Variants from Victorian Clinical Genetics Services, Murdoch Childrens Research Institute with conflicting interpretations

Minimum review status of the submission from Victorian Clinical Genetics Services, Murdoch Childrens Research Institute:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Victorian Clinical Genetics Services, Murdoch Childrens Research Institute:	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
6645	2327	18	1431	157	10	587	1978

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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute		pathogenic	likely pathogenic	uncertain significance	likely benign	benign	affects	drug response	other
	pathogenic	18	1190	184	5	3	6	3	0
	likely pathogenic	213	0	175	3	0	0	0	1
	uncertain significance	94	152	0	72	25	0	0	0
	likely benign	13	4	60	0	27	0	0	0
	benign	0	0	2	1	0	0	0	0

Submitter to submitter summary #

Submitter	Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
Labcorp Genetics (formerly Invitae), Labcorp	0	1089	5	82	76	0	95	258
Fulgent Genetics, Fulgent Genetics	0	612	0	153	4	0	36	193
OMIM	0	879	10	69	1	0	62	142
Counsyl	0	86	0	103	2	0	26	131
Natera, Inc.	0	416	0	94	4	0	28	126
Baylor Genetics	0	585	0	80	6	0	28	114
3billion	0	510	0	75	7	0	28	110
Revvity Omics, Revvity	0	340	0	68	4	0	25	97
Illumina Laboratory Services, Illumina	0	306	0	38	29	0	26	92
Genome-Nilou Lab	0	229	0	70	3	0	18	91
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	161	0	51	2	0	38	91
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	529	0	78	0	0	13	91
Institute of Human Genetics, University of Leipzig Medical Center	0	287	0	58	1	0	15	74
Department of Pathology and Laboratory Medicine, Sinai Health System	0	186	2	34	6	0	30	72
Variantyx, Inc.	0	203	1	51	0	0	9	61
Juno Genomics, Hangzhou Juno Genomics, Inc	0	188	0	34	1	0	14	49
Myriad Genetics, Inc.	0	178	0	41	2	0	5	48
Mendelics	0	202	0	25	7	0	11	43
MGZ Medical Genetics Center	0	145	0	37	1	0	4	42
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	124	0	38	0	0	2	40
Neuberg Centre For Genomic Medicine, NCGM	0	199	0	29	1	0	10	40
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	85	0	26	1	0	10	37
Genomics England Pilot Project, Genomics England	0	25	0	35	0	0	2	37
SIB Swiss Institute of Bioinformatics	0	15	0	24	0	0	3	27
Institute of Human Genetics Munich, TUM University Hospital	0	161	0	20	0	0	6	26
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	74	0	15	3	0	7	25
Genetics and Molecular Pathology, SA Pathology	0	120	0	22	0	0	2	24
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	108	0	21	0	0	3	24
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	82	0	18	0	0	6	24
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	112	0	12	3	0	8	23
Genetic Services Laboratory, University of Chicago	0	109	0	21	0	0	2	23
First Genomix Gene Laboratory, Genetic Diagnostics Department	0	101	0	16	0	0	6	22
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	40	0	13	0	0	7	20
Center for Medical Genetics Ghent, University of Ghent	0	11	0	13	1	0	5	19
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	0	131	0	12	0	0	7	19
Solve-RD Consortium	0	1	0	19	0	0	0	19
Department of Human Genetics, Hannover Medical School	0	75	0	17	0	0	1	18
Medical and Scientific Branch, Hong Kong Genome Institute	0	39	0	18	0	0	0	18
Laboratory of Genetics and Molecular Cardiology, University of São Paulo	0	6	0	11	1	0	5	17
NIHR Bioresource Rare Diseases, University of Cambridge	0	16	0	16	0	0	1	17
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	0	79	0	12	0	0	4	16
Knight Diagnostic Laboratories, Oregon Health and Sciences University	0	60	0	14	2	0	0	16
LDLR-LOVD, British Heart Foundation	0	9	0	13	1	0	2	16
Molecular Genetics, Royal Melbourne Hospital	0	99	0	15	0	0	1	16
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	0	16	0	12	0	0	3	15
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	46	0	14	0	0	0	14
Undiagnosed Diseases Network, NIH	0	40	0	12	0	0	2	14
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	32	0	9	0	0	4	13
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	0	64	0	12	0	0	1	13
Molecular Biology Laboratory, Fundació Puigvert	0	18	0	13	0	0	0	13
Robarts Research Institute, Western University	0	0	0	13	0	0	0	13
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine	0	36	0	9	0	0	3	12
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)	0	1	0	11	0	0	1	12
MVZ Martinsried, Medicover Genetics	0	27	0	6	1	0	5	12
New York Genome Center	0	62	0	8	2	0	2	12
Cavalleri Lab, Royal College of Surgeons in Ireland	0	13	0	7	0	0	4	11
Clinical Genetics Laboratory, Skane University Hospital Lund	0	24	0	9	0	0	2	11
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	0	48	0	8	0	0	3	11
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine	0	17	0	10	0	0	0	10
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam	0	21	0	2	0	0	8	10
Institute of Immunology and Genetics Kaiserslautern	0	57	0	4	0	0	6	10
Suma Genomics	0	20	0	8	0	0	2	10
CSER _CC_NCGL, University of Washington	0	9	0	4	2	0	3	9
Division of Human Genetics, Children's Hospital of Philadelphia	0	29	0	7	0	0	2	9
Dubai Health Genomic Medicine Center, Dubai Health	0	38	0	6	0	0	3	9
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	66	0	8	0	0	1	9
Kariminejad - Najmabadi Pathology & Genetics Center	0	10	0	7	0	0	2	9
Laboratoire de Génétique Moléculaire, CHU Bordeaux	0	15	0	7	0	0	2	9
Molecular Diagnostics Lab, Nemours Children's Health, Delaware	0	12	0	7	0	0	2	9
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	0	76	0	8	0	0	1	9
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute	0	27	0	6	1	0	1	8
All of Us Research Program, National Institutes of Health	0	70	0	7	0	0	1	8
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	36	0	6	0	0	2	8
Blueprint Genetics	0	24	0	5	0	0	3	8
Center of Genomic medicine, Geneva, University Hospital of Geneva	0	30	0	6	0	0	2	8
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix	0	8	0	7	0	0	1	8
Clinical Genomics Laboratory, Washington University in St. Louis	0	44	0	6	0	0	2	8
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg	0	19	0	5	0	0	3	8
Institute of Medical Molecular Genetics, University of Zurich	0	0	0	6	0	0	2	8
Johns Hopkins Genomics, Johns Hopkins University	0	68	0	5	0	0	3	8
Lifecell International Pvt. Ltd	0	34	0	8	0	0	0	8
NeuroMeGen, Hospital Clinico Santiago de Compostela	0	1	0	8	0	0	0	8
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	0	4	0	3	0	0	5	8
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill	0	29	0	7	0	0	1	8
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	0	33	0	8	0	0	0	8
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	0	37	0	4	0	0	3	7
CENTOGENE GmbH and LLC - Guiding Precision Medicine	0	67	0	6	0	0	1	7
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	0	17	0	7	0	0	0	7
Institute of Human Genetics, Heidelberg University	0	33	0	6	0	0	1	7
Reproductive Health Research and Development, BGI Genomics	0	34	1	3	1	0	2	7
University of Washington Center for Mendelian Genomics, University of Washington	0	2	0	6	0	0	1	7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	20	0	2	0	0	4	6
Center for Human Genetics, Inc, Center for Human Genetics, Inc	0	41	0	5	0	0	1	6
ClinVar Staff, National Center for Biotechnology Information (NCBI)	0	3	0	2	0	0	4	6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	28	0	4	0	0	2	6
Clinical Genomics Laboratory, Stanford Medicine	0	35	0	5	0	0	1	6
Color Diagnostics, LLC DBA Color Health	0	44	0	3	2	0	1	6
Dasa	0	67	0	6	0	0	0	6
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare	0	17	0	6	0	0	0	6
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	0	32	0	2	1	0	3	6
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital	0	20	0	3	0	0	3	6
National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center	0	0	0	0	0	6	0	6
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center	0	35	0	5	0	0	1	6
Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, Mayo Clinic	0	17	0	3	0	0	3	6
UCLA Clinical Genomics Center, UCLA	0	4	0	5	0	0	1	6
Ambry Genetics	0	29	0	4	0	0	1	5
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	0	19	0	4	0	0	1	5
Daryl Scott Lab, Baylor College of Medicine	0	37	0	3	0	0	2	5
GeneReviews	0	293	0	3	0	0	2	5
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital	0	15	0	5	0	0	0	5
Iberoamerican FH Network	0	4	0	4	0	0	1	5
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin	0	13	0	1	0	0	4	5
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	0	3	0	4	0	0	1	5
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova	0	5	0	5	0	0	0	5
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	0	8	0	4	1	0	0	5
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals	0	29	0	4	0	0	1	5
Ocular Genomics Institute, Massachusetts Eye and Ear	0	14	0	5	0	0	0	5
Paris Brain Institute, Inserm - ICM	0	20	0	3	1	0	1	5
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge	0	2	0	4	0	0	0	4
Centre of Medical Genetics, University Hospital Muenster	0	10	0	2	0	0	2	4
Fundacion Hipercolesterolemia Familiar	0	2	0	3	0	0	1	4
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub	0	14	0	3	0	0	1	4
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	33	0	2	0	0	2	4
Gharavi Laboratory, Columbia University	0	2	0	4	0	0	0	4
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino"	0	5	0	4	0	0	0	4
Institute of Human Genetics, Cologne University	0	7	0	2	0	0	2	4
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	0	8	0	4	0	0	0	4
Mayo Clinic Laboratories, Mayo Clinic	0	7	0	1	1	0	2	4
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust	0	16	0	3	0	0	1	4
Pars Genome Lab	0	2	0	0	0	0	4	4
Precision Medicine Center, Zhengzhou University	0	5	0	1	0	0	3	4
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur	0	0	0	4	0	0	0	4
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine	0	8	0	1	0	0	3	4
Arcensus	0	4	0	2	0	0	1	3
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine	0	3	0	3	0	0	0	3
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital	0	7	0	3	0	0	0	3
Breast Cancer Information Core (BIC) (BRCA2)	0	0	0	0	3	0	0	3
Center for Molecular Medicine, Children’s Hospital of Fudan University	0	9	0	3	0	0	0	3
Center of Human Genetics, Hôpital Erasme	0	19	0	3	0	0	0	3
Centre of Medical Genetics, University of Antwerp	0	7	0	2	0	0	1	3
ClinGen Coagulation Factor Deficiency Variant Curation Expert Panel, Clingen	0	2	0	0	3	0	0	3
ClinGen PAH Variant Curation Expert Panel	0	19	0	3	0	0	0	3
ClinPGx	0	0	0	0	0	3	0	3
Clinical Biochemistry Laboratory, Health Services Laboratory	0	13	0	2	0	0	1	3
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)	0	15	0	2	0	0	1	3
Department of Genetics, Sultan Qaboos University Hospital	0	19	0	2	0	0	1	3
Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania	0	0	0	1	0	0	2	3
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS	0	2	0	3	0	0	0	3
Eurofins-Biomnis	0	8	0	3	0	0	0	3
European Hospital Georges Pompidou Genetics Department, Assistance Publique - Hôpitaux de Paris AP-HP	0	12	0	3	0	0	0	3
Gene Discovery Core-Manton Center, Boston Children's Hospital	0	0	0	1	0	0	2	3
GeneDx	0	13	0	2	0	0	1	3
Genome Diagnostics Laboratory, The Hospital for Sick Children	0	19	0	1	0	0	2	3
Genomenon, Inc, Genomenon, Inc	0	11	0	2	1	0	0	3
Génétique des Maladies du Développement, Hospices Civils de Lyon	0	22	0	2	0	0	1	3
Hadassah Hebrew University Medical Center	0	23	0	2	0	0	1	3
Inherited Neuropathy Consortium Ii, University Of Miami	0	0	0	0	0	0	3	3
Institute for Human Genetics, University Hospital Essen	0	2	0	3	0	0	0	3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn	0	23	0	2	0	0	1	3
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital	0	18	0	2	0	0	1	3
KardioGenetik, Herz- und Diabeteszentrum NRW	0	3	0	0	0	0	3	3
Kids Neuroscience Centre, Sydney Children's Hospitals Network	0	13	0	2	0	0	1	3
Kids Research, The Children's Hospital at Westmead	0	3	0	3	0	0	0	3
Laboratory of Prof. Karen Avraham, Tel Aviv University	0	3	0	3	0	0	0	3
MVZ Medizinische Genetik Mainz	0	6	0	2	0	0	1	3
Medgenome Labs Pvt Ltd	0	2	0	2	1	0	0	3
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	0	6	0	1	0	0	2	3
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation	0	4	0	3	0	0	0	3
PDHA1 Study Group, University Children’s Hospital, Paracelsus Medical University	0	7	0	1	0	0	2	3
Service de Génétique Moléculaire, Hôpital Robert Debré	0	11	0	3	0	0	0	3
SingHealth Duke-NUS Institute of Precision Medicine	0	4	0	2	0	0	1	3
Sydney Genome Diagnostics, Children's Hospital Westmead	0	9	0	3	0	0	0	3
deCODE genetics, Amgen	0	3	0	2	0	0	1	3
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico	0	0	0	1	0	0	1	2
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	0	5	0	1	1	0	0	2
Cardiogenetics and Myogenetics Molecular and Cellular Functional Unit, Aphp Sorbonne University-Hopital Pitie Salpetriere	0	6	0	2	0	0	0	2
Center for Genetic Medicine Research, Children's National Medical Center	0	0	0	2	0	0	0	2
Center of Excellence for Medical Genomics, Chulalongkorn University	0	1	0	2	0	0	0	2
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals	0	10	0	2	0	0	0	2
Centre for Medical Genetics, Mumbai	0	0	0	0	0	0	2	2
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel	0	9	0	2	0	0	0	2
Clinical Genetics Laboratory, Region Ostergotland	0	18	0	2	0	0	0	2
Department of Genetics of Metabolic Diseases, Institute of Medical & Molecular Genetics, Hospital Universitario Hospital La Paz	0	3	0	1	0	0	1	2
Department of Internal Medicine, University of Texas Health Science Center at Houston	0	0	0	1	1	0	0	2
Department of Molecular Genetics, Istishari Arab Hospital	0	16	0	2	0	0	0	2
Department of Nephrology, Rheumatology and Immunology, Shanghai Children's Hospital	0	0	0	0	0	0	2	2
Department of Traditional Chinese Medicine, Fujian Provincial Hospital	0	3	0	2	0	0	0	2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	34	0	1	0	0	1	2
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center	0	2	0	2	0	0	0	2
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University	0	8	0	1	0	0	1	2
Dunham Lab, University of Washington	0	15	0	0	0	0	2	2
Elsea Laboratory, Baylor College of Medicine	0	9	0	0	0	0	2	2
Genetics Department, Catlab	0	6	0	2	0	0	0	2
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli	0	9	0	2	0	0	0	2
Genomic Medicine Lab, University of California San Francisco	0	19	0	2	0	0	0	2
Genomics And Bioinformatics Analysis Resource, Columbia University	0	9	0	2	0	0	0	2
Institute for Integrative and Experimental Genomics, University of Luebeck	0	0	0	2	0	0	0	2
Integrating Genomics into Medicine, Frazer Institute, University Of Queensland	0	9	0	1	0	0	1	2
King Laboratory, University of Washington	0	7	0	1	0	0	1	2
Laan Lab, Human Genetics Research Group, University of Tartu	0	2	0	2	0	0	0	2
Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics	0	1	0	0	0	0	2	2
Laboratory of Human Genetics, Universidade de São Paulo	0	2	0	1	0	0	1	2
Laboratory of Medical Genetics, University of Torino	0	7	0	1	0	0	1	2
Leiden Open Variation Database	0	4	0	1	0	0	1	2
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province	0	7	0	1	0	0	1	2
Medical Genetics, University of Parma	0	9	0	1	0	0	1	2
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital	0	2	0	2	0	0	0	2
Molecular Diagnosis Center for Deafness	0	2	0	1	0	0	1	2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota	0	6	0	2	0	0	0	2
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology	0	0	0	2	0	0	0	2
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health	0	1	0	2	0	0	0	2
OLLIN Analises Genomicas, OLLIN	0	38	0	0	0	0	2	2
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana	0	6	0	1	0	0	1	2
PPA2 laboratory, University of Otago	0	0	0	1	0	0	1	2
Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center	0	0	0	2	0	0	0	2
Provincial Medical Genetics Program of British Columbia, University of British Columbia	0	9	0	2	0	0	0	2
Randwick Genomics Laboratory, Prince of Wales Hospital Sydney, Australia, New South Wales Health Pathology	0	0	0	1	0	0	1	2
Reproductive Endocrine Unit, Massachusetts General Hospital	0	0	0	2	0	0	0	2
Roden Lab, Vanderbilt University Medical Center	0	3	0	2	0	0	0	2
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria	0	2	0	0	0	0	2	2
Sharing Clinical Reports Project (SCRP)	0	6	0	1	0	0	1	2
Sharon lab, Hadassah-Hebrew University Medical Center	0	6	0	2	0	0	0	2
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital	0	0	0	2	0	0	0	2
University of Iowa Renal Genetics Clinic, University of Iowa	0	1	0	1	1	0	0	2
(GEEPAD) Grupo de Estudio de la Enfermedad Poliquística Autosómica Dominante, Hospitales Universitarios Virgen de las Nieves y San Cecilio (Granada)	0	7	0	0	0	0	1	1
Aleixo Muise Laboratory, Hospital For Sick Children	0	1	0	1	0	0	0	1
Athena Diagnostics	0	8	0	1	0	0	0	1
Autoinflammatory diseases unit, CHU de Montpellier	0	9	0	1	0	0	0	1
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	0	4	0	0	0	0	1	1
Biochemistry Department, Nishtar Medical University	0	1	0	1	0	0	0	1
Bioinformatics Unit, Institut Pasteur de Montevideo	0	0	0	1	0	0	0	1
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar	0	1	0	0	0	0	1	1
Breakthrough Genomics, Breakthrough Genomics	0	14	0	1	0	0	0	1
Breast Cancer Information Core (BIC) (BRCA1)	0	5	0	0	1	0	0	1
Bruce Lefroy Centre, Murdoch Childrens Research Institute	0	3	0	1	0	0	0	1
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia	0	10	0	0	0	0	1	1
CHU Sainte-Justine Research Center, University of Montreal	0	1	0	1	0	0	0	1
Cardiology unit, Meyer University Hospital	0	0	0	0	0	0	1	1
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital	0	8	0	1	0	0	0	1
Care4Rare-SOLVE, CHEO	0	0	0	1	0	0	0	1
Cellular and Molecular Medicine Research Institute, Urmia University of Medical Sciences	0	1	0	0	0	0	1	1
Center for Human Genetics, University of Leuven	0	0	0	1	0	0	0	1
Center for Precision Medicine, University Hospital Brno	0	0	0	0	0	0	1	1
Center of Medical Genetics, Central South University	0	0	0	1	0	0	0	1
Centre for Human Genetics, University of Kinshasa	0	0	0	1	0	0	0	1
Centre for Population Genomics, CPG	0	17	0	1	0	0	0	1
Children's Medical Research Institute, University of Sydney	0	0	0	1	0	0	0	1
Chinese Inherited Urolithiasis Consortium, The Affiliated Yantai Yuhuangding Hospital of Qingdao University	0	3	0	1	0	0	0	1
ClinGen ACADVL Variant Curation Expert Panel, ClinGen	0	3	0	0	0	0	1	1
ClinGen Potassium Channel Arrhythmia Variant Curation Expert Panel, ClinGen	0	3	0	1	0	0	0	1
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel	0	8	0	1	0	0	0	1
ClinGen von Willebrand Disease Variant Curation Expert Panel, ClinGen	0	0	0	0	0	0	1	1
Clingen PTEN Variant Curation Expert Panel, Clingen	0	3	0	1	0	0	0	1
Clingen Thrombosis Variant Curation Expert Panel, ClinGen	0	1	0	1	0	0	0	1
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska"	0	0	0	0	0	0	1	1
Clinical Genetics and Genomics, Karolinska University Hospital	0	5	0	1	0	0	0	1
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	0	0	0	1	0	0	0	1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital	0	25	0	1	0	0	0	1
Coban-Akdemir Lab, University of Texas Health Science Center	0	0	0	0	0	0	1	1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital	0	2	0	1	0	0	0	1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia	0	1	0	0	0	0	1	1
Dan Cohn Lab, University Of California Los Angeles	0	1	0	1	0	0	0	1
Department of Biochemistry, Faculty of Medicine, University of Khartoum	0	0	0	0	0	0	1	1
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology	0	0	0	1	0	0	0	1
Department of Genetics, Robert DEBRE University Hospital	0	1	0	1	0	0	0	1
Department of Laboratory Medicine and Genetics, Trillium Health Partners Credit Valley Hospital	0	2	0	1	0	0	0	1
Department of Medical Genetics, Institute of Mother and Child, Institute of Mother and Child	0	0	0	1	0	0	0	1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences	0	5	0	1	0	0	0	1
Department of Otolaryngology Head and Neck Surgery, Hainan Hospital of the Chinese People’s Liberation Army General Hospital	0	4	0	1	0	0	0	1
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong	0	4	0	0	0	0	1	1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea	0	1	0	1	0	0	0	1
Department of Transfusion Medicine and Hemostaseology, University Hospital Erlangen	0	0	0	1	0	0	0	1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine	0	0	0	1	0	0	0	1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg	0	4	0	0	0	0	1	1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	0	3	0	1	0	0	0	1
Division of Biology and Genetics, University of Brescia	0	0	0	1	0	0	0	1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand	0	15	0	0	0	0	1	1
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi	0	0	0	0	0	1	0	1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ	0	0	0	1	0	0	0	1
Dr.Nikuei Genetic Center	0	2	0	0	1	0	0	1
Duke University Health System Sequencing Clinic, Duke University Health System	0	16	0	0	0	0	1	1
Département de Neurologie, Hospices Civils de Lyon	0	0	0	1	0	0	0	1
Embryology Laboratory, Victor Chang Cardiac Research Institute	0	0	0	1	0	0	0	1
Eurofins Ntd Llc (ga)	0	1	0	1	0	0	0	1
Felix Claverie-Martin Laboratory, Hospital Universitario Nuestra Senora de Candelaria	0	0	0	1	0	0	0	1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System	0	2	0	0	0	0	1	1
Geisinger Clinic, Geisinger Health System	0	2	0	1	0	0	0	1
Gene2Care/ Palmer Lab, University of New South Wales	0	0	0	1	0	0	0	1
Genetic Diseases Diagnostic Center, Koc University Hospital	0	0	0	1	0	0	0	1
Genetic Foundation of Khorasan Razavi (GFKR)	0	2	0	1	0	0	0	1
Genetics Department, Hospital Ramon y Cajal-IRYCIS	0	0	0	0	0	0	1	1
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences	0	5	0	1	0	0	0	1
Genetics and Genomics Program, Sidra Medicine	0	0	0	1	0	0	0	1
GenomeConnect - Simons Searchlight	0	11	0	1	0	0	0	1
Genomics, Clalit Research Institute, Clalit Health Care	0	0	0	1	0	0	0	1
Groupe Hospitalier Pitie Salpetriere, Uf Genomique Du Developpement, Assistance Publique Hopitaux de Paris Sorbonne Université	0	4	0	1	0	0	0	1
Hehr Laboratory, Center for Human Genetics Regensburg	0	0	0	0	0	0	1	1
Hereditary Research Laboratory, Bethlehem University	0	4	0	1	0	0	0	1
Houlden Lab, UCL Institute of Neurology	0	0	0	0	0	0	1	1
Human Genetics Bochum, Ruhr University Bochum	0	3	0	1	0	0	0	1
Inheritance Genetic Center	0	0	0	0	0	0	1	1
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre	0	1	0	0	0	0	1	1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	0	6	0	1	0	0	0	1
Institute for Genomic Medicine, Nationwide Children's Hospital	0	1	0	0	0	0	1	1
Institute of Genomics, University of Tartu	0	1	0	0	0	0	1	1
Institute of Human Genetics, University Hospital of Duesseldorf	0	13	0	1	0	0	0	1
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf	0	1	0	1	0	0	0	1
Institute of Human Genetics, University of Goettingen	0	1	0	1	0	0	0	1
Institute of Medical Genetics, University of Zurich	0	3	0	1	0	0	0	1
Institute of Molecular Medicine and Oncology, Chongqing Medical University	0	0	0	1	0	0	0	1
Institute of Rare Diseases, West China Hospital, Sichuan University	0	0	0	0	0	0	1	1
Intergen Genetics and Rare Diseases Diagnosis Center	0	15	0	1	0	0	0	1
Istanbul Faculty of Medicine, Istanbul University	0	1	0	1	0	0	0	1
KCCC/NGS Laboratory, Kuwait Cancer Control Center	0	1	0	1	0	0	0	1
KTest Genetics, KTest	0	4	0	1	0	0	0	1
Kamboh's Lab, University of Pittsburgh	0	0	0	1	0	0	0	1
Klaassen Lab, Charite University Medicine Berlin	0	0	0	0	1	0	0	1
Lab De Baere, Eye and Developmental Genetics Lab, Ghent University	0	2	0	1	0	0	0	1
Lab Thiel (Congenital Disorders of Glycosylation), Center for Child and Adolescent Medicine	0	0	0	1	0	0	0	1
Laboratoire de Biologie et Génétique du Cancer, Centre François Baclesse	0	0	0	0	1	0	0	1
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum	0	17	0	0	0	0	1	1
Laboratory of Functional Genomics, Research Centre for Medical Genetics	0	2	0	1	0	0	0	1
Laboratory of Genetics in Ophthalmology, Institut Imagine	0	4	0	1	0	0	0	1
Laboratory of Hematology, Radboud University Medical Center	0	1	0	1	0	0	0	1
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University	0	2	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, Children's Memorial Health Institute	0	0	0	1	0	0	0	1
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine	0	0	0	1	0	0	0	1
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II	0	3	0	1	0	0	0	1
MedGen Diagnostic Laboratory, MedGen Medical Centre	0	0	0	1	0	0	0	1
Medical Genetics, Karadeniz Technical University	0	0	0	1	0	0	0	1
Medical Molecular Genetics, National Research Centre	0	3	0	1	0	0	0	1
Miami Human Genetics, University Of Miami Miller School Of Medicine	0	0	0	0	0	0	1	1
Michigan Medical Genetics Laboratories, University of Michigan	0	1	0	0	1	0	0	1
Mitochondrial Research Group, Murdoch Children's Research Institute	0	0	0	1	0	0	0	1
Molecular Endocrinology Laboratory, Christian Medical College	0	0	0	1	0	0	0	1
Molecular Genetics Lab, CHRU Brest	0	9	0	1	0	0	0	1
Molecular Genetics Laboratory, Institute for Ophthalmic Research	0	2	0	1	0	0	0	1
Molecular Genetics Laboratory, Motol Hospital	0	0	0	1	0	0	0	1
Molecular Genetics Laboratory; Baylor College of Medicine	0	0	0	0	0	0	1	1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili	0	2	0	1	0	0	0	1
Molecular Pathology, Peter Maccallum Cancer Centre	0	15	0	1	0	0	0	1
Mount Sinai Diagnostic Laboratory, Icahn School of Medicine at Mount Sinai	0	0	0	0	0	0	1	1
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire	0	0	0	0	0	0	1	1
MyeliNeuroGene Lab, McGill University Health Center Research Institute	0	1	0	1	0	0	0	1
NHS Central & South Genomic Laboratory Hub	0	17	0	1	0	0	0	1
Neurogenetic Laboratory, Second Faculty of Medicine, Charles University	0	0	0	0	0	0	1	1
Neurogenetics Laboratory - MEYER, AOU Meyer	0	0	0	1	0	0	0	1
Neurogenetics Laboratory, Gh Pitie Salpetriere Aphp	0	0	0	1	0	0	0	1
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University	0	0	0	0	0	0	1	1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL)	0	6	0	1	0	0	0	1
NxGen MDx	0	1	0	1	0	0	0	1
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel	0	2	0	1	0	0	0	1
PG23_Medical Genetics Lab, ASST Papa Giovanni XXIII	0	0	0	1	0	0	0	1
Pediatric Department, Peking University First Hospital	0	0	0	1	0	0	0	1
Pediatric Genetics Clinic, Sheba Medical Center	0	8	0	1	0	0	0	1
Pediatric Immunology Service, The Chaim Sheba Medical Center at Tel HaShomer	0	0	0	0	0	0	1	1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital	0	0	0	0	0	0	1	1
Phosphorus, Inc.	0	7	0	0	0	0	1	1
Prenatal Diagnosis Center, Inner Mongolia Medical University	0	1	0	0	0	0	1	1
Prenatal Medicine Munich, Prenatal Medicine Munich	0	0	0	1	0	0	0	1
PreventionGenetics, part of Exact Sciences	0	13	0	1	0	0	0	1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences	0	1	0	0	0	0	1	1
Rare Disease Genomics Group, St George's University of London	0	3	0	0	0	0	1	1
Royal Brompton Clinical Genetics And Genomics Laboratory, NHS South East Genomic Laboratory Hub	0	0	0	1	0	0	0	1
Royal Medical Services, Bahrain Defence Force Hospital	0	0	0	1	0	0	0	1
Scripps Translational Science Institute, Scripps Health and The Scripps Research Institute	0	1	0	0	1	0	0	1
Service of Pediatric Gastrohepatology and Metabolic Diseases, University of Medicine of Tirana	0	3	0	1	0	0	0	1
Shaikh Laboratory, University of Colorado	0	0	0	1	0	0	0	1
Shanghai First Maternity and Infant Hospital, Tongji University	0	1	0	0	0	0	1	1
Sydney Children's Hospital, SCHN	0	0	0	0	0	0	1	1
Synevo Romania	0	1	0	1	0	0	0	1
The Shared Resource Centre "Genome", Research Centre for Medical Genetics	0	2	0	1	0	0	0	1
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille	0	13	0	1	0	0	0	1
UW Hindbrain Malformation Research Program, University of Washington	0	12	0	1	0	0	0	1
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health	0	0	0	0	0	0	1	1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	0	3	0	0	0	0	1	1
Versiti Diagnostic Laboratories, Versiti, Inc	0	1	0	0	0	0	1	1
Yale Center for Mendelian Genomics, Yale University	0	8	0	1	0	0	0	1
Zaffran Lab, Genetics of Cardiac Diseases Laboratory, Marseille Medical Genetics	0	0	0	0	0	0	1	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_014694.4(ADAMTSL2):c.1090G>A (p.Val364Ile)	rs35767802	0.25137
NM_000410.4(HFE):c.187C>G (p.His63Asp)	rs1799945	0.10170
NM_000140.5(FECH):c.315-48T>C	rs2272783	0.06828
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)	rs1800562	0.03738
NM_002283.4(KRT85):c.233G>A (p.Arg78His)	rs61630004	0.03613
NM_000017.4(ACADS):c.511C>T (p.Arg171Trp)	rs1800556	0.03280
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)	rs13078881	0.03225
NM_018127.7(ELAC2):c.1621G>A (p.Ala541Thr)	rs5030739	0.02910
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_000237.3(LPL):c.953A>G (p.Asn318Ser)	rs268	0.01327
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_000157.4(GBA1):c.1093G>A (p.Glu365Lys)	rs2230288	0.01061
NM_000410.4(HFE):c.193A>T (p.Ser65Cys)	rs1800730	0.00992
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)	rs35887622	0.00944
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr)	rs74653330	0.00674
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr)	rs202242769	0.00567
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter)	rs55960271	0.00561
NM_003041.4(SLC5A2):c.1961A>G (p.Asn654Ser)	rs61742739	0.00531
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu)	rs72553883	0.00518
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys)	rs144979397	0.00495
NM_000110.4(DPYD):c.1905+1G>A	rs3918290	0.00474
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)	rs76157638	0.00445
NM_002863.5(PYGL):c.1900G>C (p.Asp634His)	rs35026927	0.00426
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)	rs72474224	0.00393
NM_000152.5(GAA):c.-32-13T>G	rs386834236	0.00380
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_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_016038.4(SBDS):c.258+2T>C	rs113993993	0.00337
NM_006612.6(KIF1C):c.2099C>T (p.Pro700Leu)	rs148934699	0.00336
NM_000110.4(DPYD):c.2846A>T (p.Asp949Val)	rs67376798	0.00334
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro)	rs1800546	0.00319
NM_001386298.1(CIC):c.577A>T (p.Thr193Ser)	rs547565552	0.00316
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu)	rs41292677	0.00304
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val)	rs149989682	0.00293
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp)	rs116100695	0.00279
NM_000301.5(PLG):c.112A>G (p.Lys38Glu)	rs73015965	0.00279
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)	rs1800553	0.00269
NM_201631.4(TGM5):c.337G>T (p.Gly113Cys)	rs112292549	0.00252
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro)	rs200302125	0.00245
NM_004004.6(GJB2):c.-45C>A	rs397516868	0.00245
NM_002016.2(FLG):c.2476C>T (p.Arg826Ter)	rs115746363	0.00243
NM_000065.5(C6):c.2381+2T>C	rs76202909	0.00242
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr)	rs79389353	0.00239
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys)	rs1800386	0.00237
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg)	rs104893836	0.00236
NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn)	rs138480801	0.00230
NM_000153.4(GALC):c.334A>G (p.Thr112Ala)	rs147313927	0.00229
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys)	rs121434529	0.00219
NM_021870.3(FGG):c.323C>G (p.Ala108Gly)	rs148685782	0.00218
NM_005051.3(QARS1):c.25C>A (p.Leu9Ile)	rs62621067	0.00217
NM_000016.6(ACADM):c.127G>A (p.Glu43Lys)	rs147559466	0.00210
NM_031220.4(PITPNM3):c.1878G>C (p.Gln626His)	rs76024428	0.00209
NM_017411.4(SMN2):c.859G>C (p.Gly287Arg)	rs121909192	0.00208
NM_003413.4(ZIC3):c.49G>T (p.Gly17Cys)	rs147232392	0.00206
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His)	rs80359890	0.00205
NM_139027.6(ADAMTS13):c.1370C>T (p.Pro457Leu)	rs36220240	0.00201
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_000155.4(GALT):c.563A>G (p.Gln188Arg)	rs75391579	0.00184
NM_019098.5(CNGB3):c.1148del (p.Thr383fs)	rs397515360	0.00183
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_153700.2(STRC):c.4918C>T (p.Leu1640Phe)	rs2920791	0.00174
NM_017636.4(TRPM4):c.1575G>A (p.Trp525Ter)	rs71352737	0.00168
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)	rs61751374	0.00164
NM_001371986.1(UNC80):c.1806G>C (p.Gln602His)	rs200473652	0.00163
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala)	rs145588689	0.00162
NM_007055.4(POLR3A):c.1909+22G>A	rs191875469	0.00156
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met)	rs41292782	0.00151
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)	rs113994094	0.00151
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp)	rs121912616	0.00150
NM_001943.5(DSG2):c.166G>A (p.Val56Met)	rs121913013	0.00150
NM_001177316.2(SLC34A3):c.756G>A (p.Gln252=)	rs121918239	0.00149
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)	rs28940579	0.00147
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His)	rs1800552	0.00147
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_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)	rs75184679	0.00141
NM_000506.3(F2):c.598G>A (p.Glu200Lys)	rs62623459	0.00138
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)	rs80338902	0.00137
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met)	rs58331765	0.00136
NM_005726.6(TSFM):c.856C>T (p.Gln286Ter)	rs201754030	0.00136
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu)	rs104893941	0.00133
NM_000406.3(GNRHR):c.785G>A (p.Arg262Gln)	rs104893837	0.00132
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_000104.4(CYP1B1):c.1103G>A (p.Arg368His)	rs79204362	0.00125
NR_003051.4(RMRP):n.72A>G	rs199476103	0.00123
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn)	rs6475	0.00117
NM_001080483.3(MYMK):c.271C>A (p.Pro91Thr)	rs137868995	0.00116
NM_007254.4(PNKP):c.1029+2T>C	rs199919568	0.00111
NM_000488.4(SERPINC1):c.1246G>T (p.Ala416Ser)	rs121909548	0.00110
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser)	rs143978652	0.00109
NM_001041.4(SI):c.5234T>G (p.Phe1745Cys)	rs79717168	0.00108
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr)	rs56264519	0.00108
NM_001377.3(DYNC2H1):c.11263A>G (p.Met3755Val)	rs137853026	0.00105
NM_005422.4(TECTA):c.1085G>T (p.Ser362Ile)	rs149001418	0.00104
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser)	rs141659620	0.00102
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg)	rs191312027	0.00101
NM_024063.3(AFG2B):c.527G>T (p.Gly176Val)	rs145451123	0.00098
NM_213599.3(ANO5):c.692G>T (p.Gly231Val)	rs137854523	0.00098
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)	rs121918054	0.00093
NM_004004.6(GJB2):c.-23G>T	rs786204734	0.00090
NM_005921.2(MAP3K1):c.710A>G (p.Gln237Arg)	rs55694258	0.00088
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp)	rs142572218	0.00087
NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter)	rs74315329	0.00086
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_000552.5(VWF):c.1625C>G (p.Ala542Gly)	rs141649383	0.00074
NM_152383.5(DIS3L2):c.1447C>G (p.Arg483Gly)	rs186865544	0.00073
NM_000402.4(G6PD):c.934G>C (p.Asp312His)	rs137852318	0.00072
NM_001127178.3(PIGG):c.1515G>A (p.Trp505Ter)	rs150259543	0.00072
NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys)	rs201758548	0.00071
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp)	rs61746008	0.00070
NM_023936.2(MRPS34):c.94C>T (p.Gln32Ter)	rs763672163	0.00070
NM_152743.4(BRAT1):c.826G>A (p.Asp276Asn)	rs146546197	0.00070
NM_176869.3(PPA2):c.514G>A (p.Glu172Lys)	rs146013446	0.00069
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His)	rs200324356	0.00068
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg)	rs121908529	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_000271.5(NPC1):c.3011C>T (p.Ser1004Leu)	rs150334966	0.00066
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser)	rs139203363	0.00066
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)	rs80338945	0.00066
NM_198076.6(COX20):c.157+3G>C	rs367956888	0.00066
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu)	rs41276525	0.00065
NM_013339.4(ALG6):c.257+5G>A	rs199682486	0.00065
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln)	rs149514924	0.00063
NM_001086521.2(NDUFAF8):c.195+271C>T	rs745332456	0.00063
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter)	rs201587138	0.00063
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp)	rs145843073	0.00063
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln)	rs146251364	0.00063
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro)	rs145303331	0.00062
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)	rs549794342	0.00061
NM_001369.3(DNAH5):c.1121T>C (p.Ile374Thr)	rs147499872	0.00060
NM_004092.4(ECHS1):c.489G>A (p.Pro163=)	rs140410716	0.00060
NM_001267550.2(TTN):c.68824G>A (p.Glu22942Lys)	rs199506676	0.00059
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp)	rs111033222	0.00059
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met)	rs150591260	0.00059
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala)	rs191564916	0.00057
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met)	rs143319805	0.00057
NM_004004.6(GJB2):c.-22-2A>C	rs201895089	0.00056
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)	rs148660051	0.00056
NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu)	rs9378251	0.00055
NM_001943.5(DSG2):c.437G>T (p.Arg146Leu)	rs113451409	0.00054
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln)	rs74315342	0.00054
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg)	rs141103838	0.00054
NM_000275.3(OCA2):c.1255C>T (p.Arg419Trp)	rs143218168	0.00052
NM_017646.6(TRIT1):c.979C>T (p.Arg327Ter)	rs144042123	0.00052
NM_025137.4(SPG11):c.1384T>C (p.Cys462Arg)	rs139019255	0.00052
NM_002150.3(HPD):c.1005C>G (p.Ile335Met)	rs137852868	0.00051
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys)	rs116171274	0.00051
NM_018130.3(SHQ1):c.523G>T (p.Asp175Tyr)	rs143636968	0.00051
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val)	rs200911496	0.00049
NM_000262.3(NAGA):c.479C>G (p.Ser160Cys)	rs121434532	0.00049
NM_007272.3(CTRC):c.703G>A (p.Val235Ile)	rs140993290	0.00049
NM_000277.3(PAH):c.734T>C (p.Val245Ala)	rs76212747	0.00048
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln)	rs61750641	0.00048
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly)	rs200525962	0.00048
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)	rs141138948	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_000521.4(HEXB):c.1250C>T (p.Pro417Leu)	rs28942073	0.00047
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser)	rs202088921	0.00047
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)	rs76434661	0.00047
NM_020376.4(PNPLA2):c.236G>A (p.Arg79Gln)	rs139576982	0.00047
NM_000312.4(PROC):c.565C>T (p.Arg189Trp)	rs146922325	0.00046
NM_001146079.2(CLDN14):c.488C>T (p.Ala163Val)	rs143797113	0.00046
NM_145199.3(LIPT1):c.875C>G (p.Ser292Ter)	rs137891647	0.00045
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys)	rs183105855	0.00044
NM_001145165.2(DOHH):c.455C>T (p.Pro152Leu)	rs553950608	0.00044
NM_002887.4(RARS1):c.1367C>T (p.Ser456Leu)	rs139644798	0.00044
NM_173543.3(DZIP1L):c.256G>T (p.Val86Leu)	rs142726001	0.00044
NM_176869.3(PPA2):c.683C>T (p.Pro228Leu)	rs138215926	0.00044
NM_000169.3(GLA):c.376A>G (p.Ser126Gly)	rs149391489	0.00043
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser)	rs190521996	0.00042
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys)	rs121964857	0.00042
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg)	rs138977195	0.00041
NM_004415.4(DSP):c.5167G>C (p.Glu1723Gln)	rs142803672	0.00041
NM_014251.3(SLC25A13):c.2T>C (p.Met1Thr)	rs541276426	0.00041
NM_020117.11(LARS1):c.1292T>A (p.Val431Asp)	rs150429680	0.00041
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys)	rs200179145	0.00041
NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser)	rs55886062	0.00040
NM_000204.5(CFI):c.355G>A (p.Gly119Arg)	rs141853578	0.00040
NM_025150.5(TARS2):c.773C>T (p.Ser258Leu)	rs145039072	0.00040
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys)	rs201697532	0.00039
NM_000169.3(GLA):c.427G>A (p.Ala143Thr)	rs104894845	0.00039
NM_000199.5(SGSH):c.734G>A (p.Arg245His)	rs104894635	0.00039
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter)	rs137852700	0.00038
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)	rs140455771	0.00038
NM_001395891.1(CLASP1):c.196-567G>A	rs559979281	0.00038
NM_019616.4(F7):c.995C>T (p.Ala332Val)	rs36209567	0.00038
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr)	rs147472391	0.00036
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)	rs62642937	0.00036
NM_002016.2(FLG):c.3321del (p.Gly1109fs)	rs200519781	0.00036
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu)	rs28939378	0.00036
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser)	rs34637584	0.00036
NM_000203.5(IDUA):c.1577T>C (p.Leu526Pro)	rs781136336	0.00035
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)	rs13073139	0.00035
NM_005373.3(MPL):c.305G>C (p.Arg102Pro)	rs28928907	0.00035
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys)	rs199946797	0.00035
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro)	rs80338848	0.00034
NM_001142800.2(EYS):c.2137+1G>A	rs199740930	0.00034
NM_012452.3(TNFRSF13B):c.260T>A (p.Ile87Asn)	rs72553877	0.00034
NM_014444.5(TUBGCP4):c.1746G>T (p.Leu582=)	rs200092283	0.00034
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)	rs140522266	0.00034
NM_152743.4(BRAT1):c.955G>A (p.Val319Ile)	rs140903769	0.00034
NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg)	rs199473182	0.00033
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys)	rs201477273	0.00033
NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys)	rs147415451	0.00033
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser)	rs190598500	0.00032
NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser)	rs61761869	0.00032
NM_000350.3(ABCA4):c.5714+5G>A	rs61751407	0.00032
NM_000536.4(RAG2):c.644C>T (p.Thr215Ile)	rs35691292	0.00032
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys)	rs148812376	0.00032
NM_001346754.2(PIGW):c.106A>G (p.Arg36Gly)	rs142067039	0.00032
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)	rs121908096	0.00031
NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter)	rs201337954	0.00031
NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter)	rs34295337	0.00030
NM_000277.3(PAH):c.194T>C (p.Ile65Thr)	rs75193786	0.00030
NM_000277.3(PAH):c.688G>A (p.Val230Ile)	rs62516152	0.00030
NM_001256071.3(RNF213):c.14429G>A (p.Arg4810Lys)	rs112735431	0.00030
NM_033629.6(TREX1):c.341G>A (p.Arg114His)	rs72556554	0.00030
NM_000350.3(ABCA4):c.5461-10T>C	rs1800728	0.00029
NM_001009944.3(PKD1):c.7937T>C (p.Ile2646Thr)	rs374500158	0.00029
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_001134363.3(RBM20):c.3115C>T (p.Pro1039Ser)	rs727503392	0.00028
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala)	rs28940279	0.00027
NM_000137.4(FAH):c.1062+5G>A	rs80338901	0.00027
NM_001363.5(DKC1):c.838A>C (p.Ser280Arg)	rs146700772	0.00027
NM_001930.4(DHPS):c.1014+1G>A	rs142633494	0.00027
NM_002055.5(GFAP):c.667G>C (p.Glu223Gln)	rs56679084	0.00027
NM_014239.4(EIF2B2):c.599G>T (p.Gly200Val)	rs113994012	0.00027
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr)	rs148044781	0.00026
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys)	rs137852339	0.00026
NM_006258.4(PRKG1):c.1466A>T (p.Tyr489Phe)	rs149710600	0.00026
NM_016648.4(LARP7):c.320C>T (p.Thr107Ile)	rs200393300	0.00026
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser)	rs143712760	0.00026
NM_153240.5(NPHP3):c.2694-2_2694-1del	rs751527253	0.00026
NM_000132.4(F8):c.3169G>A (p.Glu1057Lys)	rs28933673	0.00025
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)	rs142441643	0.00025
NM_014000.3(VCL):c.1294C>G (p.Leu432Val)	rs144146254	0.00025
NM_016146.6(TRAPPC4):c.454+3A>G	rs375776811	0.00025
NM_022095.4(ZNF335):c.3998A>G (p.Glu1333Gly)	rs200635860	0.00025
NM_172201.2(KCNE2):c.29C>T (p.Thr10Met)	rs199473648	0.00025
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn)	rs201307101	0.00024
NM_000066.4(C8B):c.271C>T (p.Gln91Ter)	rs146187042	0.00023
NM_000096.4(CP):c.2158C>T (p.Arg720Trp)	rs145784949	0.00023
NM_001148.6(ANK2):c.4315G>T (p.Gly1439Cys)	rs34591340	0.00023
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln)	rs121912707	0.00023
NM_001005242.3(PKP2):c.302G>A (p.Arg101His)	rs149542398	0.00022
NM_176869.3(PPA2):c.380G>T (p.Arg127Leu)	rs139076647	0.00022
NM_000132.4(F8):c.396A>C (p.Glu132Asp)	rs137852388	0.00021
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val)	rs199897298	0.00021
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu)	rs121918167	0.00021
NM_001061.7(TBXAS1):c.1235G>A (p.Arg412Gln)	rs199422117	0.00021
NM_001385.3(DPYS):c.1469G>A (p.Arg490His)	rs189448963	0.00021
NM_001999.4(FBN2):c.8282C>T (p.Ala2761Val)	rs201962592	0.00021
NM_133459.4(CCBE1):c.472C>T (p.Arg158Cys)	rs121908253	0.00021
NM_201596.3(CACNB2):c.380C>T (p.Ala127Val)	rs200367454	0.00021
NM_000157.4(GBA1):c.1342G>C (p.Asp448His)	rs1064651	0.00020
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val)	rs201502401	0.00020
NM_004415.4(DSP):c.8467C>G (p.Pro2823Ala)	rs142717240	0.00020
NM_005921.2(MAP3K1):c.934A>T (p.Met312Leu)	rs376808920	0.00020
NM_024339.5(THOC6):c.298T>A (p.Trp100Arg)	rs138632121	0.00020
NM_024339.5(THOC6):c.700G>C (p.Val234Leu)	rs150940923	0.00020
NM_024339.5(THOC6):c.824G>A (p.Gly275Asp)	rs200426926	0.00020
NM_000083.3(CLCN1):c.180+3A>T	rs202217420	0.00019
NM_000092.5(COL4A4):c.4715C>T (p.Pro1572Leu)	rs121912863	0.00019
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp)	rs61750168	0.00019
NM_000277.3(PAH):c.506G>A (p.Arg169His)	rs199475679	0.00019
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys)	rs61750120	0.00019
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro)	rs28939086	0.00019
NM_001089.3(ABCA3):c.838C>T (p.Arg280Cys)	rs201299260	0.00019
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs)	rs397515540	0.00019
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter)	rs121918358	0.00019
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)	rs80338948	0.00019
NM_007255.3(B4GALT7):c.38G>A (p.Trp13Ter)	rs200503833	0.00019
NM_017433.5(MYO3A):c.2506-1G>A	rs201023600	0.00019
NM_021828.5(HPSE2):c.1465_1466del (p.Asn489fs)	rs397515338	0.00019
NM_053013.4(ENO3):c.467G>A (p.Gly156Asp)	rs121918403	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_000441.2(SLC26A4):c.919-2A>G	rs111033313	0.00018
NM_000527.5(LDLR):c.345C>G (p.Arg115=)	rs150144164	0.00018
NM_001126108.2(SLC12A3):c.2549T>C (p.Leu850Pro)	rs121909379	0.00018
NM_005373.3(MPL):c.79+2T>A	rs146249964	0.00018
NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp)	rs121918222	0.00018
NM_014270.5(SLC7A9):c.313G>A (p.Gly105Arg)	rs121908480	0.00018
NM_020320.5(RARS2):c.754T>A (p.Tyr252Asn)	rs140692271	0.00018
NM_000104.4(CYP1B1):c.182G>A (p.Gly61Glu)	rs28936700	0.00017
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln)	rs141498002	0.00017
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser)	rs137853096	0.00017
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe)	rs145254330	0.00017
NM_004004.6(GJB2):c.-23+1G>A	rs80338940	0.00017
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe)	rs202020308	0.00017
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg)	rs200287952	0.00016
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln)	rs9332964	0.00016
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys)	rs80034486	0.00016
NM_001177316.2(SLC34A3):c.448+1G>A	rs150841256	0.00016
NM_003803.4(MYOM1):c.1204C>T (p.Arg402Trp)	rs371754365	0.00016
NM_004004.6(GJB2):c.355G>A (p.Glu119Lys)	rs150529554	0.00016
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg)	rs200672755	0.00016
NM_006767.4(LZTR1):c.264-13G>A	rs587777176	0.00016
NM_014625.4(NPHS2):c.790G>C (p.Glu264Gln)	rs369697947	0.00016
NR_003051.4(RMRP):n.240C>T	rs749667892	0.00016
NM_000275.3(OCA2):c.2020C>G (p.Leu674Val)	rs371412500	0.00015
NM_000277.3(PAH):c.782G>A (p.Arg261Gln)	rs5030849	0.00015
NM_001134363.3(RBM20):c.2014G>A (p.Gly672Ser)	rs730880182	0.00015
NM_001276345.2(TNNT2):c.692T>C (p.Ile231Thr)	rs45520032	0.00015
NM_001378778.1(MPDZ):c.4469del (p.Gln1490fs)	rs781251438	0.00015
NM_014140.4(SMARCAL1):c.2114C>T (p.Thr705Ile)	rs200644381	0.00015
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp)	rs28941784	0.00015
NM_000303.3(PMM2):c.442G>A (p.Asp148Asn)	rs148032587	0.00014
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser)	rs121907954	0.00014
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu)	rs140012781	0.00014
NM_002294.3(LAMP2):c.1093+2478A>G	rs140936359	0.00014
NM_014270.5(SLC7A9):c.782C>T (p.Pro261Leu)	rs121908486	0.00014
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile)	rs34647222	0.00014
NM_024339.5(THOC6):c.569G>A (p.Gly190Glu)	rs199795381	0.00014
NM_033124.5(DRC2):c.683A>T (p.Asp228Val)	rs142550817	0.00014
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg)	rs121434274	0.00013
NM_000035.4(ALDOB):c.911G>A (p.Arg304Gln)	rs145078268	0.00013
NM_000053.4(ATP7B):c.3243+5G>A	rs373193482	0.00013
NM_001077350.3(NPRL3):c.997G>A (p.Val333Ile)	rs367664536	0.00013
NM_001130823.3(DNMT1):c.382C>A (p.Pro128Thr)	rs146601335	0.00013
NM_001369.3(DNAH5):c.4361G>A (p.Arg1454Gln)	rs542708170	0.00013
NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys)	rs756856188	0.00013
NM_002880.4(RAF1):c.1721A>G (p.Tyr574Cys)	rs370242565	0.00013
NM_004168.4(SDHA):c.1A>G (p.Met1Val)	rs1061517	0.00013
NM_005908.4(MANBA):c.1499G>A (p.Arg500His)	rs147542645	0.00013
NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter)	rs119473033	0.00013
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys)	rs200094982	0.00013
NM_147127.5(EVC2):c.2848C>T (p.Arg950Trp)	rs137852928	0.00013
NM_181840.1(KCNK18):c.361dup (p.Tyr121fs)	rs541915908	0.00013
NM_182961.4(SYNE1):c.9604C>T (p.Arg3202Cys)	rs749550071	0.00013
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)	rs201527662	0.00013
NM_000053.4(ATP7B):c.347T>C (p.Ile116Thr)	rs199773340	0.00012
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)	rs61752717	0.00012
NM_000552.5(VWF):c.7390C>T (p.Arg2464Cys)	rs61751286	0.00012
NM_001360016.2(G6PD):c.477G>C (p.Met159Ile)	rs370918918	0.00012
NM_004092.4(ECHS1):c.518C>T (p.Ala173Val)	rs150321966	0.00012
NM_018699.4(PRDM5):c.248G>A (p.Arg83His)	rs201945549	0.00012
NM_019109.5(ALG1):c.1187+3A>G	rs369160589	0.00012
NM_144991.3(TSPEAR):c.1528C>T (p.Arg510Ter)	rs201663789	0.00012
NM_000093.5(COL5A1):c.1832G>A (p.Arg611Gln)	rs200590188	0.00011
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg)	rs397516050	0.00011
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)	rs118192172	0.00011
NM_001079866.2(BCS1L):c.205C>T (p.Arg69Cys)	rs377025174	0.00011
NM_001377304.1(GFI1B):c.503G>T (p.Cys168Phe)	rs527297896	0.00011
NM_001384474.1(LOXHD1):c.1759C>T (p.Arg587Trp)	rs540100675	0.00011
NM_003359.4(UGDH):c.193C>T (p.Arg65Ter)	rs200059198	0.00011
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg)	rs104894397	0.00011
NM_004004.6(GJB2):c.23C>T (p.Thr8Met)	rs529500747	0.00011
NM_015141.4(GPD1L):c.839C>T (p.Ala280Val)	rs72552291	0.00011
NM_015386.3(COG4):c.1927T>C (p.Phe643Leu)	rs189821897	0.00011
NM_015910.7(WDPCP):c.160G>A (p.Asp54Asn)	rs200322968	0.00011
NM_016239.4(MYO15A):c.8183G>A (p.Arg2728His)	rs184435771	0.00011
NM_024596.5(MCPH1):c.1561G>T (p.Glu521Ter)	rs572671721	0.00011
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu)	rs143344549	0.00011
NM_000275.3(OCA2):c.1363A>G (p.Arg455Gly)	rs200764804	0.00010
NM_000402.4(G6PD):c.961G>A (p.Val321Met)	rs137852327	0.00010
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys)	rs201118034	0.00010
NM_000487.6(ARSA):c.511G>A (p.Asp171Asn)	rs74315466	0.00010
NM_001035.3(RYR2):c.9067+10C>T	rs372631657	0.00010
NM_016327.3(UPB1):c.105-2A>G	rs138081800	0.00010
NM_018706.7(DHTKD1):c.1309G>T (p.Glu437Ter)	rs138884194	0.00010
NM_025216.3(WNT10A):c.149C>T (p.Pro50Leu)	rs199980023	0.00010
NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys)	rs137853197	0.00010
NM_144773.4(PROKR2):c.868C>T (p.Pro290Ser)	rs149992595	0.00010
NM_152564.5(VPS13B):c.6657+1G>A	rs180177366	0.00010
NM_000059.4(BRCA2):c.3262C>T (p.Pro1088Ser)	rs80358572	0.00009
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter)	rs151242354	0.00009
NM_000170.3(GLDC):c.2607C>A (p.Pro869=)	rs386833565	0.00009
NM_000317.3(PTS):c.317C>T (p.Thr106Met)	rs200712908	0.00009
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp)	rs121909011	0.00009
NM_001038603.3(MARVELD2):c.1498C>T (p.Arg500Ter)	rs118203957	0.00009
NM_001083961.2(WDR62):c.1043+3A>G	rs587784541	0.00009
NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His)	rs121909380	0.00009
NM_001134363.3(RBM20):c.3595G>A (p.Glu1199Lys)	rs777768807	0.00009
NM_001166114.2(PNPLA6):c.2939G>C (p.Gly980Ala)	rs201902695	0.00009
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter)	rs373740199	0.00009
NM_001395891.1(CLASP1):c.196-591C>T	rs756026847	0.00009
NM_004092.4(ECHS1):c.476A>G (p.Gln159Arg)	rs375032130	0.00009
NM_004771.4(MMP20):c.103A>C (p.Arg35=)	rs61751462	0.00009
NM_005560.6(LAMA5):c.8842G>A (p.Gly2948Ser)	rs529211517	0.00009
NM_006659.4(TUBGCP2):c.889C>T (p.Arg297Cys)	rs200129338	0.00009
NM_012472.6(DNAAF11):c.299T>C (p.Ile100Thr)	rs139008774	0.00009
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu)	rs199826737	0.00009
NM_016327.3(UPB1):c.873+1G>A	rs747539101	0.00009
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp)	rs121908173	0.00009
NM_030813.6(CLPB):c.736+2T>C	rs201350869	0.00009
NM_033419.5(PGAP3):c.558-10G>A	rs200598755	0.00009
NM_152268.4(PARS2):c.283G>A (p.Val95Ile)	rs147227819	0.00009
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro)	rs79761867	0.00009
NM_206933.4(USH2A):c.12332C>T (p.Ser4111Phe)	rs142095945	0.00009
NM_213622.4(STAMBP):c.112C>T (p.Arg38Cys)	rs143739249	0.00009
NM_000017.4(ACADS):c.1147C>T (p.Arg383Cys)	rs28940872	0.00008
NM_000091.5(COL4A3):c.2452G>A (p.Gly818Arg)	rs868002181	0.00008
NM_000132.4(F8):c.6089G>A (p.Ser2030Asn)	rs369414658	0.00008
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly)	rs5030856	0.00008
NM_001009944.3(PKD1):c.6878C>T (p.Pro2293Leu)	rs530832015	0.00008
NM_001126108.2(SLC12A3):c.1664C>T (p.Ser555Leu)	rs148038173	0.00008
NM_001126108.2(SLC12A3):c.2186G>T (p.Gly729Val)	rs373901523	0.00008
NM_001126108.2(SLC12A3):c.2864G>A (p.Arg955Gln)	rs202114767	0.00008
NM_001126108.2(SLC12A3):c.2954G>A (p.Cys985Tyr)	rs199849117	0.00008
NM_001171.6(ABCC6):c.4015C>T (p.Arg1339Cys)	rs28939702	0.00008
NM_004004.6(GJB2):c.283G>A (p.Val95Met)	rs111033299	0.00008
NM_016239.4(MYO15A):c.4777G>A (p.Glu1593Lys)	rs376469502	0.00008
NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter)	rs376161880	0.00008
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val)	rs369925690	0.00008
NM_000059.4(BRCA2):c.9501+3A>T	rs61757642	0.00007
NM_000093.5(COL5A1):c.1831C>T (p.Arg611Trp)	rs147329970	0.00007
NM_000133.4(F9):c.1346G>A (p.Arg449Gln)	rs143018900	0.00007
NM_000140.5(FECH):c.1001C>T (p.Pro334Leu)	rs150146721	0.00007
NM_000190.4(HMBS):c.532G>A (p.Asp178Asn)	rs536814318	0.00007
NM_000293.3(PHKB):c.1127-2A>G	rs535749057	0.00007
NM_000402.4(G6PD):c.185A>G (p.His62Arg)	rs137852340	0.00007
NM_001083116.3(PRF1):c.386G>C (p.Trp129Ser)	rs768849283	0.00007
NM_001134363.3(RBM20):c.2116C>A (p.Pro706Thr)	rs373797219	0.00007
NM_001365999.1(SZT2):c.7474C>T (p.Arg2492Trp)	rs373062274	0.00007
NM_001377.3(DYNC2H1):c.10322T>C (p.Leu3441Pro)	rs771487311	0.00007
NM_004183.4(BEST1):c.602T>C (p.Ile201Thr)	rs199529046	0.00007
NM_013275.6(ANKRD11):c.6910G>A (p.Glu2304Lys)	rs905177395	0.00007
NM_017831.4(RNF125):c.24C>G (p.Asp8Glu)	rs759640087	0.00007
NM_019023.5(PRMT7):c.1056-1G>T	rs201824659	0.00007
NM_053025.4(MYLK):c.2462+5G>A	rs374003770	0.00007
NM_000018.4(ACADVL):c.947G>A (p.Arg316Gln)	rs147366714	0.00006
NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln)	rs121434548	0.00006
NM_000132.4(F8):c.1094A>G (p.Tyr365Cys)	rs375241473	0.00006
NM_000152.5(GAA):c.953T>C (p.Met318Thr)	rs121907936	0.00006
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn)	rs74315445	0.00006
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg)	rs397515912	0.00006
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg)	rs80358254	0.00006
NM_000277.3(PAH):c.355C>T (p.Pro119Ser)	rs398123292	0.00006
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His)	rs111033305	0.00006
NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser)	rs111033308	0.00006
NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser)	rs121918014	0.00006
NM_000486.6(AQP2):c.211G>A (p.Val71Met)	rs149659001	0.00006
NM_000497.4(CYP11B1):c.799+5G>C	rs193922542	0.00006
NM_001126108.2(SLC12A3):c.1145C>T (p.Thr382Met)	rs187885782	0.00006
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter)	rs72646846	0.00006
NM_001288705.3(CSF1R):c.2603T>G (p.Leu868Arg)	rs281860278	0.00006
NM_001360.3(DHCR7):c.92G>A (p.Arg31His)	rs370307688	0.00006
NM_002168.4(IDH2):c.419G>A (p.Arg140Gln)	rs121913502	0.00006
NM_002485.5(NBN):c.127C>T (p.Arg43Ter)	rs200287925	0.00006
NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro)	rs104894205	0.00006
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter)	rs121908680	0.00006
NM_004092.4(ECHS1):c.583G>A (p.Gly195Ser)	rs761989177	0.00006
NM_005373.3(MPL):c.304C>T (p.Arg102Cys)	rs763568293	0.00006
NM_006767.4(LZTR1):c.2062C>T (p.Arg688Cys)	rs587777178	0.00006
NM_007294.4(BRCA1):c.301+7G>A	rs80358113	0.00006
NM_014270.5(SLC7A9):c.671C>T (p.Ala224Val)	rs140873167	0.00006
NM_014855.3(AP5Z1):c.1132G>A (p.Gly378Arg)	rs777093701	0.00006
NM_015346.4(ZFYVE26):c.3139+1G>A	rs137907310	0.00006
NM_016111.4(TELO2):c.392G>A (p.Gly131Asp)	rs187225056	0.00006
NM_020320.5(RARS2):c.35A>G (p.Gln12Arg)	rs147391618	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_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)	rs200391019	0.00006
NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp)	rs180675584	0.00006
NM_152564.5(VPS13B):c.6727G>T (p.Glu2243Ter)	rs146960401	0.00006
NM_152906.7(TANGO2):c.94C>T (p.Arg32Ter)	rs199801224	0.00006
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp)	rs137853336	0.00006
NM_206933.4(USH2A):c.1036A>C (p.Asn346His)	rs369522997	0.00006
NM_000018.4(ACADVL):c.779C>T (p.Thr260Met)	rs113994168	0.00005
NM_000053.4(ATP7B):c.1285+5G>T	rs370579582	0.00005
NM_000064.4(C3):c.193A>C (p.Lys65Gln)	rs539992721	0.00005
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly)	rs200379491	0.00005
NM_000071.3(CBS):c.341C>T (p.Ala114Val)	rs121964964	0.00005
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter)	rs121917901	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_000288.4(PEX7):c.649G>A (p.Gly217Arg)	rs121909152	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_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn)	rs62642574	0.00005
NM_000350.3(ABCA4):c.6449G>A (p.Cys2150Tyr)	rs61751384	0.00005
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser)	rs137852314	0.00005
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)	rs111033256	0.00005
NM_000531.6(OTC):c.118C>T (p.Arg40Cys)	rs72554307	0.00005
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg)	rs121918593	0.00005
NM_001126108.2(SLC12A3):c.2938G>A (p.Gly980Arg)	rs34803727	0.00005
NM_001166114.2(PNPLA6):c.4003C>T (p.Pro1335Ser)	rs151264767	0.00005
NM_001360.3(DHCR7):c.1A>G (p.Met1Val)	rs104886033	0.00005
NM_001875.5(CPS1):c.2148T>A (p.Asn716Lys)	rs369061090	0.00005
NM_001930.4(DHPS):c.518A>G (p.Asn173Ser)	rs758100382	0.00005
NM_002582.4(PARN):c.1749_1750del (p.Glu585fs)	rs1194089098	0.00005
NM_016216.4(DBR1):c.233C>T (p.Thr78Met)	rs775757073	0.00005
NM_016239.4(MYO15A):c.6046+1G>A	rs201978571	0.00005
NM_016247.4(IMPG2):c.370T>C (p.Phe124Leu)	rs201893545	0.00005
NM_019032.6(ADAMTSL4):c.2236C>T (p.Arg746Cys)	rs751676813	0.00005
NM_020442.6(VARS2):c.1456G>T (p.Glu486Ter)	rs143821815	0.00005
NM_025074.7(FRAS1):c.4843+2T>C	rs370018000	0.00005
NM_144773.4(PROKR2):c.533G>C (p.Trp178Ser)	rs201835496	0.00005
NM_145868.2(ANXA11):c.112G>A (p.Gly38Arg)	rs142083484	0.00005
NM_152783.5(D2HGDH):c.1243G>A (p.Val415Met)	rs371794611	0.00005
NM_176869.3(PPA2):c.476C>T (p.Thr159Met)	rs752062224	0.00005
NM_183075.3(CYP2U1):c.1376C>T (p.Pro459Leu)	rs747965749	0.00005
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg)	rs569681869	0.00004
NM_000094.4(COL7A1):c.6448G>A (p.Gly2150Ser)	rs370428918	0.00004
NM_000097.7(CPOX):c.1138C>G (p.Gln380Glu)	rs201231166	0.00004
NM_000110.4(DPYD):c.257C>T (p.Pro86Leu)	rs568132506	0.00004
NM_000132.4(F8):c.4828G>T (p.Ala1610Ser)	rs782127226	0.00004
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer)	rs781088002	0.00004
NM_000169.3(GLA):c.644A>G (p.Asn215Ser)	rs28935197	0.00004
NM_000181.4(GUSB):c.1617C>T (p.Ser539=)	rs377519272	0.00004
NM_000181.4(GUSB):c.1856C>T (p.Ala619Val)	rs121918172	0.00004
NM_000214.3(JAG1):c.1527C>A (p.Phe509Leu)	rs770377023	0.00004
NM_000238.4(KCNH2):c.2717C>T (p.Ser906Leu)	rs199473435	0.00004
NM_000249.4(MLH1):c.1474G>A (p.Ala492Thr)	rs63751145	0.00004
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln)	rs200411226	0.00004
NM_000256.3(MYBPC3):c.3373G>A (p.Val1125Met)	rs121909378	0.00004
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys)	rs397516074	0.00004
NM_000257.4(MYH7):c.1988G>A (p.Arg663His)	rs371898076	0.00004
NM_000312.4(PROC):c.970G>A (p.Gly324Ser)	rs571278160	0.00004
NM_000342.4(SLC4A1):c.2102G>A (p.Gly701Asp)	rs121912748	0.00004
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp)	rs368861241	0.00004
NM_000391.4(TPP1):c.225A>G (p.Gln75=)	rs368709098	0.00004
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg)	rs121908362	0.00004
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu)	rs397508442	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_001126108.2(SLC12A3):c.248G>A (p.Arg83Gln)	rs768527231	0.00004
NM_001136035.4(TRMT1):c.310+5G>C	rs374273151	0.00004
NM_001204.7(BMPR2):c.908G>A (p.Arg303His)	rs200948870	0.00004
NM_001256317.3(TMPRSS3):c.346G>A (p.Val116Met)	rs200090033	0.00004
NM_001276270.2(MBD4):c.1670T>A (p.Leu557Ter)	rs200758755	0.00004
NM_001277115.2(DNAH11):c.12933+1G>A	rs371022970	0.00004
NM_001283009.2(RTEL1):c.2957G>A (p.Arg986Gln)	rs146221660	0.00004
NM_001414.4(EIF2B1):c.824A>G (p.Tyr275Cys)	rs758746181	0.00004
NM_002016.2(FLG):c.10969C>T (p.Arg3657Ter)	rs749083759	0.00004
NM_003052.5(SLC34A1):c.73C>T (p.Arg25Ter)	rs200893951	0.00004
NM_003239.5(TGFB3):c.626G>A (p.Arg209His)	rs779897294	0.00004
NM_003480.4(MFAP5):c.472C>T (p.Arg158Ter)	rs727502791	0.00004
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys)	rs767178508	0.00004
NM_004211.5(SLC6A5):c.1472A>G (p.Tyr491Cys)	rs121908494	0.00004
NM_004211.5(SLC6A5):c.1651C>T (p.Pro551Ser)	rs781330809	0.00004
NM_004211.5(SLC6A5):c.2114A>G (p.Tyr705Cys)	rs143918578	0.00004
NM_005560.6(LAMA5):c.8674C>T (p.Arg2892Cys)	rs375523467	0.00004
NM_005787.6(ALG3):c.512G>A (p.Arg171Gln)	rs119103236	0.00004
NM_005908.4(MANBA):c.1753C>T (p.Arg585Ter)	rs759449765	0.00004
NM_006363.6(SEC23B):c.53G>A (p.Arg18His)	rs905074313	0.00004
NM_006371.5(CRTAP):c.634C>T (p.Arg212Ter)	rs137853944	0.00004
NM_016138.5(COQ7):c.161G>A (p.Arg54Gln)	rs770654508	0.00004
NM_016138.5(COQ7):c.319C>T (p.Arg107Trp)	rs769570290	0.00004
NM_017547.4(FOXRED1):c.1261G>A (p.Val421Met)	rs199542988	0.00004
NM_018062.4(FANCL):c.472-1G>C	rs768814501	0.00004
NM_018082.6(POLR3B):c.2303G>A (p.Arg768His)	rs267608687	0.00004
NM_018122.5(DARS2):c.536G>A (p.Arg179His)	rs121918210	0.00004
NM_019109.5(ALG1):c.1025A>C (p.Gln342Pro)	rs267606651	0.00004
NM_025132.4(WDR19):c.817A>G (p.Asn273Asp)	rs375644378	0.00004
NM_025243.4(SLC19A3):c.337T>C (p.Tyr113His)	rs145999922	0.00004
NM_031307.4(PUS3):c.212A>G (p.Tyr71Cys)	rs761792490	0.00004
NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter)	rs121909762	0.00004
NM_033629.6(TREX1):c.290G>A (p.Arg97His)	rs200773268	0.00004
NM_054012.4(ASS1):c.787G>A (p.Val263Met)	rs192838388	0.00004
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu)	rs199531851	0.00004
NM_153766.3(KCNJ1):c.601C>T (p.Leu201Phe)	rs200320892	0.00004
NM_170707.4(LMNA):c.1580G>A (p.Arg527His)	rs57520892	0.00004
NM_213720.3(CHCHD10):c.196G>A (p.Gly66Ser)	rs374211312	0.00004
NM_000016.6(ACADM):c.558T>A (p.Asn186Lys)	rs754359356	0.00003
NM_000018.4(ACADVL):c.1226C>T (p.Thr409Met)	rs113994169	0.00003
NM_000088.4(COL1A1):c.1532G>A (p.Arg511His)	rs780422688	0.00003
NM_000092.5(COL4A4):c.2392G>A (p.Gly798Ser)	rs760803228	0.00003
NM_000113.3(TOR1A):c.862C>T (p.Arg288Ter)	rs760768475	0.00003
NM_000128.4(F11):c.1107C>A (p.Tyr369Ter)	rs773905328	0.00003
NM_000128.4(F11):c.1778C>T (p.Thr593Met)	rs145906668	0.00003
NM_000153.4(GALC):c.857G>A (p.Gly286Asp)	rs199847983	0.00003
NM_000155.4(GALT):c.292G>A (p.Asp98Asn)	rs111033670	0.00003
NM_000159.4(GCDH):c.769C>T (p.Arg257Trp)	rs766518430	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_000218.3(KCNQ1):c.1748G>A (p.Arg583His)	rs199473482	0.00003
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln)	rs397515907	0.00003
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)	rs3218716	0.00003
NM_000260.4(MYO7A):c.397C>A (p.His133Asn)	rs111033403	0.00003
NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu)	rs780296175	0.00003
NM_000335.5(SCN5A):c.3914G>A (p.Arg1305His)	rs730880207	0.00003
NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val)	rs199473220	0.00003
NM_000338.3(SLC12A1):c.1432G>A (p.Gly478Arg)	rs758166864	0.00003
NM_000350.3(ABCA4):c.6721C>G (p.Leu2241Val)	rs61748521	0.00003
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr)	rs5030869	0.00003
NM_000414.4(HSD17B4):c.743G>A (p.Arg248His)	rs748057401	0.00003
NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met)	rs121908363	0.00003
NM_000527.5(LDLR):c.1061A>T (p.Asp354Val)	rs755449669	0.00003
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)	rs137929307	0.00003
NM_000527.5(LDLR):c.292G>A (p.Gly98Ser)	rs750474121	0.00003
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys)	rs267608161	0.00003
NM_001012339.3(DNAJC21):c.983+1G>A	rs368148362	0.00003
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp)	rs104894718	0.00003
NM_001041.4(SI):c.2401G>T (p.Glu801Ter)	rs200972419	0.00003
NM_001069.3(TUBB2A):c.743C>T (p.Ala248Val)	rs2808001	0.00003
NM_001126108.2(SLC12A3):c.938C>T (p.Ala313Val)	rs140551719	0.00003
NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro)	rs28931569	0.00003
NM_001164508.2(NEB):c.20260G>A (p.Glu6754Lys)	rs776334631	0.00003
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp)	rs398123061	0.00003
NM_001360.3(DHCR7):c.1342G>A (p.Glu448Lys)	rs80338864	0.00003
NM_001360.3(DHCR7):c.461C>G (p.Thr154Arg)	rs143312232	0.00003
NM_001366110.1(PAX4):c.514C>T (p.Arg172Trp)	rs121917718	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_001384732.1(CPLANE1):c.3380C>T (p.Ser1127Leu)	rs375009168	0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)	rs376607329	0.00003
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu)	rs370228071	0.00003
NM_003560.4(PLA2G6):c.2370_2371del (p.Tyr790_Glu791delinsTer)	rs587784353	0.00003
NM_004004.6(GJB2):c.550C>T (p.Arg184Trp)	rs998045226	0.00003
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro)	rs80338950	0.00003
NM_004092.4(ECHS1):c.488C>T (p.Pro163Leu)	rs371582393	0.00003
NM_005085.4(NUP214):c.112C>T (p.Arg38Cys)	rs143595616	0.00003
NM_005726.6(TSFM):c.934C>T (p.Arg312Trp)	rs121909485	0.00003
NM_006005.3(WFS1):c.2654C>T (p.Pro885Leu)	rs372855769	0.00003
NM_006759.4(UGP2):c.34A>G (p.Met12Val)	rs768305634	0.00003
NM_006767.4(LZTR1):c.842C>T (p.Pro281Leu)	rs1390048261	0.00003
NM_006901.4(MYO9A):c.608A>G (p.Tyr203Cys)	rs374155761	0.00003
NM_012144.4(DNAI1):c.1222G>A (p.Val408Met)	rs794727103	0.00003
NM_016580.4(PCDH12):c.922C>T (p.Arg308Ter)	rs370283860	0.00003
NM_017780.4(CHD7):c.5824C>T (p.Arg1942Trp)	rs200441929	0.00003
NM_017807.4(OSGEP):c.740G>A (p.Arg247Gln)	rs773173317	0.00003
NM_018122.5(DARS2):c.172C>G (p.Arg58Gly)	rs375700548	0.00003
NM_018359.5(UFSP2):c.344T>A (p.Val115Glu)	rs142500730	0.00003
NM_020461.4(TUBGCP6):c.1615_1616del (p.Trp539fs)	rs770253928	0.00003
NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter)	rs147030232	0.00003
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala)	rs199568593	0.00003
NM_138694.4(PKHD1):c.353del (p.Ser118fs)	rs398124483	0.00003
NM_138694.4(PKHD1):c.9107T>G (p.Val3036Gly)	rs893497345	0.00003
NM_152416.4(NDUFAF6):c.532G>C (p.Ala178Pro)	rs201088736	0.00003
NM_152416.4(NDUFAF6):c.967del (p.Tyr323fs)	rs779349059	0.00003
NM_172201.2(KCNE2):c.347C>T (p.Ala116Val)	rs199473367	0.00003
NM_182916.3(TRNT1):c.1246A>G (p.Lys416Glu)	rs199931785	0.00003
NM_183075.3(CYP2U1):c.1462C>T (p.Arg488Trp)	rs141431913	0.00003
NM_198239.2(CCN6):c.156C>A (p.Cys52Ter)	rs121908901	0.00003
NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser)	rs767648174	0.00003
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys)	rs750396156	0.00003
NM_206933.4(USH2A):c.7595-3C>G	rs201657446	0.00003
NM_000018.4(ACADVL):c.1366C>T (p.Arg456Cys)	rs794727111	0.00002
NM_000049.4(ASPA):c.820G>A (p.Gly274Arg)	rs761064915	0.00002
NM_000051.4(ATM):c.1355del (p.Thr452fs)	rs587781776	0.00002
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys)	rs587782292	0.00002
NM_000052.7(ATP7A):c.4356G>C (p.Leu1452Phe)	rs782364202	0.00002
NM_000053.4(ATP7B):c.236G>A (p.Arg79Lys)	rs375470066	0.00002
NM_000091.5(COL4A3):c.1184G>A (p.Gly395Glu)	rs1131691738	0.00002
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg)	rs772708743	0.00002
NM_000092.5(COL4A4):c.1223G>A (p.Gly408Glu)	rs1026613471	0.00002
NM_000092.5(COL4A4):c.2752G>A (p.Gly918Arg)	rs372606845	0.00002
NM_000092.5(COL4A4):c.2878G>A (p.Gly960Arg)	rs769783985	0.00002
NM_000132.4(F8):c.2149C>T (p.Arg717Trp)	rs137852435	0.00002
NM_000135.4(FANCA):c.2778+1G>A	rs140180549	0.00002
NM_000169.3(GLA):c.335G>A (p.Arg112His)	rs372966991	0.00002
NM_000199.5(SGSH):c.364G>A (p.Gly122Arg)	rs761607612	0.00002
NM_000218.3(KCNQ1):c.569G>A (p.Arg190Gln)	rs120074178	0.00002
NM_000238.4(KCNH2):c.1128G>A (p.Gln376=)	rs770047651	0.00002
NM_000256.3(MYBPC3):c.1224-52G>A	rs786204336	0.00002
NM_000256.3(MYBPC3):c.1458-6G>A	rs375347534	0.00002
NM_000256.3(MYBPC3):c.3190+5G>A	rs587782958	0.00002
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu)	rs397516068	0.00002
NM_000257.4(MYH7):c.1727A>G (p.His576Arg)	rs727504238	0.00002
NM_000257.4(MYH7):c.2348G>A (p.Arg783His)	rs397516142	0.00002
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln)	rs193922390	0.00002
NM_000257.4(MYH7):c.925G>A (p.Asp309Asn)	rs730880923	0.00002
NM_000257.4(MYH7):c.958G>A (p.Val320Met)	rs376897125	0.00002
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter)	rs376764423	0.00002
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp)	rs104894526	0.00002
NM_000313.4(PROS1):c.233C>T (p.Thr78Met)	rs6122	0.00002
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys)	rs137854601	0.00002
NM_000348.4(SRD5A2):c.607G>A (p.Gly203Ser)	rs9332961	0.00002
NM_000373.4(UMPS):c.385G>T (p.Gly129Ter)	rs747405574	0.00002
NM_000479.5(AMH):c.1165G>T (p.Glu389Ter)	rs1415701260	0.00002
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)	rs373371572	0.00002
NM_000527.5(LDLR):c.268G>A (p.Asp90Asn)	rs749038326	0.00002
NM_001009944.3(PKD1):c.6571C>T (p.Arg2191Cys)	rs375006983	0.00002
NM_001010874.5(TECRL):c.587G>A (p.Arg196Gln)	rs773204795	0.00002
NM_001034116.2(EIF2B4):c.626G>A (p.Arg209Gln)	rs113994028	0.00002
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu)	rs137854550	0.00002
NM_001110556.2(FLNA):c.6728C>G (p.Ala2243Gly)	rs953454766	0.00002
NM_001111125.3(IQSEC2):c.2698G>A (p.Val900Ile)	rs1461166570	0.00002
NM_001111125.3(IQSEC2):c.2777G>A (p.Arg926Gln)	rs1556861372	0.00002
NM_001127178.3(PIGG):c.641A>G (p.His214Arg)	rs782157451	0.00002
NM_001128126.3(AP4S1):c.295-3C>A	rs185246578	0.00002
NM_001349.4(DARS1):c.1480C>G (p.Arg494Gly)	rs147077598	0.00002
NM_001384732.1(CPLANE1):c.1465G>T (p.Val489Phe)	rs372187548	0.00002
NM_001739.2(CA5A):c.721G>A (p.Glu241Lys)	rs563971993	0.00002
NM_001927.4(DES):c.1048C>T (p.Arg350Trp)	rs62636492	0.00002
NM_001999.4(FBN2):c.7985A>G (p.Asn2662Ser)	rs765867245	0.00002
NM_001999.4(FBN2):c.8437G>A (p.Gly2813Ser)	rs199808954	0.00002
NM_002113.3(CFHR1):c.869T>C (p.Leu290Ser)	rs200832275	0.00002
NM_002180.3(IGHMBP2):c.1273C>T (p.Arg425Cys)	rs1303837541	0.00002
NM_002294.3(LAMP2):c.778C>T (p.His260Tyr)	rs778577575	0.00002
NM_002296.4(LBR):c.1747C>T (p.Arg583Ter)	rs1057516045	0.00002
NM_003036.4(SKI):c.1735G>A (p.Ala579Thr)	rs370558210	0.00002
NM_003238.6(TGFB2):c.933-1G>A	rs866504799	0.00002
NM_004004.6(GJB2):c.585G>C (p.Met195Ile)	rs570552952	0.00002
NM_004004.6(GJB2):c.596C>T (p.Ser199Phe)	rs771748289	0.00002
NM_004006.3(DMD):c.10889G>A (p.Arg3630Gln)	rs1057522606	0.00002
NM_004408.4(DNM1):c.2156C>T (p.Ala719Val)	rs1432815882	0.00002
NM_005247.4(FGF3):c.310C>T (p.Arg104Ter)	rs121917704	0.00002
NM_005334.3(HCFC1):c.4217C>T (p.Ala1406Val)	rs782239008	0.00002
NM_006767.4(LZTR1):c.353G>A (p.Arg118His)	rs769001939	0.00002
NM_012203.2(GRHPR):c.608_609del (p.Pro203fs)	rs180177316	0.00002
NM_014049.5(ACAD9):c.796C>T (p.Arg266Trp)	rs753711253	0.00002
NM_014159.7(SETD2):c.746C>T (p.Ser249Phe)	rs1162661952	0.00002
NM_015214.3(DDHD2):c.724C>T (p.Arg242Cys)	rs1380005347	0.00002
NM_015978.3(TNNI3K):c.2302G>A (p.Glu768Lys)	rs202238194	0.00002
NM_018255.4(ELP2):c.1385G>A (p.Arg462Gln)	rs371310428	0.00002
NM_018418.5(SPATA7):c.288T>A (p.Cys96Ter)	rs767745816	0.00002
NM_019023.5(PRMT7):c.95G>C (p.Arg32Thr)	rs149170494	0.00002
NM_020320.5(RARS2):c.25A>G (p.Ile9Val)	rs748335175	0.00002
NM_020442.6(VARS2):c.1834_1835del (p.Leu612fs)	rs777028011	0.00002
NM_021074.5(NDUFV2):c.669_670insG (p.Ser224fs)	rs772188600	0.00002
NM_024417.5(FDXR):c.1156C>T (p.Arg386Trp)	rs760345680	0.00002
NM_031407.7(HUWE1):c.12559C>T (p.Arg4187Cys)	rs121918527	0.00002
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln)	rs104886308	0.00002
NM_052844.4(DYNC2I2):c.544C>T (p.Arg182Trp)	rs555811074	0.00002
NM_054012.4(ASS1):c.370G>A (p.Asp124Asn)	rs936192871	0.00002
NM_080632.3(UPF3B):c.667A>G (p.Ile223Val)	rs147945173	0.00002
NM_138694.4(PKHD1):c.390+1G>T	rs752327566	0.00002
NM_138694.4(PKHD1):c.4199C>T (p.Ser1400Leu)	rs191201723	0.00002
NM_138694.4(PKHD1):c.7964A>C (p.His2655Pro)	rs748196998	0.00002
NM_138694.4(PKHD1):c.8206T>G (p.Trp2736Gly)	rs764880309	0.00002
NM_138694.4(PKHD1):c.8425G>A (p.Gly2809Arg)	rs398124497	0.00002
NM_148960.3(CLDN19):c.535G>A (p.Gly179Ser)	rs145591298	0.00002
NM_152384.3(BBS5):c.817-1G>T	rs1466289570	0.00002
NM_152416.4(NDUFAF6):c.420+784C>T	rs749738738	0.00002
NM_170707.4(LMNA):c.1279C>T (p.Arg427Cys)	rs373584456	0.00002
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys)	rs59885338	0.00002
NM_194248.3(OTOF):c.4747C>T (p.Arg1583Cys)	rs781688103	0.00002
NM_207122.2(EXT2):c.1393C>T (p.Arg465Ter)	rs772690312	0.00002
NC_000011.10:g.47335082_47335083del	rs397515990	0.00001
NM_000016.6(ACADM):c.599+1G>A	rs866388216	0.00001
NM_000018.4(ACADVL):c.1269G>A (p.Ser423=)	rs765356942	0.00001
NM_000018.4(ACADVL):c.722A>G (p.Tyr241Cys)	rs575789958	0.00001
NM_000030.3(AGXT):c.332G>A (p.Arg111Gln)	rs180177203	0.00001
NM_000051.4(ATM):c.2467-2A>C	rs1555082050	0.00001
NM_000051.4(ATM):c.5633C>T (p.Ser1878Leu)	rs758908522	0.00001
NM_000051.4(ATM):c.875C>T (p.Pro292Leu)	rs747727055	0.00001
NM_000053.4(ATP7B):c.2267C>T (p.Ala756Val)	rs769927137	0.00001
NM_000053.4(ATP7B):c.3305T>C (p.Ile1102Thr)	rs560952220	0.00001
NM_000069.3(CACNA1S):c.3795G>T (p.Gln1265His)	rs201627041	0.00001
NM_000083.3(CLCN1):c.895G>C (p.Val299Leu)	rs202179484	0.00001
NM_000091.5(COL4A3):c.1855G>A (p.Gly619Arg)	rs773515249	0.00001
NM_000091.5(COL4A3):c.1A>C (p.Met1Leu)	rs1396602090	0.00001
NM_000091.5(COL4A3):c.3472G>C (p.Gly1158Arg)	rs914878176	0.00001
NM_000091.5(COL4A3):c.443G>T (p.Gly148Val)	rs775373641	0.00001
NM_000091.5(COL4A3):c.4793T>G (p.Leu1598Arg)	rs752452590	0.00001
NM_000091.5(COL4A3):c.765G>A (p.Thr255=)	rs869025328	0.00001
NM_000092.5(COL4A4):c.2312G>A (p.Gly771Glu)	rs781660254	0.00001
NM_000093.5(COL5A1):c.1561A>G (p.Met521Val)	rs535161301	0.00001
NM_000093.5(COL5A1):c.3865G>A (p.Glu1289Lys)	rs1462929012	0.00001
NM_000102.4(CYP17A1):c.1112T>C (p.Ile371Thr)	rs766043032	0.00001
NM_000110.4(DPYD):c.61C>T (p.Arg21Ter)	rs72549310	0.00001
NM_000126.4(ETFA):c.667C>T (p.Arg223Ter)	rs769976586	0.00001
NM_000128.4(F11):c.1432G>A (p.Gly478Arg)	rs542967227	0.00001
NM_000130.5(F5):c.436C>T (p.Arg146Ter)	rs767477438	0.00001
NM_000132.4(F8):c.1835G>A (p.Arg612His)	rs782473762	0.00001
NM_000132.4(F8):c.5302C>T (p.Arg1768Cys)	rs1046670041	0.00001
NM_000132.4(F8):c.6304G>A (p.Gly2102Ser)	rs200433372	0.00001
NM_000136.3(FANCC):c.1533+1G>C	rs753885687	0.00001
NM_000138.5(FBN1):c.3463G>A (p.Asp1155Asn)	rs794728204	0.00001
NM_000138.5(FBN1):c.4460-8G>A	rs193922204	0.00001
NM_000138.5(FBN1):c.5512G>A (p.Gly1838Ser)	rs397515823	0.00001
NM_000138.5(FBN1):c.5788+5G>A	rs193922219	0.00001
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)	rs727503054	0.00001
NM_000143.4(FH):c.923C>G (p.Ala308Gly)	rs1057524385	0.00001
NM_000152.5(GAA):c.1537G>A (p.Asp513Asn)	rs748047271	0.00001
NM_000153.4(GALC):c.1630G>A (p.Asp544Asn)	rs387906952	0.00001
NM_000155.4(GALT):c.443G>A (p.Arg148Gln)	rs111033694	0.00001
NM_000158.4(GBE1):c.721A>G (p.Met241Val)	rs747155575	0.00001
NM_000159.4(GCDH):c.1199dup (p.Ile401fs)	rs1970722328	0.00001
NM_000159.4(GCDH):c.383G>A (p.Arg128Gln)	rs755586631	0.00001
NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter)	rs770225915	0.00001
NM_000195.5(HPS1):c.988-1G>T	rs764927038	0.00001
NM_000199.5(SGSH):c.97G>A (p.Gly33Arg)	rs398123246	0.00001
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln)	rs199472815	0.00001
NM_000218.3(KCNQ1):c.477+5G>A	rs397508111	0.00001
NM_000218.3(KCNQ1):c.502G>A (p.Gly168Arg)	rs179489	0.00001
NM_000218.3(KCNQ1):c.643G>A (p.Val215Met)	rs17215479	0.00001
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter)	rs397516037	0.00001
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys)	rs121913625	0.00001
NM_000257.4(MYH7):c.1447G>A (p.Glu483Lys)	rs121913651	0.00001
NM_000257.4(MYH7):c.1750G>A (p.Gly584Ser)	rs121913626	0.00001
NM_000257.4(MYH7):c.2609G>A (p.Arg870His)	rs36211715	0.00001
NM_000257.4(MYH7):c.3235C>T (p.Arg1079Trp)	rs192722540	0.00001
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln)	rs397516209	0.00001
NM_000263.4(NAGLU):c.1004A>G (p.Tyr335Cys)	rs768918822	0.00001
NM_000271.5(NPC1):c.1298C>T (p.Pro433Leu)	rs1064793791	0.00001
NM_000271.5(NPC1):c.2848G>A (p.Val950Met)	rs120074135	0.00001
NM_000271.5(NPC1):c.2932C>T (p.Arg978Cys)	rs28942108	0.00001
NM_000271.5(NPC1):c.3107C>T (p.Thr1036Met)	rs28942104	0.00001
NM_000271.5(NPC1):c.721C>T (p.Gln241Ter)	rs1064795718	0.00001
NM_000274.4(OAT):c.722C>T (p.Pro241Leu)	rs121965051	0.00001
NM_000275.3(OCA2):c.1045-15T>G	rs779461179	0.00001
NM_000275.3(OCA2):c.1580T>G (p.Leu527Arg)	rs779850564	0.00001
NM_000277.3(PAH):c.1033G>T (p.Ala345Ser)	rs62516062	0.00001
NM_000287.4(PEX6):c.1801C>T (p.Arg601Trp)	rs61753225	0.00001
NM_000291.4(PGK1):c.758T>C (p.Ile253Thr)	rs137852534	0.00001
NM_000297.4(PKD2):c.1081C>T (p.Arg361Ter)	rs1578130676	0.00001
NM_000297.4(PKD2):c.1319+1G>A	rs1131692280	0.00001
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp)	rs1553925453	0.00001
NM_000303.3(PMM2):c.623G>C (p.Gly208Ala)	rs398123309	0.00001
NM_000308.4(CTSA):c.946C>T (p.Gln316Ter)	rs200565348	0.00001
NM_000310.4(PPT1):c.325T>G (p.Tyr109Asp)	rs386833642	0.00001
NM_000312.4(PROC):c.631C>T (p.Arg211Trp)	rs121918143	0.00001
NM_000330.4(RS1):c.304C>T (p.Arg102Trp)	rs61752067	0.00001
NM_000335.5(SCN5A):c.3913C>T (p.Arg1305Cys)	rs1403211358	0.00001
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp)	rs137854602	0.00001
NM_000335.5(SCN5A):c.674G>A (p.Arg225Gln)	rs199473071	0.00001
NM_000350.3(ABCA4):c.4463G>T (p.Cys1488Phe)	rs61750147	0.00001
NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg)	rs72559715	0.00001
NM_000352.6(ABCC8):c.4478G>A (p.Arg1493Gln)	rs746480424	0.00001
NM_000359.3(TGM1):c.790C>T (p.Arg264Trp)	rs201868387	0.00001
NM_000360.4(TH):c.1103C>T (p.Thr368Met)	rs1057520384	0.00001
NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln)	rs397516349	0.00001
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln)	rs397516354	0.00001
NM_000363.5(TNNI3):c.497C>T (p.Ser166Phe)	rs727504242	0.00001
NM_000363.5(TNNI3):c.5C>T (p.Ala2Val)	rs397516359	0.00001
NM_000368.5(TSC1):c.3130G>A (p.Glu1044Lys)	rs796053462	0.00001
NM_000441.2(SLC26A4):c.2048T>C (p.Phe683Ser)	rs1060499808	0.00001
NM_000454.5(SOD1):c.341T>C (p.Ile114Thr)	rs121912441	0.00001
NM_000478.6(ALPL):c.980T>G (p.Phe327Cys)	rs779832611	0.00001
NM_000478.6(ALPL):c.98C>T (p.Ala33Val)	rs121918005	0.00001
NM_000481.4(AMT):c.14dup (p.Ser6fs)	rs773988915	0.00001
NM_000487.6(ARSA):c.1115G>A (p.Arg372Gln)	rs74315477	0.00001
NM_000488.4(SERPINC1):c.449A>C (p.Gln150Pro)	rs765445413	0.00001
NM_000492.4(CFTR):c.1766+5G>T	rs121908796	0.00001
NM_000520.6(HEXA):c.1444G>A (p.Glu482Lys)	rs121907952	0.00001
NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys)	rs28942071	0.00001
NM_000520.6(HEXA):c.233G>A (p.Trp78Ter)	rs769035623	0.00001
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp)	rs121907972	0.00001
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)	rs28942079	0.00001
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter)	rs267607213	0.00001
NM_000527.5(LDLR):c.190+4A>T	rs769446356	0.00001
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)	rs121908031	0.00001
NM_000527.5(LDLR):c.223T>A (p.Cys75Ser)	rs879254439	0.00001
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys)	rs144172724	0.00001
NM_000527.5(LDLR):c.517T>C (p.Cys173Arg)	rs879254558	0.00001
NM_000528.4(MAN2B1):c.685C>T (p.Arg229Trp)	rs763257568	0.00001
NM_000539.3(RHO):c.936+1G>T	rs776014770	0.00001
NM_000540.3(RYR1):c.14210G>A (p.Arg4737Gln)	rs193922868	0.00001
NM_000543.5(SMPD1):c.56del (p.Gln19fs)	rs1554933746	0.00001
NM_000548.5(TSC2):c.2252G>A (p.Arg751Gln)	rs749593050	0.00001
NM_000548.5(TSC2):c.2350A>G (p.Lys784Glu)	rs751172150	0.00001
NM_000548.5(TSC2):c.5011G>A (p.Val1671Met)	rs775395648	0.00001
NM_000642.3(AGL):c.2309-1G>A	rs786204481	0.00001
NM_000642.3(AGL):c.3014del (p.Cys1005fs)	rs754653701	0.00001
NM_001005242.3(PKP2):c.1162C>T (p.Arg388Trp)	rs766209297	0.00001
NM_001005273.3(CHD3):c.5007_5008del (p.Asp1671fs)	rs967826828	0.00001
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser)	rs199476100	0.00001
NM_001009944.3(PKD1):c.6643C>T (p.Arg2215Trp)	rs752793757	0.00001
NM_001009944.3(PKD1):c.7271C>T (p.Thr2424Met)	rs1367567191	0.00001
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys)	rs1057518897	0.00001
NM_001009944.3(PKD1):c.9202-16G>A	rs1389523126	0.00001
NM_001009944.3(PKD1):c.9412G>A (p.Val3138Met)	rs1358566538	0.00001
NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu)	rs730881151	0.00001
NM_001018005.2(TPM1):c.842T>C (p.Met281Thr)	rs199476321	0.00001
NM_001018113.3(FANCB):c.1216C>T (p.Arg406Trp)	rs1364046604	0.00001
NM_001031710.3(KLHL7):c.1258C>T (p.Arg420Cys)	rs780705654	0.00001
NM_001035.3(RYR2):c.6430C>T (p.Arg2144Cys)	rs770847446	0.00001
NM_001035.3(RYR2):c.848+1G>A	rs772984053	0.00001
NM_001039141.3(TRIOBP):c.3202C>T (p.Arg1068Ter)	rs118204030	0.00001
NM_001042432.2(CLN3):c.949C>T (p.Gln317Ter)	rs796052335	0.00001
NM_001042492.3(NF1):c.3826C>G (p.Arg1276Gly)	rs199474742	0.00001
NM_001042492.3(NF1):c.3989A>C (p.Glu1330Ala)	rs1256727206	0.00001
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter)	rs760703505	0.00001
NM_001079537.2(TRAPPC6B):c.91C>T (p.Arg31Ter)	rs1171802070	0.00001
NM_001081.4(CUBN):c.6894_6901dup (p.Leu2301Ter)	rs1399856074	0.00001
NM_001082971.2(DDC):c.1073G>A (p.Arg358His)	rs771317809	0.00001
NM_001082971.2(DDC):c.1339C>T (p.Arg447Cys)	rs775312348	0.00001
NM_001083614.2(EARS2):c.320G>A (p.Arg107His)	rs1021330566	0.00001
NM_001110792.2(MECP2):c.55G>A (p.Glu19Lys)	rs782789719	0.00001
NM_001114753.3(ENG):c.1309C>T (p.Arg437Trp)	rs1434169817	0.00001
NM_001126108.2(SLC12A3):c.1456G>A (p.Asp486Asn)	rs753523115	0.00001
NM_001126108.2(SLC12A3):c.1926-1G>T	rs755560627	0.00001
NM_001126108.2(SLC12A3):c.2851_2852insAGGGGTGCACCCTC (p.Val951fs)	rs754576009	0.00001
NM_001126108.2(SLC12A3):c.533C>T (p.Ser178Leu)	rs772589653	0.00001
NM_001134363.3(RBM20):c.2063G>A (p.Arg688Gln)	rs776778214	0.00001
NM_001136193.2(FASTKD2):c.1072C>T (p.Arg358Ter)	rs994917847	0.00001
NM_001143992.2(WRAP53):c.1303G>A (p.Gly435Arg)	rs281865550	0.00001
NM_001145860.2(POP1):c.1748G>A (p.Gly583Glu)	rs374828868	0.00001
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=)	rs201553266	0.00001
NM_001182.5(ALDH7A1):c.1061A>G (p.Tyr354Cys)	rs1471249688	0.00001
NM_001195263.2(PDZD7):c.490C>T (p.Arg164Trp)	rs200664140	0.00001
NM_001198800.3(ASCC1):c.583C>T (p.Gln195Ter)	rs769501930	0.00001
NM_001232.4(CASQ2):c.939+1G>T	rs905985075	0.00001
NM_001253852.3(AP4B1):c.1216C>T (p.Arg406Ter)	rs776976178	0.00001
NM_001267550.2(TTN):c.32471-1G>A	rs371725574	0.00001
NM_001267550.2(TTN):c.83416C>T (p.Arg27806Ter)	rs886055237	0.00001
NM_001276345.2(TNNT2):c.305G>A (p.Arg102Gln)	rs121964856	0.00001
NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys)	rs397516463	0.00001
NM_001276345.2(TNNT2):c.601-1G>A	rs483352835	0.00001
NM_001281740.3(FHOD3):c.1583A>G (p.Tyr528Cys)	rs2036159242	0.00001
NM_001303256.3(MORC2):c.956G>A (p.Arg319His)	rs1163530787	0.00001
NM_001349.4(DARS1):c.1277T>C (p.Leu426Ser)	rs377510027	0.00001
NM_001352514.2(HLCS):c.1658_1659del (p.His553fs)	rs751956557	0.00001
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp)	rs119103229	0.00001
NM_001360016.2(G6PD):c.407G>A (p.Arg136His)	rs782205676	0.00001
NM_001365536.1(SCN9A):c.5351del (p.Glu1784fs)	rs1553473041	0.00001
NM_001371596.2(MFSD8):c.1235C>T (p.Pro412Leu)	rs267607235	0.00001
NM_001377295.2(GNAT2):c.937C>T (p.Arg313Ter)	rs748981899	0.00001
NM_001384732.1(CPLANE1):c.2624C>T (p.Ser875Phe)	rs794727154	0.00001
NM_001540.5(HSPB1):c.250G>C (p.Gly84Arg)	rs770272088	0.00001
NM_001845.6(COL4A1):c.1702G>T (p.Gly568Cys)	rs375477517	0.00001
NM_001875.5(CPS1):c.2611A>T (p.Thr871Ser)	rs750006303	0.00001
NM_001931.5(DLAT):c.1728C>A (p.Phe576Leu)	rs119103240	0.00001
NM_001943.5(DSG2):c.3039C>A (p.Tyr1013Ter)	rs539821357	0.00001
NM_001943.5(DSG2):c.991G>A (p.Glu331Lys)	rs121913012	0.00001
NM_001999.4(FBN2):c.5225G>A (p.Arg1742Gln)	rs774411234	0.00001
NM_001999.4(FBN2):c.5800+10G>A	rs546373462	0.00001
NM_002055.5(GFAP):c.1154C>G (p.Ser385Cys)	rs797044590	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.188A>G (p.Tyr63Cys)	rs121918459	0.00001
NM_003042.4(SLC6A1):c.593A>G (p.His198Arg)	rs1697439559	0.00001
NM_003221.4(TFAP2B):c.917C>T (p.Thr306Met)	rs1232197674	0.00001
NM_003227.4(TFR2):c.1330G>A (p.Ala444Thr)	rs80338884	0.00001
NM_003477.3(PDHX):c.1336C>T (p.Arg446Ter)	rs1135402725	0.00001
NM_003560.4(PLA2G6):c.1097T>A (p.Ile366Asn)	rs778225931	0.00001
NM_003846.3(PEX11B):c.595C>T (p.Arg199Ter)	rs781984979	0.00001
NM_004004.6(GJB2):c.19C>T (p.Gln7Ter)	rs111033451	0.00001
NM_004004.6(GJB2):c.583A>G (p.Met195Val)	rs532203068	0.00001
NM_004004.6(GJB2):c.598G>T (p.Gly200Ter)	rs786204597	0.00001
NM_004092.4(ECHS1):c.160C>T (p.Arg54Cys)	rs758723288	0.00001
NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp)	rs9809219	0.00001
NM_004281.4(BAG3):c.367C>T (p.Arg123Ter)	rs387906875	0.00001
NM_004415.4(DSP):c.3805C>T (p.Arg1269Ter)	rs767643821	0.00001
NM_004539.4(NARS1):c.1633C>T (p.Arg545Cys)	rs770931044	0.00001
NM_004621.6(TRPC6):c.643C>T (p.Arg215Trp)	rs768210838	0.00001
NM_004646.4(NPHS1):c.1048T>C (p.Ser350Pro)	rs386833863	0.00001
NM_004646.4(NPHS1):c.1555C>T (p.Pro519Ser)	rs386833884	0.00001
NM_004646.4(NPHS1):c.2131C>A (p.Arg711Ser)	rs764181464	0.00001
NM_004722.4(AP4M1):c.142del (p.Val48fs)	rs764326593	0.00001
NM_004975.4(KCNB1):c.986A>G (p.Asn329Ser)	rs1984257387	0.00001
NM_004984.4(KIF5A):c.967C>T (p.Arg323Trp)	rs1012819766	0.00001
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp)	rs121913529	0.00001
NM_005002.5(NDUFA9):c.1078C>T (p.Arg360Cys)	rs3210083	0.00001
NM_005006.7(NDUFS1):c.1298_1325del (p.Gly433fs)	rs750285313	0.00001
NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys)	rs193922680	0.00001
NM_005188.4(CBL):c.1111T>C (p.Tyr371His)	rs267606706	0.00001
NM_005188.4(CBL):c.1259G>A (p.Arg420Gln)	rs267606708	0.00001
NM_005422.4(TECTA):c.6061C>T (p.Arg2021Cys)	rs1455568421	0.00001
NM_005518.4(HMGCS2):c.1499G>A (p.Arg500His)	rs137852639	0.00001
NM_005677.4(COLQ):c.954+1G>A	rs757060689	0.00001
NM_005787.6(ALG3):c.286G>A (p.Gly96Arg)	rs367679074	0.00001
NM_005957.5(MTHFR):c.1013T>C (p.Met338Thr)	rs368321176	0.00001
NM_005957.5(MTHFR):c.584C>T (p.Ala195Val)	rs760161369	0.00001
NM_006005.3(WFS1):c.472G>A (p.Glu158Lys)	rs567563179	0.00001
NM_006019.4(TCIRG1):c.2066G>A (p.Trp689Ter)	rs1590817956	0.00001
NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met)	rs121434502	0.00001
NM_006397.3(RNASEH2A):c.69G>A (p.Val23=)	rs397515480	0.00001
NM_006623.4(PHGDH):c.1030C>T (p.Arg344Ter)	rs769256568	0.00001
NM_006623.4(PHGDH):c.707G>A (p.Arg236His)	rs776544484	0.00001
NM_006767.4(LZTR1):c.365C>T (p.Ser122Leu)	rs587777177	0.00001
NM_007055.4(POLR3A):c.3337-11T>C	rs1564613755	0.00001
NM_007103.4(NDUFV1):c.1156C>T (p.Arg386Cys)	rs150966634	0.00001
NM_007214.5(SEC63):c.292C>T (p.Arg98Ter)	rs768568123	0.00001
NM_007294.4(BRCA1):c.4986+6T>C	rs80358086	0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)	rs267607048	0.00001
NM_013254.4(TBK1):c.1201A>G (p.Lys401Glu)	rs756751089	0.00001
NM_014712.3(SETD1A):c.4582-2_4582-1del	rs755127868	0.00001
NM_015166.4(MLC1):c.240G>A (p.Met80Ile)	rs281875310	0.00001
NM_015506.3(MMACHC):c.544T>C (p.Cys182Arg)	rs955468279	0.00001
NM_015665.6(AAAS):c.464G>A (p.Arg155His)	rs758440592	0.00001
NM_015937.6(PIGT):c.1079G>T (p.Gly360Val)	rs1277383877	0.00001
NM_015965.7(NDUFA13):c.170G>A (p.Arg57His)	rs752513525	0.00001
NM_016239.4(MYO15A):c.4351G>A (p.Asp1451Asn)	rs767270134	0.00001
NM_016373.4(WWOX):c.49G>A (p.Glu17Lys)	rs780345312	0.00001
NM_016464.5(TMEM138):c.306_307dup (p.Arg103fs)	rs771224190	0.00001
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)	rs398123009	0.00001
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp)	rs104894078	0.00001
NM_019023.5(PRMT7):c.1159A>G (p.Arg387Gly)	rs762515973	0.00001
NM_020320.5(RARS2):c.1679G>A (p.Arg560His)	rs756502974	0.00001
NM_020458.4(TTC7A):c.1288-1G>T	rs568082272	0.00001
NM_020686.6(ABAT):c.1172T>C (p.Leu391Ser)	rs376708126	0.00001
NM_024120.5(NDUFAF5):c.686T>C (p.Leu229Pro)	rs118203929	0.00001
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn)	rs200688985	0.00001
NM_024685.4(BBS10):c.539G>A (p.Gly180Glu)	rs1555202697	0.00001
NM_024740.2(ALG9):c.1225del (p.Arg409fs)	rs1324062430	0.00001
NM_024757.5(EHMT1):c.2842C>T (p.Arg948Trp)	rs368702408	0.00001
NM_024817.3(THSD4):c.2341C>T (p.Arg781Trp)	rs767807136	0.00001
NM_025137.4(SPG11):c.2444G>A (p.Arg815Lys)	rs312262742	0.00001
NM_025243.4(SLC19A3):c.223G>A (p.Asp75Asn)	rs980641322	0.00001
NM_025243.4(SLC19A3):c.81_82dup (p.Met28fs)	rs775835429	0.00001
NM_031885.5(BBS2):c.1864C>T (p.Arg622Ter)	rs201196733	0.00001
NM_032043.3(BRIP1):c.2119C>T (p.Arg707Cys)	rs764803896	0.00001
NM_033380.3(COL4A5):c.3508G>A (p.Gly1170Ser)	rs104886237	0.00001
NM_053025.4(MYLK):c.3566-2A>G	rs1398461143	0.00001
NM_078470.6(COX15):c.211C>T (p.Arg71Ter)	rs751819645	0.00001
NM_080632.3(UPF3B):c.846+1G>A	rs373920032	0.00001
NM_130837.3(OPA1):c.2960G>A (p.Arg987His)	rs1160551128	0.00001
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter)	rs144193508	0.00001
NM_138694.4(PKHD1):c.2167C>T (p.Arg723Cys)	rs794727366	0.00001
NM_138694.4(PKHD1):c.2936C>T (p.Thr979Ile)	rs747895516	0.00001
NM_138694.4(PKHD1):c.4811C>T (p.Thr1604Met)	rs1370869109	0.00001
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met)	rs137852946	0.00001
NM_138694.4(PKHD1):c.5513A>G (p.Tyr1838Cys)	rs777999875	0.00001
NM_138694.4(PKHD1):c.5751+3A>G	rs1581726525	0.00001
NM_138694.4(PKHD1):c.7280T>C (p.Ile2427Thr)	rs398124492	0.00001
NM_138694.4(PKHD1):c.7350+653A>G	rs1240212722	0.00001
NM_138694.4(PKHD1):c.8824C>T (p.Arg2942Ter)	rs398124500	0.00001
NM_138694.4(PKHD1):c.9308G>A (p.Gly3103Asp)	rs753264751	0.00001
NM_138694.4(PKHD1):c.982C>T (p.Arg328Ter)	rs398124503	0.00001
NM_144997.7(FLCN):c.1579C>T (p.Arg527Ter)	rs879255683	0.00001
NM_145207.3(AFG2A):c.2406A>C (p.Arg802Ser)	rs1741466817	0.00001
NM_152393.4(KLHL40):c.931C>A (p.Arg311Ser)	rs763283033	0.00001
NM_152564.5(VPS13B):c.8397G>A (p.Trp2799Ter)	rs386834112	0.00001
NM_152906.7(TANGO2):c.256C>T (p.Arg86Ter)	rs1162037663	0.00001
NM_153033.5(KCTD7):c.631C>T (p.Arg211Ter)	rs750811871	0.00001
NM_153676.4(USH1C):c.1039C>T (p.Gln347Ter)	rs762551629	0.00001
NM_153704.6(TMEM67):c.2322+2dup	rs386834192	0.00001
NM_153766.3(KCNJ1):c.443G>A (p.Gly148Glu)	rs104894254	0.00001
NM_170707.4(LMNA):c.725C>T (p.Ala242Val)	rs397517906	0.00001
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys)	rs56816490	0.00001
NM_172351.3(CD46):c.820_821del (p.Ser274fs)	rs1191117776	0.00001
NM_176869.3(PPA2):c.250C>T (p.Arg84Ter)	rs781655422	0.00001
NM_198253.3(TERT):c.2851C>T (p.Arg951Trp)	rs370445231	0.00001
NM_198503.5(KCNT2):c.1621C>T (p.Arg541Ter)	rs528303127	0.00001
NM_203290.4(POLR1C):c.88C>T (p.Pro30Ser)	rs1057519455	0.00001
NM_206933.4(USH2A):c.12580T>C (p.Cys4194Arg)	rs769001387	0.00001
NM_206933.4(USH2A):c.5298+5G>A	rs1176314553	0.00001
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter)	rs397518041	0.00001
NM_206933.4(USH2A):c.99_100insT (p.Arg34fs)	rs141672841	0.00001
NC_000011.10:g.47332282_47332306del	rs36212066
NC_000011.10:g.47347065C>T	rs864622197
NC_000016.10:g.5071998A>G	rs794726944
NC_012920.1(MT-TL1):m.3243A>G	rs199474657
NM_000016.6(ACADM):c.468+7A>G
NM_000018.4(ACADVL):c.343del	rs387906249
NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln)	rs121909284
NM_000020.3(ACVRL1):c.590C>T (p.Thr197Ile)
NM_000020.3(ACVRL1):c.698C>T (p.Ser233Leu)	rs762773076
NM_000021.4(PSEN1):c.737C>A (p.Ala246Glu)	rs63750526
NM_000026.4(ADSL):c.1315C>T (p.Gln439Ter)	rs2044946255
NM_000026.4(ADSL):c.568C>G (p.Arg190Gly)	rs750614500
NM_000030.3(AGXT):c.519_520delinsGA (p.Cys173_His174delinsTrpAsn)	rs180177233
NM_000030.3(AGXT):c.847-1G>C	rs180177285
NM_000033.4(ABCD1):c.1477C>G (p.Leu493Val)	rs1354388799
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln)	rs1557055340
NM_000033.4(ABCD1):c.739G>A (p.Ala247Thr)	rs782487174
NM_000044.6(AR):c.1605del (p.Pro534_Tyr535insTer)	rs2519612464
NM_000048.4(ASL):c.556C>T (p.Arg186Trp)	rs111407265
NM_000051.4(ATM):c.1215del (p.Asn405fs)	rs1555069815
NM_000051.4(ATM):c.3756_3757dup (p.Lys1253fs)	rs1555093289
NM_000051.4(ATM):c.6838_6839dup (p.Gln2280fs)	rs2136332542
NM_000051.4(ATM):c.7629_7629+4del	rs876660041
NM_000052.7(ATP7A):c.4124-538A>G	rs2149113261
NM_000053.4(ATP7B):c.2532del (p.Val845fs)	rs755709270
NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter)	rs572147914
NM_000059.4(BRCA2):c.2606C>T (p.Ser869Leu)	rs80358523
NM_000070.3(CAPN3):c.1115+2T>C	rs1057524468
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg)	rs775453643
NM_000070.3(CAPN3):c.550del (p.Thr184fs)	rs80338800
NM_000091.5(COL4A3):c.2008C>T (p.Gln670Ter)
NM_000091.5(COL4A3):c.3546_3548dup (p.Gly1183dup)	rs1175052474
NM_000091.5(COL4A3):c.689G>A (p.Gly230Asp)
NM_000092.5(COL4A4):c.1327_1344del (p.Pro444_Leu449del)	rs1203564054
NM_000092.5(COL4A4):c.1369+1G>A	rs1553676230
NM_000092.5(COL4A4):c.1505dup (p.Gly503fs)
NM_000092.5(COL4A4):c.1715G>C (p.Gly572Ala)	rs1446915781
NM_000092.5(COL4A4):c.2377del (p.Ala793fs)	rs1976320157
NM_000092.5(COL4A4):c.4334-23A>G	rs766501515
NM_000092.5(COL4A4):c.4684del (p.Tyr1562fs)	rs1962591629
NM_000092.5(COL4A4):c.4717del (p.Ala1573fs)	rs2149720724
NM_000092.5(COL4A4):c.4953G>A (p.Trp1651Ter)	rs1408907127
NM_000092.5(COL4A4):c.81_86del (p.27IL[1])	rs771943519
NM_000092.5(COL4A4):c.914_930+29del	rs1553683757
NM_000093.5(COL5A1):c.2497C>T (p.Pro833Ser)	rs370547479
NM_000100.4(CSTB):c.218_219del (p.Leu73fs)	rs796943858
NM_000108.5(DLD):c.1436A>T (p.Asp479Val)	rs397514649
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp)	rs727504327
NM_000117.3(EMD):c.650_654dup (p.Gln219fs)	rs730880352
NM_000135.4(FANCA):c.1812dup (p.Glu605fs)	rs2544226343
NM_000135.4(FANCA):c.3602AAG[1] (p.Glu1202del)	rs1380850249
NM_000138.5(FBN1):c.1285C>T (p.Arg429Ter)	rs112645512
NM_000138.5(FBN1):c.1556A>G (p.Tyr519Cys)	rs1555400278
NM_000138.5(FBN1):c.1837+1G>T	rs397515762
NM_000138.5(FBN1):c.1904A>G (p.Tyr635Cys)	rs1555399816
NM_000138.5(FBN1):c.4787G>C (p.Arg1596Pro)	rs769588424
NM_000138.5(FBN1):c.5788+5G>T	rs193922219
NM_000138.5(FBN1):c.5917+5G>A	rs1555395743
NM_000138.5(FBN1):c.6331T>C (p.Cys2111Arg)	rs363815
NM_000138.5(FBN1):c.6425G>A (p.Cys2142Tyr)	rs794728335
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter)	rs113001196
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys)	rs137854480
NM_000138.5(FBN1):c.7252T>C (p.Cys2418Arg)	rs1555394441
NM_000138.5(FBN1):c.7712G>A (p.Cys2571Tyr)	rs1555394153
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)	rs4647924
NM_000143.4(FH):c.1A>C (p.Met1Leu)	rs776806414
NM_000143.4(FH):c.349G>C (p.Ala117Pro)	rs886039363
NM_000152.5(GAA):c.1214T>C (p.Leu405Pro)	rs2143857207
NM_000152.5(GAA):c.2155G>T (p.Ala719Ser)	rs143324027
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)	rs1800312
NM_000155.4(GALT):c.836T>G (p.Met279Arg)	rs111033779
NM_000156.6(GAMT):c.356dup (p.Asp119fs)	rs2144637533
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln)	rs566417795
NM_000162.5(GCK):c.1358C>T (p.Ser453Leu)	rs193922283
NM_000169.3(GLA):c.383G>A (p.Gly128Glu)	rs2520897726
NM_000173.7(GP1BA):c.217C>T (p.Leu73Phe)	rs121908063
NM_000173.7(GP1BA):c.344T>C (p.Leu115Pro)	rs1597638598
NM_000179.3(MSH6):c.3188T>G (p.Leu1063Arg)	rs1060502901
NM_000181.4(GUSB):c.724+1G>T	rs2116026958
NM_000182.5(HADHA):c.1811del (p.Gly604fs)	rs747985669
NM_000182.5(HADHA):c.800-1G>T	rs1553314024
NM_000186.4(CFH):c.3644G>A (p.Arg1215Gln)
NM_000191.3(HMGCL):c.610del (p.Asp204fs)	rs2148419170
NM_000191.3(HMGCL):c.914_915del (p.Phe305fs)	rs786205431
NM_000202.8(IDS):c.692C>T (p.Pro231Leu)	rs2089450305
NM_000202.8(IDS):c.817C>T (p.Arg273Trp)	rs1602740899
NM_000203.5(IDUA):c.1395dup (p.Gly466fs)	rs1386109118
NM_000217.3(KCNA1):c.496G>A (p.Ala166Thr)	rs1179635654
NM_000218.3(KCNQ1):c.1663C>A (p.Arg555Ser)	rs120074185
NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe)	rs199472804
NM_000218.3(KCNQ1):c.1893dup (p.Arg632fs)	rs397508104
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr)	rs120074177
NM_000218.3(KCNQ1):c.568C>T (p.Arg190Trp)	rs199473662
NM_000218.3(KCNQ1):c.569G>T (p.Arg190Leu)	rs120074178
NM_000218.3(KCNQ1):c.914G>T (p.Trp305Leu)	rs120074186
NM_000231.3(SGCG):c.386-2A>C	rs886042757
NM_000238.4(KCNH2):c.1591C>T (p.Arg531Trp)	rs199472915
NM_000238.4(KCNH2):c.1814C>T (p.Pro605Leu)	rs199472938
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del)	rs104895093
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)	rs61732874
NM_000252.3(MTM1):c.1244G>A (p.Gly415Glu)	rs587783766
NM_000256.3(MYBPC3):c.1224-33G>A
NM_000256.3(MYBPC3):c.1483C>G (p.Arg495Gly)	rs397515905
NM_000256.3(MYBPC3):c.1645C>T (p.Gln549Ter)	rs2142860329
NM_000256.3(MYBPC3):c.1828G>A (p.Asp610Asn)	rs371564200
NM_000256.3(MYBPC3):c.2065C>T (p.Gln689Ter)	rs863224483
NM_000256.3(MYBPC3):c.2432AGA[3] (p.Lys814del)	rs727504288
NM_000256.3(MYBPC3):c.2578_2590dup (p.Phe864fs)	rs2142855105
NM_000256.3(MYBPC3):c.2618C>A (p.Pro873His)	rs371401403
NM_000256.3(MYBPC3):c.3330+5G>C	rs373746463
NM_000256.3(MYBPC3):c.821+3G>T	rs727503213
NM_000256.3(MYBPC3):c.913_914delTT	rs397516080
NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys)	rs606231324
NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys)	rs727503263
NM_000257.4(MYH7):c.2146G>A (p.Gly716Arg)	rs121913638
NM_000257.4(MYH7):c.2539A>G (p.Lys847Glu)	rs727504310
NM_000257.4(MYH7):c.602T>C (p.Ile201Thr)	rs397516258
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn)	rs397516264
NM_000258.3(MYL3):c.170C>G (p.Ala57Gly)	rs139794067
NM_000260.4(MYO7A):c.3109-2A>G	rs781977497
NM_000264.5(PTCH1):c.1561G>A (p.Ala521Thr)	rs781101191
NM_000264.5(PTCH1):c.431G>A (p.Arg144His)	rs1316474105
NM_000276.4(OCRL):c.2581G>A (p.Ala861Thr)	rs2124430527
NM_000276.4(OCRL):c.850G>A (p.Glu284Lys)	rs2124404743
NM_000277.3(PAH):c.1301C>A (p.Ala434Asp)	rs199475659
NM_000277.3(PAH):c.357del (p.Trp120fs)	rs794727619
NM_000277.3(PAH):c.500A>T (p.Asn167Ile)	rs77554925
NM_000278.5(PAX2):c.167G>A (p.Arg56Gln)	rs587777708
NM_000284.4(PDHA1):c.1091T>G (p.Leu364Arg)	rs2518507804
NM_000284.4(PDHA1):c.194A>C (p.Tyr65Ser)	rs2519339682
NM_000284.4(PDHA1):c.483C>T (p.Tyr161=)	rs398123300
NM_000285.4(PEPD):c.418A>T (p.Lys140Ter)	rs1170952773
NM_000292.3(PHKA2):c.3629G>A (p.Gly1210Glu)	rs1601685358
NM_000293.3(PHKB):c.594+1G>A	rs2548342446
NM_000297.4(PKD2):c.1094+3_1094+6del	rs1553925470
NM_000297.4(PKD2):c.1320G>T (p.Arg440Ser)	rs886041114
NM_000297.4(PKD2):c.1837C>T (p.Gln613Ter)	rs2110127334
NM_000297.4(PKD2):c.1843G>A (p.Ala615Thr)	rs1216272782
NM_000297.4(PKD2):c.2019+5G>A	rs1578142944
NM_000297.4(PKD2):c.203dup (p.Ala69fs)	rs1187336837
NM_000297.4(PKD2):c.709+1G>A	rs398123308
NM_000297.4(PKD2):c.959G>A (p.Arg320Gln)
NM_000303.3(PMM2):c.348-2A>G	rs1555449603
NM_000303.3(PMM2):c.458T>G (p.Ile153Arg)	rs150577656
NM_000307.5(POU3F4):c.845G>T (p.Arg282Leu)	rs1060499806
NM_000310.4(PPT1):c.169dup (p.Met57fs)	rs386833634
NM_000312.4(PROC):c.574AAG[1] (p.Lys193del)	rs199469469
NM_000312.4(PROC):c.982C>T (p.Arg328Cys)	rs201907715
NM_000314.8(PTEN):c.103A>G (p.Met35Val)	rs876659443
NM_000314.8(PTEN):c.140G>A (p.Arg47Lys)	rs1057518425
NM_000314.8(PTEN):c.254-6C>T	rs1057520525
NM_000314.8(PTEN):c.371G>A (p.Cys124Tyr)	rs876660535
NM_000314.8(PTEN):c.395G>A (p.Gly132Asp)	rs121909241
NM_000314.8(PTEN):c.397G>A (p.Val133Ile)	rs1859977307
NM_000314.8(PTEN):c.398T>A (p.Val133Glu)
NM_000314.8(PTEN):c.533A>G (p.Tyr178Cys)	rs786204866
NM_000314.8(PTEN):c.563A>G (p.Tyr188Cys)	rs2132269501
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu)	rs587782350
NM_000314.8(PTEN):c.83T>C (p.Ile28Thr)	rs1355570425
NM_000314.8(PTEN):c.91A>G (p.Asn31Asp)	rs1859093459
NM_000334.4(SCN4A):c.4352G>A (p.Arg1451His)	rs748517635
NM_000335.5(SCN5A):c.1140+1G>A	rs730880210
NM_000335.5(SCN5A):c.2729C>T (p.Ser910Leu)	rs199473175
NM_000335.5(SCN5A):c.3803A>G (p.Asn1268Ser)	rs761274563
NM_000335.5(SCN5A):c.4471AAG[1] (p.Lys1492del)	rs869025522
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del)	rs749697698
NM_000335.5(SCN5A):c.935-3C>G	rs766127222
NM_000341.4(SLC3A1):c.1750del (p.Arg584fs)	rs775827496
NM_000342.4(SLC4A1):c.1199_1225del (p.Ala400_Ala408del)	rs769664228
NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp)	rs121912751
NM_000344.4(SMN1):c.785G>T (p.Ser262Ile)	rs1554066659
NM_000348.4(SRD5A2):c.164T>C (p.Leu55Pro)	rs121434245
NM_000350.3(ABCA4):c.286A>G (p.Asn96Asp)	rs61748529
NM_000352.6(ABCC8):c.4412-13G>A	rs1008906426
NM_000352.6(ABCC8):c.563A>G (p.Asn188Ser)	rs797045213
NM_000359.3(TGM1):c.1147G>A (p.Val383Met)	rs121918722
NM_000363.5(TNNI3):c.407G>A (p.Arg136Gln)	rs730881069
NM_000363.5(TNNI3):c.596G>A (p.Ser199Asn)	rs730881091
NM_000372.5(TYR):c.1037G>A (p.Gly346Glu)	rs773970123
NM_000372.5(TYR):c.773_774del (p.Thr258fs)	rs1374400414
NM_000373.4(UMPS):c.857T>A (p.Ile286Asn)	rs200305064
NM_000380.4(XPA):c.648_649del (p.Lys217fs)	rs1057519018
NM_000380.4(XPA):c.759dup (p.Asp254fs)	rs777372873
NM_000382.3(ALDH3A2):c.941_943delinsGGGCTAAAAGTACTGTTGGGG (p.Ala314_Pro315delinsGlyAlaLysSerThrValGlyAla)	rs730880264
NM_000383.4(AIRE):c.967_979del (p.Leu323fs)	rs386833675
NM_000384.3(APOB):c.13477CAG[1] (p.Gln4494del)	rs562574661
NM_000393.5(COL5A2):c.3309G>A (p.Pro1103=)	rs878853978
NM_000414.4(HSD17B4):c.1517G>A (p.Arg506His)	rs1554068136
NM_000419.5(ITGA2B):c.3070T>A (p.Phe1024Ile)	rs1331554337
NM_000426.4(LAMA2):c.2556del (p.Phe852fs)	rs750731624
NM_000426.4(LAMA2):c.8244+3_8244+6del	rs746678525
NM_000435.3(NOTCH3):c.1774C>T (p.Arg592Cys)	rs764148985
NM_000435.3(NOTCH3):c.6405_6406del (p.Leu2137fs)	rs2512609739
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val)	rs146281367
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del)	rs111033306
NM_000441.2(SLC26A4):c.1547dup (p.Ser517fs)	rs786204450
NM_000441.2(SLC26A4):c.1574C>T (p.Pro525Leu)	rs765197819
NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn)	rs397516427
NM_000443.4(ABCB4):c.1015dup (p.Ser339fs)	rs753104429
NM_000443.4(ABCB4):c.202G>A (p.Gly68Arg)	rs1343667900
NM_000454.5(SOD1):c.146A>G (p.His49Arg)	rs1568809172
NM_000458.4(HNF1B):c.1310C>T (p.Pro437Leu)	rs1263484305
NM_000458.4(HNF1B):c.344G>A (p.Ser115Asn)	rs193922487
NM_000458.4(HNF1B):c.370del (p.Lys123_Met124insTer)	rs2511829909
NM_000458.4(HNF1B):c.477del (p.Pro159_Met160insTer)	rs193922489
NM_000458.4(HNF1B):c.544+3_544+6del	rs2033925649
NM_000458.4(HNF1B):c.703C>T (p.Arg235Trp)	rs193922491
NM_000458.4(HNF1B):c.854G>A (p.Gly285Asp)	rs2511801988
NM_000458.4(HNF1B):c.884G>A (p.Arg295His)	rs886043813
NM_000466.3(PEX1):c.3152_3156del (p.Leu1051fs)	rs2116077430
NM_000478.6(ALPL):c.1328C>T (p.Ala443Val)	rs768053120
NM_000487.6(ARSA):c.739G>A (p.Gly247Arg)	rs74315471
NM_000489.6(ATRX):c.6532C>T (p.Arg2178Trp)	rs1057517707
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)	rs113993960
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala)	rs193922500
NM_000492.4(CFTR):c.1538A>G (p.Asp513Gly)	rs397508225
NM_000492.4(CFTR):c.3068T>G (p.Ile1023Arg)	rs756219310
NM_000492.4(CFTR):c.4300_4301dup (p.Ser1435fs)	rs397508709
NM_000492.4(CFTR):c.4433C>G (p.Thr1478Arg)	rs753173837
NM_000500.9(CYP21A2):c.293-13C>G	rs6467
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu)	rs6471
NM_000500.9(CYP21A2):c.923dup (p.Leu308fs)	rs267606756
NM_000512.5(GALNS):c.230C>G (p.Pro77Arg)	rs1422505598
NM_000512.5(GALNS):c.647T>C (p.Phe216Ser)	rs747805226
NM_000520.6(HEXA):c.736G>A (p.Ala246Thr)	rs758166013
NM_000527.5(LDLR):c.1049G>C (p.Arg350Pro)	rs875989914
NM_000527.5(LDLR):c.1145G>T (p.Gly382Val)	rs752951310
NM_000527.5(LDLR):c.1158C>G (p.Asp386Glu)	rs879254810
NM_000527.5(LDLR):c.1478_1479del (p.Ser493fs)	rs869025453
NM_000527.5(LDLR):c.1879G>A (p.Ala627Thr)	rs879255066
NM_000527.5(LDLR):c.313+2dup	rs875989897
NM_000527.5(LDLR):c.337G>T (p.Glu113Ter)	rs769383881
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu)	rs121908028
NM_000527.5(LDLR):c.79T>C (p.Cys27Arg)	rs1555802245
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.2248C>T (p.Arg750Trp)	rs80338680
NM_000531.6(OTC):c.618G>A (p.Met206Ile)	rs72558413
NM_000531.6(OTC):c.618G>T (p.Met206Ile)	rs72558413
NM_000533.5(PLP1):c.655G>T (p.Val219Phe)	rs132630281
NM_000536.4(RAG2):c.1247G>T (p.Trp416Leu)	rs193922572
NM_000539.3(RHO):c.448G>A (p.Glu150Lys)	rs104893791
NM_000540.3(RYR1):c.1021G>A (p.Gly341Arg)	rs121918592
NM_000540.3(RYR1):c.1202G>T (p.Arg401Leu)	rs193922766
NM_000540.3(RYR1):c.14477C>T (p.Thr4826Ile)	rs121918595
NM_000540.3(RYR1):c.14581C>T (p.Arg4861Cys)	rs118192181
NM_000540.3(RYR1):c.1615T>C (p.Phe539Leu)	rs193922769
NM_000540.3(RYR1):c.7291G>T (p.Asp2431Tyr)	rs193922810
NM_000546.6(TP53):c.581T>A (p.Leu194His)	rs1057519998
NM_000548.5(TSC2):c.1864C>T (p.Arg622Trp)	rs397514914
NM_000548.5(TSC2):c.4628A>G (p.His1543Arg)	rs2090628516
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del)	rs137854218
NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln)	rs61749370
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu)	rs61749370
NM_000587.4(C7):c.1561C>A (p.Arg521Ser)	rs121964920
NM_000642.3(AGL):c.2155C>T (p.Gln719Ter)	rs1652018859
NM_000642.3(AGL):c.4256dup (p.Asp1420fs)	rs1557792839
NM_000744.7(CHRNA4):c.851C>T (p.Ser284Leu)	rs28931591
NM_000810.4(GABRA5):c.902C>T (p.Thr301Met)	rs1595438268
NM_000834.5(GRIN2B):c.99dup (p.Ser34fs)	rs398122823
NM_000875.5(IGF1R):c.824G>A (p.Arg275His)	rs1250642880
NM_000891.3(KCNJ2):c.935G>A (p.Arg312His)	rs786205820
NM_000969.5(RPL5):c.155_156dup (p.Val53Ter)	rs2100677045
NM_001002295.2(GATA3):c.1099C>T (p.Arg367Ter)	rs104894164
NM_001002295.2(GATA3):c.431dup (p.His145fs)	rs1588377948
NM_001003694.2(BRPF1):c.1433G>A (p.Trp478Ter)	rs2125501418
NM_001005242.3(PKP2):c.2377del (p.Ser793fs)	rs727504432
NM_001005273.3(CHD3):c.2404C>T (p.Arg802Trp)
NM_001005361.3(DNM2):c.1565G>A (p.Arg522His)	rs587783595
NM_001009944.3(PKD1):c.10118C>A (p.Ser3373Ter)	rs373222937
NM_001009944.3(PKD1):c.10167+25_10167+43del	rs1197421698
NM_001009944.3(PKD1):c.10373C>T (p.Pro3458Leu)
NM_001009944.3(PKD1):c.10698GGCTGT[2] (p.3567AV[2])	rs777460677
NM_001009944.3(PKD1):c.10821+1G>A	rs1596488823
NM_001009944.3(PKD1):c.11258G>A (p.Arg3753Gln)	rs1555446330
NM_001009944.3(PKD1):c.11342ACG[3] (p.Asp3782_Val3783insAsp)	rs2091618553
NM_001009944.3(PKD1):c.11567_11568del (p.Arg3856fs)	rs2544615278
NM_001009944.3(PKD1):c.11654_11683del (p.Val3885_Ser3894del)
NM_001009944.3(PKD1):c.11711C>G (p.Ser3904Trp)	rs2091571469
NM_001009944.3(PKD1):c.11773G>T (p.Glu3925Ter)	rs1425693814
NM_001009944.3(PKD1):c.11927G>T (p.Ser3976Ile)	rs1022699284
NM_001009944.3(PKD1):c.12448C>T (p.Arg4150Cys)	rs1282668884
NM_001009944.3(PKD1):c.12449G>A (p.Arg4150His)	rs36221080
NM_001009944.3(PKD1):c.12577C>T (p.Gln4193Ter)	rs2544579185
NM_001009944.3(PKD1):c.1261C>T (p.Arg421Cys)	rs1567216536
NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter)	rs755496450
NM_001009944.3(PKD1):c.12712C>T (p.Gln4238Ter)	rs1045675831
NM_001009944.3(PKD1):c.12721C>T (p.Gln4241Ter)	rs2091391674
NM_001009944.3(PKD1):c.1295C>T (p.Ala432Val)	rs1060499699
NM_001009944.3(PKD1):c.1396G>A (p.Val466Met)	rs2855341
NM_001009944.3(PKD1):c.1522T>C (p.Cys508Arg)	rs58598099
NM_001009944.3(PKD1):c.1544G>T (p.Gly515Val)	rs2092647090
NM_001009944.3(PKD1):c.1831C>T (p.Arg611Trp)	rs1555458413
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)	rs1616940
NM_001009944.3(PKD1):c.2180T>G (p.Leu727Arg)	rs1616940
NM_001009944.3(PKD1):c.297CAA[2] (p.Asn101del)	rs2544885084
NM_001009944.3(PKD1):c.3162-1G>C	rs2544837759
NM_001009944.3(PKD1):c.3295+1G>A
NM_001009944.3(PKD1):c.3381_3387dup (p.Ala1130fs)	rs2544831329
NM_001009944.3(PKD1):c.341_345del (p.Asn113_Leu114insTer)	rs2544884834
NM_001009944.3(PKD1):c.3490G>A (p.Gly1164Arg)	rs2151801188
NM_001009944.3(PKD1):c.359+5G>A	rs2092683412
NM_001009944.3(PKD1):c.359T>C (p.Ile120Thr)	rs1555459345
NM_001009944.3(PKD1):c.3716ACA[1] (p.Asn1240del)	rs1567202750
NM_001009944.3(PKD1):c.3955G>A (p.Gly1319Arg)	rs747362311
NM_001009944.3(PKD1):c.4346ACA[1] (p.Asn1450del)	rs2092482302
NM_001009944.3(PKD1):c.4394C>T (p.Pro1465Leu)	rs777140825
NM_001009944.3(PKD1):c.4507G>A (p.Gly1503Arg)	rs2092478372
NM_001009944.3(PKD1):c.4825ATC[1] (p.Ile1610del)	rs1567198691
NM_001009944.3(PKD1):c.4957C>T (p.Gln1653Ter)	rs1596557065
NM_001009944.3(PKD1):c.5609A>G (p.Asn1870Ser)	rs2544811132
NM_001009944.3(PKD1):c.5995G>A (p.Gly1999Ser)	rs2092437527
NM_001009944.3(PKD1):c.6382A>G (p.Asn2128Asp)	rs2151788281
NM_001009944.3(PKD1):c.6394TTC[1] (p.Phe2133del)	rs1555454460
NM_001009944.3(PKD1):c.6842C>T (p.Ser2281Phe)
NM_001009944.3(PKD1):c.7108T>C (p.Cys2370Arg)	rs1567187445
NM_001009944.3(PKD1):c.7300C>T (p.Arg2434Trp)	rs151257298
NM_001009944.3(PKD1):c.7489+5G>A	rs2092337963
NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys)	rs797044902
NM_001009944.3(PKD1):c.7837_7839del (p.Leu2613del)	rs2544775052
NM_001009944.3(PKD1):c.7903G>T (p.Glu2635Ter)	rs778979740
NM_001009944.3(PKD1):c.7927C>T (p.Arg2643Cys)	rs1452322332
NM_001009944.3(PKD1):c.8284_8295del (p.Ile2762_Arg2765del)	rs1596527370
NM_001009944.3(PKD1):c.8284_8295dup (p.Ile2762_Arg2765dup)	rs1596527370
NM_001009944.3(PKD1):c.8288T>C (p.Leu2763Pro)	rs2092204260
NM_001009944.3(PKD1):c.8299C>T (p.Arg2767Cys)	rs2092203712
NM_001009944.3(PKD1):c.8932TTC[1] (p.Phe2979del)	rs1358948221
NM_001009944.3(PKD1):c.8998C>G (p.Arg3000Gly)
NM_001009944.3(PKD1):c.9100GAG[1] (p.Glu3035del)	rs2544733084
NM_001009944.3(PKD1):c.9611A>T (p.Asp3204Val)	rs1596513913
NM_001010867.4(IBA57):c.262dup (p.Ala88fs)	rs1558123212
NM_001018005.2(TPM1):c.188C>T (p.Ala63Val)	rs199476306
NM_001025295.3(IFITM5):c.-14C>T	rs587776916
NM_001029896.2(WDR45):c.746CCT[1] (p.Ser250del)	rs1064793294
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His)	rs886041246
NM_001032221.6(STXBP1):c.37+2dup	rs1838431452
NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu)	rs796053353
NM_001032221.6(STXBP1):c.569G>A (p.Arg190Gln)	rs796053356
NM_001032221.6(STXBP1):c.847G>A (p.Glu283Lys)	rs587777310
NM_001035.3(RYR2):c.12608C>T (p.Ala4203Val)	rs794728792
NM_001035.3(RYR2):c.13823G>A (p.Arg4608Gln)	rs1553328170
NM_001035.3(RYR2):c.14569A>G (p.Ile4857Val)	rs1085307524
NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys)	rs1131692231
NM_001040142.2(SCN2A):c.4976C>T (p.Ala1659Val)	rs1060503101
NM_001040142.2(SCN2A):c.5636T>C (p.Met1879Thr)	rs2105403536
NM_001042424.3(NSD2):c.4028del (p.Pro1343fs)	rs752037034
NM_001042475.3(CEP85L):c.193G>A (p.Asp65Asn)	rs1774229245
NM_001042492.3(NF1):c.2252-2A>G	rs1131691105
NM_001042492.3(NF1):c.2288T>C (p.Leu763Pro)	rs199474762
NM_001042492.3(NF1):c.2342A>C (p.His781Pro)	rs199474763
NM_001042492.3(NF1):c.245C>T (p.Ser82Phe)	rs199474729
NM_001042492.3(NF1):c.2851G>T (p.Val951Phe)	rs1597716277
NM_001042492.3(NF1):c.3047G>A (p.Cys1016Tyr)	rs2067091492
NM_001042492.3(NF1):c.3545T>C (p.Val1182Ala)	rs2067142076
NM_001042492.3(NF1):c.4110+945A>G	rs2067468999
NM_001042492.3(NF1):c.4340A>G (p.Gln1447Arg)	rs786204157
NM_001042492.3(NF1):c.5651T>G (p.Phe1884Cys)	rs2151544505
NM_001042492.3(NF1):c.5787G>C (p.Glu1929Asp)	rs786202591
NM_001042492.3(NF1):c.7000G>C (p.Gly2334Arg)	rs1597848100
NM_001042681.2(RERE):c.4307TCCACC[3] (p.1436LH[3])	rs1064793252
NM_001044385.3(TMEM237):c.1066dup (p.Gln356fs)	rs751952525
NM_001065.4(TNFRSF1A):c.123T>G (p.Asp41Glu)	rs104895271
NM_001069.3(TUBB2A):c.533C>T (p.Thr178Met)	rs886039447
NM_001069.3(TUBB2A):c.728C>T (p.Pro243Leu)	rs1554122947
NM_001077350.3(NPRL3):c.980C>T (p.Pro327Leu)	rs1898841618
NM_001079668.3(NKX2-1):c.613G>T (p.Glu205Ter)	rs137852693
NM_001080.3(ALDH5A1):c.1402+1G>T	rs762290992
NM_001080517.3(SETD5):c.1525-1G>C	rs2125271279
NM_001080517.3(SETD5):c.960-5C>G	rs2125193661
NM_001081550.2(THOC2):c.229C>T (p.Arg77Cys)	rs1556302160
NM_001083962.2(TCF4):c.1739G>A (p.Arg580Gln)	rs121909121
NM_001083962.2(TCF4):c.1879+1G>A	rs2144400328
NM_001098.3(ACO2):c.2338_2339del (p.Gln780fs)	rs1114167284
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys)	rs1555408401
NM_001101.5(ACTB):c.209C>T (p.Pro70Leu)	rs587779769
NM_001101.5(ACTB):c.307G>C (p.Val103Leu)	rs587779772
NM_001101.5(ACTB):c.617G>A (p.Arg206Gln)	rs886039472
NM_001109878.2(TBX22):c.166G>T (p.Glu56Ter)	rs104894945
NM_001110556.2(FLNA):c.1923C>T (p.Gly641=)	rs80338841
NM_001110556.2(FLNA):c.3596C>T (p.Ser1199Leu)	rs28935473
NM_001110792.2(MECP2):c.1214_1221del (p.Pro405fs)	rs267608383
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp)	rs28934907
NM_001110792.2(MECP2):c.507C>A (p.Phe169Leu)	rs267608484
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)	rs28934906
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp)	rs61748420
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)	rs61749721
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)	rs61751362
NM_001110792.2(MECP2):c.945C>G (p.Ile315Met)	rs61751439
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg)	rs398122822
NM_001111125.3(IQSEC2):c.3279G>A (p.Ser1093=)	rs1602260263
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu)	rs606231451
NM_001114753.3(ENG):c.1311+2T>C	rs111694746
NM_001114753.3(ENG):c.1645T>G (p.Cys549Gly)	rs1830376644
NM_001114753.3(ENG):c.1833G>A (p.Trp611Ter)
NM_001114753.3(ENG):c.277C>T (p.Arg93Ter)	rs886039506
NM_001114753.3(ENG):c.991G>A (p.Gly331Ser)	rs1060501410
NM_001122659.3(EDNRB):c.596+1G>A	rs1879111145
NM_001126108.2(SLC12A3):c.1196G>T (p.Arg399Leu)	rs13306668
NM_001126108.2(SLC12A3):c.1258_1262del (p.Ala420fs)	rs2144711571
NM_001126108.2(SLC12A3):c.2963_2966dup (p.Tyr990fs)	rs769798104
NM_001127222.2(CACNA1A):c.1615G>A (p.Gly539Arg)	rs2145030587
NM_001127222.2(CACNA1A):c.3787G>A (p.Glu1263Lys)	rs1555751762
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter)	rs121909324
NM_001127392.3(MYRF):c.789del (p.Ser264fs)	rs769274302
NM_001130438.3(SPTAN1):c.6616GAG[1] (p.Glu2207del)	rs587784438
NM_001130823.3(DNMT1):c.1532A>G (p.Tyr511Cys)	rs199473690
NM_001134232.2(TMEM106B):c.754G>A (p.Asp252Asn)	rs1554310600
NM_001134407.3(GRIN2A):c.1007+1G>A	rs397518465
NM_001134831.2(AHI1):c.1420del (p.Ile474fs)	rs1369440486
NM_001142784.3(IL11RA):c.331+6T>G	rs2492900300
NM_001142800.2(EYS):c.9166_9167delinsCCTCCC (p.Ile3056fs)	rs2533386765
NM_001142966.3(GREB1L):c.3970-20A>G	rs1353636049
NM_001145809.2(MYH14):c.571G>A (p.Asp191Asn)	rs2514302844
NM_001159390.2(GUK1):c.61+1G>T
NM_001163435.3(TBCK):c.1370dup (p.Asn457fs)	rs746860249
NM_001164277.2(SLC37A4):c.74_77del (p.Tyr25fs)	rs1447366650
NM_001164508.2(NEB):c.24177_24178del (p.Arg8059fs)	rs1266535163
NM_001164508.2(NEB):c.9465del (p.Ile3156fs)	rs1553939600
NM_001165963.4(SCN1A):c.2837G>C (p.Arg946Pro)	rs121917971
NM_001170629.2(CHD8):c.6447_6450del (p.Arg2150fs)
NM_001172509.2(SATB2):c.1166G>A (p.Arg389His)	rs1247886882
NM_001174147.2(LMX1B):c.784G>A (p.Val262Met)	rs1588307464
NM_001177316.2(SLC34A3):c.1576CTC[1] (p.Leu527del)	rs776275610
NM_001184880.2(PCDH19):c.1538G>T (p.Gly513Val)	rs1928380918
NM_001184880.2(PCDH19):c.1671C>G (p.Asn557Lys)	rs267606933
NM_001190737.2(NFIB):c.115C>T (p.Arg39Cys)	rs1588253471
NM_001195263.2(PDZD7):c.2107del (p.Ser703fs)	rs397516633
NM_001197104.2(KMT2A):c.6445C>T (p.Arg2149Ter)	rs781843315
NM_001232.4(CASQ2):c.546del (p.Phe182fs)	rs763955301
NM_001242896.3(DEPDC5):c.3563+1G>C	rs1261611694
NM_001244008.2(KIF1A):c.1040A>G (p.Tyr347Cys)	rs879254004
NM_001244008.2(KIF1A):c.3391G>A (p.Asp1131Asn)	rs2537277627
NM_001244008.2(KIF1A):c.647G>A (p.Arg216His)	rs672601368
NM_001244008.2(KIF1A):c.821C>T (p.Ser274Leu)	rs797045655
NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp)	rs672601370
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs)	rs587779388
NM_001256317.3(TMPRSS3):c.208del (p.His70fs)	rs727503493
NM_001257180.2(SLC20A2):c.1723G>A (p.Glu575Lys)	rs387906653
NM_001257180.2(SLC20A2):c.1802C>T (p.Ser601Leu)	rs387906652
NM_001267550.2(TTN):c.11254+1G>C
NM_001267550.2(TTN):c.53393del (p.Gly17798fs)	rs794729324
NM_001267550.2(TTN):c.54112del (p.Glu18038fs)	rs794729325
NM_001267550.2(TTN):c.57718C>T (p.Arg19240Ter)	rs2051361827
NM_001267550.2(TTN):c.58870C>T (p.Arg19624Ter)	rs1553649171
NM_001267550.2(TTN):c.92683C>T (p.Arg30895Ter)	rs869312065
NM_001271.4(CHD2):c.3221G>A (p.Arg1074Gln)	rs1567152270
NM_001271696.3(ABCB7):c.2021A>G (p.Asp674Gly)	rs762876355
NM_001273.5(CHD4):c.2975G>A (p.Arg992Gln)
NM_001273.5(CHD4):c.3529C>T (p.Arg1177Cys)	rs2136209186
NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del)	rs45578238
NM_001281740.3(FHOD3):c.1646+2T>C	rs2517826070
NM_001291415.2(KDM6A):c.1739C>T (p.Thr580Ile)	rs1340911940
NM_001303052.2(MYT1L):c.1585G>A (p.Gly529Arg)	rs1275489527
NM_001303052.2(MYT1L):c.2221_2230del (p.Thr741fs)	rs1253072668
NM_001303256.3(MORC2):c.328C>T (p.Arg110Cys)	rs2040817364
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys)	rs1064795559
NM_001312673.2(PCYT1A):c.990del (p.Ser331fs)	rs587777193
NM_001312909.2(FAM111A):c.1706G>A (p.Arg569His)	rs587777011
NM_001318852.2(MAPK8IP3):c.3439C>T (p.Arg1147Cys)	rs1567214097
NM_001320.7(CSNK2B):c.292-2A>G	rs1802000298
NM_001320.7(CSNK2B):c.325T>C (p.Cys109Arg)	rs2536966124
NM_001320.7(CSNK2B):c.569T>C (p.Phe190Ser)	rs2536970927
NM_001321120.2(TBX4):c.292C>G (p.Pro98Ala)	rs2143820895
NM_001323289.2(CDKL5):c.470C>T (p.Ala157Val)	rs863225066
NM_001323289.2(CDKL5):c.616G>T (p.Asp206Tyr)	rs1555950468
NM_001330260.2(SCN8A):c.3967G>A (p.Ala1323Thr)	rs794727361
NM_001347721.2(DYRK1A):c.250_251del (p.Leu84fs)	rs2148571595
NM_001347721.2(DYRK1A):c.638-9_638-5del	rs1555984064
NM_001348323.3(TRIP12):c.5801C>T (p.Pro1934Leu)	rs747501109
NM_001348323.3(TRIP12):c.6122C>T (p.Pro2041Leu)	rs2032214426
NM_001348716.2(KDM6B):c.1085_1088del (p.Glu362fs)	rs769566928
NM_001348716.2(KDM6B):c.1416_1417del (p.Cys473fs)	rs2078587931
NM_001348716.2(KDM6B):c.496C>T (p.Arg166Ter)	rs2078539742
NM_001349338.3(FOXP1):c.1540C>T (p.Arg514Cys)	rs869025203
NM_001349338.3(FOXP1):c.1541G>A (p.Arg514His)	rs797045586
NM_001349338.3(FOXP1):c.1568T>C (p.Phe523Ser)	rs1559602593
NM_001349338.3(FOXP1):c.1652+5G>A	rs794727216
NM_001353345.2(SETD1B):c.22dup (p.His8fs)	rs777278685
NM_001354712.2(THRB):c.1373T>C (p.Val458Ala)	rs121918704
NM_001354712.2(THRB):c.994G>A (p.Gly332Arg)	rs28999969
NM_001356.5(DDX3X):c.1126C>T (p.Arg376Cys)	rs796052231
NM_001356.5(DDX3X):c.1582C>T (p.Arg528Cys)	rs1064795323
NM_001356.5(DDX3X):c.1600C>T (p.Arg534Cys)	rs1555954284
NM_001356.5(DDX3X):c.874C>T (p.Arg292Ter)	rs1555953488
NM_001360.3(DHCR7):c.1228G>C (p.Gly410Arg)	rs80338862
NM_001360.3(DHCR7):c.385_412+5del	rs746482788
NM_001360.3(DHCR7):c.740C>T (p.Ala247Val)	rs886041354
NM_001360.3(DHCR7):c.906C>G (p.Phe302Leu)	rs80338858
NM_001360.3(DHCR7):c.911G>A (p.Trp304Ter)	rs2539216620
NM_001360.3(DHCR7):c.964-1G>C	rs138659167
NM_001360016.2(G6PD):c.835A>T (p.Thr279Ser)	rs2148329890
NM_001363.5(DKC1):c.361A>G (p.Ser121Gly)	rs121912305
NM_001363711.2(DUOX2):c.602dup (p.Gln202fs)	rs567500345
NM_001365536.1(SCN9A):c.1828C>A (p.Pro610Thr)	rs41268673
NM_001365902.3(NFIX):c.325G>T (p.Asp109Tyr)	rs2145192459
NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met)	rs1564493599
NM_001367561.1(DOCK7):c.4243C>T (p.Arg1415Ter)	rs1644562145
NM_001367721.1(CASK):c.1837C>T (p.Arg613Ter)	rs779508996
NM_001367721.1(CASK):c.464C>T (p.Ser155Leu)	rs2519234687
NM_001367721.1(CASK):c.764G>A (p.Arg255His)	rs587783369
NM_001368067.1(LDB3):c.439G>A (p.Ala147Thr)	rs121908333
NM_001368882.1(COL13A1):c.513del (p.Gly172fs)	rs1564932829
NM_001368894.2(PAX6):c.141G>T (p.Gln47His)	rs2135147324
NM_001369.3(DNAH5):c.3598+2T>C	rs981267400
NM_001369.3(DNAH5):c.5851_5852del (p.Asp1951fs)	rs2546902682
NM_001369369.1(FOXN1):c.974T>C (p.Leu325Pro)	rs1597566470
NM_001370259.2(MEN1):c.1087_1089del (p.Glu363del)	rs869025185
NM_001372066.1(TFAP2A):c.767G>A (p.Arg256Gln)	rs151344530
NM_001374828.1(ARID1B):c.3955dup (p.Gln1319fs)	rs1289067120
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=)	rs797045277
NM_001374828.1(ARID1B):c.5939_5942del (p.Lys1980fs)	rs886041706
NM_001374828.1(ARID1B):c.7069_7070del (p.Leu2357fs)	rs1794584714
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys)	rs587780564
NM_001377.3(DYNC2H1):c.6387G>T (p.Trp2129Cys)	rs1332318318
NM_001378452.1(ITPR1):c.4684G>A (p.Val1562Met)	rs397514535
NM_001378452.1(ITPR1):c.742_744del (p.Glu248del)	rs1559603328
NM_001378454.1(ALMS1):c.12363-5C>G	rs774448248
NM_001378454.1(ALMS1):c.2912_2915del (p.Asp971fs)	rs1671880172
NM_001378743.1(CYLD):c.2155A>G (p.Met719Val)	rs1971438573
NM_001379029.1(CERT1):c.395C>T (p.Ser132Leu)	rs1064794019
NM_001379403.1(WDR26):c.823-10A>G	rs1674395504
NM_001382430.1(AKT1):c.288-4G>T	rs778501455
NM_001384474.1(LOXHD1):c.2874_2891dup (p.Ser960_Ser965dup)	rs759237437
NM_001394998.1(TANC2):c.5519G>A (p.Ser1840Asn)	rs2147427904
NM_001395891.1(CLASP1):c.196-607G>A	rs180755563
NM_001399.5(EDA):c.924+8C>A	rs370406516
NM_001613.4(ACTA2):c.353G>A (p.Arg118Gln)	rs112602953
NM_001614.5(ACTG1):c.430G>A (p.Ala144Thr)	rs11549196
NM_001658.4(ARF1):c.296G>A (p.Arg99His)	rs1558087712
NM_001692.4(ATP6V1B1):c.343_349del (p.Thr115fs)	rs2466285143
NM_001754.5(RUNX1):c.566_584dup (p.Thr196fs)	rs2146235138
NM_001830.4(CLCN4):c.949G>A (p.Val317Ile)	rs1064796023
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys)	rs121912884
NM_001845.6(COL4A1):c.3592G>A (p.Gly1198Arg)	rs2139156247
NM_001875.5(CPS1):c.2161C>T (p.Arg721Ter)	rs202107577
NM_001875.5(CPS1):c.3313C>T (p.Pro1105Ser)	rs761921978
NM_001904.4(CTNNB1):c.1759C>T (p.Arg587Ter)	rs1064796453
NM_001904.4(CTNNB1):c.1981C>T (p.Arg661Ter)	rs748294403
NM_001931.5(DLAT):c.470T>G (p.Val157Gly)	rs797044957
NM_001953.5(TYMP):c.893G>A (p.Gly298Asp)	rs1064792872
NM_001958.5(EEF1A2):c.271G>A (p.Asp91Asn)	rs886041197
NM_001999.4(FBN2):c.6055G>A (p.Glu2019Lys)	rs1554119321
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.6950_6957del (p.Ala2316_Ser2317insTer)	rs578184315
NM_002055.5(GFAP):c.382G>A (p.Asp128Asn)	rs267607509
NM_002074.5(GNB1):c.230G>A (p.Gly77Asp)	rs1135401746
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)	rs752746786
NM_002074.5(GNB1):c.388G>A (p.Glu130Lys)	rs1553194155
NM_002397.5(MEF2C):c.43C>T (p.Arg15Cys)	rs796052728
NM_002471.4(MYH6):c.5476_5477delinsAA (p.Gly1826Asn)	rs878854502
NM_002473.6(MYH9):c.2114G>A (p.Arg705His)	rs80338828
NM_002473.6(MYH9):c.287C>T (p.Ser96Leu)	rs121913657
NM_002473.6(MYH9):c.4340A>G (p.Asp1447Gly)	rs797044804
NM_002474.3(MYH11):c.3757AAG[3] (p.Lys1256del)	rs730880147
NM_002495.4(NDUFS4):c.221del (p.Thr74fs)	rs2478786907
NM_002524.5(NRAS):c.175G>A (p.Ala59Thr)	rs730880965
NM_002526.4(NT5E):c.1608dup (p.Val537fs)	rs774200574
NM_002576.5(PAK1):c.391T>A (p.Tyr131Asn)	rs2137081759
NM_002641.4(PIGA):c.98A>G (p.His33Arg)	rs797044924
NM_002693.3(POLG):c.3509T>G (p.Leu1170Arg)	rs796052913
NM_002693.3(POLG):c.3538_3539dup (p.Ala1182fs)	rs2509185174
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg)	rs886037952
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val)	rs397507547
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly)	rs121918454
NM_002834.5(PTPN11):c.329A>C (p.Glu110Ala)	rs397507519
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)	rs397507520
NM_002834.5(PTPN11):c.767A>G (p.Gln256Arg)	rs397507523
NM_002834.5(PTPN11):c.853T>G (p.Phe285Val)	rs397507531
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu)	rs80338796
NM_002968.3(SALL1):c.2050C>T (p.Gln684Ter)	rs1597229404
NM_003042.4(SLC6A1):c.863C>T (p.Ala288Val)	rs794726860
NM_003042.4(SLC6A1):c.889G>A (p.Gly297Arg)	rs876657400
NM_003042.4(SLC6A1):c.919G>A (p.Gly307Arg)	rs1553689696
NM_003070.5(SMARCA2):c.3484C>T (p.Arg1162Cys)	rs1057518414
NM_003072.5(SMARCA4):c.2936G>A (p.Arg979Gln)	rs797045981
NM_003073.5(SMARCB1):c.110G>A (p.Arg37His)	rs398122368
NM_003091.4(SNRPB):c.155+301G>C	rs786201019
NM_003104.6(SORD):c.757del (p.Ala253fs)	rs55901542
NM_003107.3(SOX4):c.1040C>A (p.Ser347Ter)	rs2113558441
NM_003119.4(SPG7):c.988-7C>T
NM_003126.4(SPTA1):c.4339-99C>T	rs200830867
NM_003172.4(SURF1):c.574_575insCTGC (p.Arg192fs)	rs782289759
NM_003282.4(TNNI2):c.525G>T (p.Lys175Asn)	rs797046046
NM_003334.4(UBA1):c.122T>C (p.Met41Thr)	rs782416867
NM_003361.4(UMOD):c.175G>T (p.Asp59Tyr)	rs2507391033
NM_003361.4(UMOD):c.317G>A (p.Cys106Tyr)	rs398123697
NM_003361.4(UMOD):c.548A>G (p.Tyr183Cys)	rs1064796542
NM_003361.4(UMOD):c.889T>C (p.Cys297Arg)
NM_003403.5(YY1):c.1025G>A (p.Arg342Gln)	rs2549138607
NM_003482.4(KMT2D):c.12053C>T (p.Thr4018Ile)	rs1304208223
NM_003482.4(KMT2D):c.12268C>T (p.Gln4090Ter)	rs1555188155
NM_003482.4(KMT2D):c.14075+1G>A	rs1057516039
NM_003482.4(KMT2D):c.15061C>T (p.Arg5021Ter)	rs587783695
NM_003482.4(KMT2D):c.15536G>A (p.Arg5179His)	rs267607237
NM_003482.4(KMT2D):c.4395dup (p.Lys1466fs)	rs1555195118
NM_003482.4(KMT2D):c.4840C>T (p.Arg1614Trp)	rs375118713
NM_003482.4(KMT2D):c.6595del (p.Tyr2199fs)	rs398123753
NM_003482.4(KMT2D):c.7814A>G (p.Tyr2605Cys)	rs1324342513
NM_003542.4(H4C3):c.275A>G (p.Lys92Arg)	rs2113784630
NM_003718.5(CDK13):c.2149G>A (p.Gly717Arg)	rs1057519632
NM_003718.5(CDK13):c.484dup (p.Ala162fs)	rs1405252481
NM_003797.5(EED):c.581A>G (p.Asn194Ser)	rs1945710855
NM_003998.4(NFKB1):c.730+4A>G	rs869320688
NM_003998.4(NFKB1):c.904dup (p.Ser302fs)	rs773694113
NM_004004.6(GJB2):c.176_191del (p.Gly59fs)	rs750188782
NM_004004.6(GJB2):c.35G>T (p.Gly12Val)	rs1801002
NM_004004.6(GJB2):c.464A>G (p.Tyr155Cys)	rs776335807
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln)	rs80338950
NM_004004.6(GJB2):c.598G>A (p.Gly200Arg)	rs786204597
NM_004004.6(GJB2):c.632_633del (p.Cys211fs)	rs587783646
NM_004006.3(DMD):c.2623-3C>G	rs863224988
NM_004006.3(DMD):c.31+36947G>A	rs886042106
NM_004006.3(DMD):c.650-39498A>G	rs1556980528
NM_004046.6(ATP5F1A):c.545G>A (p.Arg182Gln)	rs2144189607
NM_004092.4(ECHS1):c.123_124del (p.Gly42fs)	rs746519257
NM_004181.5(UCHL1):c.145CTG[5] (p.Leu52_Phe53insLeu)	rs749368841
NM_004181.5(UCHL1):c.172C>T (p.Gln58Ter)
NM_004183.4(BEST1):c.915T>G (p.Phe305Leu)	rs1565036465
NM_004187.5(KDM5C):c.1592C>T (p.Pro531Leu)
NM_004218.4(RAB11B):c.64G>A (p.Val22Met)	rs1555690779
NM_004247.4(EFTUD2):c.2133-2A>G	rs2508729990
NM_004247.4(EFTUD2):c.2562-2_2562-1del	rs2050474390
NM_004380.3(CREBBP):c.3500A>G (p.Tyr1167Cys)	rs587783481
NM_004380.3(CREBBP):c.3749C>A (p.Thr1250Asn)	rs1567282634
NM_004380.3(CREBBP):c.4336C>T (p.Arg1446Cys)	rs398124146
NM_004380.3(CREBBP):c.4894TTC[1] (p.Phe1633del)	rs1555471931
NM_004380.3(CREBBP):c.5036CCT[1] (p.Ser1680del)	rs587783502
NM_004380.3(CREBBP):c.5615T>C (p.Met1872Thr)	rs879255381
NM_004408.4(DNM1):c.1335+1638G>A	rs747079285
NM_004415.4(DSP):c.1288G>T (p.Glu430Ter)	rs761380979
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter)	rs770873593
NM_004444.5(EPHB4):c.2484+1G>A	rs927772349
NM_004446.3(EPRS1):c.2747G>A (p.Arg916Gln)	rs761131320
NM_004453.4(ETFDH):c.152G>A (p.Arg51Gln)	rs534388496
NM_004453.4(ETFDH):c.1652C>A (p.Ser551Ter)	rs772351035
NM_004463.3(FGD1):c.527del (p.Pro176fs)	rs756586058
NM_004539.4(NARS1):c.1600C>T (p.Arg534Ter)	rs2051507892
NM_004612.4(TGFBR1):c.343+1G>C
NM_004612.4(TGFBR1):c.469C>T (p.Arg157Ter)	rs1060502040
NM_004646.4(NPHS1):c.2072-6C>G	rs200253809
NM_004646.4(NPHS1):c.2404C>T (p.Arg802Trp)	rs386833911
NM_004646.4(NPHS1):c.2606_2607dup (p.Asn870fs)	rs386833921
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs)	rs386833935
NM_004646.4(NPHS1):c.542_543del (p.Ile180_Ser181insTer)	rs2513782246
NM_004700.4(KCNQ4):c.785A>T (p.Asp262Val)	rs80358275
NM_004817.4(TJP2):c.3325G>T (p.Glu1109Ter)	rs1225374015
NM_004830.4(MED23):c.3988C>T (p.Arg1330Ter)	rs527236036
NM_004859.4(CLTC):c.2590G>A (p.Ala864Thr)	rs2509144215
NM_004859.4(CLTC):c.2669C>T (p.Pro890Leu)	rs1555606635
NM_004863.4(SPTLC2):c.1151C>T (p.Ser384Phe)	rs1594986869
NM_004928.3(CFAP410):c.218G>C (p.Arg73Pro)	rs140451304
NM_004937.3(CTNS):c.1000del (p.Thr334fs)	rs2142982656
NM_004970.3(IGFALS):c.583_591dup (p.Ser195_Arg197dup)	rs606231171
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met)	rs1555889162
NM_004975.4(KCNB1):c.877C>T (p.Arg293Cys)	rs1984264748
NM_004985.5(KRAS):c.13A>G (p.Lys5Glu)	rs193929331
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg)	rs587776934
NM_005267.5(GJA8):c.134G>T (p.Trp45Leu)	rs864309688
NM_005267.5(GJA8):c.592C>T (p.Arg198Trp)	rs2524891845
NM_005378.6(MYCN):c.134dup (p.Glu47fs)	rs780080562
NM_005402.4(RALA):c.73G>A (p.Val25Met)	rs1554297905
NM_005476.7(GNE):c.2086G>A (p.Val696Met)	rs121908627
NM_005530.3(IDH3A):c.364G>A (p.Ala122Thr)	rs756333430
NM_005572.4(LMNA):c.1711C>A (p.Arg571Ser)	rs80338938
NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg)	rs397517148
NM_005633.4(SOS1):c.1310T>C (p.Ile437Thr)	rs397517150
NM_005633.4(SOS1):c.2671G>A (p.Glu891Lys)	rs1553353452
NM_005902.4(SMAD3):c.1268G>A (p.Ser423Asn)	rs1555414503
NM_005902.4(SMAD3):c.269G>A (p.Arg90His)	rs886038803
NM_005902.4(SMAD3):c.836G>A (p.Arg279Lys)	rs387906852
NM_005918.4(MDH2):c.157dup (p.Leu53fs)	rs782759642
NM_005957.5(MTHFR):c.1228_1242del (p.Ser410_Lys414del)	rs1297161027
NM_006005.3(WFS1):c.2648_2651del (p.Phe883fs)	rs797045076
NM_006009.4(TUBA1A):c.1225G>A (p.Val409Ile)	rs1565626928
NM_006009.4(TUBA1A):c.190C>T (p.Arg64Trp)	rs1064794568
NM_006009.4(TUBA1A):c.379G>A (p.Asp127Asn)	rs1085308005
NM_006009.4(TUBA1A):c.5G>A (p.Arg2His)	rs587784491
NM_006009.4(TUBA1A):c.791G>A (p.Arg264His)	rs886043627
NM_006009.4(TUBA1A):c.958C>T (p.Arg320Cys)	rs1942168488
NM_006019.4(TCIRG1):c.117+4A>T	rs751881962
NM_006019.4(TCIRG1):c.702del (p.Ile235fs)	rs2495622382
NM_006086.4(TUBB3):c.689C>T (p.Ser230Leu)	rs886041459
NM_006086.4(TUBB3):c.728C>T (p.Pro243Leu)	rs587784506
NM_006086.4(TUBB3):c.982G>A (p.Glu328Lys)	rs1057518686
NM_006158.5(NEFL):c.18C>G (p.Tyr6Ter)	rs2117256073
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)	rs863225082
NM_006245.4(PPP2R5D):c.625C>T (p.His209Tyr)	rs2532475494
NM_006245.4(PPP2R5D):c.751G>A (p.Asp251Asn)	rs1762178916
NM_006245.4(PPP2R5D):c.751G>T (p.Asp251Tyr)	rs1762178916
NM_006245.4(PPP2R5D):c.758G>A (p.Arg253Gln)	rs1131691266
NM_006306.4(SMC1A):c.1994G>A (p.Arg665His)	rs2520927651
NM_006397.3(RNASEH2A):c.179T>C (p.Leu60Pro)	rs373301983
NM_006494.4(ERF):c.248G>A (p.Arg83Gln)	rs758855122
NM_006516.4(SLC2A1):c.377G>A (p.Arg126His)	rs80359816
NM_006516.4(SLC2A1):c.998G>A (p.Arg333Gln)	rs1553155986
NM_006521.6(TFE3):c.350G>A (p.Arg117Gln)	rs2147777346
NM_006521.6(TFE3):c.560C>T (p.Thr187Met)	rs2064742925
NM_006545.5(NPRL2):c.100C>T (p.Arg34Ter)	rs886037963
NM_006565.4(CTCF):c.1133C>T (p.Pro378Leu)	rs2142847512
NM_006580.4(CLDN16):c.103G>A (p.Asp35Asn)	rs2108658339
NM_006715.4(MAN2C1):c.2733_2734del (p.His911fs)	rs763231900
NM_006766.5(KAT6A):c.441dup (p.Arg148fs)	rs2487060716
NM_006772.3(SYNGAP1):c.1676+1G>A	rs2151172748
NM_006772.3(SYNGAP1):c.1685C>T (p.Pro562Leu)	rs397514670
NM_006772.3(SYNGAP1):c.3583-6G>A	rs869312674
NM_006772.3(SYNGAP1):c.490C>T (p.Arg164Ter)	rs1057518352
NM_006785.4(MALT1):c.926_929delGAAG
NM_006852.6(TLK2):c.1015C>T (p.Arg339Trp)	rs1567948262
NM_006852.6(TLK2):c.1121+1G>A	rs2146617330
NM_006888.6(CALM1):c.293A>G (p.Asn98Ser)	rs267607277
NM_006912.6(RIT1):c.116T>G (p.Met39Arg)	rs2102590945
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly)	rs672601334
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu)	rs730881014
NM_006912.6(RIT1):c.270G>A (p.Met90Ile)	rs483352822
NM_006912.6(RIT1):c.270G>C (p.Met90Ile)	rs483352822
NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr)	rs1057518801
NM_006940.6(SOX5):c.1868A>G (p.Tyr623Cys)	rs1591833159
NM_006946.4(SPTBN2):c.1438C>T (p.Arg480Trp)	rs397514749
NM_007055.4(POLR3A):c.1649A>G (p.Tyr550Cys)	rs886047289
NM_007059.4(KPTN):c.714_731dup (p.Gln246_Asp247insMetTrpSerValLeuGln)	rs587777148
NM_007118.4(TRIO):c.4103A>G (p.Asp1368Gly)	rs2152363791
NM_007118.4(TRIO):c.4394A>G (p.Asn1465Ser)	rs1747669042
NM_007129.5(ZIC2):c.800G>A (p.Ser267Asn)	rs2501544777
NM_007217.4(PDCD10):c.557+4_557+7del	rs1553759042
NM_007279.3(U2AF2):c.448C>T (p.Arg150Cys)	rs2123678139
NM_007294.4(BRCA1):c.5363G>A (p.Gly1788Asp)	rs80357069
NM_007317.3(KIF22):c.443C>T (p.Pro148Leu)	rs193922921
NM_007317.3(KIF22):c.446G>A (p.Arg149Gln)	rs193922922
NM_007325.5(GRIA3):c.1957G>A (p.Ala653Thr)	rs1057521721
NM_007327.4(GRIN1):c.1921A>G (p.Met641Val)	rs2131299136
NM_007327.4(GRIN1):c.2422C>G (p.Leu808Val)	rs2538648271
NM_007327.4(GRIN1):c.2452A>C (p.Met818Leu)	rs1554770628
NM_007373.4(SHOC2):c.517A>G (p.Met173Val)	rs1057518206
NM_012144.4(DNAI1):c.1003G>T (p.Val335Phe)	rs11793196
NM_012144.4(DNAI1):c.1046C>A (p.Ala349Glu)	rs745862355
NM_012203.2(GRHPR):c.866_867del (p.Val289fs)	rs180177321
NM_012309.5(SHANK2):c.2521C>T (p.Arg841Ter)	rs2135751909
NM_012479.4(YWHAG):c.395G>A (p.Arg132His)	rs1583981615
NM_013275.6(ANKRD11):c.3084C>A (p.Tyr1028Ter)	rs1064793539
NM_014008.5(CCDC22):c.622G>A (p.Glu208Lys)	rs2147938135
NM_014009.4(FOXP3):c.967+4A>G	rs1426535368
NM_014049.5(ACAD9):c.1429C>T (p.Arg477Ter)	rs866688232
NM_014112.5(TRPS1):c.769C>T (p.Arg257Ter)	rs2130531352
NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp)	rs1057523157
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys)	rs1555582065
NM_014297.5(ETHE1):c.131_132del (p.Glu44fs)	rs761827730
NM_014363.6(SACS):c.470_471del (p.Tyr157fs)	rs1444216187
NM_014458.4(KLHL20):c.1069G>A (p.Gly357Arg)	rs1673582111
NM_014491.4(FOXP2):c.1426C>T (p.Arg476Ter)	rs1178491246
NM_014625.4(NPHS2):c.467dup (p.Leu156fs)	rs528833893
NM_014625.4(NPHS2):c.979C>T (p.Leu327Phe)	rs748203170
NM_014712.3(SETD1A):c.4711C>T (p.Arg1571Ter)
NM_014714.4(IFT140):c.2577+25G>A	rs1423102192
NM_014855.3(AP5Z1):c.1573A>C (p.Lys525Gln)	rs186003800
NM_014915.3(ANKRD26):c.-116C>T	rs1589393739
NM_014915.3(ANKRD26):c.-118C>T	rs1589393759
NM_014915.3(ANKRD26):c.-134G>A	rs863223318
NM_014946.4(SPAST):c.1174G>C (p.Ala392Pro)	rs1558331867
NM_014946.4(SPAST):c.1196C>T (p.Ser399Leu)	rs1553317025
NM_014946.4(SPAST):c.1245+5G>A	rs1553317049
NM_014946.4(SPAST):c.1291C>T (p.Arg431Ter)	rs786204126
NM_014946.4(SPAST):c.1413+3_1413+6del	rs570685843
NM_014946.4(SPAST):c.1496G>A (p.Arg499His)	rs878854991
NM_015100.4(POGZ):c.3456_3457del (p.Glu1154fs)	rs869320764
NM_015178.3(RHOBTB2):c.1382G>A (p.Arg461His)	rs1554504663
NM_015178.3(RHOBTB2):c.1465C>T (p.Arg489Trp)	rs1554504681
NM_015365.3(AMMECR1):c.805C>T (p.Gln269Ter)	rs750022919
NM_015488.5(PNKD):c.20C>T (p.Ala7Val)	rs121434512
NM_015559.3(SETBP1):c.2602G>C (p.Asp868His)	rs267607042
NM_015909.4(NBAS):c.6840G>A (p.Thr2280=)	rs776597537
NM_015915.5(ATL1):c.1306A>G (p.Asn436Asp)	rs2140239163
NM_015915.5(ATL1):c.458G>C (p.Ser153Thr)	rs2504493603
NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg)	rs1131692228
NM_016239.4(MYO15A):c.10247CCT[1] (p.Ser3417del)	rs760069953
NM_016239.4(MYO15A):c.1137del (p.Tyr380fs)	rs769260536
NM_016628.5(WAC):c.302C>G (p.Ser101Ter)
NM_017446.4(MRPL39):c.526del (p.Ser176fs)	rs746607851
NM_017613.4(DONSON):c.1466A>C (p.Lys489Thr)	rs146664036
NM_017613.4(DONSON):c.876C>G (p.Phe292Leu)	rs779803447
NM_017662.5(TRPM6):c.4710G>A (p.Trp1570Ter)	rs2118838012
NM_017780.4(CHD7):c.5050+5G>T	rs2487971762
NM_017780.4(CHD7):c.6079C>T (p.Arg2027Ter)	rs886040995
NM_017934.7(PHIP):c.1541A>G (p.His514Arg)	rs2482078406
NM_017934.7(PHIP):c.2854C>T (p.Arg952Ter)	rs754764007
NM_018105.3(THAP1):c.85C>T (p.Arg29Ter)	rs2128918641
NM_018129.4(PNPO):c.481C>T (p.Arg161Cys)	rs146027425
NM_018136.5(ASPM):c.8506_8507del (p.Gln2836fs)	rs587783280
NM_018161.5(NADSYN1):c.524G>A (p.Cys175Tyr)	rs764123669
NM_018238.4(AGK):c.424-3C>G	rs766413410
NM_018344.6(SLC29A3):c.1350_1354del (p.Val451fs)	rs1847094674
NM_018684.4(ZC4H2):c.592C>T (p.Arg198Trp)	rs137962226
NM_019066.5(MAGEL2):c.2057G>A (p.Trp686Ter)	rs768844200
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp)	rs886039763
NM_019597.5(HNRNPH2):c.617G>A (p.Arg206Gln)	rs886039764
NM_019616.4(F7):c.1325del (p.Pro442fs)	rs750457207
NM_020166.5(MCCC1):c.280G>A (p.Glu94Lys)	rs1717925328
NM_020297.4(ABCC9):c.4512+744_4512+746delinsAAAT	rs869025349
NM_020433.5(JPH2):c.505G>A (p.Glu169Lys)	rs2072600840
NM_020458.4(TTC7A):c.563G>A (p.Arg188His)	rs147471840
NM_020549.5(CHAT):c.1359_1363del (p.Cys453_Glu455delinsTer)	rs2538860938
NM_020699.4(GATAD2B):c.1241G>A (p.Arg414Gln)	rs1057521041
NM_020699.4(GATAD2B):c.1438C>T (p.Gln480Ter)	rs1674313030
NM_020719.3(PRR12):c.5909T>C (p.Leu1970Pro)	rs2122390232
NM_020832.3(ZNF687):c.2810C>G (p.Pro937Arg)	rs148402804
NM_020988.3(GNAO1):c.470T>C (p.Leu157Pro)	rs2143660403
NM_020988.3(GNAO1):c.724-8G>A	rs1085307876
NM_021008.4(DEAF1):c.680G>T (p.Cys227Phe)
NM_021095.4(SLC5A6):c.1285A>G (p.Ser429Gly)	rs2147992303
NM_021095.4(SLC5A6):c.393+2T>C	rs1274201044
NM_021828.5(HPSE2):c.1320+5G>A
NM_021954.4(GJA3):c.559C>T (p.Pro187Ser)	rs2141138001
NM_021964.3(ZNF148):c.1624C>T (p.Gln542Ter)	rs2107831036
NM_022114.4(PRDM16):c.3271C>T (p.Arg1091Ter)	rs2523952171
NM_022124.6(CDH23):c.6238G>C (p.Glu2080Gln)
NM_022455.5(NSD1):c.3922-9T>A	rs2480589655
NM_022455.5(NSD1):c.4378+3_4378+6del	rs1562251194
NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln)	rs587784177
NM_022489.4(INF2):c.529C>T (p.Arg177Cys)	rs1595166085
NM_022726.4(ELOVL4):c.698C>T (p.Thr233Met)	rs1554162016
NM_022834.5(VWA1):c.462del (p.Met155fs)	rs760281341
NM_023110.3(FGFR1):c.1977+1G>A	rs876661334
NM_023110.3(FGFR1):c.760C>T (p.Arg254Trp)	rs2150825999
NM_024298.5(MBOAT7):c.680_690dup (p.Leu231fs)	rs1264222654
NM_024496.4(IRF2BPL):c.1489C>T (p.Gln497Ter)	rs2140377628
NM_024537.4(CARS2):c.323T>G (p.Phe108Cys)	rs201577762
NM_024665.7(TBL1XR1):c.970T>G (p.Ser324Ala)	rs2108437312
NM_024675.4(PALB2):c.3350+4A>G	rs180177136
NM_024685.4(BBS10):c.1091del (p.Asn364fs)	rs727503818
NM_024685.4(BBS10):c.1337_1338del (p.Phe446fs)	rs1389599028
NM_024757.5(EHMT1):c.2426C>T (p.Pro809Leu)	rs587780332
NM_025137.4(SPG11):c.5989_5992del (p.Leu1997fs)	rs312262776
NM_025137.4(SPG11):c.6204A>G (p.Thr2068=)	rs2082470151
NM_025137.4(SPG11):c.6754+2_6754+3dup	rs759090170
NM_025144.4(ALPK1):c.710C>T (p.Thr237Met)	rs1052954321
NM_025233.7(COASY):c.215A>G (p.Tyr72Cys)	rs1435541208
NM_030632.3(ASXL3):c.5467C>T (p.Arg1823Ter)	rs2145432318
NM_030653.4(DDX11):c.1591C>T (p.Gln531Ter)
NM_030653.4(DDX11):c.788G>A (p.Arg263Gln)	rs201968272
NM_031307.4(PUS3):c.366_367del (p.Ala123fs)	rs1944570170
NM_031844.3(HNRNPU):c.421G>A (p.Gly141Arg)	rs2527895152
NM_031844.3(HNRNPU):c.651_660del (p.Gly218fs)	rs779453109
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp)	rs78635798
NM_032271.3(TRAF7):c.1570C>T (p.Arg524Trp)	rs2093132159
NM_032588.4(TRIM63):c.739C>T (p.Gln247Ter)	rs148395034
NM_032656.4(DHX37):c.1000C>T (p.Arg334Trp)
NM_033109.5(PNPT1):c.2014-3C>G	rs748445058
NM_033380.3(COL4A5):c.1001G>A (p.Gly334Asp)	rs104886093
NM_033380.3(COL4A5):c.1225G>A (p.Gly409Ser)	rs2066425550
NM_033380.3(COL4A5):c.1525G>C (p.Gly509Arg)	rs754223700
NM_033380.3(COL4A5):c.1690G>T (p.Gly564Cys)	rs281874674
NM_033380.3(COL4A5):c.1808G>A (p.Gly603Asp)	rs104886133
NM_033380.3(COL4A5):c.2023G>A (p.Gly675Ser)	rs104886157
NM_033380.3(COL4A5):c.2465G>T (p.Gly822Val)	rs1291655627
NM_033380.3(COL4A5):c.2473G>A (p.Gly825Arg)	rs281874692
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg)	rs104886189
NM_033380.3(COL4A5):c.358G>A (p.Gly120Ser)	rs2524196968
NM_033380.3(COL4A5):c.3853G>A (p.Gly1285Ser)	rs764755602
NM_033380.3(COL4A5):c.4783G>T (p.Gly1595Ter)	rs2524652341
NM_033380.3(COL4A5):c.4808A>G (p.Tyr1603Cys)	rs104886298
NM_033380.3(COL4A5):c.4912T>C (p.Cys1638Arg)	rs281874750
NM_033380.3(COL4A5):c.4931G>A (p.Cys1644Tyr)	rs104886302
NM_033380.3(COL4A5):c.919G>A (p.Gly307Ser)	rs2147777425
NM_033419.5(PGAP3):c.557G>C (p.Arg186Thr)	rs2145100763
NM_052813.5(CARD9):c.1434+1G>C	rs141992399
NM_052867.4(NALCN):c.3553G>A (p.Ala1185Thr)	rs2139519168
NM_052867.4(NALCN):c.518G>A (p.Arg173Gln)	rs2548588794
NM_052867.4(NALCN):c.965T>C (p.Ile322Thr)	rs1057519433
NM_053274.3(GLMN):c.157_161del (p.Glu52_Lys53insTer)	rs762515373
NM_078480.3(PUF60):c.1471G>A (p.Gly491Arg)	rs1816336903
NM_078629.4(MSL3):c.1466+1G>A	rs1601774648
NM_080605.4(B3GALT6):c.766C>T (p.Arg256Trp)	rs1638566519
NM_130837.3(OPA1):c.2873_2876del	rs80356530
NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs)	rs587784527
NM_133433.4(NIPBL):c.7012G>C (p.Ala2338Pro)	rs587784030
NM_133433.4(NIPBL):c.7168G>A (p.Ala2390Thr)	rs587784036
NM_134261.3(RORA):c.1385G>A (p.Arg462Gln)	rs1433850094
NM_138295.5(PKD1L1):c.6473+2_6473+3del	rs528302390
NM_138383.3(MTSS2):c.2011C>T (p.Arg671Trp)	rs753688777
NM_138694.4(PKHD1):c.10109dup (p.Phe3371fs)	rs1057517071
NM_138694.4(PKHD1):c.10315G>T (p.Asp3439Tyr)	rs778711731
NM_138694.4(PKHD1):c.1397G>C (p.Gly466Ala)	rs750730042
NM_138694.4(PKHD1):c.1602+1G>A	rs398124476
NM_138694.4(PKHD1):c.2192C>A (p.Ser731Ter)	rs1057516608
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp)	rs370277502
NM_138694.4(PKHD1):c.4220T>G (p.Leu1407Arg)	rs1464962854
NM_138694.4(PKHD1):c.528-2A>G	rs2533607755
NM_138694.4(PKHD1):c.6332+2T>A	rs1783090781
NM_138694.4(PKHD1):c.847T>C (p.Phe283Leu)	rs375145340
NM_138694.4(PKHD1):c.9719G>T (p.Arg3240Leu)	rs146649803
NM_138927.4(SON):c.3852_3856del (p.Met1284fs)	rs1114167303
NM_139027.6(ADAMTS13):c.725G>A (p.Cys242Tyr)	rs2491101006
NM_139137.4(KCNC2):c.1408C>T (p.Pro470Ser)	rs1881066861
NM_144573.4(NEXN):c.1946GAG[1] (p.Gly650del)	rs397517853
NM_144672.4(OTOA):c.828del (p.Ser277fs)	rs751447996
NM_144687.4(NLRP12):c.2056_2057dup (p.Leu687fs)	rs1327772058
NM_144773.4(PROKR2):c.254G>A (p.Arg85His)	rs74315418
NM_144773.4(PROKR2):c.58del (p.His20fs)	rs587777834
NM_145207.3(AFG2A):c.1A>C (p.Met1Leu)	rs552219028
NM_145207.3(AFG2A):c.983CAA[2] (p.Thr330del)	rs796052243
NM_145331.3(MAP3K7):c.631G>A (p.Asp211Asn)	rs2481822388
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys)	rs1064797245
NM_152328.5(ADSS1):c.741dup (p.Lys248fs)	rs769542442
NM_152515.5(CKAP2L):c.501del (p.Asn167fs)	rs2104884982
NM_152558.5(IQCE):c.895_904del (p.Val301fs)	rs773701437
NM_152564.5(VPS13B):c.2158C>T (p.Gln720Ter)	rs777593389
NM_152594.3(SPRED1):c.796_797del (p.Met266fs)	rs864622410
NM_153033.5(KCTD7):c.793G>A (p.Gly265Arg)	rs200415747
NM_153676.4(USH1C):c.388-1G>A	rs1364331716
NM_170606.3(KMT2C):c.7825C>T (p.Arg2609Ter)	rs2129115127
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp)	rs58932704
NM_170707.4(LMNA):c.569G>A (p.Arg190Gln)	rs267607571
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp)	rs773171451
NM_172107.4(KCNQ2):c.740C>T (p.Ser247Leu)	rs74315392
NM_172107.4(KCNQ2):c.949G>A (p.Ala317Thr)	rs1600751236
NM_176787.5(PIGN):c.130AGA[1] (p.Arg45del)	rs1568244811
NM_177438.3(DICER1):c.745C>T (p.Gln249Ter)	rs886037732
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg)	rs869312840
NM_178170.3(NEK8):c.133C>T (p.Arg45Trp)	rs1567759130
NM_181486.4(TBX5):c.668C>T (p.Thr223Met)	rs1555225344
NM_182925.5(FLT4):c.3121C>T (p.Arg1041Trp)	rs1451816005
NM_182925.5(FLT4):c.952C>T (p.Arg318Ter)	rs146006663
NM_182931.3(KMT2E):c.1776_1780del (p.Lys593fs)	rs1562927768
NM_182931.3(KMT2E):c.4829dup (p.Leu1610fs)	rs1243172283
NM_183357.3(ADCY5):c.1252C>T (p.Arg418Trp)	rs864309483
NM_194454.3(KRIT1):c.1561C>T (p.Gln521Ter)	rs2131435199
NM_198253.3(TERT):c.2273C>T (p.Ala758Val)	rs2478267478
NM_198565.3(NRROS):c.1981del (p.Leu661fs)	rs1737685202
NM_198569.3(ADGRG6):c.2306T>A (p.Val769Glu)	rs793888525
NM_198880.3(QRICH1):c.2216G>A (p.Trp739Ter)	rs2106802170
NM_198904.4(GABRG2):c.373C>T (p.Arg125Cys)	rs2113325423
NM_199242.3(UNC13D):c.810C>A (p.Tyr270Ter)
NM_201525.4(ADGRG1):c.407T>A (p.Leu136Ter)	rs763238723
NM_201548.5(CERKL):c.316C>A (p.Arg106Ser)	rs569826109
NM_201631.4(TGM5):c.255del (p.Ser86fs)	rs778322388
NM_206933.2(USH2A):c.850_853del	rs1188025733
NM_206933.4(USH2A):c.12300C>A (p.Tyr4100Ter)	rs1657997730
NM_206933.4(USH2A):c.14180G>A (p.Trp4727Ter)	rs397517989
NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn)	rs483353055
NM_206933.4(USH2A):c.820C>G (p.Arg274Gly)	rs397518036
NM_207037.2(TCF12):c.1808G>A (p.Arg603Gln)	rs1349009265
NM_207037.2(TCF12):c.268C>T (p.Arg90Ter)	rs747222651
NM_212482.4(FN1):c.367T>C (p.Cys123Arg)	rs1553667072
NM_213599.3(ANO5):c.191dup (p.Asn64fs)	rs137854521
NM_213653.4(HJV):c.950G>A (p.Cys317Tyr)	rs1553769457
NR_003137.3(RNU4-2):n.69C>T
NR_023343.3(RNU4ATAC):n.50G>A	rs181195449
NR_023343.3(RNU4ATAC):n.53C>G	rs180755563