ClinVar Miner

Variants from Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard with conflicting interpretations

Location: United States  Primary collection method: curation
Minimum review status of the submission from Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard: Collection method of the submission from Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

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

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
1616 596 5 507 92 13 280 825

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
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard pathogenic likely pathogenic uncertain significance likely benign benign association not found likely risk allele pathogenic, low penetrance protective risk factor uncertain risk allele other
pathogenic 3 168 15 2 1 1 0 1 1 0 0 1
likely pathogenic 281 2 31 1 1 0 1 0 0 0 0 0
uncertain significance 132 150 0 28 6 0 2 0 0 1 1 0
likely benign 5 2 44 0 27 0 0 0 0 2 0 0
benign 8 1 18 33 0 0 1 0 0 0 0 2

Submitter to submitter summary #

Total submitters: 204
Download table as spreadsheet
Submitter Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
Invitae 0 382 0 161 12 3 93 268
OMIM 0 125 0 58 6 3 35 101
Baylor Genetics 0 158 0 58 1 0 39 98
Counsyl 0 92 0 76 1 0 14 91
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 161 0 52 2 0 23 77
Illumina Laboratory Services, Illumina 0 97 0 37 32 0 8 76
Natera, Inc. 0 222 0 44 11 0 8 63
Genome-Nilou Lab 0 115 0 19 16 0 10 45
LDLR-LOVD, British Heart Foundation 0 13 0 9 5 0 28 42
Fulgent Genetics, Fulgent Genetics 0 107 0 31 1 0 5 37
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel 0 67 0 20 3 0 7 30
Revvity Omics, Revvity 0 60 0 16 1 0 11 28
Mendelics 0 43 0 14 3 0 11 28
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 8 0 6 2 0 18 26
Color Diagnostics, LLC DBA Color Health 0 41 0 4 5 0 16 25
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 10 0 7 3 0 12 22
Institute of Human Genetics, University of Leipzig Medical Center 0 28 0 10 0 0 10 20
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 11 0 6 0 0 11 17
Robarts Research Institute, Western University 0 8 0 6 1 0 9 16
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 43 0 9 2 0 4 15
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 15 0 9 1 0 5 15
GeneDx 0 12 0 7 4 0 3 13
NIHR Bioresource Rare Diseases, University of Cambridge 0 22 0 8 0 0 5 13
3billion 0 59 0 9 0 0 4 13
Genetic Services Laboratory, University of Chicago 0 28 0 3 3 0 6 12
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 3 0 6 0 0 6 12
Undiagnosed Diseases Network, NIH 0 12 0 5 0 0 8 12
All of Us Research Program, National Institutes of Health 0 29 0 1 1 0 10 12
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 14 0 7 0 0 3 10
GeneReviews 0 123 3 5 0 0 2 10
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 31 0 6 0 0 4 10
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 1 8 0 1 10
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel 0 17 0 2 1 0 7 10
Neuberg Centre For Genomic Medicine, NCGM 0 18 0 6 0 0 4 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 40 0 7 1 0 1 9
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 10 0 4 0 0 5 9
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge 0 3 0 3 0 0 6 9
Iberoamerican FH Network 0 6 0 1 0 0 8 9
MGZ Medical Genetics Center 0 37 0 5 0 0 3 8
CeGaT Center for Human Genetics Tuebingen 0 3 0 5 1 0 2 8
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 13 0 7 0 0 1 8
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 4 0 5 0 0 3 8
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation 0 4 0 3 0 0 5 8
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 16 0 3 0 0 5 8
Fundacion Hipercolesterolemia Familiar 0 12 0 3 0 0 5 8
Sharon lab, Hadassah-Hebrew University Medical Center 0 13 0 7 0 0 1 8
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II 0 0 0 3 0 0 5 8
ClinGen Monogenic Diabetes Variant Curation Expert Panel 0 2 0 4 0 0 4 8
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 27 0 5 2 0 0 7
Ocular Genomics Institute, Massachusetts Eye and Ear 0 8 0 2 0 0 5 7
Genomics England Pilot Project, Genomics England 0 5 0 7 0 0 0 7
Geisinger Clinic, Geisinger Health System 0 5 0 2 0 0 5 7
Centogene AG - the Rare Disease Company 0 15 0 4 0 0 2 6
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 1 2 2 0 0 2 6
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 6 0 3 0 0 3 6
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 8 0 4 0 0 2 6
SIB Swiss Institute of Bioinformatics 0 4 0 4 1 0 1 6
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 0 7 0 6 0 0 0 6
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 2 0 0 1 5 0 6
Athena Diagnostics Inc 0 5 0 5 0 0 1 5
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 2 0 1 0 0 4 5
PreventionGenetics, part of Exact Sciences 0 8 0 3 1 0 1 5
Eurofins Ntd Llc (ga) 0 5 0 1 4 1 1 5
Quest Diagnostics Nichols Institute San Juan Capistrano 0 2 0 2 1 0 2 5
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 4 0 5 0 0 1 5
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 6 0 2 0 0 3 5
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 7 0 3 0 0 1 4
UW Hindbrain Malformation Research Program, University of Washington 0 3 0 1 0 0 3 4
Yale Center for Mendelian Genomics, Yale University 0 1 0 2 0 0 2 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 4 0 2 0 0 2 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 6 0 2 0 0 2 4
Myriad Genetics, Inc. 0 30 0 2 0 0 2 4
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 1 0 0 3 4
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia 0 5 0 2 0 0 2 4
New York Genome Center 0 7 0 2 0 0 3 4
Molecular Biology Laboratory, Fundació Puigvert 0 3 0 4 0 0 0 4
Molecular Genetics, Royal Melbourne Hospital 0 7 0 2 0 0 2 4
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 3 0 0 1 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 6 0 2 0 0 1 3
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 3 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 8 0 3 0 0 0 3
Albrecht-Kossel-Institute, Medical University Rostock 0 6 0 0 1 0 2 3
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 5 0 3 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 7 0 2 0 0 2 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 5 0 1 0 0 2 3
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 1 0 1 1 0 1 3
Department of Human Genetics, Laborarztpraxis Dres. Walther, Weindel und Kollegen 0 0 0 1 0 0 2 3
Laboratory of Genetics in Ophthalmology, Institut Imagine 0 2 0 3 0 0 0 3
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine 0 0 0 0 0 0 3 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 20 0 1 0 0 2 3
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 3 0 0 1 0 1 2
Molecular Genetics Laboratory, Institute for Ophthalmic Research 0 0 0 1 0 0 1 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 3 0 0 1 0 1 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 6 0 2 0 0 0 2
Institute of Medical Molecular Genetics, University of Zurich 0 0 0 1 0 0 1 2
MyeliNeuroGene Lab, McGill University Health Center Research Institute 0 3 0 2 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 2 0 0 1 2
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 0 0 2 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 4 0 0 0 0 2 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 4 0 0 0 0 2 2
Translational Genomics Laboratory, University of Maryland School of Medicine 0 2 0 0 0 0 2 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 0 1 1 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 10 0 1 0 0 1 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 2 0 1 0 0 1 2
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova 0 1 0 2 0 0 0 2
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University 0 1 0 1 0 0 1 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 3034 1 0 1 0 0 1 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 1 0 0 1 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 6 0 1 0 0 1 2
Johns Hopkins Genomics, Johns Hopkins University 0 7 0 2 0 0 0 2
Biochemistry Laboratory of CDMU, Chengde Medical University 0 0 0 1 0 0 1 2
deCODE genetics, Amgen 0 0 0 1 0 0 1 2
Reproductive Health Research and Development, BGI Genomics 0 6 0 0 1 0 1 2
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University 0 1 0 0 0 1 1 2
Molecular Genetics, Madras Diabetes Research Foundation 0 1 0 1 0 0 1 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 10 0 1 0 0 0 1
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 1 0 1 0 0 0 1
Claritas Genomics 0 0 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 0 0 0 0 1 1
Ambry Genetics 0 9 0 0 0 0 1 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 2 0 0 0 0 1 1
Institute of Human Genetics, Cologne University 0 2 0 1 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 0 1 0 0 0 1
Clinical Genetics, Academic Medical Center 0 1 0 1 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 5 0 0 0 0 1 1
Institute of Human Genetics, University of Ulm 0 0 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 1 0 0 1
SNPedia 0 0 0 0 0 0 1 1
Blueprint Genetics 0 0 0 1 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 7 0 1 0 0 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 1 0 0 0 1
Sydney Children's Hospital, SCHN 0 0 0 1 0 0 0 1
CSER _CC_NCGL, University of Washington 0 2 0 0 0 0 1 1
Department of Molecular and Human Genetics, Baylor College of Medicine 0 0 0 1 0 0 0 1
Freeman-Sheldon Research Group, deGruyter-McKusick Institute of Health Sciences 0 0 0 1 0 0 0 1
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics 0 0 0 0 0 1 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 0 0 1 0 0 1
Hadassah Hebrew University Medical Center 0 2 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 2 0 1 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 0 0 1 0 0 0 1
Genome Sciences Centre, British Columbia Cancer Agency 0 0 0 1 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 0 0 1 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 0 0 1 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 3 0 1 0 0 0 1
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 0 0 0 1 0 0 0 1
Medical Molecular Genetics Department, National Research Center 0 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 4 0 1 0 0 0 1
Biochimie-Hormonologie, Robert Debre Hospital 0 1 0 0 0 0 1 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 0 0 0 1 0 0 0 1
The Morris Kahn Laboratory of Human Genetics, Ben-Gurion University of the Negev 0 0 0 1 0 0 0 1
Phosphorus, Inc. 0 1 0 0 1 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 1 0 1 0 0 1 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 0 0 0 1 0 0 1 1
Institute of Cellular and Molecular Medicine, Copenhagen University 0 0 0 1 0 0 0 1
Genetics Department, University Hospital of Toulouse 0 0 0 1 0 0 0 1
Cirak Lab, University Hospital Cologne 0 1 0 1 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 0 0 0 0 0 1 1
Translational Research Program on Neuronal Ceroid Lipofuscinosis, Center for the Study of Inborn Errors of Metabolism 0 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 6 0 1 0 0 0 1
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital 0 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 4 0 0 1 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 0 0 1 0 0 1
Laboratoire de Genetique Moleculaire, Centre Hospitalier Universitaire de Bordeaux 0 0 0 0 0 0 1 1
Medical Genetics Lab, Policlinico S. Orsola.Malpighi 0 0 0 1 0 0 1 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 4 0 1 0 0 0 1
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano 0 0 0 0 0 0 1 1
Tehran Medical Genetics Laboratory 0 0 0 1 0 0 0 1
Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan 0 0 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 5 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 1 0 0 0 1
Core Molecular Diagnostic Lab, McGill University Health Centre 0 0 0 1 0 0 0 1
Department of Pediatrics, Driscoll Children's Hospital 0 0 0 1 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 1 0 0 0 0 1 1
Molecular Pathology Diagnostics Labratory, University of Iowa Hospitals & Clinics 0 0 0 1 0 0 0 1
Genetic Diseases Diagnostic Center, Koc University Hospital 0 0 0 1 0 0 0 1
Leeds Institute of Medical Research, University of Leeds 0 0 0 0 0 0 1 1
University of Iowa Renal Genetics Clinic, University of Iowa 0 0 0 0 1 0 0 1
Biochemical Genetics Department, Cyprus Institute of Neurology and Genetics 0 1 0 0 0 0 1 1
James R Lupski Laboratory, Baylor College Of Medicine 0 1 0 1 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 0 0 0 1
Stankiewicz Research Laboratory, Baylor College of Medicine 0 0 0 0 0 0 1 1
Human Genetics Section, Sidra Medicine 0 0 0 0 0 0 1 1
Molecular Therapies Laboratory, Murdoch University 0 2 0 1 0 0 0 1
Department of Medical Genomics, Royal Prince Alfred Hospital 0 0 0 0 0 0 1 1
Center of Excellence for Medical Genomics, Chulalongkorn University 0 0 0 1 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 3 0 1 0 0 0 1
Rare Disease Group, University of Exeter 0 0 0 1 0 0 0 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 0 0 1 0 0 0 1
Lifecell International Pvt. Ltd 0 8 0 1 0 0 0 1
GenomeConnect - Simons Searchlight 0 0 0 1 0 0 0 1
CMT Laboratory, Bogazici University 0 1 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 3 0 1 0 0 0 1
Suma Genomics 0 3 0 1 0 0 0 1
Bioinformatics Unit, Institut Pasteur de Montevideo 0 0 0 1 0 0 0 1
DASA 0 12 0 0 0 0 1 1
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 0 0 0 0 0 0 1 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 0 0 1 0 1 1
IU Genetic Testing Laboratories, Indiana University School of Medicine 0 0 0 1 0 0 0 1
Dunham Lab, University of Washington 0 1 0 0 1 0 0 1
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology 0 0 0 1 0 0 0 1
Chao Lab, Baylor College of Medicine, Texas Children's Hospital 0 0 0 1 0 0 0 1
Department Of Endocrinology, Sanjay Gandhi Postgraduate Institute Of Medical Sciences 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 825
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000153.4(GALC):c.1685T>C (p.Ile562Thr) rs398607 0.49946
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000239.3(LYZ):c.263C>A (p.Thr88Asn) rs1800973 0.04360
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309 0.04051
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) rs11934801 0.01974
NM_002617.4(PEX10):c.820A>G (p.Thr274Ala) rs34154371 0.01899
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_015102.5(NPHP4):c.2542C>T (p.Arg848Trp) rs17472401 0.01606
NM_014384.3(ACAD8):c.512C>G (p.Ser171Cys) rs113488591 0.01568
NM_194248.3(OTOF):c.2464C>T (p.Arg822Trp) rs80356570 0.01518
NM_000520.6(HEXA):c.672+30T>G rs117160567 0.01494
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
NM_001365536.1(SCN9A):c.2827A>C (p.Met943Leu) rs12478318 0.01339
NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu) rs4369876 0.01322
NM_012193.4(FZD4):c.97C>T (p.Pro33Ser) rs61735304 0.01236
NM_000250.2(MPO):c.995C>T (p.Ala332Val) rs28730837 0.01176
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031 0.01150
NM_000359.3(TGM1):c.1552G>A (p.Val518Met) rs35312232 0.01146
NM_000203.5(IDUA):c.1174C>T (p.Leu392=) rs201682298 0.01139
NM_001126108.2(SLC12A3):c.2182G>A (p.Ala728Thr) rs36049418 0.01075
NM_000293.3(PHKB):c.555G>T (p.Met185Ile) rs56257827 0.01025
NM_032737.4(LMNB2):c.704G>A (p.Arg235Gln) rs121912497 0.01005
NM_006269.2(RP1):c.1118C>T (p.Thr373Ile) rs77775126 0.00985
NM_000222.3(KIT):c.67+4G>A rs72550820 0.00969
NM_000171.4(GLRA1):c.1108G>A (p.Gly370Ser) rs116474260 0.00939
NM_000709.4(BCKDHA):c.452C>T (p.Thr151Met) rs34442879 0.00790
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser) rs34677591 0.00706
NM_000150.4(FUT6):c.945C>A (p.Tyr315Ter) rs145035679 0.00631
NM_000157.4(GBA1):c.1223C>T (p.Thr408Met) rs75548401 0.00627
NM_001374353.1(GLI2):c.4281G>A (p.Met1427Ile) rs146467786 0.00465
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_000152.5(GAA):c.447G>A (p.Thr149=) rs2289536 0.00362
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly) rs139548132 0.00360
NM_000384.3(APOB):c.3383G>A (p.Arg1128His) rs12713843 0.00356
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_000152.5(GAA):c.917C>T (p.Ser306Leu) rs138097673 0.00292
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885 0.00290
NM_000152.5(GAA):c.1552-13G>A rs111261964 0.00276
NM_001692.4(ATP6V1B1):c.1394G>A (p.Arg465His) rs142905621 0.00275
NM_000037.4(ANK1):c.5097-34C>T rs185434561 0.00261
NM_000152.5(GAA):c.2481+16G>A rs41292408 0.00252
NM_006005.3(WFS1):c.577A>C (p.Lys193Gln) rs41264699 0.00249
NM_000170.3(GLDC):c.1229G>A (p.Arg410Lys) rs144090917 0.00234
NM_013247.5(HTRA2):c.1195G>A (p.Gly399Ser) rs72470545 0.00231
NM_020344.4(SLC24A2):c.1802A>G (p.Asn601Ser) rs61745273 0.00211
NM_000152.5(GAA):c.676C>G (p.Leu226Val) rs113085339 0.00193
NM_000152.5(GAA):c.2332-12A>T rs200965268 0.00178
NM_000152.5(GAA):c.-312C>T rs574326920 0.00161
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_032830.3(UTP4):c.1693C>T (p.Arg565Trp) rs119465999 0.00150
NM_001849.4(COL6A2):c.2558G>A (p.Arg853Gln) rs144830948 0.00148
NM_006348.5(COG5):c.1776T>C (p.Ala592=) rs142970891 0.00142
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_016729.3(FOLR1):c.493+2T>C rs144637717 0.00134
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys) rs150343959 0.00133
NM_001080483.3(MYMK):c.271C>A (p.Pro91Thr) rs137868995 0.00125
NM_032578.4(MYPN):c.3481C>A (p.Leu1161Ile) rs138313730 0.00123
NM_198578.4(LRRK2):c.3333G>T (p.Gln1111His) rs78365431 0.00121
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411 0.00116
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_000152.5(GAA):c.915G>A (p.Gly305=) rs150343359 0.00113
NM_000152.5(GAA):c.2415G>A (p.Val805=) rs150536507 0.00112
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr) rs61752878 0.00103
NM_020708.5(SLC12A5):c.2855G>A (p.Arg952His) rs142740233 0.00102
NM_000152.5(GAA):c.726G>A (p.Ala242=) rs148578399 0.00101
NM_000455.5(STK11):c.894C>A (p.Phe298Leu) rs199681533 0.00100
NM_000169.3(GLA):c.8T>C (p.Leu3Pro) rs150547672 0.00098
NM_006348.5(COG5):c.298C>T (p.Leu100Phe) rs150351852 0.00096
NM_000748.3(CHRNB2):c.1432T>C (p.Phe478Leu) rs79137415 0.00084
NM_006420.3(ARFGEF2):c.625G>A (p.Glu209Lys) rs28937880 0.00079
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met) rs112084407 0.00078
NM_000543.5(SMPD1):c.297C>G (p.Thr99=) rs146630228 0.00072
NM_014669.5(NUP93):c.1162C>T (p.Arg388Trp) rs145146218 0.00070
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr) rs199504211 0.00069
NM_025184.4(EFHC2):c.404G>A (p.Arg135Gln) rs201560745 0.00058
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln) rs74315342 0.00054
NM_000527.5(LDLR):c.1167G>A (p.Thr389=) rs139066906 0.00052
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_004773.4(ZNHIT3):c.92C>T (p.Ser31Leu) rs148890852 0.00044
NM_000169.3(GLA):c.376A>G (p.Ser126Gly) rs149391489 0.00043
NM_024312.5(GNPTAB):c.3598G>A (p.Glu1200Lys) rs137853825 0.00043
NM_000048.4(ASL):c.392C>T (p.Thr131Met) rs143793815 0.00042
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_145064.3(STAC3):c.851G>C (p.Trp284Ser) rs140291094 0.00039
NM_198239.2(CCN6):c.248G>A (p.Gly83Glu) rs147337485 0.00039
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) rs121909398 0.00039
NM_000152.5(GAA):c.2109C>T (p.Tyr703=) rs150728610 0.00038
NM_000152.5(GAA):c.257C>G (p.Pro86Arg) rs2229222 0.00038
NM_000152.5(GAA):c.752C>T (p.Ser251Leu) rs200856561 0.00038
NM_003906.5(MCM3AP):c.3814G>A (p.Val1272Met) rs779248881 0.00037
NM_000152.5(GAA):c.2652G>A (p.Thr884=) rs143642048 0.00036
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys) rs148812376 0.00032
NM_000152.5(GAA):c.2478G>A (p.Leu826=) rs201183207 0.00031
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys) rs80338671 0.00029
NM_000138.5(FBN1):c.5423-4G>A rs377036485 0.00026
NM_000152.5(GAA):c.1286A>G (p.Gln429Arg) rs200294882 0.00026
NM_000152.5(GAA):c.2332-10C>G rs373606162 0.00026
NM_000152.5(GAA):c.2736G>A (p.Ala912=) rs142472738 0.00026
NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro) rs139632595 0.00026
NM_175914.5(HNF4A):c.439G>A (p.Val147Ile) rs142204928 0.00025
NM_000237.3(LPL):c.644G>A (p.Gly215Glu) rs118204057 0.00024
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00024
NM_001142800.2(EYS):c.3443+1G>T rs373441420 0.00022
NM_000152.5(GAA):c.2152G>A (p.Val718Ile) rs141017311 0.00021
NM_000441.2(SLC26A4):c.1544+9C>T rs368970459 0.00021
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936 0.00019
NM_000078.3(CETP):c.663C>A (p.Ser221Arg) rs201438792 0.00019
NM_000152.5(GAA):c.693-4G>T rs200088236 0.00019
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855 0.00019
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe) rs150518260 0.00019
NM_003560.4(PLA2G6):c.386T>C (p.Leu129Pro) rs374746113 0.00019
NM_005530.3(IDH3A):c.938T>C (p.Met313Thr) rs149862950 0.00018
NM_000157.4(GBA1):c.882T>G (p.His294Gln) rs367968666 0.00016
NM_004130.4(GYG1):c.143+3G>C rs370652040 0.00016
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys) rs111033258 0.00016
NM_000527.5(LDLR):c.165C>G (p.Gly55=) rs150644181 0.00015
NM_005912.3(MC4R):c.757G>A (p.Val253Ile) rs187152753 0.00014
NM_000169.3(GLA):c.1088G>A (p.Arg363His) rs111422676 0.00013
NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033 0.00013
NM_018116.4(MSTO1):c.706G>C (p.Asp236His) rs753488873 0.00013
NM_019109.5(ALG1):c.1187+3A>G rs369160589 0.00013
NM_003322.6(TULP1):c.1496-6C>A rs281865171 0.00011
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn) rs79783591 0.00011
NM_018082.6(POLR3B):c.2084-6A>G rs747912710 0.00011
NM_018451.5(CENPJ):c.634G>T (p.Glu212Ter) rs765113367 0.00011
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594 0.00011
NM_000152.5(GAA):c.1920T>G (p.Pro640=) rs144090460 0.00010
NM_003560.4(PLA2G6):c.2129G>A (p.Arg710His) rs147455037 0.00010
NM_000097.7(CPOX):c.1210A>G (p.Lys404Glu) rs121917868 0.00009
NM_000152.5(GAA):c.711G>A (p.Ala237=) rs368328598 0.00009
NM_000169.3(GLA):c.865A>G (p.Ile289Val) rs140329381 0.00009
NM_001358921.2(COQ2):c.533A>G (p.Asn178Ser) rs121918232 0.00009
NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln) rs149712244 0.00009
NM_006767.4(LZTR1):c.1943-256C>T rs761685529 0.00009
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu) rs199826737 0.00009
NM_018136.5(ASPM):c.9539A>C (p.Gln3180Pro) rs193251130 0.00009
NM_024854.5(PYROXD1):c.285+1G>A rs369083786 0.00009
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr) rs267607119 0.00009
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569 0.00009
NM_000152.5(GAA):c.1265G>A (p.Arg422Gln) rs2229224 0.00008
NM_000152.5(GAA):c.1552-3C>G rs375470378 0.00008
NM_000152.5(GAA):c.533G>A (p.Arg178His) rs762267535 0.00008
NM_000152.5(GAA):c.853C>T (p.Pro285Ser) rs886042086 0.00008
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro) rs199801029 0.00008
NM_000251.3(MSH2):c.820A>G (p.Ile274Val) rs371944271 0.00008
NM_000458.4(HNF1B):c.660T>C (p.Asp220=) rs779375959 0.00008
NM_000527.5(LDLR):c.1085A>C (p.Asp362Ala) rs138315511 0.00008
NM_000527.5(LDLR):c.1503G>A (p.Ala501=) rs368889457 0.00008
NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp) rs139842473 0.00008
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu) rs13447331 0.00008
NM_018116.4(MSTO1):c.836G>A (p.Arg279His) rs563943670 0.00008
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) rs369925690 0.00008
NM_000152.5(GAA):c.1048G>A (p.Val350Met) rs200412003 0.00007
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp) rs104894178 0.00007
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met) rs200646556 0.00006
NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln) rs121434548 0.00006
NM_000152.5(GAA):c.1124G>A (p.Arg375His) rs142752477 0.00006
NM_000152.5(GAA):c.1195-15G>A rs373840229 0.00006
NM_000152.5(GAA):c.1356C>T (p.Ala452=) rs757893858 0.00006
NM_000152.5(GAA):c.266G>A (p.Arg89His) rs200586324 0.00006
NM_000152.5(GAA):c.2800-11C>G rs374571499 0.00006
NM_000152.5(GAA):c.318C>T (p.Arg106=) rs762542246 0.00006
NM_000152.5(GAA):c.655G>A (p.Gly219Arg) rs370950728 0.00006
NM_000152.5(GAA):c.953T>C (p.Met318Thr) rs121907936 0.00006
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter) rs137852888 0.00006
NM_000158.4(GBE1):c.555+1G>T rs759707498 0.00006
NM_000158.4(GBE1):c.785G>A (p.Arg262His) rs369574719 0.00006
NM_000195.5(HPS1):c.1096C>A (p.Pro366Thr) rs138771756 0.00006
NM_000203.5(IDUA):c.923T>C (p.Leu308Pro) rs752337969 0.00006
NM_000527.5(LDLR):c.1846-10G>T rs368243304 0.00006
NM_000527.5(LDLR):c.967G>A (p.Gly323Ser) rs373869746 0.00006
NM_000527.5(LDLR):c.979C>T (p.His327Tyr) rs747507019 0.00006
NM_000540.3(RYR1):c.2603G>A (p.Arg868His) rs750938678 0.00006
NM_001083116.3(PRF1):c.632C>T (p.Ala211Val) rs368524364 0.00006
NM_001374504.1(TMPRSS6):c.1534G>A (p.Asp512Asn) rs137853120 0.00006
NM_003560.4(PLA2G6):c.1495G>A (p.Ala499Thr) rs141045127 0.00006
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680 0.00006
NM_021729.6(VPS11):c.2536T>G (p.Cys846Gly) rs34757931 0.00006
NM_152564.5(VPS13B):c.6727G>T (p.Glu2243Ter) rs146960401 0.00006
NM_152906.7(TANGO2):c.94C>T (p.Arg32Ter) rs199801224 0.00006
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264 0.00006
NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp) rs539192853 0.00006
NM_000152.5(GAA):c.510C>T (p.Asp170=) rs564758226 0.00005
NM_000156.6(GAMT):c.59G>C (p.Trp20Ser) rs80338734 0.00005
NM_000169.3(GLA):c.640-801G>A rs199473684 0.00005
NM_000492.4(CFTR):c.3469-20T>C rs373002889 0.00005
NM_005912.3(MC4R):c.913C>T (p.Arg305Trp) rs549442687 0.00005
NM_005993.5(TBCD):c.3365C>T (p.Pro1122Leu) rs755177846 0.00005
NM_025137.4(SPG11):c.733_734del (p.Met245fs) rs312262720 0.00005
NM_152906.7(TANGO2):c.605+1G>A rs372949028 0.00005
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys) rs770610356 0.00004
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu) rs148842275 0.00004
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter) rs140826989 0.00004
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer) rs781088002 0.00004
NM_000152.5(GAA):c.2151C>T (p.His717=) rs758725073 0.00004
NM_000152.5(GAA):c.784G>A (p.Glu262Lys) rs201896815 0.00004
NM_000152.5(GAA):c.861C>T (p.Pro287=) rs778580823 0.00004
NM_000158.4(GBE1):c.1825G>A (p.Glu609Lys) rs772802187 0.00004
NM_000158.4(GBE1):c.70del (p.Asp24fs) rs1407149518 0.00004
NM_000158.4(GBE1):c.760A>G (p.Thr254Ala) rs770427750 0.00004
NM_000237.3(LPL):c.662T>C (p.Ile221Thr) rs118204061 0.00004
NM_000352.6(ABCC8):c.2041-21G>A rs746714109 0.00004
NM_000352.6(ABCC8):c.62T>A (p.Val21Asp) rs200670692 0.00004
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp) rs368861241 0.00004
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser) rs544453230 0.00004
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) rs139624145 0.00004
NM_000527.5(LDLR):c.232C>T (p.Arg78Cys) rs370860696 0.00004
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys) rs768563000 0.00004
NM_003560.4(PLA2G6):c.2221C>T (p.Arg741Trp) rs530348521 0.00004
NM_004562.3(PRKN):c.1000C>T (p.Arg334Cys) rs199657839 0.00004
NM_006208.3(ENPP1):c.2462G>A (p.Arg821His) rs367759638 0.00004
NM_017780.4(CHD7):c.7463G>A (p.Gly2488Asp) rs398124324 0.00004
NM_017951.5(SMPD4):c.1220C>T (p.Pro407Leu) rs747433356 0.00004
NM_018082.6(POLR3B):c.2303G>A (p.Arg768His) rs267608687 0.00004
NM_020989.4(CRYGC):c.502C>T (p.Arg168Trp) rs28931604 0.00004
NM_022081.6(HPS4):c.649C>T (p.Arg217Ter) rs119471023 0.00004
NM_022081.6(HPS4):c.949_972dup (p.Ala317_Glu324dup) rs281865164 0.00004
NM_025114.4(CEP290):c.4438-3del rs747323414 0.00004
NM_152443.3(RDH12):c.524C>T (p.Ser175Leu) rs116733939 0.00004
NM_177550.5(SLC13A5):c.680C>T (p.Thr227Met) rs587777577 0.00004
NM_177550.5(SLC13A5):c.997C>T (p.Arg333Ter) rs773770609 0.00004
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys) rs62635654 0.00004
NM_000113.3(TOR1A):c.862C>T (p.Arg288Ter) rs760768475 0.00003
NM_000152.5(GAA):c.1075+12T>G rs370842677 0.00003
NM_000152.5(GAA):c.1316T>A (p.Met439Lys) rs747610090 0.00003
NM_000152.5(GAA):c.1326+1G>A rs1205507761 0.00003
NM_000152.5(GAA):c.1941C>G (p.Cys647Trp) rs776948121 0.00003
NM_000152.5(GAA):c.2105G>A (p.Arg702His) rs398123172 0.00003
NM_000152.5(GAA):c.2173C>T (p.Arg725Trp) rs121907938 0.00003
NM_000152.5(GAA):c.2190-4G>A rs759974338 0.00003
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys) rs144016984 0.00003
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter) rs780321415 0.00003
NM_000152.5(GAA):c.307T>G (p.Cys103Gly) rs398123174 0.00003
NM_000152.5(GAA):c.503G>A (p.Arg168Gln) rs376685205 0.00003
NM_000152.5(GAA):c.546G>A (p.Thr182=) rs143523371 0.00003
NM_000152.5(GAA):c.955+14C>A rs756921041 0.00003
NM_000156.6(GAMT):c.481A>T (p.Lys161Ter) rs1057524499 0.00003
NM_000157.4(GBA1):c.667T>C (p.Trp223Arg) rs61748906 0.00003
NM_000157.4(GBA1):c.681T>G (p.Asn227Lys) rs381418 0.00003
NM_000158.4(GBE1):c.1571G>A (p.Arg524Gln) rs80338673 0.00003
NM_000158.4(GBE1):c.708G>C (p.Gln236His) rs137852892 0.00003
NM_000169.3(GLA):c.1067G>A (p.Arg356Gln) rs869312163 0.00003
NM_000169.3(GLA):c.639+6A>C rs200096940 0.00003
NM_000283.4(PDE6B):c.299G>A (p.Arg100His) rs555600300 0.00003
NM_000352.6(ABCC8):c.2921-9G>A rs757171524 0.00003
NM_000382.3(ALDH3A2):c.943C>T (p.Pro315Ser) rs72547571 0.00003
NM_000458.4(HNF1B):c.100C>T (p.Leu34=) rs373201245 0.00003
NM_000527.5(LDLR):c.1060+9C>T rs540073140 0.00003
NM_000527.5(LDLR):c.1247G>A (p.Arg416Gln) rs773658037 0.00003
NM_000527.5(LDLR):c.343C>T (p.Arg115Cys) rs774723292 0.00003
NM_000527.5(LDLR):c.986G>A (p.Cys329Tyr) rs761954844 0.00003
NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser) rs587779408 0.00003
NM_000545.8(HNF1A):c.827C>G (p.Ala276Gly) rs137853245 0.00003
NM_001130987.2(DYSF):c.3498T>A (p.Tyr1166Ter) rs758944159 0.00003
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln) rs121434351 0.00003
NM_001142800.2(EYS):c.6714del (p.Ile2239fs) rs752953889 0.00003
NM_001164508.2(NEB):c.12018+1G>A rs762278237 0.00003
NM_001164508.2(NEB):c.24588C>G (p.Tyr8196Ter) rs754272530 0.00003
NM_001308093.3(GATA4):c.1276G>A (p.Asp426Asn) rs56208331 0.00003
NM_003482.4(KMT2D):c.6638G>A (p.Gly2213Asp) rs368767696 0.00003
NM_003560.4(PLA2G6):c.1187-1G>A rs1477656610 0.00003
NM_003560.4(PLA2G6):c.1612C>T (p.Arg538Cys) rs370691849 0.00003
NM_003560.4(PLA2G6):c.2370_2371del (p.Tyr790_Glu791delinsTer) rs587784353 0.00003
NM_005327.7(HADH):c.706C>T (p.Arg236Ter) rs375717077 0.00003
NM_005912.3(MC4R):c.449C>T (p.Thr150Ile) rs766665118 0.00003
NM_007294.4(BRCA1):c.2447A>G (p.His816Arg) rs80357108 0.00003
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser) rs764571295 0.00003
NM_020451.3(SELENON):c.1010+1G>A rs908682527 0.00003
NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter) rs121908175 0.00003
NM_138425.4(C12orf57):c.1A>G (p.Met1Val) rs587776954 0.00003
NM_152328.5(ADSS1):c.781G>A (p.Asp261Asn) rs140614802 0.00003
NM_206933.4(USH2A):c.9882C>G (p.Cys3294Trp) rs749228276 0.00003
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln) rs587780290 0.00002
NM_000152.5(GAA):c.1076-22T>G rs762260678 0.00002
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg) rs772883420 0.00002
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys) rs765362308 0.00002
NM_000152.5(GAA):c.1735G>A (p.Glu579Lys) rs991082382 0.00002
NM_000152.5(GAA):c.1912G>T (p.Gly638Trp) rs757617999 0.00002
NM_000152.5(GAA):c.2015G>A (p.Arg672Gln) rs778418246 0.00002
NM_000152.5(GAA):c.2668G>C (p.Val890Leu) rs377286472 0.00002
NM_000152.5(GAA):c.971C>T (p.Pro324Leu) rs750030887 0.00002
NM_000158.4(GBE1):c.1468del (p.Leu490fs) rs774465102 0.00002
NM_000158.4(GBE1):c.671T>C (p.Leu224Pro) rs137852886 0.00002
NM_000169.3(GLA):c.335G>A (p.Arg112His) rs372966991 0.00002
NM_000169.3(GLA):c.593T>C (p.Ile198Thr) rs727503950 0.00002
NM_000283.4(PDE6B):c.1580T>C (p.Leu527Pro) rs760766981 0.00002
NM_000352.6(ABCC8):c.1501G>A (p.Glu501Lys) rs372307320 0.00002
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) rs72559722 0.00002
NM_000352.6(ABCC8):c.4308-2A>G rs886041391 0.00002
NM_000382.3(ALDH3A2):c.733G>A (p.Asp245Asn) rs72547568 0.00002
NM_000527.5(LDLR):c.1510A>G (p.Lys504Glu) rs730882103 0.00002
NM_000527.5(LDLR):c.1529C>T (p.Thr510Met) rs755154048 0.00002
NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys) rs185098634 0.00002
NM_001384140.1(PCDH15):c.2751+2T>C rs754543131 0.00002
NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter) rs202033121 0.00002
NM_003560.4(PLA2G6):c.1634A>G (p.Lys545Arg) rs121908681 0.00002
NM_003560.4(PLA2G6):c.1894C>T (p.Arg632Trp) rs121908683 0.00002
NM_003560.4(PLA2G6):c.2215G>C (p.Asp739His) rs587784349 0.00002
NM_003560.4(PLA2G6):c.2341G>A (p.Ala781Thr) rs139093920 0.00002
NM_005530.3(IDH3A):c.911C>A (p.Pro304His) rs756712426 0.00002
NM_006612.6(KIF1C):c.499C>T (p.Arg167Trp) rs185479618 0.00002
NM_007215.4(POLG2):c.1105A>G (p.Arg369Gly) rs201936720 0.00002
NM_012210.4(TRIM32):c.1181G>A (p.Arg394His) rs121434447 0.00002
NM_018082.6(POLR3B):c.2774C>T (p.Pro925Leu) rs775141057 0.00002
NM_000069.3(CACNA1S):c.2366G>A (p.Arg789His) rs1157720606 0.00001
NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys) rs776043976 0.00001
NM_000070.3(CAPN3):c.1343G>A (p.Arg448His) rs863224956 0.00001
NM_000070.3(CAPN3):c.1381C>T (p.Arg461Cys) rs1274808359 0.00001
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys) rs794726871 0.00001
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp) rs142004418 0.00001
NM_000070.3(CAPN3):c.1622G>A (p.Arg541Gln) rs398123143 0.00001
NM_000070.3(CAPN3):c.2092C>T (p.Arg698Cys) rs764370512 0.00001
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His) rs778768583 0.00001
NM_000083.3(CLCN1):c.1063G>A (p.Gly355Arg) rs767000881 0.00001
NM_000146.4(FTL):c.1A>G (p.Met1Val) rs139732572 0.00001
NM_000152.5(GAA):c.1082C>T (p.Pro361Leu) rs755253527 0.00001
NM_000152.5(GAA):c.1222A>G (p.Met408Val) rs560575383 0.00001
NM_000152.5(GAA):c.1327-2A>G rs1410829147 0.00001
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe) rs886043148 0.00001
NM_000152.5(GAA):c.1411_1414del (p.Glu471fs) rs770276275 0.00001
NM_000152.5(GAA):c.1441del (p.Trp481fs) rs1403500889 0.00001
NM_000152.5(GAA):c.1447G>A (p.Gly483Arg) rs770590394 0.00001
NM_000152.5(GAA):c.1551+1G>T rs770780848 0.00001
NM_000152.5(GAA):c.1556T>C (p.Met519Thr) rs786204720 0.00001
NM_000152.5(GAA):c.1561G>A (p.Glu521Lys) rs121907937 0.00001
NM_000152.5(GAA):c.1626C>G (p.Pro542=) rs947585663 0.00001
NM_000152.5(GAA):c.1796C>A (p.Ser599Tyr) rs753505203 0.00001
NM_000152.5(GAA):c.1799G>A (p.Arg600His) rs377544304 0.00001
NM_000152.5(GAA):c.1802C>T (p.Ser601Leu) rs374470794 0.00001
NM_000152.5(GAA):c.1826dup (p.Tyr609Ter) rs786204727 0.00001
NM_000152.5(GAA):c.1842G>A (p.Thr614=) rs373955374 0.00001
NM_000152.5(GAA):c.1843G>A (p.Gly615Arg) rs549029029 0.00001
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn) rs753269119 0.00001
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser) rs536906561 0.00001
NM_000152.5(GAA):c.1958C>A (p.Thr653Asn) rs763456921 0.00001
NM_000152.5(GAA):c.2014C>T (p.Arg672Trp) rs757111744 0.00001
NM_000152.5(GAA):c.2040+1G>T rs1057516928 0.00001
NM_000152.5(GAA):c.2104C>T (p.Arg702Cys) rs786204645 0.00001
NM_000152.5(GAA):c.2236T>G (p.Trp746Gly) rs1479740763 0.00001
NM_000152.5(GAA):c.2647-7G>A rs192679574 0.00001
NM_000152.5(GAA):c.281_282del (p.Pro94fs) rs1057516503 0.00001
NM_000152.5(GAA):c.2846T>A (p.Val949Asp) rs1245412108 0.00001
NM_000152.5(GAA):c.670C>T (p.Arg224Trp) rs757700700 0.00001
NM_000152.5(GAA):c.671G>A (p.Arg224Gln) rs200210219 0.00001
NM_000152.5(GAA):c.692+5G>T rs763027848 0.00001
NM_000152.5(GAA):c.871C>T (p.Leu291Phe) rs773417785 0.00001
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys) rs1057516600 0.00001
NM_000156.6(GAMT):c.224C>T (p.Ala75Val) rs1441030187 0.00001
NM_000156.6(GAMT):c.328-1G>A rs756772965 0.00001
NM_000156.6(GAMT):c.391+15G>T rs367567416 0.00001
NM_000156.6(GAMT):c.407C>T (p.Thr136Met) rs374724533 0.00001
NM_000157.4(GBA1):c.1505G>A (p.Arg502His) rs80356772 0.00001
NM_000157.4(GBA1):c.1603C>T (p.Arg535Cys) rs747506979 0.00001
NM_000157.4(GBA1):c.476G>A (p.Arg159Gln) rs79653797 0.00001
NM_000158.4(GBE1):c.1063C>T (p.Arg355Cys) rs780431086 0.00001
NM_000158.4(GBE1):c.1239del (p.Asp413fs) rs758504480 0.00001
NM_000158.4(GBE1):c.1300C>T (p.Arg434Ter) rs781198373 0.00001
NM_000158.4(GBE1):c.1604A>G (p.Tyr535Cys) rs886058900 0.00001
NM_000158.4(GBE1):c.1643G>A (p.Trp548Ter) rs137852894 0.00001
NM_000158.4(GBE1):c.1693C>T (p.Arg565Trp) rs552094593 0.00001
NM_000158.4(GBE1):c.1694G>A (p.Arg565Gln) rs774619760 0.00001
NM_000158.4(GBE1):c.1803+2T>C rs539203557 0.00001
NM_000158.4(GBE1):c.1883A>G (p.His628Arg) rs137852891 0.00001
NM_000158.4(GBE1):c.721A>G (p.Met241Val) rs747155575 0.00001
NM_000158.4(GBE1):c.771T>A (p.Phe257Leu) rs137852887 0.00001
NM_000158.4(GBE1):c.784C>T (p.Arg262Cys) rs137852893 0.00001
NM_000158.4(GBE1):c.895G>T (p.Gly299Ter) rs779475367 0.00001
NM_000162.5(GCK):c.370G>A (p.Asp124Asn) rs759072800 0.00001
NM_000169.3(GLA):c.1055C>G (p.Ala352Gly) rs869312162 0.00001
NM_000169.3(GLA):c.1087C>T (p.Arg363Cys) rs797044776 0.00001
NM_000169.3(GLA):c.1196G>C (p.Trp399Ser) rs782449839 0.00001
NM_000169.3(GLA):c.596T>C (p.Val199Ala) rs781871113 0.00001
NM_000169.3(GLA):c.868A>C (p.Met290Leu) rs375538532 0.00001
NM_000188.3(HK1):c.2539G>A (p.Glu847Lys) rs777849213 0.00001
NM_000195.5(HPS1):c.988-1G>T rs764927038 0.00001
NM_000203.5(IDUA):c.1045G>A (p.Asp349Asn) rs368454909 0.00001
NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys) rs794727896 0.00001
NM_000203.5(IDUA):c.1487C>G (p.Pro496Arg) rs772416503 0.00001
NM_000203.5(IDUA):c.191_192del (p.Tyr64fs) rs794727240 0.00001
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro) rs794726878 0.00001
NM_000283.4(PDE6B):c.739T>A (p.Phe247Ile) rs780521818 0.00001
NM_000310.4(PPT1):c.490C>T (p.Arg164Ter) rs386833649 0.00001
NM_000352.6(ABCC8):c.1532T>C (p.Leu511Pro) rs797045206 0.00001
NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln) rs72559734 0.00001
NM_000352.6(ABCC8):c.2556+1G>A rs749271190 0.00001
NM_000352.6(ABCC8):c.331G>A (p.Gly111Arg) rs761749884 0.00001
NM_000352.6(ABCC8):c.3641G>A (p.Arg1214Gln) rs367850779 0.00001
NM_000352.6(ABCC8):c.4411G>A (p.Asp1471Asn) rs72559716 0.00001
NM_000352.6(ABCC8):c.4477C>T (p.Arg1493Trp) rs28936371 0.00001
NM_000352.6(ABCC8):c.946G>A (p.Gly316Arg) rs1201126343 0.00001
NM_000458.4(HNF1B):c.345-11T>G rs200782591 0.00001
NM_000487.6(ARSA):c.827C>T (p.Thr276Met) rs74315472 0.00001
NM_000527.5(LDLR):c.1217G>A (p.Arg406Gln) rs552422789 0.00001
NM_000527.5(LDLR):c.1586G>A (p.Gly529Asp) rs878854025 0.00001
NM_000527.5(LDLR):c.1634G>A (p.Gly545Glu) rs759876319 0.00001
NM_000527.5(LDLR):c.1898G>A (p.Arg633His) rs754536745 0.00001
NM_000527.5(LDLR):c.2343G>T (p.Glu781Asp) rs761683856 0.00001
NM_000527.5(LDLR):c.325T>C (p.Cys109Arg) rs140807148 0.00001
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys) rs769383881 0.00001
NM_000527.5(LDLR):c.504C>A (p.Asp168Glu) rs777321035 0.00001
NM_000527.5(LDLR):c.523G>A (p.Asp175Asn) rs121908033 0.00001
NM_000527.5(LDLR):c.796G>A (p.Asp266Asn) rs875989907 0.00001
NM_000527.5(LDLR):c.949G>A (p.Glu317Lys) rs746834464 0.00001
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130 0.00001
NM_000545.8(HNF1A):c.1501G>A (p.Ala501Thr) rs371807951 0.00001
NM_000545.8(HNF1A):c.1663C>T (p.Leu555Phe) rs193922587 0.00001
NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg) rs201049092 0.00001
NM_001164508.2(NEB):c.13130_13131del (p.Met4377fs) rs1490309743 0.00001
NM_001164508.2(NEB):c.294+1G>A rs759956258 0.00001
NM_001252024.2(TRPM1):c.2695C>T (p.Arg899Ter) rs1485132228 0.00001
NM_001278512.2(AP3B2):c.2978_2979del (p.Pro993fs) rs1347618037 0.00001
NM_001354768.3(NRL):c.713G>T (p.Ter238Leu) rs754136527 0.00001
NM_001374504.1(TMPRSS6):c.1038C>A (p.Tyr346Ter) rs137853121 0.00001
NM_001374504.1(TMPRSS6):c.1355del (p.Glu452fs) rs1384933966 0.00001
NM_001384140.1(PCDH15):c.2419dup (p.Ile807fs) rs781148814 0.00001
NM_001384140.1(PCDH15):c.2785C>T (p.Arg929Ter) rs1057516342 0.00001
NM_001384140.1(PCDH15):c.3717+2dup rs1248401224 0.00001
NM_001384140.1(PCDH15):c.3983+1G>T rs758921360 0.00001
NM_001384140.1(PCDH15):c.400C>T (p.Arg134Ter) rs137853003 0.00001
NM_001384140.1(PCDH15):c.401G>A (p.Arg134Gln) rs767966376 0.00001
NM_001384140.1(PCDH15):c.4211+2T>G rs753832779 0.00001
NM_001384140.1(PCDH15):c.7C>T (p.Arg3Ter) rs137853001 0.00001
NM_003560.4(PLA2G6):c.1427+1G>A rs750939090 0.00001
NM_003560.4(PLA2G6):c.1442T>A (p.Leu481Gln) rs587784330 0.00001
NM_003560.4(PLA2G6):c.1613G>A (p.Arg538His) rs535486098 0.00001
NM_003560.4(PLA2G6):c.1627C>T (p.Arg543Cys) rs753874848 0.00001
NM_003560.4(PLA2G6):c.1771C>T (p.Arg591Trp) rs1043378899 0.00001
NM_003560.4(PLA2G6):c.1798C>T (p.Arg600Trp) rs368008077 0.00001
NM_003560.4(PLA2G6):c.1898C>T (p.Ala633Val) rs201657455 0.00001
NM_003560.4(PLA2G6):c.1957G>A (p.Gly653Ser) rs754204295 0.00001
NM_003560.4(PLA2G6):c.1974C>A (p.Asn658Lys) rs1048444597 0.00001
NM_003560.4(PLA2G6):c.2128C>T (p.Arg710Cys) rs587784347 0.00001
NM_003560.4(PLA2G6):c.2249G>A (p.Cys750Tyr) rs751225193 0.00001
NM_003560.4(PLA2G6):c.238G>A (p.Ala80Thr) rs121908685 0.00001
NM_003560.4(PLA2G6):c.929T>A (p.Val310Glu) rs121908682 0.00001
NM_003560.4(PLA2G6):c.986G>A (p.Arg329His) rs587784363 0.00001
NM_004092.4(ECHS1):c.72G>A (p.Trp24Ter) rs776926045 0.00001
NM_004646.4(NPHS1):c.1019C>A (p.Pro340His) rs386833861 0.00001
NM_004646.4(NPHS1):c.1048T>C (p.Ser350Pro) rs386833863 0.00001
NM_004646.4(NPHS1):c.320C>T (p.Ala107Val) rs386833934 0.00001
NM_005787.6(ALG3):c.165C>T (p.Gly55=) rs387906273 0.00001
NM_005912.3(MC4R):c.161T>C (p.Leu54Pro) rs376439188 0.00001
NM_005912.3(MC4R):c.494G>A (p.Arg165Gln) rs747681609 0.00001
NM_006295.3(VARS1):c.3355C>T (p.Arg1119Cys) rs149378938 0.00001
NM_007055.4(POLR3A):c.1048+5G>T rs890755853 0.00001
NM_007055.4(POLR3A):c.2005C>T (p.Arg669Ter) rs774007232 0.00001
NM_007055.4(POLR3A):c.2015G>A (p.Gly672Glu) rs267608670 0.00001
NM_007055.4(POLR3A):c.2119C>T (p.Gln707Ter) rs780839834 0.00001
NM_014140.4(SMARCAL1):c.2290C>T (p.Arg764Trp) rs1480919035 0.00001
NM_015474.4(SAMHD1):c.490C>T (p.Arg164Ter) rs267607027 0.00001
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys) rs746753722 0.00001
NM_018082.6(POLR3B):c.1857-2A>C rs267608686 0.00001
NM_018082.6(POLR3B):c.2302C>T (p.Arg768Cys) rs371453512 0.00001
NM_018082.6(POLR3B):c.3173A>G (p.Tyr1058Cys) rs751459271 0.00001
NM_018082.6(POLR3B):c.985C>T (p.Arg329Ter) rs758437925 0.00001
NM_019892.6(INPP5E):c.1021G>A (p.Gly341Ser) rs780882740 0.00001
NM_020451.3(SELENON):c.1209dup (p.Lys404fs) rs745715484 0.00001
NM_020451.3(SELENON):c.1358G>C (p.Trp453Ser) rs121908186 0.00001
NM_020451.3(SELENON):c.1375C>T (p.Gln459Ter) rs760063405 0.00001
NM_020451.3(SELENON):c.1396C>T (p.Arg466Trp) rs752156505 0.00001
NM_020451.3(SELENON):c.1405C>T (p.Arg469Trp) rs756927098 0.00001
NM_020451.3(SELENON):c.1469G>A (p.Trp490Ter) rs960468382 0.00001
NM_020451.3(SELENON):c.1501-1G>A rs750138587 0.00001
NM_020451.3(SELENON):c.481C>T (p.Arg161Ter) rs778603129 0.00001
NM_020451.3(SELENON):c.565C>T (p.Arg189Ter) rs775713184 0.00001
NM_020451.3(SELENON):c.872G>A (p.Arg291Gln) rs199564797 0.00001
NM_020451.3(SELENON):c.878A>G (p.His293Arg) rs776738184 0.00001
NM_024753.5(TTC21B):c.2258C>T (p.Pro753Leu) rs539769126 0.00001
NM_025137.4(SPG11):c.1492C>T (p.Gln498Ter) rs312262728 0.00001
NM_033380.3(COL4A5):c.3508G>A (p.Gly1170Ser) rs104886237 0.00001
NM_138422.4(ADAT3):c.430G>A (p.Val144Met) rs730882213 0.00001
NM_138694.4(PKHD1):c.2279G>A (p.Arg760His) rs745770404 0.00001
NM_152564.5(VPS13B):c.4336C>T (p.Arg1446Ter) rs386834086 0.00001
NM_152564.5(VPS13B):c.6125T>A (p.Leu2042Ter) rs371364257 0.00001
NM_152906.7(TANGO2):c.256C>T (p.Arg86Ter) rs1162037663 0.00001
NM_152906.7(TANGO2):c.460G>A (p.Gly154Arg) rs752298579 0.00001
NM_152906.7(TANGO2):c.711-3C>G rs367912276 0.00001
NM_177550.5(SLC13A5):c.1022G>A (p.Trp341Ter) rs150203483 0.00001
NM_177550.5(SLC13A5):c.1280C>T (p.Ser427Leu) rs548065551 0.00001
NM_177550.5(SLC13A5):c.1514C>T (p.Pro505Leu) rs936922976 0.00001
NM_177550.5(SLC13A5):c.425C>T (p.Thr142Met) rs761917087 0.00001
NM_201525.4(ADGRG1):c.367C>T (p.Gln123Ter) rs1047016803 0.00001
NM_000022.4(ADA):c.956_960del (p.Glu319fs) rs771266745
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter) rs128624221
NM_000049.4(ASPA):c.530T>C (p.Ile177Thr) rs1597438977
NM_000070.3(CAPN3):c.1030-1G>A rs1555421263
NM_000070.3(CAPN3):c.1333G>A (p.Gly445Arg) rs773827877
NM_000070.3(CAPN3):c.146G>A (p.Arg49His) rs863224958
NM_000070.3(CAPN3):c.2212C>T (p.Gln738Ter) rs1595847257
NM_000070.3(CAPN3):c.2380+2T>G rs761935462
NM_000070.3(CAPN3):c.509A>G (p.Tyr170Cys) rs1555420468
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800
NM_000070.3(CAPN3):c.701G>A (p.Gly234Glu) rs1555420634
NM_000080.4(CHRNE):c.713G>A (p.Arg238Gln) rs2151097307
NM_000135.4(FANCA):c.4010+1_4010+18del rs752457319
NM_000146.4(FTL):c.-161C>T rs398124636
NM_000152.5(GAA):c.-32-2A>G rs1445232530
NM_000152.5(GAA):c.1003G>A (p.Gly335Arg) rs202095215
NM_000152.5(GAA):c.1051del (p.Val351fs) rs786204507
NM_000152.5(GAA):c.1124G>T (p.Arg375Leu) rs142752477
NM_000152.5(GAA):c.1143del (p.Ala382fs) rs757458607
NM_000152.5(GAA):c.1190C>T (p.Pro397Leu) rs776008078
NM_000152.5(GAA):c.1375G>A (p.Asp459Asn) rs535644999
NM_000152.5(GAA):c.1432G>A (p.Gly478Arg) rs778068209
NM_000152.5(GAA):c.1437+1G>A rs1555600575
NM_000152.5(GAA):c.1437G>A (p.Lys479=) rs796051877
NM_000152.5(GAA):c.1438-1G>C rs147804176
NM_000152.5(GAA):c.1438-1G>T rs147804176
NM_000152.5(GAA):c.1465G>A (p.Asp489Asn) rs398123169
NM_000152.5(GAA):c.1496G>A (p.Trp499Ter) rs766680292
NM_000152.5(GAA):c.1562A>T (p.Glu521Val) rs1455277014
NM_000152.5(GAA):c.1802C>G (p.Ser601Trp) rs374470794
NM_000152.5(GAA):c.1832G>A (p.Gly611Asp) rs1057517105
NM_000152.5(GAA):c.1841C>A (p.Thr614Lys) rs369531647
NM_000152.5(GAA):c.1844G>A (p.Gly615Glu) rs1243515778
NM_000152.5(GAA):c.1888+1G>A rs776325453
NM_000152.5(GAA):c.1905C>A (p.Asn635Lys) rs1414146587
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn) rs368438393
NM_000152.5(GAA):c.1933G>C (p.Asp645His) rs368438393
NM_000152.5(GAA):c.1933G>T (p.Asp645Tyr) rs368438393
NM_000152.5(GAA):c.1978C>T (p.Arg660Cys) rs759518659
NM_000152.5(GAA):c.2041-1G>A rs760731229
NM_000152.5(GAA):c.2064C>T (p.Ser688=) rs140996643
NM_000152.5(GAA):c.2214G>A (p.Trp738Ter) rs1057516328
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser) rs752921215
NM_000152.5(GAA):c.2238G>A (p.Trp746Ter) rs1800312
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000152.5(GAA):c.2242dup (p.Glu748fs) rs777275355
NM_000152.5(GAA):c.2297A>C (p.Tyr766Ser) rs144016984
NM_000152.5(GAA):c.2501_2502del (p.Thr834fs) rs886043343
NM_000152.5(GAA):c.2544del (p.Lys849fs) rs398123173
NM_000152.5(GAA):c.2815_2816del (p.Val939fs) rs763359208
NM_000152.5(GAA):c.343C>T (p.Gln115Ter) rs786204614
NM_000152.5(GAA):c.3G>A (p.Met1Ile) rs1187796945
NM_000152.5(GAA):c.525_526del (p.Asn177fs) rs767882689
NM_000152.5(GAA):c.546+5G>T rs756024023
NM_000152.5(GAA):c.546G>C (p.Thr182=) rs143523371
NM_000152.5(GAA):c.569G>A (p.Arg190His) rs528367092
NM_000152.5(GAA):c.573C>A (p.Tyr191Ter) rs376229714
NM_000152.5(GAA):c.710C>T (p.Ala237Val) rs121907944
NM_000156.6(GAMT):c.261G>A (p.Trp87Ter) rs761115975
NM_000156.6(GAMT):c.440_441del (p.His147fs) rs1487842051
NM_000156.6(GAMT):c.491G>A (p.Gly164Asp) rs760101382
NM_000156.6(GAMT):c.507_521dup (p.Cys169_Ser173dup) rs779931959
NM_000156.6(GAMT):c.91_92insCACGG (p.Asp31fs) rs1443859067
NM_000157.4(GBA1):c.1208G>C (p.Ser403Thr) rs121908307
NM_000158.4(GBE1):c.1336-1G>A rs375253942
NM_000158.4(GBE1):c.1484T>C (p.Met495Thr) rs1456579860
NM_000158.4(GBE1):c.1561A>T (p.Lys521Ter) rs773775991
NM_000158.4(GBE1):c.1706del (p.His568_Leu569insTer) rs1367364158
NM_000158.4(GBE1):c.1788G>A (p.Trp596Ter) rs201029706
NM_000158.4(GBE1):c.1825G>T (p.Glu609Ter) rs772802187
NM_000158.4(GBE1):c.791G>A (p.Gly264Glu) rs754525424
NM_000158.4(GBE1):c.992+2T>G rs772349876
NM_000162.5(GCK):c.1019G>T (p.Ser340Ile) rs1376631949
NM_000162.5(GCK):c.1160C>T (p.Ala387Val) rs193921338
NM_000162.5(GCK):c.1207C>G (p.Arg403Gly) rs193922271
NM_000162.5(GCK):c.1240A>G (p.Lys414Glu) rs193922272
NM_000162.5(GCK):c.128G>A (p.Arg43His) rs764232985
NM_000162.5(GCK):c.214G>A (p.Gly72Arg) rs193922289
NM_000162.5(GCK):c.316C>T (p.Gln106Ter) rs2096281702
NM_000162.5(GCK):c.682A>G (p.Thr228Ala) rs1332966015
NM_000162.5(GCK):c.748C>T (p.Arg250Cys) rs1057524904
NM_000169.3(GLA):c.1102G>A (p.Ala368Thr) rs144994244
NM_000169.3(GLA):c.1102G>C (p.Ala368Pro) rs144994244
NM_000195.5(HPS1):c.972dup (p.Met325fs) rs281865082
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro) rs121965027
NM_000203.5(IDUA):c.1598C>T (p.Pro533Leu) rs121965021
NM_000203.5(IDUA):c.1893del (p.Phe632fs) rs1553917754
NM_000203.5(IDUA):c.1898C>G (p.Ser633Trp) rs886043347
NM_000203.5(IDUA):c.590-7G>A rs762411583
NM_000203.5(IDUA):c.793-9C>T rs375798875
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr) rs104894422
NM_000232.5(SGCB):c.278G>C (p.Gly93Ala) rs1018529334
NM_000298.6(PKLR):c.375+10G>T rs8177971
NM_000302.4(PLOD1):c.1651-2A>C rs565513365
NM_000352.6(ABCC8):c.1672-20A>G rs931436550
NM_000352.6(ABCC8):c.2171T>C (p.Leu724Pro) rs1402090677
NM_000352.6(ABCC8):c.239T>G (p.Met80Arg) rs797045208
NM_000352.6(ABCC8):c.3130_3149del (p.Thr1044fs) rs886041392
NM_000352.6(ABCC8):c.3400-1G>A rs576684889
NM_000352.6(ABCC8):c.4055G>C (p.Arg1352Pro) rs28936370
NM_000352.6(ABCC8):c.4322del (p.Pro1441fs) rs758844607
NM_000352.6(ABCC8):c.4412-13G>A rs1008906426
NM_000352.6(ABCC8):c.536_539del (p.Leu178_Tyr179insTer) rs770664202
NM_000352.6(ABCC8):c.579+2T>A rs1449198328
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000384.3(APOB):c.9175C>T (p.Arg3059Cys)
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314
NM_000426.4(LAMA2):c.2556del (p.Phe852fs) rs750731624
NM_000435.3(NOTCH3):c.6405_6406del (p.Leu2137fs)
NM_000458.4(HNF1B):c.1006C>T (p.His336Tyr)
NM_000458.4(HNF1B):c.1024T>C (p.Ser342Pro)
NM_000458.4(HNF1B):c.202G>C (p.Gly68Arg) rs767576616
NM_000458.4(HNF1B):c.526C>T (p.Gln176Ter)
NM_000458.4(HNF1B):c.949G>T (p.Ala317Ser)
NM_000481.4(AMT):c.1033+1G>C rs2107928969
NM_000489.6(ATRX):c.536A>G (p.Asn179Ser) rs398123425
NM_000527.5(LDLR):c.1045C>T (p.Gln349Ter) rs748300548
NM_000527.5(LDLR):c.1060+10G>A
NM_000527.5(LDLR):c.1061A>G (p.Asp354Gly) rs755449669
NM_000527.5(LDLR):c.1069G>A (p.Glu357Lys) rs879254781
NM_000527.5(LDLR):c.1090T>C (p.Cys364Arg)
NM_000527.5(LDLR):c.1196C>A (p.Ala399Asp) rs875989918
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
NM_000527.5(LDLR):c.1252G>A (p.Glu418Lys)
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
NM_000527.5(LDLR):c.1291G>C (p.Ala431Pro) rs28942079
NM_000527.5(LDLR):c.1381G>A (p.Gly461Ser) rs193922568
NM_000527.5(LDLR):c.1424C>T (p.Ala475Val) rs879254897
NM_000527.5(LDLR):c.1467C>G (p.Tyr489Ter) rs370777955
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
NM_000527.5(LDLR):c.1586+5G>C rs781362878
NM_000527.5(LDLR):c.1721G>T (p.Arg574Leu) rs777188764
NM_000527.5(LDLR):c.1723C>T (p.Leu575Phe) rs1205480064
NM_000527.5(LDLR):c.1745T>C (p.Leu582Pro) rs875989930
NM_000527.5(LDLR):c.1860G>T (p.Trp620Cys) rs875989933
NM_000527.5(LDLR):c.1879G>A (p.Ala627Thr) rs879255066
NM_000527.5(LDLR):c.2037T>A (p.Tyr679Ter) rs760436036
NM_000527.5(LDLR):c.2260G>T (p.Gly754Trp) rs559239150
NM_000527.5(LDLR):c.226G>T (p.Gly76Trp) rs574337291
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
NM_000527.5(LDLR):c.2475C>G (p.Asn825Lys) rs374045590
NM_000527.5(LDLR):c.2479G>T (p.Val827Phe) rs137853964
NM_000527.5(LDLR):c.313+1G>C rs112029328
NM_000527.5(LDLR):c.313_313+1del rs875989896
NM_000527.5(LDLR):c.590G>T (p.Cys197Phe) rs376459828
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
NM_000527.5(LDLR):c.887G>A (p.Cys296Tyr) rs879254707
NM_000527.5(LDLR):c.912C>G (p.Asp304Glu) rs875989909
NM_000540.3(RYR1):c.13892A>C (p.Tyr4631Ser) rs1568593922
NM_000543.5(SMPD1):c.151_154del (p.Asp51fs) rs1057516949
NM_000545.8(HNF1A):c.1135C>A (p.Pro379Thr) rs754729248
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala) rs754729248
NM_000545.8(HNF1A):c.343G>T (p.Val115Leu) rs1876667856
NM_000545.8(HNF1A):c.779C>T (p.Thr260Met) rs886039544
NM_000545.8(HNF1A):c.827C>A (p.Ala276Asp) rs137853245
NM_000548.5(TSC2):c.5094C>A (p.Ser1698Arg) rs45514196
NM_000642.3(AGL):c.1384del (p.Trp461_Val462insTer) rs786204678
NM_001011.4(RPS7):c.-19+1G>A rs1064796859
NM_001031710.3(KLHL7):c.422T>C (p.Val141Ala) rs1554286384
NM_001032382.2(PQBP1):c.586C>T (p.Arg196Ter) rs1557041672
NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs) rs1555961852
NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs) rs398122960
NM_001040436.3(YARS2):c.156C>G (p.Phe52Leu) rs267607180
NM_001081550.2(THOC2):c.2087C>T (p.Thr696Ile) rs1556024875
NM_001100.4(ACTA1):c.236C>T (p.Thr79Ile) rs1659978452
NM_001100.4(ACTA1):c.541del (p.Asp181fs) rs759242559
NM_001103.4(ACTN2):c.2194_2226del (p.Ala732_Ile742del) rs1572148914
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln) rs1057520918
NM_001127898.4(CLCN5):c.2320C>T (p.Arg774Ter) rs151340624
NM_001128431.4(SLC39A14):c.751-9C>G rs1039778197
NM_001130987.2(DYSF):c.4179del (p.Lys1394fs) rs1574340607
NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys) rs786205084
NM_001134407.3(GRIN2A):c.3042G>A (p.Trp1014Ter) rs1306036000
NM_001134831.2(AHI1):c.1799_1802del (p.Lys600fs) rs1786504555
NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu) rs794727174
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs) rs761238771
NM_001142966.3(GREB1L):c.5068G>A (p.Val1690Met) rs1555663997
NM_001164508.2(NEB):c.13147C>T (p.Gln4383Ter) rs1212374733
NM_001164508.2(NEB):c.19102-10_19102-4del rs1577576425
NM_001164508.2(NEB):c.24211_24212dup (p.Leu8071fs) rs1553552384
NM_001164508.2(NEB):c.24666del (p.Phe8222fs) rs794727136
NM_001164508.2(NEB):c.5343+5G>A rs2154175371
NM_001199198.3(TBC1D23):c.1687+2T>A rs1553731605
NM_001205254.2(OCLN):c.173_194del (p.Trp58fs) rs797045841
NM_001244008.2(KIF1A):c.920G>A (p.Arg307Gln) rs1064793161
NM_001267550.2(TTN):c.81723T>A (p.Tyr27241Ter) rs769821404
NM_001267550.2(TTN):c.96901del (p.Arg32301fs)
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu) rs267608501
NM_001352754.2(ARMC9):c.1027C>A (p.Arg343Ser) rs759799287
NM_001356.5(DDX3X):c.173C>G (p.Ser58Ter) rs1602126980
NM_001367721.1(CASK):c.2074C>T (p.Gln692Ter) rs587783361
NM_001368882.1(COL13A1):c.513del (p.Gly172fs) rs1564932829
NM_001370658.1(BTD):c.152T>C (p.Leu51Pro) rs397514333
NM_001371986.1(UNC80):c.8256+2T>G rs1575179679
NM_001374828.1(ARID1B):c.3955dup (p.Gln1319fs) rs1289067120
NM_001374828.1(ARID1B):c.6028del (p.Ala2010fs) rs1794490994
NM_001374828.1(ARID1B):c.6072dup (p.Lys2025Ter) rs886041878
NM_001375380.1(EBF3):c.422A>G (p.Tyr141Cys) rs1057519519
NM_001377142.1(PLCB4):c.1924G>A (p.Asp642Asn) rs1568763104
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_001382273.1(TNK2):c.1957G>A (p.Val653Met) rs201407161
NM_001384140.1(PCDH15):c.1737C>G (p.Tyr579Ter) rs1057517251
NM_001384140.1(PCDH15):c.2825del (p.Gly942fs) rs758685587
NM_001384140.1(PCDH15):c.4990dup (p.Met1664fs) rs766484375
NM_001451.3(FOXF1):c.881_902dup (p.Gly302fs)
NM_001673.5(ASNS):c.1084T>G (p.Phe362Val) rs398122973
NM_001759.4(CCND2):c.839C>A (p.Thr280Asn) rs587777620
NM_001792.5(CDH2):c.1057G>A (p.Asp353Asn) rs1599017933
NM_001807.6(CEL):c.1776del (p.Val593fs) rs193922638
NM_001848.3(COL6A1):c.1056+1G>A rs398123631
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) rs752746786
NM_002241.5(KCNJ10):c.595C>T (p.Arg199Ter) rs137853067
NM_003055.3(SLC18A3):c.557G>C (p.Gly186Ala) rs1057517665
NM_003283.6(TNNT1):c.74-67C>A
NM_003477.3(PDHX):c.557del (p.Pro186fs)
NM_003482.4(KMT2D):c.15061C>T (p.Arg5021Ter) rs587783695
NM_003560.4(PLA2G6):c.1186+1G>A rs761815070
NM_003560.4(PLA2G6):c.1547C>T (p.Ala516Val)
NM_003560.4(PLA2G6):c.1592-2A>C rs1465629909
NM_003560.4(PLA2G6):c.1670C>T (p.Ser557Leu)
NM_003560.4(PLA2G6):c.1765_1768del (p.Ser589fs)
NM_003560.4(PLA2G6):c.1778C>T (p.Pro593Leu) rs1451486649
NM_003560.4(PLA2G6):c.1904G>A (p.Arg635Gln) rs387906863
NM_003560.4(PLA2G6):c.2251G>A (p.Glu751Lys)
NM_003560.4(PLA2G6):c.2349G>A (p.Trp783Ter) rs775386225
NM_003560.4(PLA2G6):c.668C>T (p.Pro223Leu) rs776753796
NM_003560.4(PLA2G6):c.755del (p.Asn252fs) rs587784361
NM_003560.4(PLA2G6):c.757G>A (p.Gly253Ser) rs745643715
NM_003632.3(CNTNAP1):c.1163G>C (p.Arg388Pro) rs779027563
NM_003676.4(DEGS1):c.320G>A (p.Trp107Ter) rs1382083552
NM_003676.4(DEGS1):c.852_855del (p.Tyr283_Tyr284insTer) rs2102658561
NM_003906.5(MCM3AP):c.5423del (p.Gly1808fs) rs747306849
NM_004006.3(DMD):c.10429C>T (p.Gln3477Ter) rs895755247
NM_004006.3(DMD):c.3432+2036A>G rs182575709
NM_004369.4(COL6A3):c.6199G>A (p.Glu2067Lys) rs760446904
NM_004408.4(DNM1):c.1335+1638G>A rs747079285
NM_004463.3(FGD1):c.527dup (p.Leu177fs) rs756586058
NM_004928.3(CFAP410):c.143+3A>T
NM_004928.3(CFAP410):c.441_444del (p.Glu148fs) rs756970705
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met) rs1555889162
NM_004991.4(MECOM):c.2812C>T (p.Arg938Trp) rs864309724
NM_005321.3(H1-4):c.408dup (p.Lys137fs) rs1581429395
NM_005327.7(HADH):c.587del (p.Ser196fs) rs745727504
NM_005677.4(COLQ):c.444G>A (p.Trp148Ter) rs1369980189
NM_005802.5(TOPORS):c.2554_2557del (p.Glu852fs) rs527236116
NM_005876.5(SPEG):c.8965_8989dup (p.Val2997fs) rs1575201712
NM_005912.3(MC4R):c.63_64del (p.Tyr21_Arg22delinsTer) rs770293321
NM_005912.3(MC4R):c.835_836dup (p.Phe280fs) rs193922687
NM_006009.4(TUBA1A):c.1169G>C (p.Arg390Pro) rs1064796460
NM_006009.4(TUBA1A):c.641G>A (p.Arg214His) rs1057517843
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs) rs543698823
NM_006445.4(PRPF8):c.5803C>T (p.Arg1935Cys) rs1911322255
NM_006445.4(PRPF8):c.6334AAG[1] (p.Lys2113del) rs1911196248
NM_006445.4(PRPF8):c.6928A>G (p.Arg2310Gly) rs752997229
NM_006618.5(KDM5B):c.712-4del rs558975598
NM_006642.5(SDCCAG8):c.1120C>T (p.Arg374Ter) rs770084716
NM_006831.3(CLP1):c.419G>A (p.Arg140His) rs587777616
NM_007055.4(POLR3A):c.1771-6C>G rs115020338
NM_007055.4(POLR3A):c.1771-7C>G rs201314157
NM_007055.4(POLR3A):c.3583del (p.Asp1195fs) rs747683665
NM_014014.5(SNRNP200):c.2041C>T (p.Arg681Cys) rs959069360
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys) rs1555582065
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter) rs752059006
NM_014704.4(CEP104):c.300_301del (p.Leu100_Cys101insTer) rs1484807480
NM_014738.6(TMEM94):c.2734C>T (p.Arg912Ter) rs557746506
NM_014795.4(ZEB2):c.1884del (p.Phe628fs) rs786204811
NM_014795.4(ZEB2):c.3095del (p.Cys1032fs) rs1060500653
NM_014845.6(FIG4):c.2433AGA[2] (p.Glu813del) rs876661144
NM_015166.4(MLC1):c.833A>G (p.Tyr278Cys) rs1569244190
NM_015192.4(PLCB1):c.664C>T (p.Arg222Ter) rs990536521
NM_015272.5(RPGRIP1L):c.3594G>A (p.Trp1198Ter) rs1567800920
NM_015629.4(PRPF31):c.1146+2T>G rs2073971890
NM_015629.4(PRPF31):c.1165C>T (p.Gln389Ter) rs2146449862
NM_015634.4(KIFBP):c.1083dup (p.Ala362fs) rs769950460
NM_016580.4(PCDH12):c.2765_2766del (p.Pro922fs) rs1596646165
NM_017414.4(USP18):c.652C>T (p.Gln218Ter) rs1085307118
NM_017780.4(CHD7):c.4015C>T (p.Arg1339Ter) rs1563644066
NM_017780.4(CHD7):c.6079C>T (p.Arg2027Ter) rs886040995
NM_017825.3(ADPRS):c.1038C>G (p.Tyr346Ter) rs531916765
NM_017946.4(FKBP14):c.428C>G (p.Ser143Ter)
NM_018082.6(POLR3B):c.986G>A (p.Arg329Gln)
NM_018136.5(ASPM):c.4363G>T (p.Glu1455Ter) rs1057520873
NM_019109.5(ALG1):c.434G>A (p.Gly145Asp) rs387906926
NM_020366.4(RPGRIP1):c.2367+23del rs781728563
NM_020451.3(SELENON):c.1379C>T (p.Ser460Phe) rs767530943
NM_020451.3(SELENON):c.1406G>A (p.Arg469Gln) rs779162837
NM_020451.3(SELENON):c.249_250dup (p.Asp84fs) rs1553198611
NM_020451.3(SELENON):c.402_403+2del rs773670891
NM_020451.3(SELENON):c.863_864del (p.Val288fs) rs1184282261
NM_020451.3(SELENON):c.873-2A>G rs1176143542
NM_020919.4(ALS2):c.1054_1061del (p.Leu352fs) rs1574786170
NM_020919.4(ALS2):c.4573dup (p.Val1525fs) rs730882256
NM_020919.4(ALS2):c.470G>A (p.Cys157Tyr) rs121908138
NM_022081.6(HPS4):c.1132C>T (p.Gln378Ter) rs369053765
NM_022081.6(HPS4):c.461A>G (p.His154Arg) rs281865098
NM_022081.6(HPS4):c.47del (p.Asn16fs)
NM_024298.5(MBOAT7):c.126_145del (p.Leu43fs) rs886041058
NM_024769.5(CLMP):c.508C>T (p.Arg170Ter) rs765907815
NM_024818.6(UBA5):c.907T>C (p.Cys303Arg) rs1553770577
NM_030632.3(ASXL3):c.1849_1850del (p.Ser617fs) rs1599563995
NM_032856.5(WDR73):c.766dup (p.Arg256fs) rs727502864
NM_033028.5(BBS4):c.864+1G>C rs2151047618
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) rs794727197
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg) rs104886189
NM_033629.6(TREX1):c.144dup (p.Thr49fs) rs748914604
NM_052867.4(NALCN):c.537del (p.Ile178_Trp179insTer) rs1594759803
NM_138576.4(BCL11B):c.2421C>G (p.Asn807Lys) rs888230251
NM_138927.4(SON):c.5753_5756del (p.Val1918fs) rs886039773
NM_152263.4(TPM3):c.118-12G>A
NM_152424.4(AMER1):c.1489C>T (p.Arg497Ter) rs1930251154
NM_152443.3(RDH12):c.164C>T (p.Thr55Met) rs766631462
NM_152443.3(RDH12):c.215A>G (p.Asp72Gly) rs1594865341
NM_152443.3(RDH12):c.883C>T (p.Arg295Ter) rs200387832
NM_152564.5(VPS13B):c.10558_10561del (p.Phe3520fs) rs1354326532
NM_152564.5(VPS13B):c.9185dup (p.Leu3062fs) rs180177329
NM_152618.3(BBS12):c.1893_1894del (p.Pro632fs) rs1560708847
NM_152906.7(TANGO2):c.59T>G (p.Leu20Arg) rs1191958022
NM_173660.5(DOK7):c.533-2A>G
NM_174936.4(PCSK9):c.1394C>T (p.Ser465Leu) rs778849441
NM_174936.4(PCSK9):c.323T>G (p.Leu108Arg) rs1057519691
NM_175914.5(HNF4A):c.869G>A (p.Arg290His) rs1191912908
NM_175914.5(HNF4A):c.926G>T (p.Arg309Leu) rs369429452
NM_175914.5(HNF4A):c.932G>A (p.Arg311His) rs1375557127
NM_177550.5(SLC13A5):c.1511del (p.Leu504fs) rs1211773372
NM_182931.3(KMT2E):c.1130+2T>C rs1554394210
NM_182931.3(KMT2E):c.1776_1780del (p.Lys593fs) rs1562927768
NM_182931.3(KMT2E):c.280del (p.Thr94fs) rs1584746915
NM_198271.5(LMOD3):c.723_733del (p.Asp242fs) rs769824247
NM_201253.3(CRB1):c.613_619del (p.Ile205fs) rs62645752
NM_201525.4(ADGRG1):c.1442T>C (p.Leu481Pro) rs587783653
NM_201548.5(CERKL):c.420del (p.Ile141fs) rs398122962
NM_206933.4(USH2A):c.1111_1112del (p.Ile371fs) rs1366496013
NM_206933.4(USH2A):c.13339A>G (p.Met4447Val) rs139474806
NM_207034.3(EDN3):c.49G>A (p.Ala17Thr) rs11570255
NM_213599.3(ANO5):c.191dup (p.Asn64fs) rs137854521
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.