ClinVar Miner

Variants from Counsyl with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from Counsyl: Collection method of the submission from Counsyl:
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
9740 4861 377 3786 1769 138 1191 6338

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
Counsyl pathogenic likely pathogenic uncertain significance likely benign benign affects association drug response protective risk factor other
pathogenic 156 321 91 6 2 8 2 19 5 28 14
likely pathogenic 2495 107 268 9 5 12 0 11 0 11 8
uncertain significance 395 485 56 1060 325 3 2 4 1 6 4
likely benign 20 13 554 14 736 0 0 1 0 1 4
benign 7 1 97 234 44 0 0 0 1 3 2
other 0 0 0 1 1 0 0 0 0 0 0

Submitter to submitter summary #

Total submitters: 296
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 4293 0 1564 586 3 154 2305
GeneDx 0 3005 0 1106 354 2 203 1664
Ambry Genetics 0 3121 1 537 466 0 59 1062
Color 0 2335 0 352 545 0 17 914
Integrated Genetics/Laboratory Corporation of America 0 1890 3 634 199 1 45 882
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 1143 0 647 77 5 107 835
OMIM 0 605 0 438 9 69 158 669
Illumina Clinical Services Laboratory,Illumina 0 600 0 246 144 0 110 492
Quest Diagnostics Nichols Institute San Juan Capistrano 0 1215 0 286 119 0 16 421
GeneReviews 0 152 156 183 0 1 26 365
Baylor Genetics 0 397 0 272 1 0 67 339
Mendelics 0 802 0 158 103 1 52 311
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 732 0 179 107 1 18 305
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 584 0 221 25 0 38 284
Sharing Clinical Reports Project (SCRP) 0 448 0 131 145 0 4 280
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 453 0 204 32 0 4 240
Fulgent Genetics,Fulgent Genetics 0 668 0 219 3 0 5 227
PreventionGenetics,PreventionGenetics 0 552 0 138 60 1 3 202
Department of Pathology and Laboratory Medicine,Sinai Health System 0 327 0 137 49 0 8 194
Breast Cancer Information Core (BIC) (BRCA2) 0 367 0 60 119 0 13 192
Breast Cancer Information Core (BIC) (BRCA1) 0 227 0 33 106 0 17 156
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 5 104 31 0 0 7 142
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 12 90 9 31 0 2 132
Research and Development, ARUP Laboratories 0 84 3 61 5 0 63 132
Athena Diagnostics Inc 0 149 0 107 12 0 12 130
Genetic Services Laboratory, University of Chicago 0 228 0 84 30 1 10 125
CeGaT Praxis fuer Humangenetik Tuebingen 0 234 0 19 53 0 34 106
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 224 0 58 19 0 7 84
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 239 0 80 0 0 2 82
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 149 0 60 15 0 2 77
CFTR-France 0 113 0 51 1 0 25 77
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 131 0 53 7 0 14 74
True Health Diagnostics 0 158 0 47 19 1 1 67
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 0 192 0 49 3 0 4 56
Michigan Medical Genetics Laboratories,University of Michigan 0 126 0 49 6 0 0 55
CFTR2 0 138 0 53 0 0 2 55
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 134 0 50 4 0 0 54
NIHR Bioresource Rare Diseases, University of Cambridge 0 58 0 24 0 0 28 51
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 81 0 26 18 0 5 49
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 102 0 40 8 0 0 48
Clinical Biochemistry Laboratory,Health Services Laboratory 0 19 0 37 1 0 8 46
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 54 0 20 6 0 20 46
CSER _CC_NCGL, University of Washington 0 77 0 16 26 0 3 45
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 82 0 33 7 0 1 41
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 57 0 21 15 0 5 41
University of Washington Department of Laboratory Medicine, University of Washington 0 91 0 15 19 1 4 39
GeneKor MSA 0 194 0 28 7 1 1 37
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 0 85 16 8 11 0 1 36
ClinGen PAH Variant Curation Expert Panel 0 62 0 26 1 0 9 36
Sharon lab,Hadassah-Hebrew University Medical Center 0 27 0 22 0 0 13 35
PharmGKB 0 0 0 0 0 33 0 33
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 78 0 26 5 0 2 33
Pathway Genomics 0 75 0 30 2 0 0 32
Vantari Genetics 0 30 0 18 8 0 0 26
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 36 0 13 2 1 10 26
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency 0 70 0 22 4 0 0 26
National Institute of Sensory Organs,National Hospital Organization Tokyo Medical Center 0 1 0 0 0 26 0 26
Institute of Human Genetics,Klinikum rechts der Isar 0 36 0 16 0 0 6 22
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 21 0 5 6 0 10 21
Broad Institute Rare Disease Group,Broad Institute 0 35 0 17 0 0 5 21
Gharavi Laboratory,Columbia University 0 24 0 9 1 0 11 21
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 44 0 18 0 1 1 20
Database of Curated Mutations (DoCM) 0 5 0 11 0 0 9 20
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 0 18 0 18 2 0 1 20
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 42 0 15 0 0 3 18
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 13 0 15 0 0 3 18
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 16 0 10 0 0 8 18
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 28 0 10 1 0 7 18
Division of Human Genetics,Children's Hospital of Philadelphia 0 42 0 14 0 0 3 17
SIB Swiss Institute of Bioinformatics 0 21 0 13 1 0 3 17
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 20 0 8 1 0 8 17
Institute for Ophthalmic Research,University Tuebingen 0 5 0 13 0 0 3 16
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 46 0 10 3 0 4 16
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 24 0 11 1 0 3 15
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 0 8 0 13 0 0 2 15
Department of Pathology and Molecular Medicine,Queen's University 0 39 0 13 2 0 0 15
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 0 25 0 9 1 0 4 14
Department of Medical Genetics,Oslo University Hospital 0 50 0 14 0 0 1 14
Cancer Genetics Laboratory,Peter MacCallum Cancer Centre 0 28 0 8 6 0 0 14
ClinGen Hearing Loss Variant Curation Expert Panel, 0 28 0 5 4 0 5 14
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne 0 41 0 12 0 0 2 14
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center 0 23 0 2 9 0 2 13
Blueprint Genetics 0 22 0 6 0 0 6 12
ClinGen CDH1 Variant Curation Expert Panel 0 10 0 5 7 0 0 12
Natera Inc 0 19 0 7 1 0 4 12
Center for Human Genetics, Inc 0 16 0 5 5 0 1 11
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 0 19 0 6 0 0 5 11
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 25 0 7 2 0 4 11
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 19 0 9 0 0 2 11
Molecular Diagnostics Laboratory, M Health: University of Minnesota 0 9 0 6 0 0 5 11
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 3 0 5 1 0 5 10
Reproductive Health Research and Development,BGI Genomics 0 32 0 5 0 2 3 10
SNPedia 0 21 0 8 0 0 1 9
Johns Hopkins Genomics,Johns Hopkins University 0 13 0 6 1 0 2 9
Department of Laboratory Medicine and Genetics,Trillium Health Partners Credit Valley Hospital 0 4 0 5 1 0 2 8
Hereditary Cancer Genetics group,Vall d'Hebron Institute of Oncology 0 4 0 7 1 0 0 8
Claritas Genomics 0 11 0 6 0 0 1 7
Martin Pollak Laboratory, Beth Israel Deaconess Medical Center 0 0 1 0 6 0 0 7
Department of Ophthalmology and Visual Sciences Kyoto University 0 2 2 1 1 0 3 7
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 6 0 4 0 0 3 7
Laboratory of Molecular Diagnosis of Cancer,West China Hospital, Sichuan University 0 14 0 1 6 0 0 7
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova 0 9 0 5 0 0 2 7
SingHealth Duke-NUS Institute of Precision Medicine 0 12 0 3 0 0 4 7
ClinGen TP53 Variant Curation Expert Panel,ClinGen 0 4 0 3 4 0 0 7
Academic Department of Medical Genetics, University of Cambridge 0 10 0 4 0 0 2 6
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 3 0 0 4 6
Hereditary Research Laboratory,Bethlehem University 0 0 0 5 0 0 1 6
Department of Medical Genetics,University Hospital of North Norway 0 7 0 5 1 0 0 6
Center of Medical Genetics and Primary Health Care 0 9 0 2 0 2 2 6
Yale Center for Mendelian Genomics,Yale University 0 2 0 6 0 0 0 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 8 0 5 0 0 2 6
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 21 0 5 1 0 0 6
Laboratory of Medical Genetics, INSERM 0 4 0 4 0 0 2 6
Division Human Genetics,Medical University Innsbruck 0 14 0 5 0 0 0 5
UW Hindbrain Malformation Research Program,University of Washington 0 1 0 3 0 0 2 5
Human Genetics - Radboudumc,Radboudumc 0 18 0 3 0 0 2 5
Inherited Neuropathy Consortium 0 0 0 0 0 0 5 5
Clinical Genomics Lab,St. Jude Children's Research Hospital 0 39 0 2 2 0 1 5
Inserm U 954, Faculté de Médecine de Nancy 0 1 4 0 0 0 0 4
National Center for Biotechnology Information, National Institutes of Health 0 0 0 4 0 0 0 4
Alexion Pharmaceuticals, Inc 0 0 0 0 0 0 4 4
Division of Hearing and Balance Research,National Hospital Organization Tokyo Medical Center 0 8 0 4 0 0 0 4
Dan Cohn Lab,University Of California Los Angeles 0 4 0 2 0 0 2 4
3DMed Clinical Laboratory Inc 0 26 0 1 3 0 0 4
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 2 0 2 0 0 1 3
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 90 0 0 0 0 3 3
Shanghain Institute for Pediatric Research 0 0 0 3 0 0 0 3
PALB2 database 0 6 0 0 2 0 1 3
UCLA Clinical Genomics Center, UCLA 0 2 0 3 0 0 0 3
University Children's Hospital, University of Zurich 0 3 0 3 0 0 0 3
University of Washington Center for Mendelian Genomics,University of Washington 0 1 0 1 0 0 2 3
Genetic Predisposition to Colorectal Cancer Group,Institut d’Investigacions Biomediques August Pi i Sunyer 0 0 0 1 0 0 2 3
Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc. 0 0 0 0 2 0 1 3
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 1 0 1 0 1 1 3
Personalized Diabetes Medicine Program,University of Maryland School of Medicine 0 3 0 0 2 0 1 3
Section on Medical Neuroendocrinolgy,National Institutes of Health 0 1 0 2 0 0 1 3
ClinGen PTEN Variant Curation Expert Panel 0 15 0 1 2 0 0 3
Genetic Diseases Diagnostic Center,Koc University Hospital 0 0 0 2 0 0 2 3
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 4 0 2 0 0 0 2
Counsyl 20564 373 0 0 1 0 1 2
Endocrinology Clinic, Seth G.S. Medical College 0 0 0 1 0 0 1 2
Systems Biology Platform Zhejiang California International NanoSystems Institute 0 0 0 0 0 2 0 2
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 0 0 0 2 0 0 0 2
Center for Genetic Medicine Research,Children's National Medical Center 0 2 0 1 0 0 1 2
Genologica Medica 0 24 0 2 0 0 0 2
Dobyns Lab,Seattle Children's Research Institute 0 1 0 1 0 0 1 2
Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health 0 0 0 1 0 0 1 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 2 0 1 0 0 1 2
Genome Sciences Centre,British Columbia Cancer Agency 0 3 0 2 0 0 1 2
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 3 0 1 0 0 1 2
Dr. Peter K. Rogan Lab,Western University 0 2 0 1 0 0 1 2
Genetic Diagnostic Laboratory,University of Szeged 0 0 0 1 0 0 1 2
Laboratory of Prof. Karen Avraham,Tel Aviv University 0 2 0 2 0 0 0 2
Leeds Amelogenesis Imperfecta Research Group, University of Leeds 0 1 0 0 0 0 2 2
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 4 0 1 0 0 1 2
Institut Pasteur du Maroc 0 1 0 2 0 0 0 2
Institute of Human Genetics,University of Wuerzburg 0 2 0 1 0 0 1 2
Undiagnosed Diseases Network,NIH 0 5 0 2 0 0 1 2
Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde 0 0 0 0 1 0 1 2
Laboratoire de Biologie et Génétique du Cancer,Centre François Baclesse 0 1 0 1 0 0 1 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 4 0 2 1 0 1 2
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 9 0 2 0 0 0 2
Yang An-Suei Laboratory,Academia Sinica 0 0 0 1 0 0 1 2
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 0 2 0 0 0 2
Neurometabolisches Labor,University hospital Tuebingen 0 0 0 1 0 0 1 2
Human Genomics Unit,Institute for molecular medicine Finland (FIMM) 0 0 0 0 1 0 1 2
Translational Research Program on Neuronal Ceroid Lipofuscinosis,Center for the Study of Inborn Errors of Metabolism 0 0 0 1 0 0 1 2
Pediatric Immunology Service,The Chaim Sheba Medical Center at Tel HaShomer 0 0 0 1 1 0 0 2
GeneID Lab - Advanced Molecular Diagnostics 0 3 0 0 0 0 2 2
Clinical Cancer Genetics and Family Consultants,Athens Medical Center 0 0 0 0 0 0 2 2
Genomic Medicine Lab, University of California San Francisco 0 0 0 2 0 0 0 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 0 5 0 2 0 0 0 2
Biochemistry Laboratory of CDMU,Chengde Medical University 0 3 0 2 0 0 1 2
Belal Azab Laboratory,The University of Jordan 0 0 0 2 0 0 0 2
Collagen Diagnostic Laboratory,University of Washington 0 0 0 0 0 0 1 1
Molecular Genetics Diagnostic Laboratory,Detroit Medical Center University Laboratories 0 0 0 0 0 0 1 1
HFI Laboratory at Boston University,Boston University 0 3 0 1 0 0 0 1
Elsea Laboratory,Baylor College of Medicine 0 0 0 0 0 0 1 1
FirmaLab 0 2 0 1 0 0 0 1
Genetics - Viapath,Viapath, Guy's Hospital 0 0 0 0 0 0 1 1
Molecular Diagnostics Laboratory,Seoul National University Hospital 0 2 0 1 0 0 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 0 16 0 1 0 0 0 1
Columbia University Laboratory of Personalized Genomic Medicine,Columbia University Medical Center 0 0 0 0 0 0 1 1
Sema4, Sema4 0 1 0 1 0 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 0 0 1
Strand Center for Genomics and Personalized Medicine,Strand Life Sciences Pvt Ltd 0 0 0 1 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 0 1
PXE International 0 0 0 0 0 0 1 1
Institute of Otorhinolaryngology, The First affiliated hospital,Sun Yat-sen University 0 0 0 0 0 0 1 1
Department of Psychiatry,Nagoya University 0 0 0 1 0 0 1 1
Molecular Genetics Laboratory; Baylor College of Medicine 0 0 0 0 0 0 1 1
Laboratory of Cell Biology, Institute of Biomedical Sciences Abel Salazar (ICBAS) 0 0 0 0 1 0 0 1
Shaikh Laboratory, University of Colorado 0 0 0 1 0 0 1 1
Centre de Biotechnologie de Sfax,Université de Sfax 0 0 0 1 0 0 0 1
University of British Columbia 0 0 0 1 0 0 1 1
Department of Molecular Endocrinology,National Research Institute for Child Health and Development 0 0 0 0 0 0 1 1
Center for Medical Genetics Ghent,University of Ghent 0 0 0 1 0 0 1 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 0 0 1 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 0 0 0 0 0 0 1 1
Institute of Pediatric Research,Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine 0 0 0 0 0 0 1 1
Innovations Lab, Hyderabad,Tata Consultancy Services Ltd 0 0 0 1 0 0 0 1
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics 0 0 0 0 0 1 0 1
Section on Endocrinology and Genetics,National Institutes of Health / The Eunice Kennedy Shriver National Institute of Child Health and Human Development 0 0 0 1 0 0 0 1
Science and Research Branch, Islamic Azad University,Islamic Azad University 0 0 0 0 0 0 1 1
National Institute of Mental Health and Neurosciences 0 1 0 1 0 0 0 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 0 0 1 1
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 4 0 0 1 0 0 1
Lyon Laboratory, Cold Spring Harbor Laboratory 0 0 0 0 0 0 1 1
Centre of Medical Genetics, University of Antwerp 0 0 0 0 0 0 1 1
Foundation Medicine, Inc. 0 0 0 0 1 0 0 1
FRIGE's Institute of Human Genetics 0 0 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 3 0 1 0 0 0 1
Department of Clinical Genetics,Tartu University Hospital 0 0 0 0 0 0 1 1
Laboratorio de Medicina Genomica, Hospital General de Culiacan 0 1 0 1 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 0 0 1 0 0 0 1
Molecular Oncology Laboratory,Centre Jean Perrin 0 0 0 0 0 1 0 1
Centre for Genomic and Experimental Medicine,University of Edinburgh 0 0 0 1 0 0 0 1
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust 0 0 0 0 0 0 1 1
Prof. Thelma's Laboratory, Department of Genetics,University of Delhi South Campus 0 0 0 1 0 0 1 1
Ludwig Lab, Institute of Human Genetics, University Hospital Bonn 0 0 0 1 0 0 1 1
HerediLab, Inc. 0 1 0 1 0 0 0 1
National Institute on Deafness and Communication Disorders,National Institutes of Health 0 0 0 0 0 0 1 1
Laboratory of Genetics, AOUP,Azienda Ospedaliera Universitaria Pisana 0 0 0 0 0 0 1 1
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo 0 0 0 1 0 0 1 1
Department of Pediatrics and Neonatology,Nagoya City University Graduate School of Medical Sciences 0 0 0 0 0 0 1 1
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille 0 0 0 1 0 0 0 1
Bioinformatics dept.,Datar Cancer Genetics Limited, India 0 8 0 1 0 0 0 1
Geschwind lab,University of California Los Angeles 0 0 0 1 0 1 1 1
Department of Medical Biochemistry and Genetics,University of Turku 0 0 0 1 0 0 1 1
IUMS Hospital Medical Genetics Lab,Iran University of Medical Sciences (IUMS) 0 0 0 1 0 0 0 1
Center for Statistical Genetics, Columbia University 0 2 0 1 0 0 0 1
Shendure Lab,University of Washington 0 0 0 1 0 0 0 1
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 0 0 0 0 0 1 1
GenePathDx,Causeway Health Care Private Ltd 0 5 0 0 0 0 1 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 0 0 0 1 1
GENETICS INSTITUTE,National university of Colombia 0 0 0 1 0 0 0 1
Zuffardi lab,University of Pavia 0 0 0 0 0 0 1 1
Pediatric Highly Intensive Care Unit,Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 0 0 0 0 0 0 1 1
Robarts Research Institute,Western University 0 0 0 1 0 0 1 1
Daryl Scott Lab,Baylor College of Medicine 0 0 0 0 0 0 1 1
Neurogenetics Laboratory - MEYER,AOU Meyer 0 0 0 0 0 0 1 1
Clinical Molecular and Personalized Diagnostics,Institute of Biochemistry and Clinical Biochemistry, Teaching and Research Hospital Agostino Gemelli Foundation 0 0 0 1 0 0 0 1
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 0 2 0 0 0 0 1 1
Tim Yu lab,Boston Children's Hospital 0 0 0 0 0 0 1 1
Endocrine oncology group,Uppsala University 0 0 0 1 0 0 0 1
Medical Genetics Laboratory,Aldo Moro University of Bari 0 0 0 0 0 0 1 1
Ege University Pediatric Genetics,Ege University 0 0 0 0 0 0 1 1
Herman Laboratory,Nationwide Children's Hospital 0 2 0 0 0 0 1 1
Department of Medical Sciences,Uppsala University 0 0 0 0 0 0 1 1
Department of Obstetrics and Gynecology,Helsinki University Hospital 0 0 0 1 0 0 1 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 1 0 1 1 0 1 1
AlTemaimi Lab, Faculty of Medicine,Kuwait University 0 0 0 0 0 0 1 1
Snyder Lab, Genetics Department,Stanford University 0 3 0 0 0 1 0 1
Institute of Cellular and Molecular Medicine,Copenhagen University 0 0 0 1 0 0 1 1
Flegel Lab,National Institutes of Health 0 0 0 0 0 0 1 1
Rizzo Lab,University of Nebraska Medical Center 0 0 0 1 0 0 0 1
Biologia e Medicina Molecolare, Sapienza University of Rome 0 0 0 0 0 0 1 1
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 0 0 0 1 0 1 1
Molecular Genetics Laboratory,State University of Campinas 0 0 0 1 0 0 1 1
MAGI'S LAB - Medical Genetics Laboratory,MAGI GROUP 0 1 0 1 0 0 0 1
Emory University School of Medicine, Department of Human Genetics,Emory University 0 0 0 0 0 0 1 1
Clinical genetics,CHU Grenoble-Alpes 0 0 0 0 0 0 1 1
Children's Hospital of Soochow University,Soochow University 0 0 0 1 0 0 0 1
Department of Pathology and Genetics,University of Gothenburg 0 0 0 1 0 0 1 1
Reproductive Development, Murdoch Childrens Research Institute 0 1 0 0 0 0 1 1
Laboratory of Molecular Neuropathology,The University of Texas Health Science Center at Houston 0 0 0 0 0 0 1 1
Dept. of Medical Genetics, Telemark Hospital Trust 0 0 0 1 0 0 1 1
Laboratoire de Genetique Moleculaire,Centre Hospitalier Universitaire de Bordeaux 0 0 0 0 0 0 1 1
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 0 0 0 1 0 0 1 1
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano 0 0 0 0 1 0 1 1
Tehran Medical Genetics Laboratory 0 1 0 1 0 0 0 1
Cancer Diagnostics Division,Gene Solutions 0 0 0 1 0 0 0 1
Raymond Lab,University of Cambridge 0 0 0 0 0 0 1 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 4 0 1 0 0 0 1
Renal Department,Renmin Hospital of Wuhan University 0 0 0 1 0 0 0 1
Lab. Molecular Oncology,VUB, Free University of Brussels 0 0 0 0 1 0 0 1
Research and Development,Genoox 0 0 0 1 0 0 0 1
Department of Biotechnology and Microbiology,Karnatak University Dharwad 0 0 0 0 0 0 1 1
Michaelson Lab,University of Iowa 0 0 0 0 0 0 1 1
Mayo Clinic Genomics Laboratory,Mayo Clinic 0 0 0 0 0 0 1 1
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 0 4 0 0 0 0 1 1
Molecular Pathology Diagnostics Labratory,University of Iowa Hospitals & Clinics 0 0 0 1 0 0 1 1
Inherited Eye Disorders lab,UCL Institute of Ophthalmology 0 0 0 0 0 0 1 1
Center for Reproductive Medicine,Shandong Provincial Hospital Affiliated to Shandong University 0 0 0 1 0 0 0 1
Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile 0 1 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 0 0 1 0 0 0 1
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 0 0 1 0 0 0 1
Molecular Genetics Laboratory, Faculty of Medicine Siriraj Hospital,Mahidol University 0 0 0 1 0 0 0 1
Clinical Genetics Research Group,Karolinska Institutet 0 0 0 0 0 0 1 1
Laboratory for Population and Evolutionary Genetics,University of Puerto Rico at Mayaguez 0 0 0 1 0 0 0 1
Genomic Diagnostics Laboratory, National Institute of Medical Genomics 0 0 0 0 0 0 1 1
UT Southwestern Medical Center, UT Southwestern Medical Center 0 0 0 0 0 1 0 1
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire,Universite Libre de Bruxelles 0 0 0 1 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 0 0 0 0 0 1 1
Center for Computational Genomics and Data Science,University of Alabama 0 0 0 0 0 1 0 1
Medical Genetics Laboratory,West China Hospital, Sichuan University 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 6338
Download table as spreadsheet
HGVS dbSNP
NC_000015.9:g.68504037_68504039delGAT rs121908080
NM_000016.5(ACADM):c.1045C>T (p.Arg349Ter) rs148207467
NM_000016.5(ACADM):c.1114dup (p.Ala372fs) rs1057516278
NM_000016.5(ACADM):c.118+18T>A rs755405418
NM_000016.5(ACADM):c.1247T>C (p.Ile416Thr) rs760892123
NM_000016.5(ACADM):c.1257C>A (p.Tyr419Ter) rs753928772
NM_000016.5(ACADM):c.134A>G (p.Gln45Arg) rs757434857
NM_000016.5(ACADM):c.157C>T (p.Arg53Cys) rs398123072
NM_000016.5(ACADM):c.177A>C (p.Glu59Asp) rs1057520214
NM_000016.5(ACADM):c.199T>C (p.Tyr67His) rs121434280
NM_000016.5(ACADM):c.250C>T (p.Leu84Phe) rs762114560
NM_000016.5(ACADM):c.320T>C (p.Leu107Ser) rs746136472
NM_000016.5(ACADM):c.347G>A (p.Cys116Tyr) rs875989859
NM_000016.5(ACADM):c.351A>C (p.Thr117=) rs74090726
NM_000016.5(ACADM):c.387+1del rs786204424
NM_000016.5(ACADM):c.388-3T>G rs764942250
NM_000016.5(ACADM):c.388-5G>A rs759254037
NM_000016.5(ACADM):c.395C>G (p.Pro132Arg) rs875989854
NM_000016.5(ACADM):c.443G>A (p.Arg148Lys) rs778906552
NM_000016.5(ACADM):c.447G>T (p.Met149Ile) rs121434277
NM_000016.5(ACADM):c.503A>C (p.Asp168Ala) rs745844469
NM_000016.5(ACADM):c.558T>A (p.Asn186Lys) rs754359356
NM_000016.5(ACADM):c.580A>G (p.Asn194Asp) rs773677327
NM_000016.5(ACADM):c.583G>A (p.Gly195Arg) rs121434278
NM_000016.5(ACADM):c.599+2T>C rs148260275
NM_000016.5(ACADM):c.600-18G>A rs370523609
NM_000016.5(ACADM):c.616C>T (p.Arg206Cys) rs373715782
NM_000016.5(ACADM):c.617G>A (p.Arg206His) rs200724875
NM_000016.5(ACADM):c.624T>C (p.Asp208=) rs886046523
NM_000016.5(ACADM):c.698T>C (p.Ile233Thr) rs770273135
NM_000016.5(ACADM):c.734C>T (p.Ser245Leu) rs121434281
NM_000016.5(ACADM):c.757G>A (p.Glu253Lys) rs768884003
NM_000016.5(ACADM):c.799G>A (p.Gly267Arg) rs121434274
NM_000016.5(ACADM):c.817_829del (p.Ala273fs) rs875989872
NM_000016.5(ACADM):c.843A>T (p.Arg281Ser) rs780504551
NM_000016.5(ACADM):c.926dup (p.Gly310fs) rs875989864
NM_000016.5(ACADM):c.984del (p.Met328fs) rs747610156
NM_000016.5(ACADM):c.985A>G (p.Lys329Glu) rs77931234
NM_000016.5(ACADM):c.999_1011dup (p.Gln338Ter) rs1225471006
NM_000017.4(ACADS):c.1031A>G (p.Glu344Gly) rs387906950
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu) rs28941773
NM_000017.4(ACADS):c.1095G>T (p.Gln365His) rs368469075
NM_000017.4(ACADS):c.1112G>T (p.Gly371Val) rs796051905
NM_000017.4(ACADS):c.1147C>T (p.Arg383Cys) rs28940872
NM_000017.4(ACADS):c.1153G>T (p.Ala385Ser) rs202124189
NM_000017.4(ACADS):c.1156C>T (p.Arg386Cys) rs537072819
NM_000017.4(ACADS):c.1192C>T (p.Gln398Ter) rs767774362
NM_000017.4(ACADS):c.136C>T (p.Arg46Trp) rs121908003
NM_000017.4(ACADS):c.164C>T (p.Pro55Leu) rs147442301
NM_000017.4(ACADS):c.307_309GAG[1] (p.Glu104del) rs387906308
NM_000017.4(ACADS):c.319C>T (p.Arg107Cys) rs61732144
NM_000017.4(ACADS):c.323G>A (p.Gly108Asp) rs387906951
NM_000017.4(ACADS):c.328G>A (p.Ala110Thr) rs780571371
NM_000017.4(ACADS):c.369C>G (p.Tyr123Ter) rs749491616
NM_000017.4(ACADS):c.529T>C (p.Trp177Arg) rs57443665
NM_000017.4(ACADS):c.682_683del (p.Glu228fs) rs786204691
NM_000017.4(ACADS):c.814C>T (p.Arg272Cys) rs539219309
NM_000017.4(ACADS):c.815G>A (p.Arg272His) rs374726386
NM_000017.4(ACADS):c.820G>A (p.Gly274Ser) rs746368198
NM_000017.4(ACADS):c.910dup (p.Leu304fs) rs1057516606
NM_000017.4(ACADS):c.974G>A (p.Arg325Gln) rs932525260
NM_000017.4(ACADS):c.988C>T (p.Arg330Cys) rs140853839
NM_000017.4(ACADS):c.988_990delinsTGT (p.Arg330Cys) rs796051906
NM_000017.4(ACADS):c.989_990delinsAT (p.Arg330His) rs1555244280
NM_000018.2(ACADVL):c.343delG (p.Glu115Lysfs) rs387906249
NM_000018.4(ACADVL):c.1019G>T (p.Gly340Val) rs934797393
NM_000018.4(ACADVL):c.105_109dup (p.Arg37fs) rs1555527532
NM_000018.4(ACADVL):c.1066A>G (p.Ile356Val) rs150140386
NM_000018.4(ACADVL):c.1077+1G>A rs140989450
NM_000018.4(ACADVL):c.1077_1077+1delinsCAC rs1057516686
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys) rs771874163
NM_000018.4(ACADVL):c.1097G>A (p.Arg366His) rs112406105
NM_000018.4(ACADVL):c.1103A>C (p.Gln368Pro) rs776063244
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp) rs745832866
NM_000018.4(ACADVL):c.1182+1G>A rs113690956
NM_000018.4(ACADVL):c.1183-15A>G rs765390290
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr) rs138834083
NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp) rs2309689
NM_000018.4(ACADVL):c.1328T>G (p.Met443Arg) rs886043236
NM_000018.4(ACADVL):c.1357C>T (p.Arg453Ter) rs794727113
NM_000018.4(ACADVL):c.1367G>A (p.Arg456His) rs794727112
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln) rs751995154
NM_000018.4(ACADVL):c.138+2dup rs1555527548
NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp) rs113994170
NM_000018.4(ACADVL):c.1406G>A (p.Arg469Gln) rs398123083
NM_000018.4(ACADVL):c.1434+14T>A rs202217537
NM_000018.4(ACADVL):c.1468G>C (p.Ala490Pro) rs759775666
NM_000018.4(ACADVL):c.1532G>A (p.Arg511Gln) rs200771970
NM_000018.4(ACADVL):c.1533-4T>A rs369986567
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp) rs146379816
NM_000018.4(ACADVL):c.1678+23C>T rs147546456
NM_000018.4(ACADVL):c.1679-6G>A rs113994171
NM_000018.4(ACADVL):c.1748C>G (p.Ser583Trp) rs1085307648
NM_000018.4(ACADVL):c.1766_1769TGAG[1] (p.Ser590fs) rs1555529048
NM_000018.4(ACADVL):c.1804_1805CT[1] (p.Leu602_Cys603insTer) rs796051917
NM_000018.4(ACADVL):c.1828-4C>G rs184559206
NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp) rs118204014
NM_000018.4(ACADVL):c.1894C>T (p.Arg632Cys) rs151254520
NM_000018.4(ACADVL):c.266del (p.Pro89fs) rs771808680
NM_000018.4(ACADVL):c.277+2T>G rs1555527745
NM_000018.4(ACADVL):c.296_297CA[1] (p.Gln100fs) rs786204713
NM_000018.4(ACADVL):c.385_387GAG[1] (p.Glu130del) rs387906251
NM_000018.4(ACADVL):c.428_467del (p.Gly143fs) rs758144859
NM_000018.4(ACADVL):c.482C>T (p.Ala161Val) rs796051908
NM_000018.4(ACADVL):c.520G>A (p.Val174Met) rs369560930
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr) rs727503791
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser) rs545215807
NM_000018.4(ACADVL):c.578G>A (p.Gly193Asp) rs1220348903
NM_000018.4(ACADVL):c.62+6T>C rs1555527495
NM_000018.4(ACADVL):c.644_647del (p.Phe214_Cys215insTer) rs1057516714
NM_000018.4(ACADVL):c.664G>A (p.Gly222Arg) rs398123091
NM_000018.4(ACADVL):c.685C>T (p.Arg229Ter) rs786204536
NM_000018.4(ACADVL):c.779C>T (p.Thr260Met) rs113994168
NM_000018.4(ACADVL):c.799_802del (p.Val267fs) rs761204548
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala) rs113994167
NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg) rs200788251
NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu) rs200573371
NM_000018.4(ACADVL):c.887_888del (p.Pro296fs) rs753108198
NM_000018.4(ACADVL):c.890_892AGA[2] (p.Lys299del) rs387906252
NM_000018.4(ACADVL):c.996dup (p.Ala333fs) rs1057516843
NM_000022.2(ADA):c.986C>T rs121908715
NM_000022.4(ADA):c.219-2A>G rs387906267
NM_000022.4(ADA):c.301C>T (p.Arg101Trp) rs121908717
NM_000022.4(ADA):c.320T>C (p.Leu107Pro) rs121908739
NM_000022.4(ADA):c.43C>G (p.His15Asp) rs121908725
NM_000022.4(ADA):c.446G>A (p.Arg149Gln) rs121908737
NM_000022.4(ADA):c.454C>A (p.Leu152Met) rs121908728
NM_000022.4(ADA):c.466C>T (p.Arg156Cys) rs121908735
NM_000022.4(ADA):c.467G>A (p.Arg156His) rs121908722
NM_000022.4(ADA):c.529G>A (p.Val177Met) rs121908719
NM_000022.4(ADA):c.58G>A (p.Gly20Arg) rs121908724
NM_000022.4(ADA):c.631C>T (p.Arg211Cys) rs121908740
NM_000022.4(ADA):c.632G>A (p.Arg211His) rs121908716
NM_000022.4(ADA):c.643G>A (p.Ala215Thr) rs114025668
NM_000022.4(ADA):c.703C>T (p.Arg235Trp) rs778809577
NM_000022.4(ADA):c.704G>A (p.Arg235Gln) rs79281338
NM_000022.4(ADA):c.821C>T (p.Pro274Leu) rs121908738
NM_000022.4(ADA):c.845G>A (p.Arg282Gln) rs751635016
NM_000022.4(ADA):c.872C>T (p.Ser291Leu) rs121908721
NM_000022.4(ADA):c.956_960del (p.Glu319fs) rs771266745
NM_000023.4(SGCA):c.279_284del (p.Thr94_Pro95del) rs1555568383
NM_000023.4(SGCA):c.292C>T (p.Arg98Cys) rs138945081
NM_000023.4(SGCA):c.293G>A (p.Arg98His) rs137852621
NM_000023.4(SGCA):c.307A>G (p.Ile103Val) rs370819630
NM_000023.4(SGCA):c.371T>C (p.Ile124Thr) rs768814872
NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter) rs780264754
NM_000023.4(SGCA):c.403C>T (p.Gln135Ter) rs886043221
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys) rs372210292
NM_000023.4(SGCA):c.489del (p.Leu164fs) rs753650776
NM_000023.4(SGCA):c.541C>A (p.Arg181Ser) rs574376340
NM_000023.4(SGCA):c.614C>A (p.Pro205His) rs757481230
NM_000023.4(SGCA):c.614C>T (p.Pro205Leu) rs757481230
NM_000023.4(SGCA):c.662G>A (p.Arg221His) rs138254713
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys) rs137852623
NM_000023.4(SGCA):c.92T>C (p.Leu31Pro) rs903823830
NM_000027.4(AGA):c.179G>A (p.Gly60Asp) rs121964907
NM_000027.4(AGA):c.194_195AG[3] (p.Glu67fs) rs386833420
NM_000027.4(AGA):c.299G>A (p.Gly100Glu) rs386833421
NM_000027.4(AGA):c.302C>T (p.Ala101Val) rs121964908
NM_000027.4(AGA):c.319C>T (p.Arg107Ter) rs765070743
NM_000027.4(AGA):c.367_368AC[3] (p.Thr125fs) rs386833425
NM_000027.4(AGA):c.473G>A (p.Trp158Ter) rs745976989
NM_000027.4(AGA):c.488G>C (p.Cys163Ser) rs121964904
NM_000027.4(AGA):c.503G>A (p.Trp168Ter) rs386833430
NM_000027.4(AGA):c.537C>A (p.Cys179Ter) rs748171793
NM_000027.4(AGA):c.677G>A (p.Gly226Asp) rs386833431
NM_000027.4(AGA):c.698+1G>T rs1057517175
NM_000027.4(AGA):c.800dup (p.Pro268fs) rs386833436
NM_000027.4(AGA):c.940+1G>T rs386833437
NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp) rs180177156
NM_000030.3(AGXT):c.106C>T (p.Arg36Cys) rs180177157
NM_000030.3(AGXT):c.1079G>A (p.Arg360Gln) rs180177161
NM_000030.3(AGXT):c.116_117dup (p.Ala40fs) rs180177166
NM_000030.3(AGXT):c.122G>T (p.Gly41Val) rs180177168
NM_000030.3(AGXT):c.130C>T (p.Gln44Ter) rs180177172
NM_000030.3(AGXT):c.145A>C (p.Met49Leu) rs74205173
NM_000030.3(AGXT):c.165+40A>C rs57017537
NM_000030.3(AGXT):c.221_227dup (p.Val77fs) rs180177183
NM_000030.3(AGXT):c.245G>A (p.Gly82Glu) rs121908522
NM_000030.3(AGXT):c.2T>C (p.Met1Thr) rs138584408
NM_000030.3(AGXT):c.302T>C (p.Leu101Pro) rs180177195
NM_000030.3(AGXT):c.322T>C (p.Trp108Arg) rs180177197
NM_000030.3(AGXT):c.33del (p.Lys12fs) rs180177201
NM_000030.3(AGXT):c.346G>A (p.Gly116Arg) rs180177207
NM_000030.3(AGXT):c.473C>T (p.Ser158Leu) rs180177225
NM_000030.3(AGXT):c.481G>T (p.Gly161Cys) rs180177227
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529
NM_000030.3(AGXT):c.533G>A (p.Cys178Tyr) rs180177235
NM_000030.3(AGXT):c.560C>T (p.Ser187Phe) rs180177238
NM_000030.3(AGXT):c.568G>A (p.Gly190Arg) rs180177239
NM_000030.3(AGXT):c.577del (p.Leu193fs) rs180177241
NM_000030.3(AGXT):c.653C>T (p.Ser218Leu) rs180177253
NM_000030.3(AGXT):c.697C>T (p.Arg233Cys) rs121908526
NM_000030.3(AGXT):c.698G>A (p.Arg233His) rs121908527
NM_000030.3(AGXT):c.731T>C (p.Ile244Thr) rs121908525
NM_000030.3(AGXT):c.737G>A (p.Trp246Ter) rs180177259
NM_000030.3(AGXT):c.777-1G>C rs180177267
NM_000030.3(AGXT):c.847-1G>C rs180177285
NM_000030.3(AGXT):c.866G>A (p.Arg289His) rs61729604
NM_000030.3(AGXT):c.891T>G (p.Tyr297Ter) rs180177292
NM_000030.3(AGXT):c.907C>T (p.Gln303Ter) rs180177294
NM_000030.3(AGXT):c.942+14T>G rs886055843
NM_000030.3(AGXT):c.943-1G>T rs180177298
NM_000030.3(AGXT):c.976del (p.Val326fs) rs180177301
NM_000030.3(AGXT):c.996G>A (p.Trp332Ter) rs796052064
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His) rs886044777
NM_000035.4(ALDOB):c.-11+1G>C rs181639417
NM_000035.4(ALDOB):c.1005C>G (p.Asn335Lys) rs78340951
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val) rs77718928
NM_000035.4(ALDOB):c.1027T>C (p.Tyr343His) rs369586696
NM_000035.4(ALDOB):c.10C>T (p.Arg4Ter) rs118204428
NM_000035.4(ALDOB):c.113-1_115del rs786204598
NM_000035.4(ALDOB):c.136A>T (p.Arg46Trp) rs41281039
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter) rs118204429
NM_000035.4(ALDOB):c.264C>A (p.Asp88Glu) rs200585150
NM_000035.4(ALDOB):c.324+2T>A rs1057516379
NM_000035.4(ALDOB):c.356_359CAAA[1] (p.Asn120fs) rs387906225
NM_000035.4(ALDOB):c.375T>C (p.Ile125=) rs886063292
NM_000035.4(ALDOB):c.612T>A (p.Tyr204Ter) rs370793608
NM_000038.5(APC):c.-30097G>A rs367773779
NM_000038.5(APC):c.-30105C>T rs1057517584
NM_000038.5(APC):c.-30179T>C rs980704771
NM_000038.6(APC):c.*248A>G rs186777258
NM_000038.6(APC):c.1121G>A (p.Arg374Gln) rs141582813
NM_000038.6(APC):c.1240C>T (p.Arg414Cys) rs137854567
NM_000038.6(APC):c.1312+3A>G rs863225311
NM_000038.6(APC):c.1419G>A (p.Gln473=) rs141579422
NM_000038.6(APC):c.1495C>G (p.Arg499Gly) rs137854580
NM_000038.6(APC):c.1548+17T>C rs367690523
NM_000038.6(APC):c.1635G>A (p.Ala545=) rs351771
NM_000038.6(APC):c.1686G>A (p.Thr562=) rs770256026
NM_000038.6(APC):c.1705del (p.Ser568_Val569insTer) rs1554082135
NM_000038.6(APC):c.1825G>A (p.Val609Ile) rs147863331
NM_000038.6(APC):c.1958+10G>T rs375175370
NM_000038.6(APC):c.2105G>A (p.Gly702Glu) rs876658289
NM_000038.6(APC):c.2205G>A (p.Ala735=) rs141001261
NM_000038.6(APC):c.2222A>G (p.Asn741Ser) rs150209825
NM_000038.6(APC):c.2232T>G (p.Ser744=) rs145751759
NM_000038.6(APC):c.2262T>G (p.Val754=) rs148987776
NM_000038.6(APC):c.2297C>T (p.Ala766Val) rs200339830
NM_000038.6(APC):c.2322C>T (p.Asp774=) rs145792879
NM_000038.6(APC):c.2385C>T (p.Leu795=) rs80188155
NM_000038.6(APC):c.2444A>C (p.Asn815Thr) rs762990578
NM_000038.6(APC):c.2586C>G (p.Asn862Lys) rs147972247
NM_000038.6(APC):c.2593C>T (p.Pro865Ser) rs192620988
NM_000038.6(APC):c.2608C>T (p.Pro870Ser) rs33974176
NM_000038.6(APC):c.2627G>A (p.Arg876Gln) rs373428732
NM_000038.6(APC):c.2658G>T (p.Gln886His) rs587780593
NM_000038.6(APC):c.2677G>A (p.Glu893Lys) rs199740875
NM_000038.6(APC):c.277C>G (p.Leu93Val) rs201567345
NM_000038.6(APC):c.2804dup (p.Tyr935Ter) rs863225332
NM_000038.6(APC):c.2838A>G (p.Thr946=) rs142835322
NM_000038.6(APC):c.2847G>T (p.Met949Ile) rs147394539
NM_000038.6(APC):c.295C>T (p.Arg99Trp) rs139196838
NM_000038.6(APC):c.3006C>T (p.Ala1002=) rs72541810
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly) rs148725540
NM_000038.6(APC):c.317G>A (p.Arg106His) rs201764637
NM_000038.6(APC):c.3245C>G (p.Thr1082Ser) rs730881244
NM_000038.6(APC):c.3374T>C (p.Val1125Ala) rs377278397
NM_000038.6(APC):c.3378C>G (p.Ser1126Arg) rs149353082
NM_000038.6(APC):c.3479C>A (p.Thr1160Lys) rs201004111
NM_000038.6(APC):c.3612A>G (p.Gln1204=) rs864622196
NM_000038.6(APC):c.3625G>A (p.Glu1209Lys) rs201185479
NM_000038.6(APC):c.3632T>G (p.Met1211Arg) rs575268622
NM_000038.6(APC):c.3650A>C (p.Asn1217Thr) rs138933660
NM_000038.6(APC):c.3785dup (p.Tyr1262Ter) rs863225345
NM_000038.6(APC):c.379A>G (p.Ser127Gly) rs200089324
NM_000038.6(APC):c.385G>C (p.Glu129Gln) rs376628500
NM_000038.6(APC):c.3909A>G (p.Gln1303=) rs746289994
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000038.6(APC):c.3922_3926AAAGA[1] (p.Glu1309fs) rs121913224
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166
NM_000038.6(APC):c.4012C>T (p.Gln1338Ter) rs121913327
NM_000038.6(APC):c.4072G>A (p.Ala1358Thr) rs139618756
NM_000038.6(APC):c.420G>C (p.Glu140Asp) rs202161017
NM_000038.6(APC):c.4311A>G (p.Lys1437=) rs371784771
NM_000038.6(APC):c.4333A>G (p.Thr1445Ala) rs587780597
NM_000038.6(APC):c.4372C>T (p.Pro1458Ser) rs143796828
NM_000038.6(APC):c.4376C>G (p.Thr1459Ser) rs756048549
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.476dup (p.Tyr159Ter) rs878853451
NM_000038.6(APC):c.4905G>A (p.Gly1635=) rs137988845
NM_000038.6(APC):c.4919G>A (p.Arg1640Gln) rs529480958
NM_000038.6(APC):c.5009C>T (p.Ala1670Val) rs202228932
NM_000038.6(APC):c.5147A>G (p.Asn1716Ser) rs141298709
NM_000038.6(APC):c.5250C>T (p.Val1750=) rs2229997
NM_000038.6(APC):c.5271T>C (p.Ser1757=) rs752875511
NM_000038.6(APC):c.5274T>A (p.Ser1758=) rs199600387
NM_000038.6(APC):c.531+1G>C rs876659973
NM_000038.6(APC):c.5392A>G (p.Asn1798Asp) rs200794097
NM_000038.6(APC):c.5430T>G (p.Asp1810Glu) rs149828124
NM_000038.6(APC):c.5635G>T (p.Ala1879Ser) rs587779799
NM_000038.6(APC):c.564A>G (p.Gln188=) rs377493489
NM_000038.6(APC):c.5690A>C (p.His1897Pro) rs112610898
NM_000038.6(APC):c.5708A>G (p.Asn1903Ser) rs750404000
NM_000038.6(APC):c.5752A>G (p.Ile1918Val) rs776966222
NM_000038.6(APC):c.5805G>A (p.Gln1935=) rs377040690
NM_000038.6(APC):c.6371T>A (p.Leu2124Ter) rs1057517568
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.6639G>A (p.Met2213Ile) rs35540155
NM_000038.6(APC):c.6669A>G (p.Ser2223=) rs372680843
NM_000038.6(APC):c.6679G>T (p.Gly2227Cys) rs367905430
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.6907G>A (p.Gly2303Arg) rs544549596
NM_000038.6(APC):c.695G>A (p.Arg232Gln) rs201727026
NM_000038.6(APC):c.6965A>G (p.Gln2322Arg) rs1057517549
NM_000038.6(APC):c.70C>T (p.Arg24Ter) rs145945630
NM_000038.6(APC):c.7415C>T (p.Ala2472Val) rs200399245
NM_000038.6(APC):c.7533C>T (p.Leu2511=) rs1057522957
NM_000038.6(APC):c.7543A>G (p.Ile2515Val) rs554356011
NM_000038.6(APC):c.7574G>A (p.Arg2525His) rs762034315
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.7717A>G (p.Ile2573Val) rs145444830
NM_000038.6(APC):c.7786T>G (p.Ser2596Ala) rs138137162
NM_000038.6(APC):c.7821C>T (p.Ser2607=) rs532235331
NM_000038.6(APC):c.7858T>A (p.Phe2620Ile) rs587781816
NM_000038.6(APC):c.7878T>G (p.Thr2626=) rs757020188
NM_000038.6(APC):c.7888G>A (p.Val2630Ile) rs199688874
NM_000038.6(APC):c.7929A>G (p.Leu2643=) rs138796072
NM_000038.6(APC):c.8100T>C (p.Asn2700=) rs761326128
NM_000038.6(APC):c.8146G>A (p.Val2716Met) rs587778044
NM_000038.6(APC):c.8213T>C (p.Ile2738Thr) rs863224552
NM_000038.6(APC):c.8261G>A (p.Ser2754Asn) rs369721828
NM_000038.6(APC):c.8266A>G (p.Ile2756Val) rs146115809
NM_000038.6(APC):c.8325G>A (p.Gly2775=) rs770719841
NM_000038.6(APC):c.8332G>T (p.Ala2778Ser) rs587778046
NM_000038.6(APC):c.835-3T>C rs372090940
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.8416C>G (p.Pro2806Ala) rs587780608
NM_000038.6(APC):c.8429A>G (p.Asn2810Ser) rs758044862
NM_000038.6(APC):c.848G>A (p.Arg283Gln) rs149154604
NM_000045.4(ARG1):c.272dup (p.Arg92fs) rs796051923
NM_000045.4(ARG1):c.703G>A (p.Gly235Arg) rs104893948
NM_000045.4(ARG1):c.871C>T (p.Arg291Ter) rs104893940
NM_000045.4(ARG1):c.892G>C (p.Ala298Pro) rs755359126
NM_000045.4(ARG1):c.923G>A (p.Arg308Gln) rs377280518
NM_000048.4(ASL):c.1026G>C (p.Val342=) rs768461888
NM_000048.4(ASL):c.1045_1057del (p.Val349fs) rs796051933
NM_000048.4(ASL):c.1060C>T (p.Gln354Ter) rs367543005
NM_000048.4(ASL):c.1079T>C (p.Met360Thr) rs875989948
NM_000048.4(ASL):c.1153C>T (p.Arg385Cys) rs28940286
NM_000048.4(ASL):c.1255_1256del (p.Leu419fs) rs757109353
NM_000048.4(ASL):c.280C>T (p.Arg94Cys) rs374304304
NM_000048.4(ASL):c.299T>C (p.Ile100Thr) rs202142867
NM_000048.4(ASL):c.332G>A (p.Arg111Gln) rs561367199
NM_000048.4(ASL):c.337C>T (p.Arg113Trp) rs767543051
NM_000048.4(ASL):c.35G>A (p.Arg12Gln) rs145138923
NM_000048.4(ASL):c.377G>A (p.Arg126Gln) rs777235530
NM_000048.4(ASL):c.545G>A (p.Arg182Gln) rs751590073
NM_000048.4(ASL):c.578G>A (p.Arg193Gln) rs373697663
NM_000048.4(ASL):c.602+1G>A rs398123127
NM_000048.4(ASL):c.718+5G>A rs869312990
NM_000048.4(ASL):c.839G>A (p.Gly280Glu) rs1085307952
NM_000048.4(ASL):c.918+5G>A rs781331391
NM_000049.3(ASPA):c.212G>A (p.Arg71His) rs104894553
NM_000049.3(ASPA):c.237-2A>T rs780936696
NM_000049.3(ASPA):c.427A>G (p.Ile143Val) rs199565861
NM_000049.3(ASPA):c.427A>T (p.Ile143Phe) rs199565861
NM_000049.3(ASPA):c.541C>A (p.Pro181Thr) rs786204572
NM_000049.3(ASPA):c.634+1G>T rs753871454
NM_000049.3(ASPA):c.746A>T (p.Asp249Val) rs104894552
NM_000049.3(ASPA):c.770C>G (p.Pro257Arg) rs377217076
NM_000049.3(ASPA):c.79G>A (p.Gly27Arg) rs766328537
NM_000049.3(ASPA):c.854A>C (p.Glu285Ala) rs28940279
NM_000049.3(ASPA):c.859G>A (p.Ala287Thr) rs774323189
NM_000050.4(ASS1):c.323G>T rs35269064
NM_000050.4(ASS1):c.970+5G>A rs372128852
NM_000051.3(ATM):c.1021G>A (p.Val341Ile) rs200601781
NM_000051.3(ATM):c.1027_1030delGAAA rs587780612
NM_000051.3(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.3(ATM):c.1065+1G>T rs201089102
NM_000051.3(ATM):c.1093G>T (p.Glu365Ter) rs1555069577
NM_000051.3(ATM):c.1120C>T (p.Gln374Ter) rs1185204988
NM_000051.3(ATM):c.1176C>G (p.Gly392=) rs1800727
NM_000051.3(ATM):c.1229T>C (p.Val410Ala) rs56128736
NM_000051.3(ATM):c.1339C>T (p.Arg447Ter) rs587779815
NM_000051.3(ATM):c.1442T>G (p.Leu481Ter) rs1555070980
NM_000051.3(ATM):c.1444A>C (p.Lys482Gln) rs202173660
NM_000051.3(ATM):c.1524del (p.Gly509fs) rs786204737
NM_000051.3(ATM):c.1607+1G>T rs772926890
NM_000051.3(ATM):c.1655del (p.Pro552fs) rs1057516876
NM_000051.3(ATM):c.1703G>T (p.Arg568Ile) rs200381392
NM_000051.3(ATM):c.1754dup (p.Leu585fs) rs1555072012
NM_000051.3(ATM):c.192del (p.Leu64fs) rs878853490
NM_000051.3(ATM):c.1931C>A (p.Ser644Ter) rs768362387
NM_000051.3(ATM):c.1986T>C (p.Phe662=) rs1800055
NM_000051.3(ATM):c.1A>C (p.Met1Leu) rs730881359
NM_000051.3(ATM):c.1A>G (p.Met1Val) rs730881359
NM_000051.3(ATM):c.2023C>T (p.Gln675Ter) rs777849257
NM_000051.3(ATM):c.202A>G (p.Ile68Val) rs35389822
NM_000051.3(ATM):c.2096A>G (p.Glu699Gly) rs147934285
NM_000051.3(ATM):c.2119T>C (p.Ser707Pro) rs4986761
NM_000051.3(ATM):c.2220A>G (p.Ala740=) rs56353517
NM_000051.3(ATM):c.2250G>A (p.Lys750=) rs1137887
NM_000051.3(ATM):c.2251-10T>G rs730881346
NM_000051.3(ATM):c.2295del (p.Asn765fs) rs876658583
NM_000051.3(ATM):c.2362A>C (p.Ser788Arg) rs641252
NM_000051.3(ATM):c.2377_2378dup (p.Ser794fs) rs1057516980
NM_000051.3(ATM):c.2476A>C (p.Ile826Leu) rs587782397
NM_000051.3(ATM):c.2531G>A (p.Gly844Glu) rs587781808
NM_000051.3(ATM):c.2572T>C (p.Phe858Leu) rs1800056
NM_000051.3(ATM):c.2606_2607del (p.Ala869fs) rs1057516944
NM_000051.3(ATM):c.2608A>G (p.Asn870Asp) rs61734354
NM_000051.3(ATM):c.2638+2T>C rs587779826
NM_000051.3(ATM):c.2789T>G (p.Leu930Ter) rs786203309
NM_000051.3(ATM):c.2804C>T (p.Thr935Met) rs3218708
NM_000051.3(ATM):c.2805G>C (p.Thr935=) rs55934812
NM_000051.3(ATM):c.2839-18dup rs730881287
NM_000051.3(ATM):c.2839-579_2839-576del rs587776552
NM_000051.3(ATM):c.2880del (p.Leu961fs) rs730881300
NM_000051.3(ATM):c.2919A>G (p.Leu973=) rs587779829
NM_000051.3(ATM):c.2921+1G>A rs587781558
NM_000051.3(ATM):c.2921+1G>C rs587781558
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.2T>C (p.Met1Thr) rs786203606
NM_000051.3(ATM):c.3024dup (p.Glu1009Ter) rs1555085172
NM_000051.3(ATM):c.3078-1G>A rs750663117
NM_000051.3(ATM):c.3190A>G (p.Met1064Val) rs79431304
NM_000051.3(ATM):c.320G>A (p.Cys107Tyr) rs142358238
NM_000051.3(ATM):c.3292del (p.Gln1098fs) rs1555090075
NM_000051.3(ATM):c.331+1G>A rs1555055356
NM_000051.3(ATM):c.331+5G>A rs752135143
NM_000051.3(ATM):c.3336T>A (p.Pro1112=) rs758784434
NM_000051.3(ATM):c.3352A>G (p.Thr1118Ala) rs572564322
NM_000051.3(ATM):c.3372C>G (p.Tyr1124Ter) rs587779833
NM_000051.3(ATM):c.3378A>G (p.Lys1126=) rs149182949
NM_000051.3(ATM):c.3381_3384del (p.Gln1128fs) rs587781971
NM_000051.3(ATM):c.3383A>G (p.Gln1128Arg) rs2229020
NM_000051.3(ATM):c.3541A>T (p.Lys1181Ter) rs1057516981
NM_000051.3(ATM):c.3577-6G>A rs56006345
NM_000051.3(ATM):c.3577-7C>T rs558667657
NM_000051.3(ATM):c.370A>G (p.Ile124Val) rs148590073
NM_000051.3(ATM):c.3747-10C>G rs775274473
NM_000051.3(ATM):c.3756T>A (p.Tyr1252Ter) rs886039637
NM_000051.3(ATM):c.378del (p.Asp126fs) rs587781449
NM_000051.3(ATM):c.3806A>G (p.Lys1269Arg) rs146017595
NM_000051.3(ATM):c.3880dup (p.Ile1294fs) rs1057516541
NM_000051.3(ATM):c.3935dup (p.Glu1313fs) rs876659672
NM_000051.3(ATM):c.3964C>A (p.Leu1322Ile) rs144535256
NM_000051.3(ATM):c.3993+1G>A rs200196781
NM_000051.3(ATM):c.3G>A (p.Met1Ile) rs781404312
NM_000051.3(ATM):c.4019_4029del (p.Leu1340fs) rs1057517140
NM_000051.3(ATM):c.4106C>A (p.Ser1369Ter) rs1057520640
NM_000051.3(ATM):c.4148C>A (p.Ser1383Ter) rs141087784
NM_000051.3(ATM):c.4279G>A (p.Ala1427Thr) rs2229021
NM_000051.3(ATM):c.4318A>T (p.Lys1440Ter) rs1060501551
NM_000051.3(ATM):c.4370T>G (p.Leu1457Ter) rs373226793
NM_000051.3(ATM):c.4388T>G (p.Phe1463Cys) rs138327406
NM_000051.3(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941
NM_000051.3(ATM):c.4437-1G>C rs759520465
NM_000051.3(ATM):c.4437-7A>G rs370354306
NM_000051.3(ATM):c.4451del (p.Met1484fs) rs1555099760
NM_000051.3(ATM):c.4588G>T (p.Glu1530Ter) rs864622479
NM_000051.3(ATM):c.4626G>A (p.Leu1542=) rs786202784
NM_000051.3(ATM):c.4664del (p.Leu1555fs) rs876659039
NM_000051.3(ATM):c.4709T>C (p.Val1570Ala) rs140856217
NM_000051.3(ATM):c.4735C>T (p.Gln1579Ter) rs869312755
NM_000051.3(ATM):c.4776+1G>T rs771117943
NM_000051.3(ATM):c.4776+2T>A rs587781927
NM_000051.3(ATM):c.478_482del (p.Ser160fs) rs587780624
NM_000051.3(ATM):c.4909+3G>A rs778685122
NM_000051.3(ATM):c.4910-4C>T rs786202493
NM_000051.3(ATM):c.496+4T>C rs587781375
NM_000051.3(ATM):c.496+5G>A rs796051858
NM_000051.3(ATM):c.497-4dup rs768748099
NM_000051.3(ATM):c.5005+1G>T rs1057517427
NM_000051.3(ATM):c.5071A>C (p.Ser1691Arg) rs1800059
NM_000051.3(ATM):c.5080G>A (p.Ala1694Thr) rs756197350
NM_000051.3(ATM):c.513C>G (p.Tyr171Ter) rs786201693
NM_000051.3(ATM):c.5177+5G>A rs759373136
NM_000051.3(ATM):c.5188C>T (p.Arg1730Ter) rs764389018
NM_000051.3(ATM):c.5228C>T (p.Thr1743Ile) rs587779844
NM_000051.3(ATM):c.5319+6_5319+7del rs777478613
NM_000051.3(ATM):c.5320-10T>C rs864622731
NM_000051.3(ATM):c.5320-5_5320-2del rs730881310
NM_000051.3(ATM):c.5354C>A (p.Pro1785His) rs1555106368
NM_000051.3(ATM):c.5414G>A (p.Trp1805Ter) rs879254171
NM_000051.3(ATM):c.5460dup (p.Cys1821fs) rs1057516760
NM_000051.3(ATM):c.5497-2A>C rs786203796
NM_000051.3(ATM):c.5515C>T (p.Gln1839Ter) rs786204751
NM_000051.3(ATM):c.5549del (p.Leu1850fs) rs876658287
NM_000051.3(ATM):c.5558A>T (p.Asp1853Val) rs1801673
NM_000051.3(ATM):c.5573G>A (p.Trp1858Ter) rs879254076
NM_000051.3(ATM):c.5644C>T (p.Arg1882Ter) rs786204433
NM_000051.3(ATM):c.5712dup (p.Ser1905fs) rs587781730
NM_000051.3(ATM):c.5798G>A (p.Trp1933Ter) rs876658740
NM_000051.3(ATM):c.5821G>C (p.Val1941Leu) rs147187700
NM_000051.3(ATM):c.5825C>T (p.Ala1942Val) rs730881394
NM_000051.3(ATM):c.5890A>T (p.Lys1964Ter) rs201963507
NM_000051.3(ATM):c.5975A>C (p.Lys1992Thr) rs150757822
NM_000051.3(ATM):c.6040G>T (p.Glu2014Ter) rs375783941
NM_000051.3(ATM):c.6088A>G (p.Ile2030Val) rs145847315
NM_000051.3(ATM):c.6095G>A (p.Arg2032Lys) rs139770721
NM_000051.3(ATM):c.609C>T (p.Asp203=) rs144709948
NM_000051.3(ATM):c.6198+1G>A rs778031266
NM_000051.3(ATM):c.6198+5A>G rs771047560
NM_000051.3(ATM):c.6200C>A (p.Ala2067Asp) rs397514577
NM_000051.3(ATM):c.6347+1G>A rs1057517120
NM_000051.3(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer) rs587782554
NM_000051.3(ATM):c.640del (p.Ser214fs) rs786204543
NM_000051.3(ATM):c.6452+2T>C rs1064795006
NM_000051.3(ATM):c.6452+5T>A rs533830556
NM_000051.3(ATM):c.6572+12G>T rs3218677
NM_000051.3(ATM):c.6572+1G>A rs587779856
NM_000051.3(ATM):c.6572+4T>C rs587780636
NM_000051.3(ATM):c.6586A>T (p.Arg2196Ter) rs1555119011
NM_000051.3(ATM):c.664C>T (p.Gln222Ter) rs1555066917
NM_000051.3(ATM):c.6860G>C (p.Gly2287Ala) rs1800061
NM_000051.3(ATM):c.7096G>T (p.Glu2366Ter) rs587781672
NM_000051.3(ATM):c.712A>G (p.Ile238Val) rs754275014
NM_000051.3(ATM):c.7271T>G (p.Val2424Gly) rs28904921
NM_000051.3(ATM):c.7327C>T (p.Arg2443Ter) rs121434220
NM_000051.3(ATM):c.735C>T (p.Val245=) rs3218674
NM_000051.3(ATM):c.7408T>G (p.Tyr2470Asp) rs876659365
NM_000051.3(ATM):c.742C>T (p.Arg248Ter) rs730881336
NM_000051.3(ATM):c.7475T>G (p.Leu2492Arg) rs56399857
NM_000051.3(ATM):c.7494T>C (p.Ser2498=) rs34393781
NM_000051.3(ATM):c.749G>A (p.Arg250Gln) rs56123940
NM_000051.3(ATM):c.7515+20A>G rs80124497
NM_000051.3(ATM):c.7618G>A (p.Val2540Ile) rs35203200
NM_000051.3(ATM):c.7629_7629+4del rs876660041
NM_000051.3(ATM):c.7630-2A>G rs587779866
NM_000051.3(ATM):c.7788+8G>T rs112775908
NM_000051.3(ATM):c.7788G>A (p.Glu2596=) rs587780639
NM_000051.3(ATM):c.7789-3T>G rs864622185
NM_000051.3(ATM):c.785T>A (p.Leu262Ter) rs864622163
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.7927+5del rs786204437
NM_000051.3(ATM):c.7951C>T (p.Gln2651Ter) rs587781994
NM_000051.3(ATM):c.7985T>A (p.Val2662Asp) rs863224463
NM_000051.3(ATM):c.8011-6T>G rs762092284
NM_000051.3(ATM):c.802C>T (p.Gln268Ter) rs557012154
NM_000051.3(ATM):c.8122G>A (p.Asp2708Asn) rs587782719
NM_000051.3(ATM):c.8147T>C (p.Val2716Ala) rs587782652
NM_000051.3(ATM):c.8185C>T (p.Gln2729Ter) rs587781967
NM_000051.3(ATM):c.8266A>T (p.Lys2756Ter) rs371638537
NM_000051.3(ATM):c.8268+6T>A rs747153940
NM_000051.3(ATM):c.829G>T (p.Glu277Ter) rs876660933
NM_000051.3(ATM):c.8307G>A (p.Trp2769Ter) rs778269655
NM_000051.3(ATM):c.8353G>A (p.Asp2785Asn) rs587782417
NM_000051.3(ATM):c.8419-19A>G rs12279930
NM_000051.3(ATM):c.8494C>T (p.Arg2832Cys) rs587779872
NM_000051.3(ATM):c.8584+10T>C rs373321041
NM_000051.3(ATM):c.8584+2T>C rs730881326
NM_000051.3(ATM):c.8584+6C>G rs863224300
NM_000051.3(ATM):c.8629T>C (p.Leu2877=) rs730881279
NM_000051.3(ATM):c.8725A>T (p.Arg2909Ter) rs1555142845
NM_000051.3(ATM):c.8786+1G>A rs17174393
NM_000051.3(ATM):c.8786+1G>T rs17174393
NM_000051.3(ATM):c.8850+4A>C rs587782335
NM_000051.3(ATM):c.8921C>T (p.Pro2974Leu) rs139379666
NM_000051.3(ATM):c.8977C>T (p.Arg2993Ter) rs770641163
NM_000051.3(ATM):c.8987+10A>G rs1060504308
NM_000051.3(ATM):c.8988-1G>A rs730881386
NM_000051.3(ATM):c.8998C>T (p.Gln3000Ter) rs587781698
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.9139C>T (p.Arg3047Ter) rs121434219
NM_000051.3(ATM):c.9166G>T (p.Val3056Leu) rs371767164
NM_000051.3(ATM):c.967A>G (p.Ile323Val) rs587781511
NM_000053.3(ATP7B):c.-676A>G rs1021025464
NM_000053.4(ATP7B):c.1470C>A (p.Cys490Ter) rs778675259
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala) rs138427376
NM_000053.4(ATP7B):c.1708-1G>C rs137853280
NM_000053.4(ATP7B):c.1708-5T>G rs770829226
NM_000053.4(ATP7B):c.1716del (p.Gly572_Met573insTer) rs1057516893
NM_000053.4(ATP7B):c.1745_1746del (p.Ile582fs) rs753962912
NM_000053.4(ATP7B):c.1782del (p.Thr593_Tyr594insTer) rs780327716
NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala) rs587783299
NM_000053.4(ATP7B):c.1922T>C (p.Leu641Ser) rs186924074
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) rs121907998
NM_000053.4(ATP7B):c.1946+6T>C rs751287778
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259
NM_000053.4(ATP7B):c.19_20del (p.Gln7fs) rs749363958
NM_000053.4(ATP7B):c.2002A>G (p.Met668Val) rs587783301
NM_000053.4(ATP7B):c.2071G>A (p.Gly691Arg) rs121908001
NM_000053.4(ATP7B):c.2072G>T (p.Gly691Val) rs1555291801
NM_000053.4(ATP7B):c.2129G>C (p.Gly710Ala) rs1555291285
NM_000053.4(ATP7B):c.2293G>A (p.Asp765Asn) rs28942075
NM_000053.4(ATP7B):c.2305A>G (p.Met769Val) rs193922103
NM_000053.4(ATP7B):c.2332C>G (p.Arg778Gly) rs137853284
NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu) rs28942074
NM_000053.4(ATP7B):c.2355+4A>G rs776572343
NM_000053.4(ATP7B):c.2383C>T (p.Leu795Phe) rs751710854
NM_000053.4(ATP7B):c.2575+1G>A rs766149114
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val) rs121907994
NM_000053.4(ATP7B):c.2668G>A (p.Val890Met) rs786204718
NM_000053.4(ATP7B):c.2731-2A>G rs367956522
NM_000053.4(ATP7B):c.2755C>T (p.Arg919Trp) rs121907993
NM_000053.4(ATP7B):c.2804C>T (p.Thr935Met) rs750019452
NM_000053.4(ATP7B):c.2810del (p.Val937fs) rs1057516643
NM_000053.4(ATP7B):c.2827G>A (p.Gly943Ser) rs28942076
NM_000053.4(ATP7B):c.2828G>A (p.Gly943Asp) rs779323689
NM_000053.4(ATP7B):c.2865+1G>A rs587783306
NM_000053.4(ATP7B):c.2905C>T (p.Arg969Trp) rs774028495
NM_000053.4(ATP7B):c.2998G>A (p.Gly1000Arg) rs751078884
NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr) rs201497300
NM_000053.4(ATP7B):c.3053C>T (p.Ala1018Val) rs371840514
NM_000053.4(ATP7B):c.3061-12T>A rs1045194246
NM_000053.4(ATP7B):c.3121C>T (p.Arg1041Trp) rs746485916
NM_000053.4(ATP7B):c.314C>A (p.Ser105Ter) rs753236073
NM_000053.4(ATP7B):c.3188C>T (p.Ala1063Val) rs587783309
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala) rs374094065
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln) rs76151636
NM_000053.4(ATP7B):c.3247C>T (p.Leu1083Phe) rs1286080173
NM_000053.4(ATP7B):c.3263T>A (p.Leu1088Ter) rs753250853
NM_000053.4(ATP7B):c.3272G>A (p.Cys1091Tyr) rs778825095
NM_000053.4(ATP7B):c.3305T>C (p.Ile1102Thr) rs560952220
NM_000053.4(ATP7B):c.3316G>A (p.Val1106Ile) rs541208827
NM_000053.4(ATP7B):c.3426G>C (p.Gln1142His) rs778749563
NM_000053.4(ATP7B):c.3449del (p.Asn1150fs) rs1555285380
NM_000053.4(ATP7B):c.3452G>A (p.Arg1151His) rs377297166
NM_000053.4(ATP7B):c.3517G>A (p.Glu1173Lys) rs756029120
NM_000053.4(ATP7B):c.3548C>G (p.Ala1183Gly) rs587783315
NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser) rs786204547
NM_000053.4(ATP7B):c.3646G>A (p.Val1216Met) rs776280797
NM_000053.4(ATP7B):c.3649_3654del (p.Val1217_Leu1218del) rs781266802
NM_000053.4(ATP7B):c.3659C>T (p.Thr1220Met) rs193922107
NM_000053.4(ATP7B):c.3664del (p.Asp1222fs) rs886042519
NM_000053.4(ATP7B):c.3694A>C (p.Thr1232Pro) rs568009639
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn) rs199821556
NM_000053.4(ATP7B):c.388_389dup (p.Ala131fs) rs1057517384
NM_000053.4(ATP7B):c.3895C>T (p.Leu1299Phe) rs749472361
NM_000053.4(ATP7B):c.3992A>C (p.Tyr1331Ser) rs1131691741
NM_000053.4(ATP7B):c.4058G>A (p.Trp1353Ter) rs193922110
NM_000053.4(ATP7B):c.4213G>A (p.Gly1405Ser) rs189601972
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317
NM_000053.4(ATP7B):c.51+4A>T rs369488210
NM_000053.4(ATP7B):c.524_525del (p.Lys175fs) rs558037268
NM_000053.4(ATP7B):c.778dup (p.Gln260fs) rs786204570
NM_000053.4(ATP7B):c.865C>T (p.Gln289Ter) rs121907999
NM_000055.2(BCHE):c.1253G>T (p.Gly418Val) rs28933390
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly) rs1799807
NM_000055.4(BCHE):c.1004T>C (p.Leu335Pro) rs104893684
NM_000055.4(BCHE):c.1072T>A (p.Leu358Ile) rs121918557
NM_000055.4(BCHE):c.1177G>C (p.Gly393Arg) rs115129687
NM_000055.4(BCHE):c.1584T>A (p.Tyr528Ter) rs760485585
NM_000055.4(BCHE):c.428G>A (p.Gly143Asp) rs201820739
NM_000055.4(BCHE):c.849G>C (p.Glu283Asp) rs16849700
NM_000055.4(BCHE):c.884A>G (p.Lys295Arg) rs115624085
NM_000057.4(BLM):c.1081_1082TG[1] (p.Cys361_Asp362delinsTer) rs1057517030
NM_000057.4(BLM):c.1284G>A (p.Trp428Ter) rs1057516964
NM_000057.4(BLM):c.1301C>G (p.Ser434Ter) rs754203833
NM_000057.4(BLM):c.1479_1480del (p.Thr494fs) rs746244182
NM_000057.4(BLM):c.1968dup (p.Lys657fs) rs772785079
NM_000057.4(BLM):c.2015A>G (p.Gln672Arg) rs747281324
NM_000057.4(BLM):c.204C>A (p.Thr68=) rs199927688
NM_000057.4(BLM):c.205G>A (p.Glu69Lys) rs746195311
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs) rs786204471
NM_000057.4(BLM):c.2289_2290AT[1] (p.Tyr764fs) rs1555420602
NM_000057.4(BLM):c.2341_2342GA[3] (p.Asn782fs) rs1555420842
NM_000057.4(BLM):c.2407dup (p.Trp803fs) rs367543012
NM_000057.4(BLM):c.2488dup (p.Thr830fs) rs367543019
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter) rs587779884
NM_000057.4(BLM):c.296_297CA[1] (p.Gln100fs) rs745807085
NM_000057.4(BLM):c.3028del (p.Asp1010fs) rs780379121
NM_000057.4(BLM):c.3128C>A (p.Ala1043Asp) rs2229035
NM_000057.4(BLM):c.3499del (p.Ala1167fs) rs1555424305
NM_000057.4(BLM):c.3508del (p.Tyr1170fs) rs1555424311
NM_000057.4(BLM):c.3558+1G>T rs148969222
NM_000057.4(BLM):c.3589del (p.Ser1197fs) rs1555424376
NM_000057.4(BLM):c.3847C>T (p.Gln1283Ter) rs367543031
NM_000057.4(BLM):c.3892G>A (p.Gly1298Arg) rs587779889
NM_000057.4(BLM):c.4000_4004del (p.Arg1334fs) rs1057516261
NM_000057.4(BLM):c.4251A>C (p.Ser1417=) rs886051553
NM_000057.4(BLM):c.768_769CT[2] (p.Leu258fs) rs367543013
NM_000057.4(BLM):c.98+1G>T rs750293380
NM_000057.4(BLM):c.991_995del (p.Lys331fs) rs786204524
NM_000059.3(BRCA2):c.-11C>T rs76874770
NM_000059.3(BRCA2):c.-9T>C rs276174802
NM_000059.3(BRCA2):c.10024G>T (p.Glu3342Ter) rs28897761
NM_000059.3(BRCA2):c.10070C>T (p.Thr3357Ile) rs80358388
NM_000059.3(BRCA2):c.10076A>G (p.Glu3359Gly) rs80358389
NM_000059.3(BRCA2):c.10087A>G (p.Ile3363Val) rs55881945
NM_000059.3(BRCA2):c.10111A>G (p.Thr3371Ala) rs80358393
NM_000059.3(BRCA2):c.1011C>T (p.Asn337=) rs41293473
NM_000059.3(BRCA2):c.10120A>G (p.Thr3374Ala) rs80358395
NM_000059.3(BRCA2):c.10160C>G (p.Thr3387Ser) rs863224584
NM_000059.3(BRCA2):c.10220A>G (p.Asn3407Ser) rs80358401
NM_000059.3(BRCA2):c.10222A>T (p.Lys3408Ter) rs80358402
NM_000059.3(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426
NM_000059.3(BRCA2):c.10240A>G (p.Thr3414Ala) rs80358405
NM_000059.3(BRCA2):c.1054dup (p.Tyr352fs) rs80359261
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.1127T>G (p.Phe376Cys) rs80358410
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.1189C>T (p.Gln397Ter) rs760815829
NM_000059.3(BRCA2):c.1218C>G (p.Ala406=) rs276174807
NM_000059.3(BRCA2):c.1244A>G (p.His415Arg) rs80358417
NM_000059.3(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046
NM_000059.3(BRCA2):c.1275A>G (p.Glu425=) rs34355306
NM_000059.3(BRCA2):c.1287A>G (p.Leu429=) rs80359782
NM_000059.3(BRCA2):c.1294_1295GA[1] (p.Asn433fs) rs80359276
NM_000059.3(BRCA2):c.1342C>T (p.Arg448Cys) rs80358422
NM_000059.3(BRCA2):c.1343G>A (p.Arg448His) rs80358423
NM_000059.3(BRCA2):c.1362A>G (p.Lys454=) rs55919657
NM_000059.3(BRCA2):c.136C>T (p.Pro46Ser) rs80358425
NM_000059.3(BRCA2):c.1385A>G (p.Glu462Gly) rs56403624
NM_000059.3(BRCA2):c.1395A>C (p.Val465=) rs11571641
NM_000059.3(BRCA2):c.1427C>G (p.Ser476Cys) rs80358431
NM_000059.3(BRCA2):c.1441A>G (p.Ile481Val) rs760559435
NM_000059.3(BRCA2):c.1456C>T (p.Gln486Ter) rs80358434
NM_000059.3(BRCA2):c.145G>T (p.Glu49Ter) rs80358435
NM_000059.3(BRCA2):c.1460C>A (p.Ala487Glu) rs56390402
NM_000059.3(BRCA2):c.1478C>T (p.Pro493Leu) rs786202916
NM_000059.3(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708
NM_000059.3(BRCA2):c.1538A>G (p.Lys513Arg) rs28897709
NM_000059.3(BRCA2):c.1550A>G (p.Asn517Ser) rs80358439
NM_000059.3(BRCA2):c.1564G>C (p.Gly522Arg) rs80358442
NM_000059.3(BRCA2):c.1631C>T (p.Thr544Ile) rs80358448
NM_000059.3(BRCA2):c.1689G>A (p.Trp563Ter) rs80358456
NM_000059.3(BRCA2):c.171C>T (p.Tyr57=) rs201523522
NM_000059.3(BRCA2):c.1744A>G (p.Thr582Ala) rs80358457
NM_000059.3(BRCA2):c.1753A>T (p.Lys585Ter) rs1555282048
NM_000059.3(BRCA2):c.1769T>G (p.Phe590Cys) rs80358459
NM_000059.3(BRCA2):c.1786G>C (p.Asp596His) rs56328701
NM_000059.3(BRCA2):c.1788T>C (p.Asp596=) rs11571642
NM_000059.3(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710
NM_000059.3(BRCA2):c.179A>G (p.Asn60Ser) rs80358463
NM_000059.3(BRCA2):c.1804G>A (p.Gly602Arg) rs80358466
NM_000059.3(BRCA2):c.1810A>G (p.Lys604Glu) rs80358467
NM_000059.3(BRCA2):c.1813dupA (p.Ile605Asnfs) rs80359306
NM_000059.3(BRCA2):c.1814T>C (p.Ile605Thr) rs80358468
NM_000059.3(BRCA2):c.1817C>T (p.Pro606Leu) rs80358469
NM_000059.3(BRCA2):c.1820A>C (p.Lys607Thr) rs55962656
NM_000059.3(BRCA2):c.1838T>G (p.Leu613Arg) rs587780646
NM_000059.3(BRCA2):c.1889C>T (p.Thr630Ile) rs80358479
NM_000059.3(BRCA2):c.1909+1G>A rs587781629
NM_000059.3(BRCA2):c.1909+22del rs276174816
NM_000059.3(BRCA2):c.1938C>T (p.Ser646=) rs28897711
NM_000059.3(BRCA2):c.1951G>T (p.Asp651Tyr) rs80358482
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.215A>G (p.Asn72Ser) rs276174818
NM_000059.3(BRCA2):c.2233A>G (p.Lys745Glu) rs374691587
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.2320A>G (p.Thr774Ala) rs55968715
NM_000059.3(BRCA2):c.2330A>G (p.Asp777Gly) rs780489283
NM_000059.3(BRCA2):c.2332G>A (p.Val778Ile) rs587779360
NM_000059.3(BRCA2):c.2348T>G (p.Val783Gly) rs768143929
NM_000059.3(BRCA2):c.2350A>G (p.Met784Val) rs11571653
NM_000059.3(BRCA2):c.2380dup (p.Met794fs) rs730881602
NM_000059.3(BRCA2):c.2412A>G (p.Glu804=) rs587780866
NM_000059.3(BRCA2):c.2416G>C (p.Asp806His) rs56404215
NM_000059.3(BRCA2):c.241T>A (p.Phe81Ile) rs80358507
NM_000059.3(BRCA2):c.2429C>T (p.Thr810Ile) rs80358509
NM_000059.3(BRCA2):c.2459A>G (p.Asp820Gly) rs80358511
NM_000059.3(BRCA2):c.2488A>G (p.Asn830Asp) rs574039421
NM_000059.3(BRCA2):c.2490C>A (p.Asn830Lys) rs56331088
NM_000059.3(BRCA2):c.2526A>G (p.Val842=) rs770778164
NM_000059.3(BRCA2):c.2538A>C (p.Ser846=) rs11571654
NM_000059.3(BRCA2):c.257T>C (p.Leu86Pro) rs572782576
NM_000059.3(BRCA2):c.267G>A (p.Pro89=) rs587780648
NM_000059.3(BRCA2):c.2680G>A (p.Val894Ile) rs28897715
NM_000059.3(BRCA2):c.2683G>A (p.Ala895Thr) rs786203045
NM_000059.3(BRCA2):c.2698A>G (p.Asn900Asp) rs55736268
NM_000059.3(BRCA2):c.2738_2742ACTTG[1] (p.Thr915fs) rs786204752
NM_000059.3(BRCA2):c.2779A>G (p.Met927Val) rs786201837
NM_000059.3(BRCA2):c.2786T>C (p.Leu929Ser) rs2227943
NM_000059.3(BRCA2):c.2803G>A (p.Asp935Asn) rs28897716
NM_000059.3(BRCA2):c.2803G>C (p.Asp935His) rs28897716
NM_000059.3(BRCA2):c.2813C>A (p.Ala938Glu) rs55773834
NM_000059.3(BRCA2):c.2837A>G (p.Asp946Gly) rs55972907
NM_000059.3(BRCA2):c.2860_2862del rs80359360
NM_000059.3(BRCA2):c.2881C>T (p.Gln961Ter) rs80358538
NM_000059.3(BRCA2):c.2883G>A (p.Gln961=) rs11571655
NM_000059.3(BRCA2):c.2919G>A (p.Ser973=) rs45525041
NM_000059.3(BRCA2):c.2926_2927delinsAT (p.Ser976Ile) rs276174831
NM_000059.3(BRCA2):c.2957A>G (p.Asn986Ser) rs28897718
NM_000059.3(BRCA2):c.2960A>T (p.Asn987Ile) rs2227944
NM_000059.3(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944
NM_000059.3(BRCA2):c.2T>C (p.Met1Thr) rs80358547
NM_000059.3(BRCA2):c.3007_3008CA[1] (p.His1003fs) rs397507300
NM_000059.3(BRCA2):c.3032C>G (p.Thr1011Arg) rs80358548
NM_000059.3(BRCA2):c.308dup (p.Leu103fs) rs1057517572
NM_000059.3(BRCA2):c.316+12A>G rs186419778
NM_000059.3(BRCA2):c.3167_3170del (p.Gln1056fs) rs80359372
NM_000059.3(BRCA2):c.3173A>G (p.Lys1058Arg) rs431825302
NM_000059.3(BRCA2):c.3211C>T (p.His1071Tyr) rs80358564
NM_000059.3(BRCA2):c.3218A>G (p.Gln1073Arg) rs80358566
NM_000059.3(BRCA2):c.3225T>C (p.Ser1075=) rs779228375
NM_000059.3(BRCA2):c.322A>C (p.Asn108His) rs80358567
NM_000059.3(BRCA2):c.3254A>G (p.His1085Arg) rs80358570
NM_000059.3(BRCA2):c.3262C>T (p.Pro1088Ser) rs80358572
NM_000059.3(BRCA2):c.3264T>C (p.Pro1088=) rs36060526
NM_000059.3(BRCA2):c.3264dupT (p.Gln1089Serfs) rs80359380
NM_000059.3(BRCA2):c.3299A>T (p.Asn1100Ile) rs80358575
NM_000059.3(BRCA2):c.3302A>G (p.His1101Arg) rs398122761
NM_000059.3(BRCA2):c.3304A>T (p.Asn1102Tyr) rs28897719
NM_000059.3(BRCA2):c.3336del (p.Glu1113fs) rs398122763
NM_000059.3(BRCA2):c.3401G>C (p.Ser1134Thr) rs398122764
NM_000059.3(BRCA2):c.3401del (p.Ser1134fs) rs1555283219
NM_000059.3(BRCA2):c.3420T>C (p.Ser1140=) rs118093942
NM_000059.3(BRCA2):c.3431T>G (p.Val1144Gly) rs80358587
NM_000059.3(BRCA2):c.343A>G (p.Lys115Glu) rs56242644
NM_000059.3(BRCA2):c.3453C>G (p.Ile1151Met) rs80358592
NM_000059.3(BRCA2):c.3477C>A (p.Cys1159Ter) rs431825307
NM_000059.3(BRCA2):c.3479G>A (p.Arg1160Lys) rs183920365
NM_000059.3(BRCA2):c.3494A>G (p.His1165Arg) rs587782201
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.3516G>A (p.Ser1172=) rs1799952
NM_000059.3(BRCA2):c.3539A>G (p.Lys1180Arg) rs28897720
NM_000059.3(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer) rs80359388
NM_000059.3(BRCA2):c.3569G>A (p.Arg1190Gln) rs80358605
NM_000059.3(BRCA2):c.3575T>G (p.Phe1192Cys) rs80358606
NM_000059.3(BRCA2):c.3581G>A (p.Gly1194Asp) rs28897721
NM_000059.3(BRCA2):c.3661T>C (p.Ser1221Pro) rs80358611
NM_000059.3(BRCA2):c.3675A>G (p.Thr1225=) rs276174835
NM_000059.3(BRCA2):c.3682A>G (p.Asn1228Asp) rs28897722
NM_000059.3(BRCA2):c.3774_3775del (p.Ile1258fs) rs886038094
NM_000059.3(BRCA2):c.3779T>G (p.Leu1260Ter) rs1555283397
NM_000059.3(BRCA2):c.3779dup (p.Leu1260fs) rs397507686
NM_000059.3(BRCA2):c.3794G>T (p.Cys1265Phe) rs397507315
NM_000059.3(BRCA2):c.3814A>G (p.Met1272Val) rs80358624
NM_000059.3(BRCA2):c.3839A>T (p.Asp1280Val) rs56337919
NM_000059.3(BRCA2):c.3859_3860del (p.Lys1286_Asn1287insTer) rs80359406
NM_000059.3(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485
NM_000059.3(BRCA2):c.3871C>T (p.Gln1291Ter) rs80358631
NM_000059.3(BRCA2):c.3910A>G (p.Thr1304Ala) rs28897723
NM_000059.3(BRCA2):c.3967A>T (p.Lys1323Ter) rs80358648
NM_000059.3(BRCA2):c.4007_4008insCATC (p.Asp1337fs) rs878853577
NM_000059.3(BRCA2):c.4046T>C (p.Ile1349Thr) rs80358654
NM_000059.3(BRCA2):c.4054G>T (p.Asp1352Tyr) rs80358655
NM_000059.3(BRCA2):c.4058_4062del (p.Glu1353fs) rs397507322
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.4090A>C (p.Ile1364Leu) rs56248502
NM_000059.3(BRCA2):c.4094G>A (p.Cys1365Tyr) rs80358657
NM_000059.3(BRCA2):c.4127_4130del (p.Gly1376fs) rs397507323
NM_000059.3(BRCA2):c.4146_4148del rs80359432
NM_000059.3(BRCA2):c.4178C>T (p.Ala1393Val) rs398122776
NM_000059.3(BRCA2):c.4179G>A (p.Ala1393=) rs770531115
NM_000059.3(BRCA2):c.4187A>G (p.Gln1396Arg) rs55969723
NM_000059.3(BRCA2):c.4241C>T (p.Thr1414Met) rs70953664
NM_000059.3(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727
NM_000059.3(BRCA2):c.4258del (p.Asp1420fs) rs80359436
NM_000059.3(BRCA2):c.4284dup (p.Gln1429fs) rs80359439
NM_000059.3(BRCA2):c.4315G>A (p.Ala1439Thr) rs80358666
NM_000059.3(BRCA2):c.4376A>G (p.Asn1459Ser) rs117187202
NM_000059.3(BRCA2):c.4405_4409del (p.Asp1469fs) rs397507331
NM_000059.3(BRCA2):c.440A>G (p.Gln147Arg) rs80358674
NM_000059.3(BRCA2):c.4436G>C (p.Ser1479Thr) rs80358678
NM_000059.3(BRCA2):c.4474_4477AAAG[1] (p.Glu1493fs) rs80359454
NM_000059.3(BRCA2):c.4531G>A (p.Glu1511Lys) rs376338226
NM_000059.3(BRCA2):c.4534C>T (p.Arg1512Cys) rs80358684
NM_000059.3(BRCA2):c.4552del (p.Glu1518fs) rs398122783
NM_000059.3(BRCA2):c.4554del (p.Glu1518fs) rs80359458
NM_000059.3(BRCA2):c.4563A>C (p.Leu1521=) rs206075
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.4588A>T (p.Lys1530Ter) rs80358692
NM_000059.3(BRCA2):c.4599A>C (p.Lys1533Asn) rs80358694
NM_000059.3(BRCA2):c.4614T>C (p.Ser1538=) rs45520945
NM_000059.3(BRCA2):c.4656T>C (p.Gly1552=) rs41293491
NM_000059.3(BRCA2):c.4670C>G (p.Thr1557Ser) rs80358698
NM_000059.3(BRCA2):c.4681C>A (p.His1561Asn) rs2219594
NM_000059.3(BRCA2):c.4698C>T (p.Thr1566=) rs750813972
NM_000059.3(BRCA2):c.4718G>A (p.Cys1573Tyr) rs56249050
NM_000059.3(BRCA2):c.4731del (p.Glu1577fs) rs397507740
NM_000059.3(BRCA2):c.475+14C>T rs55698822
NM_000059.3(BRCA2):c.4759G>A (p.Ala1587Thr) rs56137239
NM_000059.3(BRCA2):c.4915G>A (p.Val1639Ile) rs80358716
NM_000059.3(BRCA2):c.5020A>G (p.Ser1674Gly) rs80358725
NM_000059.3(BRCA2):c.5035del (p.Thr1679fs) rs80359477
NM_000059.3(BRCA2):c.506A>G (p.Lys169Arg) rs80358730
NM_000059.3(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561
NM_000059.3(BRCA2):c.5095G>A (p.Asp1699Asn) rs80358731
NM_000059.3(BRCA2):c.5106_5109AGAA[1] (p.Glu1703_Arg1704insTer) rs879254123
NM_000059.3(BRCA2):c.5153A>G (p.Asn1718Ser) rs80358739
NM_000059.3(BRCA2):c.5159C>A (p.Ser1720Ter) rs80358740
NM_000059.3(BRCA2):c.517-11T>C rs81002828
NM_000059.3(BRCA2):c.517-12C>A rs398122795
NM_000059.3(BRCA2):c.517-19C>T rs11571623
NM_000059.3(BRCA2):c.517-2A>G rs81002858
NM_000059.3(BRCA2):c.517-4C>G rs81002804
NM_000059.3(BRCA2):c.5171T>C (p.Ile1724Thr) rs80358743
NM_000059.3(BRCA2):c.5191C>A (p.His1731Asn) rs80358745
NM_000059.3(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415
NM_000059.3(BRCA2):c.5199C>T (p.Ser1733=) rs28897734
NM_000059.3(BRCA2):c.5270_5286del (p.Tyr1757fs) rs80359502
NM_000059.3(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755
NM_000059.3(BRCA2):c.5319G>A (p.Glu1773=) rs376257217
NM_000059.3(BRCA2):c.5344C>A (p.Gln1782Lys) rs80358757
NM_000059.3(BRCA2):c.5378A>G (p.Asn1793Ser) rs80358759
NM_000059.3(BRCA2):c.5390C>G (p.Ala1797Gly) rs80358760
NM_000059.3(BRCA2):c.53G>A (p.Arg18His) rs80358762
NM_000059.3(BRCA2):c.5414A>G (p.Asn1805Ser) rs80358765
NM_000059.3(BRCA2):c.5418A>G (p.Glu1806=) rs34351119
NM_000059.3(BRCA2):c.5427C>T (p.Cys1809=) rs80359791
NM_000059.3(BRCA2):c.5428G>A (p.Val1810Ile) rs80358766
NM_000059.3(BRCA2):c.5474C>T (p.Ala1825Val) rs397507352
NM_000059.3(BRCA2):c.5479A>G (p.Ile1827Val) rs80358770
NM_000059.3(BRCA2):c.551T>C (p.Leu184Pro) rs80358775
NM_000059.3(BRCA2):c.5542del (p.Ser1848fs) rs80359519
NM_000059.3(BRCA2):c.5554G>A (p.Val1852Ile) rs80358777
NM_000059.3(BRCA2):c.5590_5591del (p.Asp1864fs) rs886040598
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.5631del (p.Asn1877fs) rs397507357
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.5653del (p.Cys1885fs) rs886040602
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048
NM_000059.3(BRCA2):c.5710C>G (p.Leu1904Val) rs55875643
NM_000059.3(BRCA2):c.5715dup (p.Asn1906Ter) rs587782901
NM_000059.3(BRCA2):c.5723T>C (p.Leu1908Pro) rs80358797
NM_000059.3(BRCA2):c.5737T>C (p.Cys1913Arg) rs80358799
NM_000059.3(BRCA2):c.5737T>G (p.Cys1913Gly) rs80358799
NM_000059.3(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117
NM_000059.3(BRCA2):c.5752C>T (p.His1918Tyr) rs80358803
NM_000059.3(BRCA2):c.5753A>G (p.His1918Arg) rs80358804
NM_000059.3(BRCA2):c.575T>C (p.Met192Thr) rs80358805
NM_000059.3(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375
NM_000059.3(BRCA2):c.5808G>A (p.Met1936Ile) rs759138390
NM_000059.3(BRCA2):c.5839C>T (p.Pro1947Ser) rs80358812
NM_000059.3(BRCA2):c.5851_5854del (p.Ser1951fs) rs80359543
NM_000059.3(BRCA2):c.5864C>A (p.Ser1955Ter) rs80358815
NM_000059.3(BRCA2):c.5869A>G (p.Ile1957Val) rs80358817
NM_000059.3(BRCA2):c.5882G>A (p.Ser1961Asn) rs80358820
NM_000059.3(BRCA2):c.5893C>T (p.Leu1965Phe) rs398122542
NM_000059.3(BRCA2):c.5896C>T (p.His1966Tyr) rs80358822
NM_000059.3(BRCA2):c.5921C>T (p.Thr1974Ile) rs55730620
NM_000059.3(BRCA2):c.5925del (p.Cys1975fs) rs1555284465
NM_000059.3(BRCA2):c.5946del (p.Ser1982fs) rs80359550
NM_000059.3(BRCA2):c.6037A>T (p.Lys2013Ter) rs80358840
NM_000059.3(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954
NM_000059.3(BRCA2):c.6101G>A (p.Arg2034His) rs80358849
NM_000059.3(BRCA2):c.6125A>C (p.Gln2042Pro) rs80358852
NM_000059.3(BRCA2):c.6125A>G (p.Gln2042Arg) rs80358852
NM_000059.3(BRCA2):c.6131G>T (p.Gly2044Val) rs56191579
NM_000059.3(BRCA2):c.6225A>C (p.Lys2075Asn) rs80358863
NM_000059.3(BRCA2):c.6231G>C (p.Lys2077Asn) rs541826447
NM_000059.3(BRCA2):c.6237G>A (p.Val2079=) rs864622516
NM_000059.3(BRCA2):c.6269A>G (p.His2090Arg) rs397507366
NM_000059.3(BRCA2):c.6275_6276del (p.Leu2092fs) rs11571658
NM_000059.3(BRCA2):c.6290C>T (p.Thr2097Met) rs80358866
NM_000059.3(BRCA2):c.6293C>T (p.Ser2098Phe) rs80358867
NM_000059.3(BRCA2):c.631+1G>A rs81002897
NM_000059.3(BRCA2):c.631+25C>T rs367871824
NM_000059.3(BRCA2):c.631+2T>A rs81002899
NM_000059.3(BRCA2):c.631+7A>G rs431825339
NM_000059.3(BRCA2):c.6317T>C (p.Leu2106Pro) rs56172926
NM_000059.3(BRCA2):c.632-13T>G rs775947267
NM_000059.3(BRCA2):c.632-16A>C rs81002905
NM_000059.3(BRCA2):c.6322C>T (p.Arg2108Cys) rs55794205
NM_000059.3(BRCA2):c.6323G>A (p.Arg2108His) rs35029074
NM_000059.3(BRCA2):c.6325G>A (p.Val2109Ile) rs79456940
NM_000059.3(BRCA2):c.6338A>G (p.Asn2113Ser) rs80358874
NM_000059.3(BRCA2):c.6347A>G (p.His2116Arg) rs55953736
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.6412G>T (p.Val2138Phe) rs11571659
NM_000059.3(BRCA2):c.6443C>A (p.Ser2148Tyr) rs80358880
NM_000059.3(BRCA2):c.6465C>T (p.Leu2155=) rs746099644
NM_000059.3(BRCA2):c.6475C>G (p.Gln2159Glu) rs398122558
NM_000059.3(BRCA2):c.6513G>T (p.Val2171=) rs206076
NM_000059.3(BRCA2):c.6531T>A (p.Ile2177=) rs587780658
NM_000059.3(BRCA2):c.6540G>C (p.Leu2180Phe) rs398122560
NM_000059.3(BRCA2):c.6550C>G (p.Gln2184Glu) rs80358887
NM_000059.3(BRCA2):c.658_659del (p.Val220fs) rs80359604
NM_000059.3(BRCA2):c.6613G>A (p.Val2205Met) rs80358889
NM_000059.3(BRCA2):c.6626T>C (p.Ile2209Thr) rs431825344
NM_000059.3(BRCA2):c.6633T>C (p.Val2211=) rs80359795
NM_000059.3(BRCA2):c.6665A>G (p.Tyr2222Cys) rs397507875
NM_000059.3(BRCA2):c.67+16A>T rs529148674
NM_000059.3(BRCA2):c.67+17T>C rs767648965
NM_000059.3(BRCA2):c.67+19T>C rs587780865
NM_000059.3(BRCA2):c.6706G>A (p.Glu2236Lys) rs41293503
NM_000059.3(BRCA2):c.6738A>G (p.Pro2246=) rs760272304
NM_000059.3(BRCA2):c.6739A>G (p.Ser2247Gly) rs80358896
NM_000059.3(BRCA2):c.6761T>A (p.Phe2254Tyr) rs786202915
NM_000059.3(BRCA2):c.6785T>G (p.Met2262Arg) rs80358904
NM_000059.3(BRCA2):c.68-7T>A rs81002830
NM_000059.3(BRCA2):c.68-7dup rs276174878
NM_000059.3(BRCA2):c.6806T>C (p.Ile2269Thr) rs398122564
NM_000059.3(BRCA2):c.6816_6820del (p.Gly2274fs) rs587781803
NM_000059.3(BRCA2):c.682-13A>G rs81002888
NM_000059.3(BRCA2):c.6821G>T (p.Gly2274Val) rs55712212
NM_000059.3(BRCA2):c.6842-19A>G rs81002865
NM_000059.3(BRCA2):c.6853A>G (p.Ile2285Val) rs56272235
NM_000059.3(BRCA2):c.6879del (p.Phe2293fs) rs886040932
NM_000059.3(BRCA2):c.6886A>C (p.Ile2296Leu) rs576279166
NM_000059.3(BRCA2):c.6892G>A (p.Glu2298Lys) rs80358914
NM_000059.3(BRCA2):c.6921A>G (p.Ser2307=) rs181183366
NM_000059.3(BRCA2):c.6935A>T (p.Asp2312Val) rs80358916
NM_000059.3(BRCA2):c.6937+594T>G rs191253965
NM_000059.3(BRCA2):c.6944_6947del (p.Ile2315fs) rs80359629
NM_000059.3(BRCA2):c.6986C>T (p.Pro2329Leu) rs80358925
NM_000059.3(BRCA2):c.7007+18T>A rs377471435
NM_000059.3(BRCA2):c.7007G>A (p.Arg2336His) rs28897743
NM_000059.3(BRCA2):c.7008-20_7008-17del rs276174887
NM_000059.3(BRCA2):c.7008-25C>T rs751803680
NM_000059.3(BRCA2):c.7008-2A>T rs81002823
NM_000059.3(BRCA2):c.7008-62A>G rs76584943
NM_000059.3(BRCA2):c.7017G>C (p.Lys2339Asn) rs45574331
NM_000059.3(BRCA2):c.7021C>T (p.Arg2341Cys) rs41293505
NM_000059.3(BRCA2):c.7024C>T (p.Gln2342Ter) rs80358928
NM_000059.3(BRCA2):c.7056T>A (p.Pro2352=) rs276174888
NM_000059.3(BRCA2):c.7096C>G (p.Leu2366Val) rs80358941
NM_000059.3(BRCA2):c.7102T>G (p.Leu2368Val) rs397507382
NM_000059.3(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008
NM_000059.3(BRCA2):c.7188G>A (p.Leu2396=) rs587780871
NM_000059.3(BRCA2):c.71_96del (p.Asp23_Leu24insTer) rs80359637
NM_000059.3(BRCA2):c.7224A>G (p.Pro2408=) rs276174891
NM_000059.3(BRCA2):c.7230del (p.Phe2410fs) rs1555286052
NM_000059.3(BRCA2):c.7232A>C (p.Lys2411Thr) rs80358950
NM_000059.3(BRCA2):c.7241C>G (p.Ser2414Ter) rs80358951
NM_000059.3(BRCA2):c.7252A>G (p.Arg2418Gly) rs80358953
NM_000059.3(BRCA2):c.7313A>G (p.Asp2438Gly) rs80358957
NM_000059.3(BRCA2):c.7319A>G (p.His2440Arg) rs4986860
NM_000059.3(BRCA2):c.7366C>T (p.Gln2456Ter) rs397507912
NM_000059.3(BRCA2):c.740T>C (p.Ile247Thr) rs80358962
NM_000059.3(BRCA2):c.7415A>C (p.Lys2472Thr) rs80358963
NM_000059.3(BRCA2):c.7435+6G>A rs81002852
NM_000059.3(BRCA2):c.7436-14T>G rs81002814
NM_000059.3(BRCA2):c.7448G>A (p.Ser2483Asn) rs80358967
NM_000059.3(BRCA2):c.7463G>A (p.Arg2488Lys) rs80358968
NM_000059.3(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707
NM_000059.3(BRCA2):c.747T>A (p.Ser249=) rs767165913
NM_000059.3(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624
NM_000059.3(BRCA2):c.7505G>A (p.Arg2502His) rs56070345
NM_000059.3(BRCA2):c.7506C>T (p.Arg2502=) rs140693106
NM_000059.3(BRCA2):c.7507G>A (p.Val2503Ile) rs587782191
NM_000059.3(BRCA2):c.7525dup (p.Ser2509fs) rs80359656
NM_000059.3(BRCA2):c.7534C>T (p.Leu2512Phe) rs80358980
NM_000059.3(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744
NM_000059.3(BRCA2):c.7559G>A (p.Arg2520Gln) rs80358982
NM_000059.3(BRCA2):c.7601C>T (p.Ala2534Val) rs74047012
NM_000059.3(BRCA2):c.7626G>A (p.Thr2542=) rs61754138
NM_000059.3(BRCA2):c.7637C>T (p.Ser2546Phe) rs398122586
NM_000059.3(BRCA2):c.7684T>C (p.Phe2562Leu) rs80358995
NM_000059.3(BRCA2):c.771_775del (p.Asn257fs) rs80359671
NM_000059.3(BRCA2):c.7759C>T (p.Leu2587Phe) rs56335340
NM_000059.3(BRCA2):c.7805+13A>G rs149769332
NM_000059.3(BRCA2):c.7805+6C>G rs81002819
NM_000059.3(BRCA2):c.7847del (p.Ser2616fs) rs80359685
NM_000059.3(BRCA2):c.7865A>G (p.Asn2622Ser) rs142899125
NM_000059.3(BRCA2):c.7878G>A (p.Trp2626Ter) rs80359013
NM_000059.3(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013
NM_000059.3(BRCA2):c.7928C>G (p.Ala2643Gly) rs80359018
NM_000059.3(BRCA2):c.794-11T>C rs81002822
NM_000059.3(BRCA2):c.7946del (p.Pro2649fs) rs863224828
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.7976+5G>A rs786201180
NM_000059.3(BRCA2):c.7976G>A (p.Arg2659Lys) rs80359027
NM_000059.3(BRCA2):c.7977-15T>G rs431825361
NM_000059.3(BRCA2):c.7979_7991del (p.Tyr2660fs) rs730881614
NM_000059.3(BRCA2):c.7985C>A (p.Thr2662Lys) rs431825362
NM_000059.3(BRCA2):c.7994A>G (p.Asp2665Gly) rs28897745
NM_000059.3(BRCA2):c.8007A>G (p.Arg2669=) rs143999963
NM_000059.3(BRCA2):c.8009C>T (p.Ser2670Leu) rs80359035
NM_000059.3(BRCA2):c.8010G>A (p.Ser2670=) rs146430937
NM_000059.3(BRCA2):c.8023A>G (p.Ile2675Val) rs397507954
NM_000059.3(BRCA2):c.8027T>C (p.Met2676Thr) rs80359038
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.8090G>A (p.Ser2697Asn) rs80359051
NM_000059.3(BRCA2):c.8092G>A (p.Ala2698Thr) rs80359052
NM_000059.3(BRCA2):c.8111C>T (p.Ser2704Phe) rs80359054
NM_000059.3(BRCA2):c.8117A>G (p.Asn2706Ser) rs80359055
NM_000059.3(BRCA2):c.8128A>G (p.Ser2710Gly) rs398122597
NM_000059.3(BRCA2):c.8134G>A (p.Asp2712Asn) rs80359056
NM_000059.3(BRCA2):c.8143A>T (p.Lys2715Ter) rs863224469
NM_000059.3(BRCA2):c.8145del (p.Val2716fs) rs1135401923
NM_000059.3(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747
NM_000059.3(BRCA2):c.8154T>C (p.Ile2718=) rs148880015
NM_000059.3(BRCA2):c.8167G>C (p.Asp2723His) rs41293511
NM_000059.3(BRCA2):c.8168A>C (p.Asp2723Ala) rs41293513
NM_000059.3(BRCA2):c.8168A>G (p.Asp2723Gly) rs41293513
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.8188G>C (p.Ala2730Pro) rs80359066
NM_000059.3(BRCA2):c.8215G>A (p.Val2739Ile) rs80359069
NM_000059.3(BRCA2):c.8243G>A (p.Gly2748Asp) rs80359071
NM_000059.3(BRCA2):c.8331+16C>G rs730881595
NM_000059.3(BRCA2):c.8332-2A>G rs587782774
NM_000059.3(BRCA2):c.8332-6G>T rs587780872
NM_000059.3(BRCA2):c.8356G>A (p.Ala2786Thr) rs80359077
NM_000059.3(BRCA2):c.8359C>T (p.Arg2787Cys) rs41293517
NM_000059.3(BRCA2):c.8360G>A (p.Arg2787His) rs80359078
NM_000059.3(BRCA2):c.8377G>A (p.Gly2793Arg) rs80359082
NM_000059.3(BRCA2):c.8417C>T (p.Ser2806Leu) rs587782785
NM_000059.3(BRCA2):c.8421G>A (p.Ser2807=) rs371278843
NM_000059.3(BRCA2):c.8460A>C (p.Val2820=) rs9590940
NM_000059.3(BRCA2):c.8478C>A (p.Tyr2826Ter) rs776353983
NM_000059.3(BRCA2):c.8487+19A>G rs11571743
NM_000059.3(BRCA2):c.8487+8G>A rs81002838
NM_000059.3(BRCA2):c.8488-19G>A rs398122607
NM_000059.3(BRCA2):c.8488-1G>A rs397507404
NM_000059.3(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746
NM_000059.3(BRCA2):c.8525G>A (p.Arg2842His) rs80359105
NM_000059.3(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747
NM_000059.3(BRCA2):c.856T>C (p.Ser286Pro) rs80359111
NM_000059.3(BRCA2):c.8573A>G (p.Gln2858Arg) rs80359114
NM_000059.3(BRCA2):c.8633-16C>G rs81002818
NM_000059.3(BRCA2):c.8633-4T>A rs397507407
NM_000059.3(BRCA2):c.865A>C (p.Asn289His) rs766173
NM_000059.3(BRCA2):c.865A>G (p.Asn289Asp) rs766173
NM_000059.3(BRCA2):c.8668C>A (p.Leu2890Ile) rs80359127
NM_000059.3(BRCA2):c.8687G>A (p.Arg2896His) rs80359128
NM_000059.3(BRCA2):c.8694G>A (p.Leu2898=) rs556762256
NM_000059.3(BRCA2):c.8699A>T (p.Asp2900Val) rs398122712
NM_000059.3(BRCA2):c.8702G>A (p.Gly2901Asp) rs80359129
NM_000059.3(BRCA2):c.8723T>G (p.Val2908Gly) rs28897753
NM_000059.3(BRCA2):c.8754+4A>G rs81002893
NM_000059.3(BRCA2):c.8754+4A>T rs81002893
NM_000059.3(BRCA2):c.8755-19A>G rs398122713
NM_000059.3(BRCA2):c.8755-1G>A rs81002812
NM_000059.3(BRCA2):c.8756G>T (p.Gly2919Val) rs80359131
NM_000059.3(BRCA2):c.8807T>C (p.Leu2936Ser) rs398122714
NM_000059.3(BRCA2):c.880G>T (p.Glu294Ter) rs397508009
NM_000059.3(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047
NM_000059.3(BRCA2):c.8850G>A (p.Lys2950=) rs28897754
NM_000059.3(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000059.3(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769
NM_000059.3(BRCA2):c.8866G>C (p.Glu2956Gln) rs142040996
NM_000059.3(BRCA2):c.8867A>C (p.Glu2956Ala) rs151174152
NM_000059.3(BRCA2):c.887A>G (p.Tyr296Cys) rs45457795
NM_000059.3(BRCA2):c.8893G>C (p.Asp2965His) rs80359141
NM_000059.3(BRCA2):c.8905G>A (p.Val2969Met) rs59004709
NM_000059.3(BRCA2):c.8917C>T (p.Arg2973Cys) rs45469092
NM_000059.3(BRCA2):c.8953+16C>T rs81002892
NM_000059.3(BRCA2):c.8954-3C>G rs81002844
NM_000059.3(BRCA2):c.8954-5_8954-2del rs587782878
NM_000059.3(BRCA2):c.9004G>A (p.Glu3002Lys) rs80359152
NM_000059.3(BRCA2):c.9032T>C (p.Leu3011Pro) rs80359155
NM_000059.3(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755
NM_000059.3(BRCA2):c.9106C>G (p.Gln3036Glu) rs202155613
NM_000059.3(BRCA2):c.9117+9C>T rs81002869
NM_000059.3(BRCA2):c.9148C>T (p.Gln3050Ter) rs80359170
NM_000059.3(BRCA2):c.9154C>T (p.Arg3052Trp) rs45580035
NM_000059.3(BRCA2):c.9175A>G (p.Lys3059Glu) rs80359174
NM_000059.3(BRCA2):c.9190G>A (p.Asp3064Asn) rs80359177
NM_000059.3(BRCA2):c.9227G>A (p.Gly3076Glu) rs80359187
NM_000059.3(BRCA2):c.9234C>T (p.Val3078=) rs587782428
NM_000059.3(BRCA2):c.9235G>A (p.Val3079Ile) rs55933907
NM_000059.3(BRCA2):c.9235del (p.Val3079fs) rs397507422
NM_000059.3(BRCA2):c.9237T>C (p.Val3079=) rs80359805
NM_000059.3(BRCA2):c.9253dupA (p.Thr3085Asnfs) rs80359752
NM_000059.3(BRCA2):c.9256+1G>A rs81002883
NM_000059.3(BRCA2):c.9257-16T>C rs11571818
NM_000059.3(BRCA2):c.9257G>C (p.Gly3086Ala) rs574271678
NM_000059.3(BRCA2):c.9270C>T (p.Phe3090=) rs587780873
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.9285C>T (p.Asp3095=) rs80359198
NM_000059.3(BRCA2):c.9292T>C (p.Tyr3098His) rs41293521
NM_000059.3(BRCA2):c.9364G>A (p.Ala3122Thr) rs587782313
NM_000059.3(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759
NM_000059.3(BRCA2):c.9433G>A (p.Val3145Met) rs587776476
NM_000059.3(BRCA2):c.943T>A (p.Cys315Ser) rs79483201
NM_000059.3(BRCA2):c.9458G>C (p.Gly3153Ala) rs80359220
NM_000059.3(BRCA2):c.9496G>A (p.Val3166Ile) rs398122615
NM_000059.3(BRCA2):c.9501+4A>G rs81002848
NM_000059.3(BRCA2):c.9501+9A>C rs81002867
NM_000059.3(BRCA2):c.956A>C (p.Asn319Thr) rs55939572
NM_000059.3(BRCA2):c.956A>G (p.Asn319Ser) rs55939572
NM_000059.3(BRCA2):c.9581C>A (p.Pro3194Gln) rs28897760
NM_000059.3(BRCA2):c.9583A>G (p.Thr3195Ala) rs80359227
NM_000059.3(BRCA2):c.9592T>C (p.Cys3198Arg) rs80359229
NM_000059.3(BRCA2):c.9593G>A (p.Cys3198Tyr) rs587782435
NM_000059.3(BRCA2):c.9605C>T (p.Pro3202Leu) rs397507432
NM_000059.3(BRCA2):c.9634G>C (p.Gly3212Arg) rs55775473
NM_000059.3(BRCA2):c.9637A>G (p.Asn3213Asp) rs80359235
NM_000059.3(BRCA2):c.9649-19G>A rs11571830
NM_000059.3(BRCA2):c.9649-20C>T rs56177715
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.9699_9702del (p.Cys3233fs) rs80359775
NM_000059.3(BRCA2):c.971G>A (p.Arg324Lys) rs397507435
NM_000059.3(BRCA2):c.9720T>C (p.Val3240=) rs80359810
NM_000059.3(BRCA2):c.9728C>T (p.Pro3243Leu) rs80359241
NM_000059.3(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831
NM_000059.3(BRCA2):c.9770A>G (p.Lys3257Arg) rs55847618
NM_000059.3(BRCA2):c.978C>A (p.Ser326Arg) rs28897706
NM_000059.3(BRCA2):c.9837A>G (p.Leu3279=) rs730881598
NM_000059.3(BRCA2):c.9839C>A (p.Pro3280His) rs80359246
NM_000059.3(BRCA2):c.9843A>G (p.Pro3281=) rs11571832
NM_000059.3(BRCA2):c.9864A>G (p.Thr3288=) rs778401681
NM_000059.3(BRCA2):c.9876G>A (p.Pro3292=) rs369047997
NM_000059.3(BRCA2):c.9905G>A (p.Arg3302Lys) rs80359249
NM_000059.3(BRCA2):c.9924C>T (p.Tyr3308=) rs4987049
NM_000059.3(BRCA2):c.9925G>T (p.Glu3309Ter) rs80359251
NM_000059.3(BRCA2):c.9934A>G (p.Ile3312Val) rs80359254
NM_000059.3(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833
NM_000059.3(BRCA2):c.9997C>G (p.Leu3333Val) rs567476314
NM_000060.2(BTD):c.933delT (p.Ser311Argfs) rs397514395
NM_000060.3(BTD):c.310-15delT rs587783008
NM_000070.2(CAPN3):c.1319G>A rs376107921
NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del) rs863224965
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu) rs749863676
NM_000070.3(CAPN3):c.1063C>T (p.Arg355Trp) rs749099493
NM_000070.3(CAPN3):c.1069C>T (p.Arg357Trp) rs774273767
NM_000070.3(CAPN3):c.1070G>A (p.Arg357Gln) rs988027905
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000070.3(CAPN3):c.1194-9A>G rs374665929
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met) rs200646556
NM_000070.3(CAPN3):c.1296_1297TG[1] (p.Val433fs) rs1293496023
NM_000070.3(CAPN3):c.1302C>T (p.Asn434=) rs751429914
NM_000070.3(CAPN3):c.1309C>T (p.Arg437Cys) rs777483913
NM_000070.3(CAPN3):c.1318C>T (p.Arg440Trp) rs777323132
NM_000070.3(CAPN3):c.1333G>A (p.Gly445Arg) rs773827877
NM_000070.3(CAPN3):c.133G>A (p.Ala45Thr) rs774048743
NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys) rs776043976
NM_000070.3(CAPN3):c.1343G>A (p.Arg448His) rs863224956
NM_000070.3(CAPN3):c.1381C>T (p.Arg461Cys) rs1274808359
NM_000070.3(CAPN3):c.1435A>G (p.Ser479Gly) rs201736037
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys) rs794726871
NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln) rs147764579
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp) rs141656719
NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln) rs121434548
NM_000070.3(CAPN3):c.1477C>T (p.Arg493Trp) rs557164942
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr) rs148044781
NM_000070.3(CAPN3):c.1517T>C (p.Ile506Thr) rs1555422136
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp) rs142004418
NM_000070.3(CAPN3):c.1622G>A (p.Arg541Gln) rs398123143
NM_000070.3(CAPN3):c.1636C>T (p.Arg546Cys) rs372438001
NM_000070.3(CAPN3):c.1657G>A (p.Glu553Lys) rs767739787
NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln) rs121434544
NM_000070.3(CAPN3):c.1743_1744del (p.Glu582fs) rs886042573
NM_000070.3(CAPN3):c.1746-20C>G rs201892814
NM_000070.3(CAPN3):c.1795dup (p.Thr599fs) rs80338803
NM_000070.3(CAPN3):c.1801-1G>A rs886043752
NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu) rs199806879
NM_000070.3(CAPN3):c.1818G>A (p.Ser606=) rs28364528
NM_000070.3(CAPN3):c.1993-1G>A rs369552114
NM_000070.3(CAPN3):c.2088C>T (p.Ser696=) rs867628179
NM_000070.3(CAPN3):c.2092C>T (p.Arg698Cys) rs764370512
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly) rs200379491
NM_000070.3(CAPN3):c.2148G>T (p.Glu716Asp) rs770894443
NM_000070.3(CAPN3):c.2185-2A>G rs886041335
NM_000070.3(CAPN3):c.2205_2206CA[1] (p.Thr736fs) rs587780289
NM_000070.3(CAPN3):c.2230A>G (p.Ser744Gly) rs750083132
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln) rs587780290
NM_000070.3(CAPN3):c.2255_2257ACG[1] (p.Asp753del) rs886043333
NM_000070.3(CAPN3):c.2257G>A (p.Asp753Asn) rs146923842
NM_000070.3(CAPN3):c.2279dup (p.Asn760fs) rs775130589
NM_000070.3(CAPN3):c.2290del (p.Asp764fs) rs886044527
NM_000070.3(CAPN3):c.2306G>A (p.Arg769Gln) rs80338802
NM_000070.3(CAPN3):c.2329A>G (p.Ile777Val) rs149969786
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn) rs115311625
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His) rs778768583
NM_000070.3(CAPN3):c.2381-2A>G rs863224962
NM_000070.3(CAPN3):c.2393C>A (p.Ala798Glu) rs149095128
NM_000070.3(CAPN3):c.2440-1G>A rs886044052
NM_000070.3(CAPN3):c.245C>T (p.Pro82Leu) rs886042478
NM_000070.3(CAPN3):c.327_328dup (p.Arg110fs) rs797045427
NM_000070.3(CAPN3):c.338T>C (p.Ile113Thr) rs747026964
NM_000070.3(CAPN3):c.402del (p.Ile135fs) rs746935735
NM_000070.3(CAPN3):c.503G>A (p.Trp168Ter) rs1555420462
NM_000070.3(CAPN3):c.509A>G (p.Tyr170Cys) rs1555420468
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800
NM_000070.3(CAPN3):c.580del (p.Ser194fs) rs398123149
NM_000070.3(CAPN3):c.59del (p.Pro20fs) rs1555417271
NM_000070.3(CAPN3):c.701G>A (p.Gly234Glu) rs1555420634
NM_000070.3(CAPN3):c.717del (p.Phe239fs) rs776059672
NM_000070.3(CAPN3):c.741_751del (p.Met248fs) rs1555420647
NM_000070.3(CAPN3):c.802-9G>A rs761211705
NM_000070.3(CAPN3):c.865C>T (p.Arg289Trp) rs528417986
NM_000070.3(CAPN3):c.946-1_948del rs766156798
NM_000070.3(CAPN3):c.956C>T (p.Pro319Leu) rs121434547
NM_000070.3(CAPN3):c.985G>C (p.Gly329Arg) rs1085307995
NM_000071.2(CBS):c.1006C>T (p.Arg336Cys) rs398123151
NM_000071.2(CBS):c.1007G>A (p.Arg336His) rs760417941
NM_000071.2(CBS):c.1039G>A (p.Gly347Ser) rs771298943
NM_000071.2(CBS):c.1058C>T (p.Thr353Met) rs121964972
NM_000071.2(CBS):c.1111G>A (p.Val371Met) rs372010465
NM_000071.2(CBS):c.1136G>A (p.Arg379Gln) rs763036586
NM_000071.2(CBS):c.1218del (p.Lys406fs) rs794727083
NM_000071.2(CBS):c.1221del (p.Trp408fs) rs1361324844
NM_000071.2(CBS):c.1265C>T (p.Pro422Leu) rs28934892
NM_000071.2(CBS):c.1316G>A (p.Arg439Gln) rs756467921
NM_000071.2(CBS):c.1330G>A (p.Asp444Asn) rs28934891
NM_000071.2(CBS):c.1397C>T (p.Ser466Leu) rs121964971
NM_000071.2(CBS):c.146C>T (p.Pro49Leu) rs148865119
NM_000071.2(CBS):c.1496_1497TC[1] (p.Ser500fs) rs1555871188
NM_000071.2(CBS):c.1553-1G>C rs1555869979
NM_000071.2(CBS):c.1553-2A>C rs760609383
NM_000071.2(CBS):c.1616T>C (p.Leu539Ser) rs121964968
NM_000071.2(CBS):c.162G>A (p.Trp54Ter) rs199948079
NM_000071.2(CBS):c.28del (p.Val10fs) rs779250698
NM_000071.2(CBS):c.302T>C (p.Leu101Pro) rs786204757
NM_000071.2(CBS):c.325T>C (p.Cys109Arg) rs778220779
NM_000071.2(CBS):c.341C>T (p.Ala114Val) rs121964964
NM_000071.2(CBS):c.374G>A (p.Arg125Gln) rs781444670
NM_000071.2(CBS):c.430G>A (p.Glu144Lys) rs121964966
NM_000071.2(CBS):c.536_553del (p.Asp179_Leu184del) rs794727835
NM_000071.2(CBS):c.667-14_667-7del rs764160782
NM_000071.2(CBS):c.689del (p.Leu230fs) rs775351239
NM_000071.2(CBS):c.737-1G>C rs757428597
NM_000071.2(CBS):c.738delG rs766453711
NM_000071.2(CBS):c.770C>T (p.Thr257Met) rs758236584
NM_000071.2(CBS):c.785C>T (p.Thr262Met) rs149119723
NM_000071.2(CBS):c.797G>A (p.Arg266Lys) rs121964969
NM_000071.2(CBS):c.828+1G>A rs763290176
NM_000071.2(CBS):c.959T>C (p.Val320Ala) rs781567152
NM_000075.4(CDK4):c.122A>G (p.Asn41Ser) rs144890720
NM_000075.4(CDK4):c.306A>G (p.Thr102=) rs201202764
NM_000075.4(CDK4):c.549C>T (p.Pro183=) rs778696237
NM_000075.4(CDK4):c.625C>T (p.Arg209Cys) rs140644696
NM_000075.4(CDK4):c.661G>A (p.Asp221Asn) rs587778187
NM_000075.4(CDK4):c.70C>T (p.Arg24Cys) rs11547328
NM_000075.4(CDK4):c.764G>A (p.Arg255His) rs144657355
NM_000075.4(CDK4):c.776C>T (p.Ser259Leu) rs201617914
NM_000077.4(CDKN2A):c.-14C>T rs764244718
NM_000077.4(CDKN2A):c.-25C>T rs144481587
NM_000077.4(CDKN2A):c.-2G>A rs191394143
NM_000077.4(CDKN2A):c.-34G>C rs1800586
NM_000077.4(CDKN2A):c.146T>C (p.Ile49Thr) rs199907548
NM_000077.4(CDKN2A):c.150+37G>C rs45456595
NM_000077.4(CDKN2A):c.151-14G>A rs767030551
NM_000077.4(CDKN2A):c.151-4G>C rs529380972
NM_000077.4(CDKN2A):c.174A>C (p.Arg58=) rs201208890
NM_000077.4(CDKN2A):c.176T>G (p.Val59Gly) rs104894099
NM_000077.4(CDKN2A):c.273G>A (p.Leu91=) rs4987127
NM_000077.4(CDKN2A):c.301G>T (p.Gly101Trp) rs104894094
NM_000077.4(CDKN2A):c.369T>A (p.His123Gln) rs6413463
NM_000077.4(CDKN2A):c.370C>T (p.Arg124Cys) rs34170727
NM_000077.4(CDKN2A):c.373G>C (p.Asp125His) rs146179135
NM_000077.4(CDKN2A):c.377T>A (p.Val126Asp) rs104894098
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_000077.4(CDKN2A):c.442G>A (p.Ala148Thr) rs3731249
NM_000077.4(CDKN2A):c.457G>T (p.Asp153Tyr) rs45476696
NM_000077.4(CDKN2A):c.71G>C (p.Arg24Pro) rs104894097
NM_000082.3(ERCC8):c.1042-1G>A rs897535441
NM_000082.3(ERCC8):c.1042-2A>G rs372237310
NM_000082.3(ERCC8):c.479C>T (p.Ala160Val) rs121434325
NM_000082.3(ERCC8):c.613G>C (p.Ala205Pro) rs121434326
NM_000082.3(ERCC8):c.647_651dup (p.Arg218Ter) rs1554073177
NM_000086.2(CLN3):c.1000C>T (p.Arg334Cys) rs386833694
NM_000086.2(CLN3):c.1001G>A (p.Arg334His) rs386833695
NM_000086.2(CLN3):c.1054C>T (p.Gln352Ter) rs386833697
NM_000086.2(CLN3):c.1059C>A (p.Cys353Ter) rs1057516677
NM_000086.2(CLN3):c.1195G>T (p.Glu399Ter) rs386833701
NM_000086.2(CLN3):c.1198-1G>T rs386833702
NM_000086.2(CLN3):c.233dup (p.Thr80fs) rs386833712
NM_000086.2(CLN3):c.424del (p.Val142fs) rs386833720
NM_000086.2(CLN3):c.461-279_677+384del rs1555468632
NM_000086.2(CLN3):c.47-1G>A rs1555469477
NM_000086.2(CLN3):c.533+1G>C rs386833728
NM_000086.2(CLN3):c.558_559del (p.Gly187fs) rs386833729
NM_000086.2(CLN3):c.582G>T (p.Leu194=) rs386833734
NM_000086.2(CLN3):c.597C>A (p.Tyr199Ter) rs267606737
NM_000086.2(CLN3):c.837+5G>A rs756848924
NM_000086.2(CLN3):c.853A>G (p.Ile285Val) rs748844685
NM_000086.2(CLN3):c.883G>T (p.Glu295Ter) rs121434286
NM_000086.2(CLN3):c.906+2T>A rs771788391
NM_000086.2(CLN3):c.944dup (p.His315fs) rs386833740
NM_000091.4(COL4A3):c.1216C>T (p.Arg406Ter) rs371334239
NM_000091.4(COL4A3):c.172G>A (p.Gly58Ser) rs184730597
NM_000091.4(COL4A3):c.2371C>T (p.Arg791Ter) rs1060499654
NM_000091.4(COL4A3):c.2417dup (p.Gly807fs) rs1440033157
NM_000091.4(COL4A3):c.2452G>A (p.Gly818Arg) rs868002181
NM_000091.4(COL4A3):c.2954G>T (p.Gly985Val) rs121912827
NM_000091.4(COL4A3):c.3499G>A (p.Gly1167Arg) rs267606745
NM_000091.4(COL4A3):c.352G>A (p.Gly118Arg) rs1293137291
NM_000091.4(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500
NM_000091.4(COL4A3):c.391G>T (p.Glu131Ter) rs1346138010
NM_000091.4(COL4A3):c.443G>T (p.Gly148Val) rs775373641
NM_000091.4(COL4A3):c.4571C>G (p.Ser1524Ter) rs121912825
NM_000091.4(COL4A3):c.4793T>G (p.Leu1598Arg) rs752452590
NM_000091.4(COL4A3):c.4803del (p.Gly1602fs) rs760846085
NM_000091.4(COL4A3):c.4825C>T (p.Arg1609Ter) rs756231749
NM_000091.4(COL4A3):c.4994G>A (p.Cys1665Tyr) rs376550779
NM_000091.4(COL4A3):c.5010_*14del (p.His1670_Ter1671delinsXaa) rs765655100
NM_000091.4(COL4A3):c.765G>A (p.Thr255=) rs869025328
NM_000092.4(COL4A4):c.1118G>A (p.Gly373Glu) rs755649235
NM_000092.4(COL4A4):c.1396G>A (p.Gly466Arg) rs201859109
NM_000092.4(COL4A4):c.2279dup (p.Asp761fs) rs1553643669
NM_000092.4(COL4A4):c.2690G>A (p.Gly897Glu) rs121912860
NM_000092.4(COL4A4):c.2878G>A (p.Gly960Arg) rs769783985
NM_000092.4(COL4A4):c.3734G>T (p.Gly1245Val) rs1189502123
NM_000092.4(COL4A4):c.4394G>A (p.Gly1465Asp) rs533297350
NM_000092.4(COL4A4):c.4599T>G (p.Tyr1533Ter) rs369922627
NM_000092.4(COL4A4):c.5044C>T (p.Arg1682Trp) rs766550724
NM_000092.4(COL4A4):c.594+1G>A rs1553690565
NM_000098.3(CPT2):c.1025T>C (p.Met342Thr) rs144658100
NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr) rs74315295
NM_000098.3(CPT2):c.1345delinsTA (p.Gln449Ter) rs1057517525
NM_000098.3(CPT2):c.1369A>T (p.Lys457Ter) rs756931329
NM_000098.3(CPT2):c.1634A>C (p.Glu545Ala) rs17848485
NM_000098.3(CPT2):c.1657G>A (p.Asp553Asn) rs28936376
NM_000098.3(CPT2):c.1883A>C (p.Tyr628Ser) rs28936673
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294
NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys) rs121918528
NM_000098.3(CPT2):c.370C>T (p.Arg124Ter) rs201065226
NM_000098.3(CPT2):c.452G>A (p.Arg151Gln) rs515726177
NM_000098.3(CPT2):c.520G>A (p.Glu174Lys) rs28936674
NM_000098.3(CPT2):c.680C>T (p.Pro227Leu) rs74315298
NM_000098.3(CPT2):c.852del (p.Glu285fs) rs1057517729
NM_000098.3(CPT2):c.886C>T (p.Arg296Ter) rs727503887
NM_000098.3(CPT2):c.98del (p.Gln33fs) rs917744011
NM_000108.5(DLD):c.104dup (p.Tyr35Ter) rs753234219
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys) rs121964992
NM_000108.5(DLD):c.112C>T (p.Gln38Ter) rs1057516698
NM_000108.5(DLD):c.161A>G (p.Tyr54Cys) rs763303046
NM_000108.5(DLD):c.803_804del (p.Gln268fs) rs764611160
NM_000109.4(DMD):c.1700T>C (p.Leu567Pro) rs370644567
NM_000110.3(DPYD):c.1679T>G (p.Ile560Ser) rs55886062
NM_000110.3(DPYD):c.1905+1G>A rs3918290
NM_000110.3(DPYD):c.2275C>T (p.Arg759Ter) rs759372918
NM_000110.3(DPYD):c.2303C>A (p.Thr768Lys) rs56005131
NM_000110.3(DPYD):c.2657G>A (p.Arg886His) rs1801267
NM_000110.3(DPYD):c.2846A>T (p.Asp949Val) rs67376798
NM_000110.3(DPYD):c.557A>G (p.Tyr186Cys) rs115232898
NM_000110.3(DPYD):c.661G>T (p.Glu221Ter) rs146170505
NM_000110.3(DPYD):c.763-2A>G rs1300669537
NM_000112.3(SLC26A2):c.-26+2T>C rs386833492
NM_000112.3(SLC26A2):c.1020_1022delTGT rs121908077
NM_000112.3(SLC26A2):c.1394del (p.Leu465fs) rs386833495
NM_000112.3(SLC26A2):c.1474C>T (p.Arg492Trp) rs78676079
NM_000112.3(SLC26A2):c.1650del (p.Ser551fs) rs386833497
NM_000112.3(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924
NM_000112.3(SLC26A2):c.1976del (p.Phe658_Leu659insTer) rs386833499
NM_000112.3(SLC26A2):c.2033G>T (p.Gly678Val) rs104893916
NM_000112.3(SLC26A2):c.2144C>T (p.Ala715Val) rs104893918
NM_000112.3(SLC26A2):c.391del (p.Leu131fs) rs786200881
NM_000112.3(SLC26A2):c.532C>T (p.Arg178Ter) rs104893919
NM_000112.3(SLC26A2):c.700-1G>C rs200963884
NM_000112.3(SLC26A2):c.764G>A (p.Gly255Glu) rs104893917
NM_000112.3(SLC26A2):c.835C>T (p.Arg279Trp) rs104893915
NM_000124.4(ERCC6):c.1009A>T (p.Lys337Ter) rs1198241866
NM_000124.4(ERCC6):c.1062T>C (p.Pro354=) rs764159237
NM_000124.4(ERCC6):c.1482C>T (p.Asp494=) rs150762517
NM_000124.4(ERCC6):c.1526+1G>T rs371739894
NM_000124.4(ERCC6):c.1834C>T (p.Arg612Ter) rs376526037
NM_000124.4(ERCC6):c.2047C>T (p.Arg683Ter) rs121917904
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter) rs151242354
NM_000124.4(ERCC6):c.2551T>C (p.Trp851Arg) rs368728467
NM_000124.4(ERCC6):c.2599-26A>G rs4253196
NM_000124.4(ERCC6):c.2839C>T (p.Arg947Ter) rs906755254
NM_000124.4(ERCC6):c.3412dup (p.Thr1138fs) rs786205170
NM_000124.4(ERCC6):c.3453A>G (p.Leu1151=) rs771604820
NM_000124.4(ERCC6):c.3480C>G (p.Pro1160=) rs886047034
NM_000124.4(ERCC6):c.3536del (p.Tyr1179fs) rs786205171
NM_000124.4(ERCC6):c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA (p.Lys1203fs) rs786205172
NM_000124.4(ERCC6):c.466C>T (p.Gln156Ter) rs751838040
NM_000124.4(ERCC6):c.643G>T (p.Glu215Ter) rs875989810
NM_000128.3(F11):c.1107C>A (p.Tyr369Ter) rs773905328
NM_000128.3(F11):c.1136-7_1136-4del rs1439195599
NM_000128.3(F11):c.1234C>T (p.Gln412Ter) rs538083600
NM_000128.3(F11):c.1247G>A (p.Cys416Tyr) rs779802284
NM_000128.3(F11):c.1253G>T (p.Gly418Val) rs121965071
NM_000128.3(F11):c.1432G>A (p.Gly478Arg) rs542967227
NM_000128.3(F11):c.1481-1G>T rs1057516506
NM_000128.3(F11):c.1556G>A (p.Trp519Ter) rs201007090
NM_000128.3(F11):c.166T>C (p.Cys56Arg) rs121965069
NM_000128.3(F11):c.302A>G (p.Lys101Arg) rs281875272
NM_000128.3(F11):c.400C>T (p.Gln134Ter) rs756908183
NM_000128.3(F11):c.408C>A (p.Cys136Ter) rs143648758
NM_000128.3(F11):c.449C>T (p.Thr150Met) rs1340928778
NM_000128.3(F11):c.599G>A (p.Cys200Tyr) rs757817254
NM_000128.3(F11):c.67C>T (p.Gln23Ter) rs768409400
NM_000128.3(F11):c.755+2T>C rs1220869989
NM_000128.3(F11):c.809A>T (p.Lys270Ile) rs121965070
NM_000128.3(F11):c.901T>C (p.Phe301Leu) rs121965064
NM_000135.2(FANCA):c.3788_3790delTCT (p.Phe1263del) rs397507553
NM_000135.4(FANCA):c.1028_1029AG[3] (p.Glu345fs) rs769580546
NM_000135.4(FANCA):c.1111_1114TTGG[1] (p.Val372fs) rs397507552
NM_000135.4(FANCA):c.1226-2A>G rs773906241
NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys) rs148473140
NM_000135.4(FANCA):c.1A>G (p.Met1Val) rs772751654
NM_000135.4(FANCA):c.2107C>T (p.Gln703Ter) rs1555548512
NM_000135.4(FANCA):c.2216C>T (p.Pro739Leu) rs45441106
NM_000135.4(FANCA):c.2398G>T (p.Glu800Ter) rs1555547474
NM_000135.4(FANCA):c.2529C>A (p.Tyr843Ter) rs1247378731
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter) rs752160950
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398
NM_000135.4(FANCA):c.2738A>C (p.His913Pro) rs1302083447
NM_000135.4(FANCA):c.283+1G>T rs1232171121
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp) rs755546887
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln) rs755922289
NM_000135.4(FANCA):c.2859C>A (p.Asp953Glu) rs149112292
NM_000135.4(FANCA):c.2910del (p.Gly972fs) rs1278836130
NM_000135.4(FANCA):c.3066+1G>T rs587783028
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp) rs753063086
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly) rs149277003
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val) rs138417003
NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met) rs142833057
NM_000135.4(FANCA):c.3602_3604AAG[1] (p.Glu1202del) rs1380850249
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe) rs753700179
NM_000135.4(FANCA):c.3G>T (p.Met1Ile) rs1555581729
NM_000135.4(FANCA):c.4261-2A>C rs915983602
NM_000135.4(FANCA):c.623C>T (p.Ser208Leu) rs144420697
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter) rs761341952
NM_000135.4(FANCA):c.709+5G>A rs759877008
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter) rs1291524243
NM_000135.4(FANCA):c.863_866dup (p.Ser290fs) rs1348367722
NM_000135.4(FANCA):c.912_913AC[2] (p.Thr306fs) rs764122657
NM_000135.4(FANCA):c.971T>G (p.Leu324Arg) rs1447363475
NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter) rs759900071
NM_000136.3(FANCC):c.1073-4G>A rs147695697
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter) rs371897078
NM_000136.3(FANCC):c.1290C>A (p.Tyr430Ter) rs766105286
NM_000136.3(FANCC):c.1302dup (p.Gly435fs) rs730881709
NM_000136.3(FANCC):c.1333C>T (p.Gln445Ter) rs1057516298
NM_000136.3(FANCC):c.1385_1386TC[1] (p.Ala464fs) rs730881710
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) rs104886458
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter) rs370974124
NM_000136.3(FANCC):c.339G>A (p.Trp113Ter) rs1057516291
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) rs121917784
NM_000136.3(FANCC):c.3G>T (p.Met1Ile) rs1368374192
NM_000136.3(FANCC):c.455dup (p.Asn152fs) rs774170058
NM_000136.3(FANCC):c.457-7T>C rs749994612
NM_000136.3(FANCC):c.485_486GA[1] (p.Glu163fs) rs730881708
NM_000136.3(FANCC):c.485_486GA[2] (p.Asn164fs) rs730881708
NM_000136.3(FANCC):c.520C>T (p.Arg174Ter) rs781542763
NM_000136.3(FANCC):c.522-4A>G rs371422485
NM_000136.3(FANCC):c.535C>T (p.Arg179Ter) rs769039987
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter) rs377294947
NM_000136.3(FANCC):c.843+5G>A rs369082921
NM_000136.3(FANCC):c.844-10_844-8del rs758617953
NM_000136.3(FANCC):c.844-1G>C rs774209201
NM_000136.3(FANCC):c.897-8T>C rs878853673
NM_000137.3(FAH):c.1009G>A (p.Gly337Ser) rs80338900
NM_000137.3(FAH):c.1062+5G>A rs80338901
NM_000137.3(FAH):c.1069G>T (p.Glu357Ter) rs121965075
NM_000137.3(FAH):c.107T>C (p.Ile36Thr) rs774648934
NM_000137.3(FAH):c.192+1G>T rs786204683
NM_000137.3(FAH):c.192G>T (p.Gln64His) rs80338894
NM_000137.3(FAH):c.1A>G (p.Met1Val) rs1057517972
NM_000137.3(FAH):c.398A>T (p.His133Leu) rs775152764
NM_000137.3(FAH):c.401C>A (p.Ala134Asp) rs121965074
NM_000137.3(FAH):c.456G>A (p.Trp152Ter) rs370686447
NM_000137.3(FAH):c.520C>T (p.Arg174Ter) rs781496816
NM_000137.3(FAH):c.553+2_553+3del rs1555441272
NM_000137.3(FAH):c.554-1G>T rs80338895
NM_000137.3(FAH):c.607-6T>G rs80338896
NM_000137.3(FAH):c.696C>T (p.Asn232=) rs533540262
NM_000137.3(FAH):c.706+2T>G rs1555441597
NM_000137.3(FAH):c.707-7_707-5del rs779284513
NM_000137.3(FAH):c.782C>T (p.Pro261Leu) rs80338898
NM_000137.3(FAH):c.786G>A (p.Trp262Ter) rs80338899
NM_000137.3(FAH):c.81+2T>A rs772895065
NM_000137.3(FAH):c.963C>A (p.Tyr321Ter) rs886044640
NM_000151.4(G6PC):c.113A>T (p.Asp38Val) rs104894565
NM_000151.4(G6PC):c.14T>G (p.Met5Arg) rs1250172816
NM_000151.4(G6PC):c.150_151del (p.Trp50fs) rs1057516674
NM_000151.4(G6PC):c.161A>C (p.Gln54Pro) rs1057517008
NM_000151.4(G6PC):c.229T>C (p.Trp77Arg) rs104894566
NM_000151.4(G6PC):c.258G>A (p.Trp86Ter) rs142917638
NM_000151.4(G6PC):c.328G>A (p.Glu110Lys) rs104894567
NM_000151.4(G6PC):c.377_378TA[3] (p.Tyr128fs) rs80356488
NM_000151.4(G6PC):c.562G>A (p.Gly188Ser) rs80356482
NM_000151.4(G6PC):c.646C>T (p.Leu216=) rs749665480
NM_000151.4(G6PC):c.648G>T (p.Leu216=) rs80356484
NM_000151.4(G6PC):c.724C>T (p.Gln242Ter) rs80356485
NM_000151.4(G6PC):c.809G>T (p.Gly270Val) rs80356483
NM_000151.4(G6PC):c.883C>T (p.Arg295Cys) rs104894563
NM_000151.4(G6PC):c.943C>G (p.Pro315Ala) rs143321486
NM_000151.4(G6PC):c.965T>A (p.Phe322Tyr) rs863224022
NM_000151.4(G6PC):c.969C>A (p.Tyr323Ter) rs780226142
NM_000151.4(G6PC):c.980_982del (p.Phe327del) rs80356486
NM_000152.5(GAA):c.-32-13T>G rs386834236
NM_000152.5(GAA):c.1051del (p.Val351fs) rs786204507
NM_000152.5(GAA):c.1099T>C (p.Trp367Arg) rs1555600061
NM_000152.5(GAA):c.1124G>T (p.Arg375Leu) rs142752477
NM_000152.5(GAA):c.1128_1129delinsC (p.Trp376fs) rs786204646
NM_000152.5(GAA):c.1143del (p.Ala382fs) rs757458607
NM_000152.5(GAA):c.1193del (p.Leu398fs) rs1057517286
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys) rs770610356
NM_000152.5(GAA):c.1316T>A (p.Met439Lys) rs747610090
NM_000152.5(GAA):c.1378G>A (p.Glu460Lys) rs771213237
NM_000152.5(GAA):c.1438-1G>C rs147804176
NM_000152.5(GAA):c.1438-2A>G rs1555600730
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg) rs772883420
NM_000152.5(GAA):c.1447G>A (p.Gly483Arg) rs770590394
NM_000152.5(GAA):c.1465G>A (p.Asp489Asn) rs398123169
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu) rs148842275
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter) rs140826989
NM_000152.5(GAA):c.1552-3C>G rs375470378
NM_000152.5(GAA):c.1556T>C (p.Met519Thr) rs786204720
NM_000152.5(GAA):c.1561G>A (p.Glu521Lys) rs121907937
NM_000152.5(GAA):c.1564C>G (p.Pro522Ala) rs892129065
NM_000152.5(GAA):c.169C>T (p.Gln57Ter) rs1057516251
NM_000152.5(GAA):c.1735G>A (p.Glu579Lys) rs991082382
NM_000152.5(GAA):c.1799G>A (p.Arg600His) rs377544304
NM_000152.5(GAA):c.1826dup (p.Tyr609Ter) rs786204727
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer) rs781088002
NM_000152.5(GAA):c.1841C>A (p.Thr614Lys) rs369531647
NM_000152.5(GAA):c.1843G>A (p.Gly615Arg) rs549029029
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn) rs368438393
NM_000152.5(GAA):c.1935C>A (p.Asp645Glu) rs28940868
NM_000152.5(GAA):c.1941C>G (p.Cys647Trp) rs776948121
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser) rs536906561
NM_000152.5(GAA):c.1978C>T (p.Arg660Cys) rs759518659
NM_000152.5(GAA):c.1979G>A (p.Arg660His) rs374143224
NM_000152.5(GAA):c.2015G>A (p.Arg672Gln) rs778418246
NM_000152.5(GAA):c.2104C>T (p.Arg702Cys) rs786204645
NM_000152.5(GAA):c.2105G>A (p.Arg702His) rs398123172
NM_000152.5(GAA):c.2140del (p.His714fs) rs786204549
NM_000152.5(GAA):c.2185del (p.Leu729fs) rs1057516581
NM_000152.5(GAA):c.2227C>T (p.Gln743Ter) rs1057516277
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg) rs1479740763
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser) rs752921215
NM_000152.5(GAA):c.2238G>A (p.Trp746Ter) rs1800312
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000152.5(GAA):c.2242dup (p.Glu748fs) rs777275355
NM_000152.5(GAA):c.2281delinsAT (p.Ala761fs) rs1057516924
NM_000152.5(GAA):c.2316G>T (p.Trp772Cys) rs1057524664
NM_000152.5(GAA):c.2367dup (p.Pro790fs) rs1555602860
NM_000152.5(GAA):c.2499_2500CA[1] (p.Thr834fs) rs886043343
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) rs121907943
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter) rs780321415
NM_000152.5(GAA):c.2647-23del rs749000061
NM_000152.5(GAA):c.525del (p.Glu176fs) rs386834235
NM_000152.5(GAA):c.546+5G>T rs756024023
NM_000152.5(GAA):c.546G>A (p.Thr182=) rs143523371
NM_000152.5(GAA):c.569G>A (p.Arg190His) rs528367092
NM_000152.5(GAA):c.655G>A (p.Gly219Arg) rs370950728
NM_000152.5(GAA):c.668G>A (p.Arg223His) rs1042395
NM_000152.5(GAA):c.670C>T (p.Arg224Trp) rs757700700
NM_000152.5(GAA):c.710C>T (p.Ala237Val) rs121907944
NM_000152.5(GAA):c.736del (p.Leu246fs) rs886043920
NM_000152.5(GAA):c.752C>T (p.Ser251Leu) rs200856561
NM_000152.5(GAA):c.761C>T (p.Ser254Leu) rs577915581
NM_000152.5(GAA):c.766_785delinsC (p.Tyr256fs) rs786204532
NM_000152.5(GAA):c.784G>A (p.Glu262Lys) rs201896815
NM_000152.5(GAA):c.853C>T (p.Pro285Ser) rs886042086
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys) rs1057516600
NM_000152.5(GAA):c.971C>T (p.Pro324Leu) rs750030887
NM_000153.3(GALC):c.243_244dup (p.Ile82Argfs) rs886043419
NM_000153.4(GALC):c.1006G>A (p.Val336Met) rs185073540
NM_000153.4(GALC):c.1186C>T (p.Arg396Trp) rs770485731
NM_000153.4(GALC):c.1468T>A (p.Tyr490Asn) rs202135871
NM_000153.4(GALC):c.1543G>A (p.Glu515Lys) rs794727116
NM_000153.4(GALC):c.1586C>T (p.Thr529Met) rs200960659
NM_000153.4(GALC):c.1592G>A (p.Arg531His) rs200378205
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser) rs752537626
NM_000153.4(GALC):c.1890T>A (p.Tyr630Ter) rs1057516453
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser) rs138577661
NM_000153.4(GALC):c.195+15G>A rs748140458
NM_000153.4(GALC):c.195G>C (p.Gly65=) rs886042057
NM_000153.4(GALC):c.1987T>G (p.Trp663Gly) rs1060499761
NM_000153.4(GALC):c.205C>T (p.Arg69Ter) rs771111145
NM_000153.4(GALC):c.266C>T (p.Pro89Leu) rs201422931
NM_000153.4(GALC):c.349A>G (p.Met117Val) rs145580093
NM_000153.4(GALC):c.411_413del (p.Lys139del) rs1555383687
NM_000153.4(GALC):c.433dup (p.Thr145fs) rs1555383679
NM_000153.4(GALC):c.450A>T (p.Pro150=) rs886050866
NM_000153.4(GALC):c.599C>A (p.Ser200Ter) rs786204618
NM_000153.4(GALC):c.621G>A (p.Lys207=) rs1428763453
NM_000153.4(GALC):c.628A>T (p.Arg210Ter) rs202131052
NM_000153.4(GALC):c.658C>T (p.Arg220Ter) rs766310671
NM_000153.4(GALC):c.850G>A (p.Gly284Ser) rs377274761
NM_000153.4(GALC):c.857G>A (p.Gly286Asp) rs199847983
NM_000153.4(GALC):c.908C>T (p.Ser303Phe) rs756352952
NM_000153.4(GALC):c.946C>T (p.Gln316Ter) rs776368825
NM_000153.4(GALC):c.955del (p.Tyr319fs) rs786204454
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855
NM_000153.4(GALC):c.972del (p.Leu324_Met325insTer) rs1057516808
NM_000154.2(GALK1):c.410dup (p.Gly138fs) rs767329054
NM_000154.2(GALK1):c.593C>T (p.Ala198Val) rs80084721
NM_000154.2(GALK1):c.863C>T (p.Thr288Met) rs759284637
NM_000154.2(GALK1):c.94G>A (p.Val32Met) rs104894576
NM_000155.4(GALT):c.1006A>T (p.Met336Leu) rs111033810
NM_000155.4(GALT):c.100T>A (p.Tyr34Asn) rs111033836
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys) rs111033814
NM_000155.4(GALT):c.1052del (p.Pro351fs) rs111033813
NM_000155.4(GALT):c.1057C>T (p.Gln353Ter) rs111033818
NM_000155.4(GALT):c.1059+24G>A rs111033840
NM_000155.4(GALT):c.1060-1G>A rs367543268
NM_000155.4(GALT):c.1132A>G (p.Ile378Val) rs111033819
NM_000155.4(GALT):c.1140A>C (p.Ter380Cys) rs111033827
NM_000155.4(GALT):c.152G>A (p.Arg51Gln) rs111033648
NM_000155.4(GALT):c.197C>T (p.Pro66Leu) rs111033656
NM_000155.4(GALT):c.238C>T (p.Arg80Ter) rs111033664
NM_000155.4(GALT):c.247G>A (p.Gly83Arg) rs111033660
NM_000155.4(GALT):c.25C>T (p.Gln9Ter) rs111033848
NM_000155.4(GALT):c.27G>C (p.Gln9His) rs111033637
NM_000155.4(GALT):c.292G>A (p.Asp98Asn) rs111033670
NM_000155.4(GALT):c.292G>C (p.Asp98His) rs111033670
NM_000155.4(GALT):c.307C>T (p.Gln103Ter) rs1225091358
NM_000155.4(GALT):c.329-2A>C rs111033667
NM_000155.4(GALT):c.379A>G (p.Lys127Glu) rs111033682
NM_000155.4(GALT):c.389G>A (p.Cys130Tyr) rs367543255
NM_000155.4(GALT):c.394C>T (p.His132Tyr) rs111033688
NM_000155.4(GALT):c.404C>G (p.Ser135Trp) rs111033690
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690
NM_000155.4(GALT):c.413C>T (p.Thr138Met) rs111033686
NM_000155.4(GALT):c.41delinsTT (p.Ala14fs) rs111033634
NM_000155.4(GALT):c.443G>A (p.Arg148Gln) rs111033694
NM_000155.4(GALT):c.450T>A (p.Val150=) rs886063884
NM_000155.4(GALT):c.452T>C (p.Val151Ala) rs111033701
NM_000155.4(GALT):c.496C>G (p.Pro166Ala) rs367543257
NM_000155.4(GALT):c.502G>T (p.Val168Leu) rs367543258
NM_000155.4(GALT):c.508-29del rs111033711
NM_000155.4(GALT):c.512T>C (p.Phe171Ser) rs111033715
NM_000155.4(GALT):c.547C>A (p.Pro183Thr) rs111033721
NM_000155.4(GALT):c.552C>A (p.His184Gln) rs111033717
NM_000155.4(GALT):c.554C>T (p.Pro185Leu) rs111033722
NM_000155.4(GALT):c.564+1G>A rs111033723
NM_000155.4(GALT):c.565-2A>G rs111033731
NM_000155.4(GALT):c.602G>A (p.Arg201His) rs111033735
NM_000155.4(GALT):c.607G>A (p.Glu203Lys) rs111033736
NM_000155.4(GALT):c.610C>T (p.Arg204Ter) rs111033737
NM_000155.4(GALT):c.619C>T (p.Gln207Ter) rs111033743
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys) rs111033744
NM_000155.4(GALT):c.634C>T (p.Gln212Ter) rs111033746
NM_000155.4(GALT):c.652C>G (p.Leu218Val) rs2070075
NM_000155.4(GALT):c.652del (p.Leu217_Leu218insTer) rs111033742
NM_000155.4(GALT):c.676C>G (p.Leu226Val) rs111033751
NM_000155.4(GALT):c.691C>T (p.Arg231Cys) rs111033749
NM_000155.4(GALT):c.752A>G (p.Tyr251Cys) rs111033755
NM_000155.4(GALT):c.772C>T (p.Arg258Cys) rs368166217
NM_000155.4(GALT):c.775C>T (p.Arg259Trp) rs786204763
NM_000155.4(GALT):c.776G>A (p.Arg259Gln) rs886042070
NM_000155.4(GALT):c.814C>T (p.Arg272Cys) rs111033766
NM_000155.4(GALT):c.815G>A (p.Arg272His) rs111033831
NM_000155.4(GALT):c.820+13A>G rs111033768
NM_000155.4(GALT):c.821-46G>T rs111033776
NM_000155.4(GALT):c.857A>G (p.Tyr286Cys) rs367543262
NM_000155.4(GALT):c.864C>T (p.Asn288=) rs372134800
NM_000155.4(GALT):c.883C>A (p.Pro295Thr) rs111033783
NM_000155.4(GALT):c.938G>A (p.Trp313Ter) rs1410159094
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000155.4(GALT):c.947G>A (p.Trp316Ter) rs111033790
NM_000155.4(GALT):c.957C>A (p.His319Gln) rs111033792
NM_000155.4(GALT):c.957C>T (p.His319=) rs111033792
NM_000155.4(GALT):c.958G>A (p.Ala320Thr) rs111033795
NM_000155.4(GALT):c.961C>T (p.His321Tyr) rs367543266
NM_000155.4(GALT):c.970C>T (p.Pro324Ser) rs111033798
NM_000155.4(GALT):c.974C>T (p.Pro325Leu) rs111033794
NM_000155.4(GALT):c.997C>T (p.Arg333Trp) rs111033800
NM_000155.4(GALT):c.998G>A (p.Arg333Gln) rs111033808
NM_000157.3(GBA):c.1448T>C rs421016
NM_000157.4(GBA):c.115+1G>A rs104886460
NM_000157.4(GBA):c.1226A>G (p.Asn409Ser) rs76763715
NM_000157.4(GBA):c.1297G>T (p.Val433Leu) rs80356769
NM_000157.4(GBA):c.1342G>C (p.Asp448His) rs1064651
NM_000157.4(GBA):c.1343A>T (p.Asp448Val) rs77369218
NM_000157.4(GBA):c.1504C>T (p.Arg502Cys) rs80356771
NM_000157.4(GBA):c.1505G>A (p.Arg502His) rs80356772
NM_000157.4(GBA):c.1604G>A (p.Arg535His) rs75822236
NM_000158.4(GBE1):c.1134T>G (p.Ser378Arg) rs36099971
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr) rs35196441
NM_000158.4(GBE1):c.671T>C (p.Leu224Pro) rs137852886
NM_000158.4(GBE1):c.785G>A (p.Arg262His) rs369574719
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys) rs80338671
NM_000159.4(GCDH):c.1063C>T (p.Arg355Cys) rs781477694
NM_000159.4(GCDH):c.1144G>A (p.Ala382Thr) rs567564095
NM_000159.4(GCDH):c.1147C>T (p.Arg383Cys) rs150938052
NM_000159.4(GCDH):c.1168G>C (p.Gly390Arg) rs372983141
NM_000159.4(GCDH):c.1173del (p.Asn392fs) rs754002357
NM_000159.4(GCDH):c.1198G>A (p.Val400Met) rs121434372
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp) rs121434369
NM_000159.4(GCDH):c.1205G>A (p.Arg402Gln) rs786204626
NM_000159.4(GCDH):c.1286C>T (p.Thr429Met) rs745360675
NM_000159.4(GCDH):c.226C>T (p.Gln76Ter) rs898043081
NM_000159.4(GCDH):c.271+1G>A rs786204639
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln) rs566417795
NM_000159.4(GCDH):c.356C>T (p.Ser119Leu) rs886043840
NM_000159.4(GCDH):c.383G>A (p.Arg128Gln) rs755586631
NM_000159.4(GCDH):c.395G>A (p.Arg132Gln) rs200639270
NM_000159.4(GCDH):c.416C>T (p.Ser139Leu) rs139851890
NM_000159.4(GCDH):c.428T>C (p.Val143Ala) rs141456457
NM_000159.4(GCDH):c.479A>G (p.Gln160Arg) rs1176799813
NM_000159.4(GCDH):c.532G>A (p.Gly178Arg) rs749452002
NM_000159.4(GCDH):c.572T>C (p.Met191Thr) rs149120354
NM_000159.4(GCDH):c.636-1G>A rs398123195
NM_000159.4(GCDH):c.641C>T (p.Thr214Met) rs1131692030
NM_000159.4(GCDH):c.675G>A (p.Trp225Ter) rs786205862
NM_000159.4(GCDH):c.700C>T (p.Arg234Trp) rs964724051
NM_000159.4(GCDH):c.764C>T (p.Ser255Leu) rs758503371
NM_000159.4(GCDH):c.769C>T (p.Arg257Trp) rs766518430
NM_000159.4(GCDH):c.848del (p.Leu283fs) rs761491320
NM_000159.4(GCDH):c.877G>A (p.Ala293Thr) rs121434371
NM_000159.4(GCDH):c.892G>A (p.Ala298Thr) rs761765983
NM_000159.4(GCDH):c.937C>T (p.Arg313Trp) rs779315456
NM_000159.4(GCDH):c.997C>G (p.Gln333Glu) rs794726972
NM_000169.2(GLA):c.335G>A (p.Arg112His) rs372966991
NM_000170.2(GLDC):c.1009C>T (p.Arg337Ter) rs386833517
NM_000170.2(GLDC):c.1054del (p.Thr352fs) rs386833518
NM_000170.2(GLDC):c.1117C>T (p.Arg373Trp) rs150171524
NM_000170.2(GLDC):c.1270C>T (p.Arg424Ter) rs386833521
NM_000170.2(GLDC):c.128del (p.Asp43fs) rs1251443902
NM_000170.2(GLDC):c.1382G>A (p.Arg461Gln) rs386833524
NM_000170.2(GLDC):c.1545G>C (p.Arg515Ser) rs121964976
NM_000170.2(GLDC):c.1652G>T (p.Ser551Ile) rs751822565
NM_000170.2(GLDC):c.1723G>T (p.Glu575Ter) rs1554646529
NM_000170.2(GLDC):c.1786C>T (p.Arg596Ter) rs386833531
NM_000170.2(GLDC):c.1866_1867AT[3] (p.Ala624fs) rs772068893
NM_000170.2(GLDC):c.1926+5G>A rs1554644678
NM_000170.2(GLDC):c.1927-4G>A rs576723612
NM_000170.2(GLDC):c.1940C>T (p.Pro647Leu) rs201135624
NM_000170.2(GLDC):c.2033_2035del (p.Ala678del) rs769625871
NM_000170.2(GLDC):c.2053-5C>G rs140877566
NM_000170.2(GLDC):c.2203-2A>G rs386833545
NM_000170.2(GLDC):c.2311G>A (p.Gly771Arg) rs386833553
NM_000170.2(GLDC):c.2316-1G>A rs386833554
NM_000170.2(GLDC):c.2527C>T (p.Arg843Ter) rs1554643360
NM_000170.2(GLDC):c.2584G>A (p.Glu862Lys) rs925908885
NM_000170.2(GLDC):c.2614A>T (p.Lys872Ter) rs1430968530
NM_000170.2(GLDC):c.2665+1G>C rs149070244
NM_000170.2(GLDC):c.2838+2T>C rs1554641887
NM_000170.2(GLDC):c.28del (p.Leu10fs) rs386833574
NM_000170.2(GLDC):c.2919+1G>A rs386833575
NM_000170.2(GLDC):c.499G>T (p.Glu167Ter) rs191905539
NM_000170.2(GLDC):c.793del (p.Gln265fs) rs386833586
NM_000170.2(GLDC):c.806C>T (p.Thr269Met) rs386833587
NM_000170.2(GLDC):c.847G>C (p.Ala283Pro) rs386833589
NM_000179.2(MSH6):c.-6G>C rs730881822
NM_000179.2(MSH6):c.-8C>T rs565211544
NM_000179.2(MSH6):c.1037C>T (p.Ser346Phe) rs567785169
NM_000179.2(MSH6):c.1050C>T (p.Ala350=) rs730881802
NM_000179.2(MSH6):c.1063G>A (p.Gly355Ser) rs587778531
NM_000179.2(MSH6):c.107C>T (p.Ala36Val) rs61756469
NM_000179.2(MSH6):c.10C>T (p.Gln4Ter) rs786201042
NM_000179.2(MSH6):c.1144C>T (p.His382Tyr) rs587779207
NM_000179.2(MSH6):c.115G>C (p.Gly39Arg) rs751838296
NM_000179.2(MSH6):c.124C>T (p.Pro42Ser) rs34014629
NM_000179.2(MSH6):c.1346T>C (p.Leu449Pro) rs63750741
NM_000179.2(MSH6):c.1364A>C (p.Asn455Thr) rs200938360
NM_000179.2(MSH6):c.1565A>G (p.Gln522Arg) rs63751009
NM_000179.2(MSH6):c.161G>C (p.Gly54Ala) rs63751098
NM_000179.2(MSH6):c.1665A>G (p.Ala555=) rs146785465
NM_000179.2(MSH6):c.1691C>A (p.Ser564Ter) rs864622153
NM_000179.2(MSH6):c.1696G>A (p.Gly566Arg) rs63749973
NM_000179.2(MSH6):c.1746T>G (p.Phe582Leu) rs201518545
NM_000179.2(MSH6):c.1776A>T (p.Val592=) rs56132616
NM_000179.2(MSH6):c.178T>C (p.Leu60=) rs35819209
NM_000179.2(MSH6):c.1844G>C (p.Cys615Ser) rs730881793
NM_000179.2(MSH6):c.1847C>G (p.Ser616Cys) rs772363120
NM_000179.2(MSH6):c.1867C>G (p.Pro623Ala) rs3136334
NM_000179.2(MSH6):c.1869C>T (p.Pro623=) rs141242295
NM_000179.2(MSH6):c.1870G>A (p.Gly624Ser) rs868760377
NM_000179.2(MSH6):c.1875C>T (p.Ser625=) rs63749886
NM_000179.2(MSH6):c.187T>C (p.Ser63Pro) rs763702846
NM_000179.2(MSH6):c.1932G>C (p.Arg644Ser) rs34938432
NM_000179.2(MSH6):c.2027A>G (p.Lys676Arg) rs143643688
NM_000179.2(MSH6):c.2057G>A (p.Gly686Asp) rs587779227
NM_000179.2(MSH6):c.2147C>T (p.Thr716Ile) rs587782805
NM_000179.2(MSH6):c.2175C>G (p.Ile725Met) rs63750304
NM_000179.2(MSH6):c.2249C>A (p.Thr750Lys) rs730881817
NM_000179.2(MSH6):c.2300C>T (p.Thr767Ile) rs587781462
NM_000179.2(MSH6):c.2319C>T (p.Leu773=) rs63749895
NM_000179.2(MSH6):c.2384T>C (p.Ile795Thr) rs202127474
NM_000179.2(MSH6):c.2398G>C (p.Val800Leu) rs61748083
NM_000179.2(MSH6):c.242C>T (p.Ala81Val) rs587779924
NM_000179.2(MSH6):c.249T>G (p.Ala83=) rs876658308
NM_000179.2(MSH6):c.2667G>T (p.Gln889His) rs149945495
NM_000179.2(MSH6):c.2827G>T (p.Asp943Tyr) rs143520357
NM_000179.2(MSH6):c.2904C>G (p.Val968=) rs150683226
NM_000179.2(MSH6):c.2925C>T (p.Asn975=) rs139026662
NM_000179.2(MSH6):c.3151G>A (p.Val1051Ile) rs576269342
NM_000179.2(MSH6):c.3173-10_3173-6del rs781520783
NM_000179.2(MSH6):c.3198T>C (p.Tyr1066=) rs199643502
NM_000179.2(MSH6):c.321T>C (p.Pro107=) rs730881823
NM_000179.2(MSH6):c.3246G>A (p.Pro1082=) rs3136351
NM_000179.2(MSH6):c.3246G>C (p.Pro1082=) rs3136351
NM_000179.2(MSH6):c.3259C>G (p.Pro1087Ala) rs63750998
NM_000179.2(MSH6):c.3283C>T (p.Arg1095Cys) rs376243329
NM_000179.2(MSH6):c.3284G>A (p.Arg1095His) rs63750253
NM_000179.2(MSH6):c.3334G>A (p.Asp1112Asn) rs773955368
NM_000179.2(MSH6):c.333C>T (p.Tyr111=) rs786202772
NM_000179.2(MSH6):c.3364C>G (p.Gln1122Glu) rs1060502892
NM_000179.2(MSH6):c.3399T>C (p.Thr1133=) rs61748084
NM_000179.2(MSH6):c.3438+11_3438+14del rs377746844
NM_000179.2(MSH6):c.3438+14A>T rs2020911
NM_000179.2(MSH6):c.3438+17G>C rs759737239
NM_000179.2(MSH6):c.3439-10T>A rs730881819
NM_000179.2(MSH6):c.3439-2A>G rs267608098
NM_000179.2(MSH6):c.3478G>A (p.Val1160Ile) rs376799914
NM_000179.2(MSH6):c.3478G>T (p.Val1160Phe) rs376799914
NM_000179.2(MSH6):c.3513T>C (p.Asp1171=) rs63749834
NM_000179.2(MSH6):c.3556+36_3556+39del rs55684722
NM_000179.2(MSH6):c.3605T>C (p.Met1202Thr) rs587779273
NM_000179.2(MSH6):c.363C>T (p.Arg121=) rs587779276
NM_000179.2(MSH6):c.3647-6T>A rs182871847
NM_000179.2(MSH6):c.3647-6T>C rs182871847
NM_000179.2(MSH6):c.364G>A (p.Glu122Lys) rs143036974
NM_000179.2(MSH6):c.3725G>A (p.Arg1242His) rs63750119
NM_000179.2(MSH6):c.3729A>G (p.Thr1243=) rs773807182
NM_000179.2(MSH6):c.3753_3756dup (p.Val1253fs) rs876661222
NM_000179.2(MSH6):c.3762A>T (p.Glu1254Asp) rs375459388
NM_000179.2(MSH6):c.3787C>T (p.Arg1263Cys) rs367912290
NM_000179.2(MSH6):c.3788G>A (p.Arg1263His) rs147852216
NM_000179.2(MSH6):c.3801+17T>C rs3136365
NM_000179.2(MSH6):c.3801+5G>A rs201080919
NM_000179.2(MSH6):c.3833C>G (p.Pro1278Arg) rs201191389
NM_000179.2(MSH6):c.3851C>T (p.Thr1284Met) rs63750836
NM_000179.2(MSH6):c.3852G>A (p.Thr1284=) rs2229018
NM_000179.2(MSH6):c.3852G>T (p.Thr1284=) rs2229018
NM_000179.2(MSH6):c.3936T>C (p.Val1312=) rs61753796
NM_000179.2(MSH6):c.393A>C (p.Val131=) rs752488540
NM_000179.2(MSH6):c.3960A>G (p.Ala1320=) rs373425206
NM_000179.2(MSH6):c.3961A>G (p.Arg1321Gly) rs41295278
NM_000179.2(MSH6):c.3991C>T (p.Arg1331Ter) rs267608094
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.4001G>A (p.Arg1334Gln) rs267608122
NM_000179.2(MSH6):c.4002-14T>C rs587781041
NM_000179.2(MSH6):c.4002-4T>C rs370428032
NM_000179.2(MSH6):c.457+32TG[12] rs397839804
NM_000179.2(MSH6):c.457+52T>A rs3136282
NM_000179.2(MSH6):c.458-17A>G rs554847828
NM_000179.2(MSH6):c.491A>C (p.His164Pro) rs146469162
NM_000179.2(MSH6):c.503C>G (p.Ala168Gly) rs774162322
NM_000179.2(MSH6):c.59C>T (p.Ala20Val) rs63750664
NM_000179.2(MSH6):c.628-7C>A rs373129248
NM_000179.2(MSH6):c.643G>A (p.Val215Ile) rs145959653
NM_000179.2(MSH6):c.884A>G (p.Lys295Arg) rs267608051
NM_000179.2(MSH6):c.908dup (p.Met303fs) rs1057517551
NM_000179.2(MSH6):c.984C>T (p.Ser328=) rs138143769
NM_000182.5(HADHA):c.1086-3_1092del rs1057516460
NM_000182.5(HADHA):c.1132C>T (p.Gln378Ter) rs137852770
NM_000182.5(HADHA):c.1195C>T (p.Arg399Ter) rs1243779049
NM_000182.5(HADHA):c.1637A>G (p.Tyr546Cys) rs370170143
NM_000182.5(HADHA):c.1690-2A>G rs1057516217
NM_000182.5(HADHA):c.1793_1794del (p.His598fs) rs769580842
NM_000182.5(HADHA):c.180+1G>A rs786205088
NM_000182.5(HADHA):c.180+3A>G rs781222705
NM_000182.5(HADHA):c.1811del (p.Gly604fs) rs747985669
NM_000182.5(HADHA):c.1967del (p.Ile655_Leu656insTer) rs779113356
NM_000182.5(HADHA):c.2000+1G>C rs1167218743
NM_000182.5(HADHA):c.2107G>A (p.Gly703Arg) rs200438844
NM_000182.5(HADHA):c.2114T>A (p.Val705Asp) rs1240187200
NM_000182.5(HADHA):c.2146+1G>A rs794727219
NM_000182.5(HADHA):c.274_278del (p.Ser92fs) rs781205883
NM_000182.5(HADHA):c.403A>G (p.Lys135Glu) rs794727700
NM_000182.5(HADHA):c.871C>T (p.Arg291Ter) rs137852775
NM_000182.5(HADHA):c.914T>A (p.Ile305Asn) rs137852774
NM_000182.5(HADHA):c.914T>C (p.Ile305Thr) rs137852774
NM_000182.5(HADHA):c.919-2A>G rs200017313
NM_000187.4(HGD):c.1102A>G (p.Met368Val) rs120074173
NM_000187.4(HGD):c.1111dup (p.His371fs) rs397515516
NM_000187.4(HGD):c.16-1G>A rs397515347
NM_000187.4(HGD):c.175del (p.Ser59fs) rs397515517
NM_000187.4(HGD):c.342+1G>A rs397515518
NM_000187.4(HGD):c.360T>G (p.Cys120Trp) rs149165166
NM_000187.4(HGD):c.457dup (p.Asp153fs) rs397515346
NM_000187.4(HGD):c.481G>A (p.Gly161Arg) rs28941783
NM_000187.4(HGD):c.688C>T (p.Pro230Ser) rs28942100
NM_000187.4(HGD):c.808G>A (p.Gly270Arg) rs120074174
NM_000187.4(HGD):c.899T>G (p.Val300Gly) rs120074170
NM_000191.3(HMGCL):c.202_203CT[2] (p.Ser69fs) rs752137615
NM_000191.3(HMGCL):c.208G>C (p.Val70Leu) rs121964996
NM_000191.3(HMGCL):c.497+4A>G rs568718845
NM_000191.3(HMGCL):c.602C>A (p.Ser201Tyr) rs760106433
NM_000191.3(HMGCL):c.698A>G (p.His233Arg) rs727503963
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys) rs766938111
NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys) rs104894640
NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg) rs144143780
NM_000199.5(SGSH):c.1144_1145insAGCGCC (p.Arg382_His383insGlnArg) rs398123244
NM_000199.5(SGSH):c.1166A>G (p.Asn389Ser) rs1555620214
NM_000199.5(SGSH):c.1272_1282del (p.Tyr424_Arg428delinsTer) rs752914124
NM_000199.5(SGSH):c.1297C>T (p.Arg433Trp) rs777267343
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln) rs104894641
NM_000199.5(SGSH):c.130G>A (p.Ala44Thr) rs1057521146
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys) rs104894639
NM_000199.5(SGSH):c.171C>G (p.Ser57Arg) rs1131691434
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636
NM_000199.5(SGSH):c.221G>A (p.Arg74His) rs778336949
NM_000199.5(SGSH):c.2T>C (p.Met1Thr) rs1488660868
NM_000199.5(SGSH):c.364G>A (p.Gly122Arg) rs761607612
NM_000199.5(SGSH):c.449G>A (p.Arg150Gln) rs104894638
NM_000199.5(SGSH):c.617G>C (p.Arg206Pro) rs104894643
NM_000199.5(SGSH):c.629G>A (p.Trp210Ter) rs886041370
NM_000199.5(SGSH):c.675C>G (p.Phe225Leu) rs34520362
NM_000199.5(SGSH):c.697C>T (p.Arg233Ter) rs374621913
NM_000199.5(SGSH):c.703G>A (p.Asp235Asn) rs753472891
NM_000199.5(SGSH):c.817G>A (p.Asp273Asn) rs1046551417
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser) rs143947056
NM_000199.5(SGSH):c.961A>G (p.Thr321Ala) rs758756630
NM_000203.4(IDUA):c.199A>T (p.Ser67Cys) rs370442463
NM_000203.5(IDUA):c.1044C>G (p.Asn348Lys) rs746766617
NM_000203.5(IDUA):c.1091C>T (p.Thr364Met) rs121965032
NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys) rs794727896
NM_000203.5(IDUA):c.1487C>G (p.Pro496Arg) rs772416503
NM_000203.5(IDUA):c.1650+5G>A rs398123256
NM_000203.5(IDUA):c.1855C>G (p.Arg619Gly) rs121965031
NM_000203.5(IDUA):c.191_192del (p.Tyr64fs) rs794727240
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) rs58037052
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+1104G>A rs387907484
NM_000203.5(IDUA):c.299+1279C>T rs387907481
NM_000203.5(IDUA):c.299+1542A>T rs387907487
NM_000203.5(IDUA):c.299+1627G>A rs387907483
NM_000203.5(IDUA):c.299+1G>T rs398123259
NM_000203.5(IDUA):c.299+3322C>T rs387907486
NM_000203.5(IDUA):c.299+3399C>T rs368990025
NM_000203.5(IDUA):c.300-3C>G rs1226056948
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro) rs794726878
NM_000203.5(IDUA):c.713T>A (p.Leu238Gln) rs148789453
NM_000203.5(IDUA):c.757G>T (p.Gly253Cys) rs546933529
NM_000203.5(IDUA):c.878_889dup (p.Thr293_Tyr296dup) rs779762183
NM_000203.5(IDUA):c.898G>A (p.Ala300Thr) rs121965030
NM_000203.5(IDUA):c.965T>A (p.Val322Glu) rs76722191
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro) rs199801029
NM_000228.3(LAMB3):c.1090C>T (p.Arg364Trp) rs370699820
NM_000228.3(LAMB3):c.1117C>T (p.Gln373Ter) rs1057517096
NM_000228.3(LAMB3):c.124C>T (p.Arg42Ter) rs80356680
NM_000228.3(LAMB3):c.1365_1366del (p.Asn456fs) rs769967565
NM_000228.3(LAMB3):c.1486-1G>A rs1418276828
NM_000228.3(LAMB3):c.1705C>T (p.Arg569Ter) rs201551805
NM_000228.3(LAMB3):c.1823dup (p.Ser608fs) rs1057516219
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter) rs80356682
NM_000228.3(LAMB3):c.2011del (p.Leu671fs) rs1057516822
NM_000228.3(LAMB3):c.223_224CA[1] (p.His75fs) rs886045870
NM_000228.3(LAMB3):c.2288del (p.Gly763fs) rs886041893
NM_000228.3(LAMB3):c.2346del (p.Thr783fs) rs1057516486
NM_000228.3(LAMB3):c.2842del (p.Val948fs) rs772421306
NM_000228.3(LAMB3):c.2945A>G (p.Asp982Gly) rs140769823
NM_000228.3(LAMB3):c.298+2T>C rs1057517312
NM_000228.3(LAMB3):c.463dup (p.Ser155fs) rs776537364
NM_000228.3(LAMB3):c.497_498AG[1] (p.Ser167fs) rs1057516241
NM_000228.3(LAMB3):c.596G>C (p.Gly199Ala) rs121912486
NM_000228.3(LAMB3):c.628+1G>A rs1057516539
NM_000228.3(LAMB3):c.628+42G>A rs587776812
NM_000228.3(LAMB3):c.727C>T (p.Gln243Ter) rs80356681
NM_000228.3(LAMB3):c.978del (p.Phe327fs) rs763559509
NM_000231.2(SGCG):c.195+1G>C rs200502077
NM_000231.2(SGCG):c.195+4_195+7del rs797045106
NM_000231.2(SGCG):c.579-2A>G rs754415994
NM_000231.2(SGCG):c.581T>C (p.Leu194Ser) rs547818652
NM_000231.2(SGCG):c.787G>A (p.Glu263Lys) rs104894423
NM_000232.4(SGCB):c.299T>A (p.Met100Lys) rs104893871
NM_000232.4(SGCB):c.29_33del (p.Glu10fs) rs1057517064
NM_000232.4(SGCB):c.341C>T (p.Ser114Phe) rs150518260
NM_000232.4(SGCB):c.452C>G (p.Thr151Arg) rs28936383
NM_000232.4(SGCB):c.552T>G (p.Tyr184Ter) rs104893868
NM_000232.4(SGCB):c.656_657del (p.