ClinVar Miner

Variants from Illumina Clinical Services Laboratory,Illumina with conflicting interpretations

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

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

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
125115 11888 91 4424 7016 86 1017 11943

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All submitters
Illumina Clinical Services Laboratory,Illumina pathogenic likely pathogenic uncertain significance likely benign benign affects association drug response protective risk factor other
pathogenic 61 190 60 4 2 1 0 0 0 12 0
likely pathogenic 212 1 54 9 3 0 0 0 0 0 1
uncertain significance 451 317 12 4340 1822 2 1 0 1 7 8
likely benign 122 37 959 5 3028 1 2 3 2 16 6
benign 66 18 541 1157 12 3 4 1 2 11 10

Submitter to submitter summary #

Total submitters: 270
Download table as spreadsheet
Submitter Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
Invitae 0 6514 0 2288 4545 15 181 7014
Natera, Inc. 0 1961 0 339 781 0 26 1145
GeneDx 0 795 0 432 454 0 64 945
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 829 0 365 210 1 22 597
Mendelics 0 575 0 201 265 0 30 496
PreventionGenetics, PreventionGenetics 0 444 0 366 125 0 0 491
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 669 0 267 184 2 24 471
Counsyl 0 641 0 160 216 0 80 456
OMIM 0 306 0 72 31 53 254 408
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 352 0 213 117 2 28 360
Illumina Clinical Services Laboratory,Illumina 146667 1970 0 150 153 0 7 309
GeneReviews 0 184 75 48 56 2 93 274
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 411 0 143 109 0 3 255
Integrated Genetics/Laboratory Corporation of America 0 304 2 120 109 0 22 252
Genetic Services Laboratory, University of Chicago 0 343 0 127 115 1 10 251
Athena Diagnostics Inc 0 377 0 140 90 0 8 237
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 706 0 124 85 0 1 210
Ambry Genetics 0 166 0 124 76 0 2 202
Color Health, Inc 0 106 0 75 117 0 3 195
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 280 0 127 59 0 2 188
CeGaT Praxis fuer Humangenetik Tuebingen 0 214 0 20 118 0 33 170
Baylor Genetics 0 484 0 20 80 0 63 163
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 54 0 86 49 0 0 135
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 157 0 64 41 0 0 105
Sharing Clinical Reports Project (SCRP) 0 52 0 55 36 0 0 91
Fulgent Genetics,Fulgent Genetics 0 403 0 38 41 0 6 85
Breast Cancer Information Core (BIC) (BRCA2) 0 55 0 22 49 0 0 71
Broad Institute Rare Disease Group, Broad Institute 0 56 0 30 31 0 4 65
Quest Diagnostics Nichols Institute San Juan Capistrano 0 75 0 23 37 0 4 64
Mayo Clinic Laboratories, Mayo Clinic 0 86 0 27 27 0 10 63
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 93 0 18 23 0 17 58
Institute of Human Genetics, University of Leipzig Medical Center 0 64 0 17 29 0 11 57
Department of Pathology and Laboratory Medicine,Sinai Health System 0 52 0 19 32 0 7 57
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 29 0 5 36 0 15 56
Michigan Medical Genetics Laboratories,University of Michigan 0 47 0 43 8 0 0 51
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 70 0 12 26 0 13 50
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 69 0 18 24 0 4 46
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 25 8 12 23 0 2 45
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 44 0 20 18 0 4 42
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 14 0 23 15 0 1 39
CSER _CC_NCGL, University of Washington 0 37 0 8 23 0 7 38
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 33 0 1 35 0 1 37
Breast Cancer Information Core (BIC) (BRCA1) 0 40 0 6 30 0 0 36
SIB Swiss Institute of Bioinformatics 0 44 0 21 13 0 2 36
Johns Hopkins Genomics, Johns Hopkins University 0 42 0 15 13 0 7 35
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 28 0 9 21 0 2 32
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 70 0 10 14 0 5 29
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 13 0 16 11 0 2 29
NIHR Bioresource Rare Diseases, University of Cambridge 0 18 0 10 4 0 16 29
Clinical Biochemistry Laboratory,Health Services Laboratory 0 9 0 1 24 0 3 28
LDLR-LOVD, British Heart Foundation 0 18 0 9 11 0 6 26
Pathway Genomics 0 25 0 20 6 0 0 26
Myriad Women's Health, Inc. 0 101 0 18 0 0 5 23
Leiden Open Variation Database 0 8 0 3 6 0 13 22
Nilou-Genome Lab 0 28 0 3 19 0 0 22
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 10 0 7 2 0 12 21
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 0 17 0 5 8 0 7 20
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 35 0 7 0 0 12 19
Pars Genome Lab 0 11 0 1 18 0 0 19
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 6 0 9 6 0 2 17
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 10 0 5 9 0 2 16
Reproductive Health Research and Development,BGI Genomics 0 29 0 5 3 1 7 16
Department of Ophthalmology and Visual Sciences Kyoto University 0 2 5 4 2 0 4 15
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 13 0 3 7 0 5 15
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 9 0 0 10 0 4 14
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 14 0 1 8 0 5 14
Elsea Laboratory,Baylor College of Medicine 0 7 0 2 6 0 5 13
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 1 6 0 0 6 13
Division of Human Genetics,Children's Hospital of Philadelphia 0 40 0 8 1 0 4 13
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 18 0 4 2 0 8 13
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 19 0 5 7 0 1 13
Phosphorus, Inc. 0 24 0 6 6 0 1 13
ClinGen CDH1 Variant Curation Expert Panel 0 27 0 10 3 0 0 13
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 13 0 9 3 0 0 12
CFTR-France 0 13 0 1 0 0 11 12
University of Washington Department of Laboratory Medicine, University of Washington 0 5 0 5 4 0 2 11
Molecular Biology Laboratory, Fundació Puigvert 0 2 0 8 0 0 3 11
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 0 18 0 4 1 0 5 10
Blueprint Genetics 0 14 0 1 6 0 3 10
Institute of Human Genetics, Klinikum rechts der Isar 0 18 0 3 0 0 7 10
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 6 0 0 3 0 7 10
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 24 0 2 3 0 5 10
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 26 0 8 0 0 2 10
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 5 0 5 5 0 0 10
Department of Human Genetics,Laborarztpraxis Dres. Walther, Weindel und Kollegen 0 18 0 8 2 0 0 10
ClinGen Platelet Disorders Variant Curation Expert Panel,ClinGen 0 14 0 5 3 0 2 10
Center for Medical Genetics Ghent,University of Ghent 0 10 0 0 8 0 1 9
Cardiovascular Biomarker Research Laboratory,Mayo Clinic 0 7 0 6 3 0 0 9
Robarts Research Institute,Western University 0 12 0 4 5 0 0 9
Research and Development, ARUP Laboratories 0 27 0 5 1 0 3 9
Fundacion Hipercolesterolemia Familiar 0 7 0 6 3 0 0 9
Sharon lab,Hadassah-Hebrew University Medical Center 0 4 0 3 0 0 6 9
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 6 0 0 6 0 3 8
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 6 0 0 1 0 7 8
SingHealth Duke-NUS Institute of Precision Medicine 0 6 0 2 5 0 1 8
ClinGen PAH Variant Curation Expert Panel 0 21 0 4 3 0 1 8
Institute for Human Genetics,University Clinic Freiburg 0 3 0 1 0 0 6 7
Molecular Genetics Laboratory,Institute for Ophthalmic Research 0 2 0 0 1 0 6 7
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 5 0 5 0 1 1 7
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 6 0 2 3 0 2 7
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 10 0 4 1 0 3 7
Iberoamerican FH Network 0 5 0 2 5 0 0 7
Centogene AG - the Rare Disease Company 0 6 0 2 0 0 4 6
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 5 0 6 0 0 0 6
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 0 1 0 5 1 0 0 6
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 0 2 0 0 4 0 2 6
UCLA Clinical Genomics Center, UCLA 0 0 0 3 0 0 3 6
Service de Génétique Moléculaire,Hôpital Robert Debré 0 3 0 0 5 0 1 6
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation 0 4 0 4 2 0 0 6
Inherited Neuropathy Consortium 0 0 0 1 4 0 1 6
ClinGen Hearing Loss Variant Curation Expert Panel 0 2 0 0 5 0 1 6
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 21 0 3 0 0 2 5
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 9 0 3 0 0 3 5
UW Hindbrain Malformation Research Program,University of Washington 0 0 0 1 0 0 4 5
Laboratory of Prof. Karen Avraham,Tel Aviv University 0 1 0 2 0 0 3 5
Undiagnosed Diseases Network,NIH 0 6 0 1 4 0 1 5
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 8 0 1 1 0 3 5
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 5 0 4 1 0 0 5
National Institute of Sensory Organs,National Hospital Organization Tokyo Medical Center 0 0 0 0 0 5 0 5
Brunham Lab, Centre for Heart and Lung Innovation,University of British Columbia 0 2 0 3 0 0 2 5
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 0 1 0 1 0 0 3 4
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 7 0 3 1 0 0 4
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 5 0 1 2 0 1 4
Institute for Integrative and Experimental Genomics,University of Luebeck 0 1 0 3 0 0 1 4
University of Washington Center for Mendelian Genomics, University of Washington 0 2 0 2 0 0 2 4
Center for Precision Medicine,Vanderbilt University Medical Center 0 4 0 0 2 0 2 4
ClinGen PTEN Variant Curation Expert Panel 0 3 0 2 1 0 1 4
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 2 0 0 1 3
PharmGKB 0 0 0 0 0 3 0 3
Atomic Energy Commission of Syria (AECS) 0 0 0 3 0 0 0 3
Hadassah Hebrew University Medical Center 0 4 0 3 0 0 0 3
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 0 0 0 0 0 3 3
Metabolic Liver Diseases Lab,Fondazione IRCCS Ca Granda Policlinico, University of Milan 0 0 0 0 0 0 3 3
Daryl Scott Lab,Baylor College of Medicine 0 0 0 0 1 0 2 3
Department of Laboratory Medicine and Genetics,Trillium Health Partners Credit Valley Hospital 0 9 0 1 1 0 1 3
Medical & Molecular Genetics Group,University of Lincoln 0 0 0 0 2 0 1 3
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova 0 7 0 2 1 0 0 3
Biomedical Innovation Departament, CIEMAT 0 1 0 0 0 0 3 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 2 0 0 1 3
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 0 5 0 3 0 0 0 3
Difficult and Complicated Liver Diseases and Artificial Liver Center,Beijing You An Hospital, Capital Medical University 0 0 0 1 0 0 2 3
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel, ClinGen 0 11 0 1 2 0 0 3
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 1 0 1 1 0 1 3
New York Genome Center 0 5 0 0 1 0 2 3
Institute of Medical Molecular Genetics, University of Zurich 0 0 0 2 0 0 0 2
Eye Genetics Research Group,Children's Medical Research Institute 0 0 0 1 1 0 0 2
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 0 0 0 0 0 0 2 2
Department of Prosthodontics,Peking University School and Hospital of Stomatology 0 0 0 0 0 0 2 2
GeneKor MSA 0 3 0 1 1 0 0 2
UCL Genetics Institute,UCL 0 0 0 0 0 2 0 2
Vantari Genetics 0 1 0 2 0 0 0 2
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 8 0 1 1 0 0 2
Center for Statistical Genetics, Columbia University 0 0 0 0 0 0 2 2
Department of Medical Genetics, University Hospital of North Norway 0 6 0 2 0 0 0 2
Medical Molecular Genetics Department, National Research Center 0 5 0 0 2 0 0 2
Weber Lab,Hannover Medical School 0 0 0 0 0 0 2 2
GenePathDx,Causeway Health Care Private Ltd 0 0 0 1 1 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 9 0 0 2 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 5 0 0 1 0 2 2
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 0 1 1 0 2 2
Human Genomics Unit,Institute for molecular medicine Finland (FIMM) 0 1 0 0 1 0 1 2
Institute for Genomic Medicine, Nationwide Children's Hospital 0 1 0 0 0 0 2 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 3 0 1 1 0 0 2
Gharavi Laboratory,Columbia University 0 4 0 0 1 0 1 2
Genetic Diseases Diagnostic Center,Koc University Hospital 0 0 0 1 0 0 1 2
Codex Genetics Limited 0 0 0 0 0 0 2 2
Biochemistry Laboratory of CDMU,Chengde Medical University 0 0 0 1 0 0 1 2
CZECANCA consortium 0 3 0 1 0 0 1 2
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire,Universite Libre de Bruxelles 0 3 0 0 0 0 2 2
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics 0 2 0 1 1 0 0 2
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute,Kanazawa Medical University 0 6 0 2 0 0 0 2
Mount Sinai Diagnostic Laboratory,Icahn School of Medicine at Mount Sinai 0 0 0 1 0 0 1 2
CeMIA 0 5 0 1 1 0 0 2
Faculty of Health Sciences,Beirut Arab University 0 2 0 1 0 0 1 2
The Core Laboratory in Medical Center of Clinical Research,Shanghai Ninth People's Hospital, Shanghai Jiaotong University School of Medicine 0 0 0 0 1 0 1 2
Laboratory of Molecular Genetics,Children's Memorial Health Institute 0 1 0 1 0 0 1 2
Paris Brain Institute,Inserm - ICM 0 2 0 0 0 0 2 2
Laboratory of Molecular Genetics,National Medical Research Center for Therapy and Preventive Medicine 0 0 0 1 1 0 0 2
Practice for Gait Abnormalities, David Pomarino,Competency Network Toe Walking c/o Practice Pomarino 0 2 0 0 1 0 1 2
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 0 0 1 0 0 0 1
Molecular Otolaryngology and Renal Research Laboratories,University of Iowa Hospital and Clinics 0 0 0 1 0 0 0 1
Molecular Genetics Diagnostic Laboratory,Detroit Medical Center University Laboratories 0 0 0 1 0 0 0 1
Clinical Genetics laboratory, University of Goettingen 0 3 0 0 0 0 1 1
Molecular Genetics Laboratory,London Health Sciences Centre 0 0 0 0 1 0 0 1
King Laboratory,University of Washington 0 0 0 0 0 0 1 1
Hehr Laboratory,Center for Human Genetics - University of Regensburg 0 0 0 0 1 0 0 1
Institute of Human Genetics,Cologne University 0 2 0 1 0 0 0 1
Molecular Diagnostics Laboratory,Seoul National University Hospital 0 0 0 1 0 0 0 1
Versiti Diagnostic Laboratories,Versiti, Inc 0 0 0 0 1 0 0 1
MyeliNeuroGene Lab,McGill University Health Center Research Institute 0 0 0 0 0 0 1 1
CFTR2 0 10 0 0 0 0 1 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 5 0 0 0 0 1 1
SNPedia 0 0 0 0 0 0 1 1
Inserm U 954, Faculté de Médecine de Nancy 0 0 0 0 0 0 1 1
Human Genetics School of Medicine of Albacete, Castilla-La Mancha University 0 0 0 0 0 0 1 1
Department of Psychiatry,Nagoya University 0 0 0 0 0 0 1 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 0 0 0 0 0 0 1 1
Department of Medical Genetics, Oslo University Hospital 0 1 0 1 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 3 0 0 1 0 0 1
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics 0 0 0 0 0 1 0 1
Lyon Laboratory, Cold Spring Harbor Laboratory 0 0 0 0 1 0 0 1
Laboratory of Human Genetics,Universidade de São Paulo 0 0 0 0 0 0 1 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 3 0 1 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 0 0 0 0 0 1 1
Genome Sciences Centre,British Columbia Cancer Agency 0 0 0 0 0 0 1 1
Medical Genetics, University of Parma 0 1 0 0 1 0 0 1
Centre for Genomic and Experimental Medicine,University of Edinburgh 0 0 0 1 0 0 0 1
Pediatric Genetics Division, Center for Pediatrics and Adolescent Medicine,University Medical Center Freiburg 0 1 0 0 0 0 1 1
McDonnell Genome Institute,Washington University in St. Louis 0 0 0 0 0 0 1 1
Aziz Sancar Institute of Experimental Medicine,Istanbul University 0 0 0 0 0 0 1 1
National Institute on Deafness and Communication Disorders,National Institutes of Health 0 2 0 0 0 0 1 1
Clinical Genetics, Erasmus University Medical Center 0 0 0 0 1 0 0 1
Human Genetics Disease in Children – Taif University,Taif University 0 4 0 0 0 0 1 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 2 0 0 1 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 0 0 0 1 1
Biology Pathology Center,Lille University Hospital 0 0 0 0 0 0 1 1
Bioinformatics dept.,Datar Cancer Genetics Limited, India 0 0 0 0 0 0 1 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 0 0 1 0 0 1
Erich and Hanna Klessmann Institute for Cardiovascular Research and Development,Heart and Diabetes Center North Rhine-Westphalia 0 0 0 0 1 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 0 0 0 0 0 1 1
Reutter Lab, Institute of Human Genetics, University Hospital Bonn 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
Kasturba Medical College, Manipal University 0 2 0 0 1 0 0 1
Neurogenetics Laboratory - MEYER,AOU Meyer 0 0 0 0 0 0 1 1
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 0 0 0 0 0 0 1 1
Biochimie - Maladies Neurologiques Hereditaires,Hospices Civils de Lyon 0 0 0 0 0 0 1 1
Columbia University Medical Center,Columbia University 0 0 0 0 0 0 1 1
TIDEX, University of British Columbia 0 0 0 0 1 0 0 1
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency 0 1 0 0 1 0 0 1
Institute of Cellular and Molecular Medicine,Copenhagen University 0 0 0 0 0 0 1 1
Flegel Lab,National Institutes of Health 0 0 0 0 0 0 1 1
Tolun Lab, Human Genetics Laboratory,Bogazici University 0 1 0 0 1 0 0 1
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe 0 0 0 1 0 0 0 1
True Health Diagnostics 0 10 0 0 1 0 0 1
Department of Genetic, Henri Mondor Hospital,Assistance Publique des Hôpitaux de Paris 0 0 0 0 0 0 1 1
Ocular Genomics Institute, Massachusetts Eye and Ear 0 15 0 1 0 0 0 1
Laboratory of Medical Genetics, INSERM 0 0 0 1 0 0 0 1
Laboratoire de Genetique Moleculaire,Centre Hospitalier Universitaire de Bordeaux 0 0 0 0 1 0 0 1
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 0 0 0 0 1 0 1 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 3 0 0 0 0 1 1
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano 0 0 0 0 1 0 0 1
Center of Medical Genetics,Central South University 0 0 0 0 0 0 1 1
Division of Genetic Medicine, Lausanne University Hospital 0 0 0 0 1 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 2 0 1 0 0 0 1
Michaelson Lab,University of Iowa 0 0 0 0 1 0 0 1
Molecular Pathology Diagnostics Labratory,University of Iowa Hospitals & Clinics 0 0 0 0 0 0 1 1
Department of Pediatrics, Gifu University 0 1 0 0 0 0 1 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 2 0 0 0 0 1 1
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 2 0 0 1 0 0 1
ClinGen Myeloid Malignancy Variant Curation Expert Panel 0 17 0 1 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 0 0 0 0 1 1
UT Southwestern Medical Center, UT Southwestern Medical Center 0 0 0 0 0 1 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 0 0 0 1 0 0 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 1 0 0 1
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 0 3 0 0 1 0 0 1
Division of Medical Genetics, University of Washington 0 1 0 0 1 0 0 1
The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder,Children's Hospital of Fudan University 0 0 0 0 0 0 1 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 0 0 0 0 0 0 1 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 0 0 0 0 0 1 1
Central Laboratory,The First Hospital of Lanzhou University 0 0 0 0 0 0 1 1
Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University 0 1 0 0 0 0 1 1
International Fanconi Anemia Registry,The Rockefeller University 0 0 0 0 0 0 1 1
GenomeConnect - Simons Searchlight 0 1 0 0 0 0 1 1
Laboratory of Molecular Genetics and Genomics,Rennes University Hospital 0 1 0 0 0 0 1 1
Department of Vascular Biology,Beijing Anzhen Hospital 0 1 0 1 0 0 0 1
Precision Medicine Center,Zhengzhou University 0 2 0 0 1 0 0 1
ATS em Genética Clínica,Universidade Federal do Rio Grande do Sul 0 1 0 0 0 0 1 1
Neurogenetic Laboratory,Second Faculty of Medicine, Charles University 0 1 0 0 0 0 1 1
Wilkie Group, Clinical Genetics Lab, WIMM,University of Oxford 0 0 0 0 0 0 1 1
Yunnan Provincial Key Laboratory of Clinical Virology, Institution of Basic and Clinical Medicine of Yunnan Province,The First People's Hospital of Yunnan Province 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 11943
Download table as spreadsheet
HGVS dbSNP
MYH11:c.503-14_503-12del rs141564071
NC_000016.10:g.68835549T>A rs181705992
NC_000019.10:g.11089452G>T
NM_000016.5(ACADM):c.*77C>T rs143911981
NM_000016.5(ACADM):c.127G>A (p.Glu43Lys) rs147559466
NM_000016.5(ACADM):c.210T>G (p.Thr70=) rs778891510
NM_000016.5(ACADM):c.287-10G>C rs368875210
NM_000016.5(ACADM):c.469-9A>G rs181322317
NM_000016.5(ACADM):c.526G>T (p.Ala176Ser) rs200754053
NM_000016.5(ACADM):c.57T>C (p.His19=) rs762984318
NM_000016.5(ACADM):c.582C>T (p.Asn194=) rs778535261
NM_000016.5(ACADM):c.624T>C (p.Asp208=) rs886046523
NM_000016.5(ACADM):c.645T>A (p.Ala215=) rs147395095
NM_000016.5(ACADM):c.678A>G (p.Ala226=) rs2229249
NM_000016.5(ACADM):c.797A>G (p.Asp266Gly) rs201375579
NM_000016.5(ACADM):c.799G>A (p.Gly267Arg) rs121434274
NM_000016.5(ACADM):c.994C>T (p.Leu332=) rs138098371
NM_000016.6(ACADM):c.1237C>T (p.Arg413Cys)
NM_000016.6(ACADM):c.276A>G (p.Pro92=)
NM_000016.6(ACADM):c.927C>T (p.Phe309=)
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234
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.1147C>T (p.Arg383Cys) rs28940872
NM_000017.4(ACADS):c.164C>T (p.Pro55Leu) rs147442301
NM_000017.4(ACADS):c.319C>T (p.Arg107Cys) rs61732144
NM_000017.4(ACADS):c.511C>T (p.Arg171Trp) rs1800556
NM_000017.4(ACADS):c.624+8C>T rs371550264
NM_000017.4(ACADS):c.625G>A (p.Gly209Ser) rs1799958
NM_000017.4(ACADS):c.910dup (p.Leu304fs) rs1057516606
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+15C>T rs202237278
NM_000018.4(ACADVL):c.1097G>A (p.Arg366His) rs112406105
NM_000018.4(ACADVL):c.114G>C (p.Arg38=)
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp) rs745832866
NM_000018.4(ACADVL):c.1239A>G (p.Ile413Met) rs143172658
NM_000018.4(ACADVL):c.1246G>A (p.Ala416Thr) rs118204018
NM_000018.4(ACADVL):c.1284G>A (p.Lys428=)
NM_000018.4(ACADVL):c.1434+14T>A rs202217537
NM_000018.4(ACADVL):c.1473A>G (p.Leu491=) rs150518187
NM_000018.4(ACADVL):c.1533-4T>A rs369986567
NM_000018.4(ACADVL):c.1581G>A (p.Pro527=) rs149436747
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp) rs146379816
NM_000018.4(ACADVL):c.1600G>A (p.Glu534Lys) rs2230180
NM_000018.4(ACADVL):c.1678+15C>T rs371402802
NM_000018.4(ACADVL):c.1824C>T (p.Ile608=) rs146115467
NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp) rs118204014
NM_000018.4(ACADVL):c.1839G>A (p.Arg613=) rs79125791
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617
NM_000018.4(ACADVL):c.201G>A (p.Lys67=)
NM_000018.4(ACADVL):c.216C>T (p.Ser72=) rs761492981
NM_000018.4(ACADVL):c.308A>G (p.Lys103Arg) rs140566084
NM_000018.4(ACADVL):c.343-14T>C
NM_000018.4(ACADVL):c.481G>A (p.Ala161Thr) rs375284481
NM_000018.4(ACADVL):c.636C>T (p.Ala212=) rs76547988
NM_000018.4(ACADVL):c.637G>A (p.Ala213Thr) rs140629318
NM_000018.4(ACADVL):c.693T>A (p.Ser231=) rs77763289
NM_000018.4(ACADVL):c.751A>G (p.Ser251Gly) rs749159573
NM_000018.4(ACADVL):c.780G>A (p.Thr260=) rs140871321
NM_000018.4(ACADVL):c.818G>C (p.Gly273Ala) rs150149784
NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg) rs200788251
NM_000018.4(ACADVL):c.963C>T (p.Asn321=) rs568118142
NM_000019.4(ACAT1):c.*6dup rs111390656
NM_000019.4(ACAT1):c.239-8T>A rs202030208
NM_000019.4(ACAT1):c.436-4G>C rs3741050
NM_000019.4(ACAT1):c.890C>A (p.Thr297Lys) rs886041122
NM_000020.2(ACVRL1):c.-52G>A rs573048639
NM_000020.2(ACVRL1):c.1348A>G (p.Thr450Ala) rs146206499
NM_000020.2(ACVRL1):c.207C>T (p.Cys69=) rs56080682
NM_000020.3(ACVRL1):c.1131A>G (p.Ala377=) rs61734313
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val) rs139142865
NM_000020.3(ACVRL1):c.759C>T (p.His253=) rs374020751
NM_000020.3(ACVRL1):c.9G>A (p.Leu3=) rs779236098
NM_000021.3(PSEN1):c.-296C>T rs1800839
NM_000022.4(ADA):c.162G>A (p.Lys54=) rs45557242
NM_000022.4(ADA):c.192G>A (p.Lys64=) rs144168646
NM_000022.4(ADA):c.21C>T (p.Phe7=) rs925528695
NM_000022.4(ADA):c.226C>T (p.Arg76Trp) rs121908736
NM_000022.4(ADA):c.239A>G (p.Lys80Arg) rs11555566
NM_000022.4(ADA):c.375C>G (p.Thr125=) rs766539394
NM_000022.4(ADA):c.425G>A (p.Arg142Gln) rs61732239
NM_000022.4(ADA):c.591T>A (p.His197Gln) rs142456343
NM_000022.4(ADA):c.631C>T (p.Arg211Cys) rs121908740
NM_000022.4(ADA):c.642C>T (p.His214=) rs562055008
NM_000022.4(ADA):c.927G>A (p.Gln309=) rs139871719
NM_000022.4(ADA):c.941A>G (p.Asp314Gly)
NM_000023.4(SGCA):c.320C>T (p.Ala107Val) rs186669379
NM_000026.4(ADSL):c.1187G>A (p.Arg396His) rs763542069
NM_000026.4(ADSL):c.1264G>T (p.Asp422Tyr) rs119450943
NM_000026.4(ADSL):c.357+6C>T rs181628906
NM_000026.4(ADSL):c.357+7G>A rs199993991
NM_000026.4(ADSL):c.363G>A (p.Leu121=) rs138203195
NM_000026.4(ADSL):c.403-4G>A rs373652667
NM_000026.4(ADSL):c.763C>T (p.Leu255=) rs771049726
NM_000026.4(ADSL):c.953C>T (p.Pro318Leu) rs202064195
NM_000027.4(AGA):c.1023A>G (p.Glu341=) rs113407270
NM_000027.4(AGA):c.281+13T>G rs34241758
NM_000027.4(AGA):c.303A>T (p.Ala101=) rs142449515
NM_000027.4(AGA):c.313C>A (p.Leu105Ile) rs76491548
NM_000027.4(AGA):c.34G>T (p.Val12Leu) rs74626221
NM_000027.4(AGA):c.436T>G (p.Leu146Val) rs146381591
NM_000027.4(AGA):c.537C>A (p.Cys179Ter) rs748171793
NM_000027.4(AGA):c.60A>G (p.Leu20=) rs114918706
NM_000027.4(AGA):c.623-7C>T rs201125635
NM_000027.4(AGA):c.657T>C (p.Ala219=) rs886059261
NM_000027.4(AGA):c.675T>C (p.Asn225=) rs138699617
NM_000027.4(AGA):c.698+1G>T rs1057517175
NM_000027.4(AGA):c.762C>T (p.Ala254=) rs145465919
NM_000027.4(AGA):c.885G>A (p.Lys295=) rs34019119
NM_000027.4(AGA):c.902T>C (p.Phe301Ser) rs35916166
NM_000027.4(AGA):c.965C>T (p.Thr322Ile) rs56849061
NM_000030.3(AGXT):c.*19G>A rs143458283
NM_000030.3(AGXT):c.*289A>C rs4344931
NM_000030.3(AGXT):c.*41C>A rs4273214
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met) rs4426527
NM_000030.3(AGXT):c.1111G>A (p.Glu371Lys) rs369664123
NM_000030.3(AGXT):c.145A>C (p.Met49Leu) rs74205173
NM_000030.3(AGXT):c.166-14C>T rs180177176
NM_000030.3(AGXT):c.264C>T (p.Ala88=) rs35698882
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn) rs115014558
NM_000030.3(AGXT):c.32C>T (p.Pro11Leu) rs34116584
NM_000030.3(AGXT):c.358+13C>T rs34995778
NM_000030.3(AGXT):c.35A>G (p.Lys12Arg) rs142969817
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529
NM_000030.3(AGXT):c.537G>C (p.Leu179=) rs565927450
NM_000030.3(AGXT):c.557C>T (p.Ala186Val) rs117195882
NM_000030.3(AGXT):c.590G>A (p.Arg197Gln) rs34664134
NM_000030.3(AGXT):c.654G>A (p.Ser218=) rs33958047
NM_000030.3(AGXT):c.65A>G (p.Asn22Ser) rs34885252
NM_000030.3(AGXT):c.705G>A (p.Thr235=) rs35977912
NM_000030.3(AGXT):c.822G>C (p.Glu274Asp) rs146525143
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr) rs140992177
NM_000030.3(AGXT):c.839C>T (p.Ala280Val) rs73106685
NM_000030.3(AGXT):c.866G>A (p.Arg289His) rs61729604
NM_000030.3(AGXT):c.883G>A (p.Ala295Thr) rs13408961
NM_000030.3(AGXT):c.885G>A (p.Ala295=) rs377132245
NM_000030.3(AGXT):c.942+14T>G rs886055843
NM_000030.3(AGXT):c.976G>A (p.Val326Ile) rs115057148
NM_000032.5(ALAS2):c.1559C>T (p.Pro520Leu) rs201062903
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter) rs128624221
NM_000033.4(ABCD1):c.1489-6del rs398123101
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro) rs201774661
NM_000033.4(ABCD1):c.1914C>T (p.Asp638=) rs199723613
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln) rs1557055340
NM_000033.4(ABCD1):c.2044G>C (p.Glu682Gln) rs781793261
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg) rs782161942
NM_000033.4(ABCD1):c.696G>T (p.Ala232=) rs147595334
NM_000033.4(ABCD1):c.707G>A (p.Arg236His) rs201455322
NM_000033.4(ABCD1):c.945G>A (p.Ser315=) rs145545199
NM_000035.4(ALDOB):c.178C>A (p.Arg60=) rs118204429
NM_000035.4(ALDOB):c.243C>T (p.His81=) rs182003715
NM_000035.4(ALDOB):c.282C>T (p.Phe94=) rs549682194
NM_000035.4(ALDOB):c.375T>C (p.Ile125=) rs886063292
NM_000035.4(ALDOB):c.486C>G (p.Leu162=)
NM_000035.4(ALDOB):c.486C>T (p.Leu162=) rs773334784
NM_000035.4(ALDOB):c.543T>G (p.Asn181Lys) rs35885472
NM_000035.4(ALDOB):c.681C>T (p.Thr227=) rs61757689
NM_000035.4(ALDOB):c.759C>T (p.Thr253=) rs146360505
NM_000035.4(ALDOB):c.849C>T (p.Asn283=) rs202062631
NM_000035.4(ALDOB):c.911G>A (p.Arg304Gln) rs145078268
NM_000037.4(ANK1):c.1153C>T (p.Arg385Cys) rs142626656
NM_000037.4(ANK1):c.1203C>T (p.Thr401=) rs145628190
NM_000037.4(ANK1):c.1320G>A (p.Pro440=) rs28533718
NM_000037.4(ANK1):c.1337G>C (p.Arg446Thr) rs142010751
NM_000037.4(ANK1):c.1484A>G (p.Asn495Ser) rs142690258
NM_000037.4(ANK1):c.1506C>T (p.Ala502=) rs34387324
NM_000037.4(ANK1):c.1563C>T (p.Ala521=) rs762615459
NM_000037.4(ANK1):c.1590C>T (p.Ala530=) rs61758865
NM_000037.4(ANK1):c.1782C>A (p.Ser594=) rs61753679
NM_000037.4(ANK1):c.183G>C (p.Val61=) rs61753680
NM_000037.4(ANK1):c.2167C>A (p.His723Asn) rs150899388
NM_000037.4(ANK1):c.2196+6G>A rs200761553
NM_000037.4(ANK1):c.2211C>G (p.Pro737=) rs34194642
NM_000037.4(ANK1):c.237C>T (p.Asn79=) rs372696694
NM_000037.4(ANK1):c.2403G>A (p.Lys801=) rs147130318
NM_000037.4(ANK1):c.2495G>A (p.Arg832Gln) rs34523608
NM_000037.4(ANK1):c.2589C>T (p.Pro863=) rs114870847
NM_000037.4(ANK1):c.2735+10G>A rs75296105
NM_000037.4(ANK1):c.2830G>A (p.Ala944Thr) rs35797405
NM_000037.4(ANK1):c.2960+13G>T rs200746947
NM_000037.4(ANK1):c.2982G>A (p.Pro994=) rs139623406
NM_000037.4(ANK1):c.3033C>T (p.Ser1011=) rs61758866
NM_000037.4(ANK1):c.3102C>T (p.Asn1034=) rs145169484
NM_000037.4(ANK1):c.3115+9G>A rs150850103
NM_000037.4(ANK1):c.3224C>T (p.Thr1075Ile) rs35213384
NM_000037.4(ANK1):c.3282G>A (p.Thr1094=) rs144821829
NM_000037.4(ANK1):c.3288G>A (p.Pro1096=) rs140964621
NM_000037.4(ANK1):c.3399C>T (p.Thr1133=) rs117516263
NM_000037.4(ANK1):c.3533-10G>A rs374510116
NM_000037.4(ANK1):c.3570A>C (p.Gly1190=) rs762382303
NM_000037.4(ANK1):c.3668T>C (p.Val1223Ala) rs185516533
NM_000037.4(ANK1):c.3813G>A (p.Glu1271=) rs16890758
NM_000037.4(ANK1):c.3984+9A>G rs369984591
NM_000037.4(ANK1):c.4008G>A (p.Pro1336=) rs147536061
NM_000037.4(ANK1):c.4022C>T (p.Ser1341Leu) rs145562489
NM_000037.4(ANK1):c.4341T>C (p.Ser1447=) rs112677283
NM_000037.4(ANK1):c.4385C>T (p.Ala1462Val) rs34664882
NM_000037.4(ANK1):c.447G>T (p.Ala149=) rs140550365
NM_000037.4(ANK1):c.4506C>T (p.Arg1502=) rs34265667
NM_000037.4(ANK1):c.450A>G (p.Val150=) rs6982971
NM_000037.4(ANK1):c.483G>A (p.Ala161=) rs200639644
NM_000037.4(ANK1):c.489C>T (p.Leu163=) rs34173100
NM_000037.4(ANK1):c.4974C>T (p.Asp1658=) rs149859024
NM_000037.4(ANK1):c.499G>C (p.Gly167Arg) rs201024919
NM_000037.4(ANK1):c.5376C>T (p.Thr1792=) rs147232364
NM_000037.4(ANK1):c.5601G>A (p.Ala1867=) rs150975400
NM_000037.4(ANK1):c.654C>A (p.Asn218Lys) rs61735313
NM_000037.4(ANK1):c.675C>T (p.Leu225=) rs146507999
NM_000037.4(ANK1):c.876G>A (p.Leu292=) rs373060967
NM_000037.4(ANK1):c.909+7A>G rs17661203
NM_000038.6(APC):c.120G>A (p.Glu40=) rs142720069
NM_000038.6(APC):c.1240C>T (p.Arg414Cys) rs137854567
NM_000038.6(APC):c.1312+12A>G rs372970635
NM_000038.6(APC):c.1488A>T (p.Thr496=) rs9282599
NM_000038.6(APC):c.1631T>C (p.Ile544Thr) rs144056494
NM_000038.6(APC):c.1722A>G (p.Glu574=) rs786201277
NM_000038.6(APC):c.1958+10G>T rs375175370
NM_000038.6(APC):c.1959G>A (p.Arg653=) rs72541809
NM_000038.6(APC):c.2205G>A (p.Ala735=) rs141001261
NM_000038.6(APC):c.2322C>T (p.Asp774=) rs145792879
NM_000038.6(APC):c.2547T>C (p.Asp849=) rs766086010
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.2805C>T (p.Tyr935=) rs137854575
NM_000038.6(APC):c.3006C>T (p.Ala1002=) rs72541810
NM_000038.6(APC):c.3165A>T (p.Ile1055=) rs61734287
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly) rs148725540
NM_000038.6(APC):c.3210T>C (p.Asn1070=) rs886059794
NM_000038.6(APC):c.3249T>G (p.Asp1083Glu) rs201629780
NM_000038.6(APC):c.3352A>G (p.Asn1118Asp) rs140493115
NM_000038.6(APC):c.3374T>C (p.Val1125Ala) rs377278397
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser) rs143638171
NM_000038.6(APC):c.3462AGA[2] (p.Glu1157del) rs386833391
NM_000038.6(APC):c.3471G>A (p.Glu1157=) rs143927847
NM_000038.6(APC):c.388A>G (p.Ser130Gly) rs150973053
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166
NM_000038.6(APC):c.4326T>A (p.Pro1442=) rs67622085
NM_000038.6(APC):c.4360A>G (p.Lys1454Glu) rs111866410
NM_000038.6(APC):c.4420G>A (p.Ala1474Thr) rs139387758
NM_000038.6(APC):c.450A>G (p.Lys150=) rs116020626
NM_000038.6(APC):c.4833G>A (p.Gln1611=) rs762030106
NM_000038.6(APC):c.4893T>C (p.Ser1631=) rs35634377
NM_000038.6(APC):c.4905G>A (p.Gly1635=) rs137988845
NM_000038.6(APC):c.4913T>C (p.Met1638Thr) rs201797422
NM_000038.6(APC):c.5140G>A (p.Asp1714Asn) rs148275069
NM_000038.6(APC):c.5225G>A (p.Arg1742His) rs199775075
NM_000038.6(APC):c.5265G>A (p.Ala1755=) rs34506289
NM_000038.6(APC):c.5363G>A (p.Arg1788His) rs201472075
NM_000038.6(APC):c.5465T>A (p.Val1822Asp) rs459552
NM_000038.6(APC):c.5790A>G (p.Gln1930=) rs141152252
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu) rs587780600
NM_000038.6(APC):c.5952T>C (p.Asn1984=) rs142019870
NM_000038.6(APC):c.607C>G (p.Gln203Glu) rs141576417
NM_000038.6(APC):c.6387G>A (p.Ser2129=) rs374310157
NM_000038.6(APC):c.647G>A (p.Arg216Gln) rs76685252
NM_000038.6(APC):c.6492C>T (p.Gly2164=) rs765332758
NM_000038.6(APC):c.6525A>G (p.Thr2175=) rs200151646
NM_000038.6(APC):c.6526T>C (p.Leu2176=) rs183468041
NM_000038.6(APC):c.6609T>C (p.Val2203=) rs149328018
NM_000038.6(APC):c.6624A>G (p.Glu2208=) rs886059798
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly) rs201375478
NM_000038.6(APC):c.6821C>T (p.Ala2274Val) rs34919187
NM_000038.6(APC):c.6873A>T (p.Gln2291His) rs148878262
NM_000038.6(APC):c.6921G>A (p.Ser2307=) rs2229993
NM_000038.6(APC):c.6985A>G (p.Ile2329Val) rs146048493
NM_000038.6(APC):c.7036C>T (p.Pro2346Ser) rs200756935
NM_000038.6(APC):c.705A>G (p.Leu235=) rs147036141
NM_000038.6(APC):c.7415C>T (p.Ala2472Val) rs200399245
NM_000038.6(APC):c.7490C>T (p.Ser2497Leu) rs141010008
NM_000038.6(APC):c.7504G>A (p.Gly2502Ser) rs2229995
NM_000038.6(APC):c.777G>T (p.Arg259=) rs147704593
NM_000038.6(APC):c.7781C>G (p.Ser2594Cys) rs543396310
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys) rs72541816
NM_000038.6(APC):c.7929A>G (p.Leu2643=) rs138796072
NM_000038.6(APC):c.8043G>C (p.Pro2681=) rs149347068
NM_000038.6(APC):c.8100T>C (p.Asn2700=) rs761326128
NM_000038.6(APC):c.8266A>G (p.Ile2756Val) rs146115809
NM_000043.6(FAS):c.183G>A (p.Lys61=) rs3218613
NM_000043.6(FAS):c.369G>A (p.Gln123=) rs28362318
NM_000043.6(FAS):c.46G>A (p.Ala16Thr) rs3218619
NM_000043.6(FAS):c.578A>G (p.Lys193Arg) rs150489856
NM_000043.6(FAS):c.580G>A (p.Glu194Lys) rs56006128
NM_000043.6(FAS):c.867A>C (p.Glu289Asp) rs377337130
NM_000045.4(ARG1):c.75A>G (p.Glu25=) rs755973004
NM_000045.4(ARG1):c.912C>T (p.Phe304=) rs373480378
NM_000045.4(ARG1):c.944T>C (p.Ile315Thr) rs202219126
NM_000046.5(ARSB):c.1078C>T (p.Leu360=) rs140923667
NM_000046.5(ARSB):c.1197C>G (p.Phe399Leu) rs200793396
NM_000046.5(ARSB):c.1224C>T (p.Asn408=)
NM_000046.5(ARSB):c.1337-3T>A rs183651028
NM_000046.5(ARSB):c.1373A>G (p.Asn458Ser) rs144222167
NM_000046.5(ARSB):c.317G>A (p.Arg106His) rs150087888
NM_000046.5(ARSB):c.82C>T (p.Leu28=) rs138587718
NM_000046.5(ARSB):c.98C>T (p.Ala33Val) rs201168448
NM_000048.4(ASL):c.1026G>C (p.Val342=) rs768461888
NM_000048.4(ASL):c.1056G>A (p.Thr352=) rs745476328
NM_000048.4(ASL):c.1124A>G (p.Tyr375Cys) rs886062406
NM_000048.4(ASL):c.1153C>T (p.Arg385Cys) rs28940286
NM_000048.4(ASL):c.1263G>A (p.Ser421=) rs542163407
NM_000048.4(ASL):c.1278C>T (p.Cys426=) rs140770112
NM_000048.4(ASL):c.1342G>A (p.Val448Ile)
NM_000048.4(ASL):c.162C>T (p.Leu54=) rs140221164
NM_000048.4(ASL):c.243G>C (p.Leu81=) rs774204716
NM_000048.4(ASL):c.35G>A (p.Arg12Gln) rs145138923
NM_000048.4(ASL):c.399G>A (p.Ser133=) rs141584041
NM_000048.4(ASL):c.401G>A (p.Gly134Asp) rs201352504
NM_000048.4(ASL):c.474C>T (p.Tyr158=)
NM_000048.4(ASL):c.656-5C>A rs201814807
NM_000048.4(ASL):c.75C>T (p.Asn25=) rs370260834
NM_000049.3(ASPA):c.212G>A (p.Arg71His) rs104894553
NM_000049.3(ASPA):c.237-2A>T rs780936696
NM_000049.3(ASPA):c.693C>T (p.Tyr231=) rs12948217
NM_000049.3(ASPA):c.906G>A (p.Thr302=) rs371394875
NM_000049.4(ASPA):c.634+1G>T rs753871454
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala) rs28940279
NM_000050.4(ASS1):c.323G>T rs35269064
NM_000051.3(ATM):c.1229T>C (p.Val410Ala) rs56128736
NM_000051.3(ATM):c.1254A>G (p.Gln418=) rs4987943
NM_000051.3(ATM):c.1272T>C (p.Pro424=) rs35578748
NM_000051.3(ATM):c.1355del (p.Thr452fs) rs587781776
NM_000051.3(ATM):c.1541G>A (p.Gly514Asp) rs2235000
NM_000051.3(ATM):c.162T>C (p.Tyr54=) rs3218690
NM_000051.3(ATM):c.1636C>G (p.Leu546Val) rs2227924
NM_000051.3(ATM):c.1744T>C (p.Phe582Leu) rs2235006
NM_000051.3(ATM):c.1748A>G (p.Tyr583Cys) rs587780614
NM_000051.3(ATM):c.186-7C>T rs55674039
NM_000051.3(ATM):c.1986T>C (p.Phe662=) rs1800055
NM_000051.3(ATM):c.2119T>C (p.Ser707Pro) rs4986761
NM_000051.3(ATM):c.2127T>C (p.Ile709=) rs56252953
NM_000051.3(ATM):c.2220A>G (p.Ala740=) rs56353517
NM_000051.3(ATM):c.2362A>C (p.Ser788Arg) rs641252
NM_000051.3(ATM):c.2572T>C (p.Phe858Leu) rs1800056
NM_000051.3(ATM):c.2614C>T (p.Pro872Ser) rs3218673
NM_000051.3(ATM):c.2778A>G (p.Lys926=) rs372569168
NM_000051.3(ATM):c.2805G>C (p.Thr935=) rs55934812
NM_000051.3(ATM):c.3014A>G (p.Asn1005Ser) rs146531614
NM_000051.3(ATM):c.3150T>C (p.Leu1050=) rs3092859
NM_000051.3(ATM):c.3161C>G (p.Pro1054Arg) rs1800057
NM_000051.3(ATM):c.3284+8dup rs886047611
NM_000051.3(ATM):c.3285-9del rs1799757
NM_000051.3(ATM):c.3300G>A (p.Thr1100=) rs587780621
NM_000051.3(ATM):c.3342G>A (p.Lys1114=) rs138393322
NM_000051.3(ATM):c.3383A>G (p.Gln1128Arg) rs2229020
NM_000051.3(ATM):c.3403-15T>A rs79701258
NM_000051.3(ATM):c.370A>G (p.Ile124Val) rs148590073
NM_000051.3(ATM):c.3919G>A (p.Gly1307Arg) rs568451087
NM_000051.3(ATM):c.3982T>C (p.Leu1328=) rs876658204
NM_000051.3(ATM):c.4066A>G (p.Asn1356Asp) rs147600485
NM_000051.3(ATM):c.411C>T (p.Tyr137=) rs756160533
NM_000051.3(ATM):c.4258C>T (p.Leu1420Phe) rs1800058
NM_000051.3(ATM):c.4365T>A (p.Ser1455Arg) rs527471560
NM_000051.3(ATM):c.4436+10A>G rs878853509
NM_000051.3(ATM):c.4473C>T (p.Phe1491=) rs4988008
NM_000051.3(ATM):c.4724G>A (p.Arg1575His) rs550552791
NM_000051.3(ATM):c.4949A>G (p.Asn1650Ser) rs55870064
NM_000051.3(ATM):c.5002C>T (p.Leu1668=) rs747317946
NM_000051.3(ATM):c.5005+7_5005+8del rs587780626
NM_000051.3(ATM):c.544G>C (p.Val182Leu) rs3218707
NM_000051.3(ATM):c.5497-8T>C rs3092829
NM_000051.3(ATM):c.5558A>T (p.Asp1853Val) rs1801673
NM_000051.3(ATM):c.5675-4T>A rs56075338
NM_000051.3(ATM):c.6088A>G (p.Ile2030Val) rs145847315
NM_000051.3(ATM):c.609C>T (p.Asp203=) rs144709948
NM_000051.3(ATM):c.6108T>C (p.Tyr2036=) rs3092826
NM_000051.3(ATM):c.610G>A (p.Gly204Arg) rs147915571
NM_000051.3(ATM):c.6234C>T (p.Ser2078=) rs569483748
NM_000051.3(ATM):c.6235G>A (p.Val2079Ile) rs1800060
NM_000051.3(ATM):c.6318T>C (p.Asn2106=) rs864622730
NM_000051.3(ATM):c.6382T>C (p.Leu2128=) rs753646931
NM_000051.3(ATM):c.6437G>C (p.Ser2146Thr) rs56815840
NM_000051.3(ATM):c.6465G>A (p.Val2155=) rs140423883
NM_000051.3(ATM):c.660G>A (p.Ala220=) rs763669136
NM_000051.3(ATM):c.6919C>T (p.Leu2307Phe) rs56009889
NM_000051.3(ATM):c.7044G>A (p.Thr2348=) rs140104789
NM_000051.3(ATM):c.735C>T (p.Val245=) rs3218674
NM_000051.3(ATM):c.7381C>T (p.Arg2461Cys) rs201314561
NM_000051.3(ATM):c.7390T>C (p.Cys2464Arg) rs55801750
NM_000051.3(ATM):c.7542T>C (p.Tyr2514=) rs777925486
NM_000051.3(ATM):c.7788+8G>T rs112775908
NM_000051.3(ATM):c.8391T>C (p.Ser2797=) rs566485657
NM_000051.3(ATM):c.8532T>C (p.Ile2844=) rs730881278
NM_000051.3(ATM):c.8671+9T>G rs200190537
NM_000051.3(ATM):c.8786+8A>C rs4986839
NM_000051.3(ATM):c.8968G>A (p.Glu2990Lys) rs1800558
NM_000051.3(ATM):c.998C>T (p.Ser333Phe) rs28904919
NM_000051.4(ATM):c.1066-6T>G rs201686625
NM_000051.4(ATM):c.146C>G rs1800054
NM_000051.4(ATM):c.1703G>T (p.Arg568Ile) rs200381392
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu) rs34231402
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys) rs2229022
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233
NM_000051.4(ATM):c.295A>G (p.Ser99Gly) rs137882485
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr) rs145119475
NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu) rs141087784
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) rs140856217
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059
NM_000051.4(ATM):c.5793T>C (p.Ala1931=) rs3092910
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu) rs147187700
NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu) rs201963507
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr) rs150757822
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) rs11212587
NM_000051.4(ATM):c.6795C>T rs3218699
NM_000051.4(ATM):c.6820G>A (p.Ala2274Thr) rs567060474
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser) rs370559102
NM_000051.4(ATM):c.7705_7706del (p.Arg2568_Asp2569insTer) rs759965045
NM_000053.4(ATP7B):c.*16G>A rs193922100
NM_000053.4(ATP7B):c.-123_-119dupCGCCG rs148013251
NM_000053.4(ATP7B):c.1122C>G (p.Val374=) rs201254466
NM_000053.4(ATP7B):c.1172C>T (p.Ser391Leu) rs750724856
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967
NM_000053.4(ATP7B):c.1230A>G (p.Pro410=) rs772843652
NM_000053.4(ATP7B):c.1278C>T (p.Val426=) rs143556945
NM_000053.4(ATP7B):c.1426G>A (p.Ala476Thr) rs139289704
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala) rs138427376
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=) rs145798966
NM_000053.4(ATP7B):c.1728G>A (p.Ala576=) rs116703544
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.1947-4C>T rs74904335
NM_000053.4(ATP7B):c.1993A>G (p.Met665Val) rs146303208
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259
NM_000053.4(ATP7B):c.2175G>A (p.Arg725=) rs61733684
NM_000053.4(ATP7B):c.2190C>T (p.Asp730=) rs550565277
NM_000053.4(ATP7B):c.2286A>T (p.Thr762=) rs750477816
NM_000053.4(ATP7B):c.2310C>G (p.Leu770=) rs398123136
NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu) rs28942074
NM_000053.4(ATP7B):c.2355+13T>G rs139211339
NM_000053.4(ATP7B):c.2436T>C (p.Asn812=) rs533967323
NM_000053.4(ATP7B):c.2484C>T (p.Gly828=) rs570594838
NM_000053.4(ATP7B):c.2544C>T (p.Gly848=) rs200996053
NM_000053.4(ATP7B):c.2681C>T (p.Thr894Ile) rs1340729837
NM_000053.4(ATP7B):c.2755C>T (p.Arg919Trp) rs121907993
NM_000053.4(ATP7B):c.2785A>G (p.Ile929Val) rs534960245
NM_000053.4(ATP7B):c.2955C>T (p.Cys985=) rs116587608
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782
NM_000053.4(ATP7B):c.2976C>A (p.Pro992=) rs746358240
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=) rs1801248
NM_000053.4(ATP7B):c.3069T>C (p.Thr1023=) rs187343742
NM_000053.4(ATP7B):c.3105C>T (p.Gly1035=) rs200324179
NM_000053.4(ATP7B):c.3114G>A (p.Arg1038=)
NM_000053.4(ATP7B):c.3121C>T (p.Arg1041Trp) rs746485916
NM_000053.4(ATP7B):c.3160A>C (p.Arg1054=) rs377586515
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala) rs374094065
NM_000053.4(ATP7B):c.325C>T (p.Leu109=) rs751920801
NM_000053.4(ATP7B):c.3316G>A (p.Val1106Ile) rs541208827
NM_000053.4(ATP7B):c.3369G>A (p.Pro1123=) rs61733679
NM_000053.4(ATP7B):c.3396C>T (p.Ser1132=) rs370947152
NM_000053.4(ATP7B):c.3402C>T (p.Pro1134=) rs145887771
NM_000053.4(ATP7B):c.3422C>G (p.Pro1141Arg) rs757549770
NM_000053.4(ATP7B):c.3498T>C (p.Ser1166=) rs587783314
NM_000053.4(ATP7B):c.3517G>A (p.Glu1173Lys) rs756029120
NM_000053.4(ATP7B):c.3557-6C>T rs140708492
NM_000053.4(ATP7B):c.3582C>T (p.Ile1194=) rs761183334
NM_000053.4(ATP7B):c.3588C>T (p.Asp1196=) rs11840224
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg) rs7334118
NM_000053.4(ATP7B):c.3625C>T (p.Leu1209=)
NM_000053.4(ATP7B):c.363C>T (p.Phe121=)
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val) rs200911496
NM_000053.4(ATP7B):c.3885C>T (p.Ala1295=) rs200597654
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn) rs199821556
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile) rs148399850
NM_000053.4(ATP7B):c.3891C>T (p.Val1297=) rs114771537
NM_000053.4(ATP7B):c.406A>G (p.Arg136Gly) rs557577836
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser) rs181250704
NM_000053.4(ATP7B):c.4251A>G (p.Thr1417=) rs546721020
NM_000053.4(ATP7B):c.4311G>A (p.Lys1437=) rs73202048
NM_000053.4(ATP7B):c.445G>A (p.Val149Met) rs200606656
NM_000053.4(ATP7B):c.51+4A>T rs369488210
NM_000053.4(ATP7B):c.740A>G (p.Glu247Gly) rs376398239
NM_000053.4(ATP7B):c.813C>T (p.Cys271=) rs572147914
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.1072T>A (p.Leu358Ile) rs121918557
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_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057
NM_000057.4(BLM):c.1315A>G (p.Met439Val) rs201231857
NM_000057.4(BLM):c.1467G>A (p.Arg489=) rs56257041
NM_000057.4(BLM):c.1785A>T (p.Ser595=) rs79871543
NM_000057.4(BLM):c.178T>A (p.Leu60Ile) rs138542210
NM_000057.4(BLM):c.1928G>A (p.Arg643His) rs12720097
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser) rs146077918
NM_000057.4(BLM):c.2160C>T (p.Ile720=) rs28385028
NM_000057.4(BLM):c.2268A>G (p.Lys756=) rs146013879
NM_000057.4(BLM):c.2333C>G (p.Ser778Cys) rs139610577
NM_000057.4(BLM):c.2362C>A (p.Leu788Ile) rs149754073
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu) rs2227935
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter) rs587779884
NM_000057.4(BLM):c.2739C>T (p.Leu913=) rs759223856
NM_000057.4(BLM):c.2839A>G (p.Ile947Val) rs189925962
NM_000057.4(BLM):c.2898C>G (p.Leu966=) rs201220226
NM_000057.4(BLM):c.3041A>G (p.His1014Arg) rs145022945
NM_000057.4(BLM):c.3128C>A (p.Ala1043Asp) rs2229035
NM_000057.4(BLM):c.3558+1G>T rs148969222
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr) rs1801256
NM_000057.4(BLM):c.3751+10C>T rs199685140
NM_000057.4(BLM):c.3798T>G (p.Val1266=) rs138831180
NM_000057.4(BLM):c.3828G>A (p.Ala1276=) rs369383272
NM_000057.4(BLM):c.3849G>A (p.Gln1283=) rs140524886
NM_000057.4(BLM):c.3879A>G (p.Glu1293=) rs28377085
NM_000057.4(BLM):c.3933C>T (p.Ala1311=) rs756451802
NM_000057.4(BLM):c.4076+4T>G rs183176301
NM_000057.4(BLM):c.4077-10C>T rs145310008
NM_000057.4(BLM):c.4113G>A (p.Thr1371=) rs61754135
NM_000057.4(BLM):c.4251A>C (p.Ser1417=) rs886051553
NM_000057.4(BLM):c.696C>A (p.Ser232Arg) rs201845548
NM_000059.3(BRCA2):c.*105A>C rs15869
NM_000059.3(BRCA2):c.*390A>G rs56003538
NM_000059.3(BRCA2):c.*841A>G rs186619625
NM_000059.3(BRCA2):c.*842A>G rs192347116
NM_000059.3(BRCA2):c.-11C>T rs76874770
NM_000059.3(BRCA2):c.-175C>T rs55880202
NM_000059.3(BRCA2):c.-59_-57del rs545321666
NM_000059.3(BRCA2):c.1166C>A (p.Pro389Gln) rs397507263
NM_000059.3(BRCA2):c.1247T>G (p.Ile416Ser) rs80358418
NM_000059.3(BRCA2):c.1275A>G (p.Glu425=) rs34355306
NM_000059.3(BRCA2):c.1460C>A (p.Ala487Glu) rs56390402
NM_000059.3(BRCA2):c.1762A>G (p.Asn588Asp) rs398122731
NM_000059.3(BRCA2):c.1788T>C (p.Asp596=) rs11571642
NM_000059.3(BRCA2):c.1889C>T (p.Thr630Ile) rs80358479
NM_000059.3(BRCA2):c.198A>G (p.Gln66=) rs28897700
NM_000059.3(BRCA2):c.2025A>G (p.Thr675=) rs147381487
NM_000059.3(BRCA2):c.2186T>C (p.Ile729Thr) rs431825296
NM_000059.3(BRCA2):c.2412A>G (p.Glu804=) rs587780866
NM_000059.3(BRCA2):c.2526A>G (p.Val842=) rs770778164
NM_000059.3(BRCA2):c.267G>A (p.Pro89=) rs587780648
NM_000059.3(BRCA2):c.2786T>C (p.Leu929Ser) rs2227943
NM_000059.3(BRCA2):c.2803G>C (p.Asp935His) rs28897716
NM_000059.3(BRCA2):c.2960A>T (p.Asn987Ile) rs2227944
NM_000059.3(BRCA2):c.3445A>G (p.Met1149Val) rs80358589
NM_000059.3(BRCA2):c.3495T>C (p.His1165=) rs776655838
NM_000059.3(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000059.3(BRCA2):c.4241C>T (p.Thr1414Met) rs70953664
NM_000059.3(BRCA2):c.4584C>T (p.Ser1528=) rs80359788
NM_000059.3(BRCA2):c.4599A>C (p.Lys1533Asn) rs80358694
NM_000059.3(BRCA2):c.4686A>G (p.Gln1562=) rs28897730
NM_000059.3(BRCA2):c.4828G>A (p.Val1610Met) rs80358705
NM_000059.3(BRCA2):c.506A>G (p.Lys169Arg) rs80358730
NM_000059.3(BRCA2):c.517-4C>G rs81002804
NM_000059.3(BRCA2):c.5268A>G (p.Val1756=) rs199879914
NM_000059.3(BRCA2):c.5319G>A (p.Glu1773=) rs376257217
NM_000059.3(BRCA2):c.5455C>T (p.Pro1819Ser) rs80358768
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048
NM_000059.3(BRCA2):c.6131G>T (p.Gly2044Val) rs56191579
NM_000059.3(BRCA2):c.6237G>A (p.Val2079=) rs864622516
NM_000059.3(BRCA2):c.6325G>A (p.Val2109Ile) rs79456940
NM_000059.3(BRCA2):c.6412G>T (p.Val2138Phe) rs11571659
NM_000059.3(BRCA2):c.6540G>C (p.Leu2180Phe) rs398122560
NM_000059.3(BRCA2):c.6560C>T (p.Pro2187Leu) rs56019712
NM_000059.3(BRCA2):c.6706G>A (p.Glu2236Lys) rs41293503
NM_000059.3(BRCA2):c.6785T>G (p.Met2262Arg) rs80358904
NM_000059.3(BRCA2):c.6821G>T (p.Gly2274Val) rs55712212
NM_000059.3(BRCA2):c.6886A>C (p.Ile2296Leu) rs576279166
NM_000059.3(BRCA2):c.6935A>T (p.Asp2312Val) rs80358916
NM_000059.3(BRCA2):c.7052C>G (p.Ala2351Gly) rs80358932
NM_000059.3(BRCA2):c.7104G>A (p.Leu2368=) rs764698623
NM_000059.3(BRCA2):c.7188G>A (p.Leu2396=) rs587780871
NM_000059.3(BRCA2):c.7626G>A (p.Thr2542=) rs61754138
NM_000059.3(BRCA2):c.7976+12G>A rs81002827
NM_000059.3(BRCA2):c.8165C>G (p.Thr2722Arg) rs80359062
NM_000059.3(BRCA2):c.8187G>T (p.Lys2729Asn) rs80359065
NM_000059.3(BRCA2):c.8215G>A (p.Val2739Ile) rs80359069
NM_000059.3(BRCA2):c.847A>G (p.Ile283Val) rs80359097
NM_000059.3(BRCA2):c.9032T>C (p.Leu3011Pro) rs80359155
NM_000059.3(BRCA2):c.909T>G (p.Ser303=) rs757430441
NM_000059.3(BRCA2):c.9433G>C (p.Val3145Leu) rs587776476
NM_000059.3(BRCA2):c.943T>A (p.Cys315Ser) rs79483201
NM_000059.3(BRCA2):c.9501+9A>C rs81002867
NM_000059.3(BRCA2):c.956A>C (p.Asn319Thr) rs55939572
NM_000059.3(BRCA2):c.9592T>C (p.Cys3198Arg) rs80359229
NM_000059.3(BRCA2):c.9606G>A (p.Pro3202=) rs755890067
NM_000059.3(BRCA2):c.963A>G (p.Gln321=) rs276174927
NM_000059.3(BRCA2):c.9924C>T (p.Tyr3308=) rs4987049
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=) rs28897762
NM_000059.4(BRCA2):c.10203G>A (p.Thr3401=) rs147854265
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) rs144848
NM_000059.4(BRCA2):c.1144A>C (p.Lys382Gln) rs371454630
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710
NM_000059.4(BRCA2):c.1798T>C (p.Tyr600His) rs75419644
NM_000059.4(BRCA2):c.179A>G (p.Asn60Ser) rs80358463
NM_000059.4(BRCA2):c.1909+9_1909+10del rs527732001
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712
NM_000059.4(BRCA2):c.2350A>G (p.Met784Val) rs11571653
NM_000059.4(BRCA2):c.2416G>C (p.Asp806His) rs56404215
NM_000059.4(BRCA2):c.2538A>C (p.Ser846=) rs11571654
NM_000059.4(BRCA2):c.2550A>G (p.Gln850=) rs80359785
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn) rs28897716
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=) rs11571655
NM_000059.4(BRCA2):c.2919G>A (p.Ser973=) rs45525041
NM_000059.4(BRCA2):c.2987T>G (p.Leu996Arg) rs80358545
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=) rs36060526
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=) rs1799952
NM_000059.4(BRCA2):c.3581G>A (p.Gly1194Asp) rs28897721
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727
NM_000059.4(BRCA2):c.440A>G (p.Gln147Arg) rs80358674
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg) rs28897728
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755
NM_000059.4(BRCA2):c.5635G>A (p.Glu1879Lys) rs55996097
NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys) rs11571657
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117
NM_000059.4(BRCA2):c.5752C>T (p.His1918Tyr) rs80358803
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550
NM_000059.4(BRCA2):c.5986G>A (p.Ala1996Thr) rs80358833
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954
NM_000059.4(BRCA2):c.6220C>A (p.His2074Asn) rs34309943
NM_000059.4(BRCA2):c.6317T>C (p.Leu2106Pro) rs56172926
NM_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys) rs55794205
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His) rs35029074
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg) rs55953736
NM_000059.4(BRCA2):c.68-7T>A rs81002830
NM_000059.4(BRCA2):c.6853A>G (p.Ile2285Val) rs56272235
NM_000059.4(BRCA2):c.7017G>C (p.Lys2339Asn) rs45574331
NM_000059.4(BRCA2):c.7057G>C (p.Gly2353Arg) rs80358935
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg) rs4986860
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707
NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744
NM_000059.4(BRCA2):c.7994A>G (p.Asp2665Gly) rs28897745
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749
NM_000059.4(BRCA2):c.8460A>C (p.Val2820=) rs9590940
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769
NM_000059.4(BRCA2):c.8905G>A (p.Val2969Met) rs59004709
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755
NM_000059.4(BRCA2):c.9235G>A (p.Val3079Ile) rs55933907
NM_000059.4(BRCA2):c.9501+3A>T rs61757642
NM_000059.4(BRCA2):c.9502-12T>G rs81002803
NM_000059.4(BRCA2):c.956A>G (p.Asn319Ser) rs55939572
NM_000059.4(BRCA2):c.964A>C (p.Lys322Gln) rs11571640
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg) rs28897706
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833
NM_000061.2(BTK):c.1909-9T>C rs782702231
NM_000061.2(BTK):c.852A>G (p.Lys284=) rs1057515724
NM_000061.3(BTK):c.615G>T (p.Glu205Asp) rs35877704
NM_000063.6(C2):c.954G>C (p.Glu318Asp) rs9332739
NM_000064.4(C3):c.1407G>C (p.Glu469Asp) rs11569422
NM_000064.4(C3):c.1873A>T (p.Ile625Phe) rs144432231
NM_000067.3(CA2):c.472A>G (p.Lys158Glu)
NM_000067.3(CA2):c.754A>G (p.Asn252Asp) rs2228063
NM_000069.3(CACNA1S):c.1629G>T (p.Thr543=) rs143999390
NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu) rs141204958
NM_000070.3(CAPN3):c.-104G>C rs149698681
NM_000070.3(CAPN3):c.1002C>T (p.His334=)
NM_000070.3(CAPN3):c.1029+3A>G rs28364442
NM_000070.3(CAPN3):c.1045G>C (p.Glu349Gln) rs146403258
NM_000070.3(CAPN3):c.1116-5A>G rs28364467
NM_000070.3(CAPN3):c.1350C>T (p.Phe450=) rs144944366
NM_000070.3(CAPN3):c.1355-6G>A rs28364485
NM_000070.3(CAPN3):c.1435A>G (p.Ser479Gly) rs201736037
NM_000070.3(CAPN3):c.1437C>T (p.Ser479=) rs147914333
NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln) rs121434548
NM_000070.3(CAPN3):c.1557C>T (p.His519=) rs368385372
NM_000070.3(CAPN3):c.1643G>A (p.Arg548His) rs146309264
NM_000070.3(CAPN3):c.1795dup (p.Thr599fs) rs80338803
NM_000070.3(CAPN3):c.1830C>T (p.Asn610=) rs202019404
NM_000070.3(CAPN3):c.1842G>C (p.Glu614Asp) rs201607149
NM_000070.3(CAPN3):c.1947G>A (p.Glu649=) rs79440238
NM_000070.3(CAPN3):c.2088C>T (p.Ser696=) rs867628179
NM_000070.3(CAPN3):c.2235C>T (p.Tyr745=) rs147774793
NM_000070.3(CAPN3):c.2257G>A (p.Asp753Asn) rs146923842
NM_000070.3(CAPN3):c.2264-11C>T rs28364537
NM_000070.3(CAPN3):c.2269C>T (p.His757Tyr) rs148246325
NM_000070.3(CAPN3):c.232C>A (p.Pro78Thr) rs138867099
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn) rs115311625
NM_000070.3(CAPN3):c.2380+12del rs28364538
NM_000070.3(CAPN3):c.2381-12A>G rs73402734
NM_000070.3(CAPN3):c.2393C>A (p.Ala798Glu) rs149095128
NM_000070.3(CAPN3):c.2409A>G (p.Gly803=) rs143139259
NM_000070.3(CAPN3):c.2433T>C (p.Val811=) rs28364543
NM_000070.3(CAPN3):c.318C>T (p.Cys106=) rs117609395
NM_000070.3(CAPN3):c.479C>G (p.Ala160Gly) rs17592
NM_000070.3(CAPN3):c.495C>T (p.Phe165=) rs1801324
NM_000070.3(CAPN3):c.525C>T (p.Asp175=) rs144383442
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800
NM_000070.3(CAPN3):c.552G>A (p.Thr184=) rs147808529
NM_000070.3(CAPN3):c.606T>C (p.Ser202=) rs17593
NM_000070.3(CAPN3):c.62G>A (p.Gly21Glu) rs28364364
NM_000070.3(CAPN3):c.73C>T (p.His25Tyr) rs61735534
NM_000070.3(CAPN3):c.78G>A (p.Pro26=) rs62642519
NM_000070.3(CAPN3):c.930T>C (p.Asp310=) rs150356488
NM_000070.3(CAPN3):c.96T>C (p.Thr32=) rs1801496
NM_000070.3(CAPN3):c.984C>T (p.Cys328=) rs28364441
NM_000071.2(CBS):c.1059G>A (p.Thr353=) rs61735859
NM_000071.2(CBS):c.1065G>A (p.Ala355=) rs748552493
NM_000071.2(CBS):c.1145+7C>T rs201158177
NM_000071.2(CBS):c.1161C>T (p.Ser387=) rs149280976
NM_000071.2(CBS):c.1265C>T (p.Pro422Leu) rs28934892
NM_000071.2(CBS):c.1330G>A (p.Asp444Asn) rs28934891
NM_000071.2(CBS):c.1425G>A (p.Pro475=) rs147885808
NM_000071.2(CBS):c.1479G>A (p.Thr493=) rs143225442
NM_000071.2(CBS):c.162G>A (p.Trp54Ter) rs199948079
NM_000071.2(CBS):c.1643G>A (p.Arg548Gln) rs150828989
NM_000071.2(CBS):c.215A>T (p.Lys72Ile) rs192232907
NM_000071.2(CBS):c.361C>T (p.Arg121Cys) rs775992753
NM_000071.2(CBS):c.373C>T (p.Arg125Trp) rs886057100
NM_000071.2(CBS):c.52C>T (p.Arg18Cys) rs201827340
NM_000071.2(CBS):c.600G>A (p.Pro200=) rs181472622
NM_000071.2(CBS):c.612G>T (p.Val204=) rs539670390
NM_000071.2(CBS):c.894G>A (p.Gln298=) rs370514077
NM_000071.2(CBS):c.924C>T (p.Tyr308=) rs149809170
NM_000071.2(CBS):c.954+8G>A rs76292057
NM_000071.3(CBS):c.*540G>A rs111386779
NM_000071.3(CBS):c.1017C>T (p.Ile339=)
NM_000071.3(CBS):c.304A>C (p.Lys102Gln) rs34040148
NM_000071.3(CBS):c.531+11G>A rs186114513
NM_000073.2(CD3G):c.-46_-43delGCTG rs60810919
NM_000073.2(CD3G):c.158T>C (p.Ile53Thr) rs142915569
NM_000073.2(CD3G):c.213del (p.Lys71fs) rs570768621
NM_000073.2(CD3G):c.496C>A (p.Arg166=) rs201529449
NM_000073.2(CD3G):c.511T>C (p.Tyr171His) rs148191859
NM_000073.2(CD3G):c.56G>A (p.Gly19Asp) rs146393315
NM_000073.2(CD3G):c.79+10A>G rs115851096
NM_000075.4(CDK4):c.122A>G (p.Asn41Ser) rs144890720
NM_000075.4(CDK4):c.763C>T (p.Arg255Cys) rs587778188
NM_000078.3(CETP):c.1376A>G (p.Asp459Gly) rs2303790
NM_000078.3(CETP):c.663C>A (p.Ser221Arg) rs201438792
NM_000079.4(CHRNA1):c.2T>C (p.Met1Thr)
NM_000079.4(CHRNA1):c.711C>T (p.Asn237=)
NM_000080.4(CHRNE):c.1071G>A (p.Pro357=) rs772143528
NM_000080.4(CHRNE):c.1104C>T (p.Pro368=) rs767374241
NM_000080.4(CHRNE):c.1374C>T (p.Cys458=) rs201030784
NM_000080.4(CHRNE):c.1383C>G (p.Ala461=) rs570378547
NM_000080.4(CHRNE):c.1416C>T (p.Leu472=) rs145456588
NM_000080.4(CHRNE):c.183_187dup (p.Leu63fs) rs776927709
NM_000080.4(CHRNE):c.23T>C (p.Val8Ala) rs199807050
NM_000080.4(CHRNE):c.6A>G (p.Ala2=) rs202198207
NM_000080.4(CHRNE):c.710G>T (p.Arg237Leu) rs201434993
NM_000080.4(CHRNE):c.797C>T (p.Ala266Val) rs201463598
NM_000080.4(CHRNE):c.802+7A>C rs756213406
NM_000081.4(LYST):c.10758C>T (p.Cys3586=) rs145136281
NM_000081.4(LYST):c.11229A>G (p.Arg3743=)
NM_000081.4(LYST):c.2150A>G (p.Asn717Ser) rs201255245
NM_000081.4(LYST):c.4006+8G>A rs369153654
NM_000081.4(LYST):c.4548C>T (p.Ser1516=) rs116551057
NM_000081.4(LYST):c.7137A>C (p.Leu2379=) rs61738992
NM_000081.4(LYST):c.7911G>A (p.Thr2637=) rs140229368
NM_000081.4(LYST):c.9244T>C (p.Leu3082=)
NM_000081.4(LYST):c.9990G>A (p.Ala3330=)
NM_000081.4(LYST):c.9C>T (p.Thr3=) rs33998267
NM_000083.3(CLCN1):c.1832G>A (p.Arg611His)
NM_000083.3(CLCN1):c.1842G>C (p.Lys614Asn) rs140205115
NM_000083.3(CLCN1):c.1863A>G (p.Thr621=) rs369099862
NM_000083.3(CLCN1):c.1892C>T (p.Thr631Ile) rs749762818
NM_000083.3(CLCN1):c.2545G>A (p.Ala849Thr) rs201861334
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271
NM_000083.3(CLCN1):c.2864A>T (p.Glu955Val) rs150796358
NM_000083.3(CLCN1):c.2901C>T (p.Ala967=) rs143082508
NM_000083.3(CLCN1):c.313C>T (p.Arg105Cys) rs201509501
NM_000083.3(CLCN1):c.314G>A (p.Arg105His) rs756353660
NM_000083.3(CLCN1):c.412G>A (p.Val138Ile) rs762344462
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531
NM_000083.3(CLCN1):c.563-9C>T rs201404573
NM_000083.3(CLCN1):c.86A>C (p.His29Pro) rs146160029
NM_000083.3(CLCN1):c.900G>A (p.Arg300=) rs149578972
NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser) rs80356701
NM_000086.2(CLN3):c.*29A>G rs778438984
NM_000086.2(CLN3):c.1210C>A (p.His404Asn) rs146610181
NM_000086.2(CLN3):c.1211A>G (p.His404Arg) rs77595156
NM_000086.2(CLN3):c.313A>G (p.Ile105Val) rs11552531
NM_000086.2(CLN3):c.418G>A (p.Val140Ile) rs373034150
NM_000086.2(CLN3):c.47-1G>A rs1555469477
NM_000086.2(CLN3):c.677+8G>A rs368568189
NM_000086.2(CLN3):c.768C>T (p.Thr256=) rs145967477
NM_000087.4(CNGA1):c.515T>G (p.Ile172Ser) rs373448145
NM_000087.4(CNGA1):c.839G>A (p.Arg280His) rs375412499
NM_000088.3(COL1A1):c.*243_*244dup rs56302025
NM_000088.3(COL1A1):c.1768-8C>T rs193922142
NM_000088.3(COL1A1):c.2595C>T (p.Arg865=) rs117672175
NM_000088.3(COL1A1):c.613C>G (p.Pro205Ala) rs72667032
NM_000089.3(COL1A2):c.1350+11A>T rs193922160
NM_000089.3(COL1A2):c.1383C>T (p.Pro461=) rs139726213
NM_000089.3(COL1A2):c.3018C>T (p.Gly1006=) rs62001059
NM_000089.3(COL1A2):c.3336C>T (p.Tyr1112=) rs34691365
NM_000089.3(COL1A2):c.948C>T (p.Gly316=) rs34511999
NM_000090.3(COL3A1):c.114C>G (p.Ser38=) rs141241764
NM_000090.3(COL3A1):c.1509+5A>G rs572863064
NM_000090.3(COL3A1):c.1697C>T (p.Pro566Leu) rs150543864
NM_000090.3(COL3A1):c.1804C>A (p.Pro602Thr) rs35795890
NM_000090.3(COL3A1):c.1856C>T (p.Pro619Leu) rs373838193
NM_000090.3(COL3A1):c.1995C>T (p.Ala665=) rs149093989
NM_000090.3(COL3A1):c.217G>C (p.Asp73His) rs200246388
NM_000090.3(COL3A1):c.226A>G (p.Asn76Asp) rs142045411
NM_000090.3(COL3A1):c.2364A>G (p.Pro788=) rs886055332
NM_000090.3(COL3A1):c.2490G>A (p.Pro830=) rs777361888
NM_000090.3(COL3A1):c.2723C>T (p.Ala908Val) rs144036995
NM_000090.3(COL3A1):c.2805T>C (p.Pro935=) rs111567071
NM_000090.3(COL3A1):c.2958C>T (p.Asn986=) rs41264441
NM_000090.3(COL3A1):c.3132C>T (p.Gly1044=) rs369992399
NM_000090.3(COL3A1):c.3390C>T (p.Ile1130=) rs148918486
NM_000090.3(COL3A1):c.3413C>T (p.Pro1138Leu) rs201880122
NM_000090.3(COL3A1):c.3642C>A (p.Gly1214=) rs184402915
NM_000090.3(COL3A1):c.3694G>A (p.Asp1232Asn) rs147663769
NM_000090.3(COL3A1):c.3775G>A (p.Ala1259Thr) rs776478974
NM_000090.3(COL3A1):c.3777T>C (p.Ala1259=) rs34781844
NM_000090.3(COL3A1):c.3818A>G (p.Lys1273Arg) rs144614075
NM_000090.3(COL3A1):c.4020C>T (p.Tyr1340=) rs766750333
NM_000090.3(COL3A1):c.4021G>A (p.Gly1341Ser) rs140646380
NM_000090.3(COL3A1):c.505C>T (p.Leu169Phe) rs111391222
NM_000090.3(COL3A1):c.515A>C (p.Tyr172Ser) rs771654029
NM_000090.3(COL3A1):c.812G>A (p.Arg271Gln) rs112185887
NM_000090.4(COL3A1):c.119C>T (p.Ala40Val) rs201380807
NM_000090.4(COL3A1):c.2002C>A (p.Pro668Thr) rs1801183
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210
NM_000090.4(COL3A1):c.3165C>T (p.Val1055=) rs1576471851
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783
NM_000091.4(COL4A3):c.3939G>A (p.Gly1313=) rs141552752
NM_000091.4(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125
NM_000091.4(COL4A3):c.4494C>G (p.Thr1498=) rs200454769
NM_000091.4(COL4A3):c.4893C>T (p.Phe1631=) rs183218622
NM_000091.4(COL4A3):c.688-8G>T rs748843785
NM_000091.5(COL4A3):c.1352A>G (p.His451Arg) rs11677877
NM_000091.5(COL4A3):c.2475G>C (p.Leu825Phe)
NM_000091.5(COL4A3):c.2715C>T (p.Pro905=) rs75519005
NM_000091.5(COL4A3):c.3258G>A (p.Gly1086=) rs147085074
NM_000092.4(COL4A4):c.1435G>C (p.Gly479Arg) rs202210475
NM_000092.4(COL4A4):c.1893A>G (p.Gly631=) rs370886041
NM_000092.4(COL4A4):c.2008G>A (p.Val670Ile) rs34236495
NM_000092.4(COL4A4):c.2430C>G (p.Gly810=) rs769363556
NM_000092.4(COL4A4):c.2439A>T (p.Gly813=) rs34835657
NM_000092.4(COL4A4):c.3486A>G (p.Pro1162=) rs2229815
NM_000092.4(COL4A4):c.4195A>T (p.Met1399Leu) rs149117087
NM_000092.4(COL4A4):c.50A>G (p.Lys17Arg) rs114969026
NM_000092.4(COL4A4):c.541G>T (p.Ala181Ser) rs200707549
NM_000092.5(COL4A4):c.1202C>T (p.Ala401Val) rs199581317
NM_000092.5(COL4A4):c.1323T>C (p.Pro441=) rs35830639
NM_000092.5(COL4A4):c.3989C>T (p.Pro1330Leu) rs201578201
NM_000092.5(COL4A4):c.4152G>A (p.Ala1384=) rs75398993
NM_000092.5(COL4A4):c.507G>C (p.Lys169Asn) rs545808060
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045
NM_000093.5(COL5A1):c.1967C>T (p.Pro656Leu) rs748345448
NM_000094.3(COL7A1):c.4613G>A (p.Arg1538His) rs2229824
NM_000094.3(COL7A1):c.4782+9A>T rs369635501
NM_000094.3(COL7A1):c.5154+5T>C rs2854400
NM_000094.3(COL7A1):c.5259C>T (p.Pro1753=) rs151261530
NM_000094.3(COL7A1):c.59G>C (p.Arg20Pro) rs755340663
NM_000094.3(COL7A1):c.630C>T (p.Leu210=) rs117857033
NM_000094.3(COL7A1):c.6696C>A (p.Pro2232=) rs61729223
NM_000094.3(COL7A1):c.8095G>A (p.Glu2699Lys) rs200938473
NM_000094.3(COL7A1):c.8504G>A (p.Arg2835His) rs139014122
NM_000094.3(COL7A1):c.8568C>T (p.Ser2856=) rs148454724
NM_000094.4(COL7A1):c.5820G>A rs200972872
NM_000094.4(COL7A1):c.7068+5G>A rs779875751
NM_000094.4(COL7A1):c.8206G>A rs779942952
NM_000095.3(COMP):c.1156A>G (p.Asn386Asp) rs61739916
NM_000096.4(CP):c.1099C>T (p.Arg367Cys) rs34624984
NM_000096.4(CP):c.1104G>C (p.Gly368=) rs142503847
NM_000096.4(CP):c.1430C>T (p.Pro477Leu) rs35331711
NM_000096.4(CP):c.1652C>T (p.Thr551Ile) rs61733458
NM_000096.4(CP):c.2158C>T (p.Arg720Trp) rs145784949
NM_000096.4(CP):c.2286-15G>T rs34861155
NM_000096.4(CP):c.229G>C (p.Asp77His) rs200683433
NM_000096.4(CP):c.2378G>A (p.Arg793His) rs115552500
NM_000096.4(CP):c.2522C>G (p.Thr841Arg) rs56033670
NM_000096.4(CP):c.2571C>T (p.Tyr857=) rs151304828
NM_000096.4(CP):c.2611G>A (p.Asp871Asn) rs529607771
NM_000096.4(CP):c.2684G>C (p.Gly895Ala) rs139633388
NM_000096.4(CP):c.2793A>G (p.Leu931=) rs34987997
NM_000096.4(CP):c.2991T>C (p.His997=) rs34394958
NM_000096.4(CP):c.2997C>T (p.His999=) rs147475926
NM_000096.4(CP):c.3006C>T (p.Ser1002=) rs199877380
NM_000096.4(CP):c.3182-4A>G rs34272112
NM_000096.4(CP):c.93G>A (p.Thr31=) rs201521886
NM_000096.4(CP):c.993T>C (p.Pro331=) rs17847025
NM_000098.3(CPT2):c.1025T>C (p.Met342Thr) rs144658100
NM_000098.3(CPT2):c.1055T>G (p.Phe352Cys) rs2229291
NM_000098.3(CPT2):c.1202G>T (p.Ser401Ile)
NM_000098.3(CPT2):c.1335C>T (p.Cys445=) rs143075786
NM_000098.3(CPT2):c.1476C>T (p.Ala492=) rs548364005
NM_000098.3(CPT2):c.1477G>A (p.Ala493Thr) rs61731996
NM_000098.3(CPT2):c.1578T>C (p.Gly526=) rs113493395
NM_000098.3(CPT2):c.1737C>T (p.Tyr579=) rs957344521
NM_000098.3(CPT2):c.1806T>C (p.Phe602=) rs147953465
NM_000098.3(CPT2):c.321A>G (p.Lys107=) rs147846614
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294
NM_000098.3(CPT2):c.448A>G (p.Thr150Ala) rs141505320
NM_000098.3(CPT2):c.45G>T (p.Ala15=) rs761850684
NM_000098.3(CPT2):c.588T>C (p.Pro196=) rs140853350
NM_000098.3(CPT2):c.84C>T (p.Gly28=) rs772541454
NM_000100.3(CSTB):c.121G>A (p.Val41Met) rs143153487
NM_000100.3(CSTB):c.45G>A (p.Glu15=) rs1057521317
NM_000100.3(CSTB):c.67-3T>C rs6383
NM_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs) rs556794126
NM_000103.4(CYP19A1):c.501C>A (p.Ser167=) rs35900050
NM_000103.4(CYP19A1):c.721T>A (p.Tyr241Asn)
NM_000104.3(CYP1B1):c.1103G>A (p.Arg368His) rs79204362
NM_000104.3(CYP1B1):c.685G>A (p.Glu229Lys) rs57865060
NM_000108.5(DLD):c.321A>G (p.Ala107=) rs138398782
NM_000108.5(DLD):c.375G>A (p.Glu125=) rs559057715
NM_000108.5(DLD):c.507C>T (p.Gly169=) rs144351432
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952
NM_000108.5(DLD):c.55C>G (p.Arg19Gly) rs144038427
NM_000108.5(DLD):c.763A>C (p.Met255Leu) rs533405046
NM_000110.3(DPYD):c.1475C>T (p.Ser492Leu) rs72549304
NM_000110.3(DPYD):c.1774C>T (p.Arg592Trp) rs59086055
NM_000110.3(DPYD):c.2303C>A (p.Thr768Lys) rs56005131
NM_000110.3(DPYD):c.775A>G (p.Lys259Glu) rs45589337
NM_000110.4(DPYD):c.1601G>A (p.Ser534Asn) rs1801158
NM_000110.4(DPYD):c.1905+1G>A rs3918290
NM_000110.4(DPYD):c.2846A>T (p.Asp949Val) rs67376798
NM_000110.4(DPYD):c.557A>G (p.Tyr186Cys) rs115232898
NM_000111.2(SLC26A3):c.392C>G (p.Pro131Arg) rs386833481
NM_000112.3(SLC26A2):c.1046T>A (p.Phe349Tyr) rs114212275
NM_000112.3(SLC26A2):c.1081G>A (p.Ala361Thr) rs139051143
NM_000112.3(SLC26A2):c.1194A>T (p.Val398=) rs886038240
NM_000112.3(SLC26A2):c.1410A>G (p.Val470=) rs115777661
NM_000112.3(SLC26A2):c.1474C>T (p.Arg492Trp) rs78676079
NM_000112.3(SLC26A2):c.1512G>A (p.Met504Ile) rs76668544
NM_000112.3(SLC26A2):c.1761C>T (p.Leu587=) rs745590895
NM_000112.3(SLC26A2):c.2046G>A (p.Leu682=) rs116657359
NM_000112.3(SLC26A2):c.2065A>T (p.Thr689Ser) rs3776070
NM_000112.3(SLC26A2):c.2129A>G (p.Tyr710Cys) rs374692915
NM_000112.3(SLC26A2):c.2145G>A (p.Ala715=) rs886060225
NM_000112.3(SLC26A2):c.2220A>G (p.Ter740=) rs61732052
NM_000112.3(SLC26A2):c.229A>C (p.Asn77His) rs76784312
NM_000112.3(SLC26A2):c.655A>G (p.Ile219Val) rs35919114
NM_000112.3(SLC26A2):c.987T>C (p.Leu329=) rs116302615
NM_000113.3(TOR1A):c.646G>C (p.Asp216His) rs1801968
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser) rs146934311
NM_000116.5(TAFAZZIN):c.504G>A (p.Lys168=) rs1057515818
NM_000116.5(TAFAZZIN):c.675G>A (p.Pro225=) rs201046790
NM_000116.5(TAFAZZIN):c.761C>T (p.Ala254Val) rs200909606
NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=) rs35902788
NM_000118.3(ENG):c.-9G>A rs368423516
NM_000118.3(ENG):c.1098C>T (p.Asp366=) rs201497772
NM_000118.3(ENG):c.112G>A (p.Glu38Lys) rs747481834
NM_000118.3(ENG):c.1135-7G>A rs201359896
NM_000118.3(ENG):c.1135-8C>T rs79426098
NM_000118.3(ENG):c.1273-5C>T rs779103881
NM_000118.3(ENG):c.1374A>G (p.Pro458=) rs34828244
NM_000118.3(ENG):c.1389C>T (p.Ala463=) rs200168633
NM_000118.3(ENG):c.1407G>A (p.Pro469=) rs41302657
NM_000118.3(ENG):c.1452C>T (p.Ser484=) rs115450389
NM_000118.3(ENG):c.1510G>A (p.Val504Met) rs116330805
NM_000118.3(ENG):c.1533G>A (p.Ala511=) rs140760635
NM_000118.3(ENG):c.159C>T (p.Cys53=) rs148475405
NM_000118.3(ENG):c.1695T>C (p.His565=) rs750637713
NM_000118.3(ENG):c.1762G>A (p.Val588Ile) rs201768056
NM_000118.3(ENG):c.1806C>T (p.Ile602=) rs373002544
NM_000118.3(ENG):c.225G>A (p.Pro75=) rs116146060
NM_000118.3(ENG):c.321G>T (p.Leu107=) rs767907933
NM_000118.3(ENG):c.388C>T (p.Pro130Ser) rs199840979
NM_000118.3(ENG):c.405C>G (p.Thr135=) rs773521685
NM_000118.3(ENG):c.524-15C>T rs201463582
NM_000118.3(ENG):c.732C>T (p.Pro244=) rs112262663
NM_000118.3(ENG):c.7C>T (p.Arg3Cys) rs139334561
NM_000118.3(ENG):c.850G>A (p.Glu284Lys) rs372045549
NM_000119.3(EPB42):c.100+1G>A rs150530456
NM_000119.3(EPB42):c.1408+4C>T rs45498491
NM_000119.3(EPB42):c.29C>T (p.Ser10Leu) rs77809780
NM_000119.3(EPB42):c.520+12C>T rs185794093
NM_000119.3(EPB42):c.744+7G>A rs72721553
NM_000121.4(EPOR):c.1310G>A (p.Arg437His) rs62638744
NM_000121.4(EPOR):c.1460A>G (p.Asn487Ser) rs62638745
NM_000121.4(EPOR):c.1462C>T (p.Pro488Ser) rs142094773
NM_000123.3(ERCC5):c.1110T>A (p.Arg370=) rs150791877
NM_000123.3(ERCC5):c.1789G>C (p.Val597Leu) rs4150319
NM_000123.3(ERCC5):c.2375C>T (p.Ala792Val) rs121434571
NM_000123.3(ERCC5):c.2620G>A (p.Ala874Thr) rs121434576
NM_000123.3(ERCC5):c.2818G>A (p.Val940Met) rs146344855
NM_000123.3(ERCC5):c.3428C>T (p.Ala1143Val) rs376411022
NM_000123.3(ERCC5):c.767A>G (p.Gln256Arg) rs4150313
NM_000123.3(ERCC5):c.788G>A (p.Arg263Gln) rs61749896
NM_000123.3(ERCC5):c.960C>T (p.Asp320=) rs4150314
NM_000124.4(ERCC6):c.1432_1433insTC (p.Lys478fs) rs886047037
NM_000124.4(ERCC6):c.2047C>T (p.Arg683Ter) rs121917904
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg) rs4253208
NM_000126.4(ETFA):c.186+7A>G rs184587113
NM_000126.4(ETFA):c.533C>G (p.Thr178Arg) rs140169311
NM_000126.4(ETFA):c.667C>T (p.Arg223Ter) rs769976586
NM_000126.4(ETFA):c.66C>T (p.Thr22=)
NM_000126.4(ETFA):c.720A>G (p.Gln240=) rs756864231
NM_000126.4(ETFA):c.826A>C (p.Ile276Leu) rs141200145
NM_000127.2(EXT1):c.1359C>T (p.Phe453=) rs148922894
NM_000127.2(EXT1):c.1360G>A (p.Val454Ile) rs201504622
NM_000127.2(EXT1):c.1536+7G>A rs200128437
NM_000127.2(EXT1):c.1779C>T (p.Pro593=) rs143881630
NM_000127.2(EXT1):c.214G>A (p.Glu72Lys) rs150818931
NM_000127.3(EXT1):c.1266T>A (p.Ile422=)
NM_000127.3(EXT1):c.1743G>A (p.Val581=) rs375284779
NM_000128.3(F11):c.1247G>A (p.Cys416Tyr) rs779802284
NM_000128.3(F11):c.1325del (p.Leu442fs) rs757530565
NM_000128.3(F11):c.1481-1G>T rs1057516506
NM_000128.3(F11):c.325G>A (p.Ala109Thr) rs768474112
NM_000128.3(F11):c.400C>T (p.Gln134Ter) rs756908183
NM_000128.3(F11):c.731A>G (p.Gln244Arg) rs5969
NM_000128.3(F11):c.809A>T (p.Lys270Ile) rs121965070
NM_000128.3(F11):c.901T>C (p.Phe301Leu) rs121965064
NM_000128.4(F11):c.1304+12G>A
NM_000129.3(F13A1):c.1777G>A (p.Gly593Ser) rs138754417
NM_000129.3(F13A1):c.782G>A (p.Arg261His) rs121913071
NM_000130.4(F5):c.1034G>A (p.Arg345Gln) rs201078171
NM_000130.4(F5):c.1106C>T (p.Ala369Val) rs200934105
NM_000130.4(F5):c.1321C>T (p.Arg441Cys) rs747006175
NM_000130.4(F5):c.2222A>G (p.Asn741Ser) rs144979314
NM_000130.4(F5):c.2906A>G (p.Asn969Ser) rs9332604
NM_000130.4(F5):c.3438C>G (p.His1146Gln) rs6005
NM_000130.4(F5):c.3442T>C (p.Ser1148Pro) rs369276714
NM_000130.4(F5):c.4035A>G (p.Gln1345=) rs886045547
NM_000130.4(F5):c.4405T>C (p.Ser1469Pro) rs144262027
NM_000130.4(F5):c.5054C>G (p.Thr1685Ser) rs6011
NM_000130.4(F5):c.524A>G (p.His175Arg) rs201510575
NM_000130.4(F5):c.5490G>A (p.Leu1830=) rs149092241
NM_000130.4(F5):c.5788+4A>T rs759428783
NM_000130.4(F5):c.6309G>A (p.Leu2103=) rs35369423
NM_000130.5(F5):c.2241AGA[2] (p.Glu750del) rs575766548
NM_000130.5(F5):c.4589A>C (p.Glu1530Ala) rs6007
NM_000130.5(F5):c.6193+7T>A rs185294741
NM_000130.5(F5):c.628C>A (p.Gln210Lys)
NM_000132.3(F8):c.1094A>G (p.Tyr365Cys) rs375241473
NM_000132.3(F8):c.1508G>A (p.Arg503His) rs35383156
NM_000132.3(F8):c.2994T>G (p.His998Gln) rs149853218
NM_000132.3(F8):c.389-9C>T rs35621875
NM_000132.3(F8):c.6623A>G (p.Gln2208Arg) rs782198570
NM_000132.3(F8):c.6724G>A (p.Val2242Met) rs782654096
NM_000132.3(F8):c.748A>G (p.Met250Val) rs781943293
NM_000132.4(F8):c.6304G>A (p.Gly2102Ser)
NM_000133.3(F9):c.769G>A (p.Val257Ile) rs200608775
NM_000133.4(F9):c.60A>G (p.Leu20=) rs762082146
NM_000135.4(FANCA):c.1007-7C>G rs111271660
NM_000135.4(FANCA):c.1143G>A (p.Thr381=) rs1800331
NM_000135.4(FANCA):c.1209G>A (p.Ala403=) rs773318145
NM_000135.4(FANCA):c.1413C>T (p.Val471=) rs201561753
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser) rs2239359
NM_000135.4(FANCA):c.1573A>G (p.Ile525Val) rs755925068
NM_000135.4(FANCA):c.1632C>A (p.His544Gln) rs553129361
NM_000135.4(FANCA):c.1830A>G (p.Ala610=) rs1800338
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751
NM_000135.4(FANCA):c.189+7G>A rs369985388
NM_000135.4(FANCA):c.1901-3C>A rs17226526
NM_000135.4(FANCA):c.2015-4G>T rs373954227
NM_000135.4(FANCA):c.2151G>T (p.Met717Ile) rs1131660
NM_000135.4(FANCA):c.2236G>T (p.Ala746Ser) rs575108446
NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp) rs7195066
NM_000135.4(FANCA):c.24C>G (p.Asn8Lys) rs76275444
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141
NM_000135.4(FANCA):c.2589C>A (p.Gly863=) rs72807571
NM_000135.4(FANCA):c.2602-13CT[2] rs577636020
NM_000135.4(FANCA):c.2637C>T (p.Ala879=) rs149435806
NM_000135.4(FANCA):c.2778+10C>T rs371786839
NM_000135.4(FANCA):c.2799A>G (p.Leu933=) rs148250597
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu) rs149112292
NM_000135.4(FANCA):c.2958C>T (p.Asn986=) rs368953287
NM_000135.4(FANCA):c.3114C>T (p.Leu1038=) rs55758861
NM_000135.4(FANCA):c.3138C>T (p.His1046=) rs150884376
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe) rs17233497
NM_000135.4(FANCA):c.3265G>A (p.Val1089Ile) rs536839082
NM_000135.4(FANCA):c.3267C>T (p.Val1089=) rs994416299
NM_000135.4(FANCA):c.3348+7G>T rs185527578
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val) rs138417003
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp) rs143671872
NM_000135.4(FANCA):c.3525G>A (p.Pro1175=)
NM_000135.4(FANCA):c.3538G>A (p.Val1180Met) rs372706571
NM_000135.4(FANCA):c.3551G>C (p.Arg1184Pro) rs147672303
NM_000135.4(FANCA):c.3583C>T (p.Arg1195Trp) rs143642304
NM_000135.4(FANCA):c.3626+7G>A rs933657325
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg) rs139160837
NM_000135.4(FANCA):c.3843G>A (p.Leu1281=)
NM_000135.4(FANCA):c.3859G>A (p.Val1287Ile) rs17227354
NM_000135.4(FANCA):c.3891G>A (p.Lys1297=) rs17227361
NM_000135.4(FANCA):c.3935-6T>C rs368376237
NM_000135.4(FANCA):c.3981C>T (p.His1327=) rs141278771
NM_000135.4(FANCA):c.3982A>G (p.Thr1328Ala) rs9282681
NM_000135.4(FANCA):c.3999C>T (p.Phe1333=) rs774576283
NM_000135.4(FANCA):c.3G>T (p.Met1Ile) rs1555581729
NM_000135.4(FANCA):c.402T>C (p.Pro134=) rs745666586
NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr) rs17227396
NM_000135.4(FANCA):c.4128T>C (p.Val1376=)
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His) rs149851163
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp) rs17227403
NM_000135.4(FANCA):c.4261-9C>G rs368506826
NM_000135.4(FANCA):c.4302C>T (p.Ala1434=) rs142784426
NM_000135.4(FANCA):c.542C>T (p.Ala181Val) rs17232246
NM_000135.4(FANCA):c.59G>A (p.Arg20Lys) rs376307136
NM_000135.4(FANCA):c.601C>T (p.Pro201Ser) rs144917960
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter) rs761341952
NM_000135.4(FANCA):c.688G>A (p.Val230Ile) rs144560850
NM_000135.4(FANCA):c.694A>C (p.Arg232=) rs61757384
NM_000135.4(FANCA):c.755A>G (p.Asp252Gly) rs17225943
NM_000135.4(FANCA):c.793-9T>C rs757500718
NM_000135.4(FANCA):c.837C>T (p.Asp279=) rs752311383
NM_000135.4(FANCA):c.857A>G (p.Gln286Arg) rs13336566
NM_000135.4(FANCA):c.87G>A (p.Arg29=) rs760787108
NM_000135.4(FANCA):c.932T>C (p.Ile311Thr) rs75501942
NM_000136.3(FANCC):c.1281C>T (p.Ala427=) rs754604606
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365
NM_000136.3(FANCC):c.609C>T (p.Leu203=) rs567226063
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg) rs140781259
NM_000136.3(FANCC):c.705C>T (p.Pro235=) rs141828876
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361
NM_000137.3(FAH):c.1021C>T (p.Arg341Trp) rs11555096
NM_000137.3(FAH):c.1098G>A (p.Ser366=) rs35033541
NM_000137.3(FAH):c.1205G>A (p.Arg402His) rs147796599
NM_000137.3(FAH):c.147C>G (p.Leu49=) rs886051496
NM_000137.3(FAH):c.150T>C (p.Phe50=) rs186471906
NM_000137.3(FAH):c.243G>A (p.Ala81=) rs36122289
NM_000137.3(FAH):c.249G>A (p.Val83=) rs370095143
NM_000137.3(FAH):c.296A>G (p.Asp99Gly) rs547847694
NM_000137.3(FAH):c.315-14G>A rs139830755
NM_000137.3(FAH):c.455+9T>C rs531129429
NM_000137.3(FAH):c.553+10C>T rs201051426
NM_000137.3(FAH):c.554-1G>T rs80338895
NM_000137.3(FAH):c.565G>A (p.Val189Ile) rs145389125
NM_000137.3(FAH):c.648C>A (p.Ile216=) rs147016995
NM_000137.3(FAH):c.715A>T (p.Ile239Phe) rs144228661
NM_000137.3(FAH):c.747A>G (p.Pro249=) rs138757552
NM_000137.3(FAH):c.782C>T (p.Pro261Leu) rs80338898
NM_000137.3(FAH):c.864C>T (p.Cys288=) rs370273424
NM_000137.4(FAH):c.1062+5G>A rs80338901
NM_000137.4(FAH):c.181G>T (p.Val61Phe) rs151264725
NM_000137.4(FAH):c.391C>T (p.Arg131Trp) rs147946196
NM_000137.4(FAH):c.741C>T (p.Leu247=) rs145851627
NM_000138.4(FBN1):c.1027G>A (p.Gly343Arg) rs146726731
NM_000138.4(FBN1):c.1371C>G (p.Arg457=) rs25436
NM_000138.4(FBN1):c.1602T>C (p.Cys534=) rs377386372
NM_000138.4(FBN1):c.1821T>C (p.Asp607=) rs149133920
NM_000138.4(FBN1):c.1884C>T (p.Cys628=) rs150421653
NM_000138.4(FBN1):c.2094G>T (p.Pro698=) rs144775475
NM_000138.4(FBN1):c.2420-8T>C rs140582
NM_000138.4(FBN1):c.2979C>T (p.Cys993=) rs150126098
NM_000138.4(FBN1):c.3069G>A (p.Lys1023=) rs199789628
NM_000138.4(FBN1):c.3089A>G (p.Asn1030Ser) rs375996640
NM_000138.4(FBN1):c.3590-8T>C rs140600
NM_000138.4(FBN1):c.3740A>T (p.Asn1247Ile) rs568625812
NM_000138.4(FBN1):c.3890A>G (p.Glu1297Gly) rs200342067
NM_000138.4(FBN1):c.3896C>T (p.Thr1299Met) rs774851476
NM_000138.4(FBN1):c.3936C>T (p.Ser1312=) rs779913610
NM_000138.4(FBN1):c.396T>C (p.Asp132=) rs147481356
NM_000138.4(FBN1):c.4211-10C>T rs28730793
NM_000138.4(FBN1):c.4998C>T (p.Thr1666=) rs141925790
NM_000138.4(FBN1):c.538+4A>G rs375721252
NM_000138.4(FBN1):c.5672-15C>G rs776163620
NM_000138.4(FBN1):c.5724A>G (p.Thr1908=) rs141219664
NM_000138.4(FBN1):c.5788+4C>A rs577301285
NM_000138.4(FBN1):c.6801C>T (p.Asn2267=) rs886051245
NM_000138.4(FBN1):c.6987C>G (p.Asp2329Glu) rs363831
NM_000138.4(FBN1):c.7056C>T (p.Ser2352=) rs149697299
NM_000138.4(FBN1):c.7241G>A (p.Arg2414Gln) rs143863014
NM_000138.4(FBN1):c.7516G>A (p.Gly2506Ser) rs756295016
NM_000138.4(FBN1):c.7560G>A (p.Thr2520=) rs760425899
NM_000138.4(FBN1):c.7820-4G>A rs750036723
NM_000138.4(FBN1):c.783T>C (p.Asn261=) rs113721547
NM_000138.4(FBN1):c.7846A>G (p.Ile2616Val) rs143677764
NM_000138.4(FBN1):c.8011C>T (p.Leu2671=) rs886051244
NM_000138.4(FBN1):c.8149G>A (p.Glu2717Lys) rs187553035
NM_000138.4(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008
NM_000138.4(FBN1):c.8185A>C (p.Lys2729Gln) rs370096856
NM_000138.4(FBN1):c.8202C>T (p.Asn2734=) rs113904256
NM_000138.4(FBN1):c.8310C>T (p.His2770=) rs112189340
NM_000138.4(FBN1):c.8363C>T (p.Thr2788Met) rs143007898
NM_000138.4(FBN1):c.902G>T (p.Gly301Val) rs142888621
NM_000138.5(FBN1):c.1029G>A (p.Gly343=) rs75655780
NM_000138.5(FBN1):c.1746C>T (p.Cys582=) rs112366266
NM_000138.5(FBN1):c.2175T>C (p.Asn725=) rs140606
NM_000138.5(FBN1):c.2855-9C>T rs140590
NM_000138.5(FBN1):c.2895G>A (p.Glu965=) rs140591
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730
NM_000138.5(FBN1):c.306C>T (p.Cys102=) rs25388
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=) rs140587
NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu) rs2228241
NM_000138.5(FBN1):c.3423G>A (p.Pro1141=) rs140396599
NM_000138.5(FBN1):c.3463+3A>G rs80344206
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475
NM_000138.5(FBN1):c.3675G>A (p.Pro1225=) rs148147223
NM_000138.5(FBN1):c.3965-8T>C rs140637
NM_000138.5(FBN1):c.4306G>A (p.Val1436Met) rs377338217
NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile) rs183306990
NM_000138.5(FBN1):c.4905C>G (p.Thr1635=) rs113115949
NM_000138.5(FBN1):c.510C>T (p.Tyr170=) rs111671429
NM_000138.5(FBN1):c.5343G>A (p.Val1781=) rs140649
NM_000138.5(FBN1):c.6314-15G>A rs200841830
NM_000138.5(FBN1):c.6393C>T (p.Cys2131=) rs61730051
NM_000138.5(FBN1):c.6594C>T (p.Pro2198=) rs111844882
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=) rs363824
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met) rs112084407
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser) rs363835
NM_000138.5(FBN1):c.7098C>T (p.Asp2366=) rs1005074
NM_000138.5(FBN1):c.7497A>G (p.Leu2499=) rs148516442
NM_000138.5(FBN1):c.7661G>A (p.Arg2554Gln) rs199522781
NM_000138.5(FBN1):c.79G>A (p.Ala27Thr) rs25397
NM_000138.5(FBN1):c.8283A>T (p.Thr2761=) rs146120912
NM_000138.5(FBN1):c.8502T>C (p.Thr2834=) rs363847
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr) rs12324002
NM_000140.4(FECH):c.163G>T (p.Gly55Cys) rs3848519
NM_000140.4(FECH):c.801G>A (p.Met267Ile) rs118204037
NM_000141.5(FGFR2):c.-46G>A rs201606812
NM_000141.5(FGFR2):c.1239G>A (p.Pro413=) rs147674677
NM_000141.5(FGFR2):c.1539C>T (p.Thr513=) rs74160617
NM_000141.5(FGFR2):c.1548G>A (p.Val516=) rs200522893
NM_000141.5(FGFR2):c.1572A>G (p.Thr524=) rs74160613
NM_000141.5(FGFR2):c.2001C>G (p.Val667=) rs61731218
NM_000141.5(FGFR2):c.2190C>T (p.Asn730=) rs55637244
NM_000141.5(FGFR2):c.23T>G (p.Ile8Ser) rs147307031
NM_000141.5(FGFR2):c.2415C>T (p.Tyr805=) rs558460047
NM_000141.5(FGFR2):c.714G>A (p.Gly238=) rs1276387170
NM_000141.5(FGFR2):c.780C>T (p.Ala260=) rs778288494
NM_000141.5(FGFR2):c.879C>T (p.His293=) rs55745510
NM_000143.3(FH):c.*102T>C rs200093224
NM_000143.3(FH):c.*266A>G rs113667027
NM_000143.3(FH):c.-11C>T rs200942733
NM_000143.3(FH):c.105G>A (p.Ser35=) rs181655698
NM_000143.3(FH):c.1109-7C>T rs1060504079
NM_000143.3(FH):c.122C>T (p.Ala41Val) rs201486221
NM_000143.3(FH):c.1236+14C>T rs149241949
NM_000143.3(FH):c.1237-14_1237-9dup rs779985493
NM_000143.3(FH):c.12A>G (p.Ala4=) rs201277370
NM_000143.3(FH):c.1421C>G (p.Thr474Arg) rs369802820
NM_000143.3(FH):c.1443C>G (p.Thr481=) rs780200136
NM_000143.3(FH):c.1482A>G (p.Ala494=) rs201559643
NM_000143.3(FH):c.1A>C (p.Met1Leu) rs776806414
NM_000143.3(FH):c.305C>T (p.Ala102Val) rs61753295
NM_000143.3(FH):c.33G>C (p.Ser11=) rs200542051
NM_000143.3(FH):c.379-15A>T rs374529177
NM_000143.3(FH):c.521C>G (p.Pro174Arg) rs199822819
NM_000143.3(FH):c.53C>T (p.Pro18Leu) rs201887750
NM_000143.3(FH):c.63C>T (p.Ala21=) rs555404867
NM_000143.3(FH):c.655G>A (p.Asp219Asn) rs11545656
NM_000143.3(FH):c.739-10T>C rs201971572
NM_000143.3(FH):c.77C>T (p.Pro26Leu) rs187226800
NM_000143.4(FH):c.1237-50TC[20] rs144131869
NM_000143.4(FH):c.1237-50TC[21] rs144131869
NM_000143.4(FH):c.574C>T (p.Pro192Ser) rs1573883345
NM_000145.3(FSHR):c.479T>C (p.Ile160Thr) rs121909659
NM_000146.4(FTL):c.*8C>T rs373178636
NM_000147.4(FUCA1):c.1119A>G (p.Lys373=) rs370453371
NM_000147.4(FUCA1):c.327G>A (p.Gln109=) rs61996281
NM_000147.4(FUCA1):c.405G>A (p.Thr135=) rs145153173
NM_000147.4(FUCA1):c.437C>T (p.Pro146Leu) rs2228424
NM_000147.4(FUCA1):c.648C>T (p.Tyr216=) rs80358198
NM_000147.4(FUCA1):c.936G>A (p.Leu312=) rs140932886
NM_000151.4(G6PC1):c.1056G>A (p.Pro352=) rs779263877
NM_000151.4(G6PC1):c.18T>C (p.Asn6=) rs144652516
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175
NM_000151.4(G6PC1):c.326G>A (p.Cys109Tyr) rs886052955
NM_000151.4(G6PC1):c.340+10C>A rs368450665
NM_000151.4(G6PC1):c.432G>A (p.Pro144=) rs161628
NM_000151.4(G6PC1):c.648G>T (p.Leu216=) rs80356484
NM_000151.4(G6PC1):c.694G>A (p.Val232Ile) rs145172999
NM_000151.4(G6PC1):c.879A>G (p.Pro293=) rs529957748
NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys) rs104894563
NM_000151.4(G6PC1):c.909C>T (p.Leu303=) rs368282218
NM_000151.4(G6PC1):c.993G>A (p.Ala331=) rs369238258
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309
NM_000152.5(GAA):c.-312C>T rs574326920
NM_000152.5(GAA):c.-32-13T>G rs386834236
NM_000152.5(GAA):c.1075+12T>G rs370842677
NM_000152.5(GAA):c.1075+13C>T rs41292402
NM_000152.5(GAA):c.1195-15G>A rs373840229
NM_000152.5(GAA):c.1245G>A (p.Thr415=) rs760920034
NM_000152.5(GAA):c.1265G>A (p.Arg422Gln) rs2229224
NM_000152.5(GAA):c.1286A>G (p.Gln429Arg) rs200294882
NM_000152.5(GAA):c.131G>T (p.Gly44Val) rs550609502
NM_000152.5(GAA):c.1332T>C (p.Pro444=) rs200007324
NM_000152.5(GAA):c.1356C>T (p.Ala452=) rs757893858
NM_000152.5(GAA):c.1552-13G>A rs111261964
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser) rs1800307
NM_000152.5(GAA):c.1758G>A (p.Ala586=) rs79795428
NM_000152.5(GAA):c.1823G>A (p.Arg608Gln) rs377126280
NM_000152.5(GAA):c.1828G>A (p.Ala610Thr) rs144731405
NM_000152.5(GAA):c.1830C>T (p.Ala610=) rs61736896
NM_000152.5(GAA):c.1889-5C>T rs794727115
NM_000152.5(GAA):c.1920T>G (p.Pro640=) rs144090460
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn) rs368438393
NM_000152.5(GAA):c.2014C>T (p.Arg672Trp) rs757111744
NM_000152.5(GAA):c.2064C>T (p.Ser688=) rs140996643
NM_000152.5(GAA):c.2151C>T (p.His717=) rs758725073
NM_000152.5(GAA):c.2152G>A (p.Val718Ile) rs141017311
NM_000152.5(GAA):c.2154C>T (p.Val718=) rs1800311
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys) rs144016984
NM_000152.5(GAA):c.2319C>T (p.Tyr773=) rs377402848
NM_000152.5(GAA):c.2400C>T (p.Ser800=) rs115705591
NM_000152.5(GAA):c.2415G>A (p.Val805=) rs150536507
NM_000152.5(GAA):c.2478G>A (p.Leu826=) rs201183207
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln) rs149968110
NM_000152.5(GAA):c.2571G>T (p.Leu857=) rs17853996
NM_000152.5(GAA):c.257C>G (p.Pro86Arg) rs2229222
NM_000152.5(GAA):c.2580C>T (p.Asp860=) rs61736894
NM_000152.5(GAA):c.2652G>A (p.Thr884=) rs143642048
NM_000152.5(GAA):c.2668G>C (p.Val890Leu) rs377286472
NM_000152.5(GAA):c.266G>A (p.Arg89His) rs200586324
NM_000152.5(GAA):c.271G>A (p.Asp91Asn) rs1800299
NM_000152.5(GAA):c.2736G>A (p.Ala912=) rs142472738
NM_000152.5(GAA):c.2790C>T (p.Pro930=)
NM_000152.5(GAA):c.2800-11C>G rs374571499
NM_000152.5(GAA):c.2800-9C>G rs886053547
NM_000152.5(GAA):c.36C>T (p.Leu12=) rs200548806
NM_000152.5(GAA):c.447G>A (p.Thr149=) rs2289536
NM_000152.5(GAA):c.510C>T (p.Asp170=) rs564758226
NM_000152.5(GAA):c.525del (p.Glu176fs) rs386834235
NM_000152.5(GAA):c.668G>A (p.Arg223His) rs1042395
NM_000152.5(GAA):c.687C>T (p.Arg229=) rs149814041
NM_000152.5(GAA):c.705G>A (p.Thr235=) rs2304846
NM_000152.5(GAA):c.726G>A (p.Ala242=) rs148578399
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.852G>A (p.Ala284=) rs142626724
NM_000152.5(GAA):c.858+8G>A rs5822325
NM_000152.5(GAA):c.861C>T (p.Pro287=) rs778580823
NM_000152.5(GAA):c.915G>A (p.Gly305=) rs150343359
NM_000152.5(GAA):c.917C>T (p.Ser306Leu) rs138097673
NM_000152.5(GAA):c.955+14C>A rs756921041
NM_000153.4(GALC):c.-67T>G rs571945132
NM_000153.4(GALC):c.1006G>A (p.Val336Met) rs185073540
NM_000153.4(GALC):c.120C>T (p.Gly40=) rs532800656
NM_000153.4(GALC):c.1272G>A (p.Gln424=) rs376675180
NM_000153.4(GALC):c.1573G>A (p.Glu525Lys) rs146286491
NM_000153.4(GALC):c.1685T>C (p.Ile562Thr) rs398607
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser) rs752537626
NM_000153.4(GALC):c.1731C>T (p.Phe577=) rs201560122
NM_000153.4(GALC):c.18C>G (p.Leu6=) rs886038260
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser) rs138577661
NM_000153.4(GALC):c.195+10A>G rs191767015
NM_000153.4(GALC):c.195+15G>A rs748140458
NM_000153.4(GALC):c.318G>A (p.Gly106=) rs886050867
NM_000153.4(GALC):c.329-10_329-8del rs770389075
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927
NM_000153.4(GALC):c.41C>G (p.Ala14Gly) rs373587692
NM_000153.4(GALC):c.450A>T (p.Pro150=) rs886050866
NM_000153.4(GALC):c.525C>T (p.Val175=) rs181066089
NM_000153.4(GALC):c.550C>T (p.Arg184Cys) rs1805078
NM_000153.4(GALC):c.659G>A (p.Arg220Gln) rs199967869
NM_000153.4(GALC):c.742G>A (p.Asp248Asn) rs34362748
NM_000153.4(GALC):c.749T>C (p.Ile250Thr) rs886039569
NM_000153.4(GALC):c.81C>T (p.Ala27=) rs759433028
NM_000153.4(GALC):c.908C>T (p.Ser303Phe) rs756352952
NM_000153.4(GALC):c.997G>A (p.Gly333Arg) rs190921137
NM_000154.2(GALK1):c.-22T>C rs545362817
NM_000154.2(GALK1):c.1044C>T (p.Phe348=) rs372653001
NM_000154.2(GALK1):c.1107+5G>A rs201663491
NM_000154.2(GALK1):c.1119C>T (p.Gly373=) rs73997615
NM_000154.2(GALK1):c.447G>A (p.Thr149=) rs765744088
NM_000154.2(GALK1):c.593C>T (p.Ala198Val) rs80084721
NM_000154.2(GALK1):c.66G>A (p.Glu22=) rs367558510
NM_000154.2(GALK1):c.746C>T (p.Ala249Val) rs149825190
NM_000154.2(GALK1):c.747G>A (p.Ala249=) rs140053358
NM_000154.2(GALK1):c.787C>T (p.Leu263=) rs886053420
NM_000154.2(GALK1):c.864G>C (p.Thr288=) rs201247556
NM_000154.2(GALK1):c.987G>A (p.Val329=) rs184160171
NM_000155.4(GALT):c.1128A>T (p.Ala376=) rs781374930
NM_000155.4(GALT):c.1132A>G (p.Ile378Val) rs111033819
NM_000155.4(GALT):c.378-12G>A
NM_000155.4(GALT):c.450T>A (p.Val150=) rs886063884
NM_000155.4(GALT):c.510C>A (p.Ile170=) rs61735984
NM_000155.4(GALT):c.687+9G>C rs117998880
NM_000155.4(GALT):c.688-4C>T rs374014228
NM_000155.4(GALT):c.879C>T (p.Ser293=) rs115527942
NM_000155.4(GALT):c.919T>A (p.Ser307Thr) rs61735983
NM_000155.4(GALT):c.945T>C (p.His315=) rs61735982
NM_000155.4(GALT):c.957C>A (p.His319Gln) rs111033792
NM_000156.6(GAMT):c.182G>A (p.Gly61Glu) rs77168423
NM_000156.6(GAMT):c.327G>A (p.Lys109=) rs80338735
NM_000156.6(GAMT):c.392-7C>T rs192416474
NM_000156.6(GAMT):c.396C>A (p.Ile132=) rs200500835
NM_000156.6(GAMT):c.59G>C (p.Trp20Ser) rs80338734
NM_000156.6(GAMT):c.79T>C (p.Tyr27His) rs200833152
NM_000157.4(GBA):c.1226A>G (p.Asn409Ser) rs76763715
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.1392C>T (p.Leu464=) rs563241317
NM_000158.4(GBE1):c.1406A>G (p.Tyr469Cys) rs760661724
NM_000158.4(GBE1):c.1521T>C (p.Thr507=) rs372821643
NM_000158.4(GBE1):c.15G>A (p.Met5Ile) rs62267114
NM_000158.4(GBE1):c.1842T>A (p.Ile614=)
NM_000158.4(GBE1):c.1883A>G (p.His628Arg) rs137852891
NM_000158.4(GBE1):c.2035C>T (p.Arg679Cys) rs202158511
NM_000158.4(GBE1):c.24G>A (p.Ala8=) rs28763906
NM_000158.4(GBE1):c.405C>T (p.Leu135=) rs139882066
NM_000158.4(GBE1):c.45G>A (p.Glu15=) rs370326965
NM_000158.4(GBE1):c.721A>G (p.Met241Val) rs747155575
NM_000158.4(GBE1):c.839G>A (p.Gly280Asp) rs28763902
NM_000158.4(GBE1):c.969T>C (p.Asp323=) rs555689284
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys) rs80338671
NM_000159.4(GCDH):c.1011A>G (p.Ala337=) rs2229460
NM_000159.4(GCDH):c.1085C>A (p.Ala362Asp) rs114759170
NM_000159.4(GCDH):c.1197C>T (p.His399=) rs139344943
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp) rs121434369
NM_000159.4(GCDH):c.1299G>A (p.Ala433=) rs150271870
NM_000159.4(GCDH):c.356C>T (p.Ser119Leu) rs886043840
NM_000159.4(GCDH):c.38G>A (p.Arg13His) rs550100640
NM_000159.4(GCDH):c.471C>T (p.Ser157=) rs146682905
NM_000159.4(GCDH):c.627C>T (p.Thr209=) rs143172809
NM_000159.4(GCDH):c.642G>A (p.Thr214=) rs142806397
NM_000159.4(GCDH):c.658G>A (p.Asp220Asn)
NM_000159.4(GCDH):c.738G>A (p.Ser246=) rs188548539
NM_000159.4(GCDH):c.876C>T (p.Asn292=)
NM_000159.4(GCDH):c.877G>A (p.Ala293Thr) rs121434371
NM_000159.4(GCDH):c.881G>A (p.Arg294Gln)
NM_000159.4(GCDH):c.885C>T (p.Tyr295=) rs139192015
NM_000161.3(GCH1):c.206C>T (p.Pro69Leu) rs56127440
NM_000161.3(GCH1):c.586G>T (p.Ala196Ser) rs104894436
NM_000162.5(GCK):c.*11C>T rs200698755
NM_000162.5(GCK):c.-452G>A rs187173652
NM_000162.5(GCK):c.1253+8C>T rs2908274
NM_000162.5(GCK):c.208+11G>A rs77440690
NM_000162.5(GCK):c.209-8G>A rs144798843
NM_000162.5(GCK):c.213C>T (p.Val71=) rs143128547
NM_000162.5(GCK):c.333C>T (p.Pro111=) rs61736250
NM_000162.5(GCK):c.339C>T (p.Asp113=) rs149412035
NM_000162.5(GCK):c.363+10G>A rs758495950
NM_000162.5(GCK):c.363+9C>T rs200985182
NM_000162.5(GCK):c.46-12C>T rs142829768
NM_000162.5(GCK):c.618G>A (p.Thr206=) rs142817246
NM_000162.5(GCK):c.645C>T (p.Tyr215=) rs144723656
NM_000162.5(GCK):c.666C>T (p.Val222=) rs193922318
NM_000163.5(GHR):c.484G>A (p.Val162Ile) rs6413484
NM_000163.5(GHR):c.718T>C (p.Tyr240His) rs143814221
NM_000165.5(GJA1):c.1127G>A (p.Arg376Gln) rs104893965
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys) rs104894825
NM_000168.6(GLI3):c.1393G>C (p.Gly465Arg) rs35488756
NM_000168.6(GLI3):c.2424A>G (p.Ile808Met) rs62622373
NM_000168.6(GLI3):c.341G>A (p.Arg114Lys) rs146458902
NM_000169.2(GLA):c.899T>C (p.Leu300Pro) rs398123223
NM_000169.3(GLA):c.-12G>A rs3027585
NM_000169.3(GLA):c.196G>C (p.Glu66Gln) rs104894833
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) rs148158093
NM_000169.3(GLA):c.376A>G (p.Ser126Gly) rs149391489
NM_000169.3(GLA):c.639+6A>C rs200096940
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000170.2(GLDC):c.1156-7C>G rs150095531
NM_000170.2(GLDC):c.1229G>A (p.Arg410Lys) rs144090917
NM_000170.2(GLDC):c.1453T>C (p.Leu485=) rs760562478
NM_000170.2(GLDC):c.1545G>A (p.Arg515=) rs121964976
NM_000170.2(GLDC):c.1545G>C (p.Arg515Ser) rs121964976
NM_000170.2(GLDC):c.1581-5C>T rs184463452
NM_000170.2(GLDC):c.1665+7A>T rs759573888
NM_000170.2(GLDC):c.1705G>A (p.Ala569Thr) rs151268759
NM_000170.2(GLDC):c.1707+8G>A rs144666843
NM_000170.2(GLDC):c.190G>T (p.Ala64Ser) rs141601131
NM_000170.2(GLDC):c.1927-9A>G rs41281773
NM_000170.2(GLDC):c.1940C>T (p.Pro647Leu) rs201135624
NM_000170.2(GLDC):c.2053-5C>G rs140877566
NM_000170.2(GLDC):c.2113G>A (p.Val705Met) rs147275962
NM_000170.2(GLDC):c.2203G>T (p.Val735Leu) rs143119940
NM_000170.2(GLDC):c.2316-13dup rs3215923
NM_000170.2(GLDC):c.2487C>T (p.Ala829=) rs141806715
NM_000170.2(GLDC):c.2490G>T (p.Thr830=) rs145407593
NM_000170.2(GLDC):c.2730G>A (p.Ser910=) rs144937031
NM_000170.2(GLDC):c.2748G>A (p.Leu916=) rs139982267
NM_000170.2(GLDC):c.2955G>A (p.Thr985=) rs142004524
NM_000170.2(GLDC):c.2964G>A (p.Arg988=) rs146045718
NM_000170.2(GLDC):c.2988G>C (p.Gln996His) rs138640017
NM_000170.2(GLDC):c.498T>C (p.Pro166=) rs150193069
NM_000170.2(GLDC):c.63C>A (p.Arg21=) rs372141443
NM_000170.2(GLDC):c.671G>A (p.Arg224His) rs28617412
NM_000170.2(GLDC):c.678C>T (p.His226=) rs12006003
NM_000170.3(GLDC):c.1554G>C (p.Pro518=) rs377219563
NM_000170.3(GLDC):c.1830G>A (p.Gln610=)
NM_000170.3(GLDC):c.1926+6T>C rs200007891
NM_000170.3(GLDC):c.2028C>T (p.Ile676=)
NM_000170.3(GLDC):c.2328C>T (p.Leu776=) rs149600380
NM_000170.3(GLDC):c.2683A>G rs141152043
NM_000170.3(GLDC):c.2874C>T (p.Ser958=) rs146339375
NM_000170.3(GLDC):c.319A>G rs138454333
NM_000170.3(GLDC):c.52G>T rs535143891
NM_000170.3(GLDC):c.78G>C (p.Ser26=) rs915226152
NM_000170.3(GLDC):c.96G>T (p.Pro32=) rs1430526811
NM_000171.4(GLRA1):c.1108G>A (p.Gly370Ser) rs116474260
NM_000171.4(GLRA1):c.449G>A (p.Arg150Gln) rs561848502
NM_000171.4(GLRA1):c.50T>C (p.Phe17Ser) rs376426309
NM_000171.4(GLRA1):c.94G>A (p.Ala32Thr) rs779993828
NM_000174.4(GP9):c.182A>G (p.Asn61Ser) rs5030764
NM_000176.3(NR3C1):c.66G>A (p.Glu22=) rs6189
NM_000178.4(GSS):c.4del (p.Ala2fs) rs752560204
NM_000178.4(GSS):c.816T>G (p.Pro272=) rs35051256
NM_000178.4(GSS):c.941C>T (p.Pro314Leu) rs75863437
NM_000179.2(MSH6):c.-159C>T rs41540312
NM_000179.2(MSH6):c.1050C>T (p.Ala350=) rs730881802
NM_000179.2(MSH6):c.1170T>C (p.Asp390=) rs55882234
NM_000179.2(MSH6):c.1186C>G (p.Leu396Val) rs2020908
NM_000179.2(MSH6):c.1449G>T (p.Val483=) rs35590297
NM_000179.2(MSH6):c.1665A>G (p.Ala555=) rs146785465
NM_000179.2(MSH6):c.240A>G (p.Val80=) rs864622281
NM_000179.2(MSH6):c.249T>G (p.Ala83=) rs876658308
NM_000179.2(MSH6):c.2633T>C (p.Val878Ala) rs2020912
NM_000179.2(MSH6):c.3513T>C (p.Asp1171=) rs63749834
NM_000179.2(MSH6):c.3647-6T>A rs182871847
NM_000179.2(MSH6):c.4001+11_4001+15dup rs587779302
NM_000179.2(MSH6):c.457+13A>G rs1800933
NM_000179.3(MSH6):c.1019T>C (p.Phe340Ser) rs61753793
NM_000179.3(MSH6):c.116G>A (p.Gly39Glu) rs1042821
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005
NM_000179.3(MSH6):c.1875C>T (p.Ser625=) rs63749886
NM_000179.3(MSH6):c.3160A>T (p.Ile1054Phe) rs267608075
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.4068_4071dup (p.Lys1358delinsAspTer) rs55740729
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile) rs3211299
NM_000181.4(GUSB):c.1069C>T (p.Arg357Ter) rs121918185
NM_000181.4(GUSB):c.1240C>T (p.Leu414=) rs150686327
NM_000181.4(GUSB):c.1329C>T (p.Val443=) rs139776224
NM_000181.4(GUSB):c.13T>C (p.Ser5Pro) rs190496263
NM_000181.4(GUSB):c.1482G>A (p.Pro494=) rs548880426
NM_000181.4(GUSB):c.211-8C>G rs2293340
NM_000181.4(GUSB):c.222C>T (p.Thr74=) rs140016611
NM_000181.4(GUSB):c.454G>A (p.Asp152Asn) rs149606212
NM_000181.4(GUSB):c.988G>T (p.Ala330Ser) rs561880652
NM_000182.5(HADHA):c.1072C>A (p.Gln358Lys) rs2229420
NM_000182.5(HADHA):c.1212G>C (p.Val404=) rs116396996
NM_000182.5(HADHA):c.2060T>C (p.Met687Thr) rs149632783
NM_000182.5(HADHA):c.2147-8C>G rs368976628
NM_000183.3(HADHB):c.1206C>T (p.Tyr402=) rs146538551
NM_000183.3(HADHB):c.135G>A (p.Thr45=) rs574464531
NM_000183.3(HADHB):c.1371G>A (p.Ala457=) rs72851542
NM_000183.3(HADHB):c.246A>G (p.Ala82=) rs151302743
NM_000183.3(HADHB):c.900C>T (p.Tyr300=) rs144093705
NM_000186.3(CFH):c.-124G>T rs527444515
NM_000186.3(CFH):c.1736T>C (p.Val579Ala) rs201411537
NM_000186.3(CFH):c.184G>A (p.Val62Ile) rs800292
NM_000186.3(CFH):c.1949G>T (p.Gly650Val) rs143237092
NM_000186.3(CFH):c.2196G>A (p.Thr732=) rs144325643
NM_000186.3(CFH):c.2850G>T (p.Gln950His) rs149474608
NM_000186.3(CFH):c.285T>C (p.Thr95=) rs148182625
NM_000186.3(CFH):c.2957-7A>G rs190778135
NM_000186.3(CFH):c.3004G>C (p.Gly1002Arg) rs201816520
NM_000186.3(CFH):c.3133+4C>G rs374729595
NM_000186.3(CFH):c.3178G>C (p.Val1060Leu) rs55771831
NM_000186.3(CFH):c.3207T>C (p.Ser1069=) rs62641697
NM_000186.3(CFH):c.3310+12T>C rs757045842
NM_000186.3(CFH):c.350+9T>C rs201686629
NM_000186.3(CFH):c.3628C>T (p.Arg1210Cys) rs121913059
NM_000186.3(CFH):c.428-14T>C rs184188486
NM_000186.3(CFH):c.770G>A (p.Arg257His) rs140107330
NM_000186.4(CFH):c.1418C>T (p.Ala473Val)
NM_000186.4(CFH):c.16A>G (p.Lys6Glu)
NM_000186.4(CFH):c.172T>G (p.Ser58Ala)
NM_000186.4(CFH):c.2424A>G (p.Ile808Met)
NM_000186.4(CFH):c.245-15T>C
NM_000186.4(CFH):c.2596+8G>T
NM_000186.4(CFH):c.2944C>T (p.Pro982Ser)
NM_000186.4(CFH):c.2956+13G>A
NM_000186.4(CFH):c.3156C>T (p.Pro1052=)
NM_000186.4(CFH):c.879G>A (p.Gln293=)
NM_000186.4(CFH):c.907C>T (p.Arg303Trp)
NM_000187.4(HGD):c.1102A>G (p.Met368Val) rs120074173
NM_000187.4(HGD):c.1176C>T (p.Ala392=) rs368805723
NM_000187.4(HGD):c.1206A>G (p.Ser402=) rs140500816
NM_000187.4(HGD):c.1221G>A (p.Ala407=) rs146206905
NM_000187.4(HGD):c.129G>A (p.Gln43=) rs142789485
NM_000187.4(HGD):c.141G>A (p.Ser47=) rs541268108
NM_000187.4(HGD):c.142G>T (p.Ala48Ser) rs138846036
NM_000187.4(HGD):c.474G>A (p.Pro158=) rs2293734
NM_000187.4(HGD):c.474G>T (p.Pro158=) rs2293734
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.765T>C (p.Ala255=) rs747764475
NM_000190.4(HMBS):c.-28A>C rs201349602
NM_000190.4(HMBS):c.1075G>A (p.Asp359Asn) rs144949995
NM_000190.4(HMBS):c.257A>T (p.Glu86Val) rs150763621
NM_000190.4(HMBS):c.532G>A (p.Asp178Asn) rs536814318
NM_000190.4(HMBS):c.754G>A (p.Ala252Thr) rs118204113
NM_000190.4(HMBS):c.962G>A (p.Arg321His) rs150428209
NM_000191.3(HMGCL):c.454G>A (p.Ala152Thr) rs146306707
NM_000191.3(HMGCL):c.501C>T (p.Tyr167=) rs200189529
NM_000191.3(HMGCL):c.594C>T (p.Tyr198=) rs139799938
NM_000191.3(HMGCL):c.708C>T (p.Asp236=) rs886046312
NM_000191.3(HMGCL):c.853del (p.Met284_Leu285insTer) rs779339230
NM_000192.3(TBX5):c.316A>G (p.Ile106Val) rs147710408
NM_000192.3(TBX5):c.786C>T (p.Thr262=) rs375955080
NM_000192.3(TBX5):c.787G>A (p.Val263Met) rs147405081
NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000195.5(HPS1):c.1846G>A (p.Glu616Lys)
NM_000195.5(HPS1):c.1888G>A (p.Val630Ile) rs139061260
NM_000198.4(HSD3B2):c.222C>T (p.Asp74=) rs150892928
NM_000198.4(HSD3B2):c.308-8G>A rs371712928
NM_000198.4(HSD3B2):c.308-9C>T rs375047799
NM_000198.4(HSD3B2):c.423C>T (p.His141=) rs751470493
NM_000198.4(HSD3B2):c.500C>T (p.Ala167Val) rs35486059
NM_000198.4(HSD3B2):c.501G>A (p.Ala167=) rs6207
NM_000198.4(HSD3B2):c.621C>T (p.Asn207=) rs143758913
NM_000198.4(HSD3B2):c.750T>C (p.Gly250=) rs755461071
NM_000198.4(HSD3B2):c.960A>C (p.Thr320=) rs34412477
NM_000199.5(SGSH):c.1002C>T (p.Ala334=) rs145596938
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys) rs766938111
NM_000199.5(SGSH):c.1134C>T (p.Ser378=) rs771257931
NM_000199.5(SGSH):c.1209C>T (p.Tyr403=) rs115750405
NM_000199.5(SGSH):c.1296C>T (p.Tyr432=) rs141153056
NM_000199.5(SGSH):c.1302G>A (p.Ala434=) rs376787615
NM_000199.5(SGSH):c.1317C>T (p.Tyr439=) rs146522699
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys) rs104894639
NM_000199.5(SGSH):c.1446C>T (p.Ala482=) rs113679696
NM_000199.5(SGSH):c.163C>T (p.Arg55Cys) rs368650877
NM_000199.5(SGSH):c.390C>T (p.Thr130=) rs111761143
NM_000199.5(SGSH):c.411G>A (p.Ala137=) rs142557761
NM_000199.5(SGSH):c.432C>T (p.Ser144=) rs200194908
NM_000199.5(SGSH):c.534C>T (p.His178=) rs139484283
NM_000199.5(SGSH):c.658G>T (p.Val220Leu) rs150508741
NM_000199.5(SGSH):c.780C>T (p.Ala260=) rs530964770
NM_000199.5(SGSH):c.798A>G (p.Thr266=) rs199562202
NM_000199.5(SGSH):c.97G>A (p.Gly33Arg) rs398123246
NM_000199.5(SGSH):c.981G>A (p.Ser327=)
NM_000203.5(IDUA):c.1002G>A (p.Leu334=) rs370582480
NM_000203.5(IDUA):c.1031C>G (p.Ala344Gly) rs202191662
NM_000203.5(IDUA):c.1081G>A (p.Ala361Thr) rs6831280
NM_000203.5(IDUA):c.1093C>G (p.Leu365Val) rs527336882
NM_000203.5(IDUA):c.1174C>T (p.Leu392=) rs201682298
NM_000203.5(IDUA):c.11T>C (p.Leu4Pro) rs180984980
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) rs11934801
NM_000203.5(IDUA):c.1332C>T (p.Asp444=) rs545473192
NM_000203.5(IDUA):c.1345C>A (p.His449Asn) rs532731688
NM_000203.5(IDUA):c.1402+8G>A
NM_000203.5(IDUA):c.1479C>A (p.Pro493=) rs370394527
NM_000203.5(IDUA):c.1651-10C>T rs548878643
NM_000203.5(IDUA):c.1800G>A (p.Ser600=) rs763047621
NM_000203.5(IDUA):c.234C>T (p.Gly78=) rs138932617
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) rs58037052
NM_000203.5(IDUA):c.246C>G (p.His82Gln) rs148775298
NM_000203.5(IDUA):c.249C>T (p.Arg83=) rs765563471
NM_000203.5(IDUA):c.299+7G>A rs200911718
NM_000203.5(IDUA):c.30G>A (p.Leu10=) rs549738466
NM_000203.5(IDUA):c.365G>A (p.Arg122Lys) rs200237798
NM_000203.5(IDUA):c.408C>T (p.Ala136=) rs138195998
NM_000203.5(IDUA):c.630C>T (p.Arg210=) rs376012666
NM_000203.5(IDUA):c.663C>G (p.Pro221=) rs368553582
NM_000203.5(IDUA):c.76G>A (p.Ala26Thr) rs746809894
NM_000203.5(IDUA):c.793-9C>T rs375798875
NM_000203.5(IDUA):c.965T>A (p.Val322Glu) rs76722191
NM_000204.4(CFI):c.1642G>C (p.Glu548Gln) rs7437875
NM_000204.4(CFI):c.559C>T (p.Arg187Ter) rs368615806
NM_000204.4(CFI):c.782G>A (p.Gly261Asp) rs112534524
NM_000206.3(IL2RG):c.78A>T (p.Thr26=) rs147424359
NM_000207.3(INS):c.*9C>T rs3842752
NM_000207.3(INS):c.-9C>T rs5505
NM_000207.3(INS):c.188-10G>A rs41275198
NM_000207.3(INS):c.36G>A (p.Ala12=) rs3842744
NM_000207.3(INS):c.67G>A (p.Ala23Thr) rs13306444
NM_000207.3(INS):c.72C>A (p.Ala24=)
NM_000208.4(INSR):c.2243C>T (p.Ser748Leu) rs143523271
NM_000208.4(INSR):c.3034G>A (p.Val1012Met) rs1799816
NM_000211.5(ITGB2):c.1002C>T (p.Thr334=) rs61737081
NM_000211.5(ITGB2):c.1413-8G>A rs375743879
NM_000211.5(ITGB2):c.1464G>A (p.Arg488=) rs202051683
NM_000211.5(ITGB2):c.147+9C>T rs199948899
NM_000211.5(ITGB2):c.1575C>T (p.Pro525=) rs200615045
NM_000211.5(ITGB2):c.159G>A (p.Gly53=) rs200150384
NM_000211.5(ITGB2):c.162G>A (p.Pro54=) rs138303556
NM_000211.5(ITGB2):c.1635C>T (p.Asn545=) rs61747606
NM_000211.5(ITGB2):c.1725C>T (p.Cys575=) rs373452460
NM_000211.5(ITGB2):c.1756C>T (p.Arg586Trp) rs5030672
NM_000211.5(ITGB2):c.1888G>A (p.Glu630Lys) rs2230531
NM_000211.5(ITGB2):c.1968C>T (p.Pro656=)
NM_000211.5(ITGB2):c.2145C>T (p.Ile715=) rs144590448
NM_000211.5(ITGB2):c.2283C>T (p.Val761=) rs192197684
NM_000211.5(ITGB2):c.228C>T (p.Asp76=) rs368629638
NM_000211.5(ITGB2):c.329-6C>T rs9983887
NM_000211.5(ITGB2):c.525C>T (p.Thr175=) rs200134130
NM_000211.5(ITGB2):c.537C>T (p.Phe179=) rs371548080
NM_000211.5(ITGB2):c.681C>T (p.Ser227=) rs369981986
NM_000211.5(ITGB2):c.714C>T (p.Asp238=) rs752901414
NM_000211.5(ITGB2):c.729C>T (p.Val243=) rs199735877
NM_000211.5(ITGB2):c.732C>T (p.Ala244=) rs146557638
NM_000211.5(ITGB2):c.768G>A (p.Thr256=) rs201148219
NM_000211.5(ITGB2):c.807C>T (p.Phe269=) rs142381225
NM_000211.5(ITGB2):c.847G>A (p.Asp283Asn) rs149483341
NM_000211.5(ITGB2):c.849C>T (p.Asp283=) rs35013643
NM_000211.5(ITGB2):c.853C>T (p.Arg285Cys) rs137959302
NM_000212.2(ITGB3):c.187C>T (p.Arg63Cys) rs199866795
NM_000212.2(ITGB3):c.1902C>T (p.Cys634=) rs149823724
NM_000212.2(ITGB3):c.1960G>A (p.Glu654Lys) rs70940817
NM_000212.2(ITGB3):c.362-1G>A rs1567764299
NM_000213.5(ITGB4):c.2929C>T (p.Arg977Cys) rs145976111
NM_000214.3(JAG1):c.133G>T (p.Val45Leu) rs183974372
NM_000214.3(JAG1):c.1578C>T (p.Ile526=) rs1801139
NM_000214.3(JAG1):c.1655C>T (p.Pro552Leu) rs201785359
NM_000214.3(JAG1):c.1755C>T (p.Asn585=) rs142808131
NM_000214.3(JAG1):c.1806C>T (p.His602=) rs764290237
NM_000214.3(JAG1):c.1826C>T (p.Ser609Leu) rs199505265
NM_000214.3(JAG1):c.1920C>T (p.Asn640=) rs372121353
NM_000214.3(JAG1):c.2231G>A (p.Arg744Gln) rs147809756
NM_000214.3(JAG1):c.2304C>T (p.Cys768=) rs755427292
NM_000214.3(JAG1):c.2329C>T (p.Pro777Ser) rs202063628
NM_000214.3(JAG1):c.2344+15C>G rs200139177
NM_000214.3(JAG1):c.2590A>G (p.Ile864Val) rs142742183
NM_000214.3(JAG1):c.270G>T (p.Gly90=) rs114048678
NM_000214.3(JAG1):c.2778C>T (p.Phe926=) rs147793030
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln) rs145895196
NM_000214.3(JAG1):c.2917-7G>A rs201573066
NM_000214.3(JAG1):c.294C>T (p.Ser98=) rs79338570
NM_000214.3(JAG1):c.3153C>T (p.Ala1051=) rs754593633
NM_000214.3(JAG1):c.3329A>C (p.Asn1110Thr) rs150811951
NM_000214.3(JAG1):c.3333C>T (p.Thr1111=) rs141439542
NM_000214.3(JAG1):c.3343G>A (p.Val1115Met) rs148373907
NM_000214.3(JAG1):c.3507G>C (p.Arg1169=) rs138452567
NM_000214.3(JAG1):c.3521C>T (p.Pro1174Leu) rs775363555
NM_000214.3(JAG1):c.3555C>T (p.Pro1185=) rs142017684
NM_000214.3(JAG1):c.3570G>A (p.Pro1190=) rs201572666
NM_000214.3(JAG1):c.3651C>T (p.Ile1217=) rs542831744
NM_000214.3(JAG1):c.388-4G>C rs567027490
NM_000214.3(JAG1):c.526G>A (p.Val176Ile) rs199674138
NM_000214.3(JAG1):c.588C>T (p.Cys196=) rs1801138
NM_000214.3(JAG1):c.765C>T (p.Tyr255=) rs1131695
NM_000214.3(JAG1):c.894T>C (p.Asn298=) rs149897344
NM_000214.3(JAG1):c.909T>C (p.His303=) rs139574260
NM_000215.3(JAK3):c.108G>C (p.Gly36=) rs149701114
NM_000215.3(JAK3):c.1551T>A (p.Pro517=) rs143936463
NM_000215.3(JAK3):c.1581G>A (p.Leu527=) rs3213408
NM_000215.3(JAK3):c.1653A>G (p.Thr551=) rs201698409
NM_000215.3(JAK3):c.1843C>T (p.Arg615Cys) rs200075643
NM_000215.3(JAK3):c.187A>G (p.Ile63Val) rs144405201
NM_000215.3(JAK3):c.1929G>A (p.Leu643=) rs138645044
NM_000215.3(JAK3):c.2079C>T (p.Pro693=) rs145377049
NM_000215.3(JAK3):c.2152G>C (p.Val718Leu) rs146837396
NM_000215.3(JAK3):c.2164G>A (p.Val722Ile) rs3213409
NM_000215.3(JAK3):c.2235G>A (p.Pro745=) rs149207170
NM_000215.3(JAK3):c.2350+7G>A rs200658439
NM_000215.3(JAK3):c.2391A>G (p.Ala797=) rs199910484
NM_000215.3(JAK3):c.2451C>T (p.Phe817=) rs201576913
NM_000215.3(JAK3):c.252G>A (p.Pro84=) rs139738701
NM_000215.3(JAK3):c.2681-11G>T rs201970522
NM_000215.3(JAK3):c.2773C>A (p.Arg925Ser) rs149452625
NM_000215.3(JAK3):c.3213C>T (p.His1071=) rs757910571
NM_000215.3(JAK3):c.3267C>T (p.Ser1089=) rs138593705
NM_000215.3(JAK3):c.3300C>T (p.Ser1100=) rs201073968
NM_000215.3(JAK3):c.394C>A (p.Pro132Thr) rs3212723
NM_000215.3(JAK3):c.631A>C (p.Arg211=) rs56269787
NM_000215.3(JAK3):c.649G>A (p.Val217Met) rs202167678
NM_000215.3(JAK3):c.696C>T (p.His232=) rs199902822
NM_000215.3(JAK3):c.938G>A (p.Gly313Glu) rs200319694
NM_000215.4(JAK3):c.452C>G (p.Pro151Arg) rs55778349
NM_000217.3(KCNA1):c.1086T>C (p.Ala362=)
NM_000217.3(KCNA1):c.1125C>T (p.Tyr375=) rs144351014
NM_000217.3(KCNA1):c.1327C>G (p.Arg443Gly) rs150849316
NM_000217.3(KCNA1):c.1440T>A (p.Thr480=) rs4766309
NM_000217.3(KCNA1):c.1464G>A (p.Lys488=) rs147828649
NM_000217.3(KCNA1):c.684T>C (p.Cys228=) rs1048500
NM_000218.3(KCNQ1):c.1394-14C>T rs28730758
NM_000218.3(KCNQ1):c.1394-8C>T rs371488379
NM_000218.3(KCNQ1):c.1455C>T (p.Phe485=) rs17215465
NM_000218.3(KCNQ1):c.1590+14T>C rs11024034
NM_000218.3(KCNQ1):c.1927G>A (p.Gly643Ser) rs1800172
NM_000218.3(KCNQ1):c.1942G>A (p.Val648Ile) rs34150427
NM_000218.3(KCNQ1):c.477+9C>T rs28730664
NM_000218.3(KCNQ1):c.478-8C>T rs150711844
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000220.5(KCNJ1):c.634C>T (p.Arg212Ter) rs201707868
NM_000222.2(KIT):c.1185C>A (p.Ser395=) rs755864184
NM_000222.2(KIT):c.1195G>A (p.Val399Ile) rs143707288
NM_000222.2(KIT):c.1383A>G (p.Thr461=) rs151016327
NM_000222.2(KIT):c.1594G>A (p.Val532Ile) rs55792975
NM_000222.2(KIT):c.1674G>A (p.Lys558=) rs200375589
NM_000222.2(KIT):c.1694G>T (p.Gly565Val) rs200945282
NM_000222.2(KIT):c.200C>G (p.Thr67Ser) rs144933028
NM_000222.2(KIT):c.2118T>G (p.Leu706=) rs766840704
NM_000222.2(KIT):c.2234-3C>T rs370131461
NM_000222.2(KIT):c.2349C>T (p.Leu783=) rs151046591
NM_000222.2(KIT):c.2484C>T (p.Asn828=) rs141347955
NM_000222.2(KIT):c.252G>A (p.Thr84=) rs56411694
NM_000222.2(KIT):c.252G>T (p.Thr84=) rs56411694
NM_000222.2(KIT):c.2562C>G (p.Ser854=) rs750039813
NM_000222.2(KIT):c.2670C>T (p.Leu890=) rs745967881
NM_000222.2(KIT):c.2802+9A>G rs369450271
NM_000222.2(KIT):c.2805T>A (p.Ile935=) rs72549296
NM_000222.2(KIT):c.67+4G>A rs72550820
NM_000222.2(KIT):c.821C>T (p.Thr274Met) rs138585275
NM_000222.2(KIT):c.878A>G (p.Asn293Ser) rs137909416
NM_000222.2(KIT):c.952A>G (p.Met318Val) rs143388949
NM_000222.2(KIT):c.978C>T (p.Asn326=) rs148594615
NM_000226.4(KRT9):c.1216T>C (p.Cys406Arg) rs77688767
NM_000230.3(LEP):c.21C>T (p.Cys7=) rs201523305
NM_000230.3(LEP):c.280G>A (p.Val94Met) rs17151919
NM_000231.2(SGCG):c.*10G>A rs139369964
NM_000231.2(SGCG):c.-6T>C rs141771521
NM_000231.2(SGCG):c.832G>A (p.Gly278Ser) rs147820869
NM_000231.3(SGCG):c.*13C>T rs9510701
NM_000231.3(SGCG):c.228T>C (p.Asp76=) rs1800350
NM_000231.3(SGCG):c.347G>A (p.Arg116His) rs17314986
NM_000232.4(SGCB):c.31C>T (p.Gln11Ter) rs752492870
NM_000232.4(SGCB):c.799C>T (p.Arg267Cys) rs200761715
NM_000232.4(SGCB):c.943G>A (p.Gly315Arg) rs150395645
NM_000233.4(LHCGR):c.458+3A>G rs76210637
NM_000235.4(LIPA):c.*1093C>T rs13500
NM_000235.4(LIPA):c.*1187C>A rs78931290
NM_000235.4(LIPA):c.*841C>G rs116074523
NM_000235.4(LIPA):c.*876C>G rs141445686
NM_000235.4(LIPA):c.1009A>G (p.Thr337Ala) rs143793106
NM_000235.4(LIPA):c.1026G>A (p.Gly342=) rs550415126
NM_000235.4(LIPA):c.1113A>G (p.Glu371=) rs116827211
NM_000235.4(LIPA):c.318C>T (p.Phe106=) rs1438679981
NM_000235.4(LIPA):c.539-6T>C rs201898154
NM_000235.4(LIPA):c.615C>T (p.Ser205=) rs143930279
NM_000235.4(LIPA):c.662A>G (p.Asp221Gly) rs145163592
NM_000235.4(LIPA):c.67G>A (p.Gly23Arg) rs1051339
NM_000235.4(LIPA):c.754A>T (p.Ile252Leu) rs147493628
NM_000235.4(LIPA):c.891C>T (p.Ser297=) rs145066614
NM_000236.3(LIPC):c.1214C>T (p.Thr405Met) rs113298164
NM_000236.3(LIPC):c.738_739dup (p.Gly247fs) rs749932377
NM_000236.3(LIPC):c.866C>T (p.Ser289Phe) rs121912502
NM_000237.3(LPL):c.*1671T>C rs13702
NM_000237.3(LPL):c.290C>T (p.Ala97Val) rs201946950
NM_000237.3(LPL):c.345A>C (p.Ser115=) rs147309575
NM_000237.3(LPL):c.528C>G (p.Val176=) rs199606532
NM_000237.3(LPL):c.786G>A (p.Gln262=) rs140986245
NM_000238.3(KCNH2):c.3140G>T (p.Arg1047Leu) rs36210421
NM_000238.3(KCNH2):c.3164G>A (p.Arg1055Gln) rs41307270
NM_000238.3(KCNH2):c.3436A>T (p.Thr1146Ser) rs778879572
NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser) rs138776684
NM_000238.4(KCNH2):c.3331-13GT[2] rs41313749
NM_000238.4(KCNH2):c.422C>T (p.Pro141Leu) rs199472864
NM_000238.4(KCNH2):c.442C>T (p.Arg148Trp) rs139544114
NM_000239.2(LYZ):c.263C>A (p.Thr88Asn) rs1800973
NM_000243.2(MEFV):c.*133G>A rs2075849
NM_000243.2(MEFV):c.*245G>A rs2741919
NM_000243.2(MEFV):c.*267G>A rs2741918
NM_000243.2(MEFV):c.*9C>T rs11466048
NM_000243.2(MEFV):c.1038C>G (p.Gly346=) rs141090517
NM_000243.2(MEFV):c.1173T>C (p.Asp391=) rs146077729
NM_000243.2(MEFV):c.1245C>T (p.Val415=) rs104895195
NM_000243.2(MEFV):c.1260+10C>T rs104895137
NM_000243.2(MEFV):c.1370C>T (p.Ala457Val) rs104895151
NM_000243.2(MEFV):c.1467G>A (p.Gln489=) rs61732424
NM_000243.2(MEFV):c.1527C>T (p.Leu509=) rs571832030
NM_000243.2(MEFV):c.1759+8C>T rs77380520
NM_000243.2(MEFV):c.1760-4G>A rs79662406
NM_000243.2(MEFV):c.1772T>C (p.Ile591Thr) rs11466045
NM_000243.2(MEFV):c.1803T>A (p.Ile601=) rs779572391
NM_000243.2(MEFV):c.2049G>A (p.Ser683=) rs104895092
NM_000243.2(MEFV):c.2084A>G rs104895094
NM_000243.2(MEFV):c.2118G>A (p.Pro706=) rs2234939
NM_000243.2(MEFV):c.2230G>T rs61732874
NM_000243.2(MEFV):c.250G>A (p.Glu84Lys) rs150819742
NM_000243.2(MEFV):c.289C>T (p.Gln97Ter) rs747515115
NM_000243.2(MEFV):c.297C>T (p.Asn99=) rs104895175
NM_000243.2(MEFV):c.343C>A (p.Pro115Thr) rs147557169
NM_000243.2(MEFV):c.344C>G (p.Pro115Arg) rs201766654
NM_000243.2(MEFV):c.372C>T (p.Pro124=) rs104895078
NM_000243.2(MEFV):c.42G>A (p.Glu14=) rs113314808
NM_000243.2(MEFV):c.564C>T (p.Pro188=) rs775755423
NM_000243.2(MEFV):c.688G>A (p.Glu230Lys) rs104895080
NM_000243.2(MEFV):c.801A>G (p.Thr267=) rs141455838
NM_000243.2(MEFV):c.986G>A (p.Arg329His) rs104895112
NM_000243.3(MEFV):c.1105C>T rs11466023
NM_000243.3(MEFV):c.1223G>A rs11466024
NM_000243.3(MEFV):c.2040G>A rs28940580
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097
NM_000243.3(MEFV):c.329T>C rs11466018
NM_000243.3(MEFV):c.442G>C rs3743930
NM_000243.3(MEFV):c.585G>A rs200766991
NM_000244.3(MEN1):c.1366-4C>T rs764408631
NM_000244.3(MEN1):c.1424C>T (p.Pro475Leu) rs750112288
NM_000244.3(MEN1):c.1523G>A (p.Gly508Asp) rs375804228
NM_000244.3(MEN1):c.1550C>T (p.Ser517Leu) rs141679530
NM_000244.3(MEN1):c.30G>T (p.Leu10=) rs371192390
NM_000244.3(MEN1):c.585G>A (p.Gly195=) rs547249181
NM_000244.3(MEN1):c.61C>A (p.Arg21Ser) rs541476418
NM_000244.3(MEN1):c.789G>C (p.Gln263His) rs374659656
NM_000245.4(MET):c.1039G>A (p.Ala347Thr) rs200074800
NM_000245.4(MET):c.1076G>A (p.Arg359Gln) rs201274041
NM_000245.4(MET):c.110T>C (p.Val37Ala) rs201315884
NM_000245.4(MET):c.1715G>A (p.Ser572Asn) rs199771406
NM_000245.4(MET):c.2584-7del rs587780736
NM_000245.4(MET):c.2908C>T (p.Arg970Cys) rs34589476
NM_000245.4(MET):c.36C>T (p.Leu12=) rs188625702
NM_000245.4(MET):c.406G>A (p.Val136Ile) rs199701987
NM_000245.4(MET):c.4087G>A (p.Ala1363Thr) rs45578433
NM_000245.4(MET):c.467C>T (p.Ser156Leu) rs56311081
NM_000245.4(MET):c.504G>T (p.Glu168Asp) rs55985569
NM_000245.4(MET):c.689C>T (p.Thr230Met) rs587780740
NM_000245.4(MET):c.959C>T (p.Ala320Val) rs35776110
NM_000245.4(MET):c.967A>G (p.Ser323Gly) rs201467281
NM_000246.3(CIITA):c.1047T>C (p.Tyr349=) rs144735718
NM_000246.3(CIITA):c.1068G>A (p.Pro356=) rs140486686
NM_000246.3(CIITA):c.1230G>A (p.Pro410=) rs199476069
NM_000246.3(CIITA):c.1461C>G (p.Ile487Met) rs141202424
NM_000246.3(CIITA):c.1518G>A (p.Ala506=) rs201215476
NM_000246.3(CIITA):c.1542G>A (p.Thr514=) rs2228239
NM_000246.3(CIITA):c.1731C>T (p.Tyr577=) rs142848848
NM_000246.3(CIITA):c.1926C>T (p.Val642=) rs138376967
NM_000246.3(CIITA):c.1944A>T (p.Ala648=)
NM_000246.3(CIITA):c.2148C>T (p.Phe716=) rs762483007
NM_000246.3(CIITA):c.2179G>C (p.Glu727Gln) rs548646642
NM_000246.3(CIITA):c.2405G>A (p.Arg802Gln) rs201182990
NM_000246.3(CIITA):c.2409G>A (p.Ala803=)
NM_000246.3(CIITA):c.2442C>T (p.His814=) rs746490057
NM_000246.3(CIITA):c.2448C>T (p.Ala816=) rs112250421
NM_000246.3(CIITA):c.2651G>A (p.Arg884His) rs374443915
NM_000246.3(CIITA):c.2817-10T>C rs75381106
NM_000246.3(CIITA):c.2888+1G>A rs372826934
NM_000246.3(CIITA):c.2892G>A (p.Leu964=) rs200599265
NM_000246.3(CIITA):c.3003C>T (p.Asp1001=) rs143497260
NM_000246.3(CIITA):c.3357C>T (p.His1119=) rs754706834
NM_000246.3(CIITA):c.366A>T (p.Ile122=)
NM_000246.3(CIITA):c.384C>T (p.Ile128=) rs140106499
NM_000246.3(CIITA):c.456G>A (p.Pro152=) rs151317882
NM_000246.3(CIITA):c.492C>G (p.Pro164=)