Variants from 3billion with conflicting interpretations

Minimum review status of the submission from 3billion:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from 3billion:	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)
		ClinVar version: 2025-06-30

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
5019	1778	0	1225	243	17	380	1757

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
3billion		pathogenic	likely pathogenic	uncertain significance	likely benign	benign	affects	association	association not found	drug response	established risk allele	likely pathogenic, low penetrance	protective	risk factor	uncertain risk allele
	pathogenic	0	747	78	2	1	3	0	1	0	1	0	0	3	0
	likely pathogenic	477	0	127	2	3	1	1	0	2	0	0	1	3	1
	uncertain significance	70	122	0	14	2	0	0	0	0	0	1	0	0	0
	likely benign	1	6	226	0	1	0	0	0	0	0	0	0	0	0
	benign	0	0	1	0	0	0	0	0	0	0	0	0	0	0

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	811	0	176	119	0	69	364
OMIM	0	834	0	164	1	7	25	197
Fulgent Genetics, Fulgent Genetics	0	392	0	106	48	0	32	186
Baylor Genetics	0	501	0	101	17	0	29	147
Counsyl	0	144	0	107	1	0	24	132
Revvity Omics, Revvity	0	230	0	56	22	0	19	97
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	160	0	47	6	0	28	81
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	349	0	69	0	0	7	76
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	308	0	50	6	0	17	73
Illumina Laboratory Services, Illumina	0	153	0	27	38	0	7	72
Genome-Nilou Lab	0	238	0	51	9	0	6	66
Mendelics	0	154	0	43	2	0	13	58
Neuberg Centre For Genomic Medicine, NCGM	0	204	0	36	1	0	14	51
Institute of Human Genetics, University of Leipzig Medical Center	0	218	0	35	2	0	11	48
Juno Genomics, Hangzhou Juno Genomics, Inc	0	140	0	34	0	0	10	44
Natera, Inc.	0	261	0	24	13	0	5	42
Department of Pathology and Laboratory Medicine, Sinai Health System	0	78	0	21	6	1	14	42
MGZ Medical Genetics Center	0	123	0	24	0	0	7	31
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	81	0	18	2	0	7	27
Genomics England Pilot Project, Genomics England	0	30	0	27	0	0	0	27
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	64	0	18	2	0	6	26
Myriad Genetics, Inc.	0	93	0	23	0	0	3	26
Solve-RD Consortium	0	9	0	24	0	0	0	24
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	0	128	0	20	0	0	3	23
SIB Swiss Institute of Bioinformatics	0	30	0	21	0	0	1	22
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	90	0	16	1	0	4	21
Genetic Services Laboratory, University of Chicago	0	97	0	17	1	0	2	20
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	92	0	20	0	0	0	20
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	67	0	18	0	0	1	19
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	0	121	0	17	0	0	1	18
Ambry Genetics	0	10	0	2	15	0	0	17
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	36	0	11	0	0	5	16
New York Genome Center	0	32	0	11	2	0	3	16
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	75	0	14	0	0	1	15
Centogene AG - the Rare Disease Company	0	79	0	13	0	0	2	15
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	38	0	11	0	0	4	15
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	54	0	12	0	0	3	15
SingHealth Duke-NUS Institute of Precision Medicine	0	15	0	12	0	0	3	15
Laboratory of Genetics and Molecular Cardiology, University of São Paulo	0	5	0	11	0	0	3	14
Institute of Medical Molecular Genetics, University of Zurich	0	3	0	12	0	0	1	13
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	0	12	0	11	0	0	2	13
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	36	0	12	0	0	1	13
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	0	43	0	9	0	0	2	11
Johns Hopkins Genomics, Johns Hopkins University	0	23	0	9	0	0	2	11
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)	0	3	0	9	0	0	1	10
UCLA Clinical Genomics Center, UCLA	0	8	0	10	0	0	0	10
LDLR-LOVD, British Heart Foundation	0	5	0	6	0	0	3	9
NeuroMeGen, Hospital Clinico Santiago de Compostela	0	2	0	9	0	0	0	9
NIHR Bioresource Rare Diseases, University of Cambridge	0	8	0	9	0	0	0	9
Undiagnosed Diseases Network, NIH	0	29	0	7	0	0	2	9
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University	0	18	0	6	0	0	3	9
Molecular Biology Laboratory, Fundació Puigvert	0	7	0	9	0	0	0	9
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana	0	7	0	8	0	0	1	9
Molecular Diagnostics Lab, Nemours Children's Health, Delaware	0	10	0	8	0	0	0	8
GeneReviews	0	280	0	6	0	0	2	8
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	0	6	0	7	0	0	1	8
Ocular Genomics Institute, Massachusetts Eye and Ear	0	21	0	6	0	0	2	8
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	0	40	0	5	2	0	1	8
Lifecell International Pvt. Ltd	0	26	0	6	0	0	2	8
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center	0	7	0	5	1	0	1	7
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	0	24	0	6	0	0	1	7
ClinGen PAH Variant Curation Expert Panel	0	19	0	6	0	0	1	7
Paris Brain Institute, Inserm - ICM	0	9	0	5	0	0	2	7
Precision Medicine Center, Zhengzhou University	0	6	0	5	0	0	2	7
Molecular Genetics, Royal Melbourne Hospital	0	27	0	4	0	0	3	7
Knight Diagnostic Laboratories, Oregon Health and Sciences University	0	30	0	5	0	0	1	6
Genetics and Molecular Pathology, SA Pathology	0	60	0	4	0	0	2	6
Kariminejad - Najmabadi Pathology & Genetics Center	0	21	0	5	0	0	1	6
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill	0	12	0	6	0	0	0	6
Genomic Medicine Lab, University of California San Francisco	0	14	0	4	0	0	2	6
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn	0	13	0	2	3	0	1	6
Suma Genomics	0	24	0	3	0	0	3	6
Dunham Lab, University of Washington	0	2	0	2	0	0	4	6
Institute of Immunology and Genetics Kaiserslautern	0	21	0	6	0	0	0	6
Breakthrough Genomics, Breakthrough Genomics	0	20	0	5	0	0	1	6
Center of Human Genetics, Hôpital Erasme	0	22	0	5	0	0	1	6
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	43	0	4	1	0	0	5
Blueprint Genetics	0	17	0	5	0	0	0	5
Center for Medical Genetics Ghent, University of Ghent	0	5	0	5	0	0	0	5
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute	0	13	0	4	1	0	0	5
Center of Genomic medicine, Geneva, University Hospital of Geneva	0	24	0	4	0	1	0	5
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin	0	7	0	4	0	0	1	5
CeGaT Center for Human Genetics Tuebingen	0	1	0	5	0	0	0	5
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix	0	5	0	3	0	0	2	5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	0	40	0	5	0	0	0	5
Fundacion Hipercolesterolemia Familiar	0	3	0	3	0	0	2	5
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum	0	6	0	4	0	0	1	5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	0	57	0	5	0	0	0	5
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare	0	17	0	5	0	0	0	5
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	0	26	0	5	0	0	0	5
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)	0	19	0	3	0	0	2	5
All of Us Research Program, National Institutes of Health	0	23	0	4	0	0	1	5
Center for Human Genetics, Inc, Center for Human Genetics, Inc	0	44	0	4	0	0	0	4
Genome Diagnostics Laboratory, The Hospital for Sick Children	0	25	0	2	0	0	2	4
GeneDx	0	3	0	4	0	0	0	4
Elsea Laboratory, Baylor College of Medicine	0	7	0	0	0	0	4	4
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine	0	16	0	4	0	0	0	4
Division of Human Genetics, Children's Hospital of Philadelphia	0	12	0	4	0	0	0	4
University of Washington Center for Mendelian Genomics, University of Washington	0	3	0	4	0	0	0	4
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine	0	4	0	3	0	0	1	4
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	0	25	0	3	0	0	1	4
Color Diagnostics, LLC DBA Color Health	0	14	0	4	0	0	0	4
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille	0	5	0	3	0	0	1	4
Robarts Research Institute, Western University	0	3	0	4	0	0	0	4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	16	0	3	0	0	1	4
Génétique des Maladies du Développement, Hospices Civils de Lyon	0	21	0	4	0	0	0	4
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota	0	8	0	3	0	0	1	4
Cavalleri Lab, Royal College of Surgeons in Ireland	0	2	0	2	0	0	2	4
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital	0	16	0	4	0	0	0	4
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris	0	11	0	3	0	0	1	4
Clinical Genomics Laboratory, Stanford Medicine	0	18	0	1	0	0	3	4
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center	0	17	0	3	1	0	0	4
Department of Human Genetics, Hannover Medical School	0	11	0	3	0	0	1	4
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	0	8	0	2	0	0	1	3
Clinical Biochemistry Laboratory, Health Services Laboratory	0	4	0	3	0	0	0	3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	0	22	0	1	0	0	2	3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital	0	9	0	3	0	0	0	3
Institute of Human Genetics, Cologne University	0	8	0	2	0	0	1	3
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust	0	4	0	3	0	0	0	3
ClinVar Staff, National Center for Biotechnology Information (NCBI)	0	4	0	2	0	0	1	3
CSER _CC_NCGL, University of Washington	0	0	0	2	0	0	1	3
Medical Molecular Genetics Department, National Research Center	0	6	0	1	0	0	2	3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	0	9	0	3	0	0	0	3
Daryl Scott Lab, Baylor College of Medicine	0	32	0	1	1	0	1	3
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation	0	4	0	3	0	0	0	3
Translational Research Program on Neuronal Ceroid Lipofuscinosis, Center for the Study of Inborn Errors of Metabolism	0	1	0	1	0	0	2	3
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova	0	9	0	0	0	0	3	3
Pathology and Clinical Laboratory Medicine, King Fahad Medical City	0	10	0	1	0	0	2	3
Institute of Human Genetics, Heidelberg University	0	10	0	3	0	0	0	3
National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center	0	1	0	0	0	3	0	3
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine	0	7	0	3	0	0	0	3
Reproductive Health Research and Development, BGI Genomics	0	14	0	1	0	0	2	3
Laboratory of Genetics in Ophthalmology, Institut Imagine	0	9	0	3	0	0	0	3
Molecular Genetics Lab, CHRU Brest	0	4	0	2	0	0	1	3
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel	0	5	0	2	0	0	1	3
Inherited Neuropathy Consortium Ii, University Of Miami	0	1	0	0	0	0	3	3
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences	0	0	0	3	0	0	0	3
Genomics And Bioinformatics Analysis Resource, Columbia University	0	8	0	3	0	0	0	3
PreventionGenetics, part of Exact Sciences	0	1	0	2	0	0	0	2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital	0	12	0	2	0	0	0	2
Institute of Human Genetics, University of Ulm	0	5	0	1	0	0	1	2
PXE International	0	2	0	2	0	0	0	2
Center for Genetic Medicine Research, Children's National Medical Center	0	0	0	2	0	0	0	2
Clinical Genomics Laboratory, Washington University in St. Louis	0	21	0	2	0	0	0	2
Service de Génétique Moléculaire, Hôpital Robert Debré	0	9	0	2	0	0	0	2
Centre for Translational Omics - GOSgene, University College London	0	0	0	2	0	0	0	2
Centre of Medical Genetics, University of Antwerp	0	1	0	2	0	0	0	2
Laboratory of Human Genetics, Universidade de São Paulo	0	4	0	1	1	0	0	2
Center for Human Genetics, University of Leuven	0	0	0	2	0	0	0	2
Laboratory of Prof. Karen Avraham, Tel Aviv University	0	4	0	1	0	0	1	2
Hereditary Research Laboratory, Bethlehem University	0	2	0	2	0	0	0	2
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	0	6	0	2	0	0	0	2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues	0	5	0	0	0	0	2	2
Neurogenetics Laboratory - MEYER, AOU Meyer	0	0	0	2	0	0	0	2
Center for Molecular Medicine, Children’s Hospital of Fudan University	0	8	0	2	0	0	0	2
Yale Center for Mendelian Genomics, Yale University	0	6	0	1	0	0	1	2
Laboratoire de Génétique Moléculaire, CHU Bordeaux	0	5	0	2	0	0	0	2
Iberoamerican FH Network	0	2	0	2	0	0	0	2
Sharon lab, Hadassah-Hebrew University Medical Center	0	5	0	2	0	0	0	2
Leiden Open Variation Database	0	5	0	2	0	0	0	2
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine	0	6	0	1	0	0	1	2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	15	0	2	0	0	0	2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	13	0	2	0	0	0	2
Laboratory of Medical Genetics, University of Torino	0	5	0	1	0	0	1	2
Gharavi Laboratory, Columbia University	0	3	0	2	0	0	0	2
University of Washington Department of Laboratory Medicine, University of Washington	0	3	0	0	0	0	2	2
deCODE genetics, Amgen	0	1	0	2	0	0	0	2
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics	0	0	0	1	0	0	1	2
Genome Medicine, Institute for Basic Research in Developmental Disabilities	0	1	0	2	0	0	0	2
CFTR-France	0	9	0	2	0	0	0	2
Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine	0	0	0	2	0	0	0	2
Clinical Genetics Laboratory, Skane University Hospital Lund	0	9	0	0	0	0	2	2
Molecular Diagnosis Center for Deafness	0	5	0	2	0	0	0	2
Center of Excellence for Medical Genomics, Chulalongkorn University	0	6	0	1	0	0	1	2
Molecular Medicine, University of Pavia	0	1	0	2	0	0	0	2
Institute of Human Genetics, University Hospital Muenster	0	10	0	2	0	0	0	2
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi	0	1	0	1	0	1	0	2
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine	0	1	0	1	0	0	1	2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ	0	0	0	2	0	0	0	2
Chinese Inherited Urolithiasis Consortium, The Affiliated Yantai Yuhuangding Hospital of Qingdao University	0	3	0	2	0	0	0	2
Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania	0	0	0	1	0	0	1	2
Centre for Human Genetics, University of Kinshasa	0	1	0	2	0	0	0	2
ATS em Genética Clínica, Universidade Federal do Rio Grande do Sul	0	2	0	2	0	0	0	2
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli	0	7	0	2	0	0	0	2
Houlden Lab, UCL Institute of Neurology	0	0	0	1	0	0	1	2
Provincial Medical Genetics Program of British Columbia, University of British Columbia	0	8	0	2	0	0	0	2
Eurofins-Biomnis	0	7	0	1	0	0	1	2
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences	0	3	0	2	0	0	0	2
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL)	0	7	0	2	0	0	0	2
KCCC/NGS Laboratory, Kuwait Cancer Control Center	0	3	0	1	0	1	0	2
First Genomix Gene Laboratory, Genetic Diagnostics Department	0	0	0	2	0	0	0	2
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen	0	2	0	0	0	0	2	2
The Purple Gene Clinic, Mumbai	0	0	0	2	0	0	0	2
Cardiogenetics and Myogenetics Molecular and Cellular Functional Unit, Aphp Sorbonne University-Hopital Pitie Salpetriere	0	0	0	2	0	0	0	2
Lab De Baere, Eye and Developmental Genetics Lab, Ghent University	0	0	0	2	0	0	0	2
Athena Diagnostics	0	14	0	1	0	0	0	1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital	0	22	0	1	0	0	0	1
Collagen Diagnostic Laboratory, University of Washington	0	4	0	1	0	0	0	1
HFI Laboratory at Boston University, Boston University	0	2	0	1	0	0	0	1
Institute of Human Genetics, University of Goettingen	0	1	0	1	0	0	0	1
King Laboratory, University of Washington	0	10	0	1	0	0	0	1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital	0	17	0	0	0	0	1	1
Human Developmental Genetics Laboratory, Medical College of Wisconsin	0	1	0	1	0	0	0	1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals	0	29	0	1	0	0	0	1
FirmaLab, FirmaLab	0	1	0	0	0	0	1	1
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	19	0	1	0	0	0	1
MGH Harvard Center for Reproductive Medicine, Massachusetts General Hospital	0	0	0	1	0	0	0	1
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital	0	3	0	1	0	0	0	1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences	0	13	0	1	0	0	0	1
Mayo Clinic Laboratories, Mayo Clinic	0	4	0	0	1	0	0	1
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation	0	0	0	0	0	0	1	1
IIFP, CONICET-UNLP	0	0	0	0	0	0	1	1
Inserm U 954, Faculté de Médecine de Nancy	0	0	0	0	0	0	1	1
PharmGKB	0	0	0	0	0	1	0	1
Breast Cancer Information Core (BIC) (BRCA1)	0	0	0	0	0	0	1	1
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela	0	1	0	0	0	0	1	1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg	0	17	0	1	0	0	0	1
Northcott Neuroscience Laboratory, ANZAC Research Institute	0	1	0	1	0	0	0	1
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf	0	0	0	1	0	0	0	1
Department of Medical Genetics, Oslo University Hospital	0	5	0	1	0	0	0	1
Clinical Genetics and Genomics, Karolinska University Hospital	0	2	0	0	0	0	1	1
Duke University Health System Sequencing Clinic, Duke University Health System	0	19	0	1	0	0	0	1
Centre for Human Genetics	0	5	0	1	0	0	0	1
Institute for Integrative and Experimental Genomics, University of Luebeck	0	0	0	1	0	0	0	1
Hadassah Hebrew University Medical Center	0	6	0	1	0	0	0	1
UW Hindbrain Malformation Research Program, University of Washington	0	3	0	1	0	0	0	1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS	0	2	0	1	0	0	0	1
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals	0	9	0	1	0	0	0	1
Gene Discovery Core-Manton Center, Boston Children's Hospital	0	0	0	1	0	0	0	1
National Institute on Deafness and Communication Disorders, National Institutes of Health	0	2	0	1	0	0	0	1
Neurogenetics Laboratory, Gh Pitie Salpetriere Aphp	0	0	0	1	0	0	0	1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	0	7	0	1	0	0	0	1
Translational Genomics Laboratory, University of Maryland School of Medicine	0	0	0	1	0	0	0	1
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge	0	2	0	1	0	0	0	1
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur	0	1	0	1	0	0	0	1
The Genetics Institute, Rambam Health Care Campus	0	0	0	0	0	0	1	1
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital	0	0	0	1	0	0	0	1
Clinical Genetics Laboratory, Region Ostergotland	0	7	0	1	0	0	0	1
Institute of Medical Genetics, University of Zurich	0	2	0	1	0	0	0	1
Rare Disease Group, Clinical Genetics, Karolinska Institutet	0	1	0	0	0	0	1	1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital	0	3	0	1	0	0	0	1
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada	0	2	0	1	0	0	0	1
Pediatric Metabolic Diseases, Hacettepe University	0	2	0	1	0	0	0	1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital	0	8	0	1	0	0	0	1
Inherited Neuropathy Consortium	0	0	0	0	0	0	1	1
Wendy Chung Laboratory, Boston Children's Hospital	0	3	0	1	0	0	0	1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	0	5	0	0	1	0	0	1
Uitto Lab, Thomas Jefferson University	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	1	0	0	0	1
Breda Genetics srl	0	9	0	0	1	0	0	1
Genetic Diseases Diagnostic Center, Koc University Hospital	0	0	0	1	0	0	0	1
Institute of Bioinformatics	0	0	0	1	0	0	0	1
Wessex Regional Genetics Laboratory, Salisbury District Hospital	0	5	0	1	0	0	0	1
Centre de recherche St Antoine, Sorbonne Université, INSERM, Sorbonne University	0	0	0	0	0	0	1	1
Genomic Diagnostics Laboratory, National Institute of Medical Genomics	0	0	0	1	0	0	0	1
ClinGen TP53 Variant Curation Expert Panel, ClinGen	0	2	0	0	0	0	1	1
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles	0	1	0	1	0	0	0	1
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia	0	4	0	1	0	0	0	1
Division of Medical Genetics, University of Washington	0	0	0	1	0	0	0	1
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University	0	8	0	1	0	0	0	1
Section for Clinical Neurogenetics, University of Tübingen	0	2	0	1	0	0	0	1
Medical Genetics Laboratory, Tarbiat Modares University	0	1	0	1	0	0	0	1
Cardiology unit, Meyer University Hospital	0	0	0	0	0	0	1	1
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel	0	8	0	1	0	0	0	1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University	0	2	0	1	0	0	0	1
ENT and Head and Neck Research Center and Department, The Five Senses Health Institute, Iran University of Medical Sciences	0	0	0	1	0	0	0	1
Pars Genome Lab	0	4	0	1	0	0	0	1
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	0	5	0	1	0	0	0	1
GenomeConnect - Simons Searchlight	0	10	0	1	0	0	0	1
Pediatric Department, Xiangya Hospital, Central South University	0	3	0	1	0	0	0	1
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University	0	1	0	0	0	1	0	1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital	0	7	0	1	0	0	0	1
Department of Pediatric Nephrology, Wuhan Children's Hospital	0	0	0	0	0	0	1	1
Pediatric Genetics Clinic, Sheba Medical Center	0	11	0	1	0	0	0	1
Rare Diseases Genetics and Genomics, Islamia College Peshawar	0	3	0	1	0	0	0	1
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel	0	8	0	0	0	0	1	1
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen	0	0	0	1	0	0	0	1
Bioinformatics Unit, Institut Pasteur de Montevideo	0	2	0	1	0	0	0	1
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology	0	2	0	1	0	0	0	1
DASA	0	55	0	1	0	0	0	1
Servicio de Inmunologia, Hospital Universitario Virgen del Rocio	0	0	0	1	0	0	0	1
DBGen Ocular Genomics	0	5	0	1	0	0	0	1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	0	17	0	1	0	0	0	1
Department of Second Dental Center, Ninth People’s Hospital, Shanghai Jiao Tong University School of Medicine	0	0	0	0	0	1	0	1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center	0	2	0	1	0	0	0	1
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	0	0	0	0	0	1	0	1
Neurology Department, Shenzhen Children's Hospital	0	1	0	1	0	0	0	1
DNA-diagnostics Laboratory, Research Centre For Medical Genetics	0	0	0	0	0	0	1	1
European Hospital Georges Pompidou Genetics Department, Assistance Publique - Hôpitaux de Paris AP-HP	0	4	0	1	0	0	0	1
Hacettepe Pediatric Genetics Laboratory, Hacettepe University	0	1	0	0	0	0	1	1
Human Genetics Bochum, Ruhr University Bochum	0	0	0	1	0	0	0	1
University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM)	0	1	0	1	0	0	0	1
Molecular Diagnostics Laboratory, University of Rochester Medical Center	0	0	0	1	0	0	0	1
Molecular Lab, Department of Haematology, Christian Medical College	0	0	0	1	0	0	0	1
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska"	0	3	0	1	0	0	0	1
Cytogenetique et Genetique Moleculaire, CHU Besancon	0	0	0	0	0	0	1	1
Arcensus	0	4	0	1	0	0	0	1
Genetics Laboratory, University of Sistan and Baluchestan	0	0	0	0	0	0	1	1
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences	0	0	0	0	0	0	1	1
Geisinger Clinic, Geisinger Health System	0	4	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	6	0	1	0	0	0	1
Department of Medical and Surgical Sciences, University of Bologna	0	0	0	1	0	0	0	1
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology	0	2	0	1	0	0	0	1
St. Anna Children's Cancer Research Institute (CCRI)	0	1	0	1	0	0	0	1
Rare Genetic Disease Lab, Dept of Zoology, Government Postgraduate College Dargai Malakand, Higher Education Govt. of Khyber Pakhtunkhwa	0	6	0	1	0	0	0	1
Payam Genetics Center, General Welfare Department of North Khorasan Province	0	1	0	1	0	0	0	1
Département de Neurologie, Hospices Civils de Lyon	0	0	0	1	0	0	0	1
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University	0	2	0	0	0	0	1	1
King Fahd Medical Research Center, King Abdulaziz University	0	0	0	1	0	0	0	1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili	0	1	0	1	0	0	0	1
KardioGenetik, Herz- und Diabeteszentrum NRW	0	2	0	1	0	0	0	1
Department of Pediatrics, ShengJing Hospital of China Medical University	0	0	0	1	0	0	0	1
Cellular and Molecular Medicine Research Institute, Urmia University of Medical Sciences	0	3	0	0	0	0	1	1
Clingen Thrombosis Variant Curation Expert Panel, ClinGen	0	1	0	1	0	0	0	1
Centre for Population Genomics, CPG	0	14	0	0	0	0	1	1
Department of Pediatrics, National Cheng-Kung University Hospital	0	1	0	1	0	0	0	1
Rolfs Rare Disease Consulting, Rolfs Consulting Und Verwaltungs GmbH	0	2	0	1	0	0	0	1
Dr.Nikuei Genetic Center	0	3	0	0	0	0	1	1
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital	0	2	0	1	0	0	0	1
Institute of Rare Diseases, West China Hospital, Sichuan University	0	1	0	0	0	0	1	1
Genetics Department, Catlab	0	0	0	1	0	0	0	1
Department of Laboratory Medicine, Jeonbuk National University Hospital	0	0	0	0	0	0	1	1
Clinical Genomics, G42 Labs	0	1	0	1	0	0	0	1
Laboratorio de Genomica, Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" (CEDIE), Hospital de Niños Dr. Ricardo Gutierrez	0	0	0	0	0	0	1	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val)	rs1801133	0.27446
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)	rs1050829	0.08672
NM_000402.4(G6PD):c.292G>A (p.Val98Met)	rs1050828	0.03616
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)	rs13078881	0.03225
NM_000500.9(CYP21A2):c.188A>T (p.His63Leu)	rs9378252	0.00964
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)	rs35887622	0.00944
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser)	rs17107315	0.00797
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr)	rs202242769	0.00567
NM_000500.9(CYP21A2):c.719T>A (p.Met240Lys)	rs6476	0.00523
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser)	rs6445	0.00507
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)	rs104895094	0.00506
NM_000110.4(DPYD):c.1905+1G>A	rs3918290	0.00474
NM_002863.5(PYGL):c.1900G>C (p.Asp634His)	rs35026927	0.00426
NM_000518.4(HBB):c.19G>A (p.Glu7Lys)	rs33930165	0.00414
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)	rs72474224	0.00393
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)	rs34557412	0.00391
NM_000152.5(GAA):c.-32-13T>G	rs386834236	0.00380
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)	rs61755320	0.00364
NM_016038.4(SBDS):c.258+2T>C	rs113993993	0.00337
NM_016335.6(PRODH):c.1322T>C (p.Leu441Pro)	rs2904551	0.00282
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp)	rs116100695	0.00279
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)	rs1800553	0.00269
NM_000065.5(C6):c.2381+2T>C	rs76202909	0.00242
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)	rs113624356	0.00188
NM_019098.5(CNGB3):c.1148del (p.Thr383fs)	rs397515360	0.00183
NM_172250.3(MMAA):c.*97G>C	rs148424051	0.00170
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala)	rs145588689	0.00162
NM_183065.4(TMEM107):c.*759C>T	rs201787275	0.00162
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)	rs113994096	0.00160
NM_007055.4(POLR3A):c.1909+22G>A	rs191875469	0.00156
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)	rs113994094	0.00151
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro)	rs76723693	0.00149
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)	rs28940579	0.00147
NM_000372.5(TYR):c.650G>A (p.Arg217Gln)	rs61754365	0.00143
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_000098.3(CPT2):c.338C>T (p.Ser113Leu)	rs74315294	0.00131
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His)	rs79204362	0.00125
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala)	rs80265967	0.00121
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn)	rs6475	0.00117
NM_002470.4(MYH3):c.-9+1G>A	rs557849165	0.00117
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)	rs121908287	0.00115
NM_032317.3(DNAJC30):c.152A>G (p.Tyr51Cys)	rs61732167	0.00111
NM_001377.3(DYNC2H1):c.11263A>G (p.Met3755Val)	rs137853026	0.00105
NM_016038.4(SBDS):c.184A>T (p.Lys62Ter)	rs120074160	0.00105
NM_213599.3(ANO5):c.692G>T (p.Gly231Val)	rs137854523	0.00098
NM_000155.4(GALT):c.404C>T (p.Ser135Leu)	rs111033690	0.00094
NM_018161.5(NADSYN1):c.1717G>A (p.Ala573Thr)	rs144139747	0.00081
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val)	rs141976414	0.00080
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)	rs113994097	0.00076
NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu)	rs34946978	0.00071
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)	rs80338933	0.00067
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro)	rs145303331	0.00062
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met)	rs150591260	0.00059
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met)	rs143319805	0.00057
NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu)	rs9378251	0.00055
NM_000265.7(NCF1):c.579G>A (p.Trp193Ter)	rs145360423	0.00054
NM_001361.5(DHODH):c.403C>T (p.Arg135Cys)	rs201230446	0.00054
NM_000372.5(TYR):c.1037-7T>A	rs61754381	0.00051
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys)	rs116171274	0.00051
NM_138691.3(TMC1):c.1763+3A>G	rs370898981	0.00051
NM_000428.3(LTBP2):c.1686+3G>A	rs190814774	0.00048
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter)	rs182018947	0.00048
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)	rs141138948	0.00048
NM_000500.9(CYP21A2):c.1447C>T (p.Pro483Ser)	rs776989258	0.00047
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)	rs199605265	0.00046
NM_020549.5(CHAT):c.605T>G (p.Met202Arg)	rs376808313	0.00045
NM_001145165.2(DOHH):c.455C>T (p.Pro152Leu)	rs553950608	0.00044
NM_002887.4(RARS1):c.1367C>T (p.Ser456Leu)	rs139644798	0.00044
NM_006390.4(IPO8):c.339G>A (p.Met113Ile)	rs149978470	0.00044
NM_006715.4(MAN2C1):c.607G>A (p.Gly203Arg)	rs190692217	0.00044
NM_006031.6(PCNT):c.2833C>T (p.Arg945Cys)	rs147358856	0.00043
NM_003664.5(AP3B1):c.1184A>G (p.Asn395Ser)	rs145351589	0.00042
NM_207361.6(FREM2):c.6201T>A (p.Asn2067Lys)	rs114229197	0.00042
NM_020117.11(LARS1):c.1292T>A (p.Val431Asp)	rs150429680	0.00041
NM_144508.5(KNL1):c.6416-13T>G	rs370035611	0.00041
NM_000500.9(CYP21A2):c.1451G>C (p.Arg484Pro)	rs200005406	0.00039
NM_145064.3(STAC3):c.851G>C (p.Trp284Ser)	rs140291094	0.00039
NM_000152.5(GAA):c.752C>T (p.Ser251Leu)	rs200856561	0.00038
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter)	rs137852700	0.00038
NM_001358530.2(MOCS1):c.814C>T (p.Arg272Trp)	rs146944225	0.00038
NM_014249.4(NR2E3):c.119-2A>C	rs2723341	0.00038
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)	rs77375493	0.00037
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)	rs62642937	0.00036
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu)	rs28939378	0.00036
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser)	rs34637584	0.00036
NM_000275.3(OCA2):c.593C>T (p.Pro198Leu)	rs183487020	0.00035
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg)	rs200321110	0.00035
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys)	rs1801175	0.00034
NM_003560.4(PLA2G6):c.1408A>G (p.Met470Val)	rs201801144	0.00034
NM_012452.3(TNFRSF13B):c.260T>A (p.Ile87Asn)	rs72553877	0.00034
NM_002292.4(LAMB2):c.4304C>T (p.Pro1435Leu)	rs140968382	0.00032
NM_018344.6(SLC29A3):c.707C>T (p.Thr236Met)	rs147552838	0.00032
NM_018993.4(RIN2):c.41G>A (p.Arg14Gln)	rs367797077	0.00032
NM_003104.6(SORD):c.458C>A (p.Ala153Asp)	rs145813597	0.00031
NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs)	rs72553875	0.00031
NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter)	rs201337954	0.00031
NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp)	rs76917243	0.00030
NM_000277.3(PAH):c.194T>C (p.Ile65Thr)	rs75193786	0.00030
NM_001244710.2(GFPT1):c.331C>T (p.Arg111Cys)	rs201322234	0.00030
NM_001256071.3(RNF213):c.14429G>A (p.Arg4810Lys)	rs112735431	0.00030
NM_001298.3(CNGA3):c.967G>C (p.Ala323Pro)	rs146195955	0.00030
NM_006892.4(DNMT3B):c.1219G>A (p.Gly407Ser)	rs148646143	0.00030
NM_001083116.3(PRF1):c.1000G>A (p.Gly334Ser)	rs145463632	0.00029
NM_001383.6(DPH1):c.359T>C (p.Leu120Pro)	rs200530055	0.00029
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)	rs119103267	0.00029
NM_207581.4(DUOXA2):c.205+2T>C	rs201506037	0.00029
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)	rs5030868	0.00028
NM_021830.5(TWNK):c.1523A>G (p.Tyr508Cys)	rs80356540	0.00028
NM_001358530.2(MOCS1):c.1016G>A (p.Arg339Gln)	rs142478972	0.00027
NM_207352.4(CYP4V2):c.367A>G (p.Met123Val)	rs149684063	0.00027
NM_001364905.1(LRBA):c.3499A>G (p.Thr1167Ala)	rs146297781	0.00026
NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro)	rs139632595	0.00026
NM_016648.4(LARP7):c.320C>T (p.Thr107Ile)	rs200393300	0.00026
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser)	rs143712760	0.00026
NM_153240.5(NPHP3):c.2694-2_2694-1del	rs751527253	0.00026
NM_001363711.2(DUOX2):c.1462G>A (p.Gly488Arg)	rs191759494	0.00025
NM_001918.5(DBT):c.670G>T (p.Glu224Ter)	rs74103423	0.00025
NM_005559.4(LAMA1):c.4204C>T (p.Pro1402Ser)	rs202133880	0.00025
NR_023343.3(RNU4ATAC):n.8C>T	rs370715569	0.00025
NM_000350.3(ABCA4):c.6119G>A (p.Arg2040Gln)	rs148460146	0.00024
NM_001199799.2(ILDR1):c.772C>T (p.Gln258Ter)	rs142746163	0.00024
NM_000275.3(OCA2):c.1211C>T (p.Thr404Met)	rs144812594	0.00023
NM_000369.5(TSHR):c.1349G>A (p.Arg450His)	rs189261858	0.00023
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln)	rs121912707	0.00023
NM_002386.4(MC1R):c.515G>T (p.Ser172Ile)	rs376670171	0.00023
NM_020987.5(ANK3):c.6916A>G (p.Lys2306Glu)	rs144270555	0.00022
NM_153603.4(COG7):c.435+2T>C	rs201446992	0.00022
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp)	rs141949212	0.00021
NM_001061.7(TBXAS1):c.1235G>A (p.Arg412Gln)	rs199422117	0.00021
NM_133459.4(CCBE1):c.472C>T (p.Arg158Cys)	rs121908253	0.00021
NM_199242.3(UNC13D):c.118-308C>T	rs959968589	0.00021
NM_000277.3(PAH):c.165T>G (p.Phe55Leu)	rs199475598	0.00020
NM_003049.4(SLC10A1):c.755G>A (p.Arg252His)	rs147226818	0.00020
NM_000023.4(SGCA):c.739G>A (p.Val247Met)	rs143570936	0.00019
NM_000487.6(ARSA):c.605G>A (p.Arg202His)	rs201794808	0.00019
NM_000553.6(WRN):c.835C>T (p.Arg279Trp)	rs199923241	0.00019
NM_001017995.3(SH3PXD2B):c.2189C>T (p.Pro730Leu)	rs766153965	0.00019
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu)	rs201312386	0.00019
NM_144508.5(KNL1):c.5974G>T (p.Ala1992Ser)	rs200052077	0.00019
NM_198576.4(AGRN):c.1864C>T (p.Arg622Trp)	rs142143178	0.00019
NM_199242.3(UNC13D):c.1076G>A (p.Arg359His)	rs146611729	0.00019
NM_000159.4(GCDH):c.1213A>G (p.Met405Val)	rs141437721	0.00018
NM_000441.2(SLC26A4):c.919-2A>G	rs111033313	0.00018
NM_001367561.1(DOCK7):c.1292G>C (p.Gly431Ala)	rs201785444	0.00018
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)	rs61751392	0.00017
NM_000402.4(G6PD):c.1478G>A (p.Arg493His)	rs72554664	0.00017
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser)	rs137853096	0.00017
NM_004004.6(GJB2):c.-23+1G>A	rs80338940	0.00017
NM_015506.3(MMACHC):c.617G>A (p.Arg206Gln)	rs371753672	0.00017
NM_198576.4(AGRN):c.4061C>A (p.Thr1354Asn)	rs766470739	0.00017
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln)	rs9332964	0.00016
NM_000463.3(UGT1A1):c.1456T>G (p.Tyr486Asp)	rs34993780	0.00016
NM_001002294.3(FMO3):c.172G>A (p.Val58Ile)	rs144935285	0.00016
NM_001206744.2(TPO):c.2647C>T (p.Pro883Ser)	rs190968346	0.00016
NM_004183.4(BEST1):c.584C>T (p.Ala195Val)	rs200277476	0.00016
NM_032856.5(WDR73):c.354T>G (p.Asp118Glu)	rs201827208	0.00016
NM_000275.3(OCA2):c.2020C>G (p.Leu674Val)	rs371412500	0.00015
NM_000277.3(PAH):c.782G>A (p.Arg261Gln)	rs5030849	0.00015
NM_000433.4(NCF2):c.*97A>C	rs367946786	0.00015
NM_002016.2(FLG):c.7031C>G (p.Ser2344Ter)	rs372754256	0.00015
NM_004727.3(SLC24A1):c.754_755del (p.Met252fs)	rs777989874	0.00015
NM_017866.6(TMEM70):c.434A>G (p.Tyr145Cys)	rs111248269	0.00015
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter)	rs104894077	0.00015
NM_198576.4(AGRN):c.3958G>A (p.Gly1320Arg)	rs780180385	0.00015
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu)	rs140012781	0.00014
NM_002292.4(LAMB2):c.2432G>A (p.Arg811His)	rs201223945	0.00014
NM_183050.4(BCKDHB):c.853C>T (p.Arg285Ter)	rs398124598	0.00014
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp)	rs201725369	0.00014
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg)	rs121434274	0.00013
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser)	rs375315619	0.00013
NM_000751.3(CHRND):c.1480T>C (p.Tyr494His)	rs368695808	0.00013
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met)	rs121908102	0.00013
NM_001136193.2(FASTKD2):c.1193A>T (p.Asp398Val)	rs140778319	0.00013
NM_001379081.2(FREM1):c.4069G>A (p.Gly1357Arg)	rs775399423	0.00013
NM_005908.4(MANBA):c.1499G>A (p.Arg500His)	rs147542645	0.00013
NM_021922.3(FANCE):c.-100C>T	rs374493565	0.00013
NM_030653.4(DDX11):c.1403dup (p.Ser469fs)	rs778363138	0.00013
NM_139248.3(LIPH):c.736T>A (p.Cys246Ser)	rs201249971	0.00013
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)	rs201527662	0.00013
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)	rs61752717	0.00012
NM_000642.3(AGL):c.256C>T (p.Gln86Ter)	rs193186112	0.00012
NM_001017420.3(ESCO2):c.1493A>C (p.Lys498Thr)	rs143530690	0.00012
NM_001365088.1(SLC12A6):c.*94G>C	rs117540484	0.00012
NM_006345.4(SLC30A9):c.40del (p.Ser14fs)	rs767078182	0.00012
NM_015311.3(OBSL1):c.3980G>A (p.Arg1327Gln)	rs560822587	0.00012
NM_018714.3(COG1):c.265C>T (p.Arg89Cys)	rs766457949	0.00012
NM_018714.3(COG1):c.542C>T (p.Ala181Val)	rs534708439	0.00012
NM_176787.5(PIGN):c.1372G>A (p.Ala458Thr)	rs370794466	0.00012
NM_001354930.2(RIPK1):c.1934C>T (p.Thr645Met)	rs116040763	0.00011
NM_002529.4(NTRK1):c.1808C>G (p.Ser603Cys)	rs188270548	0.00011
NM_004407.4(DMP1):c.424G>T (p.Asp142Tyr)	rs201761802	0.00011
NM_005186.4(CAPN1):c.1605+5G>A	rs375817528	0.00011
NM_005726.6(TSFM):c.644C>T (p.Ser215Phe)	rs376562033	0.00011
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu)	rs751459058	0.00011
NM_014251.3(SLC25A13):c.1945G>C (p.Gly649Arg)	rs757317844	0.00011
NM_017825.3(ADPRS):c.1004T>G (p.Val335Gly)	rs201735454	0.00011
NM_018136.5(ASPM):c.8524C>T (p.Arg2842Trp)	rs112946633	0.00011
NM_152383.5(DIS3L2):c.1727G>A (p.Arg576His)	rs200386096	0.00011
NM_198994.3(TGM6):c.1024C>T (p.Arg342Trp)	rs150566697	0.00011
NM_000277.3(PAH):c.842C>T (p.Pro281Leu)	rs5030851	0.00010
NM_000392.5(ABCC2):c.2302C>T (p.Arg768Trp)	rs56199535	0.00010
NM_002435.3(MPI):c.748G>A (p.Gly250Ser)	rs748090636	0.00010
NM_004184.4(WARS1):c.1255G>A (p.Asp419Asn)	rs550196955	0.00010
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter)	rs546989392	0.00010
NM_021957.4(GYS2):c.1436C>A (p.Pro479Gln)	rs121918420	0.00010
NM_025074.7(FRAS1):c.2962G>A (p.Val988Met)	rs368228939	0.00010
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro)	rs201689565	0.00010
NM_198576.4(AGRN):c.183G>C (p.Gln61His)	rs951245406	0.00010
NM_000153.4(GALC):c.1586C>T (p.Thr529Met)	rs200960659	0.00009
NM_000263.4(NAGLU):c.1435G>A (p.Ala479Thr)	rs202115696	0.00009
NM_000348.4(SRD5A2):c.737G>A (p.Arg246Gln)	rs9332967	0.00009
NM_000477.7(ALB):c.725G>A (p.Arg242His)	rs75002628	0.00009
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp)	rs121909011	0.00009
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)	rs201573863	0.00009
NM_000785.4(CYP27B1):c.1286G>A (p.Arg429His)	rs568165874	0.00009
NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His)	rs121909380	0.00009
NM_001297.5(CNGB1):c.2794+1G>A	rs770011113	0.00009
NM_002905.5(RDH5):c.500G>A (p.Arg167His)	rs199877211	0.00009
NM_003060.4(SLC22A5):c.1400C>G (p.Ser467Cys)	rs60376624	0.00009
NM_003560.4(PLA2G6):c.2129G>A (p.Arg710His)	rs147455037	0.00009
NM_003560.4(PLA2G6):c.2222G>A (p.Arg741Gln)	rs121908686	0.00009
NM_003597.5(KLF11):c.1039G>T (p.Ala347Ser)	rs121912645	0.00009
NM_003690.5(PRKRA):c.665C>T (p.Pro222Leu)	rs121434410	0.00009
NM_005422.4(TECTA):c.248C>T (p.Thr83Met)	rs145898158	0.00009
NM_006118.4(HAX1):c.*47A>G	rs183456651	0.00009
NM_006397.3(RNASEH2A):c.746C>T (p.Ala249Val)	rs758719669	0.00009
NM_007103.4(NDUFV1):c.1157G>A (p.Arg386His)	rs536758576	0.00009
NM_021942.6(TRAPPC11):c.1058C>G (p.Ala353Gly)	rs200078740	0.00009
NM_032444.4(SLX4):c.*98A>G	rs551538592	0.00009
NM_133259.4(LRPPRC):c.3586G>A (p.Ala1196Thr)	rs142097048	0.00009
NM_145886.4(PIDD1):c.2042-2A>G	rs199752248	0.00009
NR_104387.1(TAF1):n.5894C>T	rs397509359	0.00009
NM_000017.4(ACADS):c.136C>T (p.Arg46Trp)	rs121908003	0.00008
NM_000152.5(GAA):c.761C>T (p.Ser254Leu)	rs577915581	0.00008
NM_000329.3(RPE65):c.242G>T (p.Arg81Ile)	rs1429137932	0.00008
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys)	rs61750200	0.00008
NM_001003722.2(GLE1):c.54C>G (p.Asp18Glu)	rs549769200	0.00008
NM_001382391.1(CSPP1):c.814C>T (p.Arg272Trp)	rs756423026	0.00008
NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter)	rs376161880	0.00008
NM_000046.5(ARSB):c.475C>T (p.Arg159Cys)	rs202134230	0.00007
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile)	rs28940578	0.00007
NM_000293.3(PHKB):c.1127-2A>G	rs535749057	0.00007
NM_000350.3(ABCA4):c.4610C>T (p.Thr1537Met)	rs62642575	0.00007
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr)	rs749909863	0.00007
NM_001382391.1(CSPP1):c.5C>T (p.Ala2Val)	rs553988238	0.00007
NM_001849.4(COL6A2):c.1970-9G>A	rs747900252	0.00007
NM_003119.4(SPG7):c.2083C>G (p.Leu695Val)	rs754203248	0.00007
NM_003748.4(ALDH4A1):c.490G>C (p.Ala164Pro)	rs369957092	0.00007
NM_006031.6(PCNT):c.5647C>T (p.Arg1883Trp)	rs746468689	0.00007
NM_015202.5(KATNIP):c.49C>T (p.Arg17Ter)	rs142375551	0.00007
NM_015937.6(PIGT):c.1582G>A (p.Val528Met)	rs771157170	0.00007
NM_019023.5(PRMT7):c.499G>A (p.Val167Met)	rs138763605	0.00007
NM_020376.4(PNPLA2):c.326A>G (p.His109Arg)	rs200683247	0.00007
NM_020806.5(GPHN):c.86A>G (p.Asn29Ser)	rs144247888	0.00007
NM_152443.3(RDH12):c.806C>G (p.Ala269Gly)	rs116802390	0.00007
NM_174936.4(PCSK9):c.94G>A (p.Glu32Lys)	rs564427867	0.00007
NM_182894.3(VSX2):c.862C>T (p.Arg288Trp)	rs76055170	0.00007
NC_000021.9:g.45405398C>T	rs754075778	0.00006
NM_000153.4(GALC):c.136G>T (p.Asp46Tyr)	rs751975987	0.00006
NM_000183.3(HADHB):c.397A>G (p.Thr133Ala)	rs371159065	0.00006
NM_000335.5(SCN5A):c.955G>A (p.Gly319Ser)	rs199473090	0.00006
NM_000517.4(HBA2):c.427T>C (p.Ter143Gln)	rs41464951	0.00006
NM_001083961.2(WDR62):c.2972A>T (p.Asp991Val)	rs749528768	0.00006
NM_001127671.2(LIFR):c.2284T>C (p.Tyr762His)	rs200270315	0.00006
NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter)	rs137853190	0.00006
NM_001365999.1(SZT2):c.4370T>A (p.Phe1457Tyr)	rs147201727	0.00006
NM_002168.4(IDH2):c.419G>A (p.Arg140Gln)	rs121913502	0.00006
NM_003359.4(UGDH):c.950G>A (p.Arg317Gln)	rs775162839	0.00006
NM_003849.4(SUCLG1):c.116G>A (p.Arg39Gln)	rs372512876	0.00006
NM_006204.4(PDE6C):c.85C>T (p.Arg29Trp)	rs121918537	0.00006
NM_016180.5(SLC45A2):c.1082T>C (p.Leu361Pro)	rs121912619	0.00006
NM_018669.6(WDR4):c.266G>A (p.Arg89His)	rs751142345	0.00006
NM_019616.4(F7):c.845C>T (p.Ala282Val)	rs121964931	0.00006
NM_024996.7(GFM1):c.2011C>T (p.Arg671Cys)	rs201408725	0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)	rs137852832	0.00006
NM_138413.4(HOGA1):c.834G>A (p.Ala278=)	rs770050262	0.00006
NM_153676.4(USH1C):c.308G>A (p.Arg103His)	rs397514500	0.00006
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His)	rs527236139	0.00006
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr)	rs121912599	0.00006
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)	rs587782652	0.00005
NM_000053.4(ATP7B):c.1285+5G>T	rs370579582	0.00005
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly)	rs200379491	0.00005
NM_000256.3(MYBPC3):c.1224-80G>A	rs1025692267	0.00005
NM_000258.3(MYL3):c.466G>A (p.Val156Met)	rs199474707	0.00005
NM_000277.3(PAH):c.350C>T (p.Thr117Ile)	rs281865439	0.00005
NM_000310.4(PPT1):c.413C>T (p.Ser138Leu)	rs386833646	0.00005
NM_000341.4(SLC3A1):c.1093C>T (p.Arg365Trp)	rs765828196	0.00005
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)	rs111033256	0.00005
NM_000488.4(SERPINC1):c.235C>T (p.Arg79Cys)	rs121909547	0.00005
NM_000520.6(HEXA):c.533G>A (p.Arg178His)	rs28941770	0.00005
NM_001242882.2(NAXD):c.922C>T (p.Arg308Cys)	rs767778853	0.00005
NM_002016.2(FLG):c.7487del (p.Thr2496fs)	rs774362740	0.00005
NM_002076.4(GNS):c.1594C>G (p.Pro532Ala)	rs202228620	0.00005
NM_002076.4(GNS):c.791C>T (p.Thr264Met)	rs575544204	0.00005
NM_003922.4(HERC1):c.10925T>C (p.Met3642Thr)	rs568826186	0.00005
NM_004153.4(ORC1):c.608C>T (p.Thr203Ile)	rs202095223	0.00005
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr)	rs121964954	0.00005
NM_015466.4(PTPN23):c.2747A>G (p.Gln916Arg)	rs770692989	0.00005
NM_018116.4(MSTO1):c.22G>A (p.Val8Met)	rs762798018	0.00005
NM_022124.6(CDH23):c.4562A>G (p.Asn1521Ser)	rs780987516	0.00005
NM_024417.5(FDXR):c.916C>T (p.Arg306Cys)	rs752143061	0.00005
NM_024876.4(COQ8B):c.737G>A (p.Ser246Asn)	rs200841458	0.00005
NM_025103.4(IFT74):c.1685-1G>T	rs200699377	0.00005
NM_025137.4(SPG11):c.733_734del (p.Met245fs)	rs312262720	0.00005
NM_138477.4(CDAN1):c.548C>T (p.Ser183Leu)	rs370757859	0.00005
NM_198576.4(AGRN):c.6022G>A (p.Ala2008Thr)	rs766962416	0.00005
NM_000046.5(ARSB):c.455G>A (p.Arg152Gln)	rs776814144	0.00004
NM_000051.4(ATM):c.1402_1403del (p.Lys468fs)	rs587781347	0.00004
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg)	rs569681869	0.00004
NM_000111.3(SLC26A3):c.2063-1G>T	rs386833471	0.00004
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln)	rs372254398	0.00004
NM_000143.4(FH):c.580G>A (p.Ala194Thr)	rs587782215	0.00004
NM_000153.4(GALC):c.1592G>A (p.Arg531His)	rs200378205	0.00004
NM_000169.3(GLA):c.196G>C (p.Glu66Gln)	rs104894833	0.00004
NM_000175.5(GPI):c.671C>T (p.Thr224Met)	rs61754634	0.00004
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys)	rs397516074	0.00004
NM_000257.4(MYH7):c.1988G>A (p.Arg663His)	rs371898076	0.00004
NM_000275.3(OCA2):c.2360C>T (p.Ala787Val)	rs200457227	0.00004
NM_000400.4(ERCC2):c.442C>T (p.His148Tyr)	rs201382232	0.00004
NM_000440.3(PDE6A):c.305G>A (p.Arg102His)	rs750539462	0.00004
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg)	rs121908362	0.00004
NM_000497.4(CYP11B1):c.956C>T (p.Thr319Met)	rs104894068	0.00004
NM_000642.3(AGL):c.1933A>G (p.Thr645Ala)	rs576969969	0.00004
NM_001034116.2(EIF2B4):c.1399C>T (p.Arg467Trp)	rs138249238	0.00004
NM_001048166.1(STIL):c.3061C>T (p.His1021Tyr)	rs199558457	0.00004
NM_001048166.1(STIL):c.3839G>A (p.Arg1280His)	rs372680224	0.00004
NM_001080.3(ALDH5A1):c.589G>A (p.Val197Met)	rs768219929	0.00004
NM_001126108.2(SLC12A3):c.248G>A (p.Arg83Gln)	rs768527231	0.00004
NM_001164508.2(NEB):c.21417+3A>G	rs148950085	0.00004
NM_001171.6(ABCC6):c.4069C>T (p.Arg1357Trp)	rs63750428	0.00004
NM_001291303.3(FAT4):c.4228G>A (p.Val1410Met)	rs781736766	0.00004
NM_001379270.1(CNGA1):c.253del (p.Leu85fs)	rs749012133	0.00004
NM_001395413.1(POR):c.1361G>A (p.Arg454His)	rs28931608	0.00004
NM_002016.2(FLG):c.10969C>T (p.Arg3657Ter)	rs749083759	0.00004
NM_003480.4(MFAP5):c.472C>T (p.Arg158Ter)	rs727502791	0.00004
NM_003632.3(CNTNAP1):c.3239C>T (p.Thr1080Met)	rs372272058	0.00004
NM_004722.4(AP4M1):c.1012C>T (p.Arg338Ter)	rs146262009	0.00004
NM_006118.4(HAX1):c.724C>T (p.Arg242Ter)	rs760377093	0.00004
NM_006302.3(MOGS):c.721C>T (p.Arg241Cys)	rs745844848	0.00004
NM_015937.6(PIGT):c.1342C>T (p.Arg448Trp)	rs527236031	0.00004
NM_016341.4(PLCE1):c.1180C>T (p.Arg394Cys)	rs761213168	0.00004
NM_016341.4(PLCE1):c.1496G>A (p.Arg499His)	rs757336023	0.00004
NM_016343.4(CENPF):c.6214T>C (p.Ser2072Pro)	rs3748694	0.00004
NM_018116.4(MSTO1):c.971C>T (p.Thr324Ile)	rs622288	0.00004
NM_018389.5(SLC35C1):c.29G>A (p.Arg10Lys)	rs567155861	0.00004
NM_018418.5(SPATA7):c.386C>T (p.Pro129Leu)	rs374126653	0.00004
NM_019109.5(ALG1):c.560G>A (p.Arg187His)	rs377600706	0.00004
NM_020451.3(SELENON):c.1574T>G (p.Met525Arg)	rs761631813	0.00004
NM_021942.6(TRAPPC11):c.1287+5G>A	rs397509418	0.00004
NM_024596.5(MCPH1):c.2221C>T (p.Arg741Ter)	rs374596700	0.00004
NM_031885.5(BBS2):c.534+1G>T	rs773862084	0.00004
NM_139057.4(ADAMTS17):c.22C>T (p.Pro8Ser)	rs770794109	0.00004
NM_145691.4(ATPAF2):c.133+1G>T	rs147941728	0.00004
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile)	rs28940315	0.00004
NM_153766.3(KCNJ1):c.601C>T (p.Leu201Phe)	rs200320892	0.00004
NM_173660.5(DOK7):c.1318G>A (p.Ala440Thr)	rs753026831	0.00004
NM_207361.6(FREM2):c.2129G>A (p.Arg710His)	rs372166899	0.00004
NM_000045.4(ARG1):c.871C>T (p.Arg291Ter)	rs104893940	0.00003
NM_000049.4(ASPA):c.79G>A (p.Gly27Arg)	rs766328537	0.00003
NM_000051.4(ATM):c.2250G>A (p.Lys750=)	rs1137887	0.00003
NM_000092.5(COL4A4):c.4394G>A (p.Gly1465Asp)	rs533297350	0.00003
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys)	rs770610356	0.00003
NM_000153.4(GALC):c.1186C>T (p.Arg396Trp)	rs770485731	0.00003
NM_000159.4(GCDH):c.1148G>A (p.Arg383His)	rs764608975	0.00003
NM_000159.4(GCDH):c.743C>T (p.Pro248Leu)	rs1057516344	0.00003
NM_000170.3(GLDC):c.1009C>T (p.Arg337Ter)	rs386833517	0.00003
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln)	rs397515907	0.00003
NM_000257.4(MYH7):c.1324C>T (p.Arg442Cys)	rs148808089	0.00003
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)	rs3218716	0.00003
NM_000257.4(MYH7):c.3133C>T (p.Arg1045Cys)	rs45611033	0.00003
NM_000257.4(MYH7):c.611G>A (p.Arg204His)	rs397516260	0.00003
NM_000275.3(OCA2):c.1349C>T (p.Thr450Met)	rs772019064	0.00003
NM_000277.3(PAH):c.516G>T (p.Gln172His)	rs192592111	0.00003
NM_000350.3(ABCA4):c.4328G>A (p.Arg1443His)	rs61750142	0.00003
NM_000392.5(ABCC2):c.1177C>T (p.Arg393Trp)	rs777902199	0.00003
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr)	rs5030869	0.00003
NM_000441.2(SLC26A4):c.1262A>C (p.Gln421Pro)	rs201660407	0.00003
NM_000452.3(SLC10A2):c.318C>A (p.Cys106Ter)	rs370438426	0.00003
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu)	rs193922501	0.00003
NM_000549.5(TSHB):c.205C>T (p.Gln69Ter)	rs121918670	0.00003
NM_000709.4(BCKDHA):c.890G>A (p.Arg297His)	rs200137189	0.00003
NM_001017979.3(RAB28):c.68C>T (p.Ser23Phe)	rs769199865	0.00003
NM_001080510.5(METTL23):c.470_471del (p.Leu157fs)	rs760933323	0.00003
NM_001081.4(CUBN):c.6095G>A (p.Cys2032Tyr)	rs201720797	0.00003
NM_001082971.2(DDC):c.823G>A (p.Ala275Thr)	rs137853212	0.00003
NM_001126108.2(SLC12A3):c.539C>A (p.Thr180Lys)	rs146158333	0.00003
NM_001142800.2(EYS):c.7394C>G (p.Thr2465Ser)	rs145184183	0.00003
NM_001170535.3(ATAD3A):c.283-45G>A	rs780466539	0.00003
NM_001171.6(ABCC6):c.1256G>A (p.Arg419Gln)	rs772434460	0.00003
NM_001283009.2(RTEL1):c.2869C>T (p.Arg957Trp)	rs398123018	0.00003
NM_001297.5(CNGB1):c.2893-7G>A	rs749199721	0.00003
NM_001353214.3(DYM):c.208C>T (p.Arg70Ter)	rs768509996	0.00003
NM_001370658.1(BTD):c.535G>A (p.Val179Met)	rs397514375	0.00003
NM_001611.5(ACP5):c.325G>A (p.Gly109Arg)	rs781050795	0.00003
NM_002225.5(IVD):c.1175G>A (p.Arg392His)	rs982218848	0.00003
NM_002435.3(MPI):c.1193T>C (p.Ile398Thr)	rs369326210	0.00003
NM_002860.4(ALDH18A1):c.2177G>A (p.Arg726His)	rs773714478	0.00003
NM_003322.6(TULP1):c.1495+1G>A	rs281865168	0.00003
NM_003690.5(PRKRA):c.638G>T (p.Cys213Phe)	rs752452731	0.00003
NM_004004.6(GJB2):c.550C>T (p.Arg184Trp)	rs998045226	0.00003
NM_005559.4(LAMA1):c.4555G>C (p.Gly1519Arg)	rs747710308	0.00003
NM_006397.3(RNASEH2A):c.556C>T (p.Arg186Trp)	rs77103971	0.00003
NM_006759.4(UGP2):c.34A>G (p.Met12Val)	rs768305634	0.00003
NM_014140.4(SMARCAL1):c.2534T>A (p.Leu845Gln)	rs372298863	0.00003
NM_015465.5(GEMIN5):c.4496dup (p.Tyr1499Ter)	rs868028669	0.00003
NM_015466.4(PTPN23):c.2680C>T (p.His894Tyr)	rs967738491	0.00003
NM_015959.4(TMX2):c.614G>A (p.Arg205Gln)	rs370455806	0.00003
NM_016122.3(CEP83):c.1048+6A>G	rs562683007	0.00003
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser)	rs764571295	0.00003
NM_018136.5(ASPM):c.9553G>C (p.Ala3185Pro)	rs375985254	0.00003
NM_018192.4(P3H2):c.1213C>T (p.Arg405Ter)	rs377600857	0.00003
NM_018359.5(UFSP2):c.344T>A (p.Val115Glu)	rs142500730	0.00003
NM_019023.5(PRMT7):c.1490G>A (p.Arg497Gln)	rs753756119	0.00003
NM_019109.5(ALG1):c.826C>T (p.Arg276Trp)	rs151173406	0.00003
NM_020987.5(ANK3):c.6695G>A (p.Arg2232Gln)	rs770107349	0.00003
NM_022168.4(IFIH1):c.2465G>A (p.Arg822Gln)	rs376048533	0.00003
NM_024120.5(NDUFAF5):c.617C>T (p.Thr206Met)	rs141758325	0.00003
NM_024334.3(TMEM43):c.1114C>T (p.Arg372Ter)	rs773224617	0.00003
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln)	rs376894444	0.00003
NM_024809.5(TCTN2):c.271G>T (p.Val91Leu)	rs371662397	0.00003
NM_032756.4(HPDL):c.3G>C (p.Met1Ile)	rs777607274	0.00003
NM_033641.4(COL4A6):c.1768G>A (p.Gly590Ser)	rs779748859	0.00003
NM_054012.4(ASS1):c.970G>A (p.Gly324Ser)	rs121908639	0.00003
NM_138425.4(C12orf57):c.1A>G (p.Met1Val)	rs587776954	0.00003
NM_138694.4(PKHD1):c.1123C>T (p.Arg375Trp)	rs376040501	0.00003
NM_138694.4(PKHD1):c.11611T>C (p.Trp3871Arg)	rs754626014	0.00003
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala)	rs199568593	0.00003
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter)	rs181208607	0.00003
NM_139057.4(ADAMTS17):c.233A>G (p.Glu78Gly)	rs886050980	0.00003
NM_139248.3(LIPH):c.742C>A (p.His248Asn)	rs201868115	0.00003
NM_152328.5(ADSS1):c.781G>A (p.Asp261Asn)	rs140614802	0.00003
NM_152416.4(NDUFAF6):c.532G>C (p.Ala178Pro)	rs201088736	0.00003
NM_152443.3(RDH12):c.697G>C (p.Val233Leu)	rs140257538	0.00003
NM_198239.2(CCN6):c.156C>A (p.Cys52Ter)	rs121908901	0.00003
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met)	rs28939720	0.00003
NM_206933.4(USH2A):c.1000C>T (p.Arg334Trp)	rs397517963	0.00003
NM_207361.6(FREM2):c.6614A>G (p.Asp2205Gly)	rs771744013	0.00003
NM_000022.4(ADA):c.454C>A (p.Leu152Met)	rs121908728	0.00002
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys)	rs587782292	0.00002
NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln)	rs121434544	0.00002
NM_000128.4(F11):c.682C>T (p.Arg228Ter)	rs752907087	0.00002
NM_000135.4(FANCA):c.3971C>T (p.Pro1324Leu)	rs182657062	0.00002
NM_000137.4(FAH):c.1210G>A (p.Gly404Ser)	rs1297118863	0.00002
NM_000151.4(G6PC1):c.365G>A (p.Gly122Asp)	rs759982943	0.00002
NM_000151.4(G6PC1):c.648G>T (p.Leu216=)	rs80356484	0.00002
NM_000151.4(G6PC1):c.809G>T (p.Gly270Val)	rs80356483	0.00002
NM_000152.5(GAA):c.1316T>A (p.Met439Lys)	rs747610090	0.00002
NM_000152.5(GAA):c.317G>A (p.Arg106His)	rs772534106	0.00002
NM_000159.4(GCDH):c.938G>A (p.Arg313Gln)	rs746220312	0.00002
NM_000191.3(HMGCL):c.493C>T (p.Arg165Trp)	rs764039230	0.00002
NM_000199.5(SGSH):c.1040C>T (p.Ser347Phe)	rs780239925	0.00002
NM_000256.3(MYBPC3):c.1224-52G>A	rs786204336	0.00002
NM_000256.3(MYBPC3):c.3190+5G>A	rs587782958	0.00002
NM_000257.4(MYH7):c.2348G>A (p.Arg783His)	rs397516142	0.00002
NM_000260.4(MYO7A):c.6487G>A (p.Gly2163Ser)	rs747656448	0.00002
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp)	rs104894526	0.00002
NM_000352.6(ABCC8):c.1501G>A (p.Glu501Lys)	rs372307320	0.00002
NM_000359.3(TGM1):c.967C>T (p.Arg323Trp)	rs771820315	0.00002
NM_000360.4(TH):c.1388C>T (p.Thr463Met)	rs45471299	0.00002
NM_000360.4(TH):c.364C>T (p.Arg122Ter)	rs771610752	0.00002
NM_000481.4(AMT):c.794G>A (p.Arg265His)	rs757918826	0.00002
NM_000486.6(AQP2):c.374C>T (p.Thr125Met)	rs104894333	0.00002
NM_000512.5(GALNS):c.452C>T (p.Pro151Leu)	rs559063128	0.00002
NM_000527.5(LDLR):c.1187-10G>A	rs765696008	0.00002
NM_000527.5(LDLR):c.1999T>C (p.Cys667Arg)	rs150021927	0.00002
NM_000527.5(LDLR):c.949G>A (p.Glu317Lys)	rs746834464	0.00002
NM_000528.4(MAN2B1):c.2867T>G (p.Leu956Arg)	rs768233248	0.00002
NM_000532.5(PCCB):c.449C>T (p.Thr150Met)	rs372770908	0.00002
NM_000538.4(RFXAP):c.127C>T (p.Gln43Ter)	rs1313207845	0.00002
NM_000546.6(TP53):c.523C>T (p.Arg175Cys)	rs138729528	0.00002
NM_000546.6(TP53):c.743G>A (p.Arg248Gln)	rs11540652	0.00002
NM_000553.6(WRN):c.3893G>T (p.Gly1298Val)	rs202129203	0.00002
NM_001035.3(RYR2):c.8018C>T (p.Ala2673Val)	rs869025513	0.00002
NM_001142800.2(EYS):c.2528G>A (p.Gly843Glu)	rs74419361	0.00002
NM_001271938.2(MEGF8):c.7184C>T (p.Thr2395Met)	rs758007485	0.00002
NM_001297.5(CNGB1):c.217+5G>C	rs527236060	0.00002
NM_001365276.2(TNXB):c.2461C>T (p.Arg821Ter)	rs749890642	0.00002
NM_001376571.1(MADD):c.2851A>G (p.Ser951Gly)	rs780548837	0.00002
NM_001384474.1(LOXHD1):c.4212+1G>A	rs889110926	0.00002
NM_001384732.1(CPLANE1):c.1465G>T (p.Val489Phe)	rs372187548	0.00002
NM_002292.4(LAMB2):c.2296G>A (p.Ala766Thr)	rs763101025	0.00002
NM_002860.4(ALDH18A1):c.2294G>A (p.Arg765Gln)	rs537043237	0.00002
NM_003322.6(TULP1):c.1199G>A (p.Arg400Gln)	rs748972748	0.00002
NM_003849.4(SUCLG1):c.548T>C (p.Ile183Thr)	rs140626260	0.00002
NM_004092.4(ECHS1):c.817A>G (p.Lys273Glu)	rs565090080	0.00002
NM_004183.4(BEST1):c.140G>A (p.Arg47His)	rs28940278	0.00002
NM_004415.4(DSP):c.1493C>T (p.Pro498Leu)	rs761051181	0.00002
NM_004646.4(NPHS1):c.1379G>A (p.Arg460Gln)	rs386833880	0.00002
NM_004646.4(NPHS1):c.2464G>A (p.Val822Met)	rs267606918	0.00002
NM_005677.4(COLQ):c.1228C>T (p.Arg410Trp)	rs139574075	0.00002
NM_006019.4(TCIRG1):c.117+1G>A	rs377303800	0.00002
NM_006346.4(PIBF1):c.1508A>G (p.Tyr503Cys)	rs144610914	0.00002
NM_012079.6(DGAT1):c.1183C>T (p.Arg395Ter)	rs372817613	0.00002
NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter)	rs750732115	0.00002
NM_015978.3(TNNI3K):c.2302G>A (p.Glu768Lys)	rs202238194	0.00002
NM_017882.3(CLN6):c.307C>T (p.Arg103Trp)	rs201095412	0.00002
NM_020320.5(RARS2):c.1327T>C (p.Ser443Pro)	rs775295739	0.00002
NM_020686.6(ABAT):c.561G>C (p.Arg187Ser)	rs141279192	0.00002
NM_022089.4(ATP13A2):c.1099G>A (p.Glu367Lys)	rs770576740	0.00002
NM_024417.5(FDXR):c.221C>T (p.Pro74Leu)	rs746953590	0.00002
NM_024577.4(SH3TC2):c.1969G>A (p.Glu657Lys)	rs80338925	0.00002
NM_033028.5(BBS4):c.1439C>T (p.Thr480Met)	rs754792792	0.00002
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln)	rs104886308	0.00002
NM_033629.6(TREX1):c.667G>A (p.Ala223Thr)	rs766785968	0.00002
NM_054012.4(ASS1):c.836G>A (p.Arg279Gln)	rs371265106	0.00002
NM_057176.3(BSND):c.35T>C (p.Ile12Thr)	rs121908144	0.00002
NM_144773.4(PROKR2):c.563C>T (p.Ser188Leu)	rs376239580	0.00002
NM_145649.5(GCNT2):c.1154G>A (p.Arg385His)	rs55940927	0.00002
NM_152416.4(NDUFAF6):c.420+784C>T	rs749738738	0.00002
NM_152419.3(HGSNAT):c.370A>T (p.Arg124Trp)	rs754875934	0.00002
NM_152564.5(VPS13B):c.1193C>T (p.Thr398Met)	rs753703762	0.00002
NM_170784.3(MKKS):c.1085A>G (p.His362Arg)	rs373858682	0.00002
NM_172240.3(POC1B):c.101-3T>G	rs750116711	0.00002
NM_176787.5(PIGN):c.283C>T (p.Arg95Trp)	rs558341655	0.00002
NM_176787.5(PIGN):c.284G>A (p.Arg95Gln)	rs374704368	0.00002
NM_176787.5(PIGN):c.963G>A (p.Gln321=)	rs587777187	0.00002
NM_203446.3(SYNJ1):c.3520C>T (p.Arg1174Cys)	rs1367145848	0.00002
NM_206933.4(USH2A):c.13112_13115del (p.Gln4371fs)	rs768161313	0.00002
NM_206933.4(USH2A):c.2187C>A (p.Cys729Ter)	rs757154662	0.00002
NM_206933.4(USH2A):c.5329C>T (p.Arg1777Trp)	rs770329105	0.00002
NM_207361.6(FREM2):c.3296A>G (p.Asn1099Ser)	rs374360439	0.00002
NM_000018.4(ACADVL):c.1534C>T (p.Arg512Trp)	rs371316167	0.00001
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser)	rs545215807	0.00001
NM_000026.4(ADSL):c.71C>T (p.Pro24Leu)	rs1257907226	0.00001
NM_000033.4(ABCD1):c.1261G>A (p.Glu421Lys)	rs1255903649	0.00001
NM_000041.4(APOE):c.127C>T (p.Arg43Cys)	rs121918399	0.00001
NM_000045.4(ARG1):c.425G>A (p.Gly142Glu)	rs767219084	0.00001
NM_000048.4(ASL):c.707G>A (p.Arg236Gln)	rs764602422	0.00001
NM_000051.4(ATM):c.1339C>T (p.Arg447Ter)	rs587779815	0.00001
NM_000051.4(ATM):c.5644C>T (p.Arg1882Ter)	rs786204433	0.00001
NM_000052.7(ATP7A):c.1286A>G (p.Glu429Gly)	rs2077660217	0.00001
NM_000053.4(ATP7B):c.2293G>A (p.Asp765Asn)	rs28942075	0.00001
NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser)	rs786204547	0.00001
NM_000070.3(CAPN3):c.2105C>T (p.Ala702Val)	rs886042557	0.00001
NM_000070.3(CAPN3):c.379+3A>G	rs1164215001	0.00001
NM_000083.3(CLCN1):c.1471+1G>A	rs375596425	0.00001
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln)	rs80356702	0.00001
NM_000091.5(COL4A3):c.1927G>A (p.Gly643Ser)	rs778034451	0.00001
NM_000091.5(COL4A3):c.765G>A (p.Thr255=)	rs869025328	0.00001
NM_000137.4(FAH):c.697G>A (p.Asp233Asn)	rs144902834	0.00001
NM_000143.4(FH):c.1048C>T (p.Arg350Trp)	rs755436052	0.00001
NM_000151.4(G6PC1):c.500G>A (p.Cys167Tyr)	rs777552825	0.00001
NM_000151.4(G6PC1):c.533C>T (p.Pro178Leu)	rs768803329	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.2174G>A (p.Arg725Gln)	rs577042191	0.00001
NM_000153.4(GALC):c.908C>T (p.Ser303Phe)	rs756352952	0.00001
NM_000159.4(GCDH):c.368A>G (p.Tyr123Cys)	rs780976048	0.00001
NM_000159.4(GCDH):c.383G>A (p.Arg128Gln)	rs755586631	0.00001
NM_000162.5(GCK):c.571C>T (p.Arg191Trp)	rs1085307455	0.00001
NM_000163.5(GHR):c.508G>C (p.Asp170His)	rs121909366	0.00001
NM_000163.5(GHR):c.618+792A>G	rs1011727375	0.00001
NM_000163.5(GHR):c.723C>T (p.Gly241=)	rs1260870046	0.00001
NM_000170.3(GLDC):c.1117C>T (p.Arg373Trp)	rs150171524	0.00001
NM_000181.4(GUSB):c.170G>T (p.Arg57Leu)	rs769252159	0.00001
NM_000196.4(HSD11B2):c.622C>T (p.Arg208Cys)	rs121917780	0.00001
NM_000198.4(HSD3B2):c.776C>T (p.Thr259Met)	rs80358221	0.00001
NM_000199.5(SGSH):c.449G>A (p.Arg150Gln)	rs104894638	0.00001
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro)	rs121965027	0.00001
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro)	rs794726878	0.00001
NM_000218.3(KCNQ1):c.691C>T (p.Arg231Cys)	rs199473457	0.00001
NM_000228.3(LAMB3):c.298+5G>C	rs754529975	0.00001
NM_000232.5(SGCB):c.346A>G (p.Met116Val)	rs752168132	0.00001
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys)	rs121913625	0.00001
NM_000257.4(MYH7):c.2555T>C (p.Met852Thr)	rs397516157	0.00001
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys)	rs138049878	0.00001
NM_000257.4(MYH7):c.427C>T (p.Arg143Trp)	rs727503278	0.00001
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln)	rs397516209	0.00001
NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro)	rs782063761	0.00001
NM_000260.4(MYO7A):c.487G>A (p.Gly163Arg)	rs1472566324	0.00001
NM_000263.4(NAGLU):c.1444C>T (p.Arg482Trp)	rs104894596	0.00001
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn)	rs1052471595	0.00001
NM_000274.4(OAT):c.722C>T (p.Pro241Leu)	rs121965051	0.00001
NM_000275.3(OCA2):c.1001C>T (p.Ala334Val)	rs121918168	0.00001
NM_000275.3(OCA2):c.1182G>A (p.Met394Ile)	rs121918171	0.00001
NM_000277.3(PAH):c.1184C>G (p.Ala395Gly)	rs62508736	0.00001
NM_000277.3(PAH):c.755G>A (p.Arg252Gln)	rs62644503	0.00001
NM_000277.3(PAH):c.889C>T (p.Arg297Cys)	rs62642945	0.00001
NM_000284.4(PDHA1):c.379C>T (p.Arg127Trp)	rs199959402	0.00001
NM_000287.4(PEX6):c.1801C>T (p.Arg601Trp)	rs61753225	0.00001
NM_000293.3(PHKB):c.2014C>T (p.Arg672Ter)	rs1273669177	0.00001
NM_000297.4(PKD2):c.965G>A (p.Arg322Gln)	rs145877597	0.00001
NM_000303.3(PMM2):c.178G>T (p.Val60Leu)	rs759513930	0.00001
NM_000303.3(PMM2):c.580C>T (p.Arg194Ter)	rs199562225	0.00001
NM_000312.4(PROC):c.631C>T (p.Arg211Trp)	rs121918143	0.00001
NM_000317.3(PTS):c.155A>G (p.Asn52Ser)	rs104894275	0.00001
NM_000326.5(RLBP1):c.452G>A (p.Arg151Gln)	rs137853290	0.00001
NM_000340.2(SLC2A2):c.1250C>T (p.Pro417Leu)	rs121909744	0.00001
NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys)	rs61749420	0.00001
NM_000350.3(ABCA4):c.3352C>T (p.His1118Tyr)	rs369440533	0.00001
NM_000350.3(ABCA4):c.4926C>G (p.Ser1642Arg)	rs61753017	0.00001
NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter)	rs61753038	0.00001
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter)	rs61753046	0.00001
NM_000352.6(ABCC8):c.946G>A (p.Gly316Arg)	rs1201126343	0.00001
NM_000359.3(TGM1):c.2290C>T (p.Arg764Cys)	rs201853046	0.00001
NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln)	rs397516349	0.00001
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln)	rs397516354	0.00001
NM_000404.4(GLB1):c.2012A>G (p.Asp671Gly)	rs1696330609	0.00001
NM_000426.4(LAMA2):c.6955C>T (p.Arg2319Ter)	rs398123383	0.00001
NM_000435.3(NOTCH3):c.3226C>T (p.Arg1076Cys)	rs1438626607	0.00001
NM_000440.3(PDE6A):c.1407+1G>C	rs781616522	0.00001
NM_000440.3(PDE6A):c.2302G>T (p.Glu768Ter)	rs759563967	0.00001
NM_000441.2(SLC26A4):c.1803G>A (p.Lys601=)	rs760352870	0.00001
NM_000441.2(SLC26A4):c.439A>G (p.Met147Val)	rs760413427	0.00001
NM_000443.4(ABCB4):c.2177C>T (p.Pro726Leu)	rs141677867	0.00001
NM_000453.3(SLC5A5):c.1546C>T (p.Arg516Ter)	rs371248346	0.00001
NM_000481.4(AMT):c.496C>T (p.Gln166Ter)	rs558998633	0.00001
NM_000481.4(AMT):c.958C>T (p.Arg320Cys)	rs866625610	0.00001
NM_000487.6(ARSA):c.1174C>T (p.Arg392Trp)	rs74315480	0.00001
NM_000487.6(ARSA):c.338T>C (p.Leu113Pro)	rs777431148	0.00001
NM_000487.6(ARSA):c.449C>T (p.Pro150Leu)	rs199476375	0.00001
NM_000497.4(CYP11B1):c.1269T>G (p.Tyr423Ter)	rs267606755	0.00001
NM_000500.9(CYP21A2):c.710T>A (p.Ile237Asn)	rs1554299737	0.00001
NM_000500.9(CYP21A2):c.713T>A (p.Val238Glu)	rs12530380	0.00001
NM_000508.3(FGA):c.103C>T (p.Arg35Cys)	rs121909606	0.00001
NM_000512.5(GALNS):c.107T>G (p.Leu36Arg)	rs755832705	0.00001
NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys)	rs28942071	0.00001
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp)	rs121907972	0.00001
NM_000521.4(HEXB):c.1242G>A (p.Lys414=)	rs1309123671	0.00001
NM_000521.4(HEXB):c.1614-16_1622dup	rs756912360	0.00001
NM_000527.4(LDLR):c.313+1G>A	rs112029328	0.00001
NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr)	rs193922566	0.00001
NM_000527.5(LDLR):c.1195G>A (p.Ala399Thr)	rs730882099	0.00001
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)	rs28942078	0.00001
NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn)	rs730882110	0.00001
NM_000527.5(LDLR):c.898A>G (p.Arg300Gly)	rs767618089	0.00001
NM_000532.5(PCCB):c.1301C>T (p.Ala434Val)	rs751538672	0.00001
NM_000532.5(PCCB):c.1316A>G (p.Tyr439Cys)	rs769521436	0.00001
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu)	rs29001566	0.00001
NM_000540.3(RYR1):c.7063C>T (p.Arg2355Trp)	rs193922803	0.00001
NM_000554.6(CRX):c.122G>A (p.Arg41Gln)	rs61748436	0.00001
NM_000642.3(AGL):c.100C>T (p.Arg34Ter)	rs781580050	0.00001
NM_000642.3(AGL):c.1027C>T (p.Arg343Trp)	rs1131691438	0.00001
NM_000642.3(AGL):c.1078C>T (p.His360Tyr)	rs763554006	0.00001
NM_000709.4(BCKDHA):c.1094G>A (p.Arg365Gln)	rs375957868	0.00001
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln)	rs121908099	0.00001
NM_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala)	rs200883871	0.00001
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp)	rs121908098	0.00001
NM_001003841.3(SLC6A19):c.908C>T (p.Ser303Leu)	rs201212000	0.00001
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser)	rs199476100	0.00001
NM_001042432.2(CLN3):c.379C>T (p.Arg127Trp)	rs201168980	0.00001
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter)	rs760703505	0.00001
NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr)	rs119462987	0.00001
NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro)	rs119462982	0.00001
NM_001080.3(ALDH5A1):c.1226G>A (p.Gly409Asp)	rs118203984	0.00001
NM_001080.3(ALDH5A1):c.1321G>A (p.Gly441Arg)	rs1041467895	0.00001
NM_001081.4(CUBN):c.6821+3A>G	rs767078847	0.00001
NM_001110792.2(MECP2):c.289C>T (p.Arg97Cys)	rs1064797047	0.00001
NM_001126108.2(SLC12A3):c.2546T>A (p.Leu849His)	rs185927948	0.00001
NM_001130987.2(DYSF):c.1261G>A (p.Glu421Lys)	rs778673716	0.00001
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln)	rs150877497	0.00001
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp)	rs746243052	0.00001
NM_001142800.2(EYS):c.174G>A (p.Trp58Ter)	rs1177052380	0.00001
NM_001142800.2(EYS):c.5644+5G>A	rs794727412	0.00001
NM_001142800.2(EYS):c.6191+1G>A	rs1048032321	0.00001
NM_001142800.2(EYS):c.6563T>C (p.Ile2188Thr)	rs1562190751	0.00001
NM_001145308.5(LRTOMT):c.154C>T (p.Arg52Trp)	rs1372399805	0.00001
NM_001163435.3(TBCK):c.247C>T (p.Arg83Ter)	rs763057505	0.00001
NM_001164508.2(NEB):c.18865C>T (p.Arg6289Ter)	rs539819851	0.00001
NM_001166114.2(PNPLA6):c.3518G>A (p.Arg1173Gln)	rs1057517802	0.00001
NM_001171.6(ABCC6):c.3507-1G>A	rs72664210	0.00001
NM_001182.5(ALDH7A1):c.1061A>G (p.Tyr354Cys)	rs1471249688	0.00001
NM_001184880.2(PCDH19):c.695A>G (p.Asn232Ser)	rs587784299	0.00001
NM_001195263.2(PDZD7):c.490C>T (p.Arg164Trp)	rs200664140	0.00001
NM_001211.6(BUB1B):c.2441G>A (p.Arg814His)	rs28989182	0.00001
NM_001258392.3(CLPB):c.247C>T (p.Leu83Phe)	rs1590947700	0.00001
NM_001278116.2(L1CAM):c.925G>A (p.Glu309Lys)	rs367665974	0.00001
NM_001281740.3(FHOD3):c.1583A>G (p.Tyr528Cys)	rs2036159242	0.00001
NM_001291303.3(FAT4):c.2824A>G (p.Ile942Val)	rs368138514	0.00001
NM_001297.5(CNGB1):c.2921T>G (p.Met974Arg)	rs752967885	0.00001
NM_001298.3(CNGA3):c.1315C>T (p.Arg439Trp)	rs749842881	0.00001
NM_001361.5(DHODH):c.730C>T (p.Arg244Trp)	rs267606768	0.00001
NM_001367561.1(DOCK7):c.4717A>G (p.Ser1573Gly)	rs376119113	0.00001
NM_001370658.1(BTD):c.754T>G (p.Trp252Gly)	rs397514387	0.00001
NM_001370658.1(BTD):c.941_942del (p.Ile314fs)	rs749162799	0.00001
NM_001374385.1(ATP8B1):c.1891C>T (p.Arg631Ter)	rs775370485	0.00001
NM_001377.3(DYNC2H1):c.5971A>T (p.Met1991Leu)	rs137853025	0.00001
NM_001384474.1(LOXHD1):c.5731G>A (p.Gly1911Arg)	rs780560784	0.00001
NM_001386393.1(PANK2):c.1025A>G (p.Asp342Gly)	rs763496520	0.00001
NM_001849.4(COL6A2):c.2329T>C (p.Cys777Arg)	rs267606747	0.00001
NM_001875.5(CPS1):c.937A>G (p.Met313Val)	rs587780323	0.00001
NM_001918.5(DBT):c.434-15_434-4del	rs727503895	0.00001
NM_001953.5(TYMP):c.865G>A (p.Glu289Lys)	rs946234163	0.00001
NM_002076.4(GNS):c.1603A>G (p.Met535Val)	rs1320846022	0.00001
NM_002185.5(IL7R):c.83-2A>T	rs886060531	0.00001
NM_002206.3(ITGA7):c.3322C>T (p.Arg1108Trp)	rs775801045	0.00001
NM_002292.4(LAMB2):c.4033C>T (p.Arg1345Cys)	rs775469931	0.00001
NM_002335.4(LRP5):c.1480C>T (p.Arg494Trp)	rs1270099780	0.00001
NM_002437.5(MPV17):c.122G>A (p.Arg41Gln)	rs140992482	0.00001
NM_002473.6(MYH9):c.2105G>A (p.Arg702His)	rs80338827	0.00001
NM_002529.4(NTRK1):c.2020G>T (p.Asp674Tyr)	rs80356677	0.00001
NM_002529.4(NTRK1):c.2311C>T (p.Arg771Cys)	rs1324983370	0.00001
NM_002529.4(NTRK1):c.311G>A (p.Arg104His)	rs578095133	0.00001
NM_002834.5(PTPN11):c.1529A>G (p.Gln510Arg)	rs121918470	0.00001
NM_002834.5(PTPN11):c.166A>G (p.Ile56Val)	rs397507504	0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)	rs121918459	0.00001
NM_002900.3(RBP3):c.1682_1686dup (p.Thr563fs)	rs1555211286	0.00001
NM_003038.5(SLC1A4):c.1369C>T (p.Arg457Trp)	rs761533681	0.00001
NM_003038.5(SLC1A4):c.964C>T (p.Arg322Ter)	rs765089126	0.00001
NM_003060.4(SLC22A5):c.1139C>T (p.Ala380Val)	rs746187344	0.00001
NM_003060.4(SLC22A5):c.396G>A (p.Trp132Ter)	rs72552727	0.00001
NM_003119.4(SPG7):c.759-2A>G	rs770299071	0.00001
NM_003159.3(CDKL5):c.2809_2810insA (p.Cys937Ter)	rs1158418673	0.00001
NM_003322.6(TULP1):c.349G>A (p.Glu117Lys)	rs527236117	0.00001
NM_003361.4(UMOD):c.1492C>T (p.Arg498Ter)	rs368993197	0.00001
NM_003551.3(NME5):c.572G>A (p.Trp191Ter)	rs182049871	0.00001
NM_003560.4(PLA2G6):c.1442T>A (p.Leu481Gln)	rs587784330	0.00001
NM_003721.4(RFXANK):c.438+5G>A	rs1196984337	0.00001
NM_003742.4(ABCB11):c.936G>T (p.Gln312His)	rs770497192	0.00001
NM_003748.4(ALDH4A1):c.139C>T (p.Arg47Ter)	rs756807746	0.00001
NM_004076.5(CRYBB3):c.466G>A (p.Gly156Arg)	rs1203386884	0.00001
NM_004092.4(ECHS1):c.176A>G (p.Asn59Ser)	rs201865375	0.00001
NM_004183.4(BEST1):c.682G>A (p.Asp228Asn)	rs267606676	0.00001
NM_004301.5(ACTL6A):c.1129C>T (p.Arg377Trp)	rs868064163	0.00001
NM_004722.4(AP4M1):c.1117C>T (p.Gln373Ter)	rs1562912305	0.00001
NM_004722.4(AP4M1):c.1137+1G>T	rs770705832	0.00001
NM_004722.4(AP4M1):c.955T>C (p.Cys319Arg)	rs754498075	0.00001
NM_004830.4(MED23):c.1078-6T>G	rs750247163	0.00001
NM_004836.7(EIF2AK3):c.86C>T (p.Ala29Val)	rs529920914	0.00001
NM_004937.3(CTNS):c.922G>A (p.Gly308Arg)	rs746307931	0.00001
NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys)	rs193922680	0.00001
NM_005267.5(GJA8):c.134G>C (p.Trp45Ser)	rs864309688	0.00001
NM_005273.4(GNB2):c.217G>A (p.Ala73Thr)	rs1424516740	0.00001
NM_005476.7(GNE):c.529C>T (p.Arg177Cys)	rs539332585	0.00001
NM_005609.4(PYGM):c.1709G>A (p.Arg570Gln)	rs143550601	0.00001
NM_005630.3(SLCO2A1):c.1807C>T (p.Arg603Ter)	rs776813259	0.00001
NM_005908.4(MANBA):c.1117C>T (p.Arg373Trp)	rs369478532	0.00001
NM_006019.4(TCIRG1):c.1372G>A (p.Gly458Ser)	rs200851583	0.00001
NM_006182.4(DDR2):c.2255G>A (p.Arg752His)	rs1374086542	0.00001
NM_006269.2(RP1):c.4196del (p.Cys1399fs)	rs762951570	0.00001
NM_006302.3(MOGS):c.1517G>A (p.Arg506Gln)	rs757364620	0.00001
NM_006302.3(MOGS):c.1688G>A (p.Arg563Gln)	rs769741414	0.00001
NM_006348.5(COG5):c.556A>G (p.Ile186Val)	rs764180413	0.00001
NM_006363.6(SEC23B):c.1385A>G (p.Tyr462Cys)	rs780978419	0.00001
NM_006371.5(CRTAP):c.802G>A (p.Val268Ile)	rs112423184	0.00001
NM_006412.4(AGPAT2):c.662-2A>C	rs1131691791	0.00001
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln)	rs1223430276	0.00001
NM_006852.6(TLK2):c.1636C>T (p.Arg546Trp)	rs1283838287	0.00001
NM_007259.5(VPS45):c.712G>A (p.Glu238Lys)	rs782269909	0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)	rs267607048	0.00001
NM_012079.6(DGAT1):c.838C>T (p.Arg280Ter)	rs1554847435	0.00001
NM_012186.3(FOXE3):c.289A>G (p.Ile97Val)	rs774505755	0.00001
NM_012203.2(GRHPR):c.478G>A (p.Gly160Arg)	rs180177312	0.00001
NM_012434.5(SLC17A5):c.116G>A (p.Arg39His)	rs769235753	0.00001
NM_013328.4(PYCR2):c.40G>C (p.Ala14Pro)	rs1210762206	0.00001
NM_014049.5(ACAD9):c.1168G>A (p.Ala390Thr)	rs763004980	0.00001
NM_014249.4(NR2E3):c.166G>A (p.Gly56Arg)	rs121912631	0.00001
NM_014336.5(AIPL1):c.364G>C (p.Gly122Arg)	rs201883601	0.00001
NM_014362.4(HIBCH):c.226G>A (p.Glu76Lys)	rs778434126	0.00001
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys)	rs121918329	0.00001
NM_014425.5(INVS):c.2224G>A (p.Val742Met)	rs115598824	0.00001
NM_014780.5(CUL7):c.4570G>A (p.Val1524Ile)	rs369045809	0.00001
NM_014806.5(RUSC2):c.3511G>A (p.Asp1171Asn)	rs781773351	0.00001
NM_014946.4(SPAST):c.1245+1G>A	rs875989878	0.00001
NM_014956.5(CEP164):c.277C>T (p.Arg93Trp)	rs387907310	0.00001
NM_015386.3(COG4):c.529C>T (p.Arg177Ter)	rs376663459	0.00001
NM_015958.3(DPH5):c.779A>G (p.His260Arg)	rs746680777	0.00001
NM_016035.5(COQ4):c.469C>A (p.Gln157Lys)	rs1045118320	0.00001
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)	rs387907196	0.00001
NM_016138.5(COQ7):c.3G>T (p.Met1Ile)	rs746489573	0.00001
NM_016180.5(SLC45A2):c.274A>G (p.Ser92Gly)	rs755311638	0.00001
NM_016239.4(MYO15A):c.8340G>A (p.Thr2780=)	rs878853228	0.00001
NM_017654.4(SAMD9):c.2944C>T (p.Arg982Cys)	rs1247438528	0.00001
NM_017671.5(FERMT1):c.1718+2T>C	rs760256639	0.00001
NM_017882.3(CLN6):c.184C>T (p.Arg62Cys)	rs1451777867	0.00001
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)	rs398123009	0.00001
NM_018122.5(DARS2):c.1441G>A (p.Val481Met)	rs748312411	0.00001
NM_018127.7(ELAC2):c.1489C>T (p.Arg497Ter)	rs550032922	0.00001
NM_018192.4(P3H2):c.1523G>T (p.Gly508Val)	rs724159988	0.00001
NM_018941.4(CLN8):c.792C>G (p.Asn264Lys)	rs587779411	0.00001
NM_019098.5(CNGB3):c.1063C>T (p.Arg355Ter)	rs764742792	0.00001
NM_019098.5(CNGB3):c.1214T>C (p.Leu405Ser)	rs1178528306	0.00001
NM_019109.5(ALG1):c.1079C>T (p.Ala360Val)	rs398124348	0.00001
NM_020247.5(COQ8A):c.637C>T (p.Arg213Trp)	rs119468005	0.00001
NM_020374.4(FERRY3):c.1360C>T (p.Arg454Ter)	rs749969789	0.00001
NM_020549.5(CHAT):c.1679G>A (p.Arg560His)	rs121912819	0.00001
NM_020632.3(ATP6V0A4):c.2419C>T (p.Arg807Ter)	rs769164245	0.00001
NM_020964.3(EPG5):c.1936A>G (p.Met646Val)	rs745736928	0.00001
NM_021939.4(FKBP10):c.344G>A (p.Arg115Gln)	rs387906960	0.00001
NM_021942.6(TRAPPC11):c.751T>C (p.Tyr251His)	rs773950166	0.00001
NM_022041.4(GAN):c.1456G>A (p.Glu486Lys)	rs119485088	0.00001
NM_022124.6(CDH23):c.553G>A (p.Gly185Ser)	rs375465342	0.00001
NM_022464.5(SIL1):c.1030-18G>A	rs769052639	0.00001
NM_022787.4(NMNAT1):c.53A>G (p.Asn18Ser)	rs748902766	0.00001
NM_024537.4(CARS2):c.655G>A (p.Ala219Thr)	rs727505361	0.00001
NM_024649.5(BBS1):c.951+1G>A	rs746875134	0.00001
NM_024678.6(NARS2):c.506T>A (p.Phe169Tyr)	rs144653284	0.00001
NM_024818.6(UBA5):c.169A>G (p.Met57Val)	rs532178791	0.00001
NM_025074.7(FRAS1):c.3191G>T (p.Arg1064Leu)	rs779286671	0.00001
NM_031448.6(C19orf12):c.215C>T (p.Pro72Leu)	rs201987973	0.00001
NM_032383.5(HPS3):c.2589+2T>C	rs1411572278	0.00001
NM_032444.4(SLX4):c.4618G>A (p.Glu1540Lys)	rs769950582	0.00001
NM_032492.4(JAGN1):c.56A>G (p.His19Arg)	rs748123071	0.00001
NM_032806.6(POMGNT2):c.511G>A (p.Asp171Asn)	rs768063378	0.00001
NM_032861.4(SERAC1):c.487+5T>C	rs748641688	0.00001
NM_033419.5(PGAP3):c.850C>G (p.His284Asp)	rs759541820	0.00001
NM_052813.5(CARD9):c.865C>T (p.Gln289Ter)	rs398122363	0.00001
NM_052845.4(MMAB):c.398C>T (p.Ser133Phe)	rs749936057	0.00001
NM_054012.4(ASS1):c.256C>T (p.Arg86Cys)	rs121908644	0.00001
NM_054012.4(ASS1):c.40G>A (p.Gly14Ser)	rs121908636	0.00001
NM_054012.4(ASS1):c.970+5G>A	rs372128852	0.00001
NM_133459.4(CCBE1):c.552T>C (p.Thr184=)	rs771507895	0.00001
NM_138376.3(TTC5):c.787C>T (p.Arg263Ter)	rs199831317	0.00001
NM_138694.4(PKHD1):c.5174G>C (p.Trp1725Ser)	rs761046498	0.00001
NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter)	rs786204688	0.00001
NM_152393.4(KLHL40):c.1582G>A (p.Glu528Lys)	rs397509419	0.00001
NM_152416.4(NDUFAF6):c.337C>T (p.Arg113Ter)	rs753873681	0.00001
NM_152443.3(RDH12):c.446T>C (p.Leu149Pro)	rs747257567	0.00001
NM_152564.5(VPS13B):c.2074C>T (p.Arg692Ter)	rs180177356	0.00001
NM_152703.5(SAMD9L):c.2957G>A (p.Arg986His)	rs769611275	0.00001
NM_170707.4(LMNA):c.1412G>A (p.Arg471His)	rs267607578	0.00001
NM_172351.3(CD46):c.104G>A (p.Cys35Tyr)	rs121909591	0.00001
NM_173551.5(ANKS6):c.1235G>A (p.Arg412Gln)	rs764745147	0.00001
NM_173660.5(DOK7):c.481G>A (p.Gly161Arg)	rs758131044	0.00001
NM_174936.4(PCSK9):c.643C>T (p.Arg215Cys)	rs753505066	0.00001
NM_176787.5(PIGN):c.163C>T (p.Arg55Ter)	rs768412580	0.00001
NM_176824.3(BBS7):c.728G>A (p.Cys243Tyr)	rs727503821	0.00001
NM_176824.3(BBS7):c.838C>T (p.Arg280Ter)	rs151275562	0.00001
NM_178172.6(GPIHBP1):c.193T>C (p.Cys65Arg)	rs1300685456	0.00001
NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp)	rs267607017	0.00001
NM_181882.3(PRX):c.3208C>T (p.Arg1070Ter)	rs104894708	0.00001
NM_183050.4(BCKDHB):c.970C>T (p.Arg324Ter)	rs398124603	0.00001
NM_198576.4(AGRN):c.1553C>T (p.Thr518Met)	rs746322262	0.00001
NM_198576.4(AGRN):c.1891G>A (p.Val631Met)	rs748716996	0.00001
NM_203446.3(SYNJ1):c.3007G>A (p.Ala1003Thr)	rs911362591	0.00001
NM_206933.4(USH2A):c.8254G>A (p.Gly2752Arg)	rs201863550	0.00001
NM_207346.3(TSEN54):c.369+5G>A	rs756343304	0.00001
NM_207352.4(CYP4V2):c.283G>A (p.Gly95Arg)	rs199476187	0.00001
NM_207352.4(CYP4V2):c.992A>C (p.His331Pro)	rs199476197	0.00001
NR_003051.4(RMRP):n.232C>T	rs762145032	0.00001
NC_000011.10:g.47332282_47332306del	rs36212066
NC_000011.10:g.47347065C>T	rs864622197
NC_000015.9:g.68504037_68504039delGAT	rs121908080
NC_012920.1(MT-ND1):m.1661A>G	rs1057516055
NC_012920.1(MT-ND5):m.13042G>A	rs267606898
NM_000020.3(ACVRL1):c.1120C>T (p.Arg374Trp)	rs28936401
NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln)	rs121909284
NM_000021.4(PSEN1):c.698T>C (p.Met233Thr)	rs63751024
NM_000023.4(SGCA):c.409G>C (p.Glu137Gln)	rs372210292
NM_000027.4(AGA):c.52C>T (p.Gln18Ter)	rs201701066
NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser)	rs1569541088
NM_000033.4(ABCD1):c.253del (p.Arg85fs)	rs713993050
NM_000033.4(ABCD1):c.479T>C (p.Leu160Pro)	rs2091707324
NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp)	rs1131691916
NM_000033.4(ABCD1):c.653C>T (p.Pro218Leu)	rs1569540710
NM_000033.4(ABCD1):c.839G>A (p.Arg280His)	rs781904944
NM_000033.4(ABCD1):c.848A>C (p.His283Pro)	rs2148389929
NM_000033.4(ABCD1):c.871GAG[1] (p.Glu292del)	rs387906496
NM_000033.4(ABCD1):c.887A>G (p.Tyr296Cys)	rs797044610
NM_000035.4(ALDOB):c.113-1_115del	rs786204598
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs)	rs387906225
NM_000037.4(ANK1):c.3325C>T (p.Gln1109Ter)	rs2150593157
NM_000041.4(APOE):c.460C>T (p.Arg154Cys)
NM_000044.6(AR):c.1846C>T (p.Arg616Cys)	rs1555990485
NM_000044.6(AR):c.2710G>T (p.Val904Leu)	rs2147540656
NM_000048.4(ASL):c.1138A>G (p.Lys380Glu)	rs2485028603
NM_000049.4(ASPA):c.454T>C (p.Cys152Arg)	rs104894548
NM_000051.4(ATM):c.1065+1G>T	rs201089102
NM_000051.4(ATM):c.1844T>C (p.Leu615Pro)	rs786203783
NM_000051.4(ATM):c.331+5G>A	rs752135143
NM_000051.4(ATM):c.5178-1G>A	rs1555105579
NM_000051.4(ATM):c.6899G>C (p.Trp2300Ser)	rs1555119899
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter)	rs121434220
NM_000051.4(ATM):c.7629+1G>A	rs1565532703
NM_000051.4(ATM):c.7788G>A (p.Glu2596=)	rs587780639
NM_000051.4(ATM):c.8373C>A (p.Tyr2791Ter)	rs1060504292
NM_000051.4(ATM):c.8659C>G (p.His2887Asp)	rs1591274530
NM_000052.7(ATP7A):c.1126A>G (p.Thr376Ala)	rs782616685
NM_000052.7(ATP7A):c.1127C>A (p.Thr376Lys)	rs2077659011
NM_000052.7(ATP7A):c.1835T>G (p.Ile612Ser)	rs1569549840
NM_000052.7(ATP7A):c.1870-1G>C	rs797045338
NM_000052.7(ATP7A):c.2183G>A (p.Gly728Asp)	rs797045350
NM_000052.7(ATP7A):c.924A>G (p.Ile308Met)	rs2522293888
NM_000053.4(ATP7B):c.3818C>A (p.Pro1273Gln)	rs758355520
NM_000054.7(AVPR2):c.382_384del (p.Tyr128del)	rs1557100594
NM_000057.4(BLM):c.99-8_112del	rs2151146678
NM_000062.3(SERPING1):c.553G>C (p.Ala185Pro)	rs1335168882
NM_000070.3(CAPN3):c.1536G>C (p.Glu512Asp)
NM_000070.3(CAPN3):c.1936C>T (p.Gln646Ter)	rs2054129122
NM_000070.3(CAPN3):c.550del (p.Thr184fs)	rs80338800
NM_000070.3(CAPN3):c.608C>T (p.Ala203Val)	rs763719290
NM_000071.3(CBS):c.862G>A (p.Ala288Thr)	rs141502207
NM_000074.3(CD40LG):c.158_161del
NM_000079.4(CHRNA1):c.517G>A (p.Gly173Ser)	rs137852801
NM_000080.4(CHRNE):c.452_454del (p.Glu151del)	rs2151098283
NM_000081.4(LYST):c.6712C>T (p.Arg2238Ter)	rs2527805640
NM_000081.4(LYST):c.7460+3_7460+6del	rs2527732015
NM_000083.3(CLCN1):c.697G>A (p.Gly233Ser)	rs139039122
NM_000088.4(COL1A1):c.2101G>A (p.Gly701Ser)	rs68114505
NM_000088.4(COL1A1):c.3028G>A (p.Gly1010Ser)	rs72653169
NM_000088.4(COL1A1):c.543G>A (p.Met181Ile)	rs72667022
NM_000090.4(COL3A1):c.3563G>A (p.Gly1188Glu)	rs112456072
NM_000090.4(COL3A1):c.970G>A (p.Gly324Ser)	rs587779650
NM_000091.5(COL4A3):c.2498G>A (p.Gly833Asp)	rs779489401
NM_000092.5(COL4A4):c.1323_1340del (p.Pro444_Leu449del)	rs773081522
NM_000092.5(COL4A4):c.2420del (p.Gly807fs)	rs786205640
NM_000092.5(COL4A4):c.3000_3004del (p.Gly1002fs)	rs2473974445
NM_000095.3(COMP):c.1405GAC[6] (p.Asp473dup)	rs193922900
NM_000098.3(CPT2):c.1883A>C (p.Tyr628Ser)	rs28936673
NM_000104.4(CYP1B1):c.830del (p.Phe276_Leu277insTer)	rs766425037
NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del)	rs80358233
NM_000127.3(EXT1):c.873C>G (p.Asp291Glu)	rs372750330
NM_000132.4(F8):c.1636C>T (p.Arg546Trp)	rs137852416
NM_000132.4(F8):c.4379del (p.Asn1460fs)	rs387906455
NM_000135.4(FANCA):c.189+1G>A	rs891323617
NM_000135.4(FANCA):c.1A>G (p.Met1Val)	rs772751654
NM_000135.4(FANCA):c.2453_2454del (p.Leu817_Phe818insTer)	rs2544195729
NM_000135.4(FANCA):c.2499C>A (p.Cys833Ter)	rs2039260856
NM_000135.4(FANCA):c.2853-15_2856del	rs1285346388
NM_000135.4(FANCA):c.4010+2T>C	rs2062067746
NM_000135.4(FANCA):c.987_990del (p.His330fs)	rs772359099
NM_000138.5(FBN1):c.3596A>G (p.Asp1199Gly)	rs794728206
NM_000138.5(FBN1):c.364C>T (p.Arg122Cys)	rs137854467
NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys)	rs794728334
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys)	rs137854480
NM_000138.5(FBN1):c.7204+1G>A	rs1555394557
NM_000138.5(FBN1):c.8226+1G>A	rs398122833
NM_000141.5(FGFR2):c.1694A>C (p.Glu565Ala)	rs121918506
NM_000146.4(FTL):c.485_489dup (p.Glu164fs)	rs2122436225
NM_000147.5(FUCA1):c.768+1G>A	rs1639468949
NM_000151.4(G6PC1):c.706T>A (p.Trp236Arg)	rs2056092151
NM_000152.5(GAA):c.1669A>T (p.Ile557Phe)	rs747150965
NM_000152.5(GAA):c.2227C>T (p.Gln743Ter)	rs1057516277
NM_000153.4(GALC):c.1400C>T (p.Thr467Ile)	rs750431739
NM_000154.2(GALK1):c.410del (p.Gly137fs)	rs767329054
NM_000155.4(GALT):c.957C>G (p.His319Gln)	rs111033792
NM_000166.6(GJB1):c.580A>G (p.Met194Val)	rs587777878
NM_000168.6(GLI3):c.1873C>T (p.Arg625Trp)	rs121917712
NM_000169.3(GLA):c.717A>G (p.Ile239Met)	rs1928192530
NM_000170.3(GLDC):c.1484_1489del	rs778109389
NM_000170.3(GLDC):c.2516A>G (p.Tyr839Cys)	rs1817497974
NM_000181.4(GUSB):c.22G>T (p.Ala8Ser)	rs376505707
NM_000187.4(HGD):c.1201G>C (p.Glu401Gln)	rs767159114
NM_000188.3(HK1):c.1334C>T (p.Ser445Leu)	rs1064794848
NM_000190.4(HMBS):c.76C>T (p.Arg26Cys)	rs998842815
NM_000191.3(HMGCL):c.230del (p.Val77fs)	rs1638632303
NM_000202.8(IDS):c.241-9C>G	rs2089497858
NM_000202.8(IDS):c.469C>T (p.Pro157Ser)	rs864622774
NM_000202.8(IDS):c.514C>T (p.Arg172Ter)	rs104894860
NM_000226.4(KRT9):c.483T>A (p.Asn161Lys)	rs57536312
NM_000235.4(LIPA):c.1033G>A (p.Asp345Asn)	rs1446626293
NM_000235.4(LIPA):c.1067T>G (p.Leu356Ter)	rs2133411704
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del)	rs104895093
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)	rs61732874
NM_000256.3(MYBPC3):c.1224-33G>A
NM_000256.3(MYBPC3):c.1595dup (p.Gln533fs)	rs730880640
NM_000256.3(MYBPC3):c.1645C>T (p.Gln549Ter)	rs2142860329
NM_000256.3(MYBPC3):c.2432AGA[3] (p.Lys814del)	rs727504288
NM_000256.3(MYBPC3):c.2905+1G>A	rs397515991
NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys)	rs727503263
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln)	rs121913641
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys)	rs121913628
NM_000257.4(MYH7):c.3346G>A (p.Glu1116Lys)	rs727504274
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn)	rs397516264
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln)	rs3218713
NM_000258.3(MYL3):c.170C>A (p.Ala57Asp)	rs139794067
NM_000258.3(MYL3):c.170C>G (p.Ala57Gly)	rs139794067
NM_000260.4(MYO7A):c.4184dup (p.Tyr1396fs)	rs1555095933
NM_000260.4(MYO7A):c.5880CTT[2] (p.Phe1963del)	rs111033232
NM_000263.4(NAGLU):c.1694G>C (p.Arg565Pro)	rs104894598
NM_000271.5(NPC1):c.3503G>A (p.Cys1168Tyr)	rs1555631998
NM_000271.5(NPC1):c.3590C>T (p.Ser1197Phe)	rs1234099104
NM_000271.5(NPC1):c.3591+2dup	rs2145342749
NM_000276.4(OCRL):c.1245-20T>G	rs750377065
NM_000277.3(PAH):c.1065+1G>T	rs62516147
NM_000277.3(PAH):c.439C>T (p.Pro147Ser)	rs199475624
NM_000277.3(PAH):c.493G>C (p.Ala165Pro)	rs199475626
NM_000277.3(PAH):c.527G>A (p.Arg176Gln)	rs74486803
NM_000277.3(PAH):c.592_613del (p.Tyr198fs)	rs199475697
NM_000277.3(PAH):c.676C>A (p.Gln226Lys)	rs62508696
NM_000277.3(PAH):c.969+1G>A	rs62508584
NM_000282.4(PCCA):c.183+1G>A	rs757540625
NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys)	rs863224148
NM_000284.4(PDHA1):c.422G>A (p.Arg141Gln)	rs794729213
NM_000284.4(PDHA1):c.862C>T (p.Arg288Cys)	rs2063213272
NM_000293.3(PHKB):c.1969C>T (p.Gln657Ter)	rs34667348
NM_000294.3(PHKG2):c.800_801+34del	rs2151310413
NM_000297.4(PKD2):c.690del (p.Leu231fs)	rs2475869442
NM_000298.6(PKLR):c.1015G>A (p.Asp339Asn)	rs747097960
NM_000303.3(PMM2):c.353C>G (p.Thr118Ser)	rs2060674564
NM_000303.3(PMM2):c.415G>A (p.Glu139Lys)	rs80338703
NM_000303.3(PMM2):c.550C>A (p.Pro184Thr)	rs1555449795
NM_000303.3(PMM2):c.573C>A (p.Tyr191Ter)	rs201440361
NM_000303.3(PMM2):c.639+1G>A	rs1057517183
NM_000303.3(PMM2):c.647A>T (p.Asn216Ile)	rs78290141
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg)	rs80338708
NM_000303.3(PMM2):c.713G>C (p.Arg238Pro)	rs151319324
NM_000304.4(PMP22):c.298G>A (p.Gly100Arg)	rs1597607651
NM_000306.4(POU1F1):c.515G>A (p.Arg172Gln)	rs104893765
NM_000310.4(PPT1):c.362+5G>A	rs796052924
NM_000310.4(PPT1):c.433+1G>A	rs1553167415
NM_000310.4(PPT1):c.674T>C (p.Phe225Ser)	rs386833662
NM_000313.4(PROS1):c.1063C>T (p.Arg355Cys)	rs387906674
NM_000314.8(PTEN):c.389G>T (p.Arg130Leu)	rs121909229
NM_000329.3(RPE65):c.1101A>G (p.Arg367=)	rs1553152989
NM_000329.3(RPE65):c.1451-1G>A	rs1317871521
NM_000330.4(RS1):c.214G>A (p.Glu72Lys)	rs104894928
NM_000330.4(RS1):c.349C>T (p.Gln117Ter)	rs199469696
NM_000340.2(SLC2A2):c.*83A>T	rs993283861
NM_000341.4(SLC3A1):c.1094G>T (p.Arg365Leu)	rs567478582
NM_000341.4(SLC3A1):c.1617+1dup	rs2104385579
NM_000342.4(SLC4A1):c.1199_1225del (p.Ala400_Ala408del)	rs769664228
NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys)	rs121912745
NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp)	rs121912751
NM_000343.4(SLC5A1):c.1006C>T (p.Arg336Cys)	rs768831308
NM_000349.3(STAR):c.544C>T (p.Arg182Cys)	rs369232492
NM_000350.3(ABCA4):c.3210_3211dup (p.Ser1071fs)	rs387906385
NM_000350.3(ABCA4):c.4854G>C (p.Trp1618Cys)	rs61752439
NM_000350.3(ABCA4):c.4979C>T (p.Pro1660Leu)	rs886044746
NM_000352.6(ABCC8):c.2169_2171del (p.Leu724del)	rs760520781
NM_000352.6(ABCC8):c.563A>G (p.Asn188Ser)	rs797045213
NM_000359.3(TGM1):c.400T>C (p.Tyr134His)	rs1230140208
NM_000359.3(TGM1):c.984+1G>A	rs749160734
NM_000360.4(TH):c.779del (p.Arg260fs)	rs2495805751
NM_000363.5(TNNI3):c.204del (p.Arg69fs)	rs727504872
NM_000368.5(TSC1):c.1005dup (p.Arg336fs)	rs2131975092
NM_000368.5(TSC1):c.1498C>T (p.Arg500Ter)	rs118203537
NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter)	rs118203542
NM_000368.5(TSC1):c.664-15A>G	rs118203422
NM_000371.4(TTR):c.425T>C (p.Val142Ala)	rs2144414426
NM_000377.3(WAS):c.1057CCA[1] (p.Pro354del)	rs1569494034
NM_000380.4(XPA):c.389+1G>A	rs1554701931
NM_000382.3(ALDH3A2):c.551C>G (p.Thr184Arg)	rs72547562
NM_000382.3(ALDH3A2):c.777G>A (p.Trp259Ter)	rs1555533754
NM_000383.4(AIRE):c.967_979del (p.Leu323fs)	rs386833675
NM_000390.4(CHM):c.1520A>G (p.His507Arg)	rs397514603
NM_000391.4(TPP1):c.1205A>G (p.Glu402Gly)	rs1471156821
NM_000394.4(CRYAA):c.34C>T (p.Arg12Cys)	rs397515624
NM_000396.4(CTSK):c.721C>T (p.Arg241Ter)	rs74315303
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr)	rs137853097
NM_000416.3(IFNGR1):c.653_655del (p.Glu218del)	rs587776858
NM_000426.4(LAMA2):c.1893_1897del (p.Asp631fs)	rs746844753
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs)	rs202247790
NM_000435.3(NOTCH3):c.160C>T (p.Arg54Cys)	rs1555730189
NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys)	rs75068032
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys)	rs137852642
NM_000435.3(NOTCH3):c.503G>A (p.Cys168Tyr)	rs2145441901
NM_000441.2(SLC26A4):c.1337A>G (p.Gln446Arg)	rs768471577
NM_000441.2(SLC26A4):c.164+1del	rs786204504
NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn)	rs397516427
NM_000441.2(SLC26A4):c.269C>T (p.Ser90Leu)	rs370588279
NM_000441.2(SLC26A4):c.412G>C (p.Val138Leu)	rs111033199
NM_000444.6(PHEX):c.1735G>A (p.Gly579Arg)	rs875989883
NM_000444.6(PHEX):c.934-2A>G	rs1930291143
NM_000455.5(STK11):c.500T>C (p.Leu167Pro)
NM_000458.4(HNF1B):c.511T>C (p.Trp171Arg)	rs193922490
NM_000459.5(TEK):c.1490-1G>A	rs1380793724
NM_000459.5(TEK):c.154dup (p.His52fs)	rs2131119729
NM_000459.5(TEK):c.3165C>A (p.Tyr1055Ter)	rs1826003461
NM_000459.5(TEK):c.3251C>G (p.Ser1084Ter)	rs2131266023
NM_000459.5(TEK):c.470_471insTGGT (p.Lys157fs)	rs2131141182
NM_000459.5(TEK):c.857G>T (p.Gly286Val)	rs2131150099
NM_000474.4(TWIST1):c.563C>T (p.Ser188Leu)	rs121909191
NM_000481.4(AMT):c.1068GAA[2] (p.Lys358del)	rs768940499
NM_000481.4(AMT):c.311G>A (p.Gly104Glu)	rs753221440
NM_000481.4(AMT):c.970_972del (p.Met324del)	rs386833691
NM_000487.6(ARSA):c.1282_1283dup (p.Leu429fs)	rs2518322313
NM_000487.6(ARSA):c.851A>G (p.Asn284Ser)	rs199476342
NM_000488.4(SERPINC1):c.1154-14G>A	rs542881762
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys)	rs122445105
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)	rs113993960
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala)	rs193922500
NM_000492.4(CFTR):c.1766+3A>C	rs397508298
NM_000492.4(CFTR):c.1820_1903del (p.Met607_Gln634del)	rs121908777
NM_000492.4(CFTR):c.274-2A>G	rs397508426
NM_000500.9(CYP21A2):c.292+1G>A	rs779144910
NM_000500.9(CYP21A2):c.293-13C>G	rs6467
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu)	rs6471
NM_000500.9(CYP21A2):c.923dup (p.Leu308fs)	rs267606756
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys)	rs566453434
NM_000512.5(GALNS):c.1259C>G (p.Pro420Arg)	rs752937387
NM_000512.5(GALNS):c.143T>C (p.Val48Ala)	rs191519947
NM_000512.5(GALNS):c.423-862C>T	rs1597575641
NM_000512.5(GALNS):c.647T>C (p.Phe216Ser)	rs747805226
NM_000521.4(HEXB):c.833C>T (p.Ala278Val)	rs886044118
NM_000527.5(LDLR):c.2416dup (p.Val806fs)	rs773618064
NM_000527.5(LDLR):c.523G>A (p.Asp175Asn)	rs121908033
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg)	rs140241383
NM_000528.4(MAN2B1):c.1109+1G>C	rs2024027294
NM_000528.4(MAN2B1):c.1714G>T (p.Ala572Ser)	rs377104016
NM_000532.5(PCCB):c.1196C>G (p.Pro399Arg)	rs753037539
NM_000532.5(PCCB):c.682C>G (p.Pro228Ala)	rs1052979420
NM_000539.3(RHO):c.281C>T (p.Thr94Ile)	rs104893796
NM_000539.3(RHO):c.563G>A (p.Gly188Glu)	rs1424131846
NM_000539.3(RHO):c.762CAT[2] (p.Ile256del)	rs1553781360
NM_000540.3(RYR1):c.14581C>T (p.Arg4861Cys)	rs118192181
NM_000540.3(RYR1):c.14678G>A (p.Arg4893Gln)	rs118192151
NM_000543.5(SMPD1):c.1264-1G>C	rs1057516454
NM_000543.5(SMPD1):c.148_151del (p.Ser50fs)	rs281860676
NM_000543.5(SMPD1):c.1548T>G (p.His516Gln)	rs1590747902
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter)	rs398123478
NM_000543.5(SMPD1):c.1718G>C (p.Trp573Ser)	rs2134024060
NM_000543.5(SMPD1):c.581dup (p.Ala195fs)	rs748165078
NM_000545.8(HNF1A):c.1135C>A (p.Pro379Thr)	rs754729248
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala)	rs754729248
NM_000546.6(TP53):c.818G>A (p.Arg273His)	rs28934576
NM_000548.5(TSC2):c.2197C>G (p.Leu733Val)	rs397515163
NM_000548.5(TSC2):c.225+1G>A	rs1567387207
NM_000548.5(TSC2):c.2355G>A (p.Gln785=)	rs2088708544
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del)	rs137854218
NM_000548.5(TSC2):c.973C>T (p.Gln325Ter)	rs397515097
NM_000557.5(GDF5):c.1139G>A (p.Arg380Gln)	rs397514668
NM_000558.5(HBA1):c.328del (p.Leu110fs)	rs281864535
NM_000587.4(C7):c.1561C>A (p.Arg521Ser)	rs121964920
NM_000642.3(AGL):c.2223_2224del (p.Gln741fs)	rs1553186613
NM_000834.5(GRIN2B):c.2065G>A (p.Gly689Ser)	rs869312868
NM_000834.5(GRIN2B):c.2459G>C (p.Gly820Ala)	rs797044849
NM_000875.5(IGF1R):c.3530G>A (p.Arg1177His)	rs1596476159
NM_000875.5(IGF1R):c.361G>A (p.Glu121Lys)	rs1555434208
NM_000925.4(PDHB):c.96+12G>A	rs773433623
NM_000944.5(PPP3CA):c.1283dup (p.Thr429fs)	rs1727004803
NM_000965.5(RARB):c.1159C>T (p.Arg387Cys)	rs397518483
NM_000977.4(RPL13):c.548G>A (p.Arg183His)	rs1597676540
NM_001001548.3(CD36):c.447_450dup (p.Asn151fs)	rs780114238
NM_001001548.3(CD36):c.660_664del (p.Asn220fs)	rs768699378
NM_001001548.3(CD36):c.660_669del (p.Asn220fs)	rs778808650
NM_001001548.3(CD36):c.787_808del (p.Val263fs)	rs754365623
NM_001002295.2(GATA3):c.1099C>T (p.Arg367Ter)	rs104894164
NM_001003694.2(BRPF1):c.1433G>A (p.Trp478Ter)	rs2125501418
NM_001003787.4(STRADA):c.792T>A (p.Ser264Arg)	rs1057519011
NM_001003787.4(STRADA):c.992C>A (p.Thr331Asn)	rs539671529
NM_001003800.2(BICD2):c.2239C>T (p.Arg747Cys)	rs1587667544
NM_001005242.3(PKP2):c.962del (p.Val321fs)
NM_001005273.3(CHD3):c.2656C>T (p.His886Tyr)	rs2151569587
NM_001005273.3(CHD3):c.2953C>T (p.Arg985Trp)	rs1555611722
NM_001006941.2(ALG3):c.46G>T (p.Gly16Trp)	rs373046727
NM_001007527.2(LMBRD2):c.1448G>A (p.Arg483His)	rs2111857835
NM_001009944.3(PKD1):c.10167+25_10167+43del	rs1197421698
NM_001009944.3(PKD1):c.12514del (p.Ser4172fs)	rs1555444225
NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter)	rs755496450
NM_001009944.3(PKD1):c.1391T>C (p.Leu464Pro)
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)	rs1616940
NM_001009944.3(PKD1):c.3165G>A (p.Trp1055Ter)	rs1596566550
NM_001009944.3(PKD1):c.6813_6814del (p.Arg2272fs)	rs1567191145
NM_001009944.3(PKD1):c.8284_8295dup (p.Ile2762_Arg2765dup)	rs1596527370
NM_001009944.3(PKD1):c.9404C>T (p.Thr3135Met)	rs1555449635
NM_001017995.3(SH3PXD2B):c.1615C>T (p.Arg539Trp)	rs199704139
NM_001029896.2(WDR45):c.827+1G>T	rs1557083958
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His)	rs886041246
NM_001032221.6(STXBP1):c.560C>T (p.Pro187Leu)	rs1841141204
NM_001034853.2(RPGR):c.2426_2427del (p.Glu809fs)	rs730882261
NM_001034853.2(RPGR):c.2505_2506del (p.Glu836fs)	rs1569236971
NM_001034853.2(RPGR):c.2628_2629del (p.Glu877fs)	rs2067166789
NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys)	rs1131692231
NM_001039591.3(USP9X):c.7096C>T (p.Arg2366Ter)	rs2519412851
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln)	rs794727152
NM_001040142.2(SCN2A):c.4303C>T (p.Arg1435Ter)	rs796053138
NM_001040142.2(SCN2A):c.4949T>C (p.Leu1650Pro)	rs1702008435
NM_001040142.2(SCN2A):c.4976C>T (p.Ala1659Val)	rs1060503101
NM_001040142.2(SCN2A):c.5317G>A (p.Ala1773Thr)	rs796053162
NM_001040142.2(SCN2A):c.5636T>C (p.Met1879Thr)	rs2105403536
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val)	rs1553567409
NM_001040716.2(PC):c.908del (p.Gly303fs)	rs2495743452
NM_001042424.3(NSD2):c.1348C>T (p.Arg450Ter)	rs2108805626
NM_001042432.2(CLN3):c.565G>T (p.Gly189Trp)	rs386833731
NM_001042492.3(NF1):c.1038del (p.Gln347fs)	rs2143874352
NM_001042492.3(NF1):c.1062G>A (p.Lys354=)	rs1131691118
NM_001042492.3(NF1):c.1260+5G>C	rs1060500253
NM_001042492.3(NF1):c.1316T>C (p.Leu439Pro)	rs2143914353
NM_001042492.3(NF1):c.1649T>C (p.Leu550Pro)	rs886052798
NM_001042492.3(NF1):c.1738del (p.Tyr580fs)	rs786204255
NM_001042492.3(NF1):c.2251G>A (p.Gly751Arg)	rs1567847681
NM_001042492.3(NF1):c.2326-2A>G	rs1555613975
NM_001042492.3(NF1):c.2352G>C (p.Trp784Cys)	rs199474778
NM_001042492.3(NF1):c.2970_2972del (p.Met992del)	rs267606606
NM_001042492.3(NF1):c.3831C>T (p.Gly1277=)	rs1597722611
NM_001042492.3(NF1):c.4520del (p.Leu1507fs)	rs2151464729
NM_001042492.3(NF1):c.4786G>C (p.Ala1596Pro)	rs2151470213
NM_001042492.3(NF1):c.5933T>G (p.Leu1978Arg)	rs2069606635
NM_001042492.3(NF1):c.6355A>T (p.Arg2119Ter)	rs2151554939
NM_001042492.3(NF1):c.6428-11T>G	rs2151555896
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter)	rs786201367
NM_001042492.3(NF1):c.808C>T (p.Gln270Ter)	rs1555608970
NM_001042492.3(NF1):c.819_821del (p.Leu274del)	rs2143786045
NM_001042545.2(LTBP4):c.2029C>T (p.Arg677Ter)	rs2146029786
NM_001042681.2(RERE):c.4304A>G (p.His1435Arg)	rs1553154130
NM_001042681.2(RERE):c.452dup (p.Ala152fs)	rs1233062866
NM_001044385.3(TMEM237):c.869+1G>A	rs730882231
NM_001046.3(SLC12A2):c.2894C>A (p.Ser965Tyr)	rs529490835
NM_001069.3(TUBB2A):c.1172G>A (p.Arg391His)	rs1057521250
NM_001069.3(TUBB2A):c.5G>A (p.Arg2His)	rs1581499166
NM_001070.5(TUBG1):c.1022G>A (p.Arg341Gln)	rs1555631467
NM_001077350.3(NPRL3):c.274C>T (p.Arg92Ter)	rs1199226176
NM_001079668.3(NKX2-1):c.464-9C>A	rs2139408360
NM_001079872.2(CUL4B):c.53A>G (p.Gln18Arg)	rs1199433297
NM_001080.3(ALDH5A1):c.1343+1del	rs1561879386
NM_001080467.3(MYO5B):c.2470C>T (p.Arg824Cys)	rs777038090
NM_001080517.3(SETD5):c.1042C>T (p.Arg348Trp)	rs1553621798
NM_001080517.3(SETD5):c.2168T>A (p.Leu723Ter)	rs751310320
NM_001083116.3(PRF1):c.148G>A (p.Val50Met)	rs776299562
NM_001083961.2(WDR62):c.3322C>T (p.Gln1108Ter)	rs1193422410
NM_001083962.2(TCF4):c.1726C>T (p.Arg576Ter)	rs1555710726
NM_001083962.2(TCF4):c.1732C>T (p.Arg578Cys)	rs2144406630
NM_001099922.3(ALG13):c.1842G>T (p.Arg614Ser)	rs1942117760
NM_001100913.3(PACS2):c.1381G>A (p.Asp461Asn)	rs2081012243
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys)	rs1555408401
NM_001101.5(ACTB):c.617G>A (p.Arg206Gln)	rs886039472
NM_001101.5(ACTB):c.826G>A (p.Glu276Lys)	rs1554329216
NM_001110792.2(MECP2):c.414-3C>G	rs267608465
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys)	rs61748390
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)	rs28934906
NM_001110792.2(MECP2):c.710C>G (p.Pro237Arg)	rs61749715
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)	rs61749721
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)	rs61751362
NM_001114753.3(ENG):c.-127C>T	rs1060501408
NM_001122769.3(LCA5):c.190+1G>A	rs746351112
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)	rs886037945
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met)	rs794727411
NM_001127392.3(MYRF):c.789del (p.Ser264fs)	rs769274302
NM_001127649.3(PEX26):c.228C>T (p.Gly76=)	rs786205556
NM_001127898.4(CLCN5):c.2320C>T (p.Arg774Ter)	rs151340624
NM_001130438.3(SPTAN1):c.3292C>T (p.Arg1098Cys)	rs1853920585
NM_001130438.3(SPTAN1):c.6922C>T (p.Arg2308Cys)	rs1554768992
NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter)	rs766016391
NM_001134407.3(GRIN2A):c.2069C>T (p.Thr690Met)	rs1445802934
NM_001134407.3(GRIN2A):c.250A>T (p.Thr84Ser)	rs1006328489
NM_001134407.3(GRIN2A):c.3250G>C (p.Asp1084His)	rs761296880
NM_001134407.3(GRIN2A):c.3602G>A (p.Ser1201Asn)	rs2141130589
NM_001134673.4(NFIA):c.361C>T (p.Arg121Cys)	rs886039429
NM_001134831.2(AHI1):c.1760G>A (p.Trp587Ter)
NM_001134831.2(AHI1):c.1799_1802del (p.Lys600fs)	rs1786504555
NM_001142800.2(EYS):c.3490G>T (p.Glu1164Ter)	rs2149856835
NM_001142800.2(EYS):c.9354dup (p.Gln3119fs)	rs771640639
NM_001145358.2(SIN3A):c.3653C>G (p.Thr1218Ser)	rs2542982542
NM_001162498.3(LPAR6):c.436G>A (p.Gly146Arg)	rs121434308
NM_001164277.2(SLC37A4):c.92_94del (p.Phe31del)	rs1432360280
NM_001164508.2(NEB):c.20158-6A>G	rs1553715636
NM_001164508.2(NEB):c.24579G>A (p.Ser8193=)	rs202048855
NM_001165963.4(SCN1A):c.2927T>C (p.Met976Thr)	rs1057518325
NM_001165963.4(SCN1A):c.602+1G>A	rs794726827
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter)	rs121918624
NM_001167.4(XIAP):c.778C>T (p.Pro260Ser)	rs2148090201
NM_001170535.3(ATAD3A):c.1588A>G (p.Ile530Val)	rs766623034
NM_001170629.2(CHD8):c.4744C>T (p.Arg1582Ter)	rs1555314211
NM_001172509.2(SATB2):c.1196G>A (p.Arg399His)	rs1057518190
NM_001177316.2(SLC34A3):c.925+20_926-48del	rs1554784044
NM_001182.5(ALDH7A1):c.1439T>C (p.Ile480Thr)	rs886059849
NM_001184880.2(PCDH19):c.1031C>G (p.Pro344Arg)	rs796052811
NM_001205293.3(CACNA1E):c.1054G>A (p.Gly352Arg)	rs886039323
NM_001206744.2(TPO):c.*63dup	rs749486726
NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu)	rs1554389088
NM_001244008.2(KIF1A):c.914C>T (p.Pro305Leu)	rs1131690804
NM_001244008.2(KIF1A):c.920G>A (p.Arg307Gln)	rs1064793161
NM_001252024.2(TRPM1):c.3571del (p.Glu1191fs)	rs778390089
NM_001256627.2(BRSK2):c.937C>T (p.Arg313Ter)	rs2133120033
NM_001267550.2(TTN):c.11254+1G>C
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter)	rs397517689
NM_001267550.2(TTN):c.89017C>T (p.Arg29673Ter)	rs886038916
NM_001273.5(CHD4):c.3017T>G (p.Val1006Gly)	rs2540396625
NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del)	rs45578238
NM_001278689.2(EOGT):c.1074del (p.Gly359fs)	rs587776994
NM_001278716.2(FBXL4):c.1703G>C (p.Gly568Ala)	rs398123060
NM_001283009.2(RTEL1):c.2141+5G>A	rs398123050
NM_001291415.2(KDM6A):c.3793C>T (p.Arg1265Ter)	rs2148193855
NM_001298.3(CNGA3):c.985G>T (p.Gly329Cys)	rs1558820134
NM_001303052.2(MYT1L):c.1585G>A (p.Gly529Arg)	rs1275489527
NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp)	rs864309503
NM_001312673.2(PCYT1A):c.669G>C (p.Arg223Ser)	rs540053239
NM_001312673.2(PCYT1A):c.990del (p.Ser331fs)	rs587777193
NM_001312909.2(FAM111A):c.1706G>A (p.Arg569His)	rs587777011
NM_001318852.2(MAPK8IP3):c.1735C>T (p.Arg579Cys)	rs1567203083
NM_001318852.2(MAPK8IP3):c.2221T>C (p.Cys741Arg)	rs1417684145
NM_001320.7(CSNK2B):c.292-2A>G	rs1802000298
NM_001320.7(CSNK2B):c.560T>G (p.Leu187Arg)	rs1802055133
NM_001320.7(CSNK2B):c.569T>C (p.Phe190Ser)	rs2536970927
NM_001321075.3(DLG4):c.1083G>A (p.Ser361=)	rs1227093654
NM_001321075.3(DLG4):c.1489C>T (p.Arg497Ter)	rs1567528092
NM_001323289.2(CDKL5):c.436A>G (p.Asn146Asp)	rs2147144038
NM_001329556.3(REEP6):c.598+1G>A	rs751330788
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)	rs587780586
NM_001330260.2(SCN8A):c.2620G>A (p.Ala874Thr)	rs1057524820
NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg)	rs796053216
NM_001330700.2(TOP2B):c.1912G>A (p.Gly638Ser)	rs2125373730
NM_001347721.2(DYRK1A):c.545_548del (p.Lys182fs)	rs1064796367
NM_001347721.2(DYRK1A):c.638-1G>T	rs2148612254
NM_001347721.2(DYRK1A):c.924+4_924+7del	rs1555984461
NM_001349206.2(LPIN1):c.2621+1G>A
NM_001349338.3(FOXP1):c.1541G>A (p.Arg514His)	rs797045586
NM_001349338.3(FOXP1):c.1652+5G>A	rs794727216
NM_001356.5(DDX3X):c.959TAG[1] (p.Val321del)	rs1555953527
NM_001356.5(DDX3X):c.976C>T (p.Arg326Cys)	rs1555953548
NM_001360.3(DHCR7):c.1190C>T (p.Ser397Leu)	rs773134475
NM_001360.3(DHCR7):c.730G>A (p.Gly244Arg)	rs121909764
NM_001360.3(DHCR7):c.964-1G>C	rs138659167
NM_001363711.2(DUOX2):c.2654G>T (p.Arg885Leu)	rs181461079
NM_001363711.2(DUOX2):c.3475CTG[1] (p.Leu1160del)	rs758318135
NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met)	rs1564493599
NM_001367561.1(DOCK7):c.2503A>G (p.Asn835Asp)	rs747830413
NM_001367561.1(DOCK7):c.4384A>G (p.Arg1462Gly)	rs763342949
NM_001367721.1(CASK):c.764G>A (p.Arg255His)	rs587783369
NM_001368894.2(PAX6):c.10+5G>C	rs587776572
NM_001370100.5(ZMYND11):c.1798C>T (p.Arg600Trp)	rs797044854
NM_001371623.1(TCOF1):c.4369_4372del (p.Glu1457fs)	rs2534642231
NM_001372.4(DNAH9):c.308dup (p.Leu104fs)	rs769795916
NM_001374623.1(PNPLA1):c.555C>T (p.Thr185=)	rs748310345
NM_001374828.1(ARID1B):c.2480C>T (p.Ala827Val)	rs2128463445
NM_001374828.1(ARID1B):c.5264-2A>G	rs1794274425
NM_001374828.1(ARID1B):c.5763_5766del (p.Phe1921fs)	rs1554237269
NM_001374828.1(ARID1B):c.5773C>T (p.Arg1925Ter)	rs797045282
NM_001375524.1(TRRAP):c.3104G>A (p.Arg1035Gln)	rs2116495143
NM_001376.5(DYNC1H1):c.2327C>T (p.Pro776Leu)	rs1057518083
NM_001377142.1(PLCB4):c.1924G>A (p.Asp642Asn)	rs1568763104
NM_001378120.1(MBD5):c.3595C>T (p.Leu1199=)	rs2105093530
NM_001378418.1(TCF20):c.2518C>G (p.Pro840Ala)	rs1921140611
NM_001378452.1(ITPR1):c.824C>T (p.Ala275Val)
NM_001378454.1(ALMS1):c.2176dup (p.Tyr726fs)	rs771459937
NM_001378609.3(OTOGL):c.6162_6163del (p.Ala2055fs)	rs754134498
NM_001378969.1(KCND3):c.1174G>A (p.Val392Ile)	rs786205867
NM_001379110.1(SLC9A6):c.2018A>G (p.Asn673Ser)	rs2071570215
NM_001382391.1(CSPP1):c.1187+1G>A	rs2488871242
NM_001385012.1(NBEA):c.2924A>G (p.Lys975Arg)	rs2503622228
NM_001394998.1(TANC2):c.5519G>A (p.Ser1840Asn)	rs2147427904
NM_001395891.1(CLASP1):c.196-570C>T	rs750325275
NM_001429.3(EP300):c.3857A>G	rs1555910821
NM_001429.4(EP300):c.3671+1G>A	rs2059103511
NM_001458.5(FLNC):c.4021C>T (p.Arg1341Ter)	rs1562998062
NM_001563.4(IMPG1):c.1736T>C (p.Leu579Pro)	rs1782008883
NM_001611.5(ACP5):c.772_790del (p.Ser258fs)	rs878853218
NM_001614.5(ACTG1):c.1003C>T (p.Arg335Cys)	rs1568060200
NM_001614.5(ACTG1):c.1004G>A (p.Arg335His)	rs1555666392
NM_001692.4(ATP6V1B1):c.1155dup (p.Ile386fs)	rs781969081
NM_001692.4(ATP6V1B1):c.1181G>A (p.Arg394Gln)	rs1680670309
NM_001759.4(CCND2):c.839C>A (p.Thr280Asn)	rs587777620
NM_001813.3(CENPE):c.2797G>A (p.Asp933Asn)	rs144716013
NM_001830.4(CLCN4):c.1078C>T (p.Arg360Cys)	rs1602157389
NM_001844.5(COL2A1):c.2862C>T (p.Gly954=)	rs367806541
NM_001844.5(COL2A1):c.3136C>T (p.Pro1046Ser)	rs751205887
NM_001845.6(COL4A1):c.2317G>A (p.Gly773Arg)	rs672601347
NM_001845.6(COL4A1):c.2662G>A (p.Gly888Arg)	rs797045034
NM_001848.3(COL6A1):c.1056+1G>A	rs398123631
NM_001848.3(COL6A1):c.1576-2_1576-1del	rs1569518725
NM_001849.4(COL6A2):c.1817-2A>C	rs111697581
NM_001854.4(COL11A1):c.1630-2del	rs1057517989
NM_001875.5(CPS1):c.3980G>A (p.Cys1327Tyr)	rs1553518389
NM_001875.5(CPS1):c.4161G>A (p.Lys1387=)	rs200616712
NM_001876.4(CPT1A):c.693+1G>A	rs1055176086
NM_001918.5(DBT):c.260AAG[1] (p.Glu88del)	rs1217050849
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter)	rs61816761
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs)	rs558269137
NM_002016.2(FLG):c.6950_6957del (p.Ala2316_Ser2317insTer)	rs578184315
NM_002055.5(GFAP):c.197G>A (p.Arg66Gln)	rs797044569
NM_002069.6(GNAI1):c.362C>T (p.Ala121Val)	rs2484433537
NM_002074.5(GNB1):c.233A>G (p.Lys78Arg)	rs869312823
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)	rs752746786
NM_002076.4(GNS):c.926G>A (p.Arg309Lys)	rs750944174
NM_002180.3(IGHMBP2):c.1591C>A (p.Pro531Thr)	rs756985703
NM_002180.3(IGHMBP2):c.449+1G>T	rs797044802
NM_002181.4(IHH):c.518C>A (p.Ala173Asp)	rs2469514140
NM_002437.5(MPV17):c.280-1dup	rs766160589
NM_002465.4(MYBPC1):c.742G>A (p.Glu248Lys)	rs564856283
NM_002473.6(MYH9):c.2114G>A (p.Arg705His)	rs80338828
NM_002522.4(NPTX1):c.1109A>G (p.Gln370Arg)	rs2509777083
NM_002524.5(NRAS):c.175G>A (p.Ala59Thr)	rs730880965
NM_002529.4(NTRK1):c.2046dup (p.Val683fs)	rs2102925337
NM_002615.7(SERPINF1):c.77del (p.Pro26fs)	rs1272920425
NM_002693.3(POLG):c.3104+2_3104+5del	rs761664802
NM_002693.3(POLG):c.3509T>G (p.Leu1170Arg)	rs796052913
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg)	rs886037952
NM_002730.4(PRKACA):c.409G>A (p.Gly137Arg)	rs148280386
NM_002764.4(PRPS1):c.344T>C (p.Met115Thr)	rs80338732
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val)	rs397507547
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly)	rs121918454
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)	rs397507520
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys)	rs121918456
NM_002863.5(PYGL):c.1518G>A (p.Glu506=)	rs748519147
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu)	rs80338796
NM_002971.6(SATB1):c.1574A>G (p.Gln525Arg)	rs1695858904
NM_003000.3(SDHB):c.640C>T (p.Gln214Ter)	rs876658461
NM_003042.4(SLC6A1):c.602C>T (p.Thr201Met)	rs2470210229
NM_003055.3(SLC18A3):c.1192G>C (p.Asp398His)	rs1057517666
NM_003070.5(SMARCA2):c.221A>G (p.His74Arg)	rs2537193288
NM_003070.5(SMARCA2):c.3484C>T (p.Arg1162Cys)	rs1057518414
NM_003072.5(SMARCA4):c.2851G>A (p.Gly951Arg)	rs1060499936
NM_003072.5(SMARCA4):c.3127C>T (p.Arg1043Trp)	rs770014321
NM_003073.5(SMARCB1):c.1087A>G (p.Lys363Glu)	rs797045989
NM_003094.4(SNRPE):c.1A>G (p.Met1Val)	rs587776924
NM_003104.6(SORD):c.757del (p.Ala253fs)	rs55901542
NM_003119.4(SPG7):c.1053dup (p.Gly352fs)	rs760818649
NM_003119.4(SPG7):c.1450-1_1457del	rs768823392
NM_003119.4(SPG7):c.1861C>T (p.Gln621Ter)	rs769258044
NM_003119.4(SPG7):c.2102A>C (p.His701Pro)	rs372180825
NM_003153.5(STAT6):c.1255G>C (p.Asp419His)	rs11172102
NM_003172.4(SURF1):c.324-11T>G	rs375398247
NM_003193.5(TBCE):c.155_166del (p.Ser52_Gly55del)	rs767004810
NM_003238.6(TGFB2):c.905G>A (p.Arg302His)	rs1553303213
NM_003238.6(TGFB2):c.958C>T (p.Arg320Cys)	rs1553303352
NM_003282.4(TNNI2):c.525G>T (p.Lys175Asn)	rs797046046
NM_003322.6(TULP1):c.1318C>T (p.Arg440Ter)	rs751589956
NM_003361.4(UMOD):c.317G>A (p.Cys106Tyr)	rs398123697
NM_003477.3(PDHX):c.557del (p.Pro186fs)	rs2494708862
NM_003482.4(KMT2D):c.10744C>T (p.Arg3582Trp)	rs1943085639
NM_003482.4(KMT2D):c.15460C>T (p.Arg5154Trp)	rs768551828
NM_003482.4(KMT2D):c.16338+1G>T	rs1555184782
NM_003482.4(KMT2D):c.16501C>T (p.Arg5501Ter)	rs886041398
NM_003482.4(KMT2D):c.1967del (p.Leu656fs)	rs772870804
NM_003482.4(KMT2D):c.8053C>T (p.Arg2685Ter)	rs587783727
NM_003482.4(KMT2D):c.858dup (p.Lys287Ter)	rs1592159924
NM_003491.4(NAA10):c.346C>T (p.Arg116Trp)	rs587780563
NM_003560.4(PLA2G6):c.1435C>G (p.His479Asp)	rs1235695530
NM_003560.4(PLA2G6):c.2218G>A (p.Gly740Arg)
NM_003718.5(CDK13):c.2149G>A (p.Gly717Arg)	rs1057519632
NM_003718.5(CDK13):c.2638C>T (p.Arg880Cys)	rs1005618432
NM_003722.5(TP63):c.797G>A (p.Arg266Gln)	rs121908849
NM_003722.5(TP63):c.953G>A (p.Arg318His)	rs121908840
NM_003742.4(ABCB11):c.677C>T (p.Ser226Leu)	rs1382100120
NM_003797.5(EED):c.581A>G (p.Asn194Ser)	rs1945710855
NM_003849.3(SUCLG1):c.-39C>A	rs144946502
NM_003849.4(SUCLG1):c.40A>T (p.Met14Leu)	rs796052053
NM_003859.3(DPM1):c.455G>T (p.Gly152Val)	rs587777116
NM_003922.4(HERC1):c.11407G>A (p.Val3803Ile)	rs1025829736
NM_003982.4(SLC7A7):c.713C>T (p.Ser238Phe)	rs386833823
NM_004004.6(GJB2):c.176_191del (p.Gly59fs)	rs750188782
NM_004004.6(GJB2):c.334_335del (p.Lys112fs)	rs756484720
NM_004006.3(DMD):c.1351G>T (p.Asp451Tyr)	rs1602169535
NM_004068.4(AP2M1):c.508C>T (p.Arg170Trp)	rs1577059692
NM_004092.4(ECHS1):c.2T>G (p.Met1Arg)	rs587776497
NM_004113.6(FGF12):c.155G>A (p.Arg52His)	rs886039903
NM_004333.6(BRAF):c.1722C>G (p.His574Gln)	rs397507481
NM_004333.6(BRAF):c.1783T>C (p.Phe595Leu)	rs794729219
NM_004333.6(BRAF):c.823G>A (p.Glu275Lys)	rs2129044284
NM_004373.4(COX6A1):c.247-7_247-3del	rs587777783
NM_004415.4(DSP):c.7097G>A (p.Arg2366His)	rs387906618
NM_004446.3(EPRS1):c.2747G>A (p.Arg916Gln)	rs761131320
NM_004453.4(ETFDH):c.1074G>C (p.Arg358Ser)	rs2479121069
NM_004453.4(ETFDH):c.1388G>A (p.Gly463Asp)	rs1561251388
NM_004456.5(EZH2):c.386A>G (p.His129Arg)	rs2129477011
NM_004463.3(FGD1):c.527dup (p.Leu177fs)	rs756586058
NM_004465.2(FGF10):c.577C>T (p.Arg193Ter)	rs104893884
NM_004519.4(KCNQ3):c.988C>T (p.Arg330Cys)	rs118192251
NM_004523.4(KIF11):c.2312_2313del (p.Lys771fs)	rs1844907904
NM_004523.4(KIF11):c.2514_2518del (p.Asn838fs)	rs2492536872
NM_004539.4(NARS1):c.1600C>T (p.Arg534Ter)	rs2051507892
NM_004628.5(XPC):c.2216_2217del (p.Glu739fs)	rs1559369237
NM_004629.2(FANCG):c.552dup (p.Ser185fs)	rs1412207017
NM_004646.4(NPHS1):c.2156_2163del (p.Leu719fs)	rs386833903
NM_004646.4(NPHS1):c.515_517del (p.Thr172del)	rs386833947
NM_004859.4(CLTC):c.2590G>A (p.Ala864Thr)	rs2509144215
NM_004937.3(CTNS):c.1036_1047del (p.Asp346_Phe349del)	rs771552404
NM_004937.3(CTNS):c.323del (p.Gln108fs)	rs879255615
NM_004937.3(CTNS):c.768dup (p.Val257fs)	rs1567713938
NM_004984.4(KIF5A):c.416A>G (p.Tyr139Cys)	rs2140159368
NM_004985.5(KRAS):c.37G>T (p.Gly13Cys)	rs121913535
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg)	rs587776934
NM_005052.3(RAC3):c.176C>G (p.Ala59Gly)	rs1379395211
NM_005120.3(MED12):c.3412C>T (p.Arg1138Trp)	rs1057523906
NM_005120.3(MED12):c.3443G>A (p.Arg1148His)	rs387907360
NM_005120.3(MED12):c.4147G>A (p.Ala1383Thr)	rs863223696
NM_005120.3(MED12):c.887G>A (p.Arg296Gln)	rs1556334519
NM_005157.6(ABL1):c.677A>G (p.Tyr226Cys)	rs1060499547
NM_005157.6(ABL1):c.944C>T (p.Thr315Ile)	rs121913459
NM_005214.5(CTLA4):c.410C>T (p.Pro137Leu)	rs1553657429
NM_005249.5(FOXG1):c.620T>C (p.Ile207Thr)	rs1881803464
NM_005251.3(FOXC2):c.297C>G (p.Tyr99Ter)	rs104894516
NM_005267.5(GJA8):c.151G>A (p.Asp51Asn)	rs864309703
NM_005271.5(GLUD1):c.1466C>G (p.Pro489Arg)	rs2133788907
NM_005271.5(GLUD1):c.965G>A (p.Arg322His)	rs121909737
NM_005321.3(H1-4):c.430dup (p.Ala144fs)	rs1131690805
NM_005324.5(H3-3B):c.377A>G (p.Gln126Arg)	rs2143629984
NM_005445.4(SMC3):c.1942A>G (p.Met648Val)	rs886041239
NM_005518.4(HMGCS2):c.1502G>C (p.Arg501Pro)	rs372079931
NM_005585.5(SMAD6):c.531C>G (p.Tyr177Ter)	rs760571406
NM_005591.4(MRE11):c.1927-2A>G	rs587781822
NM_005609.4(PYGM):c.580del (p.Arg194fs)	rs2496668596
NM_005629.4(SLC6A8):c.1864G>C (p.Val622Leu)	rs1160275875
NM_005633.4(SOS1):c.2197A>T (p.Ile733Phe)	rs574088829
NM_005639.3(SYT1):c.1098C>A (p.Asp366Glu)	rs1565962725
NM_005797.4(MPZL2):c.68del (p.Pro23fs)	rs1167608859
NM_005859.5(PURA):c.691TTC[2] (p.Phe233del)	rs786204835
NM_005862.3(STAG1):c.1118G>A (p.Arg373Gln)	rs1376334317
NM_005908.4(MANBA):c.2356A>G (p.Asn786Asp)	rs111353791
NM_005912.3(MC4R):c.811T>C (p.Cys271Arg)	rs1057517991
NM_005957.5(MTHFR):c.346G>A (p.Ala116Thr)	rs1056919085
NM_005982.4(SIX1):c.373G>A (p.Glu125Lys)	rs797044960
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val)	rs387906930
NM_006009.4(TUBA1A):c.641G>A (p.Arg214His)	rs1057517843
NM_006019.4(TCIRG1):c.480dup (p.Pro161fs)	rs1554995341
NM_006035.4(CDC42BPB):c.2599C>T (p.Arg867Cys)	rs1595472764
NM_006086.4(TUBB3):c.292G>A (p.Gly98Ser)	rs587784505
NM_006086.4(TUBB3):c.785G>A (p.Arg262His)	rs864321716
NM_006086.4(TUBB3):c.862G>A (p.Glu288Lys)	rs1057521924
NM_006087.4(TUBB4A):c.1228G>A (p.Glu410Lys)	rs587777428
NM_006087.4(TUBB4A):c.568C>T (p.His190Tyr)	rs761635539
NM_006087.4(TUBB4A):c.736C>G (p.Leu246Val)	rs2145244734
NM_006087.4(TUBB4A):c.785G>A (p.Arg262His)	rs886039470
NM_006129.5(BMP1):c.747C>G (p.Phe249Leu)	rs398122891
NM_006158.5(NEFL):c.18C>G (p.Tyr6Ter)	rs2117256073
NM_006204.4(PDE6C):c.1336G>T (p.Glu446Ter)	rs1410436651
NM_006218.4(PIK3CA):c.1345C>A (p.Pro449Thr)	rs1724674149
NM_006218.4(PIK3CA):c.1635G>T (p.Glu545Asp)	rs121913275
NM_006236.3(POU3F3):c.1220G>T (p.Arg407Leu)	rs1573320988
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)	rs863225082
NM_006306.4(SMC1A):c.2351T>C (p.Ile784Thr)	rs387906702
NM_006306.4(SMC1A):c.2611C>T (p.Gln871Ter)	rs2075652085
NM_006306.4(SMC1A):c.2948A>G (p.Tyr983Cys)	rs1556887759
NM_006348.5(COG5):c.2295+2T>C
NM_006364.4(SEC23A):c.1795G>A (p.Glu599Lys)	rs2139193533
NM_006516.4(SLC2A1):c.100A>G (p.Asn34Asp)	rs587784390
NM_006517.5(SLC16A2):c.1111C>T (p.Arg371Cys)	rs587784384
NM_006521.6(TFE3):c.560C>T (p.Thr187Met)	rs2064742925
NM_006545.5(NPRL2):c.232C>T (p.Arg78Cys)	rs2470938044
NM_006545.5(NPRL2):c.883C>T (p.Arg295Ter)	rs886037964
NM_006565.4(CTCF):c.2139C>A (p.Asn713Lys)	rs146712579
NM_006567.5(FARS2):c.925G>A (p.Gly309Ser)	rs746746116
NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs)	rs869312704
NM_006593.4(TBR1):c.358C>T (p.Pro120Ser)	rs1559059936
NM_006642.5(SDCCAG8):c.1120C>T (p.Arg374Ter)	rs770084716
NM_006662.3(SRCAP):c.6985C>T (p.Arg2329Ter)	rs1555465891
NM_006662.3(SRCAP):c.7993C>T (p.Gln2665Ter)	rs587784444
NM_006734.4(HIVEP2):c.272C>T (p.Pro91Leu)	rs2482857854
NM_006734.4(HIVEP2):c.2827C>T (p.Arg943Ter)	rs869312841
NM_006766.5(KAT6A):c.4645G>A (p.Gly1549Ser)	rs1064794000
NM_006766.5(KAT6A):c.593A>C (p.Lys198Thr)	rs200651017
NM_006772.3(SYNGAP1):c.1474A>G (p.Lys492Glu)	rs1554121344
NM_006772.3(SYNGAP1):c.1717C>T (p.Arg573Trp)	rs1064795331
NM_006772.3(SYNGAP1):c.509G>A (p.Arg170Gln)	rs1057519546
NM_006793.5(PRDX3):c.508C>T (p.Arg170Ter)	rs140609531
NM_006796.3(AFG3L2):c.1010G>A (p.Gly337Glu)	rs1908566777
NM_006852.6(TLK2):c.1550+1G>A	rs2147105351
NM_006859.4(LIAS):c.1106_1110del (p.Thr369fs)	rs1560674852
NM_006908.5(RAC1):c.191A>G (p.Tyr64Cys)	rs2115201389
NM_006912.6(RIT1):c.112A>G (p.Thr38Ala)	rs1557962699
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly)	rs869025193
NM_006912.6(RIT1):c.244T>G (p.Phe82Val)	rs869025194
NM_006912.6(RIT1):c.247A>C (p.Thr83Pro)	rs869025195
NM_006912.6(RIT1):c.578T>C (p.Met193Thr)	rs1442986615
NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr)	rs1057518801
NM_006941.4(SOX10):c.1400_*10del (p.Ter467Xaa)	rs397515368
NM_006946.4(SPTBN2):c.1310G>A (p.Arg437Gln)	rs1554986337
NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser)	rs61736587
NM_007055.4(POLR3A):c.1771-6C>G	rs115020338
NM_007055.4(POLR3A):c.1771-7C>G	rs201314157
NM_007118.4(TRIO):c.4283G>A (p.Arg1428Gln)	rs879255626
NM_007129.5(ZIC2):c.800G>A (p.Ser267Asn)	rs2501544777
NM_007192.4(SUPT16H):c.2200C>T (p.Arg734Trp)	rs2139399670
NM_007279.3(U2AF2):c.448C>T (p.Arg150Cys)	rs2123678139
NM_007289.4(MME):c.467del (p.Pro156fs)	rs749320057
NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del)	rs80358343
NM_007327.4(GRIN1):c.1643G>A (p.Arg548Gln)	rs1554770044
NM_007327.4(GRIN1):c.1921A>G (p.Met641Val)	rs2131299136
NM_007327.4(GRIN1):c.1921A>T (p.Met641Leu)	rs2131299136
NM_012193.4(FZD4):c.1282_1285del (p.Asp428fs)	rs80358295
NM_012193.4(FZD4):c.1501_1502del (p.Leu501fs)	rs80358303
NM_013275.6(ANKRD11):c.1977C>G (p.Tyr659Ter)	rs749201074
NM_013275.6(ANKRD11):c.2175_2178del (p.Asn725fs)	rs886039734
NM_013275.6(ANKRD11):c.2327T>G (p.Leu776Ter)	rs1597461100
NM_013275.6(ANKRD11):c.3783C>G (p.Asp1261Glu)	rs1294714307
NM_013275.6(ANKRD11):c.4107_4108del (p.Lys1370fs)	rs2544234255
NM_013275.6(ANKRD11):c.4396_4397del (p.Arg1466fs)	rs2151750068
NM_013275.6(ANKRD11):c.601+11_601+37del	rs2544304935
NM_013275.6(ANKRD11):c.6836_6837del (p.Val2279fs)	rs1555525296
NM_013275.6(ANKRD11):c.7534C>T (p.Arg2512Trp)	rs2033536147
NM_013275.6(ANKRD11):c.7535G>A (p.Arg2512Gln)	rs2033535934
NM_013275.6(ANKRD11):c.7606C>T (p.Arg2536Trp)	rs2151701893
NM_013275.6(ANKRD11):c.7822C>T (p.Arg2608Trp)	rs1597389370
NM_013335.4(GMPPA):c.592T>C (p.Phe198Leu)	rs773715630
NM_014014.5(SNRNP200):c.2042G>A (p.Arg681His)	rs527236113
NM_014141.6(CNTNAP2):c.1361_1362del (p.Asn454fs)	rs1794916576
NM_014141.6(CNTNAP2):c.3262C>T (p.Arg1088Ter)	rs766777011
NM_014225.6(PPP2R1A):c.539T>C (p.Met180Thr)	rs1600167941
NM_014225.6(PPP2R1A):c.656C>T (p.Ser219Leu)	rs1555791268
NM_014225.6(PPP2R1A):c.773G>A (p.Arg258His)	rs863225094
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys)	rs1555582065
NM_014249.4(NR2E3):c.194_202del (p.Asn65_Cys67del)	rs1555454566
NM_014268.4(MAPRE2):c.427C>T (p.Arg143Cys)	rs864309720
NM_014363.6(SACS):c.13132C>T (p.Arg4378Ter)	rs747868017
NM_014363.6(SACS):c.9346_9354dup (p.Lys3116_Pro3118dup)	rs2137584629
NM_014423.4(AFF4):c.773G>A (p.Arg258Gln)	rs2150098310
NM_014458.4(KLHL20):c.1069G>A (p.Gly357Arg)	rs1673582111
NM_014516.4(CNOT3):c.311G>A (p.Ser104Asn)	rs2517346791
NM_014625.4(NPHS2):c.467dup (p.Leu156fs)	rs528833893
NM_014704.4(CEP104):c.1144C>G (p.Arg382Gly)	rs374824835
NM_014704.4(CEP104):c.2246A>C (p.Tyr749Ser)	rs533659013
NM_014727.3(KMT2B):c.5114G>A (p.Arg1705Gln)	rs1555731980
NM_014795.4(ZEB2):c.3353C>T (p.Pro1118Leu)	rs780004720
NM_014846.4(WASHC5):c.1876G>T (p.Val626Phe)	rs80338867
NM_014874.4(MFN2):c.839G>A (p.Arg280His)	rs28940294
NM_014946.4(SPAST):c.1340T>C (p.Leu447Ser)	rs2148753950
NM_014946.4(SPAST):c.1496G>A (p.Arg499His)	rs878854991
NM_014946.4(SPAST):c.1507C>T (p.Arg503Trp)	rs864622162
NM_014946.4(SPAST):c.1728+2T>G	rs1553319874
NM_015001.3(SPEN):c.5806C>T (p.Arg1936Ter)	rs2071226510
NM_015100.4(POGZ):c.3456_3457del (p.Glu1154fs)	rs869320764
NM_015154.3(MESD):c.631_632del (p.Lys211fs)	rs745891632
NM_015166.4(MLC1):c.634G>A (p.Gly212Arg)	rs281875317
NM_015166.4(MLC1):c.917T>A (p.Leu306Gln)	rs768711345
NM_015295.3(SMCHD1):c.408A>C (p.Glu136Asp)	rs1057519643
NM_015335.5(MED13L):c.1010G>A (p.Gly337Asp)	rs2499932052
NM_015335.5(MED13L):c.2065C>T (p.Gln689Ter)	rs1592940794
NM_015335.5(MED13L):c.2597C>T (p.Pro866Leu)	rs1555246145
NM_015443.4(KANSL1):c.2542-1G>A	rs111514883
NM_015570.4(AUTS2):c.1527C>A (p.Asp509Glu)	rs2484682116
NM_015915.5(ATL1):c.461A>G (p.Gln154Arg)	rs1060502971
NM_016023.5(OTUD6B):c.192_195del (p.Glu65fs)	rs748735420
NM_016032.4(ZDHHC9):c.544C>T (p.Arg182Cys)	rs2124105703
NM_016188.5(ACTL6B):c.1027G>T (p.Gly343Trp)	rs1131692228
NM_016188.5(ACTL6B):c.1219T>C (p.Trp407Arg)	rs2131330754
NM_016239.4(MYO15A):c.10247CCT[1] (p.Ser3417del)	rs760069953
NM_016239.4(MYO15A):c.8601+2T>G	rs2545301360
NM_016239.4(MYO15A):c.900del (p.Pro301fs)	rs2142242418
NM_016648.4(LARP7):c.297_303+2del	rs2149262033
NM_017739.4(POMGNT1):c.1814G>C (p.Arg605Pro)	rs267606962
NM_017780.4(CHD7):c.3205C>T (p.Arg1069Ter)	rs886040985
NM_017780.4(CHD7):c.4015C>T (p.Arg1339Ter)	rs1563644066
NM_017780.4(CHD7):c.7164+1G>A	rs2129644267
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del)	rs768422260
NM_017934.7(PHIP):c.1186C>T (p.Arg396Ter)	rs2127741566
NM_018075.5(ANO10):c.132dup (p.Asp45fs)	rs540331226
NM_018116.4(MSTO1):c.1259del (p.Gly420fs)	rs1248439783
NM_018191.4(RCBTB1):c.707del (p.Asn236fs)	rs777630688
NM_018230.3(NUP133):c.691C>G (p.Arg231Gly)	rs1558108130
NM_018294.6(CWF19L1):c.1158dup (p.Lys387fs)	rs1589611043
NM_018418.5(SPATA7):c.20_23delTCAG	rs527236050
NM_018486.3(HDAC8):c.111+6G>A	rs2147618314
NM_018713.3(SLC30A10):c.1006C>T (p.His336Tyr)	rs770740586
NM_018972.4(GDAP1):c.193G>A (p.Glu65Lys)	rs1808862287
NM_019066.5(MAGEL2):c.2057G>A (p.Trp686Ter)	rs768844200
NM_019098.5(CNGB3):c.446_447insT (p.Lys149fs)	rs748993388
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp)	rs886039763
NM_020070.4(IGLL1):c.258del (p.Gln88fs)	rs532338576
NM_020320.5(RARS2):c.1A>G (p.Met1Val)	rs774923951
NM_020401.4(NUP107):c.469G>T (p.Asp157Tyr)	rs864321633
NM_020451.3(SELENON):c.1222G>T (p.Glu408Ter)	rs777659233
NM_020631.6(PLEKHG5):c.1132-2A>C	rs1557742277
NM_020661.4(AICDA):c.568C>T (p.Arg190Ter)	rs769399833
NM_020702.5(MYORG):c.1086CTTCGA[1] (p.363FD[1])	rs1398218251
NM_020719.3(PRR12):c.3625C>T (p.Arg1209Ter)	rs2122304074
NM_020806.5(GPHN):c.127G>A (p.Val43Ile)	rs117256383
NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln)	rs886043455
NM_020928.2(ZSWIM6):c.2737C>T (p.Arg913Ter)	rs1554041295
NM_021005.4(NR2F2):c.210GCA[6] (p.Gln75dup)	rs780808943
NM_021625.5(TRPV4):c.806G>A (p.Arg269His)	rs267607144
NM_021830.5(TWNK):c.1075G>A (p.Ala359Thr)	rs111033573
NM_021939.4(FKBP10):c.831dup (p.Gly278fs)	rs137853883
NM_022124.6(CDH23):c.8204T>C (p.Leu2735Pro)	rs1060499790
NM_022336.4(EDAR):c.719_722del (p.Lys240fs)	rs797044436
NM_022356.4(P3H1):c.916del (p.Tyr306fs)	rs2124140276
NM_024105.4(ALG12):c.1001del (p.Asn334fs)	rs759244819
NM_024105.4(ALG12):c.424T>G (p.Phe142Val)	rs28942090
NM_024298.5(MBOAT7):c.1062C>A (p.Tyr354Ter)	rs2076017638
NM_024301.5(FKRP):c.160C>T (p.Arg54Trp)	rs28937905
NM_024306.5(FA2H):c.103G>T (p.Asp35Tyr)	rs121918217
NM_024408.4(NOTCH2):c.6909dup (p.Ile2304fs)	rs771237928
NM_024417.5(FDXR):c.463C>T (p.Arg155Trp)	rs752675360
NM_024426.6(WT1):c.1447+4C>T	rs587776577
NM_024496.4(IRF2BPL):c.1489C>T (p.Gln497Ter)	rs2140377628
NM_024577.4(SH3TC2):c.3676-8G>A	rs772823083
NM_024665.7(TBL1XR1):c.970T>G (p.Ser324Ala)	rs2108437312
NM_024685.4(BBS10):c.530A>G (p.Tyr177Cys)	rs1555202700
NM_024685.4(BBS10):c.728_731del (p.Lys243fs)	rs786204671
NM_024876.4(COQ8B):c.1430G>A (p.Arg477Gln)	rs1057519347
NM_025114.4(CEP290):c.4792_4795del (p.Lys1598fs)	rs1592833648
NM_025114.4(CEP290):c.7341dup (p.Leu2448fs)	rs281865189
NM_025137.4(SPG11):c.2146C>T (p.Gln716Ter)	rs312262737
NM_025137.4(SPG11):c.6754+2_6754+3dup	rs759090170
NM_025137.4(SPG11):c.6999+1G>A	rs1191614292
NM_025216.3(WNT10A):c.1124T>C (p.Met375Thr)	rs773598047
NM_030954.4(RNF170):c.304T>C (p.Cys102Arg)	rs1183403793
NM_031263.4(HNRNPK):c.253G>A (p.Glu85Lys)	rs1554700678
NM_031263.4(HNRNPK):c.886C>T (p.Arg296Ter)	rs2491969421
NM_031407.7(HUWE1):c.9208C>T (p.Arg3070Cys)	rs886041876
NM_031418.4(ANO3):c.1943A>G (p.Asn648Ser)	rs1590658782
NM_031443.4(CCM2):c.472+1G>C	rs745710633
NM_031448.6(C19orf12):c.161-2del	rs1352744778
NM_031448.6(C19orf12):c.171_181del (p.Gly58fs)	rs515726204
NM_031448.6(C19orf12):c.371dup (p.Met124fs)	rs1568326754
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp)	rs78635798
NM_032271.3(TRAF7):c.1112G>A (p.Arg371Gln)	rs1567252663
NM_032271.3(TRAF7):c.1964G>A (p.Arg655Gln)	rs1331463984
NM_032581.4(HYCC1):c.722T>G (p.Leu241Ter)	rs2128200575
NM_032856.5(WDR73):c.287G>A (p.Arg96Lys)	rs797044995
NM_032861.4(SERAC1):c.1167_1170del	rs772296795
NM_033380.3(COL4A5):c.1120G>A (p.Gly374Arg)	rs2066342176
NM_033380.3(COL4A5):c.1588-10C>G	rs1603290097
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg)	rs104886189
NM_033380.3(COL4A5):c.3088G>A (p.Gly1030Ser)	rs104886210
NM_033380.3(COL4A5):c.4706G>A (p.Arg1569Gln)	rs281874743
NM_033380.3(COL4A5):c.476G>A (p.Gly159Asp)	rs2147759208
NM_033419.5(PGAP3):c.557G>C (p.Arg186Thr)	rs2145100763
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del)	rs79318303
NM_052867.4(NALCN):c.1639A>G (p.Met547Val)	rs1057519432
NM_052867.4(NALCN):c.3064A>G (p.Ile1022Val)	rs1555381108
NM_052867.4(NALCN):c.537del (p.Ile178_Trp179insTer)	rs1594759803
NM_052876.4(NACC1):c.892C>T (p.Arg298Trp)	rs1060505041
NM_078480.3(PUF60):c.612_630del (p.Asn207fs)	rs1816565452
NM_130837.3(OPA1):c.1035+5G>A	rs754576717
NM_130837.3(OPA1):c.2873_2876del	rs80356530
NM_133330.3(NSD2):c.1676_1679del	rs1553873247
NM_133433.4(NIPBL):c.2T>A (p.Met1Lys)	rs121918264
NM_133433.4(NIPBL):c.5366G>A (p.Arg1789Gln)	rs80358380
NM_138383.3(MTSS2):c.2011C>T (p.Arg671Trp)	rs753688777
NM_138615.3(DHX30):c.2353C>T (p.Arg785Cys)	rs1085307451
NM_138694.4(PKHD1):c.1830T>A (p.Tyr610Ter)	rs749293235
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp)	rs370277502
NM_138701.4(MPLKIP):c.135C>G (p.Tyr45Ter)
NM_138927.4(SON):c.1881_1882del (p.Val629fs)	rs1569053308
NM_138927.4(SON):c.3334C>T (p.Arg1112Ter)	rs1064796472
NM_138927.4(SON):c.4897_4900del (p.Thr1633fs)
NM_138927.4(SON):c.5753_5756del (p.Val1918fs)	rs886039773
NM_138967.4(SCAMP5):c.538G>T (p.Gly180Trp)	rs1184981709
NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup)	rs387906492
NM_139276.3(STAT3):c.1261G>A (p.Gly421Arg)	rs869312888
NM_144599.5(NIPA1):c.316G>A (p.Gly106Arg)	rs104894490
NM_144991.3(TSPEAR):c.1785AGA[1] (p.Glu596del)	rs782084367
NM_145059.3(FCSK):c.1000_1018del (p.Glu335fs)	rs772518056
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)	rs587778771
NM_145331.3(MAP3K7):c.143G>A (p.Gly48Glu)	rs1776911945
NM_148960.3(CLDN19):c.269T>G (p.Leu90Arg)	rs118203981
NM_152296.5(ATP1A3):c.1825G>T (p.Asp609Tyr)	rs2075190697
NM_152296.5(ATP1A3):c.829G>A (p.Glu277Lys)	rs80356533
NM_152424.4(AMER1):c.1489C>T (p.Arg497Ter)	rs1930251154
NM_152443.3(RDH12):c.146C>A (p.Thr49Lys)	rs28940314
NM_152443.3(RDH12):c.505C>G (p.Arg169Gly)	rs761167763
NM_152558.5(IQCE):c.895_904del (p.Val301fs)	rs773701437
NM_152564.5(VPS13B):c.5734_5735del (p.Ile1912fs)	rs386834098
NM_152564.5(VPS13B):c.7146del (p.Gln2382fs)	rs386834105
NM_153704.6(TMEM67):c.244C>T (p.Pro82Ser)	rs762543032
NM_170606.3(KMT2C):c.10054C>G (p.Gln3352Glu)	rs2092568887
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp)	rs58932704
NM_170707.4(LMNA):c.1968+5G>A	rs797044488
NM_172362.3(KCNH1):c.1070G>A (p.Arg357Gln)	rs886041300
NM_173354.5(SIK1):c.538_539del (p.Leu180fs)
NM_173660.5(DOK7):c.1263del (p.Ser422fs)	rs606231129
NM_173660.5(DOK7):c.1327C>T (p.Pro443Ser)	rs748946433
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg)	rs869312840
NM_178014.4(TUBB):c.895A>G (p.Met299Val)	rs587777355
NM_178138.6(LHX3):c.79+1813G>C	rs886063706
NM_181523.3(PIK3R1):c.1892G>A (p.Arg631Gln)	rs515726149
NM_181882.3(PRX):c.3098del (p.Thr1033fs)	rs2145727241
NM_182760.4(SUMF1):c.536G>C (p.Trp179Ser)	rs757323641
NM_182916.3(TRNT1):c.644A>G (p.His215Arg)
NM_183075.3(CYP2U1):c.784T>C (p.Cys262Arg)	rs397514515
NM_183357.3(ADCY5):c.1252C>T (p.Arg418Trp)	rs864309483
NM_183381.3(RNF13):c.881_882del (p.Asp293_Ser294insTer)	rs2108622234
NM_197968.4(ZMYM2):c.3583C>T (p.Arg1195Ter)
NM_198239.2(CCN6):c.246del (p.Glu84fs)	rs797044438
NM_198239.2(CCN6):c.740_741del (p.Cys247fs)	rs727503755
NM_198252.3(GSN):c.487G>T (p.Asp163Tyr)	rs121909715
NM_198282.4(STING1):c.457T>A (p.Phe153Ile)	rs2152094234
NM_198576.4(AGRN):c.3001C>A (p.Pro1001Thr)	rs752212460
NM_198904.4(GABRG2):c.269C>T (p.Thr90Met)	rs1057520498
NM_198904.4(GABRG2):c.373C>T (p.Arg125Cys)	rs2113325423
NM_199242.3(UNC13D):c.3049G>A (p.Glu1017Lys)	rs776737156
NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter)	rs150412614
NM_206933.4(USH2A):c.10585+1G>A	rs2102763351
NM_206933.4(USH2A):c.1190T>A (p.Ile397Lys)	rs2037684112
NM_206933.4(USH2A):c.14288G>A (p.Gly4763Glu)	rs781195579
NM_206933.4(USH2A):c.6722C>T (p.Pro2241Leu)	rs1057518826
NM_206943.4(LTBP1):c.1342C>T (p.Gln448Ter)	rs1441358067
NM_207361.6(FREM2):c.437C>G (p.Pro146Arg)	rs564740435
NM_207391.3(RGS9BP):c.614dup (p.Cys206fs)	rs757764760
NM_207581.4(DUOXA2):c.738C>G (p.Tyr246Ter)	rs4774518
NM_213599.3(ANO5):c.191dup (p.Asn64fs)	rs137854521
NR_003051.3(RMRP):n.-24_-1dup	rs1823632816
NR_003051.4(RMRP):n.129G>A	rs74810894
NR_023343.3(RNU4ATAC):n.50G>A	rs181195449
NR_033294.2(SNORD118):n.82A>G	rs779456932