Variants from Variantyx, Inc. with conflicting interpretations

Minimum review status of the submission from Variantyx, Inc.:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Variantyx, Inc.:	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
1008	672	21	920	0	14	231	1030

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
Variantyx, Inc.		pathogenic	likely pathogenic	uncertain significance	likely benign	benign	affects	association	drug response	other
	pathogenic	20	422	82	11	7	0	1	5	2
	likely pathogenic	499	1	139	2	2	1	0	4	1

Submitter to submitter summary #

Submitter	Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
Labcorp Genetics (formerly Invitae), Labcorp	0	365	7	190	0	1	29	227
OMIM	0	333	13	119	0	3	5	140
Revvity Omics, Revvity	0	242	0	80	0	0	15	95
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	246	0	89	0	0	6	95
GeneDx	0	177	1	68	0	0	9	78
Baylor Genetics	0	264	1	66	0	0	7	74
Counsyl	0	103	0	56	0	0	10	66
Fulgent Genetics, Fulgent Genetics	0	220	0	60	0	0	6	66
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	203	1	51	0	0	9	61
Genome-Nilou Lab	0	73	0	35	0	0	13	48
3billion	0	202	0	42	0	0	4	46
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	68	0	33	0	0	12	45
Illumina Laboratory Services, Illumina	0	102	0	35	0	0	7	42
Natera, Inc.	0	175	0	35	0	0	7	42
Department of Pathology and Laboratory Medicine, Sinai Health System	0	87	2	25	0	0	13	40
Mendelics	0	80	2	31	0	0	6	39
CeGaT Center for Human Genetics Tuebingen	0	86	0	26	0	0	5	31
PreventionGenetics, part of Exact Sciences	0	94	0	21	0	0	8	29
Eurofins Ntd Llc (ga)	0	54	0	15	0	1	11	27
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	79	0	20	0	0	6	26
Institute of Human Genetics, University of Leipzig Medical Center	0	140	0	21	0	0	5	26
Neuberg Centre For Genomic Medicine, NCGM	0	62	0	20	0	0	4	24
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	62	0	13	0	0	10	23
Myriad Genetics, Inc.	0	67	0	19	0	0	0	19
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	0	60	0	18	0	0	0	18
MGZ Medical Genetics Center	0	82	0	16	0	0	1	17
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	31	0	13	0	0	3	16
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	30	0	15	0	0	1	16
Genomics England Pilot Project, Genomics England	0	18	0	16	0	0	0	16
Genetic Services Laboratory, University of Chicago	0	69	0	11	0	0	4	15
Athena Diagnostics	0	22	0	12	0	0	2	14
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	41	0	9	0	0	5	14
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix	0	2	0	8	0	0	6	14
First Genomix Gene Laboratory, Genetic Diagnostics Department	0	43	0	14	0	0	0	14
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	73	1	12	0	0	1	14
Mayo Clinic Laboratories, Mayo Clinic	0	42	0	14	0	0	0	14
Department of Human Genetics, Hannover Medical School	0	35	0	13	0	0	0	13
Juno Genomics, Hangzhou Juno Genomics, Inc	0	85	0	13	0	0	0	13
New York Genome Center	0	35	1	10	0	0	1	12
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	42	0	10	0	0	1	11
Color Diagnostics, LLC DBA Color Health	0	34	0	8	0	0	3	11
Institute of Human Genetics Munich, TUM University Hospital	0	69	0	11	0	0	0	11
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	0	58	1	10	0	0	0	11
Clinical Genomics Laboratory, Washington University in St. Louis	0	28	0	9	0	0	1	10
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	69	0	8	0	0	2	10
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum	0	8	0	10	0	0	0	10
Laboratory of Genetics and Molecular Cardiology, University of São Paulo	0	2	0	7	0	0	3	10
Solve-RD Consortium	0	4	0	10	0	0	0	10
ClinPGx	0	0	0	0	0	9	0	9
Dasa	0	68	0	9	0	0	0	9
Genetics and Molecular Pathology, SA Pathology	0	62	0	8	0	0	1	9
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	0	43	0	8	0	0	1	9
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine	0	33	1	8	0	0	0	9
Johns Hopkins Genomics, Johns Hopkins University	0	27	0	5	0	0	4	9
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	0	27	0	8	0	0	1	9
LDLR-LOVD, British Heart Foundation	0	13	0	8	0	0	1	9
NIHR Bioresource Rare Diseases, University of Cambridge	0	9	0	9	0	0	0	9
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge	0	4	0	6	0	0	2	8
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	14	0	7	0	0	1	8
Knight Diagnostic Laboratories, Oregon Health and Sciences University	0	26	1	7	0	0	0	8
Robarts Research Institute, Western University	0	3	0	7	0	0	1	8
SIB Swiss Institute of Bioinformatics	0	11	0	7	0	0	1	8
Undiagnosed Diseases Network, NIH	0	29	1	5	0	0	2	8
All of Us Research Program, National Institutes of Health	0	48	0	4	0	0	3	7
CSER _CC_NCGL, University of Washington	0	1	0	3	0	0	4	7
Clinical Genetics Laboratory, Skane University Hospital Lund	0	46	0	6	0	0	1	7
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	9	0	6	0	0	1	7
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	31	0	7	0	0	0	7
Lifecell International Pvt. Ltd	0	10	0	7	0	0	0	7
Molecular Diagnostics Lab, Nemours Children's Health, Delaware	0	6	1	5	0	0	1	7
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	0	51	0	7	0	0	0	7
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia	0	3	0	6	0	0	0	6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	44	0	6	0	0	0	6
Dubai Health Genomic Medicine Center, Dubai Health	0	19	0	5	0	0	1	6
Fundacion Hipercolesterolemia Familiar	0	3	0	3	0	0	3	6
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	0	13	0	4	0	0	2	6
Kariminejad - Najmabadi Pathology & Genetics Center	0	9	0	5	0	0	1	6
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	16	0	6	0	0	0	6
Laboratory of Genetics, Children's Clinical University Hospital Latvia	0	18	0	6	0	0	0	6
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II	0	4	0	6	0	0	0	6
Medical and Scientific Branch, Hong Kong Genome Institute	0	15	0	6	0	0	0	6
OLLIN Analises Genomicas, OLLIN	0	21	0	5	0	0	1	6
Ambry Genetics	0	17	0	1	0	0	4	5
Center for Medical Genetics Ghent, University of Ghent	0	3	0	4	0	0	1	5
Dunham Lab, University of Washington	0	9	0	5	0	0	0	5
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub	0	18	0	3	0	0	2	5
Iberoamerican FH Network	0	1	0	3	0	0	2	5
Inherited Neuropathy Consortium Ii, University Of Miami	0	0	0	0	0	0	5	5
Molecular Genetics, Royal Melbourne Hospital	0	18	0	5	0	0	0	5
Reproductive Health Research and Development, BGI Genomics	0	13	0	5	0	0	0	5
UCLA Clinical Genomics Center, UCLA	0	3	0	5	0	0	0	5
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	21	0	2	0	0	2	4
Blueprint Genetics	0	4	0	4	0	0	0	4
Breast Cancer Information Core (BIC) (BRCA2)	0	26	0	1	0	0	3	4
CENTOGENE GmbH and LLC - Guiding Precision Medicine	0	29	0	3	0	0	1	4
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital	0	6	0	4	0	0	0	4
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel	0	12	0	4	0	0	0	4
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	0	20	1	3	0	0	0	4
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	0	20	0	4	0	0	0	4
Division of Human Genetics, Children's Hospital of Philadelphia	0	16	0	4	0	0	0	4
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare	0	9	0	4	0	0	0	4
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital	0	10	0	3	0	0	1	4
Institute of Human Genetics, University Hospital of Duesseldorf	0	7	0	4	0	0	0	4
Laboratoire de Génétique Moléculaire, CHU Bordeaux	0	9	0	4	0	0	0	4
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine	0	0	0	2	0	0	2	4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	0	4	0	4	0	0	0	4
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation	0	4	0	4	0	0	0	4
PXE International	0	5	0	4	0	0	0	4
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	0	0	0	2	0	0	2	4
Suma Genomics	0	5	0	1	0	0	3	4
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute	0	9	0	3	0	0	0	3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	0	7	0	2	0	0	1	3
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	0	11	0	2	0	0	1	3
Center for Human Genetics, Inc, Center for Human Genetics, Inc	0	15	0	3	0	0	0	3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	0	17	0	3	0	0	0	3
Clinical Genomics Laboratory, Stanford Medicine	0	12	0	2	0	0	1	3
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital	0	6	0	3	0	0	0	3
Daryl Scott Lab, Baylor College of Medicine	0	25	0	3	0	0	0	3
GeneReviews	0	108	0	3	0	0	0	3
Genome Diagnostics Laboratory, Amsterdam University Medical Center	0	15	0	2	0	0	1	3
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	0	9	1	1	0	0	1	3
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA	0	9	1	2	0	0	0	3
Institute of Human Genetics, Heidelberg University	0	17	0	3	0	0	0	3
Institute of Immunology and Genetics Kaiserslautern	0	31	0	2	0	0	1	3
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)	0	5	0	3	0	0	0	3
KCCC/NGS Laboratory, Kuwait Cancer Control Center	0	14	0	2	0	0	1	3
Lildballe Lab, Aarhus University Hospital	0	1	0	3	0	0	0	3
MVZ Martinsried, Medicover Genetics	0	4	0	3	0	0	0	3
Next Generation Genetic Polyclinic	0	2	0	3	0	0	0	3
Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, Mayo Clinic	0	5	0	3	0	0	0	3
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	0	12	0	2	0	0	1	3
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille	0	9	0	3	0	0	0	3
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill	0	17	0	3	0	0	0	3
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital	0	4	0	2	0	0	0	2
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	0	5	0	1	0	0	1	2
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	0	3	0	2	0	0	0	2
Center for Molecular Medicine, Children’s Hospital of Fudan University	0	3	0	2	0	0	0	2
Center of Genomic medicine, Geneva, University Hospital of Geneva	0	11	1	1	0	0	0	2
Centre of Medical Genetics, University of Antwerp	0	3	0	2	0	0	0	2
ClinGen ACADVL Variant Curation Expert Panel, ClinGen	0	3	0	1	0	0	1	2
ClinGen Potassium Channel Arrhythmia Variant Curation Expert Panel, ClinGen	0	0	0	2	0	0	0	2
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada	0	4	0	2	0	0	0	2
Clinical Genetics Laboratory, Region Ostergotland	0	8	0	2	0	0	0	2
Clinical Genetics, Academic Medical Center	0	10	0	2	0	0	0	2
Department of Human Genetics, Laborarztpraxis Dres. Walther, Weindel und Kollegen	0	2	0	2	0	0	0	2
Department of Medical Genetics, Oslo University Hospital	0	16	0	2	0	0	0	2
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center	0	3	0	2	0	0	0	2
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital	0	1	0	2	0	0	0	2
Eurofins-Biomnis	0	3	0	2	0	0	0	2
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli	0	4	0	2	0	0	0	2
Genomic Medicine Lab, University of California San Francisco	0	11	0	2	0	0	0	2
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas	0	0	0	0	0	1	1	2
Hadassah Hebrew University Medical Center	0	9	0	2	0	0	0	2
Inherited Neuropathy Consortium	0	0	0	0	0	0	2	2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	0	9	0	0	0	0	2	2
Institute for Integrative and Experimental Genomics, University of Luebeck	0	0	0	1	0	0	1	2
Institute of Human Genetics, Medical University Innsbruck	0	4	0	2	0	0	0	2
Institute of Medical Molecular Genetics, University of Zurich	0	2	0	2	0	0	0	2
King Laboratory, University of Washington	0	2	0	2	0	0	0	2
Medical Genetics Summaries	0	0	0	0	0	2	0	2
Medical Molecular Genetics, National Research Centre	0	1	0	1	0	0	1	2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota	0	4	0	2	0	0	0	2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals	0	18	0	2	0	0	0	2
NeuroMeGen, Hospital Clinico Santiago de Compostela	0	0	0	2	0	0	0	2
Ocular Genomics Institute, Massachusetts Eye and Ear	0	8	0	2	0	0	0	2
PROSPAX: an integrated multimodal progression chart in spastic ataxias, Center for Neurology; Hertie-Institute for Clinical Brain Research	0	8	0	2	0	0	0	2
Paris Brain Institute, Inserm - ICM	0	8	0	2	0	0	0	2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center	0	17	0	2	0	0	0	2
RettBASE	0	4	0	0	0	0	2	2
Stanford Center for Inherited Cardiovascular Disease, Stanford University	0	1	0	2	0	0	0	2
University of Washington Center for Mendelian Genomics, University of Washington	0	2	0	2	0	0	0	2
University of Washington Department of Laboratory Medicine, University of Washington	0	2	0	2	0	0	0	2
Versiti Diagnostic Laboratories, Versiti, Inc	0	1	0	1	0	0	1	2
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine	0	3	0	1	0	0	1	2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	0	18	0	2	0	0	0	2
deCODE genetics, Amgen	0	6	0	2	0	0	0	2
AiLife Diagnostics, AiLife Diagnostics	0	12	0	1	0	0	0	1
Amrita Institute of Medical Sciences and Research Centre, Amrita Vishwa Vidyapeetham	0	0	0	1	0	0	0	1
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico	0	1	0	0	0	0	1	1
Arcensus	0	2	0	1	0	0	0	1
BRCAlab, Lund University	0	21	0	1	0	0	0	1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital	0	2	0	1	0	0	0	1
Biochemistry Laboratory of CDMU, Chengde Medical University	0	0	0	1	0	0	0	1
Breakthrough Genomics, Breakthrough Genomics	0	7	0	0	0	0	1	1
Breast Cancer Information Core (BIC) (BRCA1)	0	17	0	0	0	0	1	1
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service	0	13	0	1	0	0	0	1
Cardiology unit, Meyer University Hospital	0	0	0	1	0	0	0	1
Cardiovascular Biomarker Research Laboratory, Mayo Clinic	0	1	0	0	0	0	1	1
Care4Rare-SOLVE, CHEO	0	1	0	0	0	0	1	1
Cavalleri Lab, Royal College of Surgeons in Ireland	0	6	0	0	0	0	1	1
Center for Genetic Medicine Research, Children's National Medical Center	0	0	0	1	0	0	0	1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	10	0	1	0	0	0	1
Center of Excellence for Medical Genomics, Chulalongkorn University	0	0	0	1	0	0	0	1
Center of Human Genetics, Hôpital Erasme	0	12	0	1	0	0	0	1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	0	8	0	1	0	0	0	1
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital	0	7	0	1	0	0	0	1
Centre for Genetic Disorders, Banaras Hindu University	0	0	0	1	0	0	0	1
Centre for Medical Genetics, Mumbai	0	0	0	0	0	0	1	1
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel	0	8	0	1	0	0	0	1
ClinGen PAH Variant Curation Expert Panel	0	8	0	1	0	0	0	1
ClinVar Staff, National Center for Biotechnology Information (NCBI)	0	0	0	1	0	0	0	1
Clingen Thrombosis Variant Curation Expert Panel, ClinGen	0	0	0	1	0	0	0	1
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska"	0	1	0	1	0	0	0	1
Clinical Genetics and Genomics, Karolinska University Hospital	0	3	0	1	0	0	0	1
Clinical Genomic Analysis (GENYSIS) Core, University of North Carolina at Chapel Hill	0	1	0	1	0	0	0	1
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	0	1	0	0	0	0	1	1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)	0	7	0	1	0	0	0	1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital	0	0	0	1	0	0	0	1
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	0	48	0	1	0	0	0	1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia	0	0	0	0	0	0	1	1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences	0	8	0	1	0	0	0	1
Dan Cohn Lab, University Of California Los Angeles	0	1	0	1	0	0	0	1
Department Of Endocrinology, Sanjay Gandhi Postgraduate Institute Of Medical Sciences	0	0	0	1	0	0	0	1
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences	0	0	0	1	0	0	0	1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine	0	8	0	1	0	0	0	1
Department of Internal Medicine, University of Texas Health Science Center at Houston	0	0	0	1	0	0	0	1
Department of Medical Genetics, University Hospital of North Norway	0	0	0	1	0	0	0	1
Department of Molecular Genetics, Istishari Arab Hospital	0	5	0	1	0	0	0	1
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences	0	1	0	1	0	0	0	1
Department of Neurology, National Cerebral and Cardiovascular Center	0	0	0	1	0	0	0	1
Department of Ophthalmology and Visual Sciences Kyoto University	0	0	0	0	0	0	1	1
Department of Otolaryngology Head and Neck Surgery, Hainan Hospital of the Chinese People’s Liberation Army General Hospital	0	6	0	1	0	0	0	1
Department of Paediatrics at Addenbrookes, Cambridge University Hospitals NHS Foundation Trust (UK)	0	3	0	1	0	0	0	1
Department of Pediatrics, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology	0	0	0	0	0	0	1	1
Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania	0	0	0	0	0	0	1	1
Diagnostic Laboratory, Strasbourg University Hospital	0	0	0	1	0	0	0	1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	0	0	0	1	0	0	0	1
Division of Hearing and Balance Research, National Hospital Organization Tokyo Medical Center	0	0	0	1	0	0	0	1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand	0	7	0	1	0	0	0	1
Division of Medical Genetics, University of Washington	0	4	0	1	0	0	0	1
Division of Medical Genetics; Sainte-Justine Hospital	0	1	0	1	0	0	0	1
Duke University Health System Sequencing Clinic, Duke University Health System	0	7	0	1	0	0	0	1
Elsea Laboratory, Baylor College of Medicine	0	2	0	0	0	0	1	1
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	0	48	0	1	0	0	0	1
FirmaLab, FirmaLab	0	0	0	1	0	0	0	1
GenePathDx, GenePath diagnostics	0	0	0	1	0	0	0	1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam	0	8	0	1	0	0	0	1
Genetic Foundation of Khorasan Razavi (GFKR)	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	14	0	1	0	0	0	1
Genetics Department, Catlab	0	3	0	1	0	0	0	1
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences	0	1	0	1	0	0	0	1
Genome Diagnostics Laboratory, The Hospital for Sick Children	0	8	0	0	0	0	1	1
Genome Medicine, Institute for Basic Research in Developmental Disabilities	0	2	0	1	0	0	0	1
Genomenon, Inc, Genomenon, Inc	0	2	0	1	0	0	0	1
Genomics And Bioinformatics Analysis Resource, Columbia University	0	3	0	1	0	0	0	1
Gill Bejerano Lab, Stanford University	0	0	0	1	0	0	0	1
ITMI	0	2	0	1	0	0	0	1
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino"	0	2	0	1	0	0	0	1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn	0	5	0	1	0	0	0	1
Institute for Human Genetics, University Medical Center Freiburg	0	0	0	1	0	0	0	1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin	0	10	0	1	0	0	0	1
Institute of Genomics, University of Tartu	0	2	0	1	0	0	0	1
Institute of Human Genetics Greifswald, Research Division, University Medicine Greifswald	0	1	0	1	0	0	0	1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn	0	11	0	1	0	0	0	1
Institute of Human Genetics, Cologne University	0	2	0	1	0	0	0	1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg	0	6	0	1	0	0	0	1
Integrating Genomics into Medicine, Frazer Institute, University Of Queensland	0	7	0	1	0	0	0	1
Intergen Genetics and Rare Diseases Diagnosis Center	0	4	0	1	0	0	0	1
KardioGenetik, Herz- und Diabeteszentrum NRW	0	2	0	1	0	0	0	1
Kids Research, The Children's Hospital at Westmead	0	0	0	1	0	0	0	1
Klaassen Lab, Charite University Medicine Berlin	0	0	0	1	0	0	0	1
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova	0	4	0	1	0	0	0	1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	0	7	0	1	0	0	0	1
Laboratory of Human Genetics, Universidade de São Paulo	0	0	0	1	0	0	0	1
Laboratory of Medical Genetics, University of Torino	0	4	0	1	0	0	0	1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes	0	1	0	1	0	0	0	1
Laboratory of Molecular Genetics, Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine	0	1	0	1	0	0	0	1
Laboratory of Prof. Karen Avraham, Tel Aviv University	0	3	0	1	0	0	0	1
Leiden Open Variation Database	0	5	0	1	0	0	0	1
MVZ Medizinische Genetik Mainz	0	0	0	1	0	0	0	1
Medgenome Labs Pvt Ltd	0	0	0	1	0	0	0	1
Medical Genetics, Spectrum Health	0	0	0	1	0	0	0	1
Medical Genetics, University of Parma	0	4	0	0	0	0	1	1
Molecular Biology Laboratory, Fundació Puigvert	0	8	0	1	0	0	0	1
Molecular Genetics Lab, CHRU Brest	0	2	0	1	0	0	0	1
Molecular Genetics Laboratory - Cardiogenetics, CHU de Nantes	0	1	0	1	0	0	0	1
Molecular Genetics laboratory, Necker Hospital	0	0	0	1	0	0	0	1
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health	0	1	0	1	0	0	0	1
National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center	0	1	0	0	0	1	0	1
Neurogenetic Laboratory, Second Faculty of Medicine, Charles University	0	0	0	1	0	0	0	1
Neurology Department, Peking University First Hospital	0	2	0	0	0	0	1	1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL)	0	6	0	1	0	0	0	1
Neuromuscular disorders lab, University of Helsinki	0	0	0	1	0	0	0	1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust	0	11	0	1	0	0	0	1
PDHA1 Study Group, University Children’s Hospital, Paracelsus Medical University	0	3	0	1	0	0	0	1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City	0	2	0	1	0	0	0	1
Pediatric Department, Peking University First Hospital	0	0	0	1	0	0	0	1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations	0	1	0	1	0	0	0	1
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking C/o Practice Pomarino	0	1	0	1	0	0	0	1
Precision Medicine Center, Zhengzhou University	0	0	0	0	0	0	1	1
Provincial Medical Genetics Program of British Columbia, University of British Columbia	0	3	0	1	0	0	0	1
Quest Diagnostics Nichols Institute San Juan Capistrano	0	24	0	1	0	0	0	1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences	0	0	0	1	0	0	0	1
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation	0	0	0	0	0	0	1	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	4	0	1	0	0	0	1
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur	0	0	0	1	0	0	0	1
Service of Pediatric Gastrohepatology and Metabolic Diseases, University of Medicine of Tirana	0	2	1	0	0	0	0	1
Shaikh Laboratory, University of Colorado	0	0	0	1	0	0	0	1
Sharing Clinical Reports Project (SCRP)	0	40	0	1	0	0	0	1
Shieh Lab, University of California, San Francisco	0	1	0	1	0	0	0	1
SingHealth Duke-NUS Institute of Precision Medicine	0	1	0	0	0	0	1	1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University	0	0	0	1	0	0	0	1
Sydney Genome Diagnostics, Children's Hospital Westmead	0	0	0	1	0	0	0	1
Tehran Medical Genetics Laboratory	0	0	0	1	0	0	0	1
The Shared Resource Centre "Genome", Research Centre for Medical Genetics	0	2	0	1	0	0	0	1
Variantyx, Inc.	2703	6	0	1	0	0	0	1
WangQJ Lab, Chinese People's Liberation Army General Hospital	0	1	0	1	0	0	0	1
Wonkam Laboratory, Johns Hopkins University	0	0	0	1	0	0	0	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_001173990.3(TMEM216):c.*558G>A	rs7607	0.73129
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val)	rs1801133	0.27446
NM_003661.4(APOL1):c.1024A>G (p.Ser342Gly)	rs73885319	0.06773
NM_005105.5(RBM8A):c.*6C>G	rs12079762	0.04454
NM_000402.4(G6PD):c.292G>A (p.Val98Met)	rs1050828	0.03616
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)	rs13078881	0.03225
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln)	rs61747728	0.02796
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)	rs17580	0.02788
NM_005105.5(RBM8A):c.-21G>A	rs139428292	0.01871
NM_000130.4(F5):c.1601G>A (p.Arg534Gln)	rs6025	0.01762
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile)	rs121908120	0.01412
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)	rs28929474	0.01282
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly)	rs1799807	0.01259
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)	rs35887622	0.00944
NM_000492.4(CFTR):c.1210-11T>G	rs73715573	0.00886
NM_001902.6(CTH):c.200C>T (p.Thr67Ile)	rs28941785	0.00693
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His)	rs62642564	0.00654
NM_016233.2(PADI3):c.881C>T (p.Ala294Val)	rs144080386	0.00620
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter)	rs55960271	0.00561
NM_005105.5(RBM8A):c.67+32G>C	rs201779890	0.00518
NM_016233.2(PADI3):c.335T>A (p.Leu112His)	rs142129409	0.00490
NM_000350.3(ABCA4):c.4253+43G>A	rs61754045	0.00486
NM_000371.4(TTR):c.424G>A (p.Val142Ile)	rs76992529	0.00475
NM_000110.4(DPYD):c.1905+1G>A	rs3918290	0.00474
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)	rs76157638	0.00445
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)	rs72474224	0.00393
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)	rs34557412	0.00391
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)	rs104894313	0.00375
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)	rs61755320	0.00364
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly)	rs139548132	0.00360
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile)	rs121918166	0.00350
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)	rs77931234	0.00347
NM_025152.3(NUBPL):c.815-27T>C	rs118161496	0.00343
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)	rs36053993	0.00341
NM_000110.4(DPYD):c.2846A>T (p.Asp949Val)	rs67376798	0.00334
NM_000055.2(BCHE):c.1253G>T (p.Gly418Val)	rs28933390	0.00310
NM_000301.5(PLG):c.112A>G (p.Lys38Glu)	rs73015965	0.00279
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp)	rs141090143	0.00273
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)	rs1800553	0.00269
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys)	rs6161	0.00262
NM_201631.4(TGM5):c.337G>T (p.Gly113Cys)	rs112292549	0.00252
NM_002016.2(FLG):c.2476C>T (p.Arg826Ter)	rs115746363	0.00243
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg)	rs117225135	0.00188
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)	rs113624356	0.00188
NM_000017.4(ACADS):c.529T>C (p.Trp177Arg)	rs57443665	0.00186
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter)	rs116987552	0.00178
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr)	rs121912691	0.00175
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)	rs34612342	0.00168
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)	rs61751374	0.00164
NM_007055.4(POLR3A):c.1909+22G>A	rs191875469	0.00156
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met)	rs41292782	0.00151
NM_000431.4(MVK):c.1129G>A (p.Val377Ile)	rs28934897	0.00149
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro)	rs76723693	0.00149
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys)	rs104894299	0.00147
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu)	rs147231991	0.00146
NM_002016.2(FLG):c.9740C>A (p.Ser3247Ter)	rs150597413	0.00144
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)	rs75184679	0.00141
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter)	rs150766139	0.00138
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu)	rs74315294	0.00131
NM_152268.4(PARS2):c.1091C>G (p.Pro364Arg)	rs35201073	0.00128
NM_213607.3(DNAAF19):c.461A>C (p.His154Pro)	rs145457535	0.00123
NM_002470.4(MYH3):c.-9+1G>A	rs557849165	0.00117
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys)	rs1801155	0.00116
NM_001080483.3(MYMK):c.271C>A (p.Pro91Thr)	rs137868995	0.00116
NM_007254.4(PNKP):c.1029+2T>C	rs199919568	0.00111
NM_024514.5(CYP2R1):c.296T>C (p.Leu99Pro)	rs61495246	0.00107
NM_014956.5(CEP164):c.4228C>T (p.Gln1410Ter)	rs147398904	0.00106
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser)	rs141659620	0.00102
NM_021628.3(ALOXE3):c.1889C>T (p.Pro630Leu)	rs147149459	0.00102
NM_000155.4(GALT):c.404C>T (p.Ser135Leu)	rs111033690	0.00094
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp)	rs142572218	0.00087
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu)	rs121909551	0.00084
NM_000350.3(ABCA4):c.5077G>A (p.Val1693Ile)	rs61750563	0.00082
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val)	rs141976414	0.00080
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys)	rs150726175	0.00077
NM_000235.4(LIPA):c.894G>A (p.Gln298=)	rs116928232	0.00075
NM_000402.4(G6PD):c.934G>C (p.Asp312His)	rs137852318	0.00072
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val)	rs116135678	0.00072
NM_005797.4(MPZL2):c.72del (p.Ile24fs)	rs752672077	0.00067
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)	rs80338933	0.00067
NM_000128.4(F11):c.901T>C (p.Phe301Leu)	rs121965064	0.00066
NM_013339.4(ALG6):c.257+5G>A	rs199682486	0.00065
NM_001086521.2(NDUFAF8):c.195+271C>T	rs745332456	0.00063
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln)	rs146251364	0.00063
NM_001177316.2(SLC34A3):c.575C>T (p.Ser192Leu)	rs199690076	0.00059
NM_001492.6(GDF1):c.681C>A (p.Cys227Ter)	rs121434422	0.00058
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met)	rs143319805	0.00057
NM_001329943.3(KIAA0586):c.94dup (p.His32fs)	rs555421894	0.00056
NM_001361.5(DHODH):c.403C>T (p.Arg135Cys)	rs201230446	0.00054
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln)	rs74315342	0.00054
NM_000275.3(OCA2):c.1255C>T (p.Arg419Trp)	rs143218168	0.00052
NM_138691.3(TMC1):c.1763+3A>G	rs370898981	0.00051
NM_014324.6(AMACR):c.154T>C (p.Ser52Pro)	rs121917814	0.00049
NM_000277.3(PAH):c.734T>C (p.Val245Ala)	rs76212747	0.00048
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)	rs137852944	0.00048
NM_000016.6(ACADM):c.199T>C (p.Tyr67His)	rs121434280	0.00047
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)	rs76434661	0.00047
NM_000016.6(ACADM):c.600-18G>A	rs370523609	0.00046
NM_012144.4(DNAI1):c.389-1G>C	rs200488444	0.00046
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)	rs199605265	0.00046
NM_002016.2(FLG):c.12064A>T (p.Lys4022Ter)	rs146466242	0.00045
NM_004773.4(ZNHIT3):c.92C>T (p.Ser31Leu)	rs148890852	0.00042
NM_000204.5(CFI):c.355G>A (p.Gly119Arg)	rs141853578	0.00040
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp)	rs121918170	0.00040
NM_001292063.2(OTOG):c.2464C>T (p.Gln822Ter)	rs554847663	0.00040
NM_000199.5(SGSH):c.734G>A (p.Arg245His)	rs104894635	0.00039
NM_014249.4(NR2E3):c.119-2A>C	rs2723341	0.00038
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val)	rs150212784	0.00037
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp)	rs146379816	0.00036
NM_001609.4(ACADSB):c.303+1G>A	rs147936696	0.00036
NM_002016.2(FLG):c.3321del (p.Gly1109fs)	rs200519781	0.00036
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys)	rs199946797	0.00035
NM_012452.3(TNFRSF13B):c.260T>A (p.Ile87Asn)	rs72553877	0.00034
NM_014444.5(TUBGCP4):c.1746G>T (p.Leu582=)	rs200092283	0.00034
NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser)	rs61761869	0.00032
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys)	rs148812376	0.00032
NM_017739.4(POMGNT1):c.1539+1G>A	rs138642840	0.00032
NM_001256071.3(RNF213):c.14429G>A (p.Arg4810Lys)	rs112735431	0.00030
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)	rs119103267	0.00029
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)	rs5742904	0.00028
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)	rs5030868	0.00028
NM_000303.3(PMM2):c.722G>C (p.Cys241Ser)	rs80338709	0.00027
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly)	rs144564120	0.00027
NM_001930.4(DHPS):c.1014+1G>A	rs142633494	0.00027
NM_022168.4(IFIH1):c.2016del (p.Asp673fs)	rs773033563	0.00027
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys)	rs137852339	0.00026
NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys)	rs142931246	0.00025
NM_001083614.2(EARS2):c.328G>A (p.Gly110Ser)	rs201842633	0.00025
NM_002693.3(POLG):c.2246T>C (p.Phe749Ser)	rs202037973	0.00025
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)	rs142441643	0.00025
NM_016146.6(TRAPPC4):c.454+3A>G	rs375776811	0.00025
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser)	rs201738967	0.00024
NM_001386393.1(PANK2):c.1231G>A (p.Gly411Arg)	rs137852959	0.00024
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu)	rs61750130	0.00023
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln)	rs149866955	0.00023
NM_030653.4(DDX11):c.1763-1G>C	rs148856317	0.00023
NM_000098.3(CPT2):c.149C>A (p.Pro50His)	rs28936375	0.00022
NM_001385.3(DPYS):c.1469G>A (p.Arg490His)	rs189448963	0.00021
NM_003384.3(VRK1):c.1160G>A (p.Arg387His)	rs1420939606	0.00021
NM_080916.3(DGUOK):c.462T>A (p.Asn154Lys)	rs144181978	0.00021
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu)	rs28941773	0.00020
NM_024339.5(THOC6):c.824G>A (p.Gly275Asp)	rs200426926	0.00020
NM_000277.3(PAH):c.506G>A (p.Arg169His)	rs199475679	0.00019
NM_001081.4(CUBN):c.5428C>T (p.Arg1810Ter)	rs143944436	0.00019
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs)	rs397515540	0.00019
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)	rs80338948	0.00019
NM_021828.5(HPSE2):c.1465_1466del (p.Asn489fs)	rs397515338	0.00019
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu)	rs201709513	0.00019
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe)	rs61751408	0.00018
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe)	rs72552778	0.00018
NM_002905.5(RDH5):c.712G>T (p.Gly238Trp)	rs62638191	0.00018
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln)	rs141498002	0.00017
NM_001349232.2(ATG7):c.1975C>T (p.Arg659Ter)	rs201706487	0.00017
NM_004004.6(GJB2):c.-23+1G>A	rs80338940	0.00017
NM_000016.6(ACADM):c.797A>G (p.Asp266Gly)	rs201375579	0.00016
NM_001177316.2(SLC34A3):c.448+1G>A	rs150841256	0.00016
NM_001378609.3(OTOGL):c.1078C>T (p.Arg360Ter)	rs368844341	0.00016
NM_004153.4(ORC1):c.314G>A (p.Arg105Gln)	rs143141689	0.00016
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg)	rs200672755	0.00016
NM_014321.4(ORC6):c.449+5G>A	rs572314014	0.00016
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)	rs137852986	0.00016
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter)	rs104894077	0.00015
NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu)	rs121908114	0.00015
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp)	rs28941784	0.00015
NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln)	rs147764579	0.00014
NM_001377.3(DYNC2H1):c.10573C>T (p.Arg3525Ter)	rs181011657	0.00014
NM_032635.4(TMEM147):c.19G>C (p.Gly7Arg)	rs200901862	0.00014
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp)	rs201725369	0.00014
NM_213599.3(ANO5):c.2498T>A (p.Met833Lys)	rs142073798	0.00014
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg)	rs121434274	0.00013
NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg)	rs200788251	0.00013
NM_000329.3(RPE65):c.11+5G>A	rs61751276	0.00013
NM_004614.5(TK2):c.415G>A (p.Ala139Thr)	rs138479499	0.00013
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)	rs121913049	0.00013
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter)	rs71530923	0.00013
NM_016239.4(MYO15A):c.8090T>C (p.Val2697Ala)	rs200451098	0.00013
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)	rs61752717	0.00012
NM_000350.3(ABCA4):c.5196+1137G>A	rs778234759	0.00012
NM_012452.3(TNFRSF13B):c.512T>G (p.Leu171Arg)	rs143027621	0.00012
NM_014625.4(NPHS2):c.868G>A (p.Val290Met)	rs200482683	0.00012
NM_018116.4(MSTO1):c.651C>G (p.Phe217Leu)	rs776826330	0.00012
NM_000053.4(ATP7B):c.-676A>G	rs1021025464	0.00011
NM_000478.6(ALPL):c.529G>A (p.Ala177Thr)	rs199669988	0.00011
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)	rs118192172	0.00011
NM_001918.5(DBT):c.827T>G (p.Phe276Cys)	rs121964999	0.00011
NM_002768.5(CHMP1A):c.88C>T (p.Gln30Ter)	rs397515426	0.00011
NM_014889.4(PITRM1):c.2792C>T (p.Thr931Met)	rs187308159	0.00011
NM_016630.7(SPG21):c.118C>T (p.Arg40Ter)	rs555126484	0.00011
NM_020365.5(EIF2B3):c.260C>T (p.Ala87Val)	rs113994022	0.00011
NM_206538.4(EMC10):c.343C>T (p.Arg115Ter)	rs151303712	0.00011
NM_000402.4(G6PD):c.961G>A (p.Val321Met)	rs137852327	0.00010
NM_001113378.2(FANCI):c.3041G>A (p.Cys1014Tyr)	rs140404896	0.00010
NM_001126108.2(SLC12A3):c.961C>T (p.Arg321Trp)	rs150046661	0.00010
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter)	rs546989392	0.00010
NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro)	rs138043021	0.00010
NM_145020.5(CFAP53):c.1282G>T (p.Glu428Ter)	rs199505634	0.00010
NM_176787.5(PIGN):c.548_549+6del	rs779636222	0.00010
NM_000053.4(ATP7B):c.3859G>A (p.Gly1287Ser)	rs762866453	0.00009
NM_000153.4(GALC):c.1586C>T (p.Thr529Met)	rs200960659	0.00009
NM_000257.4(MYH7):c.2606G>A (p.Arg869His)	rs202141173	0.00009
NM_001358921.2(COQ2):c.533A>G (p.Asn178Ser)	rs121918232	0.00009
NM_015102.5(NPHP4):c.1462C>T (p.Arg488Ter)	rs778043242	0.00009
NM_018451.5(CPAP):c.1586C>G (p.Ser529Ter)	rs202058504	0.00009
NM_021871.4(FGA):c.510+1G>T	rs146387238	0.00009
NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala)	rs587783299	0.00008
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys)	rs61750200	0.00008
NM_000402.4(G6PD):c.770G>A (p.Arg257Gln)	rs137852328	0.00008
NM_002693.3(POLG):c.1880G>A (p.Arg627Gln)	rs375305567	0.00008
NM_004004.6(GJB2):c.283G>A (p.Val95Met)	rs111033299	0.00008
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu)	rs13447331	0.00008
NM_014704.4(CEP104):c.1003C>T (p.Gln335Ter)	rs144744629	0.00008
NM_018116.4(MSTO1):c.836G>A (p.Arg279His)	rs563943670	0.00008
NM_054012.4(ASS1):c.773C>T (p.Ala258Val)	rs753078725	0.00008
NM_000085.5(CLCNKB):c.610G>A (p.Ala204Thr)	rs121909132	0.00007
NM_000402.4(G6PD):c.185A>G (p.His62Arg)	rs137852340	0.00007
NM_001377.3(DYNC2H1):c.10322T>C (p.Leu3441Pro)	rs771487311	0.00007
NM_002437.5(MPV17):c.191C>G (p.Pro64Arg)	rs375401970	0.00007
NM_006059.4(LAMC3):c.3871C>T (p.Arg1291Ter)	rs201793200	0.00007
NM_015202.5(KATNIP):c.49C>T (p.Arg17Ter)	rs142375551	0.00007
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln)	rs121918243	0.00007
NM_139027.6(ADAMTS13):c.3482T>C (p.Ile1161Thr)	rs200847393	0.00007
NM_000017.4(ACADS):c.973C>T (p.Arg325Trp)	rs121908006	0.00006
NM_000018.4(ACADVL):c.1434G>A (p.Met478Ile)	rs775537775	0.00006
NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys)	rs121918528	0.00006
NM_000132.4(F8):c.1094A>G (p.Tyr365Cys)	rs375241473	0.00006
NM_000137.4(FAH):c.782C>T (p.Pro261Leu)	rs80338898	0.00006
NM_000152.5(GAA):c.1124G>A (p.Arg375His)	rs142752477	0.00006
NM_000183.3(HADHB):c.712C>T (p.Arg238Trp)	rs764006338	0.00006
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg)	rs397515912	0.00006
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln)	rs121909374	0.00006
NM_000400.4(ERCC2):c.2171T>C (p.Met724Thr)	rs763701580	0.00006
NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser)	rs121918014	0.00006
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys)	rs118204437	0.00006
NM_000520.6(HEXA):c.806-7G>A	rs770932296	0.00006
NM_001171.6(ABCC6):c.2278C>T (p.Arg760Trp)	rs72653788	0.00006
NM_002617.4(PEX10):c.814_815del (p.Leu272fs)	rs61752093	0.00006
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys)	rs144500145	0.00006
NM_014714.4(IFT140):c.1377G>A (p.Trp459Ter)	rs140039128	0.00006
NM_022552.5(DNMT3A):c.1903C>T (p.Arg635Trp)	rs144689354	0.00006
NM_025099.6(CTC1):c.2959C>T (p.Arg987Trp)	rs202138550	0.00006
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)	rs104886142	0.00006
NM_000023.4(SGCA):c.614C>A (p.Pro205His)	rs757481230	0.00005
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter)	rs121917901	0.00005
NM_000128.4(F11):c.438C>A (p.Cys146Ter)	rs121965066	0.00005
NM_000158.4(GBE1):c.1544G>A (p.Arg515His)	rs201958741	0.00005
NM_000256.3(MYBPC3):c.1224-80G>A	rs1025692267	0.00005
NM_000256.3(MYBPC3):c.1790G>A (p.Arg597Gln)	rs727503195	0.00005
NM_000292.3(PHKA2):c.4C>G (p.Arg2Gly)	rs140014925	0.00005
NM_000303.3(PMM2):c.691G>A (p.Val231Met)	rs80338707	0.00005
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr)	rs61751402	0.00005
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg)	rs121918593	0.00005
NM_001130987.2(DYSF):c.853C>T (p.Arg285Trp)	rs149827237	0.00005
NM_001166114.2(PNPLA6):c.4045C>T (p.Arg1349Trp)	rs374434303	0.00005
NM_001171.6(ABCC6):c.3340C>T (p.Arg1114Cys)	rs63749794	0.00005
NM_001930.4(DHPS):c.518A>G (p.Asn173Ser)	rs758100382	0.00005
NM_003052.5(SLC34A1):c.244G>T (p.Glu82Ter)	rs377186926	0.00005
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr)	rs752623413	0.00005
NM_006005.3(WFS1):c.1673G>A (p.Arg558His)	rs774265764	0.00005
NM_006005.3(WFS1):c.505G>A (p.Glu169Lys)	rs148953711	0.00005
NM_012144.4(DNAI1):c.1490G>A (p.Gly497Asp)	rs376252276	0.00005
NM_016219.5(MAN1B1):c.1000C>T (p.Arg334Cys)	rs387906886	0.00005
NM_018668.5(VPS33B):c.277C>T (p.Arg93Ter)	rs368124813	0.00005
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe)	rs104894080	0.00005
NM_021971.4(GMPPB):c.988G>A (p.Val330Ile)	rs199922550	0.00005
NM_022124.6(CDH23):c.4562A>G (p.Asn1521Ser)	rs780987516	0.00005
NM_024911.7(WLS):c.1433A>G (p.Tyr478Cys)	rs985347096	0.00005
NM_145207.3(AFG2A):c.1963C>T (p.Arg655Ter)	rs763737752	0.00005
NM_000053.4(ATP7B):c.1630C>T (p.Gln544Ter)	rs766906034	0.00004
NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser)	rs80356701	0.00004
NM_000238.4(KCNH2):c.2717C>T (p.Ser906Leu)	rs199473435	0.00004
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys)	rs397516074	0.00004
NM_000303.3(PMM2):c.24del (p.Cys9fs)	rs768021123	0.00004
NM_000348.4(SRD5A2):c.513G>C (p.Arg171Ser)	rs756405261	0.00004
NM_000371.4(TTR):c.262A>T (p.Ile88Leu)	rs121918085	0.00004
NM_000431.4(MVK):c.608T>C (p.Val203Ala)	rs104895332	0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu)	rs139043155	0.00004
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met)	rs118192177	0.00004
NM_000552.5(VWF):c.4021C>T (p.Arg1341Trp)	rs61749402	0.00004
NM_000552.5(VWF):c.5347T>G (p.Ser1783Ala)	rs267607353	0.00004
NM_001253852.3(AP4B1):c.1557T>A (p.Tyr519Ter)	rs529495094	0.00004
NM_001414.4(EIF2B1):c.439C>T (p.Arg147Ter)	rs370678173	0.00004
NM_002016.2(FLG):c.10969C>T (p.Arg3657Ter)	rs749083759	0.00004
NM_002225.5(IVD):c.1232G>A (p.Arg411Gln)	rs143348838	0.00004
NM_002633.3(PGM1):c.988G>C (p.Gly330Arg)	rs777164338	0.00004
NM_002693.3(POLG):c.428C>T (p.Ala143Val)	rs796052899	0.00004
NM_003620.4(PPM1D):c.1654C>T (p.Arg552Ter)	rs779070661	0.00004
NM_004268.5(MED17):c.1597C>T (p.Gln533Ter)	rs752341132	0.00004
NM_004727.3(SLC24A1):c.1963C>T (p.Arg655Ter)	rs201452975	0.00004
NM_005502.4(ABCA1):c.1759C>T (p.Arg587Trp)	rs2853574	0.00004
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)	rs199628364	0.00004
NM_017780.4(CHD7):c.5533G>A (p.Gly1845Arg)	rs753347128	0.00004
NM_020549.5(CHAT):c.1669G>A (p.Ala557Thr)	rs372760913	0.00004
NM_030813.6(CLPB):c.703G>T (p.Glu235Ter)	rs374473067	0.00004
NM_138413.4(HOGA1):c.769T>G (p.Cys257Gly)	rs267606764	0.00004
NM_170707.4(LMNA):c.1580G>A (p.Arg527His)	rs57520892	0.00004
NM_172351.3(CD46):c.286+2T>G	rs769742294	0.00004
NM_177924.5(ASAH1):c.456A>C (p.Lys152Asn)	rs200455852	0.00004
NM_000023.4(SGCA):c.293G>A (p.Arg98His)	rs137852621	0.00003
NM_000027.4(AGA):c.319C>T (p.Arg107Ter)	rs765070743	0.00003
NM_000085.5(CLCNKB):c.968+1G>A	rs201204502	0.00003
NM_000098.3(CPT2):c.1511C>T (p.Pro504Leu)	rs368311455	0.00003
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys)	rs144016984	0.00003
NM_000180.4(GUCY2D):c.307G>A (p.Glu103Lys)	rs61749668	0.00003
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys)	rs104894639	0.00003
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser)	rs143947056	0.00003
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter)	rs17215500	0.00003
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)	rs3218716	0.00003
NM_000271.5(NPC1):c.2474A>G (p.Tyr825Cys)	rs550562774	0.00003
NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met)	rs121908363	0.00003
NM_000512.5(GALNS):c.884C>T (p.Ser295Phe)	rs149239881	0.00003
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr)	rs730882109	0.00003
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)	rs137929307	0.00003
NM_000527.5(LDLR):c.343C>T (p.Arg115Cys)	rs774723292	0.00003
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys)	rs768563000	0.00003
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys)	rs368657165	0.00003
NM_000540.3(RYR1):c.1589G>A (p.Arg530His)	rs111888148	0.00003
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp)	rs104894718	0.00003
NM_001081.4(CUBN):c.6088C>T (p.Arg2030Ter)	rs374417889	0.00003
NM_001126108.2(SLC12A3):c.1844C>T (p.Ser615Leu)	rs779160677	0.00003
NM_001171.6(ABCC6):c.3904G>A (p.Gly1302Arg)	rs63749856	0.00003
NM_001171.6(ABCC6):c.4016G>A (p.Arg1339His)	rs63750622	0.00003
NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys)	rs398122965	0.00003
NM_001329943.3(KIAA0586):c.2536del (p.Val846fs)	rs1307758243	0.00003
NM_001360.3(DHCR7):c.461C>G (p.Thr154Arg)	rs143312232	0.00003
NM_001369.3(DNAH5):c.10615C>T (p.Arg3539Cys)	rs1304504006	0.00003
NM_001370658.1(BTD):c.908A>G (p.His303Arg)	rs397507176	0.00003
NM_002206.3(ITGA7):c.1810C>T (p.Arg604Ter)	rs141365537	0.00003
NM_002529.4(NTRK1):c.1354+1G>T	rs764771898	0.00003
NM_002693.3(POLG):c.911T>G (p.Leu304Arg)	rs121918044	0.00003
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu)	rs370228071	0.00003
NM_004004.6(GJB2):c.298C>T (p.His100Tyr)	rs143343083	0.00003
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs)	rs773528125	0.00003
NM_004453.4(ETFDH):c.1366C>T (p.Pro456Ser)	rs751821289	0.00003
NM_006005.3(WFS1):c.2206G>A (p.Gly736Ser)	rs71532864	0.00003
NM_007272.3(CTRC):c.649G>A (p.Gly217Ser)	rs202058123	0.00003
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter)	rs202199411	0.00003
NM_014625.4(NPHS2):c.714G>T (p.Arg238Ser)	rs748812981	0.00003
NM_015047.3(EMC1):c.1806T>G (p.Tyr602Ter)	rs372717647	0.00003
NM_015102.5(NPHP4):c.2611+1G>A	rs374141736	0.00003
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys)	rs121918549	0.00003
NM_015713.5(RRM2B):c.329G>A (p.Arg110His)	rs267607025	0.00003
NM_018116.4(MSTO1):c.887_888del (p.Leu296fs)	rs752022363	0.00003
NM_020533.3(MCOLN1):c.304C>T (p.Arg102Ter)	rs121908373	0.00003
NM_025137.4(SPG11):c.2834+1G>T	rs312262749	0.00003
NM_025152.3(NUBPL):c.313G>T (p.Asp105Tyr)	rs397515440	0.00003
NM_030773.4(TUBB1):c.952C>T (p.Arg318Trp)	rs121918555	0.00003
NM_052988.5(CDK10):c.609-1G>A	rs767176610	0.00003
NM_054012.4(ASS1):c.970G>A (p.Gly324Ser)	rs121908639	0.00003
NM_152416.4(NDUFAF6):c.532G>C (p.Ala178Pro)	rs201088736	0.00003
NM_153700.2(STRC):c.4701+1G>A	rs199839039	0.00003
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser)	rs386834180	0.00003
NM_153704.6(TMEM67):c.1645C>T (p.Arg549Cys)	rs747025617	0.00003
NM_153766.3(KCNJ1):c.89G>A (p.Cys30Tyr)	rs764078087	0.00003
NM_000017.4(ACADS):c.164C>T (p.Pro55Leu)	rs147442301	0.00002
NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp)	rs772226819	0.00002
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln)	rs587780290	0.00002
NM_000082.4(ERCC8):c.600dup (p.Ile201fs)	rs1468231556	0.00002
NM_000089.4(COL1A2):c.2755G>A (p.Gly919Ser)	rs749621872	0.00002
NM_000132.4(F8):c.5123G>A (p.Arg1708His)	rs111033614	0.00002
NM_000151.4(G6PC1):c.648G>T (p.Leu216=)	rs80356484	0.00002
NM_000256.3(MYBPC3):c.1224-52G>A	rs786204336	0.00002
NM_000257.4(MYH7):c.2348G>A (p.Arg783His)	rs397516142	0.00002
NM_000257.4(MYH7):c.958G>A (p.Val320Met)	rs376897125	0.00002
NM_000260.4(MYO7A):c.634C>T (p.Arg212Cys)	rs121965080	0.00002
NM_000263.4(NAGLU):c.1811C>T (p.Pro604Leu)	rs751203469	0.00002
NM_000303.3(PMM2):c.620T>C (p.Phe207Ser)	rs532870929	0.00002
NM_000334.4(SCN4A):c.4364T>C (p.Ile1455Thr)	rs377176361	0.00002
NM_000350.3(ABCA4):c.179C>T (p.Ala60Val)	rs55732384	0.00002
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)	rs730882096	0.00002
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile)	rs193922797	0.00002
NM_000540.3(RYR1):c.7291G>A (p.Asp2431Asn)	rs193922810	0.00002
NM_001008216.2(GALE):c.151C>T (p.Arg51Trp)	rs780517804	0.00002
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu)	rs137854550	0.00002
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala)	rs179363900	0.00002
NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp)	rs202218890	0.00002
NM_001171.6(ABCC6):c.3491G>A (p.Arg1164Gln)	rs63750457	0.00002
NM_002693.3(POLG):c.2665G>A (p.Ala889Thr)	rs763393580	0.00002
NM_003322.6(TULP1):c.1199G>A (p.Arg400Gln)	rs748972748	0.00002
NM_004092.4(ECHS1):c.817A>G (p.Lys273Glu)	rs565090080	0.00002
NM_005055.5(RAPSN):c.-210A>G	rs786200905	0.00002
NM_005957.5(MTHFR):c.973C>T (p.Arg325Cys)	rs371085894	0.00002
NM_006623.4(PHGDH):c.1129G>A (p.Gly377Ser)	rs267606948	0.00002
NM_015047.3(EMC1):c.245C>T (p.Thr82Met)	rs869320625	0.00002
NM_015631.6(TCTN3):c.3G>A (p.Met1Ile)	rs745688122	0.00002
NM_015836.4(WARS2):c.833T>G (p.Val278Gly)	rs765904496	0.00002
NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys)	rs119468004	0.00002
NM_020247.5(COQ8A):c.901C>T (p.Arg301Trp)	rs140246430	0.00002
NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp)	rs121908110	0.00002
NM_025207.5(FLAD1):c.408C>A (p.Cys136Ter)	rs1057518160	0.00002
NM_054012.4(ASS1):c.836G>A (p.Arg279Gln)	rs371265106	0.00002
NM_138413.4(HOGA1):c.818T>C (p.Ile273Thr)	rs758795356	0.00002
NM_147127.5(EVC2):c.2620C>T (p.Arg874Ter)	rs760382778	0.00002
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys)	rs59885338	0.00002
NM_206933.4(USH2A):c.15178T>C (p.Ser5060Pro)	rs752377040	0.00002
NC_000011.10:g.47335082_47335083del	rs397515990	0.00001
NM_000018.4(ACADVL):c.364A>G (p.Asn122Asp)	rs1057520088	0.00001
NM_000047.3(ARSL):c.949G>A (p.Gly317Arg)	rs1178912922	0.00001
NM_000053.4(ATP7B):c.2297C>T (p.Thr766Met)	rs121907997	0.00001
NM_000053.4(ATP7B):c.3914T>C (p.Leu1305Pro)	rs377144951	0.00001
NM_000055.4(BCHE):c.1240C>T (p.Arg414Cys)	rs745364489	0.00001
NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs)	rs80359380	0.00001
NM_000059.4(BRCA2):c.517-2A>G	rs81002858	0.00001
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp)	rs80359075	0.00001
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys)	rs80359152	0.00001
NM_000069.3(CACNA1S):c.1583G>T (p.Arg528Leu)	rs80338777	0.00001
NM_000083.3(CLCN1):c.1471+1G>A	rs375596425	0.00001
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln)	rs80356702	0.00001
NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr)	rs74315295	0.00001
NM_000098.3(CPT2):c.370C>T (p.Arg124Ter)	rs201065226	0.00001
NM_000128.4(F11):c.166T>C (p.Cys56Arg)	rs121965069	0.00001
NM_000128.4(F11):c.965C>T (p.Thr322Ile)	rs281875269	0.00001
NM_000132.4(F8):c.1569G>T (p.Leu523=)	rs782733685	0.00001
NM_000132.4(F8):c.6623A>G (p.Gln2208Arg)	rs782198570	0.00001
NM_000143.4(FH):c.320A>C (p.Asn107Thr)	rs121913121	0.00001
NM_000152.5(GAA):c.1826dup (p.Tyr609Ter)	rs786204727	0.00001
NM_000153.4(GALC):c.749T>C (p.Ile250Thr)	rs886039569	0.00001
NM_000166.6(GJB1):c.490C>T (p.Arg164Trp)	rs139643362	0.00001
NM_000169.3(GLA):c.1087C>T (p.Arg363Cys)	rs797044776	0.00001
NM_000199.5(SGSH):c.545G>A (p.Arg182His)	rs372911015	0.00001
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln)	rs199472815	0.00001
NM_000218.3(KCNQ1):c.477+1G>A	rs762814879	0.00001
NM_000218.3(KCNQ1):c.905C>T (p.Ala302Val)	rs193922365	0.00001
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr)	rs397516103	0.00001
NM_000257.4(MYH7):c.4135G>A (p.Ala1379Thr)	rs397516202	0.00001
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp)	rs145213771	0.00001
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln)	rs397516209	0.00001
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter)	rs111033201	0.00001
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His)	rs111033437	0.00001
NM_000263.4(NAGLU):c.1006G>T (p.Glu336Ter)	rs376090795	0.00001
NM_000263.4(NAGLU):c.1597C>T (p.Arg533Ter)	rs1244655820	0.00001
NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs)	rs756815030	0.00001
NM_000274.4(OAT):c.800C>T (p.Thr267Ile)	rs386833618	0.00001
NM_000334.4(SCN4A):c.4484T>C (p.Ile1495Thr)	rs1318966106	0.00001
NM_000348.4(SRD5A2):c.534C>A (p.Tyr178Ter)	rs1200261940	0.00001
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter)	rs61753046	0.00001
NM_000352.6(ABCC8):c.2116+2T>C	rs786204676	0.00001
NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp)	rs863225280	0.00001
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln)	rs397516354	0.00001
NM_000369.5(TSHR):c.122G>C (p.Cys41Ser)	rs121908869	0.00001
NM_000434.4(NEU1):c.779T>A (p.Phe260Tyr)	rs104893977	0.00001
NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys)	rs777751303	0.00001
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys)	rs775267348	0.00001
NM_000478.6(ALPL):c.350A>G (p.Tyr117Cys)	rs1374504617	0.00001
NM_000478.6(ALPL):c.352C>A (p.Leu118Met)	rs1284058976	0.00001
NM_000478.6(ALPL):c.542C>T (p.Ser181Leu)	rs199590449	0.00001
NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys)	rs28942071	0.00001
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)	rs121908043	0.00001
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met)	rs368562025	0.00001
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr)	rs730882102	0.00001
NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser)	rs758194385	0.00001
NM_000527.5(LDLR):c.2167G>T (p.Glu723Ter)	rs1057516127	0.00001
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)	rs730882078	0.00001
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys)	rs769383881	0.00001
NM_000527.5(LDLR):c.631C>T (p.His211Tyr)	rs771917370	0.00001
NM_000527.5(LDLR):c.761A>C (p.Gln254Pro)	rs879254667	0.00001
NM_000527.5(LDLR):c.788A>G (p.Asp263Gly)	rs141681167	0.00001
NM_000540.3(RYR1):c.14210G>A (p.Arg4737Gln)	rs193922868	0.00001
NM_000540.3(RYR1):c.14645C>T (p.Thr4882Met)	rs193922884	0.00001
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr)	rs118192158	0.00001
NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe)	rs193922781	0.00001
NM_000540.3(RYR1):c.7361G>A (p.Arg2454His)	rs118192122	0.00001
NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys)	rs28933397	0.00001
NM_000540.3(RYR1):c.8026C>T (p.Arg2676Trp)	rs193922826	0.00001
NM_000546.6(TP53):c.473G>A (p.Arg158His)	rs587782144	0.00001
NM_000642.3(AGL):c.664+3A>G	rs370792293	0.00001
NM_000781.3(CYP11A1):c.358del (p.Arg120fs)	rs1287871034	0.00001
NM_001005273.3(CHD3):c.5007_5008del (p.Asp1671fs)	rs967826828	0.00001
NM_001009944.3(PKD1):c.6643C>T (p.Arg2215Trp)	rs752793757	0.00001
NM_001042492.3(NF1):c.2998C>T (p.Arg1000Cys)	rs367684252	0.00001
NM_001042492.3(NF1):c.6148G>T (p.Val2050Phe)	rs1300330804	0.00001
NM_001080.3(ALDH5A1):c.1226G>A (p.Gly409Asp)	rs118203984	0.00001
NM_001111.5(ADAR):c.2433_2434del (p.Ala813fs)	rs779357448	0.00001
NM_001113378.2(FANCI):c.1597C>T (p.Arg533Ter)	rs1347292940	0.00001
NM_001171.6(ABCC6):c.4198G>A (p.Glu1400Lys)	rs63751241	0.00001
NM_001292063.2(OTOG):c.6523C>T (p.Arg2175Ter)	rs397514608	0.00001
NM_001360.3(DHCR7):c.326T>C (p.Leu109Pro)	rs121912195	0.00001
NM_001360.3(DHCR7):c.651C>A (p.Tyr217Ter)	rs749076525	0.00001
NM_001692.4(ATP6V1B1):c.469C>T (p.Arg157Cys)	rs782500780	0.00001
NM_001737.5(C9):c.577del (p.Tyr193fs)	rs778518669	0.00001
NM_001844.5(COL2A1):c.1078G>A (p.Gly360Ser)	rs757504416	0.00001
NM_001845.6(COL4A1):c.1657G>A (p.Gly553Ser)	rs370670458	0.00001
NM_001846.4(COL4A2):c.1776+1G>A	rs886039602	0.00001
NM_001846.4(COL4A2):c.4084G>A (p.Gly1362Arg)	rs757047420	0.00001
NM_001876.4(CPT1A):c.727C>T (p.Arg243Ter)	rs779893091	0.00001
NM_001942.4(DSG1):c.133C>T (p.Arg45Ter)	rs1182196436	0.00001
NM_002225.5(IVD):c.1112T>C (p.Val371Ala)	rs754600862	0.00001
NM_002335.4(LRP5):c.1067C>T (p.Ser356Leu)	rs1158745675	0.00001
NM_002476.2(MYL4):c.234del (p.Cys78fs)	rs776650813	0.00001
NM_002522.4(NPTX1):c.1165G>A (p.Gly389Arg)	rs1466750124	0.00001
NM_002633.3(PGM1):c.878G>A (p.Arg293Gln)	rs1466885233	0.00001
NM_002693.3(POLG):c.2869G>C (p.Ala957Pro)	rs121918051	0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met)	rs121918457	0.00001
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp)	rs397507541	0.00001
NM_002834.5(PTPN11):c.1529A>G (p.Gln510Arg)	rs121918470	0.00001
NM_002834.5(PTPN11):c.166A>G (p.Ile56Val)	rs397507504	0.00001
NM_002834.5(PTPN11):c.175A>G (p.Thr59Ala)	rs886043790	0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)	rs121918459	0.00001
NM_002878.4(RAD51D):c.803G>A (p.Trp268Ter)	rs750219200	0.00001
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln)	rs772551056	0.00001
NM_003119.4(SPG7):c.1170del (p.Arg391fs)	rs1216905667	0.00001
NM_003119.4(SPG7):c.1A>G (p.Met1Val)	rs794726906	0.00001
NM_003126.4(SPTA1):c.82C>T (p.Arg28Cys)	rs121918642	0.00001
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile)	rs111033295	0.00001
NM_004092.4(ECHS1):c.160C>T (p.Arg54Cys)	rs758723288	0.00001
NM_004092.4(ECHS1):c.176A>G (p.Asn59Ser)	rs201865375	0.00001
NM_004621.6(TRPC6):c.524G>A (p.Arg175Gln)	rs1451194842	0.00001
NM_004700.4(KCNQ4):c.140T>C (p.Leu47Pro)	rs1271250198	0.00001
NM_004855.5(PIGB):c.212G>A (p.Arg71Gln)	rs369838467	0.00001
NM_004863.4(SPTLC2):c.547C>T (p.Arg183Trp)	rs775437084	0.00001
NM_005159.5(ACTC1):c.268C>T (p.His90Tyr)	rs121912676	0.00001
NM_005188.4(CBL):c.1259G>A (p.Arg420Gln)	rs267606708	0.00001
NM_005373.3(MPL):c.317C>T (p.Pro106Leu)	rs750046020	0.00001
NM_005559.4(LAMA1):c.3099G>A (p.Trp1033Ter)	rs769655038	0.00001
NM_005609.4(PYGM):c.1709G>A (p.Arg570Gln)	rs143550601	0.00001
NM_005993.5(TBCD):c.1423G>A (p.Ala475Thr)	rs775014444	0.00001
NM_005993.5(TBCD):c.967C>T (p.Arg323Ter)	rs773790897	0.00001
NM_006208.3(ENPP1):c.1756G>A (p.Gly586Arg)	rs777367269	0.00001
NM_006618.5(KDM5B):c.1321C>T (p.Arg441Ter)	rs527951173	0.00001
NM_007055.4(POLR3A):c.1114G>A (p.Asp372Asn)	rs267608673	0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)	rs41293459	0.00001
NM_007294.4(BRCA1):c.5407-25T>A	rs758780152	0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)	rs267607048	0.00001
NM_007375.4(TARDBP):c.1009A>G (p.Met337Val)	rs80356730	0.00001
NM_007375.4(TARDBP):c.881G>T (p.Gly294Val)	rs80356721	0.00001
NM_012250.6(RRAS2):c.208G>A (p.Ala70Thr)	rs782457908	0.00001
NM_014336.5(AIPL1):c.465+1G>A	rs887335730	0.00001
NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter)	rs1057517250	0.00001
NM_014712.3(SETD1A):c.4582-2_4582-1del	rs755127868	0.00001
NM_014804.3(KIAA0753):c.1891A>T (p.Lys631Ter)	rs886038200	0.00001
NM_014844.5(TECPR2):c.2495_2498dup (p.Cys834fs)	rs1364819755	0.00001
NM_014845.6(FIG4):c.547C>T (p.Arg183Ter)	rs121908288	0.00001
NM_014874.4(MFN2):c.748C>T (p.Arg250Trp)	rs373107074	0.00001
NM_015046.7(SETX):c.7103C>G (p.Pro2368Arg)	rs1420833435	0.00001
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp)	rs538023671	0.00001
NM_015665.6(AAAS):c.464G>A (p.Arg155His)	rs758440592	0.00001
NM_015713.5(RRM2B):c.686G>T (p.Gly229Val)	rs121918311	0.00001
NM_015915.5(ATL1):c.1246C>T (p.Arg416Cys)	rs387906941	0.00001
NM_015915.5(ATL1):c.1483C>T (p.Arg495Trp)	rs864622269	0.00001
NM_015937.6(PIGT):c.1079G>T (p.Gly360Val)	rs1277383877	0.00001
NM_017570.5(OPLAH):c.3016C>T (p.Gln1006Ter)	rs782331682	0.00001
NM_017739.4(POMGNT1):c.1325G>A (p.Arg442His)	rs150877512	0.00001
NM_017890.5(VPS13B):c.4238T>A (p.Leu1413Ter)	rs765998879	0.00001
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)	rs398123009	0.00001
NM_018480.7(TMEM126B):c.137del (p.Ala46fs)	rs764565613	0.00001
NM_020631.6(PLEKHG5):c.2269G>T (p.Glu757Ter)	rs1199089543	0.00001
NM_021625.5(TRPV4):c.943C>T (p.Arg315Trp)	rs267607143	0.00001
NM_021871.4(FGA):c.1634A>T (p.Glu545Val)	rs121909612	0.00001
NM_022356.4(P3H1):c.640C>T (p.Arg214Ter)	rs200899260	0.00001
NM_022552.5(DNMT3A):c.2063G>A (p.Arg688His)	rs369713081	0.00001
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter)	rs180177100	0.00001
NM_024884.3(L2HGDH):c.1003C>T (p.Arg335Ter)	rs387907013	0.00001
NM_025074.7(FRAS1):c.2570G>T (p.Cys857Phe)	rs1399826348	0.00001
NM_025074.7(FRAS1):c.7551T>A (p.Tyr2517Ter)	rs745597204	0.00001
NM_025137.4(SPG11):c.5398C>T (p.Gln1800Ter)	rs1287370710	0.00001
NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter)	rs567573386	0.00001
NM_032539.5(SLITRK2):c.934A>G (p.Thr312Ala)	rs782072593	0.00001
NM_138413.4(HOGA1):c.221T>G (p.Val74Gly)	rs796052084	0.00001
NM_145207.3(AFG2A):c.1612C>T (p.Arg538Ter)	rs1730088305	0.00001
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter)	rs751356206	0.00001
NM_152393.4(KLHL40):c.1582G>A (p.Glu528Lys)	rs397509419	0.00001
NM_152416.4(NDUFAF6):c.337C>T (p.Arg113Ter)	rs753873681	0.00001
NM_152564.5(VPS13B):c.3427C>T (p.Arg1143Ter)	rs386834080	0.00001
NM_152564.5(VPS13B):c.7528C>T (p.Arg2510Ter)	rs386834107	0.00001
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys)	rs56816490	0.00001
NM_172351.3(CD46):c.175C>T (p.Arg59Ter)	rs121909590	0.00001
NM_172351.3(CD46):c.820_821del (p.Ser274fs)	rs1191117776	0.00001
NM_174936.4(PCSK9):c.103G>T (p.Asp35Tyr)	rs764603059	0.00001
NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp)	rs267607017	0.00001
NM_181882.3(PRX):c.1390C>T (p.Arg464Ter)	rs574861276	0.00001
NM_198253.3(TERT):c.2225G>A (p.Arg742His)	rs727503468	0.00001
NC_000023.11:g.70027902_70027919del	rs397516668
NC_012920.1(MT-ATP6):m.8969G>A	rs794726857
NC_012920.1(MT-ATP6):m.9035T>C	rs1603222000
NC_012920.1(MT-ATP6):m.9176T>C	rs199476135
NC_012920.1(MT-ATP6):m.9185T>C	rs199476138
NC_012920.1(MT-ND1):m.3890G>A	rs587776434
NC_012920.1(MT-ND3):m.10158T>C	rs199476117
NC_012920.1(MT-ND3):m.10197G>A	rs267606891
NC_012920.1(MT-ND5):m.13042G>A	rs267606898
NC_012920.1(MT-ND5):m.13094T>C	rs1603224029
NC_012920.1(MT-ND6):m.14484T>C	rs199476104
NC_012920.1(MT-RNR1):m.1494C>T	rs267606619
NC_012920.1(MT-RNR1):m.1555A>G	rs267606617
NC_012920.1(MT-TA):m.5650G>A	rs121434457
NC_012920.1(MT-TE):m.14674T>C	rs387906421
NC_012920.1(MT-TE):m.14709T>C	rs121434453
NC_012920.1(MT-TF):m.616T>C	rs387906420
NC_012920.1(MT-TH):m.12147G>A	rs121434474
NC_012920.1(MT-TL1):m.3243A>G	rs199474657
NC_012920.1(MT-TL1):m.3291T>C	rs869312463
NC_012920.1(MT-TN):m.5703G>A	rs199476130
NC_012920.1(MT-TN):m.5728T>C	rs199476132
NC_012920.1(MT-TS1):m.7497G>A	rs387906419
NC_012920.1(MT-TT):m.15923A>G	rs1556424691
NC_012920.1(MT-TW):m.5521G>A	rs199474673
NM_000016.6(ACADM):c.346T>G (p.Cys116Gly)	rs875989863
NM_000020.3(ACVRL1):c.1325T>C (p.Val442Ala)	rs2139084277
NM_000021.4(PSEN1):c.786G>C (p.Leu262Phe)	rs63750248
NM_000033.4(ABCD1):c.1900G>A (p.Ala634Thr)	rs782041940
NM_000033.4(ABCD1):c.323C>T (p.Ser108Leu)	rs2091705631
NM_000033.4(ABCD1):c.839G>A (p.Arg280His)	rs781904944
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs)	rs387906225
NM_000036.3(AMPD1):c.1957C>T (p.Gln653Ter)
NM_000044.6(AR):c.2343G>A (p.Met781Ile)	rs137852589
NM_000051.4(ATM):c.710del (p.Thr237fs)	rs1060501642
NM_000051.4(ATM):c.8622_8624delinsTT (p.Gln2874fs)	rs2547461386
NM_000053.4(ATP7B):c.2009_2015del (p.Ile669_Tyr670insTer)	rs779904655
NM_000057.4(BLM):c.320dup (p.Leu107fs)	rs781221411
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs)	rs80359351
NM_000059.4(BRCA2):c.1755_1759del (p.Lys585fs)	rs80359302
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs)	rs80359439
NM_000059.4(BRCA2):c.5542del (p.Ser1848fs)	rs80359519
NM_000059.4(BRCA2):c.6944_6947del (p.Ile2315fs)	rs80359629
NM_000059.4(BRCA2):c.8168A>G (p.Asp2723Gly)	rs41293513
NM_000059.4(BRCA2):c.8243G>A (p.Gly2748Asp)	rs80359071
NM_000059.4(BRCA2):c.8487+3A>G	rs81002806
NM_000070.3(CAPN3):c.598_612del (p.Phe200_Leu204del)	rs727503837
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[3] (p.Ala4_Pro11dup)	rs587780668
NM_000077.5(CDKN2A):c.167G>T (p.Ser56Ile)	rs104894109
NM_000088.4(COL1A1):c.2848G>A (p.Gly950Arg)	rs72653160
NM_000089.4(COL1A2):c.1423G>A (p.Gly475Ser)	rs755058199
NM_000098.3(CPT2):c.1239_1240del (p.Lys414fs)	rs397509431
NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del)	rs80358233
NM_000127.3(EXT1):c.1021A>G (p.Arg341Gly)	rs1554580149
NM_000132.4(F8):c.3637dup (p.Ile1213fs)	rs387906450
NM_000135.4(FANCA):c.1A>G (p.Met1Val)	rs772751654
NM_000136.3(FANCC):c.355_360delinsA (p.Ser119fs)	rs587779904
NM_000138.5(FBN1):c.1589-1217G>T	rs1342142271
NM_000138.5(FBN1):c.3302A>G (p.Tyr1101Cys)	rs1555398625
NM_000138.5(FBN1):c.4222T>C (p.Cys1408Arg)	rs397515802
NM_000138.5(FBN1):c.5183C>T (p.Ala1728Val)	rs1131691804
NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys)	rs794728334
NM_000138.5(FBN1):c.640G>A (p.Gly214Ser)	rs794728162
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys)	rs121913478
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys)	rs28933068
NM_000151.4(G6PC1):c.258G>A (p.Trp86Ter)	rs142917638
NM_000151.4(G6PC1):c.563-3C>G	rs1597991608
NM_000152.5(GAA):c.1465G>A (p.Asp489Asn)	rs398123169
NM_000152.5(GAA):c.1880C>T (p.Ser627Phe)	rs1024137874
NM_000152.5(GAA):c.2297A>C (p.Tyr766Ser)	rs144016984
NM_000152.5(GAA):c.883C>A (p.His295Asn)	rs751639773
NM_000155.4(GALT):c.292G>C (p.Asp98His)	rs111033670
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro)	rs421016
NM_000157.4(GBA1):c.635C>G (p.Ser212Ter)	rs1671872221
NM_000157.4(GBA1):c.827C>T (p.Ser276Phe)	rs755512507
NM_000161.3(GCH1):c.631_632del (p.Met211fs)	rs886039379
NM_000169.3(GLA):c.1064dup (p.Asn355fs)
NM_000169.3(GLA):c.1132T>C (p.Cys378Arg)	rs869312230
NM_000195.5(HPS1):c.1189del (p.Gln397fs)	rs281865084
NM_000202.8(IDS):c.359C>T (p.Pro120Leu)
NM_000202.8(IDS):c.796C>T (p.Pro266Ser)
NM_000218.3(KCNQ1):c.1685+1G>A	rs794728531
NM_000222.3(KIT):c.2447A>T (p.Asp816Val)	rs121913507
NM_000232.5(SGCB):c.-10_22dup (p.Ala8fs)	rs1553940963
NM_000238.4(KCNH2):c.1744C>T (p.Arg582Cys)	rs121912508
NM_000238.4(KCNH2):c.1801G>A (p.Gly601Ser)	rs199472936
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)	rs61732874
NM_000251.3(MSH2):c.1511-2A>G	rs267607962
NM_000252.3(MTM1):c.114del (p.Pro39fs)	rs2522123139
NM_000256.3(MYBPC3):c.2905+1G>A	rs397515991
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr)	rs397516088
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg)	rs121913632
NM_000260.4(MYO7A):c.2003G>A (p.Arg668His)	rs368575149
NM_000260.4(MYO7A):c.6051+1G>A	rs1403288739
NM_000260.4(MYO7A):c.689C>T (p.Ala230Val)	rs797044512
NM_000263.4(NAGLU):c.103C>T (p.Leu35Phe)	rs2143075651
NM_000274.4(OAT):c.1124G>C (p.Gly375Ala)	rs121965045
NM_000277.3(PAH):c.527G>T (p.Arg176Leu)	rs74486803
NM_000278.5(PAX2):c.239C>T (p.Pro80Leu)	rs1554856032
NM_000282.4(PCCA):c.412G>A (p.Ala138Thr)	rs202247814
NM_000284.4(PDHA1):c.380G>A (p.Arg127Gln)	rs2063162114
NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser)	rs1555933963
NM_000303.3(PMM2):c.157C>T (p.Gln53Ter)	rs1057520708
NM_000303.3(PMM2):c.26G>A (p.Cys9Tyr)	rs104894532
NM_000304.4(PMP22):c.215C>G (p.Ser72Trp)	rs104894621
NM_000310.4(PPT1):c.398del (p.Met133fs)	rs386833644
NM_000314.8(PTEN):c.1021T>G (p.Phe341Val)	rs1554825652
NM_000314.8(PTEN):c.331T>C (p.Trp111Arg)	rs398123321
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter)	rs121909219
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu)	rs587782350
NM_000330.4(RS1):c.349C>T (p.Gln117Ter)	rs199469696
NM_000342.4(SLC4A1):c.1242del (p.Phe414fs)
NM_000352.6(ABCC8):c.2693G>A (p.Trp898Ter)	rs1382448285
NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del)	rs151344624
NM_000368.5(TSC1):c.144T>G (p.Tyr48Ter)	rs2132269028
NM_000368.5(TSC1):c.2625+367A>G	rs1564474542
NM_000372.5(TYR):c.272G>A (p.Cys91Tyr)	rs137854890
NM_000384.3(APOB):c.10848del (p.Gly3617fs)	rs982371659
NM_000384.3(APOB):c.8075_8076dup (p.Leu2693fs)	rs2103354801
NM_000384.3(APOB):c.9115_9119del (p.Phe3039fs)	rs1215189537
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly)	rs78478128
NM_000432.4(MYL2):c.64G>A (p.Glu22Lys)	rs104894368
NM_000435.3(NOTCH3):c.1790G>C (p.Cys597Ser)	rs2046888772
NM_000435.3(NOTCH3):c.224G>C (p.Arg75Pro)	rs145069047
NM_000458.4(HNF1B):c.704G>A (p.Arg235Gln)	rs2033752564
NM_000478.6(ALPL):c.1417G>A (p.Gly473Ser)	rs1644755212
NM_000478.6(ALPL):c.395C>T (p.Ala132Val)	rs1558548925
NM_000478.6(ALPL):c.978CTT[2] (p.Phe328del)	rs753338851
NM_000492.3(CFTR):c.1210-12T[5]	rs1805177
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)	rs113993960
NM_000492.4(CFTR):c.350G>A (p.Arg117His)	rs78655421
NM_000527.5(LDLR):c.1723C>T (p.Leu575Phe)	rs1205480064
NM_000527.5(LDLR):c.283T>G (p.Cys95Gly)	rs879254456
NM_000527.5(LDLR):c.417C>G (p.Asp139Glu)	rs537484504
NM_000527.5(LDLR):c.440C>T (p.Thr147Ile)	rs879254524
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu)	rs121908028
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)	rs2228671
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg)	rs140241383
NM_000527.5(LDLR):c.881_882del (p.Lys294fs)	rs879254704
NM_000528.4(MAN2B1):c.1383C>G (p.Tyr461Ter)	rs775200333
NM_000528.4(MAN2B1):c.1527+1G>T	rs1322313985
NM_000528.4(MAN2B1):c.1928G>A (p.Trp643Ter)	rs1599344532
NM_000528.4(MAN2B1):c.426del (p.Val143fs)	rs2024205685
NM_000530.8(MPZ):c.106A>T (p.Arg36Trp)	rs864622732
NM_000531.6(OTC):c.473C>T (p.Pro158Leu)	rs2068485732
NM_000531.6(OTC):c.617T>G (p.Met206Arg)	rs72558412
NM_000531.6(OTC):c.674C>T (p.Pro225Leu)	rs67120076
NM_000540.3(RYR1):c.12063_12064dup (p.Met4022fs)	rs1419938249
NM_000540.3(RYR1):c.14696G>A (p.Gly4899Glu)	rs118192183
NM_000540.3(RYR1):c.7304G>A (p.Arg2435His)	rs28933396
NM_000540.3(RYR1):c.982C>T (p.Arg328Trp)	rs193922762
NM_000546.6(TP53):c.440T>A (p.Val147Asp)	rs1453167097
NM_000546.6(TP53):c.672+1G>A	rs863224499
NM_000548.5(TSC2):c.1362-10C>A	rs45446697
NM_000548.5(TSC2):c.4351dup (p.Arg1451fs)	rs397514939
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu)	rs61749370
NM_000558.5(HBA1):c.262C>T (p.His88Tyr)	rs28928876
NM_000642.3(AGL):c.1384del (p.Trp461_Val462insTer)	rs786204678
NM_000810.4(GABRA5):c.880G>T (p.Val294Phe)	rs1595438243
NM_000834.5(GRIN2B):c.2252T>C (p.Ile751Thr)	rs876661055
NM_000891.3(KCNJ2):c.161G>T (p.Cys54Phe)	rs199473650
NM_000944.5(PPP3CA):c.702C>A (p.Asp234Glu)	rs780035527
NM_001002295.2(GATA3):c.896G>A (p.Arg299Gln)	rs2131501118
NM_001002755.4(NFU1):c.545G>A (p.Arg182Gln)	rs1281276965
NM_001003800.2(BICD2):c.2081G>A (p.Arg694His)	rs2131499515
NM_001005242.3(PKP2):c.409del (p.Glu137fs)	rs2541342647
NM_001007527.2(LMBRD2):c.1448G>A (p.Arg483His)	rs2111857835
NM_001009944.3(PKD1):c.10348G>T (p.Glu3450Ter)	rs780009030
NM_001009944.3(PKD1):c.11524T>C (p.Trp3842Arg)	rs1057518959
NM_001009944.3(PKD1):c.11773G>T (p.Glu3925Ter)	rs1425693814
NM_001009944.3(PKD1):c.1201+1G>A	rs1596588978
NM_001009944.3(PKD1):c.12682C>T (p.Arg4228Ter)	rs199476095
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)	rs1616940
NM_001009944.3(PKD1):c.3716ACA[1] (p.Asn1240del)	rs1567202750
NM_001009944.3(PKD1):c.6394TTC[1] (p.Phe2133del)	rs1555454460
NM_001009944.3(PKD1):c.7927C>T (p.Arg2643Cys)	rs1452322332
NM_001009944.3(PKD1):c.8161+1G>T	rs2544757259
NM_001009944.3(PKD1):c.9856CTC[1] (p.Leu3287del)	rs2092020811
NM_001018005.2(TPM1):c.475G>A (p.Asp159Asn)	rs397516373
NM_001031725.6(DDX59):c.185del (p.Phe62fs)	rs773114666
NM_001033044.4(GLUL):c.1A>G (p.Met1Val)	rs1131691970
NM_001035.3(RYR2):c.12446A>G (p.Tyr4149Cys)	rs1234449785
NM_001039141.3(TRIOBP):c.1342C>T (p.Arg448Ter)	rs773152243
NM_001040113.2(MYH11):c.5819del (p.Pro1940fs)	rs747392139
NM_001040716.2(PC):c.2253del (p.Cys752fs)	rs2495444900
NM_001040716.2(PC):c.796T>G (p.Ser266Ala)	rs113994142
NM_001042424.3(NSD2):c.3295G>A (p.Glu1099Lys)	rs772470710
NM_001042424.3(NSD2):c.4028del (p.Pro1343fs)	rs752037034
NM_001042492.3(NF1):c.2560C>T (p.Gln854Ter)	rs1555614261
NM_001042492.3(NF1):c.2991-2A>G	rs1555614495
NM_001042492.3(NF1):c.3104T>C (p.Met1035Thr)	rs137854553
NM_001042492.3(NF1):c.3250C>T (p.Pro1084Ser)	rs1555614848
NM_001042492.3(NF1):c.3277G>A (p.Val1093Met)	rs1555614858
NM_001042492.3(NF1):c.3610C>G (p.Arg1204Gly)	rs199474732
NM_001042492.3(NF1):c.3638del (p.Thr1213fs)
NM_001042492.3(NF1):c.4266T>G (p.Tyr1422Ter)	rs2151462060
NM_001042631.3(SDHAF1):c.170G>A (p.Gly57Glu)	rs1976655209
NM_001046.3(SLC12A2):c.3312del (p.Phe1104fs)	rs1763801693
NM_001079802.2(FKTN):c.642dup (p.Asp215Ter)	rs398123557
NM_001083962.2(TCF4):c.1726C>T (p.Arg576Ter)	rs1555710726
NM_001110556.2(FLNA):c.310C>G (p.Leu104Val)	rs2522771333
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp)	rs28934907
NM_001110792.2(MECP2):c.941C>T (p.Pro314Leu)	rs61749723
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp)	rs61751444
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu)	rs606231451
NM_001114753.3(ENG):c.1453G>T (p.Glu485Ter)	rs997074986
NM_001114753.3(ENG):c.219G>A (p.Thr73=)	rs755348996
NM_001122630.2(CDKN1C):c.217_230del (p.Ser73fs)
NM_001122681.2(SH3BP2):c.1253C>A (p.Pro418His)	rs121909146
NM_001127178.3(PIGG):c.342dup (p.Thr115fs)	rs886041687
NM_001127217.3(SMAD9):c.812del (p.Gln271fs)
NM_001127222.2(CACNA1A):c.2039_2040del (p.Gln680fs)	rs1064794262
NM_001127222.2(CACNA1A):c.4042C>T (p.Arg1348Trp)	rs1064794858
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His)	rs121908216
NM_001127222.2(CACNA1A):c.889G>A (p.Gly297Arg)	rs1168625480
NM_001130438.3(SPTAN1):c.6241AAG[2] (p.Lys2083del)	rs1858669268
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3])	rs587784440
NM_001130987.2(DYSF):c.4636A>C (p.Thr1546Pro)	rs2094765878
NM_001142966.3(GREB1L):c.3970-20A>G	rs1353636049
NM_001163435.3(TBCK):c.1370dup (p.Asn457fs)	rs746860249
NM_001171.6(ABCC6):c.1777C>T (p.Gln593Ter)
NM_001190737.2(NFIB):c.265C>T (p.Arg89Ter)	rs764333096
NM_001195263.2(PDZD7):c.2089del (p.Ala697fs)	rs1055318738
NM_001195263.2(PDZD7):c.2107del (p.Ser703fs)	rs397516633
NM_001195263.2(PDZD7):c.925C>T (p.Arg309Ter)	rs771163176
NM_001197104.2(KMT2A):c.3460C>T (p.Arg1154Trp)	rs1555038090
NM_001199397.3(NEK1):c.2241del (p.Ala750fs)
NM_001256317.3(TMPRSS3):c.323-6G>A	rs374793617
NM_001273.5(CHD4):c.2975G>A (p.Arg992Gln)
NM_001291303.3(FAT4):c.7504G>T (p.Glu2502Ter)	rs2530889102
NM_001323289.2(CDKL5):c.163_166del (p.Glu55fs)	rs267608433
NM_001323289.2(CDKL5):c.71A>G (p.Tyr24Cys)	rs1922801133
NM_001330260.2(SCN8A):c.2548C>T (p.Arg850Ter)	rs1555225782
NM_001330288.2(SMARCC2):c.574C>T (p.Arg192Ter)	rs1876739249
NM_001348716.2(KDM6B):c.445C>T (p.Arg149Ter)	rs1419917079
NM_001349338.3(FOXP1):c.1541G>A (p.Arg514His)	rs797045586
NM_001355436.2(SPTB):c.189G>A (p.Trp63Ter)	rs2503227366
NM_001356.5(DDX3X):c.1084C>T (p.Arg362Cys)	rs797045026
NM_001356.5(DDX3X):c.1423C>T (p.Arg475Cys)	rs1064794574
NM_001360.3(DHCR7):c.964-1G>C	rs138659167
NM_001360016.2(G6PD):c.383T>G (p.Leu128Arg)	rs78365220
NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs)	rs530719719
NM_001368894.2(PAX6):c.664C>T (p.Arg222Trp)	rs757259413
NM_001369.3(DNAH5):c.3598+2T>C	rs981267400
NM_001370100.5(ZMYND11):c.876_882del (p.Phe293fs)	rs2539906008
NM_001375380.1(EBF3):c.422A>G (p.Tyr141Cys)	rs1057519519
NM_001376571.1(MADD):c.2309dup (p.Asn770fs)	rs767019430
NM_001378183.1(PIEZO2):c.4798C>T (p.Arg1600Ter)	rs886039822
NM_001378615.1(CC2D2A):c.4465_4468del (p.Asp1489fs)	rs797045437
NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe)	rs62625014
NM_001399.5(EDA):c.754C>T (p.His252Tyr)
NM_001558.4(IL10RA):c.493C>T (p.Arg165Ter)
NM_001613.4(ACTA2):c.353G>A (p.Arg118Gln)	rs112602953
NM_001614.5(ACTG1):c.353A>T (p.Lys118Met)	rs104894544
NM_001614.5(ACTG1):c.721G>A (p.Glu241Lys)	rs267606631
NM_001843.4(CNTN1):c.1470_1471del (p.Gly491fs)	rs2499488629
NM_001844.5(COL2A1):c.1267G>A (p.Gly423Ser)	rs2540151788
NM_001844.5(COL2A1):c.2059G>A (p.Gly687Ser)	rs1939189846
NM_001844.5(COL2A1):c.519del (p.Gly174fs)	rs1592235124
NM_001845.6(COL4A1):c.1111G>A (p.Gly371Arg)	rs1386813633
NM_001854.4(COL11A1):c.2862+5G>A	rs1661827915
NM_001943.5(DSG2):c.2620del (p.Thr874fs)	rs755243947
NM_001943.5(DSG2):c.2955del (p.Val986fs)	rs1064794709
NM_002016.2(FLG):c.10051_10054del (p.Asp3351fs)	rs746608568
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter)	rs61816761
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs)	rs558269137
NM_002016.2(FLG):c.7003dup (p.Gln2335fs)	rs1199963642
NM_002074.5(GNB1):c.233A>G (p.Lys78Arg)	rs869312823
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)	rs752746786
NM_002074.5(GNB1):c.388G>A (p.Glu130Lys)	rs1553194155
NM_002335.4(LRP5):c.2672dup (p.Asp891fs)	rs2098660984
NM_002470.4(MYH3):c.2015G>A (p.Arg672His)	rs121913617
NM_002474.3(MYH11):c.3757AAG[3] (p.Lys1256del)	rs730880147
NM_002480.3(PPP1R12A):c.3092A>T (p.Ter1031Leu)	rs1565731811
NM_002585.4(PBX1):c.388del (p.Ala130fs)
NM_002633.3(PGM1):c.1378_1379del (p.Ala461fs)	rs763428801
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg)	rs886037952
NM_002739.5(PRKCG):c.188G>T (p.Gly63Val)	rs386134159
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val)	rs397507547
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly)	rs121918461
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)	rs397507520
NM_002834.5(PTPN11):c.772G>A (p.Glu258Lys)	rs1279770165
NM_002834.5(PTPN11):c.793C>G (p.Arg265Gly)	rs766531368
NM_002857.4(PEX19):c.577A>T (p.Lys193Ter)	rs2525310933
NM_003104.6(SORD):c.757del (p.Ala253fs)	rs55901542
NM_003108.4(SOX11):c.31G>T (p.Glu11Ter)
NM_003119.4(SPG7):c.1031G>A (p.Gly344Asp)
NM_003119.4(SPG7):c.1450-1_1457del	rs768823392
NM_003238.6(TGFB2):c.576_577del (p.Arg193fs)	rs1064796256
NM_003239.5(TGFB3):c.1034C>G (p.Ser345Ter)	rs1060502827
NM_003239.5(TGFB3):c.926G>A (p.Arg309His)	rs1057524768
NM_003482.4(KMT2D):c.15536G>A (p.Arg5179His)	rs267607237
NM_003482.4(KMT2D):c.16149dup (p.Lys5384fs)	rs2499026487
NM_003482.4(KMT2D):c.6595del (p.Tyr2199fs)	rs398123753
NM_003661.4(APOL1):c.1164_1169del (p.Asn388_Tyr389del)	rs71785313
NM_003982.4(SLC7A7):c.770+1del	rs2139394672
NM_004004.6(GJB2):c.280_284dup (p.Ala96fs)	rs886037625
NM_004004.6(GJB2):c.35G>T (p.Gly12Val)	rs1801002
NM_004004.6(GJB2):c.35dup (p.Val13fs)	rs80338939
NM_004004.6(GJB2):c.380G>T (p.Arg127Leu)	rs111033196
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln)	rs80338950
NM_004006.3(DMD):c.9955T>C (p.Cys3319Arg)	rs886044217
NM_004086.3(COCH):c.349T>C (p.Trp117Arg)	rs121908929
NM_004181.5(UCHL1):c.172C>T (p.Gln58Ter)
NM_004183.4(BEST1):c.728C>T (p.Ala243Val)	rs28940570
NM_004183.4(BEST1):c.763C>T (p.Arg255Trp)	rs372989281
NM_004211.5(SLC6A5):c.1181_1182delinsAA (p.Trp394Ter)
NM_004260.4(RECQL4):c.1166_1167del (p.Cys389fs)	rs34134064
NM_004281.4(BAG3):c.77G>A (p.Trp26Ter)	rs1554875409
NM_004287.5(GOSR2):c.22dup (p.Thr8fs)	rs746855352
NM_004320.6(ATP2A1):c.1672_1673dup (p.Leu559fs)	rs1433893346
NM_004360.5(CDH1):c.12G>A (p.Trp4Ter)	rs1555509636
NM_004380.3(CREBBP):c.4894TTC[1] (p.Phe1633del)	rs1555471931
NM_004380.3(CREBBP):c.5603G>A (p.Arg1868Gln)	rs1567263168
NM_004408.4(DNM1):c.1335+1638G>A	rs747079285
NM_004453.4(ETFDH):c.269T>A (p.Leu90Ter)	rs749085653
NM_004519.4(KCNQ3):c.988C>T (p.Arg330Cys)	rs118192251
NM_004539.4(NARS1):c.1600C>T (p.Arg534Ter)	rs2051507892
NM_004621.6(TRPC6):c.2678G>T (p.Ser893Ile)	rs1591517921
NM_004646.4(NPHS1):c.1760T>G (p.Leu587Arg)	rs386833892
NM_004655.4(AXIN2):c.1474_1492del (p.Ala492fs)	rs2509414042
NM_004655.4(AXIN2):c.278dup (p.Tyr93Ter)
NM_004937.3(CTNS):c.809_811del (p.Ser270del)	rs786204632
NM_004958.4(MTOR):c.5663T>G (p.Phe1888Cys)	rs869312666
NM_004974.4(KCNA2):c.881G>A (p.Arg294His)	rs886041761
NM_004985.5(KRAS):c.180_181delinsAA (p.Gln61Lys)	rs2141510126
NM_005076.5(CNTN2):c.2193G>A (p.Trp731Ter)	rs1553347743
NM_005097.4(LGI1):c.1418C>T (p.Ser473Leu)	rs797044999
NM_005188.4(CBL):c.1228-2A>G	rs727504426
NM_005249.5(FOXG1):c.604C>T (p.Leu202Phe)	rs2502226006
NM_005249.5(FOXG1):c.770T>C (p.Leu257Pro)	rs1555321353
NM_005267.5(GJA8):c.595C>T (p.Pro199Ser)	rs1651918704
NM_005343.4(HRAS):c.175G>A (p.Ala59Thr)	rs727503093
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys)	rs104894228
NM_005476.7(GNE):c.2086G>A (p.Val696Met)	rs121908627
NM_005476.7(GNE):c.616+1del	rs1554663295
NM_005518.4(HMGCS2):c.1502G>C (p.Arg501Pro)	rs372079931
NM_005585.5(SMAD6):c.508C>T (p.Gln170Ter)	rs1235097131
NM_005591.4(MRE11):c.1090C>T (p.Arg364Ter)	rs371077728
NM_005609.4(PYGM):c.2262del (p.Lys754fs)	rs398124210
NM_005629.4(SLC6A8):c.945_949del (p.Phe315fs)	rs1603216806
NM_005797.4(MPZL2):c.68del (p.Pro23fs)	rs1167608859
NM_005807.6(PRG4):c.3462_3465del (p.Thr1155fs)	rs768053349
NM_005912.3(MC4R):c.811T>C (p.Cys271Arg)	rs1057517991
NM_006009.4(TUBA1A):c.190C>T (p.Arg64Trp)	rs1064794568
NM_006009.4(TUBA1A):c.518C>T (p.Pro173Leu)	rs1565627304
NM_006086.4(TUBB3):c.1249G>A (p.Asp417Asn)	rs267607164
NM_006086.4(TUBB3):c.136C>T (p.Arg46Trp)	rs1555625363
NM_006087.4(TUBB4A):c.763G>A (p.Val255Ile)	rs767399782
NM_006494.4(ERF):c.891_892del (p.Gly299fs)	rs587777007
NM_006516.4(SLC2A1):c.1223G>A (p.Gly408Asp)	rs1570590876
NM_006516.4(SLC2A1):c.823G>A (p.Ala275Thr)	rs121909740
NM_006565.4(CTCF):c.1024C>T (p.Arg342Cys)	rs1131691283
NM_006623.4(PHGDH):c.488G>A (p.Arg163Gln)	rs587777483
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly)	rs672601334
NM_006912.6(RIT1):c.229G>C (p.Ala77Pro)	rs869025191
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu)	rs730881014
NM_006912.6(RIT1):c.270G>C (p.Met90Ile)	rs483352822
NM_006946.4(SPTBN2):c.1438C>T (p.Arg480Trp)	rs397514749
NM_007055.4(POLR3A):c.1771-6C>G	rs115020338
NM_007118.4(TRIO):c.4283G>A (p.Arg1428Gln)	rs879255626
NM_007118.4(TRIO):c.4513C>T (p.Arg1505Ter)	rs2532963831
NM_007118.4(TRIO):c.7050del (p.Val2351fs)	rs746654944
NM_007289.4(MME):c.467del (p.Pro156fs)	rs749320057
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs)	rs80357508
NM_007375.4(TARDBP):c.1144G>A (p.Ala382Thr)	rs367543041
NM_012199.5(AGO1):c.595G>A (p.Gly199Ser)	rs2148711383
NM_013275.6(ANKRD11):c.1897_1900del (p.Lys633fs)
NM_013275.6(ANKRD11):c.1977C>G (p.Tyr659Ter)	rs749201074
NM_014023.4(WDR37):c.356C>T (p.Ser119Phe)	rs1589088690
NM_014231.5(VAMP1):c.340del (p.Ile114fs)	rs746220436
NM_014270.5(SLC7A9):c.120G>A (p.Val40=)	rs140179068
NM_014270.5(SLC7A9):c.1399+4_1399+7del	rs747593886
NM_014334.4(FRRS1L):c.584_586del (p.Gly195del)	rs878853282
NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter)	rs565203731
NM_014363.6(SACS):c.826C>T (p.Arg276Cys)	rs1438645077
NM_014363.6(SACS):c.827G>A (p.Arg276His)	rs2542402666
NM_014804.3(KIAA0753):c.1571_1572del (p.Arg524fs)	rs770256450
NM_014874.4(MFN2):c.1091G>A (p.Arg364Gln)	rs879254011
NM_014874.4(MFN2):c.2219G>C (p.Trp740Ser)	rs28940292
NM_014874.4(MFN2):c.707C>T (p.Thr236Met)	rs773159585
NM_014927.5(CNKSR2):c.1198C>T (p.Arg400Ter)	rs2519101342
NM_014946.4(SPAST):c.1216A>G (p.Ile406Val)	rs587777757
NM_014946.4(SPAST):c.1478A>C (p.Asp493Ala)
NM_014946.4(SPAST):c.1841C>T (p.Thr614Ile)	rs1573186691
NM_014956.5(CEP164):c.2688_2691del (p.Arg897fs)	rs1317765862
NM_014956.5(CEP164):c.3039_3040dup (p.Gln1014fs)	rs747130165
NM_015001.3(SPEN):c.5806C>T (p.Arg1936Ter)	rs2071226510
NM_015046.7(SETX):c.5243dup (p.Leu1750fs)	rs754706851
NM_015100.4(POGZ):c.1135C>T (p.Arg379Ter)	rs1657533128
NM_015215.4(CAMTA1):c.4780C>T (p.Arg1594Ter)	rs1553280067
NM_015272.5(RPGRIP1L):c.1421del (p.Asn474fs)	rs760952407
NM_015909.4(NBAS):c.3274_3277del (p.Glu1092fs)	rs1205645084
NM_015915.5(ATL1):c.757G>C (p.Val253Leu)
NM_016180.5(SLC45A2):c.2T>C (p.Met1Thr)	rs764544992
NM_016239.4(MYO15A):c.1137del (p.Tyr380fs)	rs769260536
NM_016333.4(SRRM2):c.7748_7758del (p.Thr2583fs)	rs2505618143
NM_016373.4(WWOX):c.107+1G>A	rs1300924648
NM_016938.5(EFEMP2):c.481G>A (p.Glu161Lys)	rs761656636
NM_017646.6(TRIT1):c.22C>T (p.Arg8Ter)	rs184469579
NM_017780.4(CHD7):c.3106C>T (p.Arg1036Ter)	rs1554597716
NM_017780.4(CHD7):c.4787A>G (p.Asp1596Gly)	rs1057521078
NM_018075.5(ANO10):c.132dup (p.Asp45fs)	rs540331226
NM_018255.4(ELP2):c.418C>T (p.Arg140Ter)
NM_018418.5(SPATA7):c.20_23delTCAG	rs527236050
NM_018896.5(CACNA1G):c.5144G>A (p.Arg1715His)	rs755221106
NM_018972.4(GDAP1):c.368A>G (p.His123Arg)	rs397515442
NM_018972.4(GDAP1):c.786del (p.Phe263fs)	rs1060500978
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp)	rs886039763
NM_020366.4(RPGRIP1):c.2367+23del	rs781728563
NM_020812.4(DOCK6):c.616_617dup (p.Leu207fs)	rs1321312835
NM_020964.3(EPG5):c.5943-9_5943-5del	rs773330060
NM_021008.4(DEAF1):c.910AAG[1] (p.Lys305del)	rs1554943158
NM_021076.4(NEFH):c.3010_3011del (p.Asp1004fs)	rs876657411
NM_021224.6(ZNF462):c.3305dup (p.Gln1103fs)	rs753422696
NM_021870.2(FGG):c.901C>T (p.Arg301Cys)	rs121913087
NM_021942.6(TRAPPC11):c.2958G>A (p.Trp986Ter)	rs2476948907
NM_021942.6(TRAPPC11):c.518_521del (p.Phe173fs)	rs771717941
NM_022124.6(CDH23):c.1087del (p.Val363fs)	rs747955135
NM_022162.3(NOD2):c.3019dup (p.Leu1007fs)	rs2066847
NM_022786.3(ARV1):c.518dup (p.Pro174fs)	rs544784472
NM_022834.5(VWA1):c.879del (p.Arg293fs)	rs746212067
NM_024417.5(FDXR):c.463C>T (p.Arg155Trp)	rs752675360
NM_024592.5(SRD5A3):c.645_670del (p.His216fs)	rs777551011
NM_024675.4(PALB2):c.3202-1G>A	rs515726111
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer)	rs775950661
NM_024757.5(EHMT1):c.40dup (p.Glu14fs)	rs1564618717
NM_025074.7(FRAS1):c.5125C>T (p.Arg1709Ter)	rs775517752
NM_031448.6(C19orf12):c.171_181del (p.Gly58fs)	rs515726204
NM_032271.3(TRAF7):c.1964G>A (p.Arg655Gln)	rs1331463984
NM_032409.3(PINK1):c.268_283del (p.Trp90fs)	rs1388721898
NM_032634.4(PIGO):c.2191dup (p.Arg731fs)	rs760848629
NM_032634.4(PIGO):c.589_590del (p.Pro197fs)	rs763591247
NM_033109.5(PNPT1):c.407G>A (p.Arg136His)	rs746356243
NM_033305.3(VPS13A):c.9287_9290dup (p.Thr3098fs)	rs1834577610
NM_033310.3(KCNK4):c.698C>T (p.Pro233Leu)	rs2034823903
NM_033380.3(COL4A5):c.1525G>C (p.Gly509Arg)	rs754223700
NM_052844.4(DYNC2I2):c.93_108del (p.Pro32fs)
NM_052867.4(NALCN):c.3553G>A (p.Ala1185Thr)	rs2139519168
NM_053274.3(GLMN):c.157_161del (p.Glu52_Lys53insTer)	rs762515373
NM_058216.3(RAD51C):c.395C>G (p.Thr132Arg)	rs730881930
NM_130837.3(OPA1):c.2873_2876del	rs80356530
NM_138425.4(C12orf57):c.2T>G (p.Met1Arg)
NM_139058.3(ARX):c.590del (p.Gly197fs)
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)	rs587778771
NM_147127.5(EVC2):c.534dup (p.Glu179Ter)	rs1553851462
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys)	rs1064797245
NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu)	rs886041396
NM_152328.5(ADSS1):c.741dup (p.Lys248fs)	rs769542442
NM_152490.5(B3GALNT2):c.1275_1278delinsCCT (p.Trp425fs)	rs1683058752
NM_152564.5(VPS13B):c.11832dup (p.Ser3945fs)	rs180177374
NM_173689.7(CRB2):c.3089_3104dup (p.Gly1036fs)	rs879255251
NM_181882.3(PRX):c.586C>T (p.Arg196Ter)	rs104894706
NM_203447.4(DOCK8):c.2986C>T (p.Gln996Ter)
NM_206538.4(EMC10):c.287del (p.Gly96fs)	rs770255014
NM_206933.4(USH2A):c.1836_1839dup (p.Gly614fs)	rs2102610607
NM_213599.3(ANO5):c.2030-3C>G	rs752534913
NM_213599.3(ANO5):c.898dup (p.Ile300fs)	rs1383346134
NR_003137.3(RNU4-2):n.69C>T
NR_199791.1(RNU2-2):n.4G>A