Variants from Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego with conflicting interpretations

Minimum review status of the submission from Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego:	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
549	400	12	385	1	11	114	451

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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego		pathogenic	likely pathogenic	uncertain significance	likely benign	benign	association	drug response	protective	other
	pathogenic	12	237	37	3	2	2	3	1	4
	likely pathogenic	149	0	77	5	4	2	2	1	2
	uncertain significance	1	1	0	1	1	0	0	1	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	234	3	56	0	1	29	88
GeneDx	0	237	0	48	0	0	19	66
OMIM	0	118	8	26	0	5	1	39
Revvity Omics, Revvity	0	168	0	28	0	0	12	39
Fulgent Genetics, Fulgent Genetics	0	95	0	30	0	0	1	31
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	128	0	22	0	0	6	28
PreventionGenetics, part of Exact Sciences	0	114	1	18	0	0	5	24
Baylor Genetics	0	107	0	17	0	0	6	22
Counsyl	0	22	0	18	0	0	3	21
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	26	0	15	0	0	7	21
Natera, Inc.	0	83	0	16	0	0	3	19
Eurofins Ntd Llc (ga)	0	77	0	8	1	2	9	17
Ambry Genetics	0	50	0	11	1	0	5	15
CeGaT Center for Human Genetics Tuebingen	0	119	0	12	1	0	3	15
Illumina Laboratory Services, Illumina	0	65	0	11	0	0	5	15
Genetic Services Laboratory, University of Chicago	0	51	0	11	0	1	2	14
3billion	0	80	0	13	0	0	0	13
Color Diagnostics, LLC DBA Color Health	0	23	0	3	0	0	9	12
All of Us Research Program, National Institutes of Health	0	15	0	6	0	0	5	11
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	19	0	6	0	0	5	10
Mayo Clinic Laboratories, Mayo Clinic	0	82	0	7	1	0	4	10
Mendelics	0	25	0	8	0	0	2	10
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	85	0	9	0	0	0	9
AiLife Diagnostics, AiLife Diagnostics	0	23	0	8	0	0	1	9
Athena Diagnostics	0	34	0	6	1	0	4	9
Department of Pathology and Laboratory Medicine, Sinai Health System	0	33	0	5	0	0	4	9
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	0	58	0	8	0	0	1	9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	76	0	8	0	0	1	9
Genome-Nilou Lab	0	30	0	7	0	0	1	8
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	42	0	4	0	0	4	8
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	10	0	5	0	0	2	7
Clinical Genetics Laboratory, Skane University Hospital Lund	0	53	0	7	0	0	1	7
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	34	0	5	0	0	2	7
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	49	0	6	0	0	1	7
Institute of Human Genetics, University of Leipzig Medical Center	0	54	0	7	0	0	0	7
LDLR-LOVD, British Heart Foundation	0	4	0	6	0	0	1	7
Neuberg Centre For Genomic Medicine, NCGM	0	20	0	7	0	0	0	7
Stanford Center for Inherited Cardiovascular Disease, Stanford University	0	10	0	7	0	0	0	7
Variantyx, Inc.	0	51	0	7	0	0	0	7
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge	0	2	0	5	0	0	1	6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	44	0	5	0	0	1	6
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	14	0	6	1	0	1	6
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	21	0	4	0	0	3	6
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	0	17	0	6	0	0	0	6
Myriad Genetics, Inc.	0	25	0	5	0	0	1	6
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	0	24	0	3	0	0	2	5
Dasa	0	59	0	5	0	0	0	5
MGZ Medical Genetics Center	0	24	0	5	0	0	0	5
Quest Diagnostics Nichols Institute San Juan Capistrano	0	40	0	3	0	0	3	5
Robarts Research Institute, Western University	0	2	0	4	0	0	1	5
CENTOGENE GmbH and LLC - Guiding Precision Medicine	0	22	0	4	0	0	0	4
CSER _CC_NCGL, University of Washington	0	2	0	1	0	0	3	4
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	2	0	0	2	4
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen	0	3	0	1	0	0	3	4
Clinical Genomics Laboratory, Washington University in St. Louis	0	8	0	3	0	0	1	4
Daryl Scott Lab, Baylor College of Medicine	0	18	0	2	0	0	3	4
Department of Human Genetics, Hannover Medical School	0	10	0	4	0	0	0	4
Fundacion Hipercolesterolemia Familiar	0	0	0	3	0	0	1	4
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub	0	25	0	4	0	0	0	4
Genomics England Pilot Project, Genomics England	0	5	0	4	0	0	0	4
Génétique des Maladies du Développement, Hospices Civils de Lyon	0	10	0	4	0	0	1	4
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine	0	11	0	4	0	0	0	4
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	0	15	0	4	0	0	0	4
Institute of Human Genetics Munich, TUM University Hospital	0	21	0	4	0	0	0	4
Juno Genomics, Hangzhou Juno Genomics, Inc	0	26	0	3	0	0	1	4
Laboratory of Genetics, Children's Clinical University Hospital Latvia	0	24	0	4	0	0	0	4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	0	16	0	4	0	0	0	4
Molecular Biology Laboratory, Fundació Puigvert	0	2	0	4	0	0	0	4
NIHR Bioresource Rare Diseases, University of Cambridge	0	1	0	4	0	0	1	4
Solve-RD Consortium	0	1	0	3	0	0	1	4
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	0	16	0	0	0	0	3	3
Centre of Medical Genetics, University Hospital Muenster	0	12	0	2	0	0	1	3
ClinPGx	0	0	0	0	0	3	0	3
Clinical Genetics and Genomics, Karolinska University Hospital	0	19	0	3	0	0	0	3
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	0	0	0	2	0	0	1	3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	43	0	2	0	0	1	3
Genome Diagnostics Laboratory, Amsterdam University Medical Center	0	27	0	3	0	0	0	3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	0	14	0	3	0	0	0	3
Iberoamerican FH Network	0	1	0	2	0	0	1	3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	0	45	0	3	0	0	0	3
Laboratory of Genetics and Molecular Cardiology, University of São Paulo	0	1	0	2	0	0	1	3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	0	3	0	3	0	0	1	3
Medical Genetics Summaries	0	0	0	0	0	3	0	3
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation	0	2	0	3	0	0	0	3
New York Genome Center	0	19	0	3	0	0	1	3
University of Washington Center for Mendelian Genomics, University of Washington	0	2	0	3	0	0	1	3
Breakthrough Genomics, Breakthrough Genomics	0	3	0	1	1	0	1	2
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	0	8	0	2	0	0	0	2
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital	0	5	0	2	0	0	0	2
Cavalleri Lab, Royal College of Surgeons in Ireland	0	0	0	1	0	0	1	2
Center for Personalized Medicine, Children's Hospital Los Angeles	0	3	0	1	0	0	1	2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	0	8	0	2	0	0	0	2
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital	0	2	0	2	0	0	0	2
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel	0	7	0	2	0	0	0	2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine	0	3	0	2	0	0	0	2
Dubai Health Genomic Medicine Center, Dubai Health	0	18	0	1	0	0	1	2
Elsea Laboratory, Baylor College of Medicine	0	2	0	1	0	0	2	2
Genetics and Molecular Pathology, SA Pathology	0	24	0	2	0	0	0	2
Genomenon, Inc, Genomenon, Inc	0	3	0	2	0	0	0	2
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	3	0	0	0	0	2	2
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino"	0	4	0	2	0	0	0	2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin	0	4	0	2	0	0	0	2
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)	0	0	0	2	0	0	0	2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	5	0	2	0	0	0	2
Laboratoire de Génétique Moléculaire, CHU Bordeaux	0	5	0	1	0	0	1	2
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum	0	8	0	2	0	0	0	2
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova	0	1	0	2	0	0	0	2
Medical and Scientific Branch, Hong Kong Genome Institute	0	4	0	2	0	0	0	2
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	0	11	0	1	0	0	1	2
Molecular Genetics laboratory, Necker Hospital	0	1	0	2	0	0	0	2
Neurogenetics Laboratory - MEYER, AOU Meyer	0	2	0	2	0	0	1	2
OLLIN Analises Genomicas, OLLIN	0	12	0	2	0	0	0	2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center	0	3	0	2	0	0	0	2
SIB Swiss Institute of Bioinformatics	0	2	0	2	0	0	0	2
Suma Genomics	0	3	0	1	0	0	1	2
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille	0	7	0	2	0	0	0	2
UCLA Clinical Genomics Center, UCLA	0	1	0	2	0	0	0	2
Undiagnosed Diseases Network, NIH	0	14	0	2	0	0	1	2
deCODE genetics, Amgen	0	0	0	2	0	0	0	2
Aleixo Muise Laboratory, Hospital For Sick Children	0	2	0	1	0	0	0	1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital	0	0	0	1	0	0	0	1
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	0	4	0	1	0	0	0	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	10	0	1	0	0	0	1
Biochemistry Laboratory of CDMU, Chengde Medical University	0	0	0	1	0	0	1	1
Bioinformatics Unit, Institut Pasteur de Montevideo	0	1	0	1	0	0	0	1
Blueprint Genetics	0	18	0	0	0	0	1	1
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia	0	5	0	0	0	0	1	1
CFTR-France	0	2	0	1	0	0	0	1
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service	0	13	0	0	0	0	1	1
Center for Genetic Medicine Research, Children's National Medical Center	0	0	0	0	0	0	1	1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen	0	1	0	0	0	0	1	1
Center for Medical Genetics Ghent, University of Ghent	0	1	0	0	0	0	1	1
Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University	0	0	0	1	0	0	1	1
Central Laboratory, The First Hospital of Lanzhou University	0	0	0	1	0	0	1	1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital	0	5	0	1	0	0	0	1
Centre of Medical Genetics, University of Antwerp	0	0	0	1	0	0	0	1
Chao Lab, Baylor College of Medicine, Texas Children's Hospital	0	0	0	1	0	0	1	1
Claritas Genomics	0	0	0	1	0	0	0	1
ClinGen ACADVL Variant Curation Expert Panel, ClinGen	0	0	0	1	0	0	0	1
ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen	0	1	0	1	0	0	0	1
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen	0	1	0	1	0	0	0	1
ClinVar Staff, National Center for Biotechnology Information (NCBI)	0	1	0	1	0	0	0	1
Clinical Genetics, Academic Medical Center	0	14	0	1	0	0	0	1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital	0	9	0	1	0	0	0	1
Cytogenetics, Genetics Associates, Inc.	0	0	0	1	0	0	1	1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	0	3	0	1	0	0	0	1
Department of Clinical Genetics, Medical University of Lodz	0	0	0	1	0	0	0	1
Department of Molecular Genetics, Istishari Arab Hospital	0	2	0	1	0	0	0	1
Department of Neurology, Children’s Hospital of Chongqing Medical University	0	0	0	1	0	0	0	1
Department of Paediatrics at Addenbrookes, Cambridge University Hospitals NHS Foundation Trust (UK)	0	1	0	1	0	0	1	1
Department of Pediatric Oncology, Hematology and Clinical Immunology, University Clinics Duesseldorf	0	0	0	0	0	0	1	1
Division of Human Genetics, Children's Hospital of Philadelphia	0	8	0	1	0	0	0	1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand	0	6	0	0	0	0	1	1
Dunham Lab, University of Washington	0	3	0	1	0	0	0	1
First Genomix Gene Laboratory, Genetic Diagnostics Department	0	16	0	1	0	0	0	1
Flegel Lab, National Institutes of Health	0	0	0	1	0	0	1	1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System	0	1	0	1	1	0	1	1
Genetic Foundation of Khorasan Razavi (GFKR)	0	1	0	1	0	0	0	1
Genetics Department, University Hospital of Toulouse	0	1	0	1	0	0	1	1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare	0	3	0	1	0	0	0	1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University	0	0	0	1	0	0	1	1
Genome Sciences Centre, British Columbia Cancer Agency	0	0	0	1	0	0	1	1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	0	7	0	1	0	0	0	1
Genomic Medicine, Universita Cattolica del Sacro Cuore	0	0	0	1	0	0	1	1
Genomics and Molecular Medicine Service, East Genomic Laboratory Hub, NHS Genomic Medicine Service	0	4	0	1	0	0	0	1
Gharavi Laboratory, Columbia University	0	7	0	0	0	0	1	1
Groupe Hospitalier Pitie Salpetriere, Uf Genomique Du Developpement, Assistance Publique Hopitaux de Paris Sorbonne Université	0	0	0	1	0	0	0	1
Human Genetics Bochum, Ruhr University Bochum	0	0	0	1	0	0	0	1
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	0	1	0	1	0	0	0	1
IU Genetic Testing Laboratories, Indiana University School of Medicine	0	0	0	1	0	0	1	1
Inherited Neuropathy Consortium Ii, University Of Miami	0	0	0	0	0	0	1	1
Institute for Human Genetics, University Hospital Essen	0	0	0	0	0	0	1	1
Institute for Integrative and Experimental Genomics, University of Luebeck	0	0	0	0	0	0	1	1
Institute of Cellular and Molecular Medicine, Copenhagen University	0	0	0	1	0	0	1	1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg	0	7	0	1	0	0	0	1
Institute of Human Genetics, Heidelberg University	0	5	0	1	0	0	0	1
Institute of Human Genetics, University Hospital of Duesseldorf	0	3	0	1	0	0	0	1
Institute of Medical Molecular Genetics, University of Zurich	0	0	0	1	0	0	0	1
Kariminejad - Najmabadi Pathology & Genetics Center	0	4	0	0	0	0	1	1
Knight Diagnostic Laboratories, Oregon Health and Sciences University	0	18	0	1	0	0	0	1
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine	0	0	0	0	0	0	1	1
Leeds Institute of Medical Research, University of Leeds	0	0	0	1	0	0	0	1
Leiden Open Variation Database	0	3	0	0	0	0	1	1
Lifecell International Pvt. Ltd	0	5	0	1	0	0	0	1
Medgenome Labs Pvt Ltd	0	0	0	1	0	0	0	1
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano	0	1	0	0	0	0	1	1
Medical Genetics Lab, Policlinico S. Orsola.Malpighi	0	0	0	1	0	0	1	1
Molecular Genetics Lab, CHRU Brest	0	2	0	1	0	0	0	1
Molecular Genetics, Royal Melbourne Hospital	0	8	0	1	0	0	0	1
Molecular Pathology Diagnostics Labratory, University of Iowa Hospitals & Clinics	0	0	0	1	0	0	1	1
NHS Central & South Genomic Laboratory Hub	0	11	0	1	0	0	0	1
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health	0	2	0	1	0	0	0	1
Neurology Department, Shenzhen Children's Hospital	0	1	0	1	0	0	0	1
Pediatric Highly Intensive Care Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico	0	0	0	1	0	0	1	1
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking C/o Practice Pomarino	0	1	0	1	0	0	0	1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	1393	6	0	1	0	0	1	1
Rare Disease Group, Clinical Genetics, Karolinska Institutet	0	0	0	1	1	0	1	1
Rare Disease Group, University of Exeter	0	0	0	1	0	0	1	1
Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, Mayo Clinic	0	1	0	1	0	0	0	1
Reproductive Health Research and Development, BGI Genomics	0	8	1	0	0	0	0	1
Sbielas Lab-Department of Human Genetics University of Michigan, University of Michigan Medical School	0	0	0	1	0	0	0	1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital	0	2	0	1	0	0	1	1
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur	0	0	0	1	0	0	0	1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud	0	2	0	1	0	0	0	1
SingHealth Duke-NUS Institute of Precision Medicine	0	1	0	0	0	0	1	1
Tumer Group, Copenhagen University Hospital, Rigshospitalet	0	0	0	1	0	0	0	1
UAB Medical Genomics Laboratory, UAB Medicine	0	0	0	1	0	0	0	1
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela	0	0	0	1	0	0	0	1
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics	0	0	0	0	0	1	0	1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	0	5	0	1	0	0	0	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
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_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
UGT1A1*6	rs4148323	0.01140
NM_000371.4(TTR):c.424G>A (p.Val142Ile)	rs76992529	0.00475
NM_000518.4(HBB):c.19G>A (p.Glu7Lys)	rs33930165	0.00414
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)	rs72474224	0.00393
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)	rs34557412	0.00391
NM_000152.5(GAA):c.-32-13T>G	rs386834236	0.00380
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)	rs61755320	0.00364
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)	rs77931234	0.00347
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)	rs534542684	0.00342
NM_016038.4(SBDS):c.258+2T>C	rs113993993	0.00337
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro)	rs1800546	0.00319
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln)	rs34324426	0.00283
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)	rs76763715	0.00191
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)	rs113624356	0.00188
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr)	rs121912691	0.00175
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr)	rs114925667	0.00164
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu)	rs138213197	0.00160
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys)	rs149617956	0.00158
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp)	rs121912616	0.00150
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro)	rs76723693	0.00149
NM_001041.4(SI):c.5234T>G (p.Phe1745Cys)	rs79717168	0.00108
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp)	rs104893915	0.00107
NM_016038.4(SBDS):c.184A>T (p.Lys62Ter)	rs120074160	0.00105
NM_024063.3(AFG2B):c.527G>T (p.Gly176Val)	rs145451123	0.00098
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)	rs113994097	0.00076
NM_000402.4(G6PD):c.934G>C (p.Asp312His)	rs137852318	0.00072
NM_176869.3(PPA2):c.514G>A (p.Glu172Lys)	rs146013446	0.00069
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)	rs113994095	0.00068
NM_005505.5(SCARB1):c.1127C>T (p.Pro376Leu)	rs74830677	0.00066
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)	rs549794342	0.00061
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser)	rs386834233	0.00059
NM_001492.6(GDF1):c.681C>A (p.Cys227Ter)	rs121434422	0.00058
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)	rs137852944	0.00048
NM_025114.4(CEP290):c.4813-2A>G	rs369523378	0.00046
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys)	rs137854529	0.00046
NM_020800.3(IFT80):c.721G>C (p.Gly241Arg)	rs138004478	0.00043
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg)	rs138977195	0.00041
NM_020117.11(LARS1):c.1292T>A (p.Val431Asp)	rs150429680	0.00041
NM_145064.3(STAC3):c.851G>C (p.Trp284Ser)	rs140291094	0.00039
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)	rs140455771	0.00038
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu)	rs28939378	0.00036
NM_015836.4(WARS2):c.938A>T (p.Lys313Met)	rs145867327	0.00035
NM_033629.6(TREX1):c.341G>A (p.Arg114His)	rs72556554	0.00030
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_001083614.2(EARS2):c.328G>A (p.Gly110Ser)	rs201842633	0.00025
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln)	rs121912707	0.00023
NM_000237.3(LPL):c.644G>A (p.Gly215Glu)	rs118204057	0.00022
NM_020975.6(RET):c.2410G>A (p.Val804Met)	rs79658334	0.00022
NM_024339.5(THOC6):c.298T>A (p.Trp100Arg)	rs138632121	0.00020
NM_000092.5(COL4A4):c.4715C>T (p.Pro1572Leu)	rs121912863	0.00019
NM_001083614.2(EARS2):c.322C>T (p.Arg108Trp)	rs376103091	0.00019
NM_058179.4(PSAT1):c.296C>T (p.Ala99Val)	rs587777778	0.00019
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)	rs121434629	0.00018
NM_004562.3(PRKN):c.719C>T (p.Thr240Met)	rs137853054	0.00016
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)	rs200563280	0.00013
NM_006907.4(PYCR1):c.355C>T (p.Arg119Cys)	rs121918376	0.00013
NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter)	rs104893919	0.00012
NM_006345.4(SLC30A9):c.40del (p.Ser14fs)	rs767078182	0.00012
NM_017872.5(THG1L):c.164T>C (p.Val55Ala)	rs201920319	0.00012
NM_000520.6(HEXA):c.1305C>T (p.Tyr435=)	rs587779406	0.00011
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met)	rs193922879	0.00011
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)	rs118192172	0.00011
NM_000153.4(GALC):c.195G>C (p.Gly65=)	rs886042057	0.00010
NM_000540.3(RYR1):c.10348-6C>G	rs193922837	0.00010
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp)	rs200546266	0.00010
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp)	rs375882485	0.00009
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter)	rs200440467	0.00009
NM_001352514.2(HLCS):c.1974dup (p.Val659fs)	rs767533946	0.00009
NM_007194.4(CHEK2):c.444+1G>A	rs121908698	0.00009
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg)	rs201893408	0.00009
NM_000404.4(GLB1):c.1325G>A (p.Arg442Gln)	rs564428355	0.00008
NM_006767.4(LZTR1):c.1943-256C>T	rs761685529	0.00008
NM_006949.4(STXBP2):c.389T>C (p.Leu130Ser)	rs930347206	0.00008
NM_025243.4(SLC19A3):c.980-14A>G	rs200542114	0.00008
NM_001609.4(ACADSB):c.621G>A (p.Trp207Ter)	rs374420253	0.00007
NM_005932.4(MIPEP):c.1534C>G (p.His512Asp)	rs779598020	0.00007
NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys)	rs121918528	0.00006
NM_000124.4(ERCC6):c.2599-26A>G	rs4253196	0.00006
NM_000158.4(GBE1):c.555+1G>T	rs759707498	0.00006
NM_000821.7(GGCX):c.763G>A (p.Val255Met)	rs121909683	0.00006
NM_001358530.2(MOCS1):c.377G>A (p.Gly126Asp)	rs372246702	0.00006
NM_002168.4(IDH2):c.419G>A (p.Arg140Gln)	rs121913502	0.00006
NM_006623.4(PHGDH):c.1468G>A (p.Val490Met)	rs121907987	0.00006
NM_007198.4(PLPBP):c.260C>T (p.Pro87Leu)	rs755946598	0.00006
NM_020117.11(LARS1):c.3313C>T (p.Arg1105Ter)	rs369437593	0.00006
NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg)	rs137852988	0.00006
NM_152906.7(TANGO2):c.605+1G>A	rs372949028	0.00006
NM_152906.7(TANGO2):c.94C>T (p.Arg32Ter)	rs199801224	0.00006
NM_000256.3(MYBPC3):c.1790G>A (p.Arg597Gln)	rs727503195	0.00005
NM_000486.6(AQP2):c.559C>T (p.Arg187Cys)	rs104894328	0.00005
NM_000520.6(HEXA):c.533G>A (p.Arg178His)	rs28941770	0.00005
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser)	rs544453230	0.00005
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn)	rs121908030	0.00005
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg)	rs121918593	0.00005
NM_001242882.2(NAXD):c.922C>T (p.Arg308Cys)	rs767778853	0.00005
NM_005055.5(RAPSN):c.280G>A (p.Glu94Lys)	rs200550567	0.00005
NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro)	rs104894293	0.00005
NM_007103.4(NDUFV1):c.166T>C (p.Ser56Pro)	rs201727685	0.00005
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter)	rs140826989	0.00004
NM_000204.5(CFI):c.559C>T (p.Arg187Ter)	rs368615806	0.00004
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln)	rs200411226	0.00004
NM_000285.4(PEPD):c.1342G>A (p.Gly448Arg)	rs121917724	0.00004
NM_000352.6(ABCC8):c.62T>A (p.Val21Asp)	rs200670692	0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu)	rs139043155	0.00004
NM_001164508.2(NEB):c.25336C>T (p.Arg8446Ter)	rs200731870	0.00004
NM_001376571.1(MADD):c.979C>T (p.Arg327Ter)	rs147179561	0.00004
NM_001605.3(AARS1):c.2251A>G (p.Arg751Gly)	rs143370729	0.00004
NM_003560.4(PLA2G6):c.2221C>T (p.Arg741Trp)	rs530348521	0.00004
NM_025132.4(WDR19):c.781dup (p.Thr261fs)	rs748656635	0.00004
NM_031307.4(PUS3):c.1A>G (p.Met1Val)	rs543614309	0.00004
NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter)	rs200293302	0.00004
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln)	rs59301204	0.00004
NM_000018.4(ACADVL):c.1097G>A (p.Arg366His)	rs112406105	0.00003
NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser)	rs199524907	0.00003
NM_000083.3(CLCN1):c.1013G>A (p.Arg338Gln)	rs80356703	0.00003
NM_000143.4(FH):c.521C>G (p.Pro174Arg)	rs199822819	0.00003
NM_000170.3(GLDC):c.2714T>G (p.Val905Gly)	rs188269735	0.00003
NM_000170.3(GLDC):c.911C>T (p.Pro304Leu)	rs1207147043	0.00003
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)	rs3218716	0.00003
NM_000298.6(PKLR):c.401T>A (p.Val134Asp)	rs574051756	0.00003
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr)	rs80338958	0.00003
NM_000335.5(SCN5A):c.5827C>T (p.Arg1943Ter)	rs794728940	0.00003
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu)	rs368505753	0.00003
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)	rs746118995	0.00003
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys)	rs768563000	0.00003
NM_000540.3(RYR1):c.14928C>G (p.Phe4976Leu)	rs368874586	0.00003
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp)	rs104894718	0.00003
NM_001163435.3(TBCK):c.1363A>T (p.Lys455Ter)	rs376699648	0.00003
NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys)	rs398122965	0.00003
NM_001352514.2(HLCS):c.2182G>A (p.Gly728Ser)	rs119103230	0.00003
NM_001358921.2(COQ2):c.440G>A (p.Arg147His)	rs121918231	0.00003
NM_001399.5(EDA):c.1094T>C (p.Val365Ala)	rs397516654	0.00003
NM_001458.5(FLNC):c.4871C>T (p.Ser1624Leu)	rs879255639	0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)	rs376607329	0.00003
NM_003000.3(SDHB):c.136C>T (p.Arg46Ter)	rs74315370	0.00003
NM_005159.5(ACTC1):c.28C>A (p.Leu10Met)	rs397517057	0.00003
NM_005912.3(MC4R):c.449C>T (p.Thr150Ile)	rs766665118	0.00003
NM_020320.5(RARS2):c.419T>G (p.Phe140Cys)	rs772887102	0.00003
NM_020975.6(RET):c.1998G>T (p.Lys666Asn)	rs146646971	0.00003
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg)	rs187830361	0.00002
NM_000285.4(PEPD):c.833G>A (p.Gly278Asp)	rs121917723	0.00002
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter)	rs72559722	0.00002
NM_000478.6(ALPL):c.1348C>T (p.Arg450Cys)	rs138690664	0.00002
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter)	rs374705585	0.00002
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln)	rs201102492	0.00002
NM_001008216.2(GALE):c.151C>T (p.Arg51Trp)	rs780517804	0.00002
NM_001267550.2(TTN):c.49346-1G>A	rs869312070	0.00002
NM_001378615.1(CC2D2A):c.3544T>C (p.Trp1182Arg)	rs386833755	0.00002
NM_002180.3(IGHMBP2):c.1273C>T (p.Arg425Cys)	rs1303837541	0.00002
NM_020297.4(ABCC9):c.1828_1829del (p.Leu610fs)	rs776934642	0.00002
NM_024417.5(FDXR):c.1156C>T (p.Arg386Trp)	rs760345680	0.00002
NM_031885.5(BBS2):c.118G>T (p.Val40Phe)	rs886043059	0.00002
NM_000033.4(ABCD1):c.1903G>A (p.Val635Met)	rs201427153	0.00001
NM_000046.5(ARSB):c.215T>G (p.Leu72Arg)	rs397514441	0.00001
NM_000094.4(COL7A1):c.7485+5G>A	rs988031901	0.00001
NM_000097.7(CPOX):c.1171C>T (p.Arg391Trp)	rs375923779	0.00001
NM_000170.3(GLDC):c.1382G>A (p.Arg461Gln)	rs386833524	0.00001
NM_000170.3(GLDC):c.2614A>T (p.Lys872Ter)	rs1430968530	0.00001
NM_000170.3(GLDC):c.505T>C (p.Ser169Pro)	rs1356375715	0.00001
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln)	rs104894641	0.00001
NM_000199.5(SGSH):c.544C>T (p.Arg182Cys)	rs529855742	0.00001
NM_000204.5(CFI):c.1300del (p.Glu434fs)	rs757053954	0.00001
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg)	rs12720458	0.00001
NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser)	rs199473428	0.00001
NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp)	rs267606911	0.00001
NM_000257.4(MYH7):c.2605C>T (p.Arg869Cys)	rs730880750	0.00001
NM_000303.3(PMM2):c.623G>C (p.Gly208Ala)	rs398123309	0.00001
NM_000335.5(SCN5A):c.1045G>A (p.Asp349Asn)	rs779687673	0.00001
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp)	rs137854602	0.00001
NM_000335.5(SCN5A):c.4928G>A (p.Arg1643His)	rs28937316	0.00001
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu)	rs137854604	0.00001
NM_000481.4(AMT):c.958C>T (p.Arg320Cys)	rs866625610	0.00001
NM_000525.4(KCNJ11):c.616C>T (p.Arg206Cys)	rs775204908	0.00001
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)	rs121908043	0.00001
NM_000527.5(LDLR):c.190+4A>T	rs769446356	0.00001
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)	rs730882078	0.00001
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys)	rs144172724	0.00001
NM_000527.5(LDLR):c.325T>C (p.Cys109Arg)	rs140807148	0.00001
NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln)	rs193922839	0.00001
NM_000540.3(RYR1):c.131G>A (p.Arg44His)	rs139161723	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_000546.6(TP53):c.473G>A (p.Arg158His)	rs587782144	0.00001
NM_000709.4(BCKDHA):c.1234G>A (p.Val412Met)	rs398123490	0.00001
NM_001039348.3(EFEMP1):c.1033C>T (p.Arg345Trp)	rs121434491	0.00001
NM_001083116.3(PRF1):c.757G>A (p.Glu253Lys)	rs771076819	0.00001
NM_001126108.2(SLC12A3):c.1963C>T (p.Arg655Cys)	rs747249619	0.00001
NM_001198800.3(ASCC1):c.626+1G>A	rs747595523	0.00001
NM_001267550.2(TTN):c.10303+2T>C	rs371596417	0.00001
NM_001267550.2(TTN):c.51667C>T (p.Arg17223Ter)	rs748956593	0.00001
NM_001267550.2(TTN):c.83064_83073del (p.Ala27689fs)	rs794729351	0.00001
NM_001358530.2(MOCS1):c.1150+20G>A	rs752653792	0.00001
NM_001364905.1(LRBA):c.1933C>T (p.Arg645Ter)	rs368167203	0.00001
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val)	rs104893686	0.00001
NM_002016.2(FLG):c.7564C>T (p.Gln2522Ter)	rs767261854	0.00001
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp)	rs121913237	0.00001
NM_003000.3(SDHB):c.725G>A (p.Arg242His)	rs74315368	0.00001
NM_003038.5(SLC1A4):c.1369C>T (p.Arg457Trp)	rs761533681	0.00001
NM_003361.4(UMOD):c.326T>A (p.Val109Glu)	rs780462125	0.00001
NM_003560.4(PLA2G6):c.2035-2A>G	rs1602057157	0.00001
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile)	rs111033295	0.00001
NM_004531.5(MOCS2):c.226G>A (p.Gly76Arg)	rs780085174	0.00001
NM_005051.3(QARS1):c.477G>A (p.Trp159Ter)	rs776344968	0.00001
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter)	rs119103255	0.00001
NM_005912.3(MC4R):c.494G>A (p.Arg165Gln)	rs747681609	0.00001
NM_005993.5(TBCD):c.1340C>T (p.Ala447Val)	rs1311737177	0.00001
NM_005993.5(TBCD):c.967C>T (p.Arg323Ter)	rs773790897	0.00001
NM_006208.3(ENPP1):c.749C>T (p.Pro250Leu)	rs754659608	0.00001
NM_006767.4(LZTR1):c.263+1G>A	rs761241914	0.00001
NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys)	rs797045165	0.00001
NM_007294.4(BRCA1):c.2706_2707dup (p.Cys903fs)	rs80357717	0.00001
NM_012213.3(MLYCD):c.8G>A (p.Gly3Asp)	rs121908081	0.00001
NM_014780.5(CUL7):c.1648C>T (p.Arg550Ter)	rs746333044	0.00001
NM_017825.3(ADPRS):c.530C>T (p.Ser177Leu)	rs200626873	0.00001
NM_017837.4(PIGV):c.494C>A (p.Ala165Glu)	rs376328153	0.00001
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)	rs398123009	0.00001
NM_020442.6(VARS2):c.1468C>T (p.Arg490Ter)	rs778868393	0.00001
NM_021625.5(TRPV4):c.943C>T (p.Arg315Trp)	rs267607143	0.00001
NM_021971.4(GMPPB):c.553C>T (p.Arg185Cys)	rs397509425	0.00001
NM_031885.5(BBS2):c.1438C>T (p.Arg480Ter)	rs778090540	0.00001
NM_032043.3(BRIP1):c.1240C>T (p.Gln414Ter)	rs368796923	0.00001
NM_032756.4(HPDL):c.94C>T (p.Gln32Ter)	rs752764598	0.00001
NM_058216.3(RAD51C):c.404+2T>C	rs730881931	0.00001
NM_138477.4(CDAN1):c.2062C>T (p.Arg688Trp)	rs772828912	0.00001
NM_138694.4(PKHD1):c.4292G>A (p.Cys1431Tyr)	rs753307105	0.00001
NM_144997.7(FLCN):c.1579C>T (p.Arg527Ter)	rs879255683	0.00001
NM_176869.3(PPA2):c.503T>C (p.Ile168Thr)	rs760824971	0.00001
NM_183050.4(BCKDHB):c.410C>T (p.Ala137Val)	rs776631396	0.00001
NM_203447.4(DOCK8):c.1357G>T (p.Glu453Ter)	rs113203757	0.00001
NC_012920.1(MT-ATP6):m.9185T>C	rs199476138
NC_012920.1(MT-RNR1):m.1555A>G	rs267606617
NM_000048.4(ASL):c.571C>G (p.Arg191Gly)	rs143508372
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter)	rs770641163
NM_000053.4(ATP7B):c.2304dup (p.Met769fs)	rs137853287
NM_000095.3(COMP):c.1569C>G (p.Asn523Lys)	rs137852654
NM_000116.5(TAFAZZIN):c.811C>T (p.Gln271Ter)	rs1298362744
NM_000132.4(F8):c.3619_3622del (p.His1207fs)
NM_000135.4(FANCA):c.2807A>G (p.Glu936Gly)	rs766643461
NM_000138.5(FBN1):c.3037G>A (p.Gly1013Arg)	rs140593
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)	rs4647924
NM_000143.4(FH):c.1108+1G>T	rs1057517734
NM_000153.4(GALC):c.750A>G (p.Ile250Met)	rs2140016054
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro)	rs421016
NM_000157.4(GBA1):c.1448T>G (p.Leu483Arg)	rs421016
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln)	rs1060501002
NM_000169.3(GLA):c.1133G>A (p.Cys378Tyr)	rs2520851123
NM_000170.3(GLDC):c.1054del (p.Thr352fs)	rs386833518
NM_000199.5(SGSH):c.675C>G (p.Phe225Leu)	rs34520362
NM_000204.5(CFI):c.1006C>T (p.Arg336Ter)	rs759676430
NM_000204.5(CFI):c.1646del (p.Asn549fs)	rs1445308792
NM_000218.3(KCNQ1):c.1703G>A (p.Gly568Glu)	rs199472806
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs)	rs397508118
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu)	rs199473456
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)	rs61732874
NM_000252.3(MTM1):c.1261-10A>G	rs397518445
NM_000255.4(MMUT):c.785G>A (p.Ser262Asn)	rs1767683356
NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp)	rs397515905
NM_000257.4(MYH7):c.1664A>G (p.Asn555Ser)	rs876661215
NM_000260.4(MYO7A):c.4642del (p.Gly1547_Leu1548insTer)	rs1555100273
NM_000271.5(NPC1):c.2713C>T (p.Gln905Ter)	rs917070773
NM_000282.4(PCCA):c.1899+4_1899+7del	rs794727334
NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys)	rs863224148
NM_000286.3(PEX12):c.334C>T (p.Gln112Ter)	rs776731688
NM_000286.3(PEX12):c.730_733dup (p.Leu245fs)	rs61752107
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter)	rs121909224
NM_000314.8(PTEN):c.518G>A (p.Arg173His)	rs121913294
NM_000335.5(SCN5A):c.1140+1G>A	rs730880210
NM_000335.5(SCN5A):c.1218C>A (p.Asn406Lys)	rs199473108
NM_000335.5(SCN5A):c.4427A>C (p.Lys1476Thr)	rs2471558207
NM_000346.4(SOX9):c.508C>T (p.Pro170Ser)	rs866706988
NM_000352.6(ABCC8):c.2693G>A (p.Trp898Ter)	rs1382448285
NM_000352.6(ABCC8):c.3130_3149del (p.Thr1044fs)	rs886041392
NM_000352.6(ABCC8):c.4591A>C (p.Thr1531Pro)	rs796891223
NM_000383.4(AIRE):c.1265del (p.Pro422fs)	rs764878471
NM_000402.4(G6PD):c.1243T>C (p.Cys415Arg)	rs137852322
NM_000414.4(HSD17B4):c.868+1del	rs749532705
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs)	rs202247790
NM_000458.4(HNF1B):c.221T>A (p.Leu74Ter)	rs193922486
NM_000463.2(UGT1A1):c.-53_-52insTA	rs1559406508
NM_000466.3(PEX1):c.2097dup (p.Ile700fs)	rs61750415
NM_000466.3(PEX1):c.2468del (p.Pro823fs)	rs766947924
NM_000474.4(TWIST1):c.455C>A (p.Ala152Glu)	rs1554441982
NM_000478.6(ALPL):c.746G>T (p.Gly249Val)	rs121918018
NM_000481.4(AMT):c.16del (p.Ser6fs)	rs1553638907
NM_000481.4(AMT):c.797T>C (p.Leu266Pro)	rs2049051428
NM_000486.6(AQP2):c.97_119del (p.Asn33fs)	rs772201159
NM_000489.6(ATRX):c.6254G>A (p.Arg2085His)	rs1057517948
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu)	rs6471
NM_000512.5(GALNS):c.1019G>A (p.Gly340Asp)	rs267606838
NM_000527.5(LDLR):c.1284C>A (p.Asn428Lys)	rs368708058
NM_000527.5(LDLR):c.501C>A (p.Cys167Ter)	rs752596535
NM_000531.6(OTC):c.608C>T (p.Ser203Phe)	rs72558410
NM_000535.7(PMS2):c.917T>A (p.Val306Glu)	rs786201878
NM_000540.3(RYR1):c.10501dup (p.Asp3501fs)	rs1568537774
NM_000540.3(RYR1):c.11947C>T (p.Arg3983Cys)	rs1600989183
NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu)	rs794728696
NM_000540.3(RYR1):c.8342_8343del (p.Ile2781fs)	rs758580075
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu)	rs61749370
NM_000937.5(POLR2A):c.4252G>A (p.Gly1418Arg)	rs2070711917
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)	rs1616940
NM_001032386.2(SUOX):c.1390_1391del (p.Leu464fs)	rs1592831898
NM_001040142.2(SCN2A):c.2567G>A (p.Arg856Gln)	rs797045942
NM_001040142.2(SCN2A):c.4223T>C (p.Val1408Ala)	rs1574716488
NM_001040142.2(SCN2A):c.4877G>A (p.Arg1626Gln)	rs796053155
NM_001040142.2(SCN2A):c.5485C>T (p.Leu1829Phe)	rs1553463676
NM_001040142.2(SCN2A):c.781G>A (p.Val261Met)	rs1057520413
NM_001042492.3(NF1):c.1642G>C (p.Ala548Pro)	rs2066927450
NM_001042492.3(NF1):c.2531T>C (p.Leu844Pro)	rs137854566
NM_001080467.3(MYO5B):c.947G>T (p.Gly316Val)	rs971419104
NM_001089.3(ABCA3):c.3600CTT[3] (p.Phe1203del)	rs750862009
NM_001100.4(ACTA1):c.809G>A (p.Gly270Asp)	rs1553255362
NM_001103.4(ACTN2):c.355G>A (p.Ala119Thr)	rs727502886
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)	rs61749721
NM_001127222.2(CACNA1A):c.1439del (p.Arg480fs)	rs1555762908
NM_001134673.4(NFIA):c.2T>C (p.Met1Thr)	rs1553148514
NM_001142730.3(KCTD1):c.2009G>A (p.Gly670Asp)	rs587777003
NM_001164508.2(NEB):c.24579G>A (p.Ser8193=)	rs202048855
NM_001165963.4(SCN1A):c.5168C>T (p.Ser1723Phe)	rs796053099
NM_001170535.3(ATAD3A):c.1582C>T (p.Arg528Trp)	rs1057517686
NM_001170629.2(CHD8):c.4204C>T (p.Arg1402Ter)	rs1334692966
NM_001267550.2(TTN):c.12405del (p.Asn4135fs)	rs727503658
NM_001267550.2(TTN):c.86474T>G (p.Leu28825Ter)	rs794729297
NM_001271.4(CHD2):c.2636C>T (p.Ala879Val)	rs1555442813
NM_001276345.2(TNNT2):c.552G>C (p.Lys184Asn)	rs566113559
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter)	rs886041116
NM_001283.5(AP1S1):c.186T>G (p.Tyr62Ter)	rs981747624
NM_001286704.2(UFM1):c.-273_-271del	rs747359907
NM_001292034.3(TAB2):c.1764+1G>A	rs1782223593
NM_001321075.3(DLG4):c.1693+1G>A	rs2142825211
NM_001330260.2(SCN8A):c.424A>G (p.Ile142Val)	rs2138711868
NM_001356.5(DDX3X):c.874C>T (p.Arg292Ter)	rs1555953488
NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs)	rs530719719
NM_001363711.2(DUOX2):c.602dup (p.Gln202fs)	rs567500345
NM_001365536.1(SCN9A):c.1185C>G (p.Asn395Lys)	rs80356471
NM_001377142.1(PLCB4):c.1924G>A (p.Asp642Asn)	rs1568763104
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp)	rs886039392
NM_001395891.1(CLASP1):c.196-562G>T	rs370715569
NM_001395891.1(CLASP1):c.196-607G>A	rs180755563
NM_001451.3(FOXF1):c.256C>T (p.Arg86Trp)	rs2507450474
NM_001458.5(FLNC):c.4192A>T (p.Lys1398Ter)	rs1585162066
NM_001673.5(ASNS):c.666_667del (p.Phe223fs)	rs750420071
NM_001844.5(COL2A1):c.1924G>A (p.Gly642Arg)	rs794727472
NM_001845.6(COL4A1):c.2494G>A (p.Gly832Arg)	rs797044867
NM_001904.4(CTNNB1):c.1981C>T (p.Arg661Ter)	rs748294403
NM_001927.4(DES):c.35C>T (p.Ser12Phe)	rs267607495
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.2427G>A (p.Trp809Ter)	rs745516434
NM_002185.5(IL7R):c.704C>G (p.Ser235Ter)	rs766555082
NM_002351.5(SH2D1A):c.23A>C (p.His8Pro)	rs2522797252
NM_002382.5(MAX):c.179G>A (p.Arg60Gln)	rs2063106020
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp)	rs121434596
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg)	rs886037952
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val)	rs397507547
NM_002875.5(RAD51):c.877G>A (p.Ala293Thr)	rs1057519413
NM_003104.6(SORD):c.757del (p.Ala253fs)	rs55901542
NM_003482.4(KMT2D):c.10744C>T (p.Arg3582Trp)	rs1943085639
NM_003482.4(KMT2D):c.16295G>A (p.Arg5432Gln)	rs398123734
NM_003491.4(NAA10):c.346C>T (p.Arg116Trp)	rs587780563
NM_003859.3(DPM1):c.107A>T (p.Glu36Val)
NM_004035.7(ACOX1):c.710A>G (p.Asn237Ser)	rs1567876984
NM_004168.4(SDHA):c.1351C>T (p.Arg451Cys)	rs1553999752
NM_004168.4(SDHA):c.688del (p.Glu230fs)	rs1553998199
NM_004247.4(EFTUD2):c.2562-2_2562-1del	rs2050474390
NM_004444.5(EPHB4):c.1990G>A (p.Glu664Lys)	rs1562969219
NM_004519.4(KCNQ3):c.689G>A (p.Arg230His)	rs749205120
NM_004612.4(TGFBR1):c.763C>T (p.Arg255Cys)	rs1588585570
NM_004646.4(NPHS1):c.139del (p.Ala47fs)	rs386833882
NM_004646.4(NPHS1):c.621del (p.Ser208fs)	rs2146828521
NM_004944.4(DNASE1L3):c.290_291del (p.Thr97fs)	rs751206379
NM_004975.4(KCNB1):c.1223C>G (p.Pro408Arg)	rs2146813607
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met)	rs1555889162
NM_005052.3(RAC3):c.348G>C (p.Lys116Asn)	rs546702613
NM_005094.4(SLC27A4):c.1799_1800del (p.Glu600fs)	rs758657421
NM_005609.4(PYGM):c.2262del (p.Lys754fs)	rs398124210
NM_005859.5(PURA):c.691TTC[2] (p.Phe233del)	rs786204835
NM_005909.5(MAP1B):c.907C>T (p.Arg303Ter)	rs1554054831
NM_006009.4(TUBA1A):c.1246G>A (p.Gly416Ser)	rs1057521986
NM_006086.4(TUBB3):c.785G>A (p.Arg262His)	rs864321716
NM_006208.3(ENPP1):c.1025G>T (p.Gly342Val)	rs121918025
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)	rs863225082
NM_006245.4(PPP2R5D):c.632A>C (p.Gln211Pro)	rs1762136390
NM_006545.5(NPRL2):c.932+1G>A	rs1703621639
NM_006767.4(LZTR1):c.209A>G (p.Lys70Arg)	rs2518608560
NM_006767.4(LZTR1):c.2127dup (p.Ile710fs)	rs1188943579
NM_006767.4(LZTR1):c.677C>T (p.Pro226Leu)	rs2147964011
NM_006767.4(LZTR1):c.736C>T (p.Gln246Ter)	rs768702304
NM_006772.3(SYNGAP1):c.1167_1168del (p.Gly391fs)	rs1060503378
NM_006912.6(RIT1):c.244T>G (p.Phe82Val)	rs869025194
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu)	rs730881014
NM_007315.4(STAT1):c.1168A>G (p.Met390Val)	rs1574648919
NM_012062.5(DNM1L):c.436G>A (p.Asp146Asn)	rs1057523861
NM_012123.4(MTO1):c.1391G>T (p.Arg464Leu)	rs141970072
NM_012330.4(KAT6B):c.1864C>T (p.Arg622Ter)	rs1383727273
NM_013275.6(ANKRD11):c.7144C>T (p.Gln2382Ter)	rs2151730563
NM_014009.4(FOXP3):c.-23+1G>T	rs1602693008
NM_014009.4(FOXP3):c.1010G>A (p.Arg337Gln)	rs2066044949
NM_014009.4(FOXP3):c.1271G>A (p.Cys424Tyr)	rs2519185601
NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp)	rs1057523157
NM_014225.6(PPP2R1A):c.544C>T (p.Arg182Trp)	rs786205227
NM_017534.6(MYH2):c.5630T>C (p.Leu1877Pro)	rs2142289928
NM_020297.4(ABCC9):c.3460C>T (p.Arg1154Trp)	rs387907208
NM_020297.4(ABCC9):c.4018C>T (p.Gln1340Ter)	rs1158703930
NM_020320.5(RARS2):c.1A>G (p.Met1Val)	rs774923951
NM_020549.5(CHAT):c.982del (p.Asp328fs)	rs1590576560
NM_020988.3(GNAO1):c.604G>A (p.Val202Ile)	rs1297388989
NM_022114.4(PRDM16):c.213del (p.Val72fs)	rs1569798933
NM_024105.4(ALG12):c.1001del (p.Asn334fs)	rs759244819
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer)	rs775950661
NM_025152.2(NUBPL):c.[166G>A;815-27T>C]
NM_025193.4(HSD3B7):c.586G>A (p.Gly196Ser)	rs886044435
NM_032043.3(BRIP1):c.1234_1235del (p.Glu412fs)	rs1064795649
NM_032043.3(BRIP1):c.2992_2993del (p.Lys998fs)	rs878855151
NM_033629.6(TREX1):c.144del (p.Thr49fs)	rs748914604
NM_033629.6(TREX1):c.58dup (p.Glu20fs)	rs78300695
NM_054012.4(ASS1):c.774-2A>G	rs1588496214
NM_078480.3(PUF60):c.389G>A (p.Arg130His)	rs1554643584
NM_080605.4(B3GALT6):c.2T>C (p.Met1Thr)	rs969701761
NM_130466.4(UBE3B):c.1972C>T (p.Arg658Ter)	rs761700377
NM_133433.4(NIPBL):c.7168G>A (p.Ala2390Thr)	rs587784036
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs)	rs746972457
NM_139058.3(ARX):c.956C>A (p.Ser319Ter)	rs2048708701
NM_139276.3(STAT3):c.82A>G (p.Met28Val)	rs2145013673
NM_144773.4(PROKR2):c.254G>A (p.Arg85His)	rs74315418
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)	rs587778771
NM_152296.5(ATP1A3):c.2116G>A (p.Gly706Arg)	rs782175860
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His)	rs606231435
NM_152743.4(BRAT1):c.2125_2128del (p.Phe709fs)	rs763527391
NM_152743.4(BRAT1):c.638dup (p.Val214fs)	rs730880324
NM_153240.5(NPHP3):c.634dup (p.Glu212fs)	rs747052534
NM_170707.4(LMNA):c.1622G>A (p.Arg541His)	rs61444459
NM_172107.4(KCNQ2):c.2126dup (p.Val710fs)	rs1555850842
NM_172107.4(KCNQ2):c.430C>G (p.Arg144Gly)	rs1555873985
NM_172107.4(KCNQ2):c.782T>C (p.Phe261Ser)	rs796052631
NM_173689.7(CRB2):c.3089_3104dup (p.Gly1036fs)	rs879255251
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg)	rs869312840
NM_181486.4(TBX5):c.668C>T (p.Thr223Met)	rs1555225344
NM_182916.3(TRNT1):c.443C>T (p.Ala148Val)	rs761516140
NM_182925.5(FLT4):c.3121C>T (p.Arg1041Trp)	rs1451816005
NM_183235.3(RAB27A):c.423_424del (p.Arg141fs)	rs766575263
NM_183381.3(RNF13):c.882dup (p.Asp295Ter)
NM_198576.4(AGRN):c.5011C>T (p.Arg1671Ter)	rs745827541
NM_206538.4(EMC10):c.287del (p.Gly96fs)	rs770255014
Single allele
UGT1A1*28	rs3064744