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

Minimum review status of the submission from Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard:	clinical testing curation literature only research other
Minimum review status of the other submission:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the other submission:	clinical testing curation literature only research other
Minimum conflict level: confidence conflict (e.g. benign vs likely benign) benign or likely benign vs uncertain conflict category conflict (e.g. benign vs affects) clinically significant conflict (e.g. benign vs pathogenic) Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)

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
2375	767	3	686	96	4	402	1115

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	protective	other
	pathogenic	1	222	20	2	1	1	1	1
	likely pathogenic	404	1	41	2	1	0	0	0
	uncertain significance	168	234	1	34	10	0	0	0
	likely benign	7	2	42	0	27	0	0	0
	benign	8	2	18	36	0	0	0	2

Submitter to submitter summary #

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
Labcorp Genetics (formerly Invitae), Labcorp	0	400	1	189	16	2	97	304
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	200	0	93	4	0	59	156
Natera, Inc.	0	341	0	89	11	0	51	151
OMIM	0	157	0	77	6	0	51	133
Baylor Genetics	0	202	0	83	1	0	31	115
Counsyl	0	94	0	77	1	0	15	93
Fulgent Genetics, Fulgent Genetics	0	193	0	53	1	0	28	82
Illumina Laboratory Services, Illumina	0	95	0	40	30	0	5	74
3billion	0	116	0	37	2	0	8	47
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel	0	98	0	32	4	0	9	45
Genome-Nilou Lab	0	130	0	23	16	0	6	45
Mendelics	0	44	0	24	3	0	11	37
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	85	0	26	1	0	10	37
LDLR-LOVD, British Heart Foundation	0	19	0	9	4	0	23	36
Revvity Omics, Revvity	0	89	0	21	1	0	13	34
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	36	0	17	1	0	12	30
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum	0	8	0	8	2	0	16	26
Institute of Human Genetics, University of Leipzig Medical Center	0	49	0	17	0	0	8	25
Color Diagnostics, LLC DBA Color Health	0	50	0	5	6	0	12	23
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix	0	12	0	7	3	0	10	20
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	56	0	11	2	0	5	18
Neuberg Centre For Genomic Medicine, NCGM	0	50	0	12	0	0	6	18
GeneDx	0	13	0	9	4	0	5	17
NIHR Bioresource Rare Diseases, University of Cambridge	0	22	0	11	0	0	6	17
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel	0	21	0	5	1	0	10	16
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille	0	12	0	6	0	0	10	16
Juno Genomics, Hangzhou Juno Genomics, Inc	0	24	0	5	0	0	10	15
Undiagnosed Diseases Network, NIH	0	17	0	8	0	0	8	15
Genetic Services Laboratory, University of Chicago	0	36	0	5	3	0	6	14
Institute of Human Genetics Munich, TUM University Hospital	0	39	0	8	0	0	6	14
Robarts Research Institute, Western University	0	10	0	6	1	0	7	14
Variantyx, Inc.	0	41	0	9	0	0	5	14
All of Us Research Program, National Institutes of Health	0	33	0	4	1	0	8	13
Department of Pathology and Laboratory Medicine, Sinai Health System	0	44	0	8	0	0	5	13
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital	0	3	0	7	0	0	5	12
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	9	0	7	0	0	5	12
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service	0	6	0	2	0	0	9	11
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	0	3	2	1	1	0	7	11
Myriad Genetics, Inc.	0	40	0	6	0	0	5	11
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	43	0	7	2	0	1	10
ClinGen Monogenic Diabetes Variant Curation Expert Panel	0	2	0	4	2	0	4	10
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	0	16	0	7	0	0	3	10
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub	0	9	0	4	0	0	6	10
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	10	0	4	0	0	6	10
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	0	19	0	6	0	0	5	10
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	0	1	0	1	8	0	1	10
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge	0	3	0	3	0	0	6	9
CeGaT Center for Human Genetics Tuebingen	0	3	0	5	2	0	2	9
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine	0	6	0	7	0	0	2	9
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	27	0	6	0	0	3	9
CENTOGENE GmbH and LLC - Guiding Precision Medicine	0	17	0	5	0	0	3	8
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	17	0	7	0	0	1	8
First Genomix Gene Laboratory, Genetic Diagnostics Department	0	13	0	4	0	0	4	8
Geisinger Clinic, Geisinger Health System	0	5	0	2	0	0	6	8
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II	0	0	0	3	0	0	5	8
MGZ Medical Genetics Center	0	41	0	6	0	0	2	8
SIB Swiss Institute of Bioinformatics	0	5	0	5	1	0	2	8
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	10	0	5	0	0	2	7
Fundacion Hipercolesterolemia Familiar	0	13	0	3	0	0	4	7
GeneReviews	0	143	0	5	0	0	2	7
Genomics England Pilot Project, Genomics England	0	6	0	7	0	0	0	7
Iberoamerican FH Network	0	8	0	1	0	0	6	7
Sharon lab, Hadassah-Hebrew University Medical Center	0	13	0	6	0	0	1	7
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	7	0	3	0	0	3	6
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	4246	5	0	3	0	0	4	6
Department of Human Genetics, Hannover Medical School	0	9	0	4	0	0	2	6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	0	19	0	3	0	0	3	6
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	0	4	0	6	0	0	1	6
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation	0	6	0	3	0	0	3	6
Ocular Genomics Institute, Massachusetts Eye and Ear	0	11	0	2	0	0	4	6
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel	0	7	0	6	0	0	0	6
Rolfs Rare Disease Consulting, Rolfs Consulting Und Verwaltungs GmbH	0	3	0	0	0	0	6	6
Ambry Genetics	0	9	0	1	1	0	4	5
Athena Diagnostics	0	3	0	5	0	0	1	5
Clinical Genetics Laboratory, Skane University Hospital Lund	0	6	0	2	0	0	3	5
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital	0	4	0	1	0	0	4	5
Eurofins Ntd Llc (ga)	0	5	0	1	4	1	1	5
Genomenon, Inc, Genomenon, Inc	0	20	0	2	1	0	2	5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	19	0	3	0	0	2	5
Johns Hopkins Genomics, Johns Hopkins University	0	15	0	4	0	0	1	5
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	0	17	0	3	0	0	2	5
Medical and Scientific Branch, Hong Kong Genome Institute	0	4	0	3	0	0	2	5
Molecular Diagnostics Lab, Nemours Children's Health, Delaware	0	5	0	1	0	0	4	5
Molecular Genetics, Royal Melbourne Hospital	0	11	0	2	0	0	3	5
Quest Diagnostics Nichols Institute San Juan Capistrano	0	2	0	2	1	0	2	5
Breakthrough Genomics, Breakthrough Genomics	0	9	0	2	0	0	2	4
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia	0	5	0	3	0	0	1	4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	4	0	4	0	0	0	4
Clinical Genetics and Genomics, Karolinska University Hospital	0	2	0	1	0	0	3	4
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)	0	3	0	3	0	0	1	4
Genetics and Molecular Pathology, SA Pathology	0	15	0	1	0	0	3	4
Génétique des Maladies du Développement, Hospices Civils de Lyon	0	4	0	2	0	0	2	4
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)	0	3	0	2	0	0	2	4
Kariminejad - Najmabadi Pathology & Genetics Center	0	15	0	2	0	0	2	4
Knight Diagnostic Laboratories, Oregon Health and Sciences University	0	9	0	3	0	0	1	4
Laboratory of Genetics and Molecular Cardiology, University of São Paulo	0	7	0	2	0	0	2	4
Mayo Clinic Laboratories, Mayo Clinic	0	3	0	3	1	0	1	4
Molecular Biology Laboratory, Fundació Puigvert	0	3	0	4	0	0	0	4
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	0	2	0	4	0	0	0	4
New York Genome Center	0	11	0	3	0	0	2	4
PreventionGenetics, part of Exact Sciences	0	11	0	3	1	0	0	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
Albrecht-Kossel-Institute, Medical University Rostock	0	6	0	0	1	0	2	3
ClinGen Congenital Myopathies Variant Curation Expert Panel, ClinGen	0	2	0	2	0	0	1	3
Daryl Scott Lab, Baylor College of Medicine	0	8	0	2	0	0	1	3
Department of Human Genetics, Laborarztpraxis Dres. Walther, Weindel und Kollegen	0	0	0	1	0	0	2	3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	7	0	2	0	0	2	3
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	6	0	3	0	0	0	3
Hadassah Hebrew University Medical Center	0	5	0	1	0	0	2	3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	0	10	0	3	0	0	0	3
Institute of Immunology and Genetics Kaiserslautern	0	7	0	2	0	0	1	3
Laboratory of Genetics in Ophthalmology, Institut Imagine	0	2	0	3	0	0	0	3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota	0	2	0	2	0	0	1	3
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals	0	5	0	3	0	0	0	3
Solve-RD Consortium	0	5	0	3	0	0	1	3
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill	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
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	0	2	0	2	0	0	1	3
deCODE genetics, Amgen	0	0	0	2	0	0	1	3
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	0	3	0	0	1	0	1	2
Biochemistry Laboratory of CDMU, Chengde Medical University	0	0	0	1	0	0	1	2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	0	4	0	0	0	0	2	2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	0	2	0	1	0	0	1	2
Center of Excellence for Medical Genomics, Chulalongkorn University	0	0	0	1	0	0	1	2
Division of Human Genetics, Children's Hospital of Philadelphia	0	5	0	0	0	0	2	2
Dr. Muhammad Imran Shabbir Lab, International Islamic University Islamabad	0	1	0	0	0	0	2	2
Dubai Health Genomic Medicine Center, Dubai Health	0	9	0	2	0	0	0	2
GENinCode PLC	0	6	0	1	0	0	1	2
Genetic Diseases Diagnostic Center, Koc University Hospital	0	0	0	2	0	0	0	2
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare	0	3	0	2	0	0	0	2
Genome Diagnostics Laboratory, Amsterdam University Medical Center	0	4	0	1	1	0	0	2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	0	5	0	0	1	0	1	2
Harry Perkins Institute Of Medical Research, University Of Western Australia	0	0	0	0	0	0	2	2
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino"	0	2	0	1	0	0	1	2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin	0	4	0	2	0	0	0	2
Institute of Human Genetics, Heidelberg University	0	9	0	2	0	0	0	2
Institute of Human Genetics, University of Goettingen	0	1	0	0	0	0	2	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
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	0	1	0	1	1	0	0	2
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova	0	1	0	2	0	0	0	2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	0	1	0	1	1	0	0	2
Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics	0	4	0	2	0	0	0	2
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University	0	1	0	1	0	0	1	2
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine	0	1	0	1	0	0	1	2
Leeds Institute of Medical Research, University of Leeds	0	1	0	0	0	0	2	2
Medical Molecular Genetics, National Research Centre	0	4	0	1	0	0	1	2
Molecular Genetics Laboratory, Institute for Ophthalmic Research	0	0	0	1	0	0	1	2
Molecular Genetics, Madras Diabetes Research Foundation	0	1	0	1	0	0	1	2
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire	0	1	0	1	0	0	1	2
MyeliNeuroGene Lab, McGill University Health Center Research Institute	0	3	0	2	0	0	0	2
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University	0	1	0	0	0	1	1	2
Suma Genomics	0	4	0	1	0	0	1	2
Translational Genomics Laboratory, University of Maryland School of Medicine	0	2	0	0	0	0	2	2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital	0	2	0	0	0	0	1	1
Biochemical Genetics Department, Cyprus Institute of Neurology and Genetics	0	1	0	0	0	0	1	1
Biochimie-Hormonologie, Robert Debre Hospital	0	1	0	0	0	0	1	1
Bioinformatics Unit, Institut Pasteur de Montevideo	0	1	0	1	0	0	0	1
Blueprint Genetics	0	2	0	1	0	0	0	1
CMT Laboratory, Bogazici University	0	1	0	1	0	0	0	1
CSER _CC_NCGL, University of Washington	0	2	0	0	0	0	1	1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	0	0	0	0	1	0	0	1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen	0	0	0	0	0	0	1	1
Center for Human Genetics, Inc, Center for Human Genetics, Inc	0	3	0	1	0	0	0	1
Center for Molecular Medicine, Children’s Hospital of Fudan University	0	3	0	0	0	0	1	1
Center of Genomic medicine, Geneva, University Hospital of Geneva	0	2	0	1	0	0	0	1
Center of Medical Genetics, Central South University	0	0	0	0	0	0	1	1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital	0	6	0	0	0	0	1	1
Chao Lab, Baylor College of Medicine, Texas Children's Hospital	0	0	0	1	0	0	0	1
Cirak Lab, University Hospital Cologne	0	1	0	1	0	0	0	1
Claritas Genomics	0	0	0	1	0	0	0	1
ClinGen Limb Girdle Muscular Dystrophy Variant Curation Expert Panel, ClinGen	0	2	0	1	0	0	0	1
ClinGen X-linked Inherited Retinal Disease Variant Curation Expert Panel, ClinGen	0	0	0	1	0	0	0	1
ClinVar Staff, National Center for Biotechnology Information (NCBI)	0	0	0	0	1	0	0	1
Clinical Genetics Laboratory, Region Ostergotland	0	1	0	0	0	0	1	1
Clinical Genetics, Academic Medical Center	0	1	0	1	0	0	0	1
Clinical Genomics Laboratory, Stanford Medicine	0	4	0	1	0	0	0	1
Clinical Genomics Laboratory, Washington University in St. Louis	0	5	0	1	0	0	0	1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital	0	0	0	0	0	0	1	1
Core Molecular Diagnostic Lab, McGill University Health Centre	0	0	0	1	0	0	0	1
Dasa	0	16	0	0	0	0	1	1
Department Of Endocrinology, Sanjay Gandhi Postgraduate Institute Of Medical Sciences	0	0	0	0	0	0	1	1
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences	0	0	0	1	0	0	0	1
Department of Biochemistry, Faculty of Medicine, University of Khartoum	0	2	0	0	0	0	1	1
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology	0	0	0	1	0	0	0	1
Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development	0	1	0	0	0	0	1	1
Department of Medical Genomics, Royal Prince Alfred Hospital	0	0	0	0	0	0	1	1
Department of Molecular Genetics, Istishari Arab Hospital	0	1	0	0	0	0	1	1
Department of Molecular and Human Genetics, Baylor College of Medicine	0	1	0	1	0	0	0	1
Department of Neurology, Qilu Hospital of Shandong University	0	1	0	1	0	0	0	1
Department of Ophthalmology and Visual Sciences Kyoto University	0	0	0	1	0	0	0	1
Department of Paediatric Medicine, Post Graduation Institute of Medical Education and Research	0	0	0	1	0	0	0	1
Department of Paediatrics at Addenbrookes, Cambridge University Hospitals NHS Foundation Trust (UK)	0	0	0	0	0	0	1	1
Department of Pediatric Genetics, Istanbul University - Cerrahpasa	0	1	0	0	0	0	1	1
Department of Pediatrics, Driscoll Children's Hospital	0	0	0	1	0	0	0	1
Department of Pediatrics, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology	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
Dunham Lab, University of Washington	0	1	0	0	1	0	0	1
Freeman-Sheldon Research Group, deGruyter-McKusick Institute of Health Sciences	0	0	0	1	0	0	0	1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System	0	1	0	1	0	0	1	1
Gene Discovery Core-Manton Center, Boston Children's Hospital	0	2	0	1	0	0	0	1
Genesis Genoma Lab, Genesis Genoma Lab	0	0	0	0	0	0	1	1
Genetics Department, Catlab	0	0	0	0	0	0	1	1
Genetics Department, Hospital Ramon y Cajal-IRYCIS	0	0	0	0	1	0	0	1
Genetics Department, University Hospital of Toulouse	0	0	0	1	0	0	0	1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli	0	1	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
Genome Sciences Centre, British Columbia Cancer Agency	0	0	0	1	0	0	0	1
GenomeConnect - Simons Searchlight	0	1	0	1	0	0	0	1
Genomic Medicine Lab, University of California San Francisco	0	1	0	1	0	0	0	1
Gharavi Laboratory, Columbia University	0	0	0	1	0	0	0	1
Groupe Hospitalier Pitie Salpetriere, Uf Genomique Du Developpement, Assistance Publique Hopitaux de Paris Sorbonne Université	0	0	0	1	0	0	0	1
Human Genetics Section, Sidra Medicine	0	0	0	0	0	0	1	1
IU Genetic Testing Laboratories, Indiana University School of Medicine	0	0	0	1	0	0	0	1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	0	1	0	0	1	0	0	1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital	0	4	0	0	0	0	1	1
Institute for Genomic Medicine, Nationwide Children's Hospital	0	1	0	1	0	0	0	1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn	0	4	0	1	0	0	0	1
Institute for Human Genetics, University Hospital Essen	0	1	0	0	0	0	1	1
Institute of Cellular and Molecular Medicine, Copenhagen University	0	0	0	1	0	0	0	1
Institute of Human Genetics Greifswald, Research Division, University Medicine Greifswald	0	2	0	1	0	0	0	1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn	0	8	0	1	0	0	0	1
Institute of Human Genetics, Cologne University	0	2	0	1	0	0	0	1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg	0	8	0	1	0	0	0	1
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	0	0	0	1	0	0	0	1
Institute of Human Genetics, University Hospital of Duesseldorf	0	4	0	1	0	0	0	1
Institute of Human Genetics, University of Ulm	0	0	0	1	0	0	0	1
James R Lupski Laboratory, Baylor College Of Medicine	0	1	0	1	0	0	0	1
Kamboh's Lab, University of Pittsburgh	0	0	0	0	0	0	1	1
LIPIGEN - Lipid Transport Disorders Italian Genetic Network	0	2	0	0	0	0	1	1
Lab De Baere, Eye and Developmental Genetics Lab, Ghent University	0	5	0	1	0	0	0	1
Laboratoire de Génétique Moléculaire, CHU Bordeaux	0	3	0	0	0	0	1	1
Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan	0	0	0	1	0	0	0	1
Lifecell International Pvt. Ltd	0	10	0	1	0	0	0	1
Lildballe Lab, Aarhus University Hospital	0	0	0	0	0	0	1	1
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano	0	1	0	0	0	0	1	1
Medical Genetic Diagnosis and Therapy Center, Fujian Medical University	0	1	0	0	1	0	1	1
Medical Genetics Lab, Policlinico S. Orsola.Malpighi	0	0	0	1	0	0	1	1
Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia	0	1	0	0	0	0	1	1
Medical Molecular Genetics Department, National Research Center	0	0	0	1	0	0	0	1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili	0	0	0	0	0	0	1	1
Molecular Genetics laboratory, Necker Hospital	0	0	0	1	0	0	0	1
Molecular Pathology Diagnostics Labratory, University of Iowa Hospitals & Clinics	0	0	0	1	0	0	0	1
Molecular Therapies Laboratory, Murdoch University	0	2	0	1	0	0	0	1
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health	0	0	0	0	0	0	1	1
NeuroMeGen, Hospital Clinico Santiago de Compostela	0	0	0	1	0	0	0	1
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana	0	0	0	1	0	0	0	1
PROSPAX: an integrated multimodal progression chart in spastic ataxias, Center for Neurology; Hertie-Institute for Clinical Brain Research	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
Phosphorus, Inc.	0	1	0	0	1	0	0	1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center	0	6	0	1	0	0	0	1
Precision Medicine Center, Zhengzhou University	0	2	0	1	0	0	0	1
Provincial Medical Genetics Program of British Columbia, University of British Columbia	0	0	0	0	1	0	1	1
Rare Disease Center, Seoul National University Hospital	0	0	0	1	0	0	0	1
Rare Disease Group, Clinical Genetics, Karolinska Institutet	0	0	0	1	0	0	1	1
Rare Disease Group, University of Exeter	0	0	0	1	0	0	0	1
Reproductive Health Research and Development, BGI Genomics	0	7	0	0	1	0	0	1
Service of Pediatric Gastrohepatology and Metabolic Diseases, University of Medicine of Tirana	0	0	0	1	0	0	1	1
SingHealth Duke-NUS Institute of Precision Medicine	0	1	0	0	1	0	0	1
Stanford Center for Inherited Cardiovascular Disease, Stanford University	0	0	0	0	1	0	0	1
Stankiewicz Research Laboratory, Baylor College of Medicine	0	0	0	0	0	0	1	1
Sydney Children's Hospital, SCHN	0	0	0	1	0	0	0	1
TIDEX, University of British Columbia	0	2	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
Tehran Medical Genetics Laboratory	0	0	0	1	0	0	0	1
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital	0	2	0	0	0	0	1	1
The Morris Kahn Laboratory of Human Genetics, Ben-Gurion University of the Negev	0	0	0	1	0	0	0	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
UCLA Clinical Genomics Center, UCLA	0	1	0	1	0	0	0	1
University of Iowa Renal Genetics Clinic, University of Iowa	0	0	0	0	1	0	0	1
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics	0	0	0	0	0	1	0	1
Watson Genetic Lab	0	0	0	1	0	0	0	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_000153.4(GALC):c.1685T>C (p.Ile562Thr)	rs398607	0.49249
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)	rs1050829	0.08672
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys)	rs1800309	0.04394
NM_000239.3(LYZ):c.263C>A (p.Thr88Asn)	rs1800973	0.04360
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_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu)	rs41272687	0.01532
NM_194248.3(OTOF):c.2464C>T (p.Arg822Trp)	rs80356570	0.01518
NM_000520.6(HEXA):c.672+30T>G	rs117160567	0.01494
NM_001365536.1(SCN9A):c.2827A>C (p.Met943Leu)	rs12478318	0.01480
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_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_000250.2(MPO):c.995C>T (p.Ala332Val)	rs28730837	0.01134
NM_001126108.2(SLC12A3):c.2182G>A (p.Ala728Thr)	rs36049418	0.01075
NM_006269.2(RP1):c.1118C>T (p.Thr373Ile)	rs77775126	0.01007
NM_000293.3(PHKB):c.555G>T (p.Met185Ile)	rs56257827	0.00994
NM_032737.4(LMNB2):c.704G>A (p.Arg235Gln)	rs121912497	0.00981
NM_000222.3(KIT):c.67+4G>A	rs72550820	0.00969
NM_000171.4(GLRA1):c.1108G>A (p.Gly370Ser)	rs116474260	0.00908
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	0.00473
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	0.00380
NM_000384.3(APOB):c.3383G>A (p.Arg1128His)	rs12713843	0.00376
NM_000152.5(GAA):c.447G>A (p.Thr149=)	rs2289536	0.00362
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly)	rs139548132	0.00360
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)	rs112029032	0.00346
NM_016038.4(SBDS):c.258+2T>C	rs113993993	0.00337
NM_000070.3(CAPN3):c.1746-20C>G	rs201892814	0.00312
NM_001692.4(ATP6V1B1):c.1394G>A (p.Arg465His)	rs142905621	0.00310
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_006005.3(WFS1):c.577A>C (p.Lys193Gln)	rs41264699	0.00267
NM_000037.4(ANK1):c.5097-34C>T	rs185434561	0.00261
NM_000152.5(GAA):c.2481+16G>A	rs41292408	0.00240
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_016729.3(FOLR1):c.493+2T>C	rs144637717	0.00175
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_000329.3(RPE65):c.394G>A (p.Ala132Thr)	rs61752878	0.00147
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_018136.5(ASPM):c.9539A>C (p.Gln3180Pro)	rs193251130	0.00130
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys)	rs150343959	0.00129
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_001080483.3(MYMK):c.271C>A (p.Pro91Thr)	rs137868995	0.00116
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile)	rs201162411	0.00116
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_007254.4(PNKP):c.1029+2T>C	rs199919568	0.00111
NM_016038.4(SBDS):c.184A>T (p.Lys62Ter)	rs120074160	0.00105
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_000169.3(GLA):c.8T>C (p.Leu3Pro)	rs150547672	0.00098
NM_006348.5(COG5):c.298C>T (p.Leu100Phe)	rs150351852	0.00096
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)	rs121918054	0.00093
NM_000455.5(STK11):c.894C>A (p.Phe298Leu)	rs199681533	0.00092
NM_000152.5(GAA):c.2668G>C (p.Val890Leu)	rs377286472	0.00089
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter)	rs121965019	0.00086
NM_000048.4(ASL):c.392C>T (p.Thr131Met)	rs143793815	0.00083
NM_007215.4(POLG2):c.1105A>G (p.Arg369Gly)	rs201936720	0.00082
NM_000748.3(CHRNB2):c.1432T>C (p.Phe478Leu)	rs79137415	0.00081
NM_006420.3(ARFGEF2):c.625G>A (p.Glu209Lys)	rs28937880	0.00079
NM_025184.4(EFHC2):c.404G>A (p.Arg135Gln)	rs201560745	0.00079
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met)	rs112084407	0.00072
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_002203.4(ITGA2):c.1594A>C (p.Ile532Leu)	rs199808499	0.00069
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr)	rs199504211	0.00066
NM_000543.5(SMPD1):c.689G>A (p.Arg230His)	rs141387770	0.00064
NM_006208.3(ENPP1):c.2462G>A (p.Arg821His)	rs367759638	0.00062
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)	rs549794342	0.00061
NM_024753.5(TTC21B):c.2258C>T (p.Pro753Leu)	rs539769126	0.00060
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_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)	rs141138948	0.00048
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)	rs199605265	0.00046
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys)	rs183105855	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_004773.4(ZNHIT3):c.92C>T (p.Ser31Leu)	rs148890852	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.257C>G (p.Pro86Arg)	rs2229222	0.00038
NM_000152.5(GAA):c.752C>T (p.Ser251Leu)	rs200856561	0.00038
NM_000152.5(GAA):c.2109C>T (p.Tyr703=)	rs150728610	0.00035
NM_003906.5(MCM3AP):c.3814G>A (p.Val1272Met)	rs779248881	0.00035
NM_000152.5(GAA):c.2652G>A (p.Thr884=)	rs143642048	0.00034
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_174936.4(PCSK9):c.1445A>G (p.Glu482Gly)	rs141995194	0.00031
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys)	rs80338671	0.00029
NM_000350.3(ABCA4):c.5461-10T>C	rs1800728	0.00029
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)	rs5742904	0.00028
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_153240.5(NPHP3):c.2694-2_2694-1del	rs751527253	0.00026
NM_175914.5(HNF4A):c.439G>A (p.Val147Ile)	rs142204928	0.00025
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln)	rs121912707	0.00023
NM_000237.3(LPL):c.644G>A (p.Gly215Glu)	rs118204057	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_000232.5(SGCB):c.341C>T (p.Ser114Phe)	rs150518260	0.00019
NM_005530.3(IDH3A):c.938T>C (p.Met313Thr)	rs149862950	0.00018
NM_003560.4(PLA2G6):c.386T>C (p.Leu129Pro)	rs374746113	0.00017
NM_000157.4(GBA1):c.882T>G (p.His294Gln)	rs367968666	0.00016
NM_000492.4(CFTR):c.489+3A>G	rs377729736	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_000152.5(GAA):c.1593C>T (p.Asp531=)	rs138732016	0.00014
NM_005912.3(MC4R):c.757G>A (p.Val253Ile)	rs187152753	0.00014
NM_000070.3(CAPN3):c.*534T>C	rs772498665	0.00013
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.651C>G (p.Phe217Leu)	rs776826330	0.00012
NM_018116.4(MSTO1):c.706G>C (p.Asp236His)	rs753488873	0.00012
NM_019109.5(ALG1):c.1187+3A>G	rs369160589	0.00012
NM_000195.5(HPS1):c.1846G>A (p.Glu616Lys)	rs775570414	0.00011
NM_001277115.2(DNAH11):c.1915C>T (p.Gln639Ter)	rs200073714	0.00011
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn)	rs79783591	0.00011
NM_018451.5(CPAP):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_003322.6(TULP1):c.1496-6C>A	rs281865171	0.00010
NM_018082.6(POLR3B):c.2084-6A>G	rs747912710	0.00010
NM_000169.3(GLA):c.865A>G (p.Ile289Val)	rs140329381	0.00009
NM_001164508.2(NEB):c.11333T>C (p.Ile3778Thr)	rs200270156	0.00009
NM_001164508.2(NEB):c.22590+2T>C	rs200449517	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_003560.4(PLA2G6):c.2129G>A (p.Arg710His)	rs147455037	0.00009
NM_003742.4(ABCB11):c.1460G>A (p.Arg487His)	rs188824058	0.00009
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu)	rs199826737	0.00009
NM_016038.4(SBDS):c.388G>A (p.Val130Met)	rs201070132	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_000097.7(CPOX):c.1210A>G (p.Lys404Glu)	rs121917868	0.00008
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.711G>A (p.Ala237=)	rs368328598	0.00008
NM_000152.5(GAA):c.853C>T (p.Pro285Ser)	rs886042086	0.00008
NM_000251.3(MSH2):c.820A>G (p.Ile274Val)	rs371944271	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_006767.4(LZTR1):c.1943-256C>T	rs761685529	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_177550.5(SLC13A5):c.655G>A (p.Gly219Arg)	rs144332569	0.00008
NM_000152.5(GAA):c.1048G>A (p.Val350Met)	rs200412003	0.00007
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro)	rs199801029	0.00007
NM_000458.4(HNF1B):c.660T>C (p.Asp220=)	rs779375959	0.00007
NM_000527.5(LDLR):c.1085A>C (p.Asp362Ala)	rs138315511	0.00007
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr)	rs749909863	0.00007
NM_001277115.2(DNAH11):c.4095+2C>T	rs532007878	0.00007
NM_001849.4(COL6A2):c.1970-9G>A	rs747900252	0.00007
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp)	rs104894178	0.00007
NM_018122.5(DARS2):c.796C>T (p.Arg266Ter)	rs149035108	0.00007
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg)	rs111033264	0.00007
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.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.510C>T (p.Asp170=)	rs564758226	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_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_001277115.2(DNAH11):c.3470T>G (p.Leu1157Arg)	rs117830543	0.00006
NM_001374504.1(TMPRSS6):c.1534G>A (p.Asp512Asn)	rs137853120	0.00006
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter)	rs121908680	0.00006
NM_018122.5(DARS2):c.396+2T>G	rs759123043	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.605+1G>A	rs372949028	0.00006
NM_152906.7(TANGO2):c.94C>T (p.Arg32Ter)	rs199801224	0.00006
NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp)	rs539192853	0.00006
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met)	rs200646556	0.00005
NM_000135.4(FANCA):c.2T>C (p.Met1Thr)	rs769479800	0.00005
NM_000152.5(GAA):c.655G>A (p.Gly219Arg)	rs370950728	0.00005
NM_000156.6(GAMT):c.59G>C (p.Trp20Ser)	rs80338734	0.00005
NM_000203.5(IDUA):c.923T>C (p.Leu308Pro)	rs752337969	0.00005
NM_000303.3(PMM2):c.691G>A (p.Val231Met)	rs80338707	0.00005
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser)	rs137852314	0.00005
NM_000492.4(CFTR):c.3469-20T>C	rs373002889	0.00005
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser)	rs544453230	0.00005
NM_000540.3(RYR1):c.3442G>A (p.Val1148Ile)	rs201174268	0.00005
NM_001163435.3(TBCK):c.2060-2A>G	rs62321379	0.00005
NM_001163435.3(TBCK):c.2159C>T (p.Ser720Phe)	rs370050799	0.00005
NM_001163435.3(TBCK):c.382-2A>G	rs903296221	0.00005
NM_003560.4(PLA2G6):c.1495G>A (p.Ala499Thr)	rs141045127	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_206926.2(SELENON):c.1A>G (p.Met1Val)	rs121908184	0.00005
NR_023343.3(RNU4ATAC):n.48G>A	rs863225422	0.00005
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.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_000169.3(GLA):c.1184G>C (p.Gly395Ala)	rs375661583	0.00004
NM_000169.3(GLA):c.644A>G (p.Asn215Ser)	rs28935197	0.00004
NM_000195.5(HPS1):c.1096C>A (p.Pro366Thr)	rs138771756	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.1444G>A (p.Asp482Asn)	rs139624145	0.00004
NM_000531.6(OTC):c.85C>G (p.Gln29Glu)	rs752916728	0.00004
NM_001164508.2(NEB):c.21417+3A>G	rs148950085	0.00004
NM_001277115.2(DNAH11):c.12933+1G>A	rs371022970	0.00004
NM_001277115.2(DNAH11):c.13288G>A (p.Gly4430Arg)	rs1275074212	0.00004
NM_003560.4(PLA2G6):c.1058C>T (p.Pro353Leu)	rs587784326	0.00004
NM_003560.4(PLA2G6):c.2221C>T (p.Arg741Trp)	rs530348521	0.00004
NM_004211.5(SLC6A5):c.2114A>G (p.Tyr705Cys)	rs143918578	0.00004
NM_004562.3(PRKN):c.1000C>T (p.Arg334Cys)	rs199657839	0.00004
NM_016955.4(SEPSECS):c.846G>A (p.Leu282=)	rs146539065	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_018122.5(DARS2):c.536G>A (p.Arg179His)	rs121918210	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_025114.4(CEP290):c.4438-3del	rs747323414	0.00004
NM_152443.3(RDH12):c.524C>T (p.Ser175Leu)	rs116733939	0.00004
NM_152564.5(VPS13B):c.6125T>A (p.Leu2042Ter)	rs371364257	0.00004
NM_177550.5(SLC13A5):c.680C>T (p.Thr227Met)	rs587777577	0.00004
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys)	rs62635654	0.00004
NM_206926.2(SELENON):c.1472T>G (p.Met491Arg)	rs761631813	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.1309C>T (p.Arg437Cys)	rs770610356	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.2151C>T (p.His717=)	rs758725073	0.00003
NM_000152.5(GAA):c.2173C>T (p.Arg725Trp)	rs121907938	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_000158.4(GBE1):c.70del (p.Asp24fs)	rs1407149518	0.00003
NM_000158.4(GBE1):c.760A>G (p.Thr254Ala)	rs770427750	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_000382.3(ALDH3A2):c.943C>T (p.Pro315Ser)	rs72547571	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.232C>T (p.Arg78Cys)	rs370860696	0.00003
NM_000527.5(LDLR):c.343C>T (p.Arg115Cys)	rs774723292	0.00003
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys)	rs768563000	0.00003
NM_000527.5(LDLR):c.986G>A (p.Cys329Tyr)	rs761954844	0.00003
NM_000543.5(SMPD1):c.730G>A (p.Gly244Arg)	rs120074122	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_001191061.2(SLC25A22):c.617C>T (p.Pro206Leu)	rs121918334	0.00003
NM_001308093.3(GATA4):c.1276G>A (p.Asp426Asn)	rs56208331	0.00003
NM_003560.4(PLA2G6):c.116G>A (p.Arg39Gln)	rs144910769	0.00003
NM_003560.4(PLA2G6):c.1187-1G>A	rs1477656610	0.00003
NM_003560.4(PLA2G6):c.1547C>T (p.Ala516Val)	rs151108668	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_003742.4(ABCB11):c.1160G>A (p.Arg387His)	rs372784355	0.00003
NM_005327.7(HADH):c.706C>T (p.Arg236Ter)	rs375717077	0.00003
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter)	rs104893950	0.00003
NM_005912.3(MC4R):c.449C>T (p.Thr150Ile)	rs766665118	0.00003
NM_006295.3(VARS1):c.3203C>T (p.Thr1068Met)	rs777665186	0.00003
NM_007294.4(BRCA1):c.2447A>G (p.His816Arg)	rs80357108	0.00003
NM_014714.4(IFT140):c.2611C>T (p.Arg871Cys)	rs767213195	0.00003
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser)	rs764571295	0.00003
NM_018122.5(DARS2):c.172C>G (p.Arg58Gly)	rs375700548	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_152443.3(RDH12):c.164C>T (p.Thr55Met)	rs766631462	0.00003
NM_175914.5(HNF4A):c.791A>G (p.Tyr264Cys)	rs748714111	0.00003
NM_177550.5(SLC13A5):c.997C>T (p.Arg333Ter)	rs773770609	0.00003
NM_206926.2(SELENON):c.700C>T (p.Arg234Cys)	rs368074297	0.00003
NM_206926.2(SELENON):c.908+1G>A	rs908682527	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.1222A>G (p.Met408Val)	rs560575383	0.00002
NM_000152.5(GAA):c.1316T>A (p.Met439Lys)	rs747610090	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.1856G>A (p.Ser619Asn)	rs753269119	0.00002
NM_000152.5(GAA):c.1912G>T (p.Gly638Trp)	rs757617999	0.00002
NM_000152.5(GAA):c.2014C>T (p.Arg672Trp)	rs757111744	0.00002
NM_000152.5(GAA):c.2015G>A (p.Arg672Gln)	rs778418246	0.00002
NM_000152.5(GAA):c.2190-4G>A	rs759974338	0.00002
NM_000152.5(GAA):c.971C>T (p.Pro324Leu)	rs750030887	0.00002
NM_000158.4(GBE1):c.1063C>T (p.Arg355Cys)	rs780431086	0.00002
NM_000158.4(GBE1):c.1468del (p.Leu490fs)	rs774465102	0.00002
NM_000158.4(GBE1):c.1694G>A (p.Arg565Gln)	rs774619760	0.00002
NM_000158.4(GBE1):c.671T>C (p.Leu224Pro)	rs137852886	0.00002
NM_000162.5(GCK):c.370G>A (p.Asp124Asn)	rs759072800	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_000169.3(GLA):c.868A>C (p.Met290Leu)	rs375538532	0.00002
NM_000195.5(HPS1):c.1857+2T>C	rs374689398	0.00002
NM_000195.5(HPS1):c.398+2T>C	rs1486224265	0.00002
NM_000195.5(HPS1):c.716T>C (p.Leu239Pro)	rs281865080	0.00002
NM_000203.5(IDUA):c.1163C>G (p.Thr388Arg)	rs794727896	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_000458.4(HNF1B):c.100C>T (p.Leu34=)	rs373201245	0.00002
NM_000527.5(LDLR):c.1510A>G (p.Lys504Glu)	rs730882103	0.00002
NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys)	rs185098634	0.00002
NM_000527.5(LDLR):c.949G>A (p.Glu317Lys)	rs746834464	0.00002
NM_000545.8(HNF1A):c.1745A>G (p.His582Arg)	rs193922589	0.00002
NM_001142800.2(EYS):c.32dup (p.Met12fs)	rs779372264	0.00002
NM_001205254.2(OCLN):c.1037+1G>A	rs748442113	0.00002
NM_001277115.2(DNAH11):c.6527C>T (p.Ala2176Val)	rs770279400	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_003560.4(PLA2G6):c.680C>T (p.Ala227Val)	rs764957976	0.00002
NM_003742.4(ABCB11):c.3268C>T (p.Arg1090Ter)	rs72549396	0.00002
NM_003742.4(ABCB11):c.3669G>C (p.Glu1223Asp)	rs199649780	0.00002
NM_003742.4(ABCB11):c.3676C>T (p.Arg1226Cys)	rs772241929	0.00002
NM_003742.4(ABCB11):c.76+1G>A	rs1413569310	0.00002
NM_004092.4(ECHS1):c.72G>A (p.Trp24Ter)	rs776926045	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_006831.3(CLP1):c.419G>A (p.Arg140His)	rs587777616	0.00002
NM_007055.4(POLR3A):c.2119C>T (p.Gln707Ter)	rs780839834	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_018122.5(DARS2):c.788G>A (p.Arg263Gln)	rs121918207	0.00002
NM_022081.6(HPS4):c.1546C>T (p.Gln516Ter)	rs372833027	0.00002
NM_022081.6(HPS4):c.949_972dup (p.Ala317_Glu324dup)	rs281865164	0.00002
NR_023343.3(RNU4ATAC):n.118T>C	rs863225423	0.00002
NM_000020.3(ACVRL1):c.1135G>A (p.Glu379Lys)	rs1131691686	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.146G>A (p.Arg49His)	rs863224958	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_000070.3(CAPN3):c.509A>G (p.Tyr170Cys)	rs1555420468	0.00001
NM_000070.3(CAPN3):c.533T>C (p.Ile178Thr)	rs794727615	0.00001
NM_000083.3(CLCN1):c.1063G>A (p.Gly355Arg)	rs767000881	0.00001
NM_000083.3(CLCN1):c.1471+1G>A	rs375596425	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.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.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.1942G>A (p.Gly648Ser)	rs536906561	0.00001
NM_000152.5(GAA):c.1958C>A (p.Thr653Asn)	rs763456921	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.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.261G>A (p.Trp87Ter)	rs761115975	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_000156.6(GAMT):c.506G>A (p.Cys169Tyr)	rs121909272	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.431T>G (p.Leu144Arg)	rs794727708	0.00001
NM_000157.4(GBA1):c.476G>A (p.Arg159Gln)	rs79653797	0.00001
NM_000158.4(GBE1):c.1229T>G (p.Ile410Arg)	rs771405370	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.1693C>T (p.Arg565Trp)	rs552094593	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.1934+2T>C	rs752625236	0.00001
NM_000158.4(GBE1):c.2081T>A (p.Ile694Asn)	rs1209123501	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.895G>T (p.Gly299Ter)	rs779475367	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_000188.3(HK1):c.2539G>A (p.Glu847Lys)	rs777849213	0.00001
NM_000195.5(HPS1):c.1807C>T (p.Gln603Ter)	rs886077189	0.00001
NM_000195.5(HPS1):c.1858-1G>A	rs758797992	0.00001
NM_000195.5(HPS1):c.398+5G>A	rs281865077	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.1469T>C (p.Leu490Pro)	rs121965027	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_000231.3(SGCG):c.848G>A (p.Cys283Tyr)	rs104894422	0.00001
NM_000234.3(LIG1):c.2311C>T (p.Arg771Trp)	rs121434561	0.00001
NM_000257.4(MYH7):c.2080C>T (p.Arg694Cys)	rs727504240	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_000350.3(ABCA4):c.4978C>T (p.Pro1660Ser)	rs1211325812	0.00001
NM_000352.6(ABCC8):c.1532T>C (p.Leu511Pro)	rs797045206	0.00001
NM_000352.6(ABCC8):c.1672-20A>G	rs931436550	0.00001
NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln)	rs72559734	0.00001
NM_000352.6(ABCC8):c.2521C>T (p.Arg841Ter)	rs1484689392	0.00001
NM_000352.6(ABCC8):c.2556+1G>A	rs749271190	0.00001
NM_000352.6(ABCC8):c.2921-9G>A	rs757171524	0.00001
NM_000352.6(ABCC8):c.331G>A (p.Gly111Arg)	rs761749884	0.00001
NM_000352.6(ABCC8):c.3400-1G>A	rs576684889	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.4478G>A (p.Arg1493Gln)	rs746480424	0.00001
NM_000352.6(ABCC8):c.536_539del (p.Leu178_Tyr179insTer)	rs770664202	0.00001
NM_000352.6(ABCC8):c.946G>A (p.Gly316Arg)	rs1201126343	0.00001
NM_000384.3(APOB):c.9175C>T (p.Arg3059Cys)	rs146377316	0.00001
NM_000458.4(HNF1B):c.345-11T>G	rs200782591	0.00001
NM_000466.3(PEX1):c.1099del (p.Gln367fs)	rs1403870448	0.00001
NM_000487.6(ARSA):c.827C>T (p.Thr276Met)	rs74315472	0.00001
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)	rs121908043	0.00001
NM_000527.5(LDLR):c.1217G>A (p.Arg406Gln)	rs552422789	0.00001
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)	rs28942079	0.00001
NM_000527.5(LDLR):c.1529C>T (p.Thr510Met)	rs755154048	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.241C>T (p.Arg81Cys)	rs730882078	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.796G>A (p.Asp266Asn)	rs875989907	0.00001
NM_000527.5(LDLR):c.912C>G (p.Asp304Glu)	rs875989909	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_000545.8(HNF1A):c.340C>T (p.Arg114Cys)	rs774996577	0.00001
NM_001098272.3(HMGCS1):c.209T>C (p.Met70Thr)	rs1255293139	0.00001
NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg)	rs201049092	0.00001
NM_001163435.3(TBCK):c.1220+1G>A	rs760715215	0.00001
NM_001163435.3(TBCK):c.1880T>G (p.Phe627Cys)	rs1579198426	0.00001
NM_001163435.3(TBCK):c.247C>T (p.Arg83Ter)	rs763057505	0.00001
NM_001163435.3(TBCK):c.381+1G>A	rs1762560983	0.00001
NM_001163435.3(TBCK):c.389T>A (p.Ile130Asn)	rs1213724402	0.00001
NM_001163435.3(TBCK):c.456-2A>G	rs780527809	0.00001
NM_001164508.2(NEB):c.13059+5G>A	rs1216016300	0.00001
NM_001164508.2(NEB):c.13130_13131del (p.Met4377fs)	rs1490309743	0.00001
NM_001164508.2(NEB):c.1493A>G (p.Asp498Gly)	rs1255744452	0.00001
NM_001164508.2(NEB):c.19101+5G>A	rs374929094	0.00001
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=)	rs201553266	0.00001
NM_001164508.2(NEB):c.24176_24179dup (p.Lys8061fs)	rs2061721973	0.00001
NM_001164508.2(NEB):c.25330C>T (p.Gln8444Ter)	rs778104284	0.00001
NM_001164508.2(NEB):c.294+1G>A	rs759956258	0.00001
NM_001164508.2(NEB):c.8381A>T (p.Tyr2794Phe)	rs750548574	0.00001
NM_001277115.2(DNAH11):c.2966G>A (p.Arg989Gln)	rs1178187217	0.00001
NM_001277115.2(DNAH11):c.4879C>T (p.Arg1627Cys)	rs727502967	0.00001
NM_001277115.2(DNAH11):c.5695A>G (p.Lys1899Glu)	rs1190944498	0.00001
NM_001277115.2(DNAH11):c.6983+1G>A	rs771953930	0.00001
NM_001277115.2(DNAH11):c.7772C>T (p.Pro2591Leu)	rs387907258	0.00001
NM_001277115.2(DNAH11):c.8932C>T (p.Gln2978Ter)	rs772228900	0.00001
NM_001278512.2(AP3B2):c.2978_2979del (p.Pro993fs)	rs1347618037	0.00001
NM_001352754.2(ARMC9):c.51+5G>T	rs1114167447	0.00001
NM_001354768.3(NRL):c.713G>T (p.Ter238Leu)	rs754136527	0.00001
NM_001358921.2(COQ2):c.253+4A>T	rs907149421	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.158-2A>T	rs1304228309	0.00001
NM_001384140.1(PCDH15):c.1583T>A (p.Val528Asp)	rs267606932	0.00001
NM_001384140.1(PCDH15):c.1997+1G>A	rs763797356	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_001673.5(ASNS):c.1210C>T (p.Arg404Cys)	rs375234125	0.00001
NM_001673.5(ASNS):c.706del (p.Arg236fs)	rs1791584683	0.00001
NM_003482.4(KMT2D):c.6638G>A (p.Gly2213Asp)	rs368767696	0.00001
NM_003560.4(PLA2G6):c.1097T>A (p.Ile366Asn)	rs778225931	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.1592-2A>C	rs1465629909	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.1670C>T (p.Ser557Leu)	rs769047790	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.2251G>A (p.Glu751Lys)	rs1296348337	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_003742.4(ABCB11):c.1259T>C (p.Ile420Thr)	rs1693919240	0.00001
NM_003742.4(ABCB11):c.1535T>C (p.Ile512Thr)	rs886044202	0.00001
NM_003742.4(ABCB11):c.154C>T (p.Arg52Trp)	rs763526610	0.00001
NM_003742.4(ABCB11):c.1568C>G (p.Ala523Gly)	rs769652427	0.00001
NM_003742.4(ABCB11):c.2095T>C (p.Ser699Pro)	rs867525294	0.00001
NM_003742.4(ABCB11):c.2316T>G (p.Tyr772Ter)	rs1371940395	0.00001
NM_003742.4(ABCB11):c.251G>A (p.Gly84Asp)	rs762571776	0.00001
NM_003742.4(ABCB11):c.2617G>A (p.Gly873Ser)	rs559849564	0.00001
NM_003742.4(ABCB11):c.2629G>A (p.Gly877Arg)	rs745557569	0.00001
NM_003742.4(ABCB11):c.403G>A (p.Glu135Lys)	rs752992432	0.00001
NM_003742.4(ABCB11):c.936G>T (p.Gln312His)	rs770497192	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_004928.3(CFAP410):c.143+3A>T	rs970527998	0.00001
NM_005670.4(EPM2A):c.302-1G>C	rs369463720	0.00001
NM_005670.4(EPM2A):c.322C>T (p.Arg108Cys)	rs137852915	0.00001
NM_005670.4(EPM2A):c.512G>A (p.Arg171His)	rs137852916	0.00001
NM_005670.4(EPM2A):c.94T>G (p.Trp32Gly)	rs104893955	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_006204.4(PDE6C):c.1004+1G>A	rs958171434	0.00001
NM_006295.3(VARS1):c.3355C>T (p.Arg1119Cys)	rs149378938	0.00001
NM_006612.6(KIF1C):c.2005C>T (p.Arg669Ter)	rs1456471745	0.00001
NM_007055.4(POLR3A):c.1048+5G>T	rs890755853	0.00001
NM_007055.4(POLR3A):c.1369G>A (p.Gly457Arg)	rs768880752	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_013382.7(POMT2):c.1248C>G (p.His416Gln)	rs1566649375	0.00001
NM_014140.4(SMARCAL1):c.2290C>T (p.Arg764Trp)	rs1480919035	0.00001
NM_014738.6(TMEM94):c.1256_1257del (p.Gln419fs)	rs2052160365	0.00001
NM_014738.6(TMEM94):c.2734C>T (p.Arg912Ter)	rs557746506	0.00001
NM_015474.4(SAMHD1):c.490C>T (p.Arg164Ter)	rs267607027	0.00001
NM_016038.4(SBDS):c.523C>T (p.Arg175Trp)	rs774976459	0.00001
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys)	rs746753722	0.00001
NM_017946.4(FKBP14):c.428C>G (p.Ser143Ter)	rs753355121	0.00001
NM_018082.6(POLR3B):c.1857-2A>C	rs267608686	0.00001
NM_018082.6(POLR3B):c.1999G>A (p.Val667Met)	rs756536922	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_018082.6(POLR3B):c.986G>A (p.Arg329Gln)	rs1337382297	0.00001
NM_018122.5(DARS2):c.1441G>A (p.Val481Met)	rs748312411	0.00001
NM_018122.5(DARS2):c.1825C>T (p.Arg609Trp)	rs200670286	0.00001
NM_018122.5(DARS2):c.1837C>T (p.Leu613Phe)	rs121918212	0.00001
NM_018122.5(DARS2):c.1877T>A (p.Leu626Gln)	rs121918213	0.00001
NM_018122.5(DARS2):c.259G>A (p.Asp87Asn)	rs1209550754	0.00001
NM_018122.5(DARS2):c.562C>T (p.Arg188Ter)	rs751929342	0.00001
NM_018122.5(DARS2):c.563G>A (p.Arg188Gln)	rs182811621	0.00001
NM_018122.5(DARS2):c.761G>A (p.Gly254Asp)	rs746694330	0.00001
NM_019892.6(INPP5E):c.1021G>A (p.Gly341Ser)	rs780882740	0.00001
NM_020401.4(NUP107):c.303G>A (p.Met101Ile)	rs730882216	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_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_175914.5(HNF4A):c.925C>T (p.Arg309Cys)	rs193922479	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.1460C>T (p.Pro487Leu)	rs779336736	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_182931.3(KMT2E):c.2452C>T (p.Arg818Ter)	rs1584802744	0.00001
NM_201525.4(ADGRG1):c.367C>T (p.Gln123Ter)	rs1047016803	0.00001
NM_206926.2(SELENON):c.1107dup (p.Lys370fs)	rs745715484	0.00001
NM_206926.2(SELENON):c.1256G>C (p.Trp419Ser)	rs121908186	0.00001
NM_206926.2(SELENON):c.1294C>T (p.Arg432Trp)	rs752156505	0.00001
NM_206926.2(SELENON):c.1303C>T (p.Arg435Trp)	rs756927098	0.00001
NM_206926.2(SELENON):c.1367G>A (p.Trp456Ter)	rs960468382	0.00001
NM_206926.2(SELENON):c.1399-1G>A	rs750138587	0.00001
NM_206926.2(SELENON):c.379C>T (p.Arg127Ter)	rs778603129	0.00001
NM_206926.2(SELENON):c.463C>T (p.Arg155Ter)	rs775713184	0.00001
NM_206926.2(SELENON):c.770G>A (p.Arg257Gln)	rs199564797	0.00001
NM_206926.2(SELENON):c.771-2A>G	rs1176143542	0.00001
NC_000011.10:g.47347065C>T	rs864622197
NM_000020.3(ACVRL1):c.1231C>T (p.Arg411Trp)	rs121909287
NM_000022.4(ADA):c.956_960del (p.Glu319fs)	rs771266745
NM_000023.4(SGCA):c.246C>A (p.Ser82Arg)	rs1598265282
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter)	rs128624221
NM_000049.4(ASPA):c.530T>C (p.Ile177Thr)	rs1597438977
NM_000051.4(ATM):c.9103C>T (p.Leu3035Phe)	rs866769874
NM_000070.3(CAPN3):c.1030-1G>A	rs1555421263
NM_000070.3(CAPN3):c.1333G>A (p.Gly445Arg)	rs773827877
NM_000070.3(CAPN3):c.1897C>T (p.Gln633Ter)	rs1595844413
NM_000070.3(CAPN3):c.2212C>T (p.Gln738Ter)	rs1595847257
NM_000070.3(CAPN3):c.2380+2T>G	rs761935462
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.1626C>G (p.Pro542=)	rs947585663
NM_000152.5(GAA):c.1704C>G (p.His568Gln)	rs776882059
NM_000152.5(GAA):c.1802C>G (p.Ser601Trp)	rs374470794
NM_000152.5(GAA):c.1804A>G (p.Thr602Ala)	rs781484283
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.281_282del (p.Pro94fs)	rs1057516503
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_000152.5(GAA):c.854C>G (p.Pro285Arg)	rs764622267
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_000157.4(GBA1):c.509G>T (p.Arg170Leu)	rs80356763
NM_000157.4(GBA1):c.751T>C (p.Tyr251His)	rs121908300
NM_000158.4(GBE1):c.1336-1G>A	rs375253942
NM_000158.4(GBE1):c.1484T>C (p.Met495Thr)	rs1456579860
NM_000158.4(GBE1):c.1543C>T (p.Arg515Cys)	rs80338672
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.956A>G (p.His319Arg)	rs1490328834
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.1055C>G (p.Ala352Gly)	rs869312162
NM_000169.3(GLA):c.1102G>C (p.Ala368Pro)	rs144994244
NM_000180.4(GUCY2D):c.2521G>T (p.Glu841Ter)	rs1341592819
NM_000195.5(HPS1):c.1189del (p.Gln397fs)	rs281865084
NM_000195.5(HPS1):c.1513C>T (p.Gln505Ter)	rs769446880
NM_000195.5(HPS1):c.1632C>A (p.Phe544Leu)	rs748106098
NM_000195.5(HPS1):c.1932del (p.Tyr645fs)	rs1239621485
NM_000195.5(HPS1):c.233_242del (p.Asn78fs)	rs773323079
NM_000195.5(HPS1):c.962del (p.Gly321fs)	rs281865081
NM_000195.5(HPS1):c.972dup (p.Met325fs)	rs281865082
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.793-9C>T	rs375798875
NM_000232.5(SGCB):c.278G>C (p.Gly93Ala)	rs1018529334
NM_000252.3(MTM1):c.1210G>A (p.Glu404Lys)	rs781933660
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs)	rs606231189
NM_000298.6(PKLR):c.375+10G>T	rs8177971
NM_000302.4(PLOD1):c.1651-2A>C	rs565513365
NM_000352.6(ABCC8):c.148+1G>A	rs766312766
NM_000352.6(ABCC8):c.1879del (p.His627fs)	rs764613146
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.2693G>A (p.Trp898Ter)	rs1382448285
NM_000352.6(ABCC8):c.3130_3149del (p.Thr1044fs)	rs886041392
NM_000352.6(ABCC8):c.4055G>C (p.Arg1352Pro)	rs28936370
NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del)	rs151344624
NM_000352.6(ABCC8):c.4322del (p.Pro1441fs)	rs758844607
NM_000352.6(ABCC8):c.4412-13G>A	rs1008906426
NM_000352.6(ABCC8):c.579+2T>A	rs1449198328
NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter)	rs118203542
NM_000426.4(LAMA2):c.2556del (p.Phe852fs)	rs750731624
NM_000435.3(NOTCH3):c.6405_6406del (p.Leu2137fs)	rs2512609739
NM_000458.4(HNF1B):c.1006C>T (p.His336Tyr)	rs138986885
NM_000458.4(HNF1B):c.1024T>C (p.Ser342Pro)	rs1282596664
NM_000458.4(HNF1B):c.202G>C (p.Gly68Arg)	rs767576616
NM_000458.4(HNF1B):c.526C>T (p.Gln176Ter)	rs2511828138
NM_000458.4(HNF1B):c.949G>T (p.Ala317Ser)	rs193922492
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	rs12710260
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)	rs879254787
NM_000527.5(LDLR):c.1196C>A (p.Ala399Asp)	rs875989918
NM_000527.5(LDLR):c.1252G>A (p.Glu418Lys)	rs869320651
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)	rs373646964
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)	rs28942080
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.2343G>T (p.Glu781Asp)	rs761683856
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.523G>A (p.Asp175Asn)	rs121908033
NM_000527.5(LDLR):c.590G>T (p.Cys197Phe)	rs376459828
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)	rs2228671
NM_000527.5(LDLR):c.887G>A (p.Cys296Tyr)	rs879254707
NM_000539.3(RHO):c.568G>C (p.Asp190His)	rs104893779
NM_000540.3(RYR1):c.13892A>C (p.Tyr4631Ser)	rs1568593922
NM_000540.3(RYR1):c.8888T>C (p.Leu2963Pro)	rs756870293
NM_000543.5(SMPD1):c.151_154del (p.Asp51fs)	rs1057516949
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg)	rs202081954
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_000545.8(HNF1A):c.872C>G (p.Pro291Arg)	rs193922606
NM_000548.5(TSC2):c.5094C>A (p.Ser1698Arg)	rs45514196
NM_000642.3(AGL):c.1384del (p.Trp461_Val462insTer)	rs786204678
NM_000810.4(GABRA5):c.902C>T (p.Thr301Met)	rs1595438268
NM_000834.5(GRIN2B):c.1672G>A (p.Val558Ile)	rs1057519004
NM_000834.5(GRIN2B):c.2065G>A (p.Gly689Ser)	rs869312868
NM_001011.4(RPS7):c.-19+1G>A	rs1064796859
NM_001029.5(RPS26):c.3+1G>T	rs148622862
NM_001031710.3(KLHL7):c.422T>C (p.Val141Ala)	rs1554286384
NM_001032382.2(PQBP1):c.586C>T (p.Arg196Ter)	rs1557041672
NM_001033044.4(GLUL):c.-13-2A>G	rs2101936731
NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs)	rs1555961852
NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs)	rs398122960
NM_001034853.2(RPGR):c.2625dup (p.Gly876fs)	rs2519788844
NM_001040142.2(SCN2A):c.5317G>A (p.Ala1773Thr)	rs796053162
NM_001040436.3(YARS2):c.156C>G (p.Phe52Leu)	rs267607180
NM_001042492.3(NF1):c.5044T>C (p.Cys1682Arg)	rs1597829901
NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1])	rs864622639
NM_001070.5(TUBG1):c.1021C>T (p.Arg341Trp)	rs1057518249
NM_001077415.3(CRELD1):c.1128_1129del (p.Ala377fs)	rs753036307
NM_001081550.2(THOC2):c.2087C>T (p.Thr696Ile)	rs1556024875
NM_001098272.3(HMGCS1):c.803G>C (p.Cys268Ser)	rs769894152
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_001103.4(ACTN2):c.2520del (p.Asp841fs)	rs794728969
NM_001114753.3(ENG):c.-127C>T	rs1060501408
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.1615T>C (p.Cys539Arg)	rs1573929182
NM_001130987.2(DYSF):c.4179del (p.Lys1394fs)	rs1574340607
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp)	rs863225021
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_001163435.3(TBCK):c.1170+1G>A	rs765407874
NM_001163435.3(TBCK):c.1370dup (p.Asn457fs)	rs746860249
NM_001163435.3(TBCK):c.1532G>A (p.Arg511His)	rs869320711
NM_001163435.3(TBCK):c.1771C>T (p.Gln591Ter)	rs1057518332
NM_001163435.3(TBCK):c.1878G>T (p.Trp626Cys)	rs1579198447
NM_001163435.3(TBCK):c.2025del (p.Phe675fs)	rs749437743
NM_001163435.3(TBCK):c.557A>G (p.Asp186Gly)	rs2150065916
NM_001163435.3(TBCK):c.737_738del (p.Val246fs)	rs2150053706
NM_001164508.2(NEB):c.12160del (p.Trp4054fs)	rs1319778592
NM_001164508.2(NEB):c.13147C>T (p.Gln4383Ter)	rs1212374733
NM_001164508.2(NEB):c.20975_20976del (p.Lys6992fs)	rs1559680233
NM_001164508.2(NEB):c.22591-3C>G	rs778824203
NM_001164508.2(NEB):c.23967_23970del (p.Pro7990fs)	rs756384471
NM_001164508.2(NEB):c.24189_24192dup (p.Glu8065fs)	rs1553555882
NM_001164508.2(NEB):c.24211_24212dup (p.Leu8071fs)	rs1553552384
NM_001164508.2(NEB):c.24454C>T (p.Arg8152Ter)	rs763364977
NM_001164508.2(NEB):c.24666del (p.Phe8222fs)	rs794727136
NM_001164508.2(NEB):c.25214del (p.Gly8405fs)	rs1553520266
NM_001164508.2(NEB):c.5343+5G>A	rs2154175371
NM_001164508.2(NEB):c.8889+1G>A	rs1553963960
NM_001195553.2(DCX):c.706-2794G>A	rs2524701486
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.40558G>C (p.Val13520Leu)	rs587780488
NM_001267550.2(TTN):c.81723T>A (p.Tyr27241Ter)	rs769821404
NM_001267550.2(TTN):c.96901del (p.Arg32301fs)	rs2468919069
NM_001270974.2(HYDIN):c.10426C>T (p.Arg3476Ter)
NM_001270974.2(HYDIN):c.9352G>C (p.Val3118Leu)
NM_001271.4(CHD2):c.4173del (p.Lys1391fs)	rs749969667
NM_001277115.2(DNAH11):c.13515_13526dup (p.Val4510_Ala4511insLeuAlaGlyVal)	rs1254126467
NM_001277115.2(DNAH11):c.13531_*36del (p.Ala4511_Ter4517del)	rs1554294478
NM_001277115.2(DNAH11):c.3750dup (p.Cys1251fs)
NM_001277115.2(DNAH11):c.5506C>T (p.Arg1836Ter)	rs370080269
NM_001277115.2(DNAH11):c.6506C>A (p.Ser2169Ter)	rs373946181
NM_001277115.2(DNAH11):c.7508_7509insTTG (p.Gly2503_Lys2504insTer)	rs797045086
NM_001277115.2(DNAH11):c.9685C>T (p.Arg3229Trp)	rs886536075
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu)	rs267608501
NM_001348800.3(ZBTB20):c.1931C>T (p.Thr644Ile)	rs2550438450
NM_001352754.2(ARMC9):c.1027C>A (p.Arg343Ser)	rs759799287
NM_001356.5(DDX3X):c.1582C>T (p.Arg528Cys)	rs1064795323
NM_001356.5(DDX3X):c.173C>G (p.Ser58Ter)	rs1602126980
NM_001356.5(DDX3X):c.894C>A (p.Cys298Ter)	rs374274692
NM_001367721.1(CASK):c.2074C>T (p.Gln692Ter)	rs587783361
NM_001367721.1(CASK):c.764G>A (p.Arg255His)	rs587783369
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.5635G>T (p.Glu1879Ter)	rs1794456297
NM_001374828.1(ARID1B):c.6028del (p.Ala2010fs)	rs1794490994
NM_001374828.1(ARID1B):c.6072dup (p.Lys2025Ter)	rs886041878
NM_001374828.1(ARID1B):c.6145C>T (p.Arg2049Ter)	rs1554237658
NM_001375380.1(EBF3):c.422A>G (p.Tyr141Cys)	rs1057519519
NM_001375524.1(TRRAP):c.3104G>A (p.Arg1035Gln)	rs2116495143
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.1863_1864dup (p.Ser622fs)	rs1564497773
NM_001384140.1(PCDH15):c.2825del (p.Gly942fs)	rs758685587
NM_001384140.1(PCDH15):c.4990dup (p.Met1664fs)	rs766484375
NM_001395891.1(CLASP1):c.196-607G>A	rs180755563
NM_001451.3(FOXF1):c.881_902dup (p.Gly302fs)	rs2507451729
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_001875.5(CPS1):c.3596C>A (p.Ala1199Glu)	rs751372173
NM_001958.5(EEF1A2):c.391G>A (p.Gly131Arg)	rs2516783448
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	rs2515470310
NM_003292.3(TPR):c.2610+5G>A	rs2526595403
NM_003292.3(TPR):c.6625C>T (p.Arg2209Ter)	rs2526481808
NM_003477.3(PDHX):c.557del (p.Pro186fs)	rs2494708862
NM_003482.4(KMT2D):c.15061C>T (p.Arg5021Ter)	rs587783695
NM_003560.4(PLA2G6):c.1186+1G>A	rs761815070
NM_003560.4(PLA2G6):c.1591+5G>C	rs1064796469
NM_003560.4(PLA2G6):c.1765_1768del (p.Ser589fs)	rs1485023784
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.1A>G (p.Met1Val)	rs1167198937
NM_003560.4(PLA2G6):c.2349G>A (p.Trp783Ter)	rs775386225
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_003718.5(CDK13):c.2149G>A (p.Gly717Arg)	rs1057519632
NM_003718.5(CDK13):c.2638C>T (p.Arg880Cys)	rs1005618432
NM_003742.4(ABCB11):c.1146_1166del (p.Phe383_Ala389del)	rs1553468235
NM_003742.4(ABCB11):c.1198-1G>C	rs1171005948
NM_003742.4(ABCB11):c.1A>G (p.Met1Val)
NM_003742.4(ABCB11):c.2011+1G>C	rs376632574
NM_003742.4(ABCB11):c.2086C>T (p.Arg696Trp)	rs376216286
NM_003742.4(ABCB11):c.2179-2A>G
NM_003742.4(ABCB11):c.2343+2T>C	rs2105934712
NM_003742.4(ABCB11):c.257T>A (p.Met86Lys)	rs1258387740
NM_003742.4(ABCB11):c.2815-8A>G
NM_003742.4(ABCB11):c.3164T>C (p.Leu1055Pro)	rs747153406
NM_003742.4(ABCB11):c.3628A>C (p.Thr1210Pro)	rs1691232631
NM_003742.4(ABCB11):c.3728A>G (p.Asp1243Gly)	rs761200259
NM_003742.4(ABCB11):c.3945del (p.Thr1316fs)	rs886043366
NM_003742.4(ABCB11):c.611+2dup	rs2545453446
NM_003742.4(ABCB11):c.677C>T (p.Ser226Leu)	rs1382100120
NM_003742.4(ABCB11):c.721C>T (p.Leu241=)	rs2545450310
NM_003742.4(ABCB11):c.76+29T>G
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_004247.4(EFTUD2):c.2133-2A>G	rs2508729990
NM_004369.4(COL6A3):c.6199G>A (p.Glu2067Lys)	rs760446904
NM_004408.4(DNM1):c.1335+1638G>A	rs747079285
NM_004429.5(EFNB1):c.101_114del (p.Pro34fs)	rs879255545
NM_004463.3(FGD1):c.527dup (p.Leu177fs)	rs756586058
NM_004539.4(NARS1):c.1600C>T (p.Arg534Ter)	rs2051507892
NM_004646.4(NPHS1):c.2506+5G>T	rs762704370
NM_004928.3(CFAP410):c.441_444del (p.Glu148fs)	rs756970705
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met)	rs1555889162
NM_005321.3(H1-4):c.408dup (p.Lys137fs)	rs1581429395
NM_005327.7(HADH):c.587del (p.Ser196fs)	rs745727504
NM_005359.6(SMAD4):c.1595C>A (p.Ala532Asp)	rs1568211604
NM_005670.4(EPM2A):c.163C>T (p.Gln55Ter)	rs187930476
NM_005670.4(EPM2A):c.179G>A (p.Trp60Ter)	rs1332729329
NM_005670.4(EPM2A):c.745G>A (p.Val249Met)	rs1387516050
NM_005670.4(EPM2A):c.835G>A (p.Gly279Ser)	rs137852917
NM_005670.4(EPM2A):c.85C>G (p.Leu29Val)	rs2128649886
NM_005670.4(EPM2A):c.953dup (p.Gln319fs)	rs587776554
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.1225G>A (p.Val409Ile)	rs1565626928
NM_006009.4(TUBA1A):c.190C>T (p.Arg64Trp)	rs1064794568
NM_006009.4(TUBA1A):c.26T>C (p.Val9Ala)	rs1565627795
NM_006009.4(TUBA1A):c.641G>A (p.Arg214His)	rs1057517843
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs)	rs543698823
NM_006019.4(TCIRG1):c.702del (p.Ile235fs)	rs2495622382
NM_006204.4(PDE6C):c.2053del (p.Gln685fs)	rs2492563607
NM_006295.3(VARS1):c.2653C>T (p.Leu885Phe)	rs1060499734
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_006623.4(PHGDH):c.1117G>A (p.Ala373Thr)	rs201553627
NM_006642.5(SDCCAG8):c.1120C>T (p.Arg374Ter)	rs770084716
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly)	rs672601334
NM_007055.4(POLR3A):c.1186G>T (p.Val396Leu)	rs1428468560
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_007144.3(PCGF2):c.194C>T (p.Pro65Leu)	rs1567941252
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_014795.4(ZEB2):c.1884del (p.Phe628fs)	rs786204811
NM_014795.4(ZEB2):c.3095del (p.Cys1032fs)	rs1060500653
NM_014795.4(ZEB2):c.904C>T (p.Arg302Ter)	rs587784571
NM_014845.6(FIG4):c.2433AGA[2] (p.Glu813del)	rs876661144
NM_015166.4(MLC1):c.833A>G (p.Tyr278Cys)	rs1569244190
NM_015166.4(MLC1):c.917T>A (p.Leu306Gln)	rs768711345
NM_015192.4(PLCB1):c.664C>T (p.Arg222Ter)	rs990536521
NM_015272.5(RPGRIP1L):c.3594G>A (p.Trp1198Ter)	rs1567800920
NM_015443.4(KANSL1):c.611dup (p.Met205fs)	rs1304078301
NM_015629.4(PRPF31):c.1146+2T>G	rs2073971890
NM_015629.4(PRPF31):c.1165C>T (p.Gln389Ter)	rs2146449862
NM_016038.4(SBDS):c.305_308del (p.Thr102fs)	rs745661722
NM_016580.4(PCDH12):c.2765_2766del (p.Pro922fs)	rs1596646165
NM_017414.4(USP18):c.652C>T (p.Gln218Ter)	rs1085307118
NM_017534.6(MYH2):c.904+1G>C	rs879255253
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_017882.3(CLN6):c.662A>G (p.Tyr221Cys)	rs764571295
NM_018122.5(DARS2):c.1273G>T (p.Glu425Ter)	rs121918211
NM_018122.5(DARS2):c.1456C>G (p.Leu486Val)	rs923118148
NM_018122.5(DARS2):c.1876C>G (p.Leu626Val)	rs121918205
NM_018122.5(DARS2):c.228-16C>A	rs778731200
NM_018122.5(DARS2):c.228-22T>A	rs1557853625
NM_018122.5(DARS2):c.742C>T (p.Gln248Ter)	rs772489337
NM_018136.5(ASPM):c.4363G>T (p.Glu1455Ter)	rs1057520873
NM_018294.6(CWF19L1):c.1158dup (p.Lys387fs)	rs1589611043
NM_018486.3(HDAC8):c.1081C>T (p.Arg361Ter)	rs1555948969
NM_019109.5(ALG1):c.434G>A (p.Gly145Asp)	rs387906926
NM_020366.4(RPGRIP1):c.2367+23del	rs781728563
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)	rs763190774
NM_022455.5(NSD1):c.3922-9T>A	rs2480589655
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_025114.4(CEP290):c.4792_4795del (p.Lys1598fs)	rs1592833648
NM_025243.4(SLC19A3):c.548C>T (p.Ala183Val)	rs199970847
NM_030632.3(ASXL3):c.1849_1850del (p.Ser617fs)	rs1599563995
NM_030632.3(ASXL3):c.3330_3333dup (p.Ala1112fs)	rs1599570895
NM_032856.5(WDR73):c.766dup (p.Arg256fs)	rs727502864
NM_033028.5(BBS4):c.777_778del (p.Tyr259_Arg260delinsTer)	rs1459736027
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_080605.4(B3GALT6):c.588dup (p.Arg197fs)	rs533071750
NM_130811.4(SNAP25):c.197A>C (p.Gln66Pro)	rs2064035939
NM_138477.4(CDAN1):c.3124C>T (p.Arg1042Trp)	rs80338697
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	rs2526056353
NM_152424.4(AMER1):c.1489C>T (p.Arg497Ter)	rs1930251154
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	rs2475052844
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_182931.3(KMT2E):c.3198del (p.Trp1067fs)	rs1584805745
NM_182931.3(KMT2E):c.556+1G>A	rs1584761229
NM_198271.5(LMOD3):c.723_733del (p.Asp242fs)	rs769824247
NM_198503.5(KCNT2):c.569G>A (p.Arg190His)	rs1572547466
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_206926.2(SELENON):c.1273C>T (p.Gln425Ter)	rs760063405
NM_206926.2(SELENON):c.1277C>T (p.Ser426Phe)	rs767530943
NM_206926.2(SELENON):c.1304G>A (p.Arg435Gln)	rs779162837
NM_206926.2(SELENON):c.301+956_301+959del	rs773670891
NM_206926.2(SELENON):c.761_762del (p.Val254fs)	rs1184282261
NM_206926.2(SELENON):c.776A>G (p.His259Arg)	rs776738184
NM_206926.2(SELENON):c.9_33del (p.Ala4fs)	rs886041619
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
NR_023343.3(RNU4ATAC):n.47T>G	rs767236617
NR_023343.3(RNU4ATAC):n.53C>G	rs180755563
Single allele