ClinVar Miner

Variants from Mendelics with conflicting interpretations

Location: Brazil — Primary collection method: clinical testing
Minimum review status of the submission from Mendelics: Collection method of the submission from Mendelics:
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
3220 2371 134 1754 1602 137 737 3199

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
Mendelics pathogenic likely pathogenic uncertain significance likely benign benign affects association drug response protective risk factor other
pathogenic 39 262 105 11 4 0 1 19 2 17 12
likely pathogenic 160 4 131 13 7 1 1 1 0 6 3
uncertain significance 192 144 53 746 304 1 1 3 0 13 15
likely benign 71 20 481 11 673 1 1 4 0 4 8
benign 101 32 340 668 27 1 2 3 0 26 10

Submitter to submitter summary #

Total submitters: 247
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
Invitae 0 2273 0 693 627 12 109 1435
GeneDx 0 1660 0 452 316 1 90 857
Ambry Genetics 0 1525 0 294 327 0 36 655
Color 0 1027 0 217 322 0 18 553
Illumina Clinical Services Laboratory,Illumina 0 479 0 260 169 0 35 460
Integrated Genetics/Laboratory Corporation of America 0 667 3 199 189 0 40 428
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 753 0 222 121 19 66 424
OMIM 0 259 0 34 30 89 220 359
Counsyl 0 802 0 158 103 1 52 311
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 388 0 176 67 0 38 281
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 463 0 123 117 3 14 256
Quest Diagnostics Nichols Institute San Juan Capistrano 0 521 0 128 108 0 20 252
PreventionGenetics,PreventionGenetics 0 560 0 162 72 0 6 239
CeGaT Praxis fuer Humangenetik Tuebingen 0 255 0 42 165 0 23 229
Genetic Services Laboratory, University of Chicago 0 219 0 131 58 3 17 207
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 48 66 38 65 0 2 167
CSER _CC_NCGL, University of Washington 0 98 0 71 68 0 7 146
GeneReviews 0 68 50 16 3 0 77 145
Department of Pathology and Laboratory Medicine,Sinai Health System 0 136 0 87 48 0 4 138
Sharing Clinical Reports Project (SCRP) 0 143 0 84 44 0 3 126
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 167 0 71 30 0 14 114
Athena Diagnostics Inc 0 179 0 68 34 0 11 113
Breast Cancer Information Core (BIC) (BRCA2) 0 108 0 12 92 0 9 113
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 158 0 88 22 0 0 106
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 140 0 43 34 0 5 80
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 57 0 37 37 0 5 77
Breast Cancer Information Core (BIC) (BRCA1) 0 71 0 6 55 0 8 69
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 62 0 54 11 0 1 66
True Health Diagnostics 0 132 0 28 24 1 3 56
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 0 46 13 25 11 0 3 52
Mendelics 8265 475 0 9 39 0 2 50
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 115 0 42 4 0 1 47
Fulgent Genetics,Fulgent Genetics 0 270 0 14 19 0 11 44
Baylor Genetics 0 133 0 22 4 0 18 43
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 67 0 26 15 0 2 41
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 54 0 32 8 0 0 40
Michigan Medical Genetics Laboratories,University of Michigan 0 39 0 34 6 0 0 39
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 26 0 8 10 0 20 38
Center for Human Genetics, Inc 0 23 0 13 18 0 6 37
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 27 0 5 23 0 9 37
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 19 0 10 17 0 4 30
University of Washington Department of Laboratory Medicine, University of Washington 0 39 0 5 17 1 6 29
Blueprint Genetics 0 37 0 9 10 2 7 28
PharmGKB 0 0 0 0 0 27 0 27
Pathway Genomics 0 50 0 22 4 0 1 26
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency 0 15 0 20 6 0 0 26
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 18 0 16 10 0 0 26
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 26 0 13 8 1 3 25
Vantari Genetics 0 16 0 13 10 0 1 24
NIHR Bioresource Rare Diseases, University of Cambridge 0 13 0 14 3 0 7 24
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 27 0 6 4 0 12 22
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 0 8 0 11 1 0 9 21
GeneKor MSA 0 131 0 8 11 1 1 21
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 23 0 3 15 0 2 20
Database of Curated Mutations (DoCM) 0 5 0 13 0 0 7 20
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 19 0 6 9 0 4 18
SIB Swiss Institute of Bioinformatics 0 16 0 9 4 0 4 17
Research and Development, ARUP Laboratories 0 28 0 4 6 0 6 16
Inherited Neuropathy Consortium 0 2 0 0 9 0 7 16
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 7 1 0 7 15
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 51 0 10 6 0 0 15
Department of Ophthalmology and Visual Sciences Kyoto University 0 2 0 13 0 0 1 14
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 0 77 0 8 4 0 2 14
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 16 0 0 12 0 2 14
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 25 0 14 0 0 0 14
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 6 0 13 0 0 0 13
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 22 0 3 7 0 2 12
Reproductive Health Research and Development,BGI Genomics 0 25 0 2 4 2 4 12
Institute of Human Genetics,Klinikum rechts der Isar 0 28 0 5 0 0 5 10
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 97 0 9 0 0 1 10
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 9 0 1 3 0 6 10
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 13 0 0 5 0 4 9
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 3 3 0 0 3 9
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 22 0 5 0 0 4 9
Sharon lab,Hadassah-Hebrew University Medical Center 0 13 0 5 0 0 4 9
ClinGen CDH1 Variant Curation Expert Panel 0 6 0 3 6 0 0 9
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne 0 23 0 9 0 0 0 9
Department of Pathology and Molecular Medicine,Queen's University 0 13 0 5 3 0 0 8
3DMed Clinical Laboratory Inc 0 11 0 1 7 0 0 8
Hereditary Cancer Genetics group,Vall d'Hebron Institute of Oncology 0 1 0 8 2 0 0 8
Northcott Neuroscience Laboratory, ANZAC Research Institute 0 0 1 6 0 0 0 7
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 5 0 3 4 0 0 7
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 9 0 2 1 0 4 7
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 5 0 2 7
UCLA Clinical Genomics Center, UCLA 0 2 0 2 0 0 4 6
Division of Human Genetics,Children's Hospital of Philadelphia 0 21 0 3 0 0 3 6
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 2 0 1 2 0 3 6
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg 0 2 0 3 0 0 3 6
Undiagnosed Diseases Network,NIH 0 7 0 3 0 0 3 6
Clinical Genomics Lab,St. Jude Children's Research Hospital 0 18 0 2 4 0 0 6
Johns Hopkins Genomics,Johns Hopkins University 0 8 0 2 3 0 1 6
LDLR-LOVD, British Heart Foundation 0 2 0 1 1 0 3 5
PALB2 database 0 19 0 2 3 0 0 5
RettBASE 0 10 0 3 0 0 2 5
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 0 0 3 0 0 2 5
Personalized Diabetes Medicine Program,University of Maryland School of Medicine 0 7 0 3 2 0 0 5
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 0 2 0 0 0 0 5 5
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 6 0 3 1 0 1 5
Gharavi Laboratory,Columbia University 0 13 0 1 3 0 1 5
ClinGen TP53 Variant Curation Expert Panel,ClinGen 0 6 0 2 3 0 0 5
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 22 0 3 0 1 0 4
Center for Medical Genetics Ghent,University of Ghent 0 3 0 1 3 0 0 4
Laboratory of Molecular Diagnosis of Cancer,West China Hospital, Sichuan University 0 13 0 0 4 0 0 4
Cancer Genetics Laboratory,Peter MacCallum Cancer Centre 0 13 0 1 3 0 0 4
Human Genetics - Radboudumc,Radboudumc 0 5 0 2 0 0 2 4
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center 0 33 0 0 3 0 1 4
Center of Medical Genetics and Primary Health Care 0 6 0 1 1 0 2 4
Fundacion Hipercolesterolemia Familiar 0 0 0 0 3 0 1 4
ClinGen PTEN Variant Curation Expert Panel 0 5 0 2 2 0 0 4
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 0 0 1 1 0 1 3
Clinical Biochemistry Laboratory,Health Services Laboratory 0 2 0 0 3 0 0 3
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 31 0 1 0 0 2 3
Academic Department of Medical Genetics, University of Cambridge 0 4 0 2 0 0 1 3
PXE International 0 1 0 2 0 0 1 3
GenMed Metabolism Lab 0 3 0 2 0 0 1 3
National Institute of Mental Health and Neurosciences 0 0 0 0 0 0 3 3
Medical Genetics, University of Parma 0 0 0 0 1 0 2 3
Forensic Genetics Laboratory,Harris County Institute of Forensic Sciences 0 0 0 0 0 0 3 3
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 0 0 1 0 2 3
Department of Medical Genetics,University Hospital of North Norway 0 7 0 2 1 0 0 3
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 2 0 0 2 0 1 3
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 1 0 0 0 0 3 3
Robarts Research Institute,Western University 0 0 0 1 1 0 1 3
Department of Laboratory Medicine and Genetics,Trillium Health Partners Credit Valley Hospital 0 3 0 1 0 0 2 3
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 8 0 0 1 0 2 3
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 0 0 0 0 0 0 3 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 9 0 2 0 0 1 3
ClinGen PAH Variant Curation Expert Panel 0 3 0 2 1 0 0 3
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 2 0 3 0 0 0 3
Cancer Variant Interpretation Group UK,Institute of Cancer Research, London 0 0 0 2 0 0 1 3
Codex Genetics Limited 0 0 0 0 0 0 3 3
Genesis Genome Database 0 0 0 0 2 0 1 3
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 0 1 0 1 0 0 1 2
Molecular Vision Laboratory 0 0 0 0 0 2 0 2
Division Human Genetics,Medical University Innsbruck 0 10 0 2 0 0 0 2
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 0 0 0 1 0 0 1 2
Center for Genetic Medicine Research,Children's National Medical Center 0 1 0 0 0 0 2 2
Department of Medical Genetics,Oslo University Hospital 0 24 0 1 0 0 1 2
Department of Pharmacy and Biotechnology,University of Bologna 0 0 0 0 2 0 0 2
CHU Sainte-Justine Research Center,University of Montreal 0 0 0 2 0 0 0 2
Chan Lab,Boston Children's Hospital 0 0 0 0 0 0 2 2
Institute for Integrative and Experimental Genomics,University of Luebeck 0 0 0 2 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 3 0 2 0 0 0 2
UW Hindbrain Malformation Research Program,University of Washington 0 3 0 2 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 5 0 1 1 0 0 2
Paul Sabatier University EA-4555, Paul Sabatier University 0 2 0 1 0 0 1 2
Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc. 0 0 0 0 2 0 0 2
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 2 0 1 0 0 1 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 0 1 0 1 2
Neurogenetics Laboratory - MEYER,AOU Meyer 0 3 0 0 1 0 1 2
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 2 0 0 2 0 0 2
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation 0 0 0 0 0 0 2 2
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 0 1 0 1 1 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 2 0 2 0 0 0 2
Iberoamerican FH Network 0 0 0 0 2 0 0 2
Human Genomics Unit,Institute for molecular medicine Finland (FIMM) 0 0 0 0 0 0 2 2
Medical Genetics Summaries 0 0 0 0 0 2 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 2 0 0 0 2
Center for Computational Genomics and Data Science,University of Alabama 0 0 0 0 0 2 0 2
Molecular Genetics Diagnostic Laboratory,Detroit Medical Center University Laboratories 0 0 0 1 0 0 0 1
Claritas Genomics 0 2 0 0 1 0 0 1
Genetic Diagnostic Laboratory,University of Pennsylvania School of Medicine 0 0 0 0 0 0 1 1
Cancer Genomic Medicine Translational Research Lab,Cleveland Clinic Genomic Medicine Institute 0 0 0 0 1 0 0 1
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 2 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 0 0 0 0 0 1 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 4 0 1 0 0 0 1
FirmaLab 0 1 0 0 0 0 1 1
Molecular Diagnostics Laboratory,Seoul National University Hospital 0 1 0 0 1 0 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 0 8 0 0 0 0 1 1
CFTR2 0 107 0 1 0 0 0 1
UniProtKB/Swiss-Prot 0 27 0 1 0 0 0 1
Eye Genetics Research Group,Children's Medical Research Institute 0 1 0 0 1 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 0 0 0 0 1 1
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust 0 65 0 0 1 0 0 1
Systems Biology Platform Zhejiang California International NanoSystems Institute 0 0 0 0 0 1 0 1
Unit U781; INSERM (Institut National de la Santé Et de la Recherche Médicale) 0 0 0 1 0 0 0 1
Elahi Laboratory, University of Tehran 0 0 0 0 0 0 1 1
Familial Cancer Clinic,Veneto Institute of Oncology 0 0 0 1 0 0 0 1
Fujian Institute of Hematology,Fujian Medical University 0 0 0 0 0 0 1 1
Human Genetics School of Medicine of Albacete, Castilla-La Mancha University 0 0 0 0 0 0 1 1
Wellcome Centre for Mitochondrial Research,Newcastle University 0 1 0 0 0 0 1 1
Samuels research lab,Centre de Recherche du CHU Ste-Justine 0 0 0 0 0 0 1 1
TilsonLab,Columbia University 0 0 0 0 0 0 1 1
Department of Mental Retardation and Birth Defect Research, National Center of Neurology and Psychiatry 0 1 0 1 0 0 0 1
Unidad de Estudios Geneticos y Forenses,Instituto Venezolano de Investigaciones Cientificas 0 0 0 1 0 0 0 1
Service de Génétique Moléculaire,Hôpital Robert Debré 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
Pediatric Services,National Institutes of Health, Clinical Center 0 0 0 0 1 0 0 1
Department of Neurology, University Hospital of Strasbourg 0 0 0 0 0 0 1 1
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia,Universidade Católica de Brasília 0 0 0 0 0 0 1 1
Care4Rare-SOLVE, CHEO 0 0 0 0 0 0 1 1
Laboratory of Human Genetics,Universidade de São Paulo 0 0 0 1 0 0 0 1
Department of Internal Medicine, University of Texas Health Science Center at Houston 0 0 0 1 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 3 0 1 0 0 0 1
Molecular Oncology Laboratory,Centre Jean Perrin 0 0 0 0 0 1 0 1
Russ Altman Lab,Stanford University 0 0 0 0 0 1 0 1
Centre for Genomic and Experimental Medicine,University of Edinburgh 0 0 0 0 0 0 1 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 0 0 0 0 0 1 1
Dr. Peter K. Rogan Lab,Western University 0 0 0 1 0 0 0 1
Aziz Sancar Institute of Experimental Medicine,Istanbul University 0 0 0 0 0 1 1 1
Center for Human Genetics,University of Leuven 0 3 0 0 0 0 1 1
Genetic Predisposition to Colorectal Cancer Group,Institut d’Investigacions Biomediques August Pi i Sunyer 0 0 0 1 0 0 0 1
Clinical Genetics, Erasmus University Medical Center 0 0 0 0 1 0 0 1
Cardiovascular Biomarker Research Laboratory,Mayo Clinic 0 0 0 0 1 0 0 1
Bioinformatics dept.,Datar Cancer Genetics Limited, India 0 4 0 0 0 0 1 1
Institute of Molecular Biology and Genetics,Federal Almazov North-West Medical Research Centre 0 0 0 1 0 0 0 1
Laboratory of Molecular Genetics,CHU RENNES 0 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 12 0 1 0 0 0 1
Department of Medical Genetics,Gazi University 0 0 0 1 0 0 0 1
Kasturba Medical College,Manipal University 0 0 0 0 1 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 0 0 0 1 0 0 0 1
Endocrine oncology group,Uppsala University 0 0 0 1 0 0 0 1
Yale Center for Mendelian Genomics,Yale University 0 0 0 0 0 0 1 1
Laboratory of Jean-Laurent Casanova,The Rockefeller University 0 0 0 1 0 0 0 1
Section on Medical Neuroendocrinolgy,National Institutes of Health 0 0 0 0 0 0 1 1
Molecular Oncology Laboratory,Hospital Clínico San Carlos 0 4 0 1 0 0 0 1
AlTemaimi Lab, Faculty of Medicine,Kuwait University 0 0 0 0 0 0 1 1
Medical & Molecular Genetics Group,University of Lincoln 0 0 0 0 0 0 1 1
Snyder Lab, Genetics Department,Stanford University 0 0 0 0 0 1 0 1
Tolun Lab, Human Genetics Laboratory,Bogazici University 0 0 0 0 1 0 0 1
Human Molecular Genetics Laboratory,Federal University of Parana 0 0 0 1 0 0 0 1
Translational Research Program on Neuronal Ceroid Lipofuscinosis,Center for the Study of Inborn Errors of Metabolism 0 1 0 1 0 0 0 1
Department Of Genetics,Lifeline Super Speciality Hospital, Adoor. 0 0 0 1 0 0 0 1
Molecular Medicine,University of Leeds 0 0 0 1 0 0 0 1
Tartaglia Lab, Genetics and Rare Diseases Research Division,Bambino Gesu' Children's Hospital 0 0 0 1 0 0 0 1
ClinGen RASopathy Variant Curation Expert Panel 0 7 0 1 0 0 0 1
Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades,CHU Paris - Hôpital Necker-Enfants Malades 0 1 0 1 0 0 0 1
Laboratory of Molecular Neuropathology,The University of Texas Health Science Center at Houston 0 0 0 0 0 0 1 1
Pediatric Immunology Service,The Chaim Sheba Medical Center at Tel HaShomer 0 0 0 0 1 0 0 1
Laboratory of Medical Genetics, INSERM 0 0 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 2 0 1 0 0 0 1
College of Science, Al Muthanna University,Al Muthanna University 0 0 0 1 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 8 0 0 0 0 1 1
Liping Wei Laboratory,Peking University 0 0 0 1 0 0 0 1
Clinical Cancer Genetics and Family Consultants,Athens Medical Center 0 0 0 0 0 0 1 1
Lab. Molecular Oncology,VUB, Free University of Brussels 0 2 0 0 1 0 0 1
Institute of Clinical Molecular Biology,Kiel University 0 0 0 0 0 0 1 1
National Institute of Sensory Organs,National Hospital Organization Tokyo Medical Center 0 0 0 0 0 1 0 1
Pharmacogenomics Lab,Chungbuk National University 0 0 0 0 0 1 0 1
Klaassen Lab,Charite University Medicine Berlin 0 1 0 0 1 0 0 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 0 1 0 1 0 0 1 1
Institute for Human Genetics,University Hospital Essen 0 0 0 1 0 0 0 1
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center 0 0 0 1 0 0 0 1
Difficult and Complicated Liver Diseases and Artificial Liver Center,Beijing You An Hospital, Capital Medical University 0 0 0 1 0 0 0 1
Breda Genetics srl 0 0 0 0 0 0 1 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 1 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 3199
Download table as spreadsheet
HGVS dbSNP
NC_000012.11:g.88465636C>G
NC_000015.9:g.68504037_68504039delGAT rs121908080
NM_000016.5(ACADM):c.698T>C (p.Ile233Thr) rs770273135
NM_000016.5(ACADM):c.985A>G (p.Lys329Glu) rs77931234
NM_000016.6(ACADM):c.201T>A (p.Tyr67Ter)
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.1367G>A (p.Arg456His) rs794727112
NM_000018.4(ACADVL):c.1600G>A (p.Glu534Lys) rs2230180
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln) rs398123084
NM_000020.2(ACVRL1):c.88C>T (p.Pro30Ser) rs149664056
NM_000022.2(ADA):c.22G>A (p.Asp8Asn) rs73598374
NM_000022.4(ADA):c.425G>A (p.Arg142Gln) rs61732239
NM_000023.4(SGCA):c.724G>T (p.Val242Phe) rs200166783
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met) rs4426527
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn) rs115014558
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr) rs140992177
NM_000032.5(ALAS2):c.1559C>T (p.Pro520Leu) rs201062903
NM_000032.5(ALAS2):c.1757A>T (p.Tyr586Phe) rs139596860
NM_000033.4(ABCD1):c.1489-6del rs398123101
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro) rs201774661
NM_000033.4(ABCD1):c.707G>A (p.Arg236His) rs201455322
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val) rs150151955
NM_000037.4(ANK1):c.5544+91C>T rs72638959
NM_000038.5(APC):c.-30197C>A rs917976853
NM_000038.6(APC):c.1139G>A (p.Arg380Gln) rs587782886
NM_000038.6(APC):c.1604C>T (p.Ser535Phe) rs75870842
NM_000038.6(APC):c.1631T>C (p.Ile544Thr) rs144056494
NM_000038.6(APC):c.1959G>A (p.Arg653=) rs72541809
NM_000038.6(APC):c.2204C>T (p.Ala735Val) rs147655929
NM_000038.6(APC):c.2232T>G (p.Ser744=) rs145751759
NM_000038.6(APC):c.2593C>T (p.Pro865Ser) rs192620988
NM_000038.6(APC):c.2627G>A (p.Arg876Gln) rs373428732
NM_000038.6(APC):c.2805C>T (p.Tyr935=) rs137854575
NM_000038.6(APC):c.2847G>T (p.Met949Ile) rs147394539
NM_000038.6(APC):c.2948T>C (p.Ile983Thr) rs113674464
NM_000038.6(APC):c.295C>T (p.Arg99Trp) rs139196838
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly) rs148725540
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.3479C>A (p.Thr1160Lys) rs201004111
NM_000038.6(APC):c.3511C>T (p.Arg1171Cys) rs201830995
NM_000038.6(APC):c.3625G>A (p.Glu1209Lys) rs201185479
NM_000038.6(APC):c.388A>G (p.Ser130Gly) rs150973053
NM_000038.6(APC):c.3910A>G (p.Ile1304Val) rs770157475
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.423-3T>A rs587782293
NM_000038.6(APC):c.4237A>G (p.Met1413Val) rs141519952
NM_000038.6(APC):c.4333A>G (p.Thr1445Ala) rs587780597
NM_000038.6(APC):c.4336G>A (p.Ala1446Thr) rs146572883
NM_000038.6(APC):c.4360A>G (p.Lys1454Glu) rs111866410
NM_000038.6(APC):c.4372C>T (p.Pro1458Ser) rs143796828
NM_000038.6(APC):c.4420G>A (p.Ala1474Thr) rs139387758
NM_000038.6(APC):c.450A>G (p.Lys150=) rs116020626
NM_000038.6(APC):c.4765C>G (p.Arg1589Gly) rs72541813
NM_000038.6(APC):c.5009C>T (p.Ala1670Val) rs202228932
NM_000038.6(APC):c.5026A>G (p.Arg1676Gly) rs370560998
NM_000038.6(APC):c.5140G>A (p.Asp1714Asn) rs148275069
NM_000038.6(APC):c.5225G>A (p.Arg1742His) rs199775075
NM_000038.6(APC):c.5392A>G (p.Asn1798Asp) rs200794097
NM_000038.6(APC):c.5690A>C (p.His1897Pro) rs112610898
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu) rs587780600
NM_000038.6(APC):c.5912C>G (p.Ser1971Cys) rs754691867
NM_000038.6(APC):c.607C>G (p.Gln203Glu) rs141576417
NM_000038.6(APC):c.647G>A (p.Arg216Gln) rs76685252
NM_000038.6(APC):c.6510A>C (p.Pro2170=) rs138571760
NM_000038.6(APC):c.6609T>C (p.Val2203=) rs149328018
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly) rs201375478
NM_000038.6(APC):c.6821C>T (p.Ala2274Val) rs34919187
NM_000038.6(APC):c.6857C>T (p.Ala2286Val) rs200587641
NM_000038.6(APC):c.6873A>T (p.Gln2291His) rs148878262
NM_000038.6(APC):c.6965A>G (p.Gln2322Arg) rs1057517549
NM_000038.6(APC):c.6985A>G (p.Ile2329Val) rs146048493
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr) rs372305287
NM_000038.6(APC):c.7490C>T (p.Ser2497Leu) rs141010008
NM_000038.6(APC):c.7514G>A (p.Arg2505Gln) rs147549623
NM_000038.6(APC):c.757G>A (p.Gly253Ser) rs772806807
NM_000038.6(APC):c.7625A>G (p.Asn2542Ser) rs151163793
NM_000038.6(APC):c.7778A>G (p.Asn2593Ser) rs367676584
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.7888G>A (p.Val2630Ile) rs199688874
NM_000038.6(APC):c.8134C>T (p.Pro2712Ser) rs76933416
NM_000038.6(APC):c.8141G>A (p.Arg2714His) rs747362422
NM_000038.6(APC):c.8383G>A (p.Ala2795Thr) rs369264968
NM_000038.6(APC):c.8389A>G (p.Ser2797Gly) rs147287751
NM_000038.6(APC):c.848G>A (p.Arg283Gln) rs149154604
NM_000038.6(APC):c.933+30A>G rs145211300
NM_000038.6(APC):c.95A>G (p.Asn32Ser) rs539108537
NM_000044.6(AR):c.1174C>T (p.Pro392Ser) rs201934623
NM_000045.4(ARG1):c.923G>A (p.Arg308Gln) rs377280518
NM_000046.5(ARSB):c.98C>T (p.Ala33Val) rs201168448
NM_000048.4(ASL):c.1255_1256del (p.Leu419fs) rs757109353
NM_000048.4(ASL):c.392C>T (p.Thr131Met) rs143793815
NM_000050.4(ASS1):c.323G>T rs35269064
NM_000051.3(ATM):c.-15C>T rs1204830852
NM_000051.3(ATM):c.-328A>T rs4987880
NM_000051.3(ATM):c.1010G>A (p.Arg337His) rs202160435
NM_000051.3(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.3(ATM):c.1065+1G>T rs201089102
NM_000051.3(ATM):c.1066-6T>G rs201686625
NM_000051.3(ATM):c.1082C>A (p.Thr361Asn) rs1565378803
NM_000051.3(ATM):c.1229T>C (p.Val410Ala) rs56128736
NM_000051.3(ATM):c.1236-2A>G rs80159221
NM_000051.3(ATM):c.1236-2A>T rs80159221
NM_000051.3(ATM):c.1236-3del rs34325032
NM_000051.3(ATM):c.1240C>T (p.Gln414Ter) rs866521873
NM_000051.3(ATM):c.125A>G (p.His42Arg) rs201773026
NM_000051.3(ATM):c.1272T>C (p.Pro424=) rs35578748
NM_000051.3(ATM):c.1444A>C (p.Lys482Gln) rs202173660
NM_000051.3(ATM):c.1516G>T (p.Gly506Cys) rs587779816
NM_000051.3(ATM):c.1541G>A (p.Gly514Asp) rs2235000
NM_000051.3(ATM):c.1595G>A (p.Cys532Tyr) rs35963548
NM_000051.3(ATM):c.1703G>T (p.Arg568Ile) rs200381392
NM_000051.3(ATM):c.1744T>C (p.Phe582Leu) rs2235006
NM_000051.3(ATM):c.1810C>T (p.Pro604Ser) rs2227922
NM_000051.3(ATM):c.2021A>G (p.His674Arg) rs201762714
NM_000051.3(ATM):c.2096A>G (p.Glu699Gly) rs147934285
NM_000051.3(ATM):c.2289T>A (p.Phe763Leu) rs34231402
NM_000051.3(ATM):c.2362A>C (p.Ser788Arg) rs641252
NM_000051.3(ATM):c.2494C>T (p.Arg832Cys) rs2229022
NM_000051.3(ATM):c.2606C>G (p.Ala869Gly) rs145513717
NM_000051.3(ATM):c.2608A>G (p.Asn870Asp) rs61734354
NM_000051.3(ATM):c.2735A>G (p.Gln912Arg) rs730881353
NM_000051.3(ATM):c.2778A>G (p.Lys926=) rs372569168
NM_000051.3(ATM):c.2804C>T (p.Thr935Met) rs3218708
NM_000051.3(ATM):c.2922-8T>A rs545892367
NM_000051.3(ATM):c.2922-8del rs373881770
NM_000051.3(ATM):c.2927T>C (p.Val976Ala) rs146145357
NM_000051.3(ATM):c.2932T>C (p.Ser978Pro) rs139552233
NM_000051.3(ATM):c.295A>G (p.Ser99Gly) rs137882485
NM_000051.3(ATM):c.3077+4G>A rs201222237
NM_000051.3(ATM):c.3154-5C>T rs55719759
NM_000051.3(ATM):c.320G>A (p.Cys107Tyr) rs142358238
NM_000051.3(ATM):c.3299C>T (p.Thr1100Met) rs189445371
NM_000051.3(ATM):c.3342G>A (p.Lys1114=) rs138393322
NM_000051.3(ATM):c.334G>A (p.Ala112Thr) rs146382972
NM_000051.3(ATM):c.3613C>T (p.Arg1205Cys) rs760928285
NM_000051.3(ATM):c.3925G>A (p.Ala1309Thr) rs149711770
NM_000051.3(ATM):c.4060C>A (p.Pro1354Thr) rs145119475
NM_000051.3(ATM):c.4167A>G (p.Thr1389=) rs183214437
NM_000051.3(ATM):c.4388T>G (p.Phe1463Cys) rs138327406
NM_000051.3(ATM):c.4402G>A (p.Val1468Ile) rs369903995
NM_000051.3(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941
NM_000051.3(ATM):c.4473C>T (p.Phe1491=) rs4988008
NM_000051.3(ATM):c.4709T>C (p.Val1570Ala) rs140856217
NM_000051.3(ATM):c.4802G>A (p.Ser1601Asn) rs587782506
NM_000051.3(ATM):c.496+4T>C rs587781375
NM_000051.3(ATM):c.5071A>C (p.Ser1691Arg) rs1800059
NM_000051.3(ATM):c.5185G>C (p.Val1729Leu) rs3092907
NM_000051.3(ATM):c.5352C>T (p.Asn1784=) rs140641762
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.5712dup (p.Ser1905fs) rs587781730
NM_000051.3(ATM):c.5821G>C (p.Val1941Leu) rs147187700
NM_000051.3(ATM):c.5890A>G (p.Lys1964Glu) rs201963507
NM_000051.3(ATM):c.5975A>C (p.Lys1992Thr) rs150757822
NM_000051.3(ATM):c.6067G>A (p.Gly2023Arg) rs11212587
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.6176C>T (p.Thr2059Ile) rs144761622
NM_000051.3(ATM):c.6347+31del rs58978479
NM_000051.3(ATM):c.6348-9A>T
NM_000051.3(ATM):c.6355G>T (p.Val2119Leu) rs1266938537
NM_000051.3(ATM):c.640del (p.Ser214fs) rs786204543
NM_000051.3(ATM):c.6543G>T (p.Glu2181Asp) rs138828590
NM_000051.3(ATM):c.6573-41del
NM_000051.3(ATM):c.6681C>T (p.Arg2227=) rs775850434
NM_000051.3(ATM):c.6820G>A (p.Ala2274Thr) rs567060474
NM_000051.3(ATM):c.6860G>C (p.Gly2287Ala) rs1800061
NM_000051.3(ATM):c.6919C>T (p.Leu2307Phe) rs56009889
NM_000051.3(ATM):c.6975G>A (p.Ala2325=) rs556778314
NM_000051.3(ATM):c.6988C>G (p.Leu2330Val) rs148432863
NM_000051.3(ATM):c.7187C>G (p.Thr2396Ser) rs370559102
NM_000051.3(ATM):c.7313C>T (p.Thr2438Ile) rs147604227
NM_000051.3(ATM):c.7390T>C (p.Cys2464Arg) rs55801750
NM_000051.3(ATM):c.749G>A (p.Arg250Gln) rs56123940
NM_000051.3(ATM):c.7629+12_7629+15del rs1555124156
NM_000051.3(ATM):c.7740A>C (p.Arg2580Ser) rs199915459
NM_000051.3(ATM):c.7788+8G>T rs112775908
NM_000051.3(ATM):c.7789-3T>G rs864622185
NM_000051.3(ATM):c.7816A>G (p.Ile2606Val) rs376824528
NM_000051.3(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro) rs267606668
NM_000051.3(ATM):c.7913G>A (p.Trp2638Ter) rs377349459
NM_000051.3(ATM):c.8122G>A (p.Asp2708Asn) rs587782719
NM_000051.3(ATM):c.8269-14A>T rs114320959
NM_000051.3(ATM):c.8494C>T (p.Arg2832Cys) rs587779872
NM_000051.3(ATM):c.8560C>T (p.Arg2854Cys) rs201958469
NM_000051.3(ATM):c.8592C>T (p.Tyr2864=) rs56025670
NM_000051.3(ATM):c.8671+9T>G rs200190537
NM_000051.3(ATM):c.8921C>T (p.Pro2974Leu) rs139379666
NM_000051.3(ATM):c.9022C>T (p.Arg3008Cys) rs587782292
NM_000051.3(ATM):c.9086G>A (p.Gly3029Asp) rs201199629
NM_000051.3(ATM):c.9166G>T (p.Val3056Leu) rs371767164
NM_000051.3(ATM):c.94C>T (p.Arg32Cys) rs148061139
NM_000051.3(ATM):c.998C>T (p.Ser333Phe) rs28904919
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly) rs138958687
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259
NM_000053.4(ATP7B):c.2575+1G>A rs766149114
NM_000053.4(ATP7B):c.3061-12T>A rs1045194246
NM_000053.4(ATP7B):c.3101A>G (p.His1034Arg) rs74085882
NM_000053.4(ATP7B):c.3548C>G (p.Ala1183Gly) rs587783315
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg) rs7334118
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile) rs148399850
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser) rs181250704
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317
NM_000053.4(ATP7B):c.51+4A>T rs369488210
NM_000054.6(AVPR2):c.382_384del (p.Tyr128del) rs1557100594
NM_000054.6(AVPR2):c.744_755del (p.Arg249_Arg252del)
NM_000057.4(BLM):c.114A>G (p.Lys38=) rs770017301
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057
NM_000057.4(BLM):c.1315A>G (p.Met439Val) rs201231857
NM_000057.4(BLM):c.1601A>G (p.Asn534Ser) rs35224686
NM_000057.4(BLM):c.205G>A (p.Glu69Lys) rs746195311
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser) rs146077918
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu) rs142551229
NM_000057.4(BLM):c.2475G>A (p.Pro825=) rs147587050
NM_000057.4(BLM):c.254G>C (p.Arg85Thr) rs141503266
NM_000057.4(BLM):c.2898C>G (p.Leu966=) rs201220226
NM_000057.4(BLM):c.296_297CA[1] (p.Gln100fs) rs745807085
NM_000057.4(BLM):c.3041A>G (p.His1014Arg) rs145022945
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser) rs367543029
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile) rs28385141
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr) rs1801256
NM_000057.4(BLM):c.3934G>A (p.Ala1312Thr) rs527291754
NM_000057.4(BLM):c.4076+4T>G rs183176301
NM_000057.4(BLM):c.4077-10C>T rs145310008
NM_000057.4(BLM):c.43C>T (p.Arg15Cys) rs148545569
NM_000059.3(BRCA2):c.*15G>A rs376501142
NM_000059.3(BRCA2):c.-39-12_-39-10del rs276174798
NM_000059.3(BRCA2):c.-39-5del rs276174800
NM_000059.3(BRCA2):c.-41G>A rs879255312
NM_000059.3(BRCA2):c.10045A>G (p.Thr3349Ala) rs80358387
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.10150C>T (p.Arg3384Ter) rs397507568
NM_000059.3(BRCA2):c.10202C>T (p.Thr3401Met) rs55853199
NM_000059.3(BRCA2):c.10250A>G (p.Tyr3417Cys) rs730881600
NM_000059.3(BRCA2):c.1096T>G (p.Leu366Val) rs587779357
NM_000059.3(BRCA2):c.1114A>C (p.Asn372His) rs144848
NM_000059.3(BRCA2):c.1123C>T (p.Pro375Ser) rs80358408
NM_000059.3(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475
NM_000059.3(BRCA2):c.1181A>C (p.Glu394Ala) rs56016241
NM_000059.3(BRCA2):c.122C>T (p.Pro41Leu) rs786201716
NM_000059.3(BRCA2):c.1247T>G (p.Ile416Ser) rs80358418
NM_000059.3(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046
NM_000059.3(BRCA2):c.1272A>G (p.Ser424=) rs587780531
NM_000059.3(BRCA2):c.1343G>A (p.Arg448His) rs80358423
NM_000059.3(BRCA2):c.1385A>G (p.Glu462Gly) rs56403624
NM_000059.3(BRCA2):c.1504A>C (p.Lys502Gln) rs276174809
NM_000059.3(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708
NM_000059.3(BRCA2):c.1550A>G (p.Asn517Ser) rs80358439
NM_000059.3(BRCA2):c.1564G>C (p.Gly522Arg) rs80358442
NM_000059.3(BRCA2):c.1662T>G (p.Cys554Trp) rs80358451
NM_000059.3(BRCA2):c.1744A>C (p.Thr582Pro) rs80358457
NM_000059.3(BRCA2):c.1786G>C (p.Asp596His) rs56328701
NM_000059.3(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710
NM_000059.3(BRCA2):c.1813dupA (p.Ile605Asnfs) rs80359306
NM_000059.3(BRCA2):c.1820A>C (p.Lys607Thr) rs55962656
NM_000059.3(BRCA2):c.1909+22del rs276174816
NM_000059.3(BRCA2):c.1909+22dup rs276174816
NM_000059.3(BRCA2):c.1909+9_1909+10del rs527732001
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.2127G>C (p.Leu709=) rs554040246
NM_000059.3(BRCA2):c.2138A>T (p.Gln713Leu) rs55816687
NM_000059.3(BRCA2):c.2233A>G (p.Lys745Glu) rs374691587
NM_000059.3(BRCA2):c.223G>C (p.Ala75Pro) rs28897701
NM_000059.3(BRCA2):c.2274T>G (p.Ser758Arg) rs142243359
NM_000059.3(BRCA2):c.229A>G (p.Thr77Ala) rs80358500
NM_000059.3(BRCA2):c.231T>G (p.Thr77=) rs114446594
NM_000059.3(BRCA2):c.2350A>G (p.Met784Val) rs11571653
NM_000059.3(BRCA2):c.241T>A (p.Phe81Ile) rs80358507
NM_000059.3(BRCA2):c.2589T>A (p.Asn863Lys) rs80358521
NM_000059.3(BRCA2):c.2601T>G (p.Thr867=) rs730881589
NM_000059.3(BRCA2):c.2755G>A (p.Glu919Lys) rs431825298
NM_000059.3(BRCA2):c.2771A>T (p.Asn924Ile) rs80358530
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.280C>T (p.Pro94Ser) rs80358531
NM_000059.3(BRCA2):c.2883G>A (p.Gln961=) rs11571655
NM_000059.3(BRCA2):c.2918C>T (p.Ser973Leu) rs397507296
NM_000059.3(BRCA2):c.2926T>A (p.Ser976Thr) rs144862123
NM_000059.3(BRCA2):c.2927C>T (p.Ser976Phe) rs11571656
NM_000059.3(BRCA2):c.2946A>G (p.Ile982Met) rs80358541
NM_000059.3(BRCA2):c.2987T>G (p.Leu996Arg) rs80358545
NM_000059.3(BRCA2):c.3032C>G (p.Thr1011Arg) rs80358548
NM_000059.3(BRCA2):c.3055C>G (p.Leu1019Val) rs55638633
NM_000059.3(BRCA2):c.3088T>G (p.Phe1030Val) rs80358554
NM_000059.3(BRCA2):c.316+5G>A rs81002840
NM_000059.3(BRCA2):c.317-22C>T rs81002794
NM_000059.3(BRCA2):c.322A>C (p.Asn108His) rs80358567
NM_000059.3(BRCA2):c.3264dupT (p.Gln1089Serfs) rs80359380
NM_000059.3(BRCA2):c.3299A>T (p.Asn1100Ile) rs80358575
NM_000059.3(BRCA2):c.3445A>G (p.Met1149Val) rs80358589
NM_000059.3(BRCA2):c.3509C>T (p.Ala1170Val) rs80358599
NM_000059.3(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600
NM_000059.3(BRCA2):c.3539A>G (p.Lys1180Arg) rs28897720
NM_000059.3(BRCA2):c.353G>A (p.Arg118His) rs80358603
NM_000059.3(BRCA2):c.3568C>T (p.Arg1190Trp) rs80358604
NM_000059.3(BRCA2):c.3581G>A (p.Gly1194Asp) rs28897721
NM_000059.3(BRCA2):c.3682A>G (p.Asn1228Asp) rs28897722
NM_000059.3(BRCA2):c.3715A>G (p.Lys1239Glu) rs374191973
NM_000059.3(BRCA2):c.375T>A (p.Asp125Glu) rs80358616
NM_000059.3(BRCA2):c.3767A>C (p.His1256Pro) rs80358618
NM_000059.3(BRCA2):c.3786A>T (p.Ser1262=) rs1042077901
NM_000059.3(BRCA2):c.3814A>G (p.Met1272Val) rs80358624
NM_000059.3(BRCA2):c.3858_3860del (p.Lys1286del) rs80359406
NM_000059.3(BRCA2):c.3861_3863TAA[1] (p.Asn1288del) rs276174837
NM_000059.3(BRCA2):c.3910A>G (p.Thr1304Ala) rs28897723
NM_000059.3(BRCA2):c.4023A>C (p.Ser1341=) rs276174840
NM_000059.3(BRCA2):c.4061C>T (p.Thr1354Met) rs80358656
NM_000059.3(BRCA2):c.4068G>A (p.Leu1356=) rs28897724
NM_000059.3(BRCA2):c.4187A>G (p.Gln1396Arg) rs55969723
NM_000059.3(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727
NM_000059.3(BRCA2):c.440A>G (p.Gln147Arg) rs80358674
NM_000059.3(BRCA2):c.4570T>G (p.Phe1524Val) rs56386506
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.4670C>G (p.Thr1557Ser) rs80358698
NM_000059.3(BRCA2):c.467A>G (p.Asp156Gly) rs68071147
NM_000059.3(BRCA2):c.4928T>C (p.Val1643Ala) rs28897731
NM_000059.3(BRCA2):c.4963del (p.Tyr1655fs) rs886040557
NM_000059.3(BRCA2):c.502C>A (p.Pro168Thr) rs80358726
NM_000059.3(BRCA2):c.516+14C>T rs182828913
NM_000059.3(BRCA2):c.517-4C>G rs81002804
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.5611_5615AGTAA[1] (p.Lys1872fs) rs80359525
NM_000059.3(BRCA2):c.5612G>A (p.Ser1871Asn) rs80358782
NM_000059.3(BRCA2):c.5634C>G (p.Asn1878Lys) rs80358784
NM_000059.3(BRCA2):c.5640T>G (p.Asn1880Lys) rs11571657
NM_000059.3(BRCA2):c.5710C>G (p.Leu1904Val) rs55875643
NM_000059.3(BRCA2):c.5729A>T (p.Asn1910Ile) rs276174863
NM_000059.3(BRCA2):c.5800C>T (p.Gln1934Ter) rs886040610
NM_000059.3(BRCA2):c.5882G>A (p.Ser1961Asn) rs80358820
NM_000059.3(BRCA2):c.5885T>C (p.Ile1962Thr) rs1060502377
NM_000059.3(BRCA2):c.5946del (p.Ser1982fs) rs80359550
NM_000059.3(BRCA2):c.6037A>T (p.Lys2013Ter) rs80358840
NM_000059.3(BRCA2):c.6039del (p.Val2014fs) rs876660637
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.6125A>C (p.Gln2042Pro) rs80358852
NM_000059.3(BRCA2):c.6131G>T (p.Gly2044Val) rs56191579
NM_000059.3(BRCA2):c.6290C>T (p.Thr2097Met) rs80358866
NM_000059.3(BRCA2):c.631+25C>T rs367871824
NM_000059.3(BRCA2):c.6323G>A (p.Arg2108His) rs35029074
NM_000059.3(BRCA2):c.6338A>G (p.Asn2113Ser) rs80358874
NM_000059.3(BRCA2):c.6362A>G (p.Glu2121Gly) rs397507846
NM_000059.3(BRCA2):c.6399_6401del (p.Asn2135del) rs80359581
NM_000059.3(BRCA2):c.6405_6409del (p.Asn2135fs) rs80359584
NM_000059.3(BRCA2):c.6443C>A (p.Ser2148Tyr) rs80358880
NM_000059.3(BRCA2):c.6665A>G (p.Tyr2222Cys) rs397507875
NM_000059.3(BRCA2):c.670G>A (p.Asp224Asn) rs876660484
NM_000059.3(BRCA2):c.68-7T>A rs81002830
NM_000059.3(BRCA2):c.6803G>A (p.Arg2268Lys) rs80358906
NM_000059.3(BRCA2):c.6842-19A>G rs81002865
NM_000059.3(BRCA2):c.6853A>G (p.Ile2285Val) rs56272235
NM_000059.3(BRCA2):c.6935A>T (p.Asp2312Val) rs80358916
NM_000059.3(BRCA2):c.6937+565T>C rs11571675
NM_000059.3(BRCA2):c.6937+594T>G rs191253965
NM_000059.3(BRCA2):c.6938-1G>A rs886040936
NM_000059.3(BRCA2):c.6953G>A (p.Arg2318Gln) rs80358921
NM_000059.3(BRCA2):c.7007G>A (p.Arg2336His) rs28897743
NM_000059.3(BRCA2):c.7008-62A>G rs76584943
NM_000059.3(BRCA2):c.7050C>T (p.Thr2350=) rs587780870
NM_000059.3(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008
NM_000059.3(BRCA2):c.7307A>T (p.Asn2436Ile) rs80358955
NM_000059.3(BRCA2):c.7397= (p.Ala2466=) rs169547
NM_000059.3(BRCA2):c.742G>A (p.Ala248Thr) rs55854959
NM_000059.3(BRCA2):c.7435+6G>A rs81002852
NM_000059.3(BRCA2):c.7463G>A (p.Arg2488Lys) rs80358968
NM_000059.3(BRCA2):c.7481G>A (p.Arg2494Gln) rs80358973
NM_000059.3(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624
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.7565C>T (p.Ser2522Phe) rs80358985
NM_000059.3(BRCA2):c.7618-19G>T rs371417084
NM_000059.3(BRCA2):c.7618-21G>T rs376957350
NM_000059.3(BRCA2):c.7712A>G (p.Glu2571Gly) rs55689095
NM_000059.3(BRCA2):c.7792_7794GAA[1] (p.Glu2599del) rs80359682
NM_000059.3(BRCA2):c.7805+13A>G rs149769332
NM_000059.3(BRCA2):c.793+1G>A rs81002846
NM_000059.3(BRCA2):c.7964A>G (p.Gln2655Arg) rs80359024
NM_000059.3(BRCA2):c.7976+12G>A rs81002827
NM_000059.3(BRCA2):c.7976+23C>T rs183623188
NM_000059.3(BRCA2):c.7985C>T (p.Thr2662Met) rs431825362
NM_000059.3(BRCA2):c.7992T>A (p.Ile2664=) rs80359800
NM_000059.3(BRCA2):c.7994A>G (p.Asp2665Gly) rs28897745
NM_000059.3(BRCA2):c.8036A>G (p.Asp2679Gly) rs80359041
NM_000059.3(BRCA2):c.8067T>A (p.Cys2689Ter) rs80359046
NM_000059.3(BRCA2):c.8092G>A (p.Ala2698Thr) rs80359052
NM_000059.3(BRCA2):c.811G>A (p.Gly271Arg) rs786204274
NM_000059.3(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747
NM_000059.3(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749
NM_000059.3(BRCA2):c.8187G>T (p.Lys2729Asn) rs80359065
NM_000059.3(BRCA2):c.8243G>A (p.Gly2748Asp) rs80359071
NM_000059.3(BRCA2):c.8324T>G (p.Met2775Arg) rs80359073
NM_000059.3(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075
NM_000059.3(BRCA2):c.8351G>A (p.Arg2784Gln) rs80359076
NM_000059.3(BRCA2):c.8360G>A (p.Arg2787His) rs80359078
NM_000059.3(BRCA2):c.8487+8G>A rs81002838
NM_000059.3(BRCA2):c.8488-1G>A rs397507404
NM_000059.3(BRCA2):c.8488-2A>C rs773272765
NM_000059.3(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746
NM_000059.3(BRCA2):c.8524C>T (p.Arg2842Cys) rs80359104
NM_000059.3(BRCA2):c.8633-16C>G rs81002818
NM_000059.3(BRCA2):c.8647C>T (p.Pro2883Ser) rs80359122
NM_000059.3(BRCA2):c.8668C>A (p.Leu2890Ile) rs80359127
NM_000059.3(BRCA2):c.8702G>A (p.Gly2901Asp) rs80359129
NM_000059.3(BRCA2):c.8755-1G>A rs81002812
NM_000059.3(BRCA2):c.8764A>G (p.Ser2922Gly) rs80359132
NM_000059.3(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000059.3(BRCA2):c.8854A>G (p.Met2952Val) rs397508016
NM_000059.3(BRCA2):c.8918G>A (p.Arg2973His) rs80359143
NM_000059.3(BRCA2):c.8997G>A (p.Leu2999=) rs80359804
NM_000059.3(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755
NM_000059.3(BRCA2):c.9041C>G (p.Ser3014Ter) rs80359156
NM_000059.3(BRCA2):c.9043A>G (p.Lys3015Glu) rs587781497
NM_000059.3(BRCA2):c.9116C>T (p.Pro3039Leu) rs80359167
NM_000059.3(BRCA2):c.9154C>T (p.Arg3052Trp) rs45580035
NM_000059.3(BRCA2):c.9235G>A (p.Val3079Ile) rs55933907
NM_000059.3(BRCA2):c.9242T>C (p.Val3081Ala) rs80359189
NM_000059.3(BRCA2):c.9257-8C>T rs11571819
NM_000059.3(BRCA2):c.9271G>A (p.Val3091Ile) rs80359194
NM_000059.3(BRCA2):c.9275A>G (p.Tyr3092Cys) rs80359195
NM_000059.3(BRCA2):c.9292T>C (p.Tyr3098His) rs41293521
NM_000059.3(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759
NM_000059.3(BRCA2):c.9374T>A (p.Leu3125His) rs80359209
NM_000059.3(BRCA2):c.9375C>G (p.Leu3125=) rs276174924
NM_000059.3(BRCA2):c.9442G>T (p.Ala3148Ser) rs949790323
NM_000059.3(BRCA2):c.9458G>C (p.Gly3153Ala) rs80359220
NM_000059.3(BRCA2):c.9501+3A>T rs61757642
NM_000059.3(BRCA2):c.9501+9A>C rs81002867
NM_000059.3(BRCA2):c.9502-12T>G rs81002803
NM_000059.3(BRCA2):c.9521A>G (p.Asn3174Ser) rs1555289773
NM_000059.3(BRCA2):c.956A>C (p.Asn319Thr) rs55939572
NM_000059.3(BRCA2):c.9634G>C (p.Gly3212Arg) rs55775473
NM_000059.3(BRCA2):c.9645T>A (p.Leu3215=) rs755111487
NM_000059.3(BRCA2):c.964A>C (p.Lys322Gln) rs11571640
NM_000059.3(BRCA2):c.9677A>G (p.Tyr3226Cys) rs80359237
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.9925G>A (p.Glu3309Lys) rs80359251
NM_000059.3(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833
NM_000059.3(BRCA2):c.9986A>G (p.Asn3329Ser) rs76635144
NM_000060.3(BTD):c.310-15delT rs587783008
NM_000061.2(BTK):c.141+11C>T rs138411530
NM_000061.3(BTK):c.1252T>C (p.Tyr418His)
NM_000063.6(C2):c.954G>C (p.Glu318Asp) rs9332739
NM_000064.4(C3):c.1407G>C (p.Glu469Asp) rs11569422
NM_000067.3(CA2):c.754A>G (p.Asn252Asp) rs2228063
NM_000070.3(CAPN3):c.479C>G (p.Ala160Gly) rs17592
NM_000071.2(CBS):c.1316G>A (p.Arg439Gln) rs756467921
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA rs876657421
NM_000075.4(CDK4):c.122A>G (p.Asn41Ser) rs144890720
NM_000075.4(CDK4):c.632+9C>T rs1192976748
NM_000075.4(CDK4):c.660C>T (p.Ala220=) rs773490152
NM_000075.4(CDK4):c.661G>A (p.Asp221Asn) rs587778187
NM_000075.4(CDK4):c.776C>T (p.Ser259Leu) rs201617914
NM_000077.4(CDKN2A):c.-25C>T rs144481587
NM_000077.4(CDKN2A):c.-34G>A rs1800586
NM_000077.4(CDKN2A):c.150+37G>C rs45456595
NM_000077.4(CDKN2A):c.170C>T (p.Ala57Val) rs372266620
NM_000077.4(CDKN2A):c.197A>G (p.His66Arg) rs756750256
NM_000077.4(CDKN2A):c.250G>A (p.Asp84Asn) rs11552822
NM_000077.4(CDKN2A):c.298G>T (p.Ala100Ser) rs200863613
NM_000077.4(CDKN2A):c.318G>A (p.Val106=) rs199888003
NM_000077.4(CDKN2A):c.369T>A (p.His123Gln) rs6413463
NM_000077.4(CDKN2A):c.379G>T (p.Ala127Ser) rs6413464
NM_000077.4(CDKN2A):c.384G>A (p.Arg128=) rs199901898
NM_000077.4(CDKN2A):c.430C>T (p.Arg144Cys) rs116150891
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531
NM_000086.2(CLN3):c.1059C>A (p.Cys353Ter) rs1057516677
NM_000088.3(COL1A1):c.1583G>A (p.Arg528His) rs144751329
NM_000088.3(COL1A1):c.1984-5C>A rs66592376
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_000091.4(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125
NM_000092.4(COL4A4):c.3979G>A (p.Val1327Met) rs2229813
NM_000092.4(COL4A4):c.4760C>G (p.Pro1587Arg) rs190148408
NM_000096.4(CP):c.1652C>T (p.Thr551Ile) rs61733458
NM_000096.4(CP):c.2684G>C (p.Gly895Ala) rs139633388
NM_000098.3(CPT2):c.1883A>C (p.Tyr628Ser) rs28936673
NM_000098.3(CPT2):c.1939A>G (p.Met647Val) rs1799822
NM_000101.4(CYBA):c.214T>C (p.Tyr72His) rs4673
NM_000104.3(CYP1B1):c.685G>A (p.Glu229Lys) rs57865060
NM_000108.5(DLD):c.439-7T>C rs10263341
NM_000109.4(DMD):c.1074A>T (p.Gly358=) rs72470507
NM_000109.4(DMD):c.1294G>A (p.Glu432Lys) rs189143447
NM_000109.4(DMD):c.3579+2_3579+3insTA
NM_000109.4(DMD):c.70-1G>T rs863225016
NM_000109.4(DMD):c.7547G>A (p.Arg2516His) rs151244052
NM_000109.4(DMD):c.9658T>C (p.Phe3220Leu) rs141392048
NM_000110.3(DPYD):c.557A>G (p.Tyr186Cys) rs115232898
NM_000110.3(DPYD):c.775A>G (p.Lys259Glu) rs45589337
NM_000111.2(SLC26A3):c.2024_2026dup (p.Ile675dup) rs121913031
NM_000112.3(SLC26A2):c.229A>C (p.Asn77His) rs76784312
NM_000116.5(TAZ):c.383T>C (p.Phe128Ser) rs146934311
NM_000118.3(ENG):c.1844C>T (p.Ser615Leu) rs148002300
NM_000118.3(ENG):c.640G>A (p.Gly214Ser) rs150932144
NM_000122.1(ERCC3):c.2111C>T (p.Ser704Leu) rs4150521
NM_000122.1(ERCC3):c.325C>T (p.Arg109Ter) rs34295337
NM_000123.3(ERCC5):c.3428C>T (p.Ala1143Val) rs376411022
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro) rs139007661
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg) rs4253208
NM_000124.4(ERCC6):c.4223A>C (p.Glu1408Ala) rs61760167
NM_000130.4(F5):c.3980A>G (p.His1327Arg) rs1800595
NM_000130.5(F5):c.3845A>G (p.His1282Arg)
NM_000132.3(F8):c.1508G>A (p.Arg503His) rs35383156
NM_000132.3(F8):c.2994T>G (p.His998Gln) rs149853218
NM_000132.3(F8):c.6623A>G (p.Gln2208Arg) rs782198570
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751
NM_000135.4(FANCA):c.3348+7G>T rs185527578
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro) rs41281202
NM_000136.3(FANCC):c.1275C>G (p.Leu425=) rs767126985
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg) rs1800368
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter) rs370974124
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441
NM_000136.3(FANCC):c.345+4AG[2] rs755657969
NM_000136.3(FANCC):c.395C>G (p.Ala132Gly) rs587779905
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu) rs1800362
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg) rs140781259
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361
NM_000136.3(FANCC):c.817G>A (p.Glu273Lys) rs143181565
NM_000136.3(FANCC):c.844-10_844-8del rs758617953
NM_000136.3(FANCC):c.934A>G (p.Ile312Val) rs1800366
NM_000137.3(FAH):c.1021C>T (p.Arg341Trp) rs11555096
NM_000138.4(FBN1):c.2956G>A (p.Ala986Thr) rs112287730
NM_000138.4(FBN1):c.3058A>G (p.Thr1020Ala) rs111801777
NM_000138.4(FBN1):c.3184G>A (p.Asp1062Asn) rs758366498
NM_000138.4(FBN1):c.3294C>T (p.Asp1098=) rs140587
NM_000138.4(FBN1):c.3509G>A (p.Arg1170His) rs137854475
NM_000138.4(FBN1):c.3571G>A (p.Asp1191Asn) rs370121450
NM_000138.4(FBN1):c.4022A>G (p.Asn1341Ser) rs140638
NM_000138.4(FBN1):c.5343G>A (p.Val1781=) rs140649
NM_000138.4(FBN1):c.5345G>A (p.Cys1782Tyr) rs1555396429
NM_000138.4(FBN1):c.6610T>C (p.Cys2204Arg) rs1555395001
NM_000138.4(FBN1):c.6700G>A (p.Val2234Met) rs112084407
NM_000138.4(FBN1):c.7072G>A (p.Val2358Ile) rs140537304
NM_000138.4(FBN1):c.7499G>A (p.Cys2500Tyr) rs794728160
NM_000138.4(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008
NM_000138.4(FBN1):c.986T>C (p.Ile329Thr) rs12324002
NM_000140.4(FECH):c.163G>T (p.Gly55Cys) rs3848519
NM_000140.4(FECH):c.315-48T>C rs2272783
NM_000142.4(FGFR3):c.1150T>C (p.Phe384Leu) rs17881656
NM_000142.4(FGFR3):c.1345C>T (p.Pro449Ser) rs61735104
NM_000142.4(FGFR3):c.1948A>C (p.Lys650Gln) rs78311289
NM_000143.3(FH):c.1237-50TC[20] rs144131869
NM_000143.3(FH):c.1237-50TC[21] rs144131869
NM_000146.4(FTL):c.163T>C (p.Leu55=) rs2230267
NM_000152.5(GAA):c.-32-13T>G rs386834236
NM_000152.5(GAA):c.1327-18A>G rs2278619
NM_000152.5(GAA):c.2395C>T (p.His799Tyr) rs143347747
NM_000153.4(GALC):c.1403C>G (p.Thr468Ser) rs34134328
NM_000153.4(GALC):c.1685T>C (p.Ile562Thr) rs398607
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855
NM_000154.2(GALK1):c.593C>T (p.Ala198Val) rs80084721
NM_000154.2(GALK1):c.863C>T (p.Thr288Met) rs759284637
NM_000155.2(GALT):c.-119_-116delGTCA rs111033640
NM_000155.4(GALT):c.100T>A (p.Tyr34Asn) rs111033836
NM_000155.4(GALT):c.820+13A>G rs111033768
NM_000155.4(GALT):c.864C>T (p.Asn288=) rs372134800
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000156.6(GAMT):c.59G>C (p.Trp20Ser) rs80338734
NM_000159.4(GCDH):c.*165A>G rs8012
NM_000159.4(GCDH):c.*288G>T rs9384
NM_000159.4(GCDH):c.1144G>A (p.Ala382Thr) rs567564095
NM_000159.4(GCDH):c.1198G>A (p.Val400Met) rs121434372
NM_000159.4(GCDH):c.852+223C>T rs11085825
NM_000159.4(GCDH):c.91+5G>A
NM_000161.3(GCH1):c.206C>T (p.Pro69Leu) rs56127440
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg) rs41298442
NM_000161.3(GCH1):c.68C>T (p.Pro23Leu) rs41298432
NM_000163.5(GHR):c.484G>A (p.Val162Ile) rs6413484
NM_000166.6(GJB1):c.281A>G (p.His94Arg)
NM_000166.6(GJB1):c.392_393TG[1] (p.Trp132fs) rs1555937168
NM_000166.6(GJB1):c.538T>C (p.Phe180Leu)
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys) rs104894825
NM_000168.6(GLI3):c.1393G>C (p.Gly465Arg) rs35488756
NM_000168.6(GLI3):c.2424A>G (p.Ile808Met) rs62622373
NM_000168.6(GLI3):c.341G>A (p.Arg114Lys) rs146458902
NM_000169.2(GLA):c.1117G>A (p.Gly373Ser) rs727504348
NM_000169.2(GLA):c.1153A>G (p.Thr385Ala) rs397515869
NM_000169.2(GLA):c.196G>C (p.Glu66Gln) rs104894833
NM_000169.2(GLA):c.352C>T (p.Arg118Cys) rs148158093
NM_000169.2(GLA):c.376A>G (p.Ser126Gly) rs149391489
NM_000169.2(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000169.2(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000170.2(GLDC):c.1117C>T (p.Arg373Trp) rs150171524
NM_000170.2(GLDC):c.1229G>A (p.Arg410Lys) rs144090917
NM_000170.2(GLDC):c.2316-13dup rs3215923
NM_000173.7(GP1BA):c.1282_1359del (p.415_427SEPAPSPTTPEPT[1]) rs869060239
NM_000176.3(NR3C1):c.66G>A (p.Glu22=) rs6189
NM_000179.2(MSH6):c.1019T>C (p.Phe340Ser) rs61753793
NM_000179.2(MSH6):c.1050C>T (p.Ala350=) rs730881802
NM_000179.2(MSH6):c.1054G>A (p.Val352Ile) rs730881787
NM_000179.2(MSH6):c.107C>T (p.Ala36Val) rs61756469
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.124C>T (p.Pro42Ser) rs34014629
NM_000179.2(MSH6):c.1403G>A (p.Arg468His) rs41295268
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.161G>C (p.Gly54Ala) rs63751098
NM_000179.2(MSH6):c.1696G>A (p.Gly566Arg) rs63749973
NM_000179.2(MSH6):c.1844G>C (p.Cys615Ser) rs730881793
NM_000179.2(MSH6):c.1875C>T (p.Ser625=) rs63749886
NM_000179.2(MSH6):c.1932G>C (p.Arg644Ser) rs34938432
NM_000179.2(MSH6):c.2173A>G (p.Ile725Val) rs148898662
NM_000179.2(MSH6):c.2398G>C (p.Val800Leu) rs61748083
NM_000179.2(MSH6):c.2479A>G (p.Asn827Asp) rs878853716
NM_000179.2(MSH6):c.2561A>T (p.Lys854Met) rs34374438
NM_000179.2(MSH6):c.2633T>C (p.Val878Ala) rs2020912
NM_000179.2(MSH6):c.2667G>T (p.Gln889His) rs149945495
NM_000179.2(MSH6):c.3018C>A (p.Tyr1006Ter) rs1553414395
NM_000179.2(MSH6):c.3151G>A (p.Val1051Ile) rs576269342
NM_000179.2(MSH6):c.3160A>T (p.Ile1054Phe) rs267608075
NM_000179.2(MSH6):c.3217C>T (p.Pro1073Ser) rs142254875
NM_000179.2(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617
NM_000179.2(MSH6):c.3245C>T (p.Pro1082Leu) rs191109849
NM_000179.2(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000179.2(MSH6):c.3260C>G (p.Pro1087Arg) rs63750753
NM_000179.2(MSH6):c.3300G>A (p.Thr1100=) rs540252208
NM_000179.2(MSH6):c.3478G>A (p.Val1160Ile) rs376799914
NM_000179.2(MSH6):c.3513T>C (p.Asp1171=) rs63749834
NM_000179.2(MSH6):c.3557-2del rs587779271
NM_000179.2(MSH6):c.3557-40T>A rs189436849
NM_000179.2(MSH6):c.3557-4del rs267608102
NM_000179.2(MSH6):c.359T>C (p.Ile120Thr) rs775971872
NM_000179.2(MSH6):c.3636G>T (p.Val1212=) rs1363247790
NM_000179.2(MSH6):c.3727A>T (p.Thr1243Ser) rs147453999
NM_000179.2(MSH6):c.3753_3756dup (p.Val1253fs) rs876661222
NM_000179.2(MSH6):c.3801+17T>C rs3136365
NM_000179.2(MSH6):c.3851C>T (p.Thr1284Met) rs63750836
NM_000179.2(MSH6):c.3911G>A (p.Arg1304Lys) rs34625968
NM_000179.2(MSH6):c.3936T>C (p.Val1312=) rs61753796
NM_000179.2(MSH6):c.3961A>G (p.Arg1321Gly) rs41295278
NM_000179.2(MSH6):c.3986C>T (p.Ser1329Leu) rs199594809
NM_000179.2(MSH6):c.4001+11_4001+15dup rs587779302
NM_000179.2(MSH6):c.4001+27TAAC[3] rs267608136
NM_000179.2(MSH6):c.4001+2TAAC[2] rs267608132
NM_000179.2(MSH6):c.4001+2TAAC[4] rs267608132
NM_000179.2(MSH6):c.4002-10T>A rs545466048
NM_000179.2(MSH6):c.4002-11_4002-10del rs59056100
NM_000179.2(MSH6):c.4002-12_4002-10dup rs59056100
NM_000179.2(MSH6):c.4002-4T>C rs370428032
NM_000179.2(MSH6):c.431G>T (p.Ser144Ile) rs3211299
NM_000179.2(MSH6):c.457+13A>G rs1800933
NM_000179.2(MSH6):c.457+32TG[12] rs397839804
NM_000179.2(MSH6):c.532C>T (p.Arg178Cys) rs730881813
NM_000179.2(MSH6):c.628-7C>A rs373129248
NM_000179.2(MSH6):c.660A>C (p.Glu220Asp) rs1800938
NM_000179.2(MSH6):c.663A>C (p.Glu221Asp) rs41557217
NM_000179.2(MSH6):c.884A>G (p.Lys295Arg) rs267608051
NM_000179.2(MSH6):c.998C>T (p.Thr333Ile) rs587781983
NM_000180.3(GUCY2D):c.1093C>T (p.Arg365Trp) rs138836357
NM_000180.3(GUCY2D):c.129_134delTCTGCT (p.Leu44_Leu45del) rs552184470
NM_000180.3(GUCY2D):c.164C>T (p.Thr55Met) rs201414567
NM_000180.3(GUCY2D):c.2598G>C (p.Lys866Asn) rs201587670
NM_000180.4(GUCY2D):c.1672G>A (p.Asp558Asn)
NM_000181.4(GUSB):c.454G>A (p.Asp152Asn) rs149606212
NM_000185.4(SERPIND1):c.623G>A (p.Arg208His) rs5907
NM_000186.3(CFH):c.184G>A (p.Val62Ile) rs800292
NM_000186.3(CFH):c.3176T>C (p.Ile1059Thr) rs35343172
NM_000190.4(HMBS):c.-28A>C rs201349602
NM_000192.3(TBX5):c.316A>G (p.Ile106Val) rs147710408
NM_000192.3(TBX5):c.331G>T (p.Asp111Tyr) rs77357563
NM_000192.3(TBX5):c.787G>A (p.Val263Met) rs147405081
NM_000194.3(HPRT1):c.134+6_134+9del rs794727238
NM_000202.8(IDS):c.925A>G (p.Thr309Ala) rs145807417
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) rs11934801
NM_000203.5(IDUA):c.245A>C (p.His82Pro) rs794727239
NM_000203.5(IDUA):c.246C>G (p.His82Gln) rs148775298
NM_000203.5(IDUA):c.299+6C>T rs147498923
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro) rs794726878
NM_000204.4(CFI):c.1534+5G>T rs114013791
NM_000208.4(INSR):c.151G>A (p.Glu51Lys) rs140852238
NM_000208.4(INSR):c.2243C>T (p.Ser748Leu) rs143523271
NM_000208.4(INSR):c.2971C>A (p.Leu991Ile) rs150114699
NM_000208.4(INSR):c.3034G>A (p.Val1012Met) rs1799816
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys) rs137852787
NM_000209.4(PDX1):c.714_716GCC[6] (p.Pro244dup) rs193922357
NM_000209.4(PDX1):c.97C>A (p.Pro33Thr) rs192902098
NM_000211.5(ITGB2):c.1756C>T (p.Arg586Trp) rs5030672
NM_000211.5(ITGB2):c.329-6C>T rs9983887
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln) rs145895196
NM_000215.3(JAK3):c.2773C>A (p.Arg925Ser) rs149452625
NM_000216.4(ANOS1):c.1678G>A (p.Val560Ile) rs2229013
NM_000232.4(SGCB):c.299T>A (p.Met100Lys) rs104893871
NM_000237.3(LPL):c.106G>A (p.Asp36Asn) rs1801177
NM_000237.3(LPL):c.953A>G (p.Asn318Ser) rs268
NM_000243.2(MEFV):c.124C>T (p.Arg42Trp) rs61754767
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.1432C>T (p.His478Tyr) rs104895105
NM_000243.2(MEFV):c.1437C>G (p.Phe479Leu) rs104895083
NM_000243.2(MEFV):c.1730C>A (p.Thr577Asn) rs1057516210
NM_000243.2(MEFV):c.1894G>A (p.Gly632Ser) rs104895128
NM_000243.2(MEFV):c.1958G>A (p.Arg653His) rs104895085
NM_000243.2(MEFV):c.2040G>A (p.Met680Ile) rs28940580
NM_000243.2(MEFV):c.2060G>A (p.Gly687Asp) rs387907570
NM_000243.2(MEFV):c.2064C>G (p.Tyr688Ter) rs104895098
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.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.442G>C (p.Glu148Gln) rs3743930
NM_000243.2(MEFV):c.501G>C (p.Glu167Asp) rs104895079
NM_000243.2(MEFV):c.586G>T (p.Gly196Trp) rs104895179
NM_000243.2(MEFV):c.688G>A (p.Glu230Lys) rs104895080
NM_000243.2(MEFV):c.800C>T (p.Thr267Ile) rs104895081
NM_000243.2(MEFV):c.926C>T (p.Thr309Met) rs104895155
NM_000244.3(MEN1):c.-22C>A rs374749001
NM_000244.3(MEN1):c.1679G>A (p.Ser560Asn) rs863224527
NM_000244.3(MEN1):c.526C>T (p.Arg176Trp) rs143329068
NM_000244.3(MEN1):c.670-6C>A rs77461664
NM_000244.3(MEN1):c.670-6C>G rs77461664
NM_000249.3(MLH1):c.-107C>G rs587778886
NM_000249.3(MLH1):c.-269C>G rs35032294
NM_000249.3(MLH1):c.-28A>G rs56198082
NM_000249.3(MLH1):c.1013A>G (p.Asn338Ser) rs63751467
NM_000249.3(MLH1):c.1038+8C>T rs751872237
NM_000249.3(MLH1):c.1039-8T>A rs193922367
NM_000249.3(MLH1):c.1050A>G (p.Pro350=) rs137937003
NM_000249.3(MLH1):c.1217G>A (p.Ser406Asn) rs41294980
NM_000249.3(MLH1):c.1270G>A (p.Ala424Thr) rs377433038
NM_000249.3(MLH1):c.1321G>A (p.Ala441Thr) rs63750365
NM_000249.3(MLH1):c.1392T>C (p.Pro464=) rs63750201
NM_000249.3(MLH1):c.1420C>G (p.Arg474Gly) rs147939838
NM_000249.3(MLH1):c.1565G>A (p.Arg522Gln) rs63751630
NM_000249.3(MLH1):c.1667+2T>C rs878853780
NM_000249.3(MLH1):c.1732-19T>A rs77120160
NM_000249.3(MLH1):c.1742C>T (p.Pro581Leu) rs63751684
NM_000249.3(MLH1):c.1808C>G (p.Pro603Arg) rs63750876
NM_000249.3(MLH1):c.1820T>A (p.Leu607His) rs41295284
NM_000249.3(MLH1):c.1852A>G (p.Lys618Glu) rs35001569
NM_000249.3(MLH1):c.1853A>C (p.Lys618Thr) rs63750449
NM_000249.3(MLH1):c.186A>G (p.Gln62=) rs1559506261
NM_000249.3(MLH1):c.1897-17C>G rs2308316
NM_000249.3(MLH1):c.191A>G (p.Asn64Ser) rs63750952
NM_000249.3(MLH1):c.1963A>G (p.Ile655Val) rs55907433
NM_000249.3(MLH1):c.198C>T (p.Thr66=) rs61751642
NM_000249.3(MLH1):c.1990-6G>A rs117221851
NM_000249.3(MLH1):c.2066A>G (p.Gln689Arg) rs63750702
NM_000249.3(MLH1):c.2101C>A (p.Gln701Lys) rs63750114
NM_000249.3(MLH1):c.2104-11G>A rs147984696
NM_000249.3(MLH1):c.2107G>A (p.Glu703Lys) rs747727493
NM_000249.3(MLH1):c.2146G>A (p.Val716Met) rs35831931
NM_000249.3(MLH1):c.2252A>G (p.Lys751Arg) rs140195825
NM_000249.3(MLH1):c.2262del (p.Arg755fs) rs267607904
NM_000249.3(MLH1):c.307-19A>G rs121909451
NM_000249.3(MLH1):c.375A>G (p.Ala125=) rs1800144
NM_000249.3(MLH1):c.438A>G (p.Gln146=) rs377279035
NM_000249.3(MLH1):c.453G>A (p.Thr151=) rs369521379
NM_000249.3(MLH1):c.626A>G (p.Asn209Ser) rs150478207
NM_000249.3(MLH1):c.649C>T (p.Arg217Cys) rs4986984
NM_000249.3(MLH1):c.65G>C (p.Gly22Ala) rs41295280
NM_000249.3(MLH1):c.702G>A (p.Glu234=) rs35908749
NM_000249.3(MLH1):c.790+10A>G rs182733777
NM_000249.3(MLH1):c.791-5T>G rs267607788
NM_000249.3(MLH1):c.803A>G (p.Glu268Gly) rs63750650
NM_000249.3(MLH1):c.845C>G (p.Ala282Gly) rs63750360
NM_000249.3(MLH1):c.885-21TC[2] rs267607804
NM_000249.3(MLH1):c.885-5G>T rs267607802
NM_000249.3(MLH1):c.94A>G (p.Ile32Val) rs2020872
NM_000249.3(MLH1):c.977T>C (p.Val326Ala) rs63751049
NM_000250.2(MPO):c.752T>C (p.Met251Thr) rs56378716
NM_000250.2(MPO):c.995C>T (p.Ala332Val) rs28730837
NM_000251.2(MSH2):c.-118T>C rs2303425
NM_000251.2(MSH2):c.1045C>G (p.Pro349Ala) rs267607939
NM_000251.2(MSH2):c.1255C>A (p.Gln419Lys) rs63750006
NM_000251.2(MSH2):c.128A>G (p.Tyr43Cys) rs17217723
NM_000251.2(MSH2):c.1387-8G>T rs187525243
NM_000251.2(MSH2):c.138C>G (p.His46Gln) rs33946261
NM_000251.2(MSH2):c.1462T>G (p.Leu488Val) rs587781314
NM_000251.2(MSH2):c.1489A>G (p.Ile497Val) rs755501968
NM_000251.2(MSH2):c.1511-41G>C rs202215396
NM_000251.2(MSH2):c.1511-9A>T rs12998837
NM_000251.2(MSH2):c.1563T>C (p.Tyr521=) rs63750330
NM_000251.2(MSH2):c.1661+1G>A rs267607969
NM_000251.2(MSH2):c.1661+1G>T rs267607969
NM_000251.2(MSH2):c.1666T>C (p.Leu556=) rs61756466
NM_000251.2(MSH2):c.1680T>C (p.Asn560=) rs200056411
NM_000251.2(MSH2):c.1690A>G (p.Thr564Ala) rs55778204
NM_000251.2(MSH2):c.1730T>C (p.Ile577Thr) rs63749910
NM_000251.2(MSH2):c.1737A>G (p.Lys579=) rs61756467
NM_000251.2(MSH2):c.1787A>G (p.Asn596Ser) rs41295288
NM_000251.2(MSH2):c.2005+8dup rs267607992
NM_000251.2(MSH2):c.2154A>G (p.Gln718=) rs63750810
NM_000251.2(MSH2):c.2276G>A (p.Gly759Glu) rs386833406
NM_000251.2(MSH2):c.23C>T (p.Thr8Met) rs17217716
NM_000251.2(MSH2):c.2437A>G (p.Met813Val) rs63749841
NM_000251.2(MSH2):c.2459-12A>G rs267608012
NM_000251.2(MSH2):c.2516A>G (p.His839Arg) rs63750027
NM_000251.2(MSH2):c.2714C>G (p.Thr905Arg) rs267608022
NM_000251.2(MSH2):c.274C>G (p.Leu92Val) rs587779154
NM_000251.2(MSH2):c.2785C>T (p.Arg929Ter) rs551060742
NM_000251.2(MSH2):c.279_281delTCT rs267607919
NM_000251.2(MSH2):c.2801C>T (p.Thr934Met) rs587779969
NM_000251.2(MSH2):c.2802G>A (p.Thr934=) rs150259097
NM_000251.2(MSH2):c.339G>A (p.Lys113=) rs35898375
NM_000251.2(MSH2):c.382C>G (p.Leu128Val) rs145649774
NM_000251.2(MSH2):c.435T>G (p.Ile145Met) rs63750124
NM_000251.2(MSH2):c.499G>C (p.Asp167His) rs63750255
NM_000251.2(MSH2):c.55T>C (p.Phe19Leu) rs141711342
NM_000251.2(MSH2):c.593A>G (p.Glu198Gly) rs63750327
NM_000251.2(MSH2):c.67T>C (p.Phe23Leu) rs372619120
NM_000251.2(MSH2):c.815C>T (p.Ala272Val) rs34136999
NM_000251.2(MSH2):c.913G>A (p.Ala305Thr) rs63751454
NM_000251.2(MSH2):c.942+28_942+29del rs11309117
NM_000251.3(MSH2):c.942+24_942+29del
NM_000252.2(MTM1):c.1260+3G>A rs222410
NM_000254.2(MTR):c.*16del rs67705775
NM_000254.2(MTR):c.155G>A (p.Arg52Gln) rs12749581
NM_000255.4(MMUT):c.1495G>A (p.Ala499Thr) rs2229385
NM_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys) rs573916965
NM_000256.3(MYBPC3):c.1084A>G (p.Ser362Gly) rs730880633
NM_000256.3(MYBPC3):c.1147C>G (p.Leu383Val) rs11570077
NM_000256.3(MYBPC3):c.1246G>A (p.Gly416Ser) rs371513491
NM_000256.3(MYBPC3):c.1286C>T (p.Ala429Val) rs370412052
NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys) rs193922377
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg) rs201278114
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg) rs35736435
NM_000256.3(MYBPC3):c.1564G>A (p.Ala522Thr) rs11570082
NM_000256.3(MYBPC3):c.1855G>A (p.Glu619Lys) rs200352299
NM_000256.3(MYBPC3):c.2003G>A (p.Arg668His) rs727503191
NM_000256.3(MYBPC3):c.223G>A (p.Asp75Asn) rs375471260
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met) rs371488302
NM_000256.3(MYBPC3):c.2618C>T (p.Pro873Leu) rs371401403
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) rs11570112
NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro) rs397516000
NM_000256.3(MYBPC3):c.3106C>T (p.Arg1036Cys) rs61729664
NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His) rs187705120
NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys) rs199669878
NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys) rs201312636
NM_000256.3(MYBPC3):c.3763G>A (p.Ala1255Thr) rs727503167
NM_000256.3(MYBPC3):c.461T>C (p.Ile154Thr) rs373946195
NM_000256.3(MYBPC3):c.530G>A (p.Arg177His) rs201012766
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His) rs202139499
NM_000256.3(MYBPC3):c.643C>T (p.Arg215Cys) rs397516063
NM_000256.3(MYBPC3):c.82G>A (p.Val28Met) rs776834755
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met) rs200119454
NM_000257.4(MYH7):c.1322C>T (p.Thr441Met) rs121913653
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) rs376754645
NM_000257.4(MYH7):c.323G>A (p.Arg108His) rs730880832
NM_000257.4(MYH7):c.3337-4dup rs45504498
NM_000257.4(MYH7):c.3621C>G (p.Ile1207Met) rs529700838
NM_000257.4(MYH7):c.4399C>G (p.Leu1467Val) rs397516214
NM_000257.4(MYH7):c.4909G>A (p.Ala1637Thr) rs141122361
NM_000257.4(MYH7):c.4992C>A (p.Asn1664Lys) rs763538103
NM_000257.4(MYH7):c.632C>T (p.Pro211Leu) rs727503277
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn) rs397516264
NM_000257.4(MYH7):c.976G>C (p.Ala326Pro) rs372731424
NM_000260.4(MYO7A):c.1997G>A (p.Arg666Gln) rs782396605
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp) rs200454015
NM_000260.4(MYO7A):c.285+2T>C rs782292032
NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys) rs111033214
NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn) rs373147966
NM_000260.4(MYO7A):c.4360G>A (p.Val1454Ile) rs397516309
NM_000260.4(MYO7A):c.5227C>T (p.Arg1743Trp) rs111033287
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn) rs1052471595
NM_000267.3(NF1):c.1185+7G>C rs1322791959
NM_000267.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557
NM_000267.3(NF1):c.1528-1G>T rs876660595
NM_000267.3(NF1):c.1933A>G (p.Met645Val) rs146051850
NM_000267.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889
NM_000267.3(NF1):c.2033C>T (p.Pro678Leu) rs17881753
NM_000267.3(NF1):c.3436G>A (p.Val1146Ile) rs201047812
NM_000267.3(NF1):c.3468C>T (p.Asn1156=) rs147955381
NM_000267.3(NF1):c.4111-8_4111-6del rs751729752
NM_000267.3(NF1):c.4171A>G (p.Arg1391Gly) rs1555618515
NM_000267.3(NF1):c.4265C>T (p.Ser1422Leu) rs1555618566
NM_000267.3(NF1):c.4771A>C (p.Arg1591=) rs755137259
NM_000267.3(NF1):c.5097G>T (p.Glu1699Asp) rs773378630
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.5843A>T (p.Gln1948Leu) rs143502927
NM_000267.3(NF1):c.61-2A>T rs1131691100
NM_000267.3(NF1):c.6109A>G (p.Ile2037Val) rs201712827
NM_000267.3(NF1):c.7126G>A (p.Gly2376Arg) rs1135402900
NM_000267.3(NF1):c.7521A>G (p.Gln2507=) rs55865524
NM_000267.3(NF1):c.7532C>T (p.Ala2511Val) rs148154172
NM_000267.3(NF1):c.8332G>A (p.Val2778Ile) rs377393842
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile) rs1788799
NM_000271.5(NPC1):c.2292G>A (p.Ala764=) rs772565983
NM_000271.5(NPC1):c.2842G>A (p.Asp948Asn) rs1261939149
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257
NM_000271.5(NPC1):c.449_450AG[1] (p.Ser151fs) rs749012588
NM_000271.5(NPC1):c.57+4A>G rs1057519229
NM_000272.4(NPHP1):c.14G>T (p.Arg5Leu) rs190983114
NM_000273.3(GPR143):c.371A>G (p.Gln124Arg) rs62635032
NM_000275.3(OCA2):c.1113C>T (p.Gly371=) rs1800405
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr) rs74653330
NM_000276.4(OCRL):c.439+3A>G rs61752971
NM_000277.3(PAH):c.158G>A (p.Arg53His) rs118092776
NM_000277.3(PAH):c.168+5G>A rs62507288
NM_000277.3(PAH):c.500A>G (p.Asn167Ser) rs77554925
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849
NM_000277.3(PAH):c.820A>G (p.Lys274Glu) rs142934616
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) rs118169528
NM_000282.4(PCCA):c.843del (p.Asn281fs) rs1555400381
NM_000283.3(PDE6B):c.655T>C (p.Tyr219His) rs62295357
NM_000285.4(PEPD):c.692_694del (p.Tyr231del) rs745834191
NM_000285.4(PEPD):c.977G>A (p.Trp326Ter) rs529315200
NM_000286.3(PEX12):c.102A>T (p.Arg34Ser) rs147530802
NM_000286.3(PEX12):c.362_364TTC[2] (p.Leu123del) rs751058068
NM_000287.4(PEX6):c.1646C>T (p.Ala549Val) rs115960224
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val) rs35830695
NM_000292.3(PHKA2):c.133C>T (p.Arg45Trp)
NM_000292.3(PHKA2):c.3383T>C (p.Leu1128Pro) rs797044921
NM_000292.3(PHKA2):c.883C>T (p.Arg295Cys) rs797045008
NM_000295.4(SERPINA1):c.1093G>A (p.Asp365Asn) rs143370956
NM_000295.5(SERPINA1):c.514G>A (p.Gly172Arg) rs112030253
NM_000297.4(PKD2):c.290_292AGG[7] (p.Glu102dup) rs750077647
NM_000301.3(PLG):c.1858G>A (p.Ala620Thr) rs121918027
NM_000303.3(PMM2):c.640G>A (p.Gly214Ser) rs1555453238
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000311.5(PRNP):c.246_269del (p.60_67PHGGGWGQ[3]) rs138688873
NM_000311.5(PRNP):c.385A>G (p.Met129Val) rs1799990
NM_000311.5(PRNP):c.424G>A (p.Gly142Ser) rs150351644
NM_000311.5(PRNP):c.695T>G (p.Met232Arg) rs74315409
NM_000312.3(PROC):c.399C>T (p.Arg133=) rs200045749
NM_000312.3(PROC):c.565C>T (p.Arg189Trp) rs146922325
NM_000314.7(PTEN):c.-798G>C rs587779992
NM_000314.7(PTEN):c.-801G>A rs876661166
NM_000314.7(PTEN):c.210-7_210-3del rs587780544
NM_000314.7(PTEN):c.235G>A (p.Ala79Thr) rs202004587
NM_000314.7(PTEN):c.385G>A (p.Gly129Arg) rs786204929
NM_000314.7(PTEN):c.577C>T (p.Leu193=) rs772631069
NM_000314.7(PTEN):c.599T>C (p.Phe200Ser) rs786204867
NM_000314.7(PTEN):c.71A>G (p.Asp24Gly) rs797044910
NM_000314.7(PTEN):c.78C>T (p.Thr26=) rs786201280
NM_000314.7(PTEN):c.882T>G (p.Ser294Arg) rs143335584
NM_000317.3(PTS):c.146A>G (p.His49Arg) rs750229518
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg) rs142645936
NM_000321.2(RB1):c.1129A>T (p.Thr377Ser) rs146897002
NM_000321.2(RB1):c.113G>A (p.Gly38Asp) rs766529534
NM_000321.2(RB1):c.1156A>G (p.Met386Val) rs564780653
NM_000321.2(RB1):c.1574C>G (p.Ala525Gly) rs4151539
NM_000321.2(RB1):c.1973C>A (p.Ala658Asp) rs587778834
NM_000321.2(RB1):c.2360G>A (p.Arg787Gln) rs748094394
NM_000321.2(RB1):c.2518G>A (p.Gly840Arg) rs374157786
NM_000321.2(RB1):c.2521-11G>A rs4151624
NM_000321.2(RB1):c.2566G>A (p.Asp856Asn) rs149359120
NM_000321.2(RB1):c.380+10C>G rs187110786
NM_000321.2(RB1):c.411A>T (p.Glu137Asp) rs3092902
NM_000321.2(RB1):c.59C>T (p.Pro20Leu) rs587778637
NM_000321.2(RB1):c.784C>T (p.Arg262Trp) rs556201144
NM_000321.2(RB1):c.920C>T (p.Thr307Ile) rs183898408
NM_000321.2(RB1):c.929G>A (p.Gly310Glu) rs200844292
NM_000322.5(PRPH2):c.133C>T (p.Leu45Phe) rs61755770
NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter) rs61755771
NM_000322.5(PRPH2):c.584G>A (p.Arg195Gln) rs121918567
NM_000322.5(PRPH2):c.635G>C (p.Ser212Thr) rs61755801
NM_000322.5(PRPH2):c.910C>G (p.Gln304Glu) rs390659
NM_000322.5(PRPH2):c.929G>A (p.Arg310Lys) rs425876
NM_000325.6(PITX2):c.*454C>T rs6533526
NM_000327.3(ROM1):c.686G>A (p.Arg229His) rs150168119
NM_000327.3(ROM1):c.868del (p.Gln290fs) rs548233813
NM_000328.3(RPGR):c.865A>G (p.Ile289Val) rs62640587
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr) rs61752878
NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys) rs35731153
NM_000337.5(SGCD):c.226G>T (p.Gly76Cys) rs376659221
NM_000340.2(SLC2A2):c.329C>T (p.Thr110Ile) rs5400
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031
NM_000342.4(SLC4A1):c.166A>G (p.Lys56Glu) rs5036
NM_000342.4(SLC4A1):c.2561C>T (p.Pro854Leu) rs2285644
NM_000350.2(ABCA4):c.2588G>C rs76157638
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000350.3(ABCA4):c.1025_1038del (p.Asp342fs) rs63749083
NM_000350.3(ABCA4):c.1294G>A (p.Glu432Lys) rs201117452
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392
NM_000350.3(ABCA4):c.1846G>A (p.Glu616Lys)
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met) rs61749417
NM_000350.3(ABCA4):c.2546T>C (p.Val849Ala) rs61749435
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg) rs61750126
NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu) rs61750145
NM_000350.3(ABCA4):c.4926C>G (p.Ser1642Arg) rs61753017
NM_000350.3(ABCA4):c.5056G>A (p.Val1686Met) rs61753019
NM_000350.3(ABCA4):c.5381C>A (p.Ala1794Asp) rs61751406
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466
NM_000350.3(ABCA4):c.5714+5G>A rs61751407
NM_000350.3(ABCA4):c.6119G>A (p.Arg2040Gln) rs148460146
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg) rs61748536
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564
NM_000355.4(TCN2):c.643C>T (p.Arg215Trp) rs35838082
NM_000359.3(TGM1):c.1552G>A (p.Val518Met) rs35312232
NM_000363.5(TNNI3):c.12-7del rs370714315
NM_000363.5(TNNI3):c.235C>T (p.Arg79Cys) rs3729712
NM_000364.4(TNNT2):c.766G>A (p.Asp256Asn) rs141805127
NM_000368.4(TSC1):c.1250C>T (p.Thr417Ile) rs77464996
NM_000368.4(TSC1):c.1960C>G (p.Gln654Glu) rs75820036
NM_000368.4(TSC1):c.2281T>C (p.Tyr761His) rs776386313
NM_000368.4(TSC1):c.2626-3C>T rs1060503192
NM_000368.4(TSC1):c.3184C>T (p.Arg1062Trp) rs118203745
NM_000369.3(TSHR):c.202C>T rs142063461
NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs) rs397515379
NM_000371.3(TTR):c.116C>A (p.Ala39Asp) rs11541795
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.379A>G (p.Ile127Val) rs121918089
NM_000371.3(TTR):c.416C>T (p.Thr139Met) rs28933981
NM_000372.5(TYR):c.1064C>T (p.Ala355Val) rs151206295
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602
NM_000374.5(UROD):c.758T>A (p.Leu253Gln) rs36033115
NM_000377.2(WAS):c.391G>A (p.Glu131Lys) rs146220228
NM_000379.4(XDH):c.3276+12A>G rs1366813
NM_000383.4(AIRE):c.901G>A (p.Val301Met) rs150634562
NM_000384.3(APOB):c.1853C>T (p.Ala618Val) rs679899
NM_000384.3(APOB):c.3383G>A (p.Arg1128His) rs12713843
NM_000384.3(APOB):c.8216C>T (p.Pro2739Leu) rs676210
NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly) rs12720854
NM_000388.4(CASR):c.2767C>G (p.Pro923Ala) rs201517907
NM_000388.4(CASR):c.2915C>T (p.Thr972Met) rs200620134
NM_000388.4(CASR):c.3091G>A (p.Gly1031Ser) rs142704083
NM_000388.4(CASR):c.748G>A (p.Glu250Lys) rs62269092
NM_000391.4(TPP1):c.182_183TC[1] (p.Ser62fs) rs1554902216
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746
NM_000391.4(TPP1):c.380+5G>A rs1564855725
NM_000397.3(CYBB):c.1090G>C (p.Gly364Arg) rs141756032
NM_000399.5(EGR2):c.1352G>T (p.Gly451Val) rs138967272
NM_000400.3(ERCC2):c.1381C>G (p.Leu461Val) rs121913016
NM_000400.3(ERCC2):c.1905G>A (p.Ala635=) rs145835916
NM_000400.3(ERCC2):c.2150C>G (p.Ala717Gly) rs144564120
NM_000401.3(EXT2):c.1859C>T (p.Thr620Met) rs138495222
NM_000401.3(EXT2):c.359T>G (p.Met120Arg) rs140075817
NM_000401.3(EXT2):c.809C>T (p.Ser270Leu) rs139525250
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) rs137852339
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe) rs137852342
NM_000402.4(G6PD):c.185A>G (p.His62Arg) rs137852340
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly) rs78478128
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr) rs76645461
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.482G>T (p.Gly161Val) rs137852341
NM_000402.4(G6PD):c.556G>A (p.Glu186Lys) rs137852313
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.682C>T (p.Arg228Cys) rs137852330
NM_000402.4(G6PD):c.683G>A (p.Arg228His) rs137852332
NM_000404.4(GLB1):c.175C>T (p.Arg59Cys) rs756878418
NM_000406.2(GNRHR):c.436C>T (p.Pro146Ser) rs144900788
NM_000410.3(HFE):c.175G>A (p.Val59Met) rs111033557
NM_000410.3(HFE):c.187C>G (p.His63Asp) rs1799945
NM_000410.3(HFE):c.845G>A (p.Cys282Tyr) rs1800562
NM_000424.4(KRT5):c.1429G>A (p.Glu477Lys) rs59190510
NM_000424.4(KRT5):c.1636C>A (p.Leu546Ile) rs114734812
NM_000426.3(LAMA2):c.1893_1897del (p.Asp631fs)
NM_000426.3(LAMA2):c.2049_2050delAG rs202247790
NM_000426.3(LAMA2):c.4487C>T (p.Ala1496Val) rs147077184
NM_000426.3(LAMA2):c.6551T>C (p.Phe2184Ser) rs398123381
NM_000426.3(LAMA2):c.7431A>T (p.Arg2477Ser) rs34367843
NM_000426.3(LAMA2):c.8244+1G>A rs749522728
NM_000426.3(LAMA2):c.8556_8558del (p.Ile2852del) rs398123389
NM_000428.3(LTBP2):c.1295C>T (p.Pro432Leu) rs137854861
NM_000430.4(PAFAH1B1):c.569-10T>C rs113994202
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897
NM_000431.4(MVK):c.1156G>A (p.Asp386Asn) rs104895380
NM_000435.3(NOTCH3):c.1490C>T (p.Ser497Leu) rs114207045
NM_000435.3(NOTCH3):c.164G>A (p.Cys55Tyr) rs1555730188
NM_000435.3(NOTCH3):c.2932A>C (p.Ser978Arg)
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys) rs201680145
NM_000435.3(NOTCH3):c.4348G>A (p.Ala1450Thr) rs201082692
NM_000435.3(NOTCH3):c.4552C>A (p.Leu1518Met) rs141320511
NM_000435.3(NOTCH3):c.509A>G (p.His170Arg) rs147373451
NM_000436.4(OXCT1):c.112C>T (p.Arg38Cys) rs76956231
NM_000440.3(PDE6A):c.1957C>T (p.Arg653Ter) rs753942596
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu) rs114973968
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243
NM_000441.2(SLC26A4):c.2190G>T (p.Gln730His) rs142723249
NM_000441.2(SLC26A4):c.841G>A (p.Val281Ile) rs727505080
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser) rs375315619
NM_000443.4(ABCB4):c.475C>T (p.Arg159Ter) rs377160065
NM_000444.6(PHEX):c.1406C>A (p.Ala469Glu) rs375593493
NM_000444.6(PHEX):c.1586+3_1586+6del rs886042234
NM_000444.6(PHEX):c.591A>G (p.Gln197=) rs1556020818
NM_000447.3(PSEN2):c.211C>T (p.Arg71Trp) rs140501902
NM_000454.4(SOD1):c.272A>C (p.Asp91Ala) rs80265967
NM_000455.4(STK11):c.*8C>T rs587782259
NM_000455.4(STK11):c.-107dup rs927999961
NM_000455.4(STK11):c.-461G>A rs552610464
NM_000455.4(STK11):c.1038C>T (p.Gly346=) rs767565606
NM_000455.4(STK11):c.1185A>G (p.Thr395=) rs370207155
NM_000455.4(STK11):c.1211C>T (p.Ser404Phe) rs200078204
NM_000455.4(STK11):c.1225C>T (p.Arg409Trp) rs368466538
NM_000455.4(STK11):c.375-7G>A rs587781176
NM_000455.4(STK11):c.426C>T (p.Ser142=) rs758448869
NM_000455.4(STK11):c.465-4G>A rs587780009
NM_000455.4(STK11):c.559G>A (p.Gly187Ser) rs587782032
NM_000455.4(STK11):c.795G>A (p.Glu265=) rs730881963
NM_000455.4(STK11):c.825G>A (p.Pro275=) rs202011521
NM_000455.4(STK11):c.842C>T (p.Pro281Leu) rs121913322
NM_000455.4(STK11):c.894C>A (p.Phe298Leu) rs199681533
NM_000455.4(STK11):c.920+1G>A rs1131690920
NM_000455.4(STK11):c.921-9C>T rs761688641
NM_000455.4(STK11):c.945G>A (p.Pro315=) rs376329042
NM_000455.4(STK11):c.992G>A (p.Arg331Gln) rs371264852
NM_000455.5(STK11):c.863-5C>T
NM_000465.4(BARD1):c.1028C>T (p.Thr343Ile) rs201032007
NM_000465.4(BARD1):c.1059C>G (p.Pro353=) rs368649242
NM_000465.4(BARD1):c.1075_1095del (p.Leu359_Pro365del) rs28997575
NM_000465.4(BARD1):c.1203T>C (p.Ser401=) rs370553043
NM_000465.4(BARD1):c.1347A>G (p.Gln449=) rs373257776
NM_000465.4(BARD1):c.1409A>G (p.Asn470Ser) rs587781976
NM_000465.4(BARD1):c.160A>G (p.Thr54Ala) rs200254470
NM_000465.4(BARD1):c.1694G>A (p.Arg565His) rs146946984
NM_000465.4(BARD1):c.172_173AG[2] (p.Glu59fs) rs1057517589
NM_000465.4(BARD1):c.1835A>T (p.Asp612Val) rs201140528
NM_000465.4(BARD1):c.1972C>T (p.Arg658Cys) rs3738888
NM_000465.4(BARD1):c.1973G>A (p.Arg658His) rs377227840
NM_000465.4(BARD1):c.1977A>G (p.Arg659=) rs147215925
NM_000465.4(BARD1):c.2191C>G (p.Arg731Gly) rs76744638
NM_000465.4(BARD1):c.33G>T (p.Gln11His) rs143914387
NM_000465.4(BARD1):c.346C>T (p.His116Tyr) rs144856889
NM_000465.4(BARD1):c.353A>G (p.Asn118Ser) rs142864491
NM_000465.4(BARD1):c.668A>G (p.Glu223Gly) rs145009419
NM_000465.4(BARD1):c.716T>A (p.Leu239Gln) rs200359745
NM_000465.4(BARD1):c.722C>G (p.Ser241Cys) rs3738885
NM_000475.5(NR0B1):c.376G>A (p.Val126Met) rs193205940
NM_000479.5(AMH):c.974A>G (p.Gln325Arg) rs140765565
NM_000481.3(AMT):c.631G>A (p.Glu211Lys) rs116192290
NM_000487.6(ARSA):c.*96A>G rs6151429
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421
NM_000487.6(ARSA):c.1150G>A (p.Glu384Lys) rs74315479
NM_000487.6(ARSA):c.1178C>G (p.Thr393Ser) rs743616
NM_000487.6(ARSA):c.465+1G>A rs80338815
NM_000492.3(CFTR):c.*1043A>C rs10234329
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.1052C>G (p.Thr351Ser) rs1800086
NM_000492.3(CFTR):c.1055G>A (p.Arg352Gln) rs121908753
NM_000492.3(CFTR):c.1117G>A (p.Asp373Asn) rs556880586
NM_000492.3(CFTR):c.1163C>T (p.Thr388Met) rs143860237
NM_000492.3(CFTR):c.1209+1G>T rs397508176
NM_000492.3(CFTR):c.1210-11T>G rs73715573
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.1301C>G (p.Ser434Ter) rs367934560
NM_000492.3(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190
NM_000492.3(CFTR):c.1364C>A (p.Ala455Glu) rs74551128
NM_000492.3(CFTR):c.137C>T (p.Ala46Val) rs151020603
NM_000492.3(CFTR):c.1399C>T (p.Leu467Phe) rs1800089
NM_000492.3(CFTR):c.1409_1418del (p.Val470fs) rs397508204
NM_000492.3(CFTR):c.14C>T (p.Pro5Leu) rs193922501
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.1624G>T (p.Gly542Ter) rs113993959
NM_000492.3(CFTR):c.164+2dup rs1554375870
NM_000492.3(CFTR):c.1647T>G (p.Ser549Arg) rs121909005
NM_000492.3(CFTR):c.1652G>A (p.Gly551Asp) rs75527207
NM_000492.3(CFTR):c.1682C>A (p.Ala561Glu) rs121909047
NM_000492.3(CFTR):c.1684G>A (p.Val562Ile) rs1800097
NM_000492.3(CFTR):c.1727G>C (p.Gly576Ala) rs1800098
NM_000492.3(CFTR):c.1766G>A (p.Ser589Asn) rs397508300
NM_000492.3(CFTR):c.1841A>G (p.Asp614Gly) rs201124247
NM_000492.3(CFTR):c.1853T>C (p.Ile618Thr) rs139468767
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.2079T>G (p.Phe693Leu) rs145540754
NM_000492.3(CFTR):c.220C>T (p.Arg74Trp) rs115545701
NM_000492.3(CFTR):c.2249C>T (p.Pro750Leu) rs140455771
NM_000492.3(CFTR):c.2260G>A (p.Val754Met) rs150157202
NM_000492.3(CFTR):c.2551C>T (p.Arg851Ter) rs121909012
NM_000492.3(CFTR):c.2554dup (p.Tyr852fs) rs1057517068
NM_000492.3(CFTR):c.2620-15C>G rs139379077
NM_000492.3(CFTR):c.2620-6T>C rs371315682
NM_000492.3(CFTR):c.2657+2_2657+3insA rs397508414
NM_000492.3(CFTR):c.2735C>T (p.Ser912Leu) rs121909034
NM_000492.3(CFTR):c.2739T>A (p.Tyr913Ter) rs149790377
NM_000492.3(CFTR):c.274-6T>C rs371315549
NM_000492.3(CFTR):c.2758G>A (p.Val920Met) rs373885282
NM_000492.3(CFTR):c.2834C>T (p.Ser945Leu) rs397508442
NM_000492.3(CFTR):c.2900T>C (p.Leu967Ser) rs1800110
NM_000492.3(CFTR):c.292C>T (p.Gln98Ter) rs397508461
NM_000492.3(CFTR):c.2989-1G>A rs397508470
NM_000492.3(CFTR):c.2991G>C (p.Leu997Phe) rs1800111
NM_000492.3(CFTR):c.2997_3000del (p.Leu999_Ile1000insTer) rs397508472
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.3107C>T (p.Thr1036Ile) rs397508498
NM_000492.3(CFTR):c.3154T>G (p.Phe1052Val) rs150212784
NM_000492.3(CFTR):c.3208C>T (p.Arg1070Trp) rs202179988
NM_000492.3(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542
NM_000492.3(CFTR):c.3294G>T (p.Trp1098Cys) rs397508533
NM_000492.3(CFTR):c.3299A>C (p.Gln1100Pro) rs397508535
NM_000492.3(CFTR):c.3368-2A>G rs755416052
NM_000492.3(CFTR):c.3454G>C (p.Asp1152His) rs75541969
NM_000492.3(CFTR):c.3468+2dup rs1554392800
NM_000492.3(CFTR):c.3468G>A (p.Leu1156=) rs139729994
NM_000492.3(CFTR):c.3468G>T (p.Leu1156Phe) rs139729994
NM_000492.3(CFTR):c.3469-20T>C rs373002889
NM_000492.3(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.3(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792
NM_000492.3(CFTR):c.3717+45G>A rs145743767
NM_000492.3(CFTR):c.3737C>T (p.Thr1246Ile) rs397508600
NM_000492.3(CFTR):c.3746G>A (p.Gly1249Glu) rs121909040
NM_000492.3(CFTR):c.3752G>A (p.Ser1251Asn) rs74503330
NM_000492.3(CFTR):c.3771T>G (p.Phe1257Leu) rs397508607
NM_000492.3(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167
NM_000492.3(CFTR):c.3841C>T (p.Gln1281Ter) rs397508615
NM_000492.3(CFTR):c.3846G>A (p.Trp1282Ter) rs77010898
NM_000492.3(CFTR):c.38C>T (p.Ser13Phe) rs397508635
NM_000492.3(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000492.3(CFTR):c.410T>C (p.Leu137Pro) rs397508674
NM_000492.3(CFTR):c.4242+13A>G rs76179227
NM_000492.3(CFTR):c.4242+1G>T rs372227120
NM_000492.3(CFTR):c.4300_4301dupAG rs397508709
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.443T>A (p.Ile148Asn) rs35516286
NM_000492.3(CFTR):c.443T>C (p.Ile148Thr) rs35516286
NM_000492.3(CFTR):c.488del (p.Lys163fs) rs1554379899
NM_000492.3(CFTR):c.489+3A>G rs377729736
NM_000492.3(CFTR):c.53+1G>T rs397508746
NM_000492.3(CFTR):c.571T>G (p.Phe191Val) rs141482808
NM_000492.3(CFTR):c.577G>A (p.Glu193Lys) rs397508759
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.650A>G (p.Glu217Gly) rs121909046
NM_000492.3(CFTR):c.695T>A (p.Val232Asp) rs397508783
NM_000492.3(CFTR):c.772A>G (p.Arg258Gly) rs191456345
NM_000492.3(CFTR):c.825C>G (p.Tyr275Ter) rs193922532
NM_000492.3(CFTR):c.853A>T (p.Ile285Phe) rs151073129
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.941G>A (p.Gly314Glu) rs75763344
NM_000492.3(CFTR):c.958T>G (p.Leu320Val) rs144476686
NM_000495.5(COL4A5):c.2215C>G (p.Pro739Ala) rs104886164
NM_000495.5(COL4A5):c.2722G>A (p.Gly908Arg) rs281874703
NM_000495.5(COL4A5):c.2858G>T (p.Gly953Val) rs78972735
NM_000500.9(CYP21A2):c.*13G>A rs6447
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769
NM_000500.9(CYP21A2):c.1439G>T (p.Arg480Leu) rs184649564
NM_000500.9(CYP21A2):c.188A>T (p.His63Leu) rs9378252
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000500.9(CYP21A2):c.597A>T (p.Leu199Phe)
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000501.4(ELN):c.2132G>A (p.Gly711Asp) rs41511151
NM_000503.6(EYA1):c.1460C>T (p.Ser487Leu) rs139717960
NM_000503.6(EYA1):c.865G>T (p.Asp289Tyr) rs201504674
NM_000505.3(F12):c.1027G>C (p.Ala343Pro) rs183643295
NM_000506.4(F2):c.*97G>A rs1799963
NM_000507.4(FBP1):c.611_614del (p.Lys204fs) rs761470205
NM_000512.5(GALNS):c.1462G>A (p.Val488Met) rs78127134
NM_000514.4(GDNF):c.448G>A (p.Asp150Asn) rs76466003
NM_000518.4(HBB):c.157G>A (p.Asp53Asn) rs33961886
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165
NM_000518.4(HBB):c.410G>A (p.Gly137Asp) rs33949486
NM_000518.4(HBB):c.68A>C (p.Glu23Ala) rs33936254
NM_000518.5(HBB):c.*96T>C rs34029390
NM_000518.5(HBB):c.190C>T (p.His64Tyr) rs33922873
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334
NM_000518.5(HBB):c.262A>C (p.Thr88Pro) rs35553496
NM_000518.5(HBB):c.315+16G>C rs10768683
NM_000518.5(HBB):c.93-23T>C rs111851677
NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys) rs28942071
NM_000521.4(HEXB):c.1627G>A (p.Ala543Thr) rs121907984
NM_000527.4(LDLR):c.2101G>A (p.Gly701Ser) rs368838866
NM_000527.4(LDLR):c.2282C>T (p.Thr761Met) rs138477254
NM_000527.4(LDLR):c.313+2T>C rs793888517
NM_000527.4(LDLR):c.507C>T (p.Asn169=) rs146354103
NM_000527.4(LDLR):c.828C>A (p.Cys276Ter) rs146651743
NM_000527.4(LDLR):c.970G>A (p.Gly324Ser) rs72658860
NM_000530.8(MPZ):c.301T>C (p.Trp101Arg) rs1060503423
NM_000530.8(MPZ):c.389A>G (p.Lys130Arg) rs281865127
NM_000531.6(OTC):c.298+5G>C rs72554348
NM_000531.6(OTC):c.422G>C (p.Arg141Pro) rs68026851
NM_000531.6(OTC):c.717G>C (p.Glu239Asp) rs66851495
NM_000531.6(OTC):c.809A>G (p.Gln270Arg) rs1800328
NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp) rs121964959
NM_000532.5(PCCB):c.1490C>T (p.Ala497Val) rs142403318
NM_000532.5(PCCB):c.502G>A (p.Glu168Lys) rs121964960
NM_000532.5(PCCB):c.517_518del (p.Leu173fs) rs755776820
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu) rs374722096
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser) rs200513014
NM_000535.7(PMS2):c.1243G>A (p.Val415Met) rs138387687
NM_000535.7(PMS2):c.1280G>A (p.Arg427His) rs112902065
NM_000535.7(PMS2):c.1352G>A (p.Arg451Lys) rs876660834
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000535.7(PMS2):c.1432A>G (p.Ser478Gly) rs144389038
NM_000535.7(PMS2):c.1437C>G (p.His479Gln) rs63750685
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp) rs199739859
NM_000535.7(PMS2):c.1501G>A (p.Val501Met) rs540287433
NM_000535.7(PMS2):c.1555T>C (p.Tyr519His) rs370236216
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.180C>G (p.Asp60Glu) rs200313585
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met) rs587780046
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325
NM_000535.7(PMS2):c.2184_2185TC[1] (p.Leu729fs) rs587779335
NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs) rs63750695
NM_000535.7(PMS2):c.2264T>C (p.Ile755Thr) rs386833410
NM_000535.7(PMS2):c.2347G>A (p.Val783Ile) rs553286217
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn) rs143340522
NM_000535.7(PMS2):c.2445G>A (p.Ser815=) rs753199796
NM_000535.7(PMS2):c.255G>A (p.Leu85=) rs200491279
NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala) rs1802683
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169
NM_000535.7(PMS2):c.384G>A (p.Ser128=) rs371342884
NM_000535.7(PMS2):c.497T>C (p.Leu166Pro) rs116349687
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr) rs201343342
NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys) rs375289386
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu) rs374704824
NM_000535.7(PMS2):c.706-3C>T rs1229860023
NM_000535.7(PMS2):c.706-4del rs60794673
NM_000535.7(PMS2):c.708G>T (p.Leu236Phe) rs201395630
NM_000535.7(PMS2):c.713G>A (p.Ser238Asn) rs1060503111
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala) rs146176004
NM_000535.7(PMS2):c.936G>A (p.Met312Ile) rs139194813
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys) rs139438201
NM_000536.4(RAG2):c.644C>T (p.Thr215Ile) rs35691292
NM_000539.3(RHO):c.509C>G (p.Pro170Arg) rs1553781176
NM_000540.2(RYR1):c.10097G>A (p.Arg3366His) rs137932199
NM_000540.2(RYR1):c.10616G>A (p.Arg3539His) rs143987857
NM_000540.2(RYR1):c.11518G>A (p.Val3840Ile) rs140616359
NM_000540.2(RYR1):c.11763C>A (p.Tyr3921Ter) rs377178986
NM_000540.2(RYR1):c.11798A>G (p.Tyr3933Cys) rs147136339
NM_000540.2(RYR1):c.13505A>G (p.Glu4502Gly) rs139647387
NM_000540.2(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000540.2(RYR1):c.13934G>A (p.Arg4645Gln) rs193922860
NM_000540.2(RYR1):c.1453A>G (p.Met485Val) rs147723844
NM_000540.2(RYR1):c.14545G>A (p.Val4849Ile) rs118192168
NM_000540.2(RYR1):c.14693T>C (p.Ile4898Thr) rs118192170
NM_000540.2(RYR1):c.2122G>A (p.Asp708Asn) rs138874610
NM_000540.2(RYR1):c.2677G>A (p.Gly893Ser) rs147336515
NM_000540.2(RYR1):c.2797G>A (p.Ala933Thr) rs148623597
NM_000540.2(RYR1):c.3127C>T (p.Arg1043Cys) rs111272095
NM_000540.2(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390
NM_000540.2(RYR1):c.4711A>G (p.Ile1571Val) rs146429605
NM_000540.2(RYR1):c.5036G>A (p.Arg1679His) rs146504767
NM_000540.2(RYR1):c.6671G>A (p.Arg2224His) rs537994744
NM_000540.2(RYR1):c.7025A>G (p.Asn2342Ser) rs147213895
NM_000540.2(RYR1):c.9713A>G (p.Glu3238Gly) rs200950673
NM_000540.2(RYR1):c.9758T>C (p.Ile3253Thr) rs375626634
NM_000545.6(HNF1A):c.1522G>A (p.Glu508Lys) rs483353044
NM_000545.6(HNF1A):c.79A>C (p.Ile27Leu) rs1169288
NM_000545.6(HNF1A):c.92G>A (p.Gly31Asp) rs137853247
NM_000545.6(HNF1A):c.965A>G (p.Tyr322Cys) rs140491072
NM_000547.5(TPO):c.2173A>C (p.Thr725Pro) rs732609
NM_000548.3(TSC2):c.4527_4529delCTT (p.Phe1510del) rs137854239
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr) rs137854154
NM_000548.5(TSC2):c.1443+4C>T rs45517172
NM_000548.5(TSC2):c.1656A>G (p.Ala552=) rs373515515
NM_000548.5(TSC2):c.1819G>A (p.Ala607Thr) rs45517203
NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn) rs45509392
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) rs45517238
NM_000548.5(TSC2):c.275A>T (p.Glu92Val) rs137853994
NM_000548.5(TSC2):c.292C>T (p.Arg98Trp) rs372321790
NM_000548.5(TSC2):c.3421G>A (p.Ala1141Thr) rs45505895
NM_000548.5(TSC2):c.3430G>A (p.Val1144Met) rs45517294
NM_000548.5(TSC2):c.4685T>C (p.Leu1562Pro) rs45517362
NM_000548.5(TSC2):c.5068+27_5069-47del rs137854209
NM_000548.5(TSC2):c.5378G>A (p.Arg1793Gln) rs45506695
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423
NM_000548.5(TSC2):c.538C>G (p.Leu180Val) rs45485591
NM_000551.3(VHL):c.154G>A (p.Glu52Lys) rs373068386
NM_000551.3(VHL):c.235C>T (p.Arg79Cys) rs200885420
NM_000551.3(VHL):c.241C>T (p.Pro81Ser) rs104893829
NM_000551.3(VHL):c.326T>A (p.Ile109Asn) rs398123482
NM_000551.3(VHL):c.538A>G (p.Ile180Val) rs377715747
NM_000551.3(VHL):c.556G>A (p.Glu186Lys) rs367545984
NM_000553.4(WRN):c.3785C>G (p.Thr1262Arg) rs78488552
NM_000553.4(WRN):c.4099T>C (p.Cys1367Arg) rs1346044
NM_000554.6(CRX):c.196G>A (p.Val66Ile) rs61748438
NM_000554.6(CRX):c.425A>G (p.Tyr142Cys) rs61748442
NM_000554.6(CRX):c.724G>A (p.Val242Met) rs61748459
NM_000601.6(HGF):c.1891G>A (p.Val631Met) rs145494248
NM_000642.3(AGL):c.2457_2460del (p.Gln820fs) rs1553187237
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys) rs121912698
NM_000666.3(ACY1):c.1156C>T (p.Arg386Cys)
NM_000718.4(CACNA1B):c.2093-4C>A
NM_000719.7(CACNA1C):c.109G>A (p.Gly37Arg) rs34534613
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg) rs121912775
NM_000719.7(CACNA1C):c.2542_2544GAG[2] (p.Glu850del) rs575583988
NM_000719.7(CACNA1C):c.6040G>A (p.Val2014Ile) rs199473660
NM_000726.4(CACNB4):c.311G>T (p.Cys104Phe) rs1805031
NM_000742.4(CHRNA2):c.140C>T (p.Thr47Met) rs74772771
NM_000751.3(CHRND):c.862C>G (p.Gln288Glu) rs41265127
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys) rs6161
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687
NM_000834.4(GRIN2B):c.1672G>A (p.Val558Ile) rs1057519004
NM_000834.4(GRIN2B):c.1721_1726TCTTTG[1] (p.574_575VF[1]) rs1555111511
NM_000891.2(KCNJ2):c.1229A>G (p.Asn410Ser) rs141069645
NM_000939.4(POMC):c.583G>A (p.Ala195Thr)
NM_000939.4(POMC):c.706C>G (p.Arg236Gly) rs28932472
NM_000941.3(POR):c.15A>G (p.Gly5=) rs10262966
NM_000969.5(RPL5):c.3+3G>C rs200628272
NM_000969.5(RPL5):c.629A>G (p.Tyr210Cys) rs11540832
NM_001002294.3(FMO3):c.923A>G (p.Glu308Gly) rs2266780
NM_001003800.2(BICD2):c.1079C>T (p.Ala360Val) rs587777884
NM_001003800.2(BICD2):c.1993G>T (p.Val665Leu) rs587777885
NM_001005273.2(CHD3):c.3505C>T (p.Arg1169Trp) rs1567861468
NM_001005336.3(DNM1):c.112G>A (p.Gly38Ser) rs1131692025
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln) rs75654767
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys) rs11258194
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg) rs28940884
NM_001008537.3(NEXMIF):c.1882C>T (p.Arg628Ter) rs786205208
NM_001009944.3(PKD1):c.10678G>A (p.Gly3560Arg) rs79000340
NM_001009944.3(PKD1):c.11537+3_11537+5dup rs201204878
NM_001009944.3(PKD1):c.12826C>T (p.Arg4276Trp) rs114251396
NM_001009944.3(PKD1):c.3496G>A (p.Gly1166Ser) rs573566419
NM_001009944.3(PKD1):c.6496C>T (p.Arg2166Cys) rs146096401
NM_001009944.3(PKD1):c.6545A>G (p.Gln2182Arg) rs147685291
NM_001009944.3(PKD1):c.6749C>T (p.Thr2250Met) rs139971481
NM_001009944.3(PKD1):c.7430G>A (p.Arg2477His)
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys) rs144979397
NM_001012515.3(FECH):c.68-23C>T rs2269219
NM_001017535.1(VDR):c.2T>C (p.Met1Thr) rs2228570
NM_001017989.3(OPA3):c.184G>A (p.Gly62Ser) rs140959406
NM_001018005.2(TPM1):c.453C>A (p.Ala151=) rs1071646
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser) rs142959373
NM_001024630.4(RUNX2):c.225_242GGCGGCTGCGGCGGCGGC[1] (p.Ala84_Ala89del) rs11498192
NM_001024688.2(NBN):c.-141_-140del rs767454740
NM_001024688.2(NBN):c.411_415del (p.Lys137fs) rs587776650
NM_001025295.3(IFITM5):c.-14C>T rs587776916
NM_001029883.3(PCARE):c.1844T>A (p.Val615Asp) rs140776870
NM_001029883.3(PCARE):c.3669-2AGC[4] rs139768554
NM_001031681.2(CTNS):c.124G>A (p.Val42Ile) rs35086888
NM_001031681.2(CTNS):c.198_218del (p.Ile67_Pro73del) rs113994204
NM_001031681.2(CTNS):c.382C>T (p.Gln128Ter) rs550254092
NM_001031710.3(KLHL7):c.352C>T (p.Leu118=) rs15775
NM_001032386.2(SUOX):c.1388C>T (p.Ser463Phe) rs1565799921
NM_001032386.2(SUOX):c.629C>T (p.Pro210Leu) rs141735896
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg) rs41297018
NM_001033855.3(DCLRE1C):c.512C>G (p.Pro171Arg) rs35441642
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln) rs149514924
NM_001035.3(RYR2):c.4652A>G (p.Asn1551Ser) rs185237690
NM_001035.3(RYR2):c.7493C>T (p.Ala2498Val) rs374191985
NM_001037.5(SCN1B):c.448+189C>A rs766373298
NM_001037.5(SCN1B):c.448+321G>A rs72558028
NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys) rs1131692231
NM_001039.4(SCNN1G):c.547G>A (p.Gly183Ser) rs5736
NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys) rs5738
NM_001039550.2(DNAJB2):c.352+1G>A rs756614404
NM_001040108.1(MLH3):c.2221G>T (p.Val741Phe) rs28756990
NM_001040142.2(SCN2A):c.1267G>C (p.Val423Leu) rs796053180
NM_001040142.2(SCN2A):c.2566C>T (p.Arg856Ter) rs1553579225
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg) rs2228980
NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala) rs147522594
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val) rs387906686
NM_001040142.2(SCN2A):c.982T>G (p.Phe328Val) rs781204054
NM_001040716.2(PC):c.788G>A (p.Arg263Gln) rs769177104
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616
NM_001042413.2(GLIS3):c.1270T>C (p.Ser424Pro) rs806052
NM_001042413.2(GLIS3):c.1367C>A (p.Pro456Gln) rs6415788
NM_001042517.2(DIAPH3):c.1840C>A (p.Pro614Thr) rs200018583
NM_001044385.3(TMEM237):c.1024A>G (p.Asn342Asp) rs372686071
NM_001048166.1(STIL):c.1455G>C (p.Leu485Phe) rs139912214
NM_001048166.1(STIL):c.257C>T (p.Ala86Val) rs3125630
NM_001048171.1(MUTYH):c.1076C>T (p.Ala359Val) rs35352891
NM_001048171.1(MUTYH):c.1144+9A>T rs587780742
NM_001048171.1(MUTYH):c.1268G>A (p.Arg423Gln) rs587782120
NM_001048171.1(MUTYH):c.1434+2C>T rs140288388
NM_001048171.1(MUTYH):c.209A>G (p.Tyr70Cys) rs200747973
NM_001048171.1(MUTYH):c.283C>T (p.Arg95Trp) rs765123255
NM_001048171.1(MUTYH):c.37-7G>A rs780029247
NM_001048171.1(MUTYH):c.439G>C (p.Asp147His) rs564930066
NM_001048171.1(MUTYH):c.534G>A (p.Lys178=) rs876660092
NM_001048171.1(MUTYH):c.53C>T (p.Pro18Leu) rs79777494
NM_001048171.1(MUTYH):c.672C>T (p.Asn224=) rs767327888
NM_001048171.1(MUTYH):c.679C>T (p.Arg227Trp) rs34126013
NM_001048171.1(MUTYH):c.694G>T (p.Val232Phe) rs587780749
NM_001048171.1(MUTYH):c.74G>A (p.Gly25Asp) rs75321043
NM_001048171.1(MUTYH):c.883C>T (p.Arg295Cys) rs138089183
NM_001048171.1(MUTYH):c.891+3A>C rs587780751
NM_001048171.1(MUTYH):c.892-2A>G rs77542170
NM_001048171.1(MUTYH):c.929C>T (p.Ser310Leu) rs558173961
NM_001048171.1(MUTYH):c.943G>A (p.Val315Met) rs147718169
NM_001060.5(TBXA2R):c.179G>T (p.Arg60Leu) rs34377097
NM_001065.3(TNFRSF1A):c.224C>T (p.Pro75Leu) rs4149637
NM_001065.3(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584
NM_001069.3(TUBB2A):c.1171C>T (p.Arg391Cys) rs1554122907
NM_001069.3(TUBB2A):c.743C>T (p.Ala248Val) rs2808001
NM_001072.4(UGT1A6):c.862-5912A>T rs397978903
NM_001077418.3(TMEM231):c.16C>G (p.Leu6Val) rs3743601
NM_001079668.3(NKX2-1):c.1106C>T (p.Ala369Val) rs537209983
NM_001079668.3(NKX2-1):c.464-2A>T rs587776708
NM_001079668.3(NKX2-1):c.796_804GGCGGGGGC[3] (p.Gly269_Gly271dup)
NM_001079846.1(CREBBP):c.2564C>T (p.Ser855Leu) rs142047649
NM_001079866.2(BCS1L):c.-50+405A>G rs898301590
NM_001080413.3(NOBOX):c.349C>T (p.Arg117Trp) rs7800847
NM_001080517.2(SETD5):c.922C>T (p.Arg308Ter) rs1421204500
NM_001080522.2(CC2D2A):c.2161C>T (p.Pro721Ser) rs199768782
NM_001080522.2(CC2D2A):c.676_678GAA[3] (p.Glu229del) rs386833764
NM_001082486.1(ACD):c.137delG (p.Arg46Leufs) rs753666055
NM_001082971.2(DDC):c.629C>T (p.Pro210Leu) rs6262
NM_001083116.3(PRF1):c.11G>A (p.Arg4His) rs35418374
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val) rs35947132
NM_001083116.3(PRF1):c.445G>A (p.Gly149Ser) rs147462227
NM_001083116.3(PRF1):c.632C>T (p.Ala211Val) rs368524364
NM_001083602.2(PTCH1):c.1108G>A (p.Asp370Asn) rs142274954
NM_001083602.2(PTCH1):c.3043G>A (p.Val1015Met) rs587778629
NM_001083602.2(PTCH1):c.4021G>A (p.Gly1341Ser) rs56161606
NM_001089.3(ABCA3):c.1502C>A (p.Ala501Glu) rs141621969
NM_001089.3(ABCA3):c.367G>A (p.Asp123Asn) rs145087575
NM_001098.3(ACO2):c.220C>G (p.Leu74Val) rs141772938
NM_001099274.3(TINF2):c.841G>A (p.Glu281Lys) rs199422322
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001101.5(ACTB):c.617G>A (p.Arg206Gln) rs886039472
NM_001103.3(ACTN2):c.1748A>G (p.Glu583Gly) rs200631005
NM_001106.4(ACVR2B):c.119G>A (p.Arg40His) rs121434437
NM_001109878.2(TBX22):c.176-13C>A rs55760411
NM_001110219.3(GJB6):c.607A>G (p.Met203Val) rs200674715
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439
NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr) rs61753975
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689
NM_001111283.3(IGF1):c.*297T>A rs70961704
NM_001113378.1(FANCI):c.1813C>T (p.Leu605Phe) rs117125761
NM_001114636.1(FANCL):c.1111_1114dup (p.Thr372fs) rs759217526
NM_001122659.3(EDNRB):c.-26G>A rs2070591
NM_001122764.3(PPOX):c.767C>G (p.Pro256Arg) rs12735723
NM_001122769.3(LCA5):c.1967G>A (p.Gly656Asp) rs1875845
NM_001126049.1(KLLN):c.-898G>A rs538728843
NM_001126049.1(KLLN):c.-956G>T rs34149102
NM_001126108.2(SLC12A3):c.1946C>T (p.Thr649Met) rs145337602
NM_001126108.2(SLC12A3):c.2755C>T (p.Arg919Cys) rs12708965
NM_001126108.2(SLC12A3):c.965C>T (p.Ala322Val) rs142679083
NM_001126112.2(TP53):c.1014C>T (p.Phe338=) rs150293825
NM_001126112.2(TP53):c.1096T>G (p.Ser366Ala) rs17881470
NM_001126112.2(TP53):c.245C>T (p.Pro82Leu) rs534447939
NM_001126112.2(TP53):c.285T>G (p.Ser95=) rs876658696
NM_001126112.2(TP53):c.28G>A (p.Val10Ile) rs535274413
NM_001126112.2(TP53):c.31G>C (p.Glu11Gln) rs201382018
NM_001126112.2(TP53):c.354A>T (p.Thr118=) rs751978853
NM_001126112.2(TP53):c.396G>C (p.Lys132Asn) rs866775781
NM_001126112.2(TP53):c.451C>T (p.Pro151Ser) rs28934874
NM_001126112.2(TP53):c.467G>A (p.Arg156His) rs371524413
NM_001126112.2(TP53):c.473G>C (p.Arg158Pro) rs587782144
NM_001126112.2(TP53):c.542G>A (p.Arg181His) rs397514495
NM_001126112.2(TP53):c.642T>G (p.His214Gln) rs587781386
NM_001126112.2(TP53):c.659A>G (p.Tyr220Cys) rs121912666
NM_001126112.2(TP53):c.665C>T (p.Pro222Leu) rs146340390
NM_001126112.2(TP53):c.66A>G (p.Leu22=) rs748527030
NM_001126112.2(TP53):c.704A>G (p.Asn235Ser) rs144340710
NM_001126112.2(TP53):c.733G>A (p.Gly245Ser) rs28934575
NM_001126112.2(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_001126112.2(TP53):c.743G>A (p.Arg248Gln) rs11540652
NM_001126112.2(TP53):c.797G>A (p.Gly266Glu) rs193920774
NM_001126112.2(TP53):c.818G>A (p.Arg273His) rs28934576
NM_001126112.2(TP53):c.836G>A (p.Gly279Glu) rs1064793881
NM_001126112.2(TP53):c.839G>A (p.Arg280Lys) rs121912660
NM_001126112.2(TP53):c.844C>T (p.Arg282Trp) rs28934574
NM_001126112.2(TP53):c.845G>C (p.Arg282Pro) rs730882008
NM_001126112.2(TP53):c.869G>A (p.Arg290His) rs55819519
NM_001126112.2(TP53):c.885T>C (p.Pro295=) rs200073907
NM_001126112.2(TP53):c.917G>A (p.Arg306Gln) rs1048095040
NM_001126112.2(TP53):c.91G>A (p.Val31Ile) rs201753350
NM_001126112.2(TP53):c.935C>G (p.Thr312Ser) rs145151284
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.752C>T (p.Thr251Ile) rs113994094
NM_001127221.1(CACNA1A):c.*478_*483del rs1568415991
NM_001127221.1(CACNA1A):c.1360G>A (p.Ala454Thr) rs41276886
NM_001127221.1(CACNA1A):c.2690C>G (p.Pro897Arg) rs121908242
NM_001127221.1(CACNA1A):c.4991G>A (p.Arg1664Gln) rs121908247
NM_001127221.1(CACNA1A):c.5900G>A (p.Arg1967Gln) rs199886234
NM_001127221.1(CACNA1A):c.6604C>T (p.Arg2202Trp) rs1032588483
NM_001127500.3(MET):c.1039G>A (p.Ala347Thr) rs200074800
NM_001127500.3(MET):c.103A>T (p.Met35Leu) rs375353223
NM_001127500.3(MET):c.1076G>A (p.Arg359Gln) rs201274041
NM_001127500.3(MET):c.110T>C (p.Val37Ala) rs201315884
NM_001127500.3(MET):c.1306G>A (p.Glu436Lys) rs200740468
NM_001127500.3(MET):c.1715G>A (p.Ser572Asn) rs199771406
NM_001127500.3(MET):c.1973T>C (p.Val658Ala)
NM_001127500.3(MET):c.2102+7T>C
NM_001127500.3(MET):c.2372C>T (p.Pro791Leu) rs771333219
NM_001127500.3(MET):c.2769C>T (p.Ser923=) rs45572835
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.3272C>T (p.Pro1091Leu) rs370529693
NM_001127500.3(MET):c.3328G>A (p.Val1110Ile) rs786202724
NM_001127500.3(MET):c.3410G>C (p.Gly1137Ala) rs201037977
NM_001127500.3(MET):c.4141G>A (p.Ala1381Thr) rs45578433
NM_001127500.3(MET):c.467C>T (p.Ser156Leu) rs56311081
NM_001127500.3(MET):c.504G>T (p.Glu168Asp) rs55985569
NM_001127500.3(MET):c.71G>A (p.Gly24Glu) rs180985111
NM_001127500.3(MET):c.789G>A (p.Thr263=) rs554190225
NM_001127500.3(MET):c.850A>G (p.Ile284Val) rs776014448
NM_001127500.3(MET):c.959C>T (p.Ala320Val) rs35776110
NM_001127500.3(MET):c.967A>G (p.Ser323Gly) rs201467281
NM_001127511.3(APC):c.119G>C (p.Ser40Thr) rs587778028
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474
NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro) rs28931569
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys) rs28929470
NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val) rs121912714
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580
NM_001127713.1(ATL1):c.1024C>G (p.Pro342Ala) rs1555365509
NM_001127713.1(ATL1):c.1160T>C (p.Leu387Ser)
NM_001127895.2(CHST8):c.229C>T (p.Arg77Trp) rs149660944
NM_001128209.2(SGCD):c.696+13_696+15del rs397517924
NM_001128425.1(MUTYH):c.1547C>T (p.Pro516Leu) rs587778542
NM_001128425.1(MUTYH):c.161G>A (p.Cys54Tyr) rs560905645
NM_001128425.1(MUTYH):c.389-1G>C rs372267274
NM_001128425.1(MUTYH):c.577-5A>T rs758377868
NM_001128425.1(MUTYH):c.998-9C>T rs3219488
NM_001128425.2(MUTYH):c.1187-27C>T
NM_001128844.2(SMARCA4):c.2275-3C>A rs117611401
NM_001128849.2(SMARCA4):c.1419+9C>T rs374635008
NM_001128849.2(SMARCA4):c.76G>A (p.Ala26Thr) rs145867502
NM_001128929.3(ROBO2):c.1592A>T (p.Asn531Ile) rs80051448
NM_001130089.1(KARS1):c.1577C>T (p.Ala526Val)
NM_001130089.1(KARS1):c.683C>T (p.Pro228Leu) rs201650281
NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile) rs77358650
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu) rs34997054
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val) rs121908954
NM_001130987.2(DYSF):c.4253C>G (p.Pro1418Arg) rs138268837
NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser) rs141137410
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln) rs115407852
NM_001134363.3(RBM20):c.1603G>A (p.Val535Ile) rs183007628
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621
NM_001134363.3(RBM20):c.3373G>A (p.Glu1125Lys) rs116908219
NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His) rs563762318
NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly) rs145063086
NM_001134407.3(GRIN2A):c.547T>A (p.Phe183Ile) rs587780353
NM_001134771.2(SLC12A5):c.2924G>A (p.Arg975His) rs142740233
NM_001134831.2(AHI1):c.2488C>T (p.Arg830Trp) rs13312995
NM_001134831.2(AHI1):c.3196C>T (p.Arg1066Ter) rs780163791
NM_001135599.3(TGFB2):c.272G>A (p.Arg91His) rs10482721
NM_001135599.3(TGFB2):c.703G>C (p.Val235Leu) rs10482810
NM_001142279.2(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679
NM_001142301.1(TMEM67):c.-180+30G>A rs199961375
NM_001142301.1(TMEM67):c.835A>G (p.Thr279Ala) rs140191346
NM_001142446.2(ANK1):c.127-39509T>C rs77173848
NM_001142519.3(FAM111A):c.1706G>A (p.Arg569His) rs587777011
NM_001142633.2(PIK3R5):c.1885C>T (p.Pro629Ser) rs61761068
NM_001142800.2(EYS):c.1299+5_1299+8del rs1562140604
NM_001142800.2(EYS):c.1765A>G (p.Arg589Gly) rs778030177
NM_001142800.2(EYS):c.3329C>G (p.Thr1110Ser) rs143327210
NM_001142800.2(EYS):c.8422G>A (p.Ala2808Thr) rs111991705
NM_001142800.2(EYS):c.9299_9302del (p.Thr3100fs)
NM_001142864.4(PIEZO1):c.2344G>A (p.Gly782Ser) rs200970763
NM_001145308.4(LRTOMT):c.623G>A (p.Arg208Gln) rs61741195
NM_001145661.2(GATA2):c.1084C>T (p.Arg362Ter) rs1553770510
NM_001145847.2(PROM1):c.1327dup (p.Tyr443fs) rs543698823
NM_001145847.2(PROM1):c.577C>G (p.Arg193Gly) rs140872693
NM_001146040.2(GLRA1):c.1132G>A (p.Gly378Ser) rs116474260
NM_001146261.2(SYT14):c.807_809AGA[1] (p.Glu270del) rs2307890
NM_001148.6(ANK2):c.11791G>A (p.Glu3931Lys) rs45454496
NM_001148.6(ANK2):c.4315G>T (p.Gly1439Cys) rs34591340
NM_001164277.1(SLC37A4):c.59G>A (p.Gly20Asp) rs193302881
NM_001164731.2(REEP1):c.*43G>T rs377637314
NM_001164731.2(REEP1):c.*50G>A rs189652973
NM_001165927.1(MKS1):c.827A>G (p.Asp276Gly) rs151023718
NM_001165928.3(DAG1):c.331G>A (p.Asp111Asn) rs117209107
NM_001167617.2(MLH1):c.1066G>C (p.Gly356Arg) rs63750527
NM_001167617.2(MLH1):c.1206_1208del (p.Ile403del) rs587778920
NM_001168272.1(ITPR1):c.1962G>A (p.Lys654=) rs2306875
NM_001171.5(ABCC6):c.2278C>T (p.Arg760Trp) rs72653788
NM_001171.5(ABCC6):c.3803G>A (p.Arg1268Gln) rs2238472
NM_001171.5(ABCC6):c.4069C>T (p.Arg1357Trp) rs63750428
NM_001171.5(ABCC6):c.742C>T (p.Leu248Phe) rs72653756
NM_001172309.1(NEXN):c.1754_1756GAG[1] (p.Gly586del) rs397517853
NM_001174089.2(SLC4A11):c.2496G>A (p.Met832Ile)
NM_001174150.2(ARL13B):c.1186C>G (p.Pro396Ala) rs11554412
NM_001182.4(ALDH7A1):c.-80T>G rs563928852
NM_001184832.2(SLC12A1):c.347G>A (p.Arg116His) rs34819316
NM_001184880.2(PCDH19):c.2873G>A (p.Arg958Gln) rs748581653
NM_001193376.2(TERT):c.1317_1319GGA[2] (p.Glu441del) rs377639087
NM_001193466.2(KANSL1):c.2710_2712GAG[1] (p.Glu905del) rs551968687
NM_001194998.2(CEP152):c.4378_4379del (p.Val1460fs) rs141600901
NM_001195248.2(APTX):c.484-3_484-2insTTTTTTTTTTTG rs1554664711
NM_001195248.2(APTX):c.596G>A (p.Arg199His) rs150886026
NM_001197104.1(KMT2A):c.3019G>T (p.Gly1007Cys) rs940325244
NM_001198536.1(MEFV):c.*280_*282del rs104895093
NM_001198536.1(MEFV):c.*282_*284TGA[1] rs104895091
NM_001198800.3(ASCC1):c.869A>G (p.Asn290Ser) rs146370051
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His) rs200324356
NM_001202.6(BMP4):c.455T>C (p.Val152Ala) rs17563
NM_001202.6(BMP4):c.860G>A (p.Arg287His) rs121912768
NM_001211.5(BUB1B):c.119C>T (p.Thr40Met) rs56079734
NM_001211.5(BUB1B):c.1649G>A (p.Arg550Gln) rs28989187
NM_001211.5(BUB1B):c.2763G>C (p.Gln921His) rs28989183
NM_001230.5(CASP10):c.440T>C (p.Met147Thr) rs121909776
NM_001234.5(CAV3):c.134T>A (p.Ile45Asn) rs1553614409
NM_001234.5(CAV3):c.233C>T (p.Thr78Met) rs72546668
NM_001234.5(CAV3):c.244G>A (p.Val82Ile) rs112626848
NM_001242897.2(DEPDC5):c.1870+3481C>T rs181347577
NM_001242897.2(DEPDC5):c.3383T>C (p.Ile1128Thr) rs200653339
NM_001242957.2(MAK):c.814C>T (p.Arg272Ter)
NM_001253852.3(AP4B1):c.1439T>C (p.Leu480Ser) rs1217401
NM_001254.4(CDC6):c.1321G>A (p.Val441Ile) rs13706
NM_001256047.1(C19orf12):c.391A>G (p.Lys131Glu) rs146170087
NM_001256071.3(RNF213):c.14429G>A (p.Arg4810Lys) rs112735431
NM_001256789.3(CACNA1F):c.1523G>A (p.Arg508Gln) rs34162630
NM_001256849.1(POLD1):c.1138-8A>G rs41544624
NM_001256849.1(POLD1):c.1383+8C>T rs374719944
NM_001256849.1(POLD1):c.2007-4G>A rs202035484
NM_001256849.1(POLD1):c.2007-5C>T rs199506387
NM_001256849.1(POLD1):c.2155-6C>T rs112481714
NM_001256849.1(POLD1):c.3120+6A>G rs1231856737
NM_001256849.1(POLD1):c.317-5C>T rs768082423
NM_001258281.1(MSH2):c.744+25_744+29del rs11309117
NM_001258281.1(MSH2):c.744+29del rs11309117
NM_001267550.1(TTN):c.45599C>G rs201057307
NM_001267550.2(TTN):c.106531+1G>A rs760915007
NM_001267550.2(TTN):c.107576T>C (p.Met35859Thr) rs72629793
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg) rs72648927
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr) rs72650011
NM_001267550.2(TTN):c.30683-3del rs368277751
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met) rs142951505
NM_001271.4(CHD2):c.1168A>G (p.Lys390Glu) rs1060503519
NM_001271.4(CHD2):c.4173dup (p.Gln1392fs) rs749969667
NM_001271208.2(NEB):c.10809G>C (p.Trp3603Cys) rs10172023
NM_001271208.2(NEB):c.1674+2T>C rs1553603437
NM_001276345.2(TNNT2):c.53-11_53-7del rs45533739
NM_001276345.2(TNNT2):c.692T>C (p.Ile231Thr) rs45520032
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857
NM_001278064.2(GRM1):c.2977T>C (p.Ser993Pro) rs6923492
NM_001278074.1(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045
NM_001278074.1(COL5A1):c.3752dup (p.Pro1253fs) rs786205100
NM_001278716.2(FBXL4):c.1288C>T (p.Arg430Ter) rs758395213
NM_001278716.2(FBXL4):c.419T>C (p.Val140Ala) rs1057519447
NM_001281492.1(MSH6):c.1244_1245del (p.Lys415fs) rs267608064
NM_001281492.1(MSH6):c.2871dup (p.Phe958fs) rs267608078
NM_001281492.1(MSH6):c.3611+4_3611+8dup rs587782853
NM_001281492.1(MSH6):c.3678_3681dup (p.Lys1228delinsAspTer) rs55740729
NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg) rs202134424
NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter) rs1135401808
NM_001287174.2(ABCC8):c.1858C>T (p.Arg620Cys) rs58241708
NM_001287174.2(ABCC8):c.3206C>T (p.Thr1069Met) rs139524121
NM_001287174.2(ABCC8):c.683G>A (p.Gly228Asp) rs863225280
NM_001289910.1(IDH2):c.263G>A (p.Arg88Gln) rs121913502
NM_001297.5(CNGB1):c.3115G>A (p.Gly1039Arg) rs148999583
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys) rs1064795559
NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp) rs864309503
NM_001304717.5(PTEN):c.1322-5_1322-3del rs34003473
NM_001304718.2(PTEN):c.-612_-610ATT[1] rs1554893765
NM_001308.3(CPN1):c.533G>A (p.Gly178Asp) rs61751507
NM_001314077.1(PROS1):c.1624G>A (p.Val542Met) rs138925964
NM_001314077.1(PROS1):c.215G>T (p.Arg72Leu) rs7614835
NM_001314077.1(PROS1):c.76+7A>G rs201928951
NM_001318836.2(BCS1L):c.-40-277A>G rs755305281
NM_001323289.2(CDKL5):c.2389G>A (p.Asp797Asn) rs140313320
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684
NM_001330260.2(SCN8A):c.2300C>T (p.Thr767Ile) rs797045013
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln) rs587780586
NM_001330260.2(SCN8A):c.3822C>T (p.Val1274=) rs187327463
NM_001330260.2(SCN8A):c.4492A>G (p.Lys1498Glu)
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser) rs587780455
NM_001330368.2(C11orf65):c.640+20504dup rs587780645
NM_001330368.2(C11orf65):c.641-34174_641-34173del rs879254036
NM_001348803.2(ZBTB20):c.1164C>G (p.Asp388Glu) rs144663365
NM_001348803.2(ZBTB20):c.1318G>A (p.Glu440Lys)
NM_001358530.2(MOCS1):c.1015C>T (p.Arg339Trp) rs148579886
NM_001360.2(DHCR7):c.99-4G>A rs140748737
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro) rs76723693
NM_001364905.1(LRBA):c.5906G>C (p.Gly1969Ala)
NM_001365276.2(TNXB):c.12224G>A (p.Arg4075His) rs201510617
NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val) rs182650126
NM_001365536.1(SCN9A):c.2827A>C (p.Met943Leu) rs12478318
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser) rs141268327
NM_001366385.1(CARD14):c.1772C>T (p.Thr591Met) rs200102454
NM_001369268.1(ACAN):c.230G>A (p.Arg77His) rs199701329
NM_001369848.1(PRSS56):c.1798C>G (p.Pro600Ala) rs61744404
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685
NM_001370658.1(BTD):c.1395C>G (p.His465Gln) rs201604102
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu) rs146136265
NM_001370658.1(BTD):c.281G>T (p.Gly94Val) rs375712490
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser) rs119103232
NM_001370658.1(BTD):c.40_41del (p.Gly14fs) rs765906887
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139
NM_001370658.1(BTD):c.820A>G (p.Ile274Val) rs35976361
NM_001370658.1(BTD):c.908A>G (p.His303Arg) rs397507176
NM_001376.5(DYNC1H1):c.7979T>G (p.Val2660Gly)
NM_001399.5(EDA):c.206G>T (p.Arg69Leu) rs132630309
NM_001399.5(EDA):c.458G>A (p.Arg153His)
NM_001399.5(EDA):c.491A>C (p.Glu164Ala) rs397516663
NM_001429.4(EP300):c.2091T>G (p.Ser697Arg) rs61756764
NM_001429.4(EP300):c.2773C>A (p.Pro925Thr) rs148884710
NM_001429.4(EP300):c.3573T>A (p.Tyr1191Ter) rs565779970
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del) rs533875300
NM_001430.5(EPAS1):c.1121T>A (p.Phe374Tyr) rs150797491
NM_001457.4(FLNB):c.6956T>C (p.Ile2319Thr) rs116826041
NM_001458.4(FLNC):c.3557C>T (p.Ala1186Val) rs1114167361
NM_001482.3(GATM):c.330A>T (p.Gln110His) rs1288775
NM_001605.2(AARS1):c.1685C>T (p.Thr562Ile) rs148355156
NM_001605.2(AARS1):c.671+3A>G rs74024185
NM_001605.2(AARS1):c.824G>A (p.Gly275Asp) rs11537667
NM_001710.5(CFB):c.1598A>G (p.Lys533Arg) rs149101394
NM_001710.5(CFB):c.26T>A (p.Leu9His) rs4151667
NM_001734.5(C1S):c.943G>A (p.Asp315Asn) rs117907409
NM_001754.4(RUNX1):c.*4188G>C rs761390141
NM_001844.5(COL2A1):c.1649G>T (p.Arg550Leu) rs186233557
NM_001845.6(COL4A1):c.1055C>T (p.Pro352Leu) rs200786329
NM_001845.6(COL4A1):c.2086G>A (p.Gly696Ser) rs587780588
NM_001846.4(COL4A2):c.3368A>G (p.Glu1123Gly) rs117412802
NM_001846.4(COL4A2):c.3448C>A (p.Gln1150Lys) rs62621875
NM_001846.4(COL4A2):c.5068G>A (p.Ala1690Thr) rs201105747
NM_001849.3(COL6A2):c.1970-9G>A rs747900252
NM_001849.3(COL6A2):c.2192C>T (p.Thr731Met) rs794727419
NM_001849.3(COL6A2):c.2351G>A (p.Arg784His) rs75120695
NM_001849.3(COL6A2):c.2558G>A (p.Arg853Gln) rs144830948
NM_001849.3(COL6A2):c.316G>A (p.Glu106Lys) rs141703710
NM_001851.5(COL9A1):c.1349A>G (p.Glu450Gly) rs77706858
NM_001853.4(COL9A3):c.50G>A (p.Gly17Glu) rs2294984
NM_001854.4(COL11A1):c.4603T>C (p.Ser1535Pro) rs1676486
NM_001854.4(COL11A1):c.560C>T (p.Thr187Met)
NM_001875.5(CPS1):c.167T>G (p.Met56Arg) rs778958318
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val) rs141373204
NM_001875.5(CPS1):c.4172C>T (p.Thr1391Met) rs1392934477
NM_001875.5(CPS1):c.449G>A (p.Gly150Glu) rs114819130
NM_001904.4(CTNNB1):c.860A>G (p.Asn287Ser) rs35288908
NM_001927.4(DES):c.897+4_897+5del rs397516699
NM_001943.5(DSG2):c.1174G>A (p.Val392Ile) rs193922639
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013
NM_001953.4(TYMP):c.929-6_929-3del rs201685922
NM_001972.4(ELANE):c.377C>T (p.Ser126Leu) rs137854450
NM_001972.4(ELANE):c.655G>A (p.Val219Ile) rs17216656
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser) rs145259927
NM_001999.4(FBN2):c.829G>A (p.Val277Ile) rs146849637
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser) rs28763954
NM_002016.1(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002016.1(FLG):c.2282_2285delCAGT rs558269137
NM_002016.1(FLG):c.2476C>T (p.Arg826Ter) rs115746363
NM_002016.1(FLG):c.9740C>A (p.Ser3247Ter) rs150597413
NM_002052.5(GATA4):c.1273G>A (p.Asp425Asn) rs56208331
NM_002055.5(GFAP):c.140C>T (p.Pro47Leu) rs57474185
NM_002055.5(GFAP):c.667G>C (p.Glu223Gln) rs56679084
NM_002150.3(HPD):c.1005C>G (p.Ile335Met) rs137852868
NM_002180.2(IGHMBP2):c.1313dup (p.Thr439fs) rs1566443170
NM_002185.5(IL7R):c.197T>C (p.Ile66Thr) rs1494558
NM_002185.5(IL7R):c.412G>A (p.Val138Ile) rs1494555
NM_002206.3(ITGA7):c.2644G>A (p.Glu882Lys) rs144983062
NM_002234.4(KCNA5):c.464A>G (p.Tyr155Cys) rs202117321
NM_002256.4(KISS1):c.268C>G (p.His90Asp) rs201073751
NM_002273.4(KRT8):c.160T>C (p.Tyr54His) rs57749775
NM_002273.4(KRT8):c.187A>G (p.Ile63Val) rs59536457
NM_002283.4(KRT85):c.233G>A (p.Arg78His) rs61630004
NM_002335.4(LRP5):c.1999G>A (p.Val667Met) rs4988321
NM_002354.2(EPCAM):c.*362A>G rs539981178
NM_002382.5(MAX):c.172-6230G>A
NM_002420.6(TRPM1):c.2083G>C (p.Ala695Pro) rs138944426
NM_002437.5(MPV17):c.268_270TTG[1] (p.Leu91del) rs267607264
NM_002439.5(MSH3):c.162_179del (p.Ala57_Ala62del)
NM_002469.3(MYF6):c.269C>A (p.Ala90Asp) rs138296448
NM_002470.4(MYH3):c.4910C>T (p.Ala1637Val) rs34165480
NM_002471.3(MYH6):c.1763A>C (p.Asp588Ala) rs142992009
NM_002471.3(MYH6):c.3195G>C (p.Gln1065His) rs267606904
NM_002471.3(MYH6):c.4136C>T (p.Thr1379Met) rs145611185
NM_002471.3(MYH6):c.824T>A (p.Ile275Asn) rs201327273
NM_002472.3(MYH8):c.5350C>G (p.Arg1784Gly) rs141215006
NM_002473.5(MYH9):c.2104C>T (p.Arg702Cys) rs80338826
NM_002473.5(MYH9):c.3340T>C (p.Ser1114Pro) rs200901330
NM_002473.5(MYH9):c.4198C>T (p.Arg1400Trp) rs76368635
NM_002473.5(MYH9):c.4952T>C (p.Met1651Thr) rs142094977
NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln) rs34321232
NM_002474.3(MYH11):c.5676G>C (p.Glu1892Asp) rs113964173
NM_002474.3(MYH11):c.739C>T (p.Arg247Cys) rs150759461
NM_002485.4(NBN):c.-26G>A rs201392451
NM_002485.4(NBN):c.120G>T (p.Ser40=) rs774989816
NM_002485.4(NBN):c.1262T>C (p.Leu421Ser) rs104895032
NM_002485.4(NBN):c.1354A>C (p.Thr452Pro) rs141137543
NM_002485.4(NBN):c.1591A>G (p.Ile531Val) rs587782330
NM_002485.4(NBN):c.171+4T>C rs587782290
NM_002485.4(NBN):c.1777C>G (p.Pro593Ala) rs146989944
NM_002485.4(NBN):c.2029G>A (p.Asp677Asn) rs730881856
NM_002485.4(NBN):c.266G>A (p.Arg89Gln) rs747315554
NM_002485.4(NBN):c.283G>A (p.Asp95Asn) rs61753720
NM_002485.4(NBN):c.37+2dup rs876658183
NM_002485.4(NBN):c.37+5G>A rs116735828
NM_002485.4(NBN):c.38-10T>A rs556807466
NM_002485.4(NBN):c.381T>C (p.Ala127=) rs61754795
NM_002485.4(NBN):c.425A>G (p.Asn142Ser) rs769414
NM_002485.4(NBN):c.511A>G (p.Ile171Val) rs61754966
NM_002485.4(NBN):c.628G>T (p.Val210Phe) rs61754796
NM_002485.4(NBN):c.643C>T (p.Arg215Trp) rs34767364
NM_002485.4(NBN):c.788T>C (p.Phe263Ser) rs147626427
NM_002495.4(NDUFS4):c.198A>C (p.Gly66=) rs31304
NM_002529.3(NTRK1):c.1187C>T (p.Ser396Leu) rs199646180
NM_002529.3(NTRK1):c.16C>T (p.Arg6Trp) rs201472270
NM_002529.3(NTRK1):c.1810C>T (p.His604Tyr) rs6336
NM_002529.3(NTRK1):c.253C>A (p.Arg85Ser) rs543320028
NM_002529.3(NTRK1):c.509T>C (p.Val170Ala) rs201503610
NM_002529.3(NTRK1):c.570C>G (p.Ser190Arg) rs138608619
NM_002529.3(NTRK1):c.865C>A (p.Gln289Lys) rs137979116
NM_002529.3(NTRK1):c.940C>T (p.Arg314Cys) rs137994522
NM_002609.4(PDGFRB):c.3287C>T (p.Ala1096Val)
NM_002637.4(PHKA1):c.3364G>C (p.Glu1122Gln) rs202007590
NM_002691.4(POLD1):c.1092G>C (p.Leu364=) rs139883454
NM_002691.4(POLD1):c.1620C>T (p.Gly540=) rs140216790
NM_002691.4(POLD1):c.1795G>A (p.Ala599Thr) rs149569984
NM_002691.4(POLD1):c.2052G>C (p.Gln684His) rs144143245
NM_002691.4(POLD1):c.2275G>A (p.Val759Ile) rs145473716
NM_002691.4(POLD1):c.2337G>A (p.Ala779=) rs147108748
NM_002691.4(POLD1):c.2577C>T (p.Gly859=) rs149366027
NM_002691.4(POLD1):c.2967G>A (p.Thr989=) rs3218752
NM_002691.4(POLD1):c.3054G>A (p.Val1018=) rs369613619
NM_002691.4(POLD1):c.455C>T (p.Ala152Val) rs41563714
NM_002691.4(POLD1):c.714G>A (p.Thr238=) rs149096523
NM_002691.4(POLD1):c.773C>T (p.Thr258Met) rs76131127
NM_002691.4(POLD1):c.80A>T (p.Asp27Val) rs150066950
NM_002691.4(POLD1):c.883G>A (p.Val295Met) rs199545019
NM_002691.4(POLD1):c.900G>A (p.Pro300=) rs142407935
NM_002693.2(POLG):c.1198G>A (p.Val400Met)
NM_002693.2(POLG):c.2246T>C (p.Phe749Ser) rs202037973
NM_002693.2(POLG):c.2492A>G (p.Tyr831Cys) rs41549716
NM_002693.2(POLG):c.3242G>A (p.Arg1081Gln) rs140079523
NM_002693.2(POLG):c.3436C>T (p.Arg1146Cys) rs2307440
NM_002693.2(POLG):c.803G>C (p.Gly268Ala) rs61752784
NM_002693.2(POLG):c.844T>G (p.Tyr282Asp)
NM_002739.5(PRKCG):c.230G>A (p.Cys77Tyr)
NM_002755.3(MAP2K1):c.370C>T (p.Pro124Ser) rs1057519732
NM_002769.5(PRSS1):c.161A>G (p.Asn54Ser) rs144422014
NM_002769.5(PRSS1):c.200+1G>A rs143909348
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val) rs202003805
NM_002769.5(PRSS1):c.86A>C (p.Asn29Thr) rs111033566
NM_002769.5(PRSS1):c.86A>T (p.Asn29Ile) rs111033566
NM_002834.4(PTPN11):c.1658C>T (p.Thr553Met) rs148176616
NM_002834.4(PTPN11):c.1678C>T (p.Leu560Phe) rs397516797
NM_002834.4(PTPN11):c.794G>A (p.Arg265Gln) rs376607329
NM_002834.4(PTPN11):c.925A>G (p.Ile309Val) rs201787206
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu) rs143759519
NM_002863.5(PYGL):c.1900G>C (p.Asp634His) rs35026927
NM_002863.5(PYGL):c.697G>A (p.Gly233Ser) rs749922511
NM_002875.5(RAD51):c.449G>A (p.Arg150Gln) rs121917739
NM_002878.3(RAD51D):c.146C>T (p.Ala49Val) rs140317560
NM_002878.3(RAD51D):c.1A>G (p.Met1Val) rs561425038
NM_002878.3(RAD51D):c.263+1509C>T rs201506572
NM_002878.3(RAD51D):c.263+1588A>G rs180869630
NM_002878.3(RAD51D):c.263+1605G>A rs147933658
NM_002878.3(RAD51D):c.26G>C (p.Cys9Ser) rs140825795
NM_002878.3(RAD51D):c.355T>C (p.Cys119Arg) rs201313861
NM_002878.3(RAD51D):c.363del (p.Ala122fs) rs730881935
NM_002878.3(RAD51D):c.481-8C>T rs762247126
NM_002878.3(RAD51D):c.556C>T (p.Arg186Ter) rs387906843
NM_002878.3(RAD51D):c.568G>A (p.Ala190Thr) rs80116829
NM_002878.3(RAD51D):c.715C>T (p.Arg239Trp) rs770250516
NM_002878.3(RAD51D):c.796C>T (p.Arg266Cys) rs587781813
NM_002878.3(RAD51D):c.904-3C>T rs45478491
NM_002878.3(RAD51D):c.919G>A (p.Glu307Lys) rs115031549
NM_002878.3(RAD51D):c.932T>A (p.Ile311Asn) rs145309168
NM_002878.3(RAD51D):c.983C>T (p.Thr328Ile) rs138969595
NM_002880.3(RAF1):c.1082G>C (p.Gly361Ala) rs397516813
NM_002880.3(RAF1):c.122G>A (p.Arg41Gln) rs145611571
NM_002880.3(RAF1):c.776C>A (p.Ser259Tyr) rs397516827
NM_002892.4(ARID4A):c.3211+1G>A rs62621193
NM_002907.4(RECQL):c.1215A>C (p.Ala405=) rs147610182
NM_002907.4(RECQL):c.1483G>C (p.Asp495His) rs6499
NM_002907.4(RECQL):c.426del (p.Met144fs) rs753723230
NM_002937.5(RNASE4):c.-17-5541A>G rs17560
NM_002937.5(RNASE4):c.-17-5669A>T rs121909536
NM_002968.2(SALL1):c.3794G>A (p.Gly1265Glu) rs149302006
NM_002968.2(SALL1):c.949C>T (p.Pro317Ser) rs864621971
NM_003000.2(SDHB):c.200+7A>G rs371329778
NM_003000.2(SDHB):c.32G>A (p.Arg11His) rs111430410
NM_003000.2(SDHB):c.423+20T>A rs190139590
NM_003000.2(SDHB):c.487T>C (p.Ser163Pro) rs33927012
NM_003000.2(SDHB):c.638T>C (p.Met213Thr) rs202014362
NM_003000.2(SDHB):c.650G>A (p.Arg217His) rs747518441
NM_003000.2(SDHB):c.8C>G (p.Ala3Gly) rs11203289
NM_003002.4(SDHD):c.149A>G (p.His50Arg) rs11214077
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser) rs34677591
NM_003018.4(SFTPC):c.500G>A (p.Arg167Gln) rs34957318
NM_003036.4(SKI):c.1163C>T (p.Ala388Val) rs75280988
NM_003041.4(SLC5A2):c.885+5G>A rs200228142
NM_003042.4(SLC6A1):c.1648G>A (p.Gly550Arg) rs886042046
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser) rs139203363
NM_003060.4(SLC22A5):c.453G>A (p.Val151=) rs386134194
NM_003070.5(SMARCA2):c.4717G>A (p.Asp1573Asn) rs61736899
NM_003098.2(SNTA1):c.440C>A (p.Thr147Asn) rs141724500
NM_003098.2(SNTA1):c.770C>G (p.Ala257Gly) rs56157422
NM_003119.4(SPG7):c.1457G>A (p.Arg486Gln) rs111475461
NM_003122.4(SPINK1):c.101A>G (p.Asn34Ser) rs17107315
NM_003122.4(SPINK1):c.163C>T (p.Pro55Ser) rs111966833
NM_003122.4(SPINK1):c.1A>T (p.Met1Leu) rs369163833
NM_003122.4(SPINK1):c.200G>A (p.Arg67His) rs35523678
NM_003126.4(SPTA1):c.2909C>A (p.Ala970Asp) rs35948326
NM_003159.2(CDKL5):c.2896G>A (p.Val966Ile) rs747799506
NM_003165.4(STXBP1):c.874C>T (p.Arg292Cys) rs786205598
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_003242.6(TGFBR2):c.1570G>A (p.Asp524Asn) rs727504421
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr) rs112215250
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met) rs34833812
NM_003242.6(TGFBR2):c.985G>A (p.Ala329Thr) rs148665451
NM_003322.6(TULP1):c.776T>C (p.Ile259Thr) rs2064317
NM_003361.3(UMOD):c.1406C>T (p.Thr469Met) rs143583842
NM_003373.4(VCL):c.2746-2159_2746-2157del rs397517237
NM_003413.4(ZIC3):c.135_137CGC[8] (p.Ala55del) rs748325646
NM_003477.3(PDHX):c.976G>C (p.Val326Leu) rs35560997
NM_003482.3(KMT2D):c.10192A>G (p.Met3398Val) rs75937132
NM_003482.3(KMT2D):c.10256A>G (p.Asp3419Gly) rs146044282
NM_003482.3(KMT2D):c.12485G>A (p.Arg4162Gln)
NM_003482.3(KMT2D):c.15061C>T (p.Arg5021Ter) rs587783695
NM_003482.3(KMT2D):c.2250_2276del (p.746_754RPEEPHLSP[1]) rs587778449
NM_003482.3(KMT2D):c.3572C>T (p.Pro1191Leu) rs112236653
NM_003482.3(KMT2D):c.4163G>T (p.Arg1388Leu) rs202217665
NM_003482.3(KMT2D):c.6811C>T (p.Pro2271Ser) rs199802471
NM_003611.3(OFD1):c.1100G>A (p.Arg367Gln) rs312262864
NM_003640.5(ELP1):c.2294G>A (p.Gly765Glu) rs2230792
NM_003640.5(ELP1):c.3214T>A (p.Cys1072Ser) rs3204145
NM_003665.3(FCN3):c.349del (p.Leu117fs) rs532781899
NM_003673.3(TCAP):c.34_36GAG[1] (p.Glu13del) rs397516862
NM_003688.3(CASK):c.1186C>T (p.Pro396Ser) rs137852820
NM_003688.3(CASK):c.1465C>T (p.Arg489Trp) rs1114167352
NM_003688.3(CASK):c.1609C>T (p.Arg537Ter) rs1555981717
NM_003688.3(CASK):c.82C>T (p.Arg28Ter) rs587783370
NM_003690.5(PRKRA):c.1A>C (p.Met1Leu) rs9406386
NM_003690.5(PRKRA):c.20_21GC[1] (p.Ala8fs) rs141354030
NM_003738.5(PTCH2):c.1170_1171CT[1] (p.Phe390_Ser391insTer) rs56126236
NM_003742.4(ABCB11):c.1772A>G (p.Asn591Ser) rs11568367
NM_003829.5(MPDZ):c.2344G>A (p.Gly782Arg)
NM_003850.2(SUCLA2):c.920C>T (p.Ala307Val) rs1011464708
NM_003865.2(HESX1):c.-276T>G rs983243
NM_003977.4(AIP):c.145G>A (p.Val49Met) rs1063385
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224
NM_004004.6(GJB2):c.23C>T (p.Thr8Met) rs529500747
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.412A>G (p.Ser138Gly) rs397516876
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp) rs376898963
NM_004004.6(GJB2):c.499G>A (p.Val167Met) rs111033360
NM_004004.6(GJB2):c.511G>A (p.Ala171Thr) rs201004645
NM_004006.2(DMD):c.10262+1G>A rs145603325
NM_004006.2(DMD):c.1329C>T (p.Ser443=) rs1060502631
NM_004006.2(DMD):c.2261G>T (p.Gly754Val) rs151242451
NM_004006.2(DMD):c.2827C>T (p.Arg943Cys) rs199986217
NM_004006.2(DMD):c.3603+1G>T rs1209389771
NM_004006.2(DMD):c.3970C>T (p.Arg1324Cys) rs143184877
NM_004006.2(DMD):c.4233+2C>T rs147474070
NM_004006.2(DMD):c.5026-2A>G rs1569559849
NM_004006.2(DMD):c.7183G>A (p.Ala2395Thr) rs72466590
NM_004006.2(DMD):c.799C>T (p.Gln267Ter) rs878854383
NM_004006.2(DMD):c.8138A>G (p.Asn2713Ser) rs758633794
NM_004006.2(DMD):c.821A>G (p.Tyr274Cys) rs745868830
NM_004070.4(CLCNKA):c.935C>T (p.Thr312Ile)
NM_004082.4(DCTN1):c.2353C>T (p.Arg785Trp) rs121909344
NM_004082.4(DCTN1):c.3746C>T (p.Thr1249Ile) rs72466496
NM_004092.4(ECHS1):c.518C>T (p.Ala173Val) rs150321966
NM_004092.4(ECHS1):c.5C>T (p.Ala2Val) rs587776498
NM_004168.4(SDHA):c.1523C>T (p.Thr508Ile) rs151266052
NM_004168.4(SDHA):c.1969G>A (p.Val657Ile) rs6962
NM_004183.4(BEST1):c.1474G>A (p.Val492Ile) rs111326315
NM_004187.5(KDM5C):c.807del (p.Thr270fs) rs1569278313
NM_004211.3(SLC6A5):c.1640T>C (p.Phe547Ser) rs772652517
NM_004252.5(SLC9A3R1):c.328C>G (p.Leu110Val) rs35910969
NM_004260.3(RECQL4):c.1397C>T (p.Pro466Leu) rs386833844
NM_004260.3(RECQL4):c.1704+9C>T rs35876881
NM_004260.3(RECQL4):c.1954G>A (p.Val652Met) rs61754061
NM_004260.3(RECQL4):c.308C>T (p.Pro103Leu) rs199543866
NM_004281.3(BAG3):c.1138C>T (p.Pro380Ser) rs144692954
NM_004281.3(BAG3):c.249C>A (p.His83Gln) rs151331972
NM_004281.3(BAG3):c.280A>T (p.Ile94Phe) rs145393807
NM_004281.3(BAG3):c.772C>T (p.Arg258Trp) rs117671123
NM_004285.4(H6PD):c.745+88T>A rs12032814
NM_004287.4(GOSR2):c.200G>A (p.Arg67Lys) rs197922
NM_004321.7(KIF1A):c.173C>T (p.Ser58Leu) rs672601362
NM_004321.7(KIF1A):c.2956C>T (p.Pro986Ser) rs143037290
NM_004329.2(BMPR1A):c.1243G>A (p.Glu415Lys) rs140592056
NM_004329.2(BMPR1A):c.1327C>T (p.Arg443Cys) rs35619497
NM_004333.6(BRAF):c.1783T>C (p.Phe595Leu) rs794729219
NM_004360.5(CDH1):c.1008+8G>T
NM_004360.5(CDH1):c.1018A>G (p.Thr340Ala) rs116093741
NM_004360.5(CDH1):c.1118C>T (p.Pro373Leu) rs587782359
NM_004360.5(CDH1):c.1223C>T (p.Ala408Val) rs138135866
NM_004360.5(CDH1):c.1273G>A (p.Val425Ile) rs570930882
NM_004360.5(CDH1):c.1416C>T (p.Thr472=) rs139937234
NM_004360.5(CDH1):c.1417G>A (p.Val473Ile) rs36087757
NM_004360.5(CDH1):c.1680G>C (p.Thr560=) rs35741240
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr) rs35187787
NM_004360.5(CDH1):c.1937-4C>T rs1057523153
NM_004360.5(CDH1):c.214G>A (p.Asp72Asn) rs35606263
NM_004360.5(CDH1):c.2292C>T (p.Asp764=) rs61747636
NM_004360.5(CDH1):c.2329G>A (p.Asp777Asn) rs372989292
NM_004360.5(CDH1):c.2387G>A (p.Arg796Gln) rs587782549
NM_004360.5(CDH1):c.2413G>A (p.Asp805Asn) rs200894246
NM_004360.5(CDH1):c.2439+10C>T rs35236080
NM_004360.5(CDH1):c.2440-6C>G rs139757930
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly) rs121964872
NM_004360.5(CDH1):c.2520C>T (p.Ser840=) rs140328601
NM_004360.5(CDH1):c.2635G>A (p.Gly879Ser) rs200911775
NM_004360.5(CDH1):c.2638G>A (p.Glu880Lys) rs34507583
NM_004360.5(CDH1):c.269G>A (p.Arg90Gln) rs587782647
NM_004360.5(CDH1):c.304G>A (p.Ala102Thr) rs368492235
NM_004360.5(CDH1):c.371G>A (p.Arg124His) rs115418995
NM_004360.5(CDH1):c.387+5G>A rs113055163
NM_004360.5(CDH1):c.670C>T (p.Arg224Cys) rs200310662
NM_004360.5(CDH1):c.671G>A (p.Arg224His) rs201511530
NM_004360.5(CDH1):c.808T>G (p.Ser270Ala) rs587776399
NM_004360.5(CDH1):c.820G>A (p.Gly274Ser) rs781513008
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr) rs139866691
NM_004360.5(CDH1):c.892G>A (p.Ala298Thr) rs142822590
NM_004366.6(CLCN2):c.218G>A (p.Arg73His) rs144412275
NM_004366.6(CLCN2):c.704G>A (p.Arg235Gln) rs71318369
NM_004369.3(COL6A3):c.1292C>T (p.Pro431Leu) rs144746928
NM_004369.3(COL6A3):c.2030G>A (p.Arg677His) rs35227432
NM_004369.3(COL6A3):c.4912G>A (p.Ala1638Thr) rs114322958
NM_004369.3(COL6A3):c.5261A>G (p.Lys1754Arg) rs77632596
NM_004369.3(COL6A3):c.6156+4C>T rs111228504
NM_004369.3(COL6A3):c.7258C>T (p.Arg2420Trp) rs150165484
NM_004370.6(COL12A1):c.9083G>A (p.Arg3028His) rs41266761
NM_004385.5(VCAN):c.9265+1G>T rs80356553
NM_004387.4(NKX2-5):c.61G>C (p.Glu21Gln) rs104893904
NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys) rs28936670
NM_004387.4(NKX2-5):c.943G>T (p.Val315Leu) rs201249977
NM_004415.4(DSP):c.*9T>A rs11558732
NM_004415.4(DSP):c.5513G>A (p.Arg1838His) rs377715841
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln) rs116888866
NM_004453.4(ETFDH):c.1388G>A (p.Gly463Asp) rs1561251388
NM_004463.3(FGD1):c.395G>A (p.Arg132Gln) rs145644275
NM_004473.4(FOXE1):c.743C>G (p.Ala248Gly) rs538912281
NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser) rs74582884
NM_004525.3(LRP2):c.12628A>C (p.Ile4210Leu) rs4667591
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg) rs1801316
NM_004544.4(NDUFA10):c.712G>A (p.Glu238Lys) rs35462421
NM_004550.4(NDUFS2):c.968G>A (p.Arg323Gln) rs35086265
NM_004560.4(ROR2):c.2455G>A (p.Val819Ile) rs10761129
NM_004562.3(PRKN):c.458C>G (p.Pro153Arg) rs55654276
NM_004572.3(PKP2):c.1093A>G (p.Met365Val) rs143900944
NM_004572.3(PKP2):c.156G>A (p.Lys52=) rs201210997
NM_004572.3(PKP2):c.1576A>G (p.Thr526Ala) rs397516999
NM_004572.3(PKP2):c.1577C>T (p.Thr526Met) rs146882581
NM_004572.3(PKP2):c.1759G>A (p.Val587Ile) rs146102241
NM_004572.3(PKP2):c.2062T>C (p.Ser688Pro) rs144601090
NM_004572.3(PKP2):c.2392A>G (p.Thr798Ala) rs112592855
NM_004572.3(PKP2):c.2431C>A (p.Arg811Ser) rs139734328
NM_004572.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859
NM_004572.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808
NM_004577.4(PSPH):c.650T>C (p.Val217Ala) rs73343752
NM_004577.4(PSPH):c.95A>G (p.Asp32Gly) rs78599516
NM_004586.3(RPS6KA3):c.2168G>A (p.Arg723His) rs144984628
NM_004615.3(TSPAN7):c.515C>A (p.Pro172His) rs104894951
NM_004628.4(XPC):c.1001C>A (p.Pro334His) rs74737358
NM_004643.3(PABPN1):c.3GGC[10] (p.Ala9_Ala11dup) rs193922941
NM_004646.3(NPHS1):c.1802G>C (p.Gly601Ala) rs114615449
NM_004646.3(NPHS1):c.2126T>G (p.Val709Gly) rs386833902
NM_004646.3(NPHS1):c.515_517del (p.Thr172del) rs386833947
NM_004646.3(NPHS1):c.563A>T (p.Asn188Ile) rs145125791
NM_004655.4(AXIN2):c.1059+8C>T rs367595502
NM_004655.4(AXIN2):c.2083G>T (p.Ala695Ser) rs140510381
NM_004656.4(BAP1):c.121G>A (p.Gly41Ser) rs372586694
NM_004656.4(BAP1):c.1408G>A (p.Gly470Arg) rs576538858
NM_004656.4(BAP1):c.1962A>C (p.Val654=) rs148624125
NM_004700.4(KCNQ4):c.648C>T (p.Arg216=) rs80358269
NM_004807.3(HS6ST1):c.1144C>T (p.Arg382Trp) rs199538589
NM_004807.3(HS6ST1):c.745C>A (p.Arg249Ser)
NM_004836.7(EIF2AK3):c.407C>G (p.Ser136Cys) rs867529
NM_004836.7(EIF2AK3):c.497A>G (p.Gln166Arg) rs13045
NM_004840.3(ARHGEF6):c.169T>C (p.Cys57Arg) rs147131853
NM_004895.4(NLRP3):c.598G>A (p.Val200Met) rs121908147
NM_004960.3(FUS):c.*41G>A rs80301724