Variants from NIHR Bioresource Rare Diseases, University of Cambridge with conflicting interpretations

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

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

Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
1310	261	3	283	18	6	136	409

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
NIHR Bioresource Rare Diseases, University of Cambridge		pathogenic	likely pathogenic	uncertain significance	likely benign	benign	protective	other
	pathogenic	3	52	14	2	2	0	2
	likely pathogenic	226	0	94	12	7	1	3
	uncertain significance	16	13	0	12	6	0	1
	likely benign	1	0	4	0	7	0	0
	benign	0	0	0	1	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	75	2	62	10	0	30	102
GeneDx	0	53	1	40	3	0	23	66
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	37	0	35	6	0	24	64
OMIM	0	21	1	38	0	5	7	51
PreventionGenetics, part of Exact Sciences	0	30	0	19	4	0	9	32
Blueprint Genetics	0	19	0	29	0	0	1	30
Fulgent Genetics, Fulgent Genetics	0	24	0	25	0	0	5	30
CeGaT Center for Human Genetics Tuebingen	0	28	0	17	4	0	8	29
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	0	25	0	22	0	0	6	28
Illumina Laboratory Services, Illumina	0	16	0	13	3	0	10	25
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	25	0	18	3	0	3	24
Mayo Clinic Laboratories, Mayo Clinic	0	27	0	12	3	0	10	24
Revvity Omics, Revvity	0	14	0	17	0	0	7	24
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	0	39	0	15	0	0	9	23
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	13	3	13	1	0	4	21
Mendelics	0	8	0	15	0	0	4	19
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	22	0	11	0	0	6	17
Department of Pathology and Laboratory Medicine, Sinai Health System	0	6	0	10	0	0	7	17
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	16	0	16	0	0	1	17
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen	0	11	0	8	0	0	8	16
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	0	22	0	11	0	0	5	16
Eurofins Ntd Llc (ga)	0	9	0	7	0	1	8	14
3billion	0	13	0	13	0	0	0	13
Institute of Human Genetics, University of Leipzig Medical Center	0	1	0	12	0	0	1	13
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	0	10	0	13	0	0	0	13
Dasa	0	8	0	10	0	0	2	12
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	0	9	0	9	0	0	3	12
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel	0	8	0	11	0	0	1	12
Clingen Thrombosis Variant Curation Expert Panel, ClinGen	0	1	0	6	0	0	5	11
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	7	0	9	0	0	2	11
Quest Diagnostics Nichols Institute San Juan Capistrano	0	4	0	4	2	0	6	11
Genetics and Molecular Pathology, SA Pathology	0	12	0	9	0	0	1	10
Baylor Genetics	0	5	0	8	0	0	1	9
First Genomix Gene Laboratory, Genetic Diagnostics Department	0	5	0	7	0	0	2	9
Sharon lab, Hadassah-Hebrew University Medical Center	0	11	0	9	0	0	0	9
Variantyx, Inc.	0	9	0	9	0	0	0	9
Juno Genomics, Hangzhou Juno Genomics, Inc	0	3	0	8	0	0	0	8
Natera, Inc.	0	10	0	7	0	0	1	8
Clingen Pulmonary Hypertension Variant Curation Expert Panel, ClinGen	0	8	0	4	0	0	3	7
Genetic Services Laboratory, University of Chicago	0	6	0	5	2	0	0	7
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	10	0	6	0	0	1	7
Athena Diagnostics	0	4	0	4	0	0	3	6
Laboratory of Genetics, Children's Clinical University Hospital Latvia	0	6	0	6	0	0	0	6
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana	0	3	0	6	0	0	0	6
Ambry Genetics	0	0	0	3	0	0	3	5
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals	0	1	0	3	0	0	2	5
Counsyl	0	6	0	2	0	0	3	5
Dept Of Ophthalmology, Nagoya University	0	5	0	5	0	0	0	5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	6	0	3	0	0	2	5
Institute of Human Genetics Munich, TUM University Hospital	0	1	0	5	0	0	0	5
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	0	2	0	3	0	0	2	5
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	0	1	0	4	0	0	0	4
ClinGen Hereditary Hemorrhagic Telangiectasia Variant Curation Expert Panel, ClinGen	0	3	0	4	0	0	0	4
Clinical Genetics, Academic Medical Center	0	2	0	3	0	0	1	4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	3	0	3	0	0	1	4
Genome Diagnostics Laboratory, Amsterdam University Medical Center	0	2	0	4	0	0	0	4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	1	0	3	0	0	1	4
MGZ Medical Genetics Center	0	2	0	4	0	0	0	4
Myriad Genetics, Inc.	0	3	0	3	0	0	1	4
NIHR Bioresource Rare Diseases, University of Cambridge	1964	12	0	2	0	0	2	4
Neuberg Centre For Genomic Medicine, NCGM	0	6	0	3	0	0	1	4
Ocular Genomics Institute, Massachusetts Eye and Ear	0	2	0	4	0	0	0	4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	0	1	0	4	0	0	1	4
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	0	10	0	1	1	0	1	3
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	3	0	3	0	0	0	3
Centre of Medical Genetics, University Hospital Muenster	0	2	0	3	0	0	0	3
Clinical Genomics Laboratory, Washington University in St. Louis	0	1	0	1	0	0	2	3
Division of Human Genetics, Children's Hospital of Philadelphia	0	1	0	1	0	0	2	3
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	4	0	2	0	0	1	3
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	0	0	0	1	0	0	2	3
Knight Diagnostic Laboratories, Oregon Health and Sciences University	0	1	0	2	1	0	0	3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	0	2	0	3	0	0	0	3
Molecular Genetics, Royal Melbourne Hospital	0	3	0	3	0	0	0	3
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center	0	2	0	2	0	0	1	3
Reproductive Health Research and Development, BGI Genomics	0	2	0	3	0	0	0	3
Undiagnosed Diseases Network, NIH	0	0	0	2	0	0	1	3
Breakthrough Genomics, Breakthrough Genomics	0	2	0	0	0	0	2	2
CSER _CC_NCGL, University of Washington	0	0	0	0	1	0	1	2
Claritas Genomics	0	0	0	0	0	0	2	2
Clinical Genetics Laboratory, Skane University Hospital Lund	0	8	0	2	0	0	0	2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	0	0	0	2	0	0	0	2
Department of Human Genetics, Hannover Medical School	0	1	0	2	0	0	0	2
Dubai Health Genomic Medicine Center, Dubai Health	0	2	0	1	0	0	1	2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	1	0	2	0	0	1	2
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare	0	3	0	2	0	0	0	2
Génétique des Maladies du Développement, Hospices Civils de Lyon	0	0	0	2	0	0	0	2
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA	0	0	0	1	0	0	1	2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin	0	0	0	2	0	0	0	2
Institute of Medical Molecular Genetics, University of Zurich	0	6	0	2	0	0	0	2
Laboratoire Génétique Moléculaire, CHRU TOURS	0	1	0	2	0	0	0	2
Laboratoire de Génétique Moléculaire, CHU Bordeaux	0	0	0	1	0	0	1	2
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	0	1	0	2	0	0	0	2
New York Genome Center	0	2	0	2	0	0	1	2
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation	0	1	0	1	0	0	1	2
University of Washington Department of Laboratory Medicine, University of Washington	0	0	0	2	0	0	0	2
deCODE genetics, Amgen	0	0	0	2	0	0	0	2
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico	0	7	0	1	0	0	0	1
Arcensus	0	0	0	1	0	0	0	1
Biochemistry Laboratory of CDMU, Chengde Medical University	0	0	0	1	0	0	0	1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	0	1	0	1	0	0	0	1
Birmingham Platelet Group; University of Birmingham	0	2	0	1	0	0	0	1
Bristol Genetics Laboratory, North Bristol NHS Trust	0	0	0	1	0	0	0	1
CENTOGENE GmbH and LLC - Guiding Precision Medicine	0	2	0	1	0	0	0	1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen	0	0	0	0	0	0	1	1
Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University	0	0	0	1	0	0	0	1
Center for Statistical Genetics, Columbia University	0	0	0	1	0	0	0	1
Center of Human Genetics, Hôpital Erasme	0	1	0	1	0	0	0	1
Central Laboratory, The First Hospital of Lanzhou University	0	0	0	1	0	0	0	1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	0	1	0	1	0	0	0	1
ClinGen Hearing Loss Variant Curation Expert Panel	0	2	0	1	0	0	0	1
ClinGen von Willebrand Disease Variant Curation Expert Panel, ClinGen	0	1	0	0	0	0	1	1
Clinical Genetics Laboratory, Region Ostergotland	0	0	0	1	0	0	0	1
Clinical Genetics Research Group, Karolinska Institutet	0	0	0	1	0	0	0	1
Clinical Genetics and Genomics, Karolinska University Hospital	0	0	0	1	0	0	0	1
Clinical Genomic Analysis (GENYSIS) Core, University of North Carolina at Chapel Hill	0	0	0	1	0	0	0	1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)	0	0	0	1	0	0	0	1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital	0	3	0	1	0	0	0	1
Cytogenetics, Genetics Associates, Inc.	0	0	0	1	0	0	0	1
DBGen Ocular Genomics	0	0	0	1	0	0	0	1
Daryl Scott Lab, Baylor College of Medicine	0	1	0	1	0	0	0	1
Department of Ophthalmology and Visual Sciences Kyoto University	0	0	0	0	0	0	1	1
Department of Paediatrics at Addenbrookes, Cambridge University Hospitals NHS Foundation Trust (UK)	0	1	0	1	0	0	1	1
Department of Precision Medicine, Korea National Institute of Health	0	0	0	1	0	0	0	1
Department of Reproductive Genetics, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine	0	0	0	1	0	0	0	1
Diagnostic Laboratory, Strasbourg University Hospital	0	0	0	1	0	0	0	1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg	0	0	0	1	0	0	0	1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand	0	1	0	1	0	0	0	1
Donald Williams Parsons Laboratory, Baylor College of Medicine	0	0	0	1	0	0	0	1
Elsea Laboratory, Baylor College of Medicine	0	0	0	1	0	0	0	1
Flegel Lab, National Institutes of Health	0	0	0	1	0	0	0	1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System	0	0	0	1	0	0	1	1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital	0	0	0	1	0	0	0	1
Genetics Laboratory, Department of Biology, Semnan University	0	0	0	1	0	0	0	1
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub	0	0	0	1	0	0	0	1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University	0	0	0	1	0	0	0	1
Genetics, Medical University of Vienna	0	0	0	1	0	0	0	1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	0	0	0	1	0	0	0	1
Genomic Medicine, Universita Cattolica del Sacro Cuore	0	0	0	1	0	0	0	1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	0	0	0	1	0	0	0	1
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino"	0	0	0	1	0	0	0	1
Impact Genetics, Dynacare/LabCorp	0	4	0	1	0	0	0	1
Institute Of Reproduction And Development, Obstetrics and Gynecology Hospital, Fudan University	0	0	0	1	0	0	0	1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital	0	0	0	1	0	0	0	1
Institute for Human Genetics, University Hospital Essen	0	0	0	0	0	0	1	1
Institute of Immunology and Genetics Kaiserslautern	0	1	0	1	0	0	0	1
Johns Hopkins Genomics, Johns Hopkins University	0	3	0	1	0	0	0	1
Kariminejad - Najmabadi Pathology & Genetics Center	0	0	0	0	0	0	1	1
Lab De Baere, Eye and Developmental Genetics Lab, Ghent University	0	8	0	1	0	0	0	1
Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades, CHU Paris - Hôpital Necker-Enfants Malades	0	0	0	1	0	0	0	1
Laboratorio de Biologia Molecular/Medicina Genomica - IFF/Fiocruz, Instituto Fernandes Figueira, Fundacao Oswaldo Cruz	0	0	0	1	0	0	0	1
Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics	0	1	0	1	0	0	0	1
Laboratory of Hematology, Radboud University Medical Center	0	3	0	1	0	0	0	1
Leeds Institute of Medical Research, University of Leeds	0	1	0	1	0	0	0	1
Leiden Open Variation Database	0	1	0	1	0	0	0	1
Lifecell International Pvt. Ltd	0	1	0	1	0	0	0	1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	0	1	0	1	0	0	1	1
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano	0	0	0	0	0	0	1	1
Medical Genetics Lab, Policlinico S. Orsola.Malpighi	0	0	0	0	0	0	1	1
Medical and Scientific Branch, Hong Kong Genome Institute	0	1	0	1	0	0	0	1
Molecular Biology Laboratory, Fundació Puigvert	0	0	0	1	0	0	0	1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware	0	0	1	0	0	0	0	1
Molecular Genetics Laboratory, Institute for Ophthalmic Research	0	3	0	1	0	0	0	1
Molecular Genetics, Centre for Human Genetics	0	1	0	1	0	0	0	1
Neurogenetics Laboratory - MEYER, AOU Meyer	0	0	0	1	0	0	0	1
Next Generation Genetic Polyclinic	0	0	0	1	0	0	0	1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust	0	0	0	1	0	0	0	1
Pediatric Highly Intensive Care Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico	0	0	0	1	0	0	0	1
Rare Disease Genomics Group, St George's University of London	0	2	0	1	0	0	0	1
Rare Disease Group, Clinical Genetics, Karolinska Institutet	0	0	0	1	0	0	1	1
Rui Chen Lab, Baylor College of Medicine	0	0	0	1	0	0	0	1
SIB Swiss Institute of Bioinformatics	0	0	0	1	0	0	0	1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital	0	2	0	1	0	0	0	1
SingHealth Duke-NUS Institute of Precision Medicine	0	2	0	1	0	0	0	1
Solve-RD Consortium	0	0	0	0	0	0	1	1
Stanford Center for Inherited Cardiovascular Disease, Stanford University	0	2	0	0	0	0	1	1
Suma Genomics	0	2	0	1	0	0	0	1
University of Washington Center for Mendelian Genomics, University of Washington	0	2	0	1	0	0	0	1
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics	0	0	0	0	0	1	0	1
Versiti Diagnostic Laboratories, Versiti, Inc	0	1	0	1	0	0	0	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_003126.4(SPTA1):c.6531-12C>T	rs28525570	0.25447
NM_003661.4(APOL1):c.1024A>G (p.Ser342Gly)	rs73885319	0.06773
NM_003661.4(APOL1):c.1152T>G (p.Ile384Met)	rs60910145	0.06255
NM_000350.3(ABCA4):c.3899G>A (p.Arg1300Gln)	rs61750129	0.02065
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp)	rs41322046	0.01000
NM_000552.5(VWF):c.4196G>A (p.Arg1399His)	rs1800382	0.00907
NM_000552.5(VWF):c.3686T>G (p.Val1229Gly)	rs61749367	0.00656
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His)	rs62642564	0.00654
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr)	rs111033282	0.00546
NM_000128.4(F11):c.731A>G (p.Gln244Arg)	rs5969	0.00538
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)	rs76157638	0.00445
NM_006269.2(RP1):c.616-6T>C	rs186571865	0.00445
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln)	rs41276738	0.00378
NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile)	rs111033269	0.00369
NM_000303.3(PMM2):c.422G>A (p.Arg141His)	rs28936415	0.00368
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn)	rs112822256	0.00350
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)	rs112029032	0.00346
NM_021870.3(FGG):c.571G>A (p.Gly191Arg)	rs6063	0.00339
NM_016038.4(SBDS):c.258+2T>C	rs113993993	0.00337
NM_000504.4(F10):c.424G>A (p.Glu142Lys)	rs61753266	0.00334
NM_001142800.2(EYS):c.5510G>C (p.Trp1837Ser)	rs199689193	0.00333
NM_000301.5(PLG):c.112A>G (p.Lys38Glu)	rs73015965	0.00279
NM_005141.5(FGB):c.794C>T (p.Pro265Leu)	rs6054	0.00278
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)	rs1800553	0.00269
NM_020361.5(CPA6):c.799G>A (p.Gly267Arg)	rs61738009	0.00239
NM_000129.4(F13A1):c.1777G>A (p.Gly593Ser)	rs138754417	0.00230
NM_021870.3(FGG):c.323C>G (p.Ala108Gly)	rs148685782	0.00218
NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg)	rs61749455	0.00194
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)	rs113624356	0.00188
NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu)	rs2227624	0.00167
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)	rs61751374	0.00164
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)	rs80338902	0.00137
NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu)	rs148002300	0.00134
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr)	rs1762111	0.00132
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu)	rs35993949	0.00121
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile)	rs201162411	0.00116
NM_000552.5(VWF):c.1922C>T (p.Ala641Val)	rs61754019	0.00098
NM_000552.5(VWF):c.5278G>A (p.Val1760Ile)	rs61750604	0.00094
NM_030773.4(TUBB1):c.326G>A (p.Gly109Glu)	rs41303899	0.00092
NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys)	rs149553844	0.00089
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu)	rs121909551	0.00084
NM_172364.5(CACNA2D4):c.1882C>T (p.Arg628Ter)	rs200098356	0.00078
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys)	rs150726175	0.00077
NM_000174.5(GP9):c.182A>G (p.Asn61Ser)	rs5030764	0.00076
NM_000552.5(VWF):c.1625C>G (p.Ala542Gly)	rs141649383	0.00074
NM_001114753.3(ENG):c.219+22C>T	rs370257876	0.00073
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val)	rs149755320	0.00068
NM_000128.4(F11):c.901T>C (p.Phe301Leu)	rs121965064	0.00066
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)	rs148660051	0.00056
NM_000128.4(F11):c.809A>T (p.Lys270Ile)	rs121965070	0.00055
NM_000552.5(VWF):c.5851A>G (p.Thr1951Ala)	rs144072210	0.00054
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln)	rs74315342	0.00054
NM_021870.3(FGG):c.140C>T (p.Thr47Ile)	rs138511699	0.00050
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His)	rs140482171	0.00048
NM_006514.4(SCN10A):c.4984G>A (p.Gly1662Ser)	rs151090729	0.00047
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)	rs199605265	0.00046
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln)	rs77563738	0.00041
NM_000313.4(PROS1):c.284G>A (p.Gly95Glu)	rs144526169	0.00040
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter)	rs121909398	0.00039
NM_001395891.1(CLASP1):c.196-567G>A	rs559979281	0.00038
NM_005141.5(FGB):c.534G>C (p.Lys178Asn)	rs201909029	0.00038
NM_014249.4(NR2E3):c.119-2A>C	rs2723341	0.00038
NM_019616.4(F7):c.995C>T (p.Ala332Val)	rs36209567	0.00038
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)	rs77375493	0.00037
NM_000350.3(ABCA4):c.926C>G (p.Pro309Arg)	rs61748545	0.00035
NM_005373.3(MPL):c.305G>C (p.Arg102Pro)	rs28928907	0.00035
NM_000350.3(ABCA4):c.5714+5G>A	rs61751407	0.00032
NM_016204.4(GDF2):c.776A>G (p.Asn259Ser)	rs140271276	0.00032
NM_000020.3(ACVRL1):c.88C>T (p.Pro30Ser)	rs149664056	0.00031
NM_000350.3(ABCA4):c.5461-10T>C	rs1800728	0.00029
NM_001379500.1(COL18A1):c.3523_3524del (p.Leu1175fs)	rs398122391	0.00029
NM_000760.4(CSF3R):c.1640G>A (p.Trp547Ter)	rs138156467	0.00026
NM_001114753.3(ENG):c.7C>T (p.Arg3Cys)	rs139334561	0.00024
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu)	rs61750130	0.00023
NM_001114753.3(ENG):c.388C>T (p.Pro130Ser)	rs199840979	0.00021
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His)	rs121909552	0.00018
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)	rs61751392	0.00017
NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met)	rs61750152	0.00016
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys)	rs111033258	0.00016
NM_014140.4(SMARCAL1):c.2114C>T (p.Thr705Ile)	rs200644381	0.00015
NM_001060.6(TBXA2R):c.713A>G (p.Asp238Gly)	rs201310328	0.00014
NM_000329.3(RPE65):c.11+5G>A	rs61751276	0.00013
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser)	rs375315619	0.00013
NM_153033.5(KCTD7):c.362G>T (p.Arg121Leu)	rs199624315	0.00013
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr)	rs62645748	0.00013
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)	rs201527662	0.00013
NM_000350.3(ABCA4):c.5196+1137G>A	rs778234759	0.00012
NM_000128.4(F11):c.1613C>T (p.Pro538Leu)	rs139695003	0.00010
NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp)	rs139185976	0.00010
NM_001297.5(CNGB1):c.413-1G>A	rs189234741	0.00010
NM_000093.5(COL5A1):c.1303C>G (p.Pro435Ala)	rs377488010	0.00009
NM_000312.4(PROC):c.226G>A (p.Val76Met)	rs121918149	0.00008
NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp)	rs139842473	0.00008
NM_004928.3(CFAP410):c.33_34insAGCTGCACAGCGTGCA (p.Ala12fs)	rs748531024	0.00008
NM_019616.4(F7):c.413A>G (p.Gln138Arg)	rs200016360	0.00008
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val)	rs111033524	0.00008
NM_000350.3(ABCA4):c.2813T>C (p.Phe938Ser)	rs149071415	0.00007
NM_000552.5(VWF):c.658-3C>A	rs377196768	0.00007
NM_002473.6(MYH9):c.5074G>A (p.Ala1692Thr)	rs767426084	0.00007
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp)	rs104894178	0.00007
NM_019616.4(F7):c.781C>T (p.Arg261Trp)	rs779589651	0.00007
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg)	rs111033264	0.00007
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe)	rs121912600	0.00007
NM_000128.4(F11):c.1288G>A (p.Ala430Thr)	rs753909969	0.00006
NM_000128.4(F11):c.943G>A (p.Glu315Lys)	rs281875257	0.00006
NM_000350.3(ABCA4):c.768G>T (p.Val256=)	rs62645944	0.00006
NM_014639.4(SKIC3):c.3625C>T (p.Arg1209Ter)	rs140800288	0.00006
NM_019616.4(F7):c.845C>T (p.Ala282Val)	rs121964931	0.00006
NM_206933.4(USH2A):c.7595-2144A>G	rs786200928	0.00006
NM_000128.4(F11):c.438C>A (p.Cys146Ter)	rs121965066	0.00005
NM_000128.4(F11):c.802C>T (p.Arg268Cys)	rs763496524	0.00005
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln)	rs111033178	0.00005
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr)	rs61751402	0.00005
NM_000350.3(ABCA4):c.4519G>A (p.Gly1507Arg)	rs568792949	0.00005
NM_000350.3(ABCA4):c.6449G>A (p.Cys2150Tyr)	rs61751384	0.00005
NM_000488.4(SERPINC1):c.235C>T (p.Arg79Cys)	rs121909547	0.00005
NM_001171.6(ABCC6):c.3389C>T (p.Thr1130Met)	rs63750459	0.00005
NM_019616.4(F7):c.364+1G>A	rs1056071555	0.00005
NM_000020.3(ACVRL1):c.948G>C (p.Glu316Asp)	rs145300204	0.00004
NM_000128.4(F11):c.400C>T (p.Gln134Ter)	rs756908183	0.00004
NM_000195.5(HPS1):c.1096C>A (p.Pro366Thr)	rs138771756	0.00004
NM_000312.4(PROC):c.814C>T (p.Arg272Cys)	rs121918154	0.00004
NM_000407.5(GP1BB):c.127G>T (p.Gly43Trp)	rs551140561	0.00004
NM_000419.5(ITGA2B):c.3060+2T>C	rs74664206	0.00004
NM_000552.5(VWF):c.4115T>G (p.Ile1372Ser)	rs61750070	0.00004
NM_001114753.3(ENG):c.1019C>T (p.Pro340Leu)	rs772135786	0.00004
NM_006363.6(SEC23B):c.970C>T (p.Arg324Ter)	rs121918225	0.00004
NM_021870.3(FGG):c.1099G>A (p.Ala367Thr)	rs78257946	0.00004
NM_000128.4(F11):c.1489C>T (p.Arg497Ter)	rs375422404	0.00003
NM_000128.4(F11):c.1778C>T (p.Thr593Met)	rs145906668	0.00003
NM_000283.4(PDE6B):c.1107+3A>G	rs370898371	0.00003
NM_000326.5(RLBP1):c.677T>A (p.Met226Lys)	rs137853291	0.00003
NM_000350.3(ABCA4):c.1609C>T (p.Arg537Cys)	rs61748556	0.00003
NM_000350.3(ABCA4):c.5381C>A (p.Ala1794Asp)	rs61751406	0.00003
NM_000448.3(RAG1):c.2210G>A (p.Arg737His)	rs104894286	0.00003
NM_001114753.3(ENG):c.1134G>A (p.Ala378=)	rs1329127701	0.00003
NM_001298.3(CNGA3):c.1688G>A (p.Arg563His)	rs552069173	0.00003
NM_002775.5(HTRA1):c.904C>T (p.Arg302Ter)	rs113993970	0.00003
NM_005141.5(FGB):c.139C>T (p.Arg47Ter)	rs121909625	0.00003
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln)	rs376894444	0.00003
NM_024747.6(HPS6):c.1A>G (p.Met1Val)	rs763073715	0.00003
NM_030773.4(TUBB1):c.952C>T (p.Arg318Trp)	rs121918555	0.00003
NM_206933.4(USH2A):c.9882C>G (p.Cys3294Trp)	rs749228276	0.00003
NM_000128.4(F11):c.976C>T (p.Arg326Cys)	rs28934608	0.00002
NM_000130.5(F5):c.1498T>G (p.Cys500Gly)	rs1571581722	0.00002
NM_000130.5(F5):c.911G>A (p.Gly304Glu)	rs865947251	0.00002
NM_000132.4(F8):c.2149C>T (p.Arg717Trp)	rs137852435	0.00002
NM_000132.4(F8):c.5123G>A (p.Arg1708His)	rs111033614	0.00002
NM_000195.5(HPS1):c.1857+2T>C	rs374689398	0.00002
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu)	rs397516068	0.00002
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln)	rs193922390	0.00002
NM_000283.4(PDE6B):c.1580T>C (p.Leu527Pro)	rs760766981	0.00002
NM_000313.4(PROS1):c.233C>T (p.Thr78Met)	rs6122	0.00002
NM_000329.3(RPE65):c.74C>T (p.Pro25Leu)	rs199683808	0.00002
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp)	rs61749409	0.00002
NM_000350.3(ABCA4):c.3364G>A (p.Glu1122Lys)	rs61751399	0.00002
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln)	rs61751403	0.00002
NM_006269.2(RP1):c.1498_1499del (p.Met500fs)	rs765129639	0.00002
NM_006269.2(RP1):c.515T>G (p.Leu172Arg)	rs180729424	0.00002
NM_014140.4(SMARCAL1):c.2459G>A (p.Arg820His)	rs200666300	0.00002
NM_014714.4(IFT140):c.998G>A (p.Cys333Tyr)	rs773372123	0.00002
NM_032119.4(ADGRV1):c.12798T>A (p.Tyr4266Ter)	rs777309662	0.00002
NM_153676.4(USH1C):c.216G>A (p.Val72=)	rs151045328	0.00002
NM_201253.3(CRB1):c.1712A>C (p.Glu571Ala)	rs773233587	0.00002
NM_201253.3(CRB1):c.2129A>T (p.Glu710Val)	rs145282040	0.00002
NM_206933.4(USH2A):c.2081G>A (p.Cys694Tyr)	rs137954284	0.00002
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His)	rs118204016	0.00001
NM_000061.3(BTK):c.764G>A (p.Arg255Gln)	rs1603008329	0.00001
NM_000128.4(F11):c.1432G>A (p.Gly478Arg)	rs542967227	0.00001
NM_000128.4(F11):c.302A>G (p.Lys101Arg)	rs281875272	0.00001
NM_000128.4(F11):c.365G>A (p.Gly122Asp)	rs369650561	0.00001
NM_000128.4(F11):c.599G>A (p.Cys200Tyr)	rs757817254	0.00001
NM_000128.4(F11):c.728C>T (p.Ser243Phe)	rs1262002209	0.00001
NM_000128.4(F11):c.755+2T>C	rs1220869989	0.00001
NM_000130.5(F5):c.2862del (p.Ser955fs)	rs765982916	0.00001
NM_000130.5(F5):c.5408A>G (p.His1803Arg)	rs754104059	0.00001
NM_000130.5(F5):c.6304C>T (p.Arg2102Cys)	rs118203910	0.00001
NM_000131.4(F7):c.-61T>G	rs1367115848	0.00001
NM_000132.4(F8):c.599A>G (p.Glu200Gly)	rs782158761	0.00001
NM_000133.4(F9):c.1024A>G (p.Thr342Ala)	rs1603267362	0.00001
NM_000195.5(HPS1):c.1744-2A>C	rs281865088	0.00001
NM_000212.3(ITGB3):c.1366A>C (p.Thr456Pro)	rs1598694640	0.00001
NM_000212.3(ITGB3):c.355C>T (p.Arg119Trp)	rs781062792	0.00001
NM_000212.3(ITGB3):c.565C>T (p.Pro189Ser)	rs958609406	0.00001
NM_000283.4(PDE6B):c.739T>A (p.Phe247Ile)	rs780521818	0.00001
NM_000312.4(PROC):c.659G>A (p.Arg220Gln)	rs121918153	0.00001
NM_000350.3(ABCA4):c.1335C>G (p.Ser445Arg)	rs61748552	0.00001
NM_000350.3(ABCA4):c.1938-1G>A	rs61751263	0.00001
NM_000350.3(ABCA4):c.3064G>A (p.Glu1022Lys)	rs61749459	0.00001
NM_000350.3(ABCA4):c.4253+5G>A	rs61750138	0.00001
NM_000350.3(ABCA4):c.5018+2T>C	rs61750562	0.00001
NM_000350.3(ABCA4):c.5018+5G>A	rs1553188588	0.00001
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter)	rs61751383	0.00001
NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter)	rs61750654	0.00001
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter)	rs61753046	0.00001
NM_000372.5(TYR):c.1037G>T (p.Gly346Val)	rs773970123	0.00001
NM_000419.5(ITGA2B):c.1186G>A (p.Asp396Asn)	rs1214448436	0.00001
NM_000419.5(ITGA2B):c.1210+105A>G	rs992856733	0.00001
NM_000419.5(ITGA2B):c.1772A>C (p.Asp591Ala)	rs778608263	0.00001
NM_000419.5(ITGA2B):c.409-1G>A	rs1393747638	0.00001
NM_000419.5(ITGA2B):c.559del (p.Val187fs)	rs1469711487	0.00001
NM_000440.3(PDE6A):c.1957C>T (p.Arg653Ter)	rs753942596	0.00001
NM_000488.4(SERPINC1):c.391C>T (p.Leu131Phe)	rs121909567	0.00001
NM_000504.4(F10):c.161A>G (p.Glu54Gly)	rs121964944	0.00001
NM_000508.3(FGA):c.112A>G (p.Arg38Gly)	rs121909608	0.00001
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu)	rs29001566	0.00001
NM_000552.5(VWF):c.2372C>T (p.Thr791Met)	rs61748477	0.00001
NM_000552.5(VWF):c.3108+5G>A	rs61748495	0.00001
NM_000552.5(VWF):c.3390C>T (p.Cys1130=)	rs1591865617	0.00001
NM_000552.5(VWF):c.7408C>T (p.Gln2470Ter)	rs61751288	0.00001
NM_001114753.3(ENG):c.1306C>T (p.Gln436Ter)	rs1554809450	0.00001
NM_001142800.2(EYS):c.4045C>T (p.Arg1349Ter)	rs930421180	0.00001
NM_001297.5(CNGB1):c.2285G>A (p.Arg762His)	rs760373259	0.00001
NM_002163.4(IRF8):c.1279dup (p.Ter427LeuextTer?)	rs1567479117	0.00001
NM_002473.6(MYH9):c.2105G>A (p.Arg702His)	rs80338827	0.00001
NM_006017.3(PROM1):c.1579-1G>C	rs372513650	0.00001
NM_006060.6(IKZF1):c.550C>T (p.Arg184Trp)	rs1584926038	0.00001
NM_014249.4(NR2E3):c.311G>A (p.Arg104Gln)	rs766096417	0.00001
NM_014363.6(SACS):c.8104C>T (p.Leu2702Phe)	rs1593126754	0.00001
NM_015175.3(NBEAL2):c.4485-1G>T	rs763842878	0.00001
NM_015937.6(PIGT):c.1079G>T (p.Gly360Val)	rs1277383877	0.00001
NM_019098.5(CNGB3):c.1810C>T (p.Arg604Ter)	rs200805087	0.00001
NM_019616.4(F7):c.1043G>T (p.Cys348Phe)	rs121964927	0.00001
NM_019616.4(F7):c.443G>A (p.Arg148His)	rs375134790	0.00001
NM_019616.4(F7):c.523A>G (p.Lys175Glu)	rs1250204261	0.00001
NM_019616.4(F7):c.615+1G>T	rs769452933	0.00001
NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter)	rs780667159	0.00001
NM_021870.2(FGG):c.902G>A (p.Arg301His)	rs121913088	0.00001
NM_021870.3(FGG):c.677G>T (p.Gly226Val)	rs1310452604	0.00001
NM_024747.6(HPS6):c.779G>A (p.Gly260Glu)	rs1478574193	0.00001
NM_033550.4(TP53RK):c.727C>T (p.Arg243Cys)	rs553547069	0.00001
NM_152564.5(VPS13B):c.2591C>A (p.Ser864Ter)	rs140936527	0.00001
NM_152564.5(VPS13B):c.6295_6296del (p.Met2099fs)	rs748404277	0.00001
NM_201253.3(CRB1):c.1913C>T (p.Ser638Leu)	rs267598278	0.00001
NM_201253.3(CRB1):c.2842+5G>A	rs773914330	0.00001
NM_206933.4(USH2A):c.14426C>T (p.Thr4809Ile)	rs770553471	0.00001
NC_000022.11:g.19721912_19724790del
NM_000020.3(ACVRL1):c.1037_1039del (p.Ile346_Ala347delinsThr)	rs1940813707
NM_000020.3(ACVRL1):c.1120C>T (p.Arg374Trp)	rs28936401
NM_000020.3(ACVRL1):c.1231C>T (p.Arg411Trp)	rs121909287
NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln)	rs121909284
NM_000020.3(ACVRL1):c.1246+5G>A	rs1940838881
NM_000020.3(ACVRL1):c.1451G>A (p.Arg484Gln)	rs863223408
NM_000020.3(ACVRL1):c.200G>A (p.Arg67Gln)	rs863223414
NM_000020.3(ACVRL1):c.632G>A (p.Gly211Asp)	rs28936687
NM_000020.3(ACVRL1):c.830C>A (p.Thr277Lys)	rs750085854
NM_000020.3(ACVRL1):c.830C>G (p.Thr277Arg)	rs750085854
NM_000020.3(ACVRL1):c.848G>T (p.Gly283Val)	rs1940804461
NM_000020.3(ACVRL1):c.905T>C (p.Leu302Pro)	rs1565594217
NM_000043.6(FAS):c.748C>T (p.Arg250Ter)	rs778993919
NM_000128.4(F11):c.1782C>A (p.Ser594Arg)	rs28934609
NM_000128.4(F11):c.449C>T (p.Thr150Met)	rs1340928778
NM_000128.4(F11):c.908del (p.Gly303fs)	rs786204722
NM_000129.4(F13A1):c.233G>T (p.Arg78Leu)	rs768024997
NM_000130.5(F5):c.1297-2A>G	rs762646464
NM_000130.5(F5):c.2539del (p.Ile847fs)	rs1571575520
NM_000131.4(F7):c.-55C>T	rs1418012389
NM_000132.4(F8):c.6685C>T (p.Leu2229Phe)	rs1603431508
NM_000133.4(F9):c.1067G>T (p.Trp356Leu)	rs1479241411
NM_000133.4(F9):c.835G>A (p.Ala279Thr)	rs137852247
NM_000173.7(GP1BA):c.171C>A (p.Asn57Lys)	rs1597638398
NM_000173.7(GP1BA):c.763A>G (p.Met255Val)	rs121908064
NM_000174.5(GP9):c.70T>C (p.Cys24Arg)	rs28933378
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His)	rs61750173
NM_000195.5(HPS1):c.1189del (p.Gln397fs)	rs281865084
NM_000195.5(HPS1):c.1632C>A (p.Phe544Leu)	rs748106098
NM_000195.5(HPS1):c.1996G>T (p.Glu666Ter)	rs121908385
NM_000195.5(HPS1):c.972dup (p.Met325fs)	rs281865082
NM_000212.3(ITGB3):c.433G>A (p.Asp145Asn)	rs121918445
NM_000212.3(ITGB3):c.55dup (p.Ala19fs)	rs1302506624
NM_000256.3(MYBPC3):c.3771C>A (p.Asn1257Lys)	rs730880603
NM_000260.4(MYO7A):c.721C>T (p.Arg241Cys)	rs782166819
NM_000283.4(PDE6B):c.1923_1969delinsTCTGGG (p.Asn643fs)	rs869312177
NM_000313.4(PROS1):c.785del (p.Gly262fs)	rs1576182838
NM_000322.5(PRPH2):c.625G>T (p.Val209Phe)	rs753657349
NM_000322.5(PRPH2):c.664T>C (p.Cys222Arg)	rs1554269053
NM_000350.3(ABCA4):c.1757A>G (p.Asp586Gly)	rs1553192682
NM_000350.3(ABCA4):c.2915C>A (p.Thr972Asn)	rs61749451
NM_000350.3(ABCA4):c.3210_3211dup (p.Ser1071fs)	rs387906385
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs)	rs281865377
NM_000350.3(ABCA4):c.6229C>T (p.Arg2077Trp)	rs61750645
NM_000407.5(GP1BB):c.137G>A (p.Trp46Ter)	rs121909752
NM_000407.5(GP1BB):c.448del (p.Ala150fs)	rs1360071443
NM_000419.5(ITGA2B):c.1005_1013del (p.His335_Leu338delinsGln)	rs1598381654
NM_000419.5(ITGA2B):c.1440-1G>A	rs1598379928
NM_000419.5(ITGA2B):c.2344C>T (p.Arg782Ter)	rs1598377051
NM_000419.5(ITGA2B):c.2507G>C (p.Gly836Ala)	rs759664025
NM_000419.5(ITGA2B):c.2992del (p.Trp998fs)	rs1598375578
NM_000419.5(ITGA2B):c.574+5G>A	rs1598383011
NM_000419.5(ITGA2B):c.998+1G>C	rs1598381778
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys)	rs28933696
NM_000488.4(SERPINC1):c.1154-14G>A	rs542881762
NM_000488.4(SERPINC1):c.1376C>A (p.Ala459Asp)	rs1572084448
NM_000488.4(SERPINC1):c.1393T>C (p.Ter465Gln)	rs1572084425
NM_000488.4(SERPINC1):c.592T>C (p.Tyr198His)	rs1572090114
NM_000488.4(SERPINC1):c.771del (p.Leu256_Trp257insTer)	rs1572088853
NM_000488.4(SERPINC1):c.830del (p.Glu277fs)	rs1572088775
NM_000488.4(SERPINC1):c.953C>T (p.Pro318Leu)	rs1460568494
NM_000504.4(F10):c.160G>A (p.Glu54Lys)	rs121964939
NM_000539.3(RHO):c.541G>A (p.Glu181Lys)	rs775557680
NM_000539.3(RHO):c.568G>T (p.Asp190Tyr)	rs104893779
NM_000552.5(VWF):c.2516del (p.Gly839fs)	rs61748481
NM_000552.5(VWF):c.3569G>A (p.Cys1190Tyr)	rs1591865026
NM_000552.5(VWF):c.3692A>C (p.Asn1231Thr)	rs61749368
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu)	rs61749370
NM_000552.5(VWF):c.3916C>T (p.Arg1306Trp)	rs61749384
NM_000552.5(VWF):c.3943C>T (p.Arg1315Cys)	rs61749395
NM_000552.5(VWF):c.3946G>A (p.Val1316Met)	rs61749397
NM_000552.5(VWF):c.421G>A (p.Asp141Asn)	rs61753992
NM_000552.5(VWF):c.449T>C (p.Leu150Pro)	rs61753994
NM_000552.5(VWF):c.4517C>T (p.Ser1506Leu)	rs61750100
NM_000552.5(VWF):c.7988G>C (p.Arg2663Pro)	rs149834874
NM_001013703.4(EIF2AK4):c.1392del (p.Arg465fs)	rs587777102
NM_001023570.4(IQCB1):c.214C>T (p.Arg72Ter)	rs201405662
NM_001031710.3(KLHL7):c.422T>C (p.Val141Ala)	rs1554286384
NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs)	rs1555961852
NM_001098671.2(RASGRP2):c.1479dup (p.Arg494fs)	rs774996406
NM_001098671.2(RASGRP2):c.1490del (p.Phe497fs)	rs752492512
NM_001098671.2(RASGRP2):c.542T>C (p.Phe181Ser)	rs1060499609
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val)	rs28934908
NM_001114753.3(ENG):c.-127C>T	rs1060501408
NM_001114753.3(ENG):c.1080_1083del (p.Thr361fs)	rs863223540
NM_001114753.3(ENG):c.1268A>G (p.Asn423Ser)	rs1830431553
NM_001114753.3(ENG):c.1472_1475del (p.Asp491fs)	rs1830384910
NM_001114753.3(ENG):c.1513G>T (p.Glu505Ter)	rs1830383454
NM_001114753.3(ENG):c.277C>T (p.Arg93Ter)	rs886039506
NM_001114753.3(ENG):c.360+4A>G	rs1564457752
NM_001114753.3(ENG):c.360+5G>A	rs1060501417
NM_001114753.3(ENG):c.523G>T (p.Ala175Ser)	rs1588583488
NM_001114753.3(ENG):c.646A>G (p.Lys216Glu)	rs1830597676
NM_001114753.3(ENG):c.899T>C (p.Leu300Pro)	rs1335718486
NM_001114753.3(ENG):c.923C>A (p.Ala308Asp)	rs1482440395
NM_001114753.3(ENG):c.991G>A (p.Gly331Ser)	rs1060501410
NM_001122769.3(LCA5):c.633_639del (p.Glu211fs)	rs878853382
NM_001127222.2(CACNA1A):c.2039_2040del (p.Gln680fs)	rs1064794262
NM_001130004.2(ACTN1):c.1019C>T (p.Thr340Met)	rs1594771155
NM_001130004.2(ACTN1):c.136C>T (p.Arg46Trp)	rs747559032
NM_001130004.2(ACTN1):c.1959C>G (p.Ile653Met)	rs372031019
NM_001130004.2(ACTN1):c.2212C>T (p.Arg738Trp)	rs387907349
NM_001130004.2(ACTN1):c.313G>A (p.Val105Ile)	rs387907345
NM_001142800.2(EYS):c.2000G>A (p.Arg667His)	rs549456693
NM_001204.7(BMPR2):c.1019T>C (p.Leu340Pro)	rs1085307289
NM_001204.7(BMPR2):c.1133G>T (p.Gly378Val)	rs1574494547
NM_001204.7(BMPR2):c.1178A>G (p.Asn393Ser)	rs1574494582
NM_001204.7(BMPR2):c.1202T>C (p.Leu401Ser)	rs1085307312
NM_001204.7(BMPR2):c.1228G>C (p.Gly410Arg)	rs1085307316
NM_001204.7(BMPR2):c.247+1G>A	rs1085307188
NM_001204.7(BMPR2):c.418+5G>A	rs1085307229
NM_001282225.2(ADA2):c.1110C>A (p.Asn370Lys)	rs1489114116
NM_001298.3(CNGA3):c.107_110del (p.His36fs)	rs749036398
NM_001365536.1(SCN9A):c.2576T>C (p.Ile859Thr)	rs80356474
NM_001367916.1(MAGT1):c.992+1G>A	rs1557213306
NM_001371279.1(REEP1):c.33-2A>G	rs1574077569
NM_001384910.1(GUCA1A):c.296A>G (p.Tyr99Cys)	rs104893967
NM_001395891.1(CLASP1):c.196-570C>T	rs750325275
NM_001563.4(IMPG1):c.1157C>A (p.Ala386Asp)	rs144437882
NM_002017.5(FLI1):c.992_995del (p.Asn331fs)	rs1064797085
NM_002473.6(MYH9):c.2507C>T (p.Pro836Leu)	rs1603483077
NM_002473.6(MYH9):c.283G>A (p.Ala95Thr)	rs1603484047
NM_002473.6(MYH9):c.287C>T (p.Ser96Leu)	rs121913657
NM_002473.6(MYH9):c.4340A>G (p.Asp1447Gly)	rs797044804
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val)	rs397507547
NM_003661.4(APOL1):c.1164_1169del (p.Asn388_Tyr389del)	rs71785313
NM_003998.4(NFKB1):c.904dup (p.Ser302fs)	rs773694113
NM_004928.3(CFAP410):c.269G>C (p.Arg90Pro)	rs567435284
NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys)	rs1555889130
NM_005141.4(FGB):c.130C>T (p.Arg44Cys)	rs121909616
NM_005141.4(FGB):c.586C>T (p.Arg196Cys)	rs121909623
NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys)	rs80338963
NM_005359.6(SMAD4):c.1309G>A (p.Val437Ile)	rs1568211172
NM_005570.4(LMAN1):c.904A>T (p.Lys302Ter)	rs183873209
NM_005859.5(PURA):c.98del (p.Gly33fs)	rs1581036073
NM_006009.4(TUBA1A):c.5G>A (p.Arg2His)	rs587784491
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys)	rs137853006
NM_006017.3(PROM1):c.1177_1178del (p.Ile393fs)	rs746174328
NM_006060.6(IKZF1):c.484C>T (p.Arg162Trp)	rs1584925614
NM_006060.6(IKZF1):c.500A>G (p.His167Arg)	rs869312884
NM_006445.4(PRPF8):c.6928A>G (p.Arg2310Gly)	rs752997229
NM_006915.3(RP2):c.11TCT[1] (p.Phe5del)	rs1556313414
NM_006915.3(RP2):c.352C>T (p.Arg118Cys)	rs1556318633
NM_007315.4(STAT1):c.850G>A (p.Glu284Lys)	rs1574657750
NM_007325.5(GRIA3):c.2327C>T (p.Thr776Met)	rs780680047
NM_014249.4(NR2E3):c.767C>A (p.Ala256Glu)	rs377257254
NM_015175.3(NBEAL2):c.5935C>T (p.Arg1979Trp)	rs771025246
NM_016204.4(GDF2):c.997C>T (p.Arg333Trp)	rs35129734
NM_019098.5(CNGB3):c.1285del (p.Ser429fs)	rs776896038
NM_019616.4(F7):c.1325del (p.Pro442fs)	rs750457207
NM_019616.4(F7):c.149C>G (p.Ser50Cys)	rs546856641
NM_020988.3(GNAO1):c.118G>C (p.Gly40Arg)	rs886041715
NM_021870.2(FGG):c.901C>T (p.Arg301Cys)	rs121913087
NM_021871.4(FGA):c.117del (p.Val40fs)	rs762964798
NM_021871.4(FGA):c.922C>T (p.Arg308Ter)	rs776817952
NM_024426.6(WT1):c.1447+4C>T	rs587776577
NM_030632.3(ASXL3):c.3464C>A (p.Ser1155Ter)	rs377619533
NM_030773.4(TUBB1):c.229C>T (p.Arg77Ter)	rs767380935
NM_030773.4(TUBB1):c.704del (p.Gly235fs)	rs770554119
NM_030773.4(TUBB1):c.752G>A (p.Arg251His)	rs770226644
NM_032383.5(HPS3):c.2463dup (p.Arg822fs)	rs1576695913
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs)	rs794727197
NM_153676.4(USH1C):c.748_759+5del	rs1355262412
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp)	rs773171451
NM_172107.4(KCNQ2):c.2126dup (p.Val710fs)	rs1555850842
NM_172362.3(KCNH1):c.1070G>A (p.Arg357Gln)	rs886041300
NM_198253.3(TERT):c.1381G>T (p.Val461Leu)	rs1579596470
NM_201253.3(CRB1):c.1006T>C (p.Cys336Arg)	rs878853370
NM_201253.3(CRB1):c.1183G>T (p.Glu395Ter)	rs369775002
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del)	rs398124615
NM_206933.4(USH2A):c.9860_9873del (p.His3287fs)	rs1388040238
Single allele