171.1(MUTYH):c.658G>A (p.Val220Met) rs200165598
NM_001048171.1(MUTYH):c.74G>A (p.Gly25Asp) rs75321043
NM_001048171.1(MUTYH):c.972G>C (p.Gln324His) rs3219489
NM_001065.3(TNFRSF1A):c.1110C>T (p.Arg370=) rs201683984
NM_001065.3(TNFRSF1A):c.224C>T (p.Pro75Leu) rs4149637
NM_001065.3(TNFRSF1A):c.269C>T (p.Thr90Ile) rs34751757
NM_001065.3(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584
NM_001065.3(TNFRSF1A):c.36A>G (p.Pro12=) rs767455
NM_001065.3(TNFRSF1A):c.625+10A>G rs1800693
NM_001065.3(TNFRSF1A):c.740-9T>C rs12426675
NM_001065.3(TNFRSF1A):c.935G>A (p.Arg312Lys) rs200900510
NM_001072.4(UGT1A6):c.1088C>T (p.Pro363Leu) rs34946978
NM_001072.4(UGT1A6):c.862-10021T>G rs4124874
NM_001072.4(UGT1A6):c.862-6061C>A rs35350960
NM_001072.4(UGT1A6):c.862-6073T>G rs35003977
NM_001077182.3(FSCN2):c.357C>T (p.Ser119=) rs189437871
NM_001077182.3(FSCN2):c.538C>T (p.Arg180Trp) rs200332556
NM_001077182.3(FSCN2):c.718G>A (p.Ala240Thr) rs370156011
NM_001077401.2(ACVRL1):c.1450C>T (p.Arg484Trp) rs121909288
NM_001077401.2(ACVRL1):c.1451G>A (p.Arg484Gln) rs863223408
NM_001079866.2(BCS1L):c.613G>A (p.Val205Ile) rs148278887
NM_001080116.1(LDB3):c.780C>T (p.Asn260=) rs372789789
NM_001081.3(CUBN):c.10265C>T (p.Thr3422Ile) rs1801230
NM_001081.3(CUBN):c.2571C>T (p.Asn857=) rs17432826
NM_001081.3(CUBN):c.2756A>G (p.His919Arg) rs148869805
NM_001081.3(CUBN):c.2791+6A>C rs78549445
NM_001081.3(CUBN):c.4268C>T (p.Thr1423Met) rs483352704
NM_001081.3(CUBN):c.5069C>T (p.Ala1690Val) rs141640975
NM_001081.3(CUBN):c.5098G>A (p.Asp1700Asn) rs116114483
NM_001081.3(CUBN):c.5304C>T (p.Ile1768=) rs61841454
NM_001081.3(CUBN):c.5803A>G (p.Ser1935Gly) rs41289305
NM_001081.3(CUBN):c.6788T>G (p.Phe2263Cys) rs2271460
NM_001081.3(CUBN):c.7724C>G (p.Pro2575Arg) rs3740168
NM_001081.3(CUBN):c.8894T>C (p.Phe2965Ser) rs117620008
NM_001081.3(CUBN):c.8950A>G (p.Ile2984Val) rs1801239
NM_001083602.2(PTCH1):c.120C>T (p.Leu40=) rs1805153
NM_001083602.2(PTCH1):c.1467T>C (p.Asn489=) rs1805155
NM_001083602.2(PTCH1):c.1488C>T (p.Ala496=) rs2066836
NM_001083602.2(PTCH1):c.1715G>A (p.Arg572His) rs145766839
NM_001083602.2(PTCH1):c.3746C>T (p.Pro1249Leu) rs357564
NM_001083603.1(PTCH1):c.163G>C (p.Asp55His) rs73527759
NM_001084.5(PLOD3):c.1144G>C (p.Asp382His) rs41281013
NM_001084.5(PLOD3):c.1678G>C (p.Glu560Gln) rs140879834
NM_001100.3(ACTA1):c.37G>A (p.Asp13Asn)
NM_001103.3(ACTN2):c.1371C>T (p.Arg457=) rs114008185
NM_001103.3(ACTN2):c.1810A>G (p.Met604Val) rs35997569
NM_001103.3(ACTN2):c.2076C>T (p.Ile692=) rs144122893
NM_001103.3(ACTN2):c.2649G>A (p.Ala883=) rs146426213
NM_001105206.3(LAMA4):c.1158G>A (p.Glu386=) rs147894075
NM_001105206.3(LAMA4):c.1821G>A (p.Lys607=) rs374481199
NM_001105206.3(LAMA4):c.195+144T>C rs147118520
NM_001105206.3(LAMA4):c.196-12T>C rs78871662
NM_001105206.3(LAMA4):c.2171G>A (p.Arg724Lys) rs146868519
NM_001105206.3(LAMA4):c.2810A>G (p.Glu937Gly) rs35605307
NM_001105206.3(LAMA4):c.3239G>A (p.Arg1080Gln) rs41289902
NM_001105206.3(LAMA4):c.4065C>T (p.Phe1355=) rs34753919
NM_001105206.3(LAMA4):c.4173T>C (p.Tyr1391=) rs35042032
NM_001105206.3(LAMA4):c.888C>T (p.Ser296=) rs17073495
NM_001105206.3(LAMA4):c.924T>C (p.His308=) rs143580603
NM_001110556.2(FLNA):c.1029C>T (p.Ser343=) rs199853721
NM_001110556.2(FLNA):c.1176G>A (p.Glu392=) rs201173693
NM_001110556.2(FLNA):c.1191C>T (p.Ile397=) rs200048692
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met) rs36051194
NM_001110556.2(FLNA):c.1429+8C>T rs202181557
NM_001110556.2(FLNA):c.1579C>T (p.Arg527Cys) rs202029322
NM_001110556.2(FLNA):c.1582G>A (p.Val528Met) rs143873938
NM_001110556.2(FLNA):c.1813G>A (p.Asp605Asn) rs201093148
NM_001110556.2(FLNA):c.1828+3A>G rs368041880
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=) rs200660642
NM_001110556.2(FLNA):c.1968C>T (p.Leu656=) rs73638274
NM_001110556.2(FLNA):c.237G>C (p.Ala79=) rs200626788
NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser) rs200053635
NM_001110556.2(FLNA):c.2839G>A (p.Val947Ile) rs782239678
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu) rs17091204
NM_001110556.2(FLNA):c.3270C>T (p.Ile1090=) rs79391751
NM_001110556.2(FLNA):c.3690C>T (p.Thr1230=) rs35015603
NM_001110556.2(FLNA):c.3708C>T (p.Gly1236=) rs200363918
NM_001110556.2(FLNA):c.3876C>T (p.His1292=) rs199917719
NM_001110556.2(FLNA):c.3915G>A (p.Thr1305=) rs201488545
NM_001110556.2(FLNA):c.4233G>A (p.Ser1411=) rs34439033
NM_001110556.2(FLNA):c.4420G>A (p.Asp1474Asn) rs782129236
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356
NM_001110556.2(FLNA):c.4737G>C (p.Leu1579=) rs201904661
NM_001110556.2(FLNA):c.4866C>T (p.Tyr1622=) rs200835571
NM_001110556.2(FLNA):c.5193G>A (p.Val1731=) rs201458268
NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr) rs57108893
NM_001110556.2(FLNA):c.5661C>T (p.Thr1887=) rs782253233
NM_001110556.2(FLNA):c.5850T>C (p.Ala1950=) rs2070825
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu) rs187029309
NM_001110556.2(FLNA):c.62_64dup (p.Val21dup) rs782721874
NM_001110556.2(FLNA):c.6350A>G (p.Asn2117Ser) rs375205247
NM_001110556.2(FLNA):c.663C>T (p.Pro221=) rs2073470
NM_001110556.2(FLNA):c.6642G>C (p.Val2214=) rs1064822
NM_001110556.2(FLNA):c.6742C>T (p.Leu2248=) rs113510895
NM_001110556.2(FLNA):c.7067G>A (p.Ser2356Asn) rs782739586
NM_001110556.2(FLNA):c.7224C>T (p.Gly2408=) rs12008807
NM_001110556.2(FLNA):c.7267C>T (p.Pro2423Ser) rs200198847
NM_001110556.2(FLNA):c.942A>G (p.Gly314=) rs200763980
NM_001110792.2(MECP2):c.1233C>T (p.Pro411=) rs61753012
NM_001110792.2(MECP2):c.1241C>T (p.Pro414Leu) rs61753014
NM_001110792.2(MECP2):c.1351G>A (p.Ala451Thr) rs61753973
NM_001110792.2(MECP2):c.204C>T (p.Pro68=) rs61754435
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg) rs61748404
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001113378.1(FANCI):c.164C>T (p.Pro55Leu) rs62020347
NM_001113378.1(FANCI):c.2367G>T (p.Ala789=) rs11857960
NM_001113378.1(FANCI):c.2629A>T (p.Ile877Leu) rs35875311
NM_001113378.1(FANCI):c.3906T>C (p.Gly1302=) rs1138465
NM_001114636.1(FANCL):c.791-21dup rs374236117
NM_001122769.3(LCA5):c.338A>G (p.Asn113Ser)
NM_001126049.1(KLLN):c.-898G>A rs538728843
NM_001126112.2(TP53):c.108G>A (p.Pro36=) rs1800370
NM_001126112.2(TP53):c.139C>T (p.Pro47Ser) rs1800371
NM_001126112.2(TP53):c.215C>G (p.Pro72Arg) rs1042522
NM_001126112.2(TP53):c.28G>A (p.Val10Ile) rs535274413
NM_001126112.2(TP53):c.478A>G (p.Met160Val) rs377274728
NM_001126112.2(TP53):c.638G>C (p.Arg213Pro) rs587778720
NM_001126112.2(TP53):c.639A>G (p.Arg213=) rs1800372
NM_001126112.2(TP53):c.665C>T (p.Pro222Leu) rs146340390
NM_001126112.2(TP53):c.818G>A (p.Arg273His) rs28934576
NM_001126112.2(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_001126112.2(TP53):c.848G>A (p.Arg283His) rs371409680
NM_001126112.2(TP53):c.97-6C>T rs35117667
NM_001126112.2(TP53):c.993+12T>C rs1800899
NM_001126121.2(SLC25A19):c.483C>T (p.Ala161=) rs142281464
NM_001126131.2(POLG):c.1550G>T (p.Gly517Val) rs61752783
NM_001126131.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_001126131.2(POLG):c.2243G>C (p.Trp748Ser) rs113994097
NM_001126131.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_001127217.2(SMAD9):c.743C>A (p.Thr248Lys) rs79733377
NM_001127217.2(SMAD9):c.756T>C (p.His252=) rs146836873
NM_001127217.2(SMAD9):c.788G>A (p.Arg263Gln) rs78249575
NM_001127453.2(GSDME):c.1199C>T (p.Ala400Val) rs71535705
NM_001127500.3(MET):c.1124A>G (p.Asn375Ser) rs33917957
NM_001127500.3(MET):c.144G>A (p.Ala48=) rs11762213
NM_001127500.3(MET):c.2962C>T (p.Arg988Cys) rs34589476
NM_001127500.3(MET):c.3029C>T (p.Thr1010Ile) rs56391007
NM_001127500.3(MET):c.504G>T (p.Glu168Asp) rs55985569
NM_001127500.3(MET):c.948A>G (p.Ile316Met) rs35225896
NM_001127511.2(APC):c.-126dup rs565045828
NM_001127671.2(LIFR):c.143-37GT[11] rs10637374
NM_001127671.2(LIFR):c.143-37GT[13] rs10637374
NM_001127671.2(LIFR):c.1899A>G (p.Ile633Met) rs2303743
NM_001127671.2(LIFR):c.1937C>A (p.Thr646Asn) rs79040751
NM_001127671.2(LIFR):c.2447A>G (p.Asp816Gly) rs74856317
NM_001127671.2(LIFR):c.2934G>A (p.Gln978=) rs148354076
NM_001127671.2(LIFR):c.364A>G (p.Thr122Ala) rs145163157
NM_001127671.2(LIFR):c.420G>A (p.Glu140=) rs142475175
NM_001127671.2(LIFR):c.670A>G (p.Ile224Val) rs151282774
NM_001128228.3(TPRN):c.858C>T (p.Cys286=) rs375619082
NM_001128425.1(MUTYH):c.1548G>A (p.Pro516=) rs143796254
NM_001128425.1(MUTYH):c.998-9C>T rs3219488
NM_001128849.2(SMARCA4):c.1114T>C (p.Tyr372His) rs140192268
NM_001128849.2(SMARCA4):c.4864+15G>C rs113131294
NM_001130089.1(KARS1):c.1163-7C>T rs16941301
NM_001130089.1(KARS1):c.1262G>A (p.Arg421Gln) rs149772470
NM_001130823.3(DNMT1):c.1500C>T (p.Ala500=) rs75443147
NM_001130823.3(DNMT1):c.1944C>T (p.Phe648=) rs61750052
NM_001130823.3(DNMT1):c.206G>A (p.Arg69His) rs61750053
NM_001130823.3(DNMT1):c.2382-4C>T rs74505694
NM_001130823.3(DNMT1):c.2463C>T (p.Leu821=) rs61750051
NM_001130823.3(DNMT1):c.2693C>T (p.Thr898Ile) rs201213597
NM_001130823.3(DNMT1):c.3939C>T (p.Gly1313=) rs142903301
NM_001130823.3(DNMT1):c.4428T>G (p.His1476Gln) rs142647321
NM_001130823.3(DNMT1):c.4503C>T (p.Cys1501=) rs149271718
NM_001130823.3(DNMT1):c.4773+18C>T rs183300496
NM_001130823.3(DNMT1):c.4876G>A (p.Glu1626Lys) rs201774098
NM_001130823.3(DNMT1):c.575C>T (p.Ala192Val) rs62621089
NM_001130823.3(DNMT1):c.731G>A (p.Gly244Glu) rs150999369
NM_001130823.3(DNMT1):c.868G>A (p.Glu290Lys) rs200024502
NM_001134363.3(RBM20):c.1057G>A (p.Glu353Lys) rs554690506
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro) rs61735272
NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu) rs189569984
NM_001134363.3(RBM20):c.1881-3C>T rs138436392
NM_001134363.3(RBM20):c.1914G>A (p.Pro638=) rs74339620
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621
NM_001134363.3(RBM20):c.517C>A (p.Pro173Thr) rs7908490
NM_001134363.3(RBM20):c.695G>A (p.Gly232Asp) rs61735268
NM_001134363.3(RBM20):c.850G>A (p.Gly284Arg) rs201148126
NM_001135599.3(TGFB2):c.1042C>T (p.Arg348Cys) rs1553303352
NM_001135599.3(TGFB2):c.114G>A (p.Glu38=) rs149215818
NM_001135599.3(TGFB2):c.272G>A (p.Arg91His) rs10482721
NM_001135599.3(TGFB2):c.703G>C (p.Val235Leu) rs10482810
NM_001135599.3(TGFB2):c.905dup (p.Asn302fs) rs863223796
NM_001135599.3(TGFB2):c.988C>T (p.Arg330Cys) rs869312903
NM_001136473.1(LITAF):c.234G>A (p.Thr78=) rs9282774
NM_001136473.1(LITAF):c.274A>G (p.Ile92Val) rs4280262
NM_001142446.2(ANK1):c.1008+7A>G rs17661203
NM_001142446.2(ANK1):c.1419G>A (p.Pro473=) rs28533718
NM_001142446.2(ANK1):c.1955G>A (p.Arg652His) rs2304877
NM_001142446.2(ANK1):c.2172C>T (p.Gly724=) rs1137177
NM_001142446.2(ANK1):c.2448C>T (p.Thr816=) rs2304880
NM_001142446.2(ANK1):c.2502G>A (p.Lys834=) rs147130318
NM_001142446.2(ANK1):c.3036G>C (p.Leu1012=) rs504574
NM_001142446.2(ANK1):c.3609C>T (p.Ser1203=) rs35964634
NM_001142446.2(ANK1):c.414C>T (p.Asn138=) rs2304871
NM_001142446.2(ANK1):c.4224C>T (p.Ala1408=) rs7816734
NM_001142446.2(ANK1):c.4508C>T (p.Ala1503Val) rs34664882
NM_001142446.2(ANK1):c.4629C>T (p.Arg1543=) rs34265667
NM_001142446.2(ANK1):c.5388G>A (p.Val1796=) rs750625
NM_001142446.2(ANK1):c.549A>G (p.Val183=) rs6982971
NM_001142446.2(ANK1):c.5602-3T>C rs515071
NM_001142446.2(ANK1):c.696G>A (p.Pro232=) rs2304873
NM_001142564.1(CNGA1):c.519A>G (p.Glu173=) rs76061451
NM_001142800.2(EYS):c.1146T>C (p.Asn382=) rs974110
NM_001142800.2(EYS):c.1596A>C (p.Lys532Asn)
NM_001142800.2(EYS):c.1809C>T (p.Val603=) rs9345601
NM_001142800.2(EYS):c.2733T>C (p.Asn911=) rs75634595
NM_001142800.2(EYS):c.3345A>G (p.Glu1115=) rs114282214
NM_001142800.2(EYS):c.359C>T (p.Thr120Met) rs12193967
NM_001142800.2(EYS):c.5510G>C (p.Trp1837Ser) rs199689193
NM_001142800.2(EYS):c.5705A>T (p.Asn1902Ile) rs9353806
NM_001142800.2(EYS):c.8133_8137del (p.Phe2712fs) rs751629543
NM_001142800.2(EYS):c.8422G>A (p.Ala2808Thr) rs111991705
NM_001142800.2(EYS):c.9299_9302del (p.Thr3100fs)
NM_001142864.4(PIEZO1):c.1998-10C>T
NM_001142864.4(PIEZO1):c.2344G>A (p.Gly782Ser) rs200970763
NM_001142864.4(PIEZO1):c.2423G>A (p.Arg808Gln) rs202103485
NM_001142864.4(PIEZO1):c.3935C>T (p.Ala1312Val)
NM_001142864.4(PIEZO1):c.5743C>A (p.Arg1915Ser) rs13338527
NM_001142864.4(PIEZO1):c.645C>G (p.His215Gln) rs559847737
NM_001142864.4(PIEZO1):c.6804G>A (p.Ala2268=)
NM_001142864.4(PIEZO1):c.718A>G (p.Ile240Val) rs114403731
NM_001142864.4(PIEZO1):c.7240G>A (p.Asp2414Asn)
NM_001142864.4(PIEZO1):c.7381G>A (p.Glu2461Lys) rs371391349
NM_001142864.4(PIEZO1):c.7426C>T (p.Arg2476Cys)
NM_001142864.4(PIEZO1):c.7529C>T (p.Pro2510Leu) rs61745086
NM_001143992.2(WRAP53):c.1223G>A (p.Gly408Asp) rs116535684
NM_001143992.2(WRAP53):c.1308T>C (p.Ala436=) rs34016213
NM_001143992.2(WRAP53):c.31C>T (p.Pro11Ser) rs17880282
NM_001143992.2(WRAP53):c.450C>T (p.Phe150=) rs2287498
NM_001145308.4(LRTOMT):c.-149C>T rs145851613
NM_001145308.4(LRTOMT):c.-52G>C rs149637884
NM_001145661.2(GATA2):c.1233G>A (p.Ala411=) rs34172218
NM_001145661.2(GATA2):c.481C>G (p.Pro161Ala) rs34799090
NM_001145809.2(MYH14):c.1150G>T (p.Gly384Cys) rs119103280
NM_001145809.2(MYH14):c.2841C>T (p.Arg947=) rs138987081
NM_001145809.2(MYH14):c.3537C>T (p.Ala1179=) rs559356437
NM_001145809.2(MYH14):c.3749C>A (p.Ala1250Glu) rs11669191
NM_001145809.2(MYH14):c.3871G>T (p.Val1291Leu) rs202242879
NM_001145809.2(MYH14):c.5529C>T (p.Ser1843=) rs12610591
NM_001145809.2(MYH14):c.5573G>A (p.Arg1858His) rs11882073
NM_001145809.2(MYH14):c.5868C>T (p.Ala1956=) rs190695624
NM_001145809.2(MYH14):c.820A>G (p.Ile274Val) rs200424400
NM_001145847.2(PROM1):c.55T>G (p.Ser19Ala) rs189108830
NM_001146079.2(CLDN14):c.11C>T (p.Thr4Met) rs113831133
NM_001146289.1(P3H1):c.1529A>G (p.Asn510Ser) rs149894086
NM_001146289.1(P3H1):c.611C>A (p.Pro204His) rs77208721
NM_001148.6(ANK2):c.10395G>A (p.Glu3465=) rs147423696
NM_001148.6(ANK2):c.11218C>A (p.Leu3740Ile) rs35530544
NM_001148.6(ANK2):c.11790C>T (p.Ile3930=) rs45517840
NM_001148.6(ANK2):c.1881+8C>G rs74976371
NM_001148.6(ANK2):c.2249A>G (p.Gln750Arg) rs371787039
NM_001148.6(ANK2):c.2278-11G>A rs146312675
NM_001148.6(ANK2):c.2377-8C>T rs139893914
NM_001148.6(ANK2):c.3510A>G (p.Val1170=) rs35336373
NM_001148.6(ANK2):c.3543C>T (p.Ala1181=) rs76685232
NM_001148.6(ANK2):c.3893+10T>C rs72556367
NM_001148.6(ANK2):c.4152T>C (p.Asp1384=) rs116128106
NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly) rs72544141
NM_001148.6(ANK2):c.6648C>G (p.Gly2216=) rs140926982
NM_001148.6(ANK2):c.7488A>G (p.Thr2496=) rs143161930
NM_001148.6(ANK2):c.7902G>A (p.Val2634=) rs150878494
NM_001148.6(ANK2):c.8503C>T (p.Pro2835Ser) rs3733617
NM_001148.6(ANK2):c.9061G>A (p.Ala3021Thr) rs74348333
NM_001148.6(ANK2):c.9286A>G (p.Ser3096Gly) rs144158934
NM_001148.6(ANK2):c.962G>A (p.Arg321Gln) rs150226540
NM_001148.6(ANK2):c.9854T>C (p.Ile3285Thr) rs36210417
NM_001148.6(ANK2):c.9900C>A (p.Ser3300Arg) rs34270799
NM_001163213.1(FGFR3):c.1114G>T (p.Gly372Cys) rs121913479
NM_001163213.1(FGFR3):c.1117A>T (p.Ser373Cys) rs121913484
NM_001163213.1(FGFR3):c.1124A>G (p.Tyr375Cys) rs121913485
NM_001163213.1(F