ClinVar Miner

Variants from Invitae with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from Invitae: Collection method of the submission from Invitae:
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
461991 32453 298 11854 11867 136 2535 25122

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
Invitae pathogenic likely pathogenic uncertain significance likely benign benign affects association drug response protective risk factor other
pathogenic 243 3232 537 27 11 5 0 27 1 16 10
likely pathogenic 695 13 314 5 2 0 0 2 1 2 2
uncertain significance 710 760 18 839 203 3 0 3 1 9 1
likely benign 102 82 7978 2 1588 0 0 2 0 9 0
benign 110 49 2868 6340 22 4 4 6 0 13 3
association 4 3 2 0 1 0 0 0 0 2 0
other 3 0 4 3 13 0 0 0 0 0 0

Submitter to submitter summary #

Total submitters: 397
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
Illumina Clinical Services Laboratory,Illumina 0 6514 0 2288 4545 15 181 7014
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 2512 0 670 2218 6 81 2972
GeneDx 0 6238 6 1940 729 1 173 2847
Counsyl 0 2408 0 1637 275 1 288 2201
Natera, Inc. 0 4560 0 293 1158 3 20 1474
CeGaT Praxis fuer Humangenetik Tuebingen 0 1207 0 458 848 1 82 1388
Genetic Services Laboratory, University of Chicago 0 985 0 693 479 1 42 1214
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 2945 0 544 292 3 58 897
Mendelics 0 1564 0 350 376 7 115 848
Athena Diagnostics Inc 0 1837 0 402 187 0 35 623
Integrated Genetics/Laboratory Corporation of America 0 2554 0 442 97 1 62 602
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 302 0 486 93 0 6 585
OMIM 0 1563 0 166 27 61 315 569
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1595 0 294 217 5 43 559
PreventionGenetics, PreventionGenetics 0 1396 0 373 85 0 24 482
GeneReviews 0 352 263 50 27 8 112 460
Baylor Genetics 0 1166 0 99 212 2 96 408
Ambry Genetics 0 1605 0 260 116 0 5 381
Fulgent Genetics,Fulgent Genetics 0 1076 0 94 185 1 14 294
Department of Pathology and Laboratory Medicine,Sinai Health System 0 242 0 78 186 1 10 275
Quest Diagnostics Nichols Institute San Juan Capistrano 0 618 0 133 87 0 2 221
LDLR-LOVD, British Heart Foundation 0 154 0 153 21 0 45 219
Mayo Clinic Laboratories, Mayo Clinic 0 186 0 90 81 0 7 177
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 112 0 3 148 0 1 152
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 182 0 65 80 0 6 151
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 172 0 114 22 1 3 140
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 160 0 73 33 1 23 130
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 193 0 111 13 3 2 129
Broad Institute Rare Disease Group, Broad Institute 0 262 0 72 18 2 34 125
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 245 0 43 34 0 45 122
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 187 0 98 9 1 1 109
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 72 0 63 11 0 33 107
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 138 0 26 36 0 42 104
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 0 148 0 51 4 0 47 102
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 11 77 0 0 13 101
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 234 0 51 30 2 17 100
Color Health, Inc 0 372 0 61 20 1 12 94
Leiden Open Variation Database 0 189 0 35 30 0 27 92
Institute of Human Genetics, University of Leipzig Medical Center 0 200 0 42 17 1 31 91
Robarts Research Institute,Western University 0 29 0 80 4 0 6 90
Research and Development, ARUP Laboratories 0 179 1 25 1 0 42 69
ClinGen RASopathy Variant Curation Expert Panel 0 120 0 35 21 0 13 69
CSER _CC_NCGL, University of Washington 0 63 0 17 39 1 10 67
Myriad Women's Health, Inc. 0 220 0 57 0 0 2 59
Fundacion Hipercolesterolemia Familiar 0 55 0 29 6 0 23 58
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 105 0 21 23 0 13 56
NIHR Bioresource Rare Diseases, University of Cambridge 0 32 0 36 5 0 16 55
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 162 0 33 7 0 12 52
Cancer Genetics Laboratory,Peter MacCallum Cancer Centre 0 31 0 27 24 0 0 51
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation 0 27 0 39 3 0 9 51
SIB Swiss Institute of Bioinformatics 0 36 0 32 12 0 6 50
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 38 0 18 16 0 15 49
Blueprint Genetics 0 85 0 16 13 1 17 47
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 8 0 15 21 0 10 46
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 97 0 24 0 0 22 46
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 74 0 41 4 0 0 45
ClinGen PAH Variant Curation Expert Panel 0 107 0 30 5 0 9 44
Institute of Human Genetics, Klinikum rechts der Isar 0 97 0 20 0 0 22 42
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 82 0 34 2 2 2 40
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 54 0 22 6 0 12 40
ClinGen CDH1 Variant Curation Expert Panel 0 107 0 29 10 0 0 39
Iberoamerican FH Network 0 29 0 19 5 0 14 38
Gharavi Laboratory,Columbia University 0 25 0 16 4 0 17 37
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 37 0 14 12 1 8 35
Johns Hopkins Genomics, Johns Hopkins University 0 135 0 17 3 1 14 35
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 179 0 19 0 0 14 33
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 0 19 0 13 1 0 19 33
New York Genome Center 0 47 0 5 22 0 6 33
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 44 0 17 5 1 10 32
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 66 0 14 2 0 16 32
University of Washington Department of Laboratory Medicine, University of Washington 0 9 0 8 20 1 2 31
ClinGen PTEN Variant Curation Expert Panel 0 47 0 14 6 0 10 30
Brunham Lab, Centre for Heart and Lung Innovation,University of British Columbia 0 49 0 18 1 0 11 30
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 37 5 5 17 0 2 29
PharmGKB 0 0 0 0 0 29 0 29
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova 0 18 0 21 1 0 7 29
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 80 0 24 3 0 2 29
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 5 0 25 3 0 0 28
Division of Human Genetics,Children's Hospital of Philadelphia 0 47 0 15 6 0 6 27
University of Washington Center for Mendelian Genomics, University of Washington 0 2 0 13 0 0 15 27
ClinGen TP53 Variant Curation Expert Panel,ClinGen 0 25 0 6 17 0 4 27
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 49 0 12 9 0 5 26
Nilou-Genome Lab 0 12 0 9 16 1 0 26
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 73 0 8 10 0 7 25
Collagen Diagnostic Laboratory,University of Washington 0 36 0 21 0 0 3 24
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 55 0 12 2 0 9 23
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 72 0 9 3 0 11 23
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 21 0 19 2 0 2 23
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 27 0 16 0 0 6 22
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 33 0 7 7 0 8 22
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 26 0 13 0 0 8 21
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 25 0 10 8 0 2 20
Elsea Laboratory,Baylor College of Medicine 0 19 0 4 12 0 4 20
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 33 0 10 2 0 8 20
Medical Genetics, University of Parma 0 53 0 8 4 0 8 20
Pars Genome Lab 0 9 0 11 8 0 1 20
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 38 0 13 0 0 6 19
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency 0 29 0 1 18 0 0 19
Paris Brain Institute,Inserm - ICM 0 59 0 6 0 0 13 19
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 4 0 9 1 0 9 18
Database of Curated Mutations (DoCM) 0 3 0 9 0 0 9 18
SingHealth Duke-NUS Institute of Precision Medicine 0 10 0 10 4 1 3 18
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 26 0 4 4 0 10 17
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 0 599 0 15 0 0 2 17
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel, ClinGen 0 51 0 14 2 0 1 17
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 75 0 7 2 0 7 16
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 1 10 3 0 2 16
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 21 0 3 2 0 11 16
ClinGen Myeloid Malignancy Variant Curation Expert Panel 0 25 0 8 5 0 3 16
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute,Kanazawa Medical University 0 44 0 12 3 0 1 16
Medical Genomics Laboratory,Department of Genetics UAB 0 24 0 3 0 0 12 15
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 64 0 2 1 0 12 15
Cardiovascular Biomarker Research Laboratory,Mayo Clinic 0 7 0 7 7 0 1 15
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 0 18 0 7 3 0 4 14
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 7 0 0 7 14
Center for Human Genetics,University of Leuven 0 48 0 6 1 0 7 14
Phosphorus, Inc. 0 13 0 3 10 1 0 14
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 17 0 8 6 0 0 14
Centogene AG - the Rare Disease Company 0 46 0 7 0 0 6 13
Martin Pollak Laboratory, Beth Israel Deaconess Medical Center 0 0 4 0 9 0 0 13
Service de Génétique Moléculaire,Hôpital Robert Debré 0 12 0 7 4 0 2 13
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 0 23 0 8 2 0 3 13
CFTR-France 0 171 0 7 0 0 6 13
UCLA Clinical Genomics Center, UCLA 0 7 0 10 0 0 2 12
Center for Bioinformatics, Peking University 0 37 0 6 0 0 6 12
Laboratory of Molecular Genetics,National Medical Research Center for Therapy and Preventive Medicine 0 2 0 3 1 0 8 12
ATS em Genética Clínica,Universidade Federal do Rio Grande do Sul 0 5 0 11 0 0 1 12
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 39 0 8 2 0 1 11
CFTR2 0 175 0 8 0 0 3 11
Pathway Genomics 0 34 0 6 5 0 0 11
Institute for Integrative and Experimental Genomics,University of Luebeck 0 0 0 6 0 0 5 11
Undiagnosed Diseases Network,NIH 0 24 0 3 1 0 8 11
Dan Cohn Lab,University Of California Los Angeles 0 2 0 1 0 0 10 11
Inherited Neuropathy Consortium 0 6 0 1 4 0 6 11
Department of Pediatrics, Gifu University 0 12 0 7 0 0 4 11
Molecular Biology Laboratory, Fundació Puigvert 0 9 0 9 0 0 2 11
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 32 0 2 0 1 7 10
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 29 0 5 0 1 4 10
Albrecht-Kossel-Institute,Medical University Rostock 0 1 0 3 2 0 4 9
Sharon lab,Hadassah-Hebrew University Medical Center 0 17 0 2 0 0 7 9
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 17 0 4 1 0 4 9
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 8 0 3 1 0 5 9
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 5 0 3 3 1 1 8
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 13 0 5 2 0 1 8
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 16 0 1 3 0 4 8
Division of Medical Genetics, University of Washington 0 22 0 2 4 0 2 8
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 27 0 4 0 0 3 7
Inserm U 954, Faculté de Médecine de Nancy 0 4 3 3 0 0 1 7
Center for Medical Genetics Ghent,University of Ghent 0 6 0 5 0 0 3 7
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 2 0 6 0 0 1 7
Ocular Genomics Institute, Massachusetts Eye and Ear 0 8 0 5 0 0 2 7
Hereditary Cancer Genetics group,Vall d'Hebron Institute of Oncology 0 13 0 6 1 0 0 7
Genetics and Genomics Program,Sidra Medicine 0 9 0 3 2 0 2 7
Faculty of Health Sciences,Beirut Arab University 0 24 0 2 0 0 5 7
Molecular Genetics Laboratory,Institute for Ophthalmic Research 0 0 0 1 0 0 5 6
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 0 16 0 3 0 0 3 6
Invitae 518722 838 0 1 5 0 2 6
Northcott Neuroscience Laboratory, ANZAC Research Institute 0 0 2 2 1 0 1 6
University Children's Hospital, University of Zurich 0 4 0 2 0 0 4 6
GeneKor MSA 0 34 0 4 2 0 0 6
UW Hindbrain Malformation Research Program,University of Washington 0 9 0 0 0 0 6 6
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 2 0 2 4 0 2 6
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 5 0 0 2 0 4 6
Breast Center,Key Laboratory of Carcinogenesis and Translational Research 0 10 0 1 2 0 3 6
Pediatrics,All India Institute of Medical Sciences, New Delhi 0 0 0 1 0 5 0 6
Claritas Genomics 0 2 0 1 4 0 0 5
Institute of Human Genetics,Cologne University 0 10 0 1 1 0 3 5
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 29 0 4 0 0 1 5
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 0 38 1 4 0 0 0 5
Genetics Laboratories, Oxford Radcliffe Hospitals NHS Trust 0 0 0 3 2 0 0 5
Centre for Human Genetics 0 5 0 2 0 0 3 5
Hadassah Hebrew University Medical Center 0 7 0 2 0 0 3 5
Medical Research Institute,Tokyo Medical and Dental University 0 1 0 2 0 0 3 5
Institute of Human Genetics,University of Wuerzburg 0 2 0 1 2 0 2 5
Molecular Oncology Laboratory,Hospital Clínico San Carlos 0 11 0 1 3 0 1 5
Genomic Medicine Lab, University of California San Francisco 0 16 0 3 1 0 1 5
Department of Human Genetics,Laborarztpraxis Dres. Walther, Weindel und Kollegen 0 10 0 4 1 0 0 5
Genesis Genome Database 0 4 0 0 2 0 3 5
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 2 0 1 0 0 4 5
Sydney Genome Diagnostics,Children's Hospital Westmead 0 13 0 1 2 0 2 5
RettBASE 0 30 0 4 0 0 0 4
Centre of Medical Genetics, University of Antwerp 0 1 0 1 1 0 2 4
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 5 0 2 1 0 1 4
Human Genetics - Radboudumc,Radboudumc 0 2 0 0 0 0 4 4
Center of Medical Genetics and Primary Health Care 0 7 0 1 2 0 1 4
Department of Laboratory Medicine and Genetics,Trillium Health Partners Credit Valley Hospital 0 8 0 3 1 0 0 4
Laboratory of Medical Genetics, INSERM 0 16 0 2 0 0 2 4
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 35 0 1 1 0 2 4
Institute of Reproductive Genetics, University of Münster 0 0 0 1 3 0 0 4
Reproductive Health Research and Development,BGI Genomics 0 26 0 2 1 0 1 4
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 4 0 0 0 0 4 4
Laboratory of Genetics in Ophthalmology,Institut Imagine 0 26 0 1 0 0 3 4
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 4 0 2 0 0 2 4
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 7 0 1 1 0 1 3
Clinical Genetics laboratory, University of Goettingen 0 4 0 0 1 0 2 3
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 0 21 0 0 0 0 3 3
Division of Human Genetics,Medical University Innsbruck 0 2 0 0 0 0 3 3
SNPedia 0 4 0 3 0 0 0 3
Center for Individualized Medicine,Mayo Clinic 0 1 0 3 0 0 0 3
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 7 0 2 1 0 0 3
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 0 1 0 1 0 0 2 3
Herman Laboratory,Nationwide Children's Hospital 0 12 0 1 0 0 2 3
TIDEX, University of British Columbia 0 4 0 1 1 0 1 3
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 5 0 2 1 0 2 3
Medical & Molecular Genetics Group,University of Lincoln 0 15 0 0 1 0 2 3
Department of Immunology,University Hospital Southampton NHSFT 0 1 0 0 0 0 3 3
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 11 0 2 0 0 1 3
Bruce Budowle Laboratory,University of North Texas Health Science Center 0 0 0 0 0 3 0 3
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 0 7 0 2 0 0 1 3
Codex Genetics Limited 0 1 0 0 0 0 3 3
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 1 0 1 1 0 1 3
Autoinflammatory diseases unit,CHU de Montpellier 0 23 0 2 0 0 1 3
Clinical Genomics Program, Stanford Medicine 0 6 0 0 0 0 3 3
UniProtKB/Swiss-Prot 0 81 0 1 1 0 0 2
Department of Genetics,Robert DEBRE University Hospital 0 1 0 1 0 0 1 2
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 0 6 0 0 0 0 2 2
Center for Genetic Medicine Research,Children's National Medical Center 0 3 0 0 1 0 1 2
Institute of Human Genetics,University Medical Center Hamburg-Eppendorf 0 2 0 1 0 0 1 2
Shaikh Laboratory, University of Colorado 0 0 0 2 0 0 0 2
Forschungslabor Klinik Innere Medizin A University Medicine Greifswald 0 0 0 0 2 0 0 2
CHU Sainte-Justine Research Center,University of Montreal 0 1 0 2 0 0 0 2
Department of Molecular and Human Genetics, Baylor College of Medicine 0 3 0 0 1 0 1 2
Centre for Translational Omics - GOSgene,University College London 0 0 0 2 0 0 0 2
National Institute of Mental Health and Neurosciences 0 0 0 1 1 0 0 2
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust 0 5 0 1 0 0 1 2
Vantari Genetics 0 1 0 0 2 0 0 2
Genetic Testing Lab, Ashok and Rita Patel Institute of Integrated Study and Research in Biotechnology and Allied Sciences 0 0 0 0 0 2 0 2
Kasturba Medical College, Manipal University 0 4 0 1 0 0 1 2
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 0 4 0 0 0 0 2 2
Yale Center for Mendelian Genomics,Yale University 0 3 0 1 0 0 1 2
Department of Pathology and Molecular Medicine,Queen's University 0 50 0 2 0 0 0 2
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 1 0 1 1 0 0 2
Kariminejad - Najmabadi Pathology & Genetics Center 0 2 0 1 1 0 0 2
Department of Human Genetics, University Hospital Magdeburg 0 4 0 2 0 0 0 2
Pediatric Metabolic Diseases,Hacettepe University 0 4 0 2 0 0 0 2
Institute of Human Genetics,Polish Academy of Sciences 0 0 0 0 2 0 0 2
IRCCS Fondazione Stella Maris,University of Pisa 0 0 0 0 0 0 2 2
Biochemistry Laboratory of CDMU,Chengde Medical University 0 5 0 1 0 0 2 2
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 0 21 0 0 1 0 1 2
Center for Reproductive Medicine, Peking University Third Hospital 0 1 0 0 1 0 1 2
Swedish Neurofibromatosis Center,Swedish Medical Center 0 1 0 0 0 0 2 2
Pittsburgh Clinical Genomics Laboratory,University of Pittsburgh Medical Center 0 5 0 1 1 0 0 2
Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University 0 5 0 2 0 0 1 2
Molecular Genetics of Inherited Kidney Disorders Laboratory,Garvan Institute of Medical Research 0 4 0 2 0 0 0 2
ClinGen Platelet Disorders Variant Curation Expert Panel,ClinGen 0 8 0 1 0 0 1 2
Child Health and Human Development Program,Research Institute of the McGill University Health Center 0 8 0 0 0 0 2 2
Laboratory of Molecular Genetics,Children's Memorial Health Institute 0 4 0 2 0 0 0 2
Laboratory of Molecular Genetics and Genomics,Rennes University Hospital 0 3 0 2 0 0 0 2
Huiwen Zhang's lab,Shanghai Jiao Tong University School of Medicine, Xinhua Hospital 0 0 0 1 0 0 1 2
Genetic Diagnostic Laboratory,University of Pennsylvania School of Medicine 0 20 0 0 0 0 1 1
King Laboratory,University of Washington 0 1 0 0 0 0 1 1
Molecular Genetics Laboratory,Edith Wolfson Medical Center 0 0 0 0 0 0 1 1
Hehr Laboratory,Center for Human Genetics - University of Regensburg 0 1 0 1 0 0 0 1
Institute of Medical Molecular Genetics, University of Zurich 0 0 0 0 0 0 1 1
MVZ Dr. Eberhard & Partner Dortmund 0 0 0 1 0 0 0 1
Sema4,Sema4 0 0 0 1 0 0 0 1
American College of Medical Genetics and Genomics (ACMG) 0 22 0 0 0 0 1 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 0 0 1
Strand Center for Genomics and Personalized Medicine,Strand Life Sciences Pvt Ltd 0 0 0 0 0 0 1 1
Eye Genetics Research Group,Children's Medical Research Institute 0 1 0 0 1 0 0 1
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 0 1 0 0 0 0 1 1
LISIN Facultad de Ciencias Exactas, Universidad Nacional de La Plata 0 6 0 0 0 0 1 1
McKusick-Nathans Institute of Genetic Medicine,Johns Hopkins University 0 0 0 0 0 0 1 1
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 0 0 0 0 0 0 1 1
George Lab Vanderbilt University 0 0 0 1 0 0 0 1
Department of Psychiatry,Nagoya University 0 0 0 1 0 0 1 1
Centre de Recherche Saint Antoine, Université Pierre et Marie Curie 0 1 0 0 0 0 1 1
Wellcome Centre for Mitochondrial Research,Newcastle University 0 3 0 1 0 0 0 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 0 1 0 1 0 0 0 1
Laboratory of Cell Biology, Institute of Biomedical Sciences Abel Salazar (ICBAS) 0 0 0 0 0 0 1 1
Samuels research lab,Centre de Recherche du CHU Ste-Justine 0 1 0 0 0 0 1 1
TilsonLab,Columbia University 0 0 0 0 0 0 1 1
Unidad de Estudios Geneticos y Forenses,Instituto Venezolano de Investigaciones Cientificas 0 0 0 0 0 0 1 1
Bonnen Lab,Baylor College of Medicine 0 0 0 0 0 0 1 1
Chan Lab,Boston Children's Hospital 0 0 0 0 0 0 1 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 1 0 0 0 0 1 1
Department of Hematology,University of Health Sciences 0 0 0 1 0 0 0 1
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia,Universidade Católica de Brasília 0 1 0 0 0 0 1 1
Laboratory of Human Genetics,Universidade de São Paulo 0 0 0 0 0 0 1 1
Department of Internal Medicine, University of Texas Health Science Center at Houston 0 1 0 0 1 0 0 1
Dept of Medicine and Surgery, University of Milano-Bicocca 0 0 0 0 0 0 1 1
Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health 0 0 0 1 0 0 0 1
Laboratory of Metabolic Disorders, Peking University First Hospital 0 2 0 0 0 0 1 1
Genome Sciences Centre,British Columbia Cancer Agency 0 0 0 1 0 0 1 1
Centre for Genomic and Experimental Medicine,University of Edinburgh 0 5 0 1 0 0 0 1
McDonnell Genome Institute,Washington University in St. Louis 0 0 0 0 0 0 1 1
Dr. Peter K. Rogan Lab,Western University 0 0 0 0 1 0 0 1
Aziz Sancar Institute of Experimental Medicine,Istanbul University 0 1 0 0 0 1 0 1
Center for Neuroscience and Cell Biology,University of Coimbra, Portugal 0 0 0 1 0 0 0 1
Genetic Predisposition to Colorectal Cancer Group,Institut d’Investigacions Biomediques August Pi i Sunyer 0 0 0 0 0 0 1 1
Medical Biochemical Genetics, National Human Genome institute, NIH,National Institutes of Health 0 0 0 0 0 0 1 1
Laboratory Genomica,Gynecology and Assisted Reproduction Hospital Malinov DM 0 0 0 0 0 0 1 1
Institute for Genomic Medicine, Columbia University,Columbia University Medical Center 0 2 0 1 0 0 0 1
Neurogenetics Laboratory,GH Pitie Salpetriere APHP 0 0 0 1 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 10 0 0 1 0 0 1
Department of Prenatal Diagnosis, Women’s Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital 0 0 0 1 0 0 0 1
Biology Pathology Center,Lille University Hospital 0 0 0 1 0 0 0 1
Department of Ophthalmology,Flinders Medical Centre 0 0 0 0 0 0 1 1
Diagnostic Laboratory, Strasbourg University Hospital 0 1 0 0 0 0 1 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 2 0 1 0 0 0 1
Translational Genomics Laboratory,University of Maryland School of Medicine 0 0 0 1 0 0 0 1
Shendure Lab,University of Washington 0 1 0 1 0 0 0 1
Medical Molecular Genetics Department, National Research Center 0 5 0 1 0 0 0 1
GenePathDx,Causeway Health Care Private Ltd 0 2 0 1 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 8 0 1 0 0 0 1
Alexion Pharmaceuticals, Inc 0 2 0 1 0 0 0 1
Clinical Pharmacogenetics Implementation Consortium 0 0 0 0 0 1 0 1
Kamineni Academy of Medical Sciences & Research Centre, Kamineni Hospitals 0 0 0 0 0 0 1 1
Neurology Department,Peking University First Hospital 0 5 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
Daryl Scott Lab,Baylor College of Medicine 0 1 0 0 0 0 1 1
Neurogenetics Laboratory - MEYER,AOU Meyer 0 1 0 0 0 0 1 1
Genetics,Medical University of Vienna 0 0 0 1 0 0 0 1
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center 0 0 0 1 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 0 7 0 0 0 0 1 1
Oxford Haemato-Oncology Service,Oxford University Hospitals NHS Foundation Trust 0 0 0 0 0 1 0 1
Ege University Pediatric Genetics,Ege University 0 0 0 0 0 0 1 1
Genetic and Metabolic Disease Program, Children's Medical Center Research Institute,UT Southwestern Medical Center at Dallas 0 0 0 0 0 0 1 1
Columbia University Medical Center,Columbia University 0 0 0 1 0 0 0 1
Rampazzo Lab, Human Molecular Genetics Unit,University of Padua 0 1 0 1 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 6 0 1 0 0 0 1
Institute of Cellular and Molecular Medicine,Copenhagen University 0 0 0 1 0 0 1 1
Flegel Lab,National Institutes of Health 0 0 0 0 0 0 1 1
Centre for Arab Genomic Studies,Sheikh Hamdan Award for Medical Sciences 0 3 0 0 0 0 1 1
Genetics Laboratory,Facudade de Medicina de Sao Jose do Rio Preto 0 0 0 0 1 0 0 1
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP 0 4 0 0 1 0 0 1
Unidade de Bioquimica Genetica,Centro Hospitalar do Porto 0 0 0 1 0 0 0 1
Degerman lab,Umeå University 0 0 0 0 0 0 1 1
Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades,CHU Paris - Hôpital Necker-Enfants Malades 0 0 0 0 0 0 1 1
Center for Precision Medicine,Vanderbilt University Medical Center 0 4 0 0 0 0 1 1
Fan Lab,Zhengzhou University 0 0 0 0 0 0 1 1
Gill Bejerano Lab,Stanford University 0 0 0 1 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 0 0 1 0 0 0 1
Laboratoire de Genetique Moleculaire,Centre Hospitalier Universitaire de Bordeaux 0 0 0 0 0 0 1 1
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 0 0 0 1 0 0 1 1
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano 0 0 0 0 1 0 1 1
Tehran Medical Genetics Laboratory 0 0 0 1 0 0 0 1
Cancer Diagnostics Division,Gene Solutions 0 0 0 1 0 0 0 1
Division of Genetic Medicine, Lausanne University Hospital 0 0 0 1 0 0 0 1
Kids Research, The Children's Hospital at Westmead 0 1 0 1 0 0 0 1
Division of Medical Genetics at University of Versailles, Paris Saclay University 0 0 0 0 0 0 1 1
Department of Biotechnology and Microbiology,Karnatak University Dharwad 0 0 0 0 0 0 1 1
Michaelson Lab,University of Iowa 0 0 0 0 0 0 1 1
Core Molecular Diagnostic Lab, McGill University Health Centre 0 0 0 1 0 0 0 1
Institute of Clinical Molecular Biology,Kiel University 0 0 0 0 0 0 1 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 8 0 0 0 0 1 1
Center for Medical Genetics,GenVams Trust 0 0 0 1 0 0 0 1
Molecular Pathology Diagnostics Labratory,University of Iowa Hospitals & Clinics 0 0 0 1 0 0 1 1
Genetic Diseases Diagnostic Center,Koc University Hospital 0 0 0 1 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 0 4 0 0 0 0 1 1
Clinical Genetics, Amsterdam Medical Centre 0 0 0 0 1 0 0 1
Children's Medical Research Institute,University of Sydney 0 0 0 1 0 0 0 1
Clinical Genetics Laboratory,Federal University of Health Sciences of Porto Alegre 0 0 0 1 0 0 0 1
Department of Genetics of Metabolic Diseases, Institute of Medical & Molecular Genetics,Hospital Universitario Hospital La Paz 0 0 0 0 1 0 0 1
Klaassen Lab,Charite University Medicine Berlin 0 0 0 0 1 0 0 1
University of Iowa Renal Genetics Clinic,University of Iowa 0 0 0 0 1 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 7 0 1 0 0 0 1
Molecular Diagnostics, Microbiology, Virology, Parasitology and Genetics,Sofia University, St. Kliment Ohridski 0 0 0 0 0 0 1 1
GBinsight Genetic Testing by GB HealthWatch,Genben Lifesciences Corporation 0 0 0 0 0 0 1 1
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 0 0 0 0 0 0 1 1
Istituto Neurologico Mediterraneo,Istituto di Ricovero e Cura a Carattere Scientifico 0 0 0 1 0 0 0 1
Neurology Institute,Anhui University of Chinese Medicine 0 0 0 0 0 0 1 1
NxGen MDx 0 1 0 1 0 0 0 1
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 0 1 0 1 0 0 0 1
UT Southwestern Medical Center, UT Southwestern Medical Center 0 0 0 0 0 1 0 1
Al Jalila Children's Genomics Center,Al Jalila Childrens Speciality Hospital 0 1 0 0 1 0 0 1
Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta 0 0 0 0 0 0 1 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 3 0 0 1 0 0 1
Department of Biochemistry, Faculty of Medicine, University of Khartoum 0 0 0 0 0 0 1 1
Section for Clinical Neurogenetics,University of Tübingen 0 2 0 1 0 0 0 1
Fundacion Favaloro,PRICAI 0 0 0 0 0 0 1 1
Genetics Institute, Tel Aviv Sourasky Medical Center 0 0 0 1 0 0 0 1
Genomics, and Precision Dentistry Research Unit, Faculty of Dentistry, Chulalongkorn University 0 0 0 0 0 0 1 1
Pediatric Oncology, Johns Hopkins University 0 2 0 0 1 0 0 1
Institute of Medical Sciences, Banaras Hindu University 0 0 0 0 0 1 0 1
Research Center for Genetics and Reproductive Health,Viet Nam National University HCMC 0 0 0 0 0 0 1 1
CeMIA 0 0 0 0 0 1 0 1
Institute for Medical Immunology,Charité - Universitätsmedizin Berlin 0 0 0 0 0 1 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 0 3 0 0 1 0 0 1
Molecular Genetics laboratory,Necker Hospital 0 1 0 0 0 0 1 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 2 0 1 0 0 0 1
Central Laboratory,The First Hospital of Lanzhou University 0 0 0 0 0 0 1 1
Children’s Center Hospital,Tehran University of Medical Sciences 0 0 0 0 0 1 0 1
Cardiogenetic Research Center,Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 0 3 0 0 0 0 1 1
MAGI's Lab - Research,MAGI Group 0 1 0 0 1 0 0 1
Amsterdam Leukodystrophy Center,Amsterdam UMC 0 0 0 0 0 0 1 1
International Fanconi Anemia Registry,The Rockefeller University 0 0 0 0 0 0 1 1
National Institute of Neuroscience,National Center of Neurology and Psychiatry 0 2 0 0 0 0 1 1
Pediatrics, MediClubGeorgia 0 2 0 0 0 0 1 1
Laboratory for Molecular Genetic Diagnostic of Neurological Diseases,University of Belgrade, School of Medicine 0 1 0 0 0 0 1 1
?Provincial Medical Genetics Program?,BC Women and Children's Hospital 0 0 0 0 1 0 1 1
Dept. Genetics and Cancer, Menzies Institute for Medical Research,University of Tasmania 0 0 0 0 1 0 1 1
CMT Laboratory,Bogazici University 0 2 0 1 0 0 0 1
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center 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: 25122
Download table as spreadsheet
HGVS dbSNP
CYP2C19*15 rs17882687
NC_000002.12:g.(?_47482779)_(47482949_?)del
NC_000005.10:g.13721172C>T
NC_000011.10:g.5225460A>C rs560643693
NC_000021.9:g.(?_34787801)_(34799462_?)del
NG_042874.1(ACD)::g.5474del rs753666055
NM_000016.5(ACADM):c.1034A>T (p.Asp345Val) rs771978135
NM_000016.5(ACADM):c.1045C>T (p.Arg349Ter) rs148207467
NM_000016.5(ACADM):c.1046G>T (p.Arg349Leu) rs760335676
NM_000016.5(ACADM):c.1052C>T (p.Thr351Ile) rs766140986
NM_000016.5(ACADM):c.1114dup (p.Ala372fs) rs1057516278
NM_000016.5(ACADM):c.1150G>T (p.Glu384Ter) rs748110745
NM_000016.5(ACADM):c.1189T>A (p.Tyr397Asn) rs759158371
NM_000016.5(ACADM):c.1207A>G (p.Thr403Ala) rs1462472677
NM_000016.5(ACADM):c.1221_1222del (p.Arg408fs) rs875989860
NM_000016.5(ACADM):c.1247T>C (p.Ile416Thr) rs760892123
NM_000016.5(ACADM):c.1257C>A (p.Tyr419Ter) rs753928772
NM_000016.5(ACADM):c.127G>A (p.Glu43Lys) rs147559466
NM_000016.5(ACADM):c.134A>G (p.Gln45Arg) rs757434857
NM_000016.5(ACADM):c.157C>T (p.Arg53Cys) rs398123072
NM_000016.5(ACADM):c.158G>A (p.Arg53His) rs754938068
NM_000016.5(ACADM):c.210T>G (p.Thr70=) rs778891510
NM_000016.5(ACADM):c.250C>T (p.Leu84Phe) rs762114560
NM_000016.5(ACADM):c.287-10G>C rs368875210
NM_000016.5(ACADM):c.287-2A>G rs1057518677
NM_000016.5(ACADM):c.320T>C (p.Leu107Ser) rs746136472
NM_000016.5(ACADM):c.347G>A (p.Cys116Tyr) rs875989859
NM_000016.5(ACADM):c.362C>T (p.Thr121Ile) rs121434283
NM_000016.5(ACADM):c.387+1del rs786204424
NM_000016.5(ACADM):c.388-3T>G rs764942250
NM_000016.5(ACADM):c.388-5G>A rs759254037
NM_000016.5(ACADM):c.395C>G (p.Pro132Arg) rs875989854
NM_000016.5(ACADM):c.3G>C (p.Met1Ile) rs1553121887
NM_000016.5(ACADM):c.443G>A (p.Arg148Lys) rs778906552
NM_000016.5(ACADM):c.447G>T (p.Met149Ile) rs121434277
NM_000016.5(ACADM):c.469-9A>G rs181322317
NM_000016.5(ACADM):c.526G>T (p.Ala176Ser) rs200754053
NM_000016.5(ACADM):c.558T>A (p.Asn186Lys) rs754359356
NM_000016.5(ACADM):c.577A>G (p.Thr193Ala) rs121434279
NM_000016.5(ACADM):c.57T>C (p.His19=) rs762984318
NM_000016.5(ACADM):c.580A>G (p.Asn194Asp) rs773677327
NM_000016.5(ACADM):c.582C>T (p.Asn194=) rs778535261
NM_000016.5(ACADM):c.583G>A (p.Gly195Arg) rs121434278
NM_000016.5(ACADM):c.599+2T>C rs148260275
NM_000016.5(ACADM):c.600-18G>A rs370523609
NM_000016.5(ACADM):c.609A>C (p.Leu203Phe) rs751829413
NM_000016.5(ACADM):c.616C>T (p.Arg206Cys) rs373715782
NM_000016.5(ACADM):c.617G>A (p.Arg206His) rs200724875
NM_000016.5(ACADM):c.645T>A (p.Ala215=) rs147395095
NM_000016.5(ACADM):c.678A>G (p.Ala226=) rs2229249
NM_000016.5(ACADM):c.683C>A (p.Thr228Asn) rs149678400
NM_000016.5(ACADM):c.698T>C (p.Ile233Thr) rs770273135
NM_000016.5(ACADM):c.709-2A>C rs1553125211
NM_000016.5(ACADM):c.734C>T (p.Ser245Leu) rs121434281
NM_000016.5(ACADM):c.755T>G (p.Phe252Cys) rs780510026
NM_000016.5(ACADM):c.757G>A (p.Glu253Lys) rs768884003
NM_000016.5(ACADM):c.797A>G (p.Asp266Gly) rs201375579
NM_000016.5(ACADM):c.799G>A (p.Gly267Arg) rs121434274
NM_000016.5(ACADM):c.843A>T (p.Arg281Ser) rs780504551
NM_000016.5(ACADM):c.926dup (p.Gly310fs) rs875989864
NM_000016.5(ACADM):c.928G>A (p.Gly310Arg) rs747268471
NM_000016.5(ACADM):c.946-6T>G rs765793260
NM_000016.5(ACADM):c.984del (p.Met328fs) rs747610156
NM_000016.5(ACADM):c.994C>T (p.Leu332=) rs138098371
NM_000016.5(ACADM):c.999_1011dup (p.Gln338Ter) rs1225471006
NM_000016.6(ACADM):c.1237C>T (p.Arg413Cys)
NM_000016.6(ACADM):c.199T>C (p.Tyr67His) rs121434280
NM_000016.6(ACADM):c.276A>G (p.Pro92=)
NM_000016.6(ACADM):c.424AAG[2] (p.Lys144del) rs875989857
NM_000016.6(ACADM):c.927C>T (p.Phe309=)
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234
NM_000017.4(ACADS):c.1031A>G (p.Glu344Gly) rs387906950
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu) rs28941773
NM_000017.4(ACADS):c.107dup (p.Thr37fs) rs750941135
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.136C>T (p.Arg46Trp) rs121908003
NM_000017.4(ACADS):c.1A>G (p.Met1Val) rs1291226969
NM_000017.4(ACADS):c.268G>A (p.Gly90Ser) rs121908005
NM_000017.4(ACADS):c.274G>T (p.Gly92Cys) rs121908004
NM_000017.4(ACADS):c.307GAG[1] (p.Glu104del) rs387906308
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.529T>C (p.Trp177Arg) rs57443665
NM_000017.4(ACADS):c.575C>T (p.Ala192Val) rs28940874
NM_000017.4(ACADS):c.596C>T (p.Ala199Val) rs766579880
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_000017.4(ACADS):c.973C>T (p.Arg325Trp) rs121908006
NM_000018.2(ACADVL):c.343delG (p.Glu115Lysfs) rs387906249
NM_000018.4(ACADVL):c.1001T>G (p.Met334Arg) rs398123079
NM_000018.4(ACADVL):c.1064T>C (p.Ile355Thr) rs1351976589
NM_000018.4(ACADVL):c.1066A>G (p.Ile356Val) rs150140386
NM_000018.4(ACADVL):c.1077+1G>A rs140989450
NM_000018.4(ACADVL):c.1077+1G>T rs140989450
NM_000018.4(ACADVL):c.1077+2T>C rs1057516370
NM_000018.4(ACADVL):c.1077G>A (p.Ala359=) rs779458466
NM_000018.4(ACADVL):c.1077_1077+1delinsCAC rs1057516686
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys) rs771874163
NM_000018.4(ACADVL):c.1097G>A (p.Arg366His) rs112406105
NM_000018.4(ACADVL):c.1103A>C (p.Gln368Pro) rs776063244
NM_000018.4(ACADVL):c.114G>C (p.Arg38=)
NM_000018.4(ACADVL):c.1182+1G>A rs113690956
NM_000018.4(ACADVL):c.1183-15A>G rs765390290
NM_000018.4(ACADVL):c.1220G>C (p.Gly407Ala) rs904631654
NM_000018.4(ACADVL):c.1226C>T (p.Thr409Met)
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.1273G>A (p.Ala425Thr) rs138834083
NM_000018.4(ACADVL):c.1283del (p.Lys428fs) rs1555528745
NM_000018.4(ACADVL):c.1284G>A (p.Lys428=)
NM_000018.4(ACADVL):c.1313G>A (p.Gly438Glu) rs748450834
NM_000018.4(ACADVL):c.1316G>A (p.Gly439Asp) rs533055438
NM_000018.4(ACADVL):c.1328T>G (p.Met443Arg) rs886043236
NM_000018.4(ACADVL):c.1357C>T (p.Arg453Ter) rs794727113
NM_000018.4(ACADVL):c.1358G>A (p.Arg453Gln) rs138058572
NM_000018.4(ACADVL):c.1360G>A (p.Asp454Asn) rs1419606204
NM_000018.4(ACADVL):c.1367G>A (p.Arg456His) rs794727112
NM_000018.4(ACADVL):c.1375C>T (p.Arg459Trp) rs766742117
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln) rs751995154
NM_000018.4(ACADVL):c.1388G>A (p.Gly463Glu) rs200366828
NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp) rs113994170
NM_000018.4(ACADVL):c.1406G>A (p.Arg469Gln) rs398123083
NM_000018.4(ACADVL):c.1468G>C (p.Ala490Pro) rs759775666
NM_000018.4(ACADVL):c.1473A>G (p.Leu491=) rs150518187
NM_000018.4(ACADVL):c.1531C>T (p.Arg511Trp) rs771025937
NM_000018.4(ACADVL):c.1532G>A (p.Arg511Gln) rs200771970
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.1605+7G>A rs572010910
NM_000018.4(ACADVL):c.1678+23C>T rs147546456
NM_000018.4(ACADVL):c.1679-6G>A rs113994171
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln) rs398123084
NM_000018.4(ACADVL):c.1748C>G (p.Ser583Trp) rs1085307648
NM_000018.4(ACADVL):c.1770_1773del (p.Ser590fs) rs1555529048
NM_000018.4(ACADVL):c.1824C>T (p.Ile608=) rs146115467
NM_000018.4(ACADVL):c.1828-4C>G rs184559206
NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp) rs118204014
NM_000018.4(ACADVL):c.1838G>A (p.Arg613Gln) rs534647044
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.1878G>A (p.Trp626Ter) rs1555529186
NM_000018.4(ACADVL):c.1882del (p.Gln628fs) rs1597541142
NM_000018.4(ACADVL):c.1894C>T (p.Arg632Cys) rs151254520
NM_000018.4(ACADVL):c.192del (p.Lys64fs) rs771055189
NM_000018.4(ACADVL):c.201G>A (p.Lys67=)
NM_000018.4(ACADVL):c.216C>T (p.Ser72=) rs761492981
NM_000018.4(ACADVL):c.266del (p.Pro89fs) rs771808680
NM_000018.4(ACADVL):c.277+2T>G rs1555527745
NM_000018.4(ACADVL):c.278-1G>A
NM_000018.4(ACADVL):c.298_299del (p.Gln100fs) rs786204713
NM_000018.4(ACADVL):c.308A>G (p.Lys103Arg) rs140566084
NM_000018.4(ACADVL):c.308_309del (p.Lys103fs) rs1057516979
NM_000018.4(ACADVL):c.364A>G (p.Asn122Asp) rs1057520088
NM_000018.4(ACADVL):c.385GAG[1] (p.Glu130del) rs387906251
NM_000018.4(ACADVL):c.428_467del (p.Gly143fs) rs758144859
NM_000018.4(ACADVL):c.433C>T (p.Gln145Ter) rs786204738
NM_000018.4(ACADVL):c.497_498del (p.Ile166fs) rs1057516369
NM_000018.4(ACADVL):c.520G>A (p.Val174Met) rs369560930
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr) rs727503791
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser) rs545215807
NM_000018.4(ACADVL):c.605T>C (p.Leu202Pro) rs398123090
NM_000018.4(ACADVL):c.62+18G>A rs780776419
NM_000018.4(ACADVL):c.62+9G>A rs369512281
NM_000018.4(ACADVL):c.63-2A>C rs1555527513
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.637G>C (p.Ala213Pro) rs140629318
NM_000018.4(ACADVL):c.640T>G (p.Phe214Val) rs1192969297
NM_000018.4(ACADVL):c.644_647del (p.Phe214_Cys215insTer) rs1057516714
NM_000018.4(ACADVL):c.664G>A (p.Gly222Arg) rs398123091
NM_000018.4(ACADVL):c.678C>A (p.Ala226=) rs372114185
NM_000018.4(ACADVL):c.685C>T (p.Arg229Ter) rs786204536
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.753-27C>T rs374911841
NM_000018.4(ACADVL):c.779C>T (p.Thr260Met) rs113994168
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.829_831del (p.Glu277del) rs796051913
NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg) rs200788251
NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu) rs200573371
NM_000018.4(ACADVL):c.881_884dup (p.Pro296fs) rs766192888
NM_000018.4(ACADVL):c.887_888del (p.Pro296fs) rs753108198
NM_000018.4(ACADVL):c.889_891del (p.Glu297del) rs796051914
NM_000018.4(ACADVL):c.890AGA[2] (p.Lys299del) rs387906252
NM_000018.4(ACADVL):c.932del (p.Phe311fs) rs764488310
NM_000018.4(ACADVL):c.963C>T (p.Asn321=) rs568118142
NM_000018.4(ACADVL):c.996dup (p.Ala333fs) rs1057516843
NM_000019.4(ACAT1):c.1032AGA[1] (p.Glu345del) rs387906282
NM_000019.4(ACAT1):c.1136G>T (p.Gly379Val) rs120074143
NM_000019.4(ACAT1):c.1199A>G (p.His400Arg) rs761086326
NM_000019.4(ACAT1):c.1221C>T (p.Tyr407=) rs367713788
NM_000019.4(ACAT1):c.163_167delinsAA (p.Phe55_Leu56delinsLys) rs1591361995
NM_000019.4(ACAT1):c.171C>A (p.Gly57=)
NM_000019.4(ACAT1):c.239-8T>A rs202030208
NM_000019.4(ACAT1):c.248AAG[2] (p.Glu85del) rs866364527
NM_000019.4(ACAT1):c.433C>G (p.Gln145Glu) rs120074148
NM_000019.4(ACAT1):c.436-4G>C rs3741050
NM_000019.4(ACAT1):c.444_445del (p.Met148fs) rs727503795
NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp) rs148639841
NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser) rs199524907
NM_000019.4(ACAT1):c.483T>C (p.Tyr161=) rs1591367485
NM_000019.4(ACAT1):c.547G>A (p.Gly183Arg) rs120074141
NM_000019.4(ACAT1):c.578T>C (p.Met193Thr) rs541517496
NM_000019.4(ACAT1):c.578T>G (p.Met193Arg) rs541517496
NM_000019.4(ACAT1):c.60G>C (p.Arg20=) rs77311724
NM_000019.4(ACAT1):c.772C>T (p.Arg258Cys) rs753816946
NM_000019.4(ACAT1):c.935T>C (p.Ile312Thr) rs120074146
NM_000019.4(ACAT1):c.997G>C (p.Ala333Pro) rs120074147
NM_000020.2(ACVRL1):c.1120C>T (p.Arg374Trp) rs28936401
NM_000020.2(ACVRL1):c.1231C>T (p.Arg411Trp) rs121909287
NM_000020.2(ACVRL1):c.1324G>A (p.Val442Met) rs1085307421
NM_000020.2(ACVRL1):c.1348A>G (p.Thr450Ala) rs146206499
NM_000020.2(ACVRL1):c.200G>A (p.Arg67Gln) rs863223414
NM_000020.2(ACVRL1):c.207C>T (p.Cys69=) rs56080682
NM_000020.2(ACVRL1):c.642C>T (p.Gly214=) rs139008591
NM_000020.2(ACVRL1):c.706G>A (p.Glu236Lys) rs1592223490
NM_000020.2(ACVRL1):c.88C>T (p.Pro30Ser) rs149664056
NM_000020.2(ACVRL1):c.905T>C (p.Leu302Pro) rs1565594217
NM_000020.3(ACVRL1):c.1010T>C (p.Leu337Pro) rs1592224349
NM_000020.3(ACVRL1):c.1131A>G (p.Ala377=) rs61734313
NM_000020.3(ACVRL1):c.1132C>T (p.Pro378Ser) rs959973779
NM_000020.3(ACVRL1):c.1427C>G (p.Pro476Arg)
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.830C>G (p.Thr277Arg)
NM_000020.3(ACVRL1):c.9G>A (p.Leu3=) rs779236098
NM_000021.3(PSEN1):c.-296C>T rs1800839
NM_000022.2(ADA):c.986C>T rs121908715
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.221G>T (p.Gly74Val) rs199422328
NM_000022.4(ADA):c.226C>T (p.Arg76Trp) rs121908736
NM_000022.4(ADA):c.301C>T (p.Arg101Trp) rs121908717
NM_000022.4(ADA):c.320T>C (p.Leu107Pro) rs121908739
NM_000022.4(ADA):c.375C>G (p.Thr125=) rs766539394
NM_000022.4(ADA):c.384G>A (p.Glu128=) rs572092463
NM_000022.4(ADA):c.396dup (p.Val133fs) rs1555844617
NM_000022.4(ADA):c.425G>A (p.Arg142Gln) rs61732239
NM_000022.4(ADA):c.43C>G (p.His15Asp) rs121908725
NM_000022.4(ADA):c.454C>A (p.Leu152Met) rs121908728
NM_000022.4(ADA):c.466C>T (p.Arg156Cys) rs121908735
NM_000022.4(ADA):c.467G>A (p.Arg156His) rs121908722
NM_000022.4(ADA):c.479-9C>T rs761848284
NM_000022.4(ADA):c.529G>A (p.Val177Met) rs121908719
NM_000022.4(ADA):c.532del (p.Val177_Val178insTer) rs886041796
NM_000022.4(ADA):c.58G>A (p.Gly20Arg) rs121908724
NM_000022.4(ADA):c.591T>A (p.His197Gln) rs142456343
NM_000022.4(ADA):c.606+10G>A rs201045221
NM_000022.4(ADA):c.631C>T (p.Arg211Cys) rs121908740
NM_000022.4(ADA):c.632G>A (p.Arg211His) rs121908716
NM_000022.4(ADA):c.642C>T (p.His214=) rs562055008
NM_000022.4(ADA):c.643G>A (p.Ala215Thr) rs114025668
NM_000022.4(ADA):c.698C>T (p.Thr233Ile) rs121908729
NM_000022.4(ADA):c.703C>T (p.Arg235Trp) rs778809577
NM_000022.4(ADA):c.704G>A (p.Arg235Gln) rs79281338
NM_000022.4(ADA):c.714C>T (p.His238=) rs577317154
NM_000022.4(ADA):c.716G>A (p.Gly239Asp) rs1312320956
NM_000022.4(ADA):c.821C>T (p.Pro274Leu) rs121908738
NM_000022.4(ADA):c.822G>A (p.Pro274=) rs562095440
NM_000022.4(ADA):c.845G>A (p.Arg282Gln) rs751635016
NM_000022.4(ADA):c.864T>G (p.Ala288=) rs146614184
NM_000022.4(ADA):c.872C>T (p.Ser291Leu) rs121908721
NM_000022.4(ADA):c.890C>A (p.Pro297Gln) rs121908718
NM_000022.4(ADA):c.911T>G (p.Leu304Arg) rs199422327
NM_000022.4(ADA):c.927G>A (p.Gln309=) rs139871719
NM_000022.4(ADA):c.941A>G (p.Asp314Gly)
NM_000022.4(ADA):c.956_960del (p.Glu319fs) rs771266745
NM_000022.4(ADA):c.975+8G>A rs192148185
NM_000023.4(SGCA):c.220C>T (p.Arg74Trp) rs757888349
NM_000023.4(SGCA):c.292C>T (p.Arg98Cys) rs138945081
NM_000023.4(SGCA):c.293G>A (p.Arg98His) rs137852621
NM_000023.4(SGCA):c.308T>C (p.Ile103Thr) rs1161291343
NM_000023.4(SGCA):c.320C>T (p.Ala107Val) rs186669379
NM_000023.4(SGCA):c.37+10G>T rs200626376
NM_000023.4(SGCA):c.371T>C (p.Ile124Thr) rs768814872
NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter) rs780264754
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys) rs372210292
NM_000023.4(SGCA):c.409G>C (p.Glu137Gln) rs372210292
NM_000023.4(SGCA):c.421C>A (p.Arg141Ser) rs35130237
NM_000023.4(SGCA):c.464del (p.Ser155fs) rs1555568775
NM_000023.4(SGCA):c.522C>T (p.Asn174=) rs148960833
NM_000023.4(SGCA):c.591C>T (p.Tyr197=) rs756137267
NM_000023.4(SGCA):c.662G>A (p.Arg221His) rs138254713
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936
NM_000023.4(SGCA):c.764C>T (p.Pro255Leu) rs138019537
NM_000023.4(SGCA):c.80C>T (p.Thr27Met) rs565069721
NM_000023.4(SGCA):c.843C>A (p.Ala281=) rs149487996
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys) rs137852623
NM_000023.4(SGCA):c.90A>G (p.Pro30=) rs754840688
NM_000023.4(SGCA):c.929_930del (p.Tyr310fs) rs1555569329
NM_000023.4(SGCA):c.92T>C (p.Leu31Pro) rs903823830
NM_000024.5(ADRB2):c.46A>G (p.Arg16Gly) rs1042713
NM_000026.4(ADSL):c.1027G>A (p.Glu343Lys) rs774159147
NM_000026.4(ADSL):c.1187G>A (p.Arg396His) rs763542069
NM_000026.4(ADSL):c.1291G>A (p.Ala431Thr) rs200814886
NM_000026.4(ADSL):c.1342T>C (p.Ser448Pro) rs771121666
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.569G>A (p.Arg190Gln) rs28941471
NM_000026.4(ADSL):c.579G>C (p.Leu193=) rs751928831
NM_000026.4(ADSL):c.736A>G (p.Lys246Glu) rs119450944
NM_000026.4(ADSL):c.763C>T (p.Leu255=) rs771049726
NM_000027.4(AGA):c.1023A>G (p.Glu341=) rs113407270
NM_000027.4(AGA):c.200_201del (p.Glu67fs) rs386833420
NM_000027.4(AGA):c.24T>C (p.Pro8=) rs34413111
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.319C>T (p.Arg107Ter) rs765070743
NM_000027.4(AGA):c.346C>T (p.Arg116Trp) rs386833423
NM_000027.4(AGA):c.436T>G (p.Leu146Val) rs146381591
NM_000027.4(AGA):c.473G>A (p.Trp158Ter) rs745976989
NM_000027.4(AGA):c.488G>C (p.Cys163Ser) rs121964904
NM_000027.4(AGA):c.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.677G>A (p.Gly226Asp) rs386833431
NM_000027.4(AGA):c.762C>T (p.Ala254=) rs145465919
NM_000027.4(AGA):c.800dup (p.Pro268fs) rs386833436
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.941-5C>T rs377622082
NM_000027.4(AGA):c.965C>T (p.Thr322Ile) rs56849061
NM_000029.4(AGT):c.151T>C (p.Cys51Arg) rs61731497
NM_000030.3(AGXT):c.1111G>A (p.Glu371Lys) rs369664123
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr) rs140992177
NM_000030.3(AGXT):c.866G>A (p.Arg289His) rs61729604
NM_000031.6(ALAD):c.36C>G (p.Phe12Leu) rs121912984
NM_000032.5(ALAS2):c.1559C>T (p.Pro520Leu) rs201062903
NM_000032.5(ALAS2):c.1560C>A (p.Pro520=) rs150055592
NM_000032.5(ALAS2):c.1676G>A (p.Arg559His) rs145704441
NM_000032.5(ALAS2):c.828C>T (p.Cys276=) rs73214617
NM_000033.4(ABCD1):c.1165C>G (p.Arg389Gly) rs128624215
NM_000033.4(ABCD1):c.1165C>T (p.Arg389Cys) rs128624215
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His) rs886044777
NM_000033.4(ABCD1):c.1172T>C (p.Leu391Pro)
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter) rs128624221
NM_000033.4(ABCD1):c.1489-6del rs398123101
NM_000033.4(ABCD1):c.1568T>C (p.Leu523Pro)
NM_000033.4(ABCD1):c.1582G>A (p.Gly528Ser) rs376472029
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln) rs781862879
NM_000033.4(ABCD1):c.1780+4G>A rs193922095
NM_000033.4(ABCD1):c.1820_1823del (p.Gly607fs) rs1557055253
NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys) rs4010613
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.249C>T (p.Phe83=) rs782628755
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg) rs782161942
NM_000033.4(ABCD1):c.521A>C (p.Tyr174Ser) rs1557052390
NM_000033.4(ABCD1):c.593C>T (p.Thr198Met) rs1569540704
NM_000033.4(ABCD1):c.615G>A (p.Ala205=) rs782601474
NM_000033.4(ABCD1):c.685C>G (p.Leu229Val)
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.757C>G (p.Leu253Val) rs150151955
NM_000033.4(ABCD1):c.761C>T (p.Thr254Met) rs1131691743
NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp) rs782083931
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys) rs193922098
NM_000033.4(ABCD1):c.839G>C (p.Arg280Pro)
NM_000033.4(ABCD1):c.880G>A (p.Ala294Thr) rs1131691954
NM_000033.4(ABCD1):c.892G>A (p.Gly298Ser) rs1603232243
NM_000033.4(ABCD1):c.901-5C>T rs782603062
NM_000033.4(ABCD1):c.945G>A (p.Ser315=) rs145545199
NM_000035.4(ALDOB):c.-11+1G>C rs181639417
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val) rs77718928
NM_000035.4(ALDOB):c.10C>T (p.Arg4Ter) rs118204428
NM_000035.4(ALDOB):c.113-1_115del rs786204598
NM_000035.4(ALDOB):c.178C>A (p.Arg60=) rs118204429
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter) rs118204429
NM_000035.4(ALDOB):c.243C>T (p.His81=) rs182003715
NM_000035.4(ALDOB):c.264C>A (p.Asp88Glu) rs200585150
NM_000035.4(ALDOB):c.282C>T (p.Phe94=) rs549682194
NM_000035.4(ALDOB):c.2T>C (p.Met1Thr)
NM_000035.4(ALDOB):c.324+1G>A rs764826805
NM_000035.4(ALDOB):c.324G>A (p.Lys108=) rs750026492
NM_000035.4(ALDOB):c.331C>T (p.Gln111Ter)
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs) rs387906225
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.582T>C (p.Asp194=) rs141988626
NM_000035.4(ALDOB):c.612T>A (p.Tyr204Ter) rs370793608
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.865del (p.Leu289fs) rs864309533
NM_000035.4(ALDOB):c.906T>C (p.Tyr302=) rs138866018
NM_000036.2(AMPD1):c.1029G>T (p.Met343Ile) rs61752478
NM_000036.2(AMPD1):c.1261C>T (p.Arg421Trp) rs35859650
NM_000036.2(AMPD1):c.133C>T (p.Gln45Ter) rs17602729
NM_000036.2(AMPD1):c.433G>A (p.Val145Met) rs61741025
NM_000036.2(AMPD1):c.480+1G>C rs143303736
NM_000036.2(AMPD1):c.567G>T (p.Gln189His) rs139582106
NM_000037.4(ANK1):c.1203C>T (p.Thr401=) rs145628190
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.2167C>A (p.His723Asn) rs150899388
NM_000037.4(ANK1):c.2196+6G>A rs200761553
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.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.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.4022C>T (p.Ser1341Leu) rs145562489
NM_000037.4(ANK1):c.4341T>C (p.Ser1447=) rs112677283
NM_000037.4(ANK1):c.447G>T (p.Ala149=) rs140550365
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.5376C>T (p.Thr1792=) rs147232364
NM_000037.4(ANK1):c.5601G>A (p.Ala1867=) rs150975400
NM_000037.4(ANK1):c.675C>T (p.Leu225=) rs146507999
NM_000037.4(ANK1):c.876G>A (p.Leu292=) rs373060967
NM_000038.6(APC):c.1139G>A (p.Arg380Gln) rs587782886
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+3A>G rs863225311
NM_000038.6(APC):c.1419G>A (p.Gln473=) rs141579422
NM_000038.6(APC):c.1530dup (p.Gly511fs) rs1554081749
NM_000038.6(APC):c.1557A>G (p.Leu519=) rs765537673
NM_000038.6(APC):c.1589T>C (p.Val530Ala) rs202199891
NM_000038.6(APC):c.1604C>T (p.Ser535Phe) rs75870842
NM_000038.6(APC):c.1606G>A (p.Glu536Lys) rs138098808
NM_000038.6(APC):c.1631T>C (p.Ile544Thr) rs144056494
NM_000038.6(APC):c.1705del (p.Ser568_Val569insTer) rs1554082135
NM_000038.6(APC):c.1825G>A (p.Val609Ile) rs147863331
NM_000038.6(APC):c.1958+10G>T rs375175370
NM_000038.6(APC):c.1959G>A (p.Arg653=) rs72541809
NM_000038.6(APC):c.1984C>A (p.Leu662Ile) rs756859993
NM_000038.6(APC):c.2090C>T (p.Ala697Val) rs761733547
NM_000038.6(APC):c.2204C>T (p.Ala735Val) rs147655929
NM_000038.6(APC):c.2262T>G (p.Val754=) rs148987776
NM_000038.6(APC):c.2322C>T (p.Asp774=) rs145792879
NM_000038.6(APC):c.2444A>C (p.Asn815Thr) rs762990578
NM_000038.6(APC):c.2586C>G (p.Asn862Lys) rs147972247
NM_000038.6(APC):c.2593C>T (p.Pro865Ser) rs192620988
NM_000038.6(APC):c.2627G>A (p.Arg876Gln) rs373428732
NM_000038.6(APC):c.277C>G (p.Leu93Val) rs201567345
NM_000038.6(APC):c.2804dup (p.Tyr935Ter) rs863225332
NM_000038.6(APC):c.2805C>T (p.Tyr935=) rs137854575
NM_000038.6(APC):c.2847G>T (p.Met949Ile) rs147394539
NM_000038.6(APC):c.2948T>C (p.Ile983Thr) rs113674464
NM_000038.6(APC):c.295C>T (p.Arg99Trp) rs139196838
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly) rs148725540
NM_000038.6(APC):c.317G>A (p.Arg106His) rs201764637
NM_000038.6(APC):c.3210T>C (p.Asn1070=) rs886059794
NM_000038.6(APC):c.3374T>C (p.Val1125Ala) rs377278397
NM_000038.6(APC):c.3378C>G (p.Ser1126Arg) rs149353082
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser) rs143638171
NM_000038.6(APC):c.3462AGA[2] (p.Glu1157del) rs386833391
NM_000038.6(APC):c.3479C>A (p.Thr1160Lys) rs201004111
NM_000038.6(APC):c.3511C>T (p.Arg1171Cys) rs201830995
NM_000038.6(APC):c.3529A>G (p.Ile1177Val) rs369834416
NM_000038.6(APC):c.3625G>A (p.Glu1209Lys) rs201185479
NM_000038.6(APC):c.3632T>G (p.Met1211Arg) rs575268622
NM_000038.6(APC):c.3650A>C (p.Asn1217Thr) rs138933660
NM_000038.6(APC):c.3785dup (p.Tyr1262Ter) rs863225345
NM_000038.6(APC):c.385G>C (p.Glu129Gln) rs376628500
NM_000038.6(APC):c.3875C>T (p.Thr1292Met) rs371113837
NM_000038.6(APC):c.388A>G (p.Ser130Gly) rs150973053
NM_000038.6(APC):c.3910A>G (p.Ile1304Val) rs770157475
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs) rs121913224
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166
NM_000038.6(APC):c.4055T>C (p.Val1352Ala) rs528724202
NM_000038.6(APC):c.4072G>A (p.Ala1358Thr) rs139618756
NM_000038.6(APC):c.4237A>G (p.Met1413Val) rs141519952
NM_000038.6(APC):c.4336G>A (p.Ala1446Thr) rs146572883
NM_000038.6(APC):c.4372C>T (p.Pro1458Ser) rs143796828
NM_000038.6(APC):c.4395T>A (p.Ser1465Arg) rs779898882
NM_000038.6(APC):c.4765C>G (p.Arg1589Gly) rs72541813
NM_000038.6(APC):c.476dup (p.Tyr159Ter) rs878853451
NM_000038.6(APC):c.4905G>A (p.Gly1635=) rs137988845
NM_000038.6(APC):c.4919G>A (p.Arg1640Gln) rs529480958
NM_000038.6(APC):c.5009C>T (p.Ala1670Val) rs202228932
NM_000038.6(APC):c.5026A>G (p.Arg1676Gly) rs370560998
NM_000038.6(APC):c.5140G>A (p.Asp1714Asn) rs148275069
NM_000038.6(APC):c.5147A>G (p.Asn1716Ser) rs141298709
NM_000038.6(APC):c.5250C>T (p.Val1750=) rs2229997
NM_000038.6(APC):c.5274T>A (p.Ser1758=) rs199600387
NM_000038.6(APC):c.531+1G>A
NM_000038.6(APC):c.531+1G>C rs876659973
NM_000038.6(APC):c.5363G>A (p.Arg1788His) rs201472075
NM_000038.6(APC):c.5528C>T (p.Pro1843Leu) rs368080169
NM_000038.6(APC):c.5635G>T (p.Ala1879Ser) rs587779799
NM_000038.6(APC):c.564A>G (p.Gln188=) rs377493489
NM_000038.6(APC):c.5659_5663del (p.Asn1887fs) rs1554086854
NM_000038.6(APC):c.5690A>C (p.His1897Pro) rs112610898
NM_000038.6(APC):c.5752A>G (p.Ile1918Val) rs776966222
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu) rs587780600
NM_000038.6(APC):c.5912C>G (p.Ser1971Cys) rs754691867
NM_000038.6(APC):c.5952_5955del (p.Glu1985fs) rs1057517544
NM_000038.6(APC):c.607C>G (p.Gln203Glu) rs141576417
NM_000038.6(APC):c.6354TGC[5] (p.Ala2122dup) rs587780602
NM_000038.6(APC):c.6371T>A (p.Leu2124Ter) rs1057517568
NM_000038.6(APC):c.6473C>G (p.Pro2158Arg) rs587779804
NM_000038.6(APC):c.6492C>T (p.Gly2164=) rs765332758
NM_000038.6(APC):c.6510A>C (p.Pro2170=) rs138571760
NM_000038.6(APC):c.6609T>C (p.Val2203=) rs149328018
NM_000038.6(APC):c.6624A>G (p.Glu2208=) rs886059798
NM_000038.6(APC):c.6639G>A (p.Met2213Ile) rs35540155
NM_000038.6(APC):c.6669A>G (p.Ser2223=) rs372680843
NM_000038.6(APC):c.6679G>T (p.Gly2227Cys) rs367905430
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly) rs201375478
NM_000038.6(APC):c.6821C>T (p.Ala2274Val) rs34919187
NM_000038.6(APC):c.6857C>T (p.Ala2286Val) rs200587641
NM_000038.6(APC):c.6873A>T (p.Gln2291His) rs148878262
NM_000038.6(APC):c.6907G>A (p.Gly2303Arg) rs544549596
NM_000038.6(APC):c.6965A>G (p.Gln2322Arg) rs1057517549
NM_000038.6(APC):c.7036C>T (p.Pro2346Ser) rs200756935
NM_000038.6(APC):c.70C>T (p.Arg24Ter) rs145945630
NM_000038.6(APC):c.7193C>T (p.Ser2398Phe) rs150882838
NM_000038.6(APC):c.730-3C>T rs786203125
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr) rs372305287
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.7514G>A (p.Arg2505Gln) rs147549623
NM_000038.6(APC):c.7543A>G (p.Ile2515Val) rs554356011
NM_000038.6(APC):c.7574G>A (p.Arg2525His) rs762034315
NM_000038.6(APC):c.7625A>G (p.Asn2542Ser) rs151163793
NM_000038.6(APC):c.7717A>G (p.Ile2573Val) rs145444830
NM_000038.6(APC):c.7778A>G (p.Asn2593Ser) rs367676584
NM_000038.6(APC):c.7786T>G (p.Ser2596Ala) rs138137162
NM_000038.6(APC):c.7821C>T (p.Ser2607=) rs532235331
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys) rs72541816
NM_000038.6(APC):c.7888G>A (p.Val2630Ile) rs199688874
NM_000038.6(APC):c.7929A>G (p.Leu2643=) rs138796072
NM_000038.6(APC):c.8107A>G (p.Lys2703Glu) rs730881270
NM_000038.6(APC):c.8261G>A (p.Ser2754Asn) rs369721828
NM_000038.6(APC):c.8266A>G (p.Ile2756Val) rs146115809
NM_000038.6(APC):c.8332G>T (p.Ala2778Ser) rs587778046
NM_000038.6(APC):c.835-3T>C rs372090940
NM_000038.6(APC):c.8383G>A (p.Ala2795Thr) rs369264968
NM_000038.6(APC):c.8389A>G (p.Ser2797Gly) rs147287751
NM_000038.6(APC):c.848G>A (p.Arg283Gln) rs149154604
NM_000040.3(APOC3):c.55C>T (p.Arg19Ter) rs76353203
NM_000041.4(APOE):c.137T>C (p.Leu46Pro) rs769452
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.651+1G>A rs1564696849
NM_000043.6(FAS):c.695A>G (p.Tyr232Cys) rs121913079
NM_000043.6(FAS):c.749G>C (p.Arg250Pro) rs121913080
NM_000043.6(FAS):c.867A>C (p.Glu289Asp) rs377337130
NM_000044.6(AR):c.1370GCG[15] (p.Gly472_Gly473del) rs746853821
NM_000044.6(AR):c.171GCA[31] (p.Gln73_Gln80dup) rs3032358
NM_000044.6(AR):c.2659A>G (p.Met887Val) rs755226547
NM_000045.4(ARG1):c.129del (p.Glu44fs) rs1169538148
NM_000045.4(ARG1):c.295G>A (p.Gly99Arg) rs753829097
NM_000045.4(ARG1):c.2T>C (p.Met1Thr) rs1554249332
NM_000045.4(ARG1):c.372dup (p.Ala125fs) rs776939220
NM_000045.4(ARG1):c.434T>A (p.Val145Glu)
NM_000045.4(ARG1):c.703G>A (p.Gly235Arg) rs104893948
NM_000045.4(ARG1):c.75A>G (p.Glu25=) rs755973004
NM_000045.4(ARG1):c.80G>A (p.Gly27Asp) rs1326930389
NM_000045.4(ARG1):c.871C>T (p.Arg291Ter) rs104893940
NM_000045.4(ARG1):c.892G>C (p.Ala298Pro) rs755359126
NM_000045.4(ARG1):c.912C>T (p.Phe304=) rs373480378
NM_000045.4(ARG1):c.923G>A (p.Arg308Gln) rs377280518
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.1086G>A (p.Arg362=) rs144879531
NM_000046.5(ARSB):c.1130G>A (p.Trp377Ter) rs1554079265
NM_000046.5(ARSB):c.1178A>C (p.His393Pro) rs118203944
NM_000046.5(ARSB):c.1197C>G (p.Phe399Leu) rs200793396
NM_000046.5(ARSB):c.1213+6T>C rs1554074118
NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr) rs118203941
NM_000046.5(ARSB):c.1224C>T (p.Asn408=)
NM_000046.5(ARSB):c.1337-3T>A rs183651028
NM_000046.5(ARSB):c.1340G>T (p.Cys447Phe) rs1465993279
NM_000046.5(ARSB):c.1350G>C (p.Trp450Cys) rs555785323
NM_000046.5(ARSB):c.1373A>G (p.Asn458Ser) rs144222167
NM_000046.5(ARSB):c.215T>G (p.Leu72Arg) rs397514441
NM_000046.5(ARSB):c.245T>G (p.Leu82Arg) rs749465732
NM_000046.5(ARSB):c.317G>A (p.Arg106His) rs150087888
NM_000046.5(ARSB):c.430G>A (p.Gly144Arg) rs746206847
NM_000046.5(ARSB):c.438G>A (p.Trp146Ter) rs757061042
NM_000046.5(ARSB):c.479G>A (p.Arg160Gln) rs1196325597
NM_000046.5(ARSB):c.570A>G (p.Thr190=) rs148138805
NM_000046.5(ARSB):c.574T>C (p.Cys192Arg) rs1554087423
NM_000046.5(ARSB):c.707T>C (p.Leu236Pro) rs118203940
NM_000046.5(ARSB):c.723G>A (p.Val241=) rs199858121
NM_000046.5(ARSB):c.729G>A (p.Glu243=) rs144029271
NM_000046.5(ARSB):c.797A>C (p.Tyr266Ser) rs1554086402
NM_000046.5(ARSB):c.82C>T (p.Leu28=) rs138587718
NM_000046.5(ARSB):c.88C>T (p.Leu30=) rs766870239
NM_000046.5(ARSB):c.937C>G (p.Pro313Ala) rs749989641
NM_000046.5(ARSB):c.944G>A (p.Arg315Gln) rs727503809
NM_000047.2(ARSL):c.1189G>A (p.Gly397Arg) rs201424543
NM_000047.2(ARSL):c.1694T>G (p.Ile565Ser) rs142375403
NM_000047.2(ARSL):c.410G>C (p.Gly137Ala) rs80338711
NM_000047.2(ARSL):c.715G>A (p.Ala239Thr) rs144630754
NM_000048.4(ASL):c.1045_1057del (p.Val349fs) rs796051933
NM_000048.4(ASL):c.1047C>G (p.Val349=)
NM_000048.4(ASL):c.1056G>A (p.Thr352=) rs745476328
NM_000048.4(ASL):c.1063-8G>A rs548397162
NM_000048.4(ASL):c.1124A>G (p.Tyr375Cys) rs886062406
NM_000048.4(ASL):c.1135C>T (p.Arg379Cys) rs28940287
NM_000048.4(ASL):c.1153C>T (p.Arg385Cys) rs28940286
NM_000048.4(ASL):c.1154G>A (p.Arg385His) rs746120802
NM_000048.4(ASL):c.1255_1256del (p.Leu419fs) rs757109353
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.175G>A (p.Glu59Lys) rs869312985
NM_000048.4(ASL):c.243G>C (p.Leu81=) rs774204716
NM_000048.4(ASL):c.280C>T (p.Arg94Cys) rs374304304
NM_000048.4(ASL):c.292G>T (p.Glu98Ter) rs770375565
NM_000048.4(ASL):c.299T>C (p.Ile100Thr) rs202142867
NM_000048.4(ASL):c.337C>T (p.Arg113Trp) rs767543051
NM_000048.4(ASL):c.35G>A (p.Arg12Gln) rs145138923
NM_000048.4(ASL):c.377G>A (p.Arg126Gln) rs777235530
NM_000048.4(ASL):c.392C>T (p.Thr131Met) rs143793815
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.402C>A (p.Gly134=)
NM_000048.4(ASL):c.437G>A (p.Arg146Gln) rs796051931
NM_000048.4(ASL):c.446+2T>C rs1268519003
NM_000048.4(ASL):c.474C>T (p.Tyr158=)
NM_000048.4(ASL):c.545G>A (p.Arg182Gln) rs751590073
NM_000048.4(ASL):c.571C>G (p.Arg191Gly) rs143508372
NM_000048.4(ASL):c.577C>T (p.Arg193Trp) rs1428029508
NM_000048.4(ASL):c.578G>A (p.Arg193Gln) rs373697663
NM_000048.4(ASL):c.602+1G>A rs398123127
NM_000048.4(ASL):c.631_647del (p.Val211fs) rs1554327181
NM_000048.4(ASL):c.655+8G>A rs200203985
NM_000048.4(ASL):c.656-5C>A rs201814807
NM_000048.4(ASL):c.707G>A (p.Arg236Gln) rs764602422
NM_000048.4(ASL):c.718+5G>A rs869312990
NM_000048.4(ASL):c.72C>T (p.Phe24=) rs760059034
NM_000048.4(ASL):c.75C>T (p.Asn25=) rs370260834
NM_000048.4(ASL):c.918+5G>A rs781331391
NM_000048.4(ASL):c.924C>T (p.Ala308=) rs747831550
NM_000048.4(ASL):c.973_976del (p.Leu325fs) rs763407938
NM_000049.3(ASPA):c.212G>A (p.Arg71His) rs104894553
NM_000049.3(ASPA):c.340G>T (p.Asp114Tyr) rs1446467099
NM_000049.3(ASPA):c.427A>G (p.Ile143Val) rs199565861
NM_000049.3(ASPA):c.432G>A (p.Lys144=) rs754087904
NM_000049.3(ASPA):c.47T>C (p.Ile16Thr) rs769653717
NM_000049.3(ASPA):c.503G>A (p.Arg168His) rs770706390
NM_000049.3(ASPA):c.541C>A (p.Pro181Thr) rs786204572
NM_000049.3(ASPA):c.693C>T (p.Tyr231=) rs12948217
NM_000049.3(ASPA):c.79G>A (p.Gly27Arg) rs766328537
NM_000049.3(ASPA):c.820G>A (p.Gly274Arg) rs761064915
NM_000049.3(ASPA):c.859G>A (p.Ala287Thr) rs774323189
NM_000049.3(ASPA):c.89T>C (p.Leu30Pro) rs1555538144
NM_000049.3(ASPA):c.906G>A (p.Thr302=) rs371394875
NM_000049.4(ASPA):c.162C>A (p.Asn54Lys)
NM_000049.4(ASPA):c.237-6T>C rs370219865
NM_000049.4(ASPA):c.502C>T (p.Arg168Cys) rs937670540
NM_000049.4(ASPA):c.634+1G>T rs753871454
NM_000049.4(ASPA):c.637A>G (p.Lys213Glu) rs528179434
NM_000049.4(ASPA):c.723T>C (p.Ala241=)
NM_000049.4(ASPA):c.78C>T (p.Thr26=) rs145616193
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala) rs28940279
NM_000049.4(ASPA):c.876_879del (p.Glu293fs) rs766720790
NM_000050.4(ASS1):c.323G>T rs35269064
NM_000051.3(ATM):c.1003G>T (p.Gly335Ter) rs1555068471
NM_000051.3(ATM):c.1027_1030delGAAA rs587780612
NM_000051.3(ATM):c.1093G>T (p.Glu365Ter) rs1555069577
NM_000051.3(ATM):c.1120C>T (p.Gln374Ter) rs1185204988
NM_000051.3(ATM):c.1229T>C (p.Val410Ala) rs56128736
NM_000051.3(ATM):c.1235+1G>A rs1555069881
NM_000051.3(ATM):c.1235+3A>G rs1417190414
NM_000051.3(ATM):c.1237C>T (p.Leu413=) rs1565381686
NM_000051.3(ATM):c.1240C>T (p.Gln414Ter) rs866521873
NM_000051.3(ATM):c.1243A>T (p.Ile415Phe) rs1591522756
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.1305del (p.Leu435fs) rs1555070719
NM_000051.3(ATM):c.1339C>T (p.Arg447Ter) rs587779815
NM_000051.3(ATM):c.1351C>T (p.Arg451Cys) rs201719927
NM_000051.3(ATM):c.1355del (p.Thr452fs) rs587781776
NM_000051.3(ATM):c.1442T>G (p.Leu481Ter) rs1555070980
NM_000051.3(ATM):c.1524del (p.Gly509fs) rs786204737
NM_000051.3(ATM):c.1541G>A (p.Gly514Asp) rs2235000
NM_000051.3(ATM):c.157A>T (p.Lys53Ter) rs876659078
NM_000051.3(ATM):c.1607+1G>T rs772926890
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.1655del (p.Pro552fs) rs1057516876
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.1753_1756del (p.Leu585fs) rs1555072008
NM_000051.3(ATM):c.1754dup (p.Leu585fs) rs1555072012
NM_000051.3(ATM):c.186-7C>T rs55674039
NM_000051.3(ATM):c.1905C>T (p.His635=) rs1020808836
NM_000051.3(ATM):c.192del (p.Leu64fs) rs878853490
NM_000051.3(ATM):c.1931C>A (p.Ser644Ter) rs768362387
NM_000051.3(ATM):c.1986T>C (p.Phe662=) rs1800055
NM_000051.3(ATM):c.1A>C (p.Met1Leu) rs730881359
NM_000051.3(ATM):c.1A>G (p.Met1Val) rs730881359
NM_000051.3(ATM):c.2023C>T (p.Gln675Ter) rs777849257
NM_000051.3(ATM):c.2096A>G (p.Glu699Gly) rs147934285
NM_000051.3(ATM):c.2119T>C (p.Ser707Pro) rs4986761
NM_000051.3(ATM):c.2125del (p.Ile709fs) rs1057517248
NM_000051.3(ATM):c.2127T>C (p.Ile709=) rs56252953
NM_000051.3(ATM):c.2192dup (p.Tyr731Ter) rs1478081526
NM_000051.3(ATM):c.2220A>G (p.Ala740=) rs56353517
NM_000051.3(ATM):c.2251-10T>G rs730881346
NM_000051.3(ATM):c.2281A>T (p.Thr761Ser) rs2235011
NM_000051.3(ATM):c.2295del (p.Asn765fs) rs876658583
NM_000051.3(ATM):c.2362A>C (p.Ser788Arg) rs641252
NM_000051.3(ATM):c.2377_2378dup (p.Ser794fs) rs1057516980
NM_000051.3(ATM):c.237del (p.Lys79fs) rs730881303
NM_000051.3(ATM):c.2449G>C (p.Asp817His) rs587778067
NM_000051.3(ATM):c.2455T>C (p.Cys819Arg) rs775644968
NM_000051.3(ATM):c.2572T>C (p.Phe858Leu) rs1800056
NM_000051.3(ATM):c.2608A>G (p.Asn870Asp) rs61734354
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.2789T>G (p.Leu930Ter) rs786203309
NM_000051.3(ATM):c.2804C>T (p.Thr935Met) rs3218708
NM_000051.3(ATM):c.2805G>C (p.Thr935=) rs55934812
NM_000051.3(ATM):c.2839-10A>G rs770032309
NM_000051.3(ATM):c.2839-3_2839delinsGATACTA rs786202148
NM_000051.3(ATM):c.2839-579_2839-576del rs587776552
NM_000051.3(ATM):c.2880del (p.Leu961fs) rs730881300
NM_000051.3(ATM):c.2921+1G>A rs587781558
NM_000051.3(ATM):c.2921+1G>C rs587781558
NM_000051.3(ATM):c.2921+2dup rs1565424654
NM_000051.3(ATM):c.2T>C (p.Met1Thr) rs786203606
NM_000051.3(ATM):c.3014A>G (p.Asn1005Ser) rs146531614
NM_000051.3(ATM):c.3024dup (p.Glu1009Ter) rs1555085172
NM_000051.3(ATM):c.3049C>T (p.Gln1017Ter) rs730881388
NM_000051.3(ATM):c.3077+4G>A rs201222237
NM_000051.3(ATM):c.3078-1G>A rs750663117
NM_000051.3(ATM):c.3150T>C (p.Leu1050=) rs3092859
NM_000051.3(ATM):c.3154-4G>A rs199543313
NM_000051.3(ATM):c.3161C>G (p.Pro1054Arg) rs1800057
NM_000051.3(ATM):c.3231dup (p.Leu1078fs) rs1057517097
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.331+1G>A rs1555055356
NM_000051.3(ATM):c.331+5G>A rs752135143
NM_000051.3(ATM):c.3315dup (p.Arg1106fs) rs1057516301
NM_000051.3(ATM):c.3342G>A (p.Lys1114=) rs138393322
NM_000051.3(ATM):c.3351_3354del (p.Thr1118fs) rs1057516446
NM_000051.3(ATM):c.3372C>G (p.Tyr1124Ter) rs587779833
NM_000051.3(ATM):c.3381_3384del (p.Gln1128fs) rs587781971
NM_000051.3(ATM):c.3383A>G (p.Gln1128Arg) rs2229020
NM_000051.3(ATM):c.3417G>A (p.Glu1139=) rs879254069
NM_000051.3(ATM):c.3541A>T (p.Lys1181Ter) rs1057516981
NM_000051.3(ATM):c.3577-7C>T rs558667657
NM_000051.3(ATM):c.3603del (p.Phe1201fs) rs1057517129
NM_000051.3(ATM):c.370A>G (p.Ile124Val) rs148590073
NM_000051.3(ATM):c.3747-10C>G rs775274473
NM_000051.3(ATM):c.3756T>A (p.Tyr1252Ter) rs886039637
NM_000051.3(ATM):c.378del (p.Asp126fs) rs587781449
NM_000051.3(ATM):c.3880dup (p.Ile1294fs) rs1057516541
NM_000051.3(ATM):c.3919G>A (p.Gly1307Arg) rs568451087
NM_000051.3(ATM):c.3935dup (p.Glu1313fs) rs876659672
NM_000051.3(ATM):c.3982T>C (p.Leu1328=) rs876658204
NM_000051.3(ATM):c.3G>A (p.Met1Ile) rs781404312
NM_000051.3(ATM):c.4019_4029del (p.Leu1340fs) rs1057517140
NM_000051.3(ATM):c.4066A>G (p.Asn1356Asp) rs147600485
NM_000051.3(ATM):c.4106C>A (p.Ser1369Ter) rs1057520640
NM_000051.3(ATM):c.4109+6T>C rs368606937
NM_000051.3(ATM):c.4111delG rs797045114
NM_000051.3(ATM):c.411C>T (p.Tyr137=) rs756160533
NM_000051.3(ATM):c.4148C>A (p.Ser1383Ter) rs141087784
NM_000051.3(ATM):c.4258C>T (p.Leu1420Phe) rs1800058
NM_000051.3(ATM):c.4318A>T (p.Lys1440Ter) rs1060501551
NM_000051.3(ATM):c.4324T>C (p.Tyr1442His) rs201666889
NM_000051.3(ATM):c.4365T>A (p.Ser1455Arg) rs527471560
NM_000051.3(ATM):c.4370T>G (p.Leu1457Ter) rs373226793
NM_000051.3(ATM):c.4394T>C (p.Leu1465Pro) rs730881391
NM_000051.3(ATM):c.4436+10A>G rs878853509
NM_000051.3(ATM):c.4437-7A>G rs370354306
NM_000051.3(ATM):c.4473C>T (p.Phe1491=) rs4988008
NM_000051.3(ATM):c.4588G>T (p.Glu1530Ter) rs864622479
NM_000051.3(ATM):c.4664del (p.Leu1555fs) rs876659039
NM_000051.3(ATM):c.4724G>A (p.Arg1575His) rs550552791
NM_000051.3(ATM):c.4732C>T (p.Gln1578Ter) rs746499337
NM_000051.3(ATM):c.4735C>T (p.Gln1579Ter) rs869312755
NM_000051.3(ATM):c.4741dup (p.Ile1581fs) rs864622164
NM_000051.3(ATM):c.4768C>T (p.Leu1590Phe) rs35962982
NM_000051.3(ATM):c.478_482del (p.Ser160fs) rs587780624
NM_000051.3(ATM):c.4871A>G (p.His1624Arg) rs56354559
NM_000051.3(ATM):c.4910-4C>T rs786202493
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.513C>G (p.Tyr171Ter) rs786201693
NM_000051.3(ATM):c.5177+5G>A rs759373136
NM_000051.3(ATM):c.5188C>T (p.Arg1730Ter) rs764389018
NM_000051.3(ATM):c.5228C>T (p.Thr1743Ile) rs587779844
NM_000051.3(ATM):c.5288_5289insGA (p.Tyr1763Ter) rs1555105786
NM_000051.3(ATM):c.5320-10T>C rs864622731
NM_000051.3(ATM):c.5320-5_5320-2del rs730881310
NM_000051.3(ATM):c.5351del (p.Asn1784fs) rs1057517101
NM_000051.3(ATM):c.5354C>A (p.Pro1785His) rs1555106368
NM_000051.3(ATM):c.5414G>A (p.Trp1805Ter) rs879254171
NM_000051.3(ATM):c.544G>C (p.Val182Leu) rs3218707
NM_000051.3(ATM):c.5460dup (p.Cys1821fs) rs1057516760
NM_000051.3(ATM):c.5497-2A>C rs786203796
NM_000051.3(ATM):c.5497-8T>C rs3092829
NM_000051.3(ATM):c.5515C>T (p.Gln1839Ter) rs786204751
NM_000051.3(ATM):c.5549del (p.Leu1850fs) rs876658287
NM_000051.3(ATM):c.5554C>T (p.Gln1852Ter) rs754562056
NM_000051.3(ATM):c.5558A>T (p.Asp1853Val) rs1801673
NM_000051.3(ATM):c.5573G>A (p.Trp1858Ter) rs879254076
NM_000051.3(ATM):c.5633C>T (p.Ser1878Leu) rs758908522
NM_000051.3(ATM):c.5644C>T (p.Arg1882Ter) rs786204433
NM_000051.3(ATM):c.5675-4T>A rs56075338
NM_000051.3(ATM):c.5712dup (p.Ser1905fs) rs587781730
NM_000051.3(ATM):c.5798G>A (p.Trp1933Ter) rs876658740
NM_000051.3(ATM):c.5825C>T (p.Ala1942Val) rs730881394
NM_000051.3(ATM):c.5890A>T (p.Lys1964Ter) rs201963507
NM_000051.3(ATM):c.5910del (p.Glu1971fs) rs587782198
NM_000051.3(ATM):c.6040G>T (p.Glu2014Ter) rs375783941
NM_000051.3(ATM):c.6088A>G (p.Ile2030Val) rs145847315
NM_000051.3(ATM):c.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.6154G>A (p.Glu2052Lys) rs202206540
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.6315G>C (p.Arg2105Ser) rs587780632
NM_000051.3(ATM):c.6318T>C (p.Asn2106=) rs864622730
NM_000051.3(ATM):c.6347+1G>A rs1057517120
NM_000051.3(ATM):c.6355G>T (p.Val2119Leu) rs1266938537
NM_000051.3(ATM):c.6382T>C (p.Leu2128=) rs753646931
NM_000051.3(ATM):c.6396A>G (p.Leu2132=) rs370537345
NM_000051.3(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer) rs587782554
NM_000051.3(ATM):c.640del (p.Ser214fs) rs786204543
NM_000051.3(ATM):c.6437G>C (p.Ser2146Thr) rs56815840
NM_000051.3(ATM):c.6452+5T>A rs533830556
NM_000051.3(ATM):c.6465G>A (p.Val2155=) rs140423883
NM_000051.3(ATM):c.6572+4T>C rs587780636
NM_000051.3(ATM):c.6586A>T (p.Arg2196Ter) rs1555119011
NM_000051.3(ATM):c.660G>A (p.Ala220=) rs763669136
NM_000051.3(ATM):c.664C>T (p.Gln222Ter) rs1555066917
NM_000051.3(ATM):c.6681C>T (p.Arg2227=) rs775850434
NM_000051.3(ATM):c.6850del (p.Val2284fs) rs876659569
NM_000051.3(ATM):c.6888A>T (p.Ala2296=) rs200735689
NM_000051.3(ATM):c.6898T>G (p.Trp2300Gly) rs1565520641
NM_000051.3(ATM):c.6919C>T (p.Leu2307Phe) rs56009889
NM_000051.3(ATM):c.6976-2A>C rs587782403
NM_000051.3(ATM):c.7044G>A (p.Thr2348=) rs140104789
NM_000051.3(ATM):c.7096G>T (p.Glu2366Ter) rs587781672
NM_000051.3(ATM):c.7166C>G (p.Ser2389Ter) rs1018140779
NM_000051.3(ATM):c.72+1G>A rs786204088
NM_000051.3(ATM):c.7271T>G (p.Val2424Gly) rs28904921
NM_000051.3(ATM):c.7327C>T (p.Arg2443Ter) rs121434220
NM_000051.3(ATM):c.735C>T (p.Val245=) rs3218674
NM_000051.3(ATM):c.7381C>T (p.Arg2461Cys) rs201314561
NM_000051.3(ATM):c.7390T>C (p.Cys2464Arg) rs55801750
NM_000051.3(ATM):c.7408T>G (p.Tyr2470Asp) rs876659365
NM_000051.3(ATM):c.742C>T (p.Arg248Ter) rs730881336
NM_000051.3(ATM):c.7475T>G (p.Leu2492Arg) rs56399857
NM_000051.3(ATM):c.7542T>C (p.Tyr2514=) rs777925486
NM_000051.3(ATM):c.7629+2T>C rs786203059
NM_000051.3(ATM):c.7629_7629+4del rs876660041
NM_000051.3(ATM):c.7630-2A>G rs587779866
NM_000051.3(ATM):c.7778A>G (p.Gln2593Arg) rs587779867
NM_000051.3(ATM):c.7788+8G>T rs112775908
NM_000051.3(ATM):c.7788G>A (p.Glu2596=) rs587780639
NM_000051.3(ATM):c.785T>A (p.Leu262Ter) rs864622163
NM_000051.3(ATM):c.7880del (p.Tyr2627fs) rs1057516599
NM_000051.3(ATM):c.7919C>T (p.Thr2640Ile) rs4988125
NM_000051.3(ATM):c.7927+5del rs786204437
NM_000051.3(ATM):c.7951C>T (p.Gln2651Ter) rs587781994
NM_000051.3(ATM):c.7985T>A (p.Val2662Asp) rs863224463
NM_000051.3(ATM):c.7988T>C (p.Val2663Ala) rs377648506
NM_000051.3(ATM):c.7998dup (p.Met2667fs) rs587779869
NM_000051.3(ATM):c.8011-6T>G rs762092284
NM_000051.3(ATM):c.802C>T (p.Gln268Ter) rs557012154
NM_000051.3(ATM):c.8098A>T (p.Lys2700Ter) rs758588019
NM_000051.3(ATM):c.8122G>A (p.Asp2708Asn) rs587782719
NM_000051.3(ATM):c.8147T>C (p.Val2716Ala) rs587782652
NM_000051.3(ATM):c.8152-1G>A rs1398616877
NM_000051.3(ATM):c.8185C>T (p.Gln2729Ter) rs587781967
NM_000051.3(ATM):c.8266A>T (p.Lys2756Ter) rs371638537
NM_000051.3(ATM):c.829G>T (p.Glu277Ter) rs876660933
NM_000051.3(ATM):c.8307G>A (p.Trp2769Ter) rs778269655
NM_000051.3(ATM):c.8391T>C (p.Ser2797=) rs566485657
NM_000051.3(ATM):c.8505C>A (p.Cys2835Ter) rs587781597
NM_000051.3(ATM):c.8518T>C (p.Leu2840=) rs794727769
NM_000051.3(ATM):c.8532T>C (p.Ile2844=) rs730881278
NM_000051.3(ATM):c.8549T>A (p.Leu2850Ter) rs876658716
NM_000051.3(ATM):c.8584+6C>G rs863224300
NM_000051.3(ATM):c.8592C>T (p.Tyr2864=) rs56025670
NM_000051.3(ATM):c.8671+9T>G rs200190537
NM_000051.3(ATM):c.8725A>T (p.Arg2909Ter) rs1555142845
NM_000051.3(ATM):c.875C>T (p.Pro292Leu) rs747727055
NM_000051.3(ATM):c.877A>T (p.Lys293Ter) rs1057516442
NM_000051.3(ATM):c.8786+1G>A rs17174393
NM_000051.3(ATM):c.8786+1G>T rs17174393
NM_000051.3(ATM):c.8786+8A>C rs4986839
NM_000051.3(ATM):c.8787-6C>T rs1591313765
NM_000051.3(ATM):c.8814_8824del (p.Met2938fs) rs758814126
NM_000051.3(ATM):c.8876_8879del (p.Asp2959fs) rs786204726
NM_000051.3(ATM):c.8911C>T (p.Gln2971Ter) rs1565607653
NM_000051.3(ATM):c.8921C>T (p.Pro2974Leu) rs139379666
NM_000051.3(ATM):c.8968G>A (p.Glu2990Lys) rs1800558
NM_000051.3(ATM):c.8987+3G>A rs56360226
NM_000051.3(ATM):c.8988-1G>A rs730881386
NM_000051.3(ATM):c.8998C>T (p.Gln3000Ter) rs587781698
NM_000051.3(ATM):c.900del (p.Gly301fs) rs1555067335
NM_000051.3(ATM):c.901+6A>C rs1555067357
NM_000051.3(ATM):c.9079dup (p.Ser3027fs) rs587780645
NM_000051.3(ATM):c.967A>G (p.Ile323Val) rs587781511
NM_000051.3(ATM):c.998C>T (p.Ser333Phe) rs28904919
NM_000051.4(ATM):c.1010G>A (p.Arg337His) rs202160435
NM_000051.4(ATM):c.1066-6T>G rs201686625
NM_000051.4(ATM):c.125A>G (p.His42Arg) rs201773026
NM_000051.4(ATM):c.1290_1291del (p.Cys430_Glu431delinsTer) rs587781598
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln) rs202173660
NM_000051.4(ATM):c.1464G>A (p.Trp488Ter) rs377597949
NM_000051.4(ATM):c.146C>G rs1800054
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr) rs35963548
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.2021A>G (p.His674Arg) rs201762714
NM_000051.4(ATM):c.2140del (p.Thr714fs)
NM_000051.4(ATM):c.2284_2285del (p.Leu762fs) rs587781658
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.3154-5C>T rs55719759
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr) rs142358238
NM_000051.4(ATM):c.334G>A (p.Ala112Thr) rs146382972
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770
NM_000051.4(ATM):c.3939_3940del (p.Glu1313fs) rs1555093684
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr) rs145119475
NM_000051.4(ATM):c.4098_4099del (p.Cys1366_Asp1367delinsTer) rs876658248
NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu) rs141087784
NM_000051.4(ATM):c.4358_4359del (p.Ile1453fs) rs1555097650
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406
NM_000051.4(ATM):c.4402G>A (p.Val1468Ile) rs369903995
NM_000051.4(ATM):c.4414T>G (p.Leu1472Val) rs539676759
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.4802G>A (p.Ser1601Asn) rs587782506
NM_000051.4(ATM):c.496+4T>C rs587781375
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059
NM_000051.4(ATM):c.5185G>C (p.Val1729Leu) rs3092907
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr) rs148064985
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.5882A>G (p.Tyr1961Cys) rs56399311
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.6095G>A (p.Arg2032Lys) rs139770721
NM_000051.4(ATM):c.6176C>T (p.Thr2059Ile) rs144761622
NM_000051.4(ATM):c.6503C>T (p.Ser2168Leu) rs200431631
NM_000051.4(ATM):c.6795C>T rs3218699
NM_000051.4(ATM):c.6820G>A (p.Ala2274Thr) rs567060474
NM_000051.4(ATM):c.6860G>C (p.Gly2287Ala) rs1800061
NM_000051.4(ATM):c.6975G>A (p.Ala2325=) rs556778314
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val) rs148432863
NM_000051.4(ATM):c.6997dup rs587781299
NM_000051.4(ATM):c.7000_7003del (p.Tyr2334fs) rs786203421
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser) rs370559102
NM_000051.4(ATM):c.7313C>T (p.Thr2438Ile) rs147604227
NM_000051.4(ATM):c.749G>A (p.Arg250Gln) rs56123940
NM_000051.4(ATM):c.756_757del (p.Cys252_Glu253delinsTer) rs876659003
NM_000051.4(ATM):c.7705_7706del (p.Arg2568_Asp2569insTer) rs759965045
NM_000051.4(ATM):c.7740A>C (p.Arg2580Ser) rs199915459
NM_000051.4(ATM):c.7789-3T>G rs864622185
NM_000051.4(ATM):c.7838_7839dup (p.Pro2614fs) rs730881293
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro) rs267606668
NM_000051.4(ATM):c.7913G>A (p.Trp2638Ter) rs377349459
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs) rs786202800
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys) rs587779872
NM_000051.4(ATM):c.8560C>T (p.Arg2854Cys) rs201958469
NM_000051.4(ATM):c.8575TCT[1] (p.Ser2860del) rs786203976
NM_000051.4(ATM):c.8584+2T>C rs730881326
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter) rs770641163
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys) rs587782292
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp) rs201199629
NM_000052.7(ATP7A):c.2499-7T>C rs782260332
NM_000052.7(ATP7A):c.4414C>T (p.Arg1472Cys) rs782062633
NM_000053.3(ATP7B):c.-436_-422del15 rs1484840087
NM_000053.3(ATP7B):c.-676A>G rs1021025464
NM_000053.4(ATP7B):c.*16G>A rs193922100
NM_000053.4(ATP7B):c.1002T>C (p.Ser334=)
NM_000053.4(ATP7B):c.1063C>T (p.Gln355Ter) rs778490238
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.1185C>T (p.Ala395=) rs764551529
NM_000053.4(ATP7B):c.1198A>G (p.Thr400Ala) rs199807461
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.1401T>G (p.Pro467=) rs529527733
NM_000053.4(ATP7B):c.1426G>A (p.Ala476Thr) rs139289704
NM_000053.4(ATP7B):c.1554C>T (p.Ser518=)
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.1686C>T (p.Ser562=) rs138962570
NM_000053.4(ATP7B):c.1687G>A (p.Asp563Asn)
NM_000053.4(ATP7B):c.1707+2dup rs781531824
NM_000053.4(ATP7B):c.1708-1G>C rs137853280
NM_000053.4(ATP7B):c.1708-5T>G rs770829226
NM_000053.4(ATP7B):c.1716del (p.Gly572_Met573insTer) rs1057516893
NM_000053.4(ATP7B):c.1728G>A (p.Ala576=) rs116703544
NM_000053.4(ATP7B):c.1745_1746del (p.Ile582fs) rs753962912
NM_000053.4(ATP7B):c.1772G>A (p.Gly591Asp) rs797045402
NM_000053.4(ATP7B):c.1830G>A (p.Pro610=) rs375689672
NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala) rs587783299
NM_000053.4(ATP7B):c.1878C>T (p.Gly626=) rs587783300
NM_000053.4(ATP7B):c.1922T>C (p.Leu641Ser) rs186924074
NM_000053.4(ATP7B):c.1924G>T (p.Asp642Tyr) rs72552285
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) rs121907998
NM_000053.4(ATP7B):c.1946+6T>C rs751287778
NM_000053.4(ATP7B):c.1947-4C>T rs74904335
NM_000053.4(ATP7B):c.1965G>A (p.Leu655=) rs574041847
NM_000053.4(ATP7B):c.1993A>G (p.Met665Val) rs146303208
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259
NM_000053.4(ATP7B):c.19_20del (p.Gln7fs) rs749363958
NM_000053.4(ATP7B):c.2029G>A (p.Glu677Lys)
NM_000053.4(ATP7B):c.2071G>A (p.Gly691Arg) rs121908001
NM_000053.4(ATP7B):c.2072G>T (p.Gly691Val) rs1555291801
NM_000053.4(ATP7B):c.2078C>G (p.Ser693Cys) rs1212479289
NM_000053.4(ATP7B):c.2121+3A>G rs1248002612
NM_000053.4(ATP7B):c.2124C>A (p.Leu708=) rs779988850
NM_000053.4(ATP7B):c.2129G>C (p.Gly710Ala) rs1555291285
NM_000053.4(ATP7B):c.2131G>A (p.Gly711Arg) rs1394999756
NM_000053.4(ATP7B):c.2131G>T (p.Gly711Trp) rs1394999756
NM_000053.4(ATP7B):c.2145C>T (p.Tyr715=) rs751202110
NM_000053.4(ATP7B):c.2157C>A (p.Tyr719Ter) rs1057516380
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.2227del (p.Tyr743fs)
NM_000053.4(ATP7B):c.2233_2234del (p.Leu745fs) rs1555291195
NM_000053.4(ATP7B):c.2241C>A (p.Ile747=)
NM_000053.4(ATP7B):c.2286A>T (p.Thr762=) rs750477816
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=) rs372979339
NM_000053.4(ATP7B):c.2294A>G (p.Asp765Gly) rs1555291147
NM_000053.4(ATP7B):c.2297C>T (p.Thr766Met) rs121907997
NM_000053.4(ATP7B):c.2300C>T (p.Pro767Leu) rs776668666
NM_000053.4(ATP7B):c.2301C>T (p.Pro767=) rs770787421
NM_000053.4(ATP7B):c.2303C>T (p.Pro768Leu) rs1057516844
NM_000053.4(ATP7B):c.2305A>G (p.Met769Val) rs193922103
NM_000053.4(ATP7B):c.2310C>G (p.Leu770=) rs398123136
NM_000053.4(ATP7B):c.2332C>G (p.Arg778Gly) rs137853284
NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu) rs28942074
NM_000053.4(ATP7B):c.2355+13T>G rs139211339
NM_000053.4(ATP7B):c.2355+4A>G rs776572343
NM_000053.4(ATP7B):c.2383C>T (p.Leu795Phe) rs751710854
NM_000053.4(ATP7B):c.2436T>C (p.Asn812=) rs533967323
NM_000053.4(ATP7B):c.2447+8A>G rs747586752
NM_000053.4(ATP7B):c.2447+8_2447+9insAA rs746283578
NM_000053.4(ATP7B):c.2475G>A (p.Val825=) rs373528664
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.2549C>T (p.Thr850Ile) rs777629392
NM_000053.4(ATP7B):c.2604C>T (p.Pro868=) rs368902724
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val) rs121907994
NM_000053.4(ATP7B):c.2662A>C (p.Thr888Pro) rs1455758826
NM_000053.4(ATP7B):c.2668G>A (p.Val890Met) rs786204718
NM_000053.4(ATP7B):c.2681C>T (p.Thr894Ile) rs1340729837
NM_000053.4(ATP7B):c.2712A>G (p.Glu904=)
NM_000053.4(ATP7B):c.2731-2A>G rs367956522
NM_000053.4(ATP7B):c.2752G>A (p.Asp918Asn) rs540935874
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.2804C>T (p.Thr935Met) rs750019452
NM_000053.4(ATP7B):c.2810del (p.Val937fs) rs1057516643
NM_000053.4(ATP7B):c.2826_2832del (p.Gly943fs) rs1555288385
NM_000053.4(ATP7B):c.2827G>A (p.Gly943Ser) rs28942076
NM_000053.4(ATP7B):c.2828G>A (p.Gly943Asp) rs779323689
NM_000053.4(ATP7B):c.2953T>C (p.Cys985Arg) rs193922104
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.2998G>A (p.Gly1000Arg) rs751078884
NM_000053.4(ATP7B):c.3006C>T (p.Ala1002=) rs369620062
NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr) rs201497300
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val) rs775055397
NM_000053.4(ATP7B):c.3036dup (p.Lys1013fs) rs1555287300
NM_000053.4(ATP7B):c.3053C>T (p.Ala1018Val) rs371840514
NM_000053.4(ATP7B):c.3061-12T>A rs1045194246
NM_000053.4(ATP7B):c.3069T>C (p.Thr1023=) rs187343742
NM_000053.4(ATP7B):c.3101A>G (p.His1034Arg) rs74085882
NM_000053.4(ATP7B):c.3104G>T (p.Gly1035Val) rs753594031
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.3123G>C (p.Arg1041=) rs1192564410
NM_000053.4(ATP7B):c.314C>A (p.Ser105Ter) rs753236073
NM_000053.4(ATP7B):c.3155C>T (p.Pro1052Leu) rs778543794
NM_000053.4(ATP7B):c.3160A>C (p.Arg1054=) rs377586515
NM_000053.4(ATP7B):c.3188C>T (p.Ala1063Val) rs587783309
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala) rs374094065
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln) rs76151636
NM_000053.4(ATP7B):c.3237T>A (p.Cys1079Ter)
NM_000053.4(ATP7B):c.3244-2A>G rs786204584
NM_000053.4(ATP7B):c.325C>T (p.Leu109=) rs751920801
NM_000053.4(ATP7B):c.3263T>A (p.Leu1088Ter) rs753250853
NM_000053.4(ATP7B):c.3301G>A (p.Gly1101Arg) rs786204483
NM_000053.4(ATP7B):c.3305T>C (p.Ile1102Thr) rs560952220
NM_000053.4(ATP7B):c.3316G>A (p.Val1106Ile) rs541208827
NM_000053.4(ATP7B):c.3324C>T (p.Asn1108=) rs372456815
NM_000053.4(ATP7B):c.3350_3353del (p.Glu1117fs) rs1555285830
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.3405A>G (p.Ala1135=) rs373081328
NM_000053.4(ATP7B):c.3422C>G (p.Pro1141Arg) rs757549770
NM_000053.4(ATP7B):c.3426G>C (p.Gln1142His) rs778749563
NM_000053.4(ATP7B):c.3449del (p.Asn1150fs) rs1555285380
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.3529C>T (p.Gln1177Ter) rs1057516479
NM_000053.4(ATP7B):c.3551T>C (p.Ile1184Thr)
NM_000053.4(ATP7B):c.3556+1G>A rs184388696
NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser) rs786204547
NM_000053.4(ATP7B):c.3557-6C>T rs140708492
NM_000053.4(ATP7B):c.3557-8C>T rs765668065
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.360C>T (p.Gly120=)
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg) rs7334118
NM_000053.4(ATP7B):c.3624G>T (p.Thr1208=) rs377267217
NM_000053.4(ATP7B):c.3625C>T (p.Leu1209=)
NM_000053.4(ATP7B):c.363C>T (p.Phe121=)
NM_000053.4(ATP7B):c.3646G>A (p.Val1216Met) rs776280797
NM_000053.4(ATP7B):c.3649_3654del (p.Val1217_Leu1218del) rs781266802
NM_000053.4(ATP7B):c.3659C>T (p.Thr1220Met) rs193922107
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val) rs200911496
NM_000053.4(ATP7B):c.3694A>C (p.Thr1232Pro) rs568009639
NM_000053.4(ATP7B):c.3741C>G (p.His1247Gln) rs767464491
NM_000053.4(ATP7B):c.3784G>T (p.Val1262Phe) rs769484789
NM_000053.4(ATP7B):c.3786C>T (p.Val1262=) rs375007352
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg) rs121907992
NM_000053.4(ATP7B):c.3818C>A (p.Pro1273Gln) rs758355520
NM_000053.4(ATP7B):c.3863C>G (p.Thr1288Arg) rs373748155
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.3895C>T (p.Leu1299Phe) rs749472361
NM_000053.4(ATP7B):c.4035C>T (p.Pro1345=) rs564541246
NM_000053.4(ATP7B):c.4039G>A (p.Gly1347Ser) rs587783318
NM_000053.4(ATP7B):c.4058G>A (p.Trp1353Ter) rs193922110
NM_000053.4(ATP7B):c.406A>G (p.Arg136Gly) rs557577836
NM_000053.4(ATP7B):c.4088C>T (p.Ser1363Phe) rs776848753
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.4283dup (p.Ser1429fs) rs1555282191
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317
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.524_525del (p.Lys175fs) rs558037268
NM_000053.4(ATP7B):c.562C>T (p.Gln188Ter) rs1412593296
NM_000053.4(ATP7B):c.588C>A (p.Asp196Glu) rs756718353
NM_000053.4(ATP7B):c.610A>G (p.Met204Val)
NM_000053.4(ATP7B):c.628A>G (p.Ile210Val) rs61733680
NM_000053.4(ATP7B):c.740A>G (p.Glu247Gly) rs376398239
NM_000053.4(ATP7B):c.778dup (p.Gln260fs) rs786204570
NM_000053.4(ATP7B):c.813C>T (p.Cys271=) rs572147914
NM_000053.4(ATP7B):c.970A>T (p.Lys324Ter) rs911589273
NM_000054.6(AVPR2):c.740G>A (p.Arg247His) rs149668713
NM_000057.4(BLM):c.1003_1006dup (p.Ser336delinsThrTer) rs1057517359
NM_000057.4(BLM):c.1083_1084del (p.Cys361_Asp362delinsTer) rs1057517030
NM_000057.4(BLM):c.114A>G (p.Lys38=) rs770017301
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057
NM_000057.4(BLM):c.1284G>A (p.Trp428Ter) rs1057516964
NM_000057.4(BLM):c.1301C>G (p.Ser434Ter) rs754203833
NM_000057.4(BLM):c.1315A>G (p.Met439Val) rs201231857
NM_000057.4(BLM):c.1316del (p.Met439fs) rs1555419829
NM_000057.4(BLM):c.1467G>A (p.Arg489=) rs56257041
NM_000057.4(BLM):c.1479_1480del (p.Thr494fs) rs746244182
NM_000057.4(BLM):c.1490A>G (p.Gln497Arg) rs368547042
NM_000057.4(BLM):c.1601A>G (p.Asn534Ser) rs35224686
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.1825C>A (p.Pro609Thr) rs770255643
NM_000057.4(BLM):c.1833A>G (p.Ser611=) rs747181657
NM_000057.4(BLM):c.191A>T (p.Asp64Val) rs140382474
NM_000057.4(BLM):c.1928G>A (p.Arg643His) rs12720097
NM_000057.4(BLM):c.1968dup (p.Lys657fs) rs772785079
NM_000057.4(BLM):c.2015A>G (p.Gln672Arg) rs747281324
NM_000057.4(BLM):c.204C>A (p.Thr68=) rs199927688
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser) rs146077918
NM_000057.4(BLM):c.2160C>T (p.Ile720=) rs28385028
NM_000057.4(BLM):c.2169A>G (p.Gln723=) rs781635047
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs) rs786204471
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu) rs142551229
NM_000057.4(BLM):c.2268A>G (p.Lys756=) rs146013879
NM_000057.4(BLM):c.2291_2292del (p.Tyr764fs) rs1555420602
NM_000057.4(BLM):c.2333C>G (p.Ser778Cys) rs139610577
NM_000057.4(BLM):c.2343_2344dup (p.Asn782fs) rs1555420842
NM_000057.4(BLM):c.2362C>A (p.Leu788Ile) rs149754073
NM_000057.4(BLM):c.2488dup (p.Thr830fs) rs367543019
NM_000057.4(BLM):c.2515A>G (p.Lys839Glu) rs201427280
NM_000057.4(BLM):c.254G>C (p.Arg85Thr) rs141503266
NM_000057.4(BLM):c.2555+8G>A rs1388713132
NM_000057.4(BLM):c.2556-8T>C rs1567052156
NM_000057.4(BLM):c.2580_2581del (p.His860fs) rs864622347
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.274A>G (p.Asn92Asp) rs200690226
NM_000057.4(BLM):c.2824-7A>G rs374616797
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.298_299del (p.Gln100fs) rs745807085
NM_000057.4(BLM):c.3028del (p.Asp1010fs) rs780379121
NM_000057.4(BLM):c.3039T>C (p.His1013=) rs747406569
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.3164G>A (p.Cys1055Tyr) rs367543029
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser) rs367543029
NM_000057.4(BLM):c.3267A>G (p.Gln1089=) rs1396484162
NM_000057.4(BLM):c.3305_3306del (p.His1102fs) rs1057516253
NM_000057.4(BLM):c.3475_3476del (p.Leu1159fs) rs367543033
NM_000057.4(BLM):c.3499del (p.Ala1167fs) rs1555424305
NM_000057.4(BLM):c.3508del (p.Tyr1170fs) rs1555424311
NM_000057.4(BLM):c.3558+1G>T rs148969222
NM_000057.4(BLM):c.3585C>T (p.Ser1195=) rs1023322113
NM_000057.4(BLM):c.3589del (p.Ser1197fs) rs1555424376
NM_000057.4(BLM):c.3609G>A (p.Ala1203=) rs151114049
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile) rs28385141
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr) rs1801256
NM_000057.4(BLM):c.3667dup (p.Thr1223fs) rs1057517154
NM_000057.4(BLM):c.3692_3693del (p.Lys1231fs) rs1234064430
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.3847C>T (p.Gln1283Ter) rs367543031
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.3890del (p.Pro1297fs) rs1555425062
NM_000057.4(BLM):c.3933C>T (p.Ala1311=) rs756451802
NM_000057.4(BLM):c.3934G>A (p.Ala1312Thr) rs527291754
NM_000057.4(BLM):c.4076+4T>G rs183176301
NM_000057.4(BLM):c.4077-10C>T rs145310008
NM_000057.4(BLM):c.4113G>A (p.Thr1371=) rs61754135
NM_000057.4(BLM):c.437A>T (p.Asp146Val) rs902876126
NM_000057.4(BLM):c.43C>T (p.Arg15Cys) rs148545569
NM_000057.4(BLM):c.465T>C (p.Asp155=) rs185349681
NM_000057.4(BLM):c.479_480del (p.Asp159_Phe160insTer) rs1555418352
NM_000057.4(BLM):c.581_582del (p.Phe193_Phe194insTer) rs367543026
NM_000057.4(BLM):c.608_609del (p.Thr203fs) rs1170049553
NM_000057.4(BLM):c.696C>A (p.Ser232Arg) rs201845548
NM_000057.4(BLM):c.772_773del (p.Leu258fs) rs367543013
NM_000057.4(BLM):c.807C>T (p.Ser269=) rs147850738
NM_000057.4(BLM):c.98+1G>C rs750293380
NM_000057.4(BLM):c.98+1G>T rs750293380
NM_000057.4(BLM):c.991_995del (p.Lys331fs) rs786204524
NM_000059.3(BRCA2):c.-59_-57del rs545321666
NM_000059.3(BRCA2):c.10127C>G (p.Ser3376Ter) rs1555290049
NM_000059.3(BRCA2):c.10253_10256del (p.Ile3418fs) rs80359259
NM_000059.3(BRCA2):c.1202C>A (p.Ser401Ter) rs80358413
NM_000059.3(BRCA2):c.1219C>T (p.Gln407Ter) rs781079248
NM_000059.3(BRCA2):c.1311A>G (p.Lys437=) rs1566223261
NM_000059.3(BRCA2):c.1359A>T (p.Pro453=) rs730881586
NM_000059.3(BRCA2):c.1409A>C (p.Glu470Ala) rs750341436
NM_000059.3(BRCA2):c.1662T>C (p.Cys554=) rs80358451
NM_000059.3(BRCA2):c.1792dup (p.Thr598fs) rs886040389
NM_000059.3(BRCA2):c.1846del (p.Cys616fs) rs1566224496
NM_000059.3(BRCA2):c.1850C>A (p.Ser617Ter) rs397507278
NM_000059.3(BRCA2):c.1909+22dup rs276174816
NM_000059.3(BRCA2):c.2176del (p.Val726fs) rs1555282499
NM_000059.3(BRCA2):c.2270A>G (p.Lys757Arg) rs763035556
NM_000059.3(BRCA2):c.2581C>T (p.Gln861Ter) rs773356478
NM_000059.3(BRCA2):c.2658_2659del (p.Asn886fs) rs397507291
NM_000059.3(BRCA2):c.267G>A (p.Pro89=) rs587780648
NM_000059.3(BRCA2):c.2731del (p.Glu911fs) rs80359344
NM_000059.3(BRCA2):c.2870del (p.Asn957fs) rs397507645
NM_000059.3(BRCA2):c.2T>C (p.Met1Thr) rs80358547
NM_000059.3(BRCA2):c.3385C>T (p.Gln1129Ter) rs1555283209
NM_000059.3(BRCA2):c.3436G>T (p.Glu1146Ter) rs1237049560
NM_000059.3(BRCA2):c.3445A>G (p.Met1149Val) rs80358589
NM_000059.3(BRCA2):c.3649del (p.Arg1217fs) rs864622134
NM_000059.3(BRCA2):c.3682A>G (p.Asn1228Asp) rs28897722
NM_000059.3(BRCA2):c.3703C>T (p.Gln1235Ter) rs1555283366
NM_000059.3(BRCA2):c.376C>T (p.Gln126Ter) rs1555280859
NM_000059.3(BRCA2):c.3858_3860del (p.Lys1286del) rs80359406
NM_000059.3(BRCA2):c.3914_3915del (p.Phe1305fs) rs397507698
NM_000059.3(BRCA2):c.3916G>A (p.Val1306Ile) rs80358636
NM_000059.3(BRCA2):c.3937del (p.Tyr1313fs) rs1566229421
NM_000059.3(BRCA2):c.4007_4008insCATC (p.Asp1337fs) rs878853577
NM_000059.3(BRCA2):c.4037del (p.Thr1346fs) rs1162394508
NM_000059.3(BRCA2):c.4092_4093insAA (p.Cys1365fs) rs876658329
NM_000059.3(BRCA2):c.4218_4221del (p.Lys1406fs) rs80359435
NM_000059.3(BRCA2):c.4570_4573del (p.Phe1524fs) rs1057517565
NM_000059.3(BRCA2):c.4591A>T (p.Lys1531Ter) rs1555283865
NM_000059.3(BRCA2):c.469_470del (p.Lys157fs) rs397507739
NM_000059.3(BRCA2):c.4894_4895del (p.Ser1632fs) rs397507748
NM_000059.3(BRCA2):c.4921G>T (p.Glu1641Ter) rs1566231364
NM_000059.3(BRCA2):c.5200dup (p.Glu1734fs) rs1555284103
NM_000059.3(BRCA2):c.5319G>A (p.Glu1773=) rs376257217
NM_000059.3(BRCA2):c.5362_5363delinsA (p.Ser1788fs) rs1566232310
NM_000059.3(BRCA2):c.5362dup (p.Ser1788fs) rs587781849
NM_000059.3(BRCA2):c.5653del (p.Cys1885fs) rs886040602
NM_000059.3(BRCA2):c.5667T>C (p.Ile1889=) rs1053022395
NM_000059.3(BRCA2):c.5763T>G (p.Phe1921Leu) rs730881540
NM_000059.3(BRCA2):c.5768A>C (p.Asp1923Ala) rs45491005
NM_000059.3(BRCA2):c.5862_5863del (p.Ser1955fs) rs786202700
NM_000059.3(BRCA2):c.5962G>A (p.Val1988Ile) rs28897739
NM_000059.3(BRCA2):c.6155dup (p.Ser2053fs) rs1566234047
NM_000059.3(BRCA2):c.6237G>A (p.Val2079=) rs864622516
NM_000059.3(BRCA2):c.632-16A>C rs81002905
NM_000059.3(BRCA2):c.6393del (p.Lys2131fs) rs886038145
NM_000059.3(BRCA2):c.63A>G (p.Lys21=) rs1280004443
NM_000059.3(BRCA2):c.6487C>T (p.Gln2163Ter) rs398122559
NM_000059.3(BRCA2):c.67+16A>G rs529148674
NM_000059.3(BRCA2):c.6762del (p.Phe2254fs) rs80359624
NM_000059.3(BRCA2):c.68-7del rs276174878
NM_000059.3(BRCA2):c.681+4A>G rs397507884
NM_000059.3(BRCA2):c.6842-14A>G rs81002821
NM_000059.3(BRCA2):c.6915G>A (p.Lys2305=) rs1555285156
NM_000059.3(BRCA2):c.6935A>T (p.Asp2312Val) rs80358916
NM_000059.3(BRCA2):c.7008-62A>G rs76584943
NM_000059.3(BRCA2):c.7097dup (p.Thr2367fs) rs786202600
NM_000059.3(BRCA2):c.7110dup (p.Ser2371fs) rs80359638
NM_000059.3(BRCA2):c.7147dup (p.Tyr2383fs) rs878853599
NM_000059.3(BRCA2):c.718_719del (p.Leu240fs) rs1555281459
NM_000059.3(BRCA2):c.7414_7415del (p.Lys2472fs) rs80359650
NM_000059.3(BRCA2):c.7422A>G (p.Glu2474=) rs1566241334
NM_000059.3(BRCA2):c.7436-20A>G rs878853604
NM_000059.3(BRCA2):c.7525dup (p.Ser2509fs) rs80359656
NM_000059.3(BRCA2):c.7529T>C (p.Leu2510Pro) rs80358979
NM_000059.3(BRCA2):c.7618-6G>T rs1057520251
NM_000059.3(BRCA2):c.7626G>A (p.Thr2542=) rs61754138
NM_000059.3(BRCA2):c.7684T>C (p.Phe2562Leu) rs80358995
NM_000059.3(BRCA2):c.7786G>A (p.Gly2596Arg) rs398122591
NM_000059.3(BRCA2):c.7787G>A (p.Gly2596Glu) rs1064795140
NM_000059.3(BRCA2):c.7826G>T (p.Gly2609Val) rs80359009
NM_000059.3(BRCA2):c.7832A>G (p.Asp2611Gly) rs80359010
NM_000059.3(BRCA2):c.7976+1G>A rs81002873
NM_000059.3(BRCA2):c.7976+5G>T rs786201180
NM_000059.3(BRCA2):c.799G>T (p.Gly267Ter) rs786202796
NM_000059.3(BRCA2):c.8023A>G (p.Ile2675Val) rs397507954
NM_000059.3(BRCA2):c.8063T>C (p.Leu2688Pro) rs80359045
NM_000059.3(BRCA2):c.8162T>A (p.Leu2721His) rs80359061
NM_000059.3(BRCA2):c.8168A>C (p.Asp2723Ala) rs41293513
NM_000059.3(BRCA2):c.8168A>T (p.Asp2723Val) rs41293513
NM_000059.3(BRCA2):c.8355T>C (p.Pro2785=) rs1057524419
NM_000059.3(BRCA2):c.8362T>C (p.Trp2788Arg) rs80359079
NM_000059.3(BRCA2):c.8375T>C (p.Leu2792Pro) rs28897751
NM_000059.3(BRCA2):c.8378G>A (p.Gly2793Glu) rs80359083
NM_000059.3(BRCA2):c.847A>G (p.Ile283Val) rs80359097
NM_000059.3(BRCA2):c.8487+9T>A rs1593930592
NM_000059.3(BRCA2):c.8807T>C (p.Leu2936Ser) rs398122714
NM_000059.3(BRCA2):c.8850G>A (p.Lys2950=) rs28897754
NM_000059.3(BRCA2):c.9008G>A (p.Gly3003Glu) rs1566253139
NM_000059.3(BRCA2):c.9032T>C (p.Leu3011Pro) rs80359155
NM_000059.3(BRCA2):c.9087G>A (p.Ala3029=) rs368576266
NM_000059.3(BRCA2):c.9118-18T>C rs1555288527
NM_000059.3(BRCA2):c.9218A>G (p.Asp3073Gly) rs80359186
NM_000059.3(BRCA2):c.9227G>T (p.Gly3076Val) rs80359187
NM_000059.3(BRCA2):c.9256_9256+1delinsTA rs587781422
NM_000059.3(BRCA2):c.9257-2A>G rs886040954
NM_000059.3(BRCA2):c.9374T>A (p.Leu3125His) rs80359209
NM_000059.3(BRCA2):c.9501+4A>G rs81002848
NM_000059.3(BRCA2):c.963A>G (p.Gln321=) rs276174927
NM_000059.3(BRCA2):c.9649-6del rs276174929
NM_000059.3(BRCA2):c.9770_9771del (p.Lys3257fs) rs1566260997
NM_000059.4(BRCA2):c.-39-12_-39-10del rs276174798
NM_000059.4(BRCA2):c.-41G>A rs879255312
NM_000059.4(BRCA2):c.10095delinsGAATTATATCT (p.Ser3366fs) rs276174803
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=) rs28897762
NM_000059.4(BRCA2):c.10150C>T (p.Arg3384Ter) rs397507568
NM_000059.4(BRCA2):c.1077A>G (p.Glu359=) rs1135401832
NM_000059.4(BRCA2):c.1181A>C (p.Glu394Ala) rs56016241
NM_000059.4(BRCA2):c.1395A>C (p.Val465=) rs11571641
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708
NM_000059.4(BRCA2):c.1550A>G (p.Asn517Ser) rs80358439
NM_000059.4(BRCA2):c.1798T>C (p.Tyr600His) rs75419644
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.223G>C (p.Ala75Pro) rs28897701
NM_000059.4(BRCA2):c.2274T>G (p.Ser758Arg) rs142243359
NM_000059.4(BRCA2):c.231T>G (p.Thr77=) rs114446594
NM_000059.4(BRCA2):c.241T>A (p.Phe81Ile) rs80358507
NM_000059.4(BRCA2):c.2550A>G (p.Gln850=) rs80359785
NM_000059.4(BRCA2):c.2589T>A (p.Asn863Lys) rs80358521
NM_000059.4(BRCA2):c.2672dup (p.Phe892fs)
NM_000059.4(BRCA2):c.280C>T (p.Pro94Ser) rs80358531
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=) rs11571655
NM_000059.4(BRCA2):c.2886_3144del (p.His962fs)
NM_000059.4(BRCA2):c.2918C>T (p.Ser973Leu) rs397507296
NM_000059.4(BRCA2):c.3059_3060del (p.Leu1019_Ser1020insTer) rs876661270
NM_000059.4(BRCA2):c.3088T>G (p.Phe1030Val) rs80358554
NM_000059.4(BRCA2):c.3100_3101del (p.Asp1033_Ile1034insTer) rs1555283051
NM_000059.4(BRCA2):c.316+5G>A rs81002840
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=) rs36060526
NM_000059.4(BRCA2):c.3481_3482dup (p.Asp1161fs) rs878853569
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600
NM_000059.4(BRCA2):c.3786A>T (p.Ser1262=) rs1042077901
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724
NM_000059.4(BRCA2):c.4187A>G (p.Gln1396Arg) rs55969723
NM_000059.4(BRCA2):c.425G>T (p.Ser142Ile) rs397507713
NM_000059.4(BRCA2):c.4312_4313dup (p.Ala1439fs) rs1064794168
NM_000059.4(BRCA2):c.4531G>A (p.Glu1511Lys) rs376338226
NM_000059.4(BRCA2):c.4614T>C (p.Ser1538=) rs45520945
NM_000059.4(BRCA2):c.467A>G (p.Asp156Gly) rs68071147
NM_000059.4(BRCA2):c.4928T>C (p.Val1643Ala) rs28897731
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561
NM_000059.4(BRCA2):c.5225_5230del (p.Asn1742_Ser1743del) rs276174855
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755
NM_000059.4(BRCA2):c.5612G>A (p.Ser1871Asn) rs80358782
NM_000059.4(BRCA2):c.5729A>T (p.Asn1910Ile) rs276174863
NM_000059.4(BRCA2):c.5855T>A (p.Leu1952Ter) rs375064902
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.6244del (p.Glu2082fs)
NM_000059.4(BRCA2):c.627C>A (p.Leu209=) rs28897704
NM_000059.4(BRCA2):c.631G>A (p.Val211Ile) rs80358871
NM_000059.4(BRCA2):c.6554C>T (p.Ala2185Val) rs980859921
NM_000059.4(BRCA2):c.67+2T>G rs81002885
NM_000059.4(BRCA2):c.68-7T>A rs81002830
NM_000059.4(BRCA2):c.7007G>T (p.Arg2336Leu) rs28897743
NM_000059.4(BRCA2):c.7017G>C (p.Lys2339Asn) rs45574331
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.7436-1G>T
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624
NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744
NM_000059.4(BRCA2):c.7712A>G (p.Glu2571Gly) rs55689095
NM_000059.4(BRCA2):c.7792GAA[1] (p.Glu2599del) rs80359682
NM_000059.4(BRCA2):c.7805+13A>G rs149769332
NM_000059.4(BRCA2):c.793+1G>A rs81002846
NM_000059.4(BRCA2):c.7977-3_7977-2delinsAG rs1135401921
NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val) rs80359031
NM_000059.4(BRCA2):c.7994A>G (p.Asp2665Gly) rs28897745
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) rs80359035
NM_000059.4(BRCA2):c.8092G>A (p.Ala2698Thr) rs80359052
NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln) rs80359076
NM_000059.4(BRCA2):c.8377G>A (p.Gly2793Arg) rs80359082
NM_000059.4(BRCA2):c.8486A>G (p.Gln2829Arg) rs80359100
NM_000059.4(BRCA2):c.8487+19A>G rs11571743
NM_000059.4(BRCA2):c.8488-1G>A rs397507404
NM_000059.4(BRCA2):c.8524C>T (p.Arg2842Cys) rs80359104
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747
NM_000059.4(BRCA2):c.8754G>A (p.Glu2918=) rs80359803
NM_000059.4(BRCA2):c.8755-1G>A rs81002812
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000059.4(BRCA2):c.8954-5A>G rs886040949
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys) rs80359152
NM_000059.4(BRCA2):c.9006A>T (p.Glu3002Asp) rs80359153
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755
NM_000059.4(BRCA2):c.9041C>G (p.Ser3014Ter) rs80359156
NM_000059.4(BRCA2):c.9096_9097del (p.Lys3032fs) rs397507419
NM_000059.4(BRCA2):c.9104A>C (p.Tyr3035Ser) rs80359165
NM_000059.4(BRCA2):c.9116C>T (p.Pro3039Leu) rs80359167
NM_000059.4(BRCA2):c.9235G>A (p.Val3079Ile) rs55933907
NM_000059.4(BRCA2):c.9242T>C (p.Val3081Ala) rs80359189
NM_000059.4(BRCA2):c.9257-15T>C rs1135401940
NM_000059.4(BRCA2):c.9285C>G (p.Asp3095Glu) rs80359198
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759
NM_000059.4(BRCA2):c.9501+3A>T rs61757642
NM_000059.4(BRCA2):c.9502-12T>G rs81002803
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.9875C>T (p.Pro3292Leu) rs56121817
NM_000059.4(BRCA2):c.9925G>T (p.Glu3309Ter) rs80359251
NM_000059.4(BRCA2):c.9986A>G (p.Asn3329Ser) rs76635144
NM_000061.2(BTK):c.1625T>C (p.Leu542Pro) rs128621203
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_000062.2(SERPING1):c.550G>A (p.Gly184Arg) rs281875170
NM_000062.2(SERPING1):c.849C>T (p.Ser283=) rs143760635
NM_000064.4(C3):c.3671G>A (p.Gly1224Asp) rs11569534
NM_000064.4(C3):c.4100T>C (p.Ile1367Thr) rs11569541
NM_000064.4(C3):c.463A>C (p.Lys155Gln) rs147859257
NM_000065.4(C6):c.542C>T (p.Thr181Ile) rs114609505
NM_000067.3(CA2):c.35-7C>A rs371766356
NM_000067.3(CA2):c.754A>G (p.Asn252Asp) rs2228063
NM_000069.3(CACNA1S):c.1385G>A (p.Arg462His) rs146696298
NM_000069.3(CACNA1S):c.5048+8C>T rs759622507
NM_000070.2(CAPN3):c.1319G>A rs376107921
NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del) rs863224965
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.1063C>T (p.Arg355Trp) rs749099493
NM_000070.3(CAPN3):c.1076C>T (p.Pro359Leu) rs794727895
NM_000070.3(CAPN3):c.1077G>A (p.Pro359=) rs759384108
NM_000070.3(CAPN3):c.1116-5A>G rs28364467
NM_000070.3(CAPN3):c.1194-9A>G rs374665929
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met) rs200646556
NM_000070.3(CAPN3):c.1298_1299del (p.Val433fs) rs1293496023
NM_000070.3(CAPN3):c.1302C>T (p.Asn434=) rs751429914
NM_000070.3(CAPN3):c.1309C>T (p.Arg437Cys) rs777483913
NM_000070.3(CAPN3):c.1318C>T (p.Arg440Trp) rs777323132
NM_000070.3(CAPN3):c.1333G>A (p.Gly445Arg) rs773827877
NM_000070.3(CAPN3):c.133G>A (p.Ala45Thr) rs774048743
NM_000070.3(CAPN3):c.1342C>G (p.Arg448Gly) rs776043976
NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys) rs776043976
NM_000070.3(CAPN3):c.1343G>A (p.Arg448His) rs863224956
NM_000070.3(CAPN3):c.1350C>T (p.Phe450=) rs144944366
NM_000070.3(CAPN3):c.1355-6G>A rs28364485
NM_000070.3(CAPN3):c.1381C>T (p.Arg461Cys) rs1274808359
NM_000070.3(CAPN3):c.1395GGA[2] (p.Glu467del) rs746075428
NM_000070.3(CAPN3):c.1404C>T (p.Asp468=) rs534326487
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.145C>T (p.Arg49Cys) rs794726871
NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln) rs147764579
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp) rs141656719
NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln) rs121434548
NM_000070.3(CAPN3):c.146G>A (p.Arg49His) rs863224958
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr) rs148044781
NM_000070.3(CAPN3):c.1557C>T (p.His519=) rs368385372
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp) rs142004418
NM_000070.3(CAPN3):c.1622G>A (p.Arg541Gln) rs398123143
NM_000070.3(CAPN3):c.1643G>A (p.Arg548His) rs146309264
NM_000070.3(CAPN3):c.1657G>A (p.Glu553Lys) rs767739787
NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln) rs121434544
NM_000070.3(CAPN3):c.1746-20C>G rs201892814
NM_000070.3(CAPN3):c.1746-7C>G rs199978708
NM_000070.3(CAPN3):c.1783-5T>C rs780680647
NM_000070.3(CAPN3):c.1795dup (p.Thr599fs) rs80338803
NM_000070.3(CAPN3):c.1801-1G>A rs886043752
NM_000070.3(CAPN3):c.1812C>T (p.Phe604=) rs144383704
NM_000070.3(CAPN3):c.1818G>A (p.Ser606=) rs28364528
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.1993-1G>A rs369552114
NM_000070.3(CAPN3):c.2040C>T (p.Val680=) rs200583904
NM_000070.3(CAPN3):c.2050+1del rs1555423027
NM_000070.3(CAPN3):c.2051-3C>A rs201294691
NM_000070.3(CAPN3):c.2088C>T (p.Ser696=) rs867628179
NM_000070.3(CAPN3):c.2092C>T (p.Arg698Cys) rs764370512
NM_000070.3(CAPN3):c.2105C>T (p.Ala702Val) rs886042557
NM_000070.3(CAPN3):c.2106G>A (p.Ala702=) rs144260889
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly) rs200379491
NM_000070.3(CAPN3):c.2162G>A (p.Trp721Ter)
NM_000070.3(CAPN3):c.2207_2208del (p.Thr736fs) rs587780289
NM_000070.3(CAPN3):c.2230A>G (p.Ser744Gly) rs750083132
NM_000070.3(CAPN3):c.2235C>T (p.Tyr745=) rs147774793
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln) rs587780290
NM_000070.3(CAPN3):c.2257G>A (p.Asp753Asn) rs146923842
NM_000070.3(CAPN3):c.2259C>T (p.Asp753=)
NM_000070.3(CAPN3):c.2269C>T (p.His757Tyr) rs148246325
NM_000070.3(CAPN3):c.2279dup (p.Asn760fs) rs775130589
NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp) rs868791726
NM_000070.3(CAPN3):c.2306G>A (p.Arg769Gln) rs80338802
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.2337dup (p.Asp780Ter) rs1447774727
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His) rs778768583
NM_000070.3(CAPN3):c.2362_2363delinsTCATCT (p.Arg788fs) rs1555423217
NM_000070.3(CAPN3):c.2380+19C>T rs141234995
NM_000070.3(CAPN3):c.2380+1G>T rs1555423222
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.2440-1G>A rs886044052
NM_000070.3(CAPN3):c.245C>T (p.Pro82Leu) rs886042478
NM_000070.3(CAPN3):c.246G>A (p.Pro82=) rs146529432
NM_000070.3(CAPN3):c.318C>T (p.Cys106=) rs117609395
NM_000070.3(CAPN3):c.327_328dup (p.Arg110fs) rs797045427
NM_000070.3(CAPN3):c.371G>C (p.Gly124Ala) rs587780291
NM_000070.3(CAPN3):c.402del (p.Ile135fs) rs746935735
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.503G>A (p.Trp168Ter) rs1555420462
NM_000070.3(CAPN3):c.509A>G (p.Tyr170Cys) rs1555420468
NM_000070.3(CAPN3):c.519G>A (p.Trp173Ter)
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.62G>A (p.Gly21Glu) rs28364364
NM_000070.3(CAPN3):c.640G>A (p.Gly214Ser) rs369784333
NM_000070.3(CAPN3):c.717del (p.Phe239fs) rs776059672
NM_000070.3(CAPN3):c.73C>T (p.His25Tyr) rs61735534
NM_000070.3(CAPN3):c.741_751del (p.Met248fs) rs1555420647
NM_000070.3(CAPN3):c.78G>A (p.Pro26=) rs62642519