ClinVar Miner

Variants from EGL Genetic Diagnostics,Eurofins Clinical Diagnostics with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from EGL Genetic Diagnostics,Eurofins Clinical Diagnostics: Collection method of the submission from EGL Genetic Diagnostics,Eurofins Clinical Diagnostics:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

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

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
21806 9597 364 6968 6707 206 1179 13624

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics pathogenic likely pathogenic uncertain significance likely benign benign affects association drug response protective risk factor other
pathogenic 215 982 185 12 8 0 0 15 3 19 25
likely pathogenic 207 3 108 7 5 0 0 6 0 2 3
uncertain significance 387 432 21 4316 1020 1 2 6 1 4 7
likely benign 41 24 988 11 1371 1 1 1 0 2 2
benign 92 33 1119 4411 114 3 5 4 5 28 13
other 26 8 14 23 21 2 1 20 0 4 0

Submitter to submitter summary #

Total submitters: 232
Download table as spreadsheet
Submitter Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
GeneDx 0 6183 6 1323 2488 24 224 4063
Illumina Clinical Services Laboratory,Illumina 0 3530 0 2352 1566 17 89 4016
Invitae 0 6941 0 1295 2307 10 133 3745
Genetic Services Laboratory, University of Chicago 0 1562 0 1087 476 10 32 1603
Ambry Genetics 0 2475 0 577 697 1 45 1319
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 2763 0 423 629 7 31 1090
PreventionGenetics 0 3268 0 585 327 8 10 929
Counsyl 0 1058 0 615 77 5 96 793
Athena Diagnostics Inc 0 1611 0 304 248 0 17 569
OMIM 0 993 0 56 40 138 255 480
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 554 0 347 70 7 12 435
Integrated Genetics/Laboratory Corporation of America 0 1317 7 191 147 10 32 386
GeneReviews 0 233 225 24 11 14 81 353
CeGaT Praxis fuer Humangenetik Tuebingen 0 354 0 85 199 4 37 325
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1138 0 128 142 10 32 312
Biesecker Lab/Human Development Section,National Institutes of Health 0 308 83 81 128 0 1 292
Color 0 519 0 99 165 1 3 268
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 607 0 115 72 3 10 200
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 337 0 95 70 1 3 169
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 284 0 89 50 0 3 142
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 478 0 92 27 4 2 125
Center for Human Genetics, Inc 0 81 0 55 60 0 2 117
Fulgent Genetics 0 1093 0 76 22 3 4 105
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 266 0 61 38 0 4 103
True Health Diagnostics 0 63 0 88 11 0 0 99
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 174 0 69 21 0 4 94
Quest Diagnostics Nichols Institute San Juan Capistrano 0 218 0 51 26 1 9 87
NIHR Bioresource Rare Diseases,University of Cambridge 0 36 0 31 3 1 37 72
CSER_CC_NCGL; University of Washington Medical Center 0 83 0 22 34 3 9 68
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 0 21 46 11 4 0 0 61
Wong Mito Lab, Molecular and Human Genetics,Baylor College of Medicine 0 43 0 8 36 0 14 58
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 82 0 17 20 0 19 56
Department of Pathology and Laboratory Medicine,Sinai Health System 0 200 0 39 17 0 0 56
SIB Swiss Institute of Bioinformatics 0 69 0 39 6 1 8 54
Breast Cancer Information Core (BIC) (BRCA2) 0 65 0 2 45 0 1 48
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 114 0 21 26 0 0 47
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 80 0 36 10 0 1 47
Sharing Clinical Reports Project (SCRP) 0 90 0 19 25 0 1 45
Baylor Miraca Genetics Laboratories, 0 153 0 12 17 1 13 43
Blueprint Genetics, 0 48 0 15 16 4 7 42
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 25 0 38 3 0 0 41
PharmGKB 0 0 0 0 0 39 0 39
Mendelics 0 145 0 12 15 0 11 38
Database of Curated Mutations (DoCM) 0 2 0 25 0 0 11 36
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 77 0 14 5 3 15 36
ARUP Institute,ARUP Laboratories 0 101 0 10 4 4 17 35
Department of Ophthalmology and Visual Sciences Kyoto University 0 5 3 26 4 0 1 34
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 17 0 8 18 1 5 32
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 2 3 17 0 0 8 28
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 62 0 7 19 1 1 28
Breast Cancer Information Core (BIC) (BRCA1) 0 48 0 3 24 0 1 27
Pathway Genomics 0 60 0 24 2 0 0 26
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 41 0 8 9 2 5 24
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg 0 16 0 7 1 2 13 23
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 9 0 6 7 0 9 22
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 0 1 0 0 0 0 22 22
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 71 0 3 7 0 11 21
Michigan Medical Genetics Laboratories,University of Michigan 0 93 0 16 5 0 0 21
Personalized Diabetes Medicine Program,University of Maryland School of Medicine 0 19 0 7 13 0 1 21
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 42 0 1 17 0 3 21
Vantari Genetics 0 31 0 14 5 1 0 20
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 12 0 3 0 2 15 20
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 5 0 5 1 0 12 18
Division of Human Genetics,Children's Hospital of Philadelphia 0 60 0 12 2 2 2 18
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 27 0 9 4 1 2 16
ClinGen RASopathy Variant Curation Expert Panel, 0 45 0 8 7 0 1 16
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 18 0 11 5 0 0 16
Center for Genetic Medicine Research,Children's National Medical Center 0 5 0 8 4 0 3 15
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 52 0 5 4 3 2 14
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 44052 962 0 3 6 0 4 13
Gharavi Laboratory,Columbia University 0 17 0 4 3 0 6 13
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 8 0 0 4 12
Clinical Biochemistry Laboratory,Health Services Laboratory 0 3 0 0 8 0 3 11
RettBASE 0 64 0 6 4 0 1 11
UCLA Clinical Genomics Center, UCLA 0 4 0 8 0 0 3 11
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 13 0 4 0 0 7 11
Foulkes Cancer Genetics LDI,Lady Davis Institute for Medical Research 0 17 0 2 5 0 3 10
Center for Medical Genetics Ghent,University of Ghent 0 3 0 4 3 0 3 10
HudsonAlpha Institute for Biotechnology 0 34 0 7 1 0 2 10
UW Hindbrain Malformation Research Program,University of Washington 0 15 0 1 0 0 9 10
Human Genetics - Radboudumc,Radboudumc 0 24 0 5 1 0 4 10
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency 0 50 0 10 0 0 0 10
ClinGen PAH Variant Curation Expert Panel, 0 50 0 2 0 0 8 10
University of Washington Center for Mendelian Genomics,University of Washington 0 1 0 7 0 0 2 9
Department of Laboratory Medicine and Genetics,Trillium Health Partners Credit Valley Hospital 0 9 0 2 1 2 4 9
Dan Cohn Lab,University Of California Los Angeles 0 7 0 2 0 0 7 9
Systems Biology Platform Zhejiang California International NanoSystems Institute 0 0 0 0 0 8 0 8
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 21 0 4 0 2 1 7
GeneKor MSA 0 58 0 6 1 0 0 7
Laboratory of Genetics and Molecular Cardiology,University of São Paulo 0 2 0 3 2 0 2 7
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 0 13 0 4 3 0 0 7
Claritas Genomics 0 23 0 2 3 0 1 6
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 24 0 5 0 0 1 6
CFTR2 0 55 0 5 0 0 1 6
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 31 0 1 2 0 3 6
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust 0 44 0 1 0 0 5 6
Institute of Human Genetics,Klinikum rechts der Isar 0 27 0 2 0 0 4 6
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 19 0 3 1 0 2 6
Centre for Genomic and Experimental Medicine,University of Edinburgh 0 3 0 0 1 0 5 6
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 6 0 4 1 0 1 6
Cancer Genetics Laboratory,Peter MacCallum Cancer Centre 0 0 0 4 2 0 0 6
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center 0 7 0 0 6 0 0 6
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 0 36 0 5 1 0 0 6
SingHealth Duke-NUS Institute of Precision Medicine 0 10 0 0 3 1 2 6
Eye Genetics Research Group,Children's Medical Research Institute 0 2 0 0 2 1 2 5
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 8 0 2 2 1 0 5
Paul Sabatier University EA-4555, Paul Sabatier University 0 0 0 1 3 0 1 5
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 0 9 0 3 0 2 0 5
Clinical Pharmacogenetics Implementation Consortium 0 0 0 0 0 5 0 5
Undiagnosed Diseases Network,NIH 0 14 0 4 0 0 1 5
Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde 0 3 0 3 2 0 0 5
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 8 0 1 0 0 4 5
Clinical Genomics Lab,St. Jude Children's Research Hospital 0 10 0 0 5 0 0 5
ClinGen PTEN Variant Curation Expert Panel 0 10 0 3 0 0 2 5
ClinGen Hearing Loss Variant Curation Expert Panel, 0 18 0 1 4 0 0 5
University of Washington Department of Laboratory Medicine,University of Washington 0 11 0 3 2 0 0 5
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne 0 13 0 5 0 0 0 5
PXE International 0 2 0 0 0 0 4 4
Center for Bioinformatics, Peking University 0 9 0 1 0 0 3 4
Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire 0 0 0 3 1 0 0 4
Center for Human Genetics,University of Leuven 0 1 0 3 0 0 1 4
Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc. 0 0 0 0 3 0 1 4
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 4 0 2 1 0 1 4
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova 0 7 0 3 0 0 1 4
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 7 0 3 0 0 1 4
Johns Hopkins Genomics,Johns Hopkins University 0 7 0 2 2 0 0 4
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 0 9 0 2 0 0 1 3
UniProtKB/Swiss-Prot 0 39 0 1 2 0 0 3
Shaikh Laboratory, University of Colorado 0 0 0 2 0 0 1 3
Institute for Ophthalmic Research,University Tuebingen 0 8 0 0 0 0 3 3
Dobyns Lab,Seattle Children's Research Institute 0 4 0 1 0 0 2 3
Albrecht-Kossel-Institute,Medical University Rostock 0 0 0 1 0 3 1 3
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 0 0 1 0 0 2 3
Erich and Hanna Klessmann Institute for Cardiovascular Research and Development,Heart and Diabetes Center North Rhine-Westphalia 0 6 0 0 1 0 2 3
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 4 0 0 0 2 1 3
Robarts Research Institute,Western University 0 1 0 2 1 0 0 3
Neurogenetics Laboratory - MEYER,AOU Meyer 0 3 0 2 0 0 1 3
Phosphorus, Inc. 0 39 0 2 1 0 0 3
Yale Center for Mendelian Genomics,Yale University 0 2 0 3 0 0 0 3
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 17 0 2 1 0 0 3
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 2 0 0 1 0 2 3
Laboratoire de Cytogenetique,Hospices Civils de Lyon 0 1 0 1 0 0 2 3
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 0 8 0 1 0 1 1 3
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 25 0 0 1 0 1 2
Cancer Genomic Medicine Translational Research Lab,Cleveland Clinic Genomic Medicine Institute 0 0 0 0 2 0 0 2
Elsea Laboratory,Baylor College of Medicine 0 0 0 0 0 0 2 2
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 7 0 0 1 0 1 2
Molecular Diagnostics Laboratory,Seoul National University Hospital 0 3 0 0 2 0 0 2
Molecular Vision Laboratory 0 0 0 0 0 2 0 2
GenMed Metabolism Lab 0 7 0 0 0 0 2 2
Genetics Laboratories, Oxford Radcliffe Hospitals NHS Trust 0 0 0 1 1 0 0 2
PALB2 database 0 7 0 0 0 0 2 2
Wellcome Centre for Mitochondrial Research,Newcastle University 0 8 0 1 0 0 1 2
Department of Pharmacy and Biotechnology,University of Bologna 0 0 0 0 0 2 0 2
Department of Genetics, Reproduction and Fetal Medicine.,Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville. 0 0 0 0 1 0 1 2
Scripps Translational Science Institute,Scripps Health and The Scripps Research Institute 0 0 0 0 0 0 2 2
Neurogenetics of motion laboratory,Montreal Neurological Institute 0 0 0 2 0 0 0 2
HerediLab, Inc. 0 0 0 0 1 0 1 2
Forensic Genetics Laboratory,Harris County Institute of Forensic Sciences 0 0 0 0 0 0 2 2
Clinical Genetics, Erasmus University Medical Center 0 0 0 0 2 0 0 2
Department of Medical Genetics,University Hospital of North Norway 0 4 0 2 0 0 0 2
GenePathDx,Causeway Health Care Private Ltd 0 3 0 1 1 0 0 2
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 32 0 2 0 0 0 2
Daryl Scott Lab,Baylor College of Medicine 0 0 0 1 0 1 0 2
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 0 3 0 1 0 0 1 2
Human Genomics Unit,Institute for molecular medicine Finland (FIMM) 0 1 0 0 1 0 1 2
Translational Research Program on Neuronal Ceroid Lipofuscinosis,Center for the Study of Inborn Errors of Metabolism 0 0 0 0 0 0 2 2
Broad Institute Rare Disease Group,Broad Institute 0 15 0 2 0 0 0 2
Clinical Cancer Genetics and Family Consultants,Athens Medical Center 0 0 0 0 0 0 2 2
Genetic Diseases Diagnostic Center,Koc University Hospital 0 0 0 2 0 0 0 2
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 0 8 0 2 0 0 0 2
Genetic Diagnostic Laboratory,University of Pennsylvania School of Medicine 0 6 0 0 0 0 1 1
Hehr Laboratory,Center for Human Genetics - University of Regensburg 0 1 0 0 0 0 1 1
FirmaLab 0 3 0 0 0 1 0 1
Harvard Reproductive Endocrine Science Center,Massachusetts General Hospital 0 0 0 0 0 0 1 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 0 28 0 1 0 0 0 1
Garg Lab, Nationwide Children's Hospital 0 0 0 0 0 1 0 1
Willoughby Group, Queen's University Belfast 0 0 0 0 0 0 1 1
Familial Cancer Clinic,Veneto Institute of Oncology 0 0 0 0 0 0 1 1
LISIN Facultad de Ciencias Exactas, Universidad Nacional de La Plata 0 5 0 0 0 0 1 1
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 0 1 0 0 0 0 1 1
Human Genetics School of Medicine of Albacete, Castilla-La Mancha University 0 0 0 0 0 0 1 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 0 0 0 0 0 0 1 1
Molecular Genetics Laboratory; Baylor College of Medicine 0 0 0 0 1 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 0 0 1 0 0 0 1
Department of Neurology, University Hospital of Strasbourg 0 0 0 0 0 0 1 1
Foundation Medicine, Inc. 0 0 0 0 1 0 0 1
Laboratory of Human Genetics,Universidade de São Paulo 0 0 0 1 0 0 0 1
Center for Individualized Medicine,Mayo Clinic 0 0 0 1 0 0 0 1
DST/NWU Preclinical Drug Development Platform,North-West University 0 0 0 0 1 0 0 1
Endocrine Unit 2,University Hospital of Pisa 0 0 0 0 1 0 0 1
Department of Clinical Genetics,Tartu University Hospital 0 0 0 1 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes 0 11 0 1 0 0 0 1
Genome Sciences Centre,British Columbia Cancer Agency 0 3 0 1 0 0 0 1
UCL Genetics Institute,UCL 0 0 0 0 0 0 1 1
Medical Research Institute,Tokyo Medical and Dental University 0 0 0 0 0 0 1 1
Department of Pediatrics and Neonatology,Nagoya City University Graduate School of Medical Sciences 0 1 0 1 0 0 0 1
Leeds Amelogenesis Imperfecta Research Group,Leeds University 0 1 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille 0 0 0 0 1 0 0 1
Hereditary Research Laboratory,Bethlehem University 0 2 0 0 0 0 1 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 13 0 0 0 0 1 1
Center for Statistical Genetics,Baylor College of Medicine 0 3 0 0 1 0 0 1
University of Arizona Genetics Core,University of Arizona 0 0 0 0 0 0 1 1
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 1 0 0 1 0 0 1
Weber Lab,Hannover Medical School 0 0 0 0 0 0 1 1
Kasturba Medical College,Manipal University 0 1 0 0 1 0 0 1
Division of Medical Genetics; Sainte-Justine Hospital 0 1 0 0 0 0 1 1
Endocrine oncology group,Uppsala University 0 0 0 1 0 0 0 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
RBHT Clinical Genetics and Genomics Laboratory,Royal Brompton and Harefield NHS Foundation Trust 0 0 0 1 0 0 0 1
Institute of Medical Genetics,University of Zurich 0 0 0 0 0 0 1 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 9 0 0 1 0 0 1
Fundacion Hipercolesterolemia Familiar 0 0 0 0 1 0 0 1
Department of Pathology and Molecular Medicine,Queen's University 0 15 0 0 1 0 0 1
Department of Medical Sciences,Uppsala University 0 4 0 0 0 0 1 1
Tolun Lab, Human Genetics Laboratory,Bogazici University 0 0 0 0 1 0 0 1
Molecular ImmunoRheumatology UMRS_1109,Institut national de la santé et de la recherche médicale 0 0 0 1 0 0 0 1
Centre for Arab Genomic Studies,Sheikh Hamdan Award for Medical Sciences 0 2 0 0 0 0 1 1
MAGI'S LAB - Medical Genetics Laboratory,MAGI GROUP 0 1 0 0 1 0 0 1
Bodamer Research Lab,Boston Children's Hospital 0 0 0 0 0 0 1 1
Molecular Medicine,University of Leeds 0 1 0 0 0 0 1 1
Tampere Brain Tumor Research Consortium,University of Tampere 0 1 0 0 0 0 1 1
Schule lab,Hertie Institute for Clinical Brain Research 0 0 0 1 0 0 0 1
Dept. of Medical Genetics, Telemark Hospital Trust 0 2 0 0 0 0 1 1
Medical Genetics Summaries 0 0 0 0 0 1 0 1
Center of Medical Genetics,Central South University 0 0 0 0 0 1 0 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
Liping Wei Laboratory,Peking University 0 0 0 0 0 0 1 1
Dash Lab,University Health Network 0 0 0 1 0 0 0 1
Dr. Alfred Bastarche Laboratory,Dr. Georges L. Dumont University Hospital Centre 0 0 0 0 0 0 1 1
Mayo Clinic Genomics Laboratory,Mayo Clinic 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 13624
Download table as spreadsheet
HGVS dbSNP
G6PD:c.1455-13T>C rs2071429
NC_000012.12:g.121626879_121626884delACCGCC rs1555322544
NM_000016.5(ACADM):c.-34T>C rs59932454
NM_000016.5(ACADM):c.1161A>G (p.Val387=) rs1061337
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.199T>C (p.Tyr67His) rs121434280
NM_000016.5(ACADM):c.216+10T>C rs2275378
NM_000016.5(ACADM):c.244dupT (p.Trp82Leufs) rs786204566
NM_000016.5(ACADM):c.253G>T (p.Gly85Cys) rs398123075
NM_000016.5(ACADM):c.320T>C (p.Leu107Ser) rs746136472
NM_000016.5(ACADM):c.351A>C (p.Thr117=) rs74090726
NM_000016.5(ACADM):c.387+1delG rs786204424
NM_000016.5(ACADM):c.388-5G>A rs759254037
NM_000016.5(ACADM):c.430_432del (p.Lys144del) rs875989857
NM_000016.5(ACADM):c.443G>A (p.Arg148Lys) rs778906552
NM_000016.5(ACADM):c.449_452delCTGA (p.Thr150Argfs) rs786204642
NM_000016.5(ACADM):c.489T>G (p.Pro163=) rs78392995
NM_000016.5(ACADM):c.558T>A (p.Asn186Lys) rs754359356
NM_000016.5(ACADM):c.583G>A (p.Gly195Arg) rs121434278
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.734C>T (p.Ser245Leu) rs121434281
NM_000016.5(ACADM):c.799G>A (p.Gly267Arg) rs121434274
NM_000016.5(ACADM):c.928G>A (p.Gly310Arg) rs747268471
NM_000016.5(ACADM):c.994C>T (p.Leu332=) rs138098371
NM_000016.5(ACADM):c.999_1011dup (p.Gln338Terfs) rs1225471006
NM_000017.3(ACADS):c.*5G>A rs2229533
NM_000017.3(ACADS):c.360C>T (p.Asn120=) rs76543640
NM_000017.3(ACADS):c.423G>A (p.Thr141=) rs2239686
NM_000017.3(ACADS):c.529T>C (p.Trp177Arg) rs57443665
NM_000017.3(ACADS):c.625G>A (p.Gly209Ser) rs1799958
NM_000018.2(ACADVL):c.1182+1G>A rs113690956
NM_000018.3(ACADVL):c.1066A>G (p.Ile356Val) rs150140386
NM_000018.3(ACADVL):c.1153C>T (p.Arg385Trp) rs745832866
NM_000018.3(ACADVL):c.1273G>A (p.Ala425Thr) rs138834083
NM_000018.3(ACADVL):c.128G>A (p.Gly43Asp) rs2230178
NM_000018.3(ACADVL):c.1322G>A (p.Gly441Asp) rs2309689
NM_000018.3(ACADVL):c.1357C>T (p.Arg453Ter) rs794727113
NM_000018.3(ACADVL):c.1367G>A (p.Arg456His) rs794727112
NM_000018.3(ACADVL):c.1406G>A (p.Arg469Gln) rs398123083
NM_000018.3(ACADVL):c.1434+14T>A rs202217537
NM_000018.3(ACADVL):c.1532G>A (p.Arg511Gln) rs200771970
NM_000018.3(ACADVL):c.1600G>A (p.Glu534Lys) rs2230180
NM_000018.3(ACADVL):c.1839G>A (p.Arg613=) rs79125791
NM_000018.3(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617
NM_000018.3(ACADVL):c.194C>T (p.Pro65Leu) rs28934585
NM_000018.3(ACADVL):c.298_299delCA (p.Gln100Valfs) rs786204713
NM_000018.3(ACADVL):c.343delG (p.Glu115Lysfs) rs387906249
NM_000018.3(ACADVL):c.49C>T (p.Leu17Phe) rs2230179
NM_000018.3(ACADVL):c.538G>A (p.Ala180Thr) rs727503791
NM_000018.3(ACADVL):c.623-8C>T rs144996066
NM_000018.3(ACADVL):c.636C>T (p.Ala212=) rs76547988
NM_000018.3(ACADVL):c.637G>A (p.Ala213Thr) rs140629318
NM_000018.3(ACADVL):c.678C>A (p.Ala226=) rs372114185
NM_000018.3(ACADVL):c.848T>C (p.Val283Ala) rs113994167
NM_000018.3(ACADVL):c.896_898delAGA (p.Lys299del) rs387906252
NM_000018.4(ACADVL):c.1038G>A (p.Ala346=) rs8064573
NM_000018.4(ACADVL):c.1077_1077+1delinsCAC rs1057516686
NM_000018.4(ACADVL):c.1097G>A (p.Arg366His) rs112406105
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.1349G>A (p.Arg450His) rs118204016
NM_000018.4(ACADVL):c.520G>A (p.Val174Met) rs369560930
NM_000019.3(ACAT1):c.*6dupC rs111390656
NM_000019.3(ACAT1):c.-15C>G rs113348145
NM_000019.3(ACAT1):c.436-4G>A rs3741050
NM_000019.3(ACAT1):c.444_445delGG (p.Met148Ilefs) rs727503795
NM_000019.3(ACAT1):c.455G>C (p.Gly152Ala) rs762991875
NM_000019.3(ACAT1):c.471C>A (p.Ser157=) rs35188041
NM_000019.3(ACAT1):c.472A>G (p.Asn158Asp) rs148639841
NM_000019.3(ACAT1):c.473A>G (p.Asn158Ser) rs199524907
NM_000021.3(PSEN1):c.953A>G (p.Glu318Gly) rs17125721
NM_000022.2(ADA):c.320T>C (p.Leu107Pro) rs121908739
NM_000022.2(ADA):c.956_960delAAGAG (p.Glu319Glyfs) rs771266745
NM_000023.2(SGCA):c.100C>T (p.Arg34Cys) rs758647756
NM_000023.2(SGCA):c.270C>T (p.Tyr90=) rs749205073
NM_000023.2(SGCA):c.402C>G (p.Tyr134Ter) rs780264754
NM_000023.2(SGCA):c.541C>A (p.Arg181Ser) rs574376340
NM_000023.2(SGCA):c.614C>A (p.Pro205His) rs757481230
NM_000023.2(SGCA):c.850C>T (p.Arg284Cys) rs137852623
NM_000023.3(SGCA):c.-8G>A rs149296410
NM_000023.3(SGCA):c.101G>A (p.Arg34His) rs371675217
NM_000023.3(SGCA):c.1120C>T (p.Arg374Cys) rs35495899
NM_000023.3(SGCA):c.157G>A (p.Ala53Thr) rs60407644
NM_000023.3(SGCA):c.189C>T (p.His63=) rs373770886
NM_000023.3(SGCA):c.292C>T (p.Arg98Cys) rs138945081
NM_000023.3(SGCA):c.293G>A (p.Arg98His) rs137852621
NM_000023.3(SGCA):c.307A>G (p.Ile103Val) rs370819630
NM_000023.3(SGCA):c.313-10C>T rs569744194
NM_000023.3(SGCA):c.322_325dup (p.Asn109Ilefs) rs1555568522
NM_000023.3(SGCA):c.366G>A (p.Leu122=) rs147739328
NM_000023.3(SGCA):c.371T>C (p.Ile124Thr) rs768814872
NM_000023.3(SGCA):c.403C>T (p.Gln135Ter) rs886043221
NM_000023.3(SGCA):c.409G>A (p.Glu137Lys) rs372210292
NM_000023.3(SGCA):c.421C>A (p.Arg141Ser) rs35130237
NM_000023.3(SGCA):c.489delA (p.Leu164Serfs) rs753650776
NM_000023.3(SGCA):c.62C>T (p.Thr21Ile) rs199804735
NM_000023.3(SGCA):c.662G>A (p.Arg221His) rs138254713
NM_000023.3(SGCA):c.680C>G (p.Pro227Arg) rs201131924
NM_000023.3(SGCA):c.690G>C (p.Leu230=) rs139454982
NM_000023.3(SGCA):c.739G>A (p.Val247Met) rs143570936
NM_000023.3(SGCA):c.861G>A (p.Leu287=) rs1555569293
NM_000023.3(SGCA):c.933C>T (p.Val311=) rs1801191
NM_000026.2(ADSL):c.616G>T (p.Ala206Ser) rs148411623
NM_000026.3(ADSL):c.124C>T (p.Leu42=) rs2228415
NM_000026.3(ADSL):c.216C>T (p.Ile72=) rs145786986
NM_000026.3(ADSL):c.270T>C (p.Ala90=) rs143275316
NM_000026.3(ADSL):c.357+7G>A rs199993991
NM_000026.3(ADSL):c.649C>G (p.His217Asp) rs199761158
NM_000026.3(ADSL):c.702-7T>C rs201509960
NM_000026.3(ADSL):c.735A>T (p.Arg245=) rs143977255
NM_000026.3(ADSL):c.895A>G (p.Met299Val) rs34396910
NM_000027.3(AGA):c.200_201delAG (p.Glu67Alafs) rs386833420
NM_000027.3(AGA):c.281+13T>G rs34241758
NM_000027.3(AGA):c.436T>G (p.Leu146Val) rs146381591
NM_000030.2(AGXT):c.1020A>G (p.Ile340Met) rs4426527
NM_000030.2(AGXT):c.26C>A (p.Thr9Asn) rs115014558
NM_000030.2(AGXT):c.32C>T (p.Pro11Leu) rs34116584
NM_000030.2(AGXT):c.352C>T (p.Arg118Cys) rs376844297
NM_000030.2(AGXT):c.508G>A (p.Gly170Arg) rs121908529
NM_000030.2(AGXT):c.557C>T (p.Ala186Val) rs117195882
NM_000030.2(AGXT):c.590G>A (p.Arg197Gln) rs34664134
NM_000030.2(AGXT):c.654G>A (p.Ser218=) rs33958047
NM_000030.2(AGXT):c.65A>G (p.Asn22Ser) rs34885252
NM_000030.2(AGXT):c.836T>C (p.Ile279Thr) rs140992177
NM_000030.2(AGXT):c.866G>A (p.Arg289His) rs61729604
NM_000033.3(ABCD1):c.1166G>A (p.Arg389His) rs886044777
NM_000033.3(ABCD1):c.1252C>T (p.Arg418Trp) rs128624220
NM_000033.3(ABCD1):c.1489-6delC rs398123101
NM_000033.3(ABCD1):c.1771C>T (p.Arg591Trp) rs398123106
NM_000033.3(ABCD1):c.1866-10G>A rs398123108
NM_000033.3(ABCD1):c.1900G>A (p.Ala634Thr) rs782041940
NM_000033.3(ABCD1):c.2019C>T (p.Phe673=) rs76637913
NM_000033.3(ABCD1):c.249C>T (p.Phe83=) rs782628755
NM_000033.3(ABCD1):c.707G>A (p.Arg236His) rs201455322
NM_000033.3(ABCD1):c.887A>G (p.Tyr296Cys) rs797044610
NM_000033.3(ABCD1):c.901-10C>T rs2269365
NM_000035.3(ALDOB):c.360_363delCAAA (p.Asn120Lysfs) rs387906225
NM_000035.4(ALDOB):c.1000-3T>C rs369238799
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val) rs77718928
NM_000035.4(ALDOB):c.136A>T (p.Arg46Trp) rs41281039
NM_000035.4(ALDOB):c.156T>G (p.Thr52=) rs149671008
NM_000035.4(ALDOB):c.324+8C>G rs118168553
NM_000035.4(ALDOB):c.488C>T (p.Ala163Val) rs202210810
NM_000035.4(ALDOB):c.525C>T (p.Ala175=) rs144196914
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.799+6G>A rs141888548
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.1323+8G>A rs140176911
NM_000036.2(AMPD1):c.133C>T (p.Gln45Ter) rs17602729
NM_000036.2(AMPD1):c.1373G>A (p.Arg458His) rs121912682
NM_000036.2(AMPD1):c.1563G>A (p.Glu521=) rs80266556
NM_000036.2(AMPD1):c.1944C>T (p.Ile648=) rs34257411
NM_000036.2(AMPD1):c.242C>T (p.Pro81Leu) rs61752479
NM_000036.2(AMPD1):c.323G>A (p.Arg108His) rs61738827
NM_000036.2(AMPD1):c.433G>A (p.Val145Met) rs61741025
NM_000036.2(AMPD1):c.481-6delT rs727503806
NM_000036.2(AMPD1):c.959A>T (p.Lys320Ile) rs34526199
NM_000038.5(APC):c.1005A>G (p.Leu335=) rs3797704
NM_000038.5(APC):c.1312+3A>G rs863225311
NM_000038.5(APC):c.1458T>C (p.Tyr486=) rs2229992
NM_000038.5(APC):c.1635G>A (p.Ala545=) rs351771
NM_000038.5(APC):c.1695A>G (p.Glu565=) rs77921116
NM_000038.5(APC):c.1958+8T>C rs62626346
NM_000038.5(APC):c.2232T>G (p.Ser744=) rs145751759
NM_000038.5(APC):c.2250A>T (p.Pro750=) rs376526724
NM_000038.5(APC):c.2262T>G (p.Val754=) rs148987776
NM_000038.5(APC):c.2608C>T (p.Pro870Ser) rs33974176
NM_000038.5(APC):c.3352A>G (p.Asn1118Asp) rs140493115
NM_000038.5(APC):c.3386T>C (p.Leu1129Ser) rs143638171
NM_000038.5(APC):c.3468_3470delAGA (p.Glu1157del) rs386833391
NM_000038.5(APC):c.3471G>A (p.Glu1157=) rs143927847
NM_000038.5(APC):c.3732A>G (p.Gln1244=) rs74380081
NM_000038.5(APC):c.3927_3931delAAAGA (p.Glu1309Aspfs) rs121913224
NM_000038.5(APC):c.3949G>C (p.Glu1317Gln) rs1801166
NM_000038.5(APC):c.4212C>T (p.Ser1404=) rs144655979
NM_000038.5(APC):c.4348C>T (p.Arg1450Ter) rs121913332
NM_000038.5(APC):c.4479G>A (p.Thr1493=) rs41115
NM_000038.5(APC):c.5034G>A (p.Gly1678=) rs42427
NM_000038.5(APC):c.5265G>A (p.Ala1755=) rs34506289
NM_000038.5(APC):c.5268T>G (p.Ser1756=) rs866006
NM_000038.5(APC):c.5363G>A (p.Arg1788His) rs201472075
NM_000038.5(APC):c.5880G>A (p.Pro1960=) rs465899
NM_000038.5(APC):c.6724A>G (p.Ser2242Gly) rs201375478
NM_000038.5(APC):c.705A>G (p.Leu235=) rs147036141
NM_000038.5(APC):c.7201C>T (p.Leu2401=) rs2229994
NM_000038.5(APC):c.7504G>A (p.Gly2502Ser) rs2229995
NM_000038.5(APC):c.7704A>G (p.Gly2568=) rs35043160
NM_000038.5(APC):c.7862C>G (p.Ser2621Cys) rs72541816
NM_000038.6(APC):c.5465T>A (p.Val1822Asp) rs459552
NM_000041.2(APOE):c.526C>T (p.Arg176Cys) rs7412
NM_000041.4(APOE):c.388T>C (p.Cys130Arg) rs429358
NM_000046.3(ARSB):c.1126G>A (p.Val376Met) rs1071598
NM_000046.3(ARSB):c.1373A>G (p.Asn458Ser) rs144222167
NM_000046.3(ARSB):c.972A>G (p.Gly324=) rs72762973
NM_000046.4(ARSB):c.1072G>A (p.Val358Met) rs1065757
NM_000046.4(ARSB):c.1151G>A (p.Ser384Asn) rs25414
NM_000046.4(ARSB):c.1214G>A (p.Cys405Tyr) rs118203941
NM_000046.4(ARSB):c.1325C>T (p.Thr442Met) rs1057520739
NM_000046.4(ARSB):c.284G>A (p.Arg95Gln) rs118203942
NM_000046.4(ARSB):c.944G>A (p.Arg315Gln) rs727503809
NM_000046.4(ARSB):c.971G>T (p.Gly324Val) rs398123125
NM_000046.4(ARSB):c.98C>T (p.Ala33Val) rs201168448
NM_000048.3(ASL):c.1060C>T (p.Gln354Ter) rs367543005
NM_000048.3(ASL):c.1135C>T (p.Arg379Cys) rs28940287
NM_000048.3(ASL):c.1164C>T (p.His388=) rs75300185
NM_000048.3(ASL):c.332G>A (p.Arg111Gln) rs561367199
NM_000048.3(ASL):c.35G>A (p.Arg12Gln) rs145138923
NM_000048.3(ASL):c.556C>A (p.Arg186=) rs111407265
NM_000048.3(ASL):c.576G>A (p.Lys192=) rs115468878
NM_000048.3(ASL):c.602+13C>T rs12536292
NM_000049.2(ASPA):c.693C>T (p.Tyr231=) rs12948217
NM_000050.4(ASS1):c.106-10T>G rs73541957
NM_000050.4(ASS1):c.1087C>T (p.Arg363Trp) rs121908640
NM_000050.4(ASS1):c.1088G>A (p.Arg363Gln) rs771937610
NM_000050.4(ASS1):c.1134C>T (p.Asn378=) rs140715869
NM_000050.4(ASS1):c.1168G>A (p.Gly390Arg) rs121908641
NM_000050.4(ASS1):c.1194-1G>C rs727503814
NM_000050.4(ASS1):c.470G>A (p.Arg157His) rs121908637
NM_000050.4(ASS1):c.496-2A>G rs398123130
NM_000050.4(ASS1):c.501C>T (p.His167=) rs10901072
NM_000050.4(ASS1):c.597+8C>T rs77343702
NM_000050.4(ASS1):c.688+4T>C rs78432485
NM_000050.4(ASS1):c.765C>T (p.Asn255=) rs375579096
NM_000050.4(ASS1):c.787G>A (p.Val263Met) rs192838388
NM_000050.4(ASS1):c.794G>A (p.Arg265His) rs398123131
NM_000050.4(ASS1):c.805G>A (p.Val269Met) rs370595480
NM_000050.4(ASS1):c.836G>A (p.Arg279Gln) rs371265106
NM_000050.4(ASS1):c.876T>C (p.His292=) rs1057484
NM_000051.3(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.3(ATM):c.1066-6T>G rs201686625
NM_000051.3(ATM):c.1073A>G (p.Asn358Ser) rs149636614
NM_000051.3(ATM):c.1138T>A (p.Tyr380Asn) rs34083085
NM_000051.3(ATM):c.1229T>C (p.Val410Ala) rs56128736
NM_000051.3(ATM):c.1380G>C (p.Thr460=) rs145333518
NM_000051.3(ATM):c.146C>G (p.Ser49Cys) rs1800054
NM_000051.3(ATM):c.1541G>A (p.Gly514Asp) rs2235000
NM_000051.3(ATM):c.162T>C (p.Tyr54=) rs3218690
NM_000051.3(ATM):c.1636C>G (p.Leu546Val) rs2227924
NM_000051.3(ATM):c.1744T>C (p.Phe582Leu) rs2235006
NM_000051.3(ATM):c.1810C>T (p.Pro604Ser) rs2227922
NM_000051.3(ATM):c.2096A>G (p.Glu699Gly) rs147934285
NM_000051.3(ATM):c.2119T>C (p.Ser707Pro) rs4986761
NM_000051.3(ATM):c.2346A>G (p.Leu782=) rs730881285
NM_000051.3(ATM):c.2362A>C (p.Ser788Arg) rs641252
NM_000051.3(ATM):c.2377-6T>A rs876660963
NM_000051.3(ATM):c.2572T>C (p.Phe858Leu) rs1800056
NM_000051.3(ATM):c.2614C>T (p.Pro872Ser) rs3218673
NM_000051.3(ATM):c.2922-8T>A rs545892367
NM_000051.3(ATM):c.2932T>C (p.Ser978Pro) rs139552233
NM_000051.3(ATM):c.3014A>G (p.Asn1005Ser) rs146531614
NM_000051.3(ATM):c.320G>A (p.Cys107Tyr) rs142358238
NM_000051.3(ATM):c.334G>A (p.Ala112Thr) rs146382972
NM_000051.3(ATM):c.3383A>G (p.Gln1128Arg) rs2229020
NM_000051.3(ATM):c.3517T>C (p.Leu1173=) rs141460670
NM_000051.3(ATM):c.378T>A (p.Asp126Glu) rs2234997
NM_000051.3(ATM):c.3925G>A (p.Ala1309Thr) rs149711770
NM_000051.3(ATM):c.4138C>T (p.His1380Tyr) rs3092856
NM_000051.3(ATM):c.4258C>T (p.Leu1420Phe) rs1800058
NM_000051.3(ATM):c.4279G>A (p.Ala1427Thr) rs2229021
NM_000051.3(ATM):c.4388T>G (p.Phe1463Cys) rs138327406
NM_000051.3(ATM):c.4402G>A (p.Val1468Ile) rs369903995
NM_000051.3(ATM):c.4473C>T (p.Phe1491=) rs4988008
NM_000051.3(ATM):c.4578C>T (p.Pro1526=) rs1800889
NM_000051.3(ATM):c.4665C>T (p.Leu1555=) rs374431061
NM_000051.3(ATM):c.4949A>G (p.Asn1650Ser) rs55870064
NM_000051.3(ATM):c.5071A>C (p.Ser1691Arg) rs1800059
NM_000051.3(ATM):c.5352C>T (p.Asn1784=) rs140641762
NM_000051.3(ATM):c.544G>C (p.Val182Leu) rs3218707
NM_000051.3(ATM):c.5557G>A (p.Asp1853Asn) rs1801516
NM_000051.3(ATM):c.5558A>T (p.Asp1853Val) rs1801673
NM_000051.3(ATM):c.5762_5763insNG_009830.1:g.91138_91274 rs774925473
NM_000051.3(ATM):c.5793T>C (p.Ala1931=) rs3092910
NM_000051.3(ATM):c.6088A>G (p.Ile2030Val) rs145847315
NM_000051.3(ATM):c.6234C>T (p.Ser2078=) rs569483748
NM_000051.3(ATM):c.6443A>G (p.Lys2148Arg) rs730881382
NM_000051.3(ATM):c.6465G>A (p.Val2155=) rs140423883
NM_000051.3(ATM):c.6543G>T (p.Glu2181Asp) rs138828590
NM_000051.3(ATM):c.6820G>A (p.Ala2274Thr) rs567060474
NM_000051.3(ATM):c.6919C>T (p.Leu2307Phe) rs56009889
NM_000051.3(ATM):c.6988C>G (p.Leu2330Val) rs148432863
NM_000051.3(ATM):c.6995T>C (p.Leu2332Pro) rs4988111
NM_000051.3(ATM):c.7187C>G (p.Thr2396Ser) rs370559102
NM_000051.3(ATM):c.7313C>T (p.Thr2438Ile) rs147604227
NM_000051.3(ATM):c.7475T>G (p.Leu2492Arg) rs56399857
NM_000051.3(ATM):c.7638_7646delTAGAATTTC (p.Arg2547_Ser2549del) rs587776547
NM_000051.3(ATM):c.7757A>G (p.Asn2586Ser) rs587778079
NM_000051.3(ATM):c.7788+8G>T rs112775908
NM_000051.3(ATM):c.7928-10T>C rs188404773
NM_000051.3(ATM):c.8518T>C (p.Leu2840=) rs794727769
NM_000051.3(ATM):c.8987+3G>A rs56360226
NM_000052.6(ATP7A):c.1955G>A (p.Arg652Gln) rs143214563
NM_000052.6(ATP7A):c.2070A>G (p.Glu690=) rs146692150
NM_000052.6(ATP7A):c.4006A>G (p.Asn1336Asp) rs146651049
NM_000052.6(ATP7A):c.4226+11T>C rs200009243
NM_000053.3(ATP7B):c.1216T>G (p.Ser406Ala) rs1801243
NM_000053.3(ATP7B):c.1366G>C (p.Val456Leu) rs1801244
NM_000053.3(ATP7B):c.1607T>C (p.Val536Ala) rs138427376
NM_000053.3(ATP7B):c.1620C>T (p.Leu540=) rs145798966
NM_000053.3(ATP7B):c.1745_1746delTA (p.Ile582Argfs) rs753962912
NM_000053.3(ATP7B):c.1995G>A (p.Met665Ile) rs72552259
NM_000053.3(ATP7B):c.2175G>A (p.Arg725=) rs61733684
NM_000053.3(ATP7B):c.2310C>G (p.Leu770=) rs398123136
NM_000053.3(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027
NM_000053.3(ATP7B):c.2785A>G (p.Ile929Val) rs534960245
NM_000053.3(ATP7B):c.2855G>A (p.Arg952Lys) rs732774
NM_000053.3(ATP7B):c.2866-13G>C rs7325983
NM_000053.3(ATP7B):c.2955C>T (p.Cys985=) rs116587608
NM_000053.3(ATP7B):c.2972C>T (p.Thr991Met) rs41292782
NM_000053.3(ATP7B):c.2973G>A (p.Thr991=) rs1801246
NM_000053.3(ATP7B):c.2976C>A (p.Pro992=) rs746358240
NM_000053.3(ATP7B):c.3009G>A (p.Ala1003=) rs1801247
NM_000053.3(ATP7B):c.3060+16G>T rs76163470
NM_000053.3(ATP7B):c.3207C>A (p.His1069Gln) rs76151636
NM_000053.3(ATP7B):c.3369G>A (p.Pro1123=) rs61733679
NM_000053.3(ATP7B):c.3405A>G (p.Ala1135=) rs373081328
NM_000053.3(ATP7B):c.3419T>C (p.Val1140Ala) rs1801249
NM_000053.3(ATP7B):c.3443T>C (p.Ile1148Thr) rs60431989
NM_000053.3(ATP7B):c.3620A>G (p.His1207Arg) rs7334118
NM_000053.3(ATP7B):c.3664delG (p.Asp1222Thrfs) rs886042519
NM_000053.3(ATP7B):c.3889G>A (p.Val1297Ile) rs148399850
NM_000053.3(ATP7B):c.4051C>T (p.Gln1351Ter) rs786204578
NM_000053.3(ATP7B):c.4311G>A (p.Lys1437=) rs73202048
NM_000053.3(ATP7B):c.628A>G (p.Ile210Val) rs61733680
NM_000057.2(BLM):c.2407dupT (p.Trp803Leufs) rs367543012
NM_000057.3(BLM):c.1086C>T (p.Asp362=) rs375632163
NM_000057.3(BLM):c.11T>C (p.Val4Ala) rs144706057
NM_000057.3(BLM):c.1467G>A (p.Arg489=) rs56257041
NM_000057.3(BLM):c.1601A>G (p.Asn534Ser) rs35224686
NM_000057.3(BLM):c.1642C>T (p.Gln548Ter) rs200389141
NM_000057.3(BLM):c.1722A>G (p.Leu574=) rs28385011
NM_000057.3(BLM):c.191A>T (p.Asp64Val) rs140382474
NM_000057.3(BLM):c.1928G>A (p.Arg643His) rs12720097
NM_000057.3(BLM):c.2119C>T (p.Pro707Ser) rs146077918
NM_000057.3(BLM):c.2160C>T (p.Ile720=) rs28385028
NM_000057.3(BLM):c.2207_2212delATCTGAinsTAGATTC (p.Tyr736Leufs) rs113993962
NM_000057.3(BLM):c.2263A>G (p.Lys755Glu) rs142551229
NM_000057.3(BLM):c.2268A>G (p.Lys756=) rs146013879
NM_000057.3(BLM):c.254G>C (p.Arg85Thr) rs141503266
NM_000057.3(BLM):c.2555+7T>C rs3815003
NM_000057.3(BLM):c.2603C>T (p.Pro868Leu) rs2227935
NM_000057.3(BLM):c.261G>A (p.Lys87=) rs372668612
NM_000057.3(BLM):c.2695C>T (p.Arg899Ter) rs587779884
NM_000057.3(BLM):c.2838A>G (p.Thr946=) rs200850440
NM_000057.3(BLM):c.2919C>T (p.Tyr973=) rs181161119
NM_000057.3(BLM):c.2923delC (p.Gln975Lysfs) rs367543014
NM_000057.3(BLM):c.3102G>A (p.Thr1034=) rs2227933
NM_000057.3(BLM):c.3128C>A (p.Ala1043Asp) rs2229035
NM_000057.3(BLM):c.3531C>A (p.Ala1177=) rs2227934
NM_000057.3(BLM):c.3625T>A (p.Ser1209Thr) rs1801256
NM_000057.3(BLM):c.3751+9A>C rs774368488
NM_000057.3(BLM):c.3798T>G (p.Val1266=) rs138831180
NM_000057.3(BLM):c.3849G>A (p.Gln1283=) rs140524886
NM_000057.3(BLM):c.3879A>G (p.Glu1293=) rs28377085
NM_000057.3(BLM):c.3945C>T (p.Leu1315=) rs1063147
NM_000057.3(BLM):c.4076+4T>G rs183176301
NM_000057.3(BLM):c.4077-10C>T rs145310008
NM_000057.3(BLM):c.410A>G (p.Lys137Arg) rs28384988
NM_000057.3(BLM):c.893C>T (p.Thr298Met) rs28384991
NM_000059.3(BRCA2):c.-11C>T rs76874770
NM_000059.3(BRCA2):c.-15A>C rs138705202
NM_000059.3(BRCA2):c.10102T>C (p.Ser3368Pro) rs786205482
NM_000059.3(BRCA2):c.10110G>A (p.Arg3370=) rs28897762
NM_000059.3(BRCA2):c.1011C>T (p.Asn337=) rs41293473
NM_000059.3(BRCA2):c.10121C>T (p.Thr3374Ile) rs56309455
NM_000059.3(BRCA2):c.10154G>A (p.Arg3385His) rs80358398
NM_000059.3(BRCA2):c.1021T>C (p.Cys341Arg) rs55833327
NM_000059.3(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426
NM_000059.3(BRCA2):c.1040A>G (p.Gln347Arg) rs55800493
NM_000059.3(BRCA2):c.1114A>C (p.Asn372His) rs144848
NM_000059.3(BRCA2):c.1123C>T (p.Pro375Ser) rs80358408
NM_000059.3(BRCA2):c.1167G>A (p.Pro389=) rs148607710
NM_000059.3(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046
NM_000059.3(BRCA2):c.1275A>G (p.Glu425=) rs34355306
NM_000059.3(BRCA2):c.1385A>G (p.Glu462Gly) rs56403624
NM_000059.3(BRCA2):c.1395A>C (p.Val465=) rs11571641
NM_000059.3(BRCA2):c.175C>G (p.Pro59Ala) rs56091799
NM_000059.3(BRCA2):c.1786G>C (p.Asp596His) rs56328701
NM_000059.3(BRCA2):c.1788T>C (p.Asp596=) rs11571642
NM_000059.3(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710
NM_000059.3(BRCA2):c.1798T>C (p.Tyr600His) rs75419644
NM_000059.3(BRCA2):c.1909+9_1909+10delGT rs527732001
NM_000059.3(BRCA2):c.1911T>C (p.Gly637=) rs11571652
NM_000059.3(BRCA2):c.1938C>T (p.Ser646=) rs28897711
NM_000059.3(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712
NM_000059.3(BRCA2):c.2138A>T (p.Gln713Leu) rs55816687
NM_000059.3(BRCA2):c.2145A>G (p.Gly715=) rs112566179
NM_000059.3(BRCA2):c.231T>G (p.Thr77=) rs114446594
NM_000059.3(BRCA2):c.2786T>C (p.Leu929Ser) rs2227943
NM_000059.3(BRCA2):c.2803G>A (p.Asp935Asn) rs28897716
NM_000059.3(BRCA2):c.280C>T (p.Pro94Ser) rs80358531
NM_000059.3(BRCA2):c.2883G>A (p.Gln961=) rs11571655
NM_000059.3(BRCA2):c.2926_2927delTCinsAT (p.Ser976Ile) rs276174831
NM_000059.3(BRCA2):c.2944A>C (p.Ile982Leu) rs28897717
NM_000059.3(BRCA2):c.2960A>T (p.Asn987Ile) rs2227944
NM_000059.3(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944
NM_000059.3(BRCA2):c.3173A>G (p.Lys1058Arg) rs431825302
NM_000059.3(BRCA2):c.322A>C (p.Asn108His) rs80358567
NM_000059.3(BRCA2):c.3264T>C (p.Pro1088=) rs36060526
NM_000059.3(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600
NM_000059.3(BRCA2):c.3516G>A (p.Ser1172=) rs1799952
NM_000059.3(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485
NM_000059.3(BRCA2):c.3880T>C (p.Leu1294=) rs786201236
NM_000059.3(BRCA2):c.4061C>T (p.Thr1354Met) rs80358656
NM_000059.3(BRCA2):c.4068G>A (p.Leu1356=) rs28897724
NM_000059.3(BRCA2):c.4071A>C (p.Leu1357=) rs140556653
NM_000059.3(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000059.3(BRCA2):c.4241C>T (p.Thr1414Met) rs70953664
NM_000059.3(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727
NM_000059.3(BRCA2):c.425G>A (p.Ser142Asn) rs397507713
NM_000059.3(BRCA2):c.4584C>T (p.Ser1528=) rs80359788
NM_000059.3(BRCA2):c.4614T>C (p.Ser1538=) rs45520945
NM_000059.3(BRCA2):c.4681C>A (p.His1561Asn) rs2219594
NM_000059.3(BRCA2):c.502C>A (p.Pro168Thr) rs80358726
NM_000059.3(BRCA2):c.516+14C>T rs182828913
NM_000059.3(BRCA2):c.517-19C>T rs11571623
NM_000059.3(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415
NM_000059.3(BRCA2):c.5199C>T (p.Ser1733=) rs28897734
NM_000059.3(BRCA2):c.5418A>G (p.Glu1806=) rs34351119
NM_000059.3(BRCA2):c.5612G>A (p.Ser1871Asn) rs80358782
NM_000059.3(BRCA2):c.5640T>G (p.Asn1880Lys) rs11571657
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048
NM_000059.3(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117
NM_000059.3(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375
NM_000059.3(BRCA2):c.5946delT (p.Ser1982Argfs) rs80359550
NM_000059.3(BRCA2):c.6057C>T (p.Asn2019=) rs147961615
NM_000059.3(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954
NM_000059.3(BRCA2):c.6143A>T (p.Asn2048Ile) rs80358853
NM_000059.3(BRCA2):c.6220C>A (p.His2074Asn) rs34309943
NM_000059.3(BRCA2):c.6288T>G (p.Pro2096=) rs372527810
NM_000059.3(BRCA2):c.6323G>A (p.Arg2108His) rs35029074
NM_000059.3(BRCA2):c.6347A>G (p.His2116Arg) rs55953736
NM_000059.3(BRCA2):c.6412G>T (p.Val2138Phe) rs11571659
NM_000059.3(BRCA2):c.6513G>T (p.Val2171=) rs206076
NM_000059.3(BRCA2):c.67+16A>T rs529148674
NM_000059.3(BRCA2):c.68-7T>A rs81002830
NM_000059.3(BRCA2):c.6803G>A (p.Arg2268Lys) rs80358906
NM_000059.3(BRCA2):c.6877T>C (p.Phe2293Leu) rs80358912
NM_000059.3(BRCA2):c.695A>G (p.Tyr232Cys) rs372188754
NM_000059.3(BRCA2):c.7007+53G>A rs56014558
NM_000059.3(BRCA2):c.7008-62A>G rs76584943
NM_000059.3(BRCA2):c.7017G>C (p.Lys2339Asn) rs45574331
NM_000059.3(BRCA2):c.7020A>G (p.Glu2340=) rs886042269
NM_000059.3(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008
NM_000059.3(BRCA2):c.7319A>G (p.His2440Arg) rs4986860
NM_000059.3(BRCA2):c.7397C= (p.Ala2466=) rs169547
NM_000059.3(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707
NM_000059.3(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624
NM_000059.3(BRCA2):c.7626G>A (p.Thr2542=) rs61754138
NM_000059.3(BRCA2):c.7805+6C>G rs81002819
NM_000059.3(BRCA2):c.7865A>G (p.Asn2622Ser) rs142899125
NM_000059.3(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747
NM_000059.3(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749
NM_000059.3(BRCA2):c.8460A>C (p.Val2820=) rs9590940
NM_000059.3(BRCA2):c.8487+19A>G rs11571743
NM_000059.3(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746
NM_000059.3(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747
NM_000059.3(BRCA2):c.8573A>G (p.Gln2858Arg) rs80359114
NM_000059.3(BRCA2):c.865A>C (p.Asn289His) rs766173
NM_000059.3(BRCA2):c.8668C>A (p.Leu2890Ile) rs80359127
NM_000059.3(BRCA2):c.8807T>C (p.Leu2936Ser) rs398122714
NM_000059.3(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047
NM_000059.3(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000059.3(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769
NM_000059.3(BRCA2):c.9235G>A (p.Val3079Ile) rs55933907
NM_000059.3(BRCA2):c.9257-16T>C rs11571818
NM_000059.3(BRCA2):c.9270C>T (p.Phe3090=) rs587780873
NM_000059.3(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759
NM_000059.3(BRCA2):c.9634G>C (p.Gly3212Arg) rs55775473
NM_000059.3(BRCA2):c.9720T>C (p.Val3240=) rs80359810
NM_000059.3(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831
NM_000059.3(BRCA2):c.9843A>G (p.Pro3281=) rs11571832
NM_000059.3(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817
NM_000059.3(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833
NM_000060.2(BTD):c.933delT (p.Ser311Argfs) rs397514395
NM_000060.4(BTD):c.1241_1252delATCTCCACGTCT (p.Tyr414_Val417del) rs397514404
NM_000061.2(BTK):c.141+11C>T rs138411530
NM_000061.2(BTK):c.1909-9T>C rs782702231
NM_000061.2(BTK):c.615G>T (p.Glu205Asp) rs35877704
NM_000068.3(CACNA1A):c.1785-6C>T rs201350764
NM_000068.3(CACNA1A):c.699A>G (p.Leu233=) rs749587119
NM_000069.2(CACNA1S):c.3716G>A (p.Arg1239His) rs28930068
NM_000070.2(CAPN3):c.1001A>T (p.His334Leu) rs749863676
NM_000070.2(CAPN3):c.1017G>A (p.Thr339=) rs141934227
NM_000070.2(CAPN3):c.1020G>T (p.Gly340=) rs372401631
NM_000070.2(CAPN3):c.1029+3A>G rs28364442
NM_000070.2(CAPN3):c.1063C>T (p.Arg355Trp) rs749099493
NM_000070.2(CAPN3):c.1069C>T (p.Arg357Trp) rs774273767
NM_000070.2(CAPN3):c.1070G>A (p.Arg357Gln) rs988027905
NM_000070.2(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000070.2(CAPN3):c.1194-9A>G rs374665929
NM_000070.2(CAPN3):c.1227A>C (p.Thr409=) rs111806046
NM_000070.2(CAPN3):c.1227A>G (p.Thr409=) rs111806046
NM_000070.2(CAPN3):c.1250C>T (p.Thr417Met) rs200646556
NM_000070.2(CAPN3):c.1263G>A (p.Leu421=) rs372450879
NM_000070.2(CAPN3):c.1302C>T (p.Asn434=) rs751429914
NM_000070.2(CAPN3):c.1303G>A (p.Glu435Lys) rs149914792
NM_000070.2(CAPN3):c.1309C>T (p.Arg437Cys) rs777483913
NM_000070.2(CAPN3):c.1318C>T (p.Arg440Trp) rs777323132
NM_000070.2(CAPN3):c.1319G>A rs376107921
NM_000070.2(CAPN3):c.1333G>A (p.Gly445Arg) rs773827877
NM_000070.2(CAPN3):c.1342C>T (p.Arg448Cys) rs776043976
NM_000070.2(CAPN3):c.1343G>A (p.Arg448His) rs863224956
NM_000070.2(CAPN3):c.1350C>T (p.Phe450=) rs144944366
NM_000070.2(CAPN3):c.1381C>T (p.Arg461Cys) rs1274808359
NM_000070.2(CAPN3):c.1435A>G (p.Ser479Gly) rs201736037
NM_000070.2(CAPN3):c.145C>T (p.Arg49Cys) rs794726871
NM_000070.2(CAPN3):c.1466G>A (p.Arg489Gln) rs147764579
NM_000070.2(CAPN3):c.1468C>T (p.Arg490Trp) rs141656719
NM_000070.2(CAPN3):c.1469G>A (p.Arg490Gln) rs121434548
NM_000070.2(CAPN3):c.1477C>T (p.Arg493Trp) rs557164942
NM_000070.2(CAPN3):c.1505T>C (p.Ile502Thr) rs148044781
NM_000070.2(CAPN3):c.1517T>C (p.Ile506Thr) rs1555422136
NM_000070.2(CAPN3):c.1543G>A (p.Gly515Arg) rs150226817
NM_000070.2(CAPN3):c.1584C>T (p.Asn528=) rs530529988
NM_000070.2(CAPN3):c.1621C>T (p.Arg541Trp) rs142004418
NM_000070.2(CAPN3):c.1622G>A (p.Arg541Gln) rs398123143
NM_000070.2(CAPN3):c.1636C>T (p.Arg546Cys) rs372438001
NM_000070.2(CAPN3):c.1668C>T (p.Ile556=) rs199884116
NM_000070.2(CAPN3):c.1715G>A (p.Arg572Gln) rs121434544
NM_000070.2(CAPN3):c.1743_1744delTG (p.Glu582Glyfs) rs886042573
NM_000070.2(CAPN3):c.1746-20C>G rs201892814
NM_000070.2(CAPN3):c.1746-7C>G rs199978708
NM_000070.2(CAPN3):c.1795dupA (p.Thr599Asnfs) rs80338803
NM_000070.2(CAPN3):c.1801-1G>A rs886043752
NM_000070.2(CAPN3):c.1818G>A (p.Ser606=) rs28364528
NM_000070.2(CAPN3):c.1830C>T (p.Asn610=) rs202019404
NM_000070.2(CAPN3):c.183C>T (p.Phe61=) rs146069933
NM_000070.2(CAPN3):c.1993-1G>A rs369552114
NM_000070.2(CAPN3):c.2071G>A (p.Gly691Arg) rs140425651
NM_000070.2(CAPN3):c.2092C>T (p.Arg698Cys) rs764370512
NM_000070.2(CAPN3):c.2109C>T (p.Leu703=) rs371577901
NM_000070.2(CAPN3):c.2120A>G (p.Asp707Gly) rs200379491
NM_000070.2(CAPN3):c.2148G>T (p.Glu716Asp) rs770894443
NM_000070.2(CAPN3):c.2185-2A>G rs886041335
NM_000070.2(CAPN3):c.2235C>T (p.Tyr745=) rs147774793
NM_000070.2(CAPN3):c.2243G>A (p.Arg748Gln) rs587780290
NM_000070.2(CAPN3):c.2257G>A (p.Asp753Asn) rs146923842
NM_000070.2(CAPN3):c.2258_2260delACG (p.Asp753del) rs886043333
NM_000070.2(CAPN3):c.2263+1G>A rs886044475
NM_000070.2(CAPN3):c.2279dupA (p.Asn760Lysfs) rs775130589
NM_000070.2(CAPN3):c.2288A>G (p.Tyr763Cys) rs764459544
NM_000070.2(CAPN3):c.2290delG (p.Asp764Thrfs) rs886044527
NM_000070.2(CAPN3):c.2292C>T (p.Asp764=) rs187279903
NM_000070.2(CAPN3):c.2306G>A (p.Arg769Gln) rs80338802
NM_000070.2(CAPN3):c.2329A>G (p.Ile777Val) rs149969786
NM_000070.2(CAPN3):c.232C>A (p.Pro78Thr) rs138867099
NM_000070.2(CAPN3):c.2332G>A (p.Asp778Asn) rs115311625
NM_000070.2(CAPN3):c.2338G>C (p.Asp780His) rs778768583
NM_000070.2(CAPN3):c.2362_2363delAGinsTCATCT (p.Arg788Serfs) rs1555423217
NM_000070.2(CAPN3):c.2380+12delA rs28364538
NM_000070.2(CAPN3):c.2393C>A (p.Ala798Glu) rs149095128
NM_000070.2(CAPN3):c.2433T>C (p.Val811=) rs28364543
NM_000070.2(CAPN3):c.2440-1G>A rs886044052
NM_000070.2(CAPN3):c.245C>T (p.Pro82Leu) rs886042478
NM_000070.2(CAPN3):c.270C>T (p.Ser90=) rs753686702
NM_000070.2(CAPN3):c.318C>T (p.Cys106=) rs117609395
NM_000070.2(CAPN3):c.319G>A (p.Glu107Lys) rs1801505
NM_000070.2(CAPN3):c.327_328dupCC (p.Arg110Profs) rs797045427
NM_000070.2(CAPN3):c.338T>C (p.Ile113Thr) rs747026964
NM_000070.2(CAPN3):c.371G>C (p.Gly124Ala) rs587780291
NM_000070.2(CAPN3):c.402delC (p.Ile135Leufs) rs746935735
NM_000070.2(CAPN3):c.479C>G (p.Ala160Gly) rs17592
NM_000070.2(CAPN3):c.495C>T (p.Phe165=) rs1801324
NM_000070.2(CAPN3):c.503G>A (p.Trp168Ter) rs1555420462
NM_000070.2(CAPN3):c.525C>T (p.Asp175=) rs144383442
NM_000070.2(CAPN3):c.551C>T (p.Thr184Met) rs35889956
NM_000070.2(CAPN3):c.552G>A (p.Thr184=) rs147808529
NM_000070.2(CAPN3):c.566T>C (p.Leu189Pro) rs758795961
NM_000070.2(CAPN3):c.580delT (p.Ser194Profs) rs398123149
NM_000070.2(CAPN3):c.606T>C (p.Ser202=) rs17593
NM_000070.2(CAPN3):c.62G>A (p.Gly21Glu) rs28364364
NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del) rs863224965
NM_000070.2(CAPN3):c.701G>A (p.Gly234Glu) rs1555420634
NM_000070.2(CAPN3):c.717delT (p.Phe239Leufs) rs776059672
NM_000070.2(CAPN3):c.802-9G>A rs761211705
NM_000070.2(CAPN3):c.865C>T (p.Arg289Trp) rs528417986
NM_000070.2(CAPN3):c.930T>C (p.Asp310=) rs150356488
NM_000070.2(CAPN3):c.946-4_946-1delACAG rs766156798
NM_000070.2(CAPN3):c.956C>T (p.Pro319Leu) rs121434547
NM_000070.2(CAPN3):c.96T>C (p.Thr32=) rs1801496
NM_000070.2(CAPN3):c.984C>T (p.Cys328=) rs28364441
NM_000070.3(CAPN3):c.1256A>G (p.Asp419Gly) rs886042895
NM_000070.3(CAPN3):c.549delA (p.Thr184Argfs) rs80338800
NM_000071.2(CBS):c.1058C>T (p.Thr353Met) rs121964972
NM_000071.2(CBS):c.1105C>T (p.Arg369Cys) rs117687681
NM_000071.2(CBS):c.1145+7C>T rs201158177
NM_000071.2(CBS):c.1218delG (p.Lys406Asnfs) rs794727083
NM_000071.2(CBS):c.1257G>A (p.Leu419=) rs138432416
NM_000071.2(CBS):c.1316G>A (p.Arg439Gln) rs756467921
NM_000071.2(CBS):c.1330G>A (p.Asp444Asn) rs28934891
NM_000071.2(CBS):c.28delG (p.Val10Trpfs) rs779250698
NM_000071.2(CBS):c.304A>C (p.Lys102Gln) rs34040148
NM_000071.2(CBS):c.325T>C (p.Cys109Arg) rs778220779
NM_000071.2(CBS):c.374G>A (p.Arg125Gln) rs781444670
NM_000071.2(CBS):c.430G>A (p.Glu144Lys) rs121964966
NM_000071.2(CBS):c.435G>A (p.Pro145=) rs148782895
NM_000071.2(CBS):c.502G>A (p.Val168Met) rs121964970
NM_000071.2(CBS):c.52C>T (p.Arg18Cys) rs201827340
NM_000071.2(CBS):c.536_553del18 (p.Asp179_Leu184del) rs794727835
NM_000071.2(CBS):c.573G>A (p.Thr191=) rs73906420
NM_000071.2(CBS):c.785C>T (p.Thr262Met) rs149119723
NM_000071.2(CBS):c.904G>A (p.Glu302Lys) rs779270933
NM_000071.2(CBS):c.939G>A (p.Thr313=) rs2228298
NM_000071.2(CBS):c.954+8G>A rs76292057
NM_000074.2(CD40LG):c.-191A>C rs36206512
NM_000074.2(CD40LG):c.655G>A (p.Gly219Arg) rs148594123
NM_000076.2(CDKN1C):c.444G>A (p.Pro148=) rs878853625
NM_000076.2(CDKN1C):c.528G>C (p.Ala176=) rs533485167
NM_000076.2(CDKN1C):c.555T>C (p.Ala185=) rs191294997
NM_000076.2(CDKN1C):c.567_572delTCCGGC (p.Ala193_Pro194del) rs878853632
NM_000076.2(CDKN1C):c.600_605delAGCCCC (p.Ala215_Pro216del) rs1060503860
NM_000076.2(CDKN1C):c.612G>A (p.Pro204=) rs794726872
NM_000076.2(CDKN1C):c.624_629delGGCCCC (p.Ala215_Pro216del) rs759134767
NM_000076.2(CDKN1C):c.624_629dupGGCCCC (p.Pro216_Asp217insAlaPro) rs759134767
NM_000076.2(CDKN1C):c.669C>T (p.Ser223=) rs540923047
NM_000076.2(CDKN1C):c.702C>G (p.Gly234=) rs546016935
NM_000077.4(CDKN2A):c.-25C>T rs144481587
NM_000077.4(CDKN2A):c.301G>T (p.Gly101Trp) rs104894094
NM_000077.4(CDKN2A):c.379G>T (p.Ala127Ser) rs6413464
NM_000077.4(CDKN2A):c.442G>A (p.Ala148Thr) rs3731249
NM_000078.2(CETP):c.940G>A (p.Glu314Lys) rs140547417
NM_000079.3(CHRNA1):c.1139T>C (p.Met380Thr) rs149292107
NM_000079.3(CHRNA1):c.948C>A (p.Ile316=) rs141733086
NM_000080.3(CHRNE):c.*6A>G rs55806270
NM_000080.3(CHRNE):c.103T>C (p.Tyr35His) rs144169073
NM_000080.3(CHRNE):c.1402G>C (p.Val468Leu) rs139171143
NM_000080.3(CHRNE):c.1425C>T (p.Leu475=) rs151193377
NM_000080.3(CHRNE):c.465C>T (p.Phe155=) rs139625105
NM_000080.4(CHRNE):c.1480_*48del51insC rs1555546038
NM_000081.3(LYST):c.368A>G (p.His123Arg)
NM_000081.3(LYST):c.5945C>T (p.Thr1982Ile) rs146591126
NM_000081.3(LYST):c.7780+2C>T rs760108842
NM_000082.3(ERCC8):c.1080T>C (p.Ala360=) rs4647130
NM_000082.3(ERCC8):c.300C>G (p.Tyr100Ter) rs143367518
NM_000082.3(ERCC8):c.839C>A (p.Thr280Lys) rs61754098
NM_000083.2(CLCN1):c.1283T>C (p.Phe428Ser) rs774843953
NM_000083.2(CLCN1):c.1392C>T (p.Phe464=) rs201919331
NM_000083.2(CLCN1):c.568G>A (p.Gly190Arg) rs369773321
NM_000083.2(CLCN1):c.568_569delGGinsTC (p.Gly190Ser) rs797045032
NM_000083.2(CLCN1):c.899G>A (p.Arg300Gln) rs118066140
NM_000087.3(CNGA1):c.312A>G (p.Glu104=) rs76061451
NM_000087.3(CNGA1):c.352G>A (p.Asp118Asn) rs28642966
NM_000088.3(COL1A1):c.1002+10G>T rs368316440
NM_000088.3(COL1A1):c.1042G>A (p.Ala348Thr) rs139955975
NM_000088.3(COL1A1):c.1300-8C>T rs41317361
NM_000088.3(COL1A1):c.1615-4C>A rs41316657
NM_000088.3(COL1A1):c.1821C>T (p.Val607=) rs41316667
NM_000088.3(COL1A1):c.1873G>A (p.Ala625Thr) rs149561221
NM_000088.3(COL1A1):c.1882G>A (p.Ala628Thr) rs113950465
NM_000088.3(COL1A1):c.1930-14T>C rs2696247
NM_000088.3(COL1A1):c.1984-5C>A rs66592376
NM_000088.3(COL1A1):c.2161C>T (p.Gln721Ter) rs193922145
NM_000088.3(COL1A1):c.2508C>T (p.Gly836=) rs200620805
NM_000088.3(COL1A1):c.2595C>T (p.Arg865=) rs117672175
NM_000088.3(COL1A1):c.2838T>G (p.Pro946=) rs1555572418
NM_000088.3(COL1A1):c.3060C>T (p.Ala1020=) rs751239116
NM_000088.3(COL1A1):c.3123C>T (p.Pro1041=) rs145608939
NM_000088.3(COL1A1):c.3226G>A (p.Gly1076Ser) rs67394386
NM_000088.3(COL1A1):c.3243T>C (p.Val1081=) rs1800217
NM_000088.3(COL1A1):c.3258C>T (p.Pro1086=) rs200319927
NM_000088.3(COL1A1):c.4018G>A (p.Gly1340Ser) rs147936946
NM_000088.3(COL1A1):c.4179C>T (p.Ser1393=) rs1800219
NM_000088.3(COL1A1):c.4249-12G>A rs2249492
NM_000088.3(COL1A1):c.613C>G (p.Pro205Ala) rs72667032
NM_000088.3(COL1A1):c.627C>T (p.Gly209=) rs201136122
NM_000088.3(COL1A1):c.904-9G>T rs141726413
NM_000089.3(COL1A2):c.2260G>T (p.Gly754Cys) rs72658177
NM_000089.3(COL1A2):c.2904C>T (p.Pro968=) rs142352627
NM_000089.3(COL1A2):c.2944-4A>T rs143220941
NM_000089.3(COL1A2):c.304C>T (p.Pro102Ser) rs189557655
NM_000089.3(COL1A2):c.3139G>A (p.Val1047Met) rs35820023
NM_000089.3(COL1A2):c.594+5A>T rs200744314
NM_000089.3(COL1A2):c.82-12A>G rs143689469
NM_000089.3(COL1A2):c.948C>T (p.Gly316=) rs34511999
NM_000090.3(COL3A1):c.1348-4dupT rs758567906
NM_000090.3(COL3A1):c.1815+5G>A rs146652498
NM_000090.3(COL3A1):c.1927T>C (p.Leu643=) rs41263757
NM_000090.3(COL3A1):c.2550T>C (p.Pro850=) rs794727586
NM_000090.3(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210
NM_000090.3(COL3A1):c.3818A>G (p.Lys1273Arg) rs144614075
NM_000090.3(COL3A1):c.4021G>A (p.Gly1341Ser) rs140646380
NM_000090.3(COL3A1):c.4086C>T (p.Ser1362=) rs779774302
NM_000090.3(COL3A1):c.812G>A (p.Arg271Gln) rs112185887
NM_000091.4(COL4A3):c.1352A>G (p.His451Arg) rs11677877
NM_000091.4(COL4A3):c.3258G>A (p.Gly1086=) rs147085074
NM_000091.4(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500
NM_000091.4(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125
NM_000091.4(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532
NM_000092.4(COL4A4):c.1634G>C (p.Gly545Ala) rs1800516
NM_000092.4(COL4A4):c.195T>C (p.Gly65=) rs201278620
NM_000092.4(COL4A4):c.2367A>T (p.Gly789=) rs56247709
NM_000092.4(COL4A4):c.4185G>A (p.Gly1395=) rs55978207
NM_000093.4(COL5A1):c.1077G>A (p.Glu359=) rs201166370
NM_000093.4(COL5A1):c.1158C>T (p.Ser386=) rs61729497
NM_000093.4(COL5A1):c.1383C>T (p.Ile461=) rs61736827
NM_000093.4(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045
NM_000093.4(COL5A1):c.1752G>A (p.Glu584=) rs376865199
NM_000093.4(COL5A1):c.1896C>T (p.Phe632=) rs376478864
NM_000093.4(COL5A1):c.194G>A (p.Arg65Gln) rs116003670
NM_000093.4(COL5A1):c.2096C>T (p.Thr699Met) rs142313124
NM_000093.4(COL5A1):c.240C>T (p.Asp80=) rs79724538
NM_000093.4(COL5A1):c.2593-3C>T rs199895142
NM_000093.4(COL5A1):c.2695G>A (p.Gly899Ser) rs149964491
NM_000093.4(COL5A1):c.3069C>T (p.Pro1023=) rs139070070
NM_000093.4(COL5A1):c.3204+3G>A rs202054108
NM_000093.4(COL5A1):c.3474+7C>T rs550497696
NM_000093.4(COL5A1):c.378G>T (p.Gln126His) rs145178917
NM_000093.4(COL5A1):c.3906+10C>T rs183881247
NM_000093.4(COL5A1):c.4135C>T (p.Pro1379Ser) rs61739195
NM_000093.4(COL5A1):c.4230+5C>T rs142248898
NM_000093.4(COL5A1):c.4410C>T (p.Pro1470=) rs41310953
NM_000093.4(COL5A1):c.4482G>A (p.Pro1494=) rs2228560
NM_000093.4(COL5A1):c.4906G>A (p.Ala1636Thr) rs113452150
NM_000093.4(COL5A1):c.5350G>A (p.Ala1784Thr) rs143859495
NM_000093.4(COL5A1):c.573C>T (p.Leu191=) rs116715381
NM_000093.4(COL5A1):c.804C>T (p.Gly268=) rs147729713
NM_000093.4(COL5A1):c.82_84dupCTG (p.Leu28_Trp29insLeu) rs773994971
NM_000093.4(COL5A1):c.996C>T (p.Asp332=) rs144763302
NM_000094.3(COL7A1):c.5910C>T (p.Phe1970=) rs141290741
NM_000095.2(COMP):c.218-14C>T rs150008764
NM_000095.2(COMP):c.511G>A (p.Ala171Thr) rs115338183
NM_000096.3(CP):c.1652C>T (p.Thr551Ile) rs61733458
NM_000096.3(CP):c.2286-15G>T rs34861155
NM_000096.3(CP):c.2522C>G (p.Thr841Arg) rs56033670
NM_000096.3(CP):c.2571C>T (p.Tyr857=) rs151304828
NM_000096.3(CP):c.2684G>C (p.Gly895Ala) rs139633388
NM_000098.2(CPT2):c.1055T>G (p.Phe352Cys) rs2229291
NM_000098.2(CPT2):c.1342T>C (p.Phe448Leu) rs74315297
NM_000098.2(CPT2):c.1422C>A (p.Ala474=) rs192779168
NM_000098.2(CPT2):c.1634A>C (p.Glu545Ala) rs17848485
NM_000098.2(CPT2):c.1646G>A (p.Gly549Asp) rs186044004
NM_000098.2(CPT2):c.1763C>G (p.Ser588Cys) rs1871748
NM_000098.2(CPT2):c.1806T>C (p.Phe602=) rs147953465
NM_000098.2(CPT2):c.1939A>G (p.Met647Val) rs1799822
NM_000098.2(CPT2):c.338C>T (p.Ser113Leu) rs74315294
NM_000098.2(CPT2):c.371G>C (p.Arg124Pro) rs1131691925
NM_000098.2(CPT2):c.511C>T (p.Leu171=) rs2229292
NM_000098.2(CPT2):c.534_558del25insT (p.Leu178_Ile186delinsPhe) rs515726173
NM_000098.2(CPT2):c.680C>T (p.Pro227Leu) rs74315298
NM_000098.2(CPT2):c.886C>T (p.Arg296Ter) rs727503887
NM_000100.3(CSTB):c.*7C>G rs201576714
NM_000100.3(CSTB):c.121G>A (p.Val41Met) rs143153487
NM_000100.3(CSTB):c.15G>T (p.Ala5=) rs4533
NM_000100.3(CSTB):c.67-1G>C rs147484110
NM_000101.3(CYBA):c.179A>C (p.Lys60Thr) rs11547387
NM_000101.3(CYBA):c.204-4C>A rs377055239
NM_000101.3(CYBA):c.403G>A (p.Glu135Lys) rs114610092
NM_000101.3(CYBA):c.527_529dupCGG (p.Ala176_Gly177insAla) rs760275837
NM_000104.3(CYP1B1):c.-1-12C>T rs2617266
NM_000104.3(CYP1B1):c.1103G>A (p.Arg368His) rs79204362
NM_000104.3(CYP1B1):c.1358A>G (p.Asn453Ser) rs1800440
NM_000104.3(CYP1B1):c.155C>T (p.Pro52Leu) rs201824781
NM_000104.3(CYP1B1):c.241T>A (p.Tyr81Asn) rs9282671
NM_000104.3(CYP1B1):c.564C>A (p.Gly188=) rs9341247
NM_000104.3(CYP1B1):c.685G>A (p.Glu229Lys) rs57865060
NM_000104.3(CYP1B1):c.729G>C (p.Val243=) rs9341249
NM_000104.3(CYP1B1):c.868dupC (p.Arg290Profs) rs587778875
NM_000106.5(CYP2D6):c.454delT (p.Trp152Glyfs) rs5030655
NM_000106.5(CYP2D6):c.505G>T (p.Gly169Ter) rs5030865
NM_000106.5(CYP2D6):c.506-1G>A rs3892097
NM_000106.5(CYP2D6):c.775delA (p.Arg259Glyfs) rs35742686
NM_000106.6(CYP2D6):c.100C>T (p.Pro34Ser) rs1065852
NM_000106.6(CYP2D6):c.1457G>C (p.Ser486Thr) rs1135840
NM_000108.4(DLD):c.439-7T>C rs10263341
NM_000108.4(DLD):c.543A>T (p.Ile181=) rs61749952
NM_000108.4(DLD):c.685-14T>A rs80111449
NM_000109.3(DMD):c.1294G>A (p.Glu432Lys) rs189143447
NM_000109.3(DMD):c.1700T>C (p.Leu567Pro) rs370644567
NM_000109.3(DMD):c.7547G>A (p.Arg2516His) rs151244052
NM_000109.3(DMD):c.9658T>C (p.Phe3220Leu) rs141392048
NM_000110.3(DPYD):c.1601G>A (p.Ser534Asn) rs1801158
NM_000110.3(DPYD):c.1627A>G (p.Ile543Val) rs1801159
NM_000110.3(DPYD):c.1905+1G>A rs3918290
NM_000110.3(DPYD):c.2194G>A (p.Val732Ile) rs1801160
NM_000110.3(DPYD):c.2303C>A (p.Thr768Lys) rs56005131
NM_000110.3(DPYD):c.496A>G (p.Met166Val) rs2297595
NM_000110.3(DPYD):c.775A>G (p.Lys259Glu) rs45589337
NM_000112.3(SLC26A2):c.-26+2T>C rs386833492
NM_000112.3(SLC26A2):c.1020_1022delTGT (p.Val341del) rs121908077
NM_000112.3(SLC26A2):c.1410A>G (p.Val470=) rs115777661
NM_000112.3(SLC26A2):c.1474C>T (p.Arg492Trp) rs78676079
NM_000112.3(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924
NM_000112.3(SLC26A2):c.2065A>T (p.Thr689Ser) rs3776070
NM_000112.3(SLC26A2):c.2087A>G (p.Asn696Ser) rs34351171
NM_000112.3(SLC26A2):c.532C>T (p.Arg178Ter) rs104893919
NM_000112.3(SLC26A2):c.835C>T (p.Arg279Trp) rs104893915
NM_000112.3(SLC26A2):c.987T>C (p.Leu329=) rs116302615
NM_000113.2(TOR1A):c.646G>C (p.Asp216His) rs1801968
NM_000113.2(TOR1A):c.907_909delGAG (p.Glu303del) rs80358233
NM_000115.4(EDNRB):c.169G>A (p.Gly57Ser) rs1801710
NM_000115.4(EDNRB):c.561C>T (p.Ile187=) rs5349
NM_000116.4(TAZ):c.383T>C (p.Phe128Ser) rs146934311
NM_000117.2(EMD):c.12C>T (p.Tyr4=) rs782011714
NM_000117.2(EMD):c.144C>T (p.Leu48=) rs200537612
NM_000117.2(EMD):c.171C>T (p.Ser57=) rs900267221
NM_000117.2(EMD):c.272A>G (p.Asn91Ser) rs137977232
NM_000117.2(EMD):c.396C>T (p.His132=) rs145985318
NM_000117.2(EMD):c.400-9C>T rs782061626
NM_000117.2(EMD):c.428C>T (p.Ser143Phe) rs139983160
NM_000117.2(EMD):c.466G>C (p.Gly156Arg) rs144594695
NM_000117.2(EMD):c.525C>T (p.Ser175=) rs782367505
NM_000117.2(EMD):c.537G>A (p.Leu179=) rs368661339
NM_000117.2(EMD):c.646G>A (p.Gly216Arg) rs147920229
NM_000117.2(EMD):c.662G>T (p.Arg221Leu) rs782057378
NM_000118.3(ENG):c.1374A>G (p.Pro458=) rs34828244
NM_000118.3(ENG):c.14C>T (p.Thr5Met) rs35400405
NM_000118.3(ENG):c.1510G>A (p.Val504Met) rs116330805
NM_000118.3(ENG):c.1572C>T (p.Pro524=) rs760682477
NM_000118.3(ENG):c.392C>T (p.Pro131Leu) rs139398993
NM_000118.3(ENG):c.572G>A (p.Gly191Asp) rs41322046
NM_000124.3(ERCC6):c.1158C>G (p.Asp386Glu) rs141391984
NM_000124.3(ERCC6):c.1196G>A (p.Gly399Asp) rs2228528
NM_000124.3(ERCC6):c.1274A>C (p.Asp425Ala) rs4253046
NM_000124.3(ERCC6):c.1526+1G>T rs371739894
NM_000124.3(ERCC6):c.1659G>T (p.Lys553Asn) rs116373975
NM_000124.3(ERCC6):c.1996C>T (p.Arg666Cys) rs61760163
NM_000124.3(ERCC6):c.2048G>A (p.Arg683Gln) rs148845653
NM_000124.3(ERCC6):c.2096C>T (p.Thr699Met) rs55698015
NM_000124.3(ERCC6):c.2839C>T (p.Arg947Ter) rs906755254
NM_000124.3(ERCC6):c.2924G>A (p.Arg975Gln) rs145720191
NM_000124.3(ERCC6):c.3061A>G (p.Ile1021Val) rs41562713
NM_000124.3(ERCC6):c.3122A>C (p.Gln1041Pro) rs139007661
NM_000124.3(ERCC6):c.3284C>G (p.Pro1095Arg) rs4253208
NM_000124.3(ERCC6):c.3289A>G (p.Met1097Val) rs2228526
NM_000124.3(ERCC6):c.3637A>G (p.Arg1213Gly) rs2228527
NM_000124.3(ERCC6):c.3650T>G (p.Phe1217Cys) rs61760166
NM_000124.3(ERCC6):c.4065T>G (p.Asp1355Glu) rs34917815
NM_000124.3(ERCC6):c.4238A>G (p.Gln1413Arg) rs2228529
NM_000124.3(ERCC6):c.670C>T (p.Leu224Phe) rs150935953
NM_000126.3(ETFA):c.2T>C (p.Met1Thr) rs727503918
NM_000126.3(ETFA):c.512C>T (p.Thr171Ile) rs1801591
NM_000126.3(ETFA):c.533C>G (p.Thr178Arg) rs140169311
NM_000126.3(ETFA):c.6C>T (p.Phe2=) rs749929239
NM_000128.3(F11):c.1432G>A (p.Gly478Arg) rs542967227
NM_000128.3(F11):c.400C>T (p.Gln134Ter) rs756908183
NM_000128.3(F11):c.67C>T (p.Gln23Ter) rs768409400
NM_000128.3(F11):c.809A>T (p.Lys270Ile) rs121965070
NM_000128.3(F11):c.901T>C (p.Phe301Leu) rs121965064
NM_000131.4(F7):c.1091G>A (p.Arg364Gln) rs121964926
NM_000132.3(F8):c.1660A>G (p.Ser554Gly) rs137852419
NM_000133.3(F9):c.391+10T>G rs375734226
NM_000133.3(F9):c.580A>G (p.Thr194Ala) rs6048
NM_000135.2(FANCA):c.1874G>C (p.Cys625Ser) rs139235751
NM_000136.2(FANCC):c.1485G>A (p.Leu495=) rs56082100
NM_000136.2(FANCC):c.345+8_345+9delAG rs755657969
NM_000136.2(FANCC):c.535C>T (p.Arg179Ter) rs769039987
NM_000136.2(FANCC):c.584A>T (p.Asp195Val) rs1800365
NM_000136.2(FANCC):c.77C>T (p.Ser26Phe) rs1800361
NM_000137.2(FAH):c.1021C>T (p.Arg341Trp) rs11555096
NM_000137.2(FAH):c.1027G>T (p.Gly343Trp)
NM_000137.2(FAH):c.1056C>T (p.Ser352=) rs1801374
NM_000137.2(FAH):c.1062+5G>A rs80338901
NM_000137.2(FAH):c.1209C>T (p.Ile403=) rs111345782
NM_000137.2(FAH):c.1259G>A (p.Ter420=) rs61747586
NM_000137.2(FAH):c.192G>T (p.Gln64His) rs80338894
NM_000137.2(FAH):c.243G>A (p.Ala81=) rs36122289
NM_000137.2(FAH):c.267G>C (p.Leu89=) rs33929922
NM_000137.2(FAH):c.296A>G (p.Asp99Gly) rs547847694
NM_000137.2(FAH):c.456G>A (p.Trp152Ter) rs370686447
NM_000137.2(FAH):c.553+10C>T rs201051426
NM_000137.2(FAH):c.554-1G>T rs80338895
NM_000137.2(FAH):c.782C>T (p.Pro261Leu) rs80338898
NM_000137.2(FAH):c.870C>T (p.Asp290=) rs377480457
NM_000137.2(FAH):c.921A>G (p.Gly307=) rs76338717
NM_000138.4(FBN1):c.1481G>C (p.Cys494Ser) rs1057518881
NM_000138.4(FBN1):c.1746C>T (p.Cys582=) rs112366266
NM_000138.4(FBN1):c.1960+30G>A rs25459
NM_000138.4(FBN1):c.2148A>G (p.Gly716=) rs141039922
NM_000138.4(FBN1):c.2892C>T (p.Asp964=) rs116945525
NM_000138.4(FBN1):c.2920C>T (p.Arg974Cys) rs397514558
NM_000138.4(FBN1):c.2956G>A (p.Ala986Thr) rs112287730
NM_000138.4(FBN1):c.3037G>A (p.Gly1013Arg) rs140593
NM_000138.4(FBN1):c.306C>T (p.Cys102=) rs25388
NM_000138.4(FBN1):c.3082+8delG rs193922196
NM_000138.4(FBN1):c.3294C>T (p.Asp1098=) rs140587
NM_000138.4(FBN1):c.3463+3A>G rs80344206
NM_000138.4(FBN1):c.3464-6C>T rs375596551
NM_000138.4(FBN1):c.3509G>A (p.Arg1170His) rs137854475
NM_000138.4(FBN1):c.4441A>G (p.Ser1481Gly) rs61730054
NM_000138.4(FBN1):c.4443C>T (p.Ser1481=) rs145040593
NM_000138.4(FBN1):c.4588C>T (p.Arg1530Cys) rs111401431
NM_000138.4(FBN1):c.4905C>G (p.Thr1635=) rs113115949
NM_000138.4(FBN1):c.4998C>T (p.Thr1666=) rs141925790
NM_000138.4(FBN1):c.510C>T (p.Tyr170=) rs111671429
NM_000138.4(FBN1):c.5284G>A (p.Gly1762Ser) rs387906623
NM_000138.4(FBN1):c.5343G>A (p.Val1781=) rs140649
NM_000138.4(FBN1):c.5358T>C (p.Val1786=) rs1057521207
NM_000138.4(FBN1):c.5423-4G>A rs377036485
NM_000138.4(FBN1):c.5964C>T (p.Thr1988=) rs113022801
NM_000138.4(FBN1):c.59A>G (p.Tyr20Cys) rs201309310
NM_000138.4(FBN1):c.6073G>T (p.Ala2025Ser) rs113577372
NM_000138.4(FBN1):c.6189G>A (p.Ala2063=) rs375624881
NM_000138.4(FBN1):c.6594C>T (p.Pro2198=) rs111844882
NM_000138.4(FBN1):c.6681A>C (p.Ser2227=) rs363824
NM_000138.4(FBN1):c.6700G>A (p.Val2234Met) rs112084407
NM_000138.4(FBN1):c.6832C>T (p.Pro2278Ser) rs363835
NM_000138.4(FBN1):c.6837G>A (p.Gly2279=) rs140584234
NM_000138.4(FBN1):c.6852T>C (p.Pro2284=) rs201226058
NM_000138.4(FBN1):c.75G>A (p.Ala25=) rs543230518
NM_000138.4(FBN1):c.783T>C (p.Asn261=) rs113721547
NM_000138.4(FBN1):c.7902C>T (p.Pro2634=) rs138621371
NM_000138.4(FBN1):c.7950T>C (p.Asn2650=) rs143055643
NM_000138.4(FBN1):c.7964C>T (p.Ala2655Val) rs202240409
NM_000138.4(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008
NM_000138.4(FBN1):c.8283A>T (p.Thr2761=) rs146120912
NM_000138.4(FBN1):c.8326C>T (p.Arg2776Ter) rs137854466
NM_000138.4(FBN1):c.8502T>C (p.Thr2834=) rs363847
NM_000138.4(FBN1):c.986T>C (p.Ile329Thr) rs12324002
NM_000141.4(FGFR2):c.1040C>G (p.Ser347Cys) rs121918494
NM_000141.4(FGFR2):c.159G>A (p.Ala53=) rs1047102
NM_000141.4(FGFR2):c.170C>T (p.Ser57Leu) rs56226109
NM_000141.4(FGFR2):c.1922A>G (p.Lys641Arg) rs1057519047
NM_000141.4(FGFR2):c.23T>G (p.Ile8Ser) rs147307031
NM_000141.4(FGFR2):c.294G>A (p.Thr98=) rs1047101
NM_000142.4(FGFR3):c.1118A>G (p.Tyr373Cys) rs121913485
NM_000142.4(FGFR3):c.1138G>A (p.Gly380Arg) rs28931614
NM_000142.4(FGFR3):c.1150T>C (p.Phe384Leu) rs17881656
NM_000142.4(FGFR3):c.130G>A (p.Gly44Ser) rs146080119
NM_000142.4(FGFR3):c.1345C>T (p.Pro449Ser) rs61735104
NM_000142.4(FGFR3):c.1497C>T (p.Ala499=) rs140594137
NM_000142.4(FGFR3):c.1620C>A (p.Asn540Lys) rs28933068
NM_000142.4(FGFR3):c.169G>A (p.Val57Met) rs61735064
NM_000142.4(FGFR3):c.2043G>A (p.Gly681=) rs17883356
NM_000142.4(FGFR3):c.252G>A (p.Ser84=) rs367973461
NM_000142.4(FGFR3):c.393G>A (p.Ser131=) rs55662109
NM_000142.4(FGFR3):c.666C>T (p.Asp222=) rs201081464
NM_000142.4(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000143.3(FH):c.1020T>A (p.Asn340Lys) rs398123159
NM_000143.3(FH):c.1067T>A (p.Leu356Ter) rs727503927
NM_000143.3(FH):c.1154C>A (p.Ala385Asp) rs727503926
NM_000143.3(FH):c.1255T>C (p.Ser419Pro) rs200004220
NM_000143.3(FH):c.1301G>A (p.Cys434Tyr) rs398123164
NM_000143.3(FH):c.1431_1433dupAAA (p.Lys477_Asn478insLys) rs367543046
NM_000143.3(FH):c.208G>A (p.Ala70Thr) rs587782207
NM_000143.3(FH):c.437G>A (p.Gly146Glu) rs11545654
NM_000143.3(FH):c.521C>G (p.Pro174Arg) rs199822819
NM_000143.3(FH):c.892G>C (p.Ala298Pro) rs201395553
NM_000143.3(FH):c.952C>T (p.His318Tyr) rs398123168
NM_000144.4(FXN):c.54A>G (p.Pro18=) rs2481598
NM_000144.4(FXN):c.626A>G (p.Asp209Gly) rs74621026
NM_000147.4(FUCA1):c.-12T>C rs2070954
NM_000147.4(FUCA1):c.29C>G (p.Pro10Arg) rs2070956
NM_000147.4(FUCA1):c.402G>C (p.Leu134Phe) rs143691289
NM_000151.3(G6PC):c.340+10C>A rs368450665
NM_000151.3(G6PC):c.379_380dupTA (p.Tyr128Thrfs) rs80356488
NM_000151.3(G6PC):c.562+10G>A rs199505156
NM_000151.3(G6PC):c.648G>T (p.Leu216=) rs80356484
NM_000151.3(G6PC):c.694G>A (p.Val232Ile) rs145172999
NM_000151.3(G6PC):c.883C>T (p.Arg295Cys) rs104894563
NM_000151.3(G6PC):c.969C>A (p.Tyr323Ter) rs780226142
NM_000152.3(GAA):c.1378G>A (p.Glu460Lys) rs771213237
NM_000152.3(GAA):c.1548G>A (p.Trp516Ter) rs140826989
NM_000152.3(GAA):c.1552-13G>A rs111261964
NM_000152.3(GAA):c.1552-3C>G rs375470378
NM_000152.3(GAA):c.1979G>A (p.Arg660His) rs374143224
NM_000152.3(GAA):c.2014C>T (p.Arg672Trp) rs757111744
NM_000152.3(GAA):c.2064C>T (p.Ser688=) rs140996643
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309
NM_000152.3(GAA):c.2105G>A (p.Arg702His) rs398123172
NM_000152.3(GAA):c.2238G>A (p.Trp746Ter) rs1800312
NM_000152.3(GAA):c.2501_2502delCA (p.Thr834Argfs) rs886043343
NM_000152.3(GAA):c.2560C>T (p.Arg854Ter) rs121907943
NM_000152.3(GAA):c.2561G>A (p.Arg854Gln) rs149968110
NM_000152.3(GAA):c.257C>G (p.Pro86Arg) rs2229222
NM_000152.3(GAA):c.2608C>T (p.Arg870Ter) rs780321415
NM_000152.3(GAA):c.271G>A (p.Asp91Asn) rs1800299
NM_000152.3(GAA):c.32G>A (p.Arg11Gln) rs138812846
NM_000152.3(GAA):c.447G>A (p.Thr149=) rs2289536
NM_000152.3(GAA):c.525delT (p.Glu176Argfs) rs386834235
NM_000152.3(GAA):c.655G>A (p.Gly219Arg) rs370950728
NM_000152.3(GAA):c.670C>T (p.Arg224Trp) rs757700700
NM_000152.3(GAA):c.784G>A (p.Glu262Lys) rs201896815
NM_000152.3(GAA):c.853C>T (p.Pro285Ser) rs886042086
NM_000152.3(GAA):c.875A>G (p.Tyr292Cys) rs1057516600
NM_000152.3(GAA):c.925G>A (p.Gly309Arg) rs543300039
NM_000152.3(GAA):c.953T>C (p.Met318Thr) rs121907936
NM_000152.4(GAA):c.*3G>A rs1800317
NM_000152.4(GAA):c.-32-13T>G rs386834236
NM_000152.4(GAA):c.1051delG (p.Val351Cysfs) rs786204507
NM_000152.4(GAA):c.1075+9T>C rs751918816
NM_000152.4(GAA):c.1083G>A (p.Pro361=) rs781379047
NM_000152.4(GAA):c.1124G>T (p.Arg375Leu) rs142752477
NM_000152.4(GAA):c.1128_1129delGGinsC (p.Trp376Cysfs) rs786204646
NM_000152.4(GAA):c.1143C>T (p.Thr381=) rs111832449
NM_000152.4(GAA):c.1143delC (p.Ala382Leufs) rs757458607
NM_000152.4(GAA):c.1265G>A (p.Arg422Gln) rs2229224
NM_000152.4(GAA):c.1285C>G (p.Gln429Glu) rs528369909
NM_000152.4(GAA):c.1286A>G (p.Gln429Arg) rs200294882
NM_000152.4(GAA):c.1327-18A>G rs2278619
NM_000152.4(GAA):c.1343G>C (p.Ser448Thr) rs145712232
NM_000152.4(GAA):c.1356C>T (p.Ala452=) rs757893858
NM_000152.4(GAA):c.1374C>T (p.Tyr458=) rs1800305
NM_000152.4(GAA):c.1416C>T (p.Thr472=) rs368492669
NM_000152.4(GAA):c.1425G>A (p.Pro475=) rs753140491
NM_000152.4(GAA):c.1438-1G>C rs147804176
NM_000152.4(GAA):c.1438-7_1438-5delTGT rs764583466
NM_000152.4(GAA):c.1438-9G>A rs202211401
NM_000152.4(GAA):c.1447G>A (p.Gly483Arg) rs770590394
NM_000152.4(GAA):c.1465G>A (p.Asp489Asn) rs398123169
NM_000152.4(GAA):c.1482A>G (p.Thr494=) rs202064115
NM_000152.4(GAA):c.1536C>T (p.Phe512=) rs143491365
NM_000152.4(GAA):c.1556T>C (p.Met519Thr) rs786204720
NM_000152.4(GAA):c.1564C>G (p.Pro522Ala) rs892129065
NM_000152.4(GAA):c.1581G>A (p.Arg527=) rs1042396
NM_000152.4(GAA):c.1593C>T (p.Asp531=) rs138732016
NM_000152.4(GAA):c.1599C>T (p.Cys533=) rs142766716
NM_000152.4(GAA):c.1629C>T (p.Tyr543=) rs372193105
NM_000152.4(GAA):c.1726G>A (p.Gly576Ser) rs1800307
NM_000152.4(GAA):c.1754+12G>A rs2304840
NM_000152.4(GAA):c.1758G>A (p.Ala586=) rs79795428
NM_000152.4(GAA):c.1827delC (p.Tyr609Terfs) rs781088002
NM_000152.4(GAA):c.1830C>T (p.Ala610=) rs61736896
NM_000152.4(GAA):c.1841C>A (p.Thr614Lys) rs369531647
NM_000152.4(GAA):c.1842G>A (p.Thr614=) rs373955374
NM_000152.4(GAA):c.1848C>T (p.Asp616=) rs377175810
NM_000152.4(GAA):c.1884G>C (p.Val628=) rs780130036
NM_000152.4(GAA):c.1888+10_1888+11insC rs748036956
NM_000152.4(GAA):c.1920T>G (p.Pro640=) rs144090460
NM_000152.4(GAA):c.2052G>A (p.Pro684=) rs546463058
NM_000152.4(GAA):c.2109C>T (p.Tyr703=) rs150728610
NM_000152.4(GAA):c.2132C>G (p.Thr711Arg) rs759292700
NM_000152.4(GAA):c.2133A>G (p.Thr711=) rs1800310
NM_000152.4(GAA):c.2140delC (p.His714Thrfs) rs786204549
NM_000152.4(GAA):c.2152G>A (p.Val718Ile) rs141017311
NM_000152.4(GAA):c.2157G>A (p.Ala719=) rs201523530
NM_000152.4(GAA):c.216C>T (p.Pro72=) rs753287841
NM_000152.4(GAA):c.2190-4G>A rs759974338
NM_000152.4(GAA):c.2236T>C (p.Trp746Arg) rs1479740763
NM_000152.4(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000152.4(GAA):c.2242dup (p.Glu748Glyfs) rs777275355
NM_000152.4(GAA):c.2253C>T (p.Leu751=) rs140441758
NM_000152.4(GAA):c.2332-10C>G rs373606162
NM_000152.4(GAA):c.2332-12A>T rs200965268
NM_000152.4(GAA):c.2400C>T (p.Ser800=) rs115705591
NM_000152.4(GAA):c.2415G>A (p.Val805=) rs150536507
NM_000152.4(GAA):c.2446G>A (p.Val816Ile) rs1800314
NM_000152.4(GAA):c.2478G>A (p.Leu826=) rs201183207
NM_000152.4(GAA):c.2481+16G>A rs41292408
NM_000152.4(GAA):c.249C>T (p.Asp83=) rs377351519
NM_000152.4(GAA):c.2580C>T (p.Asp860=) rs61736894
NM_000152.4(GAA):c.258C>A (p.Pro86=) rs146615896
NM_000152.4(GAA):c.2647-6G>A rs201525743
NM_000152.4(GAA):c.2647-8C>T rs139201641
NM_000152.4(GAA):c.2652G>A (p.Thr884=) rs143642048
NM_000152.4(GAA):c.2668G>C (p.Val890Leu) rs377286472
NM_000152.4(GAA):c.2736G>A (p.Ala912=) rs142472738
NM_000152.4(GAA):c.2739C>G (p.Pro913=) rs370765733
NM_000152.4(GAA):c.2780C>T (p.Thr927Ile) rs1800315
NM_000152.4(GAA):c.2800-9_2800-8delCT rs770227589
NM_000152.4(GAA):c.318C>T (p.Arg106=) rs762542246
NM_000152.4(GAA):c.351G>A (p.Leu117=) rs574947353
NM_000152.4(GAA):c.368G>A (p.Gly123Glu) rs138034915
NM_000152.4(GAA):c.510C>T (p.Asp170=) rs564758226
NM_000152.4(GAA):c.546+18G>A rs190153982
NM_000152.4(GAA):c.546+8G>A rs200107080
NM_000152.4(GAA):c.546G>A (p.Thr182=) rs143523371
NM_000152.4(GAA):c.600C>T (p.Val200=) rs150895924
NM_000152.4(GAA):c.642C>T (p.Ser214=) rs1800301
NM_000152.4(GAA):c.663C>T (p.Ile221=) rs142878958
NM_000152.4(GAA):c.664G>A (p.Val222Met) rs374569672
NM_000152.4(GAA):c.668G>A (p.Arg223His) rs1042395
NM_000152.4(GAA):c.692+9T>C rs367661167
NM_000152.4(GAA):c.693-4G>T rs200088236
NM_000152.4(GAA):c.711G>A (p.Ala237=) rs368328598
NM_000152.4(GAA):c.726G>A (p.Ala242=) rs148578399
NM_000152.4(GAA):c.736delC (p.Leu246Phefs) rs886043920
NM_000152.4(GAA):c.766_785del20insC (p.Tyr256Argfs) rs786204532
NM_000152.4(GAA):c.834G>A (p.Leu278=) rs776314424
NM_000152.4(GAA):c.858+17_858+23dupCGGGCGG rs1555599723
NM_000152.4(GAA):c.858+7_858+8insAGCAGGC rs3071247
NM_000152.4(GAA):c.858+8G>A rs5822325
NM_000152.4(GAA):c.861C>T (p.Pro287=) rs778580823
NM_000152.4(GAA):c.915G>A (p.Gly305=) rs150343359
NM_000152.4(GAA):c.917C>T (p.Ser306Leu) rs138097673
NM_000152.4(GAA):c.921A>T (p.Ala307=) rs1800303
NM_000152.5(GAA):c.1826dup (p.Tyr609Terfs) rs786204727
NM_000153.3(GALC):c.1158_1161+6delCATGGTAAAC rs759068540
NM_000153.3(GALC):c.1162-4delT rs11300320
NM_000153.3(GALC):c.1403C>G (p.Thr468Ser) rs34134328
NM_000153.3(GALC):c.1543G>A (p.Glu515Lys) rs794727116
NM_000153.3(GALC):c.1592G>A (p.Arg531His) rs200378205
NM_000153.3(GALC):c.1700A>C (p.Tyr567Ser) rs752537626
NM_000153.3(GALC):c.195G>C (p.Gly65=) rs886042057
NM_000153.3(GALC):c.243_244dup (p.Ile82Argfs) rs886043419
NM_000153.3(GALC):c.266C>T (p.Pro89Leu) rs201422931
NM_000153.3(GALC):c.330C>T (p.Asp110=) rs11552556
NM_000153.3(GALC):c.334A>G (p.Thr112Ala) rs147313927
NM_000153.3(GALC):c.349A>G (p.Met117Val) rs145580093
NM_000153.3(GALC):c.397T>C (p.Leu133=) rs56194647
NM_000153.3(GALC):c.42G>C (p.Ala14=) rs112992946
NM_000153.3(GALC):c.550C>T (p.Arg184Cys) rs1805078
NM_000153.3(GALC):c.61G>C (p.Ala21Pro) rs111887056
NM_000153.3(GALC):c.658C>T (p.Arg220Ter) rs766310671
NM_000153.3(GALC):c.742G>A (p.Asp248Asn) rs34362748
NM_000153.3(GALC):c.75C>A (p.Gly25=) rs111976362
NM_000153.3(GALC):c.908C>T (p.Ser303Phe) rs756352952
NM_000153.3(GALC):c.913A>G (p.Ile305Val) rs74887188
NM_000153.3(GALC):c.96G>T (p.Leu32=) rs113719127
NM_000154.1(GALK1):c.189G>A (p.Leu63=) rs7211385
NM_000155.2(GALT):c.-119_-116delGTCA rs111033640
NM_000155.3(GALT):c.100T>A (p.Tyr34Asn) rs111033836
NM_000155.3(GALT):c.1014C>G (p.Gly338=) rs111033811
NM_000155.3(GALT):c.1030C>A (p.Gln344Lys) rs111033814
NM_000155.3(GALT):c.1052delC (p.Pro351Leufs) rs111033813
NM_000155.3(GALT):c.1060-1G>A rs367543268
NM_000155.3(GALT):c.107C>T (p.Pro36Leu) rs111033645
NM_000155.3(GALT):c.134C>T (p.Ser45Leu) rs111033652
NM_000155.3(GALT):c.241G>A (p.Ala81Thr) rs111033665
NM_000155.3(GALT):c.292G>A (p.Asp98Asn) rs111033670
NM_000155.3(GALT):c.292G>C (p.Asp98His) rs111033670
NM_000155.3(GALT):c.307C>T (p.Gln103Ter) rs1225091358
NM_000155.3(GALT):c.379A>G (p.Lys127Glu) rs111033682
NM_000155.3(GALT):c.389G>A (p.Cys130Tyr) rs367543255
NM_000155.3(GALT):c.396C>A (p.His132Gln) rs367543256
NM_000155.3(GALT):c.404C>T (p.Ser135Leu) rs111033690
NM_000155.3(GALT):c.414G>T (p.Thr138=) rs116479817
NM_000155.3(GALT):c.41delCinsTT (p.Ala14Valfs) rs111033634
NM_000155.3(GALT):c.443G>A (p.Arg148Gln) rs111033694
NM_000155.3(GALT):c.508-1G>C rs398123181
NM_000155.3(GALT):c.510C>A (p.Ile170=) rs61735984
NM_000155.3(GALT):c.512T>C (p.Phe171Ser) rs111033715
NM_000155.3(GALT):c.564+15G>A rs111033732
NM_000155.3(GALT):c.564+1G>A rs111033723
NM_000155.3(GALT):c.564+7G>A rs760189807
NM_000155.3(GALT):c.572C>T (p.Ala191Val) rs794727838
NM_000155.3(GALT):c.598delC (p.Gln200Serfs) rs111033738
NM_000155.3(GALT):c.602G>A (p.Arg201His) rs111033735
NM_000155.3(GALT):c.607G>A (p.Glu203Lys) rs111033736
NM_000155.3(GALT):c.610C>T (p.Arg204Ter) rs111033737
NM_000155.3(GALT):c.619C>T (p.Gln207Ter) rs111033743
NM_000155.3(GALT):c.626A>G (p.Tyr209Cys) rs111033744
NM_000155.3(GALT):c.634C>T (p.Gln212Ter) rs111033746
NM_000155.3(GALT):c.652C>G (p.Leu218Val) rs2070075
NM_000155.3(GALT):c.652C>T (p.Leu218=) rs2070075
NM_000155.3(GALT):c.688-2A>C rs398123185
NM_000155.3(GALT):c.691C>T (p.Arg231Cys) rs111033749
NM_000155.3(GALT):c.752A>C (p.Tyr251Ser) rs111033755
NM_000155.3(GALT):c.772C>T (p.Arg258Cys) rs368166217
NM_000155.3(GALT):c.775C>T (p.Arg259Trp) rs786204763
NM_000155.3(GALT):c.776G>A (p.Arg259Gln) rs886042070
NM_000155.3(GALT):c.790_792invCTA (p.Leu264Ter)
NM_000155.3(GALT):c.793C>G (p.Pro265Ala) rs111033764
NM_000155.3(GALT):c.815G>A (p.Arg272His) rs111033831
NM_000155.3(GALT):c.820+13A>G rs111033768
NM_000155.3(GALT):c.844C>G (p.Leu282Val) rs111033772
NM_000155.3(GALT):c.876G>A (p.Thr292=) rs1055607
NM_000155.3(GALT):c.893T>C (p.Met298Thr) rs886042064
NM_000155.3(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000155.3(GALT):c.945T>C (p.His315=) rs61735982
NM_000155.3(GALT):c.957C>A (p.His319Gln) rs111033792
NM_000155.3(GALT):c.958G>A (p.Ala320Thr) rs111033795
NM_000155.3(GALT):c.997C>T (p.Arg333Trp) rs111033800
NM_000156.5(GAMT):c.189G>C (p.Arg63=) rs568392459
NM_000156.5(GAMT):c.279C>T (p.Asp93=) rs144630886
NM_000156.5(GAMT):c.392-7C>T rs192416474
NM_000156.5(GAMT):c.581T>C (p.Val194Ala) rs147739199
NM_000156.5(GAMT):c.670G>A (p.Ala224Thr) rs141471799
NM_000156.5(GAMT):c.79T>C (p.Tyr27His) rs200833152
NM_000157.3(GBA):c.1223C>T (p.Thr408Met) rs75548401
NM_000157.3(GBA):c.1246G>A (p.Gly416Ser) rs121908311
NM_000157.3(GBA):c.1342G>C (p.Asp448His) rs1064651
NM_000157.3(GBA):c.1448T>C rs421016
NM_000157.3(GBA):c.1604G>A (p.Arg535His) rs75822236
NM_000157.3(GBA):c.475C>T (p.Arg159Trp) rs439898
NM_000157.3(GBA):c.754T>A (p.Phe252Ile) rs381737
NM_000158.3(GBE1):c.1544G>A (p.Arg515His) rs201958741
NM_000158.3(GBE1):c.405C>T (p.Leu135=) rs139882066
NM_000158.3(GBE1):c.839G>A (p.Gly280Asp) rs28763902
NM_000158.3(GBE1):c.986A>C (p.Tyr329Ser) rs80338671
NM_000159.2(GCDH):c.1144G>A (p.Ala382Thr) rs567564095
NM_000159.2(GCDH):c.997C>G (p.Gln333Glu) rs794726972
NM_000159.3(GCDH):c.1011A>G (p.Ala337=) rs2229460
NM_000159.3(GCDH):c.1143C>T (p.Ile381=) rs142553521
NM_000159.3(GCDH):c.1167G>A (p.Leu389=) rs398123191
NM_000159.3(GCDH):c.1168G>C (p.Gly390Arg) rs372983141
NM_000159.3(GCDH):c.1204C>T (p.Arg402Trp) rs121434369
NM_000159.3(GCDH):c.271+1G>A rs786204639
NM_000159.3(GCDH):c.356C>T (p.Ser119Leu) rs886043840
NM_000159.3(GCDH):c.471C>T (p.Ser157=) rs146682905
NM_000159.3(GCDH):c.482G>A (p.Arg161Gln) rs777201305
NM_000159.3(GCDH):c.572T>C (p.Met191Thr) rs149120354
NM_000159.3(GCDH):c.636-1G>A rs398123195
NM_000159.3(GCDH):c.642G>A (p.Thr214=) rs142806397
NM_000159.3(GCDH):c.680G>C (p.Arg227Pro) rs121434373
NM_000159.3(GCDH):c.877G>A (p.Ala293Thr) rs121434371
NM_000161.2(GCH1):c.610G>A (p.Val204Ile) rs200891969
NM_000162.3(GCK):c.333C>T (p.Pro111=) rs61736250
NM_000162.3(GCK):c.76C>T (p.Gln26Ter) rs193922329
NM_000162.4(GCK):c.572G>A (p.Arg191Gln) rs886042610
NM_000162.4(GCK):c.660C>T (p.Cys220=) rs142952813
NM_000163.4(GHR):c.1319G>T (p.Cys440Phe) rs6182
NM_000163.4(GHR):c.1630A>C (p.Ile544Leu) rs6180
NM_000163.4(GHR):c.1735C>A (p.Pro579Thr) rs6184
NM_000163.4(GHR):c.195A>G (p.Ser65=) rs140501920
NM_000163.4(GHR):c.535C>T (p.Arg179Cys) rs121909362
NM_000163.4(GHR):c.686G>A (p.Arg229His) rs6177
NM_000163.4(GHR):c.718T>C (p.Tyr240His) rs143814221
NM_000166.5(GJB1):c.271G>A (p.Val91Met) rs756928158
NM_000166.5(GJB1):c.704T>G (p.Phe235Cys) rs104894825
NM_000168.5(GLI3):c.1182A>G (p.Pro394=) rs748606221
NM_000168.5(GLI3):c.1357-17C>G rs190600888
NM_000168.5(GLI3):c.1393G>C (p.Gly465Arg) rs35488756
NM_000168.5(GLI3):c.1485G>A (p.Glu495=) rs149248727
NM_000168.5(GLI3):c.1671C>T (p.Tyr557=) rs143948870
NM_000168.5(GLI3):c.1959G>A (p.Pro653=) rs148226583
NM_000168.5(GLI3):c.2179G>A (p.Gly727Arg) rs121917710
NM_000168.5(GLI3):c.2245A>G (p.Ile749Val) rs140048578
NM_000168.5(GLI3):c.2373G>A (p.Pro791=) rs61754622
NM_000168.5(GLI3):c.2424A>G (p.Ile808Met) rs62622373
NM_000168.5(GLI3):c.2826G>C (p.Pro942=) rs34245321
NM_000168.5(GLI3):c.2835G>C (p.Leu945=) rs61758978
NM_000168.5(GLI3):c.341G>A (p.Arg114Lys) rs146458902
NM_000168.5(GLI3):c.3664C>T (p.Pro1222Ser) rs118149040
NM_000168.5(GLI3):c.3762T>C (p.Tyr1254=) rs148043302
NM_000168.5(GLI3):c.3829C>G (p.Gln1277Glu) rs146582871
NM_000168.5(GLI3):c.3935T>G (p.Met1312Arg) rs199875457
NM_000168.5(GLI3):c.840C>G (p.Ser280=) rs77084911
NM_000169.2(GLA):c.-12G>A rs3027585
NM_000169.2(GLA):c.1057_1058delAT (p.Met353Aspfs) rs886044829
NM_000169.2(GLA):c.1067G>A (p.Arg356Gln) rs869312163
NM_000169.2(GLA):c.1085C>T (p.Pro362Leu) rs730880441
NM_000169.2(GLA):c.1088G>A (p.Arg363His) rs111422676
NM_000169.2(GLA):c.109G>C (p.Ala37Pro)
NM_000169.2(GLA):c.124A>C (p.Met42Leu) rs797044613
NM_000169.2(GLA):c.129C>T (p.Gly43=) rs146177035
NM_000169.2(GLA):c.196G>C (p.Glu66Gln) rs104894833
NM_000169.2(GLA):c.239G>A (p.Gly80Asp) rs781838005
NM_000169.2(GLA):c.265C>T (p.Leu89Phe) rs1555986305
NM_000169.2(GLA):c.295del (p.Gln99Lysfs)
NM_000169.2(GLA):c.335G>A (p.Arg112His) rs372966991
NM_000169.2(GLA):c.352C>T (p.Arg118Cys) rs148158093
NM_000169.2(GLA):c.376A>G (p.Ser126Gly) rs149391489
NM_000169.2(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000169.2(GLA):c.427G>C (p.Ala143Pro) rs104894845
NM_000169.2(GLA):c.593T>C (p.Ile198Thr) rs727503950
NM_000169.2(GLA):c.59_72dup (p.Asp25Profs) rs1555987175
NM_000169.2(GLA):c.605G>A (p.Cys202Tyr) rs869312344
NM_000169.2(GLA):c.610T>C (p.Trp204Arg) rs869312148
NM_000169.2(GLA):c.613C>A (p.Pro205Thr) rs397515870
NM_000169.2(GLA):c.619T>C (p.Tyr207His) rs372416832
NM_000169.2(GLA):c.639+919G>A rs199473684
NM_000169.2(GLA):c.640-1G>A
NM_000169.2(GLA):c.714T>C (p.Ser238=) rs397515872
NM_000169.2(GLA):c.848dup (p.Met284Aspfs) rs1555985002
NM_000169.2(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000169.2(GLA):c.978G>A (p.Lys326=) rs151195362
NM_000169.2(GLA):c.982G>C (p.Gly328Arg) rs104894832
NM_000170.2(GLDC):c.2316-1G>A rs386833554
NM_000170.2(GLDC):c.2423_2426dupGTTC (p.Ile810Phefs) rs755313904
NM_000179.2(MSH6):c.1054G>A (p.Val352Ile) rs730881787
NM_000179.2(MSH6):c.1164C>T (p.His388=) rs55708305
NM_000179.2(MSH6):c.116G>A (p.Gly39Glu) rs1042821
NM_000179.2(MSH6):c.1508C>G (p.Ser503Cys) rs63750897
NM_000179.2(MSH6):c.1526T>C (p.Val509Ala) rs63751005
NM_000179.2(MSH6):c.1665A>G (p.Ala555=) rs146785465
NM_000179.2(MSH6):c.186C>A (p.Arg62=) rs1042820
NM_000179.2(MSH6):c.2253T>C (p.Asn751=) rs2020913
NM_000179.2(MSH6):c.2272C>T (p.Leu758=) rs56371757
NM_000179.2(MSH6):c.2418C>T (p.Ser806=) rs770992427
NM_000179.2(MSH6):c.2633T>C (p.Val878Ala) rs2020912
NM_000179.2(MSH6):c.276A>G (p.Pro92=) rs1800932
NM_000179.2(MSH6):c.3203G>A (p.Arg1068Gln) rs398123230
NM_000179.2(MSH6):c.3246G>A (p.Pro1082=) rs3136351
NM_000179.2(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000179.2(MSH6):c.3261dupC (p.Phe1088Leufs) rs267608078
NM_000179.2(MSH6):c.3306T>A (p.Thr1102=) rs2020910
NM_000179.2(MSH6):c.3438+14A>T rs2020911
NM_000179.2(MSH6):c.3439-16C>T rs192614006
NM_000179.2(MSH6):c.3477C>A (p.Tyr1159Ter) rs398123231
NM_000179.2(MSH6):c.3646+35_3646+38delATCT rs1805181
NM_000179.2(MSH6):c.3646+91T>C rs3136359
NM_000179.2(MSH6):c.4001+2_4001+5delTAAC rs267608132
NM_000179.2(MSH6):c.431G>T (p.Ser144Ile) rs3211299
NM_000179.2(MSH6):c.540T>C (p.Asp180=) rs1800935
NM_000179.2(MSH6):c.642C>T (p.Tyr214=) rs1800937
NM_000179.2(MSH6):c.660A>C (p.Glu220Asp) rs1800938
NM_000179.2(MSH6):c.984C>T (p.Ser328=) rs138143769
NM_000180.3(GUCY2D):c.129_134delTCTGCT (p.Leu44_Leu45del) rs552184470
NM_000180.3(GUCY2D):c.1537C>T (p.Leu513Phe) rs61749682
NM_000180.3(GUCY2D):c.154G>T (p.Ala52Ser) rs61749665
NM_000180.3(GUCY2D):c.164C>T (p.Thr55Met) rs201414567
NM_000180.3(GUCY2D):c.2101C>T (p.Pro701Ser) rs34598902
NM_000180.3(GUCY2D):c.61T>C (p.Trp21Arg) rs9905402
NM_000181.3(GUSB):c.-12G>A rs2279903
NM_000181.3(GUSB):c.162C>T (p.Asn54=) rs74975849
NM_000181.3(GUSB):c.1740C>T (p.Tyr580=) rs1061361
NM_000181.3(GUSB):c.678C>T (p.Thr226=) rs537957979
NM_000182.4(HADHA):c.1072C>A (p.Gln358Lys) rs2229420
NM_000182.4(HADHA):c.1212G>C (p.Val404=) rs116396996
NM_000182.4(HADHA):c.157C>T (p.Arg53Ter) rs147103714
NM_000182.4(HADHA):c.1981C>T (p.Leu661=) rs142348718
NM_000182.4(HADHA):c.2146+1G>A rs794727219
NM_000182.4(HADHA):c.2175C>T (p.Gly725=) rs375399631
NM_000182.4(HADHA):c.274_278delTCATC (p.Ser92Lysfs) rs781205883
NM_000182.4(HADHA):c.403A>G (p.Lys135Glu) rs794727700
NM_000182.4(HADHA):c.919-2A>G rs200017313
NM_000183.2(HADHB):c.246A>G (p.Ala82=) rs151302743
NM_000186.3(CFH):c.2634C>T (p.His878=) rs35292876
NM_000186.3(CFH):c.3176T>C (p.Ile1059Thr) rs35343172
NM_000190.4(HMBS):c.962G>A (p.Arg321His) rs150428209
NM_000191.2(HMGCL):c.698A>G (p.His233Arg) rs727503963
NM_000192.3(TBX5):c.114C>T (p.Ser38=) rs34014008
NM_000192.3(TBX5):c.331G>T (p.Asp111Tyr) rs77357563
NM_000192.3(TBX5):c.55G>T (p.Ala19Ser) rs200461617
NM_000192.3(TBX5):c.786C>T (p.Thr262=) rs375955080
NM_000192.3(TBX5):c.787G>A (p.Val263Met) rs147405081
NM_000193.3(SHH):c.1078C>T (p.Leu360=) rs191903572
NM_000193.3(SHH):c.570G>A (p.Ser190=) rs9333633
NM_000193.3(SHH):c.630C>T (p.Gly210=) rs9333634
NM_000193.3(SHH):c.869G>A (p.Gly290Asp) rs104894047
NM_000193.3(SHH):c.876G>A (p.Gly292=) rs112055654
NM_000194.2(HPRT1):c.151C>T (p.Arg51Ter) rs137852494
NM_000194.2(HPRT1):c.211G>C (p.Gly71Arg) rs137852488
NM_000195.4(HPS1):c.*12C>T rs112544050
NM_000195.4(HPS1):c.1472_1487dup16 (p.His497Glnfs) rs281865163
NM_000195.4(HPS1):c.1683C>T (p.Cys561=) rs112337765
NM_000199.3(SGSH):c.1081G>A (p.Val361Ile) rs9894254
NM_000199.3(SGSH):c.1105G>A (p.Glu369Lys) rs104894640
NM_000199.3(SGSH):c.1298G>A (p.Arg433Gln) rs104894641
NM_000199.3(SGSH):c.1339G>A (p.Glu447Lys) rs104894639
NM_000199.3(SGSH):c.220C>T (p.Arg74Cys) rs104894636
NM_000202.5(IDS):c.641C>T (p.Thr214Met) rs61736892
NM_000202.7(IDS):c.104A>G (p.Asp35Gly) rs144081417
NM_000202.7(IDS):c.925A>G (p.Thr309Ala) rs145807417
NM_000203.3(IDUA):c.245A>C (p.His82Pro) rs794727239
NM_000203.4(IDUA):c.1081G>A (p.Ala361Thr) rs6831280
NM_000203.4(IDUA):c.1163C>A (p.Thr388Lys) rs794727896
NM_000203.4(IDUA):c.1174C>T (p.Leu392=) rs201682298
NM_000203.4(IDUA):c.1225G>C (p.Gly409Arg) rs11934801
NM_000203.4(IDUA):c.1230C>G (p.Thr410=) rs115790973
NM_000203.4(IDUA):c.191_192del rs794727240
NM_000203.4(IDUA):c.234C>T (p.Gly78=) rs138932617
NM_000203.4(IDUA):c.235G>A (p.Ala79Thr) rs58037052
NM_000203.4(IDUA):c.246C>G (p.His82Gln) rs148775298
NM_000203.4(IDUA):c.299+6C>T rs147498923
NM_000203.4(IDUA):c.299+7G>A rs200911718
NM_000203.4(IDUA):c.314G>A (p.Arg105Gln) rs3755955
NM_000203.4(IDUA):c.352C>T (p.Leu118=) rs3755954
NM_000203.4(IDUA):c.46_57delTCGCTCCTGGCC (p.Ser16_Ala19del) rs398123260
NM_000203.4(IDUA):c.53T>C (p.Leu18Pro) rs794726878
NM_000203.4(IDUA):c.891C>T (p.Asn297=) rs114806891
NM_000203.5(IDUA):c.1345C>A (p.His449Asn) rs532731688
NM_000203.5(IDUA):c.1650+5G>A rs398123256
NM_000203.5(IDUA):c.299+1G>T rs398123259
NM_000208.3(INSR):c.190T>C (p.Leu64=) rs144836032
NM_000208.3(INSR):c.2243C>T (p.Ser748Leu) rs143523271
NM_000208.3(INSR):c.2838C>G (p.Asp946Glu) rs146588336
NM_000208.3(INSR):c.3034G>A (p.Val1012Met) rs1799816
NM_000208.3(INSR):c.3193C>G (p.Leu1065Val) rs56395521
NM_000208.3(INSR):c.959C>T (p.Thr320Met) rs138528064
NM_000209.3(PDX1):c.162G>A (p.Leu54=) rs28509441
NM_000209.3(PDX1):c.336C>G (p.Pro112=) rs149275902
NM_000209.3(PDX1):c.543C>T (p.Val181=) rs75498935
NM_000209.3(PDX1):c.726_728dupGCC (p.Pro244_Gly245insPro) rs193922357
NM_000214.2(JAG1):c.1043G>A (p.Arg348Lys) rs200227737
NM_000214.2(JAG1):c.1120+10A>G rs201711717
NM_000214.2(JAG1):c.1146C>T (p.Asn382=) rs200133928
NM_000214.3(JAG1):c.133G>T (p.Val45Leu) rs183974372
NM_000214.3(JAG1):c.1511A>G (p.Asn504Ser) rs527236046
NM_000214.3(JAG1):c.1628G>A (p.Arg543His) rs544877858
NM_000214.3(JAG1):c.1826C>T (p.Ser609Leu) rs199505265
NM_000214.3(JAG1):c.1866G>A (p.Thr622=) rs140624746
NM_000214.3(JAG1):c.1920C>T (p.Asn640=) rs372121353
NM_000214.3(JAG1):c.2043G>A (p.Thr681=) rs151291264
NM_000214.3(JAG1):c.2073T>C (p.Cys691=) rs200648035
NM_000214.3(JAG1):c.2286C>T (p.Asn762=) rs144190443
NM_000214.3(JAG1):c.2329C>T (p.Pro777Ser) rs202063628
NM_000214.3(JAG1):c.2429C>T (p.Pro810Leu) rs769531968
NM_000214.3(JAG1):c.2612C>G (p.Pro871Arg) rs35761929
NM_000214.3(JAG1):c.2682+8A>G rs560065330
NM_000214.3(JAG1):c.270G>T (p.Gly90=) rs114048678
NM_000214.3(JAG1):c.2778C>T (p.Phe926=) rs147793030
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln) rs145895196
NM_000214.3(JAG1):c.2917-7G>A rs201573066
NM_000214.3(JAG1):c.294C>T (p.Ser98=) rs79338570
NM_000214.3(JAG1):c.388-4G>C rs567027490
NM_000214.3(JAG1):c.399G>A (p.Thr133=) rs763154396
NM_000214.3(JAG1):c.439+10G>A rs201371037
NM_000214.3(JAG1):c.814G>A (p.Val272Ile) rs148990028
NM_000214.3(JAG1):c.894T>C (p.Asn298=) rs149897344
NM_000217.3(KCNA1):c.1327C>G (p.Arg443Gly) rs150849316
NM_000217.3(KCNA1):c.1440T>A (p.Thr480=) rs4766309
NM_000218.2(KCNQ1):c.-5T>C rs532941548
NM_000218.2(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457
NM_000218.2(KCNQ1):c.1343C>G (p.Pro448Arg) rs12720449
NM_000218.2(KCNQ1):c.160_168dupATCGCGCCC (p.Pro56_Gly57insIleAlaPro) rs397515877
NM_000218.2(KCNQ1):c.1637C>T (p.Ser546Leu) rs199473480
NM_000218.2(KCNQ1):c.1875C>T (p.Pro625=) rs112113213
NM_000218.2(KCNQ1):c.1927G>A (p.Gly643Ser) rs1800172
NM_000218.2(KCNQ1):c.1942G>A (p.Val648Ile) rs34150427
NM_000218.2(KCNQ1):c.386+14C>T rs370023636
NM_000218.2(KCNQ1):c.447C>T (p.Ala149=) rs146436765
NM_000218.2(KCNQ1):c.759C>T (p.Ser253=) rs752457145
NM_000218.2(KCNQ1):c.879C>A (p.Arg293=) rs181106858
NM_000219.5(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000219.5(KCNE1):c.30G>A (p.Thr10=) rs187686559
NM_000219.5(KCNE1):c.84G>A (p.Ser28=) rs17173510
NM_000222.2(KIT):c.2446G>C (p.Asp816His) rs121913506
NM_000227.4(LAMA3):c.4526G>A (p.Ser1509Asn) rs61749943
NM_000228.2(LAMB3):c.1188C>T (p.Thr396=) rs115883756
NM_000231.2(SGCG):c.*13C>T rs9510701
NM_000231.2(SGCG):c.*254G>A rs3751371
NM_000231.2(SGCG):c.-6T>C rs141771521
NM_000231.2(SGCG):c.1-8C>T rs745599370
NM_000231.2(SGCG):c.102C>T (p.Arg34=) rs140810408
NM_000231.2(SGCG):c.195+1G>C rs200502077
NM_000231.2(SGCG):c.195+4_195+7delAGTA rs797045106
NM_000231.2(SGCG):c.228T>C (p.Asp76=) rs1800350
NM_000231.2(SGCG):c.267A>G (p.Pro89=) rs149595403
NM_000231.2(SGCG):c.347G>A (p.Arg116His) rs17314986
NM_000231.2(SGCG):c.414A>G (p.Gln138=) rs770596449
NM_000231.2(SGCG):c.506-7T>G rs774582375
NM_000231.2(SGCG):c.507G>T (p.Gly169=) rs199905729
NM_000231.2(SGCG):c.579-21_579-20delTG rs769893030
NM_000231.2(SGCG):c.581T>C (p.Leu194Ser) rs547818652
NM_000231.2(SGCG):c.705T>C (p.Leu235=) rs1800353
NM_000231.2(SGCG):c.787G>A (p.Glu263Lys) rs104894423
NM_000231.2(SGCG):c.832G>A (p.Gly278Ser) rs147820869
NM_000232.4(SGCB):c.-10_22dup rs1553940963
NM_000232.4(SGCB):c.1_2delAT (p.Met1Glyfs) rs886042503
NM_000232.4(SGCB):c.272G>T (p.Arg91Leu) rs104893869
NM_000232.4(SGCB):c.29_33del5 (p.Glu10Alafs) rs1057517064
NM_000232.4(SGCB):c.31C>T (p.Gln11Ter) rs752492870
NM_000232.4(SGCB):c.341C>T (p.Ser114Phe) rs150518260
NM_000232.4(SGCB):c.452C>G (p.Thr151Arg) rs28936383
NM_000232.4(SGCB):c.768C>T (p.Ile256=) rs149121189
NM_000232.4(SGCB):c.799C>T (p.Arg267Cys) rs200761715
NM_000232.4(SGCB):c.92G>T (p.Ser31Ile) rs115928999
NM_000232.4(SGCB):c.943G>A (p.Gly315Arg) rs150395645
NM_000232.4(SGCB):c.9_14dupAGCGGC (p.Ala9_Glu10insAlaAla) rs886044103
NM_000233.3(LHCGR):c.1360G>A (p.Val454Ile) rs114320052
NM_000235.3(LIPA):c.1009A>G (p.Thr337Ala) rs143793106
NM_000235.3(LIPA):c.1113A>G (p.Glu371=) rs116827211
NM_000235.3(LIPA):c.350_351insCC (p.Met117Ilefs) rs753796180
NM_000235.3(LIPA):c.539-6T>C rs201898154
NM_000235.3(LIPA):c.754A>T (p.Ile252Leu) rs147493628
NM_000235.3(LIPA):c.756A>C (p.Ile252=) rs145037134
NM_000235.3(LIPA):c.894G>A (p.Gln298=) rs116928232
NM_000237.3(LPL):c.106G>A (p.Asp36Asn) rs1801177
NM_000238.3(KCNH2):c.1320G>T (p.Pro440=) rs144926928
NM_000238.3(KCNH2):c.1528C>T (p.Leu510=) rs75648145
NM_000238.3(KCNH2):c.1563C>T (p.Ile521=) rs143011005
NM_000238.3(KCNH2):c.2331C>T (p.Thr777=) rs41307292
NM_000238.3(KCNH2):c.2948C>T (p.Thr983Ile) rs149955375
NM_000238.3(KCNH2):c.3111C>T (p.Asp1037=) rs200799870
NM_000238.3(KCNH2):c.3152+12C>A rs72549420
NM_000238.3(KCNH2):c.442C>T (p.Arg148Trp) rs139544114
NM_000238.3(KCNH2):c.51C>G (p.Thr17=) rs144338227
NM_000240.3(MAOA):c.1410T>C (p.Asp470=) rs1137070
NM_000240.3(MAOA):c.385A>C (p.Arg129=) rs1800464
NM_000240.3(MAOA):c.825G>A (p.Pro275=) rs138703731
NM_000240.3(MAOA):c.891G>T (p.Arg297=) rs6323
NM_000243.2(MEFV):c.1105C>T (p.Pro369Ser) rs11466023
NM_000243.2(MEFV):c.1223G>A (p.Arg408Gln) rs11466024
NM_000243.2(MEFV):c.1318C>G (p.Gln440Glu) rs11466026
NM_000243.2(MEFV):c.1587+33C>G rs146820856
NM_000243.2(MEFV):c.1772T>C (p.Ile591Thr) rs11466045
NM_000243.2(MEFV):c.2080A>G (p.Met694Val) rs61752717
NM_000243.2(MEFV):c.2082G>A (p.Met694Ile) rs28940578
NM_000243.2(MEFV):c.2084A>G rs104895094
NM_000243.2(MEFV):c.2177T>C (p.Val726Ala) rs28940579
NM_000243.2(MEFV):c.2230G>T rs61732874
NM_000243.2(MEFV):c.2282G>A (p.Arg761His) rs104895097
NM_000243.2(MEFV):c.306T>C (p.Asp102=) rs224225
NM_000243.2(MEFV):c.329T>C (p.Leu110Pro) rs11466018
NM_000243.2(MEFV):c.333G>A (p.Gly111=) rs61732425
NM_000243.2(MEFV):c.414A>G (p.Gly138=) rs224224
NM_000243.2(MEFV):c.442G>C (p.Glu148Gln) rs3743930
NM_000243.2(MEFV):c.495C>A (p.Ala165=) rs224223
NM_000243.2(MEFV):c.585G>A (p.Glu195=) rs200766991
NM_000243.2(MEFV):c.586G>T (p.Gly196Trp) rs104895179
NM_000243.2(MEFV):c.605G>A (p.Arg202Gln) rs224222
NM_000243.2(MEFV):c.932C>T (p.Ala311Val) rs74346519
NM_000244.3(MEN1):c.1269C>T (p.Asp423=) rs2071313
NM_000245.3(MET):c.1019A>G (p.Asp340Gly) rs200690492
NM_000245.3(MET):c.1124A>G (p.Asn375Ser) rs33917957
NM_000245.3(MET):c.2908C>T (p.Arg970Cys) rs34589476
NM_000245.3(MET):c.2975C>T (p.Thr992Ile) rs56391007
NM_000245.3(MET):c.504G>T (p.Glu168Asp) rs55985569
NM_000245.3(MET):c.948A>G (p.Ile316Met) rs35225896
NM_000246.3(CIITA):c.2888+1G>A rs372826934
NM_000248.3(MITF):c.959T>C (p.Val320Ala) rs2055006
NM_000249.3(MLH1):c.1038+51C>T rs55986674
NM_000249.3(MLH1):c.1039-8T>A rs193922367
NM_000249.3(MLH1):c.1039-8del rs57509953
NM_000249.3(MLH1):c.1217G>A (p.Ser406Asn) rs41294980
NM_000249.3(MLH1):c.1517T>C (p.Val506Ala) rs63749909
NM_000249.3(MLH1):c.1558+14G>A rs41562513
NM_000249.3(MLH1):c.1668-19A>G rs9876116
NM_000249.3(MLH1):c.1732-19T>A rs77120160
NM_000249.3(MLH1):c.1852A>G (p.Lys618Glu) rs35001569
NM_000249.3(MLH1):c.1853A>C (p.Lys618Thr) rs63750449
NM_000249.3(MLH1):c.1959G>T (p.Leu653=) rs1800146
NM_000249.3(MLH1):c.1963A>G (p.Ile655Val) rs55907433
NM_000249.3(MLH1):c.2146G>A (p.Val716Met) rs35831931
NM_000249.3(MLH1):c.2152C>T (p.His718Tyr) rs2020873
NM_000249.3(MLH1):c.222T>C (p.Asp74=) rs755073786
NM_000249.3(MLH1):c.474C>T (p.Asn158=) rs4647256
NM_000249.3(MLH1):c.588+11G>C rs4647258
NM_000249.3(MLH1):c.637G>A (p.Val213Met) rs2308317
NM_000249.3(MLH1):c.655A>G (p.Ile219Val) rs1799977
NM_000249.3(MLH1):c.885-16_885-15delCT rs267607804
NM_000251.2(MSH2):c.-9G>C rs547444746
NM_000251.2(MSH2):c.1077-10T>C rs17224360
NM_000251.2(MSH2):c.1168C>T (p.Leu390Phe) rs17224367
NM_000251.2(MSH2):c.1275A>G (p.Glu425=) rs63751650
NM_000251.2(MSH2):c.1277-8T>C rs145400590
NM_000251.2(MSH2):c.1511-9A>T rs12998837
NM_000251.2(MSH2):c.1661+12G>A rs3732183
NM_000251.2(MSH2):c.1666T>C (p.Leu556=) rs61756466
NM_000251.2(MSH2):c.2005+1G>A rs267607986
NM_000251.2(MSH2):c.2006-6T>C rs2303428
NM_000251.2(MSH2):c.211+9C>G rs2303426
NM_000251.2(MSH2):c.2400A>G (p.Leu800=) rs201298777
NM_000251.2(MSH2):c.339G>A (p.Lys113=) rs35898375
NM_000251.2(MSH2):c.380A>G (p.Asn127Ser) rs17217772
NM_000251.2(MSH2):c.481G>A (p.Val161Ile) rs149511545
NM_000251.2(MSH2):c.557A>G (p.Asn186Ser) rs151129360
NM_000252.2(MTM1):c.1052A>G (p.Lys351Arg) rs150430628
NM_000252.2(MTM1):c.1260+3G>A rs222410
NM_000252.2(MTM1):c.1291G>A (p.Asp431Asn) rs886044782
NM_000252.2(MTM1):c.688T>C (p.Trp230Arg) rs398123274
NM_000253.3(MTTP):c.1151A>C (p.Asp384Ala) rs17029215
NM_000253.3(MTTP):c.2433G>C (p.Leu811Phe) rs144590904
NM_000253.3(MTTP):c.2673C>T (p.Ser891=) rs115222767
NM_000253.3(MTTP):c.285G>C (p.Gln95His) rs61733139
NM_000253.3(MTTP):c.383T>C (p.Ile128Thr) rs3816873
NM_000253.3(MTTP):c.453T>C (p.Gly151=) rs991811
NM_000254.2(MTR):c.3518C>T (p.Pro1173Leu) rs121913578
NM_000254.2(MTR):c.858C>T (p.Pro286=) rs146019467
NM_000255.3(MMUT):c.1084-10A>G rs777031588
NM_000255.3(MMUT):c.1125G>A (p.Met375Ile) rs148091558
NM_000255.3(MMUT):c.1495G>A (p.Ala499Thr) rs2229385
NM_000255.3(MMUT):c.1595G>A (p.Arg532His) rs1141321
NM_000255.3(MMUT):c.1629C>T (p.Ser543=) rs150642856
NM_000255.3(MMUT):c.1852_1854delCTT (p.Leu618del) rs398123277
NM_000255.3(MMUT):c.205A>G (p.Ile69Val) rs115923556
NM_000255.3(MMUT):c.393G>A (p.Gln131=) rs145682249
NM_000255.3(MMUT):c.461G>A (p.Arg154His) rs142068898
NM_000255.3(MMUT):c.711A>G (p.Pro237=) rs138085432
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg) rs201278114
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg) rs35736435
NM_000256.3(MYBPC3):c.1641_1642delGT (p.Tyr548Profs) rs398123279
NM_000256.3(MYBPC3):c.1790+7G>A rs374852831
NM_000256.3(MYBPC3):c.2429G>A (p.Arg810His) rs375675796
NM_000256.3(MYBPC3):c.2458C>T (p.Arg820Trp) rs775404728
NM_000256.3(MYBPC3):c.246T>C (p.Ile82=) rs372502369
NM_000256.3(MYBPC3):c.2498C>T (p.Ala833Val) rs3729952
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470
NM_000256.3(MYBPC3):c.2737+5G>A rs398123280
NM_000256.3(MYBPC3):c.2833_2834delCG (p.Arg945Glyfs) rs397515987
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser) rs193922380
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) rs11570112
NM_000256.3(MYBPC3):c.3279C>T (p.Gly1093=) rs36212064
NM_000256.3(MYBPC3):c.506-12delC rs11570050
NM_000256.3(MYBPC3):c.706A>G (p.Ser236Gly) rs3729989
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074
NM_000257.3(MYH7):c.1000-7C>T rs200129563
NM_000257.3(MYH7):c.114C>T (p.Phe38=) rs146210693
NM_000257.3(MYH7):c.1191G>A (p.Lys397=) rs139506719
NM_000257.3(MYH7):c.1755C>T (p.Ile585=) rs201860580
NM_000257.3(MYH7):c.2052G>A (p.Met684Ile) rs727503262
NM_000257.3(MYH7):c.2389G>A (p.Ala797Thr) rs3218716
NM_000257.3(MYH7):c.2472C>T (p.Val824=) rs397516150
NM_000257.3(MYH7):c.2890G>C (p.Val964Leu) rs45496496
NM_000257.3(MYH7):c.4182C>T (p.Ala1394=) rs765895405
NM_000257.3(MYH7):c.4353+10G>A rs202205780
NM_000257.3(MYH7):c.4806C>T (p.Asp1602=) rs142034311
NM_000257.3(MYH7):c.5361A>G (p.Glu1787=) rs201171029
NM_000257.3(MYH7):c.5452C>T (p.Arg1818Trp) rs763073072
NM_000257.3(MYH7):c.5458C>T (p.Arg1820Trp) rs145734640
NM_000257.3(MYH7):c.5656-8dupT rs886042307
NM_000257.3(MYH7):c.611G>T (p.Arg204Leu) rs397516260
NM_000257.3(MYH7):c.714C>T (p.Asn238=) rs202141819
NM_000257.4(MYH7):c.2162+4G>A rs145738465
NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp) rs121913632
NM_000257.4(MYH7):c.2514G>A (p.Pro838=) rs45560638
NM_000257.4(MYH7):c.2769C>T (p.Asn923=) rs36211716
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) rs145532615
NM_000257.4(MYH7):c.297C>T (p.Pro99=) rs140245862
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=) rs145379951
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=) rs45540831
NM_000257.4(MYH7):c.3337-3dup rs45504498
NM_000257.4(MYH7):c.3351G>A (p.Glu1117=) rs45554236
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101
NM_000257.4(MYH7):c.4452C>T (p.Leu1484=) rs61737803
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys) rs3729823
NM_000257.4(MYH7):c.4689G>A (p.Leu1563=) rs770477774
NM_000257.4(MYH7):c.4974C>T (p.Asp1658=) rs374289523
NM_000257.4(MYH7):c.5736C>T (p.Ile1912=) rs200728597
NM_000258.2(MYL3):c.81T>C (p.Pro27=) rs147584015
NM_000260.3(MYO7A):c.1208A>G (p.Tyr403Cys) rs797044511
NM_000260.3(MYO7A):c.133-7C>T rs111033221
NM_000260.3(MYO7A):c.1554+7C>T rs150114658
NM_000260.3(MYO7A):c.1554+8G>A rs111033227
NM_000260.3(MYO7A):c.1605C>T (p.Asn535=) rs111033228
NM_000260.3(MYO7A):c.1854G>A (p.Leu618=) rs35429535
NM_000260.3(MYO7A):c.2005C>T (p.Arg669Ter) rs111033201
NM_000260.3(MYO7A):c.2035G>A (p.Val679Ile) rs35641839
NM_000260.3(MYO7A):c.2236G>A (p.Asp746Asn) rs36090425
NM_000260.3(MYO7A):c.2447G>A (p.Arg816His) rs148343670
NM_000260.3(MYO7A):c.2617C>T (p.Arg873Trp) rs200454015
NM_000260.3(MYO7A):c.2886G>C (p.Gln962His) rs200641606
NM_000260.3(MYO7A):c.3086A>G (p.His1029Arg) rs60103800
NM_000260.3(MYO7A):c.3476G>T (p.Gly1159Val) rs199897298
NM_000260.3(MYO7A):c.3527G>A (p.Ser1176Asn) rs373147966
NM_000260.3(MYO7A):c.3750+7G>A rs397516305
NM_000260.3(MYO7A):c.3750+9G>A rs111033252
NM_000260.3(MYO7A):c.4074C>T (p.Ser1358=) rs78996818
NM_000260.3(MYO7A):c.4441+7C>T rs372493678
NM_000260.3(MYO7A):c.4461C>T (p.Asn1487=) rs56174006
NM_000260.3(MYO7A):c.4544_4551delAGATCATGinsCA (p.Glu1515_Met1517delinsAla) rs111033259
NM_000260.3(MYO7A):c.4589C>T (p.Ser1530Leu) rs111033183
NM_000260.3(MYO7A):c.468C>T (p.Ile156=) rs12420129
NM_000260.3(MYO7A):c.4697C>T (p.Thr1566Met) rs41298747
NM_000260.3(MYO7A):c.4757A>G (p.Asn1586Ser) rs201251963
NM_000260.3(MYO7A):c.47T>C (p.Leu16Ser) rs1052030
NM_000260.3(MYO7A):c.4805G>A (p.Arg1602Gln) rs139889944
NM_000260.3(MYO7A):c.4845C>A (p.Pro1615=) rs61900036
NM_000260.3(MYO7A):c.4851C>T (p.Pro1617=) rs372535399
NM_000260.3(MYO7A):c.4992C>T (p.Thr1664=) rs181573957
NM_000260.3(MYO7A):c.510G>A (p.Leu170=) rs34477144
NM_000260.3(MYO7A):c.5156A>G (p.Tyr1719Cys) rs77625410
NM_000260.3(MYO7A):c.5169-6C>T rs768594224
NM_000260.3(MYO7A):c.5215C>A (p.Arg1739=) rs111033477
NM_000260.3(MYO7A):c.5227C>A (p.Arg1743=) rs111033287
NM_000260.3(MYO7A):c.5227C>T (p.Arg1743Trp) rs111033287
NM_000260.3(MYO7A):c.5253G>T (p.Pro1751=) rs377388669
NM_000260.3(MYO7A):c.5324T>C (p.Ile1775Thr) rs115123584
NM_000260.3(MYO7A):c.5598C>A (p.Leu1866=) rs111033504
NM_000260.3(MYO7A):c.5618G>A (p.Arg1873Gln) rs397516322
NM_000260.3(MYO7A):c.5688G>A (p.Gln1896=) rs570316231
NM_000260.3(MYO7A):c.5835C>T (p.Leu1945=) rs111033476
NM_000260.3(MYO7A):c.5866G>A (p.Val1956Ile) rs142293185
NM_000260.3(MYO7A):c.5968C>T (p.Gln1990Ter) rs773844428
NM_000260.3(MYO7A):c.6165C>T (p.Ser2055=) rs397516327
NM_000260.3(MYO7A):c.6214G>A (p.Val2072Ile) rs200313391
NM_000260.3(MYO7A):c.6326C>T (p.Thr2109Ile) rs377670513
NM_000260.3(MYO7A):c.6424G>A (p.Asp2142Asn) rs1132036
NM_000260.3(MYO7A):c.6614_6634dup21 (p.Ser2211_Arg2212insMetSerLysGlnArgGlySer) rs111033388
NM_000260.3(MYO7A):c.803A>G (p.Lys268Arg) rs184866544
NM_000260.3(MYO7A):c.849+7C>G rs370740228
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His) rs45629132
NM_000260.4(MYO7A):c.905G>A (p.Arg302His) rs41298135
NM_000261.1(MYOC):c.227G>A (p.Arg76Lys) rs2234926
NM_000261.1(MYOC):c.855G>T (p.Thr285=) rs146606638
NM_000262.2(NAGA):c.973G>A (p.Glu325Lys) rs121434529
NM_000263.3(NAGLU):c.1515C>T (p.Ser505=) rs112751577
NM_000263.3(NAGLU):c.2021G>A (p.Arg674His) rs104894590
NM_000263.3(NAGLU):c.2209C>A (p.Arg737Ser) rs86312
NM_000263.3(NAGLU):c.383+1G>T rs727504028
NM_000263.3(NAGLU):c.764+19C>G rs77738617
NM_000263.3(NAGLU):c.889C>T (p.Arg297Ter) rs104894592
NM_000264.3(PTCH1):c.2183C>T (p.Thr728Met) rs115556836
NM_000264.3(PTCH1):c.3944C>T (p.Pro1315Leu) rs357564
NM_000264.4(PTCH1):c.-6_-4dup rs71366293
NM_000264.4(PTCH1):c.-9_-4delGGCGGC rs71366293
NM_000264.4(PTCH1):c.1913G>A (p.Arg638His) rs145766839
NM_000264.4(PTCH1):c.3583A>T (p.Thr1195Ser) rs2236405
NM_000264.4(PTCH1):c.3624C>T (p.Ala1208=) rs149691476
NM_000264.4(PTCH1):c.4048C>T (p.Arg1350Trp) rs140417636
NM_000264.4(PTCH1):c.4080C>T (p.Ser1360=) rs62637631
NM_000266.3(NDP):c.155T>A (p.Leu52Ter) rs886043097
NM_000268.3(NF2):c.107A>G (p.Asn36Ser) rs372279458
NM_000268.3(NF2):c.1123-6C>T rs147898623
NM_000271.4(NPC1):c.1142G>A (p.Trp381Ter) rs794727897
NM_000271.4(NPC1):c.1210C>T (p.Arg404Trp) rs1298238512
NM_000271.4(NPC1):c.1232G>A (p.Arg411Gln) rs77080672
NM_000271.4(NPC1):c.1300C>T (p.Pro434Ser) rs61731962
NM_000271.4(NPC1):c.1503C>T (p.Asp501=) rs116046557
NM_000271.4(NPC1):c.1532C>T (p.Thr511Met) rs13381670
NM_000271.4(NPC1):c.1553G>A (p.Arg518Gln) rs483352886
NM_000271.4(NPC1):c.1920delG (p.His641Thrfs) rs886042270
NM_000271.4(NPC1):c.1926G>C (p.Met642Ile) rs1788799
NM_000271.4(NPC1):c.1947+10G>C rs71534236
NM_000271.4(NPC1):c.1947+13_1947+16dupGGGG rs3837910
NM_000271.4(NPC1):c.1947+14G>T rs3745024
NM_000271.4(NPC1):c.1947+14_1947+15insC rs201170241
NM_000271.4(NPC1):c.1947+16dupG rs3837910
NM_000271.4(NPC1):c.1947+5G>C rs770321568
NM_000271.4(NPC1):c.1947+7_1947+8insCGGG rs1555634618
NM_000271.4(NPC1):c.1947+7_1947+8insCGGGG rs1555634618
NM_000271.4(NPC1):c.1947+8G>C rs66620415
NM_000271.4(NPC1):c.1947+9_1947+10insAGGG rs772150994
NM_000271.4(NPC1):c.2073G>A (p.Pro691=) rs113013085
NM_000271.4(NPC1):c.2103C>T (p.Asn701=) rs7227375
NM_000271.4(NPC1):c.2201G>T (p.Ser734Ile) rs757475924
NM_000271.4(NPC1):c.2501T>C (p.Met834Thr) rs373435883
NM_000271.4(NPC1):c.2514+6C>T rs73392120
NM_000271.4(NPC1):c.2572A>G (p.Ile858Val) rs1805082
NM_000271.4(NPC1):c.2604+1G>A rs1555633454
NM_000271.4(NPC1):c.2621A>T (p.Asp874Val) rs372030650
NM_000271.4(NPC1):c.2793C>T (p.Asn931=) rs1140458
NM_000271.4(NPC1):c.2795+19T>C rs200103695
NM_000271.4(NPC1):c.2819C>T (p.Ser940Leu) rs143124972
NM_000271.4(NPC1):c.2882A>G (p.Asn961Ser) rs34084984
NM_000271.4(NPC1):c.2932C>T (p.Arg978Cys) rs28942108
NM_000271.4(NPC1):c.2973_2974delGGinsAT (p.Gly992Trp) rs1555632971
NM_000271.4(NPC1):c.2974G>C (p.Gly992Arg) rs80358254
NM_000271.4(NPC1):c.2974G>T (p.Gly992Trp) rs80358254
NM_000271.4(NPC1):c.3011C>T (p.Ser1004Leu) rs150334966
NM_000271.4(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257
NM_000271.4(NPC1):c.3104C>T (p.Ala1035Val) rs28942107
NM_000271.4(NPC1):c.3107C>T (p.Thr1036Met) rs28942104
NM_000271.4(NPC1):c.3182T>C (p.Ile1061Thr) rs80358259
NM_000271.4(NPC1):c.3198C>T (p.Thr1066=) rs145145840
NM_000271.4(NPC1):c.3217G>A (p.Gly1073Ser) rs141440861
NM_000271.4(NPC1):c.3331C>T (p.Leu1111=) rs151125564
NM_000271.4(NPC1):c.3343G>T (p.Val1115Phe) rs34226296
NM_000271.4(NPC1):c.3493G>A (p.Val1165Met) rs748862167
NM_000271.4(NPC1):c.3557G>A (p.Arg1186His) rs200444084
NM_000271.4(NPC1):c.3561G>T (p.Ala1187=) rs55724504
NM_000271.4(NPC1):c.3570_3573dupACTT (p.Ala1192Thrfs) rs750323164
NM_000271.4(NPC1):c.3598A>G (p.Ser1200Gly) rs35248744
NM_000271.4(NPC1):c.3614C>A (p.Thr1205Lys) rs758902805
NM_000271.4(NPC1):c.3717C>T (p.His1239=) rs34624018
NM_000271.4(NPC1):c.3734_3735delCT (p.Pro1245Argfs) rs1064794009
NM_000271.4(NPC1):c.3797G>A (p.Arg1266Gln) rs1805084
NM_000271.4(NPC1):c.387T>C (p.Tyr129=) rs12970899
NM_000271.4(NPC1):c.501A>G (p.Ser167=) rs202148667
NM_000271.4(NPC1):c.530G>A (p.Cys177Tyr) rs80358252
NM_000271.4(NPC1):c.612C>T (p.Thr204=) rs151084683
NM_000271.4(NPC1):c.644A>G (p.His215Arg) rs1805081
NM_000271.4(NPC1):c.665A>G (p.Asn222Ser) rs55680026
NM_000271.4(NPC1):c.66A>G (p.Ser22=) rs144415945
NM_000271.4(NPC1):c.688_693delTCTGTG (p.Ser230_Val231del) rs758687942
NM_000271.4(NPC1):c.709C>T (p.Pro237Ser) rs80358251
NM_000272.3(NPHP1):c.1121C>T (p.Thr374Ile) rs140469160
NM_000272.3(NPHP1):c.115C>A (p.Pro39Thr) rs33958626
NM_000272.3(NPHP1):c.133A>C (p.Ile45Leu) rs145479679
NM_000272.3(NPHP1):c.1437+9G>A rs13414551
NM_000272.3(NPHP1):c.1438-4C>T rs151204566
NM_000272.3(NPHP1):c.14G>T (p.Arg5Leu) rs190983114
NM_000272.3(NPHP1):c.1637G>A (p.Arg546Lys) rs149887461
NM_000272.3(NPHP1):c.1698-10delT rs779032904
NM_000272.3(NPHP1):c.2081A>G (p.Gln694Arg) rs186950965
NM_000272.3(NPHP1):c.2118G>A (p.Leu706=) rs144850331
NM_000272.3(NPHP1):c.232T>C (p.Tyr78His) rs140446520
NM_000272.3(NPHP1):c.625-3dup rs200118387
NM_000272.3(NPHP1):c.654G>A (p.Glu218=) rs11675767
NM_000272.3(NPHP1):c.810C>T (p.Cys270=) rs73954628
NM_000272.3(NPHP1):c.829C>A (p.Arg277=) rs367600757
NM_000272.3(NPHP1):c.830G>A (p.Arg277Gln) rs143174377
NM_000272.3(NPHP1):c.940-17G>A rs146343637
NM_000273.2(GPR143):c.371A>G (p.Gln124Arg) rs62635032
NM_000275.2(OCA2):c.1113C>T (p.Gly371=) rs1800405
NM_000275.2(OCA2):c.1183A>C (p.Met395Leu) rs757286784
NM_000275.2(OCA2):c.1256G>A (p.Arg419Gln) rs1800407
NM_000275.2(OCA2):c.1320G>C (p.Leu440Phe) rs1800408
NM_000275.2(OCA2):c.1322A>G (p.Asp441Gly) rs147816326
NM_000275.2(OCA2):c.1327G>A (p.Val443Ile) rs121918166
NM_000275.2(OCA2):c.1752C>T (p.His584=) rs151225947
NM_000275.2(OCA2):c.2020C>G (p.Leu674Val) rs371412500
NM_000275.2(OCA2):c.2207C>T (p.Ser736Leu) rs780296175
NM_000275.2(OCA2):c.2228C>T (p.Pro743Leu) rs121918167
NM_000275.2(OCA2):c.2425T>A (p.Phe809Ile) rs765779905
NM_000275.2(OCA2):c.574-19A>G rs145242923
NM_000275.2(OCA2):c.593C>T (p.Pro198Leu) rs183487020
NM_000275.2(OCA2):c.619_636del18 (p.Leu207_Leu212del) rs767489236
NM_000275.2(OCA2):c.722C>G (p.Pro241Arg) rs2305253
NM_000275.2(OCA2):c.79G>A (p.Gly27Arg) rs61738394
NM_000275.2(OCA2):c.819_822delCTGGinsGGTC (p.Asn273_Trp274delinsLysVal) rs797044784
NM_000275.2(OCA2):c.913C>T (p.Arg305Trp) rs1800401
NM_000276.3(OCRL):c.1498C>G (p.Arg500Gly) rs398123287
NM_000276.3(OCRL):c.41C>T (p.Thr14Ile) rs61752970
NM_000276.3(OCRL):c.439+3A>G rs61752971
NM_000276.3(OCRL):c.952C>T (p.Arg318Cys) rs137853263
NM_000277.1(PAH):c.1045T>C (p.Ser349Pro) rs62508646
NM_000277.1(PAH):c.165T>G (p.Phe55Leu) rs199475598
NM_000277.1(PAH):c.204A>T (p.Arg68Ser) rs76394784
NM_000277.1(PAH):c.250G>T (p.Asp84Tyr) rs62514902
NM_000277.1(PAH):c.896T>G (p.Phe299Cys) rs62642933
NM_000277.2(PAH):c.1066-3C>T rs62507344
NM_000277.2(PAH):c.116_118del (p.Phe39del) rs199475565
NM_000277.2(PAH):c.1357_*2delTAAAG (p.Ter453Profs) rs794727086
NM_000277.2(PAH):c.165delT (p.Phe55Leufs) rs199475566
NM_000277.2(PAH):c.227A>G (p.Glu76Gly) rs62507347
NM_000277.2(PAH):c.284_286delTCA (p.Ile95del) rs62508727
NM_000277.2(PAH):c.357delC (p.Trp120Glyfs) rs794727619
NM_000277.2(PAH):c.440C>T (p.Pro147Leu) rs199475694
NM_000277.2(PAH):c.441+1G>A rs62517166
NM_000277.2(PAH):c.47_48delCT (p.Ser16Terfs) rs62642906
NM_000277.2(PAH):c.733G>C (p.Val245Leu) rs62508694
NM_000277.2(PAH):c.740G>T (p.Gly247Val) rs199475579
NM_000277.2(PAH):c.806delT (p.Ile269Thrfs) rs62508687
NM_000277.2(PAH):c.847A>T (p.Ile283Phe) rs62517168
NM_000277.2(PAH):c.913-7A>G rs62517165
NM_000277.2(PAH):c.974A>G (p.Tyr325Cys) rs62508578
NM_000277.3(PAH):c.1065+3A>G rs62508689
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly) rs5030856
NM_000277.3(PAH):c.1242C>T (p.Tyr414=) rs1801152
NM_000277.3(PAH):c.1243G>A (p.Asp415Asn) rs62644499
NM_000277.3(PAH):c.1278T>C (p.Asn426=) rs59326968
NM_000277.3(PAH):c.169G>A (p.Glu57Lys) rs140945592
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786
NM_000277.3(PAH):c.1A>G (p.Met1Val) rs62514891
NM_000277.3(PAH):c.355C>T (p.Pro119Ser) rs398123292
NM_000277.3(PAH):c.441+5G>T rs62507321
NM_000277.3(PAH):c.464G>C (p.Arg155Pro) rs199475663
NM_000277.3(PAH):c.500A>T (p.Asn167Ile) rs77554925
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679
NM_000277.3(PAH):c.520A>G (p.Ile174Val) rs199475632
NM_000277.3(PAH):c.535T>A (p.Tyr179Asn) rs199475671
NM_000277.3(PAH):c.638T>C (p.Leu213Pro) rs62516109
NM_000277.3(PAH):c.707-7A>T rs62508624
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747
NM_000277.3(PAH):c.754C>T (p.Arg252Trp) rs5030847
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849
NM_000277.3(PAH):c.805A>C (p.Ile269Leu) rs62508692
NM_000277.3(PAH):c.841C>T (p.Pro281Ser) rs199475654
NM_000277.3(PAH):c.842+3G>C rs62507324
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851
NM_000277.3(PAH):c.926C>T (p.Ala309Val) rs62642935
NM_000280.4(PAX6):c.1137A>C (p.Thr379=) rs143477661
NM_000280.4(PAX6):c.1268A>T (p.Ter423Leu) rs121907922
NM_000280.4(PAX6):c.52G>C (p.Gly18Arg) rs886044289
NM_000280.4(PAX6):c.622C>T (p.Arg208Trp) rs757259413
NM_000280.4(PAX6):c.990G>A (p.Pro330=) rs146261351
NM_000282.3(PCCA):c.1423A>G (p.Ile475Val) rs35719359
NM_000282.3(PCCA):c.1429+7A>G rs16957276
NM_000282.3(PCCA):c.1788G>A (p.Trp596Ter) rs776496862
NM_000282.3(PCCA):c.300+20G>T rs371217257
NM_000282.3(PCCA):c.627A>G (p.Ala209=) rs538229
NM_000282.3(PCCA):c.775_779delCTAAT (p.Leu259Argfs) rs794726976
NM_000282.3(PCCA):c.802C>T (p.Arg268Cys) rs774738181
NM_000282.3(PCCA):c.937C>T (p.Arg313Ter) rs138149179
NM_000283.3(PDE6B):c.132C>G (p.Cys44Trp) rs199974771
NM_000283.3(PDE6B):c.1401+7_1401+8insA rs537010934
NM_000283.3(PDE6B):c.2344G>A (p.Val782Met) rs145124626
NM_000283.3(PDE6B):c.615C>T (p.Asp205=) rs149293844
NM_000283.3(PDE6B):c.655T>C (p.Tyr219His) rs62295357
NM_000283.3(PDE6B):c.711+10C>T rs201100689
NM_000283.3(PDE6B):c.794G>A (p.Arg265Gln) rs144562730
NM_000283.3(PDE6B):c.905G>A (p.Gly302Asp) rs146646008
NM_000283.3(PDE6B):c.928-9_940dup rs1553809300
NM_000284.3(PDHA1):c.311T>C (p.Leu104Pro) rs794727621
NM_000284.3(PDHA1):c.507G>A (p.Ala169=) rs141862527
NM_000284.3(PDHA1):c.795A>G (p.Ala265=) rs1126565
NM_000284.3(PDHA1):c.844A>C (p.Met282Leu) rs2229137
NM_000286.2(PEX12):c.102A>T (p.Arg34Ser) rs147530802
NM_000286.2(PEX12):c.268_271delAAGA (p.Lys90Glufs) rs61752100
NM_000286.2(PEX12):c.451C>T (p.Arg151Cys) rs138731505
NM_000286.2(PEX12):c.681-2A>C rs187526749
NM_000286.2(PEX12):c.894delC (p.Met300Terfs) rs398123302
NM_000287.3(PEX6):c.1234-7_1234-6dupTT rs200121485
NM_000287.3(PEX6):c.1646C>T (p.Ala549Val) rs115960224
NM_000287.3(PEX6):c.1677C>A (p.Asp559Glu) rs61732159
NM_000287.3(PEX6):c.1802G>A (p.Arg601Gln) rs34324426
NM_000287.3(PEX6):c.207C>T (p.Pro69=) rs11539736
NM_000287.3(PEX6):c.210G>A (p.Gly70=) rs398123304
NM_000287.3(PEX6):c.235G>C (p.Ala79Pro) rs61752141
NM_000287.3(PEX6):c.2364G>A (p.Val788=) rs2274515
NM_000287.3(PEX6):c.2426C>T (p.Ala809Val) rs35830695
NM_000287.3(PEX6):c.2440C>T (p.Arg814Ter) rs267608241
NM_000287.3(PEX6):c.273G>A (p.Trp91Ter) rs1010184002
NM_000287.3(PEX6):c.311delG (p.Gly104Valfs) rs61753209
NM_000287.3(PEX6):c.330C>G (p.Thr110=) rs140486558
NM_000287.3(PEX6):c.813G>T (p.Ala271=) rs35503676
NM_000287.3(PEX6):c.853C>G (p.Pro285Ala) rs61753220
NM_000288.3(PEX7):c.339+10A>G rs374668045
NM_000288.3(PEX7):c.340-10A>G rs267608255
NM_000288.3(PEX7):c.377A>C (p.Gln126Pro) rs113268723
NM_000288.3(PEX7):c.615C>T (p.Asp205=) rs147298444
NM_000288.3(PEX7):c.748-5delT rs563675060
NM_000288.3(PEX7):c.875T>A (p.Leu292Ter) rs1805137
NM_000288.3(PEX7):c.903+1G>C rs148591292
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971
NM_000290.3(PGAM2):c.216C>T (p.Asp72=) rs111656877
NM_000290.3(PGAM2):c.233G>A (p.Trp78Ter) rs10250779
NM_000290.3(PGAM2):c.268C>T (p.Arg90Trp) rs104894034
NM_000291.3(PGK1):c.639C>T (p.Gly213=) rs797044505
NM_000292.2(PHKA2):c.1396G>A (p.Ala466Thr) rs144591812
NM_000292.2(PHKA2):c.742A>C (p.Arg248=) rs149219369
NM_000293.2(PHKB):c.518A>G (p.Asn173Ser) rs139738333
NM_000293.3(PHKB):c.1546C>T (p.Gln516Ter) rs758004953
NM_000295.4(SERPINA1):c.-10T>C rs11558258
NM_000295.4(SERPINA1):c.1078G>A (p.Ala360Thr) rs1802959
NM_000295.4(SERPINA1):c.1093G>A (p.Asp365Asn) rs143370956
NM_000295.4(SERPINA1):c.1177C>T (p.Pro393Ser) rs61761869
NM_000295.4(SERPINA1):c.171C>T (p.Phe57=) rs150784949
NM_000295.4(SERPINA1):c.336G>A (p.Pro112=) rs753313462
NM_000295.4(SERPINA1):c.43C>T (p.Leu15=) rs147283849
NM_000295.4(SERPINA1):c.514G>T (p.Gly172Trp) rs112030253
NM_000295.4(SERPINA1):c.646+1G>T rs751235320
NM_000295.4(SERPINA1):c.840T>C (p.Asp280=) rs1049800
NM_000295.4(SERPINA1):c.922G>T (p.Ala308Ser) rs141620200
NM_000297.3(PKD2):c.1094+3_1094+6delAAGT rs1553925470
NM_000297.3(PKD2):c.1359A>G (p.Pro453=) rs17013754
NM_000297.3(PKD2):c.1445T>G (p.Phe482Cys) rs75762896
NM_000297.3(PKD2):c.1549-4T>C rs374450718
NM_000297.3(PKD2):c.2411G>A (p.Ser804Asn) rs145343957
NM_000297.3(PKD2):c.2420G>A (p.Arg807Gln) rs147654263
NM_000297.3(PKD2):c.305_307dupAGG (p.Glu102_Val103insGlu) rs750077647
NM_000297.3(PKD2):c.420G>A (p.Gly140=) rs2728118
NM_000297.3(PKD2):c.568G>A (p.Ala190Thr) rs117078377
NM_000297.3(PKD2):c.83G>C (p.Arg28Pro) rs1805044
NM_000298.5(PKLR):c.1456C>T (p.Arg486Trp) rs116100695
NM_000302.3(PLOD1):c.1534C>T (p.Arg512Cys) rs138490756
NM_000303.2(PMM2):c.323C>T (p.Ala108Val) rs200503569
NM_000303.2(PMM2):c.338C>T (p.Pro113Leu) rs80338700
NM_000303.2(PMM2):c.357C>A (p.Phe119Leu) rs80338701
NM_000303.2(PMM2):c.385G>A (p.Val129Met) rs104894525
NM_000303.2(PMM2):c.415G>A (p.Glu139Lys) rs80338703
NM_000303.2(PMM2):c.422G>A (p.Arg141His) rs28936415
NM_000303.2(PMM2):c.442G>A (p.Asp148Asn) rs148032587
NM_000303.2(PMM2):c.563A>G (p.Asp188Gly) rs80338704
NM_000303.2(PMM2):c.590A>C (p.Glu197Ala) rs34258285
NM_000303.2(PMM2):c.623G>C (p.Gly208Ala) rs398123309
NM_000303.2(PMM2):c.647A>G (p.Asn216Ser) rs78290141
NM_000303.2(PMM2):c.691G>A (p.Val231Met) rs80338707
NM_000303.2(PMM2):c.710C>G (p.Thr237Arg) rs80338708
NM_000303.2(PMM2):c.710C>T (p.Thr237Met) rs80338708
NM_000303.2(PMM2):c.722G>C (p.Cys241Ser) rs80338709
NM_000303.2(PMM2):c.90C>G (p.Asp30Glu) rs201556985
NM_000303.2(PMM2):c.91T>C (p.Phe31Leu) rs749720760
NM_000303.2(PMM2):c.93C>T (p.Phe31=) rs61730638
NM_000303.2(PMM2):c.95_96delTAinsGC (p.Leu32Arg) rs398123312
NM_000303.3(PMM2):c.392del (p.Pro131Leufs) rs1555449607
NM_000304.3(PMP22):c.320-4C>T rs377467465
NM_000304.3(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000304.3(PMP22):c.448G>T (p.Gly150Cys) rs104894624
NM_000306.3(POU1F1):c.666-5G>A rs76296626
NM_000307.4(POU3F4):c.845G>T (p.Arg282Leu) rs1060499806
NM_000310.3(PPT1):c.*6G>A rs113082671
NM_000310.3(PPT1):c.29T>A (p.Leu10Ter) rs137852699
NM_000310.3(PPT1):c.363-4G>A rs117284255
NM_000310.3(PPT1):c.451C>T (p.Arg151Ter) rs137852700
NM_000310.3(PPT1):c.529C>G (p.Gln177Glu) rs386833650
NM_000310.3(PPT1):c.550G>A (p.Glu184Lys) rs386833655
NM_000310.3(PPT1):c.739T>C (p.Tyr247His) rs386833665
NM_000310.3(PPT1):c.810G>C (p.Gly270=) rs371213189
NM_000310.3(PPT1):c.904A>G (p.Ile302Val) rs146902902
NM_000314.4(PTEN):c.1104T>C (p.Asp368=) rs35979531
NM_000314.4(PTEN):c.700C>T (p.Arg234Trp) rs786201730
NM_000314.6(PTEN):c.-9C>G rs11202592
NM_000314.6(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.6(PTEN):c.132C>T (p.Gly44=) rs150651961
NM_000314.6(PTEN):c.165-13_165-10delGTTT rs786204877
NM_000314.6(PTEN):c.210-7_210-3del5 rs587780544
NM_000314.6(PTEN):c.254-30dupT rs77494260
NM_000314.6(PTEN):c.720C>T (p.Tyr240=) rs190070312
NM_000314.6(PTEN):c.802-4_802-3dupTT rs34003473
NM_000314.7(PTEN):c.-1084C>T rs538728843
NM_000314.7(PTEN):c.170T>G (p.Leu57Trp) rs786202398
NM_000314.7(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000314.7(PTEN):c.395G>A (p.Gly132Asp) rs121909241
NM_000316.2(PTH1R):c.313+4C>T rs200207404
NM_000318.2(PEX2):c.209A>G (p.Tyr70Cys) rs35689779
NM_000318.2(PEX2):c.339_345delCAGGTGG (p.Arg114Terfs) rs764771123
NM_000318.2(PEX2):c.748T>C (p.Trp250Arg) rs142645936
NM_000318.2(PEX2):c.91C>G (p.Gln31Glu) rs149287302
NM_000320.2(QDPR):c.96C>T (p.Ala32=) rs2518608
NM_000321.2(RB1):c.1072C>T (p.Arg358Ter) rs121913301
NM_000321.2(RB1):c.1363C>T (p.Arg455Ter) rs121913302
NM_000321.2(RB1):c.1390-14A>T rs9535023
NM_000321.2(RB1):c.1472T>C (p.Leu491Pro) rs587778848
NM_000321.2(RB1):c.1961-12T>C rs201697122
NM_000321.2(RB1):c.1966C>T (p.Arg656Trp) rs142509759
NM_000321.2(RB1):c.1981C>T (p.Arg661Trp) rs137853294
NM_000321.2(RB1):c.2212-16T>A rs201258424
NM_000321.2(RB1):c.2325+5G>A rs886042249
NM_000321.2(RB1):c.380+10C>G rs187110786
NM_000321.2(RB1):c.380+12T>C rs3092881
NM_000321.2(RB1):c.929G>A (p.Gly310Glu) rs200844292
NM_000322.4(PRPH2):c.*13C>T rs361524
NM_000322.4(PRPH2):c.1013A>G (p.Asp338Gly) rs434102
NM_000322.4(PRPH2):c.318T>C (p.Val106=) rs7764439
NM_000322.4(PRPH2):c.910C>G (p.Gln304Glu) rs390659
NM_000322.4(PRPH2):c.929G>A (p.Arg310Lys) rs425876
NM_000326.4(RLBP1):c.141+6G>A rs181321141
NM_000326.4(RLBP1):c.29T>A (p.Met10Lys) rs77384282
NM_000326.4(RLBP1):c.303C>T (p.Arg101=) rs144254383
NM_000326.4(RLBP1):c.346+3_346+8delGAGGCC rs56307321
NM_000326.4(RLBP1):c.545T>G (p.Phe182Cys) rs142244640
NM_000327.3(ROM1):c.686G>A (p.Arg229His) rs150168119
NM_000327.3(ROM1):c.812T>C (p.Met271Thr) rs137950927
NM_000327.3(ROM1):c.868delC (p.Gln290Lysfs) rs548233813
NM_000328.2(RPGR):c.141T>G (p.Ser47=) rs62638631
NM_000328.2(RPGR):c.732G>A (p.Lys244=) rs62638654
NM_000329.2(RPE65):c.11+5G>A rs61751276
NM_000329.2(RPE65):c.881A>C (p.Lys294Thr) rs61752901
NM_000334.4(SCN4A):c.1167T>C (p.Tyr389=) rs16947296
NM_000334.4(SCN4A):c.1453-4A>G rs111818485
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) rs62070884
NM_000334.4(SCN4A):c.2478C>T (p.Ile826=) rs371914255
NM_000334.4(SCN4A):c.2631T>C (p.Asp877=) rs79893125
NM_000334.4(SCN4A):c.2717G>C (p.Ser906Thr) rs41280102
NM_000334.4(SCN4A):c.2722G>A (p.Glu908Lys) rs117664682
NM_000334.4(SCN4A):c.2748C>G (p.Asn916Lys) rs115379510
NM_000334.4(SCN4A):c.3205G>A (p.Asp1069Asn) rs373150395
NM_000334.4(SCN4A):c.3386G>A (p.Arg1129Gln) rs527236149
NM_000334.4(SCN4A):c.3774+8G>A rs374806849
NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile) rs202106192
NM_000334.4(SCN4A):c.483-5C>G rs191547933
NM_000334.4(SCN4A):c.5367G>A (p.Ser1789=) rs189230866
NM_000334.4(SCN4A):c.963C>T (p.Asn321=) rs748863960
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met) rs80338952
NM_000335.4(SCN5A):c.1714_1715delGCinsTT (p.Ala572Phe) rs730880211
NM_000335.4(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603
NM_000335.4(SCN5A):c.3919C>T (p.Leu1307Phe) rs41313031
NM_000335.4(SCN5A):c.5841C>T (p.Ile1947=) rs13324293
NM_000335.4(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000335.4(SCN5A):c.5870G>A (p.Arg1957Gln) rs199473331
NM_000335.4(SCN5A):c.694G>A (p.Val232Ile) rs45471994
NM_000336.2(SCNN1B):c.1782G>A (p.Thr594=) rs13306628
NM_000336.2(SCNN1B):c.245C>G (p.Ser82Cys) rs35731153
NM_000336.2(SCNN1B):c.880G>A (p.Gly294Ser) rs72654338
NM_000337.5(SGCD):c.*2A>C rs200757725
NM_000337.5(SGCD):c.105G>C (p.Leu35=) rs193922392
NM_000337.5(SGCD):c.123C>G (p.Leu41=) rs200670993
NM_000337.5(SGCD):c.144G>C (p.Val48=) rs372152495
NM_000337.5(SGCD):c.15G>C (p.Glu5Asp) rs549319429
NM_000337.5(SGCD):c.213G>A (p.Arg71=) rs74846539
NM_000337.5(SGCD):c.290G>A (p.Arg97Gln) rs45559835
NM_000337.5(SGCD):c.294+8T>C rs11748588
NM_000337.5(SGCD):c.357T>C (p.Thr119=) rs886044132
NM_000337.5(SGCD):c.394G>A (p.Val132Ile) rs367819390
NM_000337.5(SGCD):c.402T>C (p.Ala134=) rs190935424
NM_000337.5(SGCD):c.451T>G (p.Ser151Ala) rs121909298
NM_000337.5(SGCD):c.45T>A (p.Pro15=) rs727505092
NM_000337.5(SGCD):c.510G>A (p.Glu170=) rs368838376
NM_000337.5(SGCD):c.543T>G (p.Pro181=) rs200451694
NM_000337.5(SGCD):c.699+18C>G rs180898690
NM_000337.5(SGCD):c.69C>T (p.Tyr23=) rs397517923
NM_000337.5(SGCD):c.756G>A (p.Thr252=) rs756467431
NM_000337.5(SGCD):c.768G>A (p.Thr256=) rs376141942
NM_000340.1(SLC2A2):c.1087G>T (p.Ala363Ser) rs76362149
NM_000346.3(SOX9):c.507C>G (p.His169Gln) rs2229989
NM_000346.3(SOX9):c.519G>A (p.Lys173=) rs202115157
NM_000346.3(SOX9):c.531G>A (p.Arg177=) rs144824678
NM_000346.3(SOX9):c.685+8G>A rs117696751
NM_000348.3(SRD5A2):c.680G>A (p.Arg227Gln) rs9332964
NM_000350.2(ABCA4):c.1015T>G (p.Trp339Gly) rs61751420
NM_000350.2(ABCA4):c.1253T>C (p.Phe418Ser) rs794726979
NM_000350.2(ABCA4):c.1268A>G (p.His423Arg) rs3112831
NM_000350.2(ABCA4):c.1269C>T (p.His423=) rs4147831
NM_000350.2(ABCA4):c.1356+5_1356+6insC rs1553193877
NM_000350.2(ABCA4):c.1532G>A (p.Arg511His) rs140482171
NM_000350.2(ABCA4):c.161G>A (p.Cys54Tyr) rs150774447
NM_000350.2(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392
NM_000350.2(ABCA4):c.1654G>A (p.Val552Ile) rs145525174
NM_000350.2(ABCA4):c.1699G>A (p.Val567Met) rs74516571
NM_000350.2(ABCA4):c.1715G>A (p.Arg572Gln) rs61748559
NM_000350.2(ABCA4):c.1804C>T (p.Arg602Trp) rs61749409
NM_000350.2(ABCA4):c.1927G>A (p.Val643Met) rs61749417
NM_000350.2(ABCA4):c.1928T>G (p.Val643Gly) rs61754024
NM_000350.2(ABCA4):c.2023G>A (p.Val675Ile) rs575453437
NM_000350.2(ABCA4):c.2560G>A (p.Ala854Thr) rs61749437
NM_000350.2(ABCA4):c.2588G>C rs76157638
NM_000350.2(ABCA4):c.2690C>T (p.Thr897Ile) rs61749440
NM_000350.2(ABCA4):c.2791G>A (p.Val931Met) rs58331765
NM_000350.2(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581
NM_000350.2(ABCA4):c.2966T>C (p.Val989Ala) rs61749454
NM_000350.2(ABCA4):c.2971G>C (p.Gly991Arg) rs61749455
NM_000350.2(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374
NM_000350.2(ABCA4):c.3322C>T (p.Arg1108Cys) rs61750120
NM_000350.2(ABCA4):c.3602T>G (p.Leu1201Arg) rs61750126
NM_000350.2(ABCA4):c.3626T>C (p.Met1209Thr) rs76258939
NM_000350.2(ABCA4):c.3759G>A (p.Thr1253=) rs147884766
NM_000350.2(ABCA4):c.3899G>A (p.Arg1300Gln) rs61750129
NM_000350.2(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130
NM_000350.2(ABCA4):c.4203C>T (p.Pro1401=) rs1801666
NM_000350.2(ABCA4):c.4222T>C (p.Trp1408Arg) rs61750135
NM_000350.2(ABCA4):c.4283C>T (p.Thr1428Met) rs1800549
NM_000350.2(ABCA4):c.4297G>A (p.Val1433Ile) rs56357060
NM_000350.2(ABCA4):c.4363T>C (p.Cys1455Arg) rs758835368
NM_000350.2(ABCA4):c.4469G>A (p.Cys1490Tyr) rs61751402
NM_000350.2(ABCA4):c.4538A>G (p.Gln1513Arg) rs281865402
NM_000350.2(ABCA4):c.455G>A (p.Arg152Gln) rs62646862
NM_000350.2(ABCA4):c.4577C>T (p.Thr1526Met) rs61750152
NM_000350.2(ABCA4):c.4594G>A (p.Asp1532Asn) rs62642574
NM_000350.2(ABCA4):c.466A>G (p.Ile156Val) rs62646863
NM_000350.2(ABCA4):c.4771G>A (p.Gly1591Arg) rs113106943
NM_000350.2(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404
NM_000350.2(ABCA4):c.4919G>A (p.Arg1640Gln) rs61751403
NM_000350.2(ABCA4):c.5056G>A (p.Val1686Met) rs61753019
NM_000350.2(ABCA4):c.52C>T (p.Arg18Trp) rs121909205
NM_000350.2(ABCA4):c.5461-10T>C rs1800728
NM_000350.2(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466
NM_000350.2(ABCA4):c.5682G>C (p.Leu1894=) rs1801574
NM_000350.2(ABCA4):c.5693G>A (p.Arg1898His) rs1800552
NM_000350.2(ABCA4):c.5714+5G>A rs61751407
NM_000350.2(ABCA4):c.5836-11G>A rs1800739
NM_000350.2(ABCA4):c.5843C>T (p.Pro1948Leu) rs56142141
NM_000350.2(ABCA4):c.5844A>G (p.Pro1948=) rs2275029
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000350.2(ABCA4):c.5908C>T (p.Leu1970Phe) rs28938473
NM_000350.2(ABCA4):c.6089G>A (p.Arg2030Gln) rs61750641
NM_000350.2(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677
NM_000350.2(ABCA4):c.618C>G (p.Ser206Arg) rs61748536
NM_000350.2(ABCA4):c.6229C>T (p.Arg2077Trp) rs61750645
NM_000350.2(ABCA4):c.6249C>T (p.Ile2083=) rs1801359
NM_000350.2(ABCA4):c.6282+7G>A rs17110761
NM_000350.2(ABCA4):c.6286G>A (p.Glu2096Lys) rs61750646
NM_000350.2(ABCA4):c.6320G>A (p.Arg2107His) rs62642564
NM_000350.2(ABCA4):c.6342G>A (p.Val2114=) rs61748520
NM_000350.2(ABCA4):c.634C>T (p.Arg212Cys) rs61750200
NM_000350.2(ABCA4):c.635G>A (p.Arg212His) rs6657239
NM_000350.2(ABCA4):c.6445C>T (p.Arg2149Ter) rs61750654
NM_000350.2(ABCA4):c.6449G>A (p.Cys2150Tyr) rs61751384
NM_000350.2(ABCA4):c.6529G>A (p.Asp2177Asn) rs1800555
NM_000350.2(ABCA4):c.6729+5_6729+19delGTTGGCCCTGGGGCA rs749526785
NM_000350.2(ABCA4):c.6732G>A (p.Val2244=) rs77293072
NM_000350.2(ABCA4):c.6764G>T (p.Ser2255Ile) rs6666652
NM_000350.2(ABCA4):c.768G>T (p.Val256=) rs62645944
NM_000352.4(ABCC8):c.1947G>A (p.Lys649=) rs1799858
NM_000352.4(ABCC8):c.207T>C (p.Pro69=) rs1048099
NM_000352.4(ABCC8):c.2117-3C>T rs1799854
NM_000352.4(ABCC8):c.2610C>T (p.Ala870=) rs111967655
NM_000352.4(ABCC8):c.3329+6C>T rs113873225
NM_000352.4(ABCC8):c.3819G>A (p.Arg1273=) rs1799859
NM_000352.4(ABCC8):c.4105G>T (p.Ala1369Ser) rs757110
NM_000352.4(ABCC8):c.824G>A (p.Arg275Gln) rs185040406
NM_000355.3(TCN2):c.497_498del (p.Leu166Profs) rs778381859
NM_000359.2(TGM1):c.876+2T>C rs151054393
NM_000362.4(TIMP3):c.516C>T (p.Phe172=) rs149161075
NM_000362.4(TIMP3):c.587G>A (p.Arg196Gln) rs142288050
NM_000363.4(TNNI3):c.12-7delC rs370714315
NM_000363.4(TNNI3):c.244C>T (p.Pro82Ser) rs77615401
NM_000363.4(TNNI3):c.550-10C>T rs201240150
NM_000367.4(TPMT):c.460G>A (p.Ala154Thr) rs1800460
NM_000367.4(TPMT):c.719A>G (p.Tyr240Cys) rs1142345
NM_000368.4(TSC1):c.-7C>T rs62621221
NM_000368.4(TSC1):c.1038T>C (p.Leu346=) rs753360364
NM_000368.4(TSC1):c.1079C>A (p.Thr360Asn) rs118203493
NM_000368.4(TSC1):c.1084C>T (p.Pro362Ser) rs397514864
NM_000368.4(TSC1):c.1163T>C (p.Leu388Pro) rs377598226
NM_000368.4(TSC1):c.1218C>T (p.Tyr406=) rs373465241
NM_000368.4(TSC1):c.1276G>T (p.Asp426Tyr) rs765695557
NM_000368.4(TSC1):c.1335A>G (p.Glu445=) rs7862221
NM_000368.4(TSC1):c.1460C>G (p.Ser487Cys) rs118203532
NM_000368.4(TSC1):c.1700C>T (p.Ala567Val) rs397514880
NM_000368.4(TSC1):c.1701G>A (p.Ala567=) rs35478675
NM_000368.4(TSC1):c.1726T>C (p.Leu576=) rs118203567
NM_000368.4(TSC1):c.1760A>G (p.Lys587Arg) rs118203576
NM_000368.4(TSC1):c.1775C>T (p.Thr592Met) rs775869914
NM_000368.4(TSC1):c.1921C>T (p.Pro641Ser) rs374222196
NM_000368.4(TSC1):c.1960C>G (p.Gln654Glu) rs75820036
NM_000368.4(TSC1):c.1977G>A (p.Ala659=) rs35958226
NM_000368.4(TSC1):c.201A>G (p.Pro67=) rs371555137
NM_000368.4(TSC1):c.2077G>C (p.Asp693His) rs397514800
NM_000368.4(TSC1):c.2115G>A (p.Glu705=) rs142662480
NM_000368.4(TSC1):c.2194C>T (p.His732Tyr) rs118203657
NM_000368.4(TSC1):c.250G>A (p.Ala84Thr) rs118203357
NM_000368.4(TSC1):c.2646C>T (p.Ala882=) rs118203720
NM_000368.4(TSC1):c.2654G>A (p.Arg885Gln) rs200514807
NM_000368.4(TSC1):c.273G>A (p.Ser91=) rs115097221
NM_000368.4(TSC1):c.2829C>T (p.Ala943=) rs4962081
NM_000368.4(TSC1):c.2865C>T (p.Thr955=) rs45468995
NM_000368.4(TSC1):c.2932C>G (p.Leu978Val) rs397514859
NM_000368.4(TSC1):c.3024T>G (p.Asn1008Lys) rs142954164
NM_000368.4(TSC1):c.3103G>A (p.Gly1035Ser) rs118203742
NM_000368.4(TSC1):c.3324C>T (p.Gly1108=) rs35593170
NM_000368.4(TSC1):c.3387C>T (p.Ala1129=) rs200200869
NM_000368.4(TSC1):c.3435G>A (p.Pro1145=) rs140352085
NM_000368.4(TSC1):c.346T>G (p.Leu116Val) rs199620268
NM_000368.4(TSC1):c.532G>A (p.Val178Ile) rs118203395
NM_000368.4(TSC1):c.615T>C (p.Ser205=) rs118203414
NM_000368.4(TSC1):c.618T>C (p.His206=) rs118203415
NM_000368.4(TSC1):c.737G>A (p.Arg246Lys) rs118203436
NM_000368.4(TSC1):c.965T>C (p.Met322Thr) rs1073123
NM_000369.2(TSHR):c.106G>C (p.Asp36His) rs61747482
NM_000370.3(TTPA):c.24C>G (p.Pro8=) rs140010311
NM_000371.3(TTR):c.336+19G>A rs75517067
NM_000371.3(TTR):c.384C>T (p.Ala128=) rs143906738
NM_000372.4(TYR):c.1037-7T>A rs61754381
NM_000372.4(TYR):c.1147G>A (p.Asp383Asn) rs121908011
NM_000372.4(TYR):c.1204C>T (p.Arg402Ter) rs62645917
NM_000372.4(TYR):c.1205G>A (p.Arg402Gln) rs1126809
NM_000372.4(TYR):c.1217C>T (p.Pro406Leu) rs104894313
NM_000372.4(TYR):c.1234C>G (p.Pro412Ala) rs797046081
NM_000372.4(TYR):c.1336G>A (p.Gly446Ser) rs104894317
NM_000372.4(TYR):c.230G>A (p.Arg77Gln) rs61753185
NM_000372.4(TYR):c.242C>T (p.Pro81Leu) rs28940876
NM_000372.4(TYR):c.575C>A (p.Ser192Tyr) rs1042602
NM_000372.4(TYR):c.823G>T (p.Val275Phe) rs104894314
NM_000372.4(TYR):c.832C>T (p.Arg278Ter) rs62645904
NM_000372.4(TYR):c.896G>A (p.Arg299His) rs61754375
NM_000375.2(UROS):c.217T>C (p.Cys73Arg) rs121908012
NM_000377.2(WAS):c.538C>A (p.His180Asn) rs145040665
NM_000377.2(WAS):c.995T>C (p.Val332Ala) rs2737799
NM_000381.3(MID1):c.1230C>T (p.Ser410=) rs16986145
NM_000381.3(MID1):c.1489C>T (p.Leu497=) rs138629923
NM_000381.3(MID1):c.1698A>G (p.Glu566=) rs34554583
NM_000381.3(MID1):c.2000C>T (p.Pro667Leu) rs147106995
NM_000381.3(MID1):c.588C>G (p.Ala196=) rs41303167
NM_000381.3(MID1):c.661-8_661-7del rs375668839
NM_000382.2(ALDH3A2):c.1270C>T (p.Pro424Ser) rs61737992
NM_000382.2(ALDH3A2):c.529C>T (p.Arg177Ter) rs72547561
NM_000383.3(AIRE):c.1095+6G>A rs1800525
NM_000383.3(AIRE):c.1567-5C>T rs192215705
NM_000383.3(AIRE):c.652+14C>T rs41277546
NM_000383.3(AIRE):c.834C>G (p.Ser278Arg)