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)
		ClinVar version: 2024-03-31

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
1416	225	0	229	17	10	109	339

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	likely risk allele	pathogenic, low penetrance	protective	risk factor	other
	pathogenic	0	37	16	0	2	2	0	0	3	2
	likely pathogenic	187	0	73	10	5	0	1	1	1	3
	uncertain significance	14	8	0	11	6	0	0	0	0	1
	likely benign	1	0	4	0	7	0	0	0	0	0
	benign	0	0	0	1	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
Invitae	0	60	0	50	10	1	27	86
GeneDx	0	32	0	36	3	1	15	54
OMIM	0	23	0	35	0	7	8	50
Blueprint Genetics	0	20	0	29	0	0	1	30
Illumina Laboratory Services, Illumina	0	18	0	13	3	0	15	30
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	27	0	14	1	0	12	27
CeGaT Center for Human Genetics Tuebingen	0	21	0	17	2	0	8	27
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	18	0	15	3	0	4	22
Fulgent Genetics, Fulgent Genetics	0	18	0	20	0	0	2	22
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	0	39	0	14	0	0	9	22
PreventionGenetics, part of Exact Sciences	0	20	0	9	4	0	8	21
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	7	0	10	0	3	4	17
Revvity Omics, Revvity	0	10	0	12	0	0	5	17
Mendelics	0	8	0	12	0	2	3	17
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	0	22	0	11	0	0	5	16
Eurofins Ntd Llc (ga)	0	6	0	7	0	1	7	13
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	22	0	8	0	0	5	13
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	6	0	9	0	0	3	12
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen	0	8	0	7	0	0	5	12
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel	0	6	0	11	0	0	1	12
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	0	9	0	8	0	0	3	11
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	0	9	0	10	0	0	0	10
Quest Diagnostics Nichols Institute San Juan Capistrano	0	4	0	3	2	0	5	9
Genetics and Molecular Pathology, SA Pathology	0	12	0	8	0	0	1	9
Sharon lab, Hadassah-Hebrew University Medical Center	0	11	0	9	0	0	0	9
Mayo Clinic Laboratories, Mayo Clinic	0	12	0	5	0	0	4	8
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	0	6	0	8	0	0	0	8
Institute of Human Genetics, University of Leipzig Medical Center	0	3	0	8	0	0	0	8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	10	0	7	0	0	0	7
Genetic Services Laboratory, University of Chicago	0	4	0	4	2	0	0	6
Natera, Inc.	0	8	0	5	0	0	1	6
Baylor Genetics	0	5	0	4	0	0	1	5
Athena Diagnostics Inc	0	4	0	3	0	0	3	5
Counsyl	0	6	0	2	0	0	3	5
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals	0	1	0	3	0	0	2	5
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	0	2	0	3	0	0	2	5
Clingen Thrombosis Variant Curation Expert Panel, ClinGen	0	0	0	4	0	0	1	5
Dept Of Ophthalmology, Nagoya University	0	5	0	5	0	0	0	5
Ambry Genetics	0	0	0	2	0	0	2	4
MGZ Medical Genetics Center	0	2	0	4	0	0	0	4
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München	0	1	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
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	1	0	4	0	0	0	4
Ocular Genomics Institute, Massachusetts Eye and Ear	0	2	0	4	0	0	0	4
3billion	0	7	0	4	0	0	0	4
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine	0	3	0	3	0	0	1	4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	1	0	3	0	0	1	4
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	4	0	2	0	0	1	3
Clinical Genetics, Academic Medical Center	0	1	0	2	0	0	1	3
Division of Human Genetics, Children's Hospital of Philadelphia	0	1	0	1	0	0	2	3
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	0	0	0	1	0	0	2	3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	0	2	0	3	0	0	0	3
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	2	0	3	0	0	0	3
NIHR Bioresource Rare Diseases, University of Cambridge	1965	12	0	1	0	0	2	3
Undiagnosed Diseases Network, NIH	0	0	0	2	0	0	1	3
Department of Pathology and Laboratory Medicine, Sinai Health System	0	4	0	2	0	0	1	3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	0	1	0	3	0	0	0	3
Reproductive Health Research and Development, BGI Genomics	0	2	0	3	0	0	0	3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	6	0	2	0	0	0	2
Claritas Genomics	0	0	0	0	0	0	2	2
Institute of Medical Molecular Genetics, University of Zurich	0	6	0	2	0	0	0	2
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation	0	1	0	1	0	0	1	2
Clinical Genomics Laboratory, Washington University in St. Louis	0	0	0	0	0	0	2	2
CSER _CC_NCGL, University of Washington	0	0	0	0	1	0	1	2
Knight Diagnostic Laboratories, Oregon Health and Sciences University	0	1	0	1	1	0	0	2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	1	0	2	0	0	1	2
Génétique des Maladies du Développement, Hospices Civils de Lyon	0	0	0	2	0	0	0	2
ClinGen Hearing Loss Variant Curation Expert Panel	0	2	0	1	0	0	1	2
deCODE genetics, Amgen	0	0	0	2	0	0	0	2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital	0	1	0	1	0	0	1	2
Institute of Human Genetics, University Hospital Muenster	0	0	0	2	0	0	0	2
New York Genome Center	0	1	0	2	0	0	1	2
DASA	0	1	0	2	0	0	0	2
Molecular Genetics, Royal Melbourne Hospital	0	2	0	2	0	0	0	2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital	0	3	0	1	0	0	0	1
Molecular Genetics Laboratory, Institute for Ophthalmic Research	0	3	0	1	0	0	0	1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware	0	0	0	0	0	1	0	1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	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
Elsea Laboratory, Baylor College of Medicine	0	0	0	1	0	0	0	1
Centogene AG - the Rare Disease Company	0	2	0	1	0	0	0	1
Birmingham Platelet Group; University of Birmingham	0	2	0	1	0	0	0	1
Department of Ophthalmology and Visual Sciences Kyoto University	0	0	0	0	0	0	1	1
Clinical Genetics and Genomics, Karolinska University Hospital	0	0	0	1	0	0	0	1
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics	0	0	0	0	0	1	0	1
Stanford Center for Inherited Cardiovascular Disease, Stanford University	0	2	0	0	0	0	1	1
University of Washington Center for Mendelian Genomics, University of Washington	0	2	0	1	0	0	0	1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	0	0	0	1	0	0	0	1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	0	1	0	1	0	0	1	1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	0	3	0	1	0	0	0	1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	0	2	0	1	0	0	0	1
Rui Chen Lab, Baylor College of Medicine	0	0	0	1	0	0	0	1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	0	0	0	1	0	0	0	1
Diagnostic Laboratory, Strasbourg University Hospital	0	0	0	1	0	0	0	1
Donald Williams Parsons Laboratory, Baylor College of Medicine	0	0	0	1	0	0	0	1
Database of Curated Mutations (DoCM)	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
Daryl Scott Lab, Baylor College of Medicine	0	1	0	1	0	0	0	1
Neurogenetics Laboratory - MEYER, AOU Meyer	0	0	0	1	0	0	0	1
Genetics, Medical University of Vienna	0	0	0	1	0	0	0	1
Clinical Genetics Laboratory, Region Ostergotland	0	0	0	1	0	0	0	1
Herman Laboratory, Nationwide Children's Hospital	0	0	0	1	0	0	0	1
SIB Swiss Institute of Bioinformatics	0	0	0	1	0	0	0	1
Laboratoire de Génétique Moléculaire, CHU Bordeaux	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
Rare Disease Group, Clinical Genetics, Karolinska Institutet	0	0	0	1	0	0	1	1
Flegel Lab, National Institutes of Health	0	0	0	1	0	0	0	1
Leiden Open Variation Database	0	1	0	1	0	0	0	1
Molecular Medicine, University of Leeds	0	1	0	1	0	0	0	1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	0	1	0	0	0	0	1	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
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital	0	2	0	1	0	0	0	1
Variantyx, Inc.	0	0	0	1	0	0	0	1
Laboratoire de Genetique Moleculaire, Centre Hospitalier Universitaire de Bordeaux	0	0	0	0	0	0	1	1
Medical Genetics Lab, Policlinico S. Orsola.Malpighi	0	0	0	0	0	0	1	1
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano	0	0	0	0	0	0	1	1
Genetics and Genomics, Alberta Children's Hospital	0	0	0	1	0	0	0	1
Genetics Laboratory, Department of Biology, Semnan University	0	0	0	1	0	0	0	1
Johns Hopkins Genomics, Johns Hopkins University	0	3	0	1	0	0	0	1
University of Washington Department of Laboratory Medicine, University of Washington	0	0	0	1	0	0	0	1
Biochemistry Laboratory of CDMU, Chengde Medical University	0	0	0	1	0	0	0	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
Clinical Genetics Research Group, Karolinska Institutet	0	0	0	1	0	0	0	1
Myriad Genetics, Inc.	0	3	0	0	0	0	1	1
Central Laboratory, The First Hospital of Lanzhou University	0	0	0	1	0	0	0	1
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico	0	7	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
Molecular Genetics, Centre for Human Genetics	0	1	0	1	0	0	0	1
Molecular Biology Laboratory, Fundació Puigvert	0	0	0	1	0	0	0	1
Laboratoire Génétique Moléculaire, CHRU TOURS	0	1	0	1	0	0	0	1
Lifecell International Pvt. Ltd	0	1	0	1	0	0	0	1
Genomic Medicine, Universita Cattolica del Sacro Cuore	0	0	0	1	0	0	0	1
Suma Genomics	0	2	0	1	0	0	0	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	2	0	1	0	0	0	1
DBGen Ocular Genomics	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
Laboratory of Hematology, Radboud University Medical Center	0	3	0	1	0	0	0	1
Arcensus	0	0	0	1	0	0	0	1
Cytogenetics, Genetics Associates, Inc.	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
Institute Of Reproduction And Development, Obstetrics and Gynecology Hospital, Fudan University	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

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_003661.4(APOL1):c.1024A>G (p.Ser342Gly)	rs73885319	0.06773
NM_003661.4(APOL1):c.1152T>G (p.Ile384Met)	rs60910145	0.06710
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	0.00569
NM_000128.4(F11):c.731A>G (p.Gln244Arg)	rs5969	0.00564
NM_006269.2(RP1):c.616-6T>C	rs186571865	0.00458
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)	rs76157638	0.00445
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn)	rs112822256	0.00379
NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile)	rs111033269	0.00379
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln)	rs41276738	0.00377
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)	rs112029032	0.00361
NM_000504.4(F10):c.424G>A (p.Glu142Lys)	rs61753266	0.00347
NM_021870.3(FGG):c.571G>A (p.Gly191Arg)	rs6063	0.00339
NM_000303.3(PMM2):c.422G>A (p.Arg141His)	rs28936415	0.00338
NM_001142800.2(EYS):c.5510G>C (p.Trp1837Ser)	rs199689193	0.00333
NM_016038.4(SBDS):c.258+2T>C	rs113993993	0.00323
NM_000301.5(PLG):c.112A>G (p.Lys38Glu)	rs73015965	0.00282
NM_005141.5(FGB):c.794C>T (p.Pro265Leu)	rs6054	0.00275
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	0.00237
NM_021870.3(FGG):c.323C>G (p.Ala108Gly)	rs148685782	0.00222
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)	rs113624356	0.00212
NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg)	rs61749455	0.00194
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)	rs61751374	0.00178
NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu)	rs2227624	0.00171
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_000488.4(SERPINC1):c.218C>T (p.Pro73Leu)	rs121909551	0.00092
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_022787.4(NMNAT1):c.769G>A (p.Glu257Lys)	rs150726175	0.00087
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	0.00071
NM_000552.5(VWF):c.5851A>G (p.Thr1951Ala)	rs144072210	0.00056
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_014625.4(NPHS2):c.413G>A (p.Arg138Gln)	rs74315342	0.00054
NM_021870.3(FGG):c.140C>T (p.Thr47Ile)	rs138511699	0.00050
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_000350.3(ABCA4):c.926C>G (p.Pro309Arg)	rs61748545	0.00039
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_000350.3(ABCA4):c.5714+5G>A	rs61751407	0.00036
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)	rs77375493	0.00036
NM_005373.3(MPL):c.305G>C (p.Arg102Pro)	rs28928907	0.00035
NM_000020.3(ACVRL1):c.88C>T (p.Pro30Ser)	rs149664056	0.00031
NM_000350.3(ABCA4):c.5461-10T>C	rs1800728	0.00031
NM_016204.4(GDF2):c.776A>G (p.Asn259Ser)	rs140271276	0.00031
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_014140.4(SMARCAL1):c.2114C>T (p.Thr705Ile)	rs200644381	0.00019
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_001060.6(TBXA2R):c.713A>G (p.Asp238Gly)	rs201310328	0.00016
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys)	rs111033258	0.00016
NM_000329.3(RPE65):c.11+5G>A	rs61751276	0.00014
NM_000350.3(ABCA4):c.5196+1137G>A	rs778234759	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_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_000350.3(ABCA4):c.2813T>C (p.Phe938Ser)	rs149071415	0.00009
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser)	rs375315619	0.00009
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_019616.4(F7):c.781C>T (p.Arg261Trp)	rs779589651	0.00008
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val)	rs111033524	0.00008
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe)	rs121912600	0.00008
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_000128.4(F11):c.1288G>A (p.Ala430Thr)	rs753909969	0.00006
NM_000195.5(HPS1):c.1096C>A (p.Pro366Thr)	rs138771756	0.00006
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr)	rs61751402	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.364+1G>A	rs1056071555	0.00006
NM_019616.4(F7):c.845C>T (p.Ala282Val)	rs121964931	0.00006
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg)	rs111033264	0.00006
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)	rs201527662	0.00006
NM_000128.4(F11):c.438C>A (p.Cys146Ter)	rs121965066	0.00005
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln)	rs111033178	0.00005
NM_000488.4(SERPINC1):c.235C>T (p.Arg79Cys)	rs121909547	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_000130.5(F5):c.2862del (p.Ser955fs)	rs765982916	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_002775.5(HTRA1):c.904C>T (p.Arg302Ter)	rs113993970	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_206933.4(USH2A):c.7595-2144A>G	rs786200928	0.00004
NM_000128.4(F11):c.1489C>T (p.Arg497Ter)	rs375422404	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_000407.5(GP1BB):c.127G>T (p.Gly43Trp)	rs551140561	0.00003
NM_001114753.3(ENG):c.1134G>A (p.Ala378=)	rs1329127701	0.00003
NM_005141.5(FGB):c.139C>T (p.Arg47Ter)	rs121909625	0.00003
NM_006269.2(RP1):c.515T>G (p.Leu172Arg)	rs180729424	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.1321C>T (p.Arg441Cys)	rs747006175	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_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_000350.3(ABCA4):c.1804C>T (p.Arg602Trp)	rs61749409	0.00002
NM_000350.3(ABCA4):c.3364G>A (p.Glu1122Lys)	rs61751399	0.00002
NM_000448.3(RAG1):c.2210G>A (p.Arg737His)	rs104894286	0.00002
NM_006269.2(RP1):c.1498_1499del (p.Met500fs)	rs765129639	0.00002
NM_014140.4(SMARCAL1):c.2459G>A (p.Arg820His)	rs200666300	0.00002
NM_032119.4(ADGRV1):c.12798T>A (p.Tyr4266Ter)	rs777309662	0.00002
NM_033550.4(TP53RK):c.727C>T (p.Arg243Cys)	rs553547069	0.00002
NM_153676.4(USH1C):c.216G>A (p.Val72=)	rs151045328	0.00002
NM_201253.3(CRB1):c.1913C>T (p.Ser638Leu)	rs267598278	0.00002
NM_201253.3(CRB1):c.2129A>T (p.Glu710Val)	rs145282040	0.00002
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His)	rs118204016	0.00001
NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln)	rs121909284	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.755+2T>C	rs1220869989	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_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.3064G>A (p.Glu1022Lys)	rs61749459	0.00001
NM_000350.3(ABCA4):c.4253+5G>A	rs61750138	0.00001
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln)	rs61751403	0.00001
NM_000350.3(ABCA4):c.5018+2T>C	rs61750562	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_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.409-1G>A	rs1393747638	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_000506.5(F2):c.1814_1815del (p.His605fs)	rs776618390	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.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_000554.6(CRX):c.119G>A (p.Arg40Gln)	rs771450991	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_003721.4(RFXANK):c.584T>C (p.Leu195Pro)	rs751386365	0.00001
NM_005214.5(CTLA4):c.209G>A (p.Arg70Gln)	rs1581573705	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_015937.6(PIGT):c.1079G>T (p.Gly360Val)	rs1277383877	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_021870.2(FGG):c.902G>A (p.Arg301His)	rs121913088	0.00001
NM_201253.3(CRB1):c.2842+5G>A	rs773914330	0.00001
NM_206933.4(USH2A):c.2081G>A (p.Cys694Tyr)	rs137954284	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.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.905T>C (p.Leu302Pro)	rs1565594217
NM_000043.6(FAS):c.748C>T (p.Arg250Ter)	rs778993919
NM_000128.4(F11):c.1325del (p.Leu442fs)	rs757530565
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.1498T>G (p.Cys500Gly)	rs1571581722
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.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.972dup (p.Met325fs)	rs281865082
NM_000212.3(ITGB3):c.1366A>C (p.Thr456Pro)	rs1598694640
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_000256.3(MYBPC3):c.655G>C (p.Val219Leu)	rs397516068
NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro)	rs782063761
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_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_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter)	rs61753046
NM_000407.5(GP1BB):c.137G>A (p.Trp46Ter)	rs121909752
NM_000419.5(ITGA2B):c.1440-1G>A	rs1598379928
NM_000419.5(ITGA2B):c.2344C>T (p.Arg782Ter)	rs1598377051
NM_000419.5(ITGA2B):c.2992del (p.Trp998fs)	rs1598375578
NM_000419.5(ITGA2B):c.559del (p.Val187fs)	rs1469711487
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.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_001004334.4(GPR179):c.984del (p.Ser329fs)	rs770066665
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.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.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_001282225.2(ADA2):c.1110C>A (p.Asn370Lys)	rs1489114116
NM_001365536.1(SCN9A):c.2576T>C (p.Ile859Thr)	rs80356474
NM_001367916.1(MAGT1):c.992+1G>A	rs1557213306
NM_001371279.1(REEP1):c.59C>A (p.Ala20Glu)	rs121918262
NM_001372044.2(SHANK3):c.496C>T (p.Arg166Ter)	rs1569097392
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_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_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.1309G>A (p.Val437Ile)	rs1568211172
NM_005859.5(PURA):c.98del (p.Gly33fs)
NM_006009.4(TUBA1A):c.5G>A (p.Arg2His)	rs587784491
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys)	rs137853006
NM_006060.6(IKZF1):c.484C>T (p.Arg162Trp)	rs1584925614
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_013275.6(ANKRD11):c.3309dup (p.Asp1104fs)	rs772267579
NM_014249.4(NR2E3):c.767C>A (p.Ala256Glu)	rs377257254
NM_014625.4(NPHS2):c.855_856del (p.Arg286fs)	rs749740335
NM_015175.3(NBEAL2):c.5935C>T (p.Arg1979Trp)	rs771025246
NM_016204.4(GDF2):c.997C>T (p.Arg333Trp)	rs35129734
NM_019616.4(F7):c.1325del (p.Pro442fs)	rs750457207
NM_019616.4(F7):c.149C>G (p.Ser50Cys)	rs546856641
NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter)	rs780667159
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.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_033100.4(CDHR1):c.2522_2528del (p.Ile841fs)	rs794727197
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_201253.3(CRB1):c.1006T>C (p.Cys336Arg)	rs878853370
NM_201253.3(CRB1):c.1712A>C (p.Glu571Ala)	rs773233587
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del)	rs398124615
NM_206933.4(USH2A):c.9860_9873del (p.His3287fs)	rs1388040238
Single allele