Variants from Blueprint Genetics with conflicting interpretations

Minimum review status of the submission from Blueprint Genetics:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Blueprint Genetics:	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
3592	1052	3	489	151	5	240	827

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
Blueprint Genetics		pathogenic	likely pathogenic	uncertain significance	likely benign	benign	drug response	protective	other
	pathogenic	3	248	32	4	1	1	1	0
	likely pathogenic	206	0	109	4	1	0	0	0
	uncertain significance	34	72	0	114	26	1	0	2
	likely benign	0	3	26	0	29	0	0	0
	benign	0	0	3	6	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
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	0	353	0	136	7	0	43	186
GeneDx	0	411	0	72	37	0	47	156
Labcorp Genetics (formerly Invitae), Labcorp	0	192	2	54	23	0	31	110
Ambry Genetics	0	215	0	27	31	0	26	84
PreventionGenetics, part of Exact Sciences	0	139	0	27	26	0	13	66
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	111	0	20	28	0	17	65
Dept Of Ophthalmology, Nagoya University	0	75	0	28	8	0	23	59
CeGaT Center for Human Genetics Tuebingen	0	150	0	15	24	0	11	50
Fulgent Genetics, Fulgent Genetics	0	110	0	26	1	0	9	36
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	74	0	11	10	0	12	33
Mayo Clinic Laboratories, Mayo Clinic	0	90	0	11	12	0	10	33
Eurofins Ntd Llc (ga)	0	79	0	13	6	0	13	32
NIHR Bioresource Rare Diseases, University of Cambridge	0	19	0	29	0	0	1	30
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	0	61	0	15	7	0	6	28
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	72	0	11	7	0	8	26
Clinical Genetics, Academic Medical Center	0	20	0	15	6	0	4	25
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	0	54	0	15	4	0	4	23
Stanford Center for Inherited Cardiovascular Disease, Stanford University	0	22	0	13	5	0	4	22
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	42	0	8	10	0	2	20
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	27	0	10	8	0	2	20
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals	0	10	0	8	0	0	7	15
Genetic Services Laboratory, University of Chicago	0	20	0	3	9	0	2	14
Revvity Omics, Revvity	0	75	0	6	3	0	5	14
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	0	7	0	7	3	0	2	12
OMIM	0	41	0	7	0	3	2	12
3billion	0	33	0	9	0	0	2	11
All of Us Research Program, National Institutes of Health	0	24	0	4	2	0	5	11
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	39	0	6	3	0	2	11
Athena Diagnostics	0	30	0	7	2	0	1	10
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	0	6	0	4	6	0	0	10
Center for Medical Genetics Ghent, University of Ghent	0	7	0	9	0	0	1	10
Clinical Genetics Laboratory, Skane University Hospital Lund	0	61	0	6	2	0	1	9
Dasa	0	43	0	5	0	0	4	9
Institute of Human Genetics, University of Leipzig Medical Center	0	12	0	6	0	0	3	9
AiLife Diagnostics, AiLife Diagnostics	0	14	0	5	0	0	3	8
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	0	14	0	3	1	0	4	8
Illumina Laboratory Services, Illumina	0	14	0	2	2	0	4	8
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	0	12	0	5	0	0	3	8
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	0	27	0	7	0	0	1	8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	24	0	5	0	0	3	8
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	0	6	0	2	0	0	4	6
Color Diagnostics, LLC DBA Color Health	0	19	0	1	4	0	1	6
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	0	25	0	4	2	0	0	6
CSER _CC_NCGL, University of Washington	0	8	0	2	1	0	2	5
Dubai Health Genomic Medicine Center, Dubai Health	0	7	0	2	0	0	3	5
Genome Diagnostics Laboratory, Amsterdam University Medical Center	0	13	0	2	1	0	2	5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	2	0	4	0	0	1	5
Robarts Research Institute, Western University	0	1	0	4	1	0	0	5
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute	0	11	0	3	1	0	0	4
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	0	6	0	2	0	0	2	4
Department of Pathology and Laboratory Medicine, Sinai Health System	0	8	0	3	1	0	0	4
Gharavi Laboratory, Columbia University	0	14	0	3	1	0	0	4
Juno Genomics, Hangzhou Juno Genomics, Inc	0	13	0	4	0	0	0	4
Laboratory of Genetics, Children's Clinical University Hospital Latvia	0	23	0	3	0	0	1	4
Variantyx, Inc.	0	4	0	4	0	0	0	4
Baylor Genetics	0	14	0	1	0	0	2	3
Centre of Medical Genetics, University of Antwerp	0	7	0	3	0	0	0	3
ClinGen FBN1 Variant Curation Expert Panel, ClinGen	0	2	0	1	0	0	2	3
LDLR-LOVD, British Heart Foundation	0	3	0	3	0	0	0	3
Laboratory of Genetics and Molecular Cardiology, University of São Paulo	0	6	0	3	0	0	0	3
MGZ Medical Genetics Center	0	6	0	1	0	0	2	3
Mendelics	0	7	0	1	0	0	2	3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	0	4	0	2	0	0	1	3
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia	0	2	0	2	0	0	0	2
Center for Human Genetics, Inc, Center for Human Genetics, Inc	0	5	0	2	0	0	0	2
Center for Personalized Medicine, Children's Hospital Los Angeles	0	4	0	2	0	0	0	2
Center of Genomic medicine, Geneva, University Hospital of Geneva	0	2	0	2	0	0	0	2
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix	0	3	0	1	0	0	1	2
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	7	0	2	0	0	0	2
Centre for Population Genomics, CPG	0	2	0	1	0	0	1	2
ClinGen Cardiomyopathy Variant Curation Expert Panel	0	1	0	1	0	0	1	2
ClinPGx	0	0	0	0	0	2	0	2
Collagen Diagnostic Laboratory, University of Washington	0	0	0	2	0	0	0	2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	2	0	2	0	0	0	2
First Genomix Gene Laboratory, Genetic Diagnostics Department	0	5	0	1	0	0	1	2
GENinCode PLC	0	2	0	1	1	0	0	2
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub	0	8	0	2	0	0	0	2
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	3	0	1	1	0	0	2
Genomics England Pilot Project, Genomics England	0	1	0	2	0	0	0	2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	18	0	1	0	0	1	2
Génétique des Maladies du Développement, Hospices Civils de Lyon	0	1	0	2	0	0	0	2
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA	0	1	0	2	0	0	0	2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn	0	1	0	1	0	0	1	2
Laan Lab, Human Genetics Research Group, University of Tartu	0	1	0	2	0	0	0	2
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum	0	3	0	2	0	0	0	2
Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research	0	4	0	2	0	0	0	2
NHS Central & South Genomic Laboratory Hub	0	4	0	1	0	0	1	2
Natera, Inc.	0	6	0	1	0	0	1	2
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel	0	10	0	2	0	0	0	2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	3	0	0	0	0	1	1
Breakthrough Genomics, Breakthrough Genomics	0	21	0	1	0	0	0	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	2	0	1	0	0	0	1
CENTOGENE GmbH and LLC - Guiding Precision Medicine	0	5	0	1	0	0	0	1
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service	0	2	0	1	0	0	0	1
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge	0	3	0	1	0	0	0	1
Cavalleri Lab, Royal College of Surgeons in Ireland	0	0	1	0	0	0	0	1
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	0	2	0	1	0	0	0	1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	1	0	0	0	0	1	1
Center of Human Genetics, Hôpital Erasme	0	0	0	1	0	0	0	1
Centre of Medical Genetics, University Hospital Muenster	0	9	0	0	0	0	1	1
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel	0	1	0	1	0	0	0	1
ClinGen Hearing Loss Variant Curation Expert Panel	0	0	0	1	0	0	0	1
Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University	0	3	0	0	0	0	1	1
Clinical Genetics Laboratory, Region Ostergotland	0	3	0	1	0	0	0	1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	0	5	0	1	0	0	0	1
Clinical Genetics and Genomics, Karolinska University Hospital	0	17	0	1	0	0	0	1
Clinical Genomics Laboratory, Stanford Medicine	0	2	0	0	1	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	4	0	1	0	0	0	1
Department of Genetics, Fundacion Jimenez Diaz University Hospital	0	0	0	0	0	0	1	1
Department of Human Genetics, Hannover Medical School	0	3	0	1	0	0	0	1
Department of Vascular Biology, Beijing Anzhen Hospital	0	1	0	1	0	0	0	1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS	0	0	0	1	0	0	0	1
Division of Clinical Immunology and Allergy, Necmettin Erbakan University, Faculty of Medicine	0	0	0	0	1	0	0	1
Division of Human Genetics, Children's Hospital of Philadelphia	0	0	0	0	0	0	1	1
Forensic Genetics Laboratory, Harris County Institute of Forensic Sciences	0	1	0	0	0	0	1	1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	0	0	0	0	0	1	1
Fundacion Hipercolesterolemia Familiar	0	3	0	1	0	0	0	1
Genetics and Genomics Program, Sidra Medicine	0	0	0	0	1	0	0	1
Genetics and Molecular Pathology, SA Pathology	0	7	0	0	0	0	1	1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University	0	0	1	1	0	0	0	1
Genomenon, Inc, Genomenon, Inc	0	1	0	1	0	0	0	1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	0	1	0	1	0	0	0	1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	0	2	0	1	0	0	0	1
Human Genetics Bochum, Ruhr University Bochum	0	0	0	1	0	0	0	1
Iberoamerican FH Network	0	3	0	1	0	0	0	1
Immunogenetics Laboratory, Johns Hopkins All Children's Hospital	0	0	0	1	0	0	0	1
Institute for Integrative and Experimental Genomics, University of Luebeck	0	0	0	0	1	0	0	1
Institute of Human Genetics Munich, TUM University Hospital	0	4	0	1	0	0	0	1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn	0	1	0	1	0	0	0	1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg	0	2	0	1	0	0	0	1
Institute of Human Genetics, Medical University Innsbruck	0	0	0	0	0	0	1	1
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf	0	0	0	0	0	0	1	1
Institute of Immunology and Genetics Kaiserslautern	0	6	0	1	0	0	0	1
Institute of Medical Molecular Genetics, University of Zurich	0	2	0	1	0	0	0	1
Institute of Reproductive Genetics, University of Münster	0	2	0	0	0	0	1	1
Johns Hopkins Genomics, Johns Hopkins University	0	0	0	0	0	0	1	1
Kariminejad - Najmabadi Pathology & Genetics Center	0	2	0	1	0	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	7	0	1	0	0	0	1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics	0	1	0	1	0	0	0	1
Lifecell International Pvt. Ltd	0	1	0	1	0	0	0	1
Lildballe Lab, Aarhus University Hospital	0	0	0	0	0	0	1	1
Loeys Lab, Universiteit Antwerpen	0	0	0	0	1	0	0	1
MVZ Martinsried, Medicover Genetics	0	5	0	0	0	0	1	1
Medical Research Institute, Tokyo Medical and Dental University	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 Diagnostics Lab, Nemours Children's Health, Delaware	0	9	0	1	0	0	0	1
Molecular Genetics Laboratory, Children's Mercy Hospital and Clinics	0	1	0	1	0	0	0	1
Molecular Genetics, Royal Melbourne Hospital	0	6	0	0	1	0	0	1
Myriad Genetics, Inc.	0	6	0	1	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	6	0	1	0	0	0	1
OLLIN Analises Genomicas, OLLIN	0	3	0	1	0	0	0	1
Ocular Genomics Institute, Massachusetts Eye and Ear	0	4	0	0	0	0	1	1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations	0	2	0	0	0	0	1	1
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking C/o Practice Pomarino	0	0	0	0	0	0	1	1
Quest Diagnostics Nichols Institute San Juan Capistrano	0	9	0	0	0	0	1	1
R&I Genetics srl	0	0	0	0	0	0	1	1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	0	18	0	0	0	0	1	1
Rare Disease Genomics Group, St George's University of London	0	1	0	1	0	0	0	1
Reproductive Health Research and Development, BGI Genomics	0	2	0	0	0	0	1	1
RettBASE	0	2	0	1	0	0	0	1
Sangiuolo Lab - Medical Genetics Laboratory, Tor Vergata University	0	0	0	1	0	0	0	1
Service de Génétique Moléculaire, Hôpital Robert Debré	0	2	0	0	0	0	1	1
Service of Pediatric Gastrohepatology and Metabolic Diseases, University of Medicine of Tirana	0	0	0	1	0	0	0	1
Sydney Genome Diagnostics, Children's Hospital Westmead	0	0	0	0	0	0	1	1
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille	0	3	0	1	0	0	0	1
Yale Center for Mendelian Genomics, Yale University	0	0	0	0	0	0	1	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_000410.4(HFE):c.187C>G (p.His63Asp)	rs1799945	0.10170
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)	rs1050829	0.08672
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)	rs1800562	0.03738
NM_000402.4(G6PD):c.292G>A (p.Val98Met)	rs1050828	0.03616
NM_004415.4(DSP):c.913A>T (p.Ile305Phe)	rs17604693	0.02618
NM_000410.4(HFE):c.193A>T (p.Ser65Cys)	rs1800730	0.00992
NM_000404.4(GLB1):c.1306C>T (p.Leu436Phe)	rs34421970	0.00952
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn)	rs1805128	0.00841
NM_000384.3(APOB):c.10294C>G (p.Gln3432Glu)	rs1042023	0.00669
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His)	rs62642564	0.00654
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met)	rs35078470	0.00577
NM_000064.4(C3):c.3671G>A (p.Gly1224Asp)	rs11569534	0.00537
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu)	rs55866005	0.00531
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn)	rs72677225	0.00512
NM_033100.4(CDHR1):c.783G>A (p.Pro261=)	rs147346345	0.00446
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)	rs76157638	0.00445
NM_001005242.3(PKP2):c.1460T>G (p.Ile487Ser)	rs147240502	0.00417
NM_007078.3(LDB3):c.352G>A (p.Val118Met)	rs35507268	0.00408
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)	rs34557412	0.00391
NM_001148.6(ANK2):c.4744C>T (p.Arg1582Trp)	rs35249198	0.00379
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu)	rs10482810	0.00359
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)	rs112029032	0.00346
NM_016038.4(SBDS):c.258+2T>C	rs113993993	0.00337
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn)	rs201370621	0.00326
NM_033337.3(CAV3):c.233C>T (p.Thr78Met)	rs72546668	0.00302
NM_000593.6(TAP1):c.1547C>T (p.Pro516Leu)	rs2228106	0.00282
NM_001267550.2(TTN):c.26863A>G (p.Ile8955Val)	rs72648994	0.00274
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)	rs1800553	0.00269
NM_000350.3(ABCA4):c.1654G>A (p.Val552Ile)	rs145525174	0.00246
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe)	rs150821281	0.00243
NM_000065.5(C6):c.2381+2T>C	rs76202909	0.00242
NM_000350.3(ABCA4):c.4771G>A (p.Gly1591Arg)	rs113106943	0.00232
NM_000064.4(C3):c.4100T>C (p.Ile1367Thr)	rs11569541	0.00226
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp)	rs201620358	0.00221
NM_002474.3(MYH11):c.4604G>A (p.Arg1535Gln)	rs137934837	0.00213
NM_001364905.1(LRBA):c.1399A>G (p.Met467Val)	rs116355217	0.00196
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_000350.3(ABCA4):c.1610G>A (p.Arg537His)	rs61752395	0.00176
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)	rs137854475	0.00168
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)	rs61751374	0.00164
NM_000081.4(LYST):c.3683A>G (p.Asn1228Ser)	rs145553827	0.00157
NM_182914.3(SYNE2):c.7898A>G (p.Asn2633Ser)	rs190582637	0.00157
NM_001282225.2(ADA2):c.927G>A (p.Met309Ile)	rs146597836	0.00156
NM_001364905.1(LRBA):c.8551C>T (p.Arg2851Cys)	rs145709687	0.00152
NM_000431.4(MVK):c.1129G>A (p.Val377Ile)	rs28934897	0.00149
NM_000433.4(NCF2):c.113G>A (p.Arg38Gln)	rs147415774	0.00145
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)	rs80338902	0.00137
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met)	rs58331765	0.00136
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr)	rs1762111	0.00132
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly)	rs28763965	0.00131
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys)	rs140148105	0.00130
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile)	rs201162411	0.00116
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr)	rs112287730	0.00107
NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr)	rs116471343	0.00096
NM_000238.4(KCNH2):c.3133C>T (p.Leu1045Phe)	rs199473025	0.00094
NM_003476.5(CSRP3):c.299G>A (p.Arg100His)	rs138218523	0.00091
NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys)	rs1800548	0.00089
NM_000350.3(ABCA4):c.2966T>C (p.Val989Ala)	rs61749454	0.00089
NM_001377.3(DYNC2H1):c.6047A>G (p.Tyr2016Cys)	rs200190291	0.00086
NM_012452.3(TNFRSF13B):c.568G>C (p.Gly190Arg)	rs150101848	0.00083
NM_007078.3(LDB3):c.466G>A (p.Ala156Thr)	rs200596619	0.00082
NM_016938.5(EFEMP2):c.934A>G (p.Thr312Ala)	rs148410446	0.00081
NM_000090.4(COL3A1):c.1550C>T (p.Pro517Leu)	rs142085247	0.00080
NM_001267550.2(TTN):c.2775+4G>A	rs548681281	0.00080
NM_032415.7(CARD11):c.3145-3C>T	rs200456391	0.00077
NM_001364905.1(LRBA):c.787C>G (p.Leu263Val)	rs143625481	0.00076
NM_003239.5(TGFB3):c.646+13T>C	rs780891440	0.00076
NM_002474.3(MYH11):c.4673C>T (p.Thr1558Met)	rs111854563	0.00075
NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn)	rs121912705	0.00074
NM_006904.7(PRKDC):c.4009G>A (p.Val1337Ile)	rs56080897	0.00070
NM_024422.6(DSC2):c.304G>A (p.Glu102Lys)	rs144799937	0.00070
NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu)	rs150046042	0.00070
NM_002474.3(MYH11):c.1871G>A (p.Arg624His)	rs201991156	0.00067
NM_000350.3(ABCA4):c.3547G>T (p.Gly1183Cys)	rs75267647	0.00066
NM_000335.5(SCN5A):c.659C>T (p.Thr220Ile)	rs45620037	0.00064
NM_014000.3(VCL):c.1555A>C (p.Ile519Leu)	rs141033098	0.00064
NM_000238.4(KCNH2):c.982C>T (p.Arg328Cys)	rs199473505	0.00063
NM_001006658.3(CR2):c.1676G>A (p.Gly559Glu)	rs143614333	0.00062
NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter)	rs143994166	0.00062
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp)	rs36210422	0.00061
NM_002474.3(MYH11):c.3196G>A (p.Asp1066Asn)	rs200315340	0.00061
NM_001177316.2(SLC34A3):c.575C>T (p.Ser192Leu)	rs199690076	0.00059
NM_006904.7(PRKDC):c.3709G>A (p.Ala1237Thr)	rs191531119	0.00059
NM_001037.5(SCN1B):c.412G>A (p.Val138Ile)	rs72558029	0.00058
NM_000335.5(SCN5A):c.568C>G (p.Arg190Gly)	rs199473068	0.00057
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser)	rs192766485	0.00057
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala)	rs191564916	0.00057
NM_022787.4(NMNAT1):c.37G>A (p.Ala13Thr)	rs138613460	0.00057
NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val)	rs77331749	0.00056
NM_006904.7(PRKDC):c.2667G>C (p.Glu889Asp)	rs200126714	0.00056
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)	rs148660051	0.00056
NM_000350.3(ABCA4):c.981C>T (p.Pro327=)	rs61753057	0.00054
NM_001361.5(DHODH):c.403C>T (p.Arg135Cys)	rs201230446	0.00054
NM_024422.6(DSC2):c.1901G>A (p.Arg634His)	rs200475862	0.00052
NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser)	rs141137410	0.00049
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln)	rs61750641	0.00048
NM_004517.4(ILK):c.157T>A (p.Leu53Met)	rs200336608	0.00048
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)	rs137852944	0.00048
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)	rs199605265	0.00046
NM_017617.5(NOTCH1):c.3901+3G>A	rs373113999	0.00043
NM_001018005.2(TPM1):c.375-3C>T	rs202228866	0.00042
NM_003098.3(SNTA1):c.784A>C (p.Thr262Pro)	rs200316080	0.00041
NM_000169.3(GLA):c.352C>T (p.Arg118Cys)	rs148158093	0.00040
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter)	rs137852700	0.00038
NM_000432.4(MYL2):c.141C>A (p.Asn47Lys)	rs199474808	0.00038
NM_014249.4(NR2E3):c.119-2A>C	rs2723341	0.00038
NM_000393.5(COL5A2):c.1976C>T (p.Pro659Leu)	rs145404046	0.00037
NM_000350.3(ABCA4):c.6316C>T (p.Arg2106Cys)	rs61750648	0.00034
NM_001142800.2(EYS):c.2137+1G>A	rs199740930	0.00034
NM_012452.3(TNFRSF13B):c.260T>A (p.Ile87Asn)	rs72553877	0.00034
NM_000350.3(ABCA4):c.1964T>G (p.Phe655Cys)	rs200692438	0.00033
NM_000719.7(CACNA1C):c.5444G>C (p.Arg1815Thr)	rs374425919	0.00033
NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys)	rs147415451	0.00033
NM_000350.3(ABCA4):c.514G>A (p.Gly172Ser)	rs61748532	0.00032
NM_000350.3(ABCA4):c.5714+5G>A	rs61751407	0.00032
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln)	rs28937873	0.00032
NM_000587.4(C7):c.2350+2T>C	rs201240159	0.00031
NM_139125.4(MASP1):c.1507C>T (p.Arg503Cys)	rs201025468	0.00031
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln)	rs78769542	0.00030
NM_139125.4(MASP1):c.910C>A (p.Leu304Ile)	rs145057248	0.00030
NM_000138.5(FBN1):c.3058A>G (p.Thr1020Ala)	rs111801777	0.00029
NM_000350.3(ABCA4):c.5461-10T>C	rs1800728	0.00029
NM_144573.4(NEXN):c.1788T>G (p.Ser596Arg)	rs199738750	0.00029
NM_015474.4(SAMHD1):c.-10A>G	rs199721283	0.00027
NM_207352.4(CYP4V2):c.367A>G (p.Met123Val)	rs149684063	0.00027
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly)	rs137853027	0.00026
NM_015662.3(IFT172):c.831G>C (p.Glu277Asp)	rs150938554	0.00025
NM_201253.3(CRB1):c.2230C>A (p.Arg744=)	rs150412614	0.00025
NR_023343.3(RNU4ATAC):n.8C>T	rs370715569	0.00025
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn)	rs201307101	0.00024
NM_000350.3(ABCA4):c.6119G>A (p.Arg2040Gln)	rs148460146	0.00024
NM_001375808.2(LPIN2):c.1168+6C>T	rs200130790	0.00024
NM_001378969.1(KCND3):c.641A>G (p.Lys214Arg)	rs142744204	0.00024
NM_005419.4(STAT2):c.250C>A (p.Gln84Lys)	rs150901100	0.00024
NM_004006.3(DMD):c.1337A>G (p.His446Arg)	rs72468699	0.00023
NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu)	rs1801269	0.00022
NM_007078.3(LDB3):c.1049C>T (p.Thr350Ile)	rs200796750	0.00022
NM_206933.4(USH2A):c.13478G>A (p.Arg4493His)	rs138879998	0.00022
NM_002230.4(JUP):c.2207C>T (p.Pro736Leu)	rs151178348	0.00021
NM_032415.7(CARD11):c.1595C>T (p.Thr532Met)	rs201780608	0.00021
NM_020778.5(ALPK3):c.407C>T (p.Thr136Ile)	rs56015306	0.00020
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys)	rs61750120	0.00019
NM_004612.4(TGFBR1):c.214A>T (p.Ile72Leu)	rs111513627	0.00019
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu)	rs201709513	0.00019
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys)	rs45553235	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_001252024.2(TRPM1):c.362T>C (p.Leu121Pro)	rs191205969	0.00016
NM_004006.3(DMD):c.5701G>A (p.Ala1901Thr)	rs201302282	0.00016
NM_004183.4(BEST1):c.584C>T (p.Ala195Val)	rs200277476	0.00016
NM_017999.5(RNF31):c.3048C>T (p.Asp1016=)	rs377298249	0.00016
NM_020297.4(ABCC9):c.1909G>A (p.Val637Ile)	rs113542001	0.00015
NM_000204.5(CFI):c.905-3T>C	rs377535161	0.00014
NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala)	rs121909207	0.00014
NM_000393.5(COL5A2):c.322+1G>C	rs770598613	0.00014
NM_206933.4(USH2A):c.12790G>A (p.Glu4264Lys)	rs200792578	0.00014
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser)	rs104893924	0.00013
NM_000329.3(RPE65):c.11+5G>A	rs61751276	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_206933.4(USH2A):c.6937G>T (p.Gly2313Cys)	rs199840367	0.00013
NM_000350.3(ABCA4):c.5196+1137G>A	rs778234759	0.00012
NM_001298.3(CNGA3):c.1669G>A (p.Gly557Arg)	rs104893615	0.00012
NM_012452.3(TNFRSF13B):c.512T>G (p.Leu171Arg)	rs143027621	0.00012
NM_000081.4(LYST):c.9628-15C>T	rs751859873	0.00011
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg)	rs397516050	0.00011
NM_000350.3(ABCA4):c.1522C>T (p.Arg508Cys)	rs138157885	0.00011
NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro)	rs144601090	0.00011
NM_006017.3(PROM1):c.2490-2A>G	rs375813885	0.00011
NM_014780.5(CUL7):c.3041T>G (p.Leu1014Arg)	rs61752334	0.00011
NM_017617.5(NOTCH1):c.7400C>T (p.Ser2467Leu)	rs375025242	0.00011
NM_000350.3(ABCA4):c.6718A>G (p.Thr2240Ala)	rs779585931	0.00010
NM_003190.5(TAPBP):c.619C>T (p.Arg207Ter)	rs767195857	0.00010
NM_014014.5(SNRNP200):c.1792C>T (p.Arg598Cys)	rs367922991	0.00010
NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys)	rs137853197	0.00010
NM_000257.4(MYH7):c.2606G>A (p.Arg869His)	rs202141173	0.00009
NM_000257.4(MYH7):c.4423C>T (p.Arg1475Cys)	rs139646545	0.00009
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr)	rs200939753	0.00009
NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu)	rs61750145	0.00009
NM_000350.3(ABCA4):c.71G>A (p.Arg24His)	rs62645958	0.00009
NM_000350.3(ABCA4):c.872C>T (p.Pro291Leu)	rs190540405	0.00009
NM_001267550.2(TTN):c.17183-7C>T	rs371785683	0.00009
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu)	rs199826737	0.00009
NM_004928.3(CFAP410):c.33_34insAGCTGCACAGCGTGCA (p.Ala12fs)	rs748531024	0.00008
NM_032578.4(MYPN):c.757G>C (p.Gly253Arg)	rs201983087	0.00008
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys)	rs368049814	0.00008
NM_000219.6(KCNE1):c.29C>T (p.Thr10Met)	rs144917638	0.00007
NM_000335.5(SCN5A):c.4975A>G (p.Ile1659Val)	rs199473625	0.00007
NM_000350.3(ABCA4):c.2813T>C (p.Phe938Ser)	rs149071415	0.00007
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr)	rs749909863	0.00007
NM_001276345.2(TNNT2):c.762G>T (p.Glu254Asp)	rs45466197	0.00007
NM_002294.3(LAMP2):c.929-5T>C	rs375341409	0.00007
NM_003036.4(SKI):c.1568C>T (p.Ser523Leu)	rs730880212	0.00007
NM_015937.6(PIGT):c.1582G>A (p.Val528Met)	rs771157170	0.00007
NM_020774.4(MIB1):c.376C>T (p.Arg126Ter)	rs190657514	0.00007
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg)	rs111033264	0.00007
NM_000047.3(ARSL):c.1163G>A (p.Arg388His)	rs754500316	0.00006
NM_000152.5(GAA):c.1356C>T (p.Ala452=)	rs757893858	0.00006
NM_000283.4(PDE6B):c.811G>A (p.Glu271Lys)	rs374156343	0.00006
NM_000350.3(ABCA4):c.1531C>T (p.Arg511Cys)	rs752786160	0.00006
NM_001025603.2(RFX5):c.1639G>A (p.Gly547Ser)	rs147579805	0.00006
NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His)	rs563762318	0.00006
NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter)	rs137853190	0.00006
NM_003476.5(CSRP3):c.16G>A (p.Gly6Arg)	rs185980145	0.00006
NM_004281.4(BAG3):c.785C>T (p.Ala262Val)	rs397516883	0.00006
NM_005477.3(HCN4):c.2605G>A (p.Ala869Thr)	rs775134377	0.00006
NM_030928.4(CDT1):c.1402G>A (p.Glu468Lys)	rs200652608	0.00006
NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp)	rs180675584	0.00006
NM_138694.4(PKHD1):c.8518C>T (p.Arg2840Cys)	rs200432861	0.00006
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His)	rs527236139	0.00006
NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp)	rs539192853	0.00006
NM_206933.4(USH2A):c.8682-9A>G	rs372347027	0.00006
NM_000022.4(ADA):c.872C>T (p.Ser291Leu)	rs121908721	0.00005
NM_000169.3(GLA):c.640-801G>A	rs199473684	0.00005
NM_000257.4(MYH7):c.5243G>A (p.Cys1748Tyr)	rs200303340	0.00005
NM_000258.3(MYL3):c.466G>A (p.Val156Met)	rs199474707	0.00005
NM_000350.3(ABCA4):c.1715G>A (p.Arg572Gln)	rs61748559	0.00005
NM_000350.3(ABCA4):c.4519G>A (p.Gly1507Arg)	rs568792949	0.00005
NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn)	rs62642574	0.00005
NM_000350.3(ABCA4):c.6449G>A (p.Cys2150Tyr)	rs61751384	0.00005
NM_001105206.3(LAMA4):c.1962G>A (p.Ala654=)	rs140246538	0.00005
NM_001298.3(CNGA3):c.1117G>A (p.Val373Met)	rs552553452	0.00005
NM_001379270.1(CNGA1):c.1528C>T (p.Arg510Ter)	rs199584830	0.00005
NM_004006.3(DMD):c.8851C>T (p.Arg2951Cys)	rs760516307	0.00005
NM_006269.2(RP1):c.1186C>T (p.Arg396Ter)	rs201493928	0.00005
NM_000081.4(LYST):c.4705A>C (p.Asn1569His)	rs767687843	0.00004
NM_000256.3(MYBPC3):c.956A>C (p.Glu319Ala)	rs545675333	0.00004
NM_000257.4(MYH7):c.1988G>A (p.Arg663His)	rs371898076	0.00004
NM_000257.4(MYH7):c.2206A>G (p.Ile736Val)	rs397516138	0.00004
NM_000350.3(ABCA4):c.1699G>A (p.Val567Met)	rs74516571	0.00004
NM_000350.3(ABCA4):c.1819G>A (p.Gly607Arg)	rs61749412	0.00004
NM_000350.3(ABCA4):c.4773+3A>G	rs759672616	0.00004
NM_000350.3(ABCA4):c.859-9T>C	rs529598960	0.00004
NM_001134363.3(RBM20):c.3574-6C>G	rs762069628	0.00004
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter)	rs574660186	0.00004
NM_003098.3(SNTA1):c.452C>T (p.Ala151Val)	rs772936861	0.00004
NM_005534.4(IFNGR2):c.665A>T (p.Asn222Ile)	rs201843430	0.00004
NM_006269.2(RP1):c.121T>C (p.Tyr41His)	rs746359399	0.00004
NM_006343.3(MERTK):c.2164C>T (p.Arg722Ter)	rs541717028	0.00004
NM_015426.5(POC1A):c.649C>T (p.Arg217Trp)	rs372247136	0.00004
NM_138694.4(PKHD1):c.3089C>T (p.Ala1030Val)	rs777976050	0.00004
NM_144596.4(TTC8):c.489G>A (p.Thr163=)	rs119103286	0.00004
NM_152384.3(BBS5):c.619-1G>C	rs753234582	0.00004
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile)	rs28940315	0.00004
NM_170707.4(LMNA):c.1189C>T (p.Arg397Cys)	rs374726751	0.00004
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys)	rs62635654	0.00004
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys)	rs368675850	0.00004
NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg)	rs368687374	0.00004
NM_206933.4(USH2A):c.486-14G>A	rs374536346	0.00004
NM_206933.4(USH2A):c.802G>A (p.Gly268Arg)	rs111033280	0.00004
NM_000138.5(FBN1):c.4405C>T (p.Arg1469Cys)	rs587782946	0.00003
NM_000256.3(MYBPC3):c.1624+4A>T	rs397515916	0.00003
NM_000257.4(MYH7):c.1324C>T (p.Arg442Cys)	rs148808089	0.00003
NM_000257.4(MYH7):c.1325G>A (p.Arg442His)	rs730880870	0.00003
NM_000257.4(MYH7):c.1632C>T (p.Thr544=)	rs587781089	0.00003
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)	rs3218716	0.00003
NM_000274.4(OAT):c.897C>G (p.Tyr299Ter)	rs121965057	0.00003
NM_000335.5(SCN5A):c.3914G>A (p.Arg1305His)	rs730880207	0.00003
NM_000335.5(SCN5A):c.739G>C (p.Val247Leu)	rs199473078	0.00003
NM_000350.3(ABCA4):c.1609C>T (p.Arg537Cys)	rs61748556	0.00003
NM_000350.3(ABCA4):c.3056C>T (p.Thr1019Met)	rs201855602	0.00003
NM_000350.3(ABCA4):c.3323G>A (p.Arg1108His)	rs61750121	0.00003
NM_000350.3(ABCA4):c.4328G>A (p.Arg1443His)	rs61750142	0.00003
NM_000350.3(ABCA4):c.5381C>A (p.Ala1794Asp)	rs61751406	0.00003
NM_000350.3(ABCA4):c.5413A>G (p.Asn1805Asp)	rs61753029	0.00003
NM_000350.3(ABCA4):c.6721C>G (p.Leu2241Val)	rs61748521	0.00003
NM_000433.4(NCF2):c.550C>T (p.Arg184Ter)	rs766745748	0.00003
NM_001005242.3(PKP2):c.2014-1G>C	rs193922674	0.00003
NM_001040151.2(SCN3B):c.60T>G (p.Ser20Arg)	rs771342044	0.00003
NM_001142800.2(EYS):c.8834G>A (p.Gly2945Glu)	rs1161453292	0.00003
NM_001283009.2(RTEL1):c.3075C>T (p.Gly1025=)	rs766455566	0.00003
NM_001770.6(CD19):c.1635del (p.Gly546fs)	rs774006181	0.00003
NM_001852.4(COL9A2):c.186G>A (p.Pro62=)	rs1085307973	0.00003
NM_002427.4(MMP13):c.325C>T (p.Arg109Ter)	rs369083541	0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)	rs376607329	0.00003
NM_003322.6(TULP1):c.1495+1G>A	rs281865168	0.00003
NM_004183.4(BEST1):c.37C>T (p.Arg13Cys)	rs886041141	0.00003
NM_006343.3(MERTK):c.1405G>T (p.Val469Phe)	rs79943145	0.00003
NM_022168.4(IFIH1):c.2045-1G>A	rs748813106	0.00003
NM_022168.4(IFIH1):c.2465G>A (p.Arg822Gln)	rs376048533	0.00003
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala)	rs199568593	0.00003
NM_170707.4(LMNA):c.937-8C>A	rs751707982	0.00003
NM_201253.3(CRB1):c.1046A>T (p.Gln349Leu)	rs148551147	0.00003
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met)	rs28939720	0.00003
NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser)	rs767648174	0.00003
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys)	rs750396156	0.00003
NM_206933.4(USH2A):c.8790T>G (p.Asn2930Lys)	rs754774098	0.00003
NM_000256.3(MYBPC3):c.2003G>A (p.Arg668His)	rs727503191	0.00002
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg)	rs187830361	0.00002
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu)	rs397516068	0.00002
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys)	rs121913630	0.00002
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln)	rs193922390	0.00002
NM_000257.4(MYH7):c.5561C>T (p.Thr1854Met)	rs372381770	0.00002
NM_000257.4(MYH7):c.958G>A (p.Val320Met)	rs376897125	0.00002
NM_000329.3(RPE65):c.74C>T (p.Pro25Leu)	rs199683808	0.00002
NM_000350.3(ABCA4):c.179C>T (p.Ala60Val)	rs55732384	0.00002
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp)	rs61749409	0.00002
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln)	rs61751403	0.00002
NM_000350.3(ABCA4):c.656G>C (p.Arg219Thr)	rs61748537	0.00002
NM_000350.3(ABCA4):c.6579C>T (p.Phe2193=)	rs763108716	0.00002
NM_000416.3(IFNGR1):c.260T>C (p.Ile87Thr)	rs104893973	0.00002
NM_000478.6(ALPL):c.657G>T (p.Met219Ile)	rs776117933	0.00002
NM_000554.6(CRX):c.268C>T (p.Arg90Trp)	rs104894673	0.00002
NM_001267550.2(TTN):c.7057+2dup	rs765019023	0.00002
NM_004415.4(DSP):c.4808G>A (p.Arg1603Lys)	rs869025393	0.00002
NM_004928.3(CFAP410):c.96+6T>A	rs758835278	0.00002
NM_005751.5(AKAP9):c.9112C>T (p.Arg3038Cys)	rs753467156	0.00002
NM_006269.2(RP1):c.515T>G (p.Leu172Arg)	rs180729424	0.00002
NM_006767.4(LZTR1):c.2463dup (p.Asp822fs)	rs781251567	0.00002
NM_014249.4(NR2E3):c.364C>T (p.Arg122Cys)	rs527236086	0.00002
NM_015072.5(TTLL5):c.2030G>A (p.Arg677Gln)	rs765491333	0.00002
NM_018474.6(KIZ):c.583C>T (p.Arg195Ter)	rs775124094	0.00002
NM_020366.4(RPGRIP1):c.1892A>G (p.His631Arg)	rs535922252	0.00002
NM_024649.5(BBS1):c.670G>A (p.Glu224Lys)	rs193922709	0.00002
NM_052813.5(CARD9):c.1341C>T (p.Thr447=)	rs774391206	0.00002
NM_053025.4(MYLK):c.2596G>A (p.Gly866Ser)	rs587782966	0.00002
NM_152419.3(HGSNAT):c.1250+1G>A	rs398124544	0.00002
NM_201253.3(CRB1):c.2129A>T (p.Glu710Val)	rs145282040	0.00002
NM_201253.3(CRB1):c.3988del (p.Glu1330fs)	rs1057520152	0.00002
NM_201253.3(CRB1):c.3991C>T (p.Arg1331Cys)	rs760544654	0.00002
NM_206933.4(USH2A):c.13847G>T (p.Gly4616Val)	rs527236124	0.00002
NM_206933.4(USH2A):c.15178T>C (p.Ser5060Pro)	rs752377040	0.00002
NM_206933.4(USH2A):c.2187C>A (p.Cys729Ter)	rs757154662	0.00002
NM_206933.4(USH2A):c.6118T>G (p.Cys2040Gly)	rs878853412	0.00002
NM_000090.4(COL3A1):c.2445+19A>G	rs776819930	0.00001
NM_000090.4(COL3A1):c.2689G>A (p.Gly897Ser)	rs794728054	0.00001
NM_000138.5(FBN1):c.2127A>C (p.Ala709=)	rs886038990	0.00001
NM_000138.5(FBN1):c.3020T>G (p.Leu1007Arg)	rs794728200	0.00001
NM_000138.5(FBN1):c.4460-8G>A	rs193922204	0.00001
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)	rs727503054	0.00001
NM_000180.4(GUCY2D):c.380C>T (p.Pro127Leu)	rs878853343	0.00001
NM_000188.3(HK1):c.2539G>A (p.Glu847Lys)	rs777849213	0.00001
NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser)	rs199473428	0.00001
NM_000256.3(MYBPC3):c.1227-13G>A	rs397515893	0.00001
NM_000256.3(MYBPC3):c.2490dup (p.His831fs)	rs397515966	0.00001
NM_000256.3(MYBPC3):c.821+1G>A	rs397516073	0.00001
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys)	rs121913625	0.00001
NM_000257.4(MYH7):c.1699C>T (p.Arg567Cys)	rs771771163	0.00001
NM_000257.4(MYH7):c.1750G>A (p.Gly584Ser)	rs121913626	0.00001
NM_000257.4(MYH7):c.2609G>A (p.Arg870His)	rs36211715	0.00001
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly)	rs397516161	0.00001
NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys)	rs727503246	0.00001
NM_000257.4(MYH7):c.4135G>A (p.Ala1379Thr)	rs397516202	0.00001
NM_000257.4(MYH7):c.4145G>A (p.Arg1382Gln)	rs727504325	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_000257.4(MYH7):c.4487A>C (p.Glu1496Ala)	rs397516218	0.00001
NM_000257.4(MYH7):c.4499G>A (p.Arg1500Gln)	rs121913647	0.00001
NM_000257.4(MYH7):c.709C>T (p.Arg237Trp)	rs45516091	0.00001
NM_000260.4(MYO7A):c.635G>A (p.Arg212His)	rs28934610	0.00001
NM_000283.4(PDE6B):c.1712C>T (p.Thr571Met)	rs761619791	0.00001
NM_000283.4(PDE6B):c.385G>A (p.Glu129Lys)	rs749657417	0.00001
NM_000297.4(PKD2):c.181C>T (p.Gln61Ter)	rs1355372474	0.00001
NM_000322.5(PRPH2):c.499G>A (p.Gly167Ser)	rs527236098	0.00001
NM_000322.5(PRPH2):c.659G>A (p.Arg220Gln)	rs61755810	0.00001
NM_000335.5(SCN5A):c.4129G>A (p.Val1377Met)	rs748312802	0.00001
NM_000335.5(SCN5A):c.4824G>A (p.Ser1608=)	rs886058460	0.00001
NM_000350.3(ABCA4):c.1253T>C (p.Phe418Ser)	rs794726979	0.00001
NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg)	rs61748558	0.00001
NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys)	rs61749420	0.00001
NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu)	rs62654397	0.00001
NM_000350.3(ABCA4):c.2291G>A (p.Cys764Tyr)	rs61749428	0.00001
NM_000350.3(ABCA4):c.2560G>A (p.Ala854Thr)	rs61749437	0.00001
NM_000350.3(ABCA4):c.3194G>A (p.Gly1065Asp)	rs886039300	0.00001
NM_000350.3(ABCA4):c.3329-1G>A	rs544428779	0.00001
NM_000350.3(ABCA4):c.3994C>T (p.Gln1332Ter)	rs61752428	0.00001
NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg)	rs61750135	0.00001
NM_000350.3(ABCA4):c.4253+5G>A	rs61750138	0.00001
NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg)	rs61750146	0.00001
NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp)	rs61750155	0.00001
NM_000350.3(ABCA4):c.4849-1G>A	rs61750156	0.00001
NM_000350.3(ABCA4):c.4926C>G (p.Ser1642Arg)	rs61753017	0.00001
NM_000350.3(ABCA4):c.5929G>A (p.Gly1977Ser)	rs61750639	0.00001
NM_000350.3(ABCA4):c.6342G>A (p.Val2114=)	rs61748520	0.00001
NM_000350.3(ABCA4):c.6391G>A (p.Glu2131Lys)	rs61750652	0.00001
NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter)	rs61750654	0.00001
NM_000350.3(ABCA4):c.868C>T (p.Arg290Trp)	rs781716640	0.00001
NM_000363.5(TNNI3):c.294A>G (p.Arg98=)	rs1568858567	0.00001
NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp)	rs104894724	0.00001
NM_000393.5(COL5A2):c.2104G>A (p.Gly702Arg)	rs772811492	0.00001
NM_000440.3(PDE6A):c.1407+1G>C	rs781616522	0.00001
NM_000478.6(ALPL):c.1166C>A (p.Thr389Asn)	rs746390776	0.00001
NM_000478.6(ALPL):c.550C>T (p.Arg184Trp)	rs763159520	0.00001
NM_000501.4(ELN):c.1622-6C>T	rs1280128851	0.00001
NM_000527.4(LDLR):c.313+1G>A	rs112029328	0.00001
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)	rs28942079	0.00001
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)	rs121908031	0.00001
NM_000539.3(RHO):c.551A>G (p.Gln184Arg)	rs1402468701	0.00001
NM_000554.6(CRX):c.118C>T (p.Arg40Trp)	rs749738655	0.00001
NM_000554.6(CRX):c.121C>T (p.Arg41Trp)	rs104894672	0.00001
NM_000554.6(CRX):c.122G>A (p.Arg41Gln)	rs61748436	0.00001
NM_000554.6(CRX):c.205C>T (p.Arg69Cys)	rs771551785	0.00001
NM_001005242.3(PKP2):c.1162C>T (p.Arg388Trp)	rs766209297	0.00001
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser)	rs199476100	0.00001
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys)	rs1057518897	0.00001
NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu)	rs730881151	0.00001
NM_001018005.2(TPM1):c.82G>C (p.Asp28His)	rs397516391	0.00001
NM_001035.3(RYR2):c.3271G>A (p.Glu1091Lys)	rs730880191	0.00001
NM_001035.3(RYR2):c.365G>A (p.Arg122His)	rs727503396	0.00001
NM_001035.3(RYR2):c.9352G>A (p.Gly3118Arg)	rs730880194	0.00001
NM_001099274.3(TINF2):c.81C>A (p.Cys27Ter)	rs1060499576	0.00001
NM_001142800.2(EYS):c.2826_2827del (p.Val944fs)	rs878853349	0.00001
NM_001142800.2(EYS):c.8206G>C (p.Ala2736Pro)	rs1250317776	0.00001
NM_001267550.2(TTN):c.48283C>T (p.Arg16095Ter)	rs374140736	0.00001
NM_001267550.2(TTN):c.59201_59202del (p.Pro19734fs)	rs752948913	0.00001
NM_001267550.2(TTN):c.85090C>T (p.Arg28364Ter)	rs770038577	0.00001
NM_001276345.2(TNNT2):c.764C>T (p.Ala255Val)	rs369181536	0.00001
NM_001377.3(DYNC2H1):c.244C>T (p.Arg82Ter)	rs1249901214	0.00001
NM_001377.3(DYNC2H1):c.6613C>T (p.Arg2205Cys)	rs750689118	0.00001
NM_001377.3(DYNC2H1):c.6614G>A (p.Arg2205His)	rs137853031	0.00001
NM_001458.5(FLNC):c.3476G>A (p.Arg1159Gln)	rs141199483	0.00001
NM_001458.5(FLNC):c.4109G>A (p.Arg1370Gln)	rs761881020	0.00001
NM_001613.4(ACTA2):c.115C>T (p.Arg39Cys)	rs112901682	0.00001
NM_001844.5(COL2A1):c.3215C>T (p.Pro1072Leu)	rs1489240592	0.00001
NM_002834.5(PTPN11):c.166A>G (p.Ile56Val)	rs397507504	0.00001
NM_003361.4(UMOD):c.317G>T (p.Cys106Phe)	rs398123697	0.00001
NM_003995.4(NPR2):c.2327G>A (p.Arg776Gln)	rs780293535	0.00001
NM_004183.4(BEST1):c.286C>G (p.Gln96Glu)	rs980876322	0.00001
NM_005633.4(SOS1):c.1654A>T (p.Arg552Trp)	rs137852814	0.00001
NM_006231.4(POLE):c.3373C>T (p.Arg1125Ter)	rs139603739	0.00001
NM_014249.4(NR2E3):c.311G>A (p.Arg104Gln)	rs766096417	0.00001
NM_014714.4(IFT140):c.634+5G>A	rs1323647622	0.00001
NM_014780.5(CUL7):c.1392G>A (p.Trp464Ter)	rs1764272092	0.00001
NM_020366.4(RPGRIP1):c.2465_2468dup (p.Ala824fs)	rs745741473	0.00001
NM_020366.4(RPGRIP1):c.2554C>T (p.Arg852Ter)	rs1429786931	0.00001
NM_020778.5(ALPK3):c.4234C>T (p.Arg1412Ter)	rs1431206462	0.00001
NM_021813.4(BACH2):c.955A>G (p.Thr319Ala)	rs754815178	0.00001
NM_022124.6(CDH23):c.2398-1G>T	rs751788879	0.00001
NM_022124.6(CDH23):c.9094G>A (p.Asp3032Asn)	rs368603948	0.00001
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro)	rs121917778	0.00001
NM_080680.3(COL11A2):c.3958C>T (p.Arg1320Ter)	rs1206475365	0.00001
NM_138694.4(PKHD1):c.2864T>G (p.Phe955Cys)	rs777158800	0.00001
NM_138694.4(PKHD1):c.7717C>T (p.Arg2573Cys)	rs752994816	0.00001
NM_152443.3(RDH12):c.377C>T (p.Ala126Val)	rs202126574	0.00001
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp)	rs386134243	0.00001
NM_170707.4(LMNA):c.448A>G (p.Thr150Ala)	rs58917027	0.00001
NM_178857.6(RP1L1):c.1972C>T (p.Arg658Ter)	rs527236107	0.00001
NM_201253.3(CRB1):c.1576C>T (p.Arg526Ter)	rs114342808	0.00001
NM_201253.3(CRB1):c.2300T>C (p.Leu767Pro)	rs1451348539	0.00001
NM_201253.3(CRB1):c.2833G>A (p.Gly945Arg)	rs749746650	0.00001
NM_201253.3(CRB1):c.3320T>C (p.Leu1107Pro)	rs62636276	0.00001
NM_201253.3(CRB1):c.3997G>A (p.Glu1333Lys)	rs137853136	0.00001
NM_201253.3(CRB1):c.4006-10A>G	rs766850702	0.00001
NM_201253.3(CRB1):c.653-1G>T	rs760287363	0.00001
NM_201548.5(CERKL):c.967_968del (p.Met323fs)	rs750151209	0.00001
NM_206933.4(USH2A):c.1001G>A (p.Arg334Gln)	rs758303489	0.00001
NM_206933.4(USH2A):c.11954G>A (p.Trp3985Ter)	rs397517976	0.00001
NM_206933.4(USH2A):c.12874A>G (p.Asn4292Asp)	rs397517984	0.00001
NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile)	rs753330544	0.00001
NM_206933.4(USH2A):c.1724G>A (p.Cys575Tyr)	rs483353054	0.00001
NM_206933.4(USH2A):c.4133T>C (p.Leu1378Pro)	rs2034852728	0.00001
NM_206933.4(USH2A):c.5438_5443del (p.Ser1813_Ser1815delinsCys)	rs752992414	0.00001
NM_206933.4(USH2A):c.653T>A (p.Val218Glu)	rs397518026	0.00001
NM_206933.4(USH2A):c.9258+1G>A	rs748810737	0.00001
NM_206933.4(USH2A):c.9433C>T (p.Leu3145Phe)	rs267598373	0.00001
NC_000011.10:g.47347670del	rs727503212
NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln)	rs121909284
NM_000039.3(APOA1):c.388AAG[1] (p.Lys131del)	rs532489785
NM_000051.4(ATM):c.331+1G>A	rs1555055356
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer)	rs587781831
NM_000063.6(C2):c.1482_1483delinsC (p.Ala495fs)	rs1582119130
NM_000063.6(C2):c.841_849+19del	rs9332736
NM_000088.4(COL1A1):c.1777G>A (p.Gly593Ser)	rs66527965
NM_000088.4(COL1A1):c.3300C>T (p.Gly1100=)	rs1349721736
NM_000088.4(COL1A1):c.3647A>G (p.Tyr1216Cys)	rs1555571849
NM_000088.4(COL1A1):c.3806G>A (p.Trp1269Ter)	rs72656341
NM_000090.4(COL3A1):c.1232G>A (p.Gly411Glu)	rs886038816
NM_000090.4(COL3A1):c.1977+5G>A	rs1553508544
NM_000090.4(COL3A1):c.2123G>T (p.Gly708Val)	rs111929073
NM_000090.4(COL3A1):c.3212G>T (p.Gly1071Val)	rs587779709
NM_000093.5(COL5A1):c.4020A>G (p.Pro1340=)	rs776564144
NM_000095.3(COMP):c.1153G>A (p.Asp385Asn)	rs1601054715
NM_000095.3(COMP):c.1393G>A (p.Gly465Ser)	rs2145900853
NM_000095.3(COMP):c.1563G>A (p.Pro521=)	rs756075225
NM_000095.3(COMP):c.2152C>T (p.Arg718Trp)	rs28936368
NM_000138.5(FBN1):c.1285C>T (p.Arg429Ter)	rs112645512
NM_000138.5(FBN1):c.1379G>A (p.Cys460Tyr)	rs1597581001
NM_000138.5(FBN1):c.1468+5G>A	rs397515757
NM_000138.5(FBN1):c.1496G>A (p.Cys499Tyr)	rs587782944
NM_000138.5(FBN1):c.1633C>T (p.Arg545Cys)	rs730880099
NM_000138.5(FBN1):c.2539+10T>A	rs878853679
NM_000138.5(FBN1):c.3656A>G (p.Tyr1219Cys)	rs1555398394
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn)	rs794728208
NM_000138.5(FBN1):c.4210+1G>A	rs730880106
NM_000138.5(FBN1):c.4330T>A (p.Cys1444Ser)	rs869025406
NM_000138.5(FBN1):c.4337-1G>T	rs1555397424
NM_000138.5(FBN1):c.4526A>G (p.Tyr1509Cys)	rs730880102
NM_000138.5(FBN1):c.4925A>G (p.Asp1642Gly)	rs1597546984
NM_000138.5(FBN1):c.4935G>A (p.Val1645=)	rs886038897
NM_000138.5(FBN1):c.5015G>A (p.Cys1672Tyr)	rs140627
NM_000138.5(FBN1):c.5369G>A (p.Arg1790Gln)	rs1555396428
NM_000138.5(FBN1):c.5626T>C (p.Cys1876Arg)	rs1555395980
NM_000138.5(FBN1):c.6617A>G (p.Asp2206Gly)	rs1597522584
NM_000138.5(FBN1):c.7141C>T (p.Gln2381Ter)	rs869025414
NM_000138.5(FBN1):c.7151_7152del (p.Val2384fs)	rs869025423
NM_000138.5(FBN1):c.7330+3_7330+6del	rs1597516325
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg)	rs363811
NM_000138.5(FBN1):c.7726C>T (p.Arg2576Cys)	rs147195031
NM_000138.5(FBN1):c.8148C>G (p.Tyr2716Ter)	rs112642323
NM_000142.5(FGFR3):c.2005C>G (p.Arg669Gly)	rs1490564667
NM_000142.5(FGFR3):c.667C>T (p.Arg223Cys)	rs1721198491
NM_000142.5(FGFR3):c.983A>T (p.Asn328Ile)	rs587778817
NM_000169.3(GLA):c.1229C>T (p.Thr410Ile)	rs730880442
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His)	rs61750173
NM_000215.4(JAK3):c.2773C>A (p.Arg925Ser)	rs149452625
NM_000238.4(KCNH2):c.1801G>A (p.Gly601Ser)	rs199472936
NM_000238.4(KCNH2):c.2692+8G>A	rs200032281
NM_000238.4(KCNH2):c.77-5C>T	rs72549419
NM_000256.3(MYBPC3):c.1223+1G>A	rs730880639
NM_000256.3(MYBPC3):c.1224-19G>A	rs587776699
NM_000256.3(MYBPC3):c.1622dup (p.Glu542fs)	rs1555122143
NM_000256.3(MYBPC3):c.1897+1G>A	rs397515935
NM_000256.3(MYBPC3):c.2526del (p.Val841_Tyr842insTer)	rs1595843640
NM_000256.3(MYBPC3):c.2905+1G>A	rs397515991
NM_000256.3(MYBPC3):c.290C>T (p.Ala97Val)	rs397515993
NM_000256.3(MYBPC3):c.3297dup (p.Tyr1100fs)	rs397516014
NM_000256.3(MYBPC3):c.3732C>A (p.Cys1244Ter)	rs730880600
NM_000256.3(MYBPC3):c.3746G>T (p.Gly1249Val)	rs727504259
NM_000256.3(MYBPC3):c.3773T>G (p.Leu1258Ter)	rs730880604
NM_000256.3(MYBPC3):c.821+5G>A	rs397516077
NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys)	rs606231324
NM_000257.4(MYH7):c.2163G>T (p.Arg721Ser)	rs730880734
NM_000257.4(MYH7):c.2207T>C (p.Ile736Thr)	rs727503261
NM_000257.4(MYH7):c.2539_2541del (p.Lys847del)	rs397516155
NM_000257.4(MYH7):c.2678C>A (p.Ala893Glu)	rs727503254
NM_000257.4(MYH7):c.2711G>A (p.Arg904His)	rs397516165
NM_000257.4(MYH7):c.532G>A (p.Gly178Arg)	rs730880156
NM_000257.4(MYH7):c.5395G>A (p.Glu1799Lys)	rs730880816
NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys)	rs397516248
NM_000257.4(MYH7):c.611G>T (p.Arg204Leu)	rs397516260
NM_000257.4(MYH7):c.652G>T (p.Asp218Tyr)	rs1595089520
NM_000257.4(MYH7):c.707T>C (p.Val236Ala)	rs397516262
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln)	rs3218713
NM_000274.4(OAT):c.1014+1G>A	rs1951414426
NM_000283.4(PDE6B):c.2429T>C (p.Leu810Pro)	rs1737988951
NM_000297.4(PKD2):c.1349G>A (p.Gly450Asp)	rs1578135842
NM_000297.4(PKD2):c.2600T>C (p.Leu867Pro)	rs1578153598
NM_000297.4(PKD2):c.717C>A (p.Tyr239Ter)	rs780351760
NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln)	rs61755793
NM_000322.5(PRPH2):c.581+1G>A	rs1761904690
NM_000322.5(PRPH2):c.658C>T (p.Arg220Trp)	rs61755809
NM_000322.5(PRPH2):c.708C>G (p.Tyr236Ter)	rs61755813
NM_000322.5(PRPH2):c.808CTC[1] (p.Leu271del)	rs1582764519
NM_000330.4(RS1):c.176G>A (p.Cys59Tyr)	rs1928220547
NM_000330.4(RS1):c.337C>T (p.Leu113Phe)	rs61752145
NM_000330.4(RS1):c.655T>C (p.Cys219Arg)	rs281865369
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp)	rs36210423
NM_000335.5(SCN5A):c.4471AAG[1] (p.Lys1492del)	rs869025522
NM_000335.5(SCN5A):c.4978G>A (p.Gly1660Arg)	rs199473292
NM_000350.3(ABCA4):c.108del (p.Leu37fs)	rs62642569
NM_000350.3(ABCA4):c.1496G>A (p.Trp499Ter)	rs1661575232
NM_000350.3(ABCA4):c.1807T>C (p.Tyr603His)	rs1064793006
NM_000350.3(ABCA4):c.194G>A (p.Gly65Glu)	rs62654395
NM_000350.3(ABCA4):c.2570T>C (p.Leu857Pro)	rs768435443
NM_000350.3(ABCA4):c.2626C>T (p.Gln876Ter)	rs1660843703
NM_000350.3(ABCA4):c.2791G>T (p.Val931Leu)	rs58331765
NM_000350.3(ABCA4):c.2915C>A (p.Thr972Asn)	rs61749451
NM_000350.3(ABCA4):c.2948C>T (p.Thr983Ile)	rs61752411
NM_000350.3(ABCA4):c.3017G>A (p.Gly1006Asp)	rs1660620340
NM_000350.3(ABCA4):c.302+4A>C	rs1662599697
NM_000350.3(ABCA4):c.3261A>C (p.Glu1087Asp)	rs61752416
NM_000350.3(ABCA4):c.4611G>A (p.Thr1537=)	rs138475920
NM_000350.3(ABCA4):c.5175dup (p.Thr1726fs)	rs1057518955
NM_000350.3(ABCA4):c.5189G>A (p.Trp1730Ter)	rs886044747
NM_000350.3(ABCA4):c.6005+1G>T	rs61748517
NM_000350.3(ABCA4):c.6095A>G (p.His2032Arg)	rs1242866408
NM_000350.3(ABCA4):c.6191C>T (p.Ala2064Val)	rs1362964563
NM_000350.3(ABCA4):c.6229C>T (p.Arg2077Trp)	rs61750645
NM_000350.3(ABCA4):c.6386+1G>A	rs745654673
NM_000350.3(ABCA4):c.67-2A>G	rs398123339
NM_000350.3(ABCA4):c.911_937del (p.Met304_Phe312del)	rs1440228037
NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del)	rs541497967
NM_000390.4(CHM):c.653C>G (p.Ser218Ter)	rs1930414140
NM_000432.4(MYL2):c.64G>A (p.Glu22Lys)	rs104894368
NM_000440.3(PDE6A):c.1689C>A (p.His563Gln)	rs776918069
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser)	rs141252097
NM_000448.3(RAG1):c.1210C>T (p.Arg404Trp)	rs764981110
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)	rs113993960
NM_000493.4(COL10A1):c.1823del (p.Thr608fs)	rs2114278254
NM_000516.7(GNAS):c.349G>A (p.Val117Met)	rs1555889031
NM_000527.5(LDLR):c.1186+1G>T	rs730880131
NM_000527.5(LDLR):c.1468T>C (p.Trp490Arg)	rs730880130
NM_000527.5(LDLR):c.1478_1479del (p.Ser493fs)	rs869025453
NM_000527.5(LDLR):c.1486_1487del (p.Gly496fs)	rs869025454
NM_000536.4(RAG2):c.1247G>T (p.Trp416Leu)	rs193922572
NM_000539.3(RHO):c.173C>G (p.Thr58Arg)	rs28933394
NM_000539.3(RHO):c.541G>A (p.Glu181Lys)	rs775557680
NM_000539.3(RHO):c.647T>A (p.Met216Lys)	rs984572250
NM_000539.3(RHO):c.762CAT[2] (p.Ile256del)	rs1553781360
NM_000587.4(C7):c.1561C>A (p.Arg521Ser)	rs121964920
NM_000719.7(CACNA1C):c.2542GAG[2] (p.Glu850del)	rs575583988
NM_000719.7(CACNA1C):c.2570C>T (p.Pro857Leu)	rs750835733
NM_000883.4(IMPDH1):c.967A>G (p.Lys323Glu)	rs1562989913
NM_001005242.3(PKP2):c.1079T>C (p.Leu360Pro)	rs730880180
NM_001005242.3(PKP2):c.1378+1G>C	rs397516994
NM_001009944.3(PKD1):c.11249G>A (p.Arg3750Gln)	rs1327414405
NM_001009944.3(PKD1):c.12003+14_12003+33del	rs1567148835
NM_001009944.3(PKD1):c.1202-9G>A	rs1596588606
NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter)	rs755496450
NM_001009944.3(PKD1):c.1295C>T (p.Ala432Val)	rs1060499699
NM_001009944.3(PKD1):c.1591G>A (p.Glu531Lys)	rs1567215326
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)	rs1616940
NM_001009944.3(PKD1):c.3955G>A (p.Gly1319Arg)	rs747362311
NM_001009944.3(PKD1):c.412C>T (p.Arg138Ter)	rs1596591955
NM_001009944.3(PKD1):c.4551C>A (p.Tyr1517Ter)	rs1238351274
NM_001009944.3(PKD1):c.6752_6754del (p.Val2251del)	rs1596550396
NM_001009944.3(PKD1):c.7984C>T (p.Gln2662Ter)	rs757768731
NM_001009944.3(PKD1):c.8284_8295del (p.Ile2762_Arg2765del)	rs1596527370
NM_001009944.3(PKD1):c.8973C>A (p.Tyr2991Ter)	rs1596522636
NM_001009944.3(PKD1):c.974A>G (p.Tyr325Cys)	rs1232180956
NM_001018005.2(TPM1):c.160G>A (p.Glu54Lys)	rs104894505
NM_001018005.2(TPM1):c.515T>C (p.Ile172Thr)	rs199476312
NM_001034853.2(RPGR):c.154G>A (p.Gly52Arg)	rs281865296
NM_001034853.2(RPGR):c.1754-2dup	rs2067203496
NM_001034853.2(RPGR):c.2106G>A (p.Trp702Ter)	rs2067193056
NM_001034853.2(RPGR):c.2234_2237del (p.Arg745fs)	rs1555961852
NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs)	rs1555961852
NM_001034853.2(RPGR):c.2384del (p.Glu795fs)	rs1569237206
NM_001034853.2(RPGR):c.2403_2406del (p.Glu802fs)	rs2067183162
NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs)	rs398122960
NM_001034853.2(RPGR):c.2409del (p.Arg804fs)	rs2067182990
NM_001034853.2(RPGR):c.2426_2427del (p.Glu809fs)	rs730882261
NM_001034853.2(RPGR):c.2442_2445del (p.Gly817fs)	rs1569237077
NM_001034853.2(RPGR):c.247+5G>A	rs2067974156
NM_001034853.2(RPGR):c.2501del (p.Glu834fs)	rs2067178120
NM_001034853.2(RPGR):c.2587del (p.Glu863fs)	rs2067170858
NM_001034853.2(RPGR):c.2867del (p.Glu956fs)	rs2067146007
NM_001034853.2(RPGR):c.2971del (p.Glu991fs)	rs2067134254
NM_001034853.2(RPGR):c.3104_3105del (p.Glu1035fs)	rs1601917999
NM_001034853.2(RPGR):c.379A>G (p.Arg127Gly)	rs62638643
NM_001035.3(RYR2):c.12325A>G (p.Met4109Val)	rs730880196
NM_001035.3(RYR2):c.13528G>A (p.Ala4510Thr)	rs397516510
NM_001035.3(RYR2):c.13957G>T (p.Val4653Phe)	rs121918604
NM_001035.3(RYR2):c.7202G>A (p.Arg2401His)	rs794728756
NM_001040142.2(SCN2A):c.5317G>A (p.Ala1773Thr)	rs796053162
NM_001042492.3(NF1):c.1019_1020del (p.Ser340fs)	rs1555610903
NM_001042492.3(NF1):c.281T>G (p.Leu94Arg)	rs1597629884
NM_001042492.3(NF1):c.5516del (p.Ile1839fs)	rs1597832304
NM_001101.5(ACTB):c.575T>A (p.Ile192Asn)	rs1584262037
NM_001104631.2(PDE4D):c.1762A>G (p.Met588Val)	rs1554033934
NM_001110556.2(FLNA):c.676C>T (p.Arg226Ter)	rs1569551861
NM_001110792.2(MECP2):c.2T>C (p.Met1Thr)	rs2066907057
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)	rs28934906
NM_001114753.3(ENG):c.259C>T (p.Gln87Ter)	rs730880096
NM_001122769.3(LCA5):c.633_639del (p.Glu211fs)	rs878853382
NM_001134363.3(RBM20):c.1906C>A (p.Arg636Ser)	rs267607002
NM_001142800.2(EYS):c.6137G>A (p.Trp2046Ter)	rs878853350
NM_001142800.2(EYS):c.6191+2T>C	rs1769469813
NM_001142800.2(EYS):c.7392dup (p.Thr2465fs)	rs1770904723
NM_001142800.2(EYS):c.9186_9187del (p.Asn3062fs)	rs886044149
NM_001148.6(ANK2):c.11198_11200del (p.Gly3733del)	rs730880049
NM_001165963.4(SCN1A):c.2791C>T (p.Arg931Cys)	rs121918788
NM_001195553.2(DCX):c.808+1G>A	rs1921403332
NM_001200.4(BMP2):c.460C>T (p.Arg154Ter)	rs1057523275
NM_001204.7(BMPR2):c.1276G>C (p.Gly426Arg)	rs869025367
NM_001232.4(CASQ2):c.546del (p.Phe182fs)	rs763955301
NM_001267550.2(TTN):c.103360del (p.Glu34454fs)	rs760768093
NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del)	rs573843615
NM_001267550.2(TTN):c.40408+8del	rs727504922
NM_001267550.2(TTN):c.57331C>T (p.Arg19111Ter)	rs72646831
NM_001267550.2(TTN):c.57769C>T (p.Arg19257Ter)	rs794729275
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter)	rs397517689
NM_001267550.2(TTN):c.75250C>T (p.Arg25084Ter)	rs794729286
NM_001267550.2(TTN):c.76373del (p.Pro25458fs)	rs869025553
NM_001267550.2(TTN):c.89900_89903del (p.Asn29967fs)	rs869312081
NM_001267550.2(TTN):c.91715dup (p.Asn30572fs)	rs779129892
NM_001267550.2(TTN):c.9577C>T (p.Arg3193Ter)	rs746115846
NM_001267550.2(TTN):c.97492+1G>C	rs727505319
NM_001270974.2(HYDIN):c.212G>A (p.Arg71Gln)	rs529769407
NM_001276345.2(TNNT2):c.268C>T (p.Pro90Ser)	rs397516451
NM_001276345.2(TNNT2):c.321G>T (p.Lys107Asn)	rs397516459
NM_001276345.2(TNNT2):c.446G>A (p.Arg149His)	rs397516466
NM_001276345.2(TNNT2):c.508GAG[3] (p.Glu173del)	rs397516470
NM_001278431.2(C1QTNF5):c.489C>A (p.Ser163Arg)	rs111033578
NM_001282225.2(ADA2):c.144dup (p.Arg49fs)	rs756881285
NM_001297.5(CNGB1):c.1958-1G>A	rs888090139
NM_001297.5(CNGB1):c.2088C>G (p.Tyr696Ter)	rs1210263161
NM_001297.5(CNGB1):c.2544dup (p.Leu849fs)	rs760430056
NM_001297.5(CNGB1):c.3131_3149del (p.Ala1044fs)	rs1365926616
NM_001371596.2(MFSD8):c.881C>A (p.Thr294Lys)	rs140948465
NM_001395891.1(CLASP1):c.196-570C>T	rs750325275
NM_001457.4(FLNB):c.502G>A (p.Gly168Ser)	rs80356504
NM_001458.5(FLNC):c.4021C>T (p.Arg1341Ter)	rs1562998062
NM_001563.4(IMPG1):c.1016C>A (p.Thr339Asn)	rs112474181
NM_001613.4(ACTA2):c.116G>A (p.Arg39His)	rs794728021
NM_001613.4(ACTA2):c.215C>T (p.Pro72Leu)	rs1060500134
NM_001613.4(ACTA2):c.419C>T (p.Ala140Val)	rs397516683
NM_001613.4(ACTA2):c.635G>A (p.Arg212Gln)	rs397516685
NM_001613.4(ACTA2):c.720G>C (p.Lys240Asn)	rs727502878
NM_001770.6(CD19):c.1303+1G>C	rs372929312
NM_001844.5(COL2A1):c.1331G>T (p.Gly444Val)	rs1939463507
NM_001844.5(COL2A1):c.1861G>A (p.Gly621Arg)	rs794727462
NM_001844.5(COL2A1):c.2276G>T (p.Gly759Val)	rs2136548974
NM_001844.5(COL2A1):c.2491G>A (p.Gly831Arg)	rs1064796660
NM_001844.5(COL2A1):c.2536G>A (p.Gly846Arg)	rs886042043
NM_001844.5(COL2A1):c.2714T>C (p.Val905Ala)	rs1271505111
NM_001844.5(COL2A1):c.3263GAG[1] (p.Gly1089del)	rs2136521036
NM_001844.5(COL2A1):c.3508G>C (p.Gly1170Arg)	rs121912891
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser)	rs121912870
NM_001854.4(COL11A1):c.1201T>C (p.Phe401Leu)	rs141817156
NM_001927.4(DES):c.735G>A (p.Glu245=)	rs267607486
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile)	rs147157552
NM_002474.3(MYH11):c.2135G>A (p.Arg712Gln)	rs267606902
NM_002474.3(MYH11):c.3757AAG[3] (p.Lys1256del)	rs730880147
NM_002474.3(MYH11):c.5336C>T (p.Thr1779Met)	rs201960644
NM_002734.5(PRKAR1A):c.1102C>T (p.Arg368Ter)	rs387906692
NM_002834.5(PTPN11):c.1472C>A (p.Pro491His)	rs397507540
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser)	rs397507527
NM_002834.5(PTPN11):c.853T>A (p.Phe285Ile)	rs397507531
NM_002880.4(RAF1):c.1172G>T (p.Arg391Met)	rs587782972
NM_002880.4(RAF1):c.524A>G (p.His175Arg)	rs397516822
NM_002880.4(RAF1):c.788T>G (p.Val263Gly)	rs397516830
NM_003036.4(SKI):c.352G>A (p.Glu118Lys)	rs869025525
NM_003238.6(TGFB2):c.821dup (p.Asn274fs)	rs863223796
NM_003239.5(TGFB3):c.898C>T (p.Arg300Trp)	rs796051885
NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter)	rs104893819
NM_003322.6(TULP1):c.1047T>G (p.Asn349Lys)	rs763272975
NM_003322.6(TULP1):c.1318C>T (p.Arg440Ter)	rs751589956
NM_003322.6(TULP1):c.1471T>C (p.Phe491Leu)	rs121909074
NM_003998.4(NFKB1):c.904dup (p.Ser302fs)	rs773694113
NM_004183.4(BEST1):c.693T>G (p.Ser231Arg)	rs281865244
NM_004333.6(BRAF):c.2135C>A (p.Ala712Asp)	rs727502904
NM_004333.6(BRAF):c.721A>C (p.Thr241Pro)	rs387906661
NM_004415.4(DSP):c.5851C>T (p.Arg1951Ter)	rs869025395
NM_004612.4(TGFBR1):c.707C>T (p.Ser236Phe)	rs863223812
NM_004612.4(TGFBR1):c.935G>A (p.Gly312Asp)	rs869025535
NM_004621.6(TRPC6):c.523C>T (p.Arg175Trp)	rs869025541
NM_004727.3(SLC24A1):c.1132_1133del (p.Ser378fs)	rs1566947860
NM_004974.4(KCNA2):c.1214C>T (p.Pro405Leu)	rs876657389
NM_004974.4(KCNA2):c.298C>T (p.Arg100Ter)	rs1649509389
NM_004985.5(KRAS):c.108A>G (p.Ile36Met)	rs727503109
NM_005026.5(PIK3CD):c.1574A>G (p.Glu525Gly)	rs1557669079
NM_005188.4(CBL):c.2107C>G (p.Pro703Ala)	rs1229733932
NM_005214.5(CTLA4):c.118G>A (p.Val40Met)	rs1553657378
NM_005214.5(CTLA4):c.457G>A (p.Asp153Asn)	rs1581573970
NM_005419.4(STAT2):c.1466C>T (p.Pro489Leu)	rs138681270
NM_005633.4(SOS1):c.1310T>C (p.Ile437Thr)	rs397517150
NM_005633.4(SOS1):c.1433C>G (p.Pro478Arg)	rs1553356111
NM_005751.5(AKAP9):c.8345C>T (p.Thr2782Ile)	rs543634397
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys)	rs137853006
NM_006182.4(DDR2):c.243T>A (p.Asp81Glu)	rs138537887
NM_006269.2(RP1):c.2374A>T (p.Lys792Ter)	rs1365908727
NM_006269.2(RP1):c.2613dup (p.Arg872fs)	rs1449723475
NM_006269.2(RP1):c.3319C>G (p.Gln1107Glu)	rs939932729
NM_006445.4(PRPF8):c.5804G>A (p.Arg1935His)	rs1555550617
NM_006445.4(PRPF8):c.6901C>T (p.Pro2301Ser)	rs121434239
NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys)	rs747430075
NM_006767.4(LZTR1):c.406T>C (p.Tyr136His)	rs1601717299
NM_006767.4(LZTR1):c.730T>C (p.Ser244Pro)	rs1601718760
NM_006915.3(RP2):c.352C>T (p.Arg118Cys)	rs1556318633
NM_006915.3(RP2):c.353G>A (p.Arg118His)	rs28933687
NM_006915.3(RP2):c.566T>C (p.Leu189Pro)	rs1924908706
NM_006915.3(RP2):c.768G>C (p.Glu256Asp)	rs1227276668
NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser)	rs61736587
NM_007317.3(KIF22):c.446G>T (p.Arg149Leu)	rs193922922
NM_012469.4(PRPF6):c.514C>T (p.Arg172Trp)	rs369787039
NM_014014.5(SNRNP200):c.2042G>A (p.Arg681His)	rs527236113
NM_014014.5(SNRNP200):c.2044C>T (p.Pro682Ser)	rs2063893838
NM_014014.5(SNRNP200):c.3260C>T (p.Ser1087Leu)	rs267607077
NM_014249.4(NR2E3):c.289C>T (p.Arg97Cys)	rs775720634
NM_014249.4(NR2E3):c.767C>A (p.Ala256Glu)	rs377257254
NM_014714.4(IFT140):c.2767_2768+2del	rs769075694
NM_014714.4(IFT140):c.4208GGC[4] (p.Arg1405dup)	rs754312950
NM_015311.3(OBSL1):c.35dup (p.Cys13fs)	rs752401295
NM_015311.3(OBSL1):c.4951G>T (p.Glu1651Ter)	rs140825693
NM_015629.4(PRPF31):c.573C>A (p.Cys191Ter)	rs764232082
NM_015629.4(PRPF31):c.895T>C (p.Cys299Arg)	rs2073926924
NM_016247.4(IMPG2):c.1263G>A (p.Trp421Ter)	rs1706474422
NM_016247.4(IMPG2):c.1578_1581del (p.Ser527fs)	rs1559643320
NM_016247.4(IMPG2):c.2440C>T (p.Gln814Ter)	rs1706439944
NM_016247.4(IMPG2):c.727G>C (p.Ala243Pro)	rs1706811719
NM_017617.5(NOTCH1):c.1342C>T (p.Arg448Ter)	rs869025494
NM_017617.5(NOTCH1):c.3172-5C>T	rs762077987
NM_020366.4(RPGRIP1):c.2441del (p.Arg814fs)	rs1739469293
NM_020366.4(RPGRIP1):c.2718dup (p.Asn907Ter)	rs776289402
NM_020366.4(RPGRIP1):c.3618-1_3621del	rs1594280740
NM_020366.4(RPGRIP1):c.673del (p.His225fs)	rs752263228
NM_020778.4(ALPK3):c.436_440dup5	rs527847958
NM_020778.5(ALPK3):c.3580dup (p.Arg1194fs)	rs777315336
NM_020778.5(ALPK3):c.3640_3643dup (p.Pro1215fs)	rs756970868
NM_022436.3(ABCG5):c.978del (p.Glu326fs)	rs869025350
NM_024570.4(RNASEH2B):c.554T>G (p.Val185Gly)	rs74555752
NM_025114.4(CEP290):c.2052+1_2052+2del	rs747835249
NM_030662.4(MAP2K2):c.619G>A (p.Glu207Lys)	rs727504382
NM_032193.4(RNASEH2C):c.247G>A (p.Val83Met)	rs772757667
NM_032588.4(TRIM63):c.739C>T (p.Gln247Ter)	rs148395034
NM_033028.5(BBS4):c.1107-10_1107-7del	rs770577174
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs)	rs794727197
NM_033360.4(KRAS):c.189G>C (p.Glu63Asp)	rs1592808357
NM_033360.4(KRAS):c.189G>T (p.Glu63Asp)	rs1592808357
NM_033360.4(KRAS):c.439A>G (p.Lys147Glu)	rs387907206
NM_078480.3(PUF60):c.1471G>A (p.Gly491Arg)	rs1816336903
NM_078480.3(PUF60):c.1489ATC[1] (p.Ile498del)	rs1064794916
NM_138694.4(PKHD1):c.10058T>G (p.Leu3353Arg)	rs777377414
NM_138694.4(PKHD1):c.3122G>A (p.Gly1041Asp)	rs794727466
NM_138694.4(PKHD1):c.3940del (p.Ser1314fs)	rs1057517273
NM_138694.4(PKHD1):c.4330C>T (p.Gln1444Ter)	rs1581808463
NM_138694.4(PKHD1):c.85G>T (p.Glu29Ter)	rs398124498
NM_153240.5(NPHP3):c.406del (p.Thr136fs)	rs1379989124
NM_153240.5(NPHP3):c.974T>C (p.Leu325Pro)	rs1560014265
NM_153240.5(NPHP3):c.985T>C (p.Cys329Arg)	rs766285779
NM_174878.3(CLRN1):c.502dup (p.Ile168fs)	rs746523071
NM_182972.3(IRF2BP2):c.352C>G (p.Pro118Ala)	rs148187914
NM_198334.3(GANAB):c.253-4G>T	rs202154028
NM_201253.3(CRB1):c.1183G>T (p.Glu395Ter)	rs369775002
NM_201253.3(CRB1):c.2365_2367del (p.Asn789del)	rs1433518605
NM_201253.3(CRB1):c.2497G>C (p.Gly833Arg)	rs1664671663
NM_201253.3(CRB1):c.3014A>T (p.Asp1005Val)	rs369184026
NM_201253.3(CRB1):c.3451G>T (p.Gly1151Ter)	rs1558138741
NM_201253.3(CRB1):c.3653G>T (p.Cys1218Phe)	rs1450635782
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del)	rs398124615
NM_201253.3(CRB1):c.506del (p.Gly169fs)	rs1167867158
NM_201253.3(CRB1):c.71del (p.Asn24fs)	rs1654722914
NM_201548.5(CERKL):c.419T>C (p.Leu140Pro)	rs1481841151
NM_206933.4(USH2A):c.10636G>A (p.Gly3546Arg)	rs1553261372
NM_206933.4(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu)	rs1553252388
NM_206933.4(USH2A):c.13339A>G (p.Met4447Val)	rs139474806
NM_206933.4(USH2A):c.1390C>T (p.Arg464Cys)	rs1423536179
NM_206933.4(USH2A):c.3558del (p.Cys1186fs)	rs397518014
NM_206933.4(USH2A):c.490G>T (p.Val164Phe)	rs527236123
NM_206933.4(USH2A):c.6159del (p.Glu2054fs)	rs769838859
NM_206933.4(USH2A):c.6835G>C (p.Asp2279His)	rs1421761057
NM_206933.4(USH2A):c.7950dup (p.Asn2651fs)	rs886041502
NM_206933.4(USH2A):c.9258+1G>T	rs748810737
NM_206933.4(USH2A):c.9788_9808del (p.Ile3263_Gly3269del)	rs1246009294
Single allele