Variants from Natera, Inc. with conflicting interpretations

Minimum review status of the submission from Natera, Inc.:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Natera, Inc.:	clinical testing curation literature only research other
Minimum review status of the other submission:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the other submission:	clinical testing curation literature only research other
Minimum conflict level: confidence conflict (e.g. benign vs likely benign) benign or likely benign vs uncertain conflict category conflict (e.g. benign vs affects) clinically significant conflict (e.g. benign vs pathogenic) Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
36705	17936	3	8281	5360	3	1816	14427

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
Natera, Inc.		pathogenic	likely pathogenic	uncertain significance	likely benign	benign	other
	pathogenic	0	2753	198	6	0	0
	likely pathogenic	3910	0	986	16	5	0
	uncertain significance	237	412	3	3521	375	1
	likely benign	16	15	1118	0	736	0
	benign	22	23	409	882	0	2

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	15086	0	3624	3632	3	504	7763
Counsyl	0	2012	0	1364	70	0	478	1912
Illumina Laboratory Services, Illumina	0	3050	0	551	1187	0	42	1780
Baylor Genetics	0	3924	0	829	22	0	81	932
Fulgent Genetics, Fulgent Genetics	0	4124	0	662	116	0	108	886
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	2828	0	660	18	0	91	769
Genome-Nilou Lab	0	2923	0	511	201	0	54	766
Revvity Omics, Revvity	0	1240	0	244	55	0	54	353
OMIM	0	876	0	283	7	0	25	315
Myriad Genetics, Inc.	0	581	0	171	9	0	44	224
Mendelics	0	424	0	153	42	0	24	219
Ambry Genetics	0	500	0	55	135	0	8	198
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	576	0	111	43	0	29	183
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	341	0	89	11	0	51	151
3billion	0	553	0	102	15	0	32	149
Color Diagnostics, LLC DBA Color Health	0	416	0	60	54	0	26	140
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	268	0	83	10	0	40	133
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	416	0	94	4	0	28	126
All of Us Research Program, National Institutes of Health	0	368	0	52	38	0	24	114
LDLR-LOVD, British Heart Foundation	0	117	0	72	17	0	25	114
Department of Pathology and Laboratory Medicine, Sinai Health System	0	318	0	51	37	0	21	109
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)	0	75	0	100	0	0	8	108
Neuberg Centre For Genomic Medicine, NCGM	0	281	0	68	3	0	27	98
GeneDx	0	266	0	52	21	0	14	87
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum	0	80	0	52	3	0	30	85
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	259	0	71	0	0	2	73
PreventionGenetics, part of Exact Sciences	0	221	0	35	28	0	10	73
Genetic Services Laboratory, University of Chicago	0	117	0	47	17	0	8	72
Institute of Human Genetics, University of Leipzig Medical Center	0	193	0	42	12	0	14	68
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix	0	38	0	37	4	0	24	65
Clinical Biochemistry Laboratory, Health Services Laboratory	0	77	0	39	17	0	2	58
ClinGen PAH Variant Curation Expert Panel	0	171	0	44	2	0	10	56
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine	0	79	0	34	4	0	17	55
Leiden Open Variation Database	0	68	0	24	5	0	23	52
Genomenon, Inc, Genomenon, Inc	0	130	0	37	2	0	11	50
Robarts Research Institute, Western University	0	27	0	41	2	0	6	49
Juno Genomics, Hangzhou Juno Genomics, Inc	0	237	0	43	1	0	4	48
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova	0	30	0	21	1	0	25	47
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel	0	237	0	25	7	0	14	46
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	87	0	26	7	0	13	46
MGZ Medical Genetics Center	0	125	0	36	3	0	7	46
ClinGen ACADVL Variant Curation Expert Panel, ClinGen	0	69	0	31	5	0	8	44
Variantyx, Inc.	0	175	0	35	0	0	7	42
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel	0	106	0	22	8	0	11	41
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	183	0	35	6	0	0	41
First Genomix Gene Laboratory, Genetic Diagnostics Department	0	135	0	33	0	0	8	41
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	0	192	0	31	3	0	7	41
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	91	0	30	5	0	4	39
Fundacion Hipercolesterolemia Familiar	0	33	0	17	5	0	15	37
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation	0	25	0	28	2	0	7	37
CeGaT Center for Human Genetics Tuebingen	0	64	0	20	13	0	2	35
Sema4, Sema4	0	124	0	20	15	0	0	35
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	92	0	24	8	0	2	34
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	93	0	26	0	0	8	34
Laboratory of Genetics and Molecular Cardiology, University of São Paulo	0	31	0	13	11	0	10	34
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	0	13	0	14	13	0	7	34
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge	0	42	0	15	7	0	8	30
New York Genome Center	0	96	0	7	15	0	8	30
SIB Swiss Institute of Bioinformatics	0	32	0	25	3	0	1	29
PROSPAX: an integrated multimodal progression chart in spastic ataxias, Center for Neurology; Hertie-Institute for Clinical Brain Research	0	26	0	15	0	0	13	28
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille	0	60	0	17	0	0	11	28
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	35	0	9	18	0	0	27
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	75	0	26	1	0	0	27
SingHealth Duke-NUS Institute of Precision Medicine	0	14	0	19	3	0	5	27
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics	0	84	0	23	0	0	4	27
Eurofins Ntd Llc (ga)	0	96	0	11	10	0	5	26
Johns Hopkins Genomics, Johns Hopkins University	0	71	0	10	14	0	2	26
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	62	0	23	0	0	3	26
Iberoamerican FH Network	0	20	0	12	3	0	10	25
Breakthrough Genomics, Breakthrough Genomics	0	70	0	16	8	0	0	24
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia	0	36	0	14	1	0	9	24
Genetics and Molecular Pathology, SA Pathology	0	84	0	23	1	0	0	24
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	106	0	22	0	0	1	23
Mayo Clinic Laboratories, Mayo Clinic	0	85	0	14	6	0	3	23
CENTOGENE GmbH and LLC - Guiding Precision Medicine	0	76	0	15	2	0	5	22
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	0	19	3	4	11	0	3	21
Department of Human Genetics, Hannover Medical School	0	55	0	17	0	0	4	21
KCCC/NGS Laboratory, Kuwait Cancer Control Center	0	64	0	19	2	0	0	21
Pars Genome Lab	0	101	0	12	8	0	1	21
Yale Center for Mendelian Genomics, Yale University	0	11	0	19	0	0	2	21
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	38	0	13	0	0	7	20
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub	0	36	0	16	0	0	4	20
Genome Diagnostics Laboratory, Amsterdam University Medical Center	0	38	0	18	2	0	0	20
Institute of Human Genetics Munich, TUM University Hospital	0	85	0	17	0	0	2	19
Knight Diagnostic Laboratories, Oregon Health and Sciences University	0	44	0	15	0	0	4	19
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	0	83	0	16	0	0	3	19
Ocular Genomics Institute, Massachusetts Eye and Ear	0	30	0	13	0	0	5	18
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	0	157	0	8	9	0	1	18
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital	0	37	0	12	3	0	2	17
Dubai Health Genomic Medicine Center, Dubai Health	0	53	0	13	2	0	2	17
GENinCode PLC	0	47	0	14	3	0	0	17
CFTR-France	0	16	0	13	0	0	3	16
Dasa	0	68	0	14	0	0	2	16
Giacomini Lab, University of California, San Francisco	0	36	0	7	2	0	7	16
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	0	25	0	10	1	0	4	15
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen	0	65	0	8	4	0	3	15
Division of Human Genetics, Children's Hospital of Philadelphia	0	38	0	11	2	0	2	15
Genomics England Pilot Project, Genomics England	0	23	0	14	1	0	0	15
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine	0	53	0	15	0	0	0	15
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital	0	23	0	14	0	0	1	15
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	106	0	10	0	0	5	15
Lildballe Lab, Aarhus University Hospital	0	23	0	9	0	0	6	15
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota	0	33	0	14	0	0	1	15
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence,	0	4	0	5	0	0	10	15
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	0	40	0	6	3	0	5	14
Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, Mayo Clinic	0	26	0	12	1	0	1	14
ClinVar Staff, National Center for Biotechnology Information (NCBI)	0	20	0	0	0	0	13	13
Elsea Laboratory, Baylor College of Medicine	0	9	0	3	8	0	2	13
GeneReviews	0	623	0	11	0	0	2	13
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam	0	11	0	10	0	0	3	13
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare	0	23	0	11	0	0	2	13
Kariminejad - Najmabadi Pathology & Genetics Center	0	37	0	10	1	0	2	13
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II	0	22	0	13	0	0	0	13
Molecular Biology Laboratory, Fundació Puigvert	0	12	0	12	0	0	1	13
Suma Genomics	0	16	0	8	0	0	5	13
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill	0	48	0	12	1	0	0	13
ATS em Genética Clínica, Universidade Federal do Rio Grande do Sul	0	9	0	11	0	0	1	12
Centre for Inherited Metabolic Diseases, Karolinska University Hospital	0	27	0	12	0	0	0	12
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	30	0	11	0	0	1	12
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	0	34	0	9	0	0	3	12
JKU Lab, Dept of Paediatrics, Johannes Kepler University	0	25	0	8	1	0	3	12
OLLIN Analises Genomicas, OLLIN	0	24	0	8	0	0	4	12
Solve-RD Consortium	0	3	0	11	0	0	1	12
Athena Diagnostics	0	111	0	8	0	0	3	11
Cardiovascular Biomarker Research Laboratory, Mayo Clinic	0	7	0	4	6	0	1	11
Molecular Genetics, Royal Melbourne Hospital	0	58	0	10	0	0	1	11
Sharon lab, Hadassah-Hebrew University Medical Center	0	25	0	9	0	0	2	11
University Children's Hospital, University of Zurich	0	5	0	11	0	0	0	11
CSER _CC_NCGL, University of Washington	0	5	0	2	4	0	4	10
ClinGen Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel, ClinGen	0	36	0	5	4	0	1	10
Genome Diagnostics Laboratory, The Hospital for Sick Children	0	64	0	7	2	0	1	10
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service	0	46	0	6	1	0	2	9
Clinical Genetics Laboratory, Skane University Hospital Lund	0	23	0	8	0	0	1	9
Daryl Scott Lab, Baylor College of Medicine	0	24	0	5	1	0	3	9
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine	0	3	0	5	1	0	3	9
Laboratory of Prof. Karen Avraham, Tel Aviv University	0	7	0	2	0	0	7	9
Pediatric Immunology Service, The Chaim Sheba Medical Center at Tel HaShomer	0	4	0	1	2	0	6	9
ClinGen Hearing Loss Variant Curation Expert Panel	0	18	0	4	1	0	3	8
European Hospital Georges Pompidou Genetics Department, Assistance Publique - Hôpitaux de Paris AP-HP	0	35	0	7	1	0	0	8
Hadassah Hebrew University Medical Center	0	22	0	6	0	0	2	8
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	0	23	0	6	1	0	1	8
Lifecell International Pvt. Ltd	0	25	0	7	0	0	1	8
NIHR Bioresource Rare Diseases, University of Cambridge	0	10	0	7	0	0	1	8
Department of Genetics, Sultan Qaboos University Hospital	0	25	0	7	0	0	0	7
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS	0	9	0	7	0	0	0	7
Institute for Integrative and Experimental Genomics, University of Luebeck	0	1	0	4	0	0	3	7
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	0	48	0	7	0	0	0	7
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics	0	6	0	4	1	0	2	7
Molecular Diagnostics Lab, Nemours Children's Health, Delaware	0	11	0	6	0	0	1	7
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals	0	34	0	3	3	0	1	7
Sydney Genome Diagnostics, Children's Hospital Westmead	0	10	0	5	1	0	1	7
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	0	21	0	2	3	0	2	7
Center of Genomic medicine, Geneva, University Hospital of Geneva	0	16	0	6	0	0	0	6
Chinese Inherited Urolithiasis Consortium, The Affiliated Yantai Yuhuangding Hospital of Qingdao University	0	26	0	2	0	0	4	6
ClinGen Coagulation Factor Deficiency Variant Curation Expert Panel, Clingen	0	9	0	5	0	0	1	6
Clinical Genetics, Academic Medical Center	0	7	0	2	4	0	0	6
Clinical Genomics Laboratory, Stanford Medicine	0	35	0	1	4	0	1	6
Department of Pediatrics, Gifu University	0	31	0	3	0	0	3	6
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital	0	17	0	4	1	0	1	6
Reproductive Health Research and Development, BGI Genomics	0	27	0	6	0	0	0	6
Baumgartner lab, University Children's Hospital Zurich	0	11	0	5	0	0	0	5
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital	0	11	0	4	0	0	1	5
Center for Molecular Medicine, Children’s Hospital of Fudan University	0	10	0	5	0	0	0	5
Clinical Genomics Laboratory, Washington University in St. Louis	0	27	0	2	3	0	0	5
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	0	9	0	4	0	0	1	5
Department of Human Genetics, Laborarztpraxis Dres. Walther, Weindel und Kollegen	0	14	0	4	1	0	0	5
Inherited Neuropathy Consortium	0	5	0	0	0	0	5	5
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin	0	7	0	4	0	0	1	5
Institute of Immunology and Genetics Kaiserslautern	0	21	0	3	1	0	1	5
Laboratory of Experimental Gene Therapy of Hereditary Metabolic Diseases, Research Centre for Medical Genetics	0	21	0	3	1	0	1	5
Laboratory of Molecular Genetics, Children's Memorial Health Institute	0	7	0	5	0	0	0	5
Medical and Scientific Branch, Hong Kong Genome Institute	0	22	0	4	0	0	1	5
Amrita Institute of Medical Sciences and Research Centre, Amrita Vishwa Vidyapeetham	0	2	0	2	0	0	2	4
Arcensus	0	10	0	4	0	0	0	4
Biomedical Innovation Departament, CIEMAT	0	32	0	4	0	0	0	4
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	0	10	0	2	2	0	0	4
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals	0	20	0	3	0	0	1	4
ClinGen X-linked Inherited Retinal Disease Variant Curation Expert Panel, ClinGen	0	10	0	1	1	0	2	4
Department of Genetics of Metabolic Diseases, Institute of Medical & Molecular Genetics, Hospital Universitario Hospital La Paz	0	16	0	3	0	0	1	4
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital	0	10	0	3	1	0	0	4
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino"	0	18	0	4	0	0	0	4
Inherited Neuropathy Consortium Ii, University Of Miami	0	0	0	0	0	0	4	4
Laboratorio de Biologia Molecular/Medicina Genomica - IFF/Fiocruz, Instituto Fernandes Figueira, Fundacao Oswaldo Cruz	0	3	0	4	0	0	0	4
Molecular Pathology, Peter Maccallum Cancer Centre	0	48	0	3	0	0	1	4
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health	0	15	0	3	1	0	0	4
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust	0	27	0	4	0	0	0	4
Otogenetics	0	40	0	4	0	0	0	4
Pathology and Clinical Laboratory Medicine, King Fahad Medical City	0	9	0	3	0	0	1	4
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center	0	17	0	4	0	0	0	4
Section for Clinical Neurogenetics, University of Tübingen	0	3	0	4	0	0	0	4
Service de Génétique Moléculaire, Hôpital Robert Debré	0	3	0	2	0	0	2	4
UCLA Clinical Genomics Center, UCLA	0	1	0	4	0	0	0	4
Undiagnosed Diseases Network, NIH	0	14	0	2	0	0	2	4
Albrecht-Kossel-Institute, Medical University Rostock	0	3	0	0	1	0	2	3
Biochemical Genetics Department, Cyprus Institute of Neurology and Genetics	0	1	0	2	0	0	1	3
Centre for Human Genetics	0	4	0	3	0	0	0	3
Clinical Omics and Informatics (COIN) Unit, Neuroscience Institute, University Of Cape Town	0	2	0	2	0	0	1	3
DBGen Ocular Genomics	0	7	0	3	0	0	0	3
Department of Molecular Genetics, Istishari Arab Hospital	0	13	0	2	0	0	1	3
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology	0	2	0	0	0	0	3	3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	0	1	0	3	0	0	0	3
Genomic Medicine Lab, University of California San Francisco	0	8	0	1	0	0	2	3
Hereditary Research Laboratory, Bethlehem University	0	3	0	3	0	0	0	3
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	0	3	0	1	1	0	1	3
Institute of Human Genetics, University Hospital of Duesseldorf	0	10	0	2	1	0	0	3
Intergen Genetics and Rare Diseases Diagnosis Center	0	14	0	3	0	0	0	3
Istanbul Faculty of Medicine, Istanbul University	0	0	0	2	0	0	1	3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	0	3	0	2	0	0	1	3
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital	0	4	0	3	0	0	0	3
Molecular Genetics Lab, CHRU Brest	0	2	0	1	1	0	1	3
Molecular Genetics Laboratory, Institute for Ophthalmic Research	0	5	0	2	0	0	1	3
National Institute of Mental Health and Neurosciences	0	1	0	1	0	0	2	3
Phosphorus, Inc.	0	22	0	1	2	0	0	3
Rare Diseases Genetics and Genomics, Islamia College Peshawar	0	0	0	3	0	0	0	3
SNPedia	0	1	0	3	0	0	0	3
Siriraj Ophthalmic Genetics Research, Faculty of Medicine Siriraj Hospital, Mahidol University	0	0	0	1	0	0	2	3
Translational Research Program on Neuronal Ceroid Lipofuscinosis, Center for the Study of Inborn Errors of Metabolism	0	1	0	3	0	0	0	3
UW Hindbrain Malformation Research Program, University of Washington	0	2	0	2	0	0	1	3
Biochemistry Laboratory of CDMU, Chengde Medical University	0	4	0	1	0	0	1	2
Blueprint Genetics	0	6	0	1	0	0	1	2
CFTR2	0	11	0	0	2	0	0	2
Cellular and Molecular Medicine Research Institute, Urmia University of Medical Sciences	0	5	0	1	0	0	1	2
Centre for Medical Genetics, Mumbai	0	0	0	0	2	0	0	2
Centre of Medical Genetics, University Hospital Muenster	0	15	0	1	0	0	1	2
Child Health and Human Development Program, Research Institute of the McGill University Health Center	0	5	0	1	0	0	1	2
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada	0	3	0	2	0	0	0	2
Clinical Genetics Laboratory, Region Ostergotland	0	3	0	2	0	0	0	2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)	0	10	0	2	0	0	0	2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital	0	1	0	1	1	0	0	2
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences	0	5	0	2	0	0	0	2
Dr.Nikuei Genetic Center	0	3	0	1	1	0	0	2
Ege University Pediatric Genetics, Ege University	0	0	0	0	0	0	2	2
GeneID Lab - Advanced Molecular Diagnostics	0	4	0	1	0	0	1	2
Genetics Department, Hospital Ramon y Cajal-IRYCIS	0	1	0	1	0	0	1	2
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University	0	7	0	2	0	0	0	2
Gharavi Laboratory, Columbia University	0	3	0	1	0	0	1	2
Inheritance Genetic Center	0	0	0	2	0	0	0	2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	0	0	0	0	1	0	1	2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn	0	19	0	0	0	0	2	2
Institute of Human Genetics, Cologne University	0	8	0	2	0	0	0	2
Institute of Human Genetics, Heidelberg University	0	16	0	1	0	0	1	2
Institute of Human Genetics, University of Goettingen	0	0	0	1	0	0	1	2
Kids Neuroscience Centre, Sydney Children's Hospitals Network	0	3	0	0	1	0	1	2
Lab De Baere, Eye and Developmental Genetics Lab, Ghent University	0	3	0	2	0	0	0	2
Laboratoire de Génétique Moléculaire, CHU Bordeaux	0	6	0	2	0	0	0	2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	0	4	0	2	0	0	0	2
Laboratory of Human Genetics, Universidade de São Paulo	0	0	0	1	0	0	1	2
Laboratory of Metabolic Disorders, Peking University First Hospital	0	3	0	1	1	0	0	2
Laboratory of Molecular, Cellular and Translation Genetics in Otolaryngology/ Lim32-hcfmusp, University of Sao Paulo School of Medicine Clinics Hospital	0	3	0	1	0	0	1	2
Laboratory of Research in Genomics, Genetics and Bioinformatics, Hospital Infantil de Mexico Federico Gomez	0	2	0	2	0	0	0	2
MVZ Martinsried, Medicover Genetics	0	2	0	1	0	0	1	2
Medical Genetic Diagnosis and Therapy Center, Fujian Medical University	0	4	0	2	0	0	0	2
Medical Genetics, University of Parma	0	2	0	0	1	0	1	2
Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre	0	1	0	2	0	0	0	2
Medical Molecular Genetics Department, National Research Center	0	5	0	2	0	0	0	2
Molecular Genetics Laboratory; Baylor College of Medicine	0	0	0	0	1	0	1	2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris	0	6	0	0	0	0	2	2
Neurology Department, Peking University First Hospital	0	6	0	0	1	0	1	2
Next Generation Genetic Polyclinic	0	3	0	2	0	0	0	2
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel	0	6	0	2	0	0	0	2
Paris Brain Institute, Inserm - ICM	0	3	0	2	0	0	0	2
Pediatric Department, Xiangya Hospital, Central South University	0	1	0	1	0	0	1	2
Pediatric Metabolic Diseases, Hacettepe University	0	5	0	2	0	0	0	2
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital	0	1	0	1	0	0	1	2
The Core Laboratory in Medical Center of Clinical Research, Shanghai Ninth People's Hospital, Shanghai Jiaotong University School of Medicine	0	3	0	1	0	0	1	2
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health	0	0	0	2	0	0	0	2
AiLife Diagnostics, AiLife Diagnostics	0	1	0	0	0	0	1	1
Alexion, Astrazeneca Rare Disease, Astrazeneca	0	7	0	1	0	0	0	1
Biochemistry Department, Nishtar Medical University	0	1	0	1	0	0	0	1
Bioinformatics Unit, Institut Pasteur de Montevideo	0	0	0	0	0	0	1	1
Breda Genetics srl, Breda Genetics srl	0	2	0	1	0	0	0	1
Center for Genetic Medicine Research, Children's National Medical Center	0	0	0	1	0	0	0	1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	0	3	0	1	0	0	0	1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen	0	2	0	1	0	0	0	1
Center for Human Genetics, Inc, Center for Human Genetics, Inc	0	1	0	1	0	0	0	1
Center for Individualized Medicine, Mayo Clinic	0	1	0	1	0	0	0	1
Center for Precision Medicine, Vanderbilt University Medical Center	0	0	0	0	1	0	0	1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	0	1	0	1	0	0	0	1
Charité Universitätsmedizin Berlin, Charite Universitaetsmedizin Berlin	0	0	0	1	0	0	0	1
ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen	0	9	0	1	0	0	0	1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	0	20	0	1	0	0	0	1
Clinical Genetics Unit, University of Padua	0	1	0	0	0	0	1	1
Clinical Genetics, Amsterdam Medical Centre	0	0	0	0	1	0	0	1
Clinical Genetics, Synlab MVZ Humangenetik Freiburg	0	0	0	0	0	0	1	1
Clinical Genomics, G42 Labs	0	0	0	0	0	0	1	1
Clinical Laboratory, Heze Municipal Hospital	0	0	0	1	0	0	0	1
Core Molecular Diagnostic Lab, McGill University Health Centre	0	2	0	1	0	0	0	1
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics	0	1	0	1	0	0	0	1
Cytogenetics and Genomics Laboratory, Medical University of South Carolina	0	4	0	1	0	0	0	1
DNA-diagnostics Laboratory, Research Centre For Medical Genetics	0	2	0	0	0	0	1	1
Dan Cohn Lab, University Of California Los Angeles	0	0	0	0	0	0	1	1
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital	0	0	0	1	0	0	0	1
Deafness research group, Biosystems & Integrative Sciences Institute, University of Lisbon	0	0	0	0	1	0	0	1
Department Of Obstetrics And Gynecology, Genetic And Prenatal Diagnosis Center	0	0	0	1	0	0	0	1
Department of Biotechnology and Microbiology, Karnatak University Dharwad	0	0	0	0	0	0	1	1
Department of Clinical Genetics, Aarhus University Hospital	0	0	0	1	0	0	0	1
Department of Clinical Genetics, Medical University of Lodz	0	1	0	1	0	0	0	1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine	0	0	0	0	0	0	1	1
Department of Hematology, University of Health Sciences	0	0	0	1	0	0	0	1
Department of Human Genetics, University Hospital Bern, Inselspital	0	0	0	0	0	0	1	1
Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development	0	2	0	1	0	0	0	1
Department of Medical Genetics, College of Basic Medicine, Army Medical University	0	1	0	1	0	0	0	1
Department of Medical Genetics, Gazi University	0	0	0	1	0	0	0	1
Department of Medical Genomics, Royal Prince Alfred Hospital	0	0	0	1	0	0	0	1
Department of Molecular and Human Genetics, Baylor College of Medicine	0	2	0	1	0	0	0	1
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences	0	1	0	1	0	0	0	1
Department of Neurology, Zibo Changguo Hospital	0	1	0	1	0	0	0	1
Department of Ophthalmology and Visual Sciences Kyoto University	0	2	0	1	0	0	0	1
Department of Ophthalmology, Shanghai Jiao Tong University School of Medicine, Shanghai General Hospital	0	0	0	0	0	0	1	1
Department of Otolaryngology Head and Neck Surgery, Hainan Hospital of the Chinese People’s Liberation Army General Hospital	0	7	0	1	0	0	0	1
Department of Pathology and Genetics, University of Gothenburg	0	0	0	1	0	0	0	1
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University	0	1	0	1	0	0	0	1
Department of Pediatrics, Inner Mongolia Maternity and Child Health Care Hospital	0	0	0	1	0	0	0	1
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital	0	2	0	1	0	0	0	1
Department of Prenatal Diagnosis, Women’s Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital	0	0	0	1	0	0	0	1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea	0	12	0	1	0	0	0	1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital	0	6	0	1	0	0	0	1
Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust	0	0	0	0	0	0	1	1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University	0	3	0	1	0	0	0	1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center	0	3	0	1	0	0	0	1
Division of Medical Genetics, University of Washington	0	0	0	1	0	0	0	1
Division of Neurology, Stellenbosch University	0	1	0	0	0	0	1	1
Duke University Health System Sequencing Clinic, Duke University Health System	0	4	0	1	0	0	0	1
Endocrinology Clinic, Seth G.S. Medical College	0	0	0	1	0	0	0	1
Eurofins-Biomnis	0	4	0	1	0	0	0	1
FirmaLab, FirmaLab	0	2	0	0	0	0	1	1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System	0	4	0	1	0	0	0	1
GeneKor MSA	0	26	0	1	0	0	0	1
Genesis Genomics	0	0	0	1	0	0	0	1
Genetic Diseases Diagnostic Center, Koc University Hospital	0	0	0	1	0	0	0	1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli	0	0	0	1	0	0	0	1
Genomic Diagnostics Laboratory, National Institute of Medical Genomics	0	2	0	1	0	0	0	1
Genomics And Bioinformatics Analysis Resource, Columbia University	0	12	0	1	0	0	0	1
Guangxi Clinical Research Center for Birth Defects, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region	0	0	0	0	0	0	1	1
Human Genetics Bochum, Ruhr University Bochum	0	2	0	1	0	0	0	1
Human Genetics Research Lab, Central University of Jammu	0	0	0	1	0	0	0	1
Human Genetics Section, Sidra Medicine	0	1	0	0	0	0	1	1
IIFP, CONICET-UNLP	0	1	0	0	0	0	1	1
Inborn Errors of Metabolism Laboratory, Hospices Civils de Lyon	0	2	0	1	0	0	0	1
Institute for Genomic Medicine, Nationwide Children's Hospital	0	2	0	0	0	0	1	1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn	0	5	0	1	0	0	0	1
Institute of Genomics, University of Tartu	0	2	0	1	0	0	0	1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg	0	1	0	1	0	0	0	1
Institute of Human Genetics, University of Wuerzburg	0	0	0	0	1	0	0	1
Institute of Medical Molecular Genetics, University of Zurich	0	0	0	1	0	0	0	1
Institute of Rare Diseases, West China Hospital, Sichuan University	0	1	0	1	0	0	0	1
Integrating Genomics into Medicine, Frazer Institute, University Of Queensland	0	16	0	1	0	0	0	1
Jacobi Internal Medicine Residency Program, Jacobi Medical Center	0	0	0	1	0	0	0	1
Joe DiMaggio Children's Hospital, Memorial Healthcare System	0	0	0	0	0	0	1	1
King Laboratory, University of Washington	0	5	0	0	0	0	1	1
LIPIGEN - Lipid Transport Disorders Italian Genetic Network	0	7	0	1	0	0	0	1
Laboratoire Génétique Moléculaire, CHRU TOURS	0	5	0	1	0	0	0	1
Laboratory Cellgenetics, GMDL Cellgenetics	0	2	0	1	0	0	0	1
Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi	0	1	0	0	0	0	1	1
Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics	0	4	0	1	0	0	0	1
Laboratory of Genetics, Children's Clinical University Hospital Latvia	0	5	0	0	1	0	0	1
MVZ Dr. Eberhard & Partner Dortmund	0	0	0	0	0	0	1	1
McDonnell Genome Institute, Washington University in St. Louis	0	0	0	0	0	0	1	1
Medical Molecular Genetics, National Research Centre	0	3	0	1	0	0	0	1
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University	0	3	0	0	0	0	1	1
Molecular Genetics Diagnostic Laboratory, Detroit Medical Center University Laboratories	0	2	0	0	0	0	1	1
Molecular Genetics Laboratory, Motol Hospital	0	1	0	1	0	0	0	1
Molecular Lab, Department of Haematology, Christian Medical College	0	4	0	1	0	0	0	1
Morava/Kozicz Lab, Department of Clinical Genomics, Mayo Clinic	0	0	0	0	0	0	1	1
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire	0	2	0	0	0	0	1	1
National Institute on Deafness and Communication Disorders, National Institutes of Health	0	1	0	1	0	0	0	1
National Newborn Screening Laboratory, Hospital Nacional de Niños	0	4	0	1	0	0	0	1
Neonatology Unit, University Hospital of Modena	0	0	0	1	0	0	0	1
Nephrology, University of Crete, University General Hospital of Heraklion	0	9	0	1	0	0	0	1
NeuroMeGen, Hospital Clinico Santiago de Compostela	0	0	0	1	0	0	0	1
Neurogenetic Laboratory, Second Faculty of Medicine, Charles University	0	0	0	1	0	0	0	1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL)	0	1	0	1	0	0	0	1
Neurometabolisches Labor, University hospital Tuebingen	0	1	0	1	0	0	0	1
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences	0	0	0	1	0	0	0	1
Ningxia Clinical Research Institute, People's Hospital of Ningxia Hui Autonomous Region	0	0	0	0	0	0	1	1
NxGen MDx	0	1	0	1	0	0	0	1
Ophthalmic Genetics and Bioinformatics Laboratory, Shanghai Puxi and Light Genomics Technology Co., Ltd.	0	0	0	0	0	0	1	1
Ophthalmology, Kobe City Eye Hospital	0	8	0	1	0	0	0	1
PDHA1 Study Group, University Children’s Hospital, Paracelsus Medical University	0	0	0	1	0	0	0	1
Palindrome, Gene Kavoshgaran Aria	0	1	0	1	0	0	0	1
Pathway Genomics	0	5	0	1	0	0	0	1
Payam Genetics Center, General Welfare Department of North Khorasan Province	0	3	0	1	0	0	0	1
Pediatric Genetics Clinic, Sheba Medical Center	0	0	0	1	0	0	0	1
Pediatrics, MediClubGeorgia	0	0	0	1	0	0	0	1
Precision Medicine Center, Zhengzhou University	0	4	0	0	1	0	0	1
Prenatal Diagnosis Unit, University Medical Center at Ho Chi Minh City, University of Medicine and Pharmacy at Ho Chi Minh City	0	0	0	1	0	0	0	1
Refractive Surgery Department, Bright Eye Hospital	0	0	0	1	0	0	0	1
Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences	0	1	0	0	0	0	1	1
Rolfs Rare Disease Consulting, Rolfs Consulting Und Verwaltungs GmbH	0	5	0	1	0	0	0	1
Rui Chen Lab, Baylor College of Medicine	0	2	0	1	0	0	0	1
Sanford Children's Health Research Center, Sanford-Burnham-Prebys Medical Discovery Institute	0	0	0	1	0	0	0	1
Serv. Biochemistry and Molecular genetics, Hospital Clinic de Barcelona, Hospital Clínic de Barcelona	0	0	0	0	1	0	0	1
Shanghain Institute for Pediatric Research	0	2	0	1	0	0	0	1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital	0	0	0	1	0	0	0	1
Stanford Center for Inherited Cardiovascular Disease, Stanford University	0	2	0	0	0	0	1	1
Stanford Starfish Project, Stanford University	0	0	0	1	0	0	0	1
Strand Center for Genomics and Personalized Medicine, Strand Life Sciences Pvt Ltd	0	0	0	0	0	0	1	1
TIDEX, University of British Columbia	0	0	0	1	0	0	0	1
Tehran Medical Genetics Laboratory	0	0	0	1	0	0	0	1
Tgen's Center for Rare Childhood Disorders, Translational Genomics Research Institute (tgen)	0	1	0	1	0	0	0	1
Thalassemia Center, San Luigi University Hospital	0	0	0	1	0	0	0	1
The Cell Therapy Center, The University of Jordan	0	0	0	1	0	0	0	1
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital	0	0	0	1	0	0	0	1
Uitto Lab, Thomas Jefferson University	0	3	0	1	0	0	0	1
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela	0	1	0	0	0	0	1	1
Unidade de Bioquimica Genetica, Centro Hospitalar do Porto	0	0	0	1	0	0	0	1
Unidade de Eritropatologia e Metabolismo do Ferro, Centro Hospitalar e Universitário de Coimbra	0	0	0	1	0	0	0	1
University of Washington Center for Mendelian Genomics, University of Washington	0	1	0	0	0	0	1	1
Vasylyeva lab, Texas Tech University Health Sciences Center	0	7	0	1	0	0	0	1
Wonkam Laboratory, Johns Hopkins University	0	1	0	0	0	0	1	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_005629.4(SLC6A8):c.-5A>G	rs384573	1.00000
NM_012203.2(GRHPR):c.579A>G (p.Ala193=)	rs309458	0.86193
NM_000518.5(HBB):c.315+16G>C	rs10768683	0.81748
NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser)	rs757110	0.71935
NM_000152.5(GAA):c.668G>A (p.Arg223His)	rs1042395	0.65654
NM_000492.4(CFTR):c.1408G>A (p.Val470Met)	rs213950	0.56732
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser)	rs2239359	0.51262
NM_000352.6(ABCC8):c.207T>C (p.Pro69=)	rs1048099	0.47531
NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp)	rs7195066	0.46389
NM_000492.4(CFTR):c.2562T>G (p.Thr854=)	rs1042077	0.44737
NM_000352.6(ABCC8):c.1686C>T (p.His562=)	rs1799857	0.44260
NM_000352.6(ABCC8):c.3819G>A (p.Arg1273=)	rs1799859	0.39734
NM_000527.5(LDLR):c.1959T>C (p.Val653=)	rs5925	0.37645
NM_000352.6(ABCC8):c.2117-3C>T	rs1799854	0.37032
NM_000527.5(LDLR):c.1060+10G>C	rs12710260	0.34072
NM_000527.5(LDLR):c.1773C>T (p.Asn591=)	rs688	0.33665
NM_001164508.2(NEB):c.13353C>T (p.Ala4451=)	rs774726264	0.33333
NM_000159.4(GCDH):c.852+223C>T	rs11085825	0.30906
NM_138413.4(HOGA1):c.912C>A (p.Ala304=)	rs12261752	0.29673
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val)	rs1801133	0.27446
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala)	rs1801131	0.25830
NM_000492.4(CFTR):c.4389G>A (p.Gln1463=)	rs1800136	0.23047
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser)	rs2071421	0.19530
NM_000352.6(ABCC8):c.1947G>A (p.Lys649=)	rs1799858	0.16638
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met)	rs4426527	0.15412
NM_000030.3(AGXT):c.264C>T (p.Ala88=)	rs35698882	0.15328
NM_000352.6(ABCC8):c.2485C>T (p.Leu829=)	rs1805036	0.14090
NM_024301.5(FKRP):c.135C>T (p.Ala45=)	rs2287717	0.14031
NM_001039958.2(MESP2):c.573G>A (p.Gly191=)	rs113097169	0.12941
NM_000030.3(AGXT):c.654G>A (p.Ser218=)	rs33958047	0.12729
NM_001164508.2(NEB):c.11077-4G>T	rs878924060	0.11336
NM_000255.4(MMUT):c.1495G>A (p.Ala499Thr)	rs2229385	0.10476
NM_001201543.2(FAM161A):c.1665G>A (p.Leu555=)	rs6545910	0.10308
NM_006118.4(HAX1):c.159T>C (p.Ser53=)	rs13796	0.09423
NM_001384474.1(LOXHD1):c.2175C>T (p.Asn725=)	rs2086005	0.09034
NM_000498.3(CYP11B2):c.1157T>C (p.Val386Ala)	rs61757294	0.08654
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)	rs11669576	0.08075
NM_000091.5(COL4A3):c.1352A>G (p.His451Arg)	rs11677877	0.08050
NM_000709.4(BCKDHA):c.116C>A (p.Pro39His)	rs11549936	0.07892
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln)	rs35953626	0.07232
NM_001164508.2(NEB):c.13534G>A (p.Ala4512Thr)	rs886038435	0.07143
NM_001384474.1(LOXHD1):c.4868A>G (p.Glu1623Gly)	rs12606417	0.06969
NM_000352.6(ABCC8):c.330C>T (p.Ala110=)	rs8192695	0.06595
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu)	rs2227935	0.06567
NM_152564.5(VPS13B):c.9331-2A>T	rs74485751	0.06492
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg)	rs696723	0.06184
NM_020533.3(MCOLN1):c.966A>C (p.Arg322=)	rs61736600	0.06042
NM_000135.4(FANCA):c.3982A>G (p.Thr1328Ala)	rs9282681	0.05989
NM_000022.4(ADA):c.239A>G (p.Lys80Arg)	rs11555566	0.05947
NM_001384474.1(LOXHD1):c.1087G>A (p.Val363Ile)	rs10163657	0.05881
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe)	rs17233497	0.05303
NM_000487.6(ARSA):c.*96A>G	rs6151429	0.05120
NM_000352.6(ABCC8):c.4714G>A (p.Val1572Ile)	rs8192690	0.05059
NM_000135.4(FANCA):c.542C>T (p.Ala181Val)	rs17232246	0.04972
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr)	rs61747071	0.04969
NM_014049.5(ACAD9):c.-44_-41dup	rs387906242	0.04863
NM_000260.4(MYO7A):c.5156A>G (p.Tyr1719Cys)	rs77625410	0.04825
NM_000487.6(ARSA):c.1493G>A (p.Arg498His)	rs6151428	0.04709
NM_012203.2(GRHPR):c.734+9G>A	rs56401536	0.04451
NM_000135.4(FANCA):c.24C>G (p.Asn8Lys)	rs76275444	0.04436
NM_000492.4(CFTR):c.-8G>C	rs1800501	0.04368
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val)	rs35719359	0.04130
NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly)	rs17154335	0.04097
NM_130849.4(SLC39A4):c.63G>C (p.Thr21=)	rs13251676	0.04058
NM_002529.4(NTRK1):c.1838G>T (p.Gly613Val)	rs6339	0.03698
NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr)	rs6336	0.03696
NM_152419.3(HGSNAT):c.1567A>C (p.Lys523Gln)	rs73569592	0.03631
NM_031885.5(BBS2):c.1659+3A>G	rs6499838	0.03415
NM_014363.6(SACS):c.909A>G (p.Ala303=)	rs41315020	0.03313
NM_018006.5(TRMU):c.1192C>T (p.Arg398Cys)	rs34152016	0.03308
NM_000070.3(CAPN3):c.1029+3A>G	rs28364442	0.03285
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)	rs13078881	0.03225
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys)	rs35520756	0.03206
NM_004629.2(FANCG):c.1133C>T (p.Ser378Leu)	rs4986939	0.03038
NM_004629.2(FANCG):c.890C>T (p.Thr297Ile)	rs2237857	0.02972
NM_130849.4(SLC39A4):c.850G>A (p.Glu284Lys)	rs7823979	0.02971
NM_018006.5(TRMU):c.10T>G (p.Leu4Val)	rs114302881	0.02970
NM_013339.4(ALG6):c.391T>C (p.Tyr131His)	rs35383149	0.02935
NM_000277.3(PAH):c.707-7A>T	rs62508624	0.02868
NM_000531.6(OTC):c.809A>G (p.Gln270Arg)	rs1800328	0.02868
NM_000051.4(ATM):c.3403-15T>A	rs79701258	0.02833
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg)	rs7334118	0.02828
NM_201525.4(ADGRG1):c.1460T>C (p.Met487Thr)	rs17379472	0.02806
NM_000135.4(FANCA):c.3348+18A>G	rs1800347	0.02789
NM_000352.6(ABCC8):c.2277C>T (p.Thr759=)	rs1801261	0.02724
NM_138413.4(HOGA1):c.396G>A (p.Ala132=)	rs41290456	0.02716
NM_014363.6(SACS):c.1839G>A (p.Gln613=)	rs35840595	0.02663
NM_014049.5(ACAD9):c.976G>A (p.Ala326Thr)	rs115532916	0.02662
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=)	rs1801248	0.02598
NM_000391.4(TPP1):c.381-10dup	rs146315473	0.02566
NM_000051.4(ATM):c.1254A>G (p.Gln418=)	rs4987943	0.02542
NM_000135.4(FANCA):c.3859G>A (p.Val1287Ile)	rs17227354	0.02526
NM_001692.4(ATP6V1B1):c.481G>A (p.Glu161Lys)	rs114234874	0.02502
NM_000051.4(ATM):c.8786+8A>C	rs4986839	0.02488
NM_001142800.2(EYS):c.5977A>G (p.Thr1993Ala)	rs115066356	0.02473
NM_014363.6(SACS):c.2080G>A (p.Ala694Thr)	rs17325713	0.02472
NM_014244.5(ADAMTS2):c.2480G>A (p.Arg827Gln)	rs35445112	0.02465
NM_000030.3(AGXT):c.65A>G (p.Asn22Ser)	rs34885252	0.02454
NM_001142800.2(EYS):c.2157C>T (p.Cys719=)	rs9453148	0.02390
NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met)	rs45500692	0.02384
NM_001384474.1(LOXHD1):c.2T>A (p.Met1Lys)	rs36024592	0.02382
NM_206933.4(USH2A):c.15377T>C (p.Ile5126Thr)	rs111033266	0.02380
NM_003060.4(SLC22A5):c.1645C>T (p.Pro549Ser)	rs11568525	0.02345
NM_152618.3(BBS12):c.1381A>C (p.Asn461His)	rs10027479	0.02341
NM_000030.3(AGXT):c.883G>A (p.Ala295Thr)	rs13408961	0.02312
NM_000151.4(G6PC1):c.432G>A (p.Pro144=)	rs161628	0.02252
NM_001378454.1(ALMS1):c.4962G>T (p.Lys1654Asn)	rs28730853	0.02251
NM_000414.4(HSD17B4):c.875C>G (p.Thr292Ser)	rs1143650	0.02248
NM_000135.4(FANCA):c.2151G>T (p.Met717Ile)	rs1131660	0.02234
NM_000152.5(GAA):c.271G>A (p.Asp91Asn)	rs1800299	0.02215
NM_003227.4(TFR2):c.2255G>A (p.Arg752His)	rs41295942	0.02204
NM_003640.5(ELP1):c.934G>A (p.Glu312Lys)	rs1140064	0.02197
NM_000182.5(HADHA):c.1072C>A (p.Gln358Lys)	rs2229420	0.02193
NM_005373.3(MPL):c.340G>A (p.Val114Met)	rs12731981	0.02191
NM_003060.4(SLC22A5):c.430C>T (p.Leu144Phe)	rs10040427	0.02190
NM_000170.3(GLDC):c.671G>A (p.Arg224His)	rs28617412	0.02144
NM_213653.4(HJV):c.929C>G (p.Ala310Gly)	rs7540883	0.02143
NM_000051.4(ATM):c.5497-8T>C	rs3092829	0.02129
NM_001142800.2(EYS):c.2739G>A (p.Arg913=)	rs77020971	0.02117
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)	rs3743930	0.02112
NM_024312.5(GNPTAB):c.1931C>T (p.Thr644Ile)	rs76889468	0.02108
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala)	rs34258285	0.02088
NM_133259.4(LRPPRC):c.1888C>T (p.Leu630=)	rs35881858	0.02080
NM_000441.2(SLC26A4):c.2130C>T (p.Asp710=)	rs17154347	0.02079
NM_012434.5(SLC17A5):c.1111+7G>A	rs146729568	0.01982
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg)	rs11934801	0.01974
NM_000260.4(MYO7A):c.4023C>T (p.Pro1341=)	rs73495790	0.01973
NM_001384474.1(LOXHD1):c.966G>C (p.Gly322=)	rs114082868	0.01931
NM_001142800.2(EYS):c.2733T>C (p.Asn911=)	rs75634595	0.01917
NM_206933.4(USH2A):c.13297G>T (p.Val4433Leu)	rs111033381	0.01895
NM_000260.4(MYO7A):c.2035G>A (p.Val679Ile)	rs35641839	0.01879
NM_003640.5(ELP1):c.189C>T (p.Leu63=)	rs2230786	0.01873
NM_003640.5(ELP1):c.959-15C>T	rs112114410	0.01858
NM_000135.4(FANCA):c.755A>G (p.Asp252Gly)	rs17225943	0.01851
NM_000091.5(COL4A3):c.2715C>T (p.Pro905=)	rs75519005	0.01848
NM_138694.4(PKHD1):c.9577G>A (p.Val3193Ile)	rs35445653	0.01835
NM_004646.4(NPHS1):c.59-5C>G	rs114595892	0.01814
NM_000070.3(CAPN3):c.78G>A (p.Pro26=)	rs62642519	0.01774
NM_000642.3(AGL):c.1155G>T (p.Lys385Asn)	rs28730701	0.01764
NM_000051.4(ATM):c.1541G>A (p.Gly514Asp)	rs2235000	0.01739
NM_001378454.1(ALMS1):c.671C>A (p.Pro224His)	rs11889925	0.01714
NM_001384474.1(LOXHD1):c.2370C>T (p.Asp790=)	rs34723936	0.01692
NM_000260.4(MYO7A):c.5619G>A (p.Arg1873=)	rs45450893	0.01687
NM_000492.4(CFTR):c.1584G>A (p.Glu528=)	rs1800095	0.01670
NM_000092.5(COL4A4):c.3486A>G (p.Pro1162=)	rs2229815	0.01659
NM_001378454.1(ALMS1):c.10303A>G (p.Lys3435Glu)	rs34071195	0.01643
NM_003640.5(ELP1):c.751A>G (p.Ser251Gly)	rs17853166	0.01640
NM_000092.5(COL4A4):c.2008G>A (p.Val670Ile)	rs34236495	0.01622
NM_003982.4(SLC7A7):c.272C>T (p.Ala91Val)	rs11568438	0.01617
NM_003640.5(ELP1):c.2587+14C>T	rs141670242	0.01614
NM_000092.5(COL4A4):c.2439A>T (p.Gly813=)	rs34835657	0.01612
NM_000784.4(CYP27A1):c.888A>G (p.Gln296=)	rs61733619	0.01599
NM_003640.5(ELP1):c.2855A>T (p.Lys952Ile)	rs2230798	0.01592
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser)	rs11466023	0.01590
NM_004004.6(GJB2):c.-15C>T	rs72561725	0.01589
NM_033056.4(PCDH15):c.5359C>T (p.Pro1787Ser)	rs61862390	0.01583
NM_000277.3(PAH):c.963C>T (p.Leu321=)	rs61747292	0.01582
NM_000070.3(CAPN3):c.479C>G (p.Ala160Gly)	rs17592	0.01574
NM_000271.5(NPC1):c.1503C>T (p.Asp501=)	rs116046557	0.01565
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser)	rs35034250	0.01555
NM_000051.4(ATM):c.1636C>G (p.Leu546Val)	rs2227924	0.01541
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu)	rs41272687	0.01532
NM_001384474.1(LOXHD1):c.1876G>T (p.Gly626Cys)	rs34589386	0.01503
NM_003659.4(AGPS):c.1173C>G (p.Gly391=)	rs115580413	0.01496
NM_000202.8(IDS):c.641C>T (p.Thr214Met)	rs61736892	0.01492
NM_000030.3(AGXT):c.705G>A (p.Thr235=)	rs35977912	0.01476
NM_000098.3(CPT2):c.1055T>G (p.Phe352Cys)	rs2229291	0.01469
NM_003640.5(ELP1):c.3876T>G (p.Thr1292=)	rs61749202	0.01463
NM_000092.5(COL4A4):c.1323T>C (p.Pro441=)	rs35830639	0.01457
NM_000094.4(COL7A1):c.89C>T (p.Thr30Ile)	rs74453879	0.01453
NM_206933.4(USH2A):c.2109T>C (p.Asp703=)	rs45555435	0.01452
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser)	rs17154353	0.01449
NM_024312.5(GNPTAB):c.1482G>A (p.Gln494=)	rs11111008	0.01428
NM_014844.5(TECPR2):c.2941C>A (p.Gln981Lys)	rs62000389	0.01415
NM_014363.6(SACS):c.7149C>T (p.Arg2383=)	rs17078608	0.01409
NM_020533.3(MCOLN1):c.1200C>T (p.Gly400=)	rs28541364	0.01398
NM_000352.6(ABCC8):c.1158C>T (p.Asn386=)	rs60824529	0.01375
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu)	rs1800362	0.01368
NM_001384474.1(LOXHD1):c.3269G>A (p.Arg1090Gln)	rs118174674	0.01368
NM_000282.4(PCCA):c.1429+7A>G	rs16957276	0.01356
NM_000092.5(COL4A4):c.4656G>A (p.Met1552Ile)	rs77104306	0.01346
NM_206933.4(USH2A):c.15091C>T (p.Arg5031Trp)	rs56038610	0.01345
NM_005373.3(MPL):c.117G>T (p.Lys39Asn)	rs17292650	0.01329
NM_000237.3(LPL):c.953A>G (p.Asn318Ser)	rs268	0.01327
NM_000352.6(ABCC8):c.4120-19C>T	rs1800853	0.01325
NM_000498.3(CYP11B2):c.606A>G (p.Leu202=)	rs113284476	0.01323
NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp)	rs35730265	0.01315
NM_000466.3(PEX1):c.1671-7T>C	rs74519968	0.01312
NM_000198.4(HSD3B2):c.707T>C (p.Leu236Ser)	rs35887327	0.01309
NM_000352.6(ABCC8):c.3329+6C>T	rs113873225	0.01304
NM_000051.4(ATM):c.2614C>T (p.Pro872Ser)	rs3218673	0.01296
NM_013339.4(ALG6):c.1357C>G (p.Leu453Val)	rs41285372	0.01295
NM_206933.4(USH2A):c.11677C>A (p.Pro3893Thr)	rs41303285	0.01295
NM_000092.5(COL4A4):c.2996G>A (p.Gly999Glu)	rs13027659	0.01279
NM_001164508.2(NEB):c.195G>A (p.Pro65=)	rs79524813	0.01277
NM_001875.5(CPS1):c.4126G>A (p.Gly1376Ser)	rs140578009	0.01275
NM_153676.4(USH1C):c.388G>A (p.Val130Ile)	rs55843567	0.01274
NM_138694.4(PKHD1):c.1234-5C>T	rs116124750	0.01262
NM_153006.3(NAGS):c.182A>G (p.Glu61Gly)	rs113134544	0.01260
NM_020320.5(RARS2):c.63A>G (p.Pro21=)	rs7748563	0.01223
NM_001142800.2(EYS):c.-459C>T	rs144371265	0.01208
NM_001003722.2(GLE1):c.1000G>A (p.Glu334Lys)	rs138310419	0.01201
NM_000070.3(CAPN3):c.62G>A (p.Gly21Glu)	rs28364364	0.01193
NM_000260.4(MYO7A):c.6519C>T (p.Asn2173=)	rs111033230	0.01192
NM_000352.6(ABCC8):c.2041-28C>T	rs116419577	0.01185
NM_024312.5(GNPTAB):c.1042A>C (p.Ile348Leu)	rs7958709	0.01184
NM_000092.5(COL4A4):c.2717-5A>T	rs1800519	0.01182
NM_000094.4(COL7A1):c.6696C>A (p.Pro2232=)	rs61729223	0.01181
NM_004268.5(MED17):c.1482A>G (p.Gln494=)	rs34380494	0.01172
NM_000128.4(F11):c.-54G>A	rs4253814	0.01170
NM_138694.4(PKHD1):c.11878G>A (p.Val3960Ile)	rs34548196	0.01161
NM_000092.5(COL4A4):c.2791G>A (p.Ala931Thr)	rs75875272	0.01153
NM_000092.5(COL4A4):c.2796G>A (p.Lys932=)	rs34591179	0.01146
NM_000359.3(TGM1):c.1552G>A (p.Val518Met)	rs35312232	0.01146
NM_000070.3(CAPN3):c.1116-5A>G	rs28364467	0.01144
NM_000203.5(IDUA):c.1174C>T (p.Leu392=)	rs201682298	0.01139
NM_000071.3(CBS):c.304A>C (p.Lys102Gln)	rs34040148	0.01138
NM_012203.2(GRHPR):c.509G>A (p.Arg170Gln)	rs12002324	0.01126
NM_001033855.3(DCLRE1C):c.959C>G (p.Ser320Cys)	rs41298896	0.01123
NM_000383.4(AIRE):c.1411C>T (p.Arg471Cys)	rs74203920	0.01120
NM_001164508.2(NEB):c.3147+5G>A	rs74859201	0.01118
NM_000478.6(ALPL):c.1542G>T (p.Ala514=)	rs3200256	0.01113
NM_138694.4(PKHD1):c.10585G>C (p.Glu3529Gln)	rs145184792	0.01112
NM_001370658.1(BTD):c.820A>G (p.Ile274Val)	rs35976361	0.01107
NM_153676.4(USH1C):c.819+10G>C	rs41282936	0.01105
NM_000352.6(ABCC8):c.4728C>T (p.Phe1576=)	rs73419228	0.01100
NM_001384474.1(LOXHD1):c.2080G>T (p.Asp694Tyr)	rs35727744	0.01099
NM_000352.6(ABCC8):c.1333-1032G>A	rs11821525	0.01097
NM_006623.4(PHGDH):c.792+6T>G	rs146953046	0.01087
NM_001142800.2(EYS):c.777G>A (p.Gln259=)	rs78079047	0.01086
NM_000051.4(ATM):c.735C>T (p.Val245=)	rs3218674	0.01085
NM_000053.4(ATP7B):c.4302G>A (p.Thr1434=)	rs116091486	0.01080
NM_000070.3(CAPN3):c.2433T>C (p.Val811=)	rs28364543	0.01076
NM_001126108.2(SLC12A3):c.2182G>A (p.Ala728Thr)	rs36049418	0.01075
NM_000053.4(ATP7B):c.3891C>T (p.Val1297=)	rs114771537	0.01071
NM_001164508.2(NEB):c.5567G>A (p.Arg1856Gln)	rs141930814	0.01071
NM_178138.6(LHX3):c.108G>A (p.Gln36=)	rs33998096	0.01071
NM_000536.4(RAG2):c.1158C>A (p.Phe386Leu)	rs34629171	0.01070
NM_001142800.2(EYS):c.5044G>T (p.Asp1682Tyr)	rs75831552	0.01062
NM_000441.2(SLC26A4):c.970A>T (p.Asn324Tyr)	rs36039758	0.01056
NM_138694.4(PKHD1):c.8606C>A (p.Thr2869Lys)	rs142522748	0.01047
NM_000360.4(TH):c.1200+9C>T	rs11564717	0.01045
NM_000383.4(AIRE):c.755C>T (p.Pro252Leu)	rs34397615	0.01042
NM_001360.3(DHCR7):c.570C>T (p.Ala190=)	rs74909468	0.01042
NM_012203.2(GRHPR):c.963G>A (p.Pro321=)	rs76299266	0.01042
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg)	rs34885143	0.01036
NM_000046.5(ARSB):c.98C>T (p.Ala33Val)	rs201168448	0.01022
NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr)	rs11466045	0.01021
NM_024312.5(GNPTAB):c.136C>A (p.Arg46=)	rs78347057	0.01017
NM_001369.3(DNAH5):c.3987A>G (p.Lys1329=)	rs146191243	0.01011
NM_000352.6(ABCC8):c.423G>A (p.Val141=)	rs116132921	0.01009
NM_000441.2(SLC26A4):c.1002-9A>C	rs10234822	0.01002
NM_001378454.1(ALMS1):c.5433G>C (p.Lys1811Asn)	rs78039319	0.00994
NM_001360.3(DHCR7):c.99-4G>A	rs140748737	0.00988
NM_033159.4(HYAL1):c.270G>C (p.Glu90Asp)	rs74342080	0.00979
NM_014363.6(SACS):c.12762C>T (p.Ser4254=)	rs11554397	0.00978
NM_000237.3(LPL):c.1279G>A (p.Ala427Thr)	rs5934	0.00972
NM_000521.4(HEXB):c.449C>A (p.Thr150Asn)	rs148268937	0.00967
NM_000527.5(LDLR):c.90C>T (p.Asn30=)	rs72658855	0.00965
NM_206933.4(USH2A):c.13763C>A (p.Ser4588Tyr)	rs78253373	0.00962
NM_001384474.1(LOXHD1):c.1742T>C (p.Val581Ala)	rs35007621	0.00961
NM_000391.4(TPP1):c.1044C>T (p.Ala348=)	rs35706972	0.00959
NM_000487.6(ARSA):c.624T>C (p.His208=)	rs113990230	0.00957
NM_002485.5(NBN):c.797C>T (p.Pro266Leu)	rs769420	0.00955
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn)	rs74374973	0.00953
NM_206933.4(USH2A):c.11928G>A (p.Thr3976=)	rs55961436	0.00950
NM_000352.6(ABCC8):c.1572G>A (p.Thr524=)	rs61748766	0.00948
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)	rs35887622	0.00944
NM_023036.6(DNAI2):c.590A>T (p.Asp197Val)	rs35636875	0.00940
NM_001164508.2(NEB):c.21044C>G (p.Ser7015Cys)	rs62167164	0.00935
NM_014363.6(SACS):c.10305T>C (p.Ser3435=)	rs35670472	0.00933
NM_000018.4(ACADVL):c.1600G>A (p.Glu534Lys)	rs2230180	0.00920
NM_000018.4(ACADVL):c.623-8C>T	rs144996066	0.00919
NM_138694.4(PKHD1):c.888A>T (p.Pro296=)	rs76012218	0.00916
NM_001360.3(DHCR7):c.25A>T (p.Ile9Phe)	rs115595829	0.00911
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys)	rs138611001	0.00910
NM_000492.4(CFTR):c.2898G>A (p.Thr966=)	rs1800109	0.00907
NM_001142800.2(EYS):c.4093A>G (p.Lys1365Glu)	rs16895519	0.00905
NM_023036.6(DNAI2):c.234G>A (p.Glu78=)	rs35985071	0.00904
NM_000391.4(TPP1):c.1494C>T (p.Pro498=)	rs117942457	0.00902
NM_000027.4(AGA):c.313C>A (p.Leu105Ile)	rs76491548	0.00896
NM_000255.4(MMUT):c.1992G>A (p.Ala664=)	rs144146728	0.00891
NM_024996.7(GFM1):c.127A>G (p.Asn43Asp)	rs35942089	0.00886
NM_000070.3(CAPN3):c.73C>T (p.His25Tyr)	rs61735534	0.00885
NM_000709.4(BCKDHA):c.34C>A (p.Arg12=)	rs34541442	0.00885
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys)	rs41273726	0.00885
NM_054012.4(ASS1):c.364-6T>C	rs116103138	0.00881
NM_002225.5(IVD):c.88C>T (p.His30Tyr)	rs73383128	0.00876
NM_000169.3(GLA):c.-30G>A	rs3027584	0.00873
NM_012203.2(GRHPR):c.493+9C>T	rs41303225	0.00873
NM_004035.7(ACOX1):c.921G>A (p.Arg307=)	rs79677613	0.00869
NM_033305.3(VPS13A):c.5979C>T (p.Arg1993=)	rs41289971	0.00867
NM_000243.3(MEFV):c.2118G>A (p.Pro706=)	rs2234939	0.00864
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln)	rs17885240	0.00863
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu)	rs1800056	0.00861
NM_000478.6(ALPL):c.1381G>A (p.Val461Ile)	rs34810399	0.00860
NM_152618.3(BBS12):c.714T>G (p.Asn238Lys)	rs17006082	0.00860
NM_000642.3(AGL):c.3619G>A (p.Ala1207Thr)	rs11807956	0.00858
NM_001164508.2(NEB):c.6159G>A (p.Lys2053=)	rs140186806	0.00856
NM_000310.4(PPT1):c.*3C>A	rs150454815	0.00852
NM_033305.3(VPS13A):c.9370C>A (p.His3124Asn)	rs117983287	0.00850
NM_000243.3(MEFV):c.1503C>T (p.Arg501=)	rs76464258	0.00846
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg)	rs1800746	0.00831
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn)	rs115311625	0.00829
NM_133259.4(LRPPRC):c.2481A>G (p.Pro827=)	rs115993634	0.00825
NM_201548.5(CERKL):c.677+566G>T	rs10185262	0.00821
NM_001365088.1(SLC12A6):c.408T>C (p.Phe136=)	rs145186782	0.00819
NM_133259.4(LRPPRC):c.79C>T (p.Leu27Phe)	rs116727742	0.00819
NM_003640.5(ELP1):c.1758T>G (p.Pro586=)	rs35054425	0.00792
NM_000709.4(BCKDHA):c.452C>T (p.Thr151Met)	rs34442879	0.00790
NM_001386140.1(MTTP):c.502G>A (p.Val168Ile)	rs61750974	0.00790
NM_153676.4(USH1C):c.2499C>T (p.Ile833=)	rs34581703	0.00789
NM_002485.5(NBN):c.2146A>G (p.Asn716Asp)	rs72563785	0.00775
NM_000527.5(LDLR):c.941-4G>A	rs116405216	0.00771
NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn)	rs114402911	0.00770
NM_000255.4(MMUT):c.-39-26T>A	rs144458425	0.00764
NM_013339.4(ALG6):c.1323T>C (p.Tyr441=)	rs116660078	0.00763
NM_138694.4(PKHD1):c.4035C>A (p.Gly1345=)	rs140791735	0.00758
NM_001360.3(DHCR7):c.-195G>T	rs141057811	0.00755
NM_025216.3(WNT10A):c.493G>A (p.Gly165Arg)	rs77583146	0.00755
NM_001384474.1(LOXHD1):c.4526G>A (p.Gly1509Glu)	rs187587197	0.00751
NM_000527.5(LDLR):c.940+9C>T	rs17242906	0.00749
NM_000260.4(MYO7A):c.3246G>A (p.Thr1082=)	rs35963362	0.00745
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp)	rs35799469	0.00744
NM_000642.3(AGL):c.1481G>A (p.Arg494His)	rs141043166	0.00743
NM_138694.4(PKHD1):c.7921A>G (p.Thr2641Ala)	rs7766366	0.00741
NM_000260.4(MYO7A):c.5215C>A (p.Arg1739=)	rs111033477	0.00740
NM_000170.3(GLDC):c.319A>G (p.Met107Val)	rs138454333	0.00739
NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn)	rs61750442	0.00739
NM_000481.4(AMT):c.631G>A (p.Glu211Lys)	rs116192290	0.00735
NM_054012.4(ASS1):c.675C>T (p.Ile225=)	rs58233547	0.00735
NM_001164508.2(NEB):c.20078C>T (p.Thr6693Ile)	rs35707762	0.00734
NM_000170.3(GLDC):c.2380G>A (p.Ala794Thr)	rs141933811	0.00728
NM_138694.4(PKHD1):c.10515C>A (p.Ser3505Arg)	rs139014478	0.00721
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn)	rs115014558	0.00719
NM_138694.4(PKHD1):c.7110-7T>A	rs113034899	0.00718
NM_001384474.1(LOXHD1):c.1028G>A (p.Arg343His)	rs183531840	0.00717
NM_000284.4(PDHA1):c.844A>C (p.Met282Leu)	rs2229137	0.00715
NM_001384474.1(LOXHD1):c.2027A>G (p.Asp676Gly)	rs16978578	0.00715
NM_000051.4(ATM):c.146C>G (p.Ser49Cys)	rs1800054	0.00712
NM_000051.4(ATM):c.544G>C (p.Val182Leu)	rs3218707	0.00711
NM_001201543.2(FAM161A):c.423-7C>T	rs144455077	0.00709
NM_000360.4(TH):c.684G>A (p.Glu228=)	rs11564716	0.00706
NM_014363.6(SACS):c.4117G>C (p.Ala1373Pro)	rs61326562	0.00706
NM_014363.6(SACS):c.6069C>T (p.Asn2023=)	rs35369023	0.00706
NM_014363.6(SACS):c.5502G>C (p.Leu1834=)	rs34389000	0.00705
NM_000053.4(ATP7B):c.4311G>A (p.Lys1437=)	rs73202048	0.00704
NM_001201543.2(FAM161A):c.906A>G (p.Gln302=)	rs76110744	0.00702
NM_138694.4(PKHD1):c.8521A>G (p.Met2841Val)	rs113562492	0.00702
NM_001384140.1(PCDH15):c.4024C>A (p.Gln1342Lys)	rs61731387	0.00699
NM_001164508.2(NEB):c.2832C>T (p.Ser944=)	rs114076205	0.00690
NM_152564.5(VPS13B):c.9349A>G (p.Ser3117Gly)	rs113671330	0.00689
NM_001142800.2(EYS):c.1596A>C (p.Lys532Asn)	rs61753611	0.00688
NM_000092.5(COL4A4):c.198A>G (p.Pro66=)	rs147947155	0.00681
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg)	rs115045643	0.00681
NM_000153.4(GALC):c.1302C>T (p.Ser434=)	rs3213918	0.00674
NM_000784.4(CYP27A1):c.-6C>T	rs199891090	0.00673
NM_001164508.2(NEB):c.6069G>A (p.Met2023Ile)	rs184262608	0.00672
NM_004035.7(ACOX1):c.80C>T (p.Pro27Leu)	rs145082938	0.00672
NM_033305.3(VPS13A):c.8676C>T (p.Ile2892=)	rs117485827	0.00672
NM_000170.3(GLDC):c.52G>T (p.Gly18Cys)	rs535143891	0.00670
NM_000441.2(SLC26A4):c.15C>A (p.Gly5=)	rs7811324	0.00669
NM_001378454.1(ALMS1):c.10628C>G (p.Thr3543Ser)	rs45501594	0.00668
NM_001142800.2(EYS):c.8422G>A (p.Ala2808Thr)	rs111991705	0.00667
NM_001164508.2(NEB):c.3191A>G (p.Tyr1064Cys)	rs187343008	0.00665
NM_000153.4(GALC):c.1788C>T (p.Phe596=)	rs115018138	0.00658
NM_152564.5(VPS13B):c.10049C>T (p.Thr3350Ile)	rs138127778	0.00658
NM_000271.5(NPC1):c.2661G>A (p.Pro887=)	rs9949660	0.00656
NM_001384474.1(LOXHD1):c.274G>A (p.Val92Ile)	rs115275492	0.00656
NM_000170.3(GLDC):c.2203G>T (p.Val735Leu)	rs143119940	0.00650
NM_000051.4(ATM):c.6235G>A (p.Val2079Ile)	rs1800060	0.00649
NM_001384474.1(LOXHD1):c.1431+10G>T	rs57330753	0.00648
NM_001201543.2(FAM161A):c.1013G>A (p.Arg338Gln)	rs149314387	0.00644
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser)	rs45439799	0.00640
NM_152419.3(HGSNAT):c.1693G>C (p.Gly565Arg)	rs148632988	0.00638
NM_000053.4(ATP7B):c.-54G>T	rs115564351	0.00634
NM_000492.4(CFTR):c.4272C>T (p.Tyr1424=)	rs1800135	0.00634
NM_138694.4(PKHD1):c.4343A>G (p.Glu1448Gly)	rs116809571	0.00632
NM_001384474.1(LOXHD1):c.3999C>T (p.Cys1333=)	rs117297079	0.00630
NM_000543.5(SMPD1):c.1625G>A (p.Arg542Gln)	rs113467489	0.00629
NM_138694.4(PKHD1):c.6245C>T (p.Thr2082Ile)	rs147487242	0.00628
NM_000157.4(GBA1):c.1223C>T (p.Thr408Met)	rs75548401	0.00627
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys)	rs1800100	0.00625
NM_004629.2(FANCG):c.988C>T (p.Pro330Ser)	rs4986940	0.00622
NM_000071.3(CBS):c.1145+7C>T	rs201158177	0.00620
NM_000243.3(MEFV):c.*9C>T	rs11466048	0.00618
NM_000260.4(MYO7A):c.4461C>T (p.Asn1487=)	rs56174006	0.00618
NM_000260.4(MYO7A):c.3042G>T (p.Thr1014=)	rs111033507	0.00617
NM_001875.5(CPS1):c.449G>A (p.Gly150Glu)	rs114819130	0.00616
NM_206933.4(USH2A):c.15076A>G (p.Lys5026Glu)	rs41308435	0.00614
NM_000153.4(GALC):c.195+10A>G	rs191767015	0.00612
NM_000051.4(ATM):c.5793T>C (p.Ala1931=)	rs3092910	0.00608
NM_001360.3(DHCR7):c.1092G>A (p.Thr364=)	rs35946774	0.00608
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe)	rs61749895	0.00606
NM_206933.4(USH2A):c.9262G>A (p.Glu3088Lys)	rs56056328	0.00606
NM_000498.3(CYP11B2):c.825C>T (p.Tyr275=)	rs5310	0.00605
NM_000051.4(ATM):c.3383A>G (p.Gln1128Arg)	rs2229020	0.00600
NM_004646.4(NPHS1):c.563A>T (p.Asn188Ile)	rs145125791	0.00600
NM_000521.4(HEXB):c.1051T>C (p.Leu351=)	rs114661695	0.00599
NM_000498.3(CYP11B2):c.743T>C (p.Ile248Thr)	rs4547	0.00598
NM_000143.4(FH):c.53C>T (p.Pro18Leu)	rs201887750	0.00597
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser)	rs147099630	0.00597
NM_000195.5(HPS1):c.1698G>A (p.Ser566=)	rs148450315	0.00596
NM_000158.4(GBE1):c.176T>C (p.Ile59Thr)	rs28763904	0.00592
NM_000282.4(PCCA):c.1846-9G>T	rs141118743	0.00591
NM_006019.4(TCIRG1):c.479G>A (p.Gly160Glu)	rs186758849	0.00587
NM_206933.4(USH2A):c.7685T>C (p.Val2562Ala)	rs56385601	0.00586
NM_032520.5(GNPTG):c.255G>A (p.Pro85=)	rs76594024	0.00583
NM_000466.3(PEX1):c.3720C>T (p.His1240=)	rs34825053	0.00582
NM_000170.3(GLDC):c.871T>G (p.Cys291Gly)	rs141014950	0.00580
NM_001130987.2(DYSF):c.1216G>C (p.Val406Leu)	rs150724610	0.00580
NM_000070.3(CAPN3):c.984C>T (p.Cys328=)	rs28364441	0.00579
NM_002435.3(MPI):c.982C>T (p.Arg328Trp)	rs117089191	0.00577
NM_016277.5(RAB23):c.301T>G (p.Ser101Ala)	rs45479896	0.00575
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg)	rs142645936	0.00573
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg)	rs34911792	0.00573
NM_133259.4(LRPPRC):c.58C>T (p.Leu20Phe)	rs184339274	0.00572
NM_138694.4(PKHD1):c.2279+13T>G	rs188914598	0.00572
NM_000543.5(SMPD1):c.1071C>T (p.Ala357=)	rs72896268	0.00571
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=)	rs1800118	0.00570
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr)	rs35196441	0.00569
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr)	rs138036823	0.00569
NM_000051.4(ATM):c.186-7C>T	rs55674039	0.00568
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg)	rs17233141	0.00567
NM_001378454.1(ALMS1):c.10272G>C (p.Lys3424Asn)	rs34398445	0.00566
NM_002529.4(NTRK1):c.1728C>T (p.Phe576=)	rs6335	0.00563
NM_000260.4(MYO7A):c.4074C>T (p.Ser1358=)	rs78996818	0.00559
NM_000784.4(CYP27A1):c.921G>A (p.Val307=)	rs147975335	0.00559
NM_005709.4(USH1C):c.1266G>A (p.Thr422=)	rs35188020	0.00558
NM_014363.6(SACS):c.10896A>G (p.Ile3632Met)	rs35256065	0.00558
NM_001126108.2(SLC12A3):c.2857-6G>A	rs117981500	0.00557
NM_000359.3(TGM1):c.1559A>G (p.Glu520Gly)	rs142404759	0.00555
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp)	rs115338476	0.00551
NM_001164508.2(NEB):c.5905T>C (p.Tyr1969His)	rs34532796	0.00550
NM_001352514.2(HLCS):c.726C>T (p.Pro242=)	rs2230182	0.00548
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr)	rs111033282	0.00546
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser)	rs55638457	0.00545
NM_001360.3(DHCR7):c.1008C>T (p.His336=)	rs75225632	0.00542
NM_000057.4(BLM):c.2075-12G>T	rs28385027	0.00541
NM_000128.4(F11):c.731A>G (p.Gln244Arg)	rs5969	0.00538
NM_000049.4(ASPA):c.703G>A (p.Glu235Lys)	rs149842031	0.00537
NM_001365088.1(SLC12A6):c.1412G>C (p.Ser471Thr)	rs140916001	0.00534
NM_002529.4(NTRK1):c.2272G>A (p.Ala758Thr)	rs62640939	0.00534
NM_000532.5(PCCB):c.546G>A (p.Arg182=)	rs61598773	0.00533
NM_005609.4(PYGM):c.645G>A (p.Lys215=)	rs116315896	0.00530
NM_017890.5(VPS13B):c.4197T>C (p.Gly1399=)	rs149796549	0.00530
NM_001164508.2(NEB):c.5802C>T (p.Gly1934=)	rs139963368	0.00529
NM_000018.4(ACADVL):c.636C>T (p.Ala212=)	rs76547988	0.00527
NM_001126108.2(SLC12A3):c.774C>T (p.Asn258=)	rs111578437	0.00523
NM_000137.4(FAH):c.315-14G>A	rs139830755	0.00521
NM_000360.4(TH):c.267G>A (p.Arg89=)	rs76240471	0.00521
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala)	rs1800098	0.00519
NM_138694.4(PKHD1):c.9829+10T>G	rs143526199	0.00518
NM_001164508.2(NEB):c.17049G>T (p.Ala5683=)	rs140688592	0.00517
NM_000642.3(AGL):c.3758G>A (p.Arg1253His)	rs12043139	0.00515
NM_001378454.1(ALMS1):c.6752A>G (p.Asp2251Gly)	rs28730855	0.00515
NM_014363.6(SACS):c.1593C>T (p.Ile531=)	rs113756713	0.00513
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe)	rs1800361	0.00511
NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp)	rs149842139	0.00511
NM_152618.3(BBS12):c.1103G>A (p.Arg368His)	rs78457123	0.00511
NM_024312.5(GNPTAB):c.137G>A (p.Arg46Gln)	rs117566084	0.00508
NM_001384474.1(LOXHD1):c.1843C>A (p.Arg615=)	rs112463030	0.00507
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile)	rs146722795	0.00506
NM_001876.4(CPT1A):c.863G>A (p.Arg288Gln)	rs140958507	0.00501
NM_000052.7(ATP7A):c.4201G>C (p.Val1401Leu)	rs5959130	0.00500
NM_002454.3(MTRR):c.288C>T (p.Leu96=)	rs35587995	0.00500
NM_000260.4(MYO7A):c.4697C>T (p.Thr1566Met)	rs41298747	0.00497
NM_000352.6(ABCC8):c.4542C>A (p.Ala1514=)	rs113282901	0.00497
NM_000277.3(PAH):c.820A>G (p.Lys274Glu)	rs142934616	0.00496
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)	rs45508991	0.00495
NM_001875.5(CPS1):c.3029C>T (p.Thr1010Met)	rs79627159	0.00494
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val)	rs121908954	0.00491
NM_000271.5(NPC1):c.2073G>A (p.Pro691=)	rs113013085	0.00490
NM_000543.5(SMPD1):c.813T>C (p.Pro271=)	rs61876771	0.00488
NM_005373.3(MPL):c.1565+5C>T	rs41269541	0.00488
NM_000070.3(CAPN3):c.318C>T (p.Cys106=)	rs117609395	0.00486
NM_000243.3(MEFV):c.2163C>T (p.Phe721=)	rs11466047	0.00484
NM_138694.4(PKHD1):c.6777C>T (p.Phe2259=)	rs140065359	0.00482
NM_000051.4(ATM):c.6088A>G (p.Ile2030Val)	rs145847315	0.00477
NM_025136.4(OPA3):c.412G>A (p.Ala138Thr)	rs201574732	0.00477
NM_000255.4(MMUT):c.1629C>T (p.Ser543=)	rs150642856	0.00476
NM_017777.4(MKS1):c.1436G>A (p.Arg479His)	rs111315726	0.00476
NM_001360.3(DHCR7):c.549C>T (p.Cys183=)	rs115446684	0.00470
NM_024649.5(BBS1):c.1020C>G (p.Ser340=)	rs35209408	0.00470
NM_000263.4(NAGLU):c.675G>T (p.Leu225=)	rs115680529	0.00469
NM_130849.4(SLC39A4):c.948C>T (p.Pro316=)	rs60615103	0.00469
NM_001360.3(DHCR7):c.99-10G>A	rs189549129	0.00467
NM_001378454.1(ALMS1):c.2764C>T (p.Leu922=)	rs143885319	0.00467
NM_001378454.1(ALMS1):c.8742A>G (p.Val2914=)	rs142611294	0.00466
NM_000170.3(GLDC):c.1707+8G>A	rs144666843	0.00464
NM_001142800.2(EYS):c.5601T>C (p.Ser1867=)	rs182322608	0.00464
NM_000263.4(NAGLU):c.1788C>T (p.Gly596=)	rs115166595	0.00463
NM_000359.3(TGM1):c.365C>T (p.Ser122Leu)	rs141486741	0.00463
NM_000108.5(DLD):c.543A>T (p.Ile181=)	rs61749952	0.00461
NM_018006.5(TRMU):c.387A>G (p.Ala129=)	rs144586525	0.00461
NM_000152.5(GAA):c.2580C>T (p.Asp860=)	rs61736894	0.00459
NM_000243.3(MEFV):c.1759+8C>T	rs77380520	0.00459
NM_000243.3(MEFV):c.1760-4G>A	rs79662406	0.00459
NM_000098.3(CPT2):c.1578T>C (p.Gly526=)	rs113493395	0.00455
NM_000057.4(BLM):c.615G>A (p.Lys205=)	rs28903082	0.00454
NM_000159.4(GCDH):c.1085C>A (p.Ala362Asp)	rs114759170	0.00453
NM_138694.4(PKHD1):c.11738G>A (p.Arg3913His)	rs2661487	0.00453
NM_153717.3(EVC):c.469C>G (p.Pro157Ala)	rs146729456	0.00451
NM_000492.4(CFTR):c.1581A>G (p.Glu527=)	rs1800094	0.00450
NM_000153.4(GALC):c.1403C>G (p.Thr468Ser)	rs34134328	0.00449
NM_006019.4(TCIRG1):c.1515C>T (p.Thr505=)	rs34211419	0.00447
NM_005609.4(PYGM):c.2009C>T (p.Ala670Val)	rs113806080	0.00446
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg)	rs61759485	0.00445
NM_012203.2(GRHPR):c.962C>T (p.Pro321Leu)	rs142356700	0.00442
NM_152419.3(HGSNAT):c.1250+7G>A	rs74795999	0.00442
NM_001033855.3(DCLRE1C):c.1893C>T (p.Pro631=)	rs41300676	0.00441
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val)	rs1801673	0.00439
NM_000057.4(BLM):c.4076+4T>G	rs183176301	0.00436
NM_004646.4(NPHS1):c.43G>C (p.Gly15Arg)	rs73928330	0.00436
NM_005629.4(SLC6A8):c.1768-3C>T	rs150207268	0.00435
NM_024301.5(FKRP):c.235G>A (p.Val79Met)	rs104894683	0.00435
NM_000057.4(BLM):c.410A>G (p.Lys137Arg)	rs28384988	0.00434
NM_000352.6(ABCC8):c.354C>T (p.Val118=)	rs137873871	0.00434
NM_006096.4(NDRG1):c.879G>A (p.Pro293=)	rs2233340	0.00433
NM_000135.4(FANCA):c.903G>T (p.Val301=)	rs56062548	0.00432
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser)	rs2227922	0.00431
NM_000391.4(TPP1):c.1253G>A (p.Arg418Gln)	rs138744051	0.00431
NM_001164508.2(NEB):c.19455G>A (p.Lys6485=)	rs182847302	0.00430
NM_000359.3(TGM1):c.125C>A (p.Ser42Tyr)	rs41295338	0.00428
NM_023036.6(DNAI2):c.747C>T (p.Gly249=)	rs148488355	0.00428
NM_014244.5(ADAMTS2):c.1458C>T (p.Tyr486=)	rs61757478	0.00427
NM_001164508.2(NEB):c.1856A>G (p.Lys619Arg)	rs147305883	0.00426
NM_000094.4(COL7A1):c.1907G>T (p.Gly636Val)	rs116005007	0.00425
NM_000051.4(ATM):c.6437G>C (p.Ser2146Thr)	rs56815840	0.00424
NM_206933.4(USH2A):c.2546G>A (p.Cys849Tyr)	rs111033481	0.00424
NM_000441.2(SLC26A4):c.898A>C (p.Ile300Leu)	rs111033304	0.00423
NM_014363.6(SACS):c.12597A>G (p.Pro4199=)	rs112630127	0.00422
NM_015166.4(MLC1):c.279G>A (p.Ser93=)	rs11568172	0.00422
NM_000359.3(TGM1):c.1113C>T (p.Ser371=)	rs61747601	0.00421
NM_001127671.2(LIFR):c.954C>T (p.Thr318=)	rs61748202	0.00421
NM_001164508.2(NEB):c.9865G>A (p.Gly3289Ser)	rs75639119	0.00421
NM_000092.5(COL4A4):c.4082-8C>T	rs139571413	0.00420
NM_000359.3(TGM1):c.168G>A (p.Ala56=)	rs79251149	0.00420
NM_001126108.2(SLC12A3):c.249G>T (p.Arg83=)	rs76750525	0.00420
NM_033380.3(COL4A5):c.1289C>A (p.Ala430Asp)	rs142883891	0.00420
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg)	rs45549044	0.00420
NM_000382.3(ALDH3A2):c.1270C>T (p.Pro424Ser)	rs61737992	0.00419
NM_014363.6(SACS):c.11688G>A (p.Arg3896=)	rs116791509	0.00417
NM_014363.6(SACS):c.10821C>A (p.Ile3607=)	rs113595574	0.00415
NM_004004.6(GJB2):c.457G>A (p.Val153Ile)	rs111033186	0.00414
NM_152618.3(BBS12):c.355G>A (p.Gly119Ser)	rs77731085	0.00414
NM_000520.6(HEXA):c.759G>A (p.Val253=)	rs117513345	0.00412
NM_001875.5(CPS1):c.3481-8C>T	rs41272669	0.00412
NM_152564.5(VPS13B):c.7152G>A (p.Pro2384=)	rs61753725	0.00412
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu)	rs34997054	0.00411
NM_000271.5(NPC1):c.882-40T>A	rs144469784	0.00410
NM_001142800.2(EYS):c.8429C>T (p.Thr2810Ile)	rs144513453	0.00410
NM_033305.3(VPS13A):c.2037+8C>A	rs41289961	0.00410
NM_000094.4(COL7A1):c.4613G>A (p.Arg1538His)	rs2229824	0.00408
NM_000260.4(MYO7A):c.5835C>T (p.Leu1945=)	rs111033476	0.00408
NM_000527.5(LDLR):c.941-39C>T	rs55792959	0.00407
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr)	rs45503297	0.00407
NM_000170.3(GLDC):c.2113G>A (p.Val705Met)	rs147275962	0.00405
NM_001384474.1(LOXHD1):c.457C>T (p.Arg153Cys)	rs112618498	0.00404
NM_004035.7(ACOX1):c.954A>G (p.Glu318=)	rs16968343	0.00404
NM_012434.5(SLC17A5):c.820-3C>T	rs12201641	0.00403
NM_000360.4(TH):c.16G>A (p.Ala6Thr)	rs74555599	0.00402
NM_001378454.1(ALMS1):c.6464A>G (p.Asp2155Gly)	rs58093963	0.00401
NM_001378454.1(ALMS1):c.7268A>G (p.Asn2423Ser)	rs75145370	0.00401
NM_003742.4(ABCB11):c.2134T>C (p.Leu712=)	rs191649793	0.00401
NM_000053.4(ATP7B):c.3101A>G (p.His1034Arg)	rs74085882	0.00400
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr)	rs151268759	0.00400
NM_024312.5(GNPTAB):c.1626A>G (p.Glu542=)	rs61745799	0.00400
NM_024996.7(GFM1):c.1593C>T (p.Ala531=)	rs114754676	0.00399
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser)	rs28940272	0.00396
NM_000049.4(ASPA):c.245T>C (p.Met82Thr)	rs80099330	0.00394
NM_206933.4(USH2A):c.8458G>A (p.Val2820Ile)	rs59174500	0.00394
NM_001164508.2(NEB):c.17747A>G (p.Lys5916Arg)	rs73967567	0.00393
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)	rs72474224	0.00393
NM_006432.5(NPC2):c.441+1G>A	rs140130028	0.00393
NM_000018.4(ACADVL):c.308A>G (p.Lys103Arg)	rs140566084	0.00391
NM_001378454.1(ALMS1):c.4605A>G (p.Gln1535=)	rs144720929	0.00391
NM_001164508.2(NEB):c.19056G>T (p.Thr6352=)	rs115631125	0.00390
NM_000027.4(AGA):c.965C>T (p.Thr322Ile)	rs56849061	0.00389
NM_001201543.2(FAM161A):c.1133T>G (p.Leu378Arg)	rs187695569	0.00389
NM_001386140.1(MTTP):c.2043G>A (p.Glu681=)	rs145444300	0.00389
NM_000057.4(BLM):c.3128C>A (p.Ala1043Asp)	rs2229035	0.00388
NM_000158.4(GBE1):c.839G>A (p.Gly280Asp)	rs28763902	0.00388
NM_014844.5(TECPR2):c.3275C>T (p.Ser1092Leu)	rs72700618	0.00388
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys)	rs149694033	0.00388
NM_000260.4(MYO7A):c.5866G>A (p.Val1956Ile)	rs142293185	0.00386
NM_001384140.1(PCDH15):c.2625G>A (p.Ser875=)	rs111033516	0.00386
NM_000091.5(COL4A3):c.3258G>A (p.Gly1086=)	rs147085074	0.00385
NM_000352.6(ABCC8):c.2958G>A (p.Ser986=)	rs58820146	0.00381
NM_000152.5(GAA):c.-32-13T>G	rs386834236	0.00380
NM_000022.4(ADA):c.425G>A (p.Arg142Gln)	rs61732239	0.00376
NM_000498.3(CYP11B2):c.89G>A (p.Arg30Gln)	rs6441	0.00374
NM_002529.4(NTRK1):c.16C>T (p.Arg6Trp)	rs201472270	0.00373
NM_001201543.2(FAM161A):c.197C>T (p.Thr66Ile)	rs145199539	0.00372
NM_000492.4(CFTR):c.-812T>G	rs181008242	0.00371
NM_138694.4(PKHD1):c.5125C>T (p.Leu1709Phe)	rs45517932	0.00371
NM_014297.5(ETHE1):c.227-9C>G	rs199921503	0.00367
NM_138413.4(HOGA1):c.700+7C>T	rs57616820	0.00367
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser)	rs148206382	0.00364
NM_001164508.2(NEB):c.1413C>T (p.Phe471=)	rs112958786	0.00363
NM_000053.4(ATP7B):c.3369G>A (p.Pro1123=)	rs61733679	0.00362
NM_000152.5(GAA):c.447G>A (p.Thr149=)	rs2289536	0.00362
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg)	rs1800368	0.00361
NM_000027.4(AGA):c.902T>C (p.Phe301Ser)	rs35916166	0.00360
NM_000198.4(HSD3B2):c.501G>A (p.Ala167=)	rs6207	0.00360
NM_001164508.2(NEB):c.1981C>T (p.Leu661=)	rs146460133	0.00360
NM_000487.6(ARSA):c.1002C>T (p.Ser334=)	rs147027229	0.00358
NM_004004.6(GJB2):c.-6T>A	rs148136545	0.00355
NM_152564.5(VPS13B):c.3243A>G (p.Pro1081=)	rs34961653	0.00355
NM_000531.6(OTC):c.-366A>G	rs191615506	0.00354
NM_000098.3(CPT2):c.1763C>G (p.Ser588Cys)	rs1871748	0.00353
NM_000414.4(HSD17B4):c.666C>G (p.Val222=)	rs150677536	0.00351
NM_001369.3(DNAH5):c.5281C>G (p.Arg1761Gly)	rs148891849	0.00351
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn)	rs112822256	0.00350
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp)	rs17227403	0.00349
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)	rs77931234	0.00347
NM_000709.4(BCKDHA):c.975C>T (p.Leu325=)	rs55940366	0.00346
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)	rs112029032	0.00346
NM_000153.4(GALC):c.1006G>A (p.Val336Met)	rs185073540	0.00345
NM_000156.6(GAMT):c.79T>C (p.Tyr27His)	rs200833152	0.00345
NM_000091.5(COL4A3):c.4893C>T (p.Phe1631=)	rs183218622	0.00344
NM_153676.4(USH1C):c.946G>C (p.Glu316Gln)	rs35336155	0.00344
NM_000094.4(COL7A1):c.54G>C (p.Ala18=)	rs35899847	0.00343
NM_000352.6(ABCC8):c.2556+30C>T	rs76285388	0.00342
NM_000092.5(COL4A4):c.50A>G (p.Lys17Arg)	rs114969026	0.00341
NM_000135.4(FANCA):c.2216C>T (p.Pro739Leu)	rs45441106	0.00341
NM_000243.3(MEFV):c.1467G>A (p.Gln489=)	rs61732424	0.00341
NM_000243.3(MEFV):c.42G>A (p.Glu14=)	rs113314808	0.00340
NM_000243.3(MEFV):c.333G>A (p.Gly111=)	rs61732425	0.00339
NM_001384474.1(LOXHD1):c.6034G>A (p.Glu2012Lys)	rs79045813	0.00339
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly)	rs121909046	0.00335
NM_000135.4(FANCA):c.932T>C (p.Ile311Thr)	rs75501942	0.00334
NM_001164508.2(NEB):c.5555T>G (p.Met1852Arg)	rs144180493	0.00334
NM_001369.3(DNAH5):c.8757G>C (p.Glu2919Asp)	rs115776799	0.00334
NM_001384474.1(LOXHD1):c.1945G>A (p.Asp649Asn)	rs141932807	0.00334
NM_001142800.2(EYS):c.5510G>C (p.Trp1837Ser)	rs199689193	0.00333
NM_000271.5(NPC1):c.3441C>T (p.Ile1147=)	rs116436235	0.00332
NM_001384474.1(LOXHD1):c.1708G>A (p.Asp570Asn)	rs140437150	0.00330
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala)	rs138427376	0.00329
NM_000053.4(ATP7B):c.2175G>A (p.Arg725=)	rs61733684	0.00329
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser)	rs55680026	0.00329
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly)	rs150925674	0.00329
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys)	rs111540787	0.00328
NM_001164508.2(NEB):c.3826C>A (p.Pro1276Thr)	rs34234609	0.00327
NM_014363.6(SACS):c.13717A>C (p.Asn4573His)	rs34382952	0.00326
NM_000135.4(FANCA):c.623C>T (p.Ser208Leu)	rs144420697	0.00325
NM_000260.4(MYO7A):c.1605C>T (p.Asn535=)	rs111033228	0.00325
NM_000271.5(NPC1):c.2882A>G (p.Asn961Ser)	rs34084984	0.00325
NM_000153.4(GALC):c.96G>T (p.Leu32=)	rs113719127	0.00324
NM_001017420.3(ESCO2):c.1647T>C (p.Ile549=)	rs73568217	0.00321
NM_001127671.2(LIFR):c.789A>G (p.Val263=)	rs141925289	0.00321
NM_023036.6(DNAI2):c.468-4G>T	rs146462823	0.00321
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro)	rs1800546	0.00319
NM_000527.5(LDLR):c.67+18C>A	rs17242759	0.00319
NM_000094.4(COL7A1):c.5154+5T>C	rs2854400	0.00317
NM_000527.5(LDLR):c.1920C>T (p.Asn640=)	rs5926	0.00316
NM_000543.5(SMPD1):c.1561C>T (p.Leu521=)	rs147258619	0.00316
NM_001017420.3(ESCO2):c.1076A>C (p.Gln359Pro)	rs57479434	0.00315
NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys)	rs149736764	0.00315
NC_000019.10:g.11089332C>T	rs17249141	0.00314
NM_000070.3(CAPN3):c.1746-20C>G	rs201892814	0.00312
NM_001164508.2(NEB):c.4649A>G (p.Lys1550Arg)	rs114089598	0.00312
NM_001399.5(EDA):c.206G>T (p.Arg69Leu)	rs132630309	0.00312
NM_014244.5(ADAMTS2):c.2751-4G>A	rs112155474	0.00312
NM_152564.5(VPS13B):c.11071G>A (p.Ala3691Thr)	rs142476821	0.00312
NM_033305.3(VPS13A):c.101-7T>C	rs190684534	0.00311
NM_001692.4(ATP6V1B1):c.1394G>A (p.Arg465His)	rs142905621	0.00310
NM_000481.4(AMT):c.-1G>A	rs143841175	0.00309
NM_006493.4(CLN5):c.-87C>T	rs200353554	0.00309
NM_001164508.2(NEB):c.3636C>T (p.Asp1212=)	rs144376972	0.00308
NM_020533.3(MCOLN1):c.782C>T (p.Thr261Met)	rs73003348	0.00308
NM_000536.4(RAG2):c.22G>A (p.Val8Ile)	rs150762709	0.00307
NM_001384474.1(LOXHD1):c.5802C>A (p.Asn1934Lys)	rs61733519	0.00307
NM_001127671.2(LIFR):c.2498-7G>A	rs113078097	0.00306
NM_001360.3(DHCR7):c.1341C>T (p.Asp447=)	rs139721775	0.00305
NM_152564.5(VPS13B):c.7678G>A (p.Glu2560Lys)	rs111751379	0.00304
NM_000057.4(BLM):c.2160C>T (p.Ile720=)	rs28385028	0.00303
NM_017777.4(MKS1):c.213C>G (p.Asp71Glu)	rs142813109	0.00303
NM_000035.4(ALDOB):c.156T>G (p.Thr52=)	rs149671008	0.00302
NM_000235.4(LIPA):c.1113A>G (p.Glu371=)	rs116827211	0.00302
NM_004629.2(FANCG):c.238C>T (p.Leu80=)	rs115131067	0.00301
NM_000271.5(NPC1):c.540C>T (p.Asp180=)	rs143656971	0.00300
NM_005957.5(MTHFR):c.1264G>A (p.Gly422Arg)	rs45571736	0.00300
NM_000481.4(AMT):c.1145G>A (p.Arg382Gln)	rs141246107	0.00299
NM_000203.5(IDUA):c.1345C>A (p.His449Asn)	rs532731688	0.00297
NM_001384474.1(LOXHD1):c.6270G>A (p.Arg2090=)	rs367833904	0.00296
NM_003227.4(TFR2):c.1127C>A (p.Ala376Asp)	rs41303495	0.00296
NM_000128.4(F11):c.1304+12G>A	rs116667976	0.00295
NM_000492.4(CFTR):c.4242+13A>G	rs76179227	0.00295
NM_001875.5(CPS1):c.486T>C (p.Tyr162=)	rs138779023	0.00295
NM_000487.6(ARSA):c.466-7G>C	rs6151414	0.00294
NM_000243.3(MEFV):c.329T>C (p.Leu110Pro)	rs11466018	0.00293
NM_000441.2(SLC26A4):c.849G>C (p.Met283Ile)	rs146348818	0.00293
NM_001142800.2(EYS):c.2500G>A (p.Val834Ile)	rs112464110	0.00293
NM_153676.4(USH1C):c.381G>T (p.Gly127=)	rs41282942	0.00293
NM_000019.4(ACAT1):c.1068T>C (p.Phe356=)	rs139657823	0.00292
NM_000152.5(GAA):c.917C>T (p.Ser306Leu)	rs138097673	0.00292
NM_000271.5(NPC1):c.3477+4A>G	rs114073738	0.00292
NM_001164508.2(NEB):c.5968G>A (p.Glu1990Lys)	rs146310692	0.00291
NM_206933.4(USH2A):c.12093C>T (p.Tyr4031=)	rs55921307	0.00291
NM_000203.5(IDUA):c.346G>A (p.Gly116Arg)	rs148946496	0.00289
NM_000094.4(COL7A1):c.4612C>T (p.Arg1538Cys)	rs149711883	0.00288
NM_000051.4(ATM):c.3993+5G>T	rs3092842	0.00287
NM_000396.4(CTSK):c.675A>G (p.Arg225=)	rs41271965	0.00287
NM_014363.6(SACS):c.3129A>G (p.Ser1043=)	rs148878361	0.00287
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile)	rs148932323	0.00287
NM_201548.5(CERKL):c.66C>G (p.Pro22=)	rs199762900	0.00287
NM_000053.4(ATP7B):c.2355+13T>G	rs139211339	0.00286
NM_000135.4(FANCA):c.3891G>A (p.Lys1297=)	rs17227361	0.00286
NM_000498.3(CYP11B2):c.798C>T (p.Tyr266=)	rs149682756	0.00285
NM_138694.4(PKHD1):c.4920A>G (p.Val1640=)	rs142465959	0.00285
NM_182760.4(SUMF1):c.1077G>A (p.Ser359=)	rs140751492	0.00285
NM_000195.5(HPS1):c.1683C>T (p.Cys561=)	rs112337765	0.00284
NM_000352.6(ABCC8):c.1926C>G (p.Pro642=)	rs75376282	0.00284
NM_000271.5(NPC1):c.1532C>T (p.Thr511Met)	rs13381670	0.00283
NM_001384474.1(LOXHD1):c.1570C>T (p.Arg524Cys)	rs192376005	0.00283
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met)	rs60986317	0.00282
NM_000135.4(FANCA):c.857A>G (p.Gln286Arg)	rs13336566	0.00282
NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val)	rs141641266	0.00282
NM_000260.4(MYO7A):c.905G>A (p.Arg302His)	rs41298135	0.00281
NM_017739.4(POMGNT1):c.1298C>T (p.Thr433Met)	rs146097254	0.00280
NM_000057.4(BLM):c.1928G>A (p.Arg643His)	rs12720097	0.00279
NM_020533.3(MCOLN1):c.16G>T (p.Gly6Cys)	rs61736595	0.00279
NM_000094.4(COL7A1):c.3359G>A (p.Arg1120Lys)	rs2228563	0.00277
NM_001369.3(DNAH5):c.4510G>C (p.Gly1504Arg)	rs143567667	0.00277
NM_000094.4(COL7A1):c.802C>T (p.Pro268Ser)	rs35623035	0.00276
NM_001283009.2(RTEL1):c.301+7C>T	rs200648296	0.00276
NM_000136.3(FANCC):c.584A>T (p.Asp195Val)	rs1800365	0.00275
NM_000154.2(GALK1):c.1107+5G>A	rs201663491	0.00275
NM_006019.4(TCIRG1):c.1249G>A (p.Ala417Thr)	rs140963213	0.00275
NM_206933.4(USH2A):c.10858A>G (p.Ile3620Val)	rs145207584	0.00275
NM_002454.3(MTRR):c.1326C>T (p.Leu442=)	rs144781389	0.00274
NM_003227.4(TFR2):c.1473G>A (p.Glu491=)	rs139178017	0.00274
NM_003982.4(SLC7A7):c.720A>C (p.Ser240=)	rs151261004	0.00274
NM_000359.3(TGM1):c.2405A>T (p.Asp802Val)	rs2228337	0.00273
NM_001142800.2(EYS):c.5629C>T (p.Arg1877Trp)	rs139822086	0.00273
NM_001164508.2(NEB):c.7514C>A (p.Ala2505Glu)	rs35292878	0.00273
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp)	rs141090143	0.00273
NM_001378454.1(ALMS1):c.9886A>G (p.Thr3296Ala)	rs58806616	0.00273
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys)	rs58241708	0.00272
NM_000441.2(SLC26A4):c.2139T>G (p.Ile713Met)	rs143708308	0.00268
NM_002529.4(NTRK1):c.1236C>T (p.Asp412=)	rs147438950	0.00268
NM_000022.4(ADA):c.162G>A (p.Lys54=)	rs45557242	0.00267
NM_000094.4(COL7A1):c.5259C>T (p.Pro1753=)	rs151261530	0.00267
NM_024649.5(BBS1):c.24T>C (p.Asp8=)	rs55848325	0.00267
NM_001386140.1(MTTP):c.-6G>A	rs41275707	0.00266
NM_000092.5(COL4A4):c.5016A>G (p.Glu1672=)	rs34761049	0.00264
NM_002485.5(NBN):c.1222A>G (p.Lys408Glu)	rs34120922	0.00263
NM_003640.5(ELP1):c.286A>G (p.Ser96Gly)	rs35942802	0.00263
NM_000091.5(COL4A3):c.2475G>C (p.Leu825Phe)	rs192027050	0.00262
NM_000137.4(FAH):c.554-20T>G	rs199501793	0.00262
NM_001017420.3(ESCO2):c.764T>C (p.Phe255Ser)	rs141631911	0.00262
NM_024649.5(BBS1):c.831-5C>T	rs56177555	0.00262
NM_000466.3(PEX1):c.2271G>C (p.Leu757Phe)	rs142838522	0.00261
NM_004646.4(NPHS1):c.697A>G (p.Thr233Ala)	rs35238405	0.00261
NM_152564.5(VPS13B):c.9330+9A>G	rs184381851	0.00261
NM_000158.4(GBE1):c.405C>T (p.Leu135=)	rs139882066	0.00259
NM_004937.3(CTNS):c.462-7C>A	rs189632527	0.00259
NM_000391.4(TPP1):c.840G>C (p.Leu280=)	rs140349036	0.00257
NM_001126108.2(SLC12A3):c.307C>T (p.Leu103=)	rs35005216	0.00257
NM_012434.5(SLC17A5):c.553A>G (p.Met185Val)	rs34348416	0.00257
NM_152419.3(HGSNAT):c.63G>A (p.Ala21=)	rs549139396	0.00256
NM_000018.4(ACADVL):c.1839G>A (p.Arg613=)	rs79125791	0.00254
NM_000153.4(GALC):c.-463C>T	rs181956126	0.00254
NM_001283009.2(RTEL1):c.3823-5C>G	rs141522376	0.00252
NM_000035.4(ALDOB):c.799+6G>A	rs141888548	0.00251
NM_000487.6(ARSA):c.659C>T (p.Pro220Leu)	rs201251634	0.00251
NM_003742.4(ABCB11):c.2943C>T (p.Tyr981=)	rs145720664	0.00251
NM_000243.3(MEFV):c.97G>T (p.Val33Leu)	rs11466016	0.00250
NM_000260.4(MYO7A):c.1554+8G>A	rs111033227	0.00249
NM_000128.4(F11):c.453C>T (p.Tyr151=)	rs34807019	0.00248
NM_000243.3(MEFV):c.1587+18C>T	rs11466030	0.00248
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile)	rs28385141	0.00245
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro)	rs200302125	0.00245
NM_000092.5(COL4A4):c.4152G>A (p.Ala1384=)	rs75398993	0.00245
NM_000487.6(ARSA):c.1447G>A (p.Glu483Lys)	rs148352371	0.00245
NM_001360.3(DHCR7):c.399C>T (p.Ala133=)	rs147424205	0.00245
NM_001365088.1(SLC12A6):c.3042+8A>G	rs186141509	0.00245
NM_001378454.1(ALMS1):c.9822C>G (p.Thr3274=)	rs201446579	0.00245
NM_014844.5(TECPR2):c.1470C>T (p.Ser490=)	rs149584733	0.00245
NM_020320.5(RARS2):c.-8A>C	rs28381459	0.00245
NM_206933.4(USH2A):c.13404A>G (p.Arg4468=)	rs146994147	0.00245
NM_000289.6(PFKM):c.1338G>A (p.Gly446=)	rs150378513	0.00243
NM_031885.5(BBS2):c.1422G>A (p.Ser474=)	rs117033008	0.00243
NM_138694.4(PKHD1):c.1950G>A (p.Arg650=)	rs143226202	0.00243
NM_152564.5(VPS13B):c.2643A>T (p.Lys881Asn)	rs148777544	0.00243
NM_000051.4(ATM):c.2362A>C (p.Ser788Arg)	rs641252	0.00242
NM_000170.3(GLDC):c.1331G>A (p.Cys444Tyr)	rs142099123	0.00242
NM_001164508.2(NEB):c.4980C>T (p.Pro1660=)	rs142074817	0.00242
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln)	rs148584617	0.00241
NM_002435.3(MPI):c.303C>T (p.Leu101=)	rs139228075	0.00240
NM_000359.3(TGM1):c.429C>T (p.Arg143=)	rs144989372	0.00239
NM_000154.2(GALK1):c.1119C>T (p.Gly373=)	rs73997615	0.00237
NM_000528.4(MAN2B1):c.743C>T (p.Pro248Leu)	rs117843968	0.00237
NM_001164508.2(NEB):c.4272G>C (p.Thr1424=)	rs35654397	0.00236
NM_002529.4(NTRK1):c.612G>A (p.Ser204=)	rs114320051	0.00236
NM_003640.5(ELP1):c.923T>C (p.Leu308Pro)	rs78135392	0.00236
NM_014363.6(SACS):c.10611A>G (p.Ala3537=)	rs137856939	0.00236
NM_001352514.2(HLCS):c.1074G>A (p.Thr358=)	rs116985497	0.00235
NM_003982.4(SLC7A7):c.1380C>G (p.Ile460Met)	rs139415285	0.00235
NM_000170.3(GLDC):c.1229G>A (p.Arg410Lys)	rs144090917	0.00234
NM_000255.4(MMUT):c.205A>G (p.Ile69Val)	rs115923556	0.00234
NM_153676.4(USH1C):c.403G>A (p.Val135Ile)	rs145013633	0.00234
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=)	rs148000219	0.00234
NM_000030.3(AGXT):c.590G>A (p.Arg197Gln)	rs34664134	0.00233
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val)	rs139570786	0.00232
NM_000030.3(AGXT):c.557C>T (p.Ala186Val)	rs117195882	0.00231
NM_000126.4(ETFA):c.186+7A>G	rs184587113	0.00231
NM_000153.4(GALC):c.997G>A (p.Gly333Arg)	rs190921137	0.00231
NM_000282.4(PCCA):c.145C>T (p.Arg49Cys)	rs148651921	0.00231
NM_020533.3(MCOLN1):c.1272C>T (p.Ser424=)	rs147754092	0.00231
NM_000046.5(ARSB):c.317G>A (p.Arg106His)	rs150087888	0.00230
NM_000048.4(ASL):c.162C>T (p.Leu54=)	rs140221164	0.00230
NM_000057.4(BLM):c.2075-14T>C	rs28385026	0.00230
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser)	rs139235751	0.00230
NM_000199.5(SGSH):c.411G>A (p.Ala137=)	rs142557761	0.00230
NM_000543.5(SMPD1):c.441G>A (p.Val147=)	rs148944108	0.00230
NM_001875.5(CPS1):c.3033G>C (p.Val1011=)	rs35374255	0.00230
NM_138694.4(PKHD1):c.2853C>T (p.Thr951=)	rs139815340	0.00230
NM_000153.4(GALC):c.334A>G (p.Thr112Ala)	rs147313927	0.00229
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=)	rs112751577	0.00228
NM_002435.3(MPI):c.414G>A (p.Met138Ile)	rs150217523	0.00227
NM_000282.4(PCCA):c.1236A>G (p.Pro412=)	rs41281120	0.00226
NM_000784.4(CYP27A1):c.243G>A (p.Leu81=)	rs75897848	0.00225
NM_000158.4(GBE1):c.1134T>G (p.Ser378Arg)	rs36099971	0.00224
NM_000260.4(MYO7A):c.4992C>T (p.Thr1664=)	rs181573957	0.00224
NM_000016.6(ACADM):c.469-9A>G	rs181322317	0.00223
NM_000642.3(AGL):c.2522C>T (p.Ser841Phe)	rs150441555	0.00223
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala)	rs147222255	0.00223
NM_003640.5(ELP1):c.2543C>A (p.Thr848Asn)	rs10979599	0.00222
NM_000466.3(PEX1):c.330C>G (p.Pro110=)	rs71560821	0.00220
NM_000019.4(ACAT1):c.60G>C (p.Arg20=)	rs77311724	0.00219
NM_004937.3(CTNS):c.116C>T (p.Ser39Leu)	rs144751390	0.00219
NM_000053.4(ATP7B):c.2955C>T (p.Cys985=)	rs116587608	0.00218
NM_000098.3(CPT2):c.1806T>C (p.Phe602=)	rs147953465	0.00218
NM_001079802.2(FKTN):c.167G>A (p.Arg56His)	rs146951171	0.00218
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=)	rs137932254	0.00218
NM_001384474.1(LOXHD1):c.5689C>T (p.Leu1897=)	rs202043044	0.00218
NM_012434.5(SLC17A5):c.1324G>A (p.Val442Ile)	rs74360232	0.00218
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala)	rs144942544	0.00217
NM_000528.4(MAN2B1):c.1068C>G (p.Pro356=)	rs117880912	0.00217
NM_005957.5(MTHFR):c.348C>T (p.Ala116=)	rs144921426	0.00217
NM_201525.4(ADGRG1):c.174C>T (p.Ile58=)	rs140963173	0.00217
NM_000466.3(PEX1):c.2442C>T (p.Phe814=)	rs145430946	0.00216
NM_006118.4(HAX1):c.207A>T (p.Pro69=)	rs142150013	0.00216
NM_001033855.3(DCLRE1C):c.2001A>G (p.Leu667=)	rs61749163	0.00215
NM_000170.3(GLDC):c.2487C>T (p.Ala829=)	rs141806715	0.00213
NM_001003722.2(GLE1):c.433-15A>C	rs752897261	0.00213
NM_003227.4(TFR2):c.1995+9G>C	rs41295921	0.00213
NM_033305.3(VPS13A):c.4642G>A (p.Glu1548Lys)	rs41289967	0.00213
NM_152564.5(VPS13B):c.5501C>T (p.Ser1834Leu)	rs144257406	0.00213
NM_000642.3(AGL):c.2390A>G (p.Asn797Ser)	rs149210307	0.00212
NM_003227.4(TFR2):c.1364G>A (p.Arg455Gln)	rs41303501	0.00212
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile)	rs61729954	0.00212
NM_000091.5(COL4A3):c.4665G>A (p.Ala1555=)	rs200858199	0.00210
NM_000094.4(COL7A1):c.5988C>T (p.Ile1996=)	rs146901730	0.00210
NM_153006.3(NAGS):c.1281C>G (p.Ala427=)	rs371886833	0.00210
NM_000057.4(BLM):c.4077-10C>T	rs145310008	0.00209
NM_005609.4(PYGM):c.577G>T (p.Ala193Ser)	rs77656150	0.00209
NM_000170.3(GLDC):c.1156-7C>G	rs150095531	0.00208
NM_006493.4(CLN5):c.-99G>C	rs202118652	0.00208
NM_033305.3(VPS13A):c.3356G>A (p.Gly1119Glu)	rs144358567	0.00207
NM_001164277.2(SLC37A4):c.467C>T (p.Ala156Val)	rs201036248	0.00206
NM_001369.3(DNAH5):c.624C>T (p.Asn208=)	rs139640247	0.00206
NM_002485.5(NBN):c.643C>T (p.Arg215Trp)	rs34767364	0.00206
NM_001876.4(CPT1A):c.2198A>G (p.Asn733Ser)	rs151271754	0.00205
NM_004035.7(ACOX1):c.804G>A (p.Pro268=)	rs114057990	0.00205
NM_014140.4(SMARCAL1):c.1271A>T (p.Asp424Val)	rs2066520	0.00205
NM_023036.6(DNAI2):c.1408G>A (p.Gly470Ser)	rs115299472	0.00205
NM_001164508.2(NEB):c.17497G>A (p.Val5833Ile)	rs149881695	0.00204
NM_000170.3(GLDC):c.2748G>A (p.Leu916=)	rs139982267	0.00203
NM_001384474.1(LOXHD1):c.4822G>A (p.Val1608Ile)	rs140042576	0.00203
NM_003640.5(ELP1):c.1886G>A (p.Arg629His)	rs148378319	0.00203
NM_000057.4(BLM):c.254G>C (p.Arg85Thr)	rs141503266	0.00201
NM_001142800.2(EYS):c.-337T>A	rs145321084	0.00201
NM_001378454.1(ALMS1):c.1838G>A (p.Gly613Asp)	rs148040591	0.00201
NM_006096.4(NDRG1):c.331A>C (p.Met111Leu)	rs2233328	0.00201
NM_206933.4(USH2A):c.879T>G (p.Leu293=)	rs3767698	0.00201
NM_000051.4(ATM):c.162T>C (p.Tyr54=)	rs3218690	0.00200
NM_000154.2(GALK1):c.857G>A (p.Arg286Gln)	rs145641205	0.00200
NM_000170.3(GLDC):c.2683A>G (p.Met895Val)	rs141152043	0.00200
NM_000383.4(AIRE):c.1199C>T (p.Pro400Leu)	rs142366324	0.00200
NM_000498.3(CYP11B2):c.679C>T (p.Leu227=)	rs139346202	0.00200
NM_001164508.2(NEB):c.3593A>G (p.Asn1198Ser)	rs146616621	0.00200
NM_000153.4(GALC):c.525C>T (p.Val175=)	rs181066089	0.00199
NM_001378454.1(ALMS1):c.3311G>A (p.Gly1104Asp)	rs201074268	0.00199
NM_182760.4(SUMF1):c.642G>A (p.Ala214=)	rs141017221	0.00199
NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met)	rs78592085	0.00198
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val)	rs36061856	0.00198
NM_138694.4(PKHD1):c.652G>A (p.Glu218Lys)	rs149522482	0.00198
NM_153006.3(NAGS):c.374C>A (p.Thr125Lys)	rs185863881	0.00198
NM_000135.4(FANCA):c.1830A>G (p.Ala610=)	rs1800338	0.00197
NM_000260.4(MYO7A):c.3750+9G>A	rs111033252	0.00197
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr)	rs146451611	0.00197
NM_033305.3(VPS13A):c.1758T>C (p.Ala586=)	rs149037185	0.00197
NM_024996.7(GFM1):c.960A>C (p.Pro320=)	rs145970222	0.00196
NM_001378454.1(ALMS1):c.1453A>G (p.Ile485Val)	rs73945001	0.00195
NM_000243.3(MEFV):c.1173T>C (p.Asp391=)	rs146077729	0.00194
NM_152564.5(VPS13B):c.11619G>C (p.Val3873=)	rs113454700	0.00194
NM_153717.3(EVC):c.550G>A (p.Asp184Asn)	rs41269549	0.00194
NM_000152.5(GAA):c.676C>G (p.Leu226Val)	rs113085339	0.00193
NM_000195.5(HPS1):c.80G>A (p.Arg27Gln)	rs116143727	0.00193
NM_000349.3(STAR):c.361C>T (p.Arg121Trp)	rs34908868	0.00193
NM_006261.5(PROP1):c.425C>T (p.Ala142Val)	rs143790367	0.00193
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile)	rs148399850	0.00192
NM_001142800.2(EYS):c.4985A>T (p.Asp1662Val)	rs147641443	0.00192
NM_000016.6(ACADM):c.468+71T>C	rs571856182	0.00191
NM_001164508.2(NEB):c.914A>G (p.Asp305Gly)	rs36105240	0.00190
NM_002454.3(MTRR):c.739C>T (p.Pro247Ser)	rs114053717	0.00190
NM_033305.3(VPS13A):c.5831-8T>C	rs113702270	0.00190
NM_206933.4(USH2A):c.3621C>T (p.Ile1207=)	rs146462407	0.00190
NM_001360.3(DHCR7):c.321+10C>T	rs377108406	0.00189
NM_005609.4(PYGM):c.330C>T (p.Asp110=)	rs114742918	0.00189
NM_000071.3(CBS):c.954+8G>A	rs76292057	0.00188
NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr)	rs17227396	0.00188
NM_000383.4(AIRE):c.1065C>T (p.Pro355=)	rs201551372	0.00188
NM_000466.3(PEX1):c.3810T>A (p.Ser1270Arg)	rs139054881	0.00188
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)	rs113624356	0.00188
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys)	rs141859946	0.00188
NM_005609.4(PYGM):c.660G>A (p.Gln220=)	rs142234258	0.00186
NM_000051.4(ATM):c.1229T>C (p.Val410Ala)	rs56128736	0.00185
NM_001126108.2(SLC12A3):c.1980C>T (p.Asp660=)	rs201519016	0.00185
NM_001369.3(DNAH5):c.10323G>A (p.Met3441Ile)	rs149133845	0.00185
NM_024996.7(GFM1):c.2190C>T (p.Asp730=)	rs149049400	0.00185
NM_001369.3(DNAH5):c.3514C>A (p.Gln1172Lys)	rs141168110	0.00184
NM_003227.4(TFR2):c.2278G>A (p.Gly760Arg)	rs144665594	0.00184
NM_153006.3(NAGS):c.1368C>G (p.Ser456=)	rs147700427	0.00184
NM_000441.2(SLC26A4):c.2326C>T (p.Arg776Cys)	rs111033255	0.00183
NM_032520.5(GNPTG):c.741+5C>T	rs201263537	0.00183
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln)	rs137852769	0.00182
NM_001164508.2(NEB):c.21685G>C (p.Asp7229His)	rs201979610	0.00182
NM_002485.5(NBN):c.283G>A (p.Asp95Asn)	rs61753720	0.00182
NM_006019.4(TCIRG1):c.1800C>T (p.Ala600=)	rs145144233	0.00182
NM_003659.4(AGPS):c.1233+5A>G	rs370777451	0.00181
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly)	rs141093638	0.00181
NM_000027.4(AGA):c.623-7C>T	rs201125635	0.00180
NM_001369.3(DNAH5):c.9941G>A (p.Arg3314His)	rs143858741	0.00180
NM_033305.3(VPS13A):c.4007A>T (p.His1336Leu)	rs142058362	0.00180
NM_182760.4(SUMF1):c.664G>C (p.Gly222Arg)	rs137917233	0.00180
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr)	rs140992177	0.00179
NM_000018.4(ACADVL):c.1828-4C>G	rs184559206	0.00178
NM_000170.3(GLDC):c.1927-9A>G	rs41281773	0.00178
NM_000330.4(RS1):c.548C>T (p.Thr183Ile)	rs150172233	0.00178
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter)	rs116987552	0.00178
NM_005957.5(MTHFR):c.1555C>T (p.Arg519Cys)	rs45496998	0.00178
NM_014244.5(ADAMTS2):c.1488C>T (p.Phe496=)	rs147438064	0.00178
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln)	rs149318176	0.00178
NM_152564.5(VPS13B):c.3866C>G (p.Thr1289Ser)	rs145569846	0.00178
NM_000263.4(NAGLU):c.1860C>T (p.Ser620=)	rs151013014	0.00177
NM_001164508.2(NEB):c.23477A>G (p.Asn7826Ser)	rs143602832	0.00177
NM_001201543.2(FAM161A):c.1959G>T (p.Glu653Asp)	rs201052209	0.00176
NM_001369.3(DNAH5):c.9244C>A (p.Leu3082Ile)	rs147372600	0.00176
NM_153717.3(EVC):c.934G>A (p.Asp312Asn)	rs115275195	0.00176
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile)	rs41303255	0.00176
NM_000528.4(MAN2B1):c.609G>T (p.Glu203Asp)	rs139290127	0.00175
NM_001126108.2(SLC12A3):c.1561A>G (p.Ile521Val)	rs147046379	0.00175
NM_005609.4(PYGM):c.924C>T (p.Ile308=)	rs139726186	0.00175
NM_000349.3(STAR):c.687G>A (p.Pro229=)	rs35852516	0.00174
NM_017777.4(MKS1):c.1388G>A (p.Arg463Gln)	rs201619500	0.00174
NM_000154.2(GALK1):c.934C>T (p.Arg312Cys)	rs201972845	0.00173
NM_000182.5(HADHA):c.2060T>C (p.Met687Thr)	rs149632783	0.00173
NM_000349.3(STAR):c.141G>A (p.Thr47=)	rs147318238	0.00173
NM_000352.6(ABCC8):c.945C>T (p.Ala315=)	rs138521721	0.00173
NM_001384474.1(LOXHD1):c.3090G>A (p.Thr1030=)	rs113994614	0.00173
NM_000199.5(SGSH):c.1283G>A (p.Arg428His)	rs144862290	0.00172
NM_000532.5(PCCB):c.49C>A (p.Leu17Met)	rs200185747	0.00172
NM_001369.3(DNAH5):c.3734G>A (p.Arg1245His)	rs77939839	0.00172
NM_033305.3(VPS13A):c.7457T>C (p.Ile2486Thr)	rs141138349	0.00172
NM_000466.3(PEX1):c.637C>T (p.Leu213Phe)	rs141798874	0.00171
NM_001164508.2(NEB):c.21720C>T (p.Tyr7240=)	rs34718443	0.00171
NM_033305.3(VPS13A):c.3078T>G (p.Thr1026=)	rs141835897	0.00171
NM_014363.6(SACS):c.2988A>G (p.Leu996=)	rs111846884	0.00170
NM_152564.5(VPS13B):c.10052A>T (p.Asn3351Ile)	rs111353525	0.00170
NM_206933.4(USH2A):c.13709G>A (p.Arg4570His)	rs730254	0.00170
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg)	rs1800059	0.00169
NM_001384474.1(LOXHD1):c.5313C>T (p.Gly1771=)	rs373924055	0.00168
NM_014363.6(SACS):c.10274A>G (p.Lys3425Arg)	rs147317123	0.00168
NM_000520.6(HEXA):c.1146+8G>A	rs201453018	0.00167
NM_004035.7(ACOX1):c.497A>G (p.Asn166Ser)	rs145056278	0.00167
NM_013339.4(ALG6):c.1398A>T (p.Leu466=)	rs140158304	0.00167
NM_022132.5(MCCC2):c.1217-7C>G	rs148369119	0.00167
NM_206933.4(USH2A):c.3648C>T (p.Tyr1216=)	rs147947402	0.00167
NM_000051.4(ATM):c.7788+8G>T	rs112775908	0.00166
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser)	rs146077918	0.00166
NM_000203.5(IDUA):c.667G>A (p.Asp223Asn)	rs183347428	0.00166
NM_000441.2(SLC26A4):c.1069G>A (p.Ala357Thr)	rs145467740	0.00166
NM_002529.4(NTRK1):c.157G>C (p.Asp53His)	rs200815412	0.00166
NM_000151.4(G6PC1):c.610G>T (p.Ala204Ser)	rs201961848	0.00164
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His)	rs45629132	0.00164
NM_000018.4(ACADVL):c.1678+23C>T	rs147546456	0.00163
NM_000057.4(BLM):c.2268A>G (p.Lys756=)	rs146013879	0.00163
NM_000108.5(DLD):c.826A>T (p.Thr276Ser)	rs148873419	0.00163
NM_001370658.1(BTD):c.202C>G (p.Gln68Glu)	rs151071780	0.00163
NM_153717.3(EVC):c.1500G>A (p.Met500Ile)	rs149898884	0.00163
NM_000071.3(CBS):c.1059G>A (p.Thr353=)	rs61735859	0.00162
NM_000532.5(PCCB):c.1490C>T (p.Ala497Val)	rs142403318	0.00162
NM_001164508.2(NEB):c.9071C>T (p.Ala3024Val)	rs143933602	0.00162
NM_001386140.1(MTTP):c.419A>G (p.Asn140Ser)	rs61733140	0.00162
NM_153676.4(USH1C):c.674+4G>A	rs202095395	0.00162
NM_023036.6(DNAI2):c.1660G>A (p.Asp554Asn)	rs117932646	0.00161
NM_000103.4(CYP19A1):c.963C>G (p.Leu321=)	rs59359360	0.00160
NM_000498.3(CYP11B2):c.182A>T (p.Tyr61Phe)	rs147109119	0.00160
NM_000528.4(MAN2B1):c.2283C>T (p.Pro761=)	rs138358081	0.00160
NM_001384474.1(LOXHD1):c.1617G>A (p.Met539Ile)	rs143142227	0.00160
NM_005609.4(PYGM):c.1888G>A (p.Val630Met)	rs115347245	0.00160
NM_005609.4(PYGM):c.1924C>T (p.Arg642Cys)	rs116180923	0.00160
NM_001126108.2(SLC12A3):c.965C>T (p.Ala322Val)	rs142679083	0.00159
NM_024685.4(BBS10):c.1736A>G (p.Lys579Arg)	rs141521925	0.00159
NM_138694.4(PKHD1):c.5100C>T (p.Thr1700=)	rs143717242	0.00159
NM_000284.4(PDHA1):c.798A>G (p.Thr266=)	rs35752213	0.00158
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln)	rs150555106	0.00158
NM_001164508.2(NEB):c.9181A>T (p.Met3061Leu)	rs143473183	0.00158
NM_001369.3(DNAH5):c.1206T>A (p.Asn402Lys)	rs140782270	0.00158
NM_001369.3(DNAH5):c.1356G>A (p.Lys452=)	rs144748846	0.00157
NM_005609.4(PYGM):c.1237A>T (p.Asn413Tyr)	rs142054672	0.00157
NM_000255.4(MMUT):c.1125G>A (p.Met375Ile)	rs148091558	0.00156
NM_001164508.2(NEB):c.19377C>T (p.Asp6459=)	rs187211085	0.00156
NM_012144.4(DNAI1):c.1902C>T (p.His634=)	rs139197229	0.00156
NM_000466.3(PEX1):c.1011G>A (p.Lys337=)	rs142018583	0.00155
NM_001003722.2(GLE1):c.1393T>A (p.Ser465Thr)	rs141709685	0.00155
NM_000136.3(FANCC):c.840G>A (p.Ser280=)	rs34671520	0.00154
NM_000527.5(LDLR):c.1706-10G>A	rs17248882	0.00154
NM_000532.5(PCCB):c.774C>G (p.His258Gln)	rs141615209	0.00154
NM_001370658.1(BTD):c.201C>T (p.Asn67=)	rs147057169	0.00154
NM_000128.4(F11):c.1305-9G>T	rs4253426	0.00153
NM_000527.5(LDLR):c.498C>T (p.Ala166=)	rs10417394	0.00153
NM_201548.5(CERKL):c.820+9G>A	rs189638090	0.00153
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met)	rs41292782	0.00151
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser)	rs181250704	0.00151
NM_001875.5(CPS1):c.1630A>T (p.Thr544Ser)	rs144230667	0.00151
NM_004646.4(NPHS1):c.2398C>T (p.Arg800Cys)	rs114896482	0.00151
NM_012203.2(GRHPR):c.512G>A (p.Arg171His)	rs200106110	0.00151
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=)	rs151125564	0.00150
NM_000543.5(SMPD1):c.1589G>C (p.Gly530Ala)	rs35122256	0.00150
NM_024301.5(FKRP):c.1177G>A (p.Val393Ile)	rs140679502	0.00150
NM_000359.3(TGM1):c.61A>G (p.Thr21Ala)	rs140542428	0.00149
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys)	rs199573929	0.00149
NM_001384140.1(PCDH15):c.3018G>T (p.Val1006=)	rs41307518	0.00149
NM_001384474.1(LOXHD1):c.5023C>T (p.Arg1675Cys)	rs201060702	0.00149
NM_014363.6(SACS):c.810T>G (p.Phe270Leu)	rs116907814	0.00149
NM_000492.4(CFTR):c.2820T>G (p.Thr940=)	rs60887846	0.00148
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)	rs28940579	0.00147
NM_001164508.2(NEB):c.12770G>A (p.Arg4257His)	rs576918934	0.00147
NM_015627.3(LDLRAP1):c.605C>A (p.Ser202Tyr)	rs121908326	0.00147
NM_001126108.2(SLC12A3):c.1392C>A (p.Ala464=)	rs118121751	0.00146
NM_001164508.2(NEB):c.7126G>C (p.Val2376Leu)	rs141155976	0.00146
NM_001369.3(DNAH5):c.8845C>G (p.Gln2949Glu)	rs147688221	0.00146
NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg)	rs149781976	0.00146
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile)	rs72552259	0.00145
NM_000156.6(GAMT):c.392-7C>T	rs192416474	0.00145
NM_000466.3(PEX1):c.130-9T>C	rs377337949	0.00145
NM_001164508.2(NEB):c.22878C>A (p.Ala7626=)	rs185574478	0.00145
NM_001201543.2(FAM161A):c.2064T>C (p.Ile688=)	rs138464813	0.00145
NM_001384474.1(LOXHD1):c.6099C>T (p.Asn2033=)	rs146200756	0.00145
NM_002485.5(NBN):c.511A>G (p.Ile171Val)	rs61754966	0.00145
NM_005957.5(MTHFR):c.1761C>T (p.Ala587=)	rs115049252	0.00145
NM_138694.4(PKHD1):c.7307C>T (p.Thr2436Ile)	rs147851214	0.00145
NM_206933.4(USH2A):c.486-15C>T	rs114194722	0.00145
NM_006019.4(TCIRG1):c.482C>T (p.Pro161Leu)	rs34227834	0.00144
NM_152564.5(VPS13B):c.2760A>G (p.Leu920=)	rs138661755	0.00144
NM_001126108.2(SLC12A3):c.93C>T (p.Pro31=)	rs34055681	0.00143
NM_004004.6(GJB2):c.380G>A (p.Arg127His)	rs111033196	0.00143
NM_000027.4(AGA):c.303A>T (p.Ala101=)	rs142449515	0.00142
NM_000035.4(ALDOB):c.906T>C (p.Tyr302=)	rs138866018	0.00142
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=)	rs145798966	0.00142
NM_000478.6(ALPL):c.859T>C (p.Leu287=)	rs141742288	0.00141
NM_001126108.2(SLC12A3):c.2190C>T (p.Leu730=)	rs150692587	0.00141
NM_004937.3(CTNS):c.327C>T (p.Thr109=)	rs150554216	0.00141
NM_000235.4(LIPA):c.754A>T (p.Ile252Leu)	rs147493628	0.00140
NM_000359.3(TGM1):c.1298+9G>A	rs201015655	0.00140
NM_000466.3(PEX1):c.1797A>G (p.Gly599=)	rs76986636	0.00140
NM_001164508.2(NEB):c.19626T>C (p.Asp6542=)	rs190336010	0.00140
NM_001164508.2(NEB):c.23776C>T (p.Pro7926Ser)	rs193224180	0.00140
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu)	rs111033218	0.00140
NM_138694.4(PKHD1):c.11338C>T (p.Pro3780Ser)	rs41273722	0.00140
NM_000203.5(IDUA):c.493+10C>T	rs200000194	0.00139
NM_001369.3(DNAH5):c.7998G>T (p.Glu2666Asp)	rs148720124	0.00139
NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe)	rs144590904	0.00139
NM_052845.4(MMAB):c.624C>T (p.Asn208=)	rs146687452	0.00139
NM_000094.4(COL7A1):c.3889G>A (p.Glu1297Lys)	rs149881350	0.00138
NM_000159.4(GCDH):c.1011A>G (p.Ala337=)	rs2229460	0.00138
NM_000260.4(MYO7A):c.510G>A (p.Leu170=)	rs34477144	0.00138
NM_000492.4(CFTR):c.4243-5C>T	rs114402068	0.00138
NM_000527.5(LDLR):c.1194C>T (p.Ile398=)	rs13306498	0.00138
NM_001384474.1(LOXHD1):c.3024C>T (p.Val1008=)	rs370616818	0.00138
NM_000135.4(FANCA):c.2977C>A (p.Gln993Lys)	rs140823801	0.00137
NM_000137.4(FAH):c.1098G>A (p.Ser366=)	rs35033541	0.00137
NM_000489.6(ATRX):c.3541G>C (p.Val1181Leu)	rs61758732	0.00137
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu)	rs142526715	0.00137
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)	rs80338902	0.00137
NM_005726.6(TSFM):c.856C>T (p.Gln286Ter)	rs201754030	0.00136
NM_000053.4(ATP7B):c.1278C>T (p.Val426=)	rs143556945	0.00135
NM_138694.4(PKHD1):c.3537T>C (p.Asn1179=)	rs141574387	0.00135
NM_172250.3(MMAA):c.102C>T (p.Leu34=)	rs146372922	0.00135
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys)	rs1800073	0.00134
NM_001164508.2(NEB):c.1206C>T (p.Cys402=)	rs199695976	0.00134
NM_005957.5(MTHFR):c.708C>T (p.Phe236=)	rs34279942	0.00134
NM_000051.4(ATM):c.998C>T (p.Ser333Phe)	rs28904919	0.00133
NM_000080.4(CHRNE):c.1416C>T (p.Leu472=)	rs145456588	0.00133
NM_000137.4(FAH):c.961-17G>A	rs372657388	0.00133
NM_000151.4(G6PC1):c.-45G>A	rs367816430	0.00133
NM_000237.3(LPL):c.1136C>T (p.Thr379Ile)	rs76708715	0.00133
NM_000243.3(MEFV):c.986G>A (p.Arg329His)	rs104895112	0.00133
NM_000441.2(SLC26A4):c.964A>G (p.Asn322Asp)	rs143002265	0.00133
NM_000536.4(RAG2):c.1095T>C (p.Ser365=)	rs140519815	0.00133
NM_002435.3(MPI):c.1049C>T (p.Thr350Met)	rs116933453	0.00133
NM_000528.4(MAN2B1):c.1822G>A (p.Glu608Lys)	rs145062583	0.00132
NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys)	rs141212446	0.00132
NM_002435.3(MPI):c.10C>T (p.Pro4Ser)	rs143982014	0.00132
NM_133259.4(LRPPRC):c.64C>G (p.Leu22Val)	rs181626399	0.00132
NM_000027.4(AGA):c.10A>C (p.Lys4Gln)	rs149092606	0.00131
NM_001164508.2(NEB):c.25035C>T (p.Asp8345=)	rs201825451	0.00131
NM_001875.5(CPS1):c.4252C>T (p.Pro1418Ser)	rs150966847	0.00131
NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe)	rs142553916	0.00131
NM_014140.4(SMARCAL1):c.2528+5G>C	rs145908212	0.00131
NM_012203.2(GRHPR):c.286C>T (p.Arg96Cys)	rs78920863	0.00130
NM_001164508.2(NEB):c.3623T>C (p.Ile1208Thr)	rs201141958	0.00129
NM_014140.4(SMARCAL1):c.1196C>T (p.Thr399Met)	rs139872089	0.00129
NM_000051.4(ATM):c.1066-6T>G	rs201686625	0.00128
NM_014244.5(ADAMTS2):c.139+4G>A	rs1023653032	0.00128
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg)	rs11212587	0.00127
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu)	rs142551229	0.00127
NM_000349.3(STAR):c.504C>T (p.His168=)	rs147138315	0.00127
NM_130849.4(SLC39A4):c.1743C>T (p.Val581=)	rs144252108	0.00127
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg)	rs140781259	0.00126
NM_000158.4(GBE1):c.1521T>C (p.Thr507=)	rs372821643	0.00126
NM_000243.3(MEFV):c.1610+10G>T	rs11466033	0.00126
NM_000051.4(ATM):c.4473C>T (p.Phe1491=)	rs4988008	0.00125
NM_138694.4(PKHD1):c.2348G>A (p.Arg783Gln)	rs185941281	0.00125
NM_000466.3(PEX1):c.3426C>T (p.Thr1142=)	rs143220470	0.00124
NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr)	rs146384562	0.00124
NM_001142800.2(EYS):c.4554A>C (p.Thr1518=)	rs772339340	0.00124
NM_024996.7(GFM1):c.690-5C>G	rs201685981	0.00124
NM_001164508.2(NEB):c.24874-8C>T	rs200902944	0.00123
NM_001384474.1(LOXHD1):c.2914G>A (p.Glu972Lys)	rs367630521	0.00123
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val)	rs141373204	0.00123
NM_006261.5(PROP1):c.471C>T (p.Tyr157=)	rs145883811	0.00123
NM_015506.3(MMACHC):c.332G>A (p.Arg111Gln)	rs200300254	0.00123
NR_003051.4(RMRP):n.72A>G	rs199476103	0.00123
NM_000057.4(BLM):c.3849G>A (p.Gln1283=)	rs140524886	0.00122
NM_000271.5(NPC1):c.612C>T (p.Thr204=)	rs151084683	0.00122
NM_001164508.2(NEB):c.12640-4A>G	rs549888246	0.00122
NM_006432.5(NPC2):c.88G>A (p.Val30Met)	rs151220873	0.00122
NM_054012.4(ASS1):c.1101G>A (p.Leu367=)	rs139031154	0.00122
NM_000091.5(COL4A3):c.3939G>A (p.Gly1313=)	rs141552752	0.00121
NM_000532.5(PCCB):c.138G>C (p.Ala46=)	rs145075817	0.00121
NM_003227.4(TFR2):c.2172A>G (p.Pro724=)	rs141140309	0.00121
NM_004646.4(NPHS1):c.1339G>A (p.Glu447Lys)	rs28939695	0.00121
NM_022132.5(MCCC2):c.450G>C (p.Val150=)	rs151098534	0.00121
NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys)	rs61754109	0.00121
NM_000016.6(ACADM):c.678A>G (p.Ala226=)	rs2229249	0.00120
NM_000246.4(CIITA):c.1461C>G (p.Ile487Met)	rs141202424	0.00120
NM_016955.4(SEPSECS):c.780A>G (p.Ser260=)	rs61747281	0.00120
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu)	rs118169528	0.00119
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val)	rs75789129	0.00119
NM_001164508.2(NEB):c.12C>T (p.Asp4=)	rs117178114	0.00119
NM_001378454.1(ALMS1):c.945T>C (p.Ser315=)	rs183390773	0.00119
NM_006623.4(PHGDH):c.510+6A>G	rs371736796	0.00119
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln)	rs147876778	0.00119
NM_020533.3(MCOLN1):c.1000A>G (p.Met334Val)	rs141240937	0.00119
NM_033380.3(COL4A5):c.2858G>T (p.Gly953Val)	rs78972735	0.00119
NM_005957.5(MTHFR):c.1556G>T (p.Arg519Leu)	rs45449298	0.00118
NM_000051.4(ATM):c.6176C>T (p.Thr2059Ile)	rs144761622	0.00117
NM_001164508.2(NEB):c.2510A>G (p.Lys837Arg)	rs189623595	0.00117
NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr)	rs111920492	0.00117
NM_015702.3(MMADHC):c.578T>C (p.Val193Ala)	rs147370143	0.00117
NM_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn)	rs140179844	0.00117
NM_000048.4(ASL):c.35G>A (p.Arg12Gln)	rs145138923	0.00116
NM_000532.5(PCCB):c.338G>A (p.Arg113Gln)	rs138246328	0.00116
NM_001164508.2(NEB):c.4221G>A (p.Gln1407=)	rs6709752	0.00116
NM_006493.4(CLN5):c.76T>C (p.Trp26Arg)	rs199727787	0.00116
NM_000153.4(GALC):c.1489+3G>A	rs186664912	0.00115
NM_000352.6(ABCC8):c.4656G>A (p.Lys1552=)	rs145386421	0.00115
NM_001164508.2(NEB):c.469A>G (p.Ile157Val)	rs188718613	0.00115
NM_001386140.1(MTTP):c.2025C>T (p.Ile675=)	rs79023226	0.00115
NM_002529.4(NTRK1):c.865C>A (p.Gln289Lys)	rs137979116	0.00115
NM_014140.4(SMARCAL1):c.1851+5G>A	rs2066514	0.00115
NM_014844.5(TECPR2):c.1644T>G (p.Asn548Lys)	rs72700613	0.00115
NM_206933.4(USH2A):c.4698G>A (p.Gln1566=)	rs143218330	0.00115
NM_000033.4(ABCD1):c.707G>A (p.Arg236His)	rs201455322	0.00114
NM_001164508.2(NEB):c.23267T>C (p.Met7756Thr)	rs201767727	0.00114
NM_000152.5(GAA):c.915G>A (p.Gly305=)	rs150343359	0.00113
NM_000199.5(SGSH):c.1002C>T (p.Ala334=)	rs145596938	0.00113
NM_000383.4(AIRE):c.510A>G (p.Ala170=)	rs146992760	0.00113
NM_000492.4(CFTR):c.4242+10T>C	rs138642693	0.00113
NM_001033855.3(DCLRE1C):c.36A>C (p.Pro12=)	rs148108773	0.00113
NM_001369.3(DNAH5):c.3775G>A (p.Ala1259Thr)	rs112217391	0.00113
NM_138694.4(PKHD1):c.5358C>T (p.Ser1786=)	rs78543922	0.00113
NM_000152.5(GAA):c.2415G>A (p.Val805=)	rs150536507	0.00112
NM_001369.3(DNAH5):c.3650T>C (p.Ile1217Thr)	rs112124692	0.00112
NM_014049.5(ACAD9):c.928G>A (p.Val310Ile)	rs139073821	0.00112
NM_153006.3(NAGS):c.1216G>A (p.Asp406Asn)	rs140481641	0.00112
NM_000094.4(COL7A1):c.4559C>T (p.Pro1520Leu)	rs140114392	0.00111
NM_000195.5(HPS1):c.198G>A (p.Ser66=)	rs115265574	0.00111
NM_001164508.2(NEB):c.17601G>A (p.Val5867=)	rs58263509	0.00111
NM_001369.3(DNAH5):c.8002G>A (p.Gly2668Arg)	rs147236883	0.00111
NM_001384474.1(LOXHD1):c.4217C>T (p.Ala1406Val)	rs146739496	0.00111
NM_002454.3(MTRR):c.144C>T (p.Thr48=)	rs138612190	0.00111
NM_003227.4(TFR2):c.2137-5C>T	rs374964799	0.00111
NM_206933.4(USH2A):c.1179A>G (p.Gln393=)	rs148447919	0.00111
NM_000128.4(F11):c.663C>T (p.Pro221=)	rs142846329	0.00110
NM_001164508.2(NEB):c.177G>A (p.Gln59=)	rs200990309	0.00110
NM_003060.4(SLC22A5):c.1345T>G (p.Tyr449Asp)	rs11568514	0.00110
NM_015166.4(MLC1):c.628G>A (p.Val210Ile)	rs11568178	0.00110
NM_000094.4(COL7A1):c.8371C>T (p.Arg2791Trp)	rs142566193	0.00109
NM_000642.3(AGL):c.3431T>A (p.Ile1144Asn)	rs2230308	0.00109
NM_001164508.2(NEB):c.2283C>T (p.Ala761=)	rs373946448	0.00109
NM_014363.6(SACS):c.7527T>C (p.Tyr2509=)	rs140034972	0.00109
NM_138694.4(PKHD1):c.9492C>T (p.Ser3164=)	rs17752991	0.00109
NM_000137.4(FAH):c.565G>A (p.Val189Ile)	rs145389125	0.00108
NM_000255.4(MMUT):c.393G>A (p.Gln131=)	rs145682249	0.00108
NM_000492.4(CFTR):c.2620-26A>G	rs201716473	0.00108
NM_001142800.2(EYS):c.5233G>A (p.Asp1745Asn)	rs145274061	0.00108
NM_001164508.2(NEB):c.4834C>T (p.Arg1612Cys)	rs200545007	0.00108
NM_001283009.2(RTEL1):c.959T>C (p.Met320Thr)	rs143550996	0.00108
NM_002529.4(NTRK1):c.212+10C>T	rs183517027	0.00108
NM_014244.5(ADAMTS2):c.2795G>A (p.Arg932Gln)	rs140022033	0.00108
NM_000098.3(CPT2):c.1025T>C (p.Met342Thr)	rs144658100	0.00107
NM_000170.3(GLDC):c.2988G>C (p.Gln996His)	rs138640017	0.00107
NM_000352.6(ABCC8):c.2610C>T (p.Ala870=)	rs111967655	0.00107
NM_000520.6(HEXA):c.69C>G (p.Leu23=)	rs143554538	0.00107
NM_001127671.2(LIFR):c.2302A>G (p.Arg768Gly)	rs139848756	0.00107
NM_003742.4(ABCB11):c.1636C>A (p.Gln546Lys)	rs111482608	0.00107
NM_004453.4(ETFDH):c.1590A>G (p.Glu530=)	rs143015234	0.00107
NM_014049.5(ACAD9):c.988A>C (p.Lys330Gln)	rs79530903	0.00107
NM_138694.4(PKHD1):c.11130C>T (p.Ile3710=)	rs146224907	0.00107
NM_001399.5(EDA):c.458G>A (p.Arg153His)	rs140642493	0.00106
NM_001673.5(ASNS):c.1364C>T (p.Ser455Phe)	rs61733327	0.00106
NM_000071.3(CBS):c.1643G>A (p.Arg548Gln)	rs150828989	0.00105
NM_000199.5(SGSH):c.390C>T (p.Thr130=)	rs111761143	0.00105
NM_000271.5(NPC1):c.3217G>A (p.Gly1073Ser)	rs141440861	0.00105
NM_000274.4(OAT):c.969C>T (p.Tyr323=)	rs138895801	0.00105
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter)	rs121434254	0.00105
NM_000784.4(CYP27A1):c.646+4C>T	rs191313794	0.00105
NM_130849.4(SLC39A4):c.518C>T (p.Ala173Val)	rs141890870	0.00105
NM_138694.4(PKHD1):c.281+3A>G	rs79803080	0.00105
NM_000057.4(BLM):c.11T>C (p.Val4Ala)	rs144706057	0.00104
NM_000158.4(GBE1):c.2074G>A (p.Ala692Thr)	rs192877602	0.00104
NM_001164508.2(NEB):c.8202C>T (p.Val2734=)	rs144595998	0.00104
NM_138694.4(PKHD1):c.9215C>T (p.Ala3072Val)	rs139306706	0.00104
NM_152564.5(VPS13B):c.3516A>G (p.Thr1172=)	rs118158347	0.00104
NM_000199.5(SGSH):c.181C>T (p.Arg61Cys)	rs142309764	0.00103
NM_000709.4(BCKDHA):c.15C>T (p.Ile5=)	rs17173144	0.00103
NM_001042432.2(CLN3):c.768C>T (p.Thr256=)	rs145967477	0.00103
NM_003227.4(TFR2):c.473+8T>A	rs148902192	0.00103
NM_003227.4(TFR2):c.727-9T>A	rs200816061	0.00103
NM_004629.2(FANCG):c.739C>A (p.Gln247Lys)	rs145613634	0.00103
NM_014244.5(ADAMTS2):c.2763C>T (p.Gly921=)	rs144797464	0.00103
NM_033305.3(VPS13A):c.5292G>T (p.Leu1764=)	rs141528779	0.00103
NM_000051.4(ATM):c.2127T>C (p.Ile709=)	rs56252953	0.00102
NM_000154.2(GALK1):c.1167G>A (p.Val389=)	rs150586960	0.00102
NM_000170.3(GLDC):c.498T>C (p.Pro166=)	rs150193069	0.00102
NM_000359.3(TGM1):c.432G>A (p.Gly144=)	rs141559048	0.00102
NM_000478.6(ALPL):c.1482C>T (p.Leu494=)	rs142545037	0.00102
NM_000527.5(LDLR):c.694+25C>T	rs199540175	0.00102
NM_014244.5(ADAMTS2):c.748G>A (p.Ala250Thr)	rs143764421	0.00102
NM_138694.4(PKHD1):c.5478G>A (p.Ala1826=)	rs137925439	0.00102
NM_000046.5(ARSB):c.82C>T (p.Leu28=)	rs138587718	0.00101
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg)	rs191312027	0.00101
NM_000152.5(GAA):c.726G>A (p.Ala242=)	rs148578399	0.00101
NM_000231.3(SGCG):c.539A>T (p.Glu180Val)	rs114160429	0.00101
NM_000478.6(ALPL):c.818C>T (p.Thr273Met)	rs148405563	0.00101
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=)	rs1800131	0.00101
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp)	rs146632606	0.00101
NM_001142800.2(EYS):c.9185A>G (p.Asn3062Ser)	rs553840761	0.00101
NM_001164508.2(NEB):c.8553G>A (p.Gly2851=)	rs200624735	0.00101
NM_001386140.1(MTTP):c.972G>A (p.Glu324=)	rs146953015	0.00101
NM_001875.5(CPS1):c.783C>T (p.Ile261=)	rs142468138	0.00101
NM_138694.4(PKHD1):c.275G>A (p.Arg92Gln)	rs145886657	0.00101
NM_004268.5(MED17):c.1011G>A (p.Pro337=)	rs141529021	0.00100
NM_012434.5(SLC17A5):c.85G>A (p.Ala29Thr)	rs141463026	0.00100
NM_000154.2(GALK1):c.593C>T (p.Ala198Val)	rs80084721	0.00099
NM_000359.3(TGM1):c.106C>A (p.Arg36Ser)	rs145197904	0.00099
NM_001142800.2(EYS):c.6394C>T (p.Leu2132=)	rs149332790	0.00099
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys)	rs138327406	0.00098
NM_000057.4(BLM):c.3879A>G (p.Glu1293=)	rs28377085	0.00098
NM_000094.4(COL7A1):c.5819C>T (p.Pro1940Leu)	rs149267939	0.00098
NM_000169.3(GLA):c.8T>C (p.Leu3Pro)	rs150547672	0.00098
NM_000246.4(CIITA):c.460G>A (p.Asp154Asn)	rs76923280	0.00098
NM_001384474.1(LOXHD1):c.4440G>A (p.Val1480=)	rs76946640	0.00098
NM_052845.4(MMAB):c.10T>C (p.Cys4Arg)	rs146668962	0.00098
NM_130849.4(SLC39A4):c.257C>T (p.Pro86Leu)	rs187080747	0.00098
NM_206933.4(USH2A):c.5624A>G (p.Asn1875Ser)	rs141609561	0.00098
NM_001875.5(CPS1):c.637G>A (p.Gly213Ser)	rs138392504	0.00097
NM_006623.4(PHGDH):c.1559C>A (p.Ala520Glu)	rs151275800	0.00097
NM_014244.5(ADAMTS2):c.1122C>T (p.Ser374=)	rs145109914	0.00097
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu)	rs34231402	0.00096
NM_000051.4(ATM):c.6860G>C (p.Gly2287Ala)	rs1800061	0.00096
NM_000091.5(COL4A3):c.222G>T (p.Pro74=)	rs187950806	0.00096
NM_000126.4(ETFA):c.826A>C (p.Ile276Leu)	rs141200145	0.00096
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=)	rs145145840	0.00096
NM_000520.6(HEXA):c.1107C>T (p.Gly369=)	rs140337137	0.00096
NM_001164508.2(NEB):c.8719G>A (p.Gly2907Ser)	rs201707021	0.00096
NM_024649.5(BBS1):c.1181G>A (p.Gly394Asp)	rs141528309	0.00096
NM_152564.5(VPS13B):c.9903G>A (p.Glu3301=)	rs150573530	0.00096
NM_000027.4(AGA):c.762C>T (p.Ala254=)	rs145465919	0.00095
NM_000136.3(FANCC):c.816C>T (p.Ile272=)	rs55719336	0.00095
NM_000198.4(HSD3B2):c.500C>T (p.Ala167Val)	rs35486059	0.00095
NM_000543.5(SMPD1):c.1091+9C>T	rs143612450	0.00095
NM_001126108.2(SLC12A3):c.1284C>T (p.Thr428=)	rs34216426	0.00095
NM_002529.4(NTRK1):c.1080G>A (p.Thr360=)	rs2274498	0.00095
NM_012243.3(SLC35A3):c.531G>C (p.Met177Ile)	rs151009402	0.00095
NM_004937.3(CTNS):c.834G>A (p.Leu278=)	rs139519275	0.00094
NM_000016.6(ACADM):c.994C>T (p.Leu332=)	rs138098371	0.00093
NM_000030.3(AGXT):c.1023C>A (p.Asp341Glu)	rs144007007	0.00093
NM_000057.4(BLM):c.3359-13A>G	rs200250931	0.00093
NM_000128.4(F11):c.1020C>T (p.Asn340=)	rs149052026	0.00093
NM_002225.5(IVD):c.164A>T (p.Lys55Met)	rs145999491	0.00093
NM_006019.4(TCIRG1):c.1536C>T (p.Tyr512=)	rs138049763	0.00093
NM_020533.3(MCOLN1):c.32-10A>G	rs371191277	0.00093
NM_138694.4(PKHD1):c.1307C>G (p.Thr436Ser)	rs146789444	0.00093
NM_000057.4(BLM):c.1601A>G (p.Asn534Ser)	rs35224686	0.00092
NM_000137.4(FAH):c.1205G>A (p.Arg402His)	rs147796599	0.00092
NM_000282.4(PCCA):c.2172C>T (p.Leu724=)	rs150352833	0.00092
NM_000481.4(AMT):c.-76G>C	rs544461335	0.00092
NM_002454.3(MTRR):c.869T>C (p.Ile290Thr)	rs144899305	0.00092
NM_014049.5(ACAD9):c.453+8A>G	rs199919500	0.00092
NM_000136.3(FANCC):c.178G>A (p.Val60Ile)	rs138629441	0.00091
NM_000277.3(PAH):c.158G>A (p.Arg53His)	rs118092776	0.00091
NM_000310.4(PPT1):c.904A>G (p.Ile302Val)	rs146902902	0.00091
NM_000352.6(ABCC8):c.1384A>G (p.Ile462Val)	rs117874766	0.00091
NM_000481.4(AMT):c.510G>C (p.Val170=)	rs140380954	0.00091
NM_000709.4(BCKDHA):c.708C>T (p.Phe236=)	rs146932786	0.00091
NM_003384.3(VRK1):c.175T>G (p.Ser59Ala)	rs61736727	0.00091
NM_007259.5(VPS45):c.318C>T (p.Asp106=)	rs150076399	0.00091
NM_152564.5(VPS13B):c.10905T>C (p.Pro3635=)	rs61754107	0.00091
NM_000199.5(SGSH):c.1446C>T (p.Ala482=)	rs113679696	0.00090
NM_000352.6(ABCC8):c.1630+10C>T	rs188075767	0.00090
NM_004004.6(GJB2):c.-23G>T	rs786204734	0.00090
NM_000052.7(ATP7A):c.1955G>A (p.Arg652Gln)	rs143214563	0.00089
NM_000135.4(FANCA):c.237C>T (p.Asp79=)	rs144151341	0.00089
NM_000152.5(GAA):c.2668G>C (p.Val890Leu)	rs377286472	0.00089
NM_000441.2(SLC26A4):c.2190G>T (p.Gln730His)	rs142723249	0.00089
NM_025216.3(WNT10A):c.208C>T (p.Arg70Trp)	rs146460077	0.00089
NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys)	rs149553844	0.00089
NM_000033.4(ABCD1):c.895C>T (p.His299Tyr)	rs202195978	0.00088
NM_000151.4(G6PC1):c.*3G>A	rs191399793	0.00088
NM_000199.5(SGSH):c.303C>T (p.Phe101=)	rs150482611	0.00088
NM_000237.3(LPL):c.345A>C (p.Ser115=)	rs147309575	0.00088
NM_000528.4(MAN2B1):c.455A>G (p.Asn152Ser)	rs200164758	0.00088
NM_006432.5(NPC2):c.363+7G>A	rs200463204	0.00088
NM_152564.5(VPS13B):c.7695C>T (p.Cys2565=)	rs114038492	0.00088
NM_000520.6(HEXA):c.1527-6T>C	rs199914308	0.00087
NM_000035.4(ALDOB):c.543T>G (p.Asn181Lys)	rs35885472	0.00086
NM_000057.4(BLM):c.2362C>A (p.Leu788Ile)	rs149754073	0.00086
NM_000094.4(COL7A1):c.8568C>T (p.Ser2856=)	rs148454724	0.00086
NM_000133.4(F9):c.19A>T (p.Ile7Phe)	rs150190385	0.00086
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter)	rs121965019	0.00086
NM_000260.4(MYO7A):c.1554+7C>T	rs150114658	0.00086
NM_001283009.2(RTEL1):c.2805C>T (p.Leu935=)	rs12625047	0.00086
NM_001369.3(DNAH5):c.8731A>G (p.Asn2911Asp)	rs142852982	0.00086
NM_001370658.1(BTD):c.1041C>T (p.Gly347=)	rs142421934	0.00086
NM_005726.6(TSFM):c.69T>A (p.Leu23=)	rs147317818	0.00086
NM_031885.5(BBS2):c.1380C>T (p.Phe460=)	rs141046144	0.00086
NM_000151.4(G6PC1):c.562+10G>A	rs199505156	0.00085
NM_000198.4(HSD3B2):c.621C>T (p.Asn207=)	rs143758913	0.00085
NM_001033855.3(DCLRE1C):c.1101A>G (p.Pro367=)	rs143782439	0.00085
NM_001164508.2(NEB):c.22005G>A (p.Thr7335=)	rs201400523	0.00085
NM_004646.4(NPHS1):c.803G>A (p.Arg268Gln)	rs115308424	0.00085
NM_182760.4(SUMF1):c.211T>C (p.Ser71Pro)	rs201984297	0.00085
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val)	rs35818432	0.00085
NM_001876.4(CPT1A):c.853A>C (p.Lys285Gln)	rs77477448	0.00084
NM_003640.5(ELP1):c.203G>T (p.Ser68Ile)	rs143723093	0.00084
NM_000048.4(ASL):c.392C>T (p.Thr131Met)	rs143793815	0.00083
NM_000154.2(GALK1):c.864G>C (p.Thr288=)	rs201247556	0.00083
NM_000352.6(ABCC8):c.1707C>T (p.Ala569=)	rs147623093	0.00083
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr)	rs35516286	0.00083
NM_000527.5(LDLR):c.817+9T>C	rs375163928	0.00083
NM_000784.4(CYP27A1):c.703G>A (p.Glu235Lys)	rs149897566	0.00083
NM_001164508.2(NEB):c.2603T>C (p.Leu868Pro)	rs143123053	0.00083
NM_001164508.2(NEB):c.8499G>A (p.Lys2833=)	rs183998406	0.00083
NM_006623.4(PHGDH):c.682G>T (p.Gly228Trp)	rs139063843	0.00083
NM_023036.6(DNAI2):c.754G>A (p.Val252Met)	rs140326154	0.00083
NM_000046.5(ARSB):c.1078C>T (p.Leu360=)	rs140923667	0.00082
NM_000052.7(ATP7A):c.4006A>G (p.Asn1336Asp)	rs146651049	0.00082
NM_001127671.2(LIFR):c.2934G>A (p.Gln978=)	rs148354076	0.00082
NM_005957.5(MTHFR):c.732C>T (p.Thr244=)	rs45486194	0.00082
NM_000126.4(ETFA):c.6C>T (p.Phe2=)	rs749929239	0.00081
NM_000128.4(F11):c.797G>A (p.Ser266Asn)	rs145168351	0.00081
NM_000203.5(IDUA):c.408C>T (p.Ala136=)	rs138195998	0.00081
NM_000282.4(PCCA):c.2040+11dup	rs779884567	0.00081
NM_001142800.2(EYS):c.2562C>T (p.Asp854=)	rs188011013	0.00081
NM_001369.3(DNAH5):c.4373G>A (p.Arg1458Gln)	rs61747551	0.00081
NM_001876.4(CPT1A):c.961G>A (p.Glu321Lys)	rs114030714	0.00081
NM_005609.4(PYGM):c.848A>G (p.Asn283Ser)	rs114468011	0.00081
NM_007259.5(VPS45):c.290-10T>C	rs192850081	0.00081
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly)	rs41302239	0.00081
NM_000053.4(ATP7B):c.1375G>T (p.Val459Leu)	rs183044693	0.00080
NM_000108.5(DLD):c.788G>A (p.Arg263His)	rs145670503	0.00080
NM_000396.4(CTSK):c.-1-9C>T	rs200480574	0.00080
NM_000532.5(PCCB):c.882C>T (p.Pro294=)	rs142730126	0.00080
NM_014844.5(TECPR2):c.1605C>T (p.Asn535=)	rs145715326	0.00080
NM_138694.4(PKHD1):c.1877A>G (p.Lys626Arg)	rs117122807	0.00080
NM_017777.4(MKS1):c.27C>T (p.Asp9=)	rs369488349	0.00079
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met)	rs138480247	0.00079
NM_000022.4(ADA):c.226C>T (p.Arg76Trp)	rs121908736	0.00078
NM_000046.5(ARSB):c.1373A>G (p.Asn458Ser)	rs144222167	0.00078
NM_000051.4(ATM):c.2096A>G (p.Glu699Gly)	rs147934285	0.00078
NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=)	rs373081328	0.00078
NM_000159.4(GCDH):c.471C>T (p.Ser157=)	rs146682905	0.00078
NM_000203.5(IDUA):c.234C>T (p.Gly78=)	rs138932617	0.00078
NM_000289.6(PFKM):c.41T>C (p.Ile14Thr)	rs140473672	0.00078
NM_000528.4(MAN2B1):c.1230+9G>C	rs367590716	0.00078
NM_001692.4(ATP6V1B1):c.264G>A (p.Ala88=)	rs147576439	0.00078
NM_000528.4(MAN2B1):c.1521G>T (p.Ala507=)	rs143318498	0.00077
NM_001164508.2(NEB):c.1258-7C>G	rs371265681	0.00077
NM_001164508.2(NEB):c.21419T>C (p.Ile7140Thr)	rs200112795	0.00077
NM_001369.3(DNAH5):c.11140A>G (p.Ile3714Val)	rs143185806	0.00077
NM_001369.3(DNAH5):c.9203A>G (p.Glu3068Gly)	rs141571121	0.00077
NM_003907.3(EIF2B5):c.1870-5C>A	rs144864475	0.00077
NM_005609.4(PYGM):c.1787A>G (p.Asn596Ser)	rs150622626	0.00077
NM_012203.2(GRHPR):c.801A>C (p.Gly267=)	rs141800325	0.00077
NM_152564.5(VPS13B):c.9094G>T (p.Asp3032Tyr)	rs140095832	0.00077
NM_000156.6(GAMT):c.581T>C (p.Val194Ala)	rs147739199	0.00076
NM_000195.5(HPS1):c.952C>G (p.Leu318Val)	rs201808262	0.00076
NM_000203.5(IDUA):c.701G>C (p.Ser234Thr)	rs201826605	0.00076
NM_000284.4(PDHA1):c.507G>A (p.Ala169=)	rs141862527	0.00076
NM_001164277.2(SLC37A4):c.497G>A (p.Arg166His)	rs186476316	0.00076
NM_001352514.2(HLCS):c.1695C>T (p.Leu565=)	rs138209330	0.00076
NM_001875.5(CPS1):c.2192+6A>T	rs201058019	0.00076
NM_024312.5(GNPTAB):c.3516T>C (p.Tyr1172=)	rs201592854	0.00076
NM_025215.6(PUS1):c.1008G>A (p.Glu336=)	rs145430883	0.00076
NM_138694.4(PKHD1):c.10926G>A (p.Met3642Ile)	rs78518523	0.00076
NM_152419.3(HGSNAT):c.342C>T (p.Asn114=)	rs184883937	0.00076
NM_000023.4(SGCA):c.366G>A (p.Leu122=)	rs147739328	0.00075
NM_000023.4(SGCA):c.843C>A (p.Ala281=)	rs149487996	0.00075
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val)	rs148432863	0.00075
NM_000235.4(LIPA):c.894G>A (p.Gln298=)	rs116928232	0.00075
NM_000359.3(TGM1):c.383A>G (p.Glu128Gly)	rs138592626	0.00075
NM_000642.3(AGL):c.4214A>G (p.Glu1405Gly)	rs28730708	0.00075
NM_001003722.2(GLE1):c.444G>A (p.Arg148=)	rs143856051	0.00075
NM_138694.4(PKHD1):c.7912-5T>G	rs371510537	0.00075
NM_000126.4(ETFA):c.533C>G (p.Thr178Arg)	rs140169311	0.00074
NM_000260.4(MYO7A):c.5904C>T (p.His1968=)	rs41298753	0.00074
NM_000492.4(CFTR):c.4333G>A (p.Asp1445Asn)	rs148783445	0.00074
NM_001017420.3(ESCO2):c.1013+7A>G	rs149494070	0.00074
NM_001352514.2(HLCS):c.1331G>A (p.Arg444Gln)	rs146030669	0.00074
NM_001369.3(DNAH5):c.1715T>G (p.Leu572Trp)	rs137878131	0.00074
NM_001384474.1(LOXHD1):c.6599G>A (p.Arg2200Gln)	rs148468627	0.00074
NM_001875.5(CPS1):c.195C>T (p.Ser65=)	rs192759073	0.00074
NM_133259.4(LRPPRC):c.1928A>G (p.His643Arg)	rs148575027	0.00074
NM_138694.4(PKHD1):c.5752-9G>A	rs184441390	0.00074
NM_152564.5(VPS13B):c.2704A>G (p.Lys902Glu)	rs149531438	0.00074
NM_000532.5(PCCB):c.429+7G>A	rs201986472	0.00073
NM_001126108.2(SLC12A3):c.2028C>T (p.His676=)	rs35070204	0.00073
NM_001378454.1(ALMS1):c.11765A>G (p.Asn3922Ser)	rs199874928	0.00073
NM_003640.5(ELP1):c.3347-15A>G	rs200154542	0.00073
NM_020533.3(MCOLN1):c.1584C>T (p.Gly528=)	rs145386883	0.00073
NM_172250.3(MMAA):c.966A>G (p.Pro322=)	rs150692463	0.00073
NM_206933.4(USH2A):c.2001C>T (p.His667=)	rs142870255	0.00073
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg)	rs67254669	0.00072
NM_000352.6(ABCC8):c.2176G>A (p.Ala726Thr)	rs138687850	0.00072
NM_000481.4(AMT):c.354G>A (p.Leu118=)	rs145194293	0.00072
NM_000528.4(MAN2B1):c.2409C>T (p.Ser803=)	rs147850230	0.00072
NM_000543.5(SMPD1):c.297C>G (p.Thr99=)	rs146630228	0.00072
NM_001164277.2(SLC37A4):c.785+6A>T	rs369358436	0.00072
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val)	rs116135678	0.00072
NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp)	rs200483477	0.00072
NM_152564.5(VPS13B):c.11613C>T (p.Phe3871=)	rs139436386	0.00072
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu)	rs2235006	0.00071
NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys)	rs201758548	0.00071
NM_000274.4(OAT):c.1224T>C (p.His408=)	rs201864147	0.00071
NM_000282.4(PCCA):c.1896A>G (p.Thr632=)	rs61760965	0.00071
NM_000289.6(PFKM):c.453G>A (p.Thr151=)	rs144370737	0.00071
NM_001369.3(DNAH5):c.1329G>A (p.Gln443=)	rs141621142	0.00071
NM_001378454.1(ALMS1):c.4400G>T (p.Gly1467Val)	rs78102263	0.00071
NM_001384474.1(LOXHD1):c.1815C>T (p.Asp605=)	rs201388780	0.00071
NM_152564.5(VPS13B):c.2596G>A (p.Val866Ile)	rs150185067	0.00071
NM_000018.4(ACADVL):c.1824C>T (p.Ile608=)	rs146115467	0.00070
NM_000153.4(GALC):c.-67T>G	rs571945132	0.00070
NM_000170.3(GLDC):c.2863G>A (p.Val955Ile)	rs148540696	0.00070
NM_000246.4(CIITA):c.1740C>G (p.Arg580=)	rs78666334	0.00070
NM_000274.4(OAT):c.48C>T (p.Arg16=)	rs143526711	0.00070
NM_001042432.2(CLN3):c.238A>T (p.Thr80Ser)	rs150348015	0.00070
NM_001164508.2(NEB):c.7581C>T (p.Tyr2527=)	rs200425929	0.00070
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys)	rs150487794	0.00070
NM_001369.3(DNAH5):c.10367C>T (p.Ala3456Val)	rs149956015	0.00070
NM_015166.4(MLC1):c.627C>T (p.Ala209=)	rs138153307	0.00070
NM_020320.5(RARS2):c.456T>C (p.Asn152=)	rs141374913	0.00070
NM_138694.4(PKHD1):c.1925C>T (p.Thr642Ile)	rs138968608	0.00070
NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu)	rs150046042	0.00070
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr)	rs140601319	0.00070
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser)	rs142248228	0.00070
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu)	rs145890213	0.00070
NM_000383.4(AIRE):c.447G>A (p.Arg149=)	rs374704178	0.00069
NM_000466.3(PEX1):c.3216T>C (p.Ser1072=)	rs140963147	0.00069
NM_000528.4(MAN2B1):c.419G>A (p.Arg140Gln)	rs139281846	0.00069
NM_000531.6(OTC):c.298+5G>C	rs72554348	0.00069
NM_001164508.2(NEB):c.25038A>G (p.Gln8346=)	rs184319249	0.00069
NM_001384474.1(LOXHD1):c.5853G>A (p.Lys1951=)	rs201366522	0.00069
NM_002225.5(IVD):c.891G>A (p.Ala297=)	rs138427412	0.00069
NM_152564.5(VPS13B):c.3811A>T (p.Thr1271Ser)	rs142674934	0.00069
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu)	rs121909034	0.00068
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser)	rs201652272	0.00068
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter)	rs11555217	0.00068
NM_004453.4(ETFDH):c.1049G>A (p.Arg350Gln)	rs139306043	0.00068
NM_018006.5(TRMU):c.900G>T (p.Leu300=)	rs113846383	0.00068
NM_031885.5(BBS2):c.1523A>C (p.Gln508Pro)	rs115328064	0.00068
NM_138413.4(HOGA1):c.708G>T (p.Val236=)	rs61731946	0.00068
NM_152564.5(VPS13B):c.1559A>G (p.His520Arg)	rs143205296	0.00068
NM_153006.3(NAGS):c.1302C>T (p.Pro434=)	rs150004962	0.00068
NM_213653.4(HJV):c.510C>T (p.Phe170=)	rs139281553	0.00068
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg)	rs121908529	0.00067
NM_000049.4(ASPA):c.509T>C (p.Ile170Thr)	rs144321760	0.00067
NM_000478.6(ALPL):c.612C>T (p.Ile204=)	rs141448778	0.00067
NM_001243279.3(ACSF3):c.823-4G>C	rs558325262	0.00067
NM_001360.3(DHCR7):c.126C>T (p.Ser42=)	rs150928869	0.00067
NM_152564.5(VPS13B):c.3656C>G (p.Ser1219Cys)	rs149478021	0.00067
NM_153717.3(EVC):c.2322G>C (p.Ala774=)	rs150373930	0.00067
NM_000046.5(ARSB):c.1337-3T>A	rs183651028	0.00066
NM_000053.4(ATP7B):c.1198A>G (p.Thr400Ala)	rs199807461	0.00066
NM_000094.4(COL7A1):c.4312G>A (p.Val1438Ile)	rs148625586	0.00066
NM_000154.2(GALK1):c.746C>T (p.Ala249Val)	rs149825190	0.00066
NM_000199.5(SGSH):c.1428C>T (p.His476=)	rs139460639	0.00066
NM_000237.3(LPL):c.786G>A (p.Gln262=)	rs140986245	0.00066
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu)	rs150334966	0.00066
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)	rs137853963	0.00066
NM_001164508.2(NEB):c.8978A>G (p.Lys2993Arg)	rs138217855	0.00066
NM_001378454.1(ALMS1):c.4134T>C (p.Ser1378=)	rs200491758	0.00066
NM_001875.5(CPS1):c.1416T>C (p.Asn472=)	rs148204462	0.00066
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser)	rs139203363	0.00066
NM_003384.3(VRK1):c.1020C>T (p.Asp340=)	rs147853760	0.00066
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)	rs80338945	0.00066
NM_004937.3(CTNS):c.695G>A (p.Arg232His)	rs142641674	0.00066
NM_018941.4(CLN8):c.779C>T (p.Pro260Leu)	rs146579299	0.00066
NM_020166.5(MCCC1):c.1492C>T (p.Leu498Phe)	rs139926581	0.00066
NM_023036.6(DNAI2):c.1188G>A (p.Arg396=)	rs139935771	0.00066
NM_138694.4(PKHD1):c.9553G>A (p.Val3185Ile)	rs145651593	0.00066
NM_152564.5(VPS13B):c.11495+6A>G	rs116546060	0.00066
NM_152564.5(VPS13B):c.7712C>T (p.Ser2571Phe)	rs145208175	0.00066
NM_206933.4(USH2A):c.2052A>G (p.Gln684=)	rs111033248	0.00066
NM_000033.4(ABCD1):c.258C>T (p.Val86=)	rs200660869	0.00065
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu)	rs111033212	0.00065
NM_000466.3(PEX1):c.3373A>T (p.Met1125Leu)	rs142994610	0.00065
NM_001369.3(DNAH5):c.2578-10T>G	rs756212532	0.00065
NM_005609.4(PYGM):c.1957C>G (p.Leu653Val)	rs61736659	0.00065
NM_013339.4(ALG6):c.257+5G>A	rs199682486	0.00065
NM_020533.3(MCOLN1):c.71C>A (p.Thr24Asn)	rs141168886	0.00065
NM_000154.2(GALK1):c.611+9C>T	rs370204015	0.00064
NM_000466.3(PEX1):c.645C>G (p.Thr215=)	rs151041559	0.00064
NM_000543.5(SMPD1):c.689G>A (p.Arg230His)	rs141387770	0.00064
NM_000642.3(AGL):c.334A>G (p.Ile112Val)	rs147024351	0.00064
NM_001164508.2(NEB):c.23141G>A (p.Arg7714Gln)	rs200963111	0.00064
NM_001875.5(CPS1):c.1039G>T (p.Ala347Ser)	rs148584272	0.00064
NM_018941.4(CLN8):c.513C>G (p.Pro171=)	rs376910635	0.00064
NM_138694.4(PKHD1):c.3783C>T (p.Gly1261=)	rs138388301	0.00064
NM_138694.4(PKHD1):c.7482A>T (p.Gly2494=)	rs199996156	0.00064
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val)	rs150151955	0.00063
NM_000070.3(CAPN3):c.525C>T (p.Asp175=)	rs144383442	0.00063
NM_000441.2(SLC26A4):c.1614C>T (p.Asn538=)	rs111033193	0.00063
NM_001164508.2(NEB):c.18862G>A (p.Val6288Ile)	rs201886728	0.00063
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter)	rs201587138	0.00063
NM_001875.5(CPS1):c.1714G>A (p.Asp572Asn)	rs142916171	0.00063
NM_012144.4(DNAI1):c.1173C>G (p.Ile391Met)	rs151097256	0.00063
NM_012144.4(DNAI1):c.1878G>A (p.Ala626=)	rs146244319	0.00063
NM_014140.4(SMARCAL1):c.863-9C>G	rs188833040	0.00063
NM_014244.5(ADAMTS2):c.1883G>A (p.Arg628His)	rs140621260	0.00063
NM_000203.5(IDUA):c.11T>C (p.Leu4Pro)	rs180984980	0.00062
NM_000271.5(NPC1):c.1561G>T (p.Ala521Ser)	rs138184115	0.00062
NM_000303.3(PMM2):c.110A>T (p.Gln37Leu)	rs2304472	0.00062
NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter)	rs143994166	0.00062
NM_001283009.2(RTEL1):c.2824G>A (p.Asp942Asn)	rs116247954	0.00062
NM_000094.4(COL7A1):c.5217T>A (p.Pro1739=)	rs147611409	0.00061
NM_000094.4(COL7A1):c.6596C>T (p.Pro2199Leu)	rs143221297	0.00061
NM_000159.4(GCDH):c.1261G>A (p.Ala421Thr)	rs151201155	0.00061
NM_000170.3(GLDC):c.2730G>A (p.Ser910=)	rs144937031	0.00061
NM_001126108.2(SLC12A3):c.36C>T (p.Asp12=)	rs117987946	0.00061
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)	rs549794342	0.00061
NM_001378454.1(ALMS1):c.10892G>A (p.Arg3631His)	rs142558799	0.00061
NM_002529.4(NTRK1):c.602C>A (p.Pro201His)	rs146201511	0.00061
NM_004646.4(NPHS1):c.1802G>C (p.Gly601Ala)	rs114615449	0.00061
NM_006623.4(PHGDH):c.624T>C (p.Pro208=)	rs77401816	0.00061
NM_014049.5(ACAD9):c.1022T>C (p.Leu341Ser)	rs141874052	0.00061
NM_014244.5(ADAMTS2):c.1164G>A (p.Pro388=)	rs141348218	0.00061
NM_033305.3(VPS13A):c.2201G>A (p.Ser734Asn)	rs117320408	0.00061
NM_033305.3(VPS13A):c.6096-7C>T	rs190144287	0.00061
NM_138694.4(PKHD1):c.1676G>A (p.Arg559Gln)	rs142896856	0.00061
NM_138694.4(PKHD1):c.7744C>T (p.Pro2582Ser)	rs200204857	0.00061
NM_000137.4(FAH):c.553+10C>T	rs201051426	0.00060
NM_001243279.3(ACSF3):c.633C>T (p.Gly211=)	rs140941507	0.00060
NM_001369.3(DNAH5):c.1121T>C (p.Ile374Thr)	rs147499872	0.00060
NM_005609.4(PYGM):c.1083C>T (p.Asp361=)	rs141959242	0.00060
NM_005726.6(TSFM):c.760C>T (p.Arg254Cys)	rs200132571	0.00060
NM_006623.4(PHGDH):c.985A>T (p.Thr329Ser)	rs201298102	0.00060
NM_014844.5(TECPR2):c.1833A>G (p.Thr611=)	rs147716085	0.00060
NM_017777.4(MKS1):c.1014G>A (p.Leu338=)	rs201998680	0.00060
NM_031885.5(BBS2):c.126T>G (p.Ile42Met)	rs139945733	0.00060
NM_000206.3(IL2RG):c.325G>A (p.Glu109Lys)	rs17875899	0.00059
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln)	rs143486492	0.00059
NM_002485.5(NBN):c.441C>T (p.Cys147=)	rs137857529	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_000022.4(ADA):c.606+10G>A	rs201045221	0.00058
NM_000023.4(SGCA):c.421C>A (p.Arg141Ser)	rs35130237	0.00058
NM_000033.4(ABCD1):c.1818G>A (p.Ser606=)	rs140263823	0.00058
NM_000092.5(COL4A4):c.1202C>T (p.Ala401Val)	rs199581317	0.00058
NM_000152.5(GAA):c.2417C>T (p.Thr806Met)	rs139850074	0.00058
NM_000182.5(HADHA):c.1212G>C (p.Val404=)	rs116396996	0.00058
NM_000255.4(MMUT):c.836A>G (p.Tyr279Cys)	rs2228282	0.00058
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr)	rs145136257	0.00058
NM_000382.3(ALDH3A2):c.119A>G (p.Asp40Gly)	rs147190807	0.00058
NM_000382.3(ALDH3A2):c.1398C>T (p.Leu466=)	rs150927045	0.00058
NM_001164508.2(NEB):c.18431A>G (p.His6144Arg)	rs34504204	0.00058
NM_001369.3(DNAH5):c.12878G>A (p.Ser4293Asn)	rs140279971	0.00058
NM_001369.3(DNAH5):c.13175T>G (p.Phe4392Cys)	rs145400611	0.00058
NM_001692.4(ATP6V1B1):c.1023C>T (p.Ser341=)	rs117826071	0.00058
NM_003060.4(SLC22A5):c.414C>T (p.Asp138=)	rs150705788	0.00058
NM_004937.3(CTNS):c.534C>T (p.Ile178=)	rs113967200	0.00058
NM_005609.4(PYGM):c.182G>A (p.Arg61His)	rs145514333	0.00058
NM_024312.5(GNPTAB):c.174C>T (p.Asp58=)	rs148948607	0.00058
NM_138694.4(PKHD1):c.2194G>T (p.Val732Phe)	rs201432731	0.00058
NM_206933.4(USH2A):c.10769C>T (p.Pro3590Leu)	rs115403785	0.00058
NM_000153.4(GALC):c.349A>G (p.Met117Val)	rs145580093	0.00057
NM_000157.4(GBA1):c.474C>T (p.Ile158=)	rs147411159	0.00057
NM_001130987.2(DYSF):c.4993G>A (p.Val1665Ile)	rs147056383	0.00057
NM_001378454.1(ALMS1):c.8411G>A (p.Arg2804His)	rs201252809	0.00057
NM_001378454.1(ALMS1):c.8942A>G (p.Asn2981Ser)	rs200390821	0.00057
NM_138694.4(PKHD1):c.11800G>A (p.Val3934Ile)	rs149111536	0.00057
NM_138694.4(PKHD1):c.5768A>T (p.Gln1923Leu)	rs150838488	0.00057
NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr)	rs143696882	0.00057
NM_000027.4(AGA):c.482G>A (p.Arg161Gln)	rs192195150	0.00056
NM_000046.5(ARSB):c.570A>G (p.Thr190=)	rs148138805	0.00056
NM_000071.3(CBS):c.215A>T (p.Lys72Ile)	rs192232907	0.00056
NM_000094.4(COL7A1):c.8504G>A (p.Arg2835His)	rs139014122	0.00056
NM_000232.5(SGCB):c.799C>T (p.Arg267Cys)	rs200761715	0.00056
NM_000528.4(MAN2B1):c.2625C>T (p.Gly875=)	rs368834616	0.00056
NM_001369.3(DNAH5):c.11231C>A (p.Thr3744Asn)	rs529225111	0.00056
NM_003907.3(EIF2B5):c.1956C>T (p.Phe652=)	rs149264256	0.00056
NM_012144.4(DNAI1):c.1923C>T (p.His641=)	rs145218397	0.00056
NM_015166.4(MLC1):c.1053T>C (p.Ala351=)	rs11568190	0.00056
NM_033056.4(PCDH15):c.5398G>A (p.Val1800Ile)	rs111033463	0.00056
NM_138694.4(PKHD1):c.10210A>G (p.Ile3404Val)	rs147612089	0.00056
NM_138694.4(PKHD1):c.2243C>T (p.Ala748Val)	rs141622697	0.00056
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)	rs148660051	0.00056
NM_206933.4(USH2A):c.15427C>T (p.Arg5143Cys)	rs145771342	0.00056
NM_206933.4(USH2A):c.4758+3A>G	rs117798425	0.00056
NM_000027.4(AGA):c.488G>C (p.Cys163Ser)	rs121964904	0.00055
NM_000094.4(COL7A1):c.1098G>A (p.Gly366=)	rs150776274	0.00055
NM_000128.4(F11):c.809A>T (p.Lys270Ile)	rs121965070	0.00055
NM_000135.4(FANCA):c.2658G>C (p.Glu886Asp)	rs139002130	0.00055
NM_000360.4(TH):c.1398C>T (p.Ile466=)	rs118175546	0.00055
NM_000466.3(PEX1):c.1085C>T (p.Ser362Leu)	rs138758170	0.00055
NM_000466.3(PEX1):c.2792C>A (p.Ala931Asp)	rs144825021	0.00055
NM_001164508.2(NEB):c.20956G>C (p.Asp6986His)	rs150874422	0.00055
NM_003982.4(SLC7A7):c.234C>T (p.Val78=)	rs139776370	0.00055
NM_006019.4(TCIRG1):c.476G>A (p.Gly159Glu)	rs199632510	0.00055
NM_014140.4(SMARCAL1):c.124A>G (p.Ile42Val)	rs199905841	0.00055
NM_016277.5(RAB23):c.536A>C (p.Glu179Ala)	rs150440590	0.00055
NM_020166.5(MCCC1):c.254A>C (p.Asn85Thr)	rs148616219	0.00055
NM_020320.5(RARS2):c.442A>G (p.Thr148Ala)	rs143389605	0.00055
NM_000070.3(CAPN3):c.2380+19C>T	rs141234995	0.00054
NM_000092.5(COL4A4):c.3989C>T (p.Pro1330Leu)	rs201578201	0.00054
NM_000158.4(GBE1):c.1877A>G (p.Asn626Ser)	rs185631651	0.00054
NM_000274.4(OAT):c.1311G>T (p.Leu437Phe)	rs1800456	0.00054
NM_000360.4(TH):c.897C>T (p.Phe299=)	rs76719766	0.00054
NM_000532.5(PCCB):c.1421A>G (p.Lys474Arg)	rs145628302	0.00054
NM_001164508.2(NEB):c.20835G>A (p.Pro6945=)	rs186244044	0.00054
NM_001360.3(DHCR7):c.1368C>T (p.Gly456=)	rs144562471	0.00054
NM_001876.4(CPT1A):c.2142+8C>T	rs147563740	0.00054
NM_002435.3(MPI):c.214A>C (p.Ser72Arg)	rs146699267	0.00054
NM_003060.4(SLC22A5):c.1142T>C (p.Met381Thr)	rs149730454	0.00054
NM_012144.4(DNAI1):c.40C>T (p.His14Tyr)	rs146501326	0.00054
NM_014363.6(SACS):c.7165G>A (p.Val2389Met)	rs142869943	0.00054
NM_138694.4(PKHD1):c.10859G>A (p.Arg3620His)	rs149163661	0.00054
NM_138694.4(PKHD1):c.325G>A (p.Ala109Thr)	rs143979330	0.00054
NM_206933.4(USH2A):c.8320G>A (p.Ala2774Thr)	rs111033533	0.00054
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys)	rs34640941	0.00053
NM_000053.4(ATP7B):c.1993A>G (p.Met665Val)	rs146303208	0.00053
NM_000137.4(FAH):c.181G>T (p.Val61Phe)	rs151264725	0.00053
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg)	rs147509697	0.00053
NM_001164508.2(NEB):c.20654C>T (p.Ala6885Val)	rs202209668	0.00053
NM_001243279.3(ACSF3):c.1A>G (p.Met1Val)	rs370382601	0.00053
NM_001283009.2(RTEL1):c.2915C>T (p.Thr972Ile)	rs199834369	0.00053
NM_001378454.1(ALMS1):c.9712C>T (p.Arg3238Cys)	rs201252375	0.00053
NM_001876.4(CPT1A):c.2100G>A (p.Glu700=)	rs188173541	0.00053
NM_152564.5(VPS13B):c.5803T>G (p.Ser1935Ala)	rs138930771	0.00053
NM_201525.4(ADGRG1):c.612C>T (p.Pro204=)	rs147495708	0.00053
NM_000135.4(FANCA):c.3183C>T (p.Ser1061=)	rs1800346	0.00052
NM_000203.5(IDUA):c.493+7G>A	rs200509712	0.00052
NM_000520.6(HEXA):c.1435G>A (p.Ala479Thr)	rs145012038	0.00052
NM_000527.5(LDLR):c.1167G>A (p.Thr389=)	rs139066906	0.00052
NM_001033855.3(DCLRE1C):c.1602C>T (p.Ser534=)	rs61745540	0.00052
NM_001164508.2(NEB):c.984C>T (p.Thr328=)	rs199969138	0.00052
NM_001369.3(DNAH5):c.3777G>A (p.Ala1259=)	rs144893234	0.00052
NM_001369.3(DNAH5):c.6956C>T (p.Thr2319Met)	rs144983881	0.00052
NM_003742.4(ABCB11):c.167C>T (p.Ser56Leu)	rs11568361	0.00052
NM_014244.5(ADAMTS2):c.2272G>A (p.Ala758Thr)	rs146222244	0.00052
NM_000016.6(ACADM):c.666C>A (p.Phe222Leu)	rs139457557	0.00051
NM_000018.4(ACADVL):c.1473A>G (p.Leu491=)	rs150518187	0.00051
NM_000057.4(BLM):c.465T>C (p.Asp155=)	rs185349681	0.00051
NM_000070.3(CAPN3):c.1746-7C>G	rs199978708	0.00051
NM_001142800.2(EYS):c.6828C>T (p.Ala2276=)	rs373606872	0.00051
NM_001164508.2(NEB):c.3468C>T (p.Val1156=)	rs373258662	0.00051
NM_001369.3(DNAH5):c.1198G>A (p.Val400Met)	rs144575803	0.00051
NM_001378454.1(ALMS1):c.10774A>G (p.Thr3592Ala)	rs200467041	0.00051
NM_003060.4(SLC22A5):c.279G>C (p.Ser93=)	rs377734902	0.00051
NM_004646.4(NPHS1):c.1619C>A (p.Ala540Glu)	rs149598144	0.00051
NM_006623.4(PHGDH):c.834C>A (p.Val278=)	rs147866831	0.00051
NM_014844.5(TECPR2):c.4033G>A (p.Ala1345Thr)	rs77170608	0.00051
NM_015702.3(MMADHC):c.617A>G (p.Asn206Ser)	rs138607412	0.00051
NM_206933.4(USH2A):c.10741-8G>A	rs369968349	0.00051
NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys)	rs200038092	0.00051
NM_000018.4(ACADVL):c.1077+15C>T	rs202237278	0.00050
NM_000199.5(SGSH):c.1296C>T (p.Tyr432=)	rs141153056	0.00050
NM_000246.4(CIITA):c.712C>T (p.His238Tyr)	rs150307400	0.00050
NM_000263.4(NAGLU):c.2157G>A (p.Pro719=)	rs114687267	0.00050
NM_000359.3(TGM1):c.270T>A (p.Pro90=)	rs201400055	0.00050
NM_000489.6(ATRX):c.1423C>G (p.His475Asp)	rs146863015	0.00050
NM_000520.6(HEXA):c.-4G>A	rs766510036	0.00050
NM_000532.5(PCCB):c.763+10C>G	rs180982841	0.00050
NM_000642.3(AGL):c.1759C>T (p.His587Tyr)	rs139488862	0.00050
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=)	rs141519183	0.00050
NM_001875.5(CPS1):c.948-6C>T	rs112199960	0.00050
NM_003742.4(ABCB11):c.1605C>T (p.Ala535=)	rs144848376	0.00050
NM_138694.4(PKHD1):c.7091T>A (p.Ile2364Asn)	rs76260483	0.00050
NM_152564.5(VPS13B):c.1463C>T (p.Thr488Met)	rs150783688	0.00050
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val)	rs200911496	0.00049
NM_000489.6(ATRX):c.2923G>A (p.Asp975Asn)	rs200709847	0.00049
NM_001164508.2(NEB):c.20032C>T (p.Arg6678Cys)	rs200239095	0.00049
NM_001875.5(CPS1):c.1021T>G (p.Leu341Val)	rs138424013	0.00049
NM_020166.5(MCCC1):c.2009C>T (p.Ala670Val)	rs138937107	0.00049
NM_138694.4(PKHD1):c.10531G>A (p.Gly3511Arg)	rs112030234	0.00049
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr)	rs62645749	0.00049
NM_000070.3(CAPN3):c.1663G>A (p.Val555Ile)	rs138172448	0.00048
NM_000092.5(COL4A4):c.2241C>T (p.Pro747=)	rs374510402	0.00048
NM_000094.4(COL7A1):c.810G>A (p.Thr270=)	rs138770708	0.00048
NM_000170.3(GLDC):c.2328C>T (p.Leu776=)	rs149600380	0.00048
NM_000198.4(HSD3B2):c.465G>A (p.Pro155=)	rs114527791	0.00048
NM_000246.4(CIITA):c.2651G>A (p.Arg884His)	rs374443915	0.00048
NM_000277.3(PAH):c.734T>C (p.Val245Ala)	rs76212747	0.00048
NM_001126108.2(SLC12A3):c.1386C>T (p.Phe462=)	rs142199602	0.00048
NM_001164508.2(NEB):c.19315-10T>C	rs201473873	0.00048
NM_001164508.2(NEB):c.4198G>A (p.Ala1400Thr)	rs113174390	0.00048
NM_001164508.2(NEB):c.9047G>A (p.Arg3016Gln)	rs373587647	0.00048
NM_001378454.1(ALMS1):c.11353A>G (p.Ile3785Val)	rs201819880	0.00048
NM_001378454.1(ALMS1):c.611A>C (p.Glu204Ala)	rs200054604	0.00048
NM_014049.5(ACAD9):c.195T>C (p.Asn65=)	rs144978857	0.00048
NM_014244.5(ADAMTS2):c.764G>A (p.Arg255Gln)	rs117222015	0.00048
NM_023036.6(DNAI2):c.1533G>T (p.Glu511Asp)	rs150710001	0.00048
NM_052845.4(MMAB):c.620C>T (p.Ala207Val)	rs61739388	0.00048
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)	rs137852944	0.00048
NM_152564.5(VPS13B):c.1981G>A (p.Asp661Asn)	rs149334616	0.00048
NM_000016.6(ACADM):c.199T>C (p.Tyr67His)	rs121434280	0.00047
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg)	rs782161942	0.00047
NM_000198.4(HSD3B2):c.960A>C (p.Thr320=)	rs34412477	0.00047
NM_000492.4(CFTR):c.274-6T>C	rs371315549	0.00047
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu)	rs28942073	0.00047
NM_000642.3(AGL):c.1028G>A (p.Arg343Gln)	rs137943515	0.00047
NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=)	rs143762717	0.00047
NM_001384474.1(LOXHD1):c.1716C>T (p.Asn572=)	rs147582935	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_014363.6(SACS):c.10443C>G (p.Leu3481=)	rs144087359	0.00047
NM_033305.3(VPS13A):c.7920A>G (p.Gln2640=)	rs200387635	0.00047
NM_138413.4(HOGA1):c.931C>T (p.Pro311Ser)	rs116455504	0.00047
NM_152618.3(BBS12):c.1859A>G (p.Gln620Arg)	rs139278612	0.00047
NM_152618.3(BBS12):c.1979C>T (p.Pro660Leu)	rs147281546	0.00047
NM_000016.6(ACADM):c.600-18G>A	rs370523609	0.00046
NM_000035.4(ALDOB):c.619G>C (p.Glu207Gln)	rs3739721	0.00046
NM_000108.5(DLD):c.100A>G (p.Thr34Ala)	rs138002793	0.00046
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp)	rs143671872	0.00046
NM_000136.3(FANCC):c.705C>T (p.Pro235=)	rs141828876	0.00046
NM_000246.4(CIITA):c.931A>G (p.Met311Val)	rs140139362	0.00046
NM_000489.6(ATRX):c.4120+4A>C	rs200420513	0.00046
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile)	rs137853964	0.00046
NM_001142800.2(EYS):c.3586T>C (p.Cys1196Arg)	rs374409854	0.00046
NM_001164508.2(NEB):c.23524C>T (p.Arg7842Cys)	rs184516994	0.00046
NM_001369.3(DNAH5):c.8268A>C (p.Ser2756=)	rs775185371	0.00046
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)	rs80338685	0.00046
NM_012144.4(DNAI1):c.389-1G>C	rs200488444	0.00046
NM_020320.5(RARS2):c.78A>C (p.Thr26=)	rs138360045	0.00046
NM_153676.4(USH1C):c.648G>A (p.Leu216=)	rs77137413	0.00046
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)	rs199605265	0.00046
NM_000492.4(CFTR):c.509G>A (p.Arg170His)	rs1800079	0.00045
NM_000492.4(CFTR):c.601G>A (p.Val201Met)	rs138338446	0.00045
NM_000642.3(AGL):c.39C>T (p.Asn13=)	rs138203039	0.00045
NM_001164277.2(SLC37A4):c.1286A>C (p.Glu429Ala)	rs149974794	0.00045
NM_001164508.2(NEB):c.1045A>C (p.Lys349Gln)	rs369153778	0.00045
NM_002529.4(NTRK1):c.1320C>G (p.Asn440Lys)	rs147443162	0.00045
NM_004004.6(GJB2):c.*1C>T	rs111033327	0.00045
NM_005726.6(TSFM):c.539G>C (p.Gly180Ala)	rs138534976	0.00045
NM_012144.4(DNAI1):c.48+2dup	rs397515363	0.00045
NM_014140.4(SMARCAL1):c.962G>A (p.Gly321Asp)	rs148752234	0.00045
NM_000070.3(CAPN3):c.2235C>T (p.Tyr745=)	rs147774793	0.00044
NM_000094.4(COL7A1):c.3611C>T (p.Ala1204Val)	rs144825552	0.00044
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys)	rs183105855	0.00044
NM_000154.2(GALK1):c.66G>A (p.Glu22=)	rs367558510	0.00044
NM_000231.3(SGCG):c.832G>A (p.Gly278Ser)	rs147820869	0.00044
NM_000282.4(PCCA):c.1002C>T (p.Thr334=)	rs150106872	0.00044
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)	rs150673992	0.00044
NM_004646.4(NPHS1):c.2869G>C (p.Val957Leu)	rs114849139	0.00044
NM_032520.5(GNPTG):c.702T>C (p.Pro234=)	rs532275192	0.00044
NM_138413.4(HOGA1):c.237C>T (p.Gly79=)	rs148094180	0.00044
NM_138694.4(PKHD1):c.7067C>T (p.Pro2356Leu)	rs141360909	0.00044
NM_000030.3(AGXT):c.35A>G (p.Lys12Arg)	rs142969817	0.00043
NM_000057.4(BLM):c.3798T>G (p.Val1266=)	rs138831180	0.00043
NM_000094.4(COL7A1):c.1985A>G (p.Gln662Arg)	rs139622306	0.00043
NM_000098.3(CPT2):c.321A>G (p.Lys107=)	rs147846614	0.00043
NM_000169.3(GLA):c.376A>G (p.Ser126Gly)	rs149391489	0.00043
NM_000246.4(CIITA):c.1518G>A (p.Ala506=)	rs201215476	0.00043
NM_000492.4(CFTR):c.958T>G (p.Leu320Val)	rs144476686	0.00043
NM_000709.4(BCKDHA):c.288C>T (p.His96=)	rs148571328	0.00043
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr)	rs201082652	0.00043
NM_014363.6(SACS):c.2497G>A (p.Glu833Lys)	rs143433500	0.00043
NM_024312.5(GNPTAB):c.3598G>A (p.Glu1200Lys)	rs137853825	0.00043
NM_032520.5(GNPTG):c.741+6G>A	rs371060844	0.00043
NM_000023.4(SGCA):c.662G>A (p.Arg221His)	rs138254713	0.00042
NM_000135.4(FANCA):c.437C>G (p.Ser146Cys)	rs141367100	0.00042
NM_000203.5(IDUA):c.494G>A (p.Gly165Asp)	rs150763745	0.00042
NM_000260.4(MYO7A):c.186G>A (p.Thr62=)	rs368267301	0.00042
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr)	rs368341987	0.00042
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser)	rs190521996	0.00042
NM_000360.4(TH):c.363G>A (p.Pro121=)	rs370429316	0.00042
NM_000498.3(CYP11B2):c.1353C>T (p.Leu451=)	rs371126595	0.00042
NM_001039958.2(MESP2):c.185G>A (p.Arg62Gln)	rs566641514	0.00042
NM_001122769.3(LCA5):c.1642C>T (p.Pro548Ser)	rs185347145	0.00042
NM_001173990.3(TMEM216):c.289T>A (p.Phe97Ile)	rs201614099	0.00042
NM_001283009.2(RTEL1):c.1482-7C>T	rs189271525	0.00042
NM_001369.3(DNAH5):c.1250C>G (p.Thr417Ser)	rs149202369	0.00042
NM_001370658.1(BTD):c.68A>G (p.His23Arg)	rs146011150	0.00042
NM_003640.5(ELP1):c.948G>A (p.Pro316=)	rs148917889	0.00042
NM_012144.4(DNAI1):c.1145G>A (p.Ser382Asn)	rs141690214	0.00042
NM_014140.4(SMARCAL1):c.1727T>C (p.Ile576Thr)	rs138819354	0.00042
NM_020320.5(RARS2):c.773G>A (p.Arg258His)	rs145297855	0.00042
NM_024312.5(GNPTAB):c.2625G>A (p.Val875=)	rs141529327	0.00042
NM_152564.5(VPS13B):c.10313A>G (p.Asn3438Ser)	rs146460917	0.00042
NM_152564.5(VPS13B):c.505C>A (p.Leu169Ile)	rs376498106	0.00042
NM_182760.4(SUMF1):c.519A>G (p.Ala173=)	rs146050361	0.00042
NM_000033.4(ABCD1):c.1899C>T (p.Ser633=)	rs202125585	0.00041
NM_000053.4(ATP7B):c.1687G>A (p.Asp563Asn)	rs199875471	0.00041
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg)	rs121907998	0.00041
NM_000080.4(CHRNE):c.901G>A (p.Val301Met)	rs140023380	0.00041
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val)	rs138417003	0.00041
NM_000137.4(FAH):c.243G>A (p.Ala81=)	rs36122289	0.00041
NM_000263.4(NAGLU):c.1119G>T (p.Val373=)	rs371656965	0.00041
NM_000396.4(CTSK):c.684C>T (p.Pro228=)	rs142097792	0.00041
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg)	rs138977195	0.00041
NM_001164508.2(NEB):c.8801G>A (p.Arg2934His)	rs200307392	0.00041
NM_001360.3(DHCR7):c.400G>T (p.Val134Leu)	rs201466849	0.00041
NM_014049.5(ACAD9):c.152A>T (p.Lys51Ile)	rs149931573	0.00041
NM_022132.5(MCCC2):c.90G>T (p.Ser30=)	rs559384926	0.00041
NM_022132.5(MCCC2):c.995G>A (p.Arg332Gln)	rs144203670	0.00041
NM_133259.4(LRPPRC):c.4078G>A (p.Ala1360Thr)	rs147302249	0.00041
NM_138694.4(PKHD1):c.6774A>C (p.Val2258=)	rs34796823	0.00041
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys)	rs200179145	0.00041
NM_152564.5(VPS13B):c.921G>A (p.Met307Ile)	rs140709787	0.00041
NM_000057.4(BLM):c.816G>A (p.Lys272=)	rs139295905	0.00040
NM_000135.4(FANCA):c.3408+9C>G	rs377702890	0.00040
NM_000263.4(NAGLU):c.1557G>A (p.Arg519=)	rs150905331	0.00040
NM_000282.4(PCCA):c.1850T>C (p.Leu617Pro)	rs563417983	0.00040
NM_000359.3(TGM1):c.2160C>T (p.Thr720=)	rs139387079	0.00040
NM_000466.3(PEX1):c.2718+3A>G	rs370536529	0.00040
NM_000518.5(HBB):c.316-125A>G	rs63751175	0.00040
NM_000532.5(PCCB):c.914T>G (p.Ile305Ser)	rs144907014	0.00040
NM_000709.4(BCKDHA):c.288+10G>A	rs376894084	0.00040
NM_001142800.2(EYS):c.2598C>T (p.Cys866=)	rs183814213	0.00040
NM_001875.5(CPS1):c.4089G>T (p.Leu1363=)	rs368890059	0.00040
NM_004937.3(CTNS):c.561+4C>T	rs111256750	0.00040
NM_206933.4(USH2A):c.9340C>T (p.Pro3114Ser)	rs201071654	0.00040
NM_000070.3(CAPN3):c.1643G>A (p.Arg548His)	rs146309264	0.00039
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys)	rs201697532	0.00039
NM_000108.5(DLD):c.55C>G (p.Arg19Gly)	rs144038427	0.00039
NM_000133.4(F9):c.8G>A (p.Arg3His)	rs148060786	0.00039
NM_000156.6(GAMT):c.570+4C>T	rs199967562	0.00039
NM_000199.5(SGSH):c.734G>A (p.Arg245His)	rs104894635	0.00039
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp)	rs121908759	0.00039
NM_001164508.2(NEB):c.5503C>T (p.Arg1835Trp)	rs199694315	0.00039
NM_001369.3(DNAH5):c.11476C>T (p.Leu3826Phe)	rs146750552	0.00039
NM_001369.3(DNAH5):c.13778C>T (p.Thr4593Met)	rs142036266	0.00039
NM_001369.3(DNAH5):c.4525G>A (p.Val1509Met)	rs140345677	0.00039
NM_001384140.1(PCDH15):c.2884C>T (p.Arg962Cys)	rs201816080	0.00039
NM_001875.5(CPS1):c.2909A>G (p.Asn970Ser)	rs150485422	0.00039
NM_001876.4(CPT1A):c.336C>T (p.Thr112=)	rs61731902	0.00039
NM_003982.4(SLC7A7):c.999G>A (p.Arg333=)	rs146720775	0.00039
NM_130849.4(SLC39A4):c.390C>T (p.Leu130=)	rs782454483	0.00039
NM_138694.4(PKHD1):c.12198C>T (p.His4066=)	rs147051900	0.00039
NM_138694.4(PKHD1):c.334G>A (p.Gly112Arg)	rs149841071	0.00039
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter)	rs121909398	0.00039
NM_000046.5(ARSB):c.1123G>A (p.Asp375Asn)	rs200040980	0.00038
NM_000051.4(ATM):c.6795C>T (p.Phe2265=)	rs3218699	0.00038
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg)	rs55801750	0.00038
NM_000053.4(ATP7B):c.2785A>G (p.Ile929Val)	rs534960245	0.00038
NM_000094.4(COL7A1):c.7008G>A (p.Gly2336=)	rs117723065	0.00038
NM_000098.3(CPT2):c.1477G>A (p.Ala493Thr)	rs61731996	0.00038
NM_000098.3(CPT2):c.1941G>A (p.Met647Ile)	rs78266699	0.00038
NM_000136.3(FANCC):c.1374A>C (p.Arg458Ser)	rs56394801	0.00038
NM_000152.5(GAA):c.257C>G (p.Pro86Arg)	rs2229222	0.00038
NM_000206.3(IL2RG):c.282G>A (p.Ser94=)	rs142807857	0.00038
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_000527.5(LDLR):c.829G>A (p.Glu277Lys)	rs148698650	0.00038
NM_000532.5(PCCB):c.654+3A>C	rs199886085	0.00038
NM_000709.4(BCKDHA):c.63C>T (p.Ala21=)	rs140322984	0.00038
NM_001126108.2(SLC12A3):c.1698C>A (p.Asn566Lys)	rs757776621	0.00038
NM_001164508.2(NEB):c.21751C>G (p.Gln7251Glu)	rs373946758	0.00038
NM_001164508.2(NEB):c.23905C>T (p.Arg7969Cys)	rs201419564	0.00038
NM_001360.3(DHCR7):c.226G>A (p.Val76Ile)	rs368473756	0.00038
NM_001369.3(DNAH5):c.962C>T (p.Ser321Leu)	rs201077964	0.00038
NM_002529.4(NTRK1):c.1474G>A (p.Glu492Lys)	rs144901788	0.00038
NM_003742.4(ABCB11):c.2886A>G (p.Ala962=)	rs201087979	0.00038
NM_012203.2(GRHPR):c.666C>T (p.Thr222=)	rs146227450	0.00038
NM_012434.5(SLC17A5):c.957C>A (p.Ile319=)	rs147732875	0.00038
NM_138694.4(PKHD1):c.1234-9T>C	rs200707468	0.00038
NM_138694.4(PKHD1):c.9402G>A (p.Lys3134=)	rs143737660	0.00038
NM_152419.3(HGSNAT):c.1237C>T (p.Pro413Ser)	rs201346206	0.00038
NM_000027.4(AGA):c.885G>A (p.Lys295=)	rs34019119	0.00037
NM_000033.4(ABCD1):c.945G>A (p.Ser315=)	rs145545199	0.00037
NM_000135.4(FANCA):c.1904C>T (p.Ala635Val)	rs142217479	0.00037
NM_000154.2(GALK1):c.747G>A (p.Ala249=)	rs140053358	0.00037
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val)	rs111033303	0.00037
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val)	rs150212784	0.00037
NM_000536.4(RAG2):c.477C>T (p.Arg159=)	rs141659100	0.00037
NM_000784.4(CYP27A1):c.1419C>T (p.Val473=)	rs138596741	0.00037
NM_001142800.2(EYS):c.2553C>T (p.Asn851=)	rs771641817	0.00037
NM_001164508.2(NEB):c.21994G>A (p.Val7332Ile)	rs189609282	0.00037
NM_014844.5(TECPR2):c.516A>G (p.Pro172=)	rs142385149	0.00037
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp)	rs146379816	0.00036
NM_000030.3(AGXT):c.424-4T>C	rs369523966	0.00036
NM_000070.3(CAPN3):c.2409A>G (p.Gly803=)	rs143139259	0.00036
NM_000153.4(GALC):c.235C>T (p.Arg79Cys)	rs73312829	0.00036
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr)	rs147472391	0.00036
NM_000255.4(MMUT):c.1991C>T (p.Ala664Val)	rs137958217	0.00036
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)	rs62642937	0.00036
NM_000282.4(PCCA):c.2055A>G (p.Gln685=)	rs147568036	0.00036
NM_000383.4(AIRE):c.599C>T (p.Pro200Leu)	rs140196414	0.00036
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met)	rs141650598	0.00036
NM_000642.3(AGL):c.2941A>G (p.Ile981Val)	rs148981763	0.00036
NM_001164508.2(NEB):c.12688A>G (p.Ile4230Val)	rs532986882	0.00036
NM_001369.3(DNAH5):c.3179A>T (p.Lys1060Met)	rs145672251	0.00036
NM_001378454.1(ALMS1):c.4329G>T (p.Leu1443Phe)	rs192499639	0.00036
NM_001875.5(CPS1):c.154G>A (p.Asp52Asn)	rs141481633	0.00036
NM_001876.4(CPT1A):c.930G>C (p.Arg310=)	rs147373480	0.00036
NM_003060.4(SLC22A5):c.272A>G (p.Asn91Ser)	rs546442503	0.00036
NM_004937.3(CTNS):c.94G>A (p.Val32Ile)	rs146684402	0.00036
NM_005609.4(PYGM):c.1527G>T (p.Gly509=)	rs114730784	0.00036
NM_023036.6(DNAI2):c.1574C>T (p.Ala525Val)	rs145602856	0.00036
NM_024996.7(GFM1):c.1032C>T (p.Asn344=)	rs373952002	0.00036
NM_000018.4(ACADVL):c.1581G>A (p.Pro527=)	rs149436747	0.00035
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe)	rs56009889	0.00035
NM_000094.4(COL7A1):c.1836G>T (p.Thr612=)	rs151186709	0.00035
NM_000098.3(CPT2):c.588T>C (p.Pro196=)	rs140853350	0.00035
NM_000152.5(GAA):c.2109C>T (p.Tyr703=)	rs150728610	0.00035
NM_000198.4(HSD3B2):c.222C>T (p.Asp74=)	rs150892928	0.00035
NM_000203.5(IDUA):c.1577T>C (p.Leu526Pro)	rs781136336	0.00035
NM_000243.3(MEFV):c.1260+10C>T	rs104895137	0.00035
NM_000243.3(MEFV):c.372C>T (p.Pro124=)	rs104895078	0.00035
NM_000246.4(CIITA):c.456G>A (p.Pro152=)	rs151317882	0.00035
NM_000282.4(PCCA):c.2037C>T (p.Asp679=)	rs146870931	0.00035
NM_000303.3(PMM2):c.713G>A (p.Arg238His)	rs151319324	0.00035
NM_000489.6(ATRX):c.1825C>G (p.Pro609Ala)	rs186742436	0.00035
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg)	rs200321110	0.00035
NM_000521.4(HEXB):c.1248G>A (p.Ala416=)	rs137915238	0.00035
NM_001164508.2(NEB):c.2343G>A (p.Lys781=)	rs191610670	0.00035
NM_001164508.2(NEB):c.25463A>G (p.Lys8488Arg)	rs201714437	0.00035
NM_001369.3(DNAH5):c.6409C>A (p.Leu2137Ile)	rs181884470	0.00035
NM_001369.3(DNAH5):c.7531C>T (p.Arg2511Trp)	rs564040169	0.00035
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)	rs13073139	0.00035
NM_003640.5(ELP1):c.1911T>C (p.Val637=)	rs369645371	0.00035
NM_005373.3(MPL):c.305G>C (p.Arg102Pro)	rs28928907	0.00035
NM_005609.4(PYGM):c.1925G>A (p.Arg642His)	rs150098198	0.00035
NM_014140.4(SMARCAL1):c.2641A>C (p.Lys881Gln)	rs190386780	0.00035
NM_014363.6(SACS):c.3144A>G (p.Val1048=)	rs3751369	0.00035
NM_014844.5(TECPR2):c.3282G>A (p.Lys1094=)	rs199835341	0.00035
NM_138694.4(PKHD1):c.935G>A (p.Arg312Gln)	rs140781915	0.00035
NM_138694.4(PKHD1):c.9925A>G (p.Ile3309Val)	rs45627337	0.00035
NM_178138.6(LHX3):c.964G>A (p.Ala322Thr)	rs201356862	0.00035
NM_000018.4(ACADVL):c.1894C>T (p.Arg632Cys)	rs151254520	0.00034
NM_000033.4(ABCD1):c.1810G>A (p.Val604Ile)	rs151201945	0.00034
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro)	rs139552233	0.00034
NM_000057.4(BLM):c.1467G>A (p.Arg489=)	rs56257041	0.00034
NM_000070.3(CAPN3):c.246G>A (p.Pro82=)	rs146529432	0.00034
NM_000136.3(FANCC):c.973G>A (p.Ala325Thr)	rs201407189	0.00034
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys)	rs1801175	0.00034
NM_000152.5(GAA):c.2652G>A (p.Thr884=)	rs143642048	0.00034
NM_000255.4(MMUT):c.1333-8C>T	rs199555550	0.00034
NM_000255.4(MMUT):c.2196C>T (p.Ala732=)	rs201963242	0.00034
NM_000260.4(MYO7A):c.687C>T (p.Gly229=)	rs371142158	0.00034
NM_000360.4(TH):c.1255G>A (p.Val419Met)	rs184106392	0.00034
NM_000441.2(SLC26A4):c.1614+7A>G	rs199643344	0.00034
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro)	rs80338848	0.00034
NM_000466.3(PEX1):c.939T>C (p.His313=)	rs199647157	0.00034
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr)	rs147422190	0.00034
NM_000492.4(CFTR):c.1516A>G (p.Ile506Val)	rs1800091	0.00034
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met)	rs1800103	0.00034
NM_000492.4(CFTR):c.374T>C (p.Ile125Thr)	rs141723617	0.00034
NM_001142800.2(EYS):c.2137+1G>A	rs199740930	0.00034
NM_001142800.2(EYS):c.4121G>A (p.Arg1374Gln)	rs142187896	0.00034
NM_001164508.2(NEB):c.18530G>A (p.Arg6177His)	rs147159176	0.00034
NM_001164508.2(NEB):c.20162T>C (p.Leu6721Pro)	rs111517514	0.00034
NM_001164508.2(NEB):c.22370G>C (p.Ser7457Thr)	rs142454476	0.00034
NM_001384474.1(LOXHD1):c.1944C>T (p.Ser648=)	rs369039902	0.00034
NM_006118.4(HAX1):c.117_122dup (p.Glu40_Gly41dup)	rs781468690	0.00034
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)	rs140522266	0.00034
NM_033380.3(COL4A5):c.2215C>G (p.Pro739Ala)	rs104886164	0.00034
NM_206933.4(USH2A):c.5609G>A (p.Arg1870Gln)	rs111033409	0.00034
NM_206933.4(USH2A):c.6930G>A (p.Thr2310=)	rs146406377	0.00034
NM_000199.5(SGSH):c.144G>A (p.Pro48=)	rs145970971	0.00033
NM_000243.3(MEFV):c.2292G>T (p.Gly764=)	rs142352887	0.00033
NM_000246.4(CIITA):c.1926C>T (p.Val642=)	rs138376967	0.00033
NM_000271.5(NPC1):c.3717C>T (p.His1239=)	rs34624018	0.00033
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His)	rs75541969	0.00033
NM_001126108.2(SLC12A3):c.1543A>G (p.Ile515Val)	rs554432544	0.00033
NM_001130987.2(DYSF):c.5333C>A (p.Pro1778Gln)	rs145272777	0.00033
NM_001369.3(DNAH5):c.894C>G (p.Asn298Lys)	rs116995413	0.00033
NM_001384474.1(LOXHD1):c.1313A>G (p.Lys438Arg)	rs186138859	0.00033
NM_003060.4(SLC22A5):c.605T>C (p.Leu202Pro)	rs142447950	0.00033
NM_024649.5(BBS1):c.1036G>A (p.Val346Ile)	rs201872547	0.00033
NM_152564.5(VPS13B):c.4757A>G (p.Asn1586Ser)	rs147342579	0.00033
NM_182760.4(SUMF1):c.891C>T (p.Asn297=)	rs143754187	0.00033
NM_000033.4(ABCD1):c.1581C>T (p.Tyr527=)	rs145073701	0.00032
NM_000057.4(BLM):c.3041A>G (p.His1014Arg)	rs145022945	0.00032
NM_000070.3(CAPN3):c.232C>A (p.Pro78Thr)	rs138867099	0.00032
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser)	rs190598500	0.00032
NM_000094.4(COL7A1):c.3809C>T (p.Pro1270Leu)	rs145068043	0.00032
NM_000094.4(COL7A1):c.4585C>T (p.Arg1529Cys)	rs144557024	0.00032
NM_000199.5(SGSH):c.89-4G>A	rs375536965	0.00032
NM_000243.3(MEFV):c.1795A>G (p.Asn599Asp)	rs104895210	0.00032
NM_000466.3(PEX1):c.3503A>G (p.Asp1168Gly)	rs182452430	0.00032
NM_000481.4(AMT):c.101G>A (p.Arg34His)	rs138259479	0.00032
NM_000518.5(HBB):c.-106G>C	rs63750681	0.00032
NM_000528.4(MAN2B1):c.2404A>G (p.Ser802Gly)	rs141391488	0.00032
NM_000536.4(RAG2):c.644C>T (p.Thr215Ile)	rs35691292	0.00032
NM_001164508.2(NEB):c.18742C>T (p.Pro6248Ser)	rs189541265	0.00032
NM_001164508.2(NEB):c.71C>T (p.Pro24Leu)	rs185496567	0.00032
NM_001360.3(DHCR7):c.927C>A (p.Gly309=)	rs149974099	0.00032
NM_001369.3(DNAH5):c.7892C>T (p.Thr2631Met)	rs375200875	0.00032
NM_003640.5(ELP1):c.2436C>T (p.Asp812=)	rs113967847	0.00032
NM_005629.4(SLC6A8):c.1162G>A (p.Ala388Thr)	rs374163604	0.00032
NM_006623.4(PHGDH):c.296C>G (p.Pro99Arg)	rs182600362	0.00032
NM_012144.4(DNAI1):c.551A>G (p.Lys184Arg)	rs146203427	0.00032
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln)	rs28937873	0.00032
NM_014363.6(SACS):c.1562G>C (p.Ser521Thr)	rs190617851	0.00032
NM_014363.6(SACS):c.7725A>T (p.Ile2575=)	rs200735789	0.00032
NM_014844.5(TECPR2):c.1546G>A (p.Val516Met)	rs141697267	0.00032
NM_017739.4(POMGNT1):c.1539+1G>A	rs138642840	0.00032
NM_020166.5(MCCC1):c.686A>G (p.Glu229Gly)	rs142629318	0.00032
NM_022132.5(MCCC2):c.738+9A>G	rs776559643	0.00032
NM_024301.5(FKRP):c.898G>A (p.Val300Met)	rs563033008	0.00032
NM_033305.3(VPS13A):c.5594C>T (p.Thr1865Ile)	rs143449578	0.00032
NM_130849.4(SLC39A4):c.1126G>A (p.Ala376Thr)	rs200073988	0.00032
NM_138694.4(PKHD1):c.333C>T (p.Phe111=)	rs145815264	0.00032
NM_152564.5(VPS13B):c.1041A>G (p.Ser347=)	rs149176010	0.00032
NM_152564.5(VPS13B):c.885C>T (p.Gly295=)	rs143112539	0.00032
NM_206933.4(USH2A):c.1530C>T (p.Asp510=)	rs200940197	0.00032
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr)	rs1801256	0.00031
NM_000092.5(COL4A4):c.4195A>T (p.Met1399Leu)	rs149117087	0.00031
NM_000135.4(FANCA):c.480G>A (p.Met160Ile)	rs200603300	0.00031
NM_000152.5(GAA):c.2478G>A (p.Leu826=)	rs201183207	0.00031
NM_000152.5(GAA):c.841C>T (p.Arg281Trp)	rs142967546	0.00031
NM_000154.2(GALK1):c.-22T>C	rs545362817	0.00031
NM_000243.3(MEFV):c.1344A>C (p.Ala448=)	rs143337771	0.00031
NM_000260.4(MYO7A):c.448C>A (p.Arg150=)	rs121965079	0.00031
NM_000317.3(PTS):c.17G>T (p.Gly6Val)	rs138154701	0.00031
NM_000360.4(TH):c.627C>G (p.Ile209Met)	rs202149985	0.00031
NM_000383.4(AIRE):c.1303G>A (p.Gly435Arg)	rs373993732	0.00031
NM_000528.4(MAN2B1):c.719G>A (p.Arg240Gln)	rs11554970	0.00031
NM_000532.5(PCCB):c.180G>A (p.Lys60=)	rs140636870	0.00031
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)	rs121908096	0.00031
NM_001003722.2(GLE1):c.1641T>C (p.Tyr547=)	rs77053118	0.00031
NM_001369.3(DNAH5):c.1631C>T (p.Thr544Ile)	rs118026202	0.00031
NM_001369.3(DNAH5):c.9549G>A (p.Gln3183=)	rs147865593	0.00031
NM_004035.7(ACOX1):c.1418C>T (p.Thr473Ile)	rs200608977	0.00031
NM_006432.5(NPC2):c.273T>C (p.Asp91=)	rs151071820	0.00031
NM_012434.5(SLC17A5):c.1059G>A (p.Arg353=)	rs149017456	0.00031
NM_014140.4(SMARCAL1):c.2226G>A (p.Thr742=)	rs2271335	0.00031
NM_014363.6(SACS):c.10008A>G (p.Lys3336=)	rs148971954	0.00031
NM_014363.6(SACS):c.2580A>G (p.Gln860=)	rs41283958	0.00031
NM_138694.4(PKHD1):c.3838C>T (p.Arg1280Cys)	rs144042993	0.00031
NM_152419.3(HGSNAT):c.108G>A (p.Ala36=)	rs886062952	0.00031
NM_206933.4(USH2A):c.9915G>C (p.Glu3305Asp)	rs145278250	0.00031
NM_000022.4(ADA):c.384G>A (p.Glu128=)	rs572092463	0.00030
NM_000030.3(AGXT):c.145A>C (p.Met49Leu)	rs74205173	0.00030
NM_000057.4(BLM):c.43C>T (p.Arg15Cys)	rs148545569	0.00030
NM_000092.5(COL4A4):c.541G>T (p.Ala181Ser)	rs200707549	0.00030
NM_000094.4(COL7A1):c.853G>A (p.Val285Ile)	rs142568125	0.00030
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser)	rs138577661	0.00030
NM_000246.4(CIITA):c.3150-6C>T	rs192219239	0.00030
NM_000260.4(MYO7A):c.324C>T (p.Tyr108=)	rs116892396	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_000492.4(CFTR):c.3209G>A (p.Arg1070Gln)	rs78769542	0.00030
NM_000528.4(MAN2B1):c.1906C>T (p.Pro636Ser)	rs141276889	0.00030
NM_001360.3(DHCR7):c.376G>A (p.Val126Ile)	rs143587828	0.00030
NM_001369.3(DNAH5):c.2200C>G (p.Leu734Val)	rs139180192	0.00030
NM_002485.5(NBN):c.1690G>A (p.Glu564Lys)	rs72550742	0.00030
NM_003982.4(SLC7A7):c.91G>C (p.Val31Leu)	rs142956369	0.00030
NM_014244.5(ADAMTS2):c.2439C>T (p.His813=)	rs141661592	0.00030
NM_138413.4(HOGA1):c.185A>T (p.His62Leu)	rs150812556	0.00030
NM_152564.5(VPS13B):c.3075G>A (p.Thr1025=)	rs141637316	0.00030
NM_000022.4(ADA):c.975+8G>A	rs192148185	0.00029
NM_000027.4(AGA):c.979A>G (p.Ser327Gly)	rs369035792	0.00029
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys)	rs2229022	0.00029
NM_000051.4(ATM):c.4402G>A (p.Val1468Ile)	rs369903995	0.00029
NM_000094.4(COL7A1):c.2792G>A (p.Arg931His)	rs146934952	0.00029
NM_000094.4(COL7A1):c.8047-4C>T	rs185429200	0.00029
NM_000108.5(DLD):c.763A>C (p.Met255Leu)	rs533405046	0.00029
NM_000135.4(FANCA):c.1340C>T (p.Ser447Leu)	rs149551759	0.00029
NM_000135.4(FANCA):c.577C>G (p.Leu193Val)	rs141861208	0.00029
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys)	rs80338671	0.00029
NM_000243.3(MEFV):c.1827C>G (p.Pro609=)	rs104895135	0.00029
NM_000255.4(MMUT):c.878A>G (p.Gln293Arg)	rs138374956	0.00029
NM_000466.3(PEX1):c.1360-7C>T	rs371890000	0.00029
NM_000466.3(PEX1):c.3044A>C (p.Glu1015Ala)	rs185181696	0.00029
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser)	rs74315457	0.00029
NM_000520.6(HEXA):c.8G>C (p.Ser3Thr)	rs374524755	0.00029
NM_000527.5(LDLR):c.507C>T (p.Asn169=)	rs146354103	0.00029
NM_000642.3(AGL):c.4331A>G (p.Asn1444Ser)	rs143815159	0.00029
NM_000642.3(AGL):c.82+4A>C	rs765098686	0.00029
NM_000709.4(BCKDHA):c.294G>A (p.Pro98=)	rs142967869	0.00029
NM_001042432.2(CLN3):c.242C>T (p.Pro81Leu)	rs137906617	0.00029
NM_001126108.2(SLC12A3):c.1825+5G>A	rs368509876	0.00029
NM_001127671.2(LIFR):c.3221A>G (p.Asp1074Gly)	rs147058538	0.00029
NM_001142800.2(EYS):c.5577C>T (p.Pro1859=)	rs747911999	0.00029
NM_001142800.2(EYS):c.6025A>G (p.Lys2009Glu)	rs559078881	0.00029
NM_001164508.2(NEB):c.20098C>A (p.Leu6700Ile)	rs202139330	0.00029
NM_001164508.2(NEB):c.5696C>T (p.Thr1899Ile)	rs202234374	0.00029
NM_001164508.2(NEB):c.6817A>G (p.Lys2273Glu)	rs199700878	0.00029
NM_001164508.2(NEB):c.8125G>A (p.Val2709Ile)	rs368637389	0.00029
NM_001360.3(DHCR7):c.28C>G (p.Pro10Ala)	rs139166382	0.00029
NM_001360.3(DHCR7):c.988G>A (p.Val330Met)	rs139724817	0.00029
NM_001369.3(DNAH5):c.5413C>T (p.Arg1805Cys)	rs142155986	0.00029
NM_001369.3(DNAH5):c.9461A>C (p.Asp3154Ala)	rs149187750	0.00029
NM_001384474.1(LOXHD1):c.5400-3C>T	rs528236655	0.00029
NM_005957.5(MTHFR):c.1719C>T (p.Thr573=)	rs149585376	0.00029
NM_006118.4(HAX1):c.428G>C (p.Gly143Ala)	rs755031266	0.00029
NM_012144.4(DNAI1):c.1104C>T (p.Tyr368=)	rs140711767	0.00029
NM_014140.4(SMARCAL1):c.1948G>A (p.Val650Ile)	rs200734842	0.00029
NM_014249.4(NR2E3):c.227G>A (p.Arg76Gln)	rs104894493	0.00029
NM_014252.4(SLC25A15):c.345C>T (p.Phe115=)	rs35434090	0.00029
NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu)	rs137905181	0.00029
NM_014844.5(TECPR2):c.2021C>T (p.Pro674Leu)	rs149022686	0.00029
NM_023036.6(DNAI2):c.828G>A (p.Thr276=)	rs149918986	0.00029
NM_033305.3(VPS13A):c.2124A>G (p.Ser708=)	rs199682779	0.00029
NM_138694.4(PKHD1):c.2168G>T (p.Arg723Leu)	rs150597050	0.00029
NM_152564.5(VPS13B):c.3751A>G (p.Thr1251Ala)	rs184693266	0.00029
NM_152564.5(VPS13B):c.7669G>A (p.Asp2557Asn)	rs773242093	0.00029
NM_206933.4(USH2A):c.3320T>G (p.Ile1107Ser)	rs146372677	0.00029
NM_000033.4(ABCD1):c.181G>A (p.Ala61Thr)	rs782134465	0.00028
NM_000049.4(ASPA):c.832G>A (p.Val278Met)	rs140581464	0.00028
NM_000051.4(ATM):c.7004C>T (p.Thr2335Ile)	rs3092831	0.00028
NM_000271.5(NPC1):c.3246-8C>T	rs145227129	0.00028
NM_000274.4(OAT):c.1015-6A>G	rs561800688	0.00028
NM_000487.6(ARSA):c.982G>A (p.Val328Met)	rs143994992	0.00028
NM_000492.4(CFTR):c.3558A>G (p.Gln1186=)	rs1800121	0.00028
NM_000531.6(OTC):c.941A>C (p.Glu314Ala)	rs137899554	0.00028
NM_001079802.2(FKTN):c.25G>T (p.Val9Phe)	rs145387221	0.00028
NM_001164508.2(NEB):c.5411C>A (p.Ala1804Glu)	rs78420579	0.00028
NM_001365088.1(SLC12A6):c.2106T>C (p.Tyr702=)	rs145775351	0.00028
NM_001384474.1(LOXHD1):c.4824C>G (p.Val1608=)	rs114557260	0.00028
NM_001386140.1(MTTP):c.111G>A (p.Thr37=)	rs147921439	0.00028
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu)	rs144600401	0.00028
NM_004629.2(FANCG):c.1545C>T (p.Ala515=)	rs201422773	0.00028
NM_033305.3(VPS13A):c.1528C>T (p.Leu510=)	rs147954757	0.00028
NM_052845.4(MMAB):c.444G>A (p.Gly148=)	rs117269384	0.00028
NM_172250.3(MMAA):c.393A>T (p.Arg131Ser)	rs371714495	0.00028
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala)	rs28940279	0.00027
NM_000053.4(ATP7B):c.3324C>T (p.Asn1108=)	rs372456815	0.00027
NM_000098.3(CPT2):c.500G>A (p.Arg167Gln)	rs144760921	0.00027
NM_000137.4(FAH):c.1062+5G>A	rs80338901	0.00027
NM_000158.4(GBE1):c.990C>T (p.Ser330=)	rs371194644	0.00027
NM_000170.3(GLDC):c.2874C>T (p.Ser958=)	rs146339375	0.00027
NM_000199.5(SGSH):c.999C>T (p.Tyr333=)	rs149139346	0.00027
NM_000303.3(PMM2):c.366C>T (p.Phe122=)	rs145714866	0.00027
NM_000303.3(PMM2):c.722G>C (p.Cys241Ser)	rs80338709	0.00027
NM_000360.4(TH):c.594G>T (p.Val198=)	rs544661832	0.00027
NM_000481.4(AMT):c.825T>A (p.Asn275Lys)	rs144241950	0.00027
NM_000642.3(AGL):c.1333A>G (p.Met445Val)	rs140375476	0.00027
NM_000642.3(AGL):c.4450G>A (p.Val1484Ile)	rs75076115	0.00027
NM_001164508.2(NEB):c.8024A>G (p.Asp2675Gly)	rs183354017	0.00027
NM_001384474.1(LOXHD1):c.4031G>T (p.Cys1344Phe)	rs368870055	0.00027
NM_001692.4(ATP6V1B1):c.40G>A (p.Gly14Ser)	rs111306070	0.00027
NM_001875.5(CPS1):c.2275T>A (p.Ser759Thr)	rs150012540	0.00027
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser)	rs104895032	0.00027
NM_004646.4(NPHS1):c.1610C>T (p.Thr537Met)	rs368913905	0.00027
NM_014140.4(SMARCAL1):c.1785C>T (p.Ile595=)	rs145825654	0.00027
NM_031885.5(BBS2):c.1134A>G (p.Pro378=)	rs185178790	0.00027
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg)	rs121908641	0.00027
NM_138694.4(PKHD1):c.3984C>T (p.Val1328=)	rs182468850	0.00027
NM_152564.5(VPS13B):c.11114A>T (p.Glu3705Val)	rs376308074	0.00027
NM_152564.5(VPS13B):c.4452T>C (p.Asn1484=)	rs148033080	0.00027
NM_000018.4(ACADVL):c.1533-4T>A	rs369986567	0.00026
NM_000053.4(ATP7B):c.3368C>T (p.Pro1123Leu)	rs146623472	0.00026
NM_000057.4(BLM):c.191A>T (p.Asp64Val)	rs140382474	0.00026
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr)	rs148044781	0.00026
NM_000071.3(CBS):c.1330G>A (p.Asp444Asn)	rs28934891	0.00026
NM_000092.5(COL4A4):c.1435G>C (p.Gly479Arg)	rs202210475	0.00026
NM_000094.4(COL7A1):c.7124T>A (p.Val2375Asp)	rs142059751	0.00026
NM_000135.4(FANCA):c.2390C>T (p.Ala797Val)	rs138248569	0.00026
NM_000152.5(GAA):c.2332-10C>G	rs373606162	0.00026
NM_000152.5(GAA):c.2736G>A (p.Ala912=)	rs142472738	0.00026
NM_000317.3(PTS):c.195T>C (p.Pro65=)	rs143472856	0.00026
NM_000481.4(AMT):c.635T>C (p.Val212Ala)	rs201141125	0.00026
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)	rs143992984	0.00026
NM_001126108.2(SLC12A3):c.742-6C>T	rs370741134	0.00026
NM_001142800.2(EYS):c.9237A>G (p.Leu3079=)	rs139944387	0.00026
NM_001164508.2(NEB):c.10341G>A (p.Met3447Ile)	rs370053963	0.00026
NM_001164508.2(NEB):c.23013C>T (p.Ser7671=)	rs370873040	0.00026
NM_001164508.2(NEB):c.24897G>C (p.Glu8299Asp)	rs202145313	0.00026
NM_001352514.2(HLCS):c.1073C>T (p.Thr358Met)	rs142524025	0.00026
NM_001352514.2(HLCS):c.2465A>G (p.His822Arg)	rs148868421	0.00026
NM_001369.3(DNAH5):c.2431+5G>A	rs369244905	0.00026
NM_001369.3(DNAH5):c.367C>T (p.Leu123Phe)	rs148017278	0.00026
NM_001369.3(DNAH5):c.382G>A (p.Val128Met)	rs200553244	0.00026
NM_001369.3(DNAH5):c.4961G>A (p.Arg1654Gln)	rs150868941	0.00026
NM_001384474.1(LOXHD1):c.231C>T (p.Leu77=)	rs200306249	0.00026
NM_001384474.1(LOXHD1):c.6243T>C (p.Cys2081=)	rs199645176	0.00026
NM_001875.5(CPS1):c.2421G>A (p.Glu807=)	rs140726293	0.00026
NM_001876.4(CPT1A):c.693+7C>T	rs370181471	0.00026
NM_002225.5(IVD):c.400A>G (p.Ile134Val)	rs151118565	0.00026
NM_002435.3(MPI):c.1050G>A (p.Thr350=)	rs145431554	0.00026
NM_003060.4(SLC22A5):c.641C>T (p.Ala214Val)	rs386134199	0.00026
NM_005609.4(PYGM):c.2268C>T (p.Pro756=)	rs144229867	0.00026
NM_012203.2(GRHPR):c.468C>T (p.Val156=)	rs142509393	0.00026
NM_014244.5(ADAMTS2):c.724G>A (p.Ala242Thr)	rs372103269	0.00026
NM_014297.5(ETHE1):c.150G>C (p.Leu50=)	rs142193567	0.00026
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg)	rs149798764	0.00026
NM_138694.4(PKHD1):c.11400G>A (p.Gly3800=)	rs149427926	0.00026
NM_206933.4(USH2A):c.10374G>A (p.Thr3458=)	rs137963595	0.00026
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr)	rs150757822	0.00025
NM_000052.7(ATP7A):c.2131G>A (p.Val711Ile)	rs782268170	0.00025
NM_000057.4(BLM):c.2838A>G (p.Thr946=)	rs200850440	0.00025
NM_000071.3(CBS):c.33G>A (p.Gly11=)	rs567323664	0.00025
NM_000080.4(CHRNE):c.23T>C (p.Val8Ala)	rs199807050	0.00025
NM_000094.4(COL7A1):c.3086C>T (p.Thr1029Met)	rs376090628	0.00025
NM_000199.5(SGSH):c.6C>T (p.Ser2=)	rs1043643087	0.00025
NM_000360.4(TH):c.679G>A (p.Glu227Lys)	rs536382000	0.00025
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)	rs61750420	0.00025
NM_000492.4(CFTR):c.4197C>G (p.Leu1399=)	rs79688066	0.00025
NM_000527.5(LDLR):c.1875C>T (p.Asn625=)	rs137853962	0.00025
NM_000528.4(MAN2B1):c.1158G>A (p.Gln386=)	rs112829030	0.00025
NM_001164508.2(NEB):c.24453G>A (p.Glu8151=)	rs372540293	0.00025
NM_001164508.2(NEB):c.25163G>A (p.Arg8388His)	rs139333406	0.00025
NM_001164508.2(NEB):c.3007G>C (p.Val1003Leu)	rs149471462	0.00025
NM_001243279.3(ACSF3):c.1456G>A (p.Ala486Thr)	rs192339782	0.00025
NM_001360.3(DHCR7):c.586A>G (p.Met196Val)	rs200474791	0.00025
NM_001369.3(DNAH5):c.12367C>T (p.His4123Tyr)	rs151145750	0.00025
NM_001369.3(DNAH5):c.12523G>A (p.Val4175Met)	rs148123430	0.00025
NM_001399.5(EDA):c.464G>A (p.Arg155His)	rs144403117	0.00025
NM_002454.3(MTRR):c.906T>C (p.Asn302=)	rs144729918	0.00025
NM_003640.5(ELP1):c.3701-6C>G	rs148535504	0.00025
NM_005609.4(PYGM):c.1870G>A (p.Val624Ile)	rs143217651	0.00025
NM_006019.4(TCIRG1):c.2193C>T (p.Thr731=)	rs141601593	0.00025
NM_007259.5(VPS45):c.625G>T (p.Val209Phe)	rs201955039	0.00025
NM_014844.5(TECPR2):c.978C>T (p.Ser326=)	rs142082203	0.00025
NM_020320.5(RARS2):c.1637C>T (p.Pro546Leu)	rs142348911	0.00025
NM_023036.6(DNAI2):c.1065G>A (p.Lys355=)	rs551163932	0.00025
NM_025216.3(WNT10A):c.234C>T (p.His78=)	rs199802454	0.00025
NM_138694.4(PKHD1):c.130+9G>A	rs367608402	0.00025
NM_138694.4(PKHD1):c.9493G>A (p.Val3165Met)	rs199621305	0.00025
NM_152564.5(VPS13B):c.11884C>G (p.Pro3962Ala)	rs201483764	0.00025
NM_152564.5(VPS13B):c.3204A>G (p.Thr1068=)	rs140090983	0.00025
NM_000033.4(ABCD1):c.1117A>G (p.Lys373Glu)	rs368606000	0.00024
NM_000092.5(COL4A4):c.193-9C>G	rs190570269	0.00024
NM_000094.4(COL7A1):c.4636-3C>T	rs200981821	0.00024
NM_000135.4(FANCA):c.41A>G (p.Asp14Gly)	rs762648754	0.00024
NM_000203.5(IDUA):c.1765G>A (p.Gly589Ser)	rs144941693	0.00024
NM_000237.3(LPL):c.998G>A (p.Arg333His)	rs144466625	0.00024
NM_000255.4(MMUT):c.1008G>A (p.Met336Ile)	rs150095448	0.00024
NM_000271.5(NPC1):c.1011G>T (p.Arg337=)	rs147795644	0.00024
NM_000282.4(PCCA):c.660C>T (p.Ala220=)	rs145826296	0.00024
NM_000352.6(ABCC8):c.105G>A (p.Pro35=)	rs199925058	0.00024
NM_000352.6(ABCC8):c.3111C>T (p.Thr1037=)	rs201662945	0.00024
NM_000359.3(TGM1):c.167C>T (p.Ala56Val)	rs147479810	0.00024
NM_000478.6(ALPL):c.1002C>T (p.Gly334=)	rs370122334	0.00024
NM_000481.4(AMT):c.152C>T (p.Ala51Val)	rs34812788	0.00024
NM_001164508.2(NEB):c.22108C>G (p.Pro7370Ala)	rs200304547	0.00024
NM_001164508.2(NEB):c.23648C>T (p.Ser7883Leu)	rs202191938	0.00024
NM_001164508.2(NEB):c.5181C>T (p.Tyr1727=)	rs35016946	0.00024
NM_001360.3(DHCR7):c.987C>T (p.Pro329=)	rs145901607	0.00024
NM_001365088.1(SLC12A6):c.2565G>A (p.Thr855=)	rs201062811	0.00024
NM_001369.3(DNAH5):c.10435G>A (p.Ala3479Thr)	rs143295106	0.00024
NM_001369.3(DNAH5):c.7684A>T (p.Ile2562Phe)	rs151287187	0.00024
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu)	rs146136265	0.00024
NM_001875.5(CPS1):c.1200A>G (p.Lys400=)	rs141545954	0.00024
NM_012434.5(SLC17A5):c.6G>A (p.Arg2=)	rs374582872	0.00024
NM_014363.6(SACS):c.8577C>T (p.His2859=)	rs140016265	0.00024
NM_020320.5(RARS2):c.726A>G (p.Gln242=)	rs145499324	0.00024
NM_023036.6(DNAI2):c.854C>T (p.Thr285Met)	rs141079076	0.00024
NM_031885.5(BBS2):c.1104C>T (p.Asn368=)	rs141731677	0.00024
NM_138413.4(HOGA1):c.554C>T (p.Thr185Met)	rs115282699	0.00024
NM_138694.4(PKHD1):c.3303A>G (p.Thr1101=)	rs148335285	0.00024
NM_138694.4(PKHD1):c.6216T>G (p.Pro2072=)	rs148817026	0.00024
NM_152564.5(VPS13B):c.1440C>T (p.Phe480=)	rs141324814	0.00024
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val)	rs137852849	0.00024
NM_000018.4(ACADVL):c.*8C>T	rs370513576	0.00023
NM_000023.4(SGCA):c.680C>G (p.Pro227Arg)	rs201131924	0.00023
NM_000033.4(ABCD1):c.249C>T (p.Phe83=)	rs782628755	0.00023
NM_000057.4(BLM):c.4220G>A (p.Arg1407Lys)	rs557057587	0.00023
NM_000098.3(CPT2):c.1519G>A (p.Val507Ile)	rs142600166	0.00023
NM_000102.4(CYP17A1):c.1458C>T (p.Ile486=)	rs147557447	0.00023
NM_000153.4(GALC):c.1717A>G (p.Thr573Ala)	rs200219480	0.00023
NM_000154.2(GALK1):c.447G>A (p.Thr149=)	rs765744088	0.00023
NM_000206.3(IL2RG):c.78A>T (p.Thr26=)	rs147424359	0.00023
NM_000232.5(SGCB):c.31C>G (p.Gln11Glu)	rs752492870	0.00023
NM_000246.4(CIITA):c.2817-10T>C	rs75381106	0.00023
NM_000284.4(PDHA1):c.894A>G (p.Gly298=)	rs1329322647	0.00023
NM_000360.4(TH):c.1368C>T (p.Ser456=)	rs45538536	0.00023
NM_000383.4(AIRE):c.226G>A (p.Asp76Asn)	rs146810389	0.00023
NM_000709.4(BCKDHA):c.744C>T (p.Ala248=)	rs137960127	0.00023
NM_001142800.2(EYS):c.2813A>G (p.Lys938Arg)	rs367857088	0.00023
NM_001164508.2(NEB):c.18948T>A (p.Asp6316Glu)	rs370206339	0.00023
NM_001164508.2(NEB):c.1899A>T (p.Arg633Ser)	rs77826191	0.00023
NM_001243279.3(ACSF3):c.1502-4G>A	rs111414659	0.00023
NM_001283009.2(RTEL1):c.1581C>T (p.Ser527=)	rs78258482	0.00023
NM_001365088.1(SLC12A6):c.1012C>T (p.Arg338Cys)	rs77122016	0.00023
NM_001369.3(DNAH5):c.10066T>C (p.Leu3356=)	rs138441172	0.00023
NM_001369.3(DNAH5):c.13174T>C (p.Phe4392Leu)	rs369714206	0.00023
NM_001378454.1(ALMS1):c.11070C>T (p.Gly3690=)	rs371329585	0.00023
NM_002435.3(MPI):c.908T>C (p.Ile303Thr)	rs139866632	0.00023
NM_002529.4(NTRK1):c.641G>A (p.Arg214Gln)	rs200132482	0.00023
NM_004646.4(NPHS1):c.65C>T (p.Ala22Val)	rs116617171	0.00023
NM_020320.5(RARS2):c.207A>G (p.Ala69=)	rs568483789	0.00023
NM_022132.5(MCCC2):c.1657A>G (p.Ile553Val)	rs143156315	0.00023
NM_024312.5(GNPTAB):c.70T>G (p.Phe24Val)	rs141329633	0.00023
NM_032520.5(GNPTG):c.502G>A (p.Val168Ile)	rs190614894	0.00023
NM_130849.4(SLC39A4):c.615C>T (p.Phe205=)	rs201681875	0.00023
NM_138694.4(PKHD1):c.1257C>T (p.Val419=)	rs374650666	0.00023
NM_138694.4(PKHD1):c.3090G>A (p.Ala1030=)	rs557162970	0.00023
NM_152564.5(VPS13B):c.2124T>C (p.Ala708=)	rs201650333	0.00023
NM_205861.3(DHDDS):c.908C>T (p.Ser303Leu)	rs141852437	0.00023
NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile)	rs143240767	0.00023
NM_000048.4(ASL):c.299T>C (p.Ile100Thr)	rs202142867	0.00022
NM_000053.4(ATP7B):c.3105C>T (p.Gly1035=)	rs200324179	0.00022
NM_000112.4(SLC26A2):c.1512G>A (p.Met504Ile)	rs76668544	0.00022
NM_000135.4(FANCA):c.1871C>G (p.Ala624Gly)	rs146491000	0.00022
NM_000135.4(FANCA):c.3801C>T (p.Gly1267=)	rs143772894	0.00022
NM_000137.4(FAH):c.747A>G (p.Pro249=)	rs138757552	0.00022
NM_000195.5(HPS1):c.2052C>T (p.Ala684=)	rs576260502	0.00022
NM_000235.4(LIPA):c.1009A>G (p.Thr337Ala)	rs143793106	0.00022
NM_000237.3(LPL):c.687T>C (p.His229=)	rs45607438	0.00022
NM_000383.4(AIRE):c.589G>A (p.Gly197Arg)	rs148012328	0.00022
NM_000466.3(PEX1):c.1725G>A (p.Leu575=)	rs150667796	0.00022
NM_000492.4(CFTR):c.3854C>T (p.Ala1285Val)	rs397508617	0.00022
NM_000518.5(HBB):c.246C>A (p.Leu82=)	rs145669504	0.00022
NM_000532.5(PCCB):c.544-5G>C	rs372351800	0.00022
NM_001142800.2(EYS):c.3443+1G>T	rs373441420	0.00022
NM_001164508.2(NEB):c.17845-5G>A	rs373390654	0.00022
NM_001164508.2(NEB):c.23278A>G (p.Asn7760Asp)	rs201189784	0.00022
NM_001164508.2(NEB):c.3443C>T (p.Ala1148Val)	rs200637566	0.00022
NM_001369.3(DNAH5):c.11320T>C (p.Ser3774Pro)	rs766646786	0.00022
NM_001369.3(DNAH5):c.6731A>T (p.Lys2244Met)	rs187023993	0.00022
NM_001384474.1(LOXHD1):c.1571G>A (p.Arg524His)	rs187658135	0.00022
NM_001384474.1(LOXHD1):c.1887C>T (p.Ser629=)	rs189550119	0.00022
NM_001384474.1(LOXHD1):c.1970+9G>A	rs532438706	0.00022
NM_001386140.1(MTTP):c.490A>G (p.Thr164Ala)	rs563558722	0.00022
NM_002435.3(MPI):c.573C>T (p.Ala191=)	rs200903491	0.00022
NM_005609.4(PYGM):c.2177+7G>A	rs201366697	0.00022
NM_014244.5(ADAMTS2):c.2109C>T (p.Ile703=)	rs200210415	0.00022
NM_032520.5(GNPTG):c.67G>C (p.Gly23Arg)	rs547624231	0.00022
NM_054012.4(ASS1):c.174+4C>A	rs368133957	0.00022
NM_152564.5(VPS13B):c.11787C>T (p.Asn3929=)	rs147710096	0.00022
NM_152618.3(BBS12):c.1257C>T (p.Ser419=)	rs34652786	0.00022
NM_152618.3(BBS12):c.1499T>C (p.Val500Ala)	rs145392789	0.00022
NC_000011.10:g.5227159G>A	rs33944208	0.00021
NM_000019.4(ACAT1):c.979A>G (p.Ile327Val)	rs150038447	0.00021
NM_000051.4(ATM):c.2281A>T (p.Thr761Ser)	rs2235011	0.00021
NM_000051.4(ATM):c.4871A>G (p.His1624Arg)	rs56354559	0.00021
NM_000094.4(COL7A1):c.4508C>T (p.Ala1503Val)	rs150332158	0.00021
NM_000094.4(COL7A1):c.7417G>A (p.Glu2473Lys)	rs199819125	0.00021
NM_000098.3(CPT2):c.912G>T (p.Gln304His)	rs141553491	0.00021
NM_000151.4(G6PC1):c.909C>T (p.Leu303=)	rs368282218	0.00021
NM_000152.5(GAA):c.2152G>A (p.Val718Ile)	rs141017311	0.00021
NM_000152.5(GAA):c.2245G>T (p.Ala749Ser)	rs148311222	0.00021
NM_000152.5(GAA):c.922C>T (p.His308Tyr)	rs112025212	0.00021
NM_000170.3(GLDC):c.1581-5C>T	rs184463452	0.00021
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys)	rs104894636	0.00021
NM_000263.4(NAGLU):c.2043G>A (p.Ala681=)	rs115401566	0.00021
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)	rs80358257	0.00021
NM_000271.5(NPC1):c.501A>G (p.Ser167=)	rs202148667	0.00021
NM_000352.6(ABCC8):c.3345G>A (p.Thr1115=)	rs186634115	0.00021
NM_000359.3(TGM1):c.944G>T (p.Arg315Leu)	rs143473912	0.00021
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met)	rs150326995	0.00021
NM_000441.2(SLC26A4):c.1544+9C>T	rs368970459	0.00021
NM_000466.3(PEX1):c.2045C>T (p.Ala682Val)	rs145350631	0.00021
NM_000466.3(PEX1):c.3106G>T (p.Ala1036Ser)	rs754130942	0.00021
NM_000518.5(HBB):c.294C>T (p.His98=)	rs34515413	0.00021
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)	rs139791325	0.00021
NM_001017420.3(ESCO2):c.867A>G (p.Ser289=)	rs535236969	0.00021
NM_001033855.3(DCLRE1C):c.1368C>T (p.Asn456=)	rs144654282	0.00021
NM_001142800.2(EYS):c.6876T>C (p.Asn2292=)	rs774188028	0.00021
NM_001164508.2(NEB):c.21664T>A (p.Ser7222Thr)	rs191722579	0.00021
NM_001164508.2(NEB):c.22432C>T (p.Arg7478Cys)	rs202050860	0.00021
NM_001243279.3(ACSF3):c.1704G>A (p.Ala568=)	rs539500659	0.00021
NM_001369.3(DNAH5):c.39C>T (p.Ser13=)	rs370788337	0.00021
NM_001369.3(DNAH5):c.4082C>G (p.Pro1361Arg)	rs145533843	0.00021
NM_001369.3(DNAH5):c.8999G>A (p.Arg3000Gln)	rs137949961	0.00021
NM_001875.5(CPS1):c.234A>G (p.Gly78=)	rs182678639	0.00021
NM_001875.5(CPS1):c.3626T>C (p.Met1209Thr)	rs200569046	0.00021
NM_001875.5(CPS1):c.5C>T (p.Thr2Met)	rs150314086	0.00021
NM_003060.4(SLC22A5):c.1643G>A (p.Arg548Lys)	rs150775371	0.00021
NM_005373.3(MPL):c.209C>T (p.Pro70Leu)	rs61754776	0.00021
NM_005957.5(MTHFR):c.3G>C (p.Met1Ile)	rs373076763	0.00021
NM_014244.5(ADAMTS2):c.2292C>T (p.Ala764=)	rs188566209	0.00021
NM_014244.5(ADAMTS2):c.770C>A (p.Ala257Glu)	rs370679548	0.00021
NM_018006.5(TRMU):c.1158G>A (p.Leu386=)	rs79874854	0.00021
NM_023036.6(DNAI2):c.1599C>T (p.Thr533=)	rs139915367	0.00021
NM_023036.6(DNAI2):c.571C>T (p.Pro191Ser)	rs201457010	0.00021
NM_138694.4(PKHD1):c.8141G>A (p.Arg2714Gln)	rs371665285	0.00021
NM_201548.5(CERKL):c.900T>C (p.His300=)	rs183252158	0.00021
NM_213653.4(HJV):c.435G>C (p.Pro145=)	rs370184725	0.00021
NM_000094.4(COL7A1):c.630C>T (p.Leu210=)	rs117857033	0.00020
NM_000098.3(CPT2):c.1943T>C (p.Phe648Ser)	rs138125299	0.00020
NM_000128.4(F11):c.1028+9T>C	rs376630194	0.00020
NM_000135.4(FANCA):c.4302C>T (p.Ala1434=)	rs142784426	0.00020
NM_000203.5(IDUA):c.1002G>A (p.Leu334=)	rs370582480	0.00020
NM_000203.5(IDUA):c.1332C>T (p.Asp444=)	rs545473192	0.00020
NM_000277.3(PAH):c.165T>G (p.Phe55Leu)	rs199475598	0.00020
NM_000382.3(ALDH3A2):c.1188T>G (p.Ser396=)	rs144496536	0.00020
NM_000391.4(TPP1):c.796C>T (p.Arg266Trp)	rs200138397	0.00020
NM_000441.2(SLC26A4):c.1491T>C (p.Gly497=)	rs150860491	0.00020
NM_001003722.2(GLE1):c.643-4A>G	rs369804957	0.00020
NM_001164508.2(NEB):c.17897C>T (p.Pro5966Leu)	rs368912483	0.00020
NM_001164508.2(NEB):c.6381T>A (p.Asp2127Glu)	rs368302286	0.00020
NM_001378454.1(ALMS1):c.3092C>G (p.Thr1031Ser)	rs199922877	0.00020
NM_001876.4(CPT1A):c.1364A>C (p.Lys455Thr)	rs189174414	0.00020
NM_002529.4(NTRK1):c.357C>T (p.Arg119=)	rs149960336	0.00020
NM_012144.4(DNAI1):c.1454C>T (p.Thr485Met)	rs137935543	0.00020
NM_013339.4(ALG6):c.882T>C (p.Arg294=)	rs145894044	0.00020
NM_014297.5(ETHE1):c.184G>A (p.Ala62Thr)	rs138958351	0.00020
NM_014363.6(SACS):c.7200T>C (p.Phe2400=)	rs148544893	0.00020
NM_020166.5(MCCC1):c.2171C>T (p.Ser724Leu)	rs201806708	0.00020
NM_023036.6(DNAI2):c.1723-1G>T	rs201909971	0.00020
NM_033380.3(COL4A5):c.2692A>G (p.Met898Val)	rs104886192	0.00020
NM_130849.4(SLC39A4):c.192+19G>A	rs368996660	0.00020
NM_138694.4(PKHD1):c.9478C>T (p.His3160Tyr)	rs147351244	0.00020
NM_152618.3(BBS12):c.1502C>T (p.Thr501Met)	rs138011813	0.00020
NM_206933.4(USH2A):c.1539C>T (p.Thr513=)	rs199939890	0.00020
NM_000022.4(ADA):c.986C>T (p.Ala329Val)	rs121908715	0.00019
NM_000023.4(SGCA):c.739G>A (p.Val247Met)	rs143570936	0.00019
NM_000030.3(AGXT):c.489G>A (p.Leu163=)	rs147601535	0.00019
NM_000048.4(ASL):c.655+8G>A	rs200203985	0.00019
NM_000051.4(ATM):c.1272T>C (p.Pro424=)	rs35578748	0.00019
NM_000051.4(ATM):c.2495G>A (p.Arg832His)	rs199875915	0.00019
NM_000094.4(COL7A1):c.1241-4G>A	rs201605314	0.00019
NM_000128.4(F11):c.1767G>T (p.Leu589=)	rs142054643	0.00019
NM_000135.4(FANCA):c.2236G>T (p.Ala746Ser)	rs575108446	0.00019
NM_000135.4(FANCA):c.3551G>C (p.Arg1184Pro)	rs147672303	0.00019
NM_000151.4(G6PC1):c.992C>T (p.Ala331Val)	rs149486847	0.00019
NM_000152.5(GAA):c.2156C>A (p.Ala719Glu)	rs146762316	0.00019
NM_000152.5(GAA):c.693-4G>T	rs200088236	0.00019
NM_000153.4(GALC):c.1573G>A (p.Glu525Lys)	rs146286491	0.00019
NM_000199.5(SGSH):c.570C>T (p.Tyr190=)	rs149951602	0.00019
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe)	rs150518260	0.00019
NM_000246.4(CIITA):c.1230G>A (p.Pro410=)	rs199476069	0.00019
NM_000252.3(MTM1):c.1052A>G (p.Lys351Arg)	rs150430628	0.00019
NM_000271.5(NPC1):c.2524T>C (p.Phe842Leu)	rs190298665	0.00019
NM_000277.3(PAH):c.399T>C (p.Asn133=)	rs145692106	0.00019
NM_000277.3(PAH):c.506G>A (p.Arg169His)	rs199475679	0.00019
NM_000303.3(PMM2):c.90C>G (p.Asp30Glu)	rs201556985	0.00019
NM_000352.6(ABCC8):c.1644G>T (p.Thr548=)	rs565996783	0.00019
NM_000466.3(PEX1):c.1268A>G (p.Asn423Ser)	rs200857848	0.00019
NM_000527.5(LDLR):c.1009G>A (p.Glu337Lys)	rs539080792	0.00019
NM_000543.5(SMPD1):c.1599G>A (p.Pro533=)	rs552841217	0.00019
NM_000709.4(BCKDHA):c.843C>T (p.Gly281=)	rs371343548	0.00019
NM_000784.4(CYP27A1):c.789C>T (p.Pro263=)	rs143600636	0.00019
NM_001079802.2(FKTN):c.41C>T (p.Thr14Met)	rs149033995	0.00019
NM_001126108.2(SLC12A3):c.1967C>T (p.Pro656Leu)	rs140363569	0.00019
NM_001126108.2(SLC12A3):c.81C>G (p.Ser27Arg)	rs201850644	0.00019
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln)	rs115407852	0.00019
NM_001164508.2(NEB):c.18410C>T (p.Thr6137Met)	rs201462794	0.00019
NM_001164508.2(NEB):c.19675G>A (p.Val6559Ile)	rs189232206	0.00019
NM_001164508.2(NEB):c.20896C>T (p.Arg6966Cys)	rs115623365	0.00019
NM_001164508.2(NEB):c.2771A>C (p.Tyr924Ser)	rs199903114	0.00019
NM_001164508.2(NEB):c.9067G>A (p.Val3023Met)	rs377375638	0.00019
NM_001243279.3(ACSF3):c.1127-5T>C	rs200245960	0.00019
NM_001243279.3(ACSF3):c.1562C>G (p.Thr521Ser)	rs201022212	0.00019
NM_001360.3(DHCR7):c.729C>T (p.Pro243=)	rs145284180	0.00019
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs)	rs397515540	0.00019
NM_001369.3(DNAH5):c.330A>T (p.Lys110Asn)	rs138832246	0.00019
NM_001369.3(DNAH5):c.6230T>C (p.Phe2077Ser)	rs141196027	0.00019
NM_001369.3(DNAH5):c.6385G>C (p.Val2129Leu)	rs150095347	0.00019
NM_001378454.1(ALMS1):c.4049A>G (p.His1350Arg)	rs373366352	0.00019
NM_001378454.1(ALMS1):c.759T>A (p.Pro253=)	rs201478438	0.00019
NM_001692.4(ATP6V1B1):c.1332C>T (p.Leu444=)	rs372223196	0.00019
NM_002435.3(MPI):c.656G>A (p.Arg219Gln)	rs104894489	0.00019
NM_002485.5(NBN):c.37+6G>A	rs540868733	0.00019
NM_002529.4(NTRK1):c.504C>T (p.Gly168=)	rs144594313	0.00019
NM_003640.5(ELP1):c.1878C>T (p.Asp626=)	rs141596257	0.00019
NM_003742.4(ABCB11):c.2036C>T (p.Ala679Val)	rs200912109	0.00019
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)	rs80338948	0.00019
NM_004035.7(ACOX1):c.574C>A (p.Gln192Lys)	rs200833797	0.00019
NM_004937.3(CTNS):c.123C>T (p.Asn41=)	rs148084080	0.00019
NM_005957.5(MTHFR):c.870C>T (p.Asn290=)	rs141769179	0.00019
NM_006019.4(TCIRG1):c.1213G>A (p.Gly405Arg)	rs137853150	0.00019
NM_006261.5(PROP1):c.96G>A (p.Pro32=)	rs144314831	0.00019
NM_014363.6(SACS):c.3752T>C (p.Ile1251Thr)	rs76872266	0.00019
NM_014363.6(SACS):c.7647T>G (p.Leu2549=)	rs186301471	0.00019
NM_014844.5(TECPR2):c.2280C>T (p.His760=)	rs61744796	0.00019
NM_014844.5(TECPR2):c.3108G>A (p.Gln1036=)	rs140351132	0.00019
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu)	rs201312386	0.00019
NM_020533.3(MCOLN1):c.1077C>T (p.Val359=)	rs200417975	0.00019
NM_020533.3(MCOLN1):c.60C>T (p.Pro20=)	rs202247664	0.00019
NM_133259.4(LRPPRC):c.1929C>T (p.His643=)	rs200017171	0.00019
NM_138694.4(PKHD1):c.2726G>A (p.Arg909Gln)	rs201753421	0.00019
NM_152419.3(HGSNAT):c.1272C>T (p.Gly424=)	rs147251143	0.00019
NM_152564.5(VPS13B):c.1639A>G (p.Thr547Ala)	rs142971568	0.00019
NM_152564.5(VPS13B):c.2471C>T (p.Ser824Phe)	rs145419141	0.00019
NM_153006.3(NAGS):c.722T>C (p.Val241Ala)	rs201142696	0.00019
NM_206933.4(USH2A):c.5844T>C (p.Arg1948=)	rs147930567	0.00019
NM_000023.4(SGCA):c.80C>T (p.Thr27Met)	rs565069721	0.00018
NM_000051.4(ATM):c.4768C>T (p.Leu1590Phe)	rs35962982	0.00018
NM_000053.4(ATP7B):c.3422C>G (p.Pro1141Arg)	rs757549770	0.00018
NM_000057.4(BLM):c.807C>T (p.Ser269=)	rs147850738	0.00018
NM_000070.3(CAPN3):c.2393C>A (p.Ala798Glu)	rs149095128	0.00018
NM_000094.4(COL7A1):c.1495G>A (p.Val499Met)	rs201877942	0.00018
NM_000135.4(FANCA):c.157A>C (p.Ser53Arg)	rs61757383	0.00018
NM_000152.5(GAA):c.1232G>A (p.Arg411Gln)	rs372799904	0.00018
NM_000153.4(GALC):c.1272G>A (p.Gln424=)	rs376675180	0.00018
NM_000154.2(GALK1):c.987G>A (p.Val329=)	rs184160171	0.00018
NM_000159.4(GCDH):c.1213A>G (p.Met405Val)	rs141437721	0.00018
NM_000159.4(GCDH):c.572T>C (p.Met191Thr)	rs149120354	0.00018
NM_000159.4(GCDH):c.801C>T (p.Asp267=)	rs141293881	0.00018
NM_000203.5(IDUA):c.76G>A (p.Ala26Thr)	rs746809894	0.00018
NM_000274.4(OAT):c.107G>C (p.Gly36Ala)	rs140786333	0.00018
NM_000274.4(OAT):c.736C>T (p.Leu246=)	rs146882296	0.00018
NM_000397.4(CYBB):c.855G>A (p.Leu285=)	rs782293433	0.00018
NM_000441.2(SLC26A4):c.919-2A>G	rs111033313	0.00018
NM_000492.4(CFTR):c.3468G>T (p.Leu1156Phe)	rs139729994	0.00018
NM_000642.3(AGL):c.1537A>T (p.Thr513Ser)	rs143987049	0.00018
NM_000642.3(AGL):c.3884G>A (p.Arg1295His)	rs140481863	0.00018
NM_001126108.2(SLC12A3):c.2549T>C (p.Leu850Pro)	rs121909379	0.00018
NM_001164508.2(NEB):c.19550G>A (p.Arg6517His)	rs149596493	0.00018
NM_001164508.2(NEB):c.23377A>C (p.Met7793Leu)	rs199957886	0.00018
NM_001164508.2(NEB):c.24520G>A (p.Ala8174Thr)	rs199937246	0.00018
NM_001164508.2(NEB):c.4046T>C (p.Leu1349Pro)	rs183667452	0.00018
NM_001243279.3(ACSF3):c.129C>T (p.Ser43=)	rs147915828	0.00018
NM_001352514.2(HLCS):c.2615G>A (p.Arg872Gln)	rs147474255	0.00018
NM_001369.3(DNAH5):c.11974G>C (p.Asp3992His)	rs143251480	0.00018
NM_001369.3(DNAH5):c.1967C>T (p.Ala656Val)	rs147911274	0.00018
NM_001369.3(DNAH5):c.3760C>T (p.Arg1254Trp)	rs749162833	0.00018
NM_003060.4(SLC22A5):c.1377A>G (p.Arg459=)	rs142264458	0.00018
NM_003060.4(SLC22A5):c.695C>T (p.Thr232Met)	rs114269482	0.00018
NM_004006.3(DMD):c.94-3C>T	rs373907950	0.00018
NM_005373.3(MPL):c.79+2T>A	rs146249964	0.00018
NM_014244.5(ADAMTS2):c.2817C>T (p.Ser939=)	rs201215425	0.00018
NM_014244.5(ADAMTS2):c.790G>A (p.Asp264Asn)	rs374717566	0.00018
NM_017777.4(MKS1):c.491G>A (p.Arg164His)	rs200149256	0.00018
NM_024312.5(GNPTAB):c.1750C>A (p.Pro584Thr)	rs201829728	0.00018
NM_138694.4(PKHD1):c.9662C>T (p.Pro3221Leu)	rs145141656	0.00018
NM_152564.5(VPS13B):c.4225-6G>A	rs199755508	0.00018
NM_152564.5(VPS13B):c.9369C>T (p.Cys3123=)	rs745668942	0.00018
NM_000023.4(SGCA):c.37+10G>T	rs200626376	0.00017
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys)	rs138398778	0.00017
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn)	rs199821556	0.00017
NM_000053.4(ATP7B):c.740A>G (p.Glu247Gly)	rs376398239	0.00017
NM_000094.4(COL7A1):c.3107G>A (p.Arg1036Gln)	rs150873722	0.00017
NM_000103.4(CYP19A1):c.721T>A (p.Tyr241Asn)	rs143562020	0.00017
NM_000135.4(FANCA):c.1413C>T (p.Val471=)	rs201561753	0.00017
NM_000135.4(FANCA):c.3848A>G (p.Lys1283Arg)	rs146975341	0.00017
NM_000135.4(FANCA):c.874C>G (p.His292Asp)	rs200220791	0.00017
NM_000152.5(GAA):c.131G>T (p.Gly44Val)	rs550609502	0.00017
NM_000156.6(GAMT):c.327G>A (p.Lys109=)	rs80338735	0.00017
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp)	rs121434369	0.00017
NM_000170.3(GLDC):c.2307C>T (p.Pro769=)	rs565834029	0.00017
NM_000203.5(IDUA):c.630C>T (p.Arg210=)	rs376012666	0.00017
NM_000243.3(MEFV):c.1038C>G (p.Gly346=)	rs141090517	0.00017
NM_000243.3(MEFV):c.1245C>T (p.Val415=)	rs104895195	0.00017
NM_000271.5(NPC1):c.233G>A (p.Arg78Gln)	rs373274825	0.00017
NM_000282.4(PCCA):c.328G>C (p.Val110Leu)	rs150788587	0.00017
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln)	rs141498002	0.00017
NM_000383.4(AIRE):c.538+7G>A	rs575144370	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_000441.2(SLC26A4):c.919-18T>G	rs767147359	0.00017
NM_000478.6(ALPL):c.413G>A (p.Arg138Gln)	rs140167865	0.00017
NM_000558.5(HBA1):c.96-1G>A	rs34883113	0.00017
NM_000642.3(AGL):c.4575T>A (p.Ile1525=)	rs372116308	0.00017
NM_001033855.3(DCLRE1C):c.1545A>G (p.Gly515=)	rs41300672	0.00017
NM_001079866.2(BCS1L):c.822G>A (p.Pro274=)	rs112329020	0.00017
NM_001164508.2(NEB):c.18800T>C (p.Leu6267Pro)	rs184723737	0.00017
NM_001164508.2(NEB):c.24096T>G (p.Asn8032Lys)	rs770023115	0.00017
NM_001164508.2(NEB):c.24757A>G (p.Ile8253Val)	rs551649582	0.00017
NM_001164508.2(NEB):c.25359A>C (p.Gln8453His)	rs377748897	0.00017
NM_001164508.2(NEB):c.367C>T (p.Arg123Cys)	rs200555425	0.00017
NM_001164508.2(NEB):c.4149C>T (p.Thr1383=)	rs148794372	0.00017
NM_001378454.1(ALMS1):c.9389C>G (p.Pro3130Arg)	rs200586877	0.00017
NM_001384474.1(LOXHD1):c.1730T>G (p.Leu577Arg)	rs727503147	0.00017
NM_002529.4(NTRK1):c.631G>A (p.Val211Met)	rs201192875	0.00017
NM_004004.6(GJB2):c.-23+1G>A	rs80338940	0.00017
NM_005373.3(MPL):c.1063A>G (p.Lys355Glu)	rs546510242	0.00017
NM_005609.4(PYGM):c.2382C>T (p.Asn794=)	rs540487525	0.00017
NM_014244.5(ADAMTS2):c.3342C>T (p.Asn1114=)	rs79606317	0.00017
NM_014252.4(SLC25A15):c.147C>G (p.Asp49Glu)	rs187685447	0.00017
NM_014363.6(SACS):c.11928T>C (p.Ser3976=)	rs145680118	0.00017
NM_015506.3(MMACHC):c.617G>A (p.Arg206Gln)	rs371753672	0.00017
NM_138694.4(PKHD1):c.2781A>G (p.Gln927=)	rs200511208	0.00017
NM_138694.4(PKHD1):c.7533A>G (p.Ser2511=)	rs200679577	0.00017
NM_152564.5(VPS13B):c.1528C>T (p.Arg510Cys)	rs139141291	0.00017
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)	rs104893851	0.00017
NM_205861.3(DHDDS):c.564T>C (p.Leu188=)	rs371976956	0.00017
NM_206933.4(USH2A):c.6510T>G (p.Ser2170Arg)	rs373604102	0.00017
NM_000016.6(ACADM):c.797A>G (p.Asp266Gly)	rs201375579	0.00016
NM_000033.4(ABCD1):c.1902C>T (p.Ala634=)	rs141110958	0.00016
NM_000053.4(ATP7B):c.445G>A (p.Val149Met)	rs200606656	0.00016
NM_000080.4(CHRNE):c.797C>T (p.Ala266Val)	rs201463598	0.00016
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg)	rs200287952	0.00016
NM_000094.4(COL7A1):c.4684G>A (p.Ala1562Thr)	rs143352280	0.00016
NM_000094.4(COL7A1):c.7793C>T (p.Pro2598Leu)	rs200138839	0.00016
NM_000128.4(F11):c.1431C>T (p.Ser477=)	rs149568223	0.00016
NM_000135.4(FANCA):c.116G>A (p.Arg39Lys)	rs151089298	0.00016
NM_000135.4(FANCA):c.2504+6C>G	rs749556479	0.00016
NM_000135.4(FANCA):c.3348+7G>T	rs185527578	0.00016
NM_000135.4(FANCA):c.688G>A (p.Val230Ile)	rs144560850	0.00016
NM_000137.4(FAH):c.150T>C (p.Phe50=)	rs186471906	0.00016
NM_000137.4(FAH):c.741C>T (p.Leu247=)	rs145851627	0.00016
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln)	rs149968110	0.00016
NM_000157.4(GBA1):c.882T>G (p.His294Gln)	rs367968666	0.00016
NM_000159.4(GCDH):c.627C>T (p.Thr209=)	rs143172809	0.00016
NM_000170.3(GLDC):c.2024A>C (p.Asn675Thr)	rs749513146	0.00016
NM_000203.5(IDUA):c.365G>A (p.Arg122Lys)	rs200237798	0.00016
NM_000203.5(IDUA):c.663C>G (p.Pro221=)	rs368553582	0.00016
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys)	rs104894423	0.00016
NM_000260.4(MYO7A):c.5688G>A (p.Gln1896=)	rs570316231	0.00016
NM_000263.4(NAGLU):c.1662C>T (p.Pro554=)	rs368521316	0.00016
NM_000352.6(ABCC8):c.3399+12C>T	rs372561049	0.00016
NM_000352.6(ABCC8):c.4412-14C>T	rs193922404	0.00016
NM_000441.2(SLC26A4):c.225C>G (p.Leu75=)	rs187447337	0.00016
NM_000466.3(PEX1):c.2558T>C (p.Met853Thr)	rs143283146	0.00016
NM_000466.3(PEX1):c.627G>A (p.Met209Ile)	rs200752969	0.00016
NM_000492.4(CFTR):c.489+3A>G	rs377729736	0.00016
NM_000520.6(HEXA):c.582G>A (p.Ala194=)	rs112614306	0.00016
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser)	rs72658865	0.00016
NM_000527.5(LDLR):c.564C>T (p.Tyr188=)	rs121908034	0.00016
NM_000528.4(MAN2B1):c.1209C>A (p.Arg403=)	rs559827776	0.00016
NM_000528.4(MAN2B1):c.2973G>A (p.Thr991=)	rs148945108	0.00016
NM_000642.3(AGL):c.1895T>C (p.Ile632Thr)	rs138823746	0.00016
NM_000784.4(CYP27A1):c.504A>T (p.Pro168=)	rs142623022	0.00016
NM_001033855.3(DCLRE1C):c.169G>T (p.Val57Phe)	rs138077101	0.00016
NM_001142800.2(EYS):c.6732A>G (p.Thr2244=)	rs899618893	0.00016
NM_001164508.2(NEB):c.19745C>T (p.Ala6582Val)	rs375646776	0.00016
NM_001164508.2(NEB):c.21270G>T (p.Pro7090=)	rs368887173	0.00016
NM_001164508.2(NEB):c.24041T>C (p.Val8014Ala)	rs200269437	0.00016
NM_001164508.2(NEB):c.24841C>T (p.Arg8281Trp)	rs200165006	0.00016
NM_001164508.2(NEB):c.3879+8G>A	rs376511134	0.00016
NM_001164508.2(NEB):c.3964G>T (p.Ala1322Ser)	rs376611641	0.00016
NM_001164508.2(NEB):c.6807+10T>C	rs375723456	0.00016
NM_001164508.2(NEB):c.7309C>T (p.Arg2437Trp)	rs375164626	0.00016
NM_001164508.2(NEB):c.7342C>T (p.Arg2448Cys)	rs576076237	0.00016
NM_001164508.2(NEB):c.8071C>T (p.Arg2691Cys)	rs202044707	0.00016
NM_001164508.2(NEB):c.8490G>A (p.Arg2830=)	rs368217121	0.00016
NM_001369.3(DNAH5):c.10789G>T (p.Ala3597Ser)	rs368959723	0.00016
NM_001369.3(DNAH5):c.574G>A (p.Ala192Thr)	rs140700961	0.00016
NM_001692.4(ATP6V1B1):c.926A>G (p.Glu309Gly)	rs201556073	0.00016
NM_002435.3(MPI):c.1125G>A (p.Gly375=)	rs552854858	0.00016
NM_002485.5(NBN):c.1343A>T (p.Gln448Leu)	rs146403088	0.00016
NM_003060.4(SLC22A5):c.904A>G (p.Lys302Glu)	rs75783492	0.00016
NM_004004.6(GJB2):c.355G>A (p.Glu119Lys)	rs150529554	0.00016
NM_005609.4(PYGM):c.2290A>G (p.Asn764Asp)	rs190548494	0.00016
NM_006118.4(HAX1):c.593C>T (p.Pro198Leu)	rs146152769	0.00016
NM_006623.4(PHGDH):c.1257G>A (p.Gly419=)	rs374303746	0.00016
NM_014244.5(ADAMTS2):c.3449A>G (p.Asn1150Ser)	rs200982805	0.00016
NM_014244.5(ADAMTS2):c.798C>T (p.Tyr266=)	rs139249329	0.00016
NM_014363.6(SACS):c.4302A>G (p.Leu1434=)	rs34559250	0.00016
NM_014363.6(SACS):c.99T>C (p.Asp33=)	rs775206528	0.00016
NM_018941.4(CLN8):c.806A>T (p.Glu269Val)	rs139003032	0.00016
NM_138694.4(PKHD1):c.3048T>C (p.Asn1016=)	rs138989655	0.00016
NM_138694.4(PKHD1):c.4447G>A (p.Glu1483Lys)	rs146745096	0.00016
NM_138694.4(PKHD1):c.633G>A (p.Gly211=)	rs144025892	0.00016
NM_152564.5(VPS13B):c.11656G>A (p.Val3886Ile)	rs141793014	0.00016
NM_152564.5(VPS13B):c.3083-9C>T	rs376659281	0.00016
NM_152564.5(VPS13B):c.358A>G (p.Ile120Val)	rs201147123	0.00016
NM_152564.5(VPS13B):c.4551C>G (p.Arg1517=)	rs150376603	0.00016
NM_152564.5(VPS13B):c.5607G>A (p.Thr1869=)	rs368851580	0.00016
NM_152564.5(VPS13B):c.6530G>A (p.Arg2177His)	rs147099791	0.00016
NM_182760.4(SUMF1):c.606G>A (p.Pro202=)	rs141957829	0.00016
NM_201525.4(ADGRG1):c.1287-6G>A	rs112805221	0.00016
NM_206933.4(USH2A):c.12399G>A (p.Glu4133=)	rs150406015	0.00016
NR_003051.4(RMRP):n.240C>T	rs749667892	0.00016
NM_000022.4(ADA):c.192G>A (p.Lys64=)	rs144168646	0.00015
NM_000051.4(ATM):c.2887A>G (p.Met963Val)	rs374353016	0.00015
NM_000051.4(ATM):c.3077+4G>A	rs201222237	0.00015
NM_000057.4(BLM):c.274A>G (p.Asn92Asp)	rs200690226	0.00015
NM_000070.3(CAPN3):c.2269C>T (p.His757Tyr)	rs148246325	0.00015
NM_000092.5(COL4A4):c.1893A>G (p.Gly631=)	rs370886041	0.00015
NM_000092.5(COL4A4):c.2430C>G (p.Gly810=)	rs769363556	0.00015
NM_000094.4(COL7A1):c.3724-6C>T	rs370390884	0.00015
NM_000094.4(COL7A1):c.59G>C (p.Arg20Pro)	rs755340663	0.00015
NM_000128.4(F11):c.596-6G>A	rs369721182	0.00015
NM_000153.4(GALC):c.1629C>T (p.Ala543=)	rs201055535	0.00015
NM_000159.4(GCDH):c.735C>T (p.Leu245=)	rs372678445	0.00015
NM_000169.3(GLA):c.-44C>T	rs781906252	0.00015
NM_000170.3(GLDC):c.1926+6T>C	rs200007891	0.00015
NM_000203.5(IDUA):c.405C>T (p.Ser135=)	rs201326626	0.00015
NM_000271.5(NPC1):c.2501T>C (p.Met834Thr)	rs373435883	0.00015
NM_000277.3(PAH):c.782G>A (p.Arg261Gln)	rs5030849	0.00015
NM_000360.4(TH):c.585G>A (p.Ser195=)	rs376615793	0.00015
NM_000396.4(CTSK):c.169A>G (p.Ile57Val)	rs201446793	0.00015
NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly)	rs111033244	0.00015
NM_000466.3(PEX1):c.2200G>A (p.Val734Ile)	rs141510219	0.00015
NM_000478.6(ALPL):c.436G>A (p.Glu146Lys)	rs138587317	0.00015
NM_000481.4(AMT):c.363C>T (p.Asn121=)	rs367604855	0.00015
NM_000492.4(CFTR):c.360G>A (p.Ala120=)	rs1800077	0.00015
NM_000521.4(HEXB):c.1670A>G (p.Ter557=)	rs576145664	0.00015
NM_000528.4(MAN2B1):c.2966A>G (p.Asn989Ser)	rs753397171	0.00015
NM_000784.4(CYP27A1):c.1184+9G>T	rs200457116	0.00015
NM_001126108.2(SLC12A3):c.2368+8C>A	rs140236327	0.00015
NM_001142800.2(EYS):c.453T>A (p.Val151=)	rs373183802	0.00015
NM_001142800.2(EYS):c.5025T>C (p.Ser1675=)	rs995130689	0.00015
NM_001164508.2(NEB):c.10583G>A (p.Arg3528His)	rs199584268	0.00015
NM_001164508.2(NEB):c.20440C>T (p.Arg6814Cys)	rs765806782	0.00015
NM_001164508.2(NEB):c.20941G>A (p.Val6981Met)	rs374961597	0.00015
NM_001164508.2(NEB):c.21173C>T (p.Thr7058Ile)	rs200523155	0.00015
NM_001164508.2(NEB):c.3444G>A (p.Ala1148=)	rs375569766	0.00015
NM_001243279.3(ACSF3):c.285G>A (p.Glu95=)	rs187962814	0.00015
NM_001283009.2(RTEL1):c.2987C>A (p.Pro996His)	rs373210484	0.00015
NM_001352514.2(HLCS):c.1843G>C (p.Val615Leu)	rs376210604	0.00015
NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys)	rs80338856	0.00015
NM_001378454.1(ALMS1):c.11953A>G (p.Ile3985Val)	rs201728850	0.00015
NM_001384474.1(LOXHD1):c.3951C>A (p.Val1317=)	rs779507390	0.00015
NM_002225.5(IVD):c.1122C>T (p.Asp374=)	rs372504234	0.00015
NM_002485.5(NBN):c.1036G>A (p.Val346Met)	rs200297914	0.00015
NM_003227.4(TFR2):c.1504G>A (p.Val502Ile)	rs150618729	0.00015
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)	rs111033294	0.00015
NM_004453.4(ETFDH):c.1048C>T (p.Arg350Trp)	rs375172942	0.00015
NM_004646.4(NPHS1):c.1104G>A (p.Pro368=)	rs143178785	0.00015
NM_005609.4(PYGM):c.1215C>T (p.Tyr405=)	rs371264447	0.00015
NM_005609.4(PYGM):c.951C>T (p.Phe317=)	rs71581789	0.00015
NM_005957.5(MTHFR):c.1720G>A (p.Val574Ile)	rs202153689	0.00015
NM_014049.5(ACAD9):c.1552C>T (p.Arg518Cys)	rs150283105	0.00015
NM_014140.4(SMARCAL1):c.2114C>T (p.Thr705Ile)	rs200644381	0.00015
NM_014244.5(ADAMTS2):c.167G>A (p.Arg56His)	rs201167346	0.00015
NM_014252.4(SLC25A15):c.278G>A (p.Arg93Gln)	rs369201060	0.00015
NM_014363.6(SACS):c.12829C>T (p.Pro4277Ser)	rs370655945	0.00015
NM_020320.5(RARS2):c.472_474del (p.Lys158del)	rs757743894	0.00015
NM_020533.3(MCOLN1):c.216G>A (p.Lys72=)	rs369176493	0.00015
NM_022132.5(MCCC2):c.1423G>A (p.Gly475Arg)	rs148773718	0.00015
NM_023036.6(DNAI2):c.1146G>A (p.Thr382=)	rs142571722	0.00015
NM_024649.5(BBS1):c.1634A>G (p.Asn545Ser)	rs148948642	0.00015
NM_025216.3(WNT10A):c.1017C>T (p.Phe339=)	rs531326479	0.00015
NM_031885.5(BBS2):c.266A>G (p.Tyr89Cys)	rs560910758	0.00015
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp)	rs28941784	0.00015
NM_138694.4(PKHD1):c.10888C>T (p.His3630Tyr)	rs145219220	0.00015
NM_138694.4(PKHD1):c.812T>A (p.Leu271His)	rs750887164	0.00015
NM_153717.3(EVC):c.105C>A (p.Gly35=)	rs745558003	0.00015
NR_003051.4(RMRP):n.181dup	rs940080676	0.00015
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln)	rs398123084	0.00014
NM_000019.4(ACAT1):c.858G>A (p.Leu286=)	rs143892373	0.00014
NM_000027.4(AGA):c.941-5C>T	rs377622082	0.00014
NM_000033.4(ABCD1):c.420C>A (p.Ile140=)	rs74315279	0.00014
NM_000033.4(ABCD1):c.901-5C>T	rs782603062	0.00014
NM_000048.4(ASL):c.857A>G (p.Gln286Arg)	rs28941472	0.00014
NM_000053.4(ATP7B):c.670A>T (p.Ile224Phe)	rs200563529	0.00014
NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln)	rs147764579	0.00014
NM_000091.5(COL4A3):c.3751+7G>A	rs750554079	0.00014
NM_000094.4(COL7A1):c.2392G>A (p.Gly798Arg)	rs202237834	0.00014
NM_000094.4(COL7A1):c.7217C>T (p.Pro2406Leu)	rs144788938	0.00014
NM_000098.3(CPT2):c.1914A>G (p.Gln638=)	rs903915351	0.00014
NM_000098.3(CPT2):c.406G>T (p.Ala136Ser)	rs554813467	0.00014
NM_000135.4(FANCA):c.200C>A (p.Pro67Gln)	rs200698961	0.00014
NM_000135.4(FANCA):c.2949T>G (p.Ile983Met)	rs188695241	0.00014
NM_000152.5(GAA):c.1593C>T (p.Asp531=)	rs138732016	0.00014
NM_000156.6(GAMT):c.182G>A (p.Gly61Glu)	rs77168423	0.00014
NM_000156.6(GAMT):c.22C>A (p.Pro8Thr)	rs776498025	0.00014
NM_000159.4(GCDH):c.1198G>A (p.Val400Met)	rs121434372	0.00014
NM_000166.6(GJB1):c.688C>T (p.Arg230Cys)	rs587781246	0.00014
NM_000169.3(GLA):c.1153A>G (p.Thr385Ala)	rs397515869	0.00014
NM_000170.3(GLDC):c.1974C>A (p.Ala658=)	rs534062853	0.00014
NM_000243.3(MEFV):c.331G>A (p.Gly111Arg)	rs112739451	0.00014
NM_000271.5(NPC1):c.1431G>A (p.Thr477=)	rs375307057	0.00014
NM_000271.5(NPC1):c.2201G>T (p.Ser734Ile)	rs757475924	0.00014
NM_000303.3(PMM2):c.109C>T (p.Gln37Ter)	rs764353860	0.00014
NM_000303.3(PMM2):c.442G>A (p.Asp148Asn)	rs148032587	0.00014
NM_000303.3(PMM2):c.634A>G (p.Met212Val)	rs3743808	0.00014
NM_000383.4(AIRE):c.600G>A (p.Pro200=)	rs754331960	0.00014
NM_000520.6(HEXA):c.548T>A (p.Leu183His)	rs185797496	0.00014
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser)	rs121907954	0.00014
NM_000528.4(MAN2B1):c.65G>A (p.Trp22Ter)	rs766383135	0.00014
NM_000642.3(AGL):c.1261A>G (p.Arg421Gly)	rs150637770	0.00014
NM_001017420.3(ESCO2):c.147C>G (p.Cys49Trp)	rs201989984	0.00014
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu)	rs140012781	0.00014
NM_001126108.2(SLC12A3):c.1968G>A (p.Pro656=)	rs150378634	0.00014
NM_001130987.2(DYSF):c.3175C>T (p.Arg1059Cys)	rs144598063	0.00014
NM_001164508.2(NEB):c.1187C>T (p.Ala396Val)	rs369957704	0.00014
NM_001164508.2(NEB):c.11900A>G (p.Asn3967Ser)	rs376194864	0.00014
NM_001164508.2(NEB):c.18064A>G (p.Ile6022Val)	rs574746662	0.00014
NM_001164508.2(NEB):c.19378G>A (p.Asp6460Asn)	rs562175196	0.00014
NM_001164508.2(NEB):c.22642A>G (p.Lys7548Glu)	rs201976154	0.00014
NM_001164508.2(NEB):c.355A>G (p.Thr119Ala)	rs182207224	0.00014
NM_001243279.3(ACSF3):c.120G>A (p.Ser40=)	rs34972688	0.00014
NM_001243279.3(ACSF3):c.1613+8T>G	rs1358602745	0.00014
NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg)	rs142808899	0.00014
NM_001369.3(DNAH5):c.13775G>A (p.Arg4592Gln)	rs367709427	0.00014
NM_001369.3(DNAH5):c.1648G>A (p.Glu550Lys)	rs145962029	0.00014
NM_001369.3(DNAH5):c.4596+5A>C	rs182677317	0.00014
NM_001369.3(DNAH5):c.6748G>A (p.Glu2250Lys)	rs201285946	0.00014
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr)	rs181396238	0.00014
NM_001875.5(CPS1):c.2236C>A (p.Pro746Thr)	rs139740322	0.00014
NM_002485.5(NBN):c.266G>C (p.Arg89Pro)	rs747315554	0.00014
NM_002485.5(NBN):c.456G>A (p.Met152Ile)	rs201816949	0.00014
NM_002529.4(NTRK1):c.584C>T (p.Thr195Met)	rs552776147	0.00014
NM_003227.4(TFR2):c.2367G>A (p.Ala789=)	rs374766778	0.00014
NM_003640.5(ELP1):c.208C>T (p.Arg70Cys)	rs3737311	0.00014
NM_004004.6(GJB2):c.511G>A (p.Ala171Thr)	rs201004645	0.00014
NM_004035.7(ACOX1):c.1695T>C (p.Tyr565=)	rs774049893	0.00014
NM_004453.4(ETFDH):c.1531G>A (p.Asp511Asn)	rs780768015	0.00014
NM_006096.4(NDRG1):c.1134G>A (p.Ser378=)	rs750369546	0.00014
NM_012203.2(GRHPR):c.336C>T (p.Ala112=)	rs148778319	0.00014
NM_014049.5(ACAD9):c.1331C>T (p.Ala444Val)	rs549861940	0.00014
NM_016955.4(SEPSECS):c.548-1G>A	rs200041461	0.00014
NM_017777.4(MKS1):c.417G>A (p.Glu139=)	rs386834048	0.00014
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile)	rs34647222	0.00014
NM_020533.3(MCOLN1):c.856C>A (p.His286Asn)	rs145191057	0.00014
NM_022132.5(MCCC2):c.114C>G (p.Gly38=)	rs750638270	0.00014
NM_023036.6(DNAI2):c.134A>G (p.Asn45Ser)	rs148073122	0.00014
NM_023036.6(DNAI2):c.1615G>A (p.Val539Ile)	rs199817659	0.00014
NM_024996.7(GFM1):c.622G>A (p.Glu208Lys)	rs191462023	0.00014
NM_033305.3(VPS13A):c.6039C>A (p.Thr2013=)	rs528628591	0.00014
NM_054012.4(ASS1):c.858A>T (p.Ala286=)	rs201905628	0.00014
NM_130849.4(SLC39A4):c.599C>T (p.Pro200Leu)	rs121434287	0.00014
NM_138694.4(PKHD1):c.12110T>C (p.Leu4037Pro)	rs199900211	0.00014
NM_138694.4(PKHD1):c.1848A>T (p.Ala616=)	rs776570716	0.00014
NM_138694.4(PKHD1):c.5093A>G (p.Asn1698Ser)	rs148108992	0.00014
NM_138694.4(PKHD1):c.7810C>T (p.Arg2604Cys)	rs201091083	0.00014
NM_138694.4(PKHD1):c.977-7C>G	rs1054774956	0.00014
NM_138694.4(PKHD1):c.9913A>G (p.Ile3305Val)	rs145745489	0.00014
NM_152564.5(VPS13B):c.10612G>A (p.Gly3538Arg)	rs150767461	0.00014
NM_152564.5(VPS13B):c.3083-8G>A	rs201973611	0.00014
NM_152564.5(VPS13B):c.4746-7T>C	rs201136777	0.00014
NM_201525.4(ADGRG1):c.1188C>T (p.Asp396=)	rs368883473	0.00014
NM_206933.4(USH2A):c.127G>A (p.Val43Met)	rs147421006	0.00014
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg)	rs121434274	0.00013
NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg)	rs200788251	0.00013
NM_000022.4(ADA):c.591T>A (p.His197Gln)	rs142456343	0.00013
NM_000022.4(ADA):c.864T>G (p.Ala288=)	rs146614184	0.00013
NM_000023.4(SGCA):c.292C>T (p.Arg98Cys)	rs138945081	0.00013
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys)	rs137852623	0.00013
NM_000035.4(ALDOB):c.911G>A (p.Arg304Gln)	rs145078268	0.00013
NM_000048.4(ASL):c.1056G>A (p.Thr352=)	rs745476328	0.00013
NM_000049.4(ASPA):c.212G>A (p.Arg71His)	rs104894553	0.00013
NM_000051.4(ATM):c.8156G>A (p.Arg2719His)	rs55982963	0.00013
NM_000051.4(ATM):c.8671+9T>G	rs200190537	0.00013
NM_000053.4(ATP7B):c.3006C>T (p.Ala1002=)	rs369620062	0.00013
NM_000053.4(ATP7B):c.3243+5G>A	rs373193482	0.00013
NM_000057.4(BLM):c.4113G>A (p.Thr1371=)	rs61754135	0.00013
NM_000070.3(CAPN3):c.1319G>A (p.Arg440Gln)	rs376107921	0.00013
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp)	rs141656719	0.00013
NM_000071.3(CBS):c.146C>T (p.Pro49Leu)	rs148865119	0.00013
NM_000080.4(CHRNE):c.6A>G (p.Ala2=)	rs202198207	0.00013
NM_000091.5(COL4A3):c.688-8G>T	rs748843785	0.00013
NM_000094.4(COL7A1):c.2277C>T (p.Gly759=)	rs144756110	0.00013
NM_000094.4(COL7A1):c.5798G>A (p.Arg1933Gln)	rs201722048	0.00013
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser)	rs104893924	0.00013
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln)	rs755922289	0.00013
NM_000135.4(FANCA):c.4015C>T (p.Leu1339Phe)	rs149775657	0.00013
NM_000136.3(FANCC):c.1494T>C (p.Ala498=)	rs76895298	0.00013
NM_000151.4(G6PC1):c.694G>A (p.Val232Ile)	rs145172999	0.00013
NM_000152.5(GAA):c.2381G>A (p.Arg794His)	rs200505871	0.00013
NM_000169.3(GLA):c.1088G>A (p.Arg363His)	rs111422676	0.00013
NM_000195.5(HPS1):c.1286G>A (p.Arg429His)	rs201728087	0.00013
NM_000198.4(HSD3B2):c.308-8G>A	rs371712928	0.00013
NM_000237.3(LPL):c.528C>G (p.Val176=)	rs199606532	0.00013
NM_000246.4(CIITA):c.1047T>C (p.Tyr349=)	rs144735718	0.00013
NM_000246.4(CIITA):c.1542G>A (p.Thr514=)	rs2228239	0.00013
NM_000246.4(CIITA):c.1791C>G (p.Leu597=)	rs201657235	0.00013
NM_000246.4(CIITA):c.1908G>A (p.Thr636=)	rs200398959	0.00013
NM_000246.4(CIITA):c.3003C>T (p.Asp1001=)	rs143497260	0.00013
NM_000274.4(OAT):c.478G>A (p.Val160Met)	rs148433929	0.00013
NM_000282.4(PCCA):c.36C>T (p.Val12=)	rs375516917	0.00013
NM_000282.4(PCCA):c.490A>G (p.Ile164Val)	rs539693612	0.00013
NM_000352.6(ABCC8):c.1818-6G>A	rs368708177	0.00013
NM_000352.6(ABCC8):c.3039G>A (p.Ser1013=)	rs17846762	0.00013
NM_000352.6(ABCC8):c.3984C>T (p.Leu1328=)	rs368419322	0.00013
NM_000360.4(TH):c.51C>T (p.Ala17=)	rs199645400	0.00013
NM_000383.4(AIRE):c.718G>A (p.Gly240Ser)	rs142286875	0.00013
NM_000489.6(ATRX):c.2650G>A (p.Glu884Lys)	rs200343648	0.00013
NM_000517.6(HBA2):c.369C>G (p.His123Gln)	rs41479347	0.00013
NM_000527.5(LDLR):c.1867A>G (p.Ile623Val)	rs555292896	0.00013
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met)	rs121908102	0.00013
NM_001039958.2(MESP2):c.306C>A (p.His102Gln)	rs77473319	0.00013
NM_001164508.2(NEB):c.1544A>G (p.Gln515Arg)	rs368150737	0.00013
NM_001164508.2(NEB):c.1550A>G (p.Asn517Ser)	rs199710125	0.00013
NM_001164508.2(NEB):c.17518G>A (p.Ala5840Thr)	rs376277385	0.00013
NM_001164508.2(NEB):c.18398A>G (p.Lys6133Arg)	rs199594449	0.00013
NM_001164508.2(NEB):c.18646T>C (p.Phe6216Leu)	rs202211102	0.00013
NM_001164508.2(NEB):c.19358C>T (p.Thr6453Met)	rs370810654	0.00013
NM_001164508.2(NEB):c.61G>A (p.Glu21Lys)	rs199907781	0.00013
NM_001164508.2(NEB):c.642C>A (p.Asp214Glu)	rs373133009	0.00013
NM_001173990.3(TMEM216):c.216T>C (p.Ile72=)	rs541666319	0.00013
NM_001173990.3(TMEM216):c.358A>G (p.Met120Val)	rs200289511	0.00013
NM_001243279.3(ACSF3):c.1398C>T (p.Tyr466=)	rs200146632	0.00013
NM_001369.3(DNAH5):c.2571G>A (p.Met857Ile)	rs199667661	0.00013
NM_001369.3(DNAH5):c.2891A>T (p.His964Leu)	rs199698421	0.00013
NM_001369.3(DNAH5):c.4361G>A (p.Arg1454Gln)	rs542708170	0.00013
NM_001369.3(DNAH5):c.5438A>G (p.Glu1813Gly)	rs199910966	0.00013
NM_001378454.1(ALMS1):c.9880G>C (p.Asp3294His)	rs200441305	0.00013
NM_001384474.1(LOXHD1):c.2863G>C (p.Glu955Gln)	rs548893604	0.00013
NM_001384474.1(LOXHD1):c.5584C>T (p.Arg1862Trp)	rs201994383	0.00013
NM_001875.5(CPS1):c.121G>T (p.Val41Phe)	rs148708735	0.00013
NM_001875.5(CPS1):c.3466A>T (p.Thr1156Ser)	rs201246466	0.00013
NM_002225.5(IVD):c.358G>A (p.Gly120Arg)	rs142761835	0.00013
NM_002485.5(NBN):c.1124+6G>T	rs375862750	0.00013
NM_002529.4(NTRK1):c.1661G>A (p.Arg554Gln)	rs764417252	0.00013
NM_003060.4(SLC22A5):c.1440C>T (p.Phe480=)	rs150457229	0.00013
NM_003982.4(SLC7A7):c.339A>C (p.Gly113=)	rs139270936	0.00013
NM_005609.4(PYGM):c.606C>T (p.His202=)	rs79860859	0.00013
NM_005957.5(MTHFR):c.903G>A (p.Leu301=)	rs147979890	0.00013
NM_012144.4(DNAI1):c.1195G>A (p.Val399Met)	rs150261456	0.00013
NM_012434.5(SLC17A5):c.1365A>G (p.Glu455=)	rs192599733	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_015506.3(MMACHC):c.799C>T (p.Arg267Trp)	rs34258482	0.00013
NM_015702.3(MMADHC):c.10-9C>G	rs376032730	0.00013
NM_020533.3(MCOLN1):c.339G>A (p.Ala113=)	rs180687633	0.00013
NM_020533.3(MCOLN1):c.707G>A (p.Arg236Gln)	rs528887619	0.00013
NM_023036.6(DNAI2):c.1202T>C (p.Met401Thr)	rs146769635	0.00013
NM_024312.5(GNPTAB):c.513A>G (p.Ala171=)	rs371813268	0.00013
NM_024685.4(BBS10):c.372T>A (p.Ser124=)	rs143366878	0.00013
NM_033305.3(VPS13A):c.2922C>T (p.Pro974=)	rs373768055	0.00013
NM_033305.3(VPS13A):c.5047A>G (p.Thr1683Ala)	rs371138709	0.00013
NM_054012.4(ASS1):c.1165A>G (p.Thr389Ala)	rs145288815	0.00013
NM_138694.4(PKHD1):c.1201C>A (p.His401Asn)	rs192769565	0.00013
NM_138694.4(PKHD1):c.9663G>A (p.Pro3221=)	rs371508721	0.00013
NM_152564.5(VPS13B):c.10258G>A (p.Val3420Met)	rs191174682	0.00013
NM_152564.5(VPS13B):c.1843+10T>C	rs371154826	0.00013
NM_152564.5(VPS13B):c.2470T>G (p.Ser824Ala)	rs149866274	0.00013
NM_152564.5(VPS13B):c.3017C>G (p.Ala1006Gly)	rs201566948	0.00013
NM_152564.5(VPS13B):c.934A>G (p.Thr312Ala)	rs780702951	0.00013
NM_205861.3(DHDDS):c.990T>C (p.Thr330=)	rs773902080	0.00013
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)	rs201527662	0.00013
NM_206933.4(USH2A):c.9688G>A (p.Ala3230Thr)	rs528342000	0.00013
NM_000019.4(ACAT1):c.772C>T (p.Arg258Cys)	rs753816946	0.00012
NM_000049.4(ASPA):c.78C>T (p.Thr26=)	rs145616193	0.00012
NM_000053.4(ATP7B):c.2475G>A (p.Val825=)	rs373528664	0.00012
NM_000053.4(ATP7B):c.347T>C (p.Ile116Thr)	rs199773340	0.00012
NM_000053.4(ATP7B):c.540C>T (p.Asn180=)	rs537892210	0.00012
NM_000057.4(BLM):c.3828G>A (p.Ala1276=)	rs369383272	0.00012
NM_000070.3(CAPN3):c.2106G>A (p.Ala702=)	rs144260889	0.00012
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter)	rs761341952	0.00012
NM_000137.4(FAH):c.715A>T (p.Ile239Phe)	rs144228661	0.00012
NM_000170.3(GLDC):c.499G>T (p.Glu167Ter)	rs191905539	0.00012
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)	rs61752717	0.00012
NM_000246.4(CIITA):c.772+8C>T	rs557455283	0.00012
NM_000260.4(MYO7A):c.3297C>T (p.Pro1099=)	rs367668576	0.00012
NM_000310.4(PPT1):c.329A>G (p.Asn110Ser)	rs142894102	0.00012
NM_000359.3(TGM1):c.885C>T (p.His295=)	rs186352813	0.00012
NM_000383.4(AIRE):c.354C>G (p.Val118=)	rs528667089	0.00012
NM_000383.4(AIRE):c.880-7G>A	rs141955483	0.00012
NM_000489.6(ATRX):c.7256A>G (p.Asn2419Ser)	rs781853125	0.00012
NM_000521.4(HEXB):c.1627G>A (p.Ala543Thr)	rs121907984	0.00012
NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser)	rs368838866	0.00012
NM_000532.5(PCCB):c.561C>T (p.Ser187=)	rs145057852	0.00012
NM_000642.3(AGL):c.256C>T (p.Gln86Ter)	rs193186112	0.00012
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn)	rs137852870	0.00012
NM_000784.4(CYP27A1):c.578G>A (p.Arg193Gln)	rs181649030	0.00012
NM_001122769.3(LCA5):c.1260G>A (p.Lys420=)	rs141642284	0.00012
NM_001142800.2(EYS):c.5104T>C (p.Leu1702=)	rs564151798	0.00012
NM_001164508.2(NEB):c.18809G>A (p.Arg6270Gln)	rs372804439	0.00012
NM_001164508.2(NEB):c.18860G>A (p.Arg6287His)	rs200195063	0.00012
NM_001164508.2(NEB):c.780A>G (p.Pro260=)	rs80255720	0.00012
NM_001164508.2(NEB):c.7896A>G (p.Thr2632=)	rs377015178	0.00012
NM_001164508.2(NEB):c.853A>G (p.Ile285Val)	rs773114380	0.00012
NM_001243279.3(ACSF3):c.672C>T (p.Thr224=)	rs150374081	0.00012
NM_001352514.2(HLCS):c.2345A>G (p.Tyr782Cys)	rs200453837	0.00012
NM_001369.3(DNAH5):c.2306C>T (p.Ala769Val)	rs200101760	0.00012
NM_001369.3(DNAH5):c.3733C>T (p.Arg1245Cys)	rs149609746	0.00012
NM_001369.3(DNAH5):c.7943C>T (p.Ala2648Val)	rs201939338	0.00012
NM_001369.3(DNAH5):c.8837G>A (p.Arg2946His)	rs140975593	0.00012
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser)	rs138818907	0.00012
NM_001378454.1(ALMS1):c.11611A>T (p.Asn3871Tyr)	rs368957150	0.00012
NM_001378454.1(ALMS1):c.4204A>G (p.Thr1402Ala)	rs199649563	0.00012
NM_001399.5(EDA):c.390G>T (p.Gly130=)	rs143746851	0.00012
NM_004629.2(FANCG):c.881G>A (p.Gly294Glu)	rs17880082	0.00012
NM_012144.4(DNAI1):c.1929C>A (p.Ile643=)	rs146434058	0.00012
NM_033159.4(HYAL1):c.1041C>T (p.Phe347=)	rs377105091	0.00012
NM_138694.4(PKHD1):c.3804C>T (p.Ala1268=)	rs201769990	0.00012
NM_138694.4(PKHD1):c.5829C>T (p.Gly1943=)	rs376709130	0.00012
NM_138694.4(PKHD1):c.5910G>A (p.Gly1970=)	rs200730851	0.00012
NM_152618.3(BBS12):c.1237C>G (p.Leu413Val)	rs758217005	0.00012
NM_000016.6(ACADM):c.468+62C>T	rs875989870	0.00011
NM_000018.4(ACADVL):c.1220G>C (p.Gly407Ala)	rs904631654	0.00011
NM_000030.3(AGXT):c.1111G>A (p.Glu371Lys)	rs369664123	0.00011
NM_000030.3(AGXT):c.885G>A (p.Ala295=)	rs377132245	0.00011
NM_000035.4(ALDOB):c.1011G>A (p.Gln337=)	rs566549564	0.00011
NM_000035.4(ALDOB):c.538C>A (p.Gln180Lys)	rs574635615	0.00011
NM_000048.4(ASL):c.1047C>G (p.Val349=)	rs187877947	0.00011
NM_000048.4(ASL):c.1278C>T (p.Cys426=)	rs140770112	0.00011
NM_000070.3(CAPN3):c.1437C>T (p.Ser479=)	rs147914333	0.00011
NM_000094.4(COL7A1):c.1910C>T (p.Pro637Leu)	rs199967174	0.00011
NM_000094.4(COL7A1):c.4069G>A (p.Gly1357Arg)	rs200741847	0.00011
NM_000094.4(COL7A1):c.4135C>T (p.Arg1379Cys)	rs200802373	0.00011
NM_000094.4(COL7A1):c.520+9C>T	rs368959634	0.00011
NM_000094.4(COL7A1):c.6500C>T (p.Pro2167Leu)	rs200473808	0.00011
NM_000094.4(COL7A1):c.8094C>T (p.Gly2698=)	rs199936185	0.00011
NM_000098.3(CPT2):c.45G>T (p.Ala15=)	rs761850684	0.00011
NM_000108.5(DLD):c.549G>A (p.Thr183=)	rs150630885	0.00011
NM_000135.4(FANCA):c.1049G>A (p.Arg350Gln)	rs199967286	0.00011
NM_000135.4(FANCA):c.2029G>A (p.Val677Met)	rs767396631	0.00011
NM_000135.4(FANCA):c.3099C>A (p.Asp1033Glu)	rs139289675	0.00011
NM_000135.4(FANCA):c.3157C>T (p.Arg1053Cys)	rs376103033	0.00011
NM_000135.4(FANCA):c.3637C>G (p.Pro1213Ala)	rs200713354	0.00011
NM_000154.2(GALK1):c.1044C>T (p.Phe348=)	rs372653001	0.00011
NM_000170.3(GLDC):c.2149A>G (p.Ile717Val)	rs117460214	0.00011
NM_000195.5(HPS1):c.1846G>A (p.Glu616Lys)	rs775570414	0.00011
NM_000198.4(HSD3B2):c.423C>T (p.His141=)	rs751470493	0.00011
NM_000206.3(IL2RG):c.1002G>A (p.Glu334=)	rs376679881	0.00011
NM_000243.3(MEFV):c.1171G>A (p.Asp391Asn)	rs764274816	0.00011
NM_000243.3(MEFV):c.1341G>C (p.Lys447Asn)	rs756322372	0.00011
NM_000243.3(MEFV):c.1522C>G (p.Leu508Val)	rs199937453	0.00011
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile)	rs104895081	0.00011
NM_000246.4(CIITA):c.2405G>A (p.Arg802Gln)	rs201182990	0.00011
NM_000252.3(MTM1):c.1701C>T (p.Tyr567=)	rs587783806	0.00011
NM_000252.3(MTM1):c.176T>C (p.Ile59Thr)	rs782217375	0.00011
NM_000255.4(MMUT):c.2026G>A (p.Ala676Thr)	rs147715336	0.00011
NM_000260.4(MYO7A):c.1358G>A (p.Cys453Tyr)	rs202080237	0.00011
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val)	rs372030650	0.00011
NM_000289.6(PFKM):c.1063-5C>T	rs758178966	0.00011
NM_000289.6(PFKM):c.2040C>T (p.Gly680=)	rs369893708	0.00011
NM_000352.6(ABCC8):c.102G>A (p.Val34=)	rs189746511	0.00011
NM_000352.6(ABCC8):c.3112G>A (p.Asp1038Asn)	rs367974472	0.00011
NM_000352.6(ABCC8):c.4116G>A (p.Gln1372=)	rs562715858	0.00011
NM_000360.4(TH):c.1383G>A (p.Pro461=)	rs552808212	0.00011
NM_000360.4(TH):c.91-828C>T	rs764689284	0.00011
NM_000370.3(TTPA):c.575G>A (p.Arg192His)	rs121917850	0.00011
NM_000383.4(AIRE):c.1394G>A (p.Arg465Gln)	rs139835427	0.00011
NM_000466.3(PEX1):c.1587+5T>C	rs199526105	0.00011
NM_000466.3(PEX1):c.1700T>G (p.Leu567Trp)	rs199989676	0.00011
NM_000466.3(PEX1):c.1815A>G (p.Lys605=)	rs112688556	0.00011
NM_000466.3(PEX1):c.891A>G (p.Ile297Met)	rs143206380	0.00011
NM_000478.6(ALPL):c.529G>A (p.Ala177Thr)	rs199669988	0.00011
NM_000481.4(AMT):c.961G>A (p.Val321Met)	rs149457059	0.00011
NM_000487.6(ARSA):c.869G>A (p.Arg290His)	rs199476355	0.00011
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln)	rs397508137	0.00011
NM_000498.3(CYP11B2):c.594A>C (p.Glu198Asp)	rs104894072	0.00011
NM_000520.6(HEXA):c.1305C>T (p.Tyr435=)	rs587779406	0.00011
NM_000527.5(LDLR):c.643C>T (p.Arg215Cys)	rs764042910	0.00011
NM_000531.6(OTC):c.140A>C (p.Asn47Thr)	rs67939655	0.00011
NM_000543.5(SMPD1):c.349G>A (p.Val117Met)	rs202206564	0.00011
NM_000543.5(SMPD1):c.909A>G (p.Ala303=)	rs201134693	0.00011
NM_000642.3(AGL):c.3231G>A (p.Lys1077=)	rs138063386	0.00011
NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter)	rs12118058	0.00011
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His)	rs587778778	0.00011
NM_001017420.3(ESCO2):c.325T>C (p.Cys109Arg)	rs199653554	0.00011
NM_001033855.3(DCLRE1C):c.1990C>T (p.Arg664Ter)	rs200693133	0.00011
NM_001079866.2(BCS1L):c.205C>T (p.Arg69Cys)	rs377025174	0.00011
NM_001079866.2(BCS1L):c.550C>T (p.Arg184Cys)	rs121908578	0.00011
NM_001164508.2(NEB):c.11025G>A (p.Thr3675=)	rs199789085	0.00011
NM_001164508.2(NEB):c.11133T>C (p.Asp3711=)	rs547109690	0.00011
NM_001164508.2(NEB):c.1211C>T (p.Thr404Ile)	rs200585609	0.00011
NM_001164508.2(NEB):c.12492A>C (p.Pro4164=)	rs1462106212	0.00011
NM_001164508.2(NEB):c.13661G>A (p.Ser4554Asn)	rs1057522021	0.00011
NM_001164508.2(NEB):c.16984G>A (p.Ala5662Thr)	rs375294508	0.00011
NM_001164508.2(NEB):c.17242C>T (p.Arg5748Trp)	rs546869744	0.00011
NM_001164508.2(NEB):c.18488C>T (p.Ala6163Val)	rs201529683	0.00011
NM_001164508.2(NEB):c.19865G>A (p.Ser6622Asn)	rs144168709	0.00011
NM_001164508.2(NEB):c.19966C>T (p.Arg6656Cys)	rs527250558	0.00011
NM_001164508.2(NEB):c.20212G>A (p.Asp6738Asn)	rs201337732	0.00011
NM_001164508.2(NEB):c.21056G>A (p.Arg7019His)	rs377443184	0.00011
NM_001164508.2(NEB):c.21406A>T (p.Met7136Leu)	rs886038447	0.00011
NM_001164508.2(NEB):c.22535C>T (p.Pro7512Leu)	rs376609115	0.00011
NM_001164508.2(NEB):c.23927C>T (p.Ser7976Leu)	rs202137113	0.00011
NM_001164508.2(NEB):c.25165C>T (p.Arg8389Trp)	rs373551215	0.00011
NM_001164508.2(NEB):c.2773A>G (p.Ser925Gly)	rs928041091	0.00011
NM_001164508.2(NEB):c.293C>T (p.Pro98Leu)	rs201473194	0.00011
NM_001164508.2(NEB):c.5554A>G (p.Met1852Val)	rs370172690	0.00011
NM_001164508.2(NEB):c.6481C>T (p.Arg2161Cys)	rs201758329	0.00011
NM_001283009.2(RTEL1):c.3407C>G (p.Thr1136Ser)	rs150686112	0.00011
NM_001352514.2(HLCS):c.2416G>A (p.Val806Ile)	rs368124997	0.00011
NM_001352514.2(HLCS):c.951C>T (p.Ser317=)	rs185480832	0.00011
NM_001360.3(DHCR7):c.485C>T (p.Ala162Val)	rs398123606	0.00011
NM_001360.3(DHCR7):c.765C>T (p.Phe255=)	rs200132007	0.00011
NM_001369.3(DNAH5):c.10084T>A (p.Phe3362Ile)	rs373406041	0.00011
NM_001369.3(DNAH5):c.10731C>G (p.Asn3577Lys)	rs376292253	0.00011
NM_001369.3(DNAH5):c.11376C>T (p.Ala3792=)	rs755149967	0.00011
NM_001369.3(DNAH5):c.11492C>G (p.Thr3831Ser)	rs111313832	0.00011
NM_001369.3(DNAH5):c.12189G>A (p.Gly4063=)	rs144879072	0.00011
NM_001369.3(DNAH5):c.360T>C (p.Asp120=)	rs368412855	0.00011
NM_001369.3(DNAH5):c.5692G>A (p.Asp1898Asn)	rs149834171	0.00011
NM_001369.3(DNAH5):c.7502G>C (p.Arg2501Pro)	rs78853309	0.00011
NM_001369.3(DNAH5):c.8512A>C (p.Ser2838Arg)	rs763198301	0.00011
NM_001369.3(DNAH5):c.9714C>T (p.Ala3238=)	rs375561333	0.00011
NM_001384474.1(LOXHD1):c.1759C>T (p.Arg587Trp)	rs540100675	0.00011
NM_002485.5(NBN):c.1914+10G>A	rs577706448	0.00011
NM_002485.5(NBN):c.37+10G>C	rs369408590	0.00011
NM_002529.4(NTRK1):c.1808C>G (p.Ser603Cys)	rs188270548	0.00011
NM_003227.4(TFR2):c.1863C>T (p.Ala621=)	rs374489702	0.00011
NM_003640.5(ELP1):c.1704A>G (p.Ser568=)	rs138192941	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_005957.5(MTHFR):c.726A>G (p.Ala242=)	rs45459991	0.00011
NM_006493.4(CLN5):c.1026A>G (p.Thr342=)	rs200637649	0.00011
NM_012144.4(DNAI1):c.1019+7A>G	rs200720794	0.00011
NM_014249.4(NR2E3):c.843C>T (p.Pro281=)	rs555211505	0.00011
NM_014252.4(SLC25A15):c.216C>T (p.Ile72=)	rs572717478	0.00011
NM_014252.4(SLC25A15):c.706A>G (p.Arg236Gly)	rs142236568	0.00011
NM_014363.6(SACS):c.5841C>T (p.Pro1947=)	rs145371235	0.00011
NM_014844.5(TECPR2):c.1477C>T (p.Pro493Ser)	rs150165045	0.00011
NM_014844.5(TECPR2):c.3790-8G>A	rs772801372	0.00011
NM_014844.5(TECPR2):c.4161G>A (p.Ser1387=)	rs150885756	0.00011
NM_014844.5(TECPR2):c.846C>T (p.Cys282=)	rs201691545	0.00011
NM_018006.5(TRMU):c.835G>A (p.Val279Met)	rs387907022	0.00011
NM_018006.5(TRMU):c.910C>G (p.Leu304Val)	rs200777988	0.00011
NM_018941.4(CLN8):c.725C>T (p.Thr242Met)	rs138821993	0.00011
NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe)	rs757052602	0.00011
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu)	rs143031195	0.00011
NM_024649.5(BBS1):c.981C>T (p.Pro327=)	rs142243482	0.00011
NM_025215.6(PUS1):c.1266G>A (p.Gly422=)	rs201441662	0.00011
NM_025215.6(PUS1):c.894C>T (p.Val298=)	rs201908893	0.00011
NM_033305.3(VPS13A):c.2964+5G>A	rs139516538	0.00011
NM_054012.4(ASS1):c.919C>T (p.Arg307Cys)	rs183276875	0.00011
NM_130849.4(SLC39A4):c.1149+9C>T	rs139192292	0.00011
NM_130849.4(SLC39A4):c.646G>A (p.Glu216Lys)	rs200524049	0.00011
NM_138694.4(PKHD1):c.8407T>C (p.Cys2803Arg)	rs398124495	0.00011
NM_152564.5(VPS13B):c.4324T>A (p.Ser1442Thr)	rs143566455	0.00011
NM_152564.5(VPS13B):c.5884G>T (p.Val1962Leu)	rs375399419	0.00011
NM_152564.5(VPS13B):c.7668C>T (p.Ser2556=)	rs370903187	0.00011
NM_206933.4(USH2A):c.10059G>A (p.Pro3353=)	rs147842359	0.00011
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu)	rs143344549	0.00011
NM_206933.4(USH2A):c.14516C>T (p.Thr4839Met)	rs139065588	0.00011
NM_206933.4(USH2A):c.1935A>T (p.Thr645=)	rs146670690	0.00011
NM_000016.6(ACADM):c.210T>G (p.Thr70=)	rs778891510	0.00010
NM_000023.4(SGCA):c.320C>T (p.Ala107Val)	rs186669379	0.00010
NM_000033.4(ABCD1):c.108G>A (p.Val36=)	rs368718078	0.00010
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val)	rs77718928	0.00010
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter)	rs118204429	0.00010
NM_000051.4(ATM):c.1703G>T (p.Arg568Ile)	rs200381392	0.00010
NM_000051.4(ATM):c.7988T>C (p.Val2663Ala)	rs377648506	0.00010
NM_000053.4(ATP7B):c.3275C>T (p.Thr1092Met)	rs368545738	0.00010
NM_000057.4(BLM):c.2638G>C (p.Glu880Gln)	rs201770808	0.00010
NM_000071.3(CBS):c.362G>A (p.Arg121His)	rs770095972	0.00010
NM_000071.3(CBS):c.700G>A (p.Asp234Asn)	rs773734233	0.00010
NM_000071.3(CBS):c.770C>T (p.Thr257Met)	rs758236584	0.00010
NM_000071.3(CBS):c.894G>A (p.Gln298=)	rs370514077	0.00010
NM_000080.4(CHRNE):c.710G>T (p.Arg237Leu)	rs201434993	0.00010
NM_000094.4(COL7A1):c.4118C>T (p.Ser1373Leu)	rs140403507	0.00010
NM_000094.4(COL7A1):c.4978C>T (p.Arg1660Trp)	rs147285396	0.00010
NM_000094.4(COL7A1):c.5459C>G (p.Pro1820Arg)	rs143037856	0.00010
NM_000094.4(COL7A1):c.8095G>A (p.Glu2699Lys)	rs200938473	0.00010
NM_000098.3(CPT2):c.1436A>T (p.Tyr479Phe)	rs749895856	0.00010
NM_000128.4(F11):c.1858G>C (p.Glu620Gln)	rs148054334	0.00010
NM_000133.4(F9):c.769G>A (p.Val257Ile)	rs200608775	0.00010
NM_000135.4(FANCA):c.1281G>C (p.Met427Ile)	rs747322973	0.00010
NM_000135.4(FANCA):c.1632C>A (p.His544Gln)	rs553129361	0.00010
NM_000135.4(FANCA):c.4225C>T (p.Arg1409Trp)	rs139478274	0.00010
NM_000136.3(FANCC):c.554G>A (p.Arg185Gln)	rs370346767	0.00010
NM_000137.4(FAH):c.648C>A (p.Ile216=)	rs147016995	0.00010
NM_000143.4(FH):c.33G>C (p.Ser11=)	rs200542051	0.00010
NM_000152.5(GAA):c.1920T>G (p.Pro640=)	rs144090460	0.00010
NM_000152.5(GAA):c.2319C>T (p.Tyr773=)	rs377402848	0.00010
NM_000153.4(GALC):c.195G>C (p.Gly65=)	rs886042057	0.00010
NM_000154.2(GALK1):c.766C>T (p.Arg256Trp)	rs376790302	0.00010
NM_000156.6(GAMT):c.298C>T (p.Arg100Trp)	rs552210450	0.00010
NM_000159.4(GCDH):c.510G>C (p.Lys170Asn)	rs200785120	0.00010
NM_000191.3(HMGCL):c.454G>A (p.Ala152Thr)	rs146306707	0.00010
NM_000243.3(MEFV):c.2282G>A (p.Arg761His)	rs104895097	0.00010
NM_000246.4(CIITA):c.1545C>T (p.Cys515=)	rs200146904	0.00010
NM_000277.3(PAH):c.842C>T (p.Pro281Leu)	rs5030851	0.00010
NM_000284.4(PDHA1):c.1114G>A (p.Asp372Asn)	rs199879809	0.00010
NM_000284.4(PDHA1):c.759+10C>G	rs375488072	0.00010
NM_000303.3(PMM2):c.140C>T (p.Ser47Leu)	rs138306798	0.00010
NM_000303.3(PMM2):c.441C>T (p.Leu147=)	rs146990448	0.00010
NM_000352.6(ABCC8):c.4227C>T (p.Ile1409=)	rs146584228	0.00010
NM_000360.4(TH):c.126C>A (p.Ile42=)	rs755664117	0.00010
NM_000360.4(TH):c.1389G>A (p.Thr463=)	rs370029424	0.00010
NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val)	rs111033423	0.00010
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu)	rs111033309	0.00010
NM_000481.4(AMT):c.1062C>A (p.Pro354=)	rs377227163	0.00010
NM_000481.4(AMT):c.701C>T (p.Ser234Leu)	rs150998074	0.00010
NM_000489.6(ATRX):c.2806G>C (p.Val936Leu)	rs149232501	0.00010
NM_000492.4(CFTR):c.4092G>A (p.Ala1364=)	rs148878126	0.00010
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)	rs200990725	0.00010
NM_000528.4(MAN2B1):c.2670A>G (p.Ser890=)	rs199606152	0.00010
NM_000642.3(AGL):c.3290G>A (p.Arg1097His)	rs185947256	0.00010
NM_000709.4(BCKDHA):c.159G>C (p.Gln53His)	rs775471043	0.00010
NM_000784.4(CYP27A1):c.1017G>A (p.Thr339=)	rs200553205	0.00010
NM_000784.4(CYP27A1):c.256G>A (p.Val86Met)	rs200604732	0.00010
NM_000784.4(CYP27A1):c.379C>T (p.Arg127Trp)	rs201114717	0.00010
NM_000784.4(CYP27A1):c.792G>A (p.Val264=)	rs144018609	0.00010
NM_001003722.2(GLE1):c.1706G>A (p.Arg569His)	rs121434407	0.00010
NM_001126108.2(SLC12A3):c.961C>T (p.Arg321Trp)	rs150046661	0.00010
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=)	rs199955501	0.00010
NM_001164508.2(NEB):c.1182A>C (p.Thr394=)	rs186233985	0.00010
NM_001164508.2(NEB):c.13G>A (p.Glu5Lys)	rs374390581	0.00010
NM_001164508.2(NEB):c.18224A>C (p.His6075Pro)	rs768813228	0.00010
NM_001164508.2(NEB):c.19406G>A (p.Arg6469Gln)	rs556624010	0.00010
NM_001164508.2(NEB):c.19751T>G (p.Met6584Arg)	rs190605644	0.00010
NM_001164508.2(NEB):c.21525C>T (p.Ile7175=)	rs369183371	0.00010
NM_001164508.2(NEB):c.23812C>T (p.Arg7938Cys)	rs372117694	0.00010
NM_001164508.2(NEB):c.25564G>A (p.Val8522Ile)	rs117861109	0.00010
NM_001164508.2(NEB):c.4904C>T (p.Thr1635Ile)	rs199662534	0.00010
NM_001164508.2(NEB):c.5495T>C (p.Ile1832Thr)	rs751494785	0.00010
NM_001164508.2(NEB):c.6369G>A (p.Thr2123=)	rs540542570	0.00010
NM_001164508.2(NEB):c.8019C>T (p.Leu2673=)	rs755883171	0.00010
NM_001369.3(DNAH5):c.10347C>T (p.Ala3449=)	rs150773884	0.00010
NM_001369.3(DNAH5):c.12105G>A (p.Thr4035=)	rs199735129	0.00010
NM_001369.3(DNAH5):c.1955G>A (p.Ser652Asn)	rs749126116	0.00010
NM_001369.3(DNAH5):c.4689C>T (p.Gly1563=)	rs375658702	0.00010
NM_001369.3(DNAH5):c.8765G>A (p.Arg2922His)	rs148539877	0.00010
NM_001369.3(DNAH5):c.9626A>G (p.Lys3209Arg)	rs201473584	0.00010
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met)	rs104893688	0.00010
NM_001378454.1(ALMS1):c.8883G>A (p.Pro2961=)	rs367862140	0.00010
NM_001378454.1(ALMS1):c.9600A>C (p.Ala3200=)	rs113808259	0.00010
NM_001875.5(CPS1):c.186C>T (p.Gly62=)	rs529836556	0.00010
NM_001875.5(CPS1):c.2696T>C (p.Met899Thr)	rs201340295	0.00010
NM_001876.4(CPT1A):c.1340G>A (p.Arg447Gln)	rs757593086	0.00010
NM_002225.5(IVD):c.707C>T (p.Thr236Ile)	rs146861563	0.00010
NM_002529.4(NTRK1):c.659G>A (p.Arg220Gln)	rs540751200	0.00010
NM_003227.4(TFR2):c.1076T>A (p.Ile359Asn)	rs140020076	0.00010
NM_004006.3(DMD):c.1184G>A (p.Arg395Gln)	rs148511512	0.00010
NM_004006.3(DMD):c.1318G>A (p.Glu440Lys)	rs189143447	0.00010
NM_004629.2(FANCG):c.722C>T (p.Pro241Leu)	rs201438531	0.00010
NM_005957.5(MTHFR):c.1003C>T (p.Arg335Cys)	rs748289202	0.00010
NM_006118.4(HAX1):c.505-4G>A	rs186219647	0.00010
NM_006261.5(PROP1):c.349T>A (p.Phe117Ile)	rs121917840	0.00010
NM_006623.4(PHGDH):c.1543C>T (p.Leu515=)	rs148721434	0.00010
NM_007259.5(VPS45):c.897A>G (p.Pro299=)	rs184193549	0.00010
NM_014244.5(ADAMTS2):c.1431G>A (p.Ala477=)	rs147259971	0.00010
NM_014244.5(ADAMTS2):c.2085+8C>A	rs199825726	0.00010
NM_014244.5(ADAMTS2):c.423C>T (p.Gly141=)	rs755099137	0.00010
NM_014252.4(SLC25A15):c.861C>T (p.Tyr287=)	rs148422923	0.00010
NM_015166.4(MLC1):c.95C>T (p.Ala32Val)	rs200382943	0.00010
NM_024685.4(BBS10):c.1590A>C (p.Arg530Ser)	rs146812823	0.00010
NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro)	rs138043021	0.00010
NM_033159.4(HYAL1):c.454C>T (p.Arg152Trp)	rs587774476	0.00010
NM_138694.4(PKHD1):c.1849T>C (p.Tyr617His)	rs141177165	0.00010
NM_138694.4(PKHD1):c.6687T>C (p.Ser2229=)	rs148497044	0.00010
NM_152564.5(VPS13B):c.2885C>T (p.Thr962Met)	rs547184348	0.00010
NM_152564.5(VPS13B):c.3297A>C (p.Thr1099=)	rs200982547	0.00010
NM_152564.5(VPS13B):c.6657+1G>A	rs180177366	0.00010
NM_152564.5(VPS13B):c.7087A>C (p.Lys2363Gln)	rs533701597	0.00010
NM_182760.4(SUMF1):c.776A>T (p.Asn259Ile)	rs764215221	0.00010
NM_206933.4(USH2A):c.4445C>T (p.Thr1482Ile)	rs200790812	0.00010
NR_003051.4(RMRP):n.244A>G	rs551450545	0.00010
NM_000018.4(ACADVL):c.114G>C (p.Arg38=)	rs777380964	0.00009
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr)	rs138834083	0.00009
NM_000018.4(ACADVL):c.520G>A (p.Val174Met)	rs369560930	0.00009
NM_000022.4(ADA):c.632G>A (p.Arg211His)	rs121908716	0.00009
NM_000022.4(ADA):c.714C>T (p.His238=)	rs577317154	0.00009
NM_000023.4(SGCA):c.764C>T (p.Pro255Leu)	rs138019537	0.00009
NM_000048.4(ASL):c.1270G>A (p.Val424Met)	rs368264870	0.00009
NM_000051.4(ATM):c.133C>T (p.Arg45Trp)	rs3218684	0.00009
NM_000051.4(ATM):c.3628A>G (p.Met1210Val)	rs138212452	0.00009
NM_000051.4(ATM):c.5005+7_5005+8del	rs587780626	0.00009
NM_000051.4(ATM):c.6382T>C (p.Leu2128=)	rs753646931	0.00009
NM_000051.4(ATM):c.670A>G (p.Lys224Glu)	rs145053092	0.00009
NM_000051.4(ATM):c.7757A>G (p.Asn2586Ser)	rs587778079	0.00009
NM_000053.4(ATP7B):c.2731-2A>G	rs367956522	0.00009
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala)	rs374094065	0.00009
NM_000053.4(ATP7B):c.3396C>T (p.Ser1132=)	rs370947152	0.00009
NM_000053.4(ATP7B):c.3859G>A (p.Gly1287Ser)	rs762866453	0.00009
NM_000053.4(ATP7B):c.4162G>A (p.Ala1388Thr)	rs745866259	0.00009
NM_000053.4(ATP7B):c.610A>G (p.Met204Val)	rs200605351	0.00009
NM_000057.4(BLM):c.2739C>T (p.Leu913=)	rs759223856	0.00009
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys)	rs149914792	0.00009
NM_000094.4(COL7A1):c.7674C>T (p.Asp2558=)	rs201140493	0.00009
NM_000103.4(CYP19A1):c.336C>T (p.Tyr112=)	rs139905959	0.00009
NM_000128.4(F11):c.1059C>T (p.Asn353=)	rs766026346	0.00009
NM_000128.4(F11):c.486-10T>A	rs370991682	0.00009
NM_000135.4(FANCA):c.1371G>T (p.Gly457=)	rs369988875	0.00009
NM_000135.4(FANCA):c.2309G>A (p.Arg770His)	rs145552439	0.00009
NM_000135.4(FANCA):c.3114C>T (p.Leu1038=)	rs55758861	0.00009
NM_000135.4(FANCA):c.3138C>T (p.His1046=)	rs150884376	0.00009
NM_000135.4(FANCA):c.737G>A (p.Gly246Glu)	rs555519520	0.00009
NM_000152.5(GAA):c.1979G>A (p.Arg660His)	rs374143224	0.00009
NM_000153.4(GALC):c.1586C>T (p.Thr529Met)	rs200960659	0.00009
NM_000154.2(GALK1):c.1116C>T (p.Tyr372=)	rs763195503	0.00009
NM_000159.4(GCDH):c.886G>A (p.Gly296Ser)	rs539505767	0.00009
NM_000170.3(GLDC):c.2607C>A (p.Pro869=)	rs386833565	0.00009
NM_000195.5(HPS1):c.179C>T (p.Thr60Met)	rs200004304	0.00009
NM_000199.5(SGSH):c.506+9C>T	rs376523398	0.00009
NM_000199.5(SGSH):c.636C>T (p.Pro212=)	rs771680187	0.00009
NM_000199.5(SGSH):c.780C>T (p.Ala260=)	rs530964770	0.00009
NM_000206.3(IL2RG):c.1042G>A (p.Ala348Thr)	rs140216601	0.00009
NM_000206.3(IL2RG):c.86C>T (p.Thr29Met)	rs375921454	0.00009
NM_000206.3(IL2RG):c.912C>T (p.His304=)	rs145282692	0.00009
NM_000231.3(SGCG):c.506-7T>G	rs774582375	0.00009
NM_000246.4(CIITA):c.1731C>T (p.Tyr577=)	rs142848848	0.00009
NM_000260.4(MYO7A):c.549G>A (p.Ser183=)	rs188198404	0.00009
NM_000263.4(NAGLU):c.1435G>A (p.Ala479Thr)	rs202115696	0.00009
NM_000271.5(NPC1):c.2775C>T (p.Asn925=)	rs147419225	0.00009
NM_000274.4(OAT):c.1015-5C>T	rs764963374	0.00009
NM_000277.3(PAH):c.1045T>C (p.Ser349Pro)	rs62508646	0.00009
NM_000277.3(PAH):c.434A>T (p.Asp145Val)	rs140175796	0.00009
NM_000277.3(PAH):c.60+9C>T	rs369454152	0.00009
NM_000317.3(PTS):c.174A>G (p.Thr58=)	rs745627441	0.00009
NM_000317.3(PTS):c.317C>T (p.Thr106Met)	rs200712908	0.00009
NM_000330.4(RS1):c.184+9C>T	rs377631416	0.00009
NM_000352.6(ABCC8):c.2544C>T (p.Asn848=)	rs144200345	0.00009
NM_000359.3(TGM1):c.177C>T (p.Asp59=)	rs8193031	0.00009
NM_000383.4(AIRE):c.825G>C (p.Gln275His)	rs1027582142	0.00009
NM_000396.4(CTSK):c.22C>T (p.Leu8=)	rs138360770	0.00009
NM_000414.4(HSD17B4):c.1566T>A (p.Ser522Arg)	rs184492796	0.00009
NM_000481.4(AMT):c.589G>C (p.Asp197His)	rs200550585	0.00009
NM_000481.4(AMT):c.696+9A>G	rs758602446	0.00009
NM_000487.6(ARSA):c.972C>T (p.Ile324=)	rs200567315	0.00009
NM_000489.6(ATRX):c.3065G>A (p.Arg1022Gln)	rs781811015	0.00009
NM_000489.6(ATRX):c.6871A>G (p.Ile2291Val)	rs374244026	0.00009
NM_000492.4(CFTR):c.1731C>T (p.Tyr577=)	rs55928397	0.00009
NM_000492.4(CFTR):c.2173G>A (p.Glu725Lys)	rs199791061	0.00009
NM_000492.4(CFTR):c.332C>T (p.Pro111Leu)	rs140502196	0.00009
NM_000492.4(CFTR):c.4357C>T (p.Arg1453Trp)	rs4148725	0.00009
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)	rs201573863	0.00009
NM_000527.5(LDLR):c.2289G>T (p.Glu763Asp)	rs774698247	0.00009
NM_000527.5(LDLR):c.344G>A (p.Arg115His)	rs201102461	0.00009
NM_000527.5(LDLR):c.907C>T (p.Arg303Trp)	rs151207122	0.00009
NM_000528.4(MAN2B1):c.474C>T (p.Asn158=)	rs146331898	0.00009
NM_000532.5(PCCB):c.1215C>T (p.Tyr405=)	rs191375566	0.00009
NM_000558.5(HBA1):c.237del (p.Asn79fs)	rs767911847	0.00009
NM_000642.3(AGL):c.1602C>T (p.His534=)	rs563472929	0.00009
NM_000642.3(AGL):c.2930G>A (p.Arg977Gln)	rs147977213	0.00009
NM_000709.4(BCKDHA):c.853G>C (p.Ala285Pro)	rs398123508	0.00009
NM_001003722.2(GLE1):c.564G>C (p.Arg188=)	rs559370225	0.00009
NM_001039958.2(MESP2):c.168T>G (p.Pro56=)	rs894593728	0.00009
NM_001079866.2(BCS1L):c.325C>T (p.Arg109Trp)	rs141257714	0.00009
NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His)	rs121909380	0.00009
NM_001142800.2(EYS):c.7284A>C (p.Ser2428=)	rs775877185	0.00009
NM_001164508.2(NEB):c.16817A>G (p.Tyr5606Cys)	rs372049328	0.00009
NM_001164508.2(NEB):c.17462G>A (p.Arg5821His)	rs773239926	0.00009
NM_001164508.2(NEB):c.17844+7C>T	rs373259828	0.00009
NM_001164508.2(NEB):c.18278A>T (p.Asn6093Ile)	rs370695020	0.00009
NM_001164508.2(NEB):c.18859C>T (p.Arg6287Cys)	rs374606967	0.00009
NM_001164508.2(NEB):c.18866G>A (p.Arg6289Gln)	rs575958060	0.00009
NM_001164508.2(NEB):c.21757G>A (p.Glu7253Lys)	rs745791097	0.00009
NM_001164508.2(NEB):c.4938C>T (p.Asn1646=)	rs765208384	0.00009
NM_001164508.2(NEB):c.5939T>C (p.Leu1980Ser)	rs375412223	0.00009
NM_001164508.2(NEB):c.7914C>T (p.Ser2638=)	rs373353657	0.00009
NM_001164508.2(NEB):c.8800C>T (p.Arg2934Cys)	rs771598053	0.00009
NM_001243279.3(ACSF3):c.1081G>A (p.Gly361Ser)	rs145285434	0.00009
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter)	rs373740199	0.00009
NM_001352514.2(HLCS):c.1974dup (p.Val659fs)	rs767533946	0.00009
NM_001360.3(DHCR7):c.278C>T (p.Thr93Met)	rs80338853	0.00009
NM_001360.3(DHCR7):c.440G>A (p.Gly147Asp)	rs777425801	0.00009
NM_001360.3(DHCR7):c.735C>T (p.Ile245=)	rs12800	0.00009
NM_001369.3(DNAH5):c.10036A>G (p.Thr3346Ala)	rs141971313	0.00009
NM_001369.3(DNAH5):c.10658G>A (p.Arg3553Gln)	rs144393366	0.00009
NM_001369.3(DNAH5):c.11512G>A (p.Glu3838Lys)	rs190450522	0.00009
NM_001369.3(DNAH5):c.12251G>A (p.Arg4084Gln)	rs140832239	0.00009
NM_001369.3(DNAH5):c.12272T>C (p.Met4091Thr)	rs142570731	0.00009
NM_001369.3(DNAH5):c.1362A>G (p.Lys454=)	rs371157628	0.00009
NM_001369.3(DNAH5):c.20G>A (p.Arg7Lys)	rs139728564	0.00009
NM_001369.3(DNAH5):c.3656G>A (p.Arg1219His)	rs73055857	0.00009
NM_001369.3(DNAH5):c.6407C>T (p.Thr2136Met)	rs140690090	0.00009
NM_001369.3(DNAH5):c.6970A>G (p.Thr2324Ala)	rs143074036	0.00009
NM_001369.3(DNAH5):c.8828G>A (p.Arg2943His)	rs184758570	0.00009
NM_001370658.1(BTD):c.1395C>G (p.His465Gln)	rs201604102	0.00009
NM_001378454.1(ALMS1):c.8595A>G (p.Val2865=)	rs1052804740	0.00009
NM_001378454.1(ALMS1):c.9538C>G (p.Arg3180Gly)	rs563393715	0.00009
NM_001384474.1(LOXHD1):c.4068G>A (p.Arg1356=)	rs539688337	0.00009
NM_001386140.1(MTTP):c.124G>A (p.Val42Ile)	rs756998920	0.00009
NM_001386140.1(MTTP):c.915G>A (p.Ser305=)	rs199716549	0.00009
NM_001692.4(ATP6V1B1):c.232G>A (p.Gly78Arg)	rs121964881	0.00009
NM_001875.5(CPS1):c.1087-7C>T	rs202117044	0.00009
NM_001876.4(CPT1A):c.1910C>T (p.Ser637Phe)	rs150459546	0.00009
NM_002435.3(MPI):c.378G>A (p.Pro126=)	rs752948071	0.00009
NM_003060.4(SLC22A5):c.1400C>G (p.Ser467Cys)	rs60376624	0.00009
NM_003060.4(SLC22A5):c.728A>C (p.Tyr243Ser)	rs1321621475	0.00009
NM_003742.4(ABCB11):c.1460G>A (p.Arg487His)	rs188824058	0.00009
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)	rs104894408	0.00009
NM_004006.3(DMD):c.5400A>C (p.Glu1800Asp)	rs757290084	0.00009
NM_004453.4(ETFDH):c.1692A>T (p.Gly564=)	rs377544087	0.00009
NM_004453.4(ETFDH):c.63T>C (p.Ile21=)	rs566605780	0.00009
NM_005609.4(PYGM):c.1403+5G>A	rs373040789	0.00009
NM_005609.4(PYGM):c.425-26A>G	rs764313717	0.00009
NM_005609.4(PYGM):c.63C>T (p.Gly21=)	rs368124628	0.00009
NM_005609.4(PYGM):c.877C>T (p.Arg293Trp)	rs558267822	0.00009
NM_005957.5(MTHFR):c.1878C>T (p.Phe626=)	rs199707466	0.00009
NM_005957.5(MTHFR):c.700G>A (p.Asp234Asn)	rs45589033	0.00009
NM_006493.4(CLN5):c.-4C>T	rs587780896	0.00009
NM_007259.5(VPS45):c.1197C>A (p.Ser399Arg)	rs371572450	0.00009
NM_012144.4(DNAI1):c.672A>G (p.Thr224=)	rs201101182	0.00009
NM_012203.2(GRHPR):c.742G>A (p.Val248Ile)	rs369950120	0.00009
NM_014140.4(SMARCAL1):c.1414G>A (p.Ala472Thr)	rs571392819	0.00009
NM_014140.4(SMARCAL1):c.2070+2dup	rs762716070	0.00009
NM_014844.5(TECPR2):c.3990C>T (p.Asn1330=)	rs757779692	0.00009
NM_017739.4(POMGNT1):c.1895+1G>T	rs386834024	0.00009
NM_018941.4(CLN8):c.300G>A (p.Gln100=)	rs148988002	0.00009
NM_020533.3(MCOLN1):c.1179G>A (p.Ser393=)	rs201232288	0.00009
NM_020533.3(MCOLN1):c.89C>T (p.Pro30Leu)	rs200297215	0.00009
NM_022124.6(CDH23):c.1282G>A (p.Asp428Asn)	rs188376296	0.00009
NM_023036.6(DNAI2):c.1485A>G (p.Val495=)	rs200587166	0.00009
NM_023036.6(DNAI2):c.1698C>T (p.Asp566=)	rs142710343	0.00009
NM_024685.4(BBS10):c.1333C>A (p.Leu445Ile)	rs199878555	0.00009
NM_024685.4(BBS10):c.1975A>T (p.Ile659Leu)	rs771355732	0.00009
NM_032520.5(GNPTG):c.713G>A (p.Gly238Glu)	rs202080062	0.00009
NM_033305.3(VPS13A):c.5227C>T (p.Pro1743Ser)	rs182495915	0.00009
NM_052845.4(MMAB):c.561C>T (p.Ala187=)	rs370773720	0.00009
NM_054012.4(ASS1):c.1003C>T (p.Arg335Cys)	rs373514077	0.00009
NM_054012.4(ASS1):c.19G>A (p.Val7Met)	rs149938546	0.00009
NM_130849.4(SLC39A4):c.804+9C>T	rs200693339	0.00009
NM_133259.4(LRPPRC):c.3586G>A (p.Ala1196Thr)	rs142097048	0.00009
NM_138413.4(HOGA1):c.860G>T (p.Gly287Val)	rs138207257	0.00009
NM_138694.4(PKHD1):c.10354A>G (p.Thr3452Ala)	rs562503637	0.00009
NM_138694.4(PKHD1):c.2162C>T (p.Thr721Met)	rs140608845	0.00009
NM_138694.4(PKHD1):c.3835G>A (p.Ala1279Thr)	rs201611688	0.00009
NM_138694.4(PKHD1):c.5193G>A (p.Val1731=)	rs146531432	0.00009
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu)	rs201105958	0.00009
NM_138694.4(PKHD1):c.9345A>G (p.Glu3115=)	rs760710708	0.00009
NM_152419.3(HGSNAT):c.741G>A (p.Arg247=)	rs775663094	0.00009
NM_152564.5(VPS13B):c.11897A>T (p.Lys3966Ile)	rs117934093	0.00009
NM_152564.5(VPS13B):c.9013A>G (p.Ile3005Val)	rs142110082	0.00009
NM_153006.3(NAGS):c.940G>A (p.Ala314Thr)	rs186127828	0.00009
NM_206933.4(USH2A):c.2167+5G>A	rs771583281	0.00009
NM_000022.4(ADA):c.221G>T (p.Gly74Val)	rs199422328	0.00008
NM_000048.4(ASL):c.337C>T (p.Arg113Trp)	rs767543051	0.00008
NM_000048.4(ASL):c.571C>T (p.Arg191Trp)	rs143508372	0.00008
NM_000048.4(ASL):c.72C>T (p.Phe24=)	rs760059034	0.00008
NM_000049.4(ASPA):c.237-6T>C	rs370219865	0.00008
NM_000051.4(ATM):c.6503C>T (p.Ser2168Leu)	rs200431631	0.00008
NM_000051.4(ATM):c.7778A>G (p.Gln2593Arg)	rs587779867	0.00008
NM_000051.4(ATM):c.8391T>C (p.Ser2797=)	rs566485657	0.00008
NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala)	rs587783299	0.00008
NM_000053.4(ATP7B):c.3316G>A (p.Val1106Ile)	rs541208827	0.00008
NM_000057.4(BLM):c.204C>T (p.Thr68=)	rs199927688	0.00008
NM_000070.3(CAPN3):c.1404C>T (p.Asp468=)	rs534326487	0.00008
NM_000091.5(COL4A3):c.2452G>A (p.Gly818Arg)	rs868002181	0.00008
NM_000094.4(COL7A1):c.1604C>A (p.Thr535Asn)	rs200868430	0.00008
NM_000133.4(F9):c.1345C>T (p.Arg449Trp)	rs757996262	0.00008
NM_000135.4(FANCA):c.2072A>G (p.Asn691Ser)	rs367880372	0.00008
NM_000135.4(FANCA):c.3644C>A (p.Ala1215Asp)	rs199601218	0.00008
NM_000135.4(FANCA):c.3935-6T>C	rs368376237	0.00008
NM_000135.4(FANCA):c.4064A>T (p.His1355Leu)	rs145886270	0.00008
NM_000135.4(FANCA):c.869C>A (p.Ser290Tyr)	rs185984960	0.00008
NM_000152.5(GAA):c.1265G>A (p.Arg422Gln)	rs2229224	0.00008
NM_000152.5(GAA):c.1552-3C>G	rs375470378	0.00008
NM_000152.5(GAA):c.2041-4G>T	rs775757700	0.00008
NM_000152.5(GAA):c.2320G>A (p.Asp774Asn)	rs758390382	0.00008
NM_000152.5(GAA):c.533G>A (p.Arg178His)	rs762267535	0.00008
NM_000152.5(GAA):c.711G>A (p.Ala237=)	rs368328598	0.00008
NM_000152.5(GAA):c.761C>T (p.Ser254Leu)	rs577915581	0.00008
NM_000152.5(GAA):c.853C>T (p.Pro285Ser)	rs886042086	0.00008
NM_000170.3(GLDC):c.668C>G (p.Pro223Arg)	rs201049516	0.00008
NM_000182.5(HADHA):c.2147-8C>G	rs368976628	0.00008
NM_000195.5(HPS1):c.90C>T (p.Phe30=)	rs765362355	0.00008
NM_000231.3(SGCG):c.497G>A (p.Arg166Gln)	rs776289036	0.00008
NM_000243.3(MEFV):c.1958G>A (p.Arg653His)	rs104895085	0.00008
NM_000246.4(CIITA):c.1486C>T (p.Leu496Phe)	rs756970534	0.00008
NM_000246.4(CIITA):c.2384G>A (p.Arg795Gln)	rs553503699	0.00008
NM_000274.4(OAT):c.539G>C (p.Arg180Thr)	rs121965040	0.00008
NM_000277.3(PAH):c.1140G>A (p.Thr380=)	rs373763334	0.00008
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly)	rs5030856	0.00008
NM_000277.3(PAH):c.204A>T (p.Arg68Ser)	rs76394784	0.00008
NM_000282.4(PCCA):c.914+8T>A	rs543352333	0.00008
NM_000284.4(PDHA1):c.870C>T (p.His290=)	rs761411007	0.00008
NM_000352.6(ABCC8):c.279C>A (p.Ile93=)	rs550990673	0.00008
NM_000359.3(TGM1):c.420A>G (p.Ile140Met)	rs139208806	0.00008
NM_000370.3(TTPA):c.358G>A (p.Ala120Thr)	rs143010236	0.00008
NM_000383.4(AIRE):c.1095+2T>C	rs760280615	0.00008
NM_000391.4(TPP1):c.1058C>A (p.Thr353Asn)	rs145966505	0.00008
NM_000396.4(CTSK):c.953G>A (p.Cys318Tyr)	rs762780994	0.00008
NM_000441.2(SLC26A4):c.2029C>T (p.Arg677Trp)	rs397516426	0.00008
NM_000489.6(ATRX):c.7435A>G (p.Met2479Val)	rs200478641	0.00008
NM_000489.6(ATRX):c.831C>T (p.Val277=)	rs142561199	0.00008
NM_000492.4(CFTR):c.1054C>T (p.Arg352Trp)	rs193922497	0.00008
NM_000492.4(CFTR):c.125C>T (p.Ser42Phe)	rs143456784	0.00008
NM_000492.4(CFTR):c.3659C>T (p.Thr1220Ile)	rs1800123	0.00008
NM_000520.6(HEXA):c.102C>T (p.Asp34=)	rs377310315	0.00008
NM_000527.5(LDLR):c.1503G>A (p.Ala501=)	rs368889457	0.00008
NM_000527.5(LDLR):c.2179G>A (p.Val727Ile)	rs769247787	0.00008
NM_001079866.2(BCS1L):c.547C>T (p.Arg183Cys)	rs144885874	0.00008
NM_001126108.2(SLC12A3):c.1664C>T (p.Ser555Leu)	rs148038173	0.00008
NM_001126108.2(SLC12A3):c.1946C>T (p.Thr649Met)	rs145337602	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_001142800.2(EYS):c.2953_2961del (p.Thr985_Gly987del)	rs756068592	0.00008
NM_001142800.2(EYS):c.4392G>T (p.Gly1464=)	rs745673114	0.00008
NM_001164507.2(NEB):c.21396C>T (p.Thr7132=)	rs759637718	0.00008
NM_001164508.2(NEB):c.11559T>C (p.Asn3853=)	rs369429046	0.00008
NM_001164508.2(NEB):c.17203G>A (p.Ala5735Thr)	rs202111641	0.00008
NM_001164508.2(NEB):c.17215G>A (p.Asp5739Asn)	rs200672818	0.00008
NM_001164508.2(NEB):c.23770G>A (p.Gly7924Ser)	rs369602540	0.00008
NM_001164508.2(NEB):c.23840T>G (p.Leu7947Trp)	rs200559481	0.00008
NM_001164508.2(NEB):c.2415T>C (p.Asp805=)	rs566989836	0.00008
NM_001164508.2(NEB):c.3416C>T (p.Thr1139Met)	rs181244403	0.00008
NM_001164508.2(NEB):c.4431T>C (p.Asp1477=)	rs140558263	0.00008
NM_001164508.2(NEB):c.8039G>A (p.Arg2680Gln)	rs201746137	0.00008
NM_001164508.2(NEB):c.9619-9C>T	rs778009768	0.00008
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His)	rs201540674	0.00008
NM_001283009.2(RTEL1):c.2232C>T (p.Asp744=)	rs146666432	0.00008
NM_001360.3(DHCR7):c.840C>T (p.Tyr280=)	rs148468879	0.00008
NM_001369.3(DNAH5):c.13591G>A (p.Glu4531Lys)	rs201242847	0.00008
NM_001369.3(DNAH5):c.2471T>C (p.Ile824Thr)	rs147108941	0.00008
NM_001369.3(DNAH5):c.3428G>A (p.Arg1143His)	rs150739124	0.00008
NM_001369.3(DNAH5):c.4133T>C (p.Ile1378Thr)	rs536502106	0.00008
NM_001369.3(DNAH5):c.7888-4A>G	rs775268409	0.00008
NM_001369.3(DNAH5):c.946C>T (p.Leu316Phe)	rs201706790	0.00008
NM_001369.3(DNAH5):c.9911C>T (p.Ser3304Leu)	rs139821753	0.00008
NM_001378454.1(ALMS1):c.451-5T>G	rs774098604	0.00008
NM_001875.5(CPS1):c.2143G>T (p.Val715Leu)	rs551261693	0.00008
NM_001875.5(CPS1):c.528+9A>G	rs369476447	0.00008
NM_001876.4(CPT1A):c.145G>A (p.Gly49Ser)	rs552007692	0.00008
NM_001876.4(CPT1A):c.2028+7C>G	rs768465007	0.00008
NM_002529.4(NTRK1):c.824A>C (p.Glu275Ala)	rs138533001	0.00008
NM_003982.4(SLC7A7):c.123C>T (p.Asn41=)	rs367673752	0.00008
NM_004004.6(GJB2):c.132G>A (p.Trp44Ter)	rs104894407	0.00008
NM_004004.6(GJB2):c.283G>A (p.Val95Met)	rs111033299	0.00008
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln)	rs373190458	0.00008
NM_006019.4(TCIRG1):c.826C>T (p.Arg276Trp)	rs543099977	0.00008
NM_006623.4(PHGDH):c.1255G>A (p.Gly419Arg)	rs145344767	0.00008
NM_006623.4(PHGDH):c.422C>T (p.Thr141Ile)	rs200037593	0.00008
NM_007259.5(VPS45):c.1395G>A (p.Gln465=)	rs782595882	0.00008
NM_012203.2(GRHPR):c.357A>G (p.Leu119=)	rs186922220	0.00008
NM_012203.2(GRHPR):c.494G>A (p.Gly165Asp)	rs180177314	0.00008
NM_012203.2(GRHPR):c.543G>C (p.Leu181=)	rs370395134	0.00008
NM_014140.4(SMARCAL1):c.2649C>T (p.Tyr883=)	rs182217350	0.00008
NM_014363.6(SACS):c.6561C>T (p.Ile2187=)	rs143477126	0.00008
NM_014363.6(SACS):c.7394C>T (p.Ser2465Leu)	rs747676277	0.00008
NM_018006.5(TRMU):c.1188C>G (p.Gly396=)	rs142346622	0.00008
NM_020166.5(MCCC1):c.1155A>C (p.Arg385Ser)	rs119103213	0.00008
NM_023036.6(DNAI2):c.855G>A (p.Thr285=)	rs144909415	0.00008
NM_024685.4(BBS10):c.1265G>A (p.Arg422Gln)	rs138961848	0.00008
NM_032520.5(GNPTG):c.758C>A (p.Ser253Ter)	rs761299690	0.00008
NM_033305.3(VPS13A):c.5786A>G (p.Asn1929Ser)	rs748876393	0.00008
NM_054012.4(ASS1):c.773C>T (p.Ala258Val)	rs753078725	0.00008
NM_138694.4(PKHD1):c.11007G>A (p.Ser3669=)	rs142855690	0.00008
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val)	rs369925690	0.00008
NM_138694.4(PKHD1):c.9714A>G (p.Gly3238=)	rs754654892	0.00008
NM_152564.5(VPS13B):c.10868-7G>A	rs376141593	0.00008
NM_152564.5(VPS13B):c.436C>T (p.Arg146Ter)	rs144539572	0.00008
NM_000016.6(ACADM):c.250C>T (p.Leu84Phe)	rs762114560	0.00007
NM_000016.6(ACADM):c.583G>A (p.Gly195Arg)	rs121434278	0.00007
NM_000022.4(ADA):c.320T>C (p.Leu107Pro)	rs121908739	0.00007
NM_000022.4(ADA):c.821C>T (p.Pro274Leu)	rs121908738	0.00007
NM_000030.3(AGXT):c.822G>C (p.Glu274Asp)	rs146525143	0.00007
NM_000033.4(ABCD1):c.1125G>A (p.Glu375=)	rs781928741	0.00007
NM_000033.4(ABCD1):c.504C>G (p.Ala168=)	rs782453684	0.00007
NM_000033.4(ABCD1):c.870G>A (p.Ser290=)	rs782563177	0.00007
NM_000048.4(ASL):c.1153C>T (p.Arg385Cys)	rs28940286	0.00007
NM_000051.4(ATM):c.749G>A (p.Arg250Gln)	rs56123940	0.00007
NM_000053.4(ATP7B):c.1415C>T (p.Pro472Leu)	rs771789585	0.00007
NM_000053.4(ATP7B):c.2479C>T (p.Arg827Trp)	rs539585071	0.00007
NM_000057.4(BLM):c.178T>A (p.Leu60Ile)	rs138542210	0.00007
NM_000080.4(CHRNE):c.1071G>A (p.Pro357=)	rs772143528	0.00007
NM_000080.4(CHRNE):c.1446G>A (p.Val482=)	rs376713095	0.00007
NM_000094.4(COL7A1):c.215C>A (p.Ala72Asp)	rs138319290	0.00007
NM_000094.4(COL7A1):c.3112C>T (p.Pro1038Ser)	rs148291967	0.00007
NM_000094.4(COL7A1):c.4287C>T (p.Pro1429=)	rs749814590	0.00007
NM_000094.4(COL7A1):c.8007G>C (p.Gln2669His)	rs369881673	0.00007
NM_000098.3(CPT2):c.846C>T (p.Pro282=)	rs138855128	0.00007
NM_000098.3(CPT2):c.84C>T (p.Gly28=)	rs772541454	0.00007
NM_000135.4(FANCA):c.2222+7G>A	rs374312736	0.00007
NM_000135.4(FANCA):c.265C>T (p.His89Tyr)	rs746125523	0.00007
NM_000135.4(FANCA):c.2662G>A (p.Val888Ile)	rs774863156	0.00007
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=)	rs149797103	0.00007
NM_000135.4(FANCA):c.685G>A (p.Asp229Asn)	rs148419748	0.00007
NM_000136.3(FANCC):c.609C>T (p.Leu203=)	rs567226063	0.00007
NM_000143.4(FH):c.12A>G (p.Ala4=)	rs201277370	0.00007
NM_000152.5(GAA):c.1048G>A (p.Val350Met)	rs200412003	0.00007
NM_000152.5(GAA):c.1194+3G>C	rs368539333	0.00007
NM_000152.5(GAA):c.658G>T (p.Val220Leu)	rs530478036	0.00007
NM_000154.2(GALK1):c.1036G>A (p.Gly346Ser)	rs375690568	0.00007
NM_000156.6(GAMT):c.314G>A (p.Arg105Gln)	rs148838075	0.00007
NM_000156.6(GAMT):c.396C>A (p.Ile132=)	rs200500835	0.00007
NM_000159.4(GCDH):c.1147C>T (p.Arg383Cys)	rs150938052	0.00007
NM_000198.4(HSD3B2):c.750T>C (p.Gly250=)	rs755461071	0.00007
NM_000199.5(SGSH):c.720C>T (p.Tyr240=)	rs367654527	0.00007
NM_000202.8(IDS):c.162T>C (p.Tyr54=)	rs141088021	0.00007
NM_000203.5(IDUA):c.1031C>G (p.Ala344Gly)	rs202191662	0.00007
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro)	rs199801029	0.00007
NM_000206.3(IL2RG):c.759G>T (p.Glu253Asp)	rs200239526	0.00007
NM_000243.3(MEFV):c.2049G>A (p.Ser683=)	rs104895092	0.00007
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile)	rs28940578	0.00007
NM_000243.3(MEFV):c.416C>A (p.Ala139Asp)	rs575678784	0.00007
NM_000243.3(MEFV):c.866C>T (p.Ala289Val)	rs104895132	0.00007
NM_000246.4(CIITA):c.1683C>T (p.Asp561=)	rs76686583	0.00007
NM_000282.4(PCCA):c.1284+1G>A	rs752761437	0.00007
NM_000352.6(ABCC8):c.3329+7G>A	rs776313489	0.00007
NM_000360.4(TH):c.1442G>A (p.Gly481Asp)	rs564949885	0.00007
NM_000360.4(TH):c.252G>A (p.Leu84=)	rs758016812	0.00007
NM_000360.4(TH):c.685A>T (p.Ile229Phe)	rs778613708	0.00007
NM_000383.4(AIRE):c.1095+10C>T	rs372932833	0.00007
NM_000383.4(AIRE):c.1323G>A (p.Thr441=)	rs201945690	0.00007
NM_000383.4(AIRE):c.652+1G>T	rs199612115	0.00007
NM_000391.4(TPP1):c.1033A>C (p.Met345Leu)	rs141482368	0.00007
NM_000466.3(PEX1):c.2465T>G (p.Leu822Arg)	rs545731416	0.00007
NM_000481.4(AMT):c.159G>A (p.Ala53=)	rs201080782	0.00007
NM_000481.4(AMT):c.713C>T (p.Ala238Val)	rs199985521	0.00007
NM_000489.6(ATRX):c.3913A>C (p.Lys1305Gln)	rs782708557	0.00007
NM_000489.6(ATRX):c.4130A>G (p.Glu1377Gly)	rs782553301	0.00007
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys)	rs142920240	0.00007
NM_000492.4(CFTR):c.571T>G (p.Phe191Val)	rs141482808	0.00007
NM_000498.3(CYP11B2):c.1041C>T (p.Ala347=)	rs369251345	0.00007
NM_000520.6(HEXA):c.855C>T (p.Gly285=)	rs768518776	0.00007
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)	rs146200173	0.00007
NM_000527.5(LDLR):c.2252G>A (p.Arg751Gln)	rs200142970	0.00007
NM_000528.4(MAN2B1):c.2437-5C>G	rs200695002	0.00007
NM_000543.5(SMPD1):c.1133G>A (p.Arg378His)	rs559088058	0.00007
NM_000642.3(AGL):c.2607A>G (p.Gln869=)	rs747817359	0.00007
NM_000642.3(AGL):c.4525C>T (p.Gln1509Ter)	rs1480850606	0.00007
NM_000642.3(AGL):c.609A>G (p.Lys203=)	rs186709388	0.00007
NM_000709.4(BCKDHA):c.1252G>A (p.Ala418Thr)	rs368567109	0.00007
NM_000784.4(CYP27A1):c.702C>T (p.Pro234=)	rs371636461	0.00007
NM_001017420.3(ESCO2):c.1132-7A>G	rs80359862	0.00007
NM_001042432.2(CLN3):c.1158C>T (p.Gly386=)	rs145340637	0.00007
NM_001042432.2(CLN3):c.291G>A (p.Thr97=)	rs367945307	0.00007
NM_001079802.2(FKTN):c.1212T>G (p.Phe404Leu)	rs776724595	0.00007
NM_001079866.2(BCS1L):c.201C>T (p.Leu67=)	rs142540289	0.00007
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His)	rs121908958	0.00007
NM_001142800.2(EYS):c.1107C>T (p.Ser369=)	rs755023434	0.00007
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr)	rs749909863	0.00007
NM_001142800.2(EYS):c.8233+9G>A	rs779154270	0.00007
NM_001164508.2(NEB):c.11034G>A (p.Pro3678=)	rs528974814	0.00007
NM_001164508.2(NEB):c.12279G>A (p.Pro4093=)	rs367638234	0.00007
NM_001164508.2(NEB):c.1285G>T (p.Asp429Tyr)	rs577939684	0.00007
NM_001164508.2(NEB):c.19732-8C>T	rs137934821	0.00007
NM_001164508.2(NEB):c.22004C>T (p.Thr7335Met)	rs767584361	0.00007
NM_001164508.2(NEB):c.2215A>G (p.Thr739Ala)	rs754959175	0.00007
NM_001164508.2(NEB):c.22349C>T (p.Thr7450Ile)	rs575499014	0.00007
NM_001164508.2(NEB):c.23763G>C (p.Leu7921Phe)	rs201028196	0.00007
NM_001164508.2(NEB):c.368G>A (p.Arg123His)	rs546250852	0.00007
NM_001164508.2(NEB):c.4103G>A (p.Arg1368His)	rs201984572	0.00007
NM_001164508.2(NEB):c.4978C>A (p.Pro1660Thr)	rs776231831	0.00007
NM_001164508.2(NEB):c.6097G>A (p.Glu2033Lys)	rs956309067	0.00007
NM_001164508.2(NEB):c.6482G>A (p.Arg2161His)	rs373778424	0.00007
NM_001283009.2(RTEL1):c.1395C>T (p.His465=)	rs376423914	0.00007
NM_001283009.2(RTEL1):c.2308G>A (p.Gly770Arg)	rs537754916	0.00007
NM_001283009.2(RTEL1):c.2428G>A (p.Gly810Arg)	rs545613984	0.00007
NM_001352514.2(HLCS):c.569C>T (p.Pro190Leu)	rs534858065	0.00007
NM_001360.3(DHCR7):c.855C>T (p.Phe285=)	rs781026169	0.00007
NM_001365088.1(SLC12A6):c.21C>T (p.Thr7=)	rs146902000	0.00007
NM_001369.3(DNAH5):c.10646A>G (p.Glu3549Gly)	rs758546967	0.00007
NM_001369.3(DNAH5):c.12217G>A (p.Val4073Met)	rs757109346	0.00007
NM_001369.3(DNAH5):c.13448C>T (p.Thr4483Met)	rs141828476	0.00007
NM_001369.3(DNAH5):c.13689G>C (p.Leu4563Phe)	rs374221053	0.00007
NM_001369.3(DNAH5):c.13746C>T (p.Tyr4582=)	rs369094478	0.00007
NM_001369.3(DNAH5):c.2717G>C (p.Ser906Thr)	rs540038644	0.00007
NM_001369.3(DNAH5):c.4331A>G (p.Asn1444Ser)	rs567013299	0.00007
NM_001369.3(DNAH5):c.4502C>T (p.Thr1501Ile)	rs368448770	0.00007
NM_001369.3(DNAH5):c.4562A>G (p.Glu1521Gly)	rs374248199	0.00007
NM_001369.3(DNAH5):c.477C>T (p.Gly159=)	rs897766386	0.00007
NM_001369.3(DNAH5):c.7752+3A>G	rs200385399	0.00007
NM_001369.3(DNAH5):c.8398G>A (p.Val2800Ile)	rs770453841	0.00007
NM_001378454.1(ALMS1):c.3974T>G (p.Val1325Gly)	rs868269804	0.00007
NM_001384474.1(LOXHD1):c.6071C>T (p.Thr2024Met)	rs369043488	0.00007
NM_002225.5(IVD):c.550+1G>A	rs377147994	0.00007
NM_002454.3(MTRR):c.21A>G (p.Leu7=)	rs114427781	0.00007
NM_003060.4(SLC22A5):c.1284T>A (p.Ala428=)	rs780429964	0.00007
NM_003060.4(SLC22A5):c.761G>A (p.Arg254Gln)	rs200699819	0.00007
NM_003640.5(ELP1):c.2769A>G (p.Thr923=)	rs370330097	0.00007
NM_004004.6(GJB2):c.24G>A (p.Thr8=)	rs533231493	0.00007
NM_004006.3(DMD):c.5675G>A (p.Cys1892Tyr)	rs137898199	0.00007
NM_004035.7(ACOX1):c.667G>A (p.Val223Ile)	rs143260706	0.00007
NM_004629.2(FANCG):c.1808C>T (p.Ser603Phe)	rs17878854	0.00007
NM_004646.4(NPHS1):c.1049C>T (p.Ser350Phe)	rs570069789	0.00007
NM_005476.7(GNE):c.737G>A (p.Arg246Gln)	rs121908629	0.00007
NM_005609.4(PYGM):c.1768+1G>A	rs771427957	0.00007
NM_005609.4(PYGM):c.2182A>G (p.Asn728Asp)	rs200058475	0.00007
NM_006019.4(TCIRG1):c.1278A>G (p.Arg426=)	rs138527421	0.00007
NM_006118.4(HAX1):c.160C>G (p.Pro54Ala)	rs139205111	0.00007
NM_012203.2(GRHPR):c.139C>T (p.Arg47Ter)	rs774654020	0.00007
NM_012203.2(GRHPR):c.626C>T (p.Ser209Phe)	rs375014308	0.00007
NM_012434.5(SLC17A5):c.1138_1139del (p.Val380fs)	rs386833988	0.00007
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu)	rs80338795	0.00007
NM_014244.5(ADAMTS2):c.2100C>T (p.Asp700=)	rs560354978	0.00007
NM_014244.5(ADAMTS2):c.260G>T (p.Arg87Leu)	rs150047440	0.00007
NM_014252.4(SLC25A15):c.255C>T (p.Tyr85=)	rs536354947	0.00007
NM_014363.6(SACS):c.10954C>A (p.Pro3652Thr)	rs201505036	0.00007
NM_014363.6(SACS):c.2487C>T (p.Asp829=)	rs151198216	0.00007
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln)	rs121918243	0.00007
NM_016277.5(RAB23):c.93A>G (p.Lys31=)	rs201735614	0.00007
NM_018006.5(TRMU):c.1164G>A (p.Pro388=)	rs202047181	0.00007
NM_020166.5(MCCC1):c.1773C>T (p.Ser591=)	rs200651846	0.00007
NM_020166.5(MCCC1):c.294C>T (p.Ile98=)	rs368288499	0.00007
NM_023036.6(DNAI2):c.1663A>G (p.Ile555Val)	rs146727740	0.00007
NM_024685.4(BBS10):c.440A>G (p.Gln147Arg)	rs140585012	0.00007
NM_032520.5(GNPTG):c.489C>T (p.Phe163=)	rs370857842	0.00007
NM_033380.3(COL4A5):c.3403A>G (p.Ile1135Val)	rs747614562	0.00007
NM_054012.4(ASS1):c.535T>C (p.Trp179Arg)	rs121908646	0.00007
NM_054012.4(ASS1):c.805G>A (p.Val269Met)	rs370595480	0.00007
NM_138413.4(HOGA1):c.569C>T (p.Pro190Leu)	rs202047589	0.00007
NM_138694.4(PKHD1):c.711A>T (p.Ser237=)	rs138184195	0.00007
NM_138694.4(PKHD1):c.8440+10G>C	rs376658460	0.00007
NM_152564.5(VPS13B):c.11144G>A (p.Arg3715Gln)	rs141566041	0.00007
NM_152564.5(VPS13B):c.6056A>G (p.Asn2019Ser)	rs534471615	0.00007
NM_172250.3(MMAA):c.1003A>T (p.Ile335Phe)	rs199749473	0.00007
NM_182760.4(SUMF1):c.463T>C (p.Ser155Pro)	rs137852850	0.00007
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg)	rs111033264	0.00007
NM_206933.4(USH2A):c.13217T>C (p.Leu4406Pro)	rs745693690	0.00007
NM_206933.4(USH2A):c.7227T>C (p.Thr2409=)	rs141917231	0.00007
NR_003051.3(RMRP):n.-22_-13dup10	rs1554651507	0.00007
NM_000016.6(ACADM):c.582C>T (p.Asn194=)	rs778535261	0.00006
NM_000018.4(ACADVL):c.1434G>A (p.Met478Ile)	rs775537775	0.00006
NM_000018.4(ACADVL):c.1679-6G>A	rs113994171	0.00006
NM_000018.4(ACADVL):c.947G>A (p.Arg316Gln)	rs147366714	0.00006
NM_000019.4(ACAT1):c.1221C>T (p.Tyr407=)	rs367713788	0.00006
NM_000019.4(ACAT1):c.455G>C (p.Gly152Ala)	rs762991875	0.00006
NM_000019.4(ACAT1):c.891G>A (p.Thr297=)	rs372169445	0.00006
NM_000022.4(ADA):c.375C>G (p.Thr125=)	rs766539394	0.00006
NM_000022.4(ADA):c.844C>T (p.Arg282Trp)	rs559798694	0.00006
NM_000033.4(ABCD1):c.100C>T (p.Pro34Ser)	rs375019683	0.00006
NM_000033.4(ABCD1):c.2087A>T (p.Lys696Met)	rs782157913	0.00006
NM_000046.5(ARSB):c.204C>A (p.Arg68=)	rs559187375	0.00006
NM_000048.4(ASL):c.1366C>T (p.Arg456Trp)	rs759396688	0.00006
NM_000049.4(ASPA):c.746A>T (p.Asp249Val)	rs104894552	0.00006
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly)	rs28904921	0.00006
NM_000053.4(ATP7B):c.1401T>G (p.Pro467=)	rs529527733	0.00006
NM_000053.4(ATP7B):c.2978C>T (p.Thr993Met)	rs200290721	0.00006
NM_000053.4(ATP7B):c.3646G>A (p.Val1216Met)	rs776280797	0.00006
NM_000053.4(ATP7B):c.4251A>G (p.Thr1417=)	rs546721020	0.00006
NM_000053.4(ATP7B):c.442C>T (p.Arg148Trp)	rs373762572	0.00006
NM_000053.4(ATP7B):c.496C>T (p.Arg166Trp)	rs755476114	0.00006
NM_000057.4(BLM):c.2898C>G (p.Leu966=)	rs201220226	0.00006
NM_000057.4(BLM):c.3062A>G (p.Asn1021Ser)	rs369629509	0.00006
NM_000070.3(CAPN3):c.1017G>A (p.Thr339=)	rs141934227	0.00006
NM_000070.3(CAPN3):c.1099G>A (p.Gly367Ser)	rs767106920	0.00006
NM_000070.3(CAPN3):c.1435A>G (p.Ser479Gly)	rs201736037	0.00006
NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln)	rs121434548	0.00006
NM_000070.3(CAPN3):c.1812C>T (p.Phe604=)	rs144383704	0.00006
NM_000070.3(CAPN3):c.329G>A (p.Arg110Gln)	rs188108732	0.00006
NM_000071.3(CBS):c.1161C>T (p.Ser387=)	rs149280976	0.00006
NM_000080.4(CHRNE):c.1104C>T (p.Pro368=)	rs767374241	0.00006
NM_000094.4(COL7A1):c.3158C>T (p.Ala1053Val)	rs574853557	0.00006
NM_000094.4(COL7A1):c.447C>T (p.Asp149=)	rs372585819	0.00006
NM_000094.4(COL7A1):c.4560T>A (p.Pro1520=)	rs142686837	0.00006
NM_000094.4(COL7A1):c.4666A>G (p.Lys1556Glu)	rs777472432	0.00006
NM_000094.4(COL7A1):c.4719A>G (p.Glu1573=)	rs558405095	0.00006
NM_000094.4(COL7A1):c.5368G>A (p.Ala1790Thr)	rs780506505	0.00006
NM_000094.4(COL7A1):c.5877C>T (p.Ile1959=)	rs779298653	0.00006
NM_000094.4(COL7A1):c.6005G>A (p.Arg2002His)	rs768326843	0.00006
NM_000094.4(COL7A1):c.6398T>C (p.Val2133Ala)	rs372838887	0.00006
NM_000098.3(CPT2):c.1737C>T (p.Tyr579=)	rs957344521	0.00006
NM_000098.3(CPT2):c.614A>G (p.Tyr205Cys)	rs779525393	0.00006
NM_000098.3(CPT2):c.692G>A (p.Arg231Gln)	rs369369333	0.00006
NM_000098.3(CPT2):c.877A>G (p.Ser293Gly)	rs145237292	0.00006
NM_000102.4(CYP17A1):c.286C>T (p.Arg96Trp)	rs104894138	0.00006
NM_000103.4(CYP19A1):c.501C>A (p.Ser167=)	rs35900050	0.00006
NM_000126.4(ETFA):c.442A>G (p.Ile148Val)	rs199673198	0.00006
NM_000128.4(F11):c.1200G>A (p.Pro400=)	rs150377265	0.00006
NM_000128.4(F11):c.1288G>A (p.Ala430Thr)	rs753909969	0.00006
NM_000135.4(FANCA):c.1756G>A (p.Ala586Thr)	rs201212806	0.00006
NM_000135.4(FANCA):c.1806G>A (p.Ala602=)	rs550064744	0.00006
NM_000135.4(FANCA):c.2080G>A (p.Asp694Asn)	rs201589909	0.00006
NM_000135.4(FANCA):c.3950G>A (p.Arg1317Gln)	rs376523966	0.00006
NM_000135.4(FANCA):c.3962G>A (p.Arg1321His)	rs374649848	0.00006
NM_000135.4(FANCA):c.4232C>T (p.Pro1411Leu)	rs201494304	0.00006
NM_000135.4(FANCA):c.4244T>G (p.Phe1415Cys)	rs201658945	0.00006
NM_000135.4(FANCA):c.4300G>A (p.Ala1434Thr)	rs374984587	0.00006
NM_000137.4(FAH):c.1009G>A (p.Gly337Ser)	rs80338900	0.00006
NM_000137.4(FAH):c.302A>G (p.Glu101Gly)	rs758347578	0.00006
NM_000137.4(FAH):c.782C>T (p.Pro261Leu)	rs80338898	0.00006
NM_000151.4(G6PC1):c.193G>T (p.Ala65Ser)	rs369472089	0.00006
NM_000151.4(G6PC1):c.446G>A (p.Arg149Gln)	rs181624619	0.00006
NM_000152.5(GAA):c.1124G>A (p.Arg375His)	rs142752477	0.00006
NM_000152.5(GAA):c.1356C>T (p.Ala452=)	rs757893858	0.00006
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu)	rs147327209	0.00006
NM_000152.5(GAA):c.266G>A (p.Arg89His)	rs200586324	0.00006
NM_000152.5(GAA):c.953T>C (p.Met318Thr)	rs121907936	0.00006
NM_000153.4(GALC):c.120C>T (p.Gly40=)	rs532800656	0.00006
NM_000153.4(GALC):c.136G>T (p.Asp46Tyr)	rs751975987	0.00006
NM_000153.4(GALC):c.1731C>T (p.Phe577=)	rs201560122	0.00006
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter)	rs137852888	0.00006
NM_000158.4(GBE1):c.2035C>T (p.Arg679Cys)	rs202158511	0.00006
NM_000158.4(GBE1):c.555+1G>T	rs759707498	0.00006
NM_000158.4(GBE1):c.785G>A (p.Arg262His)	rs369574719	0.00006
NM_000159.4(GCDH):c.1168G>C (p.Gly390Arg)	rs372983141	0.00006
NM_000170.3(GLDC):c.1940C>T (p.Pro647Leu)	rs201135624	0.00006
NM_000170.3(GLDC):c.2216G>A (p.Arg739His)	rs121964980	0.00006
NM_000170.3(GLDC):c.258C>T (p.Ser86=)	rs562000292	0.00006
NM_000170.3(GLDC):c.78G>C (p.Ser26=)	rs915226152	0.00006
NM_000199.5(SGSH):c.1302G>A (p.Ala434=)	rs376787615	0.00006
NM_000199.5(SGSH):c.432C>T (p.Ser144=)	rs200194908	0.00006
NM_000203.5(IDUA):c.1773G>A (p.Ala591=)	rs148894462	0.00006
NM_000203.5(IDUA):c.1800G>A (p.Ser600=)	rs763047621	0.00006
NM_000203.5(IDUA):c.981G>T (p.Ala327=)	rs372379342	0.00006
NM_000206.3(IL2RG):c.754A>G (p.Lys252Glu)	rs765748584	0.00006
NM_000243.3(MEFV):c.1759+7C>T	rs772667365	0.00006
NM_000243.3(MEFV):c.2337G>C (p.Gly779=)	rs104895153	0.00006
NM_000246.4(CIITA):c.2832G>A (p.Ser944=)	rs766538754	0.00006
NM_000246.4(CIITA):c.2979G>A (p.Ala993=)	rs142031278	0.00006
NM_000246.4(CIITA):c.3175G>A (p.Val1059Met)	rs200742204	0.00006
NM_000246.4(CIITA):c.384C>T (p.Ile128=)	rs140106499	0.00006
NM_000246.4(CIITA):c.772+5G>T	rs376221650	0.00006
NM_000252.3(MTM1):c.1455T>C (p.Ala485=)	rs141358705	0.00006
NM_000252.3(MTM1):c.1729G>A (p.Ala577Thr)	rs148195763	0.00006
NM_000255.4(MMUT):c.1924G>C (p.Gly642Arg)	rs747897332	0.00006
NM_000255.4(MMUT):c.947A>G (p.Tyr316Cys)	rs781474200	0.00006
NM_000260.4(MYO7A):c.4450C>T (p.Leu1484Phe)	rs200416912	0.00006
NM_000263.4(NAGLU):c.1272C>T (p.Asn424=)	rs200715586	0.00006
NM_000271.5(NPC1):c.2246-6C>T	rs757950161	0.00006
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg)	rs80358254	0.00006
NM_000277.3(PAH):c.222A>G (p.Lys74=)	rs374797155	0.00006
NM_000277.3(PAH):c.355C>T (p.Pro119Ser)	rs398123292	0.00006
NM_000277.3(PAH):c.438C>T (p.His146=)	rs191142120	0.00006
NM_000282.4(PCCA):c.229C>T (p.Arg77Trp)	rs141371306	0.00006
NM_000289.6(PFKM):c.237+1G>A	rs202143236	0.00006
NM_000303.3(PMM2):c.359T>C (p.Ile120Thr)	rs368582085	0.00006
NM_000303.3(PMM2):c.430T>C (p.Phe144Leu)	rs150719105	0.00006
NM_000310.4(PPT1):c.541G>A (p.Val181Met)	rs148412181	0.00006
NM_000317.3(PTS):c.132C>T (p.Asn44=)	rs763556416	0.00006
NM_000352.6(ABCC8):c.1958G>A (p.Arg653Gln)	rs146378237	0.00006
NM_000352.6(ABCC8):c.2222+12A>G	rs534103042	0.00006
NM_000352.6(ABCC8):c.4733G>A (p.Arg1578His)	rs143557848	0.00006
NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln)	rs185040406	0.00006
NM_000359.3(TGM1):c.1761C>T (p.Asp587=)	rs751201972	0.00006
NM_000359.3(TGM1):c.550C>T (p.Pro184Ser)	rs200517023	0.00006
NM_000360.4(TH):c.1228C>A (p.Arg410=)	rs575326605	0.00006
NM_000360.4(TH):c.1402G>A (p.Val468Met)	rs1800033	0.00006
NM_000382.3(ALDH3A2):c.529C>T (p.Arg177Ter)	rs72547561	0.00006
NM_000383.4(AIRE):c.1169C>T (p.Thr390Met)	rs201491251	0.00006
NM_000383.4(AIRE):c.798+1G>A	rs138489664	0.00006
NM_000391.4(TPP1):c.889C>T (p.Arg297Trp)	rs553122824	0.00006
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His)	rs111033305	0.00006
NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg)	rs111033316	0.00006
NM_000466.3(PEX1):c.2842C>T (p.Arg948Trp)	rs374167385	0.00006
NM_000466.3(PEX1):c.674T>A (p.Ile225Asn)	rs372485912	0.00006
NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser)	rs121918014	0.00006
NM_000478.6(ALPL):c.1446C>T (p.His482=)	rs747980975	0.00006
NM_000478.6(ALPL):c.575T>C (p.Met192Thr)	rs765011829	0.00006
NM_000481.4(AMT):c.230C>T (p.Ser77Leu)	rs386833680	0.00006
NM_000487.6(ARSA):c.1010A>T (p.Asp337Val)	rs74315475	0.00006
NM_000489.6(ATRX):c.1033G>A (p.Ala345Thr)	rs149249195	0.00006
NM_000489.6(ATRX):c.1245C>T (p.Ser415=)	rs141815992	0.00006
NM_000489.6(ATRX):c.2105A>G (p.Asn702Ser)	rs782409603	0.00006
NM_000489.6(ATRX):c.2312C>T (p.Ala771Val)	rs376906761	0.00006
NM_000489.6(ATRX):c.2313G>A (p.Ala771=)	rs373458498	0.00006
NM_000492.4(CFTR):c.1519A>G (p.Ile507Val)	rs1801178	0.00006
NM_000492.4(CFTR):c.3289C>T (p.Arg1097Cys)	rs201591901	0.00006
NM_000492.4(CFTR):c.3429G>A (p.Leu1143=)	rs375845215	0.00006
NM_000492.4(CFTR):c.3908A>T (p.Asn1303Ile)	rs397508636	0.00006
NM_000492.4(CFTR):c.4296C>T (p.Asn1432=)	rs761669740	0.00006
NM_000498.3(CYP11B2):c.1215T>G (p.Val405=)	rs745762132	0.00006
NM_000498.3(CYP11B2):c.1240G>C (p.Ala414Pro)	rs755139614	0.00006
NM_000518.5(HBB):c.75T>A (p.Gly25=)	rs33951465	0.00006
NM_000520.6(HEXA):c.806-7G>A	rs770932296	0.00006
NM_000527.5(LDLR):c.1026C>G (p.Asp342Glu)	rs780563386	0.00006
NM_000527.5(LDLR):c.1837G>A (p.Val613Ile)	rs148181903	0.00006
NM_000527.5(LDLR):c.2098G>A (p.Asp700Asn)	rs375009082	0.00006
NM_000527.5(LDLR):c.2320G>A (p.Asp774Asn)	rs138190838	0.00006
NM_000527.5(LDLR):c.313C>T (p.Pro105Ser)	rs13306510	0.00006
NM_000527.5(LDLR):c.979C>T (p.His327Tyr)	rs747507019	0.00006
NM_000528.4(MAN2B1):c.2047-4G>A	rs768347546	0.00006
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro)	rs80338681	0.00006
NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp)	rs121964959	0.00006
NM_000543.5(SMPD1):c.1632C>T (p.Thr544=)	rs201659696	0.00006
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter)	rs267606640	0.00006
NM_000642.3(AGL):c.4260-12A>G	rs369973784	0.00006
NM_000784.4(CYP27A1):c.712G>A (p.Val238Met)	rs199691576	0.00006
NM_001126108.2(SLC12A3):c.1145C>T (p.Thr382Met)	rs187885782	0.00006
NM_001126108.2(SLC12A3):c.1390G>A (p.Ala464Thr)	rs201945662	0.00006
NM_001126108.2(SLC12A3):c.2793C>T (p.Asn931=)	rs13306666	0.00006
NM_001126108.2(SLC12A3):c.2863C>T (p.Arg955Trp)	rs559626481	0.00006
NM_001142800.2(EYS):c.-209C>T	rs1004023794	0.00006
NM_001142800.2(EYS):c.1461A>T (p.Gly487=)	rs376870255	0.00006
NM_001142800.2(EYS):c.2620C>T (p.Gln874Ter)	rs760798455	0.00006
NM_001142800.2(EYS):c.9392G>C (p.Gly3131Ala)	rs772888249	0.00006
NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter)	rs137853190	0.00006
NM_001164277.2(SLC37A4):c.611C>T (p.Ser204Phe)	rs567419206	0.00006
NM_001164507.2(NEB):c.21341G>A (p.Arg7114Gln)	rs372284984	0.00006
NM_001164508.2(NEB):c.11116A>G (p.Ile3706Val)	rs199551865	0.00006
NM_001164508.2(NEB):c.11717G>A (p.Arg3906His)	rs556930902	0.00006
NM_001164508.2(NEB):c.17118C>T (p.Asp5706=)	rs769476760	0.00006
NM_001164508.2(NEB):c.17628C>T (p.Leu5876=)	rs377183242	0.00006
NM_001164508.2(NEB):c.18746A>G (p.Asn6249Ser)	rs550191566	0.00006
NM_001164508.2(NEB):c.19139A>G (p.Lys6380Arg)	rs757621444	0.00006
NM_001164508.2(NEB):c.19477G>A (p.Val6493Met)	rs1233717326	0.00006
NM_001164508.2(NEB):c.19576G>A (p.Asp6526Asn)	rs201731351	0.00006
NM_001164508.2(NEB):c.19674C>T (p.Tyr6558=)	rs201515651	0.00006
NM_001164508.2(NEB):c.20228G>A (p.Arg6743His)	rs755370356	0.00006
NM_001164508.2(NEB):c.21268C>G (p.Pro7090Ala)	rs371704528	0.00006
NM_001164508.2(NEB):c.21337A>G (p.Met7113Val)	rs750039342	0.00006
NM_001164508.2(NEB):c.22187A>G (p.Lys7396Arg)	rs201548700	0.00006
NM_001164508.2(NEB):c.22832G>A (p.Arg7611Gln)	rs766072117	0.00006
NM_001164508.2(NEB):c.23048T>C (p.Ile7683Thr)	rs374941096	0.00006
NM_001164508.2(NEB):c.23051G>A (p.Arg7684His)	rs372699411	0.00006
NM_001164508.2(NEB):c.24171G>T (p.Met8057Ile)	rs758996758	0.00006
NM_001164508.2(NEB):c.25368G>A (p.Thr8456=)	rs200083849	0.00006
NM_001164508.2(NEB):c.3520G>A (p.Ala1174Thr)	rs756135837	0.00006
NM_001164508.2(NEB):c.5410G>A (p.Ala1804Thr)	rs369275207	0.00006
NM_001164508.2(NEB):c.6119A>G (p.Tyr2040Cys)	rs756926807	0.00006
NM_001164508.2(NEB):c.7441A>G (p.Arg2481Gly)	rs149430473	0.00006
NM_001164508.2(NEB):c.8063A>G (p.His2688Arg)	rs201119402	0.00006
NM_001164508.2(NEB):c.9055G>A (p.Ala3019Thr)	rs370738668	0.00006
NM_001164508.2(NEB):c.9468T>C (p.Ile3156=)	rs751747575	0.00006
NM_001173990.3(TMEM216):c.420T>C (p.Ala140=)	rs749351351	0.00006
NM_001360.3(DHCR7):c.1011C>T (p.Ala337=)	rs369382960	0.00006
NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala)	rs200334114	0.00006
NM_001369.3(DNAH5):c.11300G>A (p.Arg3767His)	rs138838869	0.00006
NM_001369.3(DNAH5):c.13155A>T (p.Pro4385=)	rs202103048	0.00006
NM_001369.3(DNAH5):c.13486C>T (p.Arg4496Ter)	rs200901816	0.00006
NM_001369.3(DNAH5):c.1436G>A (p.Arg479His)	rs150601733	0.00006
NM_001369.3(DNAH5):c.1638C>A (p.Asp546Glu)	rs375037194	0.00006
NM_001369.3(DNAH5):c.2708A>C (p.Asn903Thr)	rs749503841	0.00006
NM_001369.3(DNAH5):c.2861A>C (p.Glu954Ala)	rs753696648	0.00006
NM_001369.3(DNAH5):c.3379A>G (p.Ile1127Val)	rs763824667	0.00006
NM_001369.3(DNAH5):c.3895G>T (p.Val1299Phe)	rs767853104	0.00006
NM_001369.3(DNAH5):c.632C>T (p.Ser211Leu)	rs139857637	0.00006
NM_001369.3(DNAH5):c.660+9G>A	rs762915801	0.00006
NM_001369.3(DNAH5):c.6747C>T (p.Phe2249=)	rs568499996	0.00006
NM_001369.3(DNAH5):c.7741A>G (p.Lys2581Glu)	rs142302585	0.00006
NM_001370658.1(BTD):c.566G>A (p.Arg189His)	rs398123139	0.00006
NM_001378454.1(ALMS1):c.12103G>A (p.Ala4035Thr)	rs757364858	0.00006
NM_001378454.1(ALMS1):c.12198G>A (p.Arg4066=)	rs199603690	0.00006
NM_001384474.1(LOXHD1):c.3061+1G>A	rs537227442	0.00006
NM_001384474.1(LOXHD1):c.3936C>G (p.Leu1312=)	rs533251927	0.00006
NM_001384474.1(LOXHD1):c.6252C>T (p.His2084=)	rs753440039	0.00006
NM_001384474.1(LOXHD1):c.6539G>A (p.Gly2180Glu)	rs763915229	0.00006
NM_001875.5(CPS1):c.1478C>T (p.Thr493Ile)	rs199878637	0.00006
NM_001875.5(CPS1):c.1627G>A (p.Ala543Thr)	rs142369181	0.00006
NM_001876.4(CPT1A):c.1083G>A (p.Gln361=)	rs761229343	0.00006
NM_002435.3(MPI):c.1269G>A (p.Leu423=)	rs371664469	0.00006
NM_002485.5(NBN):c.127C>T (p.Arg43Ter)	rs200287925	0.00006
NM_002529.4(NTRK1):c.2113A>T (p.Thr705Ser)	rs200935209	0.00006
NM_002529.4(NTRK1):c.2231G>A (p.Arg744His)	rs751281792	0.00006
NM_002529.4(NTRK1):c.470G>A (p.Arg157His)	rs141021604	0.00006
NM_003060.4(SLC22A5):c.1193C>T (p.Pro398Leu)	rs144547521	0.00006
NM_003060.4(SLC22A5):c.248G>T (p.Arg83Leu)	rs72552726	0.00006
NM_003982.4(SLC7A7):c.1417C>T (p.Arg473Ter)	rs386833808	0.00006
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro)	rs370644567	0.00006
NM_004646.4(NPHS1):c.1868G>T (p.Cys623Phe)	rs386833895	0.00006
NM_005373.3(MPL):c.304C>T (p.Arg102Cys)	rs763568293	0.00006
NM_005609.4(PYGM):c.2056G>A (p.Gly686Arg)	rs144081869	0.00006
NM_006019.4(TCIRG1):c.1331G>T (p.Arg444Leu)	rs137853151	0.00006
NM_006096.4(NDRG1):c.270C>T (p.Ala90=)	rs200328537	0.00006
NM_006623.4(PHGDH):c.1468G>A (p.Val490Met)	rs121907987	0.00006
NM_006623.4(PHGDH):c.519G>A (p.Gly173=)	rs754326499	0.00006
NM_012144.4(DNAI1):c.1371C>T (p.Asp457=)	rs113249236	0.00006
NM_012144.4(DNAI1):c.1417A>G (p.Ile473Val)	rs199774301	0.00006
NM_012203.2(GRHPR):c.734+1G>A	rs148049120	0.00006
NM_012434.5(SLC17A5):c.533del (p.Thr178fs)	rs727504156	0.00006
NM_013339.4(ALG6):c.1314T>C (p.Ile438=)	rs146939069	0.00006
NM_013339.4(ALG6):c.338G>A (p.Arg113His)	rs768372697	0.00006
NM_014140.4(SMARCAL1):c.836T>C (p.Phe279Ser)	rs775057827	0.00006
NM_014140.4(SMARCAL1):c.927C>T (p.Ser309=)	rs139949668	0.00006
NM_014244.5(ADAMTS2):c.2866G>A (p.Ala956Thr)	rs375191740	0.00006
NM_014252.4(SLC25A15):c.823C>T (p.Arg275Ter)	rs202247807	0.00006
NM_014297.5(ETHE1):c.375+7T>C	rs752466453	0.00006
NM_014297.5(ETHE1):c.9G>A (p.Glu3=)	rs773937760	0.00006
NM_014363.6(SACS):c.12216T>A (p.Thr4072=)	rs574182225	0.00006
NM_014363.6(SACS):c.6634A>G (p.Thr2212Ala)	rs556248979	0.00006
NM_014844.5(TECPR2):c.2514G>C (p.Pro838=)	rs140913653	0.00006
NM_014844.5(TECPR2):c.3477G>A (p.Arg1159=)	rs2295975	0.00006
NM_014844.5(TECPR2):c.3999C>T (p.Leu1333=)	rs556751486	0.00006
NM_015166.4(MLC1):c.274C>T (p.Pro92Ser)	rs121908345	0.00006
NM_015166.4(MLC1):c.715-5C>A	rs751850836	0.00006
NM_015506.3(MMACHC):c.458G>A (p.Arg153Gln)	rs200276195	0.00006
NM_015506.3(MMACHC):c.688C>T (p.Arg230Ter)	rs201183360	0.00006
NM_015702.3(MMADHC):c.515A>C (p.Lys172Thr)	rs147318949	0.00006
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg)	rs119103212	0.00006
NM_020320.5(RARS2):c.35A>G (p.Gln12Arg)	rs147391618	0.00006
NM_020533.3(MCOLN1):c.1038G>A (p.Glu346=)	rs535704197	0.00006
NM_020533.3(MCOLN1):c.783G>A (p.Thr261=)	rs200484869	0.00006
NM_023036.6(DNAI2):c.396G>A (p.Glu132=)	rs777369529	0.00006
NM_024996.7(GFM1):c.2011C>T (p.Arg671Cys)	rs201408725	0.00006
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)	rs104886142	0.00006
NM_052845.4(MMAB):c.150G>A (p.Ser50=)	rs754357121	0.00006
NM_052845.4(MMAB):c.521C>T (p.Ser174Leu)	rs140881518	0.00006
NM_054012.4(ASS1):c.174+10G>A	rs371597908	0.00006
NM_130849.4(SLC39A4):c.1323T>C (p.His441=)	rs143819461	0.00006
NM_130849.4(SLC39A4):c.213C>T (p.Ala71=)	rs577104686	0.00006
NM_138413.4(HOGA1):c.828C>T (p.Asn276=)	rs201683794	0.00006
NM_138413.4(HOGA1):c.834G>A (p.Ala278=)	rs770050262	0.00006
NM_138413.4(HOGA1):c.908G>A (p.Arg303His)	rs761150081	0.00006
NM_138694.4(PKHD1):c.12106C>T (p.Arg4036Trp)	rs201210830	0.00006
NM_138694.4(PKHD1):c.1816C>T (p.Arg606Trp)	rs560133266	0.00006
NM_138694.4(PKHD1):c.208C>A (p.Pro70Thr)	rs781485593	0.00006
NM_138694.4(PKHD1):c.2703C>T (p.Asn901=)	rs199768081	0.00006
NM_138694.4(PKHD1):c.3628+9C>A	rs552339299	0.00006
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)	rs200391019	0.00006
NM_138694.4(PKHD1):c.5112C>T (p.Cys1704=)	rs202010726	0.00006
NM_138694.4(PKHD1):c.5772C>T (p.Phe1924=)	rs141473212	0.00006
NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp)	rs180675584	0.00006
NM_138694.4(PKHD1):c.7977G>A (p.Pro2659=)	rs748084543	0.00006
NM_138694.4(PKHD1):c.8319G>A (p.Val2773=)	rs374869252	0.00006
NM_138694.4(PKHD1):c.8335T>G (p.Phe2779Val)	rs144106341	0.00006
NM_138694.4(PKHD1):c.9629C>G (p.Ser3210Cys)	rs141081295	0.00006
NM_152564.5(VPS13B):c.11216-6T>C	rs780721865	0.00006
NM_152564.5(VPS13B):c.6727G>T (p.Glu2243Ter)	rs146960401	0.00006
NM_152564.5(VPS13B):c.8010C>T (p.Ala2670=)	rs376062743	0.00006
NM_153006.3(NAGS):c.1552G>A (p.Ala518Thr)	rs745511282	0.00006
NM_153676.4(USH1C):c.308G>A (p.Arg103His)	rs397514500	0.00006
NM_182760.4(SUMF1):c.237C>G (p.Pro79=)	rs11555132	0.00006
NM_206933.4(USH2A):c.1036A>C (p.Asn346His)	rs369522997	0.00006
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His)	rs527236139	0.00006
NM_206933.4(USH2A):c.12597T>C (p.Ala4199=)	rs202172029	0.00006
NM_206933.4(USH2A):c.15496A>G (p.Ile5166Val)	rs111033419	0.00006
NM_206933.4(USH2A):c.7595-2144A>G	rs786200928	0.00006
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr)	rs121912599	0.00006
NM_000018.4(ACADVL):c.760G>A (p.Gly254Ser)	rs765423779	0.00005
NM_000018.4(ACADVL):c.779C>T (p.Thr260Met)	rs113994168	0.00005
NM_000022.4(ADA):c.872C>T (p.Ser291Leu)	rs121908721	0.00005
NM_000023.4(SGCA):c.614C>A (p.Pro205His)	rs757481230	0.00005
NM_000030.3(AGXT):c.697C>T (p.Arg233Cys)	rs121908526	0.00005
NM_000030.3(AGXT):c.698G>A (p.Arg233His)	rs121908527	0.00005
NM_000035.4(ALDOB):c.849C>T (p.Asn283=)	rs202062631	0.00005
NM_000046.5(ARSB):c.729G>A (p.Glu243=)	rs144029271	0.00005
NM_000046.5(ARSB):c.937C>G (p.Pro313Ala)	rs749989641	0.00005
NM_000048.4(ASL):c.75C>T (p.Asn25=)	rs370260834	0.00005
NM_000049.4(ASPA):c.840C>T (p.Pro280=)	rs148081446	0.00005
NM_000051.4(ATM):c.4109+6T>C	rs368606937	0.00005
NM_000051.4(ATM):c.4910A>G (p.Asp1637Gly)	rs763457172	0.00005
NM_000051.4(ATM):c.7913G>A (p.Trp2638Ter)	rs377349459	0.00005
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)	rs587782652	0.00005
NM_000053.4(ATP7B):c.1285+5G>T	rs370579582	0.00005
NM_000053.4(ATP7B):c.2128G>A (p.Gly710Ser)	rs137853285	0.00005
NM_000053.4(ATP7B):c.2310C>G (p.Leu770=)	rs398123136	0.00005
NM_000053.4(ATP7B):c.2604C>T (p.Pro868=)	rs368902724	0.00005
NM_000053.4(ATP7B):c.2906G>A (p.Arg969Gln)	rs121907996	0.00005
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg)	rs121907992	0.00005
NM_000057.4(BLM):c.3558+1G>T	rs148969222	0.00005
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met)	rs200646556	0.00005
NM_000070.3(CAPN3):c.2093G>A (p.Arg698His)	rs190793093	0.00005
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly)	rs200379491	0.00005
NM_000070.3(CAPN3):c.245C>T (p.Pro82Leu)	rs886042478	0.00005
NM_000070.3(CAPN3):c.640G>A (p.Gly214Ser)	rs369784333	0.00005
NM_000071.3(CBS):c.341C>T (p.Ala114Val)	rs121964964	0.00005
NM_000094.4(COL7A1):c.1324C>T (p.Arg442Cys)	rs142108058	0.00005
NM_000094.4(COL7A1):c.1428G>A (p.Pro476=)	rs138330564	0.00005
NM_000094.4(COL7A1):c.3837G>A (p.Arg1279=)	rs146903823	0.00005
NM_000094.4(COL7A1):c.4012-9C>T	rs763087515	0.00005
NM_000094.4(COL7A1):c.6473G>A (p.Arg2158His)	rs138626345	0.00005
NM_000098.3(CPT2):c.1335C>T (p.Cys445=)	rs143075786	0.00005
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys)	rs121964992	0.00005
NM_000112.4(SLC26A2):c.700-1G>C	rs200963884	0.00005
NM_000128.4(F11):c.56-6T>C	rs374122923	0.00005
NM_000135.4(FANCA):c.1007-7C>G	rs111271660	0.00005
NM_000135.4(FANCA):c.2T>C (p.Met1Thr)	rs769479800	0.00005
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly)	rs149277003	0.00005
NM_000135.4(FANCA):c.4325C>G (p.Ala1442Gly)	rs144171225	0.00005
NM_000135.4(FANCA):c.527C>T (p.Ser176Phe)	rs35566151	0.00005
NM_000135.4(FANCA):c.851G>C (p.Gly284Ala)	rs762079136	0.00005
NM_000136.3(FANCC):c.1560C>T (p.His520=)	rs150020474	0.00005
NM_000143.4(FH):c.1127A>C (p.Gln376Pro)	rs200796606	0.00005
NM_000151.4(G6PC1):c.113A>T (p.Asp38Val)	rs104894565	0.00005
NM_000151.4(G6PC1):c.189G>A (p.Trp63Ter)	rs764920787	0.00005
NM_000151.4(G6PC1):c.615C>T (p.Ser205=)	rs374522795	0.00005
NM_000152.5(GAA):c.1828G>A (p.Ala610Thr)	rs144731405	0.00005
NM_000152.5(GAA):c.2418G>A (p.Thr806=)	rs371528938	0.00005
NM_000152.5(GAA):c.2456G>A (p.Arg819Gln)	rs374687883	0.00005
NM_000152.5(GAA):c.655G>A (p.Gly219Arg)	rs370950728	0.00005
NM_000154.2(GALK1):c.935G>A (p.Arg312His)	rs181526665	0.00005
NM_000156.6(GAMT):c.59G>C (p.Trp20Ser)	rs80338734	0.00005
NM_000158.4(GBE1):c.1392C>T (p.Leu464=)	rs563241317	0.00005
NM_000158.4(GBE1):c.1406A>G (p.Tyr469Cys)	rs760661724	0.00005
NM_000159.4(GCDH):c.1092C>T (p.Pro364=)	rs146363703	0.00005
NM_000159.4(GCDH):c.881G>A (p.Arg294Gln)	rs775606471	0.00005
NM_000170.3(GLDC):c.1791G>C (p.Glu597Asp)	rs141875337	0.00005
NM_000170.3(GLDC):c.250C>T (p.Leu84=)	rs746606221	0.00005
NM_000170.3(GLDC):c.576C>G (p.Ala192=)	rs768514155	0.00005
NM_000170.3(GLDC):c.632A>G (p.Tyr211Cys)	rs139931025	0.00005
NM_000182.5(HADHA):c.180+3A>G	rs781222705	0.00005
NM_000198.4(HSD3B2):c.13T>A (p.Cys5Ser)	rs376207606	0.00005
NM_000198.4(HSD3B2):c.244G>A (p.Ala82Thr)	rs757033996	0.00005
NM_000199.5(SGSH):c.163C>T (p.Arg55Cys)	rs368650877	0.00005
NM_000199.5(SGSH):c.703G>A (p.Asp235Asn)	rs753472891	0.00005
NM_000202.8(IDS):c.23G>T (p.Arg8Leu)	rs782621858	0.00005
NM_000202.8(IDS):c.450G>A (p.Pro150=)	rs201892132	0.00005
NM_000203.5(IDUA):c.1046A>G (p.Asp349Gly)	rs371397270	0.00005
NM_000206.3(IL2RG):c.1105A>G (p.Thr369Ala)	rs374270413	0.00005
NM_000206.3(IL2RG):c.332T>C (p.Ile111Thr)	rs778229878	0.00005
NM_000206.3(IL2RG):c.786C>T (p.Ala262=)	rs374370835	0.00005
NM_000243.3(MEFV):c.1061G>A (p.Arg354Gln)	rs763015849	0.00005
NM_000243.3(MEFV):c.1179C>T (p.Pro393=)	rs104895082	0.00005
NM_000243.3(MEFV):c.1527C>T (p.Leu509=)	rs571832030	0.00005
NM_000252.3(MTM1):c.1793A>G (p.His598Arg)	rs201373390	0.00005
NM_000252.3(MTM1):c.230C>T (p.Thr77Met)	rs782640338	0.00005
NM_000252.3(MTM1):c.620G>A (p.Arg207His)	rs187357952	0.00005
NM_000260.4(MYO7A):c.3862G>C (p.Ala1288Pro)	rs749747871	0.00005
NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln)	rs104894598	0.00005
NM_000271.5(NPC1):c.1479C>T (p.Ser493=)	rs148078801	0.00005
NM_000271.5(NPC1):c.2903A>G (p.Asn968Ser)	rs773767253	0.00005
NM_000271.5(NPC1):c.956-10G>A	rs755660832	0.00005
NM_000274.4(OAT):c.1250C>T (p.Pro417Leu)	rs121965044	0.00005
NM_000277.3(PAH):c.1238G>A (p.Arg413His)	rs79931499	0.00005
NM_000284.4(PDHA1):c.693G>A (p.Thr231=)	rs138237215	0.00005
NM_000303.3(PMM2):c.323C>T (p.Ala108Val)	rs200503569	0.00005
NM_000303.3(PMM2):c.691G>A (p.Val231Met)	rs80338707	0.00005
NM_000303.3(PMM2):c.738C>G (p.Ser246=)	rs373888957	0.00005
NM_000303.3(PMM2):c.91T>C (p.Phe31Leu)	rs749720760	0.00005
NM_000310.4(PPT1):c.413C>T (p.Ser138Leu)	rs386833646	0.00005
NM_000349.3(STAR):c.563G>A (p.Arg188His)	rs61736315	0.00005
NM_000352.6(ABCC8):c.2209G>A (p.Val737Ile)	rs376206979	0.00005
NM_000352.6(ABCC8):c.2391-6C>T	rs556416038	0.00005
NM_000352.6(ABCC8):c.3393C>T (p.Ile1131=)	rs776975807	0.00005
NM_000352.6(ABCC8):c.3462C>T (p.Ala1154=)	rs540122589	0.00005
NM_000383.4(AIRE):c.156G>A (p.Lys52=)	rs144396624	0.00005
NM_000383.4(AIRE):c.351C>T (p.Ala117=)	rs201929488	0.00005
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr)	rs119455954	0.00005
NM_000397.4(CYBB):c.948G>T (p.Gly316=)	rs139761069	0.00005
NM_000404.4(GLB1):c.464T>G (p.Leu155Arg)	rs376710410	0.00005
NM_000404.4(GLB1):c.602G>A (p.Arg201His)	rs189115557	0.00005
NM_000414.4(HSD17B4):c.280+2T>C	rs770772281	0.00005
NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg)	rs756969021	0.00005
NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile)	rs397516421	0.00005
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)	rs111033256	0.00005
NM_000466.3(PEX1):c.1284C>T (p.Ala428=)	rs145153467	0.00005
NM_000466.3(PEX1):c.1441G>A (p.Val481Ile)	rs139919229	0.00005
NM_000466.3(PEX1):c.147G>A (p.Val49=)	rs202230667	0.00005
NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter)	rs61750418	0.00005
NM_000478.6(ALPL):c.1363G>A (p.Gly455Ser)	rs149889416	0.00005
NM_000478.6(ALPL):c.1419C>T (p.Gly473=)	rs373417343	0.00005
NM_000478.6(ALPL):c.648C>T (p.Asp216=)	rs201739155	0.00005
NM_000481.4(AMT):c.283G>A (p.Val95Met)	rs183396486	0.00005
NM_000481.4(AMT):c.583G>A (p.Val195Met)	rs372496075	0.00005
NM_000486.6(AQP2):c.559C>T (p.Arg187Cys)	rs104894328	0.00005
NM_000489.6(ATRX):c.1169G>A (p.Arg390His)	rs367986587	0.00005
NM_000489.6(ATRX):c.118A>G (p.Met40Val)	rs149990714	0.00005
NM_000489.6(ATRX):c.1645A>G (p.Ser549Gly)	rs148513102	0.00005
NM_000489.6(ATRX):c.2133T>G (p.Pro711=)	rs782781621	0.00005
NM_000489.6(ATRX):c.2652G>C (p.Glu884Asp)	rs782123222	0.00005
NM_000489.6(ATRX):c.2683G>C (p.Val895Leu)	rs782529714	0.00005
NM_000489.6(ATRX):c.2697G>A (p.Thr899=)	rs137974888	0.00005
NM_000489.6(ATRX):c.2701A>G (p.Ile901Val)	rs587778087	0.00005
NM_000489.6(ATRX):c.3622A>G (p.Ile1208Val)	rs782257568	0.00005
NM_000489.6(ATRX):c.3978A>G (p.Ser1326=)	rs369658928	0.00005
NM_000489.6(ATRX):c.5957-9C>G	rs375791318	0.00005
NM_000492.4(CFTR):c.2042A>T (p.Glu681Val)	rs201295415	0.00005
NM_000492.4(CFTR):c.3874-4522A>G	rs895394181	0.00005
NM_000498.3(CYP11B2):c.1398+1G>A	rs539836429	0.00005
NM_000498.3(CYP11B2):c.596-4G>A	rs370388708	0.00005
NM_000498.3(CYP11B2):c.737G>A (p.Arg246His)	rs369953763	0.00005
NM_000520.6(HEXA):c.460-1G>T	rs764343937	0.00005
NM_000520.6(HEXA):c.533G>A (p.Arg178His)	rs28941770	0.00005
NM_000521.4(HEXB):c.1572C>T (p.Asp524=)	rs770560389	0.00005
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser)	rs544453230	0.00005
NM_000527.5(LDLR):c.1057G>A (p.Glu353Lys)	rs370471092	0.00005
NM_000527.5(LDLR):c.1080T>G (p.Asp360Glu)	rs749322464	0.00005
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met)	rs138477254	0.00005
NM_000527.5(LDLR):c.2575G>A (p.Val859Met)	rs202049029	0.00005
NM_000527.5(LDLR):c.861C>T (p.Gly287=)	rs770191650	0.00005
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn)	rs121908030	0.00005
NM_000527.5(LDLR):c.940G>A (p.Gly314Arg)	rs72658858	0.00005
NM_000528.4(MAN2B1):c.1893G>T (p.Gln631His)	rs775247526	0.00005
NM_000528.4(MAN2B1):c.2046+2T>A	rs748712495	0.00005
NM_000528.4(MAN2B1):c.2782G>C (p.Gly928Arg)	rs754733253	0.00005
NM_000531.6(OTC):c.118C>T (p.Arg40Cys)	rs72554307	0.00005
NM_000532.5(PCCB):c.1127G>A (p.Arg376His)	rs142982097	0.00005
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys)	rs121964961	0.00005
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu)	rs374722096	0.00005
NM_000536.4(RAG2):c.1074G>A (p.Glu358=)	rs557047531	0.00005
NM_000536.4(RAG2):c.63G>A (p.Leu21=)	rs142797325	0.00005
NM_000543.5(SMPD1):c.1426C>T (p.Arg476Trp)	rs182812968	0.00005
NM_000642.3(AGL):c.241T>C (p.Cys81Arg)	rs201584227	0.00005
NM_000642.3(AGL):c.261A>G (p.Gln87=)	rs370304606	0.00005
NM_000709.4(BCKDHA):c.174G>A (p.Ser58=)	rs576803251	0.00005
NM_000709.4(BCKDHA):c.891C>T (p.Arg297=)	rs187669174	0.00005
NM_001003722.2(GLE1):c.1964+7G>A	rs200856711	0.00005
NM_001017420.3(ESCO2):c.742A>G (p.Thr248Ala)	rs750159862	0.00005
NM_001079866.2(BCS1L):c.871C>T (p.Arg291Ter)	rs201454788	0.00005
NM_001126108.2(SLC12A3):c.2191G>A (p.Gly731Arg)	rs752101663	0.00005
NM_001126108.2(SLC12A3):c.2938G>A (p.Gly980Arg)	rs34803727	0.00005
NM_001126108.2(SLC12A3):c.434G>A (p.Arg145His)	rs374324018	0.00005
NM_001126108.2(SLC12A3):c.482G>A (p.Trp161Ter)	rs201190064	0.00005
NM_001130987.2(DYSF):c.853C>T (p.Arg285Trp)	rs149827237	0.00005
NM_001142800.2(EYS):c.1765A>G (p.Arg589Gly)	rs778030177	0.00005
NM_001142800.2(EYS):c.33G>C (p.Leu11=)	rs777361054	0.00005
NM_001142800.2(EYS):c.6571+5G>A	rs991580368	0.00005
NM_001142800.2(EYS):c.8107G>T (p.Glu2703Ter)	rs184722374	0.00005
NM_001142800.2(EYS):c.881C>G (p.Ser294Ter)	rs752683070	0.00005
NM_001164277.2(SLC37A4):c.80A>G (p.Asn27Ser)	rs782308530	0.00005
NM_001164507.2(NEB):c.21340C>T (p.Arg7114Trp)	rs186686151	0.00005
NM_001164508.2(NEB):c.10589A>T (p.Gln3530Leu)	rs573693040	0.00005
NM_001164508.2(NEB):c.10988G>A (p.Arg3663His)	rs550715282	0.00005
NM_001164508.2(NEB):c.11182-8T>A	rs183088493	0.00005
NM_001164508.2(NEB):c.1675-4C>G	rs369915027	0.00005
NM_001164508.2(NEB):c.17024G>A (p.Arg5675His)	rs373850451	0.00005
NM_001164508.2(NEB):c.17900C>T (p.Thr5967Met)	rs778982089	0.00005
NM_001164508.2(NEB):c.19899C>T (p.Thr6633=)	rs370742146	0.00005
NM_001164508.2(NEB):c.19993C>T (p.Pro6665Ser)	rs751724804	0.00005
NM_001164508.2(NEB):c.2020G>A (p.Val674Ile)	rs775553284	0.00005
NM_001164508.2(NEB):c.20441G>A (p.Arg6814His)	rs773584363	0.00005
NM_001164508.2(NEB):c.22131C>G (p.His7377Gln)	rs777069125	0.00005
NM_001164508.2(NEB):c.22183G>A (p.Val7395Ile)	rs1396168176	0.00005
NM_001164508.2(NEB):c.2249C>T (p.Thr750Met)	rs757505325	0.00005
NM_001164508.2(NEB):c.23555C>T (p.Ser7852Leu)	rs200454939	0.00005
NM_001164508.2(NEB):c.24909T>C (p.Gly8303=)	rs754365974	0.00005
NM_001164508.2(NEB):c.25130G>A (p.Arg8377Gln)	rs369174368	0.00005
NM_001164508.2(NEB):c.252C>T (p.Pro84=)	rs201735545	0.00005
NM_001164508.2(NEB):c.2683G>A (p.Ala895Thr)	rs753428817	0.00005
NM_001164508.2(NEB):c.2739C>T (p.Ser913=)	rs185674525	0.00005
NM_001164508.2(NEB):c.3716G>T (p.Ser1239Ile)	rs201541240	0.00005
NM_001164508.2(NEB):c.4469T>C (p.Met1490Thr)	rs554984749	0.00005
NM_001164508.2(NEB):c.491C>T (p.Ser164Leu)	rs747225286	0.00005
NM_001164508.2(NEB):c.5300C>T (p.Pro1767Leu)	rs370000978	0.00005
NM_001164508.2(NEB):c.5452-4A>G	rs376623225	0.00005
NM_001164508.2(NEB):c.6325A>G (p.Thr2109Ala)	rs578023308	0.00005
NM_001164508.2(NEB):c.6614G>A (p.Arg2205His)	rs752349680	0.00005
NM_001243279.3(ACSF3):c.246del (p.Cys83fs)	rs772073893	0.00005
NM_001243279.3(ACSF3):c.666+9C>T	rs767663198	0.00005
NM_001243279.3(ACSF3):c.936C>T (p.His312=)	rs202119269	0.00005
NM_001352514.2(HLCS):c.1857C>A (p.Ala619=)	rs759178651	0.00005
NM_001360.3(DHCR7):c.1A>G (p.Met1Val)	rs104886033	0.00005
NM_001360.3(DHCR7):c.976G>T (p.Val326Leu)	rs80338859	0.00005
NM_001369.3(DNAH5):c.10041G>T (p.Met3347Ile)	rs536239913	0.00005
NM_001369.3(DNAH5):c.10472C>T (p.Thr3491Met)	rs760010021	0.00005
NM_001369.3(DNAH5):c.12104C>T (p.Thr4035Met)	rs200894344	0.00005
NM_001369.3(DNAH5):c.12857G>A (p.Gly4286Glu)	rs185104576	0.00005
NM_001369.3(DNAH5):c.1290A>G (p.Glu430=)	rs990691780	0.00005
NM_001369.3(DNAH5):c.13072C>T (p.Arg4358Trp)	rs753960777	0.00005
NM_001369.3(DNAH5):c.13672A>G (p.Lys4558Glu)	rs752010216	0.00005
NM_001369.3(DNAH5):c.1612G>A (p.Glu538Lys)	rs141651575	0.00005
NM_001369.3(DNAH5):c.1892G>A (p.Arg631His)	rs370272258	0.00005
NM_001369.3(DNAH5):c.1958C>T (p.Thr653Met)	rs201020293	0.00005
NM_001369.3(DNAH5):c.3037A>G (p.Ser1013Gly)	rs369783406	0.00005
NM_001369.3(DNAH5):c.3302T>C (p.Val1101Ala)	rs376453450	0.00005
NM_001369.3(DNAH5):c.3655C>T (p.Arg1219Cys)	rs745321705	0.00005
NM_001369.3(DNAH5):c.4338C>G (p.Leu1446=)	rs377432140	0.00005
NM_001369.3(DNAH5):c.5776G>A (p.Glu1926Lys)	rs771222700	0.00005
NM_001369.3(DNAH5):c.6249G>A (p.Met2083Ile)	rs753614861	0.00005
NM_001369.3(DNAH5):c.8018A>G (p.Asn2673Ser)	rs200591493	0.00005
NM_001369.3(DNAH5):c.9218A>G (p.Tyr3073Cys)	rs138505566	0.00005
NM_001370658.1(BTD):c.383G>A (p.Arg128His)	rs367902696	0.00005
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys)	rs369102875	0.00005
NM_001378454.1(ALMS1):c.558C>T (p.Asp186=)	rs370228166	0.00005
NM_001378454.1(ALMS1):c.5827C>T (p.Arg1943Cys)	rs370398704	0.00005
NM_001875.5(CPS1):c.2148T>A (p.Asn716Lys)	rs369061090	0.00005
NM_001875.5(CPS1):c.3121C>T (p.Leu1041=)	rs146064786	0.00005
NM_001876.4(CPT1A):c.1163+1G>A	rs148059333	0.00005
NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu)	rs80356779	0.00005
NM_001876.4(CPT1A):c.434G>A (p.Arg145His)	rs373015421	0.00005
NM_001876.4(CPT1A):c.525G>A (p.Pro175=)	rs371805329	0.00005
NM_002435.3(MPI):c.132G>A (p.Lys44=)	rs778577329	0.00005
NM_002485.5(NBN):c.254A>G (p.Asn85Ser)	rs587780095	0.00005
NM_002529.4(NTRK1):c.1939G>T (p.Val647Leu)	rs142870382	0.00005
NM_003060.4(SLC22A5):c.1462C>T (p.Arg488Cys)	rs377216516	0.00005
NM_003060.4(SLC22A5):c.769C>T (p.Arg257Trp)	rs386134203	0.00005
NM_003060.4(SLC22A5):c.844C>T (p.Arg282Ter)	rs121908886	0.00005
NM_003640.5(ELP1):c.2799G>A (p.Arg933=)	rs367974002	0.00005
NM_003659.4(AGPS):c.35G>A (p.Gly12Asp)	rs557931141	0.00005
NM_003742.4(ABCB11):c.2012-8T>G	rs769910565	0.00005
NM_004035.7(ACOX1):c.405T>C (p.Thr135=)	rs142474717	0.00005
NM_004035.7(ACOX1):c.912C>T (p.Ser304=)	rs144826451	0.00005
NM_004453.4(ETFDH):c.1351G>C (p.Val451Leu)	rs558005496	0.00005
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr)	rs121964954	0.00005
NM_004646.4(NPHS1):c.2491C>T (p.Arg831Cys)	rs386833915	0.00005
NM_004646.4(NPHS1):c.2928G>T (p.Arg976Ser)	rs138656762	0.00005
NM_004937.3(CTNS):c.364G>A (p.Ala122Thr)	rs187396540	0.00005
NM_004937.3(CTNS):c.589G>A (p.Gly197Arg)	rs113994207	0.00005
NM_005609.4(PYGM):c.1239+9G>A	rs374937711	0.00005
NM_005609.4(PYGM):c.2178-1G>A	rs143670942	0.00005
NM_005629.4(SLC6A8):c.1646A>C (p.Asn549Thr)	rs782790088	0.00005
NM_005957.5(MTHFR):c.1004G>A (p.Arg335His)	rs543016186	0.00005
NM_005957.5(MTHFR):c.1626T>C (p.Asn542=)	rs190046545	0.00005
NM_005957.5(MTHFR):c.459C>G (p.Ile153Met)	rs767890671	0.00005
NM_006019.4(TCIRG1):c.477G>A (p.Gly159=)	rs746159308	0.00005
NM_006261.5(PROP1):c.358C>T (p.Arg120Cys)	rs121917839	0.00005
NM_007259.5(VPS45):c.577-5C>T	rs1266646389	0.00005
NM_012144.4(DNAI1):c.1490G>A (p.Gly497Asp)	rs376252276	0.00005
NM_012144.4(DNAI1):c.2064G>A (p.Leu688=)	rs750785483	0.00005
NM_012243.3(SLC35A3):c.886A>G (p.Ser296Gly)	rs141952252	0.00005
NM_012434.5(SLC17A5):c.1260-2A>C	rs144074675	0.00005
NM_012434.5(SLC17A5):c.719G>A (p.Trp240Ter)	rs386833993	0.00005
NM_013339.4(ALG6):c.167+7T>C	rs374146302	0.00005
NM_014049.5(ACAD9):c.1650C>G (p.Ala550=)	rs559422558	0.00005
NM_014140.4(SMARCAL1):c.735C>T (p.Gly245=)	rs149510554	0.00005
NM_014244.5(ADAMTS2):c.1911C>T (p.Gly637=)	rs142275705	0.00005
NM_014244.5(ADAMTS2):c.291C>T (p.Phe97=)	rs462009	0.00005
NM_014249.4(NR2E3):c.123G>A (p.Val41=)	rs555860015	0.00005
NM_014252.4(SLC25A15):c.381G>A (p.Thr127=)	rs543205273	0.00005
NM_014252.4(SLC25A15):c.388G>A (p.Val130Met)	rs553432772	0.00005
NM_014252.4(SLC25A15):c.417G>A (p.Glu139=)	rs752316567	0.00005
NM_014363.6(SACS):c.5222C>T (p.Thr1741Ile)	rs201724656	0.00005
NM_014363.6(SACS):c.861C>T (p.Tyr287=)	rs200877272	0.00005
NM_014844.5(TECPR2):c.1792G>A (p.Gly598Arg)	rs772792595	0.00005
NM_015166.4(MLC1):c.1032C>T (p.Asn344=)	rs199707637	0.00005
NM_016955.4(SEPSECS):c.1A>G (p.Met1Val)	rs1025711998	0.00005
NM_020166.5(MCCC1):c.2035G>A (p.Ala679Thr)	rs202192191	0.00005
NM_020320.5(RARS2):c.1544A>G (p.Asp515Gly)	rs765088174	0.00005
NM_020533.3(MCOLN1):c.876C>T (p.His292=)	rs199588225	0.00005
NM_022132.5(MCCC2):c.295G>C (p.Glu99Gln)	rs119103219	0.00005
NM_022132.5(MCCC2):c.641G>C (p.Gly214Ala)	rs277995	0.00005
NM_024685.4(BBS10):c.1837T>C (p.Tyr613His)	rs141647931	0.00005
NM_033159.4(HYAL1):c.150C>T (p.Asp50=)	rs377272298	0.00005
NM_033305.3(VPS13A):c.963G>A (p.Val321=)	rs184828562	0.00005
NM_052845.4(MMAB):c.562G>A (p.Val188Met)	rs768176676	0.00005
NM_052845.4(MMAB):c.665C>T (p.Thr222Met)	rs142070439	0.00005
NM_057176.3(BSND):c.22C>T (p.Arg8Trp)	rs74315285	0.00005
NM_138413.4(HOGA1):c.811C>T (p.Arg271Cys)	rs367741588	0.00005
NM_138694.4(PKHD1):c.10737A>G (p.Val3579=)	rs555442845	0.00005
NM_138694.4(PKHD1):c.11224G>A (p.Ala3742Thr)	rs557211301	0.00005
NM_138694.4(PKHD1):c.5129C>T (p.Pro1710Leu)	rs749294509	0.00005
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr)	rs200511261	0.00005
NM_152564.5(VPS13B):c.10755C>T (p.Asp3585=)	rs145950999	0.00005
NM_152564.5(VPS13B):c.8751G>A (p.Ser2917=)	rs775883776	0.00005
NM_152564.5(VPS13B):c.9035C>G (p.Thr3012Ser)	rs576577339	0.00005
NM_152618.3(BBS12):c.2100T>C (p.Asn700=)	rs145847043	0.00005
NM_206933.4(USH2A):c.1731C>T (p.Cys577=)	rs41313732	0.00005
NM_206933.4(USH2A):c.9110G>A (p.Arg3037His)	rs533700989	0.00005
NR_003051.3(RMRP):n.-19_-13dupTCTGTGA	rs1554651506	0.00005
NR_003051.4(RMRP):n.37C>A	rs549085067	0.00005
NM_000016.6(ACADM):c.1118T>C (p.Val373Ala)	rs373057729	0.00004
NM_000016.6(ACADM):c.1189T>A (p.Tyr397Asn)	rs759158371	0.00004
NM_000016.6(ACADM):c.50G>A (p.Arg17His)	rs17848070	0.00004
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp)	rs745832866	0.00004
NM_000018.4(ACADVL):c.1820G>C (p.Cys607Ser)	rs200117742	0.00004
NM_000019.4(ACAT1):c.444_445del (p.Met148fs)	rs727503795	0.00004
NM_000023.4(SGCA):c.1053C>T (p.Arg351=)	rs148373921	0.00004
NM_000023.4(SGCA):c.661C>T (p.Arg221Cys)	rs748936034	0.00004
NM_000023.4(SGCA):c.90A>G (p.Pro30=)	rs754840688	0.00004
NM_000027.4(AGA):c.24T>C (p.Pro8=)	rs34413111	0.00004
NM_000030.3(AGXT):c.484G>A (p.Val162Met)	rs147497484	0.00004
NM_000030.3(AGXT):c.613T>C (p.Ser205Pro)	rs121908520	0.00004
NM_000033.4(ABCD1):c.436T>A (p.Phe146Ile)	rs782720024	0.00004
NM_000033.4(ABCD1):c.600C>T (p.Asp200=)	rs782724538	0.00004
NM_000035.4(ALDOB):c.379+1G>T	rs138121153	0.00004
NM_000046.5(ARSB):c.105G>A (p.Pro35=)	rs1423589060	0.00004
NM_000046.5(ARSB):c.1086G>A (p.Arg362=)	rs144879531	0.00004
NM_000046.5(ARSB):c.971G>T (p.Gly324Val)	rs398123125	0.00004
NM_000046.5(ARSB):c.975C>T (p.Gly325=)	rs75766476	0.00004
NM_000048.4(ASL):c.1063-8G>A	rs548397162	0.00004
NM_000048.4(ASL):c.578G>A (p.Arg193Gln)	rs373697663	0.00004
NM_000051.4(ATM):c.1402_1403del (p.Lys468fs)	rs587781347	0.00004
NM_000051.4(ATM):c.2610C>T (p.Asn870=)	rs587780618	0.00004
NM_000051.4(ATM):c.275A>C (p.Lys92Thr)	rs200151849	0.00004
NM_000051.4(ATM):c.283C>A (p.Gln95Lys)	rs587781545	0.00004
NM_000051.4(ATM):c.3352A>G (p.Thr1118Ala)	rs572564322	0.00004
NM_000051.4(ATM):c.3601T>A (p.Phe1201Ile)	rs576884305	0.00004
NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu)	rs141087784	0.00004
NM_000051.4(ATM):c.4724G>A (p.Arg1575His)	rs550552791	0.00004
NM_000051.4(ATM):c.8428A>C (p.Lys2810Gln)	rs730881325	0.00004
NM_000053.4(ATP7B):c.1122C>G (p.Val374=)	rs201254466	0.00004
NM_000053.4(ATP7B):c.1158G>T (p.Gly386=)	rs778775834	0.00004
NM_000053.4(ATP7B):c.1605G>A (p.Glu535=)	rs762567255	0.00004
NM_000053.4(ATP7B):c.1630C>T (p.Gln544Ter)	rs766906034	0.00004
NM_000053.4(ATP7B):c.2301C>T (p.Pro767=)	rs770787421	0.00004
NM_000053.4(ATP7B):c.2866-1521G>A	rs915988161	0.00004
NM_000053.4(ATP7B):c.3451C>T (p.Arg1151Cys)	rs755554442	0.00004
NM_000053.4(ATP7B):c.3885C>T (p.Ala1295=)	rs200597654	0.00004
NM_000053.4(ATP7B):c.4039G>A (p.Gly1347Ser)	rs587783318	0.00004
NM_000053.4(ATP7B):c.4215C>T (p.Gly1405=)	rs767721448	0.00004
NM_000053.4(ATP7B):c.503T>C (p.Leu168Pro)	rs756237962	0.00004
NM_000057.4(BLM):c.2371C>T (p.Arg791Cys)	rs55880859	0.00004
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter)	rs587779884	0.00004
NM_000057.4(BLM):c.3013A>G (p.Ile1005Val)	rs201829983	0.00004
NM_000057.4(BLM):c.3210+2dup	rs755232267	0.00004
NM_000057.4(BLM):c.3426C>T (p.Ala1142=)	rs147148171	0.00004
NM_000070.3(CAPN3):c.1557C>T (p.His519=)	rs368385372	0.00004
NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu)	rs199806879	0.00004
NM_000070.3(CAPN3):c.2040C>T (p.Val680=)	rs200583904	0.00004
NM_000070.3(CAPN3):c.865C>T (p.Arg289Trp)	rs528417986	0.00004
NM_000071.3(CBS):c.1281G>A (p.Pro427=)	rs563330591	0.00004
NM_000071.3(CBS):c.502G>A (p.Val168Met)	rs121964970	0.00004
NM_000080.4(CHRNE):c.1374C>T (p.Cys458=)	rs201030784	0.00004
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg)	rs569681869	0.00004
NM_000094.4(COL7A1):c.1167G>A (p.Thr389=)	rs377732069	0.00004
NM_000094.4(COL7A1):c.3411C>T (p.Ala1137=)	rs548139799	0.00004
NM_000094.4(COL7A1):c.3917G>A (p.Arg1306His)	rs558424479	0.00004
NM_000094.4(COL7A1):c.4024C>T (p.Pro1342Ser)	rs200290149	0.00004
NM_000094.4(COL7A1):c.4704C>T (p.Thr1568=)	rs573530168	0.00004
NM_000094.4(COL7A1):c.8505C>T (p.Arg2835=)	rs748854889	0.00004
NM_000098.3(CPT2):c.691C>T (p.Arg231Trp)	rs373638740	0.00004
NM_000098.3(CPT2):c.721A>G (p.Arg241Gly)	rs200252755	0.00004
NM_000128.4(F11):c.400C>T (p.Gln134Ter)	rs756908183	0.00004
NM_000128.4(F11):c.803G>A (p.Arg268His)	rs201688862	0.00004
NM_000133.4(F9):c.582T>G (p.Thr194=)	rs754155651	0.00004
NM_000135.4(FANCA):c.1510C>T (p.Arg504Cys)	rs200291237	0.00004
NM_000135.4(FANCA):c.1951G>A (p.Gly651Arg)	rs140785340	0.00004
NM_000135.4(FANCA):c.2008C>T (p.Arg670Cys)	rs587778312	0.00004
NM_000135.4(FANCA):c.23A>G (p.Asn8Ser)	rs757468756	0.00004
NM_000135.4(FANCA):c.2567T>C (p.Leu856Ser)	rs370085403	0.00004
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln)	rs372254398	0.00004
NM_000135.4(FANCA):c.2982-8C>G	rs781331325	0.00004
NM_000135.4(FANCA):c.3032G>A (p.Arg1011His)	rs200022826	0.00004
NM_000135.4(FANCA):c.3349-1G>A	rs769862233	0.00004
NM_000135.4(FANCA):c.3665C>T (p.Pro1222Leu)	rs374537936	0.00004
NM_000135.4(FANCA):c.793-9T>C	rs757500718	0.00004
NM_000135.4(FANCA):c.944C>G (p.Pro315Arg)	rs764121307	0.00004
NM_000137.4(FAH):c.81+8G>A	rs188046704	0.00004
NM_000143.4(FH):c.580G>A (p.Ala194Thr)	rs587782215	0.00004
NM_000151.4(G6PC1):c.132C>T (p.Tyr44=)	rs202190197	0.00004
NM_000151.4(G6PC1):c.328G>A (p.Glu110Lys)	rs104894567	0.00004
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter)	rs140826989	0.00004
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer)	rs781088002	0.00004
NM_000152.5(GAA):c.784G>A (p.Glu262Lys)	rs201896815	0.00004
NM_000152.5(GAA):c.861C>T (p.Pro287=)	rs778580823	0.00004
NM_000152.5(GAA):c.912C>T (p.Gly304=)	rs368741815	0.00004
NM_000153.4(GALC):c.1592G>A (p.Arg531His)	rs200378205	0.00004
NM_000153.4(GALC):c.1752A>G (p.Lys584=)	rs201016488	0.00004
NM_000153.4(GALC):c.2041G>A (p.Val681Met)	rs200607029	0.00004
NM_000154.2(GALK1):c.1031C>T (p.Thr344Met)	rs371517491	0.00004
NM_000154.2(GALK1):c.1045G>A (p.Gly349Ser)	rs754967473	0.00004
NM_000158.4(GBE1):c.1825G>A (p.Glu609Lys)	rs772802187	0.00004
NM_000158.4(GBE1):c.1932G>A (p.Gly644=)	rs544906178	0.00004
NM_000159.4(GCDH):c.1063C>T (p.Arg355Cys)	rs781477694	0.00004
NM_000169.3(GLA):c.1184G>C (p.Gly395Ala)	rs375661583	0.00004
NM_000169.3(GLA):c.644A>G (p.Asn215Ser)	rs28935197	0.00004
NM_000170.3(GLDC):c.2311G>A (p.Gly771Arg)	rs386833553	0.00004
NM_000170.3(GLDC):c.2489C>T (p.Thr830Met)	rs386833560	0.00004
NM_000170.3(GLDC):c.3002C>A (p.Thr1001Asn)	rs555776146	0.00004
NM_000170.3(GLDC):c.489A>G (p.Pro163=)	rs770044310	0.00004
NM_000182.5(HADHA):c.1793_1794del (p.His598fs)	rs769580842	0.00004
NM_000182.5(HADHA):c.919-2A>G	rs200017313	0.00004
NM_000195.5(HPS1):c.1977C>T (p.Thr659=)	rs751349303	0.00004
NM_000198.4(HSD3B2):c.518T>G (p.Leu173Arg)	rs762479018	0.00004
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys)	rs766938111	0.00004
NM_000199.5(SGSH):c.1297C>T (p.Arg433Trp)	rs777267343	0.00004
NM_000199.5(SGSH):c.792C>T (p.Asn264=)	rs147962306	0.00004
NM_000199.5(SGSH):c.89-10C>T	rs766929408	0.00004
NM_000202.8(IDS):c.696C>T (p.Phe232=)	rs782498858	0.00004
NM_000203.5(IDUA):c.1482C>G (p.Val494=)	rs999890083	0.00004
NM_000203.5(IDUA):c.30G>A (p.Leu10=)	rs549738466	0.00004
NM_000203.5(IDUA):c.536C>T (p.Thr179Met)	rs776098539	0.00004
NM_000203.5(IDUA):c.957G>C (p.Ala319=)	rs748350723	0.00004
NM_000231.3(SGCG):c.195+1G>C	rs200502077	0.00004
NM_000231.3(SGCG):c.414A>G (p.Gln138=)	rs770596449	0.00004
NM_000243.3(MEFV):c.1532C>T (p.Ala511Val)	rs144270019	0.00004
NM_000243.3(MEFV):c.2109C>T (p.Ser703=)	rs104895118	0.00004
NM_000243.3(MEFV):c.775A>G (p.Ile259Val)	rs104895144	0.00004
NM_000246.4(CIITA):c.1834A>G (p.Thr612Ala)	rs142257962	0.00004
NM_000246.4(CIITA):c.2617T>C (p.Leu873=)	rs368233530	0.00004
NM_000252.3(MTM1):c.1383A>G (p.Gln461=)	rs782410861	0.00004
NM_000252.3(MTM1):c.1695C>T (p.Asp565=)	rs140744506	0.00004
NM_000260.4(MYO7A):c.2489G>A (p.Arg830His)	rs371029653	0.00004
NM_000260.4(MYO7A):c.5648G>A (p.Arg1883Gln)	rs111033215	0.00004
NM_000263.4(NAGLU):c.1558C>T (p.Arg520Trp)	rs992677795	0.00004
NM_000263.4(NAGLU):c.1900G>A (p.Glu634Lys)	rs147036053	0.00004
NM_000277.3(PAH):c.1010G>A (p.Gly337Glu)	rs62517206	0.00004
NM_000277.3(PAH):c.1237C>T (p.Arg413Cys)	rs62644467	0.00004
NM_000277.3(PAH):c.261C>A (p.Ser87Arg)	rs62516151	0.00004
NM_000277.3(PAH):c.420G>A (p.Ala140=)	rs200366386	0.00004
NM_000277.3(PAH):c.842+1G>A	rs5030852	0.00004
NM_000277.3(PAH):c.964G>A (p.Ala322Thr)	rs62514957	0.00004
NM_000282.4(PCCA):c.819+9A>G	rs372739944	0.00004
NM_000282.4(PCCA):c.825A>G (p.Leu275=)	rs376560248	0.00004
NM_000289.6(PFKM):c.1770C>T (p.Ala590=)	rs751097669	0.00004
NM_000289.6(PFKM):c.298C>T (p.Arg100Ter)	rs374547385	0.00004
NM_000289.6(PFKM):c.468G>C (p.Leu156=)	rs772301967	0.00004
NM_000289.6(PFKM):c.978G>A (p.Glu326=)	rs550083752	0.00004
NM_000303.3(PMM2):c.24del (p.Cys9fs)	rs768021123	0.00004
NM_000303.3(PMM2):c.640-15479C>T	rs1258107584	0.00004
NM_000310.4(PPT1):c.234+7C>T	rs200777536	0.00004
NM_000310.4(PPT1):c.29T>A (p.Leu10Ter)	rs137852699	0.00004
NM_000310.4(PPT1):c.535C>T (p.Arg179Cys)	rs560471003	0.00004
NM_000349.3(STAR):c.661G>A (p.Gly221Ser)	rs139081695	0.00004
NM_000352.6(ABCC8):c.1536C>T (p.Tyr512=)	rs765090096	0.00004
NM_000352.6(ABCC8):c.1924-10C>T	rs200823913	0.00004
NM_000352.6(ABCC8):c.2041-21G>A	rs746714109	0.00004
NM_000352.6(ABCC8):c.4703G>A (p.Arg1568Gln)	rs374743072	0.00004
NM_000352.6(ABCC8):c.62T>A (p.Val21Asp)	rs200670692	0.00004
NM_000352.6(ABCC8):c.942C>T (p.Phe314=)	rs768582290	0.00004
NM_000359.3(TGM1):c.376C>T (p.Arg126Cys)	rs397514524	0.00004
NM_000359.3(TGM1):c.377G>A (p.Arg126His)	rs200491579	0.00004
NM_000359.3(TGM1):c.425G>A (p.Arg142His)	rs121918718	0.00004
NM_000360.4(TH):c.1382C>T (p.Pro461Leu)	rs767635052	0.00004
NM_000360.4(TH):c.1470C>G (p.Ala490=)	rs777477661	0.00004
NM_000360.4(TH):c.91-818G>A	rs753403788	0.00004
NM_000370.3(TTPA):c.400C>T (p.Arg134Ter)	rs121917851	0.00004
NM_000391.4(TPP1):c.225A>G (p.Gln75=)	rs368709098	0.00004
NM_000414.4(HSD17B4):c.1131C>T (p.Phe377=)	rs200347945	0.00004
NM_000441.2(SLC26A4):c.1673A>G (p.Asn558Ser)	rs766206507	0.00004
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg)	rs121908362	0.00004
NM_000441.2(SLC26A4):c.279del (p.Ser93fs)	rs786204421	0.00004
NM_000441.2(SLC26A4):c.697G>C (p.Val233Leu)	rs397516431	0.00004
NM_000466.3(PEX1):c.2296G>A (p.Asp766Asn)	rs374010060	0.00004
NM_000466.3(PEX1):c.2846G>A (p.Arg949Gln)	rs61750425	0.00004
NM_000466.3(PEX1):c.889A>G (p.Ile297Val)	rs181796768	0.00004
NM_000478.6(ALPL):c.398C>G (p.Ala133Gly)	rs184095519	0.00004
NM_000478.6(ALPL):c.979T>C (p.Phe327Leu)	rs121918010	0.00004
NM_000481.4(AMT):c.-55C>T	rs386833677	0.00004
NM_000481.4(AMT):c.280C>T (p.Arg94Trp)	rs1126422	0.00004
NM_000487.6(ARSA):c.1175G>A (p.Arg392Gln)	rs199476391	0.00004
NM_000489.6(ATRX):c.1047C>G (p.Pro349=)	rs200288042	0.00004
NM_000489.6(ATRX):c.1438A>G (p.Thr480Ala)	rs587780284	0.00004
NM_000489.6(ATRX):c.2001G>A (p.Pro667=)	rs139997330	0.00004
NM_000489.6(ATRX):c.2484G>C (p.Met828Ile)	rs782705007	0.00004
NM_000489.6(ATRX):c.3091G>A (p.Gly1031Ser)	rs782781078	0.00004
NM_000489.6(ATRX):c.3555G>C (p.Lys1185Asn)	rs782696086	0.00004
NM_000489.6(ATRX):c.7439G>A (p.Arg2480Lys)	rs369871569	0.00004
NM_000498.3(CYP11B2):c.1341G>A (p.Met447Ile)	rs544454389	0.00004
NM_000498.3(CYP11B2):c.953C>T (p.Thr318Met)	rs765921219	0.00004
NM_000517.6(HBA2):c.143del (p.Asp48fs)	rs281864539	0.00004
NM_000520.6(HEXA):c.1231G>A (p.Gly411Ser)	rs575121167	0.00004
NM_000520.6(HEXA):c.986+3A>G	rs200926928	0.00004
NM_000521.4(HEXB):c.1082+5G>A	rs5030731	0.00004
NM_000521.4(HEXB):c.1243-6T>C	rs759404927	0.00004
NM_000527.5(LDLR):c.1279A>C (p.Arg427=)	rs371355878	0.00004
NM_000527.5(LDLR):c.1402G>A (p.Val468Ile)	rs5932	0.00004
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn)	rs139624145	0.00004
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)	rs28941776	0.00004
NM_000527.5(LDLR):c.1765G>A (p.Asp589Asn)	rs201971888	0.00004
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)	rs28942084	0.00004
NM_000527.5(LDLR):c.2242G>A (p.Asp748Asn)	rs150104358	0.00004
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr)	rs376459828	0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu)	rs139043155	0.00004
NM_000528.4(MAN2B1):c.1779A>G (p.Pro593=)	rs146778702	0.00004
NM_000528.4(MAN2B1):c.2047-5C>T	rs200424566	0.00004
NM_000528.4(MAN2B1):c.34G>A (p.Ala12Thr)	rs747538432	0.00004
NM_000531.6(OTC):c.85C>G (p.Gln29Glu)	rs752916728	0.00004
NM_000532.5(PCCB):c.1541G>A (p.Arg514Gln)	rs577625696	0.00004
NM_000536.4(RAG2):c.1352G>C (p.Gly451Ala)	rs121918575	0.00004
NM_000543.5(SMPD1):c.475T>C (p.Cys159Arg)	rs727504166	0.00004
NM_000642.3(AGL):c.1552A>G (p.Thr518Ala)	rs754606378	0.00004
NM_000642.3(AGL):c.1829G>A (p.Arg610Lys)	rs781127120	0.00004
NM_000642.3(AGL):c.1933A>G (p.Thr645Ala)	rs576969969	0.00004
NM_000642.3(AGL):c.3738A>T (p.Gly1246=)	rs780617757	0.00004
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln)	rs587778818	0.00004
NM_001007792.1(NTRK1):c.163C>A (p.Arg55Ser)	rs543320028	0.00004
NM_001033855.3(DCLRE1C):c.1800T>C (p.Asp600=)	rs199619187	0.00004
NM_001033855.3(DCLRE1C):c.261C>A (p.Ile87=)	rs191086777	0.00004
NM_001033855.3(DCLRE1C):c.915G>A (p.Val305=)	rs774772480	0.00004
NM_001042432.2(CLN3):c.1168G>A (p.Val390Met)	rs777383109	0.00004
NM_001079802.2(FKTN):c.397A>G (p.Met133Val)	rs569778463	0.00004
NM_001122769.3(LCA5):c.1800A>G (p.Lys600=)	rs147032284	0.00004
NM_001126108.2(SLC12A3):c.248G>A (p.Arg83Gln)	rs768527231	0.00004
NM_001126108.2(SLC12A3):c.457G>A (p.Val153Met)	rs779074538	0.00004
NM_001130987.2(DYSF):c.4307G>A (p.Gly1436Asp)	rs398123787	0.00004
NM_001142800.2(EYS):c.6557G>A (p.Gly2186Glu)	rs527236068	0.00004
NM_001142800.2(EYS):c.7492G>C (p.Ala2498Pro)	rs1311193836	0.00004
NM_001164277.2(SLC37A4):c.1243C>T (p.Arg415Ter)	rs121908979	0.00004
NM_001164508.2(NEB):c.10092C>T (p.Pro3364=)	rs768708852	0.00004
NM_001164508.2(NEB):c.1015G>A (p.Ala339Thr)	rs762993577	0.00004
NM_001164508.2(NEB):c.11005C>A (p.Leu3669Met)	rs775362248	0.00004
NM_001164508.2(NEB):c.17048C>T (p.Ala5683Val)	rs761829162	0.00004
NM_001164508.2(NEB):c.17183A>T (p.Asp5728Val)	rs756098317	0.00004
NM_001164508.2(NEB):c.17415C>T (p.Tyr5805=)	rs555516831	0.00004
NM_001164508.2(NEB):c.18115G>A (p.Asp6039Asn)	rs377076154	0.00004
NM_001164508.2(NEB):c.18255G>A (p.Met6085Ile)	rs553375465	0.00004
NM_001164508.2(NEB):c.18885G>A (p.Leu6295=)	rs141925015	0.00004
NM_001164508.2(NEB):c.19110T>C (p.Tyr6370=)	rs771969348	0.00004
NM_001164508.2(NEB):c.19801G>A (p.Val6601Met)	rs553079055	0.00004
NM_001164508.2(NEB):c.19989A>T (p.Arg6663Ser)	rs755153044	0.00004
NM_001164508.2(NEB):c.20131C>T (p.Arg6711Trp)	rs533233215	0.00004
NM_001164508.2(NEB):c.20132G>A (p.Arg6711Gln)	rs781250495	0.00004
NM_001164508.2(NEB):c.20834C>T (p.Pro6945Leu)	rs376157878	0.00004
NM_001164508.2(NEB):c.21417+3A>G	rs148950085	0.00004
NM_001164508.2(NEB):c.21863A>G (p.Glu7288Gly)	rs747282707	0.00004
NM_001164508.2(NEB):c.22110A>G (p.Pro7370=)	rs539800267	0.00004
NM_001164508.2(NEB):c.23525G>A (p.Arg7842His)	rs369514998	0.00004
NM_001164508.2(NEB):c.23710C>T (p.Arg7904Cys)	rs758166991	0.00004
NM_001164508.2(NEB):c.24650G>A (p.Arg8217His)	rs201291446	0.00004
NM_001164508.2(NEB):c.25073G>A (p.Arg8358His)	rs796797375	0.00004
NM_001164508.2(NEB):c.25239A>G (p.Glu8413=)	rs576696191	0.00004
NM_001164508.2(NEB):c.25336C>T (p.Arg8446Ter)	rs200731870	0.00004
NM_001164508.2(NEB):c.25415G>A (p.Arg8472His)	rs368346105	0.00004
NM_001164508.2(NEB):c.3425A>T (p.Asp1142Val)	rs370976402	0.00004
NM_001164508.2(NEB):c.4119C>G (p.Asn1373Lys)	rs377653217	0.00004
NM_001164508.2(NEB):c.4271C>T (p.Thr1424Met)	rs372694084	0.00004
NM_001164508.2(NEB):c.4315G>A (p.Glu1439Lys)	rs771779312	0.00004
NM_001164508.2(NEB):c.47A>T (p.Glu16Val)	rs748679499	0.00004
NM_001164508.2(NEB):c.5174T>C (p.Phe1725Ser)	rs368270996	0.00004
NM_001164508.2(NEB):c.5849A>G (p.Lys1950Arg)	rs758655350	0.00004
NM_001164508.2(NEB):c.6011T>C (p.Val2004Ala)	rs764064217	0.00004
NM_001164508.2(NEB):c.7185C>T (p.Asn2395=)	rs775336786	0.00004
NM_001164508.2(NEB):c.7387A>T (p.Met2463Leu)	rs777231395	0.00004
NM_001164508.2(NEB):c.7677C>T (p.Leu2559=)	rs371565168	0.00004
NM_001164508.2(NEB):c.8834T>C (p.Val2945Ala)	rs748120166	0.00004
NM_001164508.2(NEB):c.8864A>G (p.Lys2955Arg)	rs760903716	0.00004
NM_001164508.2(NEB):c.9619-2A>G	rs375145370	0.00004
NM_001201543.2(FAM161A):c.1501del (p.Cys501fs)	rs767414973	0.00004
NM_001243279.3(ACSF3):c.1242G>A (p.Val414=)	rs766713747	0.00004
NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp)	rs147538370	0.00004
NM_001243279.3(ACSF3):c.726C>T (p.Leu242=)	rs377354800	0.00004
NM_001243279.3(ACSF3):c.781G>T (p.Gly261Ter)	rs746877433	0.00004
NM_001243766.1(POMGNT1):c.794G>A (p.Arg265His)	rs386834010	0.00004
NM_001352514.2(HLCS):c.2260dup (p.Ser754fs)	rs766163167	0.00004
NM_001352514.2(HLCS):c.2341G>A (p.Asp781Asn)	rs149399432	0.00004
NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter)	rs146448211	0.00004
NM_001369.3(DNAH5):c.10378G>A (p.Val3460Met)	rs200012281	0.00004
NM_001369.3(DNAH5):c.13502G>A (p.Arg4501Gln)	rs781267941	0.00004
NM_001369.3(DNAH5):c.1435C>T (p.Arg479Cys)	rs200494845	0.00004
NM_001369.3(DNAH5):c.1982G>A (p.Arg661His)	rs185855852	0.00004
NM_001369.3(DNAH5):c.2462A>G (p.Asn821Ser)	rs750670743	0.00004
NM_001369.3(DNAH5):c.2944C>T (p.Arg982Cys)	rs143673459	0.00004
NM_001369.3(DNAH5):c.3517A>C (p.Ile1173Leu)	rs375686889	0.00004
NM_001369.3(DNAH5):c.4995C>T (p.Ile1665=)	rs748438142	0.00004
NM_001369.3(DNAH5):c.506C>T (p.Ser169Leu)	rs749078502	0.00004
NM_001369.3(DNAH5):c.5932C>G (p.Pro1978Ala)	rs138222058	0.00004
NM_001369.3(DNAH5):c.6551T>C (p.Val2184Ala)	rs200805455	0.00004
NM_001369.3(DNAH5):c.7475C>T (p.Ala2492Val)	rs529080443	0.00004
NM_001369.3(DNAH5):c.7649T>A (p.Leu2550Gln)	rs371695477	0.00004
NM_001369.3(DNAH5):c.8273A>C (p.Glu2758Ala)	rs527914224	0.00004
NM_001369.3(DNAH5):c.9034A>T (p.Ile3012Phe)	rs368476008	0.00004
NM_001369.3(DNAH5):c.9052A>T (p.Ile3018Phe)	rs375063617	0.00004
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys)	rs397514345	0.00004
NM_001370658.1(BTD):c.1536G>A (p.Thr512=)	rs774052068	0.00004
NM_001370658.1(BTD):c.873del (p.Ser291fs)	rs397514395	0.00004
NM_001378454.1(ALMS1):c.355C>T (p.Gln119Ter)	rs751804613	0.00004
NM_001378454.1(ALMS1):c.8109G>A (p.Pro2703=)	rs759983484	0.00004
NM_001386140.1(MTTP):c.1618C>T (p.Arg540Cys)	rs372321643	0.00004
NM_001386140.1(MTTP):c.2320T>G (p.Ser774Ala)	rs148362467	0.00004
NM_001673.5(ASNS):c.1211G>A (p.Arg404His)	rs774808316	0.00004
NM_001692.4(ATP6V1B1):c.943C>T (p.Arg315Ter)	rs145536062	0.00004
NM_001875.5(CPS1):c.3757-10A>C	rs201251176	0.00004
NM_001875.5(CPS1):c.785C>T (p.Ala262Val)	rs372217508	0.00004
NM_002225.5(IVD):c.1232G>A (p.Arg411Gln)	rs143348838	0.00004
NM_002225.5(IVD):c.1243G>A (p.Gly415Ser)	rs150855952	0.00004
NM_002225.5(IVD):c.287-1G>A	rs1398838997	0.00004
NM_002529.4(NTRK1):c.1473C>T (p.Ile491=)	rs373181158	0.00004
NM_002529.4(NTRK1):c.288-5C>T	rs200860423	0.00004
NM_002529.4(NTRK1):c.676G>A (p.Gly226Ser)	rs760918699	0.00004
NM_002529.4(NTRK1):c.818G>A (p.Arg273Gln)	rs200305545	0.00004
NM_003060.4(SLC22A5):c.1017T>C (p.Asn339=)	rs758572818	0.00004
NM_003060.4(SLC22A5):c.680G>A (p.Arg227His)	rs185551386	0.00004
NM_003384.3(VRK1):c.961C>T (p.Arg321Cys)	rs772731615	0.00004
NM_003640.5(ELP1):c.2026G>A (p.Gly676Ser)	rs537930129	0.00004
NM_003640.5(ELP1):c.3592C>T (p.Arg1198Ter)	rs376078668	0.00004
NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys)	rs72549395	0.00004
NM_003742.4(ABCB11):c.810G>A (p.Glu270=)	rs369671177	0.00004
NM_003907.3(EIF2B5):c.271A>G (p.Thr91Ala)	rs28939717	0.00004
NM_003907.3(EIF2B5):c.453G>A (p.Val151=)	rs376258328	0.00004
NM_003982.4(SLC7A7):c.377del (p.Ile126fs)	rs774080549	0.00004
NM_003982.4(SLC7A7):c.625+1G>A	rs386833822	0.00004
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys)	rs767178508	0.00004
NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter)	rs201217593	0.00004
NM_004268.5(MED17):c.1597C>T (p.Gln533Ter)	rs752341132	0.00004
NM_004629.2(FANCG):c.1521G>A (p.Ala507=)	rs373411028	0.00004
NM_004629.2(FANCG):c.77A>G (p.Gln26Arg)	rs200677800	0.00004
NM_004646.4(NPHS1):c.2227C>T (p.Arg743Cys)	rs386833909	0.00004
NM_004937.3(CTNS):c.473T>C (p.Leu158Pro)	rs113994206	0.00004
NM_004937.3(CTNS):c.510C>T (p.Phe170=)	rs747488464	0.00004
NM_004937.3(CTNS):c.635C>T (p.Ala212Val)	rs776658046	0.00004
NM_004937.3(CTNS):c.852+8C>T	rs780856527	0.00004
NM_005476.7(GNE):c.527A>T (p.Asp176Val)	rs139425890	0.00004
NM_005476.7(GNE):c.598A>T (p.Ile200Phe)	rs369328625	0.00004
NM_005476.7(GNE):c.647T>C (p.Val216Ala)	rs779694939	0.00004
NM_005609.4(PYGM):c.1466C>G (p.Pro489Arg)	rs398124209	0.00004
NM_005609.4(PYGM):c.808C>T (p.Arg270Ter)	rs767739769	0.00004
NM_005629.4(SLC6A8):c.76G>A (p.Gly26Arg)	rs1233444890	0.00004
NM_005726.6(TSFM):c.816C>T (p.Asp272=)	rs183575246	0.00004
NM_005726.6(TSFM):c.944G>A (p.Cys315Tyr)	rs587777688	0.00004
NM_005957.5(MTHFR):c.1129C>T (p.Arg377Cys)	rs121434296	0.00004
NM_005957.5(MTHFR):c.1130G>A (p.Arg377His)	rs750323424	0.00004
NM_005957.5(MTHFR):c.90G>A (p.Ser30=)	rs765167328	0.00004
NM_006019.4(TCIRG1):c.1904C>T (p.Thr635Met)	rs763119311	0.00004
NM_006261.5(PROP1):c.359G>A (p.Arg120His)	rs769171020	0.00004
NM_006493.4(CLN5):c.838G>T (p.Gly280Ter)	rs768449493	0.00004
NM_006623.4(PHGDH):c.1116C>T (p.Pro372=)	rs587662790	0.00004
NM_007259.5(VPS45):c.390T>C (p.Ile130=)	rs782273593	0.00004
NM_012144.4(DNAI1):c.1693G>A (p.Val565Met)	rs139953639	0.00004
NM_012243.3(SLC35A3):c.680dup (p.Asp227fs)	rs866803539	0.00004
NM_013339.4(ALG6):c.1341C>T (p.Val447=)	rs777326636	0.00004
NM_013339.4(ALG6):c.618C>T (p.His206=)	rs374336458	0.00004
NM_014140.4(SMARCAL1):c.1147+8G>A	rs759562755	0.00004
NM_014244.5(ADAMTS2):c.102C>A (p.Pro34=)	rs1402048390	0.00004
NM_014244.5(ADAMTS2):c.1914C>T (p.Asp638=)	rs752737484	0.00004
NM_014244.5(ADAMTS2):c.762G>A (p.Arg254=)	rs753246905	0.00004
NM_014244.5(ADAMTS2):c.976-10C>A	rs973000351	0.00004
NM_014252.4(SLC25A15):c.815C>T (p.Thr272Ile)	rs121908535	0.00004
NM_014363.6(SACS):c.1224C>T (p.Asp408=)	rs2274386	0.00004
NM_014363.6(SACS):c.2439_2440del (p.Val815fs)	rs775059063	0.00004
NM_014363.6(SACS):c.5461T>C (p.Cys1821Arg)	rs376680832	0.00004
NM_014844.5(TECPR2):c.1335C>T (p.Asn445=)	rs778115838	0.00004
NM_014844.5(TECPR2):c.3507C>T (p.Ala1169=)	rs775448295	0.00004
NM_014844.5(TECPR2):c.669A>C (p.Pro223=)	rs750443286	0.00004
NM_014844.5(TECPR2):c.999G>A (p.Ser333=)	rs369972265	0.00004
NM_016277.5(RAB23):c.54A>G (p.Gly18=)	rs767442221	0.00004
NM_016955.4(SEPSECS):c.114+3A>G	rs748528138	0.00004
NM_016955.4(SEPSECS):c.846G>A (p.Leu282=)	rs146539065	0.00004
NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys)	rs28940869	0.00004
NM_018006.5(TRMU):c.1218C>T (p.Ser406=)	rs754239335	0.00004
NM_020166.5(MCCC1):c.1331G>A (p.Arg444His)	rs768785753	0.00004
NM_020320.5(RARS2):c.245G>A (p.Ser82Asn)	rs749061654	0.00004
NM_020533.3(MCOLN1):c.1084G>T (p.Asp362Tyr)	rs121908372	0.00004
NM_020533.3(MCOLN1):c.1719G>A (p.Glu573=)	rs201076545	0.00004
NM_022132.5(MCCC2):c.1309A>G (p.Ile437Val)	rs119103224	0.00004
NM_022132.5(MCCC2):c.1690T>C (p.Ter564Gln)	rs751970792	0.00004
NM_022132.5(MCCC2):c.463C>T (p.Arg155Trp)	rs141030969	0.00004
NM_023036.6(DNAI2):c.1142T>C (p.Leu381Pro)	rs373836524	0.00004
NM_023036.6(DNAI2):c.663G>A (p.Thr221=)	rs368232107	0.00004
NM_024301.5(FKRP):c.899T>C (p.Val300Ala)	rs104894691	0.00004
NM_024312.5(GNPTAB):c.2028G>A (p.Pro676=)	rs192607073	0.00004
NM_024685.4(BBS10):c.1412A>T (p.Asp471Val)	rs200718870	0.00004
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp)	rs768933093	0.00004
NM_031885.5(BBS2):c.534+1G>T	rs773862084	0.00004
NM_031885.5(BBS2):c.744T>C (p.His248=)	rs186893286	0.00004
NM_032520.5(GNPTG):c.610-2A>G	rs193302855	0.00004
NM_033159.4(HYAL1):c.419A>G (p.Asn140Ser)	rs587637619	0.00004
NM_033159.4(HYAL1):c.483T>C (p.Asp161=)	rs368360137	0.00004
NM_033305.3(VPS13A):c.3889C>T (p.Arg1297Ter)	rs200280742	0.00004
NM_033380.3(COL4A5):c.443C>T (p.Pro148Leu)	rs773404950	0.00004
NM_052845.4(MMAB):c.349-9G>A	rs372577644	0.00004
NM_052845.4(MMAB):c.402G>A (p.Ser134=)	rs756766385	0.00004
NM_052845.4(MMAB):c.571C>T (p.Arg191Trp)	rs376128990	0.00004
NM_052845.4(MMAB):c.656A>G (p.Tyr219Cys)	rs765547005	0.00004
NM_054012.4(ASS1):c.1087C>T (p.Arg363Trp)	rs121908640	0.00004
NM_054012.4(ASS1):c.787G>A (p.Val263Met)	rs192838388	0.00004
NM_054012.4(ASS1):c.847G>A (p.Glu283Lys)	rs765338121	0.00004
NM_054012.4(ASS1):c.892del (p.Glu298fs)	rs770362721	0.00004
NM_138413.4(HOGA1):c.443C>T (p.Ala148Val)	rs149896778	0.00004
NM_138413.4(HOGA1):c.720C>T (p.Cys240=)	rs183301169	0.00004
NM_138413.4(HOGA1):c.769T>G (p.Cys257Gly)	rs267606764	0.00004
NM_138694.4(PKHD1):c.150T>G (p.Leu50=)	rs529214120	0.00004
NM_138694.4(PKHD1):c.2079G>T (p.Leu693=)	rs746441159	0.00004
NM_138694.4(PKHD1):c.2280-10C>T	rs749295454	0.00004
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu)	rs199531851	0.00004
NM_138694.4(PKHD1):c.6900C>T (p.Asn2300=)	rs776060304	0.00004
NM_138694.4(PKHD1):c.786A>G (p.Leu262=)	rs570064466	0.00004
NM_152443.3(RDH12):c.524C>T (p.Ser175Leu)	rs116733939	0.00004
NM_152564.5(VPS13B):c.10310C>T (p.Ser3437Phe)	rs200268089	0.00004
NM_152564.5(VPS13B):c.10932C>T (p.Asn3644=)	rs745337140	0.00004
NM_152564.5(VPS13B):c.11616G>A (p.Val3872=)	rs760377055	0.00004
NM_152564.5(VPS13B):c.1425+9G>A	rs551460373	0.00004
NM_152564.5(VPS13B):c.1825T>C (p.Tyr609His)	rs138171489	0.00004
NM_152564.5(VPS13B):c.2825-4T>A	rs201354177	0.00004
NM_152564.5(VPS13B):c.4240C>T (p.Leu1414=)	rs754939057	0.00004
NM_152564.5(VPS13B):c.4396G>T (p.Glu1466Ter)	rs120074151	0.00004
NM_152564.5(VPS13B):c.6125T>A (p.Leu2042Ter)	rs371364257	0.00004
NM_152564.5(VPS13B):c.7675G>T (p.Val2559Leu)	rs144668374	0.00004
NM_152618.3(BBS12):c.1995T>C (p.Val665=)	rs771980986	0.00004
NM_152618.3(BBS12):c.1A>C (p.Met1Leu)	rs750366365	0.00004
NM_153717.3(EVC):c.717T>A (p.Ile239=)	rs372312182	0.00004
NM_172250.3(MMAA):c.440-4G>A	rs780768376	0.00004
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly)	rs121908143	0.00004
NM_182760.4(SUMF1):c.1034G>A (p.Arg345His)	rs139267495	0.00004
NM_183050.4(BCKDHB):c.502C>T (p.Arg168Cys)	rs398124579	0.00004
NM_201548.5(CERKL):c.953T>C (p.Phe318Ser)	rs745341953	0.00004
NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg)	rs368687374	0.00004
NM_206933.4(USH2A):c.3780T>C (p.His1260=)	rs759937489	0.00004
NM_206933.4(USH2A):c.486-14G>A	rs374536346	0.00004
NM_206933.4(USH2A):c.802G>A (p.Gly268Arg)	rs111033280	0.00004
NM_206933.4(USH2A):c.908G>A (p.Arg303His)	rs371777049	0.00004
NR_003051.3(RMRP):n.64C>T	rs786204684	0.00004
NR_003051.4(RMRP):n.196dup	rs796065036	0.00004
NM_000016.6(ACADM):c.1045C>T (p.Arg349Ter)	rs148207467	0.00003
NM_000016.6(ACADM):c.118+18T>A	rs755405418	0.00003
NM_000016.6(ACADM):c.407C>T (p.Ala136Val)	rs750792245	0.00003
NM_000016.6(ACADM):c.426del (p.Lys143fs)	rs777998984	0.00003
NM_000016.6(ACADM):c.443G>A (p.Arg148Lys)	rs778906552	0.00003
NM_000016.6(ACADM):c.599+3A>G	rs375921211	0.00003
NM_000016.6(ACADM):c.928G>A (p.Gly310Arg)	rs747268471	0.00003
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys)	rs771874163	0.00003
NM_000018.4(ACADVL):c.1097G>A (p.Arg366His)	rs112406105	0.00003
NM_000018.4(ACADVL):c.1182+1G>A	rs113690956	0.00003
NM_000018.4(ACADVL):c.1226C>T (p.Thr409Met)	rs113994169	0.00003
NM_000018.4(ACADVL):c.1246G>T (p.Ala416Ser)	rs118204018	0.00003
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln)	rs751995154	0.00003
NM_000018.4(ACADVL):c.1605+7G>A	rs572010910	0.00003
NM_000018.4(ACADVL):c.1748C>G (p.Ser583Trp)	rs1085307648	0.00003
NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp)	rs118204014	0.00003
NM_000018.4(ACADVL):c.1838G>A (p.Arg613Gln)	rs534647044	0.00003
NM_000018.4(ACADVL):c.858G>A (p.Arg286=)	rs531514327	0.00003
NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser)	rs199524907	0.00003
NM_000019.4(ACAT1):c.967A>G (p.Ile323Val)	rs1282394804	0.00003
NM_000022.4(ADA):c.1079-7C>T	rs551934402	0.00003
NM_000022.4(ADA):c.890C>A (p.Pro297Gln)	rs121908718	0.00003
NM_000023.4(SGCA):c.221G>A (p.Arg74Gln)	rs779439298	0.00003
NM_000023.4(SGCA):c.293G>A (p.Arg98His)	rs137852621	0.00003
NM_000023.4(SGCA):c.34G>A (p.Val12Met)	rs766209304	0.00003
NM_000023.4(SGCA):c.371T>C (p.Ile124Thr)	rs768814872	0.00003
NM_000023.4(SGCA):c.518T>C (p.Leu173Pro)	rs143962150	0.00003
NM_000023.4(SGCA):c.522C>T (p.Asn174=)	rs148960833	0.00003
NM_000027.4(AGA):c.319C>T (p.Arg107Ter)	rs765070743	0.00003
NM_000027.4(AGA):c.677G>A (p.Gly226Asp)	rs386833431	0.00003
NM_000030.3(AGXT):c.27C>A (p.Thr9=)	rs180177188	0.00003
NM_000030.3(AGXT):c.481G>T (p.Gly161Cys)	rs180177227	0.00003
NM_000030.3(AGXT):c.568G>A (p.Gly190Arg)	rs180177239	0.00003
NM_000030.3(AGXT):c.847-3C>G	rs180177286	0.00003
NM_000035.4(ALDOB):c.-11+1G>C	rs181639417	0.00003
NM_000046.5(ARSB):c.1178A>C (p.His393Pro)	rs118203944	0.00003
NM_000048.4(ASL):c.1135C>T (p.Arg379Cys)	rs28940287	0.00003
NM_000048.4(ASL):c.1367G>A (p.Arg456Gln)	rs767271619	0.00003
NM_000048.4(ASL):c.284G>A (p.Arg95His)	rs150244667	0.00003
NM_000048.4(ASL):c.577C>T (p.Arg193Trp)	rs1428029508	0.00003
NM_000048.4(ASL):c.924C>T (p.Ala308=)	rs747831550	0.00003
NM_000049.4(ASPA):c.79G>A (p.Gly27Arg)	rs766328537	0.00003
NM_000051.4(ATM):c.1379C>T (p.Thr460Met)	rs587781841	0.00003
NM_000051.4(ATM):c.1898+3A>G	rs200169643	0.00003
NM_000051.4(ATM):c.1905C>T (p.His635=)	rs1020808836	0.00003
NM_000051.4(ATM):c.2250G>A (p.Lys750=)	rs1137887	0.00003
NM_000051.4(ATM):c.2449G>C (p.Asp817His)	rs587778067	0.00003
NM_000051.4(ATM):c.2639-384A>G	rs1131691154	0.00003
NM_000051.4(ATM):c.2836A>G (p.Met946Val)	rs587781992	0.00003
NM_000051.4(ATM):c.2873A>G (p.Glu958Gly)	rs587778069	0.00003
NM_000051.4(ATM):c.4304A>C (p.Lys1435Thr)	rs769980220	0.00003
NM_000051.4(ATM):c.6452+5T>A	rs533830556	0.00003
NM_000051.4(ATM):c.6888A>T (p.Ala2296=)	rs200735689	0.00003
NM_000052.7(ATP7A):c.4073A>G (p.Asn1358Ser)	rs1423719687	0.00003
NM_000053.4(ATP7B):c.1554C>T (p.Ser518=)	rs551051945	0.00003
NM_000053.4(ATP7B):c.1686C>T (p.Ser562=)	rs138962570	0.00003
NM_000053.4(ATP7B):c.2145C>T (p.Tyr715=)	rs751202110	0.00003
NM_000053.4(ATP7B):c.2300C>T (p.Pro767Leu)	rs776668666	0.00003
NM_000053.4(ATP7B):c.2363C>T (p.Thr788Ile)	rs541408630	0.00003
NM_000053.4(ATP7B):c.2447+8A>G	rs747586752	0.00003
NM_000053.4(ATP7B):c.2804C>T (p.Thr935Met)	rs750019452	0.00003
NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr)	rs201497300	0.00003
NM_000053.4(ATP7B):c.3053C>T (p.Ala1018Val)	rs371840514	0.00003
NM_000053.4(ATP7B):c.3121C>T (p.Arg1041Trp)	rs746485916	0.00003
NM_000053.4(ATP7B):c.3189G>A (p.Ala1063=)	rs370527611	0.00003
NM_000053.4(ATP7B):c.3426G>C (p.Gln1142His)	rs778749563	0.00003
NM_000053.4(ATP7B):c.3473G>T (p.Gly1158Val)	rs770428835	0.00003
NM_000053.4(ATP7B):c.3556G>C (p.Gly1186Arg)	rs786204547	0.00003
NM_000053.4(ATP7B):c.3809A>G (p.Asn1270Ser)	rs121907990	0.00003
NM_000053.4(ATP7B):c.3818C>T (p.Pro1273Leu)	rs758355520	0.00003
NM_000057.4(BLM):c.1825C>A (p.Pro609Thr)	rs770255643	0.00003
NM_000057.4(BLM):c.3210+2del	rs587779886	0.00003
NM_000057.4(BLM):c.98+1G>C	rs750293380	0.00003
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu)	rs749863676	0.00003
NM_000070.3(CAPN3):c.1156C>T (p.Arg386Cys)	rs919442493	0.00003
NM_000070.3(CAPN3):c.1256A>G (p.Asp419Gly)	rs886042895	0.00003
NM_000070.3(CAPN3):c.1477C>T (p.Arg493Trp)	rs557164942	0.00003
NM_000070.3(CAPN3):c.1993-1G>A	rs369552114	0.00003
NM_000070.3(CAPN3):c.802-9G>A	rs761211705	0.00003
NM_000071.3(CBS):c.1039G>A (p.Gly347Ser)	rs771298943	0.00003
NM_000071.3(CBS):c.1058C>T (p.Thr353Met)	rs121964972	0.00003
NM_000071.3(CBS):c.1135C>T (p.Arg379Trp)	rs769080151	0.00003
NM_000071.3(CBS):c.1316G>A (p.Arg439Gln)	rs756467921	0.00003
NM_000071.3(CBS):c.374G>A (p.Arg125Gln)	rs781444670	0.00003
NM_000071.3(CBS):c.737-1G>C	rs757428597	0.00003
NM_000071.3(CBS):c.775G>A (p.Gly259Ser)	rs143124288	0.00003
NM_000071.3(CBS):c.785C>T (p.Thr262Met)	rs149119723	0.00003
NM_000071.3(CBS):c.924C>T (p.Tyr308=)	rs149809170	0.00003
NM_000080.4(CHRNE):c.802+7A>C	rs756213406	0.00003
NM_000091.5(COL4A3):c.1450G>A (p.Gly484Arg)	rs777401300	0.00003
NM_000092.5(COL4A4):c.2392G>A (p.Gly798Ser)	rs760803228	0.00003
NM_000094.4(COL7A1):c.1186A>T (p.Ser396Cys)	rs202192755	0.00003
NM_000094.4(COL7A1):c.1936G>C (p.Asp646His)	rs765663530	0.00003
NM_000094.4(COL7A1):c.2100A>C (p.Ser700=)	rs756201098	0.00003
NM_000094.4(COL7A1):c.2852G>A (p.Arg951His)	rs540205999	0.00003
NM_000094.4(COL7A1):c.3064G>A (p.Val1022Ile)	rs562548943	0.00003
NM_000094.4(COL7A1):c.4782+9A>T	rs369635501	0.00003
NM_000094.4(COL7A1):c.5736+9G>A	rs777097228	0.00003
NM_000094.4(COL7A1):c.5929C>T (p.Arg1977Cys)	rs765130674	0.00003
NM_000094.4(COL7A1):c.6261C>A (p.Pro2087=)	rs761393259	0.00003
NM_000094.4(COL7A1):c.6730C>G (p.Pro2244Ala)	rs772457877	0.00003
NM_000094.4(COL7A1):c.8289C>T (p.Gly2763=)	rs763764765	0.00003
NM_000098.3(CPT2):c.1813G>C (p.Val605Leu)	rs751557097	0.00003
NM_000098.3(CPT2):c.887G>A (p.Arg296Gln)	rs764849762	0.00003
NM_000098.3(CPT2):c.985G>T (p.Asp329Tyr)	rs750191719	0.00003
NM_000101.4(CYBA):c.371C>T (p.Ala124Val)	rs179363894	0.00003
NM_000102.4(CYP17A1):c.1019G>A (p.Arg340His)	rs765987481	0.00003
NM_000102.4(CYP17A1):c.374G>A (p.Arg125Gln)	rs104894154	0.00003
NM_000102.4(CYP17A1):c.580G>T (p.Glu194Ter)	rs1173000590	0.00003
NM_000108.5(DLD):c.1081A>G (p.Met361Val)	rs121964993	0.00003
NM_000112.4(SLC26A2):c.1650del (p.Ser551fs)	rs386833497	0.00003
NM_000128.4(F11):c.1327C>T (p.Arg443Cys)	rs369435407	0.00003
NM_000128.4(F11):c.1778C>T (p.Thr593Met)	rs145906668	0.00003
NM_000133.4(F9):c.391+4A>G	rs749754992	0.00003
NM_000135.4(FANCA):c.1087T>C (p.Phe363Leu)	rs531100141	0.00003
NM_000135.4(FANCA):c.1209G>A (p.Ala403=)	rs773318145	0.00003
NM_000135.4(FANCA):c.1459C>T (p.Arg487Trp)	rs143083764	0.00003
NM_000135.4(FANCA):c.1772G>A (p.Arg591Gln)	rs778093769	0.00003
NM_000135.4(FANCA):c.1815G>A (p.Glu605=)	rs773613283	0.00003
NM_000135.4(FANCA):c.190-2A>T	rs183350210	0.00003
NM_000135.4(FANCA):c.2958C>T (p.Asn986=)	rs368953287	0.00003
NM_000135.4(FANCA):c.3297G>C (p.Gln1099His)	rs779268656	0.00003
NM_000135.4(FANCA):c.3316G>A (p.Glu1106Lys)	rs777825824	0.00003
NM_000135.4(FANCA):c.3476G>C (p.Cys1159Ser)	rs762837582	0.00003
NM_000135.4(FANCA):c.3550C>T (p.Arg1184Trp)	rs201492940	0.00003
NM_000135.4(FANCA):c.3610C>T (p.Arg1204Trp)	rs759303096	0.00003
NM_000135.4(FANCA):c.361G>A (p.Val121Met)	rs780035612	0.00003
NM_000135.4(FANCA):c.3627-8T>G	rs77877981	0.00003
NM_000135.4(FANCA):c.4015del (p.Leu1339fs)	rs762902309	0.00003
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His)	rs149851163	0.00003
NM_000136.3(FANCC):c.1014G>A (p.Lys338=)	rs780776360	0.00003
NM_000136.3(FANCC):c.1330-6G>T	rs1223668739	0.00003
NM_000136.3(FANCC):c.906C>G (p.Leu302=)	rs766079351	0.00003
NM_000137.4(FAH):c.10A>C (p.Ile4Leu)	rs754336457	0.00003
NM_000137.4(FAH):c.1A>G (p.Met1Val)	rs1057517972	0.00003
NM_000137.4(FAH):c.880A>C (p.Thr294Pro)	rs370634385	0.00003
NM_000143.4(FH):c.521C>G (p.Pro174Arg)	rs199822819	0.00003
NM_000152.5(GAA):c.1275G>A (p.Pro425=)	rs762826072	0.00003
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys)	rs770610356	0.00003
NM_000152.5(GAA):c.138C>T (p.Ser46=)	rs753375900	0.00003
NM_000152.5(GAA):c.1909C>A (p.Leu637Met)	rs763301606	0.00003
NM_000152.5(GAA):c.1930G>T (p.Ala644Ser)	rs752735168	0.00003
NM_000152.5(GAA):c.1941C>G (p.Cys647Trp)	rs776948121	0.00003
NM_000152.5(GAA):c.2105G>A (p.Arg702His)	rs398123172	0.00003
NM_000152.5(GAA):c.2132C>G (p.Thr711Arg)	rs759292700	0.00003
NM_000152.5(GAA):c.2173C>T (p.Arg725Trp)	rs121907938	0.00003
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys)	rs144016984	0.00003
NM_000152.5(GAA):c.2455C>T (p.Arg819Trp)	rs61736895	0.00003
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter)	rs780321415	0.00003
NM_000152.5(GAA):c.307T>G (p.Cys103Gly)	rs398123174	0.00003
NM_000152.5(GAA):c.309C>T (p.Cys103=)	rs373307393	0.00003
NM_000152.5(GAA):c.503G>A (p.Arg168Gln)	rs376685205	0.00003
NM_000152.5(GAA):c.546G>A (p.Thr182=)	rs143523371	0.00003
NM_000153.4(GALC):c.1186C>T (p.Arg396Trp)	rs770485731	0.00003
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser)	rs752537626	0.00003
NM_000153.4(GALC):c.192C>T (p.Gly64=)	rs753287800	0.00003
NM_000153.4(GALC):c.850G>A (p.Gly284Ser)	rs377274761	0.00003
NM_000153.4(GALC):c.857G>A (p.Gly286Asp)	rs199847983	0.00003
NM_000154.2(GALK1):c.94G>A (p.Val32Met)	rs104894576	0.00003
NM_000157.4(GBA1):c.667T>C (p.Trp223Arg)	rs61748906	0.00003
NM_000157.4(GBA1):c.681T>G (p.Asn227Lys)	rs381418	0.00003
NM_000158.4(GBE1):c.143+8C>G	rs750447886	0.00003
NM_000158.4(GBE1):c.1571G>A (p.Arg524Gln)	rs80338673	0.00003
NM_000158.4(GBE1):c.708G>C (p.Gln236His)	rs137852892	0.00003
NM_000158.4(GBE1):c.760A>G (p.Thr254Ala)	rs770427750	0.00003
NM_000159.4(GCDH):c.1144G>A (p.Ala382Thr)	rs567564095	0.00003
NM_000159.4(GCDH):c.1148G>A (p.Arg383His)	rs764608975	0.00003
NM_000159.4(GCDH):c.344G>A (p.Cys115Tyr)	rs776758971	0.00003
NM_000159.4(GCDH):c.38G>A (p.Arg13His)	rs550100640	0.00003
NM_000159.4(GCDH):c.743C>T (p.Pro248Leu)	rs1057516344	0.00003
NM_000159.4(GCDH):c.769C>T (p.Arg257Trp)	rs766518430	0.00003
NM_000169.3(GLA):c.57G>A (p.Leu19=)	rs1255932020	0.00003
NM_000170.3(GLDC):c.1009C>T (p.Arg337Ter)	rs386833517	0.00003
NM_000170.3(GLDC):c.1644T>G (p.Leu548=)	rs750071045	0.00003
NM_000170.3(GLDC):c.2316-1G>A	rs386833554	0.00003
NM_000170.3(GLDC):c.262G>A (p.Asp88Asn)	rs770826242	0.00003
NM_000170.3(GLDC):c.911C>T (p.Pro304Leu)	rs1207147043	0.00003
NM_000182.5(HADHA):c.955G>A (p.Gly319Ser)	rs752317877	0.00003
NM_000195.5(HPS1):c.204C>T (p.Thr68=)	rs149759513	0.00003
NM_000198.4(HSD3B2):c.1119A>C (p.Ter373Cys)	rs80358218	0.00003
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys)	rs104894639	0.00003
NM_000199.5(SGSH):c.416C>T (p.Thr139Met)	rs775112689	0.00003
NM_000199.5(SGSH):c.633C>A (p.Thr211=)	rs187147954	0.00003
NM_000199.5(SGSH):c.697C>T (p.Arg233Ter)	rs374621913	0.00003
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser)	rs143947056	0.00003
NM_000203.5(IDUA):c.1487C>T (p.Pro496Leu)	rs772416503	0.00003
NM_000203.5(IDUA):c.793-1G>A	rs762779421	0.00003
NM_000203.5(IDUA):c.793G>C (p.Gly265Arg)	rs369090960	0.00003
NM_000206.3(IL2RG):c.281C>T (p.Ser94Leu)	rs775704953	0.00003
NM_000206.3(IL2RG):c.396C>T (p.Leu132=)	rs201840981	0.00003
NM_000206.3(IL2RG):c.455-8A>G	rs781649645	0.00003
NM_000206.3(IL2RG):c.708T>C (p.His236=)	rs750844357	0.00003
NM_000237.3(LPL):c.112G>A (p.Glu38Lys)	rs557015233	0.00003
NM_000243.3(MEFV):c.1758T>C (p.Asn586=)	rs202228332	0.00003
NM_000243.3(MEFV):c.1803T>A (p.Ile601=)	rs779572391	0.00003
NM_000243.3(MEFV):c.2123G>A (p.Arg708His)	rs200375017	0.00003
NM_000243.3(MEFV):c.2164G>A (p.Val722Met)	rs104895201	0.00003
NM_000243.3(MEFV):c.2263A>G (p.Ile755Val)	rs104895194	0.00003
NM_000243.3(MEFV):c.456G>A (p.Gly152=)	rs368333568	0.00003
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp)	rs104895079	0.00003
NM_000243.3(MEFV):c.539C>T (p.Pro180Leu)	rs104895134	0.00003
NM_000246.4(CIITA):c.2888+1G>A	rs372826934	0.00003
NM_000246.4(CIITA):c.772+9G>A	rs750572482	0.00003
NM_000246.4(CIITA):c.948G>A (p.Thr316=)	rs369971838	0.00003
NM_000252.3(MTM1):c.508G>C (p.Val170Leu)	rs782274835	0.00003
NM_000255.4(MMUT):c.1889G>A (p.Gly630Glu)	rs143023066	0.00003
NM_000255.4(MMUT):c.935G>T (p.Gly312Val)	rs864309734	0.00003
NM_000260.4(MYO7A):c.759C>T (p.His253=)	rs182220009	0.00003
NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu)	rs104894595	0.00003
NM_000263.4(NAGLU):c.2021G>A (p.Arg674His)	rs104894590	0.00003
NM_000271.5(NPC1):c.1552C>T (p.Arg518Trp)	rs377515417	0.00003
NM_000271.5(NPC1):c.2130+10C>G	rs776389852	0.00003
NM_000271.5(NPC1):c.2347T>C (p.Leu783=)	rs200384578	0.00003
NM_000271.5(NPC1):c.2474A>G (p.Tyr825Cys)	rs550562774	0.00003
NM_000271.5(NPC1):c.3176G>A (p.Arg1059Gln)	rs771000314	0.00003
NM_000271.5(NPC1):c.423_424dup (p.Lys142fs)	rs773941375	0.00003
NM_000274.4(OAT):c.596C>A (p.Pro199Gln)	rs267606925	0.00003
NM_000277.3(PAH):c.1066T>C (p.Tyr356His)	rs62507320	0.00003
NM_000277.3(PAH):c.1068C>G (p.Tyr356Ter)	rs62516095	0.00003
NM_000277.3(PAH):c.1074A>T (p.Leu358Phe)	rs376480977	0.00003
NM_000277.3(PAH):c.1157A>G (p.Tyr386Cys)	rs62516141	0.00003
NM_000277.3(PAH):c.1256A>G (p.Gln419Arg)	rs752255985	0.00003
NM_000277.3(PAH):c.2T>C (p.Met1Thr)	rs62508575	0.00003
NM_000277.3(PAH):c.516G>T (p.Gln172His)	rs192592111	0.00003
NM_000277.3(PAH):c.631C>A (p.Pro211Thr)	rs62514931	0.00003
NM_000277.3(PAH):c.844G>A (p.Asp282Asn)	rs199475582	0.00003
NM_000277.3(PAH):c.916A>G (p.Ile306Val)	rs62642934	0.00003
NM_000277.3(PAH):c.965C>G (p.Ala322Gly)	rs62514958	0.00003
NM_000282.4(PCCA):c.782A>G (p.Glu261Gly)	rs1169861687	0.00003
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys)	rs774738181	0.00003
NM_000303.3(PMM2):c.421C>T (p.Arg141Cys)	rs746610168	0.00003
NM_000303.3(PMM2):c.640-9T>G	rs370160676	0.00003
NM_000303.3(PMM2):c.712C>T (p.Arg238Cys)	rs142459706	0.00003
NM_000310.4(PPT1):c.282A>G (p.Thr94=)	rs753828114	0.00003
NM_000310.4(PPT1):c.529C>G (p.Gln177Glu)	rs386833650	0.00003
NM_000317.3(PTS):c.186+9A>G	rs202139885	0.00003
NM_000317.3(PTS):c.338A>G (p.Tyr113Cys)	rs762894736	0.00003
NM_000317.3(PTS):c.370G>T (p.Val124Leu)	rs150726932	0.00003
NM_000317.3(PTS):c.84-291A>G	rs1480995114	0.00003
NM_000329.3(RPE65):c.65T>C (p.Leu22Pro)	rs61751277	0.00003
NM_000329.3(RPE65):c.952T>A (p.Tyr318Asn)	rs61752905	0.00003
NM_000352.6(ABCC8):c.1407A>C (p.Leu469=)	rs751643248	0.00003
NM_000352.6(ABCC8):c.1484G>A (p.Arg495Gln)	rs1420601296	0.00003
NM_000352.6(ABCC8):c.2235C>T (p.Ser745=)	rs200708414	0.00003
NM_000352.6(ABCC8):c.2797C>T (p.Arg933Ter)	rs570388861	0.00003
NM_000352.6(ABCC8):c.3439C>T (p.Leu1147=)	rs372257088	0.00003
NM_000352.6(ABCC8):c.3558-7G>A	rs900191703	0.00003
NM_000352.6(ABCC8):c.3918C>G (p.Leu1306=)	rs372186045	0.00003
NM_000352.6(ABCC8):c.4178G>A (p.Arg1393His)	rs769279368	0.00003
NM_000352.6(ABCC8):c.4198G>A (p.Gly1400Arg)	rs137852676	0.00003
NM_000352.6(ABCC8):c.4259G>A (p.Arg1420His)	rs1272388614	0.00003
NM_000352.6(ABCC8):c.495G>A (p.Ser165=)	rs369136858	0.00003
NM_000352.6(ABCC8):c.916C>T (p.Arg306Cys)	rs751228166	0.00003
NM_000359.3(TGM1):c.1469A>G (p.Asp490Gly)	rs121918724	0.00003
NM_000359.3(TGM1):c.1631A>G (p.Tyr544Cys)	rs1044429462	0.00003
NM_000359.3(TGM1):c.2337C>T (p.His779=)	rs755635993	0.00003
NM_000359.3(TGM1):c.871G>A (p.Gly291Ser)	rs1437822062	0.00003
NM_000359.3(TGM1):c.876+2T>C	rs151054393	0.00003
NM_000359.3(TGM1):c.968G>A (p.Arg323Gln)	rs121918717	0.00003
NM_000360.4(TH):c.1317C>T (p.Asp439=)	rs375440221	0.00003
NM_000360.4(TH):c.1400A>G (p.Asp467Gly)	rs771351747	0.00003
NM_000360.4(TH):c.171C>T (p.Ala57=)	rs771152796	0.00003
NM_000360.4(TH):c.225G>A (p.Glu75=)	rs558597025	0.00003
NM_000360.4(TH):c.365G>A (p.Arg122Gln)	rs201093528	0.00003
NM_000360.4(TH):c.90+13G>A	rs77140743	0.00003
NM_000370.3(TTPA):c.661C>T (p.Arg221Trp)	rs35916840	0.00003
NM_000382.3(ALDH3A2):c.551C>T (p.Thr184Met)	rs72547562	0.00003
NM_000382.3(ALDH3A2):c.943C>T (p.Pro315Ser)	rs72547571	0.00003
NM_000383.4(AIRE):c.1327G>A (p.Val443Met)	rs557522986	0.00003
NM_000383.4(AIRE):c.1347C>T (p.Cys449=)	rs367619299	0.00003
NM_000383.4(AIRE):c.1398C>T (p.Pro466=)	rs1402673356	0.00003
NM_000383.4(AIRE):c.1400+7G>C	rs781592443	0.00003
NM_000383.4(AIRE):c.1563C>T (p.Ser521=)	rs746873146	0.00003
NM_000383.4(AIRE):c.1620G>A (p.Ala540=)	rs372219460	0.00003
NM_000396.4(CTSK):c.746T>C (p.Ile249Thr)	rs199919553	0.00003
NM_000414.4(HSD17B4):c.743G>A (p.Arg248His)	rs748057401	0.00003
NM_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe)	rs375576481	0.00003
NM_000441.2(SLC26A4):c.2089+1G>A	rs727503430	0.00003
NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr)	rs542620119	0.00003
NM_000466.3(PEX1):c.1772G>A (p.Arg591Lys)	rs754337792	0.00003
NM_000466.3(PEX1):c.721del (p.Ser241fs)	rs894289737	0.00003
NM_000478.6(ALPL):c.1120G>A (p.Val374Met)	rs552831415	0.00003
NM_000478.6(ALPL):c.655A>G (p.Met219Val)	rs772432010	0.00003
NM_000481.4(AMT):c.217C>T (p.Arg73Cys)	rs386833679	0.00003
NM_000481.4(AMT):c.887G>A (p.Arg296His)	rs386833690	0.00003
NM_000487.6(ARSA):c.293C>T (p.Ser98Phe)	rs74315456	0.00003
NM_000487.6(ARSA):c.736C>T (p.Arg246Cys)	rs74315470	0.00003
NM_000489.6(ATRX):c.1257G>A (p.Ala419=)	rs185550133	0.00003
NM_000489.6(ATRX):c.2150C>T (p.Pro717Leu)	rs372617572	0.00003
NM_000489.6(ATRX):c.2225G>C (p.Ser742Thr)	rs1340328179	0.00003
NM_000489.6(ATRX):c.2696C>T (p.Thr899Met)	rs782757975	0.00003
NM_000489.6(ATRX):c.3224A>G (p.Asp1075Gly)	rs1064796745	0.00003
NM_000489.6(ATRX):c.3646A>G (p.Ile1216Val)	rs782062542	0.00003
NM_000489.6(ATRX):c.4210A>G (p.Thr1404Ala)	rs781835568	0.00003
NM_000489.6(ATRX):c.4710T>C (p.Phe1570=)	rs781829081	0.00003
NM_000489.6(ATRX):c.5073A>G (p.Gln1691=)	rs781845474	0.00003
NM_000492.4(CFTR):c.1125A>C (p.Leu375Phe)	rs73215912	0.00003
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu)	rs193922501	0.00003
NM_000492.4(CFTR):c.1679+9C>G	rs775440240	0.00003
NM_000492.4(CFTR):c.2835G>A (p.Ser945=)	rs193922513	0.00003
NM_000492.4(CFTR):c.2939T>A (p.Ile980Lys)	rs397508463	0.00003
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp)	rs202179988	0.00003
NM_000492.4(CFTR):c.4091C>T (p.Ala1364Val)	rs397508670	0.00003
NM_000498.3(CYP11B2):c.1122-4C>T	rs1361290853	0.00003
NM_000498.3(CYP11B2):c.955-10G>T	rs761292212	0.00003
NM_000517.4(HBA2):c.142G>C (p.Asp48His)	rs281864834	0.00003
NM_000518.5(HBB):c.-140C>T	rs34999973	0.00003
NM_000520.6(HEXA):c.1260G>C (p.Trp420Cys)	rs121907958	0.00003
NM_000521.4(HEXB):c.1478T>G (p.Val493Gly)	rs794727049	0.00003
NM_000521.4(HEXB):c.150C>T (p.Ala50=)	rs779421706	0.00003
NM_000521.4(HEXB):c.1510C>T (p.Pro504Ser)	rs121907985	0.00003
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys)	rs764552042	0.00003
NM_000521.4(HEXB):c.672T>C (p.Asp224=)	rs761223179	0.00003
NM_000527.5(LDLR):c.-121T>C	rs777716188	0.00003
NM_000527.5(LDLR):c.1060+9C>T	rs540073140	0.00003
NM_000527.5(LDLR):c.1247G>A (p.Arg416Gln)	rs773658037	0.00003
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)	rs144614838	0.00003
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr)	rs730882109	0.00003
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)	rs137929307	0.00003
NM_000527.5(LDLR):c.1868T>C (p.Ile623Thr)	rs141155833	0.00003
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)	rs746118995	0.00003
NM_000527.5(LDLR):c.232C>T (p.Arg78Cys)	rs370860696	0.00003
NM_000527.5(LDLR):c.2375T>C (p.Ile792Thr)	rs764493597	0.00003
NM_000527.5(LDLR):c.2388C>T (p.Ile796=)	rs543852919	0.00003
NM_000527.5(LDLR):c.292G>A (p.Gly98Ser)	rs750474121	0.00003
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)	rs121908026	0.00003
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)	rs373822756	0.00003
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter)	rs121908029	0.00003
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys)	rs768563000	0.00003
NM_000527.5(LDLR):c.82G>A (p.Glu28Lys)	rs551747280	0.00003
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys)	rs368657165	0.00003
NM_000528.4(MAN2B1):c.1A>G (p.Met1Val)	rs967834240	0.00003
NM_000528.4(MAN2B1):c.2298C>T (p.Asn766=)	rs746514019	0.00003
NM_000532.5(PCCB):c.1229G>A (p.Arg410Gln)	rs778742647	0.00003
NM_000532.5(PCCB):c.1398+1G>T	rs794727092	0.00003
NM_000532.5(PCCB):c.1514T>C (p.Ile505Thr)	rs1353542774	0.00003
NM_000532.5(PCCB):c.562G>A (p.Gly188Arg)	rs746102997	0.00003
NM_000536.4(RAG2):c.283G>A (p.Gly95Arg)	rs36001797	0.00003
NM_000543.5(SMPD1):c.1498T>C (p.Tyr500His)	rs771336819	0.00003
NM_000543.5(SMPD1):c.533T>A (p.Ile178Asn)	rs749780769	0.00003
NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser)	rs587779408	0.00003
NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro)	rs120074124	0.00003
NM_000543.5(SMPD1):c.940G>A (p.Val314Met)	rs1228068212	0.00003
NM_000642.3(AGL):c.1432G>A (p.Val478Ile)	rs527819721	0.00003
NM_000642.3(AGL):c.16C>T (p.Gln6Ter)	rs113994126	0.00003
NM_000642.3(AGL):c.2950-5T>G	rs760229683	0.00003
NM_000642.3(AGL):c.3345A>T (p.Gly1115=)	rs758265909	0.00003
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter)	rs387906244	0.00003
NM_000709.4(BCKDHA):c.137C>A (p.Ser46Ter)	rs376456598	0.00003
NM_000709.4(BCKDHA):c.288+9C>T	rs398123497	0.00003
NM_000709.4(BCKDHA):c.330A>T (p.Thr110=)	rs201366184	0.00003
NM_000709.4(BCKDHA):c.370C>T (p.Arg124Trp)	rs398123499	0.00003
NM_000709.4(BCKDHA):c.633G>A (p.Thr211=)	rs750729027	0.00003
NM_000709.4(BCKDHA):c.726T>C (p.Ser242=)	rs750023394	0.00003
NM_000709.4(BCKDHA):c.819G>T (p.Thr273=)	rs201991385	0.00003
NM_000709.4(BCKDHA):c.890G>A (p.Arg297His)	rs200137189	0.00003
NM_000784.4(CYP27A1):c.1072C>T (p.Gln358Ter)	rs533885672	0.00003
NM_000784.4(CYP27A1):c.2T>C (p.Met1Thr)	rs759003992	0.00003
NM_000784.4(CYP27A1):c.315C>T (p.His105=)	rs753981913	0.00003
NM_000784.4(CYP27A1):c.380G>A (p.Arg127Gln)	rs376230356	0.00003
NM_001003722.2(GLE1):c.241C>T (p.Gln81Ter)	rs772765696	0.00003
NM_001033855.3(DCLRE1C):c.1784dup (p.Ile596fs)	rs1190921257	0.00003
NM_001079802.2(FKTN):c.703C>A (p.Pro235Thr)	rs373418195	0.00003
NM_001126108.2(SLC12A3):c.1216A>C (p.Asn406His)	rs759532318	0.00003
NM_001126108.2(SLC12A3):c.1387G>A (p.Gly463Arg)	rs374163823	0.00003
NM_001126108.2(SLC12A3):c.1844C>T (p.Ser615Leu)	rs779160677	0.00003
NM_001126108.2(SLC12A3):c.2082C>T (p.Asn694=)	rs370145822	0.00003
NM_001126108.2(SLC12A3):c.247C>T (p.Arg83Trp)	rs201255508	0.00003
NM_001126108.2(SLC12A3):c.539C>A (p.Thr180Lys)	rs146158333	0.00003
NM_001126108.2(SLC12A3):c.938C>T (p.Ala313Val)	rs140551719	0.00003
NM_001127671.2(LIFR):c.2670+6C>G	rs898718526	0.00003
NM_001127671.2(LIFR):c.28C>T (p.Arg10Ter)	rs3729732	0.00003
NM_001130987.2(DYSF):c.3169C>T (p.Arg1057Trp)	rs760443264	0.00003
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys)	rs121908955	0.00003
NM_001130987.2(DYSF):c.797G>A (p.Gly266Glu)	rs141497053	0.00003
NM_001142800.2(EYS):c.1470C>T (p.Gly490=)	rs778161042	0.00003
NM_001142800.2(EYS):c.1999C>T (p.Arg667Cys)	rs765763663	0.00003
NM_001142800.2(EYS):c.6726-7C>T	rs886782734	0.00003
NM_001142800.2(EYS):c.7228+1G>A	rs758899480	0.00003
NM_001142800.2(EYS):c.7394C>G (p.Thr2465Ser)	rs145184183	0.00003
NM_001142800.2(EYS):c.7810C>T (p.Arg2604Cys)	rs1015857165	0.00003
NM_001142800.2(EYS):c.8163A>G (p.Gln2721=)	rs370845590	0.00003
NM_001142800.2(EYS):c.8411dup (p.Thr2805fs)	rs763028732	0.00003
NM_001142800.2(EYS):c.8834G>A (p.Gly2945Glu)	rs1161453292	0.00003
NM_001142800.2(EYS):c.9019G>T (p.Asp3007Tyr)	rs888739369	0.00003
NM_001142800.2(EYS):c.91G>A (p.Glu31Lys)	rs572189652	0.00003
NM_001142800.2(EYS):c.9317_9336del (p.Thr3106fs)	rs1326370032	0.00003
NM_001164508.2(NEB):c.10925T>C (p.Ile3642Thr)	rs201614105	0.00003
NM_001164508.2(NEB):c.11671G>A (p.Glu3891Lys)	rs753450456	0.00003
NM_001164508.2(NEB):c.11683A>G (p.Arg3895Gly)	rs1015014078	0.00003
NM_001164508.2(NEB):c.11766A>T (p.Glu3922Asp)	rs368162982	0.00003
NM_001164508.2(NEB):c.11798T>C (p.Met3933Thr)	rs772235127	0.00003
NM_001164508.2(NEB):c.11806-7C>A	rs779713133	0.00003
NM_001164508.2(NEB):c.12018+1G>A	rs762278237	0.00003
NM_001164508.2(NEB):c.1339A>G (p.Met447Val)	rs774284999	0.00003
NM_001164508.2(NEB):c.16823C>T (p.Thr5608Met)	rs200952733	0.00003
NM_001164508.2(NEB):c.16954A>G (p.Ile5652Val)	rs767425744	0.00003
NM_001164508.2(NEB):c.17129A>G (p.Lys5710Arg)	rs200501968	0.00003
NM_001164508.2(NEB):c.18074G>A (p.Arg6025His)	rs751957350	0.00003
NM_001164508.2(NEB):c.18763G>A (p.Val6255Met)	rs781706876	0.00003
NM_001164508.2(NEB):c.19082G>A (p.Ser6361Asn)	rs768390701	0.00003
NM_001164508.2(NEB):c.19214A>G (p.Tyr6405Cys)	rs368240939	0.00003
NM_001164508.2(NEB):c.19724G>A (p.Arg6575His)	rs185999504	0.00003
NM_001164508.2(NEB):c.19836C>T (p.Asp6612=)	rs371194689	0.00003
NM_001164508.2(NEB):c.20154C>T (p.Ser6718=)	rs753253128	0.00003
NM_001164508.2(NEB):c.20227C>T (p.Arg6743Cys)	rs762552898	0.00003
NM_001164508.2(NEB):c.20260G>A (p.Glu6754Lys)	rs776334631	0.00003
NM_001164508.2(NEB):c.20417T>C (p.Leu6806Pro)	rs767873861	0.00003
NM_001164508.2(NEB):c.20434A>G (p.Met6812Val)	rs370764959	0.00003
NM_001164508.2(NEB):c.20659C>T (p.Arg6887Ter)	rs749452641	0.00003
NM_001164508.2(NEB):c.20972G>A (p.Arg6991His)	rs781020561	0.00003
NM_001164508.2(NEB):c.21779A>G (p.Lys7260Arg)	rs200250294	0.00003
NM_001164508.2(NEB):c.22433G>A (p.Arg7478His)	rs767207985	0.00003
NM_001164508.2(NEB):c.22986T>C (p.His7662=)	rs149606244	0.00003
NM_001164508.2(NEB):c.23149G>C (p.Glu7717Gln)	rs766321668	0.00003
NM_001164508.2(NEB):c.23189A>G (p.Asn7730Ser)	rs775756899	0.00003
NM_001164508.2(NEB):c.23198C>T (p.Pro7733Leu)	rs372387518	0.00003
NM_001164508.2(NEB):c.23382G>A (p.Ser7794=)	rs770713773	0.00003
NM_001164508.2(NEB):c.23416C>G (p.Gln7806Glu)	rs750689059	0.00003
NM_001164508.2(NEB):c.23425C>T (p.Arg7809Trp)	rs762220487	0.00003
NM_001164508.2(NEB):c.23789C>A (p.Thr7930Asn)	rs760905651	0.00003
NM_001164508.2(NEB):c.24020C>T (p.Ser8007Leu)	rs763365852	0.00003
NM_001164508.2(NEB):c.24588C>G (p.Tyr8196Ter)	rs754272530	0.00003
NM_001164508.2(NEB):c.24649C>T (p.Arg8217Cys)	rs542275170	0.00003
NM_001164508.2(NEB):c.24671C>T (p.Ser8224Leu)	rs746031384	0.00003
NM_001164508.2(NEB):c.24707C>T (p.Pro8236Leu)	rs571935637	0.00003
NM_001164508.2(NEB):c.25009G>A (p.Val8337Ile)	rs377336846	0.00003
NM_001164508.2(NEB):c.25162C>T (p.Arg8388Cys)	rs371600800	0.00003
NM_001164508.2(NEB):c.25184G>A (p.Arg8395Gln)	rs779983347	0.00003
NM_001164508.2(NEB):c.2921G>A (p.Arg974Gln)	rs368642083	0.00003
NM_001164508.2(NEB):c.3246G>A (p.Ala1082=)	rs372664114	0.00003
NM_001164508.2(NEB):c.3571G>A (p.Val1191Ile)	rs767493706	0.00003
NM_001164508.2(NEB):c.3759G>A (p.Thr1253=)	rs763075598	0.00003
NM_001164508.2(NEB):c.4166G>A (p.Ser1389Asn)	rs534646949	0.00003
NM_001164508.2(NEB):c.448G>A (p.Val150Ile)	rs376288418	0.00003
NM_001164508.2(NEB):c.5121A>G (p.Ala1707=)	rs371962475	0.00003
NM_001164508.2(NEB):c.5182G>A (p.Ala1728Thr)	rs371639863	0.00003
NM_001164508.2(NEB):c.5623A>G (p.Met1875Val)	rs201940342	0.00003
NM_001164508.2(NEB):c.5828T>C (p.Leu1943Pro)	rs531692437	0.00003
NM_001164508.2(NEB):c.5854A>G (p.Met1952Val)	rs200649387	0.00003
NM_001164508.2(NEB):c.6067A>G (p.Met2023Val)	rs779481792	0.00003
NM_001164508.2(NEB):c.6244G>A (p.Glu2082Lys)	rs372667149	0.00003
NM_001164508.2(NEB):c.6400A>G (p.Asn2134Asp)	rs751935179	0.00003
NM_001164508.2(NEB):c.6449C>T (p.Ala2150Val)	rs375256600	0.00003
NM_001164508.2(NEB):c.7252T>A (p.Trp2418Arg)	rs780437384	0.00003
NM_001164508.2(NEB):c.7623C>T (p.Ala2541=)	rs371570995	0.00003
NM_001164508.2(NEB):c.7627C>T (p.Arg2543Trp)	rs368148074	0.00003
NM_001164508.2(NEB):c.7860C>T (p.Ser2620=)	rs753267809	0.00003
NM_001164508.2(NEB):c.8738T>C (p.Ile2913Thr)	rs368373064	0.00003
NM_001164508.2(NEB):c.8873C>T (p.Ala2958Val)	rs768058972	0.00003
NM_001164508.2(NEB):c.9743A>G (p.Asn3248Ser)	rs139548702	0.00003
NM_001164508.2(NEB):c.9769G>A (p.Asp3257Asn)	rs780275367	0.00003
NM_001173990.3(TMEM216):c.398T>G (p.Leu133Ter)	rs755459875	0.00003
NM_001243279.3(ACSF3):c.1524G>A (p.Pro508=)	rs375187216	0.00003
NM_001243279.3(ACSF3):c.1535G>A (p.Trp512Ter)	rs1450563045	0.00003
NM_001243279.3(ACSF3):c.1721dup (p.His574fs)	rs768886326	0.00003
NM_001352514.2(HLCS):c.1960+5G>A	rs753887925	0.00003
NM_001352514.2(HLCS):c.2121+1G>A	rs1175936807	0.00003
NM_001352514.2(HLCS):c.2182G>A (p.Gly728Ser)	rs119103230	0.00003
NM_001352514.2(HLCS):c.918A>G (p.Gly306=)	rs767988985	0.00003
NM_001360.3(DHCR7):c.111G>A (p.Trp37Ter)	rs750345068	0.00003
NM_001360.3(DHCR7):c.1342G>A (p.Glu448Lys)	rs80338864	0.00003
NM_001360.3(DHCR7):c.1389C>T (p.Thr463=)	rs200477386	0.00003
NM_001360.3(DHCR7):c.3G>A (p.Met1Ile)	rs121909767	0.00003
NM_001360.3(DHCR7):c.461C>G (p.Thr154Arg)	rs143312232	0.00003
NM_001360.3(DHCR7):c.546G>A (p.Trp182Ter)	rs1032242817	0.00003
NM_001360.3(DHCR7):c.725G>A (p.Arg242His)	rs80338857	0.00003
NM_001365088.1(SLC12A6):c.2385C>T (p.Val795=)	rs562984167	0.00003
NM_001369.3(DNAH5):c.10615C>T (p.Arg3539Cys)	rs1304504006	0.00003
NM_001369.3(DNAH5):c.10774A>C (p.Ile3592Leu)	rs758395320	0.00003
NM_001369.3(DNAH5):c.11438G>A (p.Arg3813Gln)	rs143612682	0.00003
NM_001369.3(DNAH5):c.11533C>T (p.Arg3845Cys)	rs565819640	0.00003
NM_001369.3(DNAH5):c.11583C>A (p.Ser3861Arg)	rs576096758	0.00003
NM_001369.3(DNAH5):c.12209C>T (p.Thr4070Ile)	rs746662023	0.00003
NM_001369.3(DNAH5):c.12727C>T (p.Arg4243Cys)	rs150357258	0.00003
NM_001369.3(DNAH5):c.1730G>C (p.Arg577Thr)	rs397515541	0.00003
NM_001369.3(DNAH5):c.1810T>C (p.Ser604Pro)	rs769275003	0.00003
NM_001369.3(DNAH5):c.349G>A (p.Glu117Lys)	rs116128702	0.00003
NM_001369.3(DNAH5):c.3905del (p.Leu1302fs)	rs754698253	0.00003
NM_001369.3(DNAH5):c.4116G>C (p.Gln1372His)	rs139463637	0.00003
NM_001369.3(DNAH5):c.4319A>C (p.Glu1440Ala)	rs147322363	0.00003
NM_001369.3(DNAH5):c.4355+5G>A	rs774366812	0.00003
NM_001369.3(DNAH5):c.46C>T (p.Arg16Ter)	rs772230378	0.00003
NM_001369.3(DNAH5):c.4972A>G (p.Ile1658Val)	rs535557021	0.00003
NM_001369.3(DNAH5):c.5503C>T (p.Gln1835Ter)	rs761622153	0.00003
NM_001369.3(DNAH5):c.5710-2A>G	rs548521732	0.00003
NM_001369.3(DNAH5):c.6217A>G (p.Met2073Val)	rs752077073	0.00003
NM_001369.3(DNAH5):c.6444+1G>A	rs781236248	0.00003
NM_001369.3(DNAH5):c.660+10A>G	rs750383077	0.00003
NM_001369.3(DNAH5):c.6859C>T (p.Arg2287Trp)	rs747326567	0.00003
NM_001369.3(DNAH5):c.7688T>G (p.Leu2563Arg)	rs187551830	0.00003
NM_001369.3(DNAH5):c.7823A>T (p.Asp2608Val)	rs189971831	0.00003
NM_001369.3(DNAH5):c.8190G>A (p.Thr2730=)	rs752656841	0.00003
NM_001369.3(DNAH5):c.8821-7A>G	rs776228125	0.00003
NM_001370658.1(BTD):c.1177G>A (p.Gly393Ser)	rs374141881	0.00003
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn)	rs397514367	0.00003
NM_001370658.1(BTD):c.535G>A (p.Val179Met)	rs397514375	0.00003
NM_001370658.1(BTD):c.572G>A (p.Arg191His)	rs112195009	0.00003
NM_001370658.1(BTD):c.581A>G (p.Asn194Ser)	rs397514377	0.00003
NM_001370658.1(BTD):c.908A>G (p.His303Arg)	rs397507176	0.00003
NM_001378454.1(ALMS1):c.11669-2A>G	rs952110960	0.00003
NM_001378454.1(ALMS1):c.2103A>C (p.Pro701=)	rs750362630	0.00003
NM_001378454.1(ALMS1):c.5765T>C (p.Val1922Ala)	rs761428155	0.00003
NM_001378454.1(ALMS1):c.9386dup (p.Pro3130fs)	rs1361923069	0.00003
NM_001384474.1(LOXHD1):c.2497C>T (p.Arg833Ter)	rs188119157	0.00003
NM_001384474.1(LOXHD1):c.442A>T (p.Lys148Ter)	rs886044666	0.00003
NM_001384474.1(LOXHD1):c.71del (p.Leu24fs)	rs775267638	0.00003
NM_001386140.1(MTTP):c.1619G>A (p.Arg540His)	rs199422220	0.00003
NM_001399.5(EDA):c.1014G>A (p.Thr338=)	rs750674219	0.00003
NM_001673.5(ASNS):c.146G>A (p.Arg49Gln)	rs769236847	0.00003
NM_001673.5(ASNS):c.478del (p.Glu160fs)	rs797045307	0.00003
NM_001875.5(CPS1):c.1145C>T (p.Pro382Leu)	rs201407486	0.00003
NM_001875.5(CPS1):c.3472G>A (p.Val1158Ile)	rs555151297	0.00003
NM_001876.4(CPT1A):c.1518C>T (p.Gly506=)	rs573112017	0.00003
NM_002225.5(IVD):c.1174C>T (p.Arg392Cys)	rs371427844	0.00003
NM_002225.5(IVD):c.1175G>A (p.Arg392His)	rs982218848	0.00003
NM_002225.5(IVD):c.264C>T (p.Gly88=)	rs377199313	0.00003
NM_002225.5(IVD):c.851G>A (p.Arg284Gln)	rs373534546	0.00003
NM_002435.3(MPI):c.1193T>C (p.Ile398Thr)	rs369326210	0.00003
NM_002435.3(MPI):c.884G>A (p.Arg295His)	rs28928906	0.00003
NM_002485.5(NBN):c.1089C>T (p.Tyr363=)	rs121908974	0.00003
NM_002485.5(NBN):c.1912T>C (p.Ser638Pro)	rs199657566	0.00003
NM_002529.4(NTRK1):c.1354+1G>T	rs764771898	0.00003
NM_002529.4(NTRK1):c.1778G>A (p.Arg593Gln)	rs748133401	0.00003
NM_002529.4(NTRK1):c.1796G>A (p.Arg599His)	rs775718859	0.00003
NM_002529.4(NTRK1):c.219C>T (p.Ile73=)	rs563296138	0.00003
NM_002529.4(NTRK1):c.2338C>T (p.Arg780Trp)	rs537948663	0.00003
NM_002529.4(NTRK1):c.808G>A (p.Asp270Asn)	rs145222195	0.00003
NM_002529.4(NTRK1):c.954T>C (p.Asn318=)	rs769539870	0.00003
NM_003060.4(SLC22A5):c.1053-2A>C	rs777004046	0.00003
NM_003060.4(SLC22A5):c.1202dup (p.Tyr401Ter)	rs121908887	0.00003
NM_003060.4(SLC22A5):c.131C>T (p.Ala44Val)	rs199689597	0.00003
NM_003060.4(SLC22A5):c.1403C>A (p.Thr468Lys)	rs386134221	0.00003
NM_003060.4(SLC22A5):c.424G>T (p.Ala142Ser)	rs151231558	0.00003
NM_003060.4(SLC22A5):c.453G>A (p.Val151=)	rs386134194	0.00003
NM_003060.4(SLC22A5):c.506G>A (p.Arg169Gln)	rs121908889	0.00003
NM_003060.4(SLC22A5):c.696G>A (p.Thr232=)	rs748677211	0.00003
NM_003384.3(VRK1):c.356A>G (p.His119Arg)	rs371295780	0.00003
NM_003640.5(ELP1):c.4C>T (p.Arg2Ter)	rs926177767	0.00003
NM_003742.4(ABCB11):c.1160G>A (p.Arg387His)	rs372784355	0.00003
NM_003742.4(ABCB11):c.1708G>A (p.Ala570Thr)	rs886043807	0.00003
NM_003742.4(ABCB11):c.3411+10G>A	rs188996270	0.00003
NM_003907.3(EIF2B5):c.1914C>T (p.Arg638=)	rs751446315	0.00003
NM_003982.4(SLC7A7):c.1402C>T (p.Arg468Ter)	rs386833807	0.00003
NM_003982.4(SLC7A7):c.1494T>C (p.Asp498=)	rs765682604	0.00003
NM_004004.6(GJB2):c.134G>A (p.Gly45Glu)	rs72561723	0.00003
NM_004004.6(GJB2):c.298C>T (p.His100Tyr)	rs143343083	0.00003
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr)	rs111033217	0.00003
NM_004004.6(GJB2):c.476A>T (p.Asp159Val)	rs28931592	0.00003
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs)	rs773528125	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_004006.3(DMD):c.1812+1G>A	rs373286166	0.00003
NM_004006.3(DMD):c.4421G>C (p.Ser1474Thr)	rs398123956	0.00003
NM_004035.7(ACOX1):c.1068C>T (p.Asn356=)	rs374533122	0.00003
NM_004035.7(ACOX1):c.1944A>G (p.Glu648=)	rs374691393	0.00003
NM_004035.7(ACOX1):c.825C>T (p.Tyr275=)	rs542159010	0.00003
NM_004453.4(ETFDH):c.1448C>T (p.Pro483Leu)	rs377656387	0.00003
NM_004453.4(ETFDH):c.1773_1774del (p.Thr591_Cys592insTer)	rs767795266	0.00003
NM_004453.4(ETFDH):c.405+3A>T	rs796051965	0.00003
NM_004646.4(NPHS1):c.1647G>C (p.Thr549=)	rs371484897	0.00003
NM_004646.4(NPHS1):c.1701C>A (p.Cys567Ter)	rs386833887	0.00003
NM_004646.4(NPHS1):c.2728T>C (p.Ser910Pro)	rs143649022	0.00003
NM_004937.3(CTNS):c.621C>T (p.Phe207=)	rs749428707	0.00003
NM_005373.3(MPL):c.1422G>A (p.Trp474Ter)	rs754859909	0.00003
NM_005373.3(MPL):c.1609C>T (p.Arg537Trp)	rs148784027	0.00003
NM_005476.7(GNE):c.1485G>A (p.Trp495Ter)	rs1212623980	0.00003
NM_005476.7(GNE):c.1844C>G (p.Ser615Ter)	rs757523840	0.00003
NM_005476.7(GNE):c.673G>A (p.Asp225Asn)	rs121908630	0.00003
NM_005476.7(GNE):c.80C>T (p.Pro27Leu)	rs1236647498	0.00003
NM_005476.7(GNE):c.916C>T (p.Arg306Ter)	rs1057516374	0.00003
NM_005609.4(PYGM):c.1190T>C (p.Leu397Pro)	rs1005687078	0.00003
NM_005609.4(PYGM):c.1345G>A (p.Gly449Arg)	rs769172044	0.00003
NM_005609.4(PYGM):c.2143C>T (p.Arg715Trp)	rs780656375	0.00003
NM_005609.4(PYGM):c.2312G>A (p.Arg771Gln)	rs150911354	0.00003
NM_005609.4(PYGM):c.2352C>A (p.Cys784Ter)	rs1057517001	0.00003
NM_005609.4(PYGM):c.2412G>A (p.Arg804=)	rs199927544	0.00003
NM_005609.4(PYGM):c.481C>T (p.Arg161Cys)	rs200038732	0.00003
NM_005609.4(PYGM):c.527A>C (p.Gln176Pro)	rs747495987	0.00003
NM_005629.4(SLC6A8):c.1285C>G (p.Leu429Val)	rs782551106	0.00003
NM_005726.6(TSFM):c.934C>T (p.Arg312Trp)	rs121909485	0.00003
NM_005957.5(MTHFR):c.137G>A (p.Arg46Gln)	rs776483190	0.00003
NM_005957.5(MTHFR):c.548G>A (p.Arg183Gln)	rs574132670	0.00003
NM_006118.4(HAX1):c.36C>G (p.Gly12=)	rs201477841	0.00003
NM_006493.4(CLN5):c.420A>G (p.Gln140=)	rs753732321	0.00003
NM_006493.4(CLN5):c.486C>T (p.Gly162=)	rs769007858	0.00003
NM_006493.4(CLN5):c.935T>C (p.Phe312Ser)	rs201767993	0.00003
NM_006623.4(PHGDH):c.1078+10G>T	rs374994783	0.00003
NM_012144.4(DNAI1):c.1109T>C (p.Leu370Pro)	rs201677978	0.00003
NM_012144.4(DNAI1):c.119A>G (p.Asp40Gly)	rs553371109	0.00003
NM_012144.4(DNAI1):c.1222G>A (p.Val408Met)	rs794727103	0.00003
NM_012144.4(DNAI1):c.1543G>A (p.Gly515Ser)	rs79833450	0.00003
NM_012144.4(DNAI1):c.1599C>T (p.Leu533=)	rs150785761	0.00003
NM_012144.4(DNAI1):c.1703G>C (p.Trp568Ser)	rs772686744	0.00003
NM_012144.4(DNAI1):c.994C>A (p.Arg332Ser)	rs182015909	0.00003
NM_012203.2(GRHPR):c.905G>A (p.Arg302His)	rs180177323	0.00003
NM_012434.5(SLC17A5):c.43G>T (p.Glu15Ter)	rs727504157	0.00003
NM_012434.5(SLC17A5):c.804A>G (p.Ser268=)	rs750559102	0.00003
NM_013339.4(ALG6):c.1249del (p.Gln417fs)	rs771069984	0.00003
NM_013339.4(ALG6):c.52C>T (p.Arg18Ter)	rs755933716	0.00003
NM_014049.5(ACAD9):c.1832A>G (p.Tyr611Cys)	rs1057523761	0.00003
NM_014140.4(SMARCAL1):c.1069T>A (p.Phe357Ile)	rs369180164	0.00003
NM_014140.4(SMARCAL1):c.1761C>T (p.Pro587=)	rs781340148	0.00003
NM_014140.4(SMARCAL1):c.2534T>A (p.Leu845Gln)	rs372298863	0.00003
NM_014140.4(SMARCAL1):c.888G>A (p.Thr296=)	rs140707035	0.00003
NM_014244.5(ADAMTS2):c.2835G>A (p.Pro945=)	rs768390657	0.00003
NM_014244.5(ADAMTS2):c.3303C>T (p.Asn1101=)	rs766731589	0.00003
NM_014244.5(ADAMTS2):c.891+9G>A	rs749508251	0.00003
NM_014249.4(NR2E3):c.226C>T (p.Arg76Trp)	rs104894492	0.00003
NM_014249.4(NR2E3):c.229C>T (p.Arg77Trp)	rs779903522	0.00003
NM_014249.4(NR2E3):c.245+9G>A	rs538864090	0.00003
NM_014249.4(NR2E3):c.305C>A (p.Ala102Asp)	rs772881093	0.00003
NM_014252.4(SLC25A15):c.337G>A (p.Gly113Ser)	rs199894905	0.00003
NM_014363.6(SACS):c.7497C>T (p.Val2499=)	rs774558627	0.00003
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter)	rs202199411	0.00003
NM_014844.5(TECPR2):c.1203C>T (p.Ser401=)	rs759378757	0.00003
NM_015166.4(MLC1):c.423+1G>A	rs752428321	0.00003
NM_015166.4(MLC1):c.449_455del (p.Leu150fs)	rs1057517090	0.00003
NM_015506.3(MMACHC):c.495G>A (p.Leu165=)	rs761111018	0.00003
NM_015506.3(MMACHC):c.566G>A (p.Arg189His)	rs761221416	0.00003
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys)	rs118204046	0.00003
NM_016955.4(SEPSECS):c.1393C>T (p.Arg465Ter)	rs773969315	0.00003
NM_017739.4(POMGNT1):c.1769G>A (p.Trp590Ter)	rs386834019	0.00003
NM_017777.4(MKS1):c.1600C>T (p.Arg534Ter)	rs772719574	0.00003
NM_017882.3(CLN6):c.13C>T (p.Arg5Trp)	rs886285802	0.00003
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser)	rs764571295	0.00003
NM_018941.4(CLN8):c.288G>A (p.Ala96=)	rs533351136	0.00003
NM_018941.4(CLN8):c.470A>G (p.His157Arg)	rs149308952	0.00003
NM_018941.4(CLN8):c.582G>A (p.Gln194=)	rs139824802	0.00003
NM_018941.4(CLN8):c.661G>A (p.Gly221Ser)	rs386834136	0.00003
NM_020320.5(RARS2):c.419T>G (p.Phe140Cys)	rs772887102	0.00003
NM_020533.3(MCOLN1):c.304C>T (p.Arg102Ter)	rs121908373	0.00003
NM_020533.3(MCOLN1):c.920del (p.Leu307fs)	rs755042147	0.00003
NM_022132.5(MCCC2):c.518C>T (p.Ser173Leu)	rs752866557	0.00003
NM_022132.5(MCCC2):c.568C>T (p.His190Tyr)	rs773774134	0.00003
NM_022132.5(MCCC2):c.577C>T (p.Arg193Cys)	rs547662164	0.00003
NM_023036.6(DNAI2):c.1260G>A (p.Pro420=)	rs200043910	0.00003
NM_023036.6(DNAI2):c.290G>A (p.Arg97Gln)	rs775926673	0.00003
NM_023036.6(DNAI2):c.317A>T (p.Tyr106Phe)	rs761389658	0.00003
NM_023036.6(DNAI2):c.685T>G (p.Ser229Ala)	rs576683556	0.00003
NM_024312.5(GNPTAB):c.1155A>C (p.Ser385=)	rs754258764	0.00003
NM_024649.5(BBS1):c.1338C>T (p.Thr446=)	rs368302072	0.00003
NM_024649.5(BBS1):c.1339G>A (p.Ala447Thr)	rs200116631	0.00003
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln)	rs376894444	0.00003
NM_024649.5(BBS1):c.840G>C (p.Lys280Asn)	rs780169168	0.00003
NM_024685.4(BBS10):c.462G>A (p.Leu154=)	rs764687344	0.00003
NM_024996.7(GFM1):c.1823G>A (p.Arg608Gln)	rs541171482	0.00003
NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter)	rs147030232	0.00003
NM_031885.5(BBS2):c.311A>C (p.Asp104Ala)	rs121908179	0.00003
NM_031885.5(BBS2):c.401C>G (p.Pro134Arg)	rs376306240	0.00003
NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter)	rs121908175	0.00003
NM_031885.5(BBS2):c.943C>T (p.Arg315Trp)	rs121908178	0.00003
NM_032520.5(GNPTG):c.42C>T (p.Leu14=)	rs776361173	0.00003
NM_033305.3(VPS13A):c.5725T>C (p.Leu1909=)	rs139817600	0.00003
NM_033305.3(VPS13A):c.6404dup (p.Ser2136fs)	rs951347128	0.00003
NM_033305.3(VPS13A):c.7214T>G (p.Leu2405Ter)	rs919186738	0.00003
NM_033305.3(VPS13A):c.9109C>T (p.Arg3037Ter)	rs199807227	0.00003
NM_033380.3(COL4A5):c.2998G>A (p.Gly1000Arg)	rs2067110688	0.00003
NM_052845.4(MMAB):c.732G>A (p.Ser244=)	rs186864802	0.00003
NM_054012.4(ASS1):c.1069C>T (p.Gln357Ter)	rs756859126	0.00003
NM_054012.4(ASS1):c.1083C>T (p.Leu361=)	rs78564724	0.00003
NM_054012.4(ASS1):c.571G>A (p.Glu191Lys)	rs777828000	0.00003
NM_054012.4(ASS1):c.970G>A (p.Gly324Ser)	rs121908639	0.00003
NM_130849.4(SLC39A4):c.594C>T (p.Ala198=)	rs782355343	0.00003
NM_133259.4(LRPPRC):c.114C>T (p.Ser38=)	rs886056063	0.00003
NM_133259.4(LRPPRC):c.3641A>G (p.Gln1214Arg)	rs140482502	0.00003
NM_138413.4(HOGA1):c.763C>T (p.Arg255Ter)	rs796052086	0.00003
NM_138413.4(HOGA1):c.812G>A (p.Arg271His)	rs750974539	0.00003
NM_138413.4(HOGA1):c.943_954dup (p.Glu315_Arg318dup)	rs777828182	0.00003
NM_138694.4(PKHD1):c.10136del (p.Thr3379fs)	rs765209037	0.00003
NM_138694.4(PKHD1):c.1123C>T (p.Arg375Trp)	rs376040501	0.00003
NM_138694.4(PKHD1):c.11611T>C (p.Trp3871Arg)	rs754626014	0.00003
NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu)	rs758352210	0.00003
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala)	rs199568593	0.00003
NM_138694.4(PKHD1):c.3367G>A (p.Gly1123Ser)	rs142107837	0.00003
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu)	rs367707903	0.00003
NM_138694.4(PKHD1):c.353del (p.Ser118fs)	rs398124483	0.00003
NM_138694.4(PKHD1):c.4845G>A (p.Thr1615=)	rs750233738	0.00003
NM_138694.4(PKHD1):c.6046A>T (p.Ser2016Cys)	rs1413693039	0.00003
NM_138694.4(PKHD1):c.7430T>G (p.Phe2477Cys)	rs1366295189	0.00003
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter)	rs181208607	0.00003
NM_138694.4(PKHD1):c.9107T>G (p.Val3036Gly)	rs893497345	0.00003
NM_138694.4(PKHD1):c.9338del (p.Ser3113fs)	rs1388716999	0.00003
NM_138694.4(PKHD1):c.983G>A (p.Arg328Gln)	rs770494581	0.00003
NM_152419.3(HGSNAT):c.1031G>A (p.Arg344His)	rs766835582	0.00003
NM_152564.5(VPS13B):c.10890T>C (p.Asp3630=)	rs773474909	0.00003
NM_152564.5(VPS13B):c.11044+5C>T	rs764708878	0.00003
NM_152564.5(VPS13B):c.1121C>T (p.Thr374Ile)	rs753781360	0.00003
NM_152564.5(VPS13B):c.8448T>C (p.Ile2816=)	rs763701016	0.00003
NM_152564.5(VPS13B):c.9573A>G (p.Ala3191=)	rs189680814	0.00003
NM_152618.3(BBS12):c.1574G>A (p.Arg525His)	rs776730549	0.00003
NM_152618.3(BBS12):c.476C>T (p.Pro159Leu)	rs1450190654	0.00003
NM_153676.4(USH1C):c.121G>A (p.Val41Met)	rs780439529	0.00003
NM_153717.3(EVC):c.175-2A>G	rs767186464	0.00003
NM_172250.3(MMAA):c.658G>A (p.Val220Met)	rs150376474	0.00003
NM_182760.4(SUMF1):c.1035C>T (p.Arg345=)	rs777799002	0.00003
NM_182760.4(SUMF1):c.602+1G>A	rs143616931	0.00003
NM_182760.4(SUMF1):c.690G>A (p.Glu230=)	rs1469354700	0.00003
NM_182760.4(SUMF1):c.817G>A (p.Asp273Asn)	rs769349880	0.00003
NM_183050.4(BCKDHB):c.33_34del (p.Leu12fs)	rs398124572	0.00003
NM_201525.4(ADGRG1):c.1675C>T (p.Arg559Trp)	rs121908464	0.00003
NM_201548.5(CERKL):c.222del (p.Gln74fs)	rs1476585944	0.00003
NM_206933.4(USH2A):c.1000C>T (p.Arg334Trp)	rs397517963	0.00003
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys)	rs750396156	0.00003
NM_206933.4(USH2A):c.3532C>G (p.Pro1178Ala)	rs372081834	0.00003
NM_206933.4(USH2A):c.5167G>C (p.Gly1723Arg)	rs1342455785	0.00003
NM_206933.4(USH2A):c.7595-3C>G	rs201657446	0.00003
NM_206933.4(USH2A):c.8740C>T (p.Arg2914Ter)	rs766590491	0.00003
NM_206933.4(USH2A):c.949C>A (p.Arg317=)	rs111033272	0.00003
NM_206933.4(USH2A):c.9571-2A>G	rs751111524	0.00003
NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu)	rs764182950	0.00003
NM_213653.4(HJV):c.665T>A (p.Ile222Asn)	rs74315325	0.00003
NM_000016.6(ACADM):c.1125A>G (p.Ile375Met)	rs201809827	0.00002
NM_000016.6(ACADM):c.1237C>T (p.Arg413Cys)	rs139686925	0.00002
NM_000016.6(ACADM):c.134A>G (p.Gln45Arg)	rs757434857	0.00002
NM_000016.6(ACADM):c.157C>T (p.Arg53Cys)	rs398123072	0.00002
NM_000016.6(ACADM):c.158G>A (p.Arg53His)	rs754938068	0.00002
NM_000016.6(ACADM):c.234T>G (p.Ile78Met)	rs1158457053	0.00002
NM_000016.6(ACADM):c.238A>G (p.Arg80Gly)	rs758476299	0.00002
NM_000016.6(ACADM):c.617G>A (p.Arg206His)	rs200724875	0.00002
NM_000016.6(ACADM):c.653C>G (p.Ala218Gly)	rs764268346	0.00002
NM_000016.6(ACADM):c.668T>C (p.Ile223Thr)	rs758111285	0.00002
NM_000016.6(ACADM):c.757G>A (p.Glu253Lys)	rs768884003	0.00002
NM_000016.6(ACADM):c.866T>C (p.Val289Ala)	rs1057520215	0.00002
NM_000016.6(ACADM):c.881G>C (p.Arg294Thr)	rs779759347	0.00002
NM_000016.6(ACADM):c.946-6T>G	rs765793260	0.00002
NM_000016.6(ACADM):c.984del (p.Met328fs)	rs747610156	0.00002
NM_000018.4(ACADVL):c.1077G>A (p.Ala359=)	rs779458466	0.00002
NM_000018.4(ACADVL):c.1154G>A (p.Arg385Gln)	rs772014118	0.00002
NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp)	rs2309689	0.00002
NM_000018.4(ACADVL):c.1358G>A (p.Arg453Gln)	rs138058572	0.00002
NM_000018.4(ACADVL):c.1366C>T (p.Arg456Cys)	rs794727111	0.00002
NM_000018.4(ACADVL):c.685C>T (p.Arg229Ter)	rs786204536	0.00002
NM_000018.4(ACADVL):c.790A>G (p.Lys264Glu)	rs1231343685	0.00002
NM_000018.4(ACADVL):c.881_884dup (p.Pro296fs)	rs766192888	0.00002
NM_000018.4(ACADVL):c.963C>T (p.Asn321=)	rs568118142	0.00002
NM_000019.4(ACAT1):c.1124A>G (p.Asn375Ser)	rs373771053	0.00002
NM_000019.4(ACAT1):c.547G>A (p.Gly183Arg)	rs120074141	0.00002
NM_000022.4(ADA):c.454C>A (p.Leu152Met)	rs121908728	0.00002
NM_000022.4(ADA):c.529G>A (p.Val177Met)	rs121908719	0.00002
NM_000022.4(ADA):c.704G>A (p.Arg235Gln)	rs79281338	0.00002
NM_000022.4(ADA):c.911T>G (p.Leu304Arg)	rs199422327	0.00002
NM_000023.4(SGCA):c.100C>T (p.Arg34Cys)	rs758647756	0.00002
NM_000023.4(SGCA):c.242G>A (p.Arg81His)	rs747984529	0.00002
NM_000027.4(AGA):c.503G>A (p.Trp168Ter)	rs386833430	0.00002
NM_000030.3(AGXT):c.106C>T (p.Arg36Cys)	rs180177157	0.00002
NM_000030.3(AGXT):c.245G>A (p.Gly82Glu)	rs121908522	0.00002
NM_000030.3(AGXT):c.346G>A (p.Gly116Arg)	rs180177207	0.00002
NM_000030.3(AGXT):c.653C>T (p.Ser218Leu)	rs180177253	0.00002
NM_000033.4(ABCD1):c.1053C>T (p.Ile351=)	rs1887821307	0.00002
NM_000033.4(ABCD1):c.1326C>T (p.Asp442=)	rs782419455	0.00002
NM_000033.4(ABCD1):c.1327G>A (p.Ala443Thr)	rs782647014	0.00002
NM_000033.4(ABCD1):c.1367G>A (p.Arg456His)	rs782159028	0.00002
NM_000033.4(ABCD1):c.1526A>G (p.Asn509Ser)	rs782158792	0.00002
NM_000033.4(ABCD1):c.1747G>A (p.Val583Met)	rs1569541120	0.00002
NM_000033.4(ABCD1):c.208G>A (p.Val70Ile)	rs782701925	0.00002
NM_000033.4(ABCD1):c.386C>A (p.Ala129Asp)	rs782359412	0.00002
NM_000033.4(ABCD1):c.515G>A (p.Arg172His)	rs541171928	0.00002
NM_000033.4(ABCD1):c.809C>T (p.Ala270Val)	rs781970988	0.00002
NM_000035.4(ALDOB):c.255C>T (p.Tyr85=)	rs761063847	0.00002
NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr)	rs118203941	0.00002
NM_000046.5(ARSB):c.723G>A (p.Val241=)	rs199858121	0.00002
NM_000046.5(ARSB):c.76C>T (p.Leu26=)	rs1220314595	0.00002
NM_000048.4(ASL):c.1154G>A (p.Arg385His)	rs746120802	0.00002
NM_000048.4(ASL):c.243G>C (p.Leu81=)	rs774204716	0.00002
NM_000048.4(ASL):c.338G>A (p.Arg113Gln)	rs752783461	0.00002
NM_000048.4(ASL):c.376C>T (p.Arg126Trp)	rs201962738	0.00002
NM_000048.4(ASL):c.377G>A (p.Arg126Gln)	rs777235530	0.00002
NM_000048.4(ASL):c.507G>C (p.Trp169Cys)	rs759952363	0.00002
NM_000048.4(ASL):c.62T>C (p.Met21Thr)	rs774392615	0.00002
NM_000048.4(ASL):c.919-4G>A	rs756230523	0.00002
NM_000049.4(ASPA):c.237-2A>T	rs780936696	0.00002
NM_000049.4(ASPA):c.820G>A (p.Gly274Arg)	rs761064915	0.00002
NM_000049.4(ASPA):c.838C>T (p.Pro280Ser)	rs750505963	0.00002
NM_000051.4(ATM):c.1271C>A (p.Pro424His)	rs147472613	0.00002
NM_000051.4(ATM):c.2638+6T>C	rs768305533	0.00002
NM_000051.4(ATM):c.3256C>T (p.Arg1086Cys)	rs201780199	0.00002
NM_000051.4(ATM):c.3449G>C (p.Arg1150Thr)	rs555219189	0.00002
NM_000051.4(ATM):c.5612C>T (p.Thr1871Ile)	rs538452060	0.00002
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr)	rs148064985	0.00002
NM_000051.4(ATM):c.6396A>G (p.Leu2132=)	rs370537345	0.00002
NM_000051.4(ATM):c.660G>A (p.Ala220=)	rs763669136	0.00002
NM_000051.4(ATM):c.7370A>C (p.Glu2457Ala)	rs778482902	0.00002
NM_000051.4(ATM):c.7739G>A (p.Arg2580Lys)	rs761790685	0.00002
NM_000051.4(ATM):c.8786+1G>A	rs17174393	0.00002
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys)	rs587782292	0.00002
NM_000051.4(ATM):c.9119T>C (p.Ile3040Thr)	rs369870357	0.00002
NM_000052.7(ATP7A):c.3736A>G (p.Met1246Val)	rs1385333276	0.00002
NM_000052.7(ATP7A):c.4356G>C (p.Leu1452Phe)	rs782364202	0.00002
NM_000053.4(ATP7B):c.1830G>A (p.Pro610=)	rs375689672	0.00002
NM_000053.4(ATP7B):c.2072G>T (p.Gly691Val)	rs1555291801	0.00002
NM_000053.4(ATP7B):c.2374C>T (p.Leu792=)	rs757244072	0.00002
NM_000053.4(ATP7B):c.2668G>A (p.Val890Met)	rs786204718	0.00002
NM_000053.4(ATP7B):c.2712A>G (p.Glu904=)	rs146232015	0.00002
NM_000053.4(ATP7B):c.2828G>A (p.Gly943Asp)	rs779323689	0.00002
NM_000053.4(ATP7B):c.2984T>C (p.Val995Ala)	rs777791532	0.00002
NM_000053.4(ATP7B):c.3505A>G (p.Met1169Val)	rs749085322	0.00002
NM_000053.4(ATP7B):c.3517G>A (p.Glu1173Lys)	rs756029120	0.00002
NM_000053.4(ATP7B):c.3694A>C (p.Thr1232Pro)	rs568009639	0.00002
NM_000053.4(ATP7B):c.3951T>C (p.Thr1317=)	rs375443998	0.00002
NM_000053.4(ATP7B):c.4035C>T (p.Pro1345=)	rs564541246	0.00002
NM_000057.4(BLM):c.3028del (p.Asp1010fs)	rs780379121	0.00002
NM_000057.4(BLM):c.3439A>T (p.Lys1147Ter)	rs770311534	0.00002
NM_000057.4(BLM):c.3839C>G (p.Ser1280Ter)	rs1897349804	0.00002
NM_000057.4(BLM):c.664G>A (p.Glu222Lys)	rs774075577	0.00002
NM_000057.4(BLM):c.670C>T (p.Gln224Ter)	rs918752814	0.00002
NM_000070.3(CAPN3):c.1077G>A (p.Pro359=)	rs759384108	0.00002
NM_000070.3(CAPN3):c.1202A>G (p.Tyr401Cys)	rs371784007	0.00002
NM_000070.3(CAPN3):c.1422G>A (p.Ser474=)	rs367855757	0.00002
NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln)	rs121434544	0.00002
NM_000070.3(CAPN3):c.1801-1G>A	rs886043752	0.00002
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln)	rs587780290	0.00002
NM_000070.3(CAPN3):c.566T>C (p.Leu189Pro)	rs758795961	0.00002
NM_000071.3(CBS):c.1006C>T (p.Arg336Cys)	rs398123151	0.00002
NM_000071.3(CBS):c.325T>C (p.Cys109Arg)	rs778220779	0.00002
NM_000071.3(CBS):c.361C>T (p.Arg121Cys)	rs775992753	0.00002
NM_000071.3(CBS):c.430G>A (p.Glu144Lys)	rs121964966	0.00002
NM_000071.3(CBS):c.689del (p.Leu230fs)	rs775351239	0.00002
NM_000071.3(CBS):c.921C>G (p.Gly307=)	rs147875876	0.00002
NM_000071.3(CBS):c.959T>C (p.Val320Ala)	rs781567152	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_000094.4(COL7A1):c.2249C>T (p.Thr750Met)	rs377763372	0.00002
NM_000094.4(COL7A1):c.2548G>A (p.Asp850Asn)	rs538387822	0.00002
NM_000094.4(COL7A1):c.2734C>T (p.Leu912=)	rs773201784	0.00002
NM_000094.4(COL7A1):c.4636-9T>C	rs760840151	0.00002
NM_000094.4(COL7A1):c.477T>C (p.Ala159=)	rs910778254	0.00002
NM_000094.4(COL7A1):c.5441G>A (p.Arg1814His)	rs756258247	0.00002
NM_000094.4(COL7A1):c.5532+8T>C	rs1321882939	0.00002
NM_000094.4(COL7A1):c.5701-10C>T	rs1471404340	0.00002
NM_000094.4(COL7A1):c.7068+5G>A	rs779875751	0.00002
NM_000098.3(CPT2):c.1404G>A (p.Gln468=)	rs140771069	0.00002
NM_000098.3(CPT2):c.1414C>T (p.Gln472Ter)	rs754386565	0.00002
NM_000098.3(CPT2):c.1460A>C (p.Glu487Ala)	rs368132822	0.00002
NM_000098.3(CPT2):c.1660C>T (p.Arg554Ter)	rs539239516	0.00002
NM_000098.3(CPT2):c.1678C>T (p.Arg560Trp)	rs759016933	0.00002
NM_000098.3(CPT2):c.340+10C>G	rs781682674	0.00002
NM_000102.4(CYP17A1):c.1247G>A (p.Arg416His)	rs104894155	0.00002
NM_000108.5(DLD):c.1214C>A (p.Ser405Ter)	rs1267571380	0.00002
NM_000108.5(DLD):c.597A>T (p.Thr199=)	rs768248572	0.00002
NM_000112.4(SLC26A2):c.2033G>T (p.Gly678Val)	rs104893916	0.00002
NM_000126.4(ETFA):c.494T>C (p.Val165Ala)	rs749455172	0.00002
NM_000126.4(ETFA):c.625C>T (p.Arg209Ter)	rs199763682	0.00002
NM_000126.4(ETFA):c.759T>C (p.Asp253=)	rs142970498	0.00002
NM_000128.4(F11):c.1853T>G (p.Ile618Ser)	rs281875276	0.00002
NM_000128.4(F11):c.696T>C (p.His232=)	rs746382259	0.00002
NM_000133.4(F9):c.163T>A (p.Phe55Ile)	rs759987427	0.00002
NM_000135.4(FANCA):c.1237C>T (p.Arg413Cys)	rs780135578	0.00002
NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys)	rs148473140	0.00002
NM_000135.4(FANCA):c.1889A>T (p.Glu630Val)	rs199599499	0.00002
NM_000135.4(FANCA):c.2109G>C (p.Gln703His)	rs371458363	0.00002
NM_000135.4(FANCA):c.2383A>G (p.Arg795Gly)	rs767455904	0.00002
NM_000135.4(FANCA):c.2395C>T (p.Pro799Ser)	rs762439008	0.00002
NM_000135.4(FANCA):c.2505-7T>C	rs374909752	0.00002
NM_000135.4(FANCA):c.2778+1G>A	rs140180549	0.00002
NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met)	rs142833057	0.00002
NM_000135.4(FANCA):c.3971C>T (p.Pro1324Leu)	rs182657062	0.00002
NM_000135.4(FANCA):c.4117A>G (p.Thr1373Ala)	rs753944130	0.00002
NM_000135.4(FANCA):c.4252G>A (p.Val1418Met)	rs145148206	0.00002
NM_000135.4(FANCA):c.778G>A (p.Glu260Lys)	rs201992220	0.00002
NM_000135.4(FANCA):c.837C>T (p.Asp279=)	rs752311383	0.00002
NM_000135.4(FANCA):c.953G>T (p.Arg318Met)	rs72552377	0.00002
NM_000136.3(FANCC):c.1302dup (p.Gly435fs)	rs730881709	0.00002
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro)	rs104886458	0.00002
NM_000137.4(FAH):c.1210G>A (p.Gly404Ser)	rs1297118863	0.00002
NM_000137.4(FAH):c.391C>T (p.Arg131Trp)	rs147946196	0.00002
NM_000137.4(FAH):c.696C>T (p.Asn232=)	rs533540262	0.00002
NM_000137.4(FAH):c.726G>A (p.Trp242Ter)	rs1567118987	0.00002
NM_000151.4(G6PC1):c.1068G>A (p.Ser356=)	rs776022311	0.00002
NM_000151.4(G6PC1):c.14T>G (p.Met5Arg)	rs1250172816	0.00002
NM_000151.4(G6PC1):c.340+7G>A	rs570199529	0.00002
NM_000151.4(G6PC1):c.365G>A (p.Gly122Asp)	rs759982943	0.00002
NM_000151.4(G6PC1):c.648G>T (p.Leu216=)	rs80356484	0.00002
NM_000151.4(G6PC1):c.809G>T (p.Gly270Val)	rs80356483	0.00002
NM_000151.4(G6PC1):c.879A>G (p.Pro293=)	rs529957748	0.00002
NM_000152.5(GAA):c.1076-22T>G	rs762260678	0.00002
NM_000152.5(GAA):c.1222A>G (p.Met408Val)	rs560575383	0.00002
NM_000152.5(GAA):c.1316T>A (p.Met439Lys)	rs747610090	0.00002
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg)	rs772883420	0.00002
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys)	rs765362308	0.00002
NM_000152.5(GAA):c.1735G>A (p.Glu579Lys)	rs991082382	0.00002
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn)	rs753269119	0.00002
NM_000152.5(GAA):c.1912G>T (p.Gly638Trp)	rs757617999	0.00002
NM_000152.5(GAA):c.2014C>T (p.Arg672Trp)	rs757111744	0.00002
NM_000152.5(GAA):c.2015G>A (p.Arg672Gln)	rs778418246	0.00002
NM_000152.5(GAA):c.2190-4G>A	rs759974338	0.00002
NM_000152.5(GAA):c.2228A>G (p.Gln743Arg)	rs1567838823	0.00002
NM_000152.5(GAA):c.317G>A (p.Arg106His)	rs772534106	0.00002
NM_000152.5(GAA):c.705G>A (p.Thr235=)	rs2304846	0.00002
NM_000152.5(GAA):c.868A>G (p.Asn290Asp)	rs552929702	0.00002
NM_000152.5(GAA):c.971C>T (p.Pro324Leu)	rs750030887	0.00002
NM_000153.4(GALC):c.1587G>A (p.Thr529=)	rs184748969	0.00002
NM_000153.4(GALC):c.1814dup (p.Tyr605Ter)	rs766007316	0.00002
NM_000153.4(GALC):c.583-4G>T	rs751820306	0.00002
NM_000153.4(GALC):c.628A>T (p.Arg210Ter)	rs202131052	0.00002
NM_000153.4(GALC):c.674C>A (p.Ala225Glu)	rs373077659	0.00002
NM_000154.2(GALK1):c.863C>T (p.Thr288Met)	rs759284637	0.00002
NM_000156.6(GAMT):c.403G>A (p.Asp135Asn)	rs774144200	0.00002
NM_000157.4(GBA1):c.689T>G (p.Val230Gly)	rs381427	0.00002
NM_000158.4(GBE1):c.1063C>T (p.Arg355Cys)	rs780431086	0.00002
NM_000158.4(GBE1):c.1204A>G (p.Thr402Ala)	rs757297254	0.00002
NM_000158.4(GBE1):c.1468del (p.Leu490fs)	rs774465102	0.00002
NM_000158.4(GBE1):c.1694G>A (p.Arg565Gln)	rs774619760	0.00002
NM_000158.4(GBE1):c.671T>C (p.Leu224Pro)	rs137852886	0.00002
NM_000159.4(GCDH):c.1298C>T (p.Ala433Val)	rs933624223	0.00002
NM_000159.4(GCDH):c.553G>A (p.Gly185Arg)	rs576948027	0.00002
NM_000159.4(GCDH):c.641C>T (p.Thr214Met)	rs1131692030	0.00002
NM_000159.4(GCDH):c.892G>A (p.Ala298Thr)	rs761765983	0.00002
NM_000159.4(GCDH):c.937C>T (p.Arg313Trp)	rs779315456	0.00002
NM_000159.4(GCDH):c.938G>A (p.Arg313Gln)	rs746220312	0.00002
NM_000166.6(GJB1):c.14G>T (p.Gly5Val)	rs1064793139	0.00002
NM_000169.3(GLA):c.1181T>C (p.Leu394Pro)	rs886044779	0.00002
NM_000169.3(GLA):c.335G>A (p.Arg112His)	rs372966991	0.00002
NM_000169.3(GLA):c.593T>C (p.Ile198Thr)	rs727503950	0.00002
NM_000169.3(GLA):c.868A>C (p.Met290Leu)	rs375538532	0.00002
NM_000170.3(GLDC):c.2678C>T (p.Pro893Leu)	rs367987650	0.00002
NM_000170.3(GLDC):c.437C>T (p.Thr146Met)	rs376578742	0.00002
NM_000170.3(GLDC):c.847G>C (p.Ala283Pro)	rs386833589	0.00002
NM_000182.5(HADHA):c.1794T>C (p.His598=)	rs149021400	0.00002
NM_000182.5(HADHA):c.2114T>A (p.Val705Asp)	rs1240187200	0.00002
NM_000195.5(HPS1):c.1857+2T>C	rs374689398	0.00002
NM_000195.5(HPS1):c.1896C>T (p.Ser632=)	rs760508807	0.00002
NM_000195.5(HPS1):c.398+2T>C	rs1486224265	0.00002
NM_000195.5(HPS1):c.716T>C (p.Leu239Pro)	rs281865080	0.00002
NM_000199.5(SGSH):c.1035C>T (p.Gly345=)	rs748069998	0.00002
NM_000199.5(SGSH):c.1040C>T (p.Ser347Phe)	rs780239925	0.00002
NM_000199.5(SGSH):c.1167C>A (p.Asn389Lys)	rs764057581	0.00002
NM_000199.5(SGSH):c.1371T>C (p.Phe457=)	rs867660906	0.00002
NM_000199.5(SGSH):c.153C>T (p.Asp51=)	rs372226239	0.00002
NM_000199.5(SGSH):c.235A>C (p.Thr79Pro)	rs779703983	0.00002
NM_000199.5(SGSH):c.250-2A>G	rs745319635	0.00002
NM_000199.5(SGSH):c.364G>A (p.Gly122Arg)	rs761607612	0.00002
NM_000199.5(SGSH):c.537C>T (p.Asp179=)	rs771440037	0.00002
NM_000203.5(IDUA):c.1093C>G (p.Leu365Val)	rs527336882	0.00002
NM_000203.5(IDUA):c.1163C>G (p.Thr388Arg)	rs794727896	0.00002
NM_000203.5(IDUA):c.1727+4C>T	rs1202966289	0.00002
NM_000203.5(IDUA):c.237C>T (p.Ala79=)	rs769676234	0.00002
NM_000203.5(IDUA):c.793-5C>T	rs773072991	0.00002
NM_000206.3(IL2RG):c.1076C>T (p.Ala359Val)	rs767383120	0.00002
NM_000206.3(IL2RG):c.201C>T (p.Val67=)	rs756100347	0.00002
NM_000206.3(IL2RG):c.494T>G (p.Leu165Arg)	rs758693125	0.00002
NM_000206.3(IL2RG):c.75G>A (p.Thr25=)	rs754951792	0.00002
NM_000206.3(IL2RG):c.87G>A (p.Thr29=)	rs779772745	0.00002
NM_000206.3(IL2RG):c.953C>T (p.Ala318Val)	rs370007902	0.00002
NM_000231.3(SGCG):c.386-1G>A	rs913248720	0.00002
NM_000232.5(SGCB):c.551A>G (p.Tyr184Cys)	rs1365923535	0.00002
NM_000237.3(LPL):c.547G>A (p.Asp183Asn)	rs781614031	0.00002
NM_000237.3(LPL):c.755T>C (p.Ile252Thr)	rs118204080	0.00002
NM_000243.3(MEFV):c.1898C>T (p.Pro633Leu)	rs976279218	0.00002
NM_000243.3(MEFV):c.801A>G (p.Thr267=)	rs141455838	0.00002
NM_000246.4(CIITA):c.1527C>T (p.Gly509=)	rs1427227633	0.00002
NM_000246.4(CIITA):c.2343G>A (p.Ser781=)	rs749019138	0.00002
NM_000246.4(CIITA):c.3207G>A (p.Pro1069=)	rs772387879	0.00002
NM_000252.3(MTM1):c.297G>A (p.Ala99=)	rs781784303	0.00002
NM_000252.3(MTM1):c.528+7T>C	rs782460237	0.00002
NM_000252.3(MTM1):c.546T>C (p.His182=)	rs782217349	0.00002
NM_000252.3(MTM1):c.741C>T (p.Val247=)	rs374360983	0.00002
NM_000260.4(MYO7A):c.1142C>T (p.Thr381Met)	rs782681743	0.00002
NM_000260.4(MYO7A):c.2002C>T (p.Arg668Cys)	rs397516292	0.00002
NM_000260.4(MYO7A):c.2904G>T (p.Glu968Asp)	rs111033233	0.00002
NM_000260.4(MYO7A):c.5660C>T (p.Pro1887Leu)	rs199606180	0.00002
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter)	rs376764423	0.00002
NM_000260.4(MYO7A):c.634C>T (p.Arg212Cys)	rs121965080	0.00002
NM_000260.4(MYO7A):c.6487G>A (p.Gly2163Ser)	rs747656448	0.00002
NM_000263.4(NAGLU):c.1811C>T (p.Pro604Leu)	rs751203469	0.00002
NM_000263.4(NAGLU):c.2020C>T (p.Arg674Cys)	rs763299645	0.00002
NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys)	rs753520553	0.00002
NM_000271.5(NPC1):c.1114C>T (p.Arg372Trp)	rs1346436537	0.00002
NM_000271.5(NPC1):c.1351G>A (p.Glu451Lys)	rs781065429	0.00002
NM_000271.5(NPC1):c.1819C>A (p.Arg607=)	rs377130051	0.00002
NM_000271.5(NPC1):c.1901A>G (p.Tyr634Cys)	rs202140203	0.00002
NM_000271.5(NPC1):c.2777C>T (p.Ala926Val)	rs730880963	0.00002
NM_000271.5(NPC1):c.3289G>A (p.Asp1097Asn)	rs758829443	0.00002
NM_000271.5(NPC1):c.3634G>T (p.Val1212Leu)	rs753419933	0.00002
NM_000277.3(PAH):c.1066-3C>T	rs62507344	0.00002
NM_000277.3(PAH):c.1218A>G (p.Ile406Met)	rs773526027	0.00002
NM_000277.3(PAH):c.250G>T (p.Asp84Tyr)	rs62514902	0.00002
NM_000277.3(PAH):c.283A>T (p.Ile95Phe)	rs62508682	0.00002
NM_000277.3(PAH):c.581T>C (p.Leu194Pro)	rs5030844	0.00002
NM_000277.3(PAH):c.638T>C (p.Leu213Pro)	rs62516109	0.00002
NM_000277.3(PAH):c.806del (p.Ile269fs)	rs62508687	0.00002
NM_000277.3(PAH):c.870T>C (p.His290=)	rs751203209	0.00002
NM_000277.3(PAH):c.913-7A>G	rs62517165	0.00002
NM_000282.4(PCCA):c.2T>C (p.Met1Thr)	rs372093520	0.00002
NM_000282.4(PCCA):c.775_779del (p.Leu259fs)	rs794726976	0.00002
NM_000284.4(PDHA1):c.759+9A>G	rs2643456	0.00002
NM_000289.6(PFKM):c.1467C>T (p.Asn489=)	rs753681797	0.00002
NM_000303.3(PMM2):c.104T>A (p.Leu35Ter)	rs1555448899	0.00002
NM_000303.3(PMM2):c.255+1G>A	rs1060499598	0.00002
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp)	rs104894526	0.00002
NM_000303.3(PMM2):c.620T>C (p.Phe207Ser)	rs532870929	0.00002
NM_000317.3(PTS):c.245A>G (p.Glu82Gly)	rs778932353	0.00002
NM_000317.3(PTS):c.84-3C>G	rs1230781262	0.00002
NM_000349.3(STAR):c.814C>T (p.Arg272Cys)	rs751759820	0.00002
NM_000352.6(ABCC8):c.208G>A (p.Gly70Arg)	rs764349043	0.00002
NM_000352.6(ABCC8):c.3960C>T (p.Thr1320=)	rs137868047	0.00002
NM_000352.6(ABCC8):c.4104C>T (p.Ile1368=)	rs1345535328	0.00002
NM_000352.6(ABCC8):c.4308-2A>G	rs886041391	0.00002
NM_000352.6(ABCC8):c.4581C>T (p.Phe1527=)	rs773042150	0.00002
NM_000359.3(TGM1):c.1223_1227del (p.Asp408fs)	rs398122905	0.00002
NM_000359.3(TGM1):c.832G>A (p.Gly278Arg)	rs121918725	0.00002
NM_000359.3(TGM1):c.857G>A (p.Arg286Gln)	rs121918727	0.00002
NM_000359.3(TGM1):c.967C>T (p.Arg323Trp)	rs771820315	0.00002
NM_000360.4(TH):c.1189G>A (p.Gly397Arg)	rs1264884607	0.00002
NM_000360.4(TH):c.1388C>T (p.Thr463Met)	rs45471299	0.00002
NM_000360.4(TH):c.1422C>T (p.Ala474=)	rs375735482	0.00002
NM_000360.4(TH):c.364C>T (p.Arg122Ter)	rs771610752	0.00002
NM_000360.4(TH):c.474C>T (p.Pro158=)	rs531554933	0.00002
NM_000382.3(ALDH3A2):c.1094C>T (p.Ser365Leu)	rs72547573	0.00002
NM_000382.3(ALDH3A2):c.683G>A (p.Arg228His)	rs866392702	0.00002
NM_000382.3(ALDH3A2):c.733G>A (p.Asp245Asn)	rs72547568	0.00002
NM_000383.4(AIRE):c.1616C>T (p.Pro539Leu)	rs179363889	0.00002
NM_000383.4(AIRE):c.274C>T (p.Arg92Trp)	rs140630532	0.00002
NM_000383.4(AIRE):c.607C>T (p.Arg203Ter)	rs755490967	0.00002
NM_000391.4(TPP1):c.1281G>A (p.Thr427=)	rs577520250	0.00002
NM_000391.4(TPP1):c.1552-9C>T	rs369699167	0.00002
NM_000404.4(GLB1):c.841C>T (p.His281Tyr)	rs745386663	0.00002
NM_000414.4(HSD17B4):c.394C>T (p.Arg132Trp)	rs773305477	0.00002
NM_000441.2(SLC26A4):c.1343C>T (p.Ser448Leu)	rs747076316	0.00002
NM_000441.2(SLC26A4):c.1588T>C (p.Tyr530His)	rs111033254	0.00002
NM_000441.2(SLC26A4):c.165-1G>A	rs759792660	0.00002
NM_000441.2(SLC26A4):c.1920G>A (p.Trp640Ter)	rs368119540	0.00002
NM_000441.2(SLC26A4):c.1983C>A (p.Asp661Glu)	rs199588131	0.00002
NM_000441.2(SLC26A4):c.200C>G (p.Thr67Ser)	rs111033240	0.00002
NM_000441.2(SLC26A4):c.55del (p.Ser19fs)	rs1057516634	0.00002
NM_000466.3(PEX1):c.2634G>A (p.Leu878=)	rs1193232549	0.00002
NM_000466.3(PEX1):c.2730del (p.Leu910fs)	rs61750423	0.00002
NM_000466.3(PEX1):c.2T>C (p.Met1Thr)	rs766020928	0.00002
NM_000466.3(PEX1):c.3166T>C (p.Leu1056=)	rs1009877821	0.00002
NM_000466.3(PEX1):c.782_783del (p.Gln261fs)	rs749067142	0.00002
NM_000478.6(ALPL):c.44C>G (p.Thr15Ser)	rs150849772	0.00002
NM_000478.6(ALPL):c.657G>T (p.Met219Ile)	rs776117933	0.00002
NM_000481.4(AMT):c.574C>T (p.Gln192Ter)	rs121964986	0.00002
NM_000481.4(AMT):c.794G>A (p.Arg265His)	rs757918826	0.00002
NM_000487.6(ARSA):c.251C>T (p.Pro84Leu)	rs6151411	0.00002
NM_000487.6(ARSA):c.346C>T (p.Arg116Ter)	rs761860059	0.00002
NM_000487.6(ARSA):c.510C>T (p.Cys170=)	rs1483727422	0.00002
NM_000487.6(ARSA):c.907G>A (p.Gly303Arg)	rs1276584787	0.00002
NM_000487.6(ARSA):c.938G>A (p.Arg313Gln)	rs199476382	0.00002
NM_000487.6(ARSA):c.960G>A (p.Trp320Ter)	rs1375757476	0.00002
NM_000487.6(ARSA):c.979G>A (p.Gly327Ser)	rs148092995	0.00002
NM_000487.6(ARSA):c.991G>A (p.Glu331Lys)	rs398123419	0.00002
NM_000489.6(ATRX):c.1130C>T (p.Ala377Val)	rs781955237	0.00002
NM_000489.6(ATRX):c.1346C>G (p.Pro449Arg)	rs782163488	0.00002
NM_000489.6(ATRX):c.1468G>A (p.Gly490Ser)	rs1378005125	0.00002
NM_000489.6(ATRX):c.16A>G (p.Met6Val)	rs782080475	0.00002
NM_000489.6(ATRX):c.1758A>G (p.Leu586=)	rs781987630	0.00002
NM_000489.6(ATRX):c.2118T>A (p.Ser706Arg)	rs782598442	0.00002
NM_000489.6(ATRX):c.2212C>G (p.Leu738Val)	rs782470087	0.00002
NM_000489.6(ATRX):c.3133A>G (p.Lys1045Glu)	rs1332447363	0.00002
NM_000489.6(ATRX):c.3285G>T (p.Lys1095Asn)	rs1308342676	0.00002
NM_000489.6(ATRX):c.3387G>A (p.Leu1129=)	rs3761507	0.00002
NM_000489.6(ATRX):c.3664G>A (p.Asp1222Asn)	rs782520515	0.00002
NM_000489.6(ATRX):c.631C>T (p.Arg211Cys)	rs782241890	0.00002
NM_000492.4(CFTR):c.127G>A (p.Val43Ile)	rs370586917	0.00002
NM_000492.4(CFTR):c.1570T>C (p.Cys524Arg)	rs368516826	0.00002
NM_000492.4(CFTR):c.3024C>T (p.Val1008=)	rs774643457	0.00002
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys)	rs144055758	0.00002
NM_000492.4(CFTR):c.869+8G>T	rs773933167	0.00002
NM_000498.3(CYP11B2):c.1158G>A (p.Val386=)	rs759747744	0.00002
NM_000498.3(CYP11B2):c.1227G>A (p.Ser409=)	rs61757291	0.00002
NM_000498.3(CYP11B2):c.537C>T (p.Asn179=)	rs200206561	0.00002
NM_000498.3(CYP11B2):c.84C>T (p.Ala28=)	rs745626507	0.00002
NM_000518.5(HBB):c.82G>T (p.Ala28Ser)	rs35424040	0.00002
NM_000520.6(HEXA):c.1511G>A (p.Arg504His)	rs121907955	0.00002
NM_000520.6(HEXA):c.532C>T (p.Arg178Cys)	rs121907953	0.00002
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys)	rs566580738	0.00002
NM_000520.6(HEXA):c.906C>T (p.Ser302=)	rs765612435	0.00002
NM_000521.4(HEXB):c.1417+5G>A	rs763517499	0.00002
NM_000521.4(HEXB):c.1513C>T (p.Arg505Trp)	rs751592419	0.00002
NM_000521.4(HEXB):c.410G>A (p.Cys137Tyr)	rs779453450	0.00002
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)	rs397509365	0.00002
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)	rs730882096	0.00002
NM_000527.5(LDLR):c.1066G>A (p.Asp356Asn)	rs767767730	0.00002
NM_000527.5(LDLR):c.1097A>G (p.Gln366Arg)	rs746982741	0.00002
NM_000527.5(LDLR):c.1166C>T (p.Thr389Met)	rs149227308	0.00002
NM_000527.5(LDLR):c.1706-21_1706-19del	rs386134242	0.00002
NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys)	rs185098634	0.00002
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)	rs373371572	0.00002
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln)	rs201102492	0.00002
NM_000527.5(LDLR):c.2411T>C (p.Leu804Pro)	rs879255203	0.00002
NM_000527.5(LDLR):c.268G>A (p.Asp90Asn)	rs749038326	0.00002
NM_000527.5(LDLR):c.409G>A (p.Gly137Ser)	rs730882082	0.00002
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)	rs121908039	0.00002
NM_000527.5(LDLR):c.656G>A (p.Gly219Asp)	rs201384282	0.00002
NM_000527.5(LDLR):c.993C>T (p.Asp331=)	rs147905921	0.00002
NM_000528.4(MAN2B1):c.1501T>A (p.Cys501Ser)	rs747721968	0.00002
NM_000528.4(MAN2B1):c.1929-1G>T	rs763100457	0.00002
NM_000528.4(MAN2B1):c.2140T>C (p.Trp714Arg)	rs864621993	0.00002
NM_000528.4(MAN2B1):c.2278C>T (p.Arg760Ter)	rs121434331	0.00002
NM_000528.4(MAN2B1):c.2867T>G (p.Leu956Arg)	rs768233248	0.00002
NM_000531.6(OTC):c.216+9C>T	rs774764719	0.00002
NM_000532.5(PCCB):c.449C>T (p.Thr150Met)	rs372770908	0.00002
NM_000532.5(PCCB):c.814C>T (p.Arg272Trp)	rs375999824	0.00002
NM_000532.5(PCCB):c.836C>T (p.Pro279Leu)	rs780837200	0.00002
NM_000532.5(PCCB):c.889C>T (p.Arg297Cys)	rs549397464	0.00002
NM_000536.4(RAG2):c.218G>A (p.Arg73His)	rs762407838	0.00002
NM_000543.5(SMPD1):c.1054G>T (p.Glu352Ter)	rs201550531	0.00002
NM_000543.5(SMPD1):c.1106A>G (p.Tyr369Cys)	rs372287825	0.00002
NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu)	rs753508874	0.00002
NM_000543.5(SMPD1):c.1492C>T (p.Arg498Cys)	rs769904764	0.00002
NM_000642.3(AGL):c.1482C>T (p.Arg494=)	rs781451112	0.00002
NM_000642.3(AGL):c.2039G>A (p.Trp680Ter)	rs113994129	0.00002
NM_000642.3(AGL):c.4186A>G (p.Lys1396Glu)	rs539403694	0.00002
NM_000642.3(AGL):c.4422del (p.Ala1475fs)	rs1286364615	0.00002
NM_000709.4(BCKDHA):c.1302C>T (p.Tyr434=)	rs398123491	0.00002
NM_000709.4(BCKDHA):c.659C>T (p.Ala220Val)	rs375785084	0.00002
NM_000709.4(BCKDHA):c.798C>T (p.Asn266=)	rs772457864	0.00002
NM_000709.4(BCKDHA):c.889C>T (p.Arg297Cys)	rs145901144	0.00002
NM_000784.4(CYP27A1):c.1476+2T>A	rs1165952837	0.00002
NM_001003722.2(GLE1):c.2028+1G>A	rs775658412	0.00002
NM_001033855.3(DCLRE1C):c.1224G>A (p.Pro408=)	rs532892332	0.00002
NM_001039958.2(MESP2):c.561G>A (p.Gly187=)	rs767474985	0.00002
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys)	rs119464998	0.00002
NM_001079866.2(BCS1L):c.-50+405A>G	rs898301590	0.00002
NM_001122769.3(LCA5):c.1769A>G (p.Asp590Gly)	rs771460783	0.00002
NM_001126108.2(SLC12A3):c.1067C>T (p.Ala356Val)	rs1280772093	0.00002
NM_001126108.2(SLC12A3):c.1195C>T (p.Arg399Cys)	rs775931992	0.00002
NM_001126108.2(SLC12A3):c.947G>T (p.Gly316Val)	rs748920885	0.00002
NM_001127671.2(LIFR):c.2074C>T (p.Arg692Ter)	rs199775294	0.00002
NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp)	rs202218890	0.00002
NM_001130987.2(DYSF):c.3170G>A (p.Arg1057Gln)	rs149617331	0.00002
NM_001130987.2(DYSF):c.3403-2A>G	rs370874727	0.00002
NM_001142800.2(EYS):c.-351C>T	rs761045622	0.00002
NM_001142800.2(EYS):c.2528G>A (p.Gly843Glu)	rs74419361	0.00002
NM_001142800.2(EYS):c.32dup (p.Met12fs)	rs779372264	0.00002
NM_001142800.2(EYS):c.8606C>G (p.Ser2869Ter)	rs933169926	0.00002
NM_001164277.2(SLC37A4):c.1099G>A (p.Ala367Thr)	rs80356492	0.00002
NM_001164277.2(SLC37A4):c.742C>T (p.Gln248Ter)	rs781784543	0.00002
NM_001164507.2(NEB):c.21346G>A (p.Asp7116Asn)	rs372827767	0.00002
NM_001164508.2(NEB):c.10471A>G (p.Met3491Val)	rs761174573	0.00002
NM_001164508.2(NEB):c.104C>T (p.Thr35Met)	rs749153659	0.00002
NM_001164508.2(NEB):c.10544G>A (p.Arg3515Gln)	rs748799656	0.00002
NM_001164508.2(NEB):c.11181T>A (p.Asp3727Glu)	rs551261559	0.00002
NM_001164508.2(NEB):c.11457G>A (p.Val3819=)	rs780152095	0.00002
NM_001164508.2(NEB):c.11627G>A (p.Trp3876Ter)	rs776569219	0.00002
NM_001164508.2(NEB):c.11716C>T (p.Arg3906Cys)	rs759419548	0.00002
NM_001164508.2(NEB):c.17161G>A (p.Val5721Met)	rs746737604	0.00002
NM_001164508.2(NEB):c.17185G>A (p.Asp5729Asn)	rs374867405	0.00002
NM_001164508.2(NEB):c.18140A>G (p.Tyr6047Cys)	rs533393007	0.00002
NM_001164508.2(NEB):c.18830C>T (p.Thr6277Met)	rs371689870	0.00002
NM_001164508.2(NEB):c.19325G>A (p.Arg6442Gln)	rs375182306	0.00002
NM_001164508.2(NEB):c.19544G>A (p.Arg6515His)	rs757278862	0.00002
NM_001164508.2(NEB):c.19621A>C (p.Ser6541Arg)	rs779842159	0.00002
NM_001164508.2(NEB):c.20099T>C (p.Leu6700Pro)	rs560109089	0.00002
NM_001164508.2(NEB):c.20728G>A (p.Ala6910Thr)	rs750152377	0.00002
NM_001164508.2(NEB):c.2155C>T (p.Pro719Ser)	rs376503299	0.00002
NM_001164508.2(NEB):c.21689C>T (p.Ala7230Val)	rs368315910	0.00002
NM_001164508.2(NEB):c.21916G>A (p.Ala7306Thr)	rs1289511955	0.00002
NM_001164508.2(NEB):c.22022C>T (p.Ala7341Val)	rs550296441	0.00002
NM_001164508.2(NEB):c.22504A>G (p.Lys7502Glu)	rs376495046	0.00002
NM_001164508.2(NEB):c.22984C>T (p.His7662Tyr)	rs373852098	0.00002
NM_001164508.2(NEB):c.23650-5T>G	rs773618223	0.00002
NM_001164508.2(NEB):c.24557G>A (p.Arg8186His)	rs759962661	0.00002
NM_001164508.2(NEB):c.2490G>A (p.Leu830=)	rs1259136731	0.00002
NM_001164508.2(NEB):c.2659G>T (p.Glu887Ter)	rs1553558398	0.00002
NM_001164508.2(NEB):c.3203C>T (p.Thr1068Ile)	rs769233880	0.00002
NM_001164508.2(NEB):c.3239G>A (p.Arg1080Lys)	rs1377050628	0.00002
NM_001164508.2(NEB):c.3245C>T (p.Ala1082Val)	rs752809792	0.00002
NM_001164508.2(NEB):c.3497A>T (p.His1166Leu)	rs765273968	0.00002
NM_001164508.2(NEB):c.3634G>A (p.Asp1212Asn)	rs779673816	0.00002
NM_001164508.2(NEB):c.3640G>A (p.Glu1214Lys)	rs764769462	0.00002
NM_001164508.2(NEB):c.4204A>G (p.Asn1402Asp)	rs1219268531	0.00002
NM_001164508.2(NEB):c.4283A>G (p.Asn1428Ser)	rs565184120	0.00002
NM_001164508.2(NEB):c.4343G>C (p.Gly1448Ala)	rs756000690	0.00002
NM_001164508.2(NEB):c.4414T>C (p.Tyr1472His)	rs748121656	0.00002
NM_001164508.2(NEB):c.4548T>C (p.Tyr1516=)	rs748479655	0.00002
NM_001164508.2(NEB):c.6145A>G (p.Ile2049Val)	rs755853362	0.00002
NM_001164508.2(NEB):c.6225G>T (p.Met2075Ile)	rs760968740	0.00002
NM_001164508.2(NEB):c.6392A>T (p.Asn2131Ile)	rs781202038	0.00002
NM_001164508.2(NEB):c.674C>T (p.Pro225Leu)	rs770322824	0.00002
NM_001164508.2(NEB):c.6893C>T (p.Ala2298Val)	rs1280388530	0.00002
NM_001164508.2(NEB):c.734G>T (p.Gly245Val)	rs765569689	0.00002
NM_001164508.2(NEB):c.8224G>C (p.Glu2742Gln)	rs772837483	0.00002
NM_001164508.2(NEB):c.8319G>T (p.Arg2773=)	rs746644593	0.00002
NM_001164508.2(NEB):c.8690T>C (p.Met2897Thr)	rs747466015	0.00002
NM_001164508.2(NEB):c.8968A>G (p.Arg2990Gly)	rs765940770	0.00002
NM_001164508.2(NEB):c.9046C>T (p.Arg3016Ter)	rs1057517977	0.00002
NM_001164508.2(NEB):c.992C>G (p.Pro331Arg)	rs763822076	0.00002
NM_001243279.3(ACSF3):c.1608G>A (p.Trp536Ter)	rs201954387	0.00002
NM_001243279.3(ACSF3):c.238C>T (p.Gln80Ter)	rs138156311	0.00002
NM_001243279.3(ACSF3):c.424C>T (p.Gln142Ter)	rs142575695	0.00002
NM_001243279.3(ACSF3):c.480C>T (p.Val160=)	rs375671065	0.00002
NM_001243279.3(ACSF3):c.576G>A (p.Trp192Ter)	rs771558691	0.00002
NM_001243279.3(ACSF3):c.689G>A (p.Trp230Ter)	rs145583876	0.00002
NM_001352514.2(HLCS):c.1045G>T (p.Glu349Ter)	rs148324626	0.00002
NM_001352514.2(HLCS):c.1529T>A (p.Val510Asp)	rs769499327	0.00002
NM_001352514.2(HLCS):c.1985G>A (p.Ser662Asn)	rs773398782	0.00002
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn)	rs119103228	0.00002
NM_001352514.2(HLCS):c.2340C>T (p.Ala780=)	rs760265551	0.00002
NM_001360.3(DHCR7):c.1076_1077dup (p.Leu360fs)	rs1318653026	0.00002
NM_001360.3(DHCR7):c.1337G>A (p.Arg446Gln)	rs751604696	0.00002
NM_001360.3(DHCR7):c.1354G>A (p.Ala452Thr)	rs140400648	0.00002
NM_001360.3(DHCR7):c.225C>T (p.Ile75=)	rs755182484	0.00002
NM_001360.3(DHCR7):c.292C>T (p.Gln98Ter)	rs104886039	0.00002
NM_001360.3(DHCR7):c.321G>C (p.Gln107His)	rs104886040	0.00002
NM_001360.3(DHCR7):c.575C>T (p.Ser192Phe)	rs766299724	0.00002
NM_001360.3(DHCR7):c.682C>T (p.Arg228Trp)	rs775773057	0.00002
NM_001369.3(DNAH5):c.100G>A (p.Asp34Asn)	rs1215107095	0.00002
NM_001369.3(DNAH5):c.10195G>A (p.Val3399Ile)	rs749397968	0.00002
NM_001369.3(DNAH5):c.10292T>C (p.Val3431Ala)	rs752629273	0.00002
NM_001369.3(DNAH5):c.11130T>C (p.Arg3710=)	rs765391783	0.00002
NM_001369.3(DNAH5):c.12076G>A (p.Glu4026Lys)	rs776854779	0.00002
NM_001369.3(DNAH5):c.12151A>G (p.Met4051Val)	rs138162689	0.00002
NM_001369.3(DNAH5):c.12558C>T (p.Tyr4186=)	rs748817131	0.00002
NM_001369.3(DNAH5):c.12617G>A (p.Trp4206Ter)	rs372118787	0.00002
NM_001369.3(DNAH5):c.13276G>A (p.Glu4426Lys)	rs777295839	0.00002
NM_001369.3(DNAH5):c.1432C>T (p.Arg478Ter)	rs747900131	0.00002
NM_001369.3(DNAH5):c.1823C>G (p.Thr608Arg)	rs781059966	0.00002
NM_001369.3(DNAH5):c.2048G>A (p.Arg683Gln)	rs142373364	0.00002
NM_001369.3(DNAH5):c.378A>G (p.Val126=)	rs377275027	0.00002
NM_001369.3(DNAH5):c.4054-4T>C	rs200608915	0.00002
NM_001369.3(DNAH5):c.4480C>T (p.Arg1494Trp)	rs535366955	0.00002
NM_001369.3(DNAH5):c.4877T>C (p.Met1626Thr)	rs753163103	0.00002
NM_001369.3(DNAH5):c.4880C>T (p.Thr1627Met)	rs745381842	0.00002
NM_001369.3(DNAH5):c.4936A>C (p.Lys1646Gln)	rs775506164	0.00002
NM_001369.3(DNAH5):c.5290T>C (p.Ser1764Pro)	rs748763552	0.00002
NM_001369.3(DNAH5):c.536C>T (p.Thr179Met)	rs747116308	0.00002
NM_001369.3(DNAH5):c.5642C>T (p.Thr1881Met)	rs190749755	0.00002
NM_001369.3(DNAH5):c.6381C>T (p.Asn2127=)	rs767344710	0.00002
NM_001369.3(DNAH5):c.6763C>T (p.Arg2255Ter)	rs745918507	0.00002
NM_001369.3(DNAH5):c.6911G>A (p.Arg2304Gln)	rs558294959	0.00002
NM_001369.3(DNAH5):c.8184T>G (p.Asn2728Lys)	rs1469012975	0.00002
NM_001369.3(DNAH5):c.8236G>T (p.Val2746Leu)	rs773643407	0.00002
NM_001369.3(DNAH5):c.8311C>T (p.Arg2771Cys)	rs769557047	0.00002
NM_001369.3(DNAH5):c.841G>A (p.Val281Ile)	rs548585661	0.00002
NM_001369.3(DNAH5):c.8642C>G (p.Ala2881Gly)	rs727502973	0.00002
NM_001369.3(DNAH5):c.8926G>A (p.Val2976Ile)	rs752086486	0.00002
NM_001369.3(DNAH5):c.8948C>T (p.Thr2983Met)	rs750809719	0.00002
NM_001369.3(DNAH5):c.9236G>A (p.Arg3079Gln)	rs752552477	0.00002
NM_001369.3(DNAH5):c.9444C>T (p.Cys3148=)	rs543265562	0.00002
NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr)	rs397514369	0.00002
NM_001378454.1(ALMS1):c.10224T>C (p.Ala3408=)	rs1464934308	0.00002
NM_001378454.1(ALMS1):c.11660T>C (p.Ile3887Thr)	rs45630562	0.00002
NM_001378454.1(ALMS1):c.12442C>T (p.Arg4148Ter)	rs192496253	0.00002
NM_001378454.1(ALMS1):c.2961G>A (p.Leu987=)	rs745503022	0.00002
NM_001378454.1(ALMS1):c.717G>A (p.Ala239=)	rs373972884	0.00002
NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter)	rs202033121	0.00002
NM_001384474.1(LOXHD1):c.4212+1G>A	rs889110926	0.00002
NM_001384474.1(LOXHD1):c.6333C>T (p.Tyr2111=)	rs374858340	0.00002
NM_001673.5(ASNS):c.1019G>A (p.Arg340His)	rs1360484422	0.00002
NM_001875.5(CPS1):c.436A>G (p.Thr146Ala)	rs747085519	0.00002
NM_001876.4(CPT1A):c.432T>C (p.Ser144=)	rs751979703	0.00002
NM_002225.5(IVD):c.205G>A (p.Asp69Asn)	rs747273828	0.00002
NM_002225.5(IVD):c.596G>T (p.Gly199Val)	rs121434285	0.00002
NM_002454.3(MTRR):c.1183_1184del (p.Ser395fs)	rs1579758005	0.00002
NM_002454.3(MTRR):c.1252C>T (p.Arg418Ter)	rs777997657	0.00002
NM_002454.3(MTRR):c.340C>T (p.Arg114Ter)	rs754990692	0.00002
NM_002485.5(NBN):c.104T>C (p.Ile35Thr)	rs587780773	0.00002
NM_002485.5(NBN):c.1434C>T (p.Cys478=)	rs1060503473	0.00002
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter)	rs587782545	0.00002
NM_002529.4(NTRK1):c.1237G>C (p.Glu413Gln)	rs199826686	0.00002
NM_002529.4(NTRK1):c.1551G>A (p.Gly517=)	rs1012879877	0.00002
NM_002529.4(NTRK1):c.2205+10G>A	rs368713268	0.00002
NM_002529.4(NTRK1):c.65T>A (p.Leu22Gln)	rs748402400	0.00002
NM_003060.4(SLC22A5):c.1195C>T (p.Arg399Trp)	rs267607054	0.00002
NM_003060.4(SLC22A5):c.1360T>C (p.Tyr454His)	rs766555353	0.00002
NM_003060.4(SLC22A5):c.1521G>C (p.Leu507Phe)	rs778716973	0.00002
NM_003060.4(SLC22A5):c.183C>G (p.Ala61=)	rs1226557478	0.00002
NM_003640.5(ELP1):c.2499dup (p.Lys834Ter)	rs767527819	0.00002
NM_003742.4(ABCB11):c.3268C>T (p.Arg1090Ter)	rs72549396	0.00002
NM_003742.4(ABCB11):c.3669G>C (p.Glu1223Asp)	rs199649780	0.00002
NM_003742.4(ABCB11):c.3691C>T (p.Arg1231Trp)	rs766285158	0.00002
NM_003742.4(ABCB11):c.76+1G>A	rs1413569310	0.00002
NM_003982.4(SLC7A7):c.1116C>G (p.Tyr372Ter)	rs773357652	0.00002
NM_003982.4(SLC7A7):c.1125G>C (p.Val375=)	rs371346432	0.00002
NM_004004.6(GJB2):c.510C>T (p.Asn170=)	rs763068053	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.10677T>C (p.Ile3559=)	rs765950547	0.00002
NM_004006.3(DMD):c.4345-8C>T	rs886044675	0.00002
NM_004629.2(FANCG):c.1144-1G>T	rs755363896	0.00002
NM_004646.4(NPHS1):c.1219C>T (p.Arg407Trp)	rs386833874	0.00002
NM_004646.4(NPHS1):c.1379G>A (p.Arg460Gln)	rs386833880	0.00002
NM_004646.4(NPHS1):c.1714A>G (p.Ser572Gly)	rs755254230	0.00002
NM_004646.4(NPHS1):c.2464G>A (p.Val822Met)	rs267606918	0.00002
NM_004646.4(NPHS1):c.2523G>A (p.Glu841=)	rs1215088730	0.00002
NM_004646.4(NPHS1):c.2600G>A (p.Gly867Asp)	rs753656470	0.00002
NM_004646.4(NPHS1):c.319G>A (p.Ala107Thr)	rs386833933	0.00002
NM_004646.4(NPHS1):c.3442C>T (p.Gln1148Ter)	rs150855173	0.00002
NM_004646.4(NPHS1):c.928G>A (p.Asp310Asn)	rs763972372	0.00002
NM_005055.5(RAPSN):c.370C>T (p.Gln124Ter)	rs1479498379	0.00002
NM_005373.3(MPL):c.382G>T (p.Asp128Tyr)	rs201101813	0.00002
NM_005476.7(GNE):c.2005G>A (p.Gly669Arg)	rs776384541	0.00002
NM_005476.7(GNE):c.302G>A (p.Arg101His)	rs144727134	0.00002
NM_005476.7(GNE):c.829C>T (p.Arg277Cys)	rs762106720	0.00002
NM_005609.4(PYGM):c.1129A>T (p.Asn377Tyr)	rs954192338	0.00002
NM_005609.4(PYGM):c.1239+8C>T	rs886048461	0.00002
NM_005609.4(PYGM):c.1366G>A (p.Val456Met)	rs398124208	0.00002
NM_005609.4(PYGM):c.252C>G (p.Tyr84Ter)	rs1057517145	0.00002
NM_005609.4(PYGM):c.345+2T>A	rs1219299972	0.00002
NM_005609.4(PYGM):c.780C>T (p.Val260=)	rs754415422	0.00002
NM_005609.4(PYGM):c.875T>C (p.Leu292Pro)	rs780375860	0.00002
NM_005957.5(MTHFR):c.330G>C (p.Met110Ile)	rs781158269	0.00002
NM_005957.5(MTHFR):c.470G>A (p.Arg157Gln)	rs121434295	0.00002
NM_005957.5(MTHFR):c.973C>T (p.Arg325Cys)	rs371085894	0.00002
NM_006019.4(TCIRG1):c.117+1G>A	rs377303800	0.00002
NM_006096.4(NDRG1):c.906T>G (p.Ala302=)	rs572270834	0.00002
NM_006261.5(PROP1):c.296G>A (p.Arg99Gln)	rs137853100	0.00002
NM_006261.5(PROP1):c.373C>T (p.Arg125Trp)	rs146918863	0.00002
NM_006261.5(PROP1):c.52G>A (p.Gly18Ser)	rs775353413	0.00002
NM_006432.5(NPC2):c.190+5G>A	rs80358268	0.00002
NM_006623.4(PHGDH):c.1129G>A (p.Gly377Ser)	rs267606948	0.00002
NM_006623.4(PHGDH):c.1365A>G (p.Pro455=)	rs1264262485	0.00002
NM_006623.4(PHGDH):c.804G>A (p.Arg268=)	rs587719252	0.00002
NM_007259.5(VPS45):c.1157G>A (p.Arg386His)	rs781997687	0.00002
NM_012203.2(GRHPR):c.108G>A (p.Ser36=)	rs377072887	0.00002
NM_012203.2(GRHPR):c.608_609del (p.Pro203fs)	rs180177316	0.00002
NM_012203.2(GRHPR):c.735-1G>A	rs180177317	0.00002
NM_012434.5(SLC17A5):c.291G>A (p.Thr97=)	rs386833990	0.00002
NM_012434.5(SLC17A5):c.507del (p.Ala169_Leu170insTer)	rs386833992	0.00002
NM_013339.4(ALG6):c.257+2dup	rs745426479	0.00002
NM_014049.5(ACAD9):c.1240C>T (p.Arg414Cys)	rs777282696	0.00002
NM_014049.5(ACAD9):c.796C>T (p.Arg266Trp)	rs753711253	0.00002
NM_014140.4(SMARCAL1):c.1374C>T (p.Asp458=)	rs200566186	0.00002
NM_014140.4(SMARCAL1):c.2459G>A (p.Arg820His)	rs200666300	0.00002
NM_014249.4(NR2E3):c.290G>A (p.Arg97His)	rs1489149705	0.00002
NM_014252.4(SLC25A15):c.538G>A (p.Glu180Lys)	rs104894424	0.00002
NM_014297.5(ETHE1):c.2T>C (p.Met1Thr)	rs1470124674	0.00002
NM_014297.5(ETHE1):c.488G>A (p.Arg163Gln)	rs745656120	0.00002
NM_014363.6(SACS):c.4723C>T (p.Arg1575Trp)	rs1426756976	0.00002
NM_014844.5(TECPR2):c.1788A>G (p.Gly596=)	rs1330988861	0.00002
NM_015166.4(MLC1):c.544G>A (p.Ala182Thr)	rs537457768	0.00002
NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn)	rs138603088	0.00002
NM_015506.3(MMACHC):c.643T>C (p.Tyr215His)	rs755843695	0.00002
NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln)	rs765822392	0.00002
NM_015702.3(MMADHC):c.776T>C (p.Leu259Pro)	rs118204044	0.00002
NM_016955.4(SEPSECS):c.1390G>T (p.Glu464Ter)	rs747732980	0.00002
NM_017777.4(MKS1):c.1024+1G>A	rs199874059	0.00002
NM_017882.3(CLN6):c.150C>G (p.Tyr50Ter)	rs154774640	0.00002
NM_017882.3(CLN6):c.307C>T (p.Arg103Trp)	rs201095412	0.00002
NM_018006.5(TRMU):c.1102-3C>G	rs753039116	0.00002
NM_018006.5(TRMU):c.1135G>T (p.Gly379Cys)	rs773023974	0.00002
NM_018006.5(TRMU):c.680G>C (p.Arg227Thr)	rs764622793	0.00002
NM_018941.4(CLN8):c.208C>T (p.Arg70Cys)	rs765097897	0.00002
NM_020166.5(MCCC1):c.137-2A>G	rs727504006	0.00002
NM_020166.5(MCCC1):c.144C>T (p.Asn48=)	rs77681010	0.00002
NM_020166.5(MCCC1):c.295G>A (p.Gly99Ser)	rs375244642	0.00002
NM_020166.5(MCCC1):c.388G>A (p.Gly130Ser)	rs202197951	0.00002
NM_020166.5(MCCC1):c.639+5G>T	rs768630906	0.00002
NM_020166.5(MCCC1):c.640-2A>G	rs772395858	0.00002
NM_020166.5(MCCC1):c.758C>T (p.Pro253Leu)	rs202083272	0.00002
NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter)	rs185741664	0.00002
NM_020320.5(RARS2):c.1327T>C (p.Ser443Pro)	rs775295739	0.00002
NM_020320.5(RARS2):c.25A>G (p.Ile9Val)	rs748335175	0.00002
NM_020533.3(MCOLN1):c.265C>T (p.Leu89=)	rs567995024	0.00002
NM_020533.3(MCOLN1):c.362C>T (p.Thr121Met)	rs750170007	0.00002
NM_022124.6(CDH23):c.5311C>T (p.Arg1771Ter)	rs750027965	0.00002
NM_022132.5(MCCC2):c.129+3A>G	rs1352606118	0.00002
NM_023036.6(DNAI2):c.610+1G>A	rs758109864	0.00002
NM_024120.5(NDUFAF5):c.836T>G (p.Met279Arg)	rs761389904	0.00002
NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp)	rs121908110	0.00002
NM_024301.5(FKRP):c.823C>T (p.Arg275Cys)	rs1247934219	0.00002
NM_024649.5(BBS1):c.1110G>A (p.Pro370=)	rs183771956	0.00002
NM_024685.4(BBS10):c.1230T>G (p.His410Gln)	rs1447555059	0.00002
NM_024685.4(BBS10):c.164T>C (p.Leu55Pro)	rs1460517643	0.00002
NM_024685.4(BBS10):c.1677del (p.Ser558_Tyr559insTer)	rs1555202584	0.00002
NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys)	rs575957641	0.00002
NM_024996.7(GFM1):c.1576C>T (p.Arg526Ter)	rs1004779078	0.00002
NM_024996.7(GFM1):c.521A>G (p.Asn174Ser)	rs119470018	0.00002
NM_025215.6(PUS1):c.216T>C (p.Gly72=)	rs766451588	0.00002
NM_031885.5(BBS2):c.118G>T (p.Val40Phe)	rs886043059	0.00002
NM_031885.5(BBS2):c.1780C>T (p.Arg594Ter)	rs762047808	0.00002
NM_031885.5(BBS2):c.1894C>T (p.Arg632Cys)	rs200021475	0.00002
NM_031885.5(BBS2):c.2088T>C (p.Thr696=)	rs886052144	0.00002
NM_033159.4(HYAL1):c.1047G>C (p.Leu349=)	rs782279681	0.00002
NM_033159.4(HYAL1):c.915C>T (p.His305=)	rs1290078379	0.00002
NM_033305.3(VPS13A):c.3075C>T (p.Ser1025=)	rs916979346	0.00002
NM_033305.3(VPS13A):c.4602T>C (p.Ser1534=)	rs752134753	0.00002
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln)	rs104886308	0.00002
NM_052845.4(MMAB):c.12C>A (p.Cys4Ter)	rs1481415459	0.00002
NM_052845.4(MMAB):c.298C>T (p.Leu100=)	rs751553040	0.00002
NM_052845.4(MMAB):c.372C>T (p.Val124=)	rs371092213	0.00002
NM_052845.4(MMAB):c.548A>T (p.His183Leu)	rs752866643	0.00002
NM_054012.4(ASS1):c.1194-1G>C	rs727503814	0.00002
NM_054012.4(ASS1):c.175-1119G>A	rs1488840592	0.00002
NM_054012.4(ASS1):c.370G>A (p.Asp124Asn)	rs936192871	0.00002
NM_054012.4(ASS1):c.814C>T (p.Arg272Cys)	rs762387914	0.00002
NM_054012.4(ASS1):c.836G>A (p.Arg279Gln)	rs371265106	0.00002
NM_054012.4(ASS1):c.920G>A (p.Arg307His)	rs571576756	0.00002
NM_057176.3(BSND):c.97G>C (p.Val33Leu)	rs754523289	0.00002
NM_130849.4(SLC39A4):c.1120G>A (p.Gly374Arg)	rs121434289	0.00002
NM_130849.4(SLC39A4):c.283C>T (p.Arg95Cys)	rs121434292	0.00002
NM_138413.4(HOGA1):c.289C>T (p.Arg97Cys)	rs267606762	0.00002
NM_138694.4(PKHD1):c.10155A>G (p.Ala3385=)	rs773270584	0.00002
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys)	rs148617572	0.00002
NM_138694.4(PKHD1):c.10743C>T (p.Leu3581=)	rs770308751	0.00002
NM_138694.4(PKHD1):c.10906C>T (p.Gln3636Ter)	rs765934021	0.00002
NM_138694.4(PKHD1):c.11747C>G (p.Ser3916Ter)	rs760426769	0.00002
NM_138694.4(PKHD1):c.2265G>A (p.Pro755=)	rs375603741	0.00002
NM_138694.4(PKHD1):c.2291C>T (p.Thr764Ile)	rs190315828	0.00002
NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg)	rs773136605	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.5556T>C (p.His1852=)	rs549418638	0.00002
NM_138694.4(PKHD1):c.5601-8C>T	rs578030952	0.00002
NM_138694.4(PKHD1):c.5830G>A (p.Asp1944Asn)	rs774290802	0.00002
NM_138694.4(PKHD1):c.6097A>G (p.Arg2033Gly)	rs369626030	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_138694.4(PKHD1):c.9705T>A (p.Asn3235Lys)	rs759568939	0.00002
NM_152419.3(HGSNAT):c.1250+1G>A	rs398124544	0.00002
NM_152419.3(HGSNAT):c.370A>T (p.Arg124Trp)	rs754875934	0.00002
NM_152564.5(VPS13B):c.11239C>T (p.Gln3747Ter)	rs386834061	0.00002
NM_152564.5(VPS13B):c.1193C>T (p.Thr398Met)	rs753703762	0.00002
NM_152564.5(VPS13B):c.1529G>A (p.Arg510His)	rs771667880	0.00002
NM_152564.5(VPS13B):c.1915C>T (p.Arg639Ter)	rs764776104	0.00002
NM_152564.5(VPS13B):c.2889G>A (p.Trp963Ter)	rs386834078	0.00002
NM_152564.5(VPS13B):c.3598C>T (p.Arg1200Ter)	rs140353201	0.00002
NM_152564.5(VPS13B):c.4908G>A (p.Arg1636=)	rs765924507	0.00002
NM_152564.5(VPS13B):c.5259dup (p.Gly1754fs)	rs786204533	0.00002
NM_152564.5(VPS13B):c.5334del (p.Arg1779fs)	rs763909903	0.00002
NM_152564.5(VPS13B):c.672C>T (p.Tyr224=)	rs760171272	0.00002
NM_152564.5(VPS13B):c.9816G>A (p.Gln3272=)	rs1397608904	0.00002
NM_152618.3(BBS12):c.2020C>T (p.Arg674Cys)	rs759088490	0.00002
NM_153717.3(EVC):c.2782+1G>T	rs1007534611	0.00002
NM_172250.3(MMAA):c.266T>C (p.Leu89Pro)	rs864309726	0.00002
NM_182760.4(SUMF1):c.239T>A (p.Val80Glu)	rs752083773	0.00002
NM_183050.4(BCKDHB):c.1016C>T (p.Ser339Leu)	rs398124561	0.00002
NM_199292.3(TH):c.-71C>T	rs549435434	0.00002
NM_201548.5(CERKL):c.1315C>T (p.Arg439Trp)	rs139300604	0.00002
NM_201548.5(CERKL):c.481+2T>G	rs753994107	0.00002
NM_206933.4(USH2A):c.10852G>A (p.Gly3618Ser)	rs778158900	0.00002
NM_206933.4(USH2A):c.11048-2A>G	rs200871041	0.00002
NM_206933.4(USH2A):c.12295-2A>G	rs151148854	0.00002
NM_206933.4(USH2A):c.12697_12698del (p.Trp4233fs)	rs764917754	0.00002
NM_206933.4(USH2A):c.13112_13115del (p.Gln4371fs)	rs768161313	0.00002
NM_206933.4(USH2A):c.14792-2A>G	rs137853923	0.00002
NM_206933.4(USH2A):c.15017C>T (p.Thr5006Met)	rs757676723	0.00002
NM_206933.4(USH2A):c.15520-1G>A	rs767265734	0.00002
NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe)	rs758571672	0.00002
NM_206933.4(USH2A):c.2187C>A (p.Cys729Ter)	rs757154662	0.00002
NM_206933.4(USH2A):c.2653C>T (p.His885Tyr)	rs746071929	0.00002
NM_206933.4(USH2A):c.4732C>T (p.Arg1578Cys)	rs201529124	0.00002
NM_206933.4(USH2A):c.5329C>T (p.Arg1777Trp)	rs770329105	0.00002
NM_206933.4(USH2A):c.9842G>T (p.Cys3281Phe)	rs727504654	0.00002
NR_003051.3(RMRP):n.-20_1dupCTCTGTGAAGCTGAGGACGTG	rs1563907710	0.00002
NM_000016.6(ACADM):c.1012C>T (p.Gln338Ter)	rs796051896	0.00001
NM_000016.6(ACADM):c.1052C>T (p.Thr351Ile)	rs766140986	0.00001
NM_000016.6(ACADM):c.1073A>T (p.Lys358Met)	rs988752772	0.00001
NM_000016.6(ACADM):c.1114dup (p.Ala372fs)	rs1057516278	0.00001
NM_000016.6(ACADM):c.1115C>A (p.Ala372Asp)	rs781424858	0.00001
NM_000016.6(ACADM):c.1124T>C (p.Ile375Thr)	rs121434275	0.00001
NM_000016.6(ACADM):c.1150G>T (p.Glu384Ter)	rs748110745	0.00001
NM_000016.6(ACADM):c.1238G>A (p.Arg413His)	rs1337929727	0.00001
NM_000016.6(ACADM):c.1257C>A (p.Tyr419Ter)	rs753928772	0.00001
NM_000016.6(ACADM):c.216+5G>T	rs528788578	0.00001
NM_000016.6(ACADM):c.253G>T (p.Gly85Cys)	rs398123075	0.00001
NM_000016.6(ACADM):c.276A>G (p.Pro92=)	rs1212443202	0.00001
NM_000016.6(ACADM):c.296G>T (p.Gly99Val)	rs370608001	0.00001
NM_000016.6(ACADM):c.30+2T>C	rs768596219	0.00001
NM_000016.6(ACADM):c.320T>C (p.Leu107Ser)	rs746136472	0.00001
NM_000016.6(ACADM):c.342_343dup (p.Gly115fs)	rs1647188440	0.00001
NM_000016.6(ACADM):c.347G>A (p.Cys116Tyr)	rs875989859	0.00001
NM_000016.6(ACADM):c.362C>T (p.Thr121Ile)	rs121434283	0.00001
NM_000016.6(ACADM):c.388-3T>G	rs764942250	0.00001
NM_000016.6(ACADM):c.447G>A (p.Met149Ile)	rs121434277	0.00001
NM_000016.6(ACADM):c.447G>T (p.Met149Ile)	rs121434277	0.00001
NM_000016.6(ACADM):c.464T>C (p.Met155Thr)	rs875989876	0.00001
NM_000016.6(ACADM):c.580A>G (p.Asn194Asp)	rs773677327	0.00001
NM_000016.6(ACADM):c.599+1G>A	rs866388216	0.00001
NM_000016.6(ACADM):c.599+2T>C	rs148260275	0.00001
NM_000016.6(ACADM):c.599+5G>A	rs875989861	0.00001
NM_000016.6(ACADM):c.601del (p.Tyr201fs)	rs772650083	0.00001
NM_000016.6(ACADM):c.609A>C (p.Leu203Phe)	rs751829413	0.00001
NM_000016.6(ACADM):c.616C>T (p.Arg206Cys)	rs373715782	0.00001
NM_000016.6(ACADM):c.661G>A (p.Gly221Arg)	rs753627680	0.00001
NM_000016.6(ACADM):c.698T>C (p.Ile233Thr)	rs770273135	0.00001
NM_000016.6(ACADM):c.708G>C (p.Lys236Asn)	rs1185026485	0.00001
NM_000016.6(ACADM):c.709-13A>G	rs746483754	0.00001
NM_000016.6(ACADM):c.709-1G>A	rs941714381	0.00001
NM_000016.6(ACADM):c.728G>A (p.Arg243Gln)	rs373852490	0.00001
NM_000016.6(ACADM):c.734C>T (p.Ser245Leu)	rs121434281	0.00001
NM_000016.6(ACADM):c.843A>T (p.Arg281Ser)	rs780504551	0.00001
NM_000016.6(ACADM):c.849+2T>C	rs780737237	0.00001
NM_000016.6(ACADM):c.91C>T (p.Arg31Cys)	rs768452911	0.00001
NM_000016.6(ACADM):c.92G>A (p.Arg31His)	rs529894272	0.00001
NM_000016.6(ACADM):c.946-2A>C	rs758753966	0.00001
NM_000018.4(ACADVL):c.1127T>C (p.Phe376Ser)	rs758928307	0.00001
NM_000018.4(ACADVL):c.1144A>C (p.Lys382Gln)	rs118204015	0.00001
NM_000018.4(ACADVL):c.1182+3G>T	rs376281637	0.00001
NM_000018.4(ACADVL):c.1198G>A (p.Val400Met)	rs149116708	0.00001
NM_000018.4(ACADVL):c.1269G>A (p.Ser423=)	rs765356942	0.00001
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His)	rs118204016	0.00001
NM_000018.4(ACADVL):c.1357C>T (p.Arg453Ter)	rs794727113	0.00001
NM_000018.4(ACADVL):c.1360G>A (p.Asp454Asn)	rs1419606204	0.00001
NM_000018.4(ACADVL):c.1367G>A (p.Arg456His)	rs794727112	0.00001
NM_000018.4(ACADVL):c.1372T>C (p.Phe458Leu)	rs118204017	0.00001
NM_000018.4(ACADVL):c.1388G>A (p.Gly463Glu)	rs200366828	0.00001
NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp)	rs113994170	0.00001
NM_000018.4(ACADVL):c.1406G>A (p.Arg469Gln)	rs398123083	0.00001
NM_000018.4(ACADVL):c.1468G>C (p.Ala490Pro)	rs759775666	0.00001
NM_000018.4(ACADVL):c.1531C>T (p.Arg511Trp)	rs771025937	0.00001
NM_000018.4(ACADVL):c.1532G>A (p.Arg511Gln)	rs200771970	0.00001
NM_000018.4(ACADVL):c.1534C>T (p.Arg512Trp)	rs371316167	0.00001
NM_000018.4(ACADVL):c.1575C>A (p.Val525=)	rs745996278	0.00001
NM_000018.4(ACADVL):c.1599C>T (p.Gly533=)	rs779770406	0.00001
NM_000018.4(ACADVL):c.1748C>T (p.Ser583Leu)	rs1085307648	0.00001
NM_000018.4(ACADVL):c.1807dup (p.Cys603fs)	rs1555529088	0.00001
NM_000018.4(ACADVL):c.227G>A (p.Gly76Glu)	rs750043368	0.00001
NM_000018.4(ACADVL):c.343-1G>A	rs1555527877	0.00001
NM_000018.4(ACADVL):c.364A>G (p.Asn122Asp)	rs1057520088	0.00001
NM_000018.4(ACADVL):c.374T>C (p.Leu125Pro)	rs1416443472	0.00001
NM_000018.4(ACADVL):c.428G>A (p.Gly143Asp)	rs1458941582	0.00001
NM_000018.4(ACADVL):c.519C>T (p.Gly173=)	rs757830946	0.00001
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser)	rs545215807	0.00001
NM_000018.4(ACADVL):c.603C>G (p.Tyr201Ter)	rs371407903	0.00001
NM_000018.4(ACADVL):c.63-2A>C	rs1555527513	0.00001
NM_000018.4(ACADVL):c.637G>A (p.Ala213Thr)	rs140629318	0.00001
NM_000018.4(ACADVL):c.644G>C (p.Cys215Ser)	rs761405004	0.00001
NM_000018.4(ACADVL):c.664G>A (p.Gly222Arg)	rs398123091	0.00001
NM_000018.4(ACADVL):c.694G>A (p.Ala232Thr)	rs746944448	0.00001
NM_000018.4(ACADVL):c.751A>G (p.Ser251Gly)	rs749159573	0.00001
NM_000018.4(ACADVL):c.753-2A>C	rs398123092	0.00001
NM_000018.4(ACADVL):c.773T>C (p.Ile258Thr)	rs1197133430	0.00001
NM_000018.4(ACADVL):c.869G>A (p.Gly290Asp)	rs866464446	0.00001
NM_000018.4(ACADVL):c.878+1G>C	rs757946752	0.00001
NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu)	rs200573371	0.00001
NM_000018.4(ACADVL):c.887_888del (p.Pro296fs)	rs753108198	0.00001
NM_000018.4(ACADVL):c.889_891del (p.Glu297del)	rs796051914	0.00001
NM_000018.4(ACADVL):c.896A>T (p.Lys299Met)	rs771247610	0.00001
NM_000019.4(ACAT1):c.1040T>C (p.Ile347Thr)	rs1338023969	0.00001
NM_000019.4(ACAT1):c.1160T>C (p.Ile387Thr)	rs748303093	0.00001
NM_000019.4(ACAT1):c.1199A>G (p.His400Arg)	rs761086326	0.00001
NM_000019.4(ACAT1):c.1200T>C (p.His400=)	rs748749897	0.00001
NM_000019.4(ACAT1):c.171C>A (p.Gly57=)	rs757128075	0.00001
NM_000019.4(ACAT1):c.377G>C (p.Cys126Ser)	rs1278227329	0.00001
NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp)	rs148639841	0.00001
NM_000019.4(ACAT1):c.483T>C (p.Tyr161=)	rs1591367485	0.00001
NM_000019.4(ACAT1):c.578T>G (p.Met193Arg)	rs541517496	0.00001
NM_000019.4(ACAT1):c.826+1G>T	rs727503796	0.00001
NM_000019.4(ACAT1):c.935T>C (p.Ile312Thr)	rs120074146	0.00001
NM_000019.4(ACAT1):c.997G>C (p.Ala333Pro)	rs120074147	0.00001
NM_000022.4(ADA):c.1A>G (p.Met1Val)	rs1363043396	0.00001
NM_000022.4(ADA):c.301C>T (p.Arg101Trp)	rs121908717	0.00001
NM_000022.4(ADA):c.43C>G (p.His15Asp)	rs121908725	0.00001
NM_000022.4(ADA):c.445C>T (p.Arg149Trp)	rs121908733	0.00001
NM_000022.4(ADA):c.466C>T (p.Arg156Cys)	rs121908735	0.00001
NM_000022.4(ADA):c.467G>A (p.Arg156His)	rs121908722	0.00001
NM_000022.4(ADA):c.479-9C>T	rs761848284	0.00001
NM_000022.4(ADA):c.536C>A (p.Ala179Asp)	rs121908727	0.00001
NM_000022.4(ADA):c.58G>A (p.Gly20Arg)	rs121908724	0.00001
NM_000022.4(ADA):c.631C>T (p.Arg211Cys)	rs121908740	0.00001
NM_000022.4(ADA):c.703C>T (p.Arg235Trp)	rs778809577	0.00001
NM_000022.4(ADA):c.845G>A (p.Arg282Gln)	rs751635016	0.00001
NM_000023.4(SGCA):c.157G>A (p.Ala53Thr)	rs60407644	0.00001
NM_000023.4(SGCA):c.190G>A (p.Ala64Thr)	rs759692350	0.00001
NM_000023.4(SGCA):c.289G>C (p.Asp97His)	rs774299871	0.00001
NM_000023.4(SGCA):c.308T>C (p.Ile103Thr)	rs1161291343	0.00001
NM_000023.4(SGCA):c.313-2A>G	rs1057516650	0.00001
NM_000023.4(SGCA):c.37+6T>C	rs751466815	0.00001
NM_000023.4(SGCA):c.393G>A (p.Leu131=)	rs758472374	0.00001
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys)	rs372210292	0.00001
NM_000023.4(SGCA):c.489del (p.Leu164fs)	rs753650776	0.00001
NM_000023.4(SGCA):c.502G>A (p.Gly168Arg)	rs199810179	0.00001
NM_000023.4(SGCA):c.591C>T (p.Tyr197=)	rs756137267	0.00001
NM_000023.4(SGCA):c.700G>A (p.Asp234Asn)	rs760608643	0.00001
NM_000023.4(SGCA):c.851G>A (p.Arg284His)	rs369359375	0.00001
NM_000027.4(AGA):c.395-4C>T	rs530298258	0.00001
NM_000027.4(AGA):c.395-8A>G	rs386833426	0.00001
NM_000027.4(AGA):c.402A>G (p.Thr134=)	rs770449168	0.00001
NM_000027.4(AGA):c.800dup (p.Pro268fs)	rs386833436	0.00001
NM_000027.4(AGA):c.940+1G>T	rs386833437	0.00001
NM_000030.3(AGXT):c.1078C>T (p.Arg360Trp)	rs758493460	0.00001
NM_000030.3(AGXT):c.1079G>A (p.Arg360Gln)	rs180177161	0.00001
NM_000030.3(AGXT):c.107G>A (p.Arg36His)	rs180177162	0.00001
NM_000030.3(AGXT):c.1084G>A (p.Gly362Ser)	rs569643246	0.00001
NM_000030.3(AGXT):c.1151T>C (p.Leu384Pro)	rs180177165	0.00001
NM_000030.3(AGXT):c.122G>T (p.Gly41Val)	rs180177168	0.00001
NM_000030.3(AGXT):c.215A>T (p.Asn72Ile)	rs113879010	0.00001
NM_000030.3(AGXT):c.2T>C (p.Met1Thr)	rs138584408	0.00001
NM_000030.3(AGXT):c.302T>C (p.Leu101Pro)	rs180177195	0.00001
NM_000030.3(AGXT):c.332G>A (p.Arg111Gln)	rs180177203	0.00001
NM_000030.3(AGXT):c.537G>C (p.Leu179=)	rs565927450	0.00001
NM_000030.3(AGXT):c.777-1G>C	rs180177267	0.00001
NM_000033.4(ABCD1):c.1152C>T (p.Ala384=)	rs782095899	0.00001
NM_000033.4(ABCD1):c.1181C>T (p.Ala394Val)	rs1324874967	0.00001
NM_000033.4(ABCD1):c.1245C>T (p.Tyr415=)	rs782742220	0.00001
NM_000033.4(ABCD1):c.1260C>A (p.His420Gln)	rs782066367	0.00001
NM_000033.4(ABCD1):c.1299C>T (p.His433=)	rs782807937	0.00001
NM_000033.4(ABCD1):c.1369G>C (p.Val457Leu)	rs781866876	0.00001
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln)	rs781862879	0.00001
NM_000033.4(ABCD1):c.1893C>T (p.Cys631=)	rs1557055319	0.00001
NM_000033.4(ABCD1):c.566G>A (p.Arg189Gln)	rs1557052417	0.00001
NM_000035.4(ALDOB):c.10C>T (p.Arg4Ter)	rs118204428	0.00001
NM_000035.4(ALDOB):c.243C>T (p.His81=)	rs182003715	0.00001
NM_000035.4(ALDOB):c.2T>C (p.Met1Thr)	rs1270747182	0.00001
NM_000035.4(ALDOB):c.612T>A (p.Tyr204Ter)	rs370793608	0.00001
NM_000046.5(ARSB):c.1350G>C (p.Trp450Cys)	rs555785323	0.00001
NM_000046.5(ARSB):c.1366C>T (p.Gln456Ter)	rs200188234	0.00001
NM_000046.5(ARSB):c.1419G>A (p.Trp473Ter)	rs1234650208	0.00001
NM_000046.5(ARSB):c.1449A>T (p.Glu483Asp)	rs1064793027	0.00001
NM_000046.5(ARSB):c.1504C>T (p.Leu502=)	rs1580961067	0.00001
NM_000046.5(ARSB):c.215T>G (p.Leu72Arg)	rs397514441	0.00001
NM_000046.5(ARSB):c.245del (p.Leu82fs)	rs750845916	0.00001
NM_000046.5(ARSB):c.275C>T (p.Thr92Met)	rs751010538	0.00001
NM_000046.5(ARSB):c.284G>A (p.Arg95Gln)	rs118203942	0.00001
NM_000046.5(ARSB):c.293T>C (p.Leu98Pro)	rs1554032090	0.00001
NM_000046.5(ARSB):c.312G>C (p.Gln104His)	rs1478202079	0.00001
NM_000046.5(ARSB):c.349T>C (p.Cys117Arg)	rs118203939	0.00001
NM_000046.5(ARSB):c.430G>A (p.Gly144Arg)	rs746206847	0.00001
NM_000046.5(ARSB):c.479G>A (p.Arg160Gln)	rs1196325597	0.00001
NM_000046.5(ARSB):c.499G>A (p.Gly167Arg)	rs1554087999	0.00001
NM_000046.5(ARSB):c.666C>T (p.Leu222=)	rs1752122294	0.00001
NM_000046.5(ARSB):c.690+9T>C	rs374880558	0.00001
NM_000046.5(ARSB):c.88C>T (p.Leu30=)	rs766870239	0.00001
NM_000046.5(ARSB):c.944G>A (p.Arg315Gln)	rs727503809	0.00001
NM_000048.4(ASL):c.1128C>A (p.Tyr376Ter)	rs764546937	0.00001
NM_000048.4(ASL):c.1136G>A (p.Arg379His)	rs200853731	0.00001
NM_000048.4(ASL):c.1204G>T (p.Gly402Trp)	rs727503812	0.00001
NM_000048.4(ASL):c.1255_1256del (p.Leu419fs)	rs757109353	0.00001
NM_000048.4(ASL):c.1300G>T (p.Val434Leu)	rs773071023	0.00001
NM_000048.4(ASL):c.175G>A (p.Glu59Lys)	rs869312985	0.00001
NM_000048.4(ASL):c.260A>G (p.Asp87Gly)	rs752100894	0.00001
NM_000048.4(ASL):c.280C>T (p.Arg94Cys)	rs374304304	0.00001
NM_000048.4(ASL):c.281G>A (p.Arg94His)	rs777437569	0.00001
NM_000048.4(ASL):c.283C>T (p.Arg95Cys)	rs28940585	0.00001
NM_000048.4(ASL):c.331C>T (p.Arg111Trp)	rs138310841	0.00001
NM_000048.4(ASL):c.332G>A (p.Arg111Gln)	rs561367199	0.00001
NM_000048.4(ASL):c.437G>A (p.Arg146Gln)	rs796051931	0.00001
NM_000048.4(ASL):c.446+2T>C	rs1268519003	0.00001
NM_000048.4(ASL):c.467C>T (p.Pro156Leu)	rs769017508	0.00001
NM_000048.4(ASL):c.545G>A (p.Arg182Gln)	rs751590073	0.00001
NM_000048.4(ASL):c.566A>G (p.Glu189Gly)	rs756363516	0.00001
NM_000048.4(ASL):c.582C>T (p.Ile194=)	rs746394101	0.00001
NM_000048.4(ASL):c.602+1G>A	rs398123127	0.00001
NM_000048.4(ASL):c.707G>A (p.Arg236Gln)	rs764602422	0.00001
NM_000048.4(ASL):c.722A>C (p.Glu241Ala)	rs924321091	0.00001
NM_000048.4(ASL):c.91G>A (p.Asp31Asn)	rs754995756	0.00001
NM_000048.4(ASL):c.976C>A (p.Gln326Lys)	rs398123129	0.00001
NM_000048.4(ASL):c.978G>C (p.Gln326His)	rs764356037	0.00001
NM_000049.4(ASPA):c.162C>A (p.Asn54Lys)	rs779440632	0.00001
NM_000049.4(ASPA):c.2T>C (p.Met1Thr)	rs1057516879	0.00001
NM_000049.4(ASPA):c.368G>A (p.Gly123Glu)	rs1057521115	0.00001
NM_000049.4(ASPA):c.432G>A (p.Lys144=)	rs754087904	0.00001
NM_000049.4(ASPA):c.448C>T (p.Leu150=)	rs1597432362	0.00001
NM_000049.4(ASPA):c.47T>C (p.Ile16Thr)	rs769653717	0.00001
NM_000049.4(ASPA):c.502C>T (p.Arg168Cys)	rs937670540	0.00001
NM_000049.4(ASPA):c.503G>A (p.Arg168His)	rs770706390	0.00001
NM_000049.4(ASPA):c.539G>T (p.Gly180Val)	rs1014551540	0.00001
NM_000049.4(ASPA):c.541C>A (p.Pro181Thr)	rs786204572	0.00001
NM_000049.4(ASPA):c.634+1G>T	rs753871454	0.00001
NM_000049.4(ASPA):c.770C>G (p.Pro257Arg)	rs377217076	0.00001
NM_000049.4(ASPA):c.807G>A (p.Thr269=)	rs759106494	0.00001
NM_000049.4(ASPA):c.859G>A (p.Ala287Thr)	rs774323189	0.00001
NM_000049.4(ASPA):c.867C>T (p.Tyr289=)	rs375736464	0.00001
NM_000051.4(ATM):c.1029A>G (p.Glu343=)	rs778388800	0.00001
NM_000051.4(ATM):c.1109dup (p.Tyr370Ter)	rs1555069617	0.00001
NM_000051.4(ATM):c.1138T>A (p.Tyr380Asn)	rs34083085	0.00001
NM_000051.4(ATM):c.1234T>C (p.Trp412Arg)	rs587779812	0.00001
NM_000051.4(ATM):c.1295T>A (p.Leu432Gln)	rs546621356	0.00001
NM_000051.4(ATM):c.1339C>T (p.Arg447Ter)	rs587779815	0.00001
NM_000051.4(ATM):c.1607+1G>T	rs772926890	0.00001
NM_000051.4(ATM):c.2023C>T (p.Gln675Ter)	rs777849257	0.00001
NM_000051.4(ATM):c.2251-10T>G	rs730881346	0.00001
NM_000051.4(ATM):c.2377-6T>A	rs876660963	0.00001
NM_000051.4(ATM):c.2838+4A>G	rs876659907	0.00001
NM_000051.4(ATM):c.2839-10A>G	rs770032309	0.00001
NM_000051.4(ATM):c.2945G>A (p.Arg982His)	rs749471737	0.00001
NM_000051.4(ATM):c.2T>C (p.Met1Thr)	rs786203606	0.00001
NM_000051.4(ATM):c.3078-1G>A	rs750663117	0.00001
NM_000051.4(ATM):c.3114A>T (p.Val1038=)	rs374451781	0.00001
NM_000051.4(ATM):c.3137T>C (p.Leu1046Pro)	rs568461905	0.00001
NM_000051.4(ATM):c.3240C>A (p.Asp1080Glu)	rs149911447	0.00001
NM_000051.4(ATM):c.3372C>G (p.Tyr1124Ter)	rs587779833	0.00001
NM_000051.4(ATM):c.3432G>A (p.Leu1144=)	rs1060501625	0.00001
NM_000051.4(ATM):c.3576G>A (p.Lys1192=)	rs587776551	0.00001
NM_000051.4(ATM):c.3577-7C>T	rs558667657	0.00001
NM_000051.4(ATM):c.3848T>C (p.Leu1283Pro)	rs730881389	0.00001
NM_000051.4(ATM):c.3899A>G (p.Tyr1300Cys)	rs183263185	0.00001
NM_000051.4(ATM):c.3G>A (p.Met1Ile)	rs781404312	0.00001
NM_000051.4(ATM):c.43del (p.Gln14_Leu15insTer)	rs771887195	0.00001
NM_000051.4(ATM):c.4467T>C (p.Arg1489=)	rs746296827	0.00001
NM_000051.4(ATM):c.4784A>G (p.Asn1595Ser)	rs777812804	0.00001
NM_000051.4(ATM):c.4909+4C>T	rs587782125	0.00001
NM_000051.4(ATM):c.5039C>T (p.Pro1680Leu)	rs587782153	0.00001
NM_000051.4(ATM):c.5063T>C (p.Ile1688Thr)	rs199836342	0.00001
NM_000051.4(ATM):c.5144T>C (p.Leu1715Pro)	rs747800057	0.00001
NM_000051.4(ATM):c.5178-2A>G	rs2135911500	0.00001
NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter)	rs764389018	0.00001
NM_000051.4(ATM):c.5228C>T (p.Thr1743Ile)	rs587779844	0.00001
NM_000051.4(ATM):c.5290del (p.Leu1764fs)	rs587779846	0.00001
NM_000051.4(ATM):c.5319+2T>C	rs1555105842	0.00001
NM_000051.4(ATM):c.5352_5355del (p.Pro1785fs)	rs1214541502	0.00001
NM_000051.4(ATM):c.5417T>C (p.Ile1806Thr)	rs773546064	0.00001
NM_000051.4(ATM):c.5633C>T (p.Ser1878Leu)	rs758908522	0.00001
NM_000051.4(ATM):c.5644C>T (p.Arg1882Ter)	rs786204433	0.00001
NM_000051.4(ATM):c.5674+6C>G	rs780204400	0.00001
NM_000051.4(ATM):c.5798G>A (p.Trp1933Ter)	rs876658740	0.00001
NM_000051.4(ATM):c.5825C>T (p.Ala1942Val)	rs730881394	0.00001
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys)	rs139770721	0.00001
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys)	rs202206540	0.00001
NM_000051.4(ATM):c.6277C>T (p.Pro2093Ser)	rs946942912	0.00001
NM_000051.4(ATM):c.6997dup	rs587781299	0.00001
NM_000051.4(ATM):c.72+1G>A	rs786204088	0.00001
NM_000051.4(ATM):c.7307+3_7307+4insGTTC	rs587782288	0.00001
NM_000051.4(ATM):c.7328G>A (p.Arg2443Gln)	rs587782310	0.00001
NM_000051.4(ATM):c.742C>T (p.Arg248Ter)	rs730881336	0.00001
NM_000051.4(ATM):c.7502A>G (p.Asn2501Ser)	rs531617441	0.00001
NM_000051.4(ATM):c.7629+2T>C	rs786203059	0.00001
NM_000051.4(ATM):c.76G>C (p.Glu26Gln)	rs730881361	0.00001
NM_000051.4(ATM):c.7880A>G (p.Tyr2627Cys)	rs767670019	0.00001
NM_000051.4(ATM):c.7928-2A>G	rs864622610	0.00001
NM_000051.4(ATM):c.802C>T (p.Gln268Ter)	rs557012154	0.00001
NM_000051.4(ATM):c.8105T>G (p.Ile2702Arg)	rs876659735	0.00001
NM_000051.4(ATM):c.8266A>T (p.Lys2756Ter)	rs371638537	0.00001
NM_000051.4(ATM):c.8293G>A (p.Gly2765Ser)	rs748634900	0.00001
NM_000051.4(ATM):c.8307G>A (p.Trp2769Ter)	rs778269655	0.00001
NM_000051.4(ATM):c.8327T>C (p.Ile2776Thr)	rs746475628	0.00001
NM_000051.4(ATM):c.846A>T (p.Leu282Phe)	rs754008850	0.00001
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys)	rs587779872	0.00001
NM_000051.4(ATM):c.8549T>A (p.Leu2850Ter)	rs876658716	0.00001
NM_000051.4(ATM):c.8584+2T>C	rs730881326	0.00001
NM_000051.4(ATM):c.875C>T (p.Pro292Leu)	rs747727055	0.00001
NM_000051.4(ATM):c.8786+1G>T	rs17174393	0.00001
NM_000051.4(ATM):c.8987+3G>A	rs56360226	0.00001
NM_000051.4(ATM):c.8988-7T>G	rs1487809821	0.00001
NM_000051.4(ATM):c.902-4A>G	rs1416161750	0.00001
NM_000051.4(ATM):c.9023G>A (p.Arg3008His)	rs587781894	0.00001
NM_000051.4(ATM):c.928A>G (p.Ser310Gly)	rs745773225	0.00001
NM_000051.4(ATM):c.967A>G (p.Ile323Val)	rs587781511	0.00001
NM_000052.7(ATP7A):c.2279A>G (p.Tyr760Cys)	rs782006661	0.00001
NM_000053.4(ATP7B):c.1002T>C (p.Ser334=)	rs1951990469	0.00001
NM_000053.4(ATP7B):c.1049C>T (p.Pro350Leu)	rs201855906	0.00001
NM_000053.4(ATP7B):c.1326G>T (p.Gly442=)	rs1371066375	0.00001
NM_000053.4(ATP7B):c.1551C>G (p.Leu517=)	rs866939606	0.00001
NM_000053.4(ATP7B):c.1616C>T (p.Pro539Leu)	rs572122562	0.00001
NM_000053.4(ATP7B):c.1708-5T>G	rs770829226	0.00001
NM_000053.4(ATP7B):c.1772G>A (p.Gly591Asp)	rs797045402	0.00001
NM_000053.4(ATP7B):c.1846C>T (p.Arg616Trp)	rs374172791	0.00001
NM_000053.4(ATP7B):c.1924G>C (p.Asp642His)	rs72552285	0.00001
NM_000053.4(ATP7B):c.1946+6T>C	rs751287778	0.00001
NM_000053.4(ATP7B):c.1969A>C (p.Ser657Arg)	rs372436901	0.00001
NM_000053.4(ATP7B):c.1989T>C (p.Pro663=)	rs1400193241	0.00001
NM_000053.4(ATP7B):c.2108G>A (p.Cys703Tyr)	rs767218895	0.00001
NM_000053.4(ATP7B):c.2131G>T (p.Gly711Trp)	rs1394999756	0.00001
NM_000053.4(ATP7B):c.2165dup (p.Arg723fs)	rs768729972	0.00001
NM_000053.4(ATP7B):c.2267C>T (p.Ala756Val)	rs769927137	0.00001
NM_000053.4(ATP7B):c.2293G>A (p.Asp765Asn)	rs28942075	0.00001
NM_000053.4(ATP7B):c.2294A>G (p.Asp765Gly)	rs1555291147	0.00001
NM_000053.4(ATP7B):c.2297C>T (p.Thr766Met)	rs121907997	0.00001
NM_000053.4(ATP7B):c.2335T>G (p.Trp779Gly)	rs751798708	0.00001
NM_000053.4(ATP7B):c.2383C>T (p.Leu795Phe)	rs751710854	0.00001
NM_000053.4(ATP7B):c.2436T>C (p.Asn812=)	rs533967323	0.00001
NM_000053.4(ATP7B):c.2463C>T (p.Pro821=)	rs755237462	0.00001
NM_000053.4(ATP7B):c.2512A>G (p.Lys838Glu)	rs748113748	0.00001
NM_000053.4(ATP7B):c.2549C>T (p.Thr850Ile)	rs777629392	0.00001
NM_000053.4(ATP7B):c.254G>T (p.Gly85Val)	rs786204643	0.00001
NM_000053.4(ATP7B):c.2570T>C (p.Ile857Thr)	rs1057520235	0.00001
NM_000053.4(ATP7B):c.2575+1G>C	rs766149114	0.00001
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val)	rs121907994	0.00001
NM_000053.4(ATP7B):c.2622G>A (p.Ala874=)	rs896503662	0.00001
NM_000053.4(ATP7B):c.2762G>A (p.Ser921Asn)	rs1230241288	0.00001
NM_000053.4(ATP7B):c.2827G>A (p.Gly943Ser)	rs28942076	0.00001
NM_000053.4(ATP7B):c.2905C>T (p.Arg969Trp)	rs774028495	0.00001
NM_000053.4(ATP7B):c.2924C>A (p.Ser975Tyr)	rs778163447	0.00001
NM_000053.4(ATP7B):c.2975C>T (p.Pro992Leu)	rs201038679	0.00001
NM_000053.4(ATP7B):c.2998G>A (p.Gly1000Arg)	rs751078884	0.00001
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val)	rs775055397	0.00001
NM_000053.4(ATP7B):c.3060+5G>T	rs1353373400	0.00001
NM_000053.4(ATP7B):c.3107dup (p.Arg1038fs)	rs886043423	0.00001
NM_000053.4(ATP7B):c.3109C>T (p.Pro1037Ser)	rs750891085	0.00001
NM_000053.4(ATP7B):c.3123G>C (p.Arg1041=)	rs1192564410	0.00001
NM_000053.4(ATP7B):c.3128T>C (p.Leu1043Pro)	rs1412025509	0.00001
NM_000053.4(ATP7B):c.3221C>T (p.Ala1074Val)	rs1206016866	0.00001
NM_000053.4(ATP7B):c.3243+1G>A	rs748819198	0.00001
NM_000053.4(ATP7B):c.3263T>A (p.Leu1088Ter)	rs753250853	0.00001
NM_000053.4(ATP7B):c.3295G>A (p.Gly1099Ser)	rs761632029	0.00001
NM_000053.4(ATP7B):c.3305T>C (p.Ile1102Thr)	rs560952220	0.00001
NM_000053.4(ATP7B):c.3317T>A (p.Val1106Asp)	rs775541743	0.00001
NM_000053.4(ATP7B):c.331C>T (p.Gln111Ter)	rs774221179	0.00001
NM_000053.4(ATP7B):c.3532A>G (p.Thr1178Ala)	rs1387431334	0.00001
NM_000053.4(ATP7B):c.3547_3548del (p.Ala1183fs)	rs765139243	0.00001
NM_000053.4(ATP7B):c.3551T>C (p.Ile1184Thr)	rs755817220	0.00001
NM_000053.4(ATP7B):c.3556+1G>A	rs184388696	0.00001
NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser)	rs786204547	0.00001
NM_000053.4(ATP7B):c.3557-8C>T	rs765668065	0.00001
NM_000053.4(ATP7B):c.3700-7G>A	rs756742483	0.00001
NM_000053.4(ATP7B):c.3716T>G (p.Val1239Gly)	rs374628199	0.00001
NM_000053.4(ATP7B):c.3784G>T (p.Val1262Phe)	rs769484789	0.00001
NM_000053.4(ATP7B):c.3786C>T (p.Val1262=)	rs375007352	0.00001
NM_000053.4(ATP7B):c.3789C>T (p.Ala1263=)	rs948094111	0.00001
NM_000053.4(ATP7B):c.3842G>A (p.Gly1281Asp)	rs755202606	0.00001
NM_000053.4(ATP7B):c.3863C>T (p.Thr1288Met)	rs373748155	0.00001
NM_000053.4(ATP7B):c.3877G>A (p.Glu1293Lys)	rs776300396	0.00001
NM_000053.4(ATP7B):c.3914T>C (p.Leu1305Pro)	rs377144951	0.00001
NM_000053.4(ATP7B):c.399G>A (p.Trp133Ter)	rs1033235740	0.00001
NM_000053.4(ATP7B):c.4021G>A (p.Gly1341Ser)	rs587783317	0.00001
NM_000053.4(ATP7B):c.4022G>A (p.Gly1341Asp)	rs779494870	0.00001
NM_000053.4(ATP7B):c.4058G>A (p.Trp1353Ter)	rs193922110	0.00001
NM_000053.4(ATP7B):c.4064G>A (p.Gly1355Asp)	rs1305262063	0.00001
NM_000053.4(ATP7B):c.4075A>G (p.Met1359Val)	rs1956914257	0.00001
NM_000053.4(ATP7B):c.4077G>T (p.Met1359Ile)	rs759551693	0.00001
NM_000053.4(ATP7B):c.4150dup (p.Tyr1384fs)	rs1555282316	0.00001
NM_000053.4(ATP7B):c.51+4A>T	rs369488210	0.00001
NM_000053.4(ATP7B):c.562C>T (p.Gln188Ter)	rs1412593296	0.00001
NM_000053.4(ATP7B):c.588C>A (p.Asp196Glu)	rs756718353	0.00001
NM_000053.4(ATP7B):c.909T>G (p.Pro303=)	rs1341159981	0.00001
NM_000057.4(BLM):c.1154del (p.Thr385fs)	rs1409782833	0.00001
NM_000057.4(BLM):c.1220+5C>G	rs1596229075	0.00001
NM_000057.4(BLM):c.1284G>A (p.Trp428Ter)	rs1057516964	0.00001
NM_000057.4(BLM):c.1301C>G (p.Ser434Ter)	rs754203833	0.00001
NM_000057.4(BLM):c.1490A>G (p.Gln497Arg)	rs368547042	0.00001
NM_000057.4(BLM):c.1785A>T (p.Ser595=)	rs79871543	0.00001
NM_000057.4(BLM):c.1833A>G (p.Ser611=)	rs747181657	0.00001
NM_000057.4(BLM):c.1968dup (p.Lys657fs)	rs772785079	0.00001
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs)	rs786204471	0.00001
NM_000057.4(BLM):c.2258T>A (p.Leu753Ter)	rs1400231534	0.00001
NM_000057.4(BLM):c.2308-5C>T	rs957805754	0.00001
NM_000057.4(BLM):c.2488dup (p.Thr830fs)	rs367543019	0.00001
NM_000057.4(BLM):c.2555+8G>A	rs1388713132	0.00001
NM_000057.4(BLM):c.261G>A (p.Lys87=)	rs372668612	0.00001
NM_000057.4(BLM):c.2709C>A (p.Thr903=)	rs1555422522	0.00001
NM_000057.4(BLM):c.3210+4A>G	rs776621429	0.00001
NM_000057.4(BLM):c.3585C>T (p.Ser1195=)	rs1023322113	0.00001
NM_000057.4(BLM):c.3609G>A (p.Ala1203=)	rs151114049	0.00001
NM_000057.4(BLM):c.3660A>G (p.Gly1220=)	rs779564538	0.00001
NM_000057.4(BLM):c.3753A>G (p.Glu1251=)	rs962822215	0.00001
NM_000057.4(BLM):c.3875-2A>G	rs150421256	0.00001
NM_000057.4(BLM):c.3878A>G (p.Glu1293Gly)	rs746979958	0.00001
NM_000057.4(BLM):c.3924A>T (p.Gly1308=)	rs1019687102	0.00001
NM_000057.4(BLM):c.3933C>T (p.Ala1311=)	rs756451802	0.00001
NM_000057.4(BLM):c.4076+3A>G	rs758564326	0.00001
NM_000057.4(BLM):c.437A>T (p.Asp146Val)	rs902876126	0.00001
NM_000057.4(BLM):c.511dup (p.Thr171fs)	rs2505392993	0.00001
NM_000070.3(CAPN3):c.1063C>T (p.Arg355Trp)	rs749099493	0.00001
NM_000070.3(CAPN3):c.1070G>A (p.Arg357Gln)	rs988027905	0.00001
NM_000070.3(CAPN3):c.1194-9A>G	rs374665929	0.00001
NM_000070.3(CAPN3):c.1257T>G (p.Asp419Glu)	rs139836397	0.00001
NM_000070.3(CAPN3):c.1309C>T (p.Arg437Cys)	rs777483913	0.00001
NM_000070.3(CAPN3):c.1318C>T (p.Arg440Trp)	rs777323132	0.00001
NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys)	rs776043976	0.00001
NM_000070.3(CAPN3):c.1343G>A (p.Arg448His)	rs863224956	0.00001
NM_000070.3(CAPN3):c.1381C>T (p.Arg461Cys)	rs1274808359	0.00001
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys)	rs794726871	0.00001
NM_000070.3(CAPN3):c.1465C>T (p.Arg489Trp)	rs863224957	0.00001
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp)	rs142004418	0.00001
NM_000070.3(CAPN3):c.1622G>A (p.Arg541Gln)	rs398123143	0.00001
NM_000070.3(CAPN3):c.1636C>T (p.Arg546Cys)	rs372438001	0.00001
NM_000070.3(CAPN3):c.1650T>C (p.Pro550=)	rs766405190	0.00001
NM_000070.3(CAPN3):c.1696G>A (p.Glu566Lys)	rs747819910	0.00001
NM_000070.3(CAPN3):c.2092C>T (p.Arg698Cys)	rs764370512	0.00001
NM_000070.3(CAPN3):c.2105C>T (p.Ala702Val)	rs886042557	0.00001
NM_000070.3(CAPN3):c.2136C>G (p.Leu712=)	rs781619293	0.00001
NM_000070.3(CAPN3):c.2185-2A>G	rs886041335	0.00001
NM_000070.3(CAPN3):c.2230A>G (p.Ser744Gly)	rs750083132	0.00001
NM_000070.3(CAPN3):c.2259C>T (p.Asp753=)	rs755010088	0.00001
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His)	rs778768583	0.00001
NM_000070.3(CAPN3):c.2440-1G>A	rs886044052	0.00001
NM_000070.3(CAPN3):c.2440-3C>G	rs761757153	0.00001
NM_000070.3(CAPN3):c.264T>G (p.Phe88Leu)	rs760626912	0.00001
NM_000070.3(CAPN3):c.371G>C (p.Gly124Ala)	rs587780291	0.00001
NM_000070.3(CAPN3):c.379+3A>G	rs1164215001	0.00001
NM_000070.3(CAPN3):c.509A>G (p.Tyr170Cys)	rs1555420468	0.00001
NM_000070.3(CAPN3):c.533T>C (p.Ile178Thr)	rs794727615	0.00001
NM_000070.3(CAPN3):c.550A>G (p.Thr184Ala)	rs1159580160	0.00001
NM_000070.3(CAPN3):c.633G>C (p.Lys211Asn)	rs779701414	0.00001
NM_000070.3(CAPN3):c.638A>G (p.His213Arg)	rs768447053	0.00001
NM_000070.3(CAPN3):c.649G>A (p.Glu217Lys)	rs773001194	0.00001
NM_000070.3(CAPN3):c.664G>A (p.Gly222Arg)	rs1345121557	0.00001
NM_000070.3(CAPN3):c.705G>A (p.Val235=)	rs1595822676	0.00001
NM_000070.3(CAPN3):c.755T>C (p.Met252Thr)	rs1555420652	0.00001
NM_000070.3(CAPN3):c.956C>T (p.Pro319Leu)	rs121434547	0.00001
NM_000071.3(CBS):c.1007G>A (p.Arg336His)	rs760417941	0.00001
NM_000071.3(CBS):c.1111G>A (p.Val371Met)	rs372010465	0.00001
NM_000071.3(CBS):c.1136G>A (p.Arg379Gln)	rs763036586	0.00001
NM_000071.3(CBS):c.1512G>A (p.Glu504=)	rs149170219	0.00001
NM_000071.3(CBS):c.1551G>A (p.Gln517=)	rs750311684	0.00001
NM_000071.3(CBS):c.28del (p.Val10fs)	rs779250698	0.00001
NM_000071.3(CBS):c.373C>T (p.Arg125Trp)	rs886057100	0.00001
NM_000071.3(CBS):c.442G>A (p.Gly148Arg)	rs755952006	0.00001
NM_000071.3(CBS):c.473C>T (p.Ala158Val)	rs1376851289	0.00001
NM_000071.3(CBS):c.684C>G (p.Asn228Lys)	rs1464223176	0.00001
NM_000071.3(CBS):c.797G>A (p.Arg266Lys)	rs121964969	0.00001
NM_000071.3(CBS):c.828+1G>A	rs763290176	0.00001
NM_000071.3(CBS):c.982G>A (p.Asp328Asn)	rs758447354	0.00001
NM_000080.4(CHRNE):c.1033-1G>C	rs755303686	0.00001
NM_000080.4(CHRNE):c.1052C>T (p.Pro351Leu)	rs1168592296	0.00001
NM_000080.4(CHRNE):c.183_187dup (p.Leu63fs)	rs776927709	0.00001
NM_000080.4(CHRNE):c.293T>C (p.Leu98Pro)	rs28929768	0.00001
NM_000091.5(COL4A3):c.1372G>C (p.Gly458Arg)	rs757341933	0.00001
NM_000091.5(COL4A3):c.1855G>A (p.Gly619Arg)	rs773515249	0.00001
NM_000091.5(COL4A3):c.1927G>A (p.Gly643Ser)	rs778034451	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.4100G>C (p.Gly1367Ala)	rs886055742	0.00001
NM_000091.5(COL4A3):c.443G>T (p.Gly148Val)	rs775373641	0.00001
NM_000091.5(COL4A3):c.4755+1G>A	rs1346132592	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.1579G>T (p.Gly527Cys)	rs779930511	0.00001
NM_000092.5(COL4A4):c.507G>C (p.Lys169Asn)	rs545808060	0.00001
NM_000094.4(COL7A1):c.1403G>A (p.Arg468His)	rs768672251	0.00001
NM_000094.4(COL7A1):c.1720C>T (p.Arg574Trp)	rs200762860	0.00001
NM_000094.4(COL7A1):c.2202G>A (p.Glu734=)	rs549271654	0.00001
NM_000094.4(COL7A1):c.2557G>A (p.Gly853Ser)	rs773229775	0.00001
NM_000094.4(COL7A1):c.2968C>T (p.Arg990Trp)	rs763751979	0.00001
NM_000094.4(COL7A1):c.3565A>G (p.Met1189Val)	rs546776797	0.00001
NM_000094.4(COL7A1):c.3771G>A (p.Gly1257=)	rs778777140	0.00001
NM_000094.4(COL7A1):c.3831+3G>A	rs767241808	0.00001
NM_000094.4(COL7A1):c.4635+10G>A	rs749722600	0.00001
NM_000094.4(COL7A1):c.5096C>T (p.Pro1699Leu)	rs121912845	0.00001
NM_000094.4(COL7A1):c.5559C>T (p.Asp1853=)	rs776433840	0.00001
NM_000094.4(COL7A1):c.5661G>C (p.Gly1887=)	rs371009419	0.00001
NM_000094.4(COL7A1):c.6045G>A (p.Gly2015=)	rs934784670	0.00001
NM_000094.4(COL7A1):c.6075C>T (p.Gly2025=)	rs763329165	0.00001
NM_000094.4(COL7A1):c.61G>C (p.Val21Leu)	rs377112899	0.00001
NM_000094.4(COL7A1):c.6447C>T (p.Asp2149=)	rs199843749	0.00001
NM_000094.4(COL7A1):c.6884C>T (p.Thr2295Met)	rs757102252	0.00001
NM_000094.4(COL7A1):c.6954T>C (p.Leu2318=)	rs1054273238	0.00001
NM_000094.4(COL7A1):c.8457T>C (p.Tyr2819=)	rs751768659	0.00001
NM_000098.3(CPT2):c.1115A>G (p.His372Arg)	rs1212235186	0.00001
NM_000098.3(CPT2):c.1215C>T (p.Thr405=)	rs1208165579	0.00001
NM_000098.3(CPT2):c.1233G>A (p.Thr411=)	rs112914907	0.00001
NM_000098.3(CPT2):c.1459G>A (p.Glu487Lys)	rs778743524	0.00001
NM_000098.3(CPT2):c.1507C>T (p.Arg503Cys)	rs74315296	0.00001
NM_000098.3(CPT2):c.1536C>T (p.Cys512=)	rs199573389	0.00001
NM_000098.3(CPT2):c.164C>G (p.Pro55Arg)	rs2100259793	0.00001
NM_000098.3(CPT2):c.1665C>G (p.His555Gln)	rs1557719450	0.00001
NM_000098.3(CPT2):c.1774_1775del (p.Leu592fs)	rs767004984	0.00001
NM_000098.3(CPT2):c.1788A>C (p.Ala596=)	rs1436682672	0.00001
NM_000098.3(CPT2):c.1836T>C (p.Val612=)	rs1248709957	0.00001
NM_000098.3(CPT2):c.234-7G>A	rs1260976720	0.00001
NM_000098.3(CPT2):c.36G>C (p.Arg12=)	rs1350688021	0.00001
NM_000098.3(CPT2):c.481C>T (p.Arg161Trp)	rs756839691	0.00001
NM_000098.3(CPT2):c.75del (p.Ser26fs)	rs1057517493	0.00001
NM_000102.4(CYP17A1):c.1073G>A (p.Arg358Gln)	rs104894139	0.00001
NM_000102.4(CYP17A1):c.1085G>A (p.Arg362His)	rs752811843	0.00001
NM_000102.4(CYP17A1):c.1263G>A (p.Ala421=)	rs769188557	0.00001
NM_000102.4(CYP17A1):c.186C>T (p.Pro62=)	rs1844174531	0.00001
NM_000103.4(CYP19A1):c.1094G>A (p.Arg365Gln)	rs80051519	0.00001
NM_000103.4(CYP19A1):c.1123C>T (p.Arg375Cys)	rs121434536	0.00001
NM_000108.5(DLD):c.108A>G (p.Ala36=)	rs1401309256	0.00001
NM_000108.5(DLD):c.1266A>G (p.Pro422=)	rs766756785	0.00001
NM_000108.5(DLD):c.1463C>T (p.Pro488Leu)	rs121964988	0.00001
NM_000108.5(DLD):c.1500T>C (p.Ala500=)	rs773097788	0.00001
NM_000108.5(DLD):c.199-7G>T	rs1358100638	0.00001
NM_000108.5(DLD):c.214A>G (p.Lys72Glu)	rs121964987	0.00001
NM_000108.5(DLD):c.375G>A (p.Glu125=)	rs559057715	0.00001
NM_000108.5(DLD):c.508G>A (p.Gly170Ser)	rs567286177	0.00001
NM_000108.5(DLD):c.803_804del (p.Gln268fs)	rs764611160	0.00001
NM_000108.5(DLD):c.875+1G>A	rs1328820332	0.00001
NM_000108.5(DLD):c.946C>T (p.Arg316Ter)	rs748682601	0.00001
NM_000112.4(SLC26A2):c.145del (p.Arg49fs)	rs1265764649	0.00001
NM_000112.4(SLC26A2):c.1987G>A (p.Gly663Arg)	rs1554095397	0.00001
NM_000126.4(ETFA):c.321C>T (p.His107=)	rs368550471	0.00001
NM_000128.4(F11):c.1021G>A (p.Glu341Lys)	rs281875270	0.00001
NM_000128.4(F11):c.1026G>T (p.Gly342=)	rs768894507	0.00001
NM_000128.4(F11):c.1060G>A (p.Gly354Arg)	rs777714867	0.00001
NM_000128.4(F11):c.1247G>A (p.Cys416Tyr)	rs779802284	0.00001
NM_000128.4(F11):c.1313C>A (p.Ser438Ter)	rs786204724	0.00001
NM_000128.4(F11):c.1432G>A (p.Gly478Arg)	rs542967227	0.00001
NM_000128.4(F11):c.1683C>T (p.Ala561=)	rs770473069	0.00001
NM_000128.4(F11):c.1693G>A (p.Glu565Lys)	rs281875275	0.00001
NM_000128.4(F11):c.365G>A (p.Gly122Asp)	rs369650561	0.00001
NM_000128.4(F11):c.3G>T (p.Met1Ile)	rs755700350	0.00001
NM_000128.4(F11):c.484C>T (p.Arg162Cys)	rs748139184	0.00001
NM_000128.4(F11):c.595+11A>G	rs534170853	0.00001
NM_000128.4(F11):c.595+3A>G	rs933333847	0.00001
NM_000133.4(F9):c.1024A>G (p.Thr342Ala)	rs1603267362	0.00001
NM_000133.4(F9):c.31T>A (p.Ser11Thr)	rs387906480	0.00001
NM_000133.4(F9):c.60A>G (p.Leu20=)	rs762082146	0.00001
NM_000135.4(FANCA):c.1078C>T (p.Arg360Cys)	rs375895456	0.00001
NM_000135.4(FANCA):c.1213C>T (p.Gln405Ter)	rs1280130060	0.00001
NM_000135.4(FANCA):c.1226-2A>G	rs773906241	0.00001
NM_000135.4(FANCA):c.1440C>T (p.Leu480=)	rs1401053307	0.00001
NM_000135.4(FANCA):c.1468C>T (p.Gln490Ter)	rs1266348463	0.00001
NM_000135.4(FANCA):c.1500C>T (p.Pro500=)	rs139276494	0.00001
NM_000135.4(FANCA):c.1634G>T (p.Ser545Ile)	rs200922390	0.00001
NM_000135.4(FANCA):c.1734_1739del (p.Tyr578_Val580delinsTer)	rs757504102	0.00001
NM_000135.4(FANCA):c.1737C>T (p.Tyr579=)	rs529199293	0.00001
NM_000135.4(FANCA):c.1776+1G>A	rs756140957	0.00001
NM_000135.4(FANCA):c.1803G>A (p.Val601=)	rs757053400	0.00001
NM_000135.4(FANCA):c.189+1G>T	rs891323617	0.00001
NM_000135.4(FANCA):c.1964C>G (p.Ala655Gly)	rs1306842168	0.00001
NM_000135.4(FANCA):c.1990A>G (p.Met664Val)	rs748579719	0.00001
NM_000135.4(FANCA):c.2009G>A (p.Arg670His)	rs537923341	0.00001
NM_000135.4(FANCA):c.2125C>G (p.Pro709Ala)	rs746373917	0.00001
NM_000135.4(FANCA):c.2152-10G>C	rs557705265	0.00001
NM_000135.4(FANCA):c.2233dup (p.Trp745fs)	rs2039278551	0.00001
NM_000135.4(FANCA):c.2303T>C (p.Leu768Pro)	rs1490352414	0.00001
NM_000135.4(FANCA):c.2394C>T (p.Leu798=)	rs765883419	0.00001
NM_000135.4(FANCA):c.2417C>T (p.Pro806Leu)	rs1352100383	0.00001
NM_000135.4(FANCA):c.2432G>A (p.Gly811Asp)	rs201152989	0.00001
NM_000135.4(FANCA):c.2534T>C (p.Leu845Pro)	rs1173704265	0.00001
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter)	rs752160950	0.00001
NM_000135.4(FANCA):c.2601+10C>G	rs745601855	0.00001
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro)	rs780825099	0.00001
NM_000135.4(FANCA):c.2738A>C (p.His913Pro)	rs1302083447	0.00001
NM_000135.4(FANCA):c.2779-9C>G	rs764825402	0.00001
NM_000135.4(FANCA):c.2874G>A (p.Ala958=)	rs199916178	0.00001
NM_000135.4(FANCA):c.2941T>C (p.Cys981Arg)	rs191943709	0.00001
NM_000135.4(FANCA):c.3164G>A (p.Arg1055Gln)	rs1429943036	0.00001
NM_000135.4(FANCA):c.3193G>A (p.Val1065Met)	rs140124051	0.00001
NM_000135.4(FANCA):c.3246C>T (p.Leu1082=)	rs753864057	0.00001
NM_000135.4(FANCA):c.3266T>G (p.Val1089Gly)	rs2038476999	0.00001
NM_000135.4(FANCA):c.3270C>T (p.Leu1090=)	rs762719233	0.00001
NM_000135.4(FANCA):c.3274G>A (p.Gly1092Ser)	rs772828870	0.00001
NM_000135.4(FANCA):c.3382C>G (p.Gln1128Glu)	rs1439817346	0.00001
NM_000135.4(FANCA):c.3429G>A (p.Leu1143=)	rs146062039	0.00001
NM_000135.4(FANCA):c.3556A>G (p.Arg1186Gly)	rs748713183	0.00001
NM_000135.4(FANCA):c.356C>G (p.Ser119Cys)	rs751309143	0.00001
NM_000135.4(FANCA):c.3634dup (p.Ser1212fs)	rs1374769712	0.00001
NM_000135.4(FANCA):c.3723C>T (p.Asn1241=)	rs202107465	0.00001
NM_000135.4(FANCA):c.375C>T (p.Cys125=)	rs199793463	0.00001
NM_000135.4(FANCA):c.3858C>T (p.His1286=)	rs761705192	0.00001
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe)	rs753700179	0.00001
NM_000135.4(FANCA):c.39G>C (p.Gln13His)	rs1486155993	0.00001
NM_000135.4(FANCA):c.402T>C (p.Pro134=)	rs745666586	0.00001
NM_000135.4(FANCA):c.4113G>T (p.Gly1371=)	rs1060501882	0.00001
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys)	rs745882980	0.00001
NM_000135.4(FANCA):c.4247C>G (p.Ser1416Ter)	rs940187828	0.00001
NM_000135.4(FANCA):c.580C>T (p.Gln194Ter)	rs1384166265	0.00001
NM_000135.4(FANCA):c.582A>G (p.Gln194=)	rs748517164	0.00001
NM_000135.4(FANCA):c.597-1G>C	rs147945881	0.00001
NM_000135.4(FANCA):c.59G>A (p.Arg20Lys)	rs376307136	0.00001
NM_000135.4(FANCA):c.604G>A (p.Asp202Asn)	rs779131886	0.00001
NM_000135.4(FANCA):c.709+5G>A	rs759877008	0.00001
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter)	rs1291524243	0.00001
NM_000135.4(FANCA):c.913C>T (p.His305Tyr)	rs774054025	0.00001
NM_000135.4(FANCA):c.971T>G (p.Leu324Arg)	rs1447363475	0.00001
NM_000136.3(FANCC):c.1048A>G (p.Met350Val)	rs863224607	0.00001
NM_000136.3(FANCC):c.108_109dup (p.His37fs)	rs1057517131	0.00001
NM_000136.3(FANCC):c.1281C>T (p.Ala427=)	rs754604606	0.00001
NM_000136.3(FANCC):c.1309C>T (p.Gln437Ter)	rs944083227	0.00001
NM_000136.3(FANCC):c.1533+1G>C	rs753885687	0.00001
NM_000136.3(FANCC):c.1628C>A (p.Ser543Ter)	rs867319477	0.00001
NM_000136.3(FANCC):c.339G>A (p.Trp113Ter)	rs1057516291	0.00001
NM_000136.3(FANCC):c.535C>T (p.Arg179Ter)	rs769039987	0.00001
NM_000136.3(FANCC):c.844-1G>C	rs774209201	0.00001
NM_000137.4(FAH):c.1025C>T (p.Pro342Leu)	rs779040832	0.00001
NM_000137.4(FAH):c.296A>G (p.Asp99Gly)	rs547847694	0.00001
NM_000137.4(FAH):c.315-3C>G	rs1171235203	0.00001
NM_000137.4(FAH):c.520C>T (p.Arg174Ter)	rs781496816	0.00001
NM_000137.4(FAH):c.548_553+20del	rs768180953	0.00001
NM_000137.4(FAH):c.742G>A (p.Gly248Arg)	rs774861939	0.00001
NM_000137.4(FAH):c.81+2T>A	rs772895065	0.00001
NM_000137.4(FAH):c.836A>G (p.Gln279Arg)	rs121965078	0.00001
NM_000143.4(FH):c.1048C>T (p.Arg350Trp)	rs755436052	0.00001
NM_000143.4(FH):c.1204C>T (p.His402Tyr)	rs760360724	0.00001
NM_000143.4(FH):c.194A>G (p.Asp65Gly)	rs145116688	0.00001
NM_000143.4(FH):c.697C>T (p.Arg233Cys)	rs587781682	0.00001
NM_000151.4(G6PC1):c.161A>C (p.Gln54Pro)	rs1057517008	0.00001
NM_000151.4(G6PC1):c.231-1G>A	rs1555559279	0.00001
NM_000151.4(G6PC1):c.326G>A (p.Cys109Tyr)	rs886052955	0.00001
NM_000151.4(G6PC1):c.370G>A (p.Ala124Thr)	rs104894568	0.00001
NM_000151.4(G6PC1):c.518T>C (p.Leu173Pro)	rs775826449	0.00001
NM_000151.4(G6PC1):c.665G>C (p.Gly222Ala)	rs515726229	0.00001
NM_000151.4(G6PC1):c.724C>T (p.Gln242Ter)	rs80356485	0.00001
NM_000151.4(G6PC1):c.821C>T (p.Ala274Val)	rs774212157	0.00001
NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys)	rs104894563	0.00001
NM_000151.4(G6PC1):c.884G>A (p.Arg295His)	rs375212414	0.00001
NM_000152.5(GAA):c.-32-3C>A	rs1055945806	0.00001
NM_000152.5(GAA):c.1082C>T (p.Pro361Leu)	rs755253527	0.00001
NM_000152.5(GAA):c.1123C>T (p.Arg375Cys)	rs372486238	0.00001
NM_000152.5(GAA):c.1211A>G (p.Asp404Gly)	rs886042961	0.00001
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe)	rs886043148	0.00001
NM_000152.5(GAA):c.1410C>T (p.Asn470=)	rs886043068	0.00001
NM_000152.5(GAA):c.1411_1414del (p.Glu471fs)	rs770276275	0.00001
NM_000152.5(GAA):c.1441del (p.Trp481fs)	rs1403500889	0.00001
NM_000152.5(GAA):c.1447G>A (p.Gly483Arg)	rs770590394	0.00001
NM_000152.5(GAA):c.1537G>A (p.Asp513Asn)	rs748047271	0.00001
NM_000152.5(GAA):c.1551+1G>T	rs770780848	0.00001
NM_000152.5(GAA):c.1561G>A (p.Glu521Lys)	rs121907937	0.00001
NM_000152.5(GAA):c.1594G>A (p.Gly532Ser)	rs773576381	0.00001
NM_000152.5(GAA):c.1610del (p.Glu537fs)	rs762060817	0.00001
NM_000152.5(GAA):c.172C>T (p.Gln58Ter)	rs201185475	0.00001
NM_000152.5(GAA):c.1796C>A (p.Ser599Tyr)	rs753505203	0.00001
NM_000152.5(GAA):c.1799G>A (p.Arg600His)	rs377544304	0.00001
NM_000152.5(GAA):c.1802C>T (p.Ser601Leu)	rs374470794	0.00001
NM_000152.5(GAA):c.1820G>A (p.Gly607Asp)	rs1393386120	0.00001
NM_000152.5(GAA):c.1826dup (p.Tyr609Ter)	rs786204727	0.00001
NM_000152.5(GAA):c.1827C>T (p.Tyr609=)	rs745754277	0.00001
NM_000152.5(GAA):c.1843G>A (p.Gly615Arg)	rs549029029	0.00001
NM_000152.5(GAA):c.1857C>G (p.Ser619Arg)	rs914396317	0.00001
NM_000152.5(GAA):c.1881C>T (p.Ser627=)	rs779328815	0.00001
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser)	rs536906561	0.00001
NM_000152.5(GAA):c.1958C>A (p.Thr653Asn)	rs763456921	0.00001
NM_000152.5(GAA):c.1962_1964del (p.Glu656del)	rs1030961946	0.00001
NM_000152.5(GAA):c.1A>G (p.Met1Val)	rs786204467	0.00001
NM_000152.5(GAA):c.2040+1G>T	rs1057516928	0.00001
NM_000152.5(GAA):c.2104C>T (p.Arg702Cys)	rs786204645	0.00001
NM_000152.5(GAA):c.2142C>T (p.His714=)	rs779462990	0.00001
NM_000152.5(GAA):c.2236T>G (p.Trp746Gly)	rs1479740763	0.00001
NM_000152.5(GAA):c.2641A>G (p.Arg881Gly)	rs769578772	0.00001
NM_000152.5(GAA):c.2647-7G>A	rs192679574	0.00001
NM_000152.5(GAA):c.265C>T (p.Arg89Cys)	rs534192892	0.00001
NM_000152.5(GAA):c.316C>T (p.Arg106Cys)	rs915675670	0.00001
NM_000152.5(GAA):c.568C>T (p.Arg190Cys)	rs771258854	0.00001
NM_000152.5(GAA):c.615G>A (p.Pro205=)	rs141427808	0.00001
NM_000152.5(GAA):c.670C>T (p.Arg224Trp)	rs757700700	0.00001
NM_000152.5(GAA):c.671G>A (p.Arg224Gln)	rs200210219	0.00001
NM_000152.5(GAA):c.692+5G>T	rs763027848	0.00001
NM_000152.5(GAA):c.701C>T (p.Thr234Met)	rs752054011	0.00001
NM_000152.5(GAA):c.732G>C (p.Gln244His)	rs1178922366	0.00001
NM_000152.5(GAA):c.796C>T (p.Pro266Ser)	rs1555599667	0.00001
NM_000152.5(GAA):c.842G>A (p.Arg281Gln)	rs772607616	0.00001
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys)	rs1057516600	0.00001
NM_000152.5(GAA):c.918G>A (p.Ser306=)	rs373276219	0.00001
NM_000153.4(GALC):c.1244G>A (p.Gly415Glu)	rs1365128831	0.00001
NM_000153.4(GALC):c.1269A>G (p.Leu423=)	rs756070678	0.00001
NM_000153.4(GALC):c.129C>G (p.Tyr43Ter)	rs1057516816	0.00001
NM_000153.4(GALC):c.1541T>C (p.Phe514Ser)	rs375867319	0.00001
NM_000153.4(GALC):c.1572C>T (p.Gly524=)	rs753164684	0.00001
NM_000153.4(GALC):c.1591C>T (p.Arg531Cys)	rs749893889	0.00001
NM_000153.4(GALC):c.1630G>A (p.Asp544Asn)	rs387906952	0.00001
NM_000153.4(GALC):c.1858G>A (p.Gly620Arg)	rs779864190	0.00001
NM_000153.4(GALC):c.1895T>C (p.Leu632Pro)	rs1418694289	0.00001
NM_000153.4(GALC):c.1898C>T (p.Thr633Met)	rs766762599	0.00001
NM_000153.4(GALC):c.1912G>A (p.Gly638Ser)	rs769851272	0.00001
NM_000153.4(GALC):c.1949T>C (p.Leu650Pro)	rs1249991480	0.00001
NM_000153.4(GALC):c.195+1G>A	rs1009872980	0.00001
NM_000153.4(GALC):c.205C>T (p.Arg69Ter)	rs771111145	0.00001
NM_000153.4(GALC):c.236G>A (p.Arg79His)	rs370117160	0.00001
NM_000153.4(GALC):c.328+1G>T	rs779701490	0.00001
NM_000153.4(GALC):c.329-6A>G	rs1279980405	0.00001
NM_000153.4(GALC):c.331G>A (p.Gly111Ser)	rs756690487	0.00001
NM_000153.4(GALC):c.489G>A (p.Trp163Ter)	rs761550284	0.00001
NM_000153.4(GALC):c.516_517del (p.Tyr173fs)	rs1265628439	0.00001
NM_000153.4(GALC):c.560A>T (p.Asp187Val)	rs997021099	0.00001
NM_000153.4(GALC):c.583-6T>A	rs398123176	0.00001
NM_000153.4(GALC):c.592G>A (p.Glu198Lys)	rs909979938	0.00001
NM_000153.4(GALC):c.673G>A (p.Ala225Thr)	rs1436074042	0.00001
NM_000153.4(GALC):c.680A>G (p.Asp227Gly)	rs1886495923	0.00001
NM_000153.4(GALC):c.749T>C (p.Ile250Thr)	rs886039569	0.00001
NM_000153.4(GALC):c.787G>A (p.Ala263Thr)	rs1308816724	0.00001
NM_000153.4(GALC):c.81C>T (p.Ala27=)	rs759433028	0.00001
NM_000153.4(GALC):c.868C>T (p.Arg290Cys)	rs780750448	0.00001
NM_000153.4(GALC):c.908C>T (p.Ser303Phe)	rs756352952	0.00001
NM_000153.4(GALC):c.916G>A (p.Ala306Thr)	rs1349064845	0.00001
NM_000154.2(GALK1):c.106G>C (p.Gly36Arg)	rs1214866139	0.00001
NM_000154.2(GALK1):c.611+1G>T	rs982043960	0.00001
NM_000154.2(GALK1):c.793+1G>T	rs767790909	0.00001
NM_000154.2(GALK1):c.82C>A (p.Pro28Thr)	rs104894572	0.00001
NM_000154.2(GALK1):c.841G>A (p.Val281Met)	rs753571180	0.00001
NM_000154.2(GALK1):c.919_921del (p.Met307del)	rs1247635972	0.00001
NM_000156.6(GAMT):c.224C>T (p.Ala75Val)	rs1441030187	0.00001
NM_000156.6(GAMT):c.328-1G>A	rs756772965	0.00001
NM_000156.6(GAMT):c.407C>T (p.Thr136Met)	rs374724533	0.00001
NM_000156.6(GAMT):c.506G>A (p.Cys169Tyr)	rs121909272	0.00001
NM_000157.4(GBA1):c.1174C>T (p.Arg392Trp)	rs121908308	0.00001
NM_000157.4(GBA1):c.431T>G (p.Leu144Arg)	rs794727708	0.00001
NM_000157.4(GBA1):c.476G>A (p.Arg159Gln)	rs79653797	0.00001
NM_000157.4(GBA1):c.709A>G (p.Lys237Glu)	rs773409311	0.00001
NM_000158.4(GBE1):c.1229T>G (p.Ile410Arg)	rs771405370	0.00001
NM_000158.4(GBE1):c.1239del (p.Asp413fs)	rs758504480	0.00001
NM_000158.4(GBE1):c.1300C>T (p.Arg434Ter)	rs781198373	0.00001
NM_000158.4(GBE1):c.1604A>G (p.Tyr535Cys)	rs886058900	0.00001
NM_000158.4(GBE1):c.1621A>G (p.Asn541Asp)	rs1703086906	0.00001
NM_000158.4(GBE1):c.1693C>T (p.Arg565Trp)	rs552094593	0.00001
NM_000158.4(GBE1):c.1803+2T>C	rs539203557	0.00001
NM_000158.4(GBE1):c.1823_1824del (p.His608fs)	rs1175447973	0.00001
NM_000158.4(GBE1):c.1883A>G (p.His628Arg)	rs137852891	0.00001
NM_000158.4(GBE1):c.2016G>A (p.Glu672=)	rs571448518	0.00001
NM_000158.4(GBE1):c.2081T>A (p.Ile694Asn)	rs1209123501	0.00001
NM_000158.4(GBE1):c.466C>T (p.Arg156Cys)	rs763302311	0.00001
NM_000158.4(GBE1):c.476C>T (p.Pro159Leu)	rs1559676007	0.00001
NM_000158.4(GBE1):c.648T>C (p.Tyr216=)	rs1295929595	0.00001
NM_000158.4(GBE1):c.771T>A (p.Phe257Leu)	rs137852887	0.00001
NM_000158.4(GBE1):c.808C>T (p.Gln270Ter)	rs559653237	0.00001
NM_000158.4(GBE1):c.955C>T (p.His319Tyr)	rs767100121	0.00001
NM_000158.4(GBE1):c.993-1G>T	rs763016962	0.00001
NM_000159.4(GCDH):c.1060G>A (p.Gly354Ser)	rs768925619	0.00001
NM_000159.4(GCDH):c.1082+8C>T	rs199627852	0.00001
NM_000159.4(GCDH):c.1123T>C (p.Cys375Arg)	rs1348974766	0.00001
NM_000159.4(GCDH):c.1169G>C (p.Gly390Ala)	rs778153326	0.00001
NM_000159.4(GCDH):c.1189G>A (p.Glu397Lys)	rs1555751336	0.00001
NM_000159.4(GCDH):c.1199dup (p.Ile401fs)	rs1970722328	0.00001
NM_000159.4(GCDH):c.1213dup (p.Met405fs)	rs1377352983	0.00001
NM_000159.4(GCDH):c.1228G>A (p.Val410Met)	rs760155287	0.00001
NM_000159.4(GCDH):c.148T>G (p.Trp50Gly)	rs758646992	0.00001
NM_000159.4(GCDH):c.198del (p.Ile67fs)	rs1057517088	0.00001
NM_000159.4(GCDH):c.226C>T (p.Gln76Ter)	rs898043081	0.00001
NM_000159.4(GCDH):c.300G>A (p.Met100Ile)	rs759838598	0.00001
NM_000159.4(GCDH):c.356C>T (p.Ser119Leu)	rs886043840	0.00001
NM_000159.4(GCDH):c.368A>G (p.Tyr123Cys)	rs780976048	0.00001
NM_000159.4(GCDH):c.383G>A (p.Arg128Gln)	rs755586631	0.00001
NM_000159.4(GCDH):c.395G>A (p.Arg132Gln)	rs200639270	0.00001
NM_000159.4(GCDH):c.416C>T (p.Ser139Leu)	rs139851890	0.00001
NM_000159.4(GCDH):c.479A>G (p.Gln160Arg)	rs1176799813	0.00001
NM_000159.4(GCDH):c.482G>A (p.Arg161Gln)	rs777201305	0.00001
NM_000159.4(GCDH):c.532G>A (p.Gly178Arg)	rs749452002	0.00001
NM_000159.4(GCDH):c.636-1G>A	rs398123195	0.00001
NM_000159.4(GCDH):c.647C>T (p.Ser216Leu)	rs1449724176	0.00001
NM_000159.4(GCDH):c.763T>C (p.Ser255Pro)	rs1479265777	0.00001
NM_000159.4(GCDH):c.764C>T (p.Ser255Leu)	rs758503371	0.00001
NM_000159.4(GCDH):c.832C>T (p.Pro278Ser)	rs751742575	0.00001
NM_000159.4(GCDH):c.833C>T (p.Pro278Leu)	rs755054282	0.00001
NM_000159.4(GCDH):c.848del (p.Leu283fs)	rs761491320	0.00001
NM_000159.4(GCDH):c.880C>T (p.Arg294Trp)	rs1864390545	0.00001
NM_000159.4(GCDH):c.893C>T (p.Ala298Val)	rs764993096	0.00001
NM_000159.4(GCDH):c.901G>A (p.Val301Met)	rs751186776	0.00001
NM_000159.4(GCDH):c.914C>T (p.Ser305Leu)	rs1260580183	0.00001
NM_000169.3(GLA):c.1196G>C (p.Trp399Ser)	rs782449839	0.00001
NM_000169.3(GLA):c.26A>G (p.His9Arg)	rs1555987214	0.00001
NM_000169.3(GLA):c.330T>G (p.Pro110=)	rs781967285	0.00001
NM_000169.3(GLA):c.596T>C (p.Val199Ala)	rs781871113	0.00001
NM_000170.3(GLDC):c.1117C>T (p.Arg373Trp)	rs150171524	0.00001
NM_000170.3(GLDC):c.1210C>T (p.Leu404=)	rs781450542	0.00001
NM_000170.3(GLDC):c.1367G>A (p.Arg456Gln)	rs767652664	0.00001
NM_000170.3(GLDC):c.1381C>T (p.Arg461Trp)	rs761957837	0.00001
NM_000170.3(GLDC):c.1382G>A (p.Arg461Gln)	rs386833524	0.00001
NM_000170.3(GLDC):c.1416T>C (p.Leu472=)	rs2489084107	0.00001
NM_000170.3(GLDC):c.1443G>C (p.Leu481=)	rs1334045011	0.00001
NM_000170.3(GLDC):c.1679T>C (p.Met560Thr)	rs1366947118	0.00001
NM_000170.3(GLDC):c.1734C>T (p.Asn578=)	rs1034614089	0.00001
NM_000170.3(GLDC):c.1740C>T (p.His580=)	rs1587946346	0.00001
NM_000170.3(GLDC):c.1742C>G (p.Pro581Arg)	rs772871471	0.00001
NM_000170.3(GLDC):c.1786C>T (p.Arg596Ter)	rs386833531	0.00001
NM_000170.3(GLDC):c.1850+7G>A	rs1334727362	0.00001
NM_000170.3(GLDC):c.1852G>A (p.Gly618Arg)	rs758575745	0.00001
NM_000170.3(GLDC):c.2186del (p.Ala729fs)	rs386833543	0.00001
NM_000170.3(GLDC):c.2324A>G (p.His775Arg)	rs386833555	0.00001
NM_000170.3(GLDC):c.245T>C (p.Leu82Ser)	rs386833559	0.00001
NM_000170.3(GLDC):c.2498C>T (p.Ala833Val)	rs1275684568	0.00001
NM_000170.3(GLDC):c.2859C>G (p.Thr953=)	rs1817083513	0.00001
NM_000170.3(GLDC):c.2879G>A (p.Trp960Ter)	rs1410625190	0.00001
NM_000170.3(GLDC):c.2919+1G>A	rs386833575	0.00001
NM_000170.3(GLDC):c.2963G>A (p.Arg988Gln)	rs749512886	0.00001
NM_000170.3(GLDC):c.505T>C (p.Ser169Pro)	rs1356375715	0.00001
NM_000170.3(GLDC):c.63C>A (p.Arg21=)	rs372141443	0.00001
NM_000170.3(GLDC):c.799C>G (p.Pro267Ala)	rs1554648117	0.00001
NM_000170.3(GLDC):c.800C>T (p.Pro267Leu)	rs138484426	0.00001
NM_000170.3(GLDC):c.806C>T (p.Thr269Met)	rs386833587	0.00001
NM_000170.3(GLDC):c.96G>T (p.Pro32=)	rs1430526811	0.00001
NM_000182.5(HADHA):c.1195C>T (p.Arg399Ter)	rs1243779049	0.00001
NM_000182.5(HADHA):c.180+1G>A	rs786205088	0.00001
NM_000182.5(HADHA):c.2107G>A (p.Gly703Arg)	rs200438844	0.00001
NM_000182.5(HADHA):c.871C>T (p.Arg291Ter)	rs137852775	0.00001
NM_000191.3(HMGCL):c.501C>T (p.Tyr167=)	rs200189529	0.00001
NM_000191.3(HMGCL):c.624G>A (p.Val208=)	rs747724373	0.00001
NM_000195.5(HPS1):c.1744-2A>C	rs281865088	0.00001
NM_000195.5(HPS1):c.1858-1G>A	rs758797992	0.00001
NM_000195.5(HPS1):c.2003T>C (p.Leu668Pro)	rs281865090	0.00001
NM_000195.5(HPS1):c.2037G>A (p.Leu679=)	rs773611107	0.00001
NM_000195.5(HPS1):c.398+5G>A	rs281865077	0.00001
NM_000195.5(HPS1):c.987+1G>A	rs913991716	0.00001
NM_000195.5(HPS1):c.988-1G>T	rs764927038	0.00001
NM_000198.4(HSD3B2):c.29C>A (p.Ala10Glu)	rs28934880	0.00001
NM_000198.4(HSD3B2):c.308-9C>T	rs375047799	0.00001
NM_000198.4(HSD3B2):c.385G>A (p.Gly129Arg)	rs587628683	0.00001
NM_000198.4(HSD3B2):c.424G>A (p.Glu142Lys)	rs80358219	0.00001
NM_000198.4(HSD3B2):c.776C>T (p.Thr259Met)	rs80358221	0.00001
NM_000199.5(SGSH):c.1093C>T (p.Gln365Ter)	rs1459579613	0.00001
NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys)	rs104894640	0.00001
NM_000199.5(SGSH):c.1129C>T (p.Arg377Cys)	rs772311757	0.00001
NM_000199.5(SGSH):c.1135del (p.Val379fs)	rs777956287	0.00001
NM_000199.5(SGSH):c.1166A>G (p.Asn389Ser)	rs1555620214	0.00001
NM_000199.5(SGSH):c.1225C>T (p.Gln409Ter)	rs1323958195	0.00001
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln)	rs104894641	0.00001
NM_000199.5(SGSH):c.130G>A (p.Ala44Thr)	rs1057521146	0.00001
NM_000199.5(SGSH):c.1356C>T (p.Ala452=)	rs2041601835	0.00001
NM_000199.5(SGSH):c.1455C>T (p.Gly485=)	rs757563981	0.00001
NM_000199.5(SGSH):c.1500T>C (p.Asn500=)	rs771923742	0.00001
NM_000199.5(SGSH):c.221G>A (p.Arg74His)	rs778336949	0.00001
NM_000199.5(SGSH):c.267C>A (p.Tyr89Ter)	rs1479456289	0.00001
NM_000199.5(SGSH):c.2T>C (p.Met1Thr)	rs1488660868	0.00001
NM_000199.5(SGSH):c.355+9C>T	rs746912493	0.00001
NM_000199.5(SGSH):c.356-6G>A	rs764808311	0.00001
NM_000199.5(SGSH):c.448C>T (p.Arg150Trp)	rs1479831530	0.00001
NM_000199.5(SGSH):c.449G>A (p.Arg150Gln)	rs104894638	0.00001
NM_000199.5(SGSH):c.544C>T (p.Arg182Cys)	rs529855742	0.00001
NM_000199.5(SGSH):c.545G>A (p.Arg182His)	rs372911015	0.00001
NM_000199.5(SGSH):c.548G>A (p.Cys183Tyr)	rs1329133410	0.00001
NM_000199.5(SGSH):c.571G>A (p.Gly191Arg)	rs753666460	0.00001
NM_000199.5(SGSH):c.629G>A (p.Trp210Ter)	rs886041370	0.00001
NM_000199.5(SGSH):c.726C>T (p.Thr242=)	rs1347877363	0.00001
NM_000199.5(SGSH):c.75A>C (p.Ala25=)	rs1262969566	0.00001
NM_000199.5(SGSH):c.798A>G (p.Thr266=)	rs199562202	0.00001
NM_000199.5(SGSH):c.812C>T (p.Thr271Met)	rs746776254	0.00001
NM_000199.5(SGSH):c.813G>A (p.Thr271=)	rs779676466	0.00001
NM_000199.5(SGSH):c.817G>A (p.Asp273Asn)	rs1046551417	0.00001
NM_000199.5(SGSH):c.873T>C (p.Ala291=)	rs940286213	0.00001
NM_000199.5(SGSH):c.911G>T (p.Arg304Leu)	rs745884647	0.00001
NM_000199.5(SGSH):c.93T>C (p.Asp31=)	rs982161788	0.00001
NM_000199.5(SGSH):c.97G>A (p.Gly33Arg)	rs398123246	0.00001
NM_000203.5(IDUA):c.1045G>A (p.Asp349Asn)	rs368454909	0.00001
NM_000203.5(IDUA):c.1148G>A (p.Arg383His)	rs754949360	0.00001
NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys)	rs794727896	0.00001
NM_000203.5(IDUA):c.1186C>T (p.Leu396=)	rs1011474273	0.00001
NM_000203.5(IDUA):c.1190-2A>T	rs994902207	0.00001
NM_000203.5(IDUA):c.1398C>T (p.Gly466=)	rs1370338557	0.00001
NM_000203.5(IDUA):c.1402+1G>T	rs398123254	0.00001
NM_000203.5(IDUA):c.1403-11A>G	rs1335436961	0.00001
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro)	rs121965027	0.00001
NM_000203.5(IDUA):c.1487C>G (p.Pro496Arg)	rs772416503	0.00001
NM_000203.5(IDUA):c.1499A>G (p.Gln500Arg)	rs1715216061	0.00001
NM_000203.5(IDUA):c.1524+1G>A	rs1553917483	0.00001
NM_000203.5(IDUA):c.1722C>T (p.Gly574=)	rs1307428521	0.00001
NM_000203.5(IDUA):c.1828+1G>C	rs919151683	0.00001
NM_000203.5(IDUA):c.227A>G (p.Tyr76Cys)	rs780165694	0.00001
NM_000203.5(IDUA):c.299+10G>A	rs775172497	0.00001
NM_000203.5(IDUA):c.357C>T (p.Asp119=)	rs1262464994	0.00001
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro)	rs794726878	0.00001
NM_000203.5(IDUA):c.544G>A (p.Glu182Lys)	rs754154200	0.00001
NM_000203.5(IDUA):c.603C>T (p.Tyr201=)	rs766574778	0.00001
NM_000203.5(IDUA):c.719A>G (p.His240Arg)	rs1297784711	0.00001
NM_000203.5(IDUA):c.757G>T (p.Gly253Cys)	rs546933529	0.00001
NM_000203.5(IDUA):c.784C>T (p.His262Tyr)	rs375305122	0.00001
NM_000203.5(IDUA):c.87del (p.His30fs)	rs1193085446	0.00001
NM_000203.5(IDUA):c.898G>A (p.Ala300Thr)	rs121965030	0.00001
NM_000203.5(IDUA):c.972+8G>A	rs774327124	0.00001
NM_000203.5(IDUA):c.9C>T (p.Pro3=)	rs1380904636	0.00001
NM_000206.3(IL2RG):c.207C>T (p.Tyr69=)	rs1282558220	0.00001
NM_000206.3(IL2RG):c.311A>T (p.His104Leu)	rs770804846	0.00001
NM_000206.3(IL2RG):c.406C>T (p.Arg136Trp)	rs758080286	0.00001
NM_000206.3(IL2RG):c.798T>C (p.Ser266=)	rs764914063	0.00001
NM_000231.3(SGCG):c.158T>C (p.Leu53Pro)	rs781760379	0.00001
NM_000231.3(SGCG):c.267A>G (p.Pro89=)	rs149595403	0.00001
NM_000231.3(SGCG):c.342dup (p.Ala115fs)	rs1262459682	0.00001
NM_000231.3(SGCG):c.581T>C (p.Leu194Ser)	rs547818652	0.00001
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr)	rs104894422	0.00001
NM_000232.5(SGCB):c.265G>A (p.Val89Met)	rs762652676	0.00001
NM_000232.5(SGCB):c.271C>T (p.Arg91Cys)	rs555514820	0.00001
NM_000232.5(SGCB):c.33+1G>C	rs1553940957	0.00001
NM_000232.5(SGCB):c.355A>T (p.Ile119Phe)	rs762412447	0.00001
NM_000232.5(SGCB):c.452C>G (p.Thr151Arg)	rs28936383	0.00001
NM_000232.5(SGCB):c.499G>A (p.Gly167Ser)	rs779516489	0.00001
NM_000232.5(SGCB):c.544A>C (p.Thr182Pro)	rs751427686	0.00001
NM_000232.5(SGCB):c.621+1G>T	rs1264362642	0.00001
NM_000232.5(SGCB):c.622-2A>G	rs780596734	0.00001
NM_000235.4(LIPA):c.111+1G>A	rs762960877	0.00001
NM_000235.4(LIPA):c.318C>T (p.Phe106=)	rs1438679981	0.00001
NM_000235.4(LIPA):c.386A>G (p.His129Arg)	rs1423914418	0.00001
NM_000237.3(LPL):c.337T>C (p.Trp113Arg)	rs118204069	0.00001
NM_000237.3(LPL):c.590G>A (p.Arg197His)	rs372668179	0.00001
NM_000237.3(LPL):c.784C>T (p.Gln262Ter)	rs1297688787	0.00001
NM_000243.3(MEFV):c.1455G>A (p.Glu485=)	rs958054431	0.00001
NM_000243.3(MEFV):c.1501C>T (p.Arg501Cys)	rs104895101	0.00001
NM_000243.3(MEFV):c.1643C>A (p.Thr548Asn)	rs550970304	0.00001
NM_000243.3(MEFV):c.1899G>A (p.Pro633=)	rs776315170	0.00001
NM_000243.3(MEFV):c.2160C>G (p.Ile720Met)	rs104895102	0.00001
NM_000243.3(MEFV):c.2314A>G (p.Ile772Val)	rs104895163	0.00001
NM_000243.3(MEFV):c.2338C>A (p.Pro780Thr)	rs104895154	0.00001
NM_000243.3(MEFV):c.30G>A (p.Leu10=)	rs553819712	0.00001
NM_000243.3(MEFV):c.405C>T (p.Tyr135=)	rs766323718	0.00001
NM_000243.3(MEFV):c.411C>T (p.Gly137=)	rs1266277814	0.00001
NM_000243.3(MEFV):c.443A>T (p.Glu148Val)	rs104895076	0.00001
NM_000243.3(MEFV):c.48G>A (p.Leu16=)	rs777381107	0.00001
NM_000246.4(CIITA):c.1149C>T (p.Ala383=)	rs748867171	0.00001
NM_000246.4(CIITA):c.1245G>A (p.Val415=)	rs2039185777	0.00001
NM_000246.4(CIITA):c.1518del (p.Gln507fs)	rs2544477641	0.00001
NM_000246.4(CIITA):c.200-9T>C	rs778238111	0.00001
NM_000246.4(CIITA):c.2142A>G (p.Gln714=)	rs188988714	0.00001
NM_000246.4(CIITA):c.2256G>A (p.Glu752=)	rs200577013	0.00001
NM_000246.4(CIITA):c.2816+9A>G	rs2039386253	0.00001
NM_000246.4(CIITA):c.2965C>T (p.Leu989=)	rs1256846733	0.00001
NM_000246.4(CIITA):c.2994G>A (p.Lys998=)	rs1286058878	0.00001
NM_000246.4(CIITA):c.3088C>T (p.Leu1030=)	rs763766993	0.00001
NM_000246.4(CIITA):c.3233+7G>A	rs765558693	0.00001
NM_000246.4(CIITA):c.3264G>A (p.Gly1088=)	rs1357870557	0.00001
NM_000246.4(CIITA):c.3317+1G>A	rs771073292	0.00001
NM_000246.4(CIITA):c.922C>T (p.Arg308Ter)	rs567218474	0.00001
NM_000252.3(MTM1):c.1008T>C (p.His336=)	rs1557414128	0.00001
NM_000252.3(MTM1):c.1080A>G (p.Val360=)	rs782202285	0.00001
NM_000252.3(MTM1):c.1213A>G (p.Ile405Val)	rs373788741	0.00001
NM_000252.3(MTM1):c.1290C>T (p.Thr430=)	rs374725419	0.00001
NM_000252.3(MTM1):c.1353+7A>C	rs782203723	0.00001
NM_000252.3(MTM1):c.783C>T (p.Leu261=)	rs187394611	0.00001
NM_000255.4(MMUT):c.1108A>C (p.Thr370Pro)	rs368790885	0.00001
NM_000255.4(MMUT):c.1208G>A (p.Arg403Gln)	rs774457503	0.00001
NM_000255.4(MMUT):c.1276G>A (p.Gly426Arg)	rs769922244	0.00001
NM_000255.4(MMUT):c.1476C>T (p.Tyr492=)	rs779301267	0.00001
NM_000255.4(MMUT):c.1494C>T (p.Asp498=)	rs752651149	0.00001
NM_000255.4(MMUT):c.1659G>A (p.Val553=)	rs764316430	0.00001
NM_000255.4(MMUT):c.2082G>A (p.Arg694=)	rs752705830	0.00001
NM_000255.4(MMUT):c.2124+1G>A	rs543029288	0.00001
NM_000255.4(MMUT):c.2206C>T (p.Leu736Phe)	rs753461919	0.00001
NM_000255.4(MMUT):c.257C>T (p.Pro86Leu)	rs769348060	0.00001
NM_000255.4(MMUT):c.322C>T (p.Arg108Cys)	rs121918257	0.00001
NM_000255.4(MMUT):c.422C>T (p.Ala141Val)	rs565348836	0.00001
NM_000255.4(MMUT):c.556A>G (p.Met186Val)	rs148331800	0.00001
NM_000255.4(MMUT):c.656A>G (p.Asn219Ser)	rs950211877	0.00001
NM_000255.4(MMUT):c.890C>T (p.Thr297Ile)	rs547709692	0.00001
NM_000260.4(MYO7A):c.1190C>A (p.Ala397Asp)	rs1555067667	0.00001
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter)	rs111033201	0.00001
NM_000260.4(MYO7A):c.2323C>T (p.Gln775Ter)	rs201892914	0.00001
NM_000260.4(MYO7A):c.2697G>A (p.Glu899=)	rs782531164	0.00001
NM_000260.4(MYO7A):c.3262C>T (p.Gln1088Ter)	rs376535635	0.00001
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg)	rs727503329	0.00001
NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg)	rs111033283	0.00001
NM_000263.4(NAGLU):c.1004A>G (p.Tyr335Cys)	rs768918822	0.00001
NM_000263.4(NAGLU):c.1241A>G (p.His414Arg)	rs768814260	0.00001
NM_000263.4(NAGLU):c.1444C>T (p.Arg482Trp)	rs104894596	0.00001
NM_000263.4(NAGLU):c.1445G>A (p.Arg482Gln)	rs200909691	0.00001
NM_000263.4(NAGLU):c.1447dup (p.Tyr483fs)	rs778021009	0.00001
NM_000263.4(NAGLU):c.1487T>C (p.Leu496Pro)	rs569519789	0.00001
NM_000263.4(NAGLU):c.1503G>A (p.Val501=)	rs537078152	0.00001
NM_000263.4(NAGLU):c.1597C>T (p.Arg533Ter)	rs1244655820	0.00001
NM_000263.4(NAGLU):c.1772T>C (p.Leu591Pro)	rs1215582852	0.00001
NM_000263.4(NAGLU):c.1928G>A (p.Arg643His)	rs104894593	0.00001
NM_000263.4(NAGLU):c.1949G>A (p.Gly650Glu)	rs527236037	0.00001
NM_000263.4(NAGLU):c.2116C>T (p.Gln706Ter)	rs752527478	0.00001
NM_000263.4(NAGLU):c.384-1G>A	rs764134891	0.00001
NM_000263.4(NAGLU):c.694C>T (p.Gln232Ter)	rs886043792	0.00001
NM_000263.4(NAGLU):c.874G>A (p.Gly292Arg)	rs1358994052	0.00001
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn)	rs1052471595	0.00001
NM_000271.5(NPC1):c.1070C>T (p.Ser357Leu)	rs1555637232	0.00001
NM_000271.5(NPC1):c.1123A>G (p.Thr375Ala)	rs746372120	0.00001
NM_000271.5(NPC1):c.1133T>C (p.Val378Ala)	rs120074134	0.00001
NM_000271.5(NPC1):c.1165C>T (p.Arg389Cys)	rs1053321823	0.00001
NM_000271.5(NPC1):c.1298C>T (p.Pro433Leu)	rs1064793791	0.00001
NM_000271.5(NPC1):c.1371T>C (p.Tyr457=)	rs779065920	0.00001
NM_000271.5(NPC1):c.1412C>T (p.Pro471Leu)	rs201226297	0.00001
NM_000271.5(NPC1):c.1436G>A (p.Cys479Tyr)	rs1555636659	0.00001
NM_000271.5(NPC1):c.1628C>T (p.Pro543Leu)	rs369368181	0.00001
NM_000271.5(NPC1):c.1990G>A (p.Val664Met)	rs376213990	0.00001
NM_000271.5(NPC1):c.2148A>G (p.Gln716=)	rs774299911	0.00001
NM_000271.5(NPC1):c.2196dup (p.Pro733fs)	rs398123284	0.00001
NM_000271.5(NPC1):c.2269G>A (p.Val757Met)	rs777156729	0.00001
NM_000271.5(NPC1):c.2292G>A (p.Ala764=)	rs772565983	0.00001
NM_000271.5(NPC1):c.2514+9T>C	rs1466320929	0.00001
NM_000271.5(NPC1):c.2522T>A (p.Ile841Lys)	rs1363313204	0.00001
NM_000271.5(NPC1):c.2604+8G>C	rs1258459284	0.00001
NM_000271.5(NPC1):c.2619G>A (p.Val873=)	rs2058689890	0.00001
NM_000271.5(NPC1):c.2728G>A (p.Gly910Ser)	rs768999208	0.00001
NM_000271.5(NPC1):c.2780C>T (p.Ala927Val)	rs753768576	0.00001
NM_000271.5(NPC1):c.2833G>A (p.Asp945Asn)	rs1428599096	0.00001
NM_000271.5(NPC1):c.2848G>A (p.Val950Met)	rs120074135	0.00001
NM_000271.5(NPC1):c.2849T>G (p.Val950Gly)	rs1057517978	0.00001
NM_000271.5(NPC1):c.2932C>T (p.Arg978Cys)	rs28942108	0.00001
NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs)	rs756815030	0.00001
NM_000271.5(NPC1):c.3001A>G (p.Met1001Val)	rs2058666849	0.00001
NM_000271.5(NPC1):c.3107C>T (p.Thr1036Met)	rs28942104	0.00001
NM_000271.5(NPC1):c.3120C>T (p.Thr1040=)	rs760268986	0.00001
NM_000271.5(NPC1):c.3175C>T (p.Arg1059Ter)	rs786204455	0.00001
NM_000271.5(NPC1):c.3246-2A>G	rs886042268	0.00001
NM_000271.5(NPC1):c.3259T>C (p.Phe1087Leu)	rs746715353	0.00001
NM_000271.5(NPC1):c.3281T>C (p.Ile1094Thr)	rs1338658857	0.00001
NM_000271.5(NPC1):c.3566A>G (p.Glu1189Gly)	rs369098773	0.00001
NM_000271.5(NPC1):c.3591+1G>A	rs786200877	0.00001
NM_000271.5(NPC1):c.3591+4del	rs794727371	0.00001
NM_000271.5(NPC1):c.3637T>G (p.Leu1213Val)	rs766178353	0.00001
NM_000271.5(NPC1):c.410C>T (p.Thr137Met)	rs372947142	0.00001
NM_000271.5(NPC1):c.530G>A (p.Cys177Tyr)	rs80358252	0.00001
NM_000271.5(NPC1):c.721C>T (p.Gln241Ter)	rs1064795718	0.00001
NM_000274.4(OAT):c.1058G>A (p.Gly353Asp)	rs121965053	0.00001
NM_000274.4(OAT):c.272G>A (p.Gly91Glu)	rs386833603	0.00001
NM_000274.4(OAT):c.606G>A (p.Pro202=)	rs369806549	0.00001
NM_000274.4(OAT):c.677C>T (p.Ala226Val)	rs121965059	0.00001
NM_000274.4(OAT):c.721_722dup (p.Asp242fs)	rs1468939642	0.00001
NM_000274.4(OAT):c.722C>T (p.Pro241Leu)	rs121965051	0.00001
NM_000274.4(OAT):c.748C>T (p.Arg250Ter)	rs386833617	0.00001
NM_000274.4(OAT):c.796C>T (p.Gln266Ter)	rs1951458291	0.00001
NM_000274.4(OAT):c.800C>T (p.Thr267Ile)	rs386833618	0.00001
NM_000274.4(OAT):c.952G>A (p.Glu318Lys)	rs386833621	0.00001
NM_000274.4(OAT):c.991C>T (p.Arg331Ter)	rs386833623	0.00001
NM_000277.3(PAH):c.1033G>T (p.Ala345Ser)	rs62516062	0.00001
NM_000277.3(PAH):c.1123C>G (p.Gln375Glu)	rs184148104	0.00001
NM_000277.3(PAH):c.1124A>G (p.Gln375Arg)	rs1874694173	0.00001
NM_000277.3(PAH):c.1136T>C (p.Val379Ala)	rs746203167	0.00001
NM_000277.3(PAH):c.1159T>C (p.Tyr387His)	rs62517194	0.00001
NM_000277.3(PAH):c.1174T>A (p.Phe392Ile)	rs180819807	0.00001
NM_000277.3(PAH):c.1184C>G (p.Ala395Gly)	rs62508736	0.00001
NM_000277.3(PAH):c.1199+17G>A	rs62508613	0.00001
NM_000277.3(PAH):c.1200-1G>A	rs62507322	0.00001
NM_000277.3(PAH):c.1240T>C (p.Tyr414His)	rs281865437	0.00001
NM_000277.3(PAH):c.140C>T (p.Ala47Val)	rs118203925	0.00001
NM_000277.3(PAH):c.155T>C (p.Leu52Ser)	rs199475630	0.00001
NM_000277.3(PAH):c.168+1G>A	rs62514898	0.00001
NM_000277.3(PAH):c.169-13T>G	rs62507341	0.00001
NM_000277.3(PAH):c.183C>G (p.Asn61Lys)	rs199475634	0.00001
NM_000277.3(PAH):c.198A>G (p.Glu66=)	rs117308669	0.00001
NM_000277.3(PAH):c.1A>G (p.Met1Val)	rs62514891	0.00001
NM_000277.3(PAH):c.212G>A (p.Arg71His)	rs62508695	0.00001
NM_000277.3(PAH):c.275C>T (p.Thr92Ile)	rs62514903	0.00001
NM_000277.3(PAH):c.281T>G (p.Ile94Ser)	rs62508677	0.00001
NM_000277.3(PAH):c.320A>G (p.His107Arg)	rs542645236	0.00001
NM_000277.3(PAH):c.386A>G (p.Asp129Gly)	rs199475623	0.00001
NM_000277.3(PAH):c.441+4A>G	rs62508586	0.00001
NM_000277.3(PAH):c.442-5C>G	rs62514909	0.00001
NM_000277.3(PAH):c.442G>A (p.Gly148Ser)	rs80297647	0.00001
NM_000277.3(PAH):c.463C>T (p.Arg155Cys)	rs539743701	0.00001
NM_000277.3(PAH):c.490A>G (p.Ile164Val)	rs199475647	0.00001
NM_000277.3(PAH):c.493G>A (p.Ala165Thr)	rs199475626	0.00001
NM_000277.3(PAH):c.505C>T (p.Arg169Cys)	rs281865440	0.00001
NM_000277.3(PAH):c.509+17T>C	rs1875973025	0.00001
NM_000277.3(PAH):c.511G>A (p.Gly171Arg)	rs199475613	0.00001
NM_000277.3(PAH):c.520A>G (p.Ile174Val)	rs199475632	0.00001
NM_000277.3(PAH):c.558_559del (p.Trp187fs)	rs62517207	0.00001
NM_000277.3(PAH):c.561G>A (p.Trp187Ter)	rs62507336	0.00001
NM_000277.3(PAH):c.601C>T (p.His201Tyr)	rs62517205	0.00001
NM_000277.3(PAH):c.612T>C (p.Tyr204=)	rs62514928	0.00001
NM_000277.3(PAH):c.716G>T (p.Gly239Val)	rs62507283	0.00001
NM_000277.3(PAH):c.728G>A (p.Arg243Gln)	rs62508588	0.00001
NM_000277.3(PAH):c.737C>T (p.Ala246Val)	rs199475610	0.00001
NM_000277.3(PAH):c.755G>A (p.Arg252Gln)	rs62644503	0.00001
NM_000277.3(PAH):c.776C>T (p.Ala259Val)	rs118203921	0.00001
NM_000277.3(PAH):c.811C>T (p.His271Tyr)	rs62517164	0.00001
NM_000277.3(PAH):c.818C>T (p.Ser273Phe)	rs62514953	0.00001
NM_000277.3(PAH):c.827T>C (p.Met276Thr)	rs62508722	0.00001
NM_000277.3(PAH):c.842+3G>C	rs62507324	0.00001
NM_000277.3(PAH):c.859C>G (p.Leu287Val)	rs781096854	0.00001
NM_000277.3(PAH):c.889C>T (p.Arg297Cys)	rs62642945	0.00001
NM_000277.3(PAH):c.922C>T (p.Leu308Phe)	rs62642095	0.00001
NM_000277.3(PAH):c.926C>T (p.Ala309Val)	rs62642935	0.00001
NM_000277.3(PAH):c.932T>C (p.Leu311Pro)	rs62642936	0.00001
NM_000277.3(PAH):c.938C>T (p.Ala313Val)	rs62642914	0.00001
NM_000277.3(PAH):c.968_970del (p.Thr323del)	rs199475618	0.00001
NM_000277.3(PAH):c.974A>G (p.Tyr325Cys)	rs62508578	0.00001
NM_000277.3(PAH):c.982A>G (p.Thr328Ala)	rs199475616	0.00001
NM_000282.4(PCCA):c.1118T>A (p.Met373Lys)	rs121964958	0.00001
NM_000282.4(PCCA):c.1268C>T (p.Pro423Leu)	rs1443858896	0.00001
NM_000282.4(PCCA):c.1426C>T (p.Arg476Ter)	rs768703749	0.00001
NM_000282.4(PCCA):c.1540+1G>C	rs199604072	0.00001
NM_000282.4(PCCA):c.1593_1595del (p.Leu532del)	rs937519016	0.00001
NM_000282.4(PCCA):c.1746G>A (p.Ser582=)	rs192171304	0.00001
NM_000282.4(PCCA):c.1929C>T (p.Ala643=)	rs772945583	0.00001
NM_000282.4(PCCA):c.2002G>A (p.Gly668Arg)	rs771438170	0.00001
NM_000282.4(PCCA):c.2041-2A>G	rs776281864	0.00001
NM_000282.4(PCCA):c.2056G>T (p.Glu686Ter)	rs1241896966	0.00001
NM_000282.4(PCCA):c.2119-9A>G	rs1389933015	0.00001
NM_000282.4(PCCA):c.223G>C (p.Ala75Pro)	rs794727479	0.00001
NM_000282.4(PCCA):c.230G>A (p.Arg77Gln)	rs1387778734	0.00001
NM_000282.4(PCCA):c.231+1G>C	rs972937270	0.00001
NM_000282.4(PCCA):c.2dup (p.Met1fs)	rs1179536678	0.00001
NM_000282.4(PCCA):c.54G>A (p.Gly18=)	rs1373903905	0.00001
NM_000282.4(PCCA):c.600+1G>A	rs879253802	0.00001
NM_000282.4(PCCA):c.688C>T (p.Arg230Cys)	rs778530330	0.00001
NM_000282.4(PCCA):c.863G>A (p.Arg288Lys)	rs879253810	0.00001
NM_000282.4(PCCA):c.864A>G (p.Arg288=)	rs771222501	0.00001
NM_000282.4(PCCA):c.878A>G (p.Gln293Arg)	rs879253805	0.00001
NM_000282.4(PCCA):c.893A>G (p.Lys298Arg)	rs1444049793	0.00001
NM_000284.4(PDHA1):c.1062G>T (p.Thr354=)	rs147510382	0.00001
NM_000284.4(PDHA1):c.873A>T (p.Gly291=)	rs1248347868	0.00001
NM_000287.4(PEX6):c.2435G>A (p.Arg812Gln)	rs61753229	0.00001
NM_000289.6(PFKM):c.1005A>G (p.Val335=)	rs1454843075	0.00001
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln)	rs187131358	0.00001
NM_000289.6(PFKM):c.1294C>T (p.Arg432Ter)	rs41291965	0.00001
NM_000289.6(PFKM):c.1500+1G>A	rs770066278	0.00001
NM_000289.6(PFKM):c.1761A>G (p.Ala587=)	rs1950696961	0.00001
NM_000303.3(PMM2):c.124G>A (p.Gly42Arg)	rs755402538	0.00001
NM_000303.3(PMM2):c.178G>T (p.Val60Leu)	rs759513930	0.00001
NM_000303.3(PMM2):c.253C>T (p.Gln85Ter)	rs1189623251	0.00001
NM_000303.3(PMM2):c.255G>A (p.Gln85=)	rs115344041	0.00001
NM_000303.3(PMM2):c.284del (p.Leu95fs)	rs757865122	0.00001
NM_000303.3(PMM2):c.391C>G (p.Pro131Ala)	rs1274547742	0.00001
NM_000303.3(PMM2):c.43G>A (p.Gly15Arg)	rs767831048	0.00001
NM_000303.3(PMM2):c.457A>G (p.Ile153Val)	rs1596489094	0.00001
NM_000303.3(PMM2):c.458T>C (p.Ile153Thr)	rs150577656	0.00001
NM_000303.3(PMM2):c.52A>C (p.Thr18Pro)	rs757040733	0.00001
NM_000303.3(PMM2):c.531G>C (p.Gln177His)	rs771162235	0.00001
NM_000303.3(PMM2):c.53C>G (p.Thr18Ser)	rs760265100	0.00001
NM_000303.3(PMM2):c.563A>G (p.Asp188Gly)	rs80338704	0.00001
NM_000303.3(PMM2):c.580C>T (p.Arg194Ter)	rs199562225	0.00001
NM_000303.3(PMM2):c.58C>T (p.Pro20Ser)	rs949271895	0.00001
NM_000303.3(PMM2):c.623G>C (p.Gly208Ala)	rs398123309	0.00001
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser)	rs78290141	0.00001
NM_000303.3(PMM2):c.66+1G>T	rs937726878	0.00001
NM_000310.4(PPT1):c.124+1G>A	rs386833628	0.00001
NM_000310.4(PPT1):c.12C>T (p.Pro4=)	rs140289866	0.00001
NM_000310.4(PPT1):c.272A>C (p.Gln91Pro)	rs386833639	0.00001
NM_000310.4(PPT1):c.325T>G (p.Tyr109Asp)	rs386833642	0.00001
NM_000310.4(PPT1):c.424C>T (p.Gln142Ter)	rs796052925	0.00001
NM_000310.4(PPT1):c.490C>T (p.Arg164Ter)	rs386833649	0.00001
NM_000310.4(PPT1):c.550G>A (p.Glu184Lys)	rs386833655	0.00001
NM_000310.4(PPT1):c.628-1G>T	rs386833659	0.00001
NM_000310.4(PPT1):c.722C>T (p.Ser241Leu)	rs746043871	0.00001
NM_000310.4(PPT1):c.739T>C (p.Tyr247His)	rs386833665	0.00001
NM_000310.4(PPT1):c.776dup (p.Glu260fs)	rs1349528345	0.00001
NM_000317.3(PTS):c.146A>G (p.His49Arg)	rs750229518	0.00001
NM_000317.3(PTS):c.155A>G (p.Asn52Ser)	rs104894275	0.00001
NM_000317.3(PTS):c.187A>G (p.Ile63Val)	rs778053171	0.00001
NM_000317.3(PTS):c.216T>A (p.Asn72Lys)	rs200279736	0.00001
NM_000317.3(PTS):c.228C>T (p.Leu76=)	rs772713545	0.00001
NM_000317.3(PTS):c.260C>T (p.Pro87Leu)	rs765406631	0.00001
NM_000317.3(PTS):c.297C>A (p.Tyr99Ter)	rs145882709	0.00001
NM_000317.3(PTS):c.367C>T (p.Pro123Ser)	rs141163668	0.00001
NM_000317.3(PTS):c.407A>T (p.Asp136Val)	rs1859972447	0.00001
NM_000317.3(PTS):c.74_76dup (p.Leu26Ter)	rs765777664	0.00001
NM_000317.3(PTS):c.95G>A (p.Ser32Asn)	rs374871539	0.00001
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser)	rs61752909	0.00001
NM_000329.3(RPE65):c.917C>T (p.Thr306Ile)	rs1171545533	0.00001
NM_000330.4(RS1):c.304C>T (p.Arg102Trp)	rs61752067	0.00001
NM_000349.3(STAR):c.229C>T (p.Gln77Ter)	rs781281145	0.00001
NM_000349.3(STAR):c.465+2T>C	rs777876822	0.00001
NM_000349.3(STAR):c.545G>A (p.Arg182His)	rs104894086	0.00001
NM_000349.3(STAR):c.559G>A (p.Val187Met)	rs104894089	0.00001
NM_000352.6(ABCC8):c.1008C>G (p.Pro336=)	rs1199327855	0.00001
NM_000352.6(ABCC8):c.1095C>T (p.Ala365=)	rs1256418853	0.00001
NM_000352.6(ABCC8):c.1183A>T (p.Ile395Phe)	rs542947894	0.00001
NM_000352.6(ABCC8):c.1332G>T (p.Gln444His)	rs760062120	0.00001
NM_000352.6(ABCC8):c.1512C>T (p.Arg504=)	rs148811815	0.00001
NM_000352.6(ABCC8):c.1576C>T (p.Arg526Cys)	rs751279984	0.00001
NM_000352.6(ABCC8):c.1869G>A (p.Gln623=)	rs1487225445	0.00001
NM_000352.6(ABCC8):c.2202del (p.Ala736fs)	rs1554924035	0.00001
NM_000352.6(ABCC8):c.2391-5G>A	rs370096884	0.00001
NM_000352.6(ABCC8):c.2522G>A (p.Arg841Gln)	rs547150342	0.00001
NM_000352.6(ABCC8):c.255G>A (p.Leu85=)	rs1323334420	0.00001
NM_000352.6(ABCC8):c.2619T>G (p.Leu873=)	rs756718678	0.00001
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter)	rs541269678	0.00001
NM_000352.6(ABCC8):c.2973G>A (p.Gln991=)	rs369865194	0.00001
NM_000352.6(ABCC8):c.3107G>A (p.Trp1036Ter)	rs755259997	0.00001
NM_000352.6(ABCC8):c.331G>A (p.Gly111Arg)	rs761749884	0.00001
NM_000352.6(ABCC8):c.338C>T (p.Ala113Val)	rs2133711315	0.00001
NM_000352.6(ABCC8):c.3502T>C (p.Leu1168=)	rs565968675	0.00001
NM_000352.6(ABCC8):c.3654T>C (p.Tyr1218=)	rs769968875	0.00001
NM_000352.6(ABCC8):c.3784G>A (p.Ala1262Thr)	rs1266053680	0.00001
NM_000352.6(ABCC8):c.382G>A (p.Glu128Lys)	rs781617345	0.00001
NM_000352.6(ABCC8):c.3868-10C>T	rs2133409266	0.00001
NM_000352.6(ABCC8):c.4119+10C>T	rs201955628	0.00001
NM_000352.6(ABCC8):c.4177C>T (p.Arg1393Cys)	rs776610373	0.00001
NM_000352.6(ABCC8):c.4252C>T (p.Arg1418Cys)	rs1468762603	0.00001
NM_000352.6(ABCC8):c.4296C>T (p.Ser1432=)	rs752222583	0.00001
NM_000352.6(ABCC8):c.4478G>A (p.Arg1493Gln)	rs746480424	0.00001
NM_000352.6(ABCC8):c.4491G>A (p.Arg1497=)	rs778997556	0.00001
NM_000352.6(ABCC8):c.4628T>C (p.Leu1543Pro)	rs72559713	0.00001
NM_000352.6(ABCC8):c.4713C>T (p.Ser1571=)	rs747402972	0.00001
NM_000352.6(ABCC8):c.487G>A (p.Gly163Ser)	rs574487898	0.00001
NM_000352.6(ABCC8):c.502C>T (p.Arg168Cys)	rs756823374	0.00001
NM_000352.6(ABCC8):c.536_539del (p.Leu178_Tyr179insTer)	rs770664202	0.00001
NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp)	rs863225280	0.00001
NM_000352.6(ABCC8):c.928G>A (p.Asp310Asn)	rs769569410	0.00001
NM_000352.6(ABCC8):c.970G>A (p.Val324Met)	rs1328072266	0.00001
NM_000359.3(TGM1):c.1075G>A (p.Val359Met)	rs202037016	0.00001
NM_000359.3(TGM1):c.1186C>T (p.Arg396Cys)	rs543521135	0.00001
NM_000359.3(TGM1):c.1417G>A (p.Gly473Ser)	rs904122716	0.00001
NM_000359.3(TGM1):c.1645+1G>T	rs774242987	0.00001
NM_000359.3(TGM1):c.1744C>T (p.Gln582Ter)	rs397514522	0.00001
NM_000359.3(TGM1):c.184G>T (p.Gly62Ter)	rs886041950	0.00001
NM_000359.3(TGM1):c.2059C>T (p.Arg687Cys)	rs147516124	0.00001
NM_000359.3(TGM1):c.2290C>T (p.Arg764Cys)	rs201853046	0.00001
NM_000359.3(TGM1):c.379C>T (p.Arg127Ter)	rs886041250	0.00001
NM_000359.3(TGM1):c.401A>G (p.Tyr134Cys)	rs147916609	0.00001
NM_000359.3(TGM1):c.424C>T (p.Arg142Cys)	rs121918716	0.00001
NM_000359.3(TGM1):c.428G>A (p.Arg143His)	rs121918719	0.00001
NM_000359.3(TGM1):c.430G>A (p.Gly144Arg)	rs778635368	0.00001
NM_000359.3(TGM1):c.579G>A (p.Trp193Ter)	rs199678720	0.00001
NM_000359.3(TGM1):c.652G>A (p.Gly218Ser)	rs121918732	0.00001
NM_000359.3(TGM1):c.790C>T (p.Arg264Trp)	rs201868387	0.00001
NM_000359.3(TGM1):c.802del (p.Val268fs)	rs1322979131	0.00001
NM_000359.3(TGM1):c.872G>A (p.Gly291Asp)	rs780990272	0.00001
NM_000360.4(TH):c.1077G>A (p.Ser359=)	rs759797905	0.00001
NM_000360.4(TH):c.1103C>T (p.Thr368Met)	rs1057520384	0.00001
NM_000360.4(TH):c.1118C>T (p.Thr373Met)	rs868563700	0.00001
NM_000360.4(TH):c.1141C>A (p.Gln381Lys)	rs121917762	0.00001
NM_000360.4(TH):c.1215G>A (p.Glu405=)	rs1590165298	0.00001
NM_000360.4(TH):c.1233C>T (p.Ala411=)	rs768695630	0.00001
NM_000360.4(TH):c.1282C>T (p.Gln428Ter)	rs786204540	0.00001
NM_000360.4(TH):c.1290C>T (p.Val430=)	rs367962981	0.00001
NM_000360.4(TH):c.195G>A (p.Gly65=)	rs145628270	0.00001
NM_000360.4(TH):c.203del (p.Leu68fs)	rs1554923852	0.00001
NM_000360.4(TH):c.477G>A (p.Ala159=)	rs1217513263	0.00001
NM_000360.4(TH):c.576+10G>A	rs775488025	0.00001
NM_000360.4(TH):c.5C>T (p.Pro2Leu)	rs139474171	0.00001
NM_000360.4(TH):c.604C>T (p.Arg202Cys)	rs1021029193	0.00001
NM_000360.4(TH):c.614T>C (p.Leu205Pro)	rs121917763	0.00001
NM_000360.4(TH):c.641G>T (p.Arg214Met)	rs562363231	0.00001
NM_000360.4(TH):c.644+8G>C	rs776723483	0.00001
NM_000360.4(TH):c.646G>A (p.Gly216Ser)	rs762304556	0.00001
NM_000360.4(TH):c.648C>T (p.Gly216=)	rs774810612	0.00001
NM_000360.4(TH):c.769T>C (p.Leu257=)	rs138787428	0.00001
NM_000360.4(TH):c.850G>A (p.Gly284Ser)	rs1288483479	0.00001
NM_000360.4(TH):c.907C>T (p.Leu303=)	rs1229760285	0.00001
NM_000360.4(TH):c.977+9G>C	rs752199740	0.00001
NM_000370.3(TTPA):c.175C>T (p.Arg59Trp)	rs397515522	0.00001
NM_000370.3(TTPA):c.2T>C (p.Met1Thr)	rs786204758	0.00001
NM_000370.3(TTPA):c.421G>A (p.Glu141Lys)	rs397515524	0.00001
NM_000370.3(TTPA):c.552G>A (p.Thr184=)	rs181109321	0.00001
NM_000382.3(ALDH3A2):c.1157A>G (p.Asn386Ser)	rs72547575	0.00001
NM_000382.3(ALDH3A2):c.1339A>G (p.Lys447Glu)	rs67939114	0.00001
NM_000382.3(ALDH3A2):c.1443+1G>A	rs199548781	0.00001
NM_000382.3(ALDH3A2):c.623T>C (p.Leu208Pro)	rs786205501	0.00001
NM_000382.3(ALDH3A2):c.682C>T (p.Arg228Cys)	rs72547566	0.00001
NM_000383.4(AIRE):c.1067G>A (p.Arg356Gln)	rs752432041	0.00001
NM_000383.4(AIRE):c.1161C>T (p.Gly387=)	rs372895437	0.00001
NM_000383.4(AIRE):c.1295_1296insA (p.Arg433fs)	rs763695515	0.00001
NM_000383.4(AIRE):c.1338T>C (p.Cys446=)	rs979048802	0.00001
NM_000383.4(AIRE):c.21A>G (p.Leu7=)	rs1347611962	0.00001
NM_000383.4(AIRE):c.312G>A (p.Val104=)	rs752433552	0.00001
NM_000383.4(AIRE):c.44G>T (p.Arg15Leu)	rs179363876	0.00001
NM_000383.4(AIRE):c.463+2T>C	rs786204478	0.00001
NM_000383.4(AIRE):c.62C>T (p.Ala21Val)	rs179363886	0.00001
NM_000383.4(AIRE):c.83T>C (p.Leu28Pro)	rs179363878	0.00001
NM_000383.4(AIRE):c.840C>T (p.Pro280=)	rs772423300	0.00001
NM_000383.4(AIRE):c.843C>T (p.Ala281=)	rs769454980	0.00001
NM_000383.4(AIRE):c.90C>T (p.His30=)	rs754316070	0.00001
NM_000383.4(AIRE):c.977C>T (p.Pro326Leu)	rs179363885	0.00001
NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln)	rs765380155	0.00001
NM_000391.4(TPP1):c.1076-2A>G	rs1424116749	0.00001
NM_000391.4(TPP1):c.1340G>A (p.Arg447His)	rs119455956	0.00001
NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu)	rs121908202	0.00001
NM_000391.4(TPP1):c.1435C>G (p.Pro479Ala)	rs756530648	0.00001
NM_000391.4(TPP1):c.1525C>T (p.Gln509Ter)	rs1184563885	0.00001
NM_000391.4(TPP1):c.229G>C (p.Gly77Arg)	rs121908195	0.00001
NM_000391.4(TPP1):c.617G>A (p.Arg206His)	rs121908209	0.00001
NM_000391.4(TPP1):c.833A>G (p.Gln278Arg)	rs796053439	0.00001
NM_000396.4(CTSK):c.121-1G>A	rs587663163	0.00001
NM_000396.4(CTSK):c.436G>C (p.Gly146Arg)	rs74315302	0.00001
NM_000396.4(CTSK):c.926T>C (p.Leu309Pro)	rs29001685	0.00001
NM_000404.4(GLB1):c.1343A>T (p.Asp448Val)	rs757926581	0.00001
NM_000404.4(GLB1):c.1444C>T (p.Arg482Cys)	rs72555365	0.00001
NM_000404.4(GLB1):c.145C>T (p.Arg49Cys)	rs72555358	0.00001
NM_000404.4(GLB1):c.1527G>T (p.Trp509Cys)	rs72555363	0.00001
NM_000404.4(GLB1):c.1646C>T (p.Pro549Leu)	rs776327443	0.00001
NM_000404.4(GLB1):c.443G>A (p.Arg148His)	rs745864233	0.00001
NM_000404.4(GLB1):c.569G>A (p.Gly190Asp)	rs756575833	0.00001
NM_000404.4(GLB1):c.808T>G (p.Tyr270Asp)	rs376663785	0.00001
NM_000404.4(GLB1):c.902C>T (p.Ala301Val)	rs750531880	0.00001
NM_000414.4(HSD17B4):c.101C>T (p.Ala34Val)	rs587777442	0.00001
NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys)	rs766199971	0.00001
NM_000414.4(HSD17B4):c.1547T>C (p.Ile516Thr)	rs587777443	0.00001
NM_000414.4(HSD17B4):c.1596T>C (p.His532=)	rs758045328	0.00001
NM_000414.4(HSD17B4):c.1704T>A (p.Tyr568Ter)	rs1038744864	0.00001
NM_000414.4(HSD17B4):c.58+1G>T	rs1260517680	0.00001
NM_000414.4(HSD17B4):c.742C>T (p.Arg248Cys)	rs969485098	0.00001
NM_000441.2(SLC26A4):c.1050G>A (p.Leu350=)	rs727504993	0.00001
NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val)	rs786204474	0.00001
NM_000441.2(SLC26A4):c.1225C>T (p.Arg409Cys)	rs147952620	0.00001
NM_000441.2(SLC26A4):c.1238A>G (p.Gln413Arg)	rs142498437	0.00001
NM_000441.2(SLC26A4):c.1336C>T (p.Gln446Ter)	rs397516416	0.00001
NM_000441.2(SLC26A4):c.1586T>G (p.Ile529Ser)	rs786204739	0.00001
NM_000441.2(SLC26A4):c.1963A>G (p.Ile655Val)	rs397516424	0.00001
NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu)	rs200455203	0.00001
NM_000441.2(SLC26A4):c.2005G>A (p.Asp669Asn)	rs777641484	0.00001
NM_000441.2(SLC26A4):c.2007C>A (p.Asp669Glu)	rs749013429	0.00001
NM_000441.2(SLC26A4):c.2048T>C (p.Phe683Ser)	rs1060499808	0.00001
NM_000441.2(SLC26A4):c.2086C>T (p.Gln696Ter)	rs752807925	0.00001
NM_000441.2(SLC26A4):c.2186T>C (p.Leu729Pro)	rs1045933779	0.00001
NM_000441.2(SLC26A4):c.232T>C (p.Tyr78His)	rs760794201	0.00001
NM_000441.2(SLC26A4):c.3G>C (p.Met1Ile)	rs786204426	0.00001
NM_000441.2(SLC26A4):c.415+7A>G	rs765884316	0.00001
NM_000441.2(SLC26A4):c.563T>C (p.Ile188Thr)	rs1205712508	0.00001
NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile)	rs111033348	0.00001
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val)	rs111033242	0.00001
NM_000441.2(SLC26A4):c.84C>A (p.Ser28Arg)	rs539699299	0.00001
NM_000441.2(SLC26A4):c.916dup (p.Val306fs)	rs768245266	0.00001
NM_000441.2(SLC26A4):c.918+2T>C	rs912147281	0.00001
NM_000466.3(PEX1):c.1126del (p.Glu376fs)	rs751829426	0.00001
NM_000466.3(PEX1):c.1239G>A (p.Trp413Ter)	rs267608175	0.00001
NM_000466.3(PEX1):c.1324C>T (p.Pro442Ser)	rs560969584	0.00001
NM_000466.3(PEX1):c.1767A>T (p.Gly589=)	rs1364124177	0.00001
NM_000466.3(PEX1):c.1810G>A (p.Gly604Arg)	rs148427398	0.00001
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro)	rs121434455	0.00001
NM_000466.3(PEX1):c.2230C>T (p.Gln744Ter)	rs398123409	0.00001
NM_000466.3(PEX1):c.2784-7T>C	rs777893142	0.00001
NM_000466.3(PEX1):c.2845C>T (p.Arg949Trp)	rs866184460	0.00001
NM_000466.3(PEX1):c.2926+2T>C	rs267608180	0.00001
NM_000466.3(PEX1):c.3038G>A (p.Arg1013His)	rs1484321655	0.00001
NM_000466.3(PEX1):c.3180dup (p.Gly1061fs)	rs61750430	0.00001
NM_000466.3(PEX1):c.3195G>A (p.Ser1065=)	rs768417678	0.00001
NM_000466.3(PEX1):c.3303_3304dup (p.Cys1102fs)	rs886043558	0.00001
NM_000466.3(PEX1):c.5G>A (p.Trp2Ter)	rs762679408	0.00001
NM_000466.3(PEX1):c.693C>T (p.Asn231=)	rs1463386429	0.00001
NM_000466.3(PEX1):c.721T>C (p.Ser241Pro)	rs753823218	0.00001
NM_000466.3(PEX1):c.803C>G (p.Thr268Ser)	rs780119112	0.00001
NM_000466.3(PEX1):c.831G>A (p.Gln277=)	rs1210178752	0.00001
NM_000478.6(ALPL):c.1022A>G (p.His341Arg)	rs1382219911	0.00001
NM_000478.6(ALPL):c.110T>C (p.Leu37Pro)	rs143358506	0.00001
NM_000478.6(ALPL):c.1166C>A (p.Thr389Asn)	rs746390776	0.00001
NM_000478.6(ALPL):c.1183A>G (p.Ile395Val)	rs772682471	0.00001
NM_000478.6(ALPL):c.1310C>T (p.Ala437Val)	rs1437787933	0.00001
NM_000478.6(ALPL):c.1375G>A (p.Val459Met)	rs1054159992	0.00001
NM_000478.6(ALPL):c.1403C>T (p.Ala468Val)	rs766656419	0.00001
NM_000478.6(ALPL):c.1426G>A (p.Glu476Lys)	rs1057517173	0.00001
NM_000478.6(ALPL):c.299C>T (p.Thr100Met)	rs1201942473	0.00001
NM_000478.6(ALPL):c.350A>G (p.Tyr117Cys)	rs1374504617	0.00001
NM_000478.6(ALPL):c.542C>T (p.Ser181Leu)	rs199590449	0.00001
NM_000478.6(ALPL):c.613G>A (p.Ala205Thr)	rs751455369	0.00001
NM_000478.6(ALPL):c.884T>C (p.Met295Thr)	rs1220125702	0.00001
NM_000478.6(ALPL):c.931G>A (p.Glu311Lys)	rs763457259	0.00001
NM_000478.6(ALPL):c.994G>T (p.Glu332Ter)	rs768976020	0.00001
NM_000478.6(ALPL):c.997+1G>T	rs1292415045	0.00001
NM_000481.4(AMT):c.1098C>T (p.Pro366=)	rs1231229906	0.00001
NM_000481.4(AMT):c.212A>C (p.His71Pro)	rs1053797603	0.00001
NM_000481.4(AMT):c.248A>G (p.His83Arg)	rs1467607949	0.00001
NM_000481.4(AMT):c.46C>T (p.Gln16Ter)	rs2049124862	0.00001
NM_000481.4(AMT):c.471+2T>C	rs386833684	0.00001
NM_000481.4(AMT):c.471+9C>T	rs760770619	0.00001
NM_000481.4(AMT):c.60G>A (p.Pro20=)	rs374750709	0.00001
NM_000481.4(AMT):c.665G>A (p.Arg222His)	rs562695274	0.00001
NM_000481.4(AMT):c.793C>T (p.Arg265Cys)	rs779483959	0.00001
NM_000481.4(AMT):c.889C>T (p.Arg297Ter)	rs766422988	0.00001
NM_000481.4(AMT):c.958C>T (p.Arg320Cys)	rs866625610	0.00001
NM_000487.6(ARSA):c.1107+9G>A	rs768146306	0.00001
NM_000487.6(ARSA):c.1108-3C>G	rs1001100248	0.00001
NM_000487.6(ARSA):c.1115G>A (p.Arg372Gln)	rs74315477	0.00001
NM_000487.6(ARSA):c.1150G>A (p.Glu384Lys)	rs74315479	0.00001
NM_000487.6(ARSA):c.1174C>T (p.Arg392Trp)	rs74315480	0.00001
NM_000487.6(ARSA):c.1232C>T (p.Thr411Ile)	rs74315481	0.00001
NM_000487.6(ARSA):c.1471T>G (p.Cys491Gly)	rs199476388	0.00001
NM_000487.6(ARSA):c.178C>T (p.Arg60Trp)	rs867538940	0.00001
NM_000487.6(ARSA):c.210G>A (p.Leu70=)	rs776251854	0.00001
NM_000487.6(ARSA):c.244C>T (p.Arg82Trp)	rs1313802305	0.00001
NM_000487.6(ARSA):c.245G>A (p.Arg82Gln)	rs769892461	0.00001
NM_000487.6(ARSA):c.279C>T (p.Val93=)	rs756760904	0.00001
NM_000487.6(ARSA):c.370G>A (p.Gly124Ser)	rs74315461	0.00001
NM_000487.6(ARSA):c.433C>T (p.Arg145Ter)	rs199476373	0.00001
NM_000487.6(ARSA):c.449C>T (p.Pro150Leu)	rs199476375	0.00001
NM_000487.6(ARSA):c.474C>A (p.Cys158Ter)	rs768028181	0.00001
NM_000487.6(ARSA):c.558C>T (p.Asn186=)	rs574416131	0.00001
NM_000487.6(ARSA):c.608A>G (p.Tyr203Cys)	rs199476345	0.00001
NM_000487.6(ARSA):c.640G>A (p.Ala214Thr)	rs199476341	0.00001
NM_000487.6(ARSA):c.674A>G (p.Tyr225Cys)	rs527640350	0.00001
NM_000487.6(ARSA):c.737G>A (p.Arg246His)	rs199476366	0.00001
NM_000487.6(ARSA):c.746T>C (p.Phe249Ser)	rs199476384	0.00001
NM_000487.6(ARSA):c.769G>C (p.Asp257His)	rs80338819	0.00001
NM_000487.6(ARSA):c.827C>T (p.Thr276Met)	rs74315472	0.00001
NM_000487.6(ARSA):c.847G>T (p.Asp283Tyr)	rs199476386	0.00001
NM_000487.6(ARSA):c.862A>C (p.Thr288Pro)	rs28940894	0.00001
NM_000487.6(ARSA):c.868C>T (p.Arg290Cys)	rs74315473	0.00001
NM_000487.6(ARSA):c.883G>A (p.Gly295Ser)	rs199476349	0.00001
NM_000487.6(ARSA):c.899T>C (p.Leu300Ser)	rs199476389	0.00001
NM_000487.6(ARSA):c.901C>T (p.Arg301Trp)	rs794727704	0.00001
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser)	rs74315459	0.00001
NM_000489.6(ATRX):c.1252C>T (p.Arg418Ter)	rs1057523785	0.00001
NM_000489.6(ATRX):c.1366G>A (p.Asp456Asn)	rs782313786	0.00001
NM_000489.6(ATRX):c.1412G>T (p.Ser471Ile)	rs1557141731	0.00001
NM_000489.6(ATRX):c.1709A>G (p.Asn570Ser)	rs782517450	0.00001
NM_000489.6(ATRX):c.1960C>G (p.Arg654Gly)	rs1557140492	0.00001
NM_000489.6(ATRX):c.2083G>C (p.Val695Leu)	rs571313578	0.00001
NM_000489.6(ATRX):c.2268A>G (p.Glu756=)	rs1243608503	0.00001
NM_000489.6(ATRX):c.2348G>C (p.Ser783Thr)	rs782530243	0.00001
NM_000489.6(ATRX):c.2472G>C (p.Glu824Asp)	rs1557139572	0.00001
NM_000489.6(ATRX):c.2648A>G (p.Gln883Arg)	rs587778086	0.00001
NM_000489.6(ATRX):c.2656G>C (p.Glu886Gln)	rs782374254	0.00001
NM_000489.6(ATRX):c.2782G>C (p.Glu928Gln)	rs797044792	0.00001
NM_000489.6(ATRX):c.2787G>C (p.Glu929Asp)	rs782283059	0.00001
NM_000489.6(ATRX):c.278A>T (p.Asp93Val)	rs1064796774	0.00001
NM_000489.6(ATRX):c.3306G>A (p.Arg1102=)	rs782279780	0.00001
NM_000489.6(ATRX):c.3314A>G (p.Gln1105Arg)	rs1569538747	0.00001
NM_000489.6(ATRX):c.3538A>G (p.Ile1180Val)	rs782554626	0.00001
NM_000489.6(ATRX):c.3623T>C (p.Ile1208Thr)	rs374291079	0.00001
NM_000489.6(ATRX):c.3850C>T (p.Leu1284Phe)	rs782619383	0.00001
NM_000489.6(ATRX):c.4072A>G (p.Thr1358Ala)	rs781912326	0.00001
NM_000489.6(ATRX):c.4096G>A (p.Val1366Ile)	rs1280555560	0.00001
NM_000489.6(ATRX):c.4201C>T (p.Arg1401Trp)	rs1557119999	0.00001
NM_000489.6(ATRX):c.4276C>A (p.Arg1426=)	rs919106518	0.00001
NM_000489.6(ATRX):c.4862C>T (p.Thr1621Met)	rs122445106	0.00001
NM_000489.6(ATRX):c.5557C>T (p.His1853Tyr)	rs895159127	0.00001
NM_000489.6(ATRX):c.5559C>T (p.His1853=)	rs1557096973	0.00001
NM_000489.6(ATRX):c.5591G>T (p.Gly1864Val)	rs151220806	0.00001
NM_000489.6(ATRX):c.5935G>C (p.Val1979Leu)	rs782773652	0.00001
NM_000489.6(ATRX):c.6132C>T (p.Leu2044=)	rs1557079262	0.00001
NM_000489.6(ATRX):c.672G>A (p.Ala224=)	rs782223625	0.00001
NM_000489.6(ATRX):c.7379A>G (p.Tyr2460Cys)	rs782169215	0.00001
NM_000489.6(ATRX):c.847G>A (p.Val283Ile)	rs1057522580	0.00001
NM_000489.6(ATRX):c.999T>C (p.Asp333=)	rs2071429803	0.00001
NM_000492.4(CFTR):c.1209+7A>T	rs767301152	0.00001
NM_000492.4(CFTR):c.1587C>T (p.Asp529=)	rs772895745	0.00001
NM_000492.4(CFTR):c.164+12T>C	rs121908790	0.00001
NM_000492.4(CFTR):c.1745C>T (p.Thr582Ile)	rs397508293	0.00001
NM_000492.4(CFTR):c.1837G>A (p.Ala613Thr)	rs201978662	0.00001
NM_000492.4(CFTR):c.1841A>G (p.Asp614Gly)	rs201124247	0.00001
NM_000492.4(CFTR):c.234dup (p.Trp79fs)	rs1189377616	0.00001
NM_000492.4(CFTR):c.2505T>C (p.Asp835=)	rs761043298	0.00001
NM_000492.4(CFTR):c.2723C>A (p.Thr908Asn)	rs369521395	0.00001
NM_000492.4(CFTR):c.2797A>G (p.Arg933Gly)	rs397508436	0.00001
NM_000492.4(CFTR):c.2930C>T (p.Ser977Phe)	rs141033578	0.00001
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile)	rs397508600	0.00001
NM_000492.4(CFTR):c.3759G>A (p.Leu1253=)	rs117400534	0.00001
NM_000492.4(CFTR):c.3873G>C (p.Gln1291His)	rs121909015	0.00001
NM_000492.4(CFTR):c.4097T>C (p.Ile1366Thr)	rs200955612	0.00001
NM_000492.4(CFTR):c.4193T>G (p.Ile1398Ser)	rs397508692	0.00001
NM_000492.4(CFTR):c.4276T>C (p.Ser1426Pro)	rs397508708	0.00001
NM_000492.4(CFTR):c.4367G>A (p.Ser1456Asn)	rs983279303	0.00001
NM_000492.4(CFTR):c.581G>T (p.Gly194Val)	rs397508763	0.00001
NM_000492.4(CFTR):c.859A>T (p.Asn287Tyr)	rs397508804	0.00001
NM_000492.4(CFTR):c.870-2A>G	rs1290078234	0.00001
NM_000492.4(CFTR):c.94C>A (p.Leu32Met)	rs776797377	0.00001
NM_000498.3(CYP11B2):c.135A>G (p.Pro45=)	rs765056481	0.00001
NM_000498.3(CYP11B2):c.159G>A (p.Leu53=)	rs768928152	0.00001
NM_000498.3(CYP11B2):c.288T>C (p.Asp96=)	rs751360145	0.00001
NM_000498.3(CYP11B2):c.304C>T (p.Gln102Ter)	rs762727830	0.00001
NM_000498.3(CYP11B2):c.30C>T (p.Cys10=)	rs752745892	0.00001
NM_000498.3(CYP11B2):c.421C>T (p.Arg141Ter)	rs765802331	0.00001
NM_000498.3(CYP11B2):c.532C>T (p.Gln178Ter)	rs1205192306	0.00001
NM_000498.3(CYP11B2):c.541C>T (p.Arg181Trp)	rs28931609	0.00001
NM_000498.3(CYP11B2):c.675T>C (p.His225=)	rs377428697	0.00001
NM_000498.3(CYP11B2):c.760A>T (p.Lys254Ter)	rs759666789	0.00001
NM_000498.3(CYP11B2):c.922T>C (p.Ser308Pro)	rs1351295710	0.00001
NM_000517.6(HBA2):c.349G>T (p.Glu117Ter)	rs33987053	0.00001
NM_000517.6(HBA2):c.414C>T (p.Thr138=)	rs371394396	0.00001
NM_000518.4(HBB):c.157G>A (p.Asp53Asn)	rs33961886	0.00001
NM_000518.5(HBB):c.-78A>G	rs33931746	0.00001
NM_000518.5(HBB):c.114G>A (p.Trp38Ter)	rs33974936	0.00001
NM_000520.6(HEXA):c.1088dup (p.Ser364fs)	rs1734738637	0.00001
NM_000520.6(HEXA):c.109T>A (p.Tyr37Asn)	rs759157781	0.00001
NM_000520.6(HEXA):c.1168del (p.Gln390fs)	rs772879726	0.00001
NM_000520.6(HEXA):c.1177C>T (p.Arg393Ter)	rs121907963	0.00001
NM_000520.6(HEXA):c.1393G>A (p.Asp465Asn)	rs750727201	0.00001
NM_000520.6(HEXA):c.139C>T (p.Gln47Ter)	rs745996955	0.00001
NM_000520.6(HEXA):c.1422G>C (p.Trp474Cys)	rs121907981	0.00001
NM_000520.6(HEXA):c.1444G>A (p.Glu482Lys)	rs121907952	0.00001
NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys)	rs121907966	0.00001
NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys)	rs28942071	0.00001
NM_000520.6(HEXA):c.187G>T (p.Glu63Ter)	rs759092928	0.00001
NM_000520.6(HEXA):c.233G>A (p.Trp78Ter)	rs769035623	0.00001
NM_000520.6(HEXA):c.2T>C (p.Met1Thr)	rs786204721	0.00001
NM_000520.6(HEXA):c.32T>C (p.Leu11Pro)	rs141120074	0.00001
NM_000520.6(HEXA):c.346+1G>C	rs797044432	0.00001
NM_000520.6(HEXA):c.460-2A>G	rs547177633	0.00001
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp)	rs121907972	0.00001
NM_000520.6(HEXA):c.509G>A (p.Arg170Gln)	rs121907957	0.00001
NM_000520.6(HEXA):c.535C>T (p.His179Tyr)	rs781493030	0.00001
NM_000520.6(HEXA):c.536A>G (p.His179Arg)	rs747372270	0.00001
NM_000520.6(HEXA):c.570G>T (p.Leu190=)	rs1188885214	0.00001
NM_000520.6(HEXA):c.607T>G (p.Trp203Gly)	rs1002712424	0.00001
NM_000520.6(HEXA):c.755G>A (p.Arg252His)	rs762255098	0.00001
NM_000520.6(HEXA):c.772G>C (p.Asp258His)	rs121907971	0.00001
NM_000520.6(HEXA):c.902T>G (p.Met301Arg)	rs121907977	0.00001
NM_000520.6(HEXA):c.909A>G (p.Thr303=)	rs2088661576	0.00001
NM_000520.6(HEXA):c.972T>A (p.Val324=)	rs28942072	0.00001
NM_000521.4(HEXB):c.1242G>A (p.Lys414=)	rs1309123671	0.00001
NM_000521.4(HEXB):c.1408_1409insCA (p.Asp470fs)	rs1208761835	0.00001
NM_000521.4(HEXB):c.1417G>A (p.Gly473Ser)	rs762892362	0.00001
NM_000521.4(HEXB):c.1509-26G>A	rs201580118	0.00001
NM_000521.4(HEXB):c.1514G>A (p.Arg505Gln)	rs121907983	0.00001
NM_000521.4(HEXB):c.1538T>C (p.Leu513Pro)	rs778501777	0.00001
NM_000521.4(HEXB):c.1598G>A (p.Arg533His)	rs1291555996	0.00001
NM_000521.4(HEXB):c.1614-16_1622dup	rs756912360	0.00001
NM_000521.4(HEXB):c.1615C>T (p.Arg539Cys)	rs749646826	0.00001
NM_000521.4(HEXB):c.42G>A (p.Leu14=)	rs1580377030	0.00001
NM_000521.4(HEXB):c.448A>C (p.Thr150Pro)	rs938611392	0.00001
NM_000521.4(HEXB):c.512-3C>A	rs1376742145	0.00001
NM_000521.4(HEXB):c.841C>T (p.Arg281Ter)	rs138914144	0.00001
NM_000527.4(LDLR):c.313+1G>A	rs112029328	0.00001
NM_000527.5(LDLR):c.-152C>T	rs879254367	0.00001
NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr)	rs193922566	0.00001
NM_000527.5(LDLR):c.1061-1G>C	rs879254774	0.00001
NM_000527.5(LDLR):c.1102T>C (p.Cys368Arg)	rs879254791	0.00001
NM_000527.5(LDLR):c.1118G>A (p.Gly373Asp)	rs879254797	0.00001
NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro)	rs730882098	0.00001
NM_000527.5(LDLR):c.1135T>C (p.Cys379Arg)	rs879254803	0.00001
NM_000527.5(LDLR):c.1195G>A (p.Ala399Thr)	rs730882099	0.00001
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)	rs121908043	0.00001
NM_000527.5(LDLR):c.1217G>A (p.Arg406Gln)	rs552422789	0.00001
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met)	rs368562025	0.00001
NM_000527.5(LDLR):c.1241T>G (p.Leu414Arg)	rs748554592	0.00001
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)	rs28942078	0.00001
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)	rs28942079	0.00001
NM_000527.5(LDLR):c.1307T>C (p.Val436Ala)	rs779732323	0.00001
NM_000527.5(LDLR):c.1329G>C (p.Trp443Cys)	rs879254867	0.00001
NM_000527.5(LDLR):c.1359-1G>A	rs139617694	0.00001
NM_000527.5(LDLR):c.1367T>C (p.Leu456Pro)	rs200143634	0.00001
NM_000527.5(LDLR):c.1381G>T (p.Gly461Cys)	rs193922568	0.00001
NM_000527.5(LDLR):c.1393T>A (p.Tyr465Asn)	rs730882101	0.00001
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr)	rs730882102	0.00001
NM_000527.5(LDLR):c.1429G>A (p.Asp477Asn)	rs780316072	0.00001
NM_000527.5(LDLR):c.1463T>C (p.Ile488Thr)	rs879254913	0.00001
NM_000527.5(LDLR):c.1502C>T (p.Ala501Val)	rs755667663	0.00001
NM_000527.5(LDLR):c.1529C>T (p.Thr510Met)	rs755154048	0.00001
NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser)	rs758194385	0.00001
NM_000527.5(LDLR):c.1764C>T (p.Ile588=)	rs778595540	0.00001
NM_000527.5(LDLR):c.1846-1G>A	rs879255051	0.00001
NM_000527.5(LDLR):c.1898G>A (p.Arg633His)	rs754536745	0.00001
NM_000527.5(LDLR):c.190+4A>T	rs769446356	0.00001
NM_000527.5(LDLR):c.1966C>A (p.His656Asn)	rs762815611	0.00001
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)	rs121908031	0.00001
NM_000527.5(LDLR):c.2097G>A (p.Pro699=)	rs370835628	0.00001
NM_000527.5(LDLR):c.2113G>C (p.Ala705Pro)	rs193922570	0.00001
NM_000527.5(LDLR):c.2205C>T (p.Ala735=)	rs763213863	0.00001
NM_000527.5(LDLR):c.2206G>A (p.Val736Ile)	rs547268730	0.00001
NM_000527.5(LDLR):c.2225C>T (p.Thr742Ile)	rs767546791	0.00001
NM_000527.5(LDLR):c.223T>A (p.Cys75Ser)	rs879254439	0.00001
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)	rs730882078	0.00001
NM_000527.5(LDLR):c.2529C>T (p.Asp843=)	rs374635484	0.00001
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly)	rs121908025	0.00001
NM_000527.5(LDLR):c.314-2A>C	rs879254470	0.00001
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys)	rs769383881	0.00001
NM_000527.5(LDLR):c.352G>T (p.Asp118Tyr)	rs730882080	0.00001
NM_000527.5(LDLR):c.370C>T (p.Arg124Trp)	rs879254498	0.00001
NM_000527.5(LDLR):c.388T>A (p.Ser130Thr)	rs879254508	0.00001
NM_000527.5(LDLR):c.398A>C (p.Asp133Ala)	rs1317204420	0.00001
NM_000527.5(LDLR):c.418G>A (p.Glu140Lys)	rs748944640	0.00001
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn)	rs200727689	0.00001
NM_000527.5(LDLR):c.543G>A (p.Pro181=)	rs766577671	0.00001
NM_000527.5(LDLR):c.565G>C (p.Val189Leu)	rs370820135	0.00001
NM_000527.5(LDLR):c.631C>T (p.His211Tyr)	rs771917370	0.00001
NM_000527.5(LDLR):c.632A>T (p.His211Leu)	rs879254603	0.00001
NM_000527.5(LDLR):c.661G>A (p.Asp221Asn)	rs875989906	0.00001
NM_000527.5(LDLR):c.664T>C (p.Cys222Arg)	rs577934998	0.00001
NM_000527.5(LDLR):c.709C>T (p.Arg237Cys)	rs879254657	0.00001
NM_000527.5(LDLR):c.761A>C (p.Gln254Pro)	rs879254667	0.00001
NM_000527.5(LDLR):c.788A>G (p.Asp263Gly)	rs141681167	0.00001
NM_000527.5(LDLR):c.796G>A (p.Asp266Asn)	rs875989907	0.00001
NM_000527.5(LDLR):c.846C>A (p.Phe282Leu)	rs730882090	0.00001
NM_000527.5(LDLR):c.91G>A (p.Glu31Lys)	rs776421777	0.00001
NM_000527.5(LDLR):c.938G>A (p.Cys313Tyr)	rs875989911	0.00001
NM_000527.5(LDLR):c.981C>T (p.His327=)	rs1060499933	0.00001
NM_000528.4(MAN2B1):c.1026+2T>G	rs369099686	0.00001
NM_000528.4(MAN2B1):c.1109+10G>A	rs779635675	0.00001
NM_000528.4(MAN2B1):c.1117A>T (p.Lys373Ter)	rs778554304	0.00001
NM_000528.4(MAN2B1):c.1351G>T (p.Gly451Cys)	rs368899357	0.00001
NM_000528.4(MAN2B1):c.1645-1G>A	rs938576591	0.00001
NM_000528.4(MAN2B1):c.1687G>T (p.Glu563Ter)	rs1057516927	0.00001
NM_000528.4(MAN2B1):c.1_2del (p.Met1fs)	rs1290585382	0.00001
NM_000528.4(MAN2B1):c.2398G>T (p.Gly800Trp)	rs398123456	0.00001
NM_000528.4(MAN2B1):c.2436+2T>C	rs398123457	0.00001
NM_000528.4(MAN2B1):c.2622T>C (p.Gly874=)	rs545541738	0.00001
NM_000528.4(MAN2B1):c.274A>G (p.Ile92Val)	rs751849414	0.00001
NM_000528.4(MAN2B1):c.2856G>A (p.Gln952=)	rs1318861970	0.00001
NM_000528.4(MAN2B1):c.2920dup (p.Thr974fs)	rs774791244	0.00001
NM_000528.4(MAN2B1):c.2999T>C (p.Phe1000Ser)	rs864621991	0.00001
NM_000528.4(MAN2B1):c.309G>A (p.Ser103=)	rs1175779934	0.00001
NM_000528.4(MAN2B1):c.437-1G>A	rs200048536	0.00001
NM_000528.4(MAN2B1):c.437-4dup	rs2512515073	0.00001
NM_000528.4(MAN2B1):c.681G>A (p.Trp227Ter)	rs2512512433	0.00001
NM_000528.4(MAN2B1):c.685C>T (p.Arg229Trp)	rs763257568	0.00001
NM_000528.4(MAN2B1):c.855C>T (p.Pro285=)	rs139218045	0.00001
NM_000531.6(OTC):c.1061T>G (p.Phe354Cys)	rs72558495	0.00001
NM_000531.6(OTC):c.147C>T (p.Thr49=)	rs144153859	0.00001
NM_000532.5(PCCB):c.1126C>T (p.Arg376Cys)	rs200306164	0.00001
NM_000532.5(PCCB):c.1301C>T (p.Ala434Val)	rs751538672	0.00001
NM_000532.5(PCCB):c.1309G>A (p.Gly437Ser)	rs1349202366	0.00001
NM_000532.5(PCCB):c.1316A>G (p.Tyr439Cys)	rs769521436	0.00001
NM_000532.5(PCCB):c.1399-2_1399-1del	rs1317123493	0.00001
NM_000532.5(PCCB):c.1535G>A (p.Arg512His)	rs764697873	0.00001
NM_000532.5(PCCB):c.331C>T (p.Arg111Ter)	rs753981900	0.00001
NM_000532.5(PCCB):c.332G>A (p.Arg111Gln)	rs757534748	0.00001
NM_000532.5(PCCB):c.484G>T (p.Gly162Trp)	rs754752068	0.00001
NM_000532.5(PCCB):c.493C>T (p.Arg165Trp)	rs879253815	0.00001
NM_000532.5(PCCB):c.502G>A (p.Glu168Lys)	rs121964960	0.00001
NM_000532.5(PCCB):c.733G>A (p.Gly245Ser)	rs756414710	0.00001
NM_000532.5(PCCB):c.912A>G (p.Thr304=)	rs778118663	0.00001
NM_000532.5(PCCB):c.942C>A (p.Tyr314Ter)	rs572246667	0.00001
NM_000536.4(RAG2):c.1396C>T (p.Leu466Phe)	rs1590713653	0.00001
NM_000536.4(RAG2):c.1421A>G (p.Asn474Ser)	rs757913323	0.00001
NM_000536.4(RAG2):c.1433G>A (p.Cys478Tyr)	rs121918573	0.00001
NM_000536.4(RAG2):c.685C>T (p.Arg229Trp)	rs765298019	0.00001
NM_000543.5(SMPD1):c.1148A>G (p.Asn383Ser)	rs776442314	0.00001
NM_000543.5(SMPD1):c.1341-1G>A	rs1057516854	0.00001
NM_000543.5(SMPD1):c.1343A>G (p.Tyr448Cys)	rs747143343	0.00001
NM_000543.5(SMPD1):c.1675_1676del (p.Val559fs)	rs759389193	0.00001
NM_000543.5(SMPD1):c.1801G>A (p.Ala601Thr)	rs750433951	0.00001
NM_000543.5(SMPD1):c.1805G>A (p.Arg602His)	rs370129081	0.00001
NM_000543.5(SMPD1):c.502G>A (p.Gly168Arg)	rs1847910654	0.00001
NM_000543.5(SMPD1):c.688C>T (p.Arg230Cys)	rs989639224	0.00001
NM_000543.5(SMPD1):c.742G>A (p.Glu248Lys)	rs200763423	0.00001
NM_000543.5(SMPD1):c.748A>C (p.Ser250Arg)	rs750779804	0.00001
NM_000543.5(SMPD1):c.757G>C (p.Asp253His)	rs398123479	0.00001
NM_000543.5(SMPD1):c.83C>T (p.Pro28Leu)	rs556155962	0.00001
NM_000642.3(AGL):c.1002_1005dup (p.Ile336fs)	rs1487094304	0.00001
NM_000642.3(AGL):c.100C>T (p.Arg34Ter)	rs781580050	0.00001
NM_000642.3(AGL):c.1027C>T (p.Arg343Trp)	rs1131691438	0.00001
NM_000642.3(AGL):c.1078C>T (p.His360Tyr)	rs763554006	0.00001
NM_000642.3(AGL):c.1156C>T (p.His386Tyr)	rs781761176	0.00001
NM_000642.3(AGL):c.1650A>G (p.Leu550=)	rs778806512	0.00001
NM_000642.3(AGL):c.1735+1G>T	rs199922945	0.00001
NM_000642.3(AGL):c.2002-5T>A	rs201718705	0.00001
NM_000642.3(AGL):c.2100A>G (p.Ala700=)	rs1176932146	0.00001
NM_000642.3(AGL):c.2193A>G (p.Ala731=)	rs1652031034	0.00001
NM_000642.3(AGL):c.22C>T (p.Arg8Ter)	rs1057516870	0.00001
NM_000642.3(AGL):c.22del (p.Arg8fs)	rs1215043175	0.00001
NM_000642.3(AGL):c.2309-1G>A	rs786204481	0.00001
NM_000642.3(AGL):c.2929C>T (p.Arg977Ter)	rs531425980	0.00001
NM_000642.3(AGL):c.3014del (p.Cys1005fs)	rs754653701	0.00001
NM_000642.3(AGL):c.3642C>T (p.Gly1214=)	rs1261746082	0.00001
NM_000642.3(AGL):c.3682C>T (p.Arg1228Ter)	rs113994131	0.00001
NM_000642.3(AGL):c.3771C>T (p.Gly1257=)	rs760738241	0.00001
NM_000642.3(AGL):c.3894G>A (p.Leu1298=)	rs769025250	0.00001
NM_000642.3(AGL):c.4341A>G (p.Gln1447=)	rs376486225	0.00001
NM_000642.3(AGL):c.664+3A>G	rs370792293	0.00001
NM_000642.3(AGL):c.684C>T (p.Ile228=)	rs961563586	0.00001
NM_000642.3(AGL):c.887T>G (p.Leu296Arg)	rs748142986	0.00001
NM_000642.3(AGL):c.94C>T (p.Gln32Ter)	rs786204489	0.00001
NM_000709.4(BCKDHA):c.1036C>T (p.Arg346Cys)	rs182923857	0.00001
NM_000709.4(BCKDHA):c.1037G>A (p.Arg346His)	rs398123486	0.00001
NM_000709.4(BCKDHA):c.1094G>A (p.Arg365Gln)	rs375957868	0.00001
NM_000709.4(BCKDHA):c.1119G>A (p.Trp373Ter)	rs765543886	0.00001
NM_000709.4(BCKDHA):c.1168-5C>T	rs1196167996	0.00001
NM_000709.4(BCKDHA):c.1234G>A (p.Val412Met)	rs398123490	0.00001
NM_000709.4(BCKDHA):c.14del (p.Ile5fs)	rs398123494	0.00001
NM_000709.4(BCKDHA):c.435C>T (p.Ala145=)	rs369278165	0.00001
NM_000709.4(BCKDHA):c.475C>T (p.Arg159Trp)	rs769688327	0.00001
NM_000709.4(BCKDHA):c.632C>T (p.Thr211Met)	rs398123503	0.00001
NM_000709.4(BCKDHA):c.647-1G>C	rs753216964	0.00001
NM_000709.4(BCKDHA):c.647C>T (p.Ala216Val)	rs369448982	0.00001
NM_000709.4(BCKDHA):c.745G>A (p.Gly249Ser)	rs137852874	0.00001
NM_000709.4(BCKDHA):c.757G>A (p.Ala253Thr)	rs199599175	0.00001
NM_000709.4(BCKDHA):c.761C>A (p.Ala254Asp)	rs373713279	0.00001
NM_000709.4(BCKDHA):c.793C>T (p.Arg265Trp)	rs137852873	0.00001
NM_000709.4(BCKDHA):c.835del (p.Tyr279fs)	rs755451300	0.00001
NM_000709.4(BCKDHA):c.868G>A (p.Gly290Arg)	rs137852871	0.00001
NM_000709.4(BCKDHA):c.929C>G (p.Thr310Arg)	rs137852875	0.00001
NM_000709.4(BCKDHA):c.979G>A (p.Glu327Lys)	rs398123515	0.00001
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln)	rs121908099	0.00001
NM_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala)	rs200883871	0.00001
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp)	rs121908098	0.00001
NM_000784.4(CYP27A1):c.1515G>A (p.Thr505=)	rs886656814	0.00001
NM_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys)	rs560108684	0.00001
NM_000784.4(CYP27A1):c.1A>G (p.Met1Val)	rs1446633660	0.00001
NM_000784.4(CYP27A1):c.256-1G>T	rs886556800	0.00001
NM_000784.4(CYP27A1):c.32G>A (p.Trp11Ter)	rs1398584213	0.00001
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp)	rs72551312	0.00001
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=)	rs587778796	0.00001
NM_000784.4(CYP27A1):c.527A>G (p.Asp176Gly)	rs748325824	0.00001
NM_000784.4(CYP27A1):c.745C>T (p.Gln249Ter)	rs72551316	0.00001
NM_000784.4(CYP27A1):c.776A>G (p.Lys259Arg)	rs72551317	0.00001
NM_001003722.2(GLE1):c.1977dup (p.Thr660fs)	rs774933514	0.00001
NM_001003722.2(GLE1):c.397C>T (p.Arg133Ter)	rs374673335	0.00001
NM_001003722.2(GLE1):c.844C>T (p.Arg282Ter)	rs755775223	0.00001
NM_001003722.2(GLE1):c.937C>T (p.Arg313Ter)	rs1308076031	0.00001
NM_001017420.3(ESCO2):c.383G>A (p.Gly128Glu)	rs557813179	0.00001
NM_001033855.3(DCLRE1C):c.1527C>T (p.Ser509=)	rs777600117	0.00001
NM_001033855.3(DCLRE1C):c.1587A>C (p.Ser529=)	rs529177486	0.00001
NM_001033855.3(DCLRE1C):c.357A>G (p.Ser119=)	rs757569484	0.00001
NM_001033855.3(DCLRE1C):c.47T>C (p.Ile16Thr)	rs1317003987	0.00001
NM_001033855.3(DCLRE1C):c.572G>A (p.Arg191Gln)	rs528699445	0.00001
NM_001042432.2(CLN3):c.461-1G>T	rs386833722	0.00001
NM_001079802.2(FKTN):c.1129_1130del (p.Met377fs)	rs1554761402	0.00001
NM_001079802.2(FKTN):c.1153A>T (p.Lys385Ter)	rs1588222602	0.00001
NM_001079802.2(FKTN):c.1181T>C (p.Phe394Ser)	rs727502849	0.00001
NM_001079802.2(FKTN):c.443A>G (p.Asp148Gly)	rs773305645	0.00001
NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter)	rs746763506	0.00001
NM_001079802.2(FKTN):c.912A>G (p.Gly304=)	rs778424333	0.00001
NM_001079866.2(BCS1L):c.258T>C (p.His86=)	rs886055627	0.00001
NM_001079866.2(BCS1L):c.556C>T (p.Arg186Ter)	rs779331797	0.00001
NM_001079866.2(BCS1L):c.768C>G (p.Leu256=)	rs781666793	0.00001
NM_001122769.3(LCA5):c.103C>T (p.Arg35Ter)	rs748370008	0.00001
NM_001126108.2(SLC12A3):c.1000C>T (p.Arg334Trp)	rs770702194	0.00001
NM_001126108.2(SLC12A3):c.1001G>A (p.Arg334Gln)	rs776296772	0.00001
NM_001126108.2(SLC12A3):c.1046C>T (p.Pro349Leu)	rs121909383	0.00001
NM_001126108.2(SLC12A3):c.1049C>T (p.Ser350Leu)	rs778585043	0.00001
NM_001126108.2(SLC12A3):c.1175C>T (p.Thr392Ile)	rs748575829	0.00001
NM_001126108.2(SLC12A3):c.1262G>A (p.Cys421Tyr)	rs781342495	0.00001
NM_001126108.2(SLC12A3):c.1424C>G (p.Ser475Cys)	rs373017321	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.1963C>T (p.Arg655Cys)	rs747249619	0.00001
NM_001126108.2(SLC12A3):c.2089_2095del (p.Thr697fs)	rs771701344	0.00001
NM_001126108.2(SLC12A3):c.2515G>A (p.Asp839Asn)	rs1298687889	0.00001
NM_001126108.2(SLC12A3):c.2546T>A (p.Leu849His)	rs185927948	0.00001
NM_001126108.2(SLC12A3):c.2555G>A (p.Arg852His)	rs751929135	0.00001
NM_001126108.2(SLC12A3):c.2660G>A (p.Arg887Gln)	rs369360334	0.00001
NM_001126108.2(SLC12A3):c.2851_2852insAGGGGTGCACCCTC (p.Val951fs)	rs754576009	0.00001
NM_001126108.2(SLC12A3):c.403C>T (p.Arg135Cys)	rs749742102	0.00001
NM_001126108.2(SLC12A3):c.472C>T (p.Arg158Trp)	rs1041531529	0.00001
NM_001126108.2(SLC12A3):c.514T>C (p.Trp172Arg)	rs757792232	0.00001
NM_001126108.2(SLC12A3):c.533C>T (p.Ser178Leu)	rs772589653	0.00001
NM_001126108.2(SLC12A3):c.741+1G>A	rs1187506921	0.00001
NM_001127671.2(LIFR):c.1252C>T (p.Arg418Ter)	rs765622323	0.00001
NM_001127671.2(LIFR):c.2170C>G (p.Pro724Ala)	rs863225047	0.00001
NM_001127671.2(LIFR):c.3060G>A (p.Glu1020=)	rs537706381	0.00001
NM_001127671.2(LIFR):c.819T>C (p.Ser273=)	rs756161883	0.00001
NM_001130987.2(DYSF):c.1061T>C (p.Leu354Pro)	rs768546511	0.00001
NM_001130987.2(DYSF):c.1276+5G>A	rs766433603	0.00001
NM_001130987.2(DYSF):c.1693-6T>A	rs886039573	0.00001
NM_001130987.2(DYSF):c.1717C>T (p.Arg573Trp)	rs377735262	0.00001
NM_001130987.2(DYSF):c.1721T>C (p.Leu574Pro)	rs200916654	0.00001
NM_001130987.2(DYSF):c.1905C>T (p.Ile635=)	rs567956595	0.00001
NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg)	rs201049092	0.00001
NM_001130987.2(DYSF):c.2217-2A>G	rs747289205	0.00001
NM_001130987.2(DYSF):c.2409+1G>A	rs151317754	0.00001
NM_001130987.2(DYSF):c.2864+5G>A	rs886044131	0.00001
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln)	rs150877497	0.00001
NM_001130987.2(DYSF):c.356del (p.Val119fs)	rs398123782	0.00001
NM_001130987.2(DYSF):c.4282C>T (p.Gln1428Ter)	rs769721856	0.00001
NM_001130987.2(DYSF):c.460+1G>A	rs1278864604	0.00001
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp)	rs746243052	0.00001
NM_001130987.2(DYSF):c.5557C>T (p.Arg1853Cys)	rs1280185461	0.00001
NM_001130987.2(DYSF):c.5785-7G>A	rs753861836	0.00001
NM_001130987.2(DYSF):c.5885-1G>C	rs771257070	0.00001
NM_001130987.2(DYSF):c.6313G>A (p.Ala2105Thr)	rs746663568	0.00001
NM_001130987.2(DYSF):c.851C>T (p.Thr284Met)	rs398123802	0.00001
NM_001130987.2(DYSF):c.991G>A (p.Gly331Arg)	rs121908963	0.00001
NM_001142800.2(EYS):c.1185-6T>G	rs565046666	0.00001
NM_001142800.2(EYS):c.1308C>A (p.Cys436Ter)	rs1471994744	0.00001
NM_001142800.2(EYS):c.1314A>G (p.Pro438=)	rs375043207	0.00001
NM_001142800.2(EYS):c.174G>A (p.Trp58Ter)	rs1177052380	0.00001
NM_001142800.2(EYS):c.3420G>A (p.Gly1140=)	rs1325335839	0.00001
NM_001142800.2(EYS):c.4045C>T (p.Arg1349Ter)	rs930421180	0.00001
NM_001142800.2(EYS):c.4103dup (p.Ser1369fs)	rs1205803331	0.00001
NM_001142800.2(EYS):c.4651G>T (p.Glu1551Ter)	rs1305702728	0.00001
NM_001142800.2(EYS):c.5262G>A (p.Pro1754=)	rs779784002	0.00001
NM_001142800.2(EYS):c.5329T>C (p.Leu1777=)	rs1042931370	0.00001
NM_001142800.2(EYS):c.5644+5G>A	rs794727412	0.00001
NM_001142800.2(EYS):c.5959A>C (p.Thr1987Pro)	rs1278246029	0.00001
NM_001142800.2(EYS):c.6079-3_6079-2del	rs1491200209	0.00001
NM_001142800.2(EYS):c.6192-1G>T	rs570020451	0.00001
NM_001142800.2(EYS):c.6528C>A (p.Tyr2176Ter)	rs797045089	0.00001
NM_001142800.2(EYS):c.6563T>C (p.Ile2188Thr)	rs1562190751	0.00001
NM_001142800.2(EYS):c.6976C>T (p.Arg2326Ter)	rs1060499783	0.00001
NM_001142800.2(EYS):c.7122T>C (p.Ser2374=)	rs890076073	0.00001
NM_001142800.2(EYS):c.7170C>T (p.Ser2390=)	rs201364943	0.00001
NM_001142800.2(EYS):c.7578+1G>A	rs1228475082	0.00001
NM_001142800.2(EYS):c.7803T>C (p.Asn2601=)	rs1342639553	0.00001
NM_001142800.2(EYS):c.8143C>T (p.Arg2715Ter)	rs1299355731	0.00001
NM_001142800.2(EYS):c.8337C>T (p.Asn2779=)	rs745351348	0.00001
NM_001142800.2(EYS):c.8634C>T (p.Ala2878=)	rs763174826	0.00001
NM_001142800.2(EYS):c.8779T>C (p.Cys2927Arg)	rs373203896	0.00001
NM_001142800.2(EYS):c.8984T>A (p.Ile2995Asn)	rs1211856182	0.00001
NM_001142800.2(EYS):c.9059T>C (p.Ile3020Thr)	rs948998853	0.00001
NM_001142800.2(EYS):c.9061G>C (p.Ala3021Pro)	rs569561277	0.00001
NM_001164277.2(SLC37A4):c.186C>T (p.Ile62=)	rs1452761654	0.00001
NM_001164277.2(SLC37A4):c.21C>G (p.Gly7=)	rs370153031	0.00001
NM_001164277.2(SLC37A4):c.264C>T (p.Gly88=)	rs782292086	0.00001
NM_001164277.2(SLC37A4):c.287G>A (p.Trp96Ter)	rs121908976	0.00001
NM_001164277.2(SLC37A4):c.381+2T>G	rs782645078	0.00001
NM_001164277.2(SLC37A4):c.448G>A (p.Gly150Arg)	rs193302883	0.00001
NM_001164277.2(SLC37A4):c.572C>T (p.Pro191Leu)	rs193302888	0.00001
NM_001164277.2(SLC37A4):c.781G>A (p.Val261Ile)	rs561701030	0.00001
NM_001164277.2(SLC37A4):c.786-7A>G	rs781887799	0.00001
NM_001164277.2(SLC37A4):c.833T>A (p.Ile278Asn)	rs193302900	0.00001
NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His)	rs121908978	0.00001
NM_001164277.2(SLC37A4):c.871+5G>A	rs1250046397	0.00001
NM_001164277.2(SLC37A4):c.898C>T (p.Arg300Cys)	rs193302880	0.00001
NM_001164507.2(NEB):c.21327T>G (p.Ala7109=)	rs777930884	0.00001
NM_001164507.2(NEB):c.21402C>T (p.Gly7134=)	rs774372075	0.00001
NM_001164508.2(NEB):c.10462C>T (p.Arg3488Cys)	rs765175171	0.00001
NM_001164508.2(NEB):c.10922C>T (p.Pro3641Leu)	rs377027708	0.00001
NM_001164508.2(NEB):c.10940T>C (p.Val3647Ala)	rs1316575607	0.00001
NM_001164508.2(NEB):c.11164C>T (p.Arg3722Ter)	rs928945364	0.00001
NM_001164508.2(NEB):c.1152+1G>A	rs398124167	0.00001
NM_001164508.2(NEB):c.11843C>T (p.Ser3948Phe)	rs757175445	0.00001
NM_001164508.2(NEB):c.11954A>G (p.Tyr3985Cys)	rs745504838	0.00001
NM_001164508.2(NEB):c.11974A>G (p.Ile3992Val)	rs1465332264	0.00001
NM_001164508.2(NEB):c.11982C>G (p.Ile3994Met)	rs780157705	0.00001
NM_001164508.2(NEB):c.12234T>A (p.Thr4078=)	rs752937326	0.00001
NM_001164508.2(NEB):c.125A>G (p.Tyr42Cys)	rs756162358	0.00001
NM_001164508.2(NEB):c.12640-10C>T	rs1264692800	0.00001
NM_001164508.2(NEB):c.13130_13131del (p.Met4377fs)	rs1490309743	0.00001
NM_001164508.2(NEB):c.1423A>G (p.Ile475Val)	rs772070576	0.00001
NM_001164508.2(NEB):c.1493A>G (p.Asp498Gly)	rs1255744452	0.00001
NM_001164508.2(NEB):c.1528G>T (p.Val510Phe)	rs749473348	0.00001
NM_001164508.2(NEB):c.1541C>G (p.Ala514Gly)	rs1158635360	0.00001
NM_001164508.2(NEB):c.1620C>T (p.Pro540=)	rs776014034	0.00001
NM_001164508.2(NEB):c.1621C>G (p.Pro541Ala)	rs1324280943	0.00001
NM_001164508.2(NEB):c.1632T>C (p.Pro544=)	rs1466435746	0.00001
NM_001164508.2(NEB):c.16776G>A (p.Leu5592=)	rs2552199754	0.00001
NM_001164508.2(NEB):c.17243G>A (p.Arg5748Gln)	rs773983252	0.00001
NM_001164508.2(NEB):c.17250C>T (p.Asp5750=)	rs2096578127	0.00001
NM_001164508.2(NEB):c.17272A>G (p.Ile5758Val)	rs541672313	0.00001
NM_001164508.2(NEB):c.17301C>A (p.Ile5767=)	rs1310753005	0.00001
NM_001164508.2(NEB):c.17302C>T (p.Leu5768=)	rs2096577327	0.00001
NM_001164508.2(NEB):c.17573C>T (p.Thr5858Met)	rs747699601	0.00001
NM_001164508.2(NEB):c.17644C>T (p.Arg5882Trp)	rs769673154	0.00001
NM_001164508.2(NEB):c.17645G>A (p.Arg5882Gln)	rs558345996	0.00001
NM_001164508.2(NEB):c.17913T>A (p.Asp5971Glu)	rs1167894918	0.00001
NM_001164508.2(NEB):c.17919G>C (p.Lys5973Asn)	rs752928207	0.00001
NM_001164508.2(NEB):c.17938G>A (p.Ala5980Thr)	rs1267739726	0.00001
NM_001164508.2(NEB):c.18083T>C (p.Leu6028Ser)	rs1221212842	0.00001
NM_001164508.2(NEB):c.18144C>T (p.Asp6048=)	rs1319860549	0.00001
NM_001164508.2(NEB):c.18366+9G>A	rs759834773	0.00001
NM_001164508.2(NEB):c.18375T>C (p.Tyr6125=)	rs1300207920	0.00001
NM_001164508.2(NEB):c.1839C>T (p.Ser613=)	rs751976783	0.00001
NM_001164508.2(NEB):c.18531C>T (p.Arg6177=)	rs541088387	0.00001
NM_001164508.2(NEB):c.18865C>T (p.Arg6289Ter)	rs539819851	0.00001
NM_001164508.2(NEB):c.18891+1G>A	rs1443738549	0.00001
NM_001164508.2(NEB):c.18904G>A (p.Asp6302Asn)	rs766403303	0.00001
NM_001164508.2(NEB):c.19101+5G>A	rs374929094	0.00001
NM_001164508.2(NEB):c.19224C>T (p.Ala6408=)	rs773985512	0.00001
NM_001164508.2(NEB):c.19242C>T (p.Ala6414=)	rs773178453	0.00001
NM_001164508.2(NEB):c.19405C>T (p.Arg6469Ter)	rs1553740233	0.00001
NM_001164508.2(NEB):c.19426G>A (p.Asp6476Asn)	rs752626000	0.00001
NM_001164508.2(NEB):c.19543C>T (p.Arg6515Cys)	rs765363585	0.00001
NM_001164508.2(NEB):c.1957C>T (p.Pro653Ser)	rs759215923	0.00001
NM_001164508.2(NEB):c.19613A>T (p.Asp6538Val)	rs747034126	0.00001
NM_001164508.2(NEB):c.19903G>A (p.Asp6635Asn)	rs534519331	0.00001
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=)	rs201553266	0.00001
NM_001164508.2(NEB):c.19959C>T (p.Thr6653=)	rs758068690	0.00001
NM_001164508.2(NEB):c.20033G>A (p.Arg6678His)	rs1487589344	0.00001
NM_001164508.2(NEB):c.20144A>G (p.Asn6715Ser)	rs536934629	0.00001
NM_001164508.2(NEB):c.20332A>G (p.Ile6778Val)	rs753409626	0.00001
NM_001164508.2(NEB):c.203G>A (p.Arg68Lys)	rs1014627144	0.00001
NM_001164508.2(NEB):c.20503C>T (p.Arg6835Ter)	rs370098540	0.00001
NM_001164508.2(NEB):c.20777T>C (p.Met6926Thr)	rs763737123	0.00001
NM_001164508.2(NEB):c.20846C>T (p.Thr6949Met)	rs767461697	0.00001
NM_001164508.2(NEB):c.20897G>A (p.Arg6966His)	rs767230683	0.00001
NM_001164508.2(NEB):c.20977G>A (p.Val6993Ile)	rs779881258	0.00001
NM_001164508.2(NEB):c.21028T>C (p.Leu7010=)	rs750374820	0.00001
NM_001164508.2(NEB):c.21042G>A (p.Arg7014=)	rs778067687	0.00001
NM_001164508.2(NEB):c.21051T>C (p.Pro7017=)	rs767655200	0.00001
NM_001164508.2(NEB):c.21155A>G (p.Tyr7052Cys)	rs755165133	0.00001
NM_001164508.2(NEB):c.21580G>A (p.Asp7194Asn)	rs1254771902	0.00001
NM_001164508.2(NEB):c.21604C>T (p.Arg7202Cys)	rs200826420	0.00001
NM_001164508.2(NEB):c.2162C>T (p.Thr721Ile)	rs749168085	0.00001
NM_001164508.2(NEB):c.21706G>C (p.Ala7236Pro)	rs777945797	0.00001
NM_001164508.2(NEB):c.21761C>A (p.Ala7254Asp)	rs778063345	0.00001
NM_001164508.2(NEB):c.21841-6T>A	rs767466501	0.00001
NM_001164508.2(NEB):c.21970A>C (p.Lys7324Gln)	rs756646859	0.00001
NM_001164508.2(NEB):c.2200C>G (p.Gln734Glu)	rs780299519	0.00001
NM_001164508.2(NEB):c.2211+5G>T	rs797045736	0.00001
NM_001164508.2(NEB):c.22396C>T (p.Arg7466Cys)	rs768826001	0.00001
NM_001164508.2(NEB):c.22485A>G (p.Lys7495=)	rs764127039	0.00001
NM_001164508.2(NEB):c.22489C>T (p.Arg7497Ter)	rs760935667	0.00001
NM_001164508.2(NEB):c.22663C>T (p.His7555Tyr)	rs746454129	0.00001
NM_001164508.2(NEB):c.22750G>A (p.Asp7584Asn)	rs758761216	0.00001
NM_001164508.2(NEB):c.22974A>G (p.Pro7658=)	rs1270451426	0.00001
NM_001164508.2(NEB):c.23054G>A (p.Gly7685Glu)	rs768880396	0.00001
NM_001164508.2(NEB):c.23162A>C (p.Lys7721Thr)	rs1482989886	0.00001
NM_001164508.2(NEB):c.23378T>C (p.Met7793Thr)	rs536677256	0.00001
NM_001164508.2(NEB):c.23626C>T (p.Gln7876Ter)	rs537560378	0.00001
NM_001164508.2(NEB):c.23724G>A (p.Thr7908=)	rs778666699	0.00001
NM_001164508.2(NEB):c.23893G>C (p.Glu7965Gln)	rs767969927	0.00001
NM_001164508.2(NEB):c.23928G>A (p.Ser7976=)	rs558657964	0.00001
NM_001164508.2(NEB):c.23986G>A (p.Glu7996Lys)	rs1202510810	0.00001
NM_001164508.2(NEB):c.24021+8G>A	rs1361035933	0.00001
NM_001164508.2(NEB):c.24044G>A (p.Gly8015Glu)	rs772083580	0.00001
NM_001164508.2(NEB):c.24208_24212dup (p.Tyr8072fs)	rs1553552413	0.00001
NM_001164508.2(NEB):c.24212T>A (p.Leu8071Ter)	rs756726488	0.00001
NM_001164508.2(NEB):c.24486+10G>A	rs755064162	0.00001
NM_001164508.2(NEB):c.24493T>C (p.Tyr8165His)	rs775139388	0.00001
NM_001164508.2(NEB):c.24509G>A (p.Gly8170Glu)	rs398124169	0.00001
NM_001164508.2(NEB):c.24873+7C>T	rs372378614	0.00001
NM_001164508.2(NEB):c.24946C>T (p.Arg8316Ter)	rs758327681	0.00001
NM_001164508.2(NEB):c.25089G>A (p.Ser8363=)	rs766453942	0.00001
NM_001164508.2(NEB):c.25107A>G (p.Pro8369=)	rs763433145	0.00001
NM_001164508.2(NEB):c.25141_25142del (p.Met8381fs)	rs1472403020	0.00001
NM_001164508.2(NEB):c.25172G>A (p.Arg8391Gln)	rs749034995	0.00001
NM_001164508.2(NEB):c.25259C>T (p.Ser8420Leu)	rs949111967	0.00001
NM_001164508.2(NEB):c.25330C>T (p.Gln8444Ter)	rs778104284	0.00001
NM_001164508.2(NEB):c.25390C>A (p.Pro8464Thr)	rs376984481	0.00001
NM_001164508.2(NEB):c.2755C>G (p.His919Asp)	rs373168257	0.00001
NM_001164508.2(NEB):c.2784del (p.Asp929fs)	rs786204430	0.00001
NM_001164508.2(NEB):c.2892T>C (p.Phe964=)	rs762595663	0.00001
NM_001164508.2(NEB):c.2920C>T (p.Arg974Ter)	rs1553548666	0.00001
NM_001164508.2(NEB):c.2943+1G>A	rs113091511	0.00001
NM_001164508.2(NEB):c.2954G>A (p.Arg985His)	rs769987120	0.00001
NM_001164508.2(NEB):c.2968A>G (p.Thr990Ala)	rs1043417027	0.00001
NM_001164508.2(NEB):c.2998C>T (p.Pro1000Ser)	rs763910385	0.00001
NM_001164508.2(NEB):c.3165C>T (p.Asp1055=)	rs1448712345	0.00001
NM_001164508.2(NEB):c.3224C>A (p.Ala1075Asp)	rs574309369	0.00001
NM_001164508.2(NEB):c.3349G>A (p.Val1117Met)	rs1404806019	0.00001
NM_001164508.2(NEB):c.3370C>T (p.Arg1124Trp)	rs758590520	0.00001
NM_001164508.2(NEB):c.3439G>A (p.Val1147Met)	rs757659868	0.00001
NM_001164508.2(NEB):c.3547A>G (p.Met1183Val)	rs371816204	0.00001
NM_001164508.2(NEB):c.3568-10A>G	rs774345653	0.00001
NM_001164508.2(NEB):c.357T>G (p.Thr119=)	rs949991363	0.00001
NM_001164508.2(NEB):c.3721G>T (p.Val1241Leu)	rs537769519	0.00001
NM_001164508.2(NEB):c.3758C>T (p.Thr1253Met)	rs767433330	0.00001
NM_001164508.2(NEB):c.3879+1G>A	rs746999970	0.00001
NM_001164508.2(NEB):c.4125G>A (p.Glu1375=)	rs199897201	0.00001
NM_001164508.2(NEB):c.412C>T (p.Arg138Ter)	rs1057517360	0.00001
NM_001164508.2(NEB):c.413G>A (p.Arg138Gln)	rs747423578	0.00001
NM_001164508.2(NEB):c.4151C>G (p.Pro1384Arg)	rs762809955	0.00001
NM_001164508.2(NEB):c.4392C>T (p.Gly1464=)	rs771527086	0.00001
NM_001164508.2(NEB):c.4413G>A (p.Lys1471=)	rs755877926	0.00001
NM_001164508.2(NEB):c.4664G>A (p.Arg1555Lys)	rs183333679	0.00001
NM_001164508.2(NEB):c.4666C>T (p.Pro1556Ser)	rs756692621	0.00001
NM_001164508.2(NEB):c.4789C>T (p.Pro1597Ser)	rs772492791	0.00001
NM_001164508.2(NEB):c.4883C>A (p.Pro1628His)	rs771495234	0.00001
NM_001164508.2(NEB):c.5091G>C (p.Glu1697Asp)	rs1349969572	0.00001
NM_001164508.2(NEB):c.5239-6T>C	rs1390540636	0.00001
NM_001164508.2(NEB):c.5326C>A (p.Gln1776Lys)	rs1306269352	0.00001
NM_001164508.2(NEB):c.5374A>G (p.Lys1792Glu)	rs541641039	0.00001
NM_001164508.2(NEB):c.5566C>T (p.Arg1856Trp)	rs755791156	0.00001
NM_001164508.2(NEB):c.5571A>G (p.Glu1857=)	rs201539560	0.00001
NM_001164508.2(NEB):c.5652T>C (p.Ser1884=)	rs1296464678	0.00001
NM_001164508.2(NEB):c.5670T>C (p.Asn1890=)	rs777878770	0.00001
NM_001164508.2(NEB):c.5801G>A (p.Gly1934Asp)	rs763717355	0.00001
NM_001164508.2(NEB):c.580C>T (p.Gln194Ter)	rs1032240985	0.00001
NM_001164508.2(NEB):c.5853C>A (p.Ala1951=)	rs757546480	0.00001
NM_001164508.2(NEB):c.5887C>T (p.His1963Tyr)	rs1270867914	0.00001
NM_001164508.2(NEB):c.6020T>C (p.Met2007Thr)	rs199862790	0.00001
NM_001164508.2(NEB):c.6235C>T (p.Arg2079Cys)	rs753064438	0.00001
NM_001164508.2(NEB):c.6298C>T (p.Arg2100Trp)	rs756398214	0.00001
NM_001164508.2(NEB):c.6388G>A (p.Ala2130Thr)	rs756130763	0.00001
NM_001164508.2(NEB):c.6479A>G (p.Asn2160Ser)	rs774148469	0.00001
NM_001164508.2(NEB):c.6505A>G (p.Lys2169Glu)	rs752328965	0.00001
NM_001164508.2(NEB):c.6868G>A (p.Ala2290Thr)	rs777601721	0.00001
NM_001164508.2(NEB):c.6937C>T (p.Arg2313Ter)	rs756363951	0.00001
NM_001164508.2(NEB):c.6968G>A (p.Arg2323Gln)	rs369456343	0.00001
NM_001164508.2(NEB):c.718-6C>T	rs371791129	0.00001
NM_001164508.2(NEB):c.7209T>A (p.Val2403=)	rs778083630	0.00001
NM_001164508.2(NEB):c.7228-1G>A	rs1057516996	0.00001
NM_001164508.2(NEB):c.7374C>T (p.Ser2458=)	rs1318587515	0.00001
NM_001164508.2(NEB):c.739G>A (p.Ala247Thr)	rs571451076	0.00001
NM_001164508.2(NEB):c.7610A>C (p.Lys2537Thr)	rs375216853	0.00001
NM_001164508.2(NEB):c.761C>T (p.Thr254Met)	rs376835458	0.00001
NM_001164508.2(NEB):c.7628G>A (p.Arg2543Gln)	rs758589097	0.00001
NM_001164508.2(NEB):c.7957-7C>A	rs752536311	0.00001
NM_001164508.2(NEB):c.8020G>A (p.Glu2674Lys)	rs369224273	0.00001
NM_001164508.2(NEB):c.8031_8041del (p.Lys2677fs)	rs398124172	0.00001
NM_001164508.2(NEB):c.8257T>C (p.Tyr2753His)	rs548343514	0.00001
NM_001164508.2(NEB):c.8381A>T (p.Tyr2794Phe)	rs750548574	0.00001
NM_001164508.2(NEB):c.877C>T (p.Pro293Ser)	rs200672688	0.00001
NM_001164508.2(NEB):c.8949A>C (p.Thr2983=)	rs774786443	0.00001
NM_001164508.2(NEB):c.8972T>G (p.Met2991Arg)	rs539367087	0.00001
NM_001164508.2(NEB):c.928-1G>A	rs1162553327	0.00001
NM_001164508.2(NEB):c.9414+1G>T	rs1255445731	0.00001
NM_001164508.2(NEB):c.9465C>G (p.Pro3155=)	rs1021985219	0.00001
NM_001164508.2(NEB):c.9540G>A (p.Pro3180=)	rs373833313	0.00001
NM_001164508.2(NEB):c.9796G>A (p.Val3266Met)	rs564504601	0.00001
NM_001164508.2(NEB):c.9810C>T (p.Ala3270=)	rs1170138596	0.00001
NM_001164508.2(NEB):c.9834C>T (p.Tyr3278=)	rs1230248586	0.00001
NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys)	rs779526456	0.00001
NM_001174089.2(SLC4A11):c.2422G>A (p.Val808Met)	rs757244518	0.00001
NM_001174089.2(SLC4A11):c.2518A>G (p.Met840Val)	rs121909396	0.00001
NM_001174089.2(SLC4A11):c.590C>T (p.Ser197Leu)	rs759667344	0.00001
NM_001201543.2(FAM161A):c.1060C>T (p.Arg354Ter)	rs769445913	0.00001
NM_001243279.3(ACSF3):c.1127-7C>G	rs761564953	0.00001
NM_001243279.3(ACSF3):c.1300C>T (p.Arg434Ter)	rs766764090	0.00001
NM_001243279.3(ACSF3):c.1310G>A (p.Trp437Ter)	rs1243213118	0.00001
NM_001243279.3(ACSF3):c.1311G>A (p.Trp437Ter)	rs1909702747	0.00001
NM_001243279.3(ACSF3):c.1329dup (p.Lys444Ter)	rs776995095	0.00001
NM_001243279.3(ACSF3):c.1405C>T (p.Arg469Ter)	rs748382994	0.00001
NM_001243279.3(ACSF3):c.1412G>A (p.Arg471Gln)	rs387907119	0.00001
NM_001243279.3(ACSF3):c.1536G>A (p.Trp512Ter)	rs1025201214	0.00001
NM_001243279.3(ACSF3):c.1580C>G (p.Ser527Ter)	rs1457774840	0.00001
NM_001243279.3(ACSF3):c.1613+1G>A	rs770400253	0.00001
NM_001243279.3(ACSF3):c.348G>A (p.Trp116Ter)	rs757905943	0.00001
NM_001243279.3(ACSF3):c.451G>T (p.Glu151Ter)	rs752338222	0.00001
NM_001243279.3(ACSF3):c.666+1G>A	rs1336382616	0.00001
NM_001243279.3(ACSF3):c.827G>A (p.Trp276Ter)	rs759338401	0.00001
NM_001243279.3(ACSF3):c.866del (p.Val289fs)	rs758740850	0.00001
NM_001283009.2(RTEL1):c.1476G>T (p.Met492Ile)	rs370343781	0.00001
NM_001352514.2(HLCS):c.1083T>C (p.Cys361=)	rs568871363	0.00001
NM_001352514.2(HLCS):c.1088T>G (p.Leu363Arg)	rs28934602	0.00001
NM_001352514.2(HLCS):c.1646G>A (p.Trp549Ter)	rs1342457304	0.00001
NM_001352514.2(HLCS):c.1719C>T (p.Tyr573=)	rs148814769	0.00001
NM_001352514.2(HLCS):c.1850T>C (p.Leu617Ser)	rs1261821166	0.00001
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp)	rs119103229	0.00001
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met)	rs119103231	0.00001
NM_001352514.2(HLCS):c.2295A>G (p.Thr765=)	rs771100802	0.00001
NM_001352514.2(HLCS):c.2451-1G>A	rs1158898827	0.00001
NM_001352514.2(HLCS):c.2529G>A (p.Gln843=)	rs767700692	0.00001
NM_001352514.2(HLCS):c.2567C>T (p.Pro856Leu)	rs1260631800	0.00001
NM_001352514.2(HLCS):c.609C>T (p.Asp203=)	rs370118884	0.00001
NM_001360.3(DHCR7):c.1138T>C (p.Cys380Arg)	rs373306653	0.00001
NM_001360.3(DHCR7):c.1139G>A (p.Cys380Tyr)	rs779709646	0.00001
NM_001360.3(DHCR7):c.1146C>A (p.Tyr382Ter)	rs1555145605	0.00001
NM_001360.3(DHCR7):c.1219A>T (p.Asn407Tyr)	rs770819693	0.00001
NM_001360.3(DHCR7):c.1222T>C (p.Tyr408His)	rs1046560765	0.00001
NM_001360.3(DHCR7):c.1327C>T (p.Arg443Cys)	rs535561852	0.00001
NM_001360.3(DHCR7):c.1351T>C (p.Cys451Arg)	rs761458977	0.00001
NM_001360.3(DHCR7):c.1396G>A (p.Val466Met)	rs760428437	0.00001
NM_001360.3(DHCR7):c.1427A>G (p.Ter476=)	rs1202619413	0.00001
NM_001360.3(DHCR7):c.326T>C (p.Leu109Pro)	rs121912195	0.00001
NM_001360.3(DHCR7):c.412+3A>T	rs786200926	0.00001
NM_001360.3(DHCR7):c.470T>C (p.Leu157Pro)	rs753960624	0.00001
NM_001360.3(DHCR7):c.506C>T (p.Ser169Leu)	rs80338855	0.00001
NM_001360.3(DHCR7):c.51C>T (p.Gly17=)	rs776713087	0.00001
NM_001360.3(DHCR7):c.523G>A (p.Asp175Asn)	rs368269558	0.00001
NM_001360.3(DHCR7):c.545G>A (p.Trp182Ter)	rs536394774	0.00001
NM_001360.3(DHCR7):c.655T>G (p.Tyr219Asp)	rs779896782	0.00001
NM_001360.3(DHCR7):c.670G>A (p.Glu224Lys)	rs373121544	0.00001
NM_001360.3(DHCR7):c.728C>G (p.Pro243Arg)	rs777248132	0.00001
NM_001360.3(DHCR7):c.756C>T (p.Asn252=)	rs774666247	0.00001
NM_001360.3(DHCR7):c.76C>T (p.Gln26Ter)	rs1949389789	0.00001
NM_001360.3(DHCR7):c.82C>T (p.Gln28Ter)	rs756564881	0.00001
NM_001360.3(DHCR7):c.831+2T>A	rs1057516920	0.00001
NM_001360.3(DHCR7):c.841G>A (p.Val281Met)	rs398123607	0.00001
NM_001360.3(DHCR7):c.852C>A (p.Phe284Leu)	rs184297154	0.00001
NM_001360.3(DHCR7):c.866C>T (p.Thr289Ile)	rs121909765	0.00001
NM_001360.3(DHCR7):c.870G>A (p.Trp290Ter)	rs774187452	0.00001
NM_001365088.1(SLC12A6):c.2230C>T (p.Arg744Ter)	rs751184319	0.00001
NM_001365088.1(SLC12A6):c.2809C>T (p.Arg937Ter)	rs1057516262	0.00001
NM_001365088.1(SLC12A6):c.379G>T (p.Glu127Ter)	rs199747285	0.00001
NM_001365088.1(SLC12A6):c.619C>T (p.Arg207Cys)	rs121908429	0.00001
NM_001365088.1(SLC12A6):c.776del (p.Ala259fs)	rs776790336	0.00001
NM_001369.3(DNAH5):c.10044C>T (p.Pro3348=)	rs369902800	0.00001
NM_001369.3(DNAH5):c.10441C>T (p.Arg3481Ter)	rs886039500	0.00001
NM_001369.3(DNAH5):c.10877C>T (p.Thr3626Met)	rs376067762	0.00001
NM_001369.3(DNAH5):c.11326G>A (p.Val3776Ile)	rs559545340	0.00001
NM_001369.3(DNAH5):c.11694G>T (p.Leu3898Phe)	rs200798994	0.00001
NM_001369.3(DNAH5):c.12107G>A (p.Trp4036Ter)	rs760104757	0.00001
NM_001369.3(DNAH5):c.12109G>C (p.Glu4037Gln)	rs775060022	0.00001
NM_001369.3(DNAH5):c.12114A>T (p.Glu4038Asp)	rs749640233	0.00001
NM_001369.3(DNAH5):c.12124C>T (p.Arg4042Trp)	rs768164911	0.00001
NM_001369.3(DNAH5):c.12250C>T (p.Arg4084Trp)	rs752895938	0.00001
NM_001369.3(DNAH5):c.12285A>T (p.Gly4095=)	rs774115728	0.00001
NM_001369.3(DNAH5):c.12561A>T (p.Ala4187=)	rs763160068	0.00001
NM_001369.3(DNAH5):c.12880A>G (p.Thr4294Ala)	rs765649176	0.00001
NM_001369.3(DNAH5):c.13077G>A (p.Leu4359=)	rs148805204	0.00001
NM_001369.3(DNAH5):c.13633T>C (p.Trp4545Arg)	rs1161303371	0.00001
NM_001369.3(DNAH5):c.172G>A (p.Ala58Thr)	rs770299088	0.00001
NM_001369.3(DNAH5):c.1837G>A (p.Asp613Asn)	rs141072655	0.00001
NM_001369.3(DNAH5):c.1904A>G (p.His635Arg)	rs564653952	0.00001
NM_001369.3(DNAH5):c.2259+8A>G	rs202137813	0.00001
NM_001369.3(DNAH5):c.252T>G (p.Tyr84Ter)	rs754982008	0.00001
NM_001369.3(DNAH5):c.2533C>T (p.Gln845Ter)	rs1060501458	0.00001
NM_001369.3(DNAH5):c.257A>G (p.Asp86Gly)	rs147441805	0.00001
NM_001369.3(DNAH5):c.2674del (p.Val892fs)	rs1772380356	0.00001
NM_001369.3(DNAH5):c.3013A>T (p.Asn1005Tyr)	rs770975422	0.00001
NM_001369.3(DNAH5):c.3064G>A (p.Val1022Ile)	rs375218798	0.00001
NM_001369.3(DNAH5):c.3427C>T (p.Arg1143Cys)	rs775816222	0.00001
NM_001369.3(DNAH5):c.3642G>A (p.Met1214Ile)	rs1364628669	0.00001
NM_001369.3(DNAH5):c.3821T>C (p.Val1274Ala)	rs761168416	0.00001
NM_001369.3(DNAH5):c.4269A>G (p.Ile1423Met)	rs779020258	0.00001
NM_001369.3(DNAH5):c.4329C>T (p.Asn1443=)	rs750736449	0.00001
NM_001369.3(DNAH5):c.4348C>T (p.Gln1450Ter)	rs771663107	0.00001
NM_001369.3(DNAH5):c.4703G>A (p.Arg1568His)	rs200994058	0.00001
NM_001369.3(DNAH5):c.4827A>G (p.Gln1609=)	rs1368574132	0.00001
NM_001369.3(DNAH5):c.5146C>T (p.Arg1716Trp)	rs368644722	0.00001
NM_001369.3(DNAH5):c.5199G>A (p.Ser1733=)	rs142806046	0.00001
NM_001369.3(DNAH5):c.5536C>G (p.Leu1846Val)	rs1311080684	0.00001
NM_001369.3(DNAH5):c.553G>A (p.Glu185Lys)	rs752339132	0.00001
NM_001369.3(DNAH5):c.5552T>C (p.Phe1851Ser)	rs368576880	0.00001
NM_001369.3(DNAH5):c.5563A>G (p.Ile1855Val)	rs1259929811	0.00001
NM_001369.3(DNAH5):c.5883-1G>A	rs1195745037	0.00001
NM_001369.3(DNAH5):c.5983C>T (p.Arg1995Ter)	rs773711154	0.00001
NM_001369.3(DNAH5):c.6183G>A (p.Lys2061=)	rs1763433728	0.00001
NM_001369.3(DNAH5):c.6304C>T (p.Arg2102Cys)	rs767019228	0.00001
NM_001369.3(DNAH5):c.6335_6336insT (p.Gln2112fs)	rs779506456	0.00001
NM_001369.3(DNAH5):c.6444G>A (p.Gln2148=)	rs769544175	0.00001
NM_001369.3(DNAH5):c.6498A>G (p.Gly2166=)	rs764201218	0.00001
NM_001369.3(DNAH5):c.6544A>G (p.Met2182Val)	rs778507942	0.00001
NM_001369.3(DNAH5):c.6556C>T (p.Arg2186Trp)	rs756444637	0.00001
NM_001369.3(DNAH5):c.7096C>T (p.Arg2366Trp)	rs868151020	0.00001
NM_001369.3(DNAH5):c.710C>T (p.Pro237Leu)	rs757970855	0.00001
NM_001369.3(DNAH5):c.7131C>T (p.Phe2377=)	rs562255121	0.00001
NM_001369.3(DNAH5):c.7484C>T (p.Ala2495Val)	rs768364281	0.00001
NM_001369.3(DNAH5):c.7515G>A (p.Glu2505=)	rs1032671138	0.00001
NM_001369.3(DNAH5):c.7557G>A (p.Pro2519=)	rs1277087280	0.00001
NM_001369.3(DNAH5):c.7915C>T (p.Arg2639Ter)	rs375053470	0.00001
NM_001369.3(DNAH5):c.8030G>A (p.Arg2677Gln)	rs886043448	0.00001
NM_001369.3(DNAH5):c.832del (p.Ala278fs)	rs727502977	0.00001
NM_001369.3(DNAH5):c.8383C>T (p.Arg2795Ter)	rs560398270	0.00001
NM_001369.3(DNAH5):c.8497C>T (p.Arg2833Cys)	rs766481283	0.00001
NM_001369.3(DNAH5):c.8517T>A (p.Asp2839Glu)	rs1318152994	0.00001
NM_001369.3(DNAH5):c.8827C>T (p.Arg2943Cys)	rs758324905	0.00001
NM_001369.3(DNAH5):c.8840C>T (p.Thr2947Ile)	rs756216163	0.00001
NM_001369.3(DNAH5):c.8998C>T (p.Arg3000Ter)	rs769054713	0.00001
NM_001369.3(DNAH5):c.9111T>C (p.Ser3037=)	rs765029802	0.00001
NM_001369.3(DNAH5):c.9213C>T (p.His3071=)	rs563907105	0.00001
NM_001369.3(DNAH5):c.935T>G (p.Val312Gly)	rs762677340	0.00001
NM_001369.3(DNAH5):c.9379G>T (p.Glu3127Ter)	rs758303032	0.00001
NM_001369.3(DNAH5):c.9477G>A (p.Lys3159=)	rs1300247439	0.00001
NM_001369.3(DNAH5):c.9589C>T (p.Arg3197Trp)	rs753913853	0.00001
NM_001369.3(DNAH5):c.9720+5G>A	rs763440781	0.00001
NM_001369.3(DNAH5):c.9778C>T (p.Gln3260Ter)	rs1752923333	0.00001
NM_001369.3(DNAH5):c.9897+9A>G	rs774932799	0.00001
NM_001369.3(DNAH5):c.9980del (p.Leu3327fs)	rs1752478598	0.00001
NM_001370658.1(BTD):c.-17+2T>C	rs745648160	0.00001
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val)	rs104893686	0.00001
NM_001370658.1(BTD):c.1193G>C (p.Cys398Ser)	rs397514410	0.00001
NM_001370658.1(BTD):c.124G>A (p.Val42Met)	rs397507170	0.00001
NM_001370658.1(BTD):c.1274G>T (p.Gly425Val)	rs397514402	0.00001
NM_001370658.1(BTD):c.1324del (p.Arg442fs)	rs397514420	0.00001
NM_001370658.1(BTD):c.1399del (p.Trp467fs)	rs397514423	0.00001
NM_001370658.1(BTD):c.1553G>A (p.Arg518His)	rs397514429	0.00001
NM_001370658.1(BTD):c.175C>T (p.Arg59Cys)	rs104893687	0.00001
NM_001370658.1(BTD):c.176G>A (p.Arg59His)	rs397514343	0.00001
NM_001370658.1(BTD):c.250-15del	rs587783008	0.00001
NM_001370658.1(BTD):c.281G>T (p.Gly94Val)	rs375712490	0.00001
NM_001370658.1(BTD):c.360G>A (p.Trp120Ter)	rs1306944669	0.00001
NM_001370658.1(BTD):c.385T>C (p.Phe129Leu)	rs397514359	0.00001
NM_001370658.1(BTD):c.399G>A (p.Glu133=)	rs397514360	0.00001
NM_001370658.1(BTD):c.409C>T (p.Arg137Cys)	rs397514363	0.00001
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser)	rs119103232	0.00001
NM_001370658.1(BTD):c.523A>G (p.Asn175Asp)	rs397514370	0.00001
NM_001370658.1(BTD):c.571C>T (p.Arg191Cys)	rs372844636	0.00001
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile)	rs587783005	0.00001
NM_001370658.1(BTD):c.649G>A (p.Ala217Thr)	rs397514381	0.00001
NM_001370658.1(BTD):c.704T>C (p.Ile235Thr)	rs397514384	0.00001
NM_001370658.1(BTD):c.941_942del (p.Ile314fs)	rs749162799	0.00001
NM_001378454.1(ALMS1):c.10137A>G (p.Gln3379=)	rs756623131	0.00001
NM_001378454.1(ALMS1):c.10318A>G (p.Arg3440Gly)	rs746702722	0.00001
NM_001378454.1(ALMS1):c.1051C>T (p.Arg351Ter)	rs1275113273	0.00001
NM_001378454.1(ALMS1):c.10816C>T (p.Arg3606Trp)	rs1250097723	0.00001
NM_001378454.1(ALMS1):c.10822C>T (p.Arg3608Ter)	rs1192396248	0.00001
NM_001378454.1(ALMS1):c.10882C>T (p.Arg3628Ter)	rs1473611414	0.00001
NM_001378454.1(ALMS1):c.10947T>C (p.Ser3649=)	rs373024720	0.00001
NM_001378454.1(ALMS1):c.11104C>A (p.Arg3702=)	rs747747269	0.00001
NM_001378454.1(ALMS1):c.11643C>T (p.His3881=)	rs1296746698	0.00001
NM_001378454.1(ALMS1):c.11873-10T>A	rs1022167078	0.00001
NM_001378454.1(ALMS1):c.12164G>A (p.Arg4055Gln)	rs752714698	0.00001
NM_001378454.1(ALMS1):c.161T>A (p.Leu54Ter)	rs755760721	0.00001
NM_001378454.1(ALMS1):c.1732del (p.Arg578fs)	rs777476179	0.00001
NM_001378454.1(ALMS1):c.2041C>T (p.Gln681Ter)	rs190439406	0.00001
NM_001378454.1(ALMS1):c.2049G>A (p.Leu683=)	rs1572931934	0.00001
NM_001378454.1(ALMS1):c.2184A>G (p.Gln728=)	rs572605877	0.00001
NM_001378454.1(ALMS1):c.2226A>G (p.Lys742=)	rs569911295	0.00001
NM_001378454.1(ALMS1):c.3246A>G (p.Pro1082=)	rs532389598	0.00001
NM_001378454.1(ALMS1):c.360_363dup (p.Tyr122fs)	rs753301358	0.00001
NM_001378454.1(ALMS1):c.3649A>T (p.Lys1217Ter)	rs779928593	0.00001
NM_001378454.1(ALMS1):c.367C>T (p.Gln123Ter)	rs1392057115	0.00001
NM_001378454.1(ALMS1):c.3687_3688del (p.Gly1230fs)	rs1296683633	0.00001
NM_001378454.1(ALMS1):c.4180C>T (p.Gln1394Ter)	rs969786171	0.00001
NM_001378454.1(ALMS1):c.4347dup (p.Glu1450Ter)	rs778728424	0.00001
NM_001378454.1(ALMS1):c.4995C>T (p.Tyr1665=)	rs762003836	0.00001
NM_001378454.1(ALMS1):c.5142T>G (p.Tyr1714Ter)	rs772136379	0.00001
NM_001378454.1(ALMS1):c.5380C>T (p.Gln1794Ter)	rs759024519	0.00001
NM_001378454.1(ALMS1):c.5452C>T (p.Arg1818Ter)	rs749339938	0.00001
NM_001378454.1(ALMS1):c.6156A>G (p.Val2052=)	rs1183098792	0.00001
NM_001378454.1(ALMS1):c.619A>T (p.Arg207Ter)	rs771994237	0.00001
NM_001378454.1(ALMS1):c.646+8C>G	rs760012033	0.00001
NM_001378454.1(ALMS1):c.6479del (p.His2160fs)	rs1200296507	0.00001
NM_001378454.1(ALMS1):c.6831C>A (p.Cys2277Ter)	rs761713440	0.00001
NM_001378454.1(ALMS1):c.7005T>C (p.Asp2335=)	rs781592497	0.00001
NM_001378454.1(ALMS1):c.8904A>G (p.Gln2968=)	rs777796888	0.00001
NM_001378454.1(ALMS1):c.9384A>G (p.Val3128=)	rs752453102	0.00001
NM_001378454.1(ALMS1):c.9607C>T (p.Gln3203Ter)	rs956247442	0.00001
NM_001378454.1(ALMS1):c.975G>A (p.Ser325=)	rs370267673	0.00001
NM_001384140.1(PCDH15):c.1006C>T (p.Arg336Ter)	rs370261904	0.00001
NM_001384140.1(PCDH15):c.158-2A>T	rs1304228309	0.00001
NM_001384140.1(PCDH15):c.1997+1G>A	rs763797356	0.00001
NM_001384140.1(PCDH15):c.2785C>T (p.Arg929Ter)	rs1057516342	0.00001
NM_001384140.1(PCDH15):c.3717+2dup	rs1248401224	0.00001
NM_001384140.1(PCDH15):c.3983+1G>T	rs758921360	0.00001
NM_001384140.1(PCDH15):c.400C>T (p.Arg134Ter)	rs137853003	0.00001
NM_001384140.1(PCDH15):c.401G>A (p.Arg134Gln)	rs767966376	0.00001
NM_001384140.1(PCDH15):c.7C>T (p.Arg3Ter)	rs137853001	0.00001
NM_001384474.1(LOXHD1):c.4282C>T (p.Arg1428Ter)	rs932266011	0.00001
NM_001384474.1(LOXHD1):c.4794_4795insTC (p.Ile1599fs)	rs1598914701	0.00001
NM_001384474.1(LOXHD1):c.4936C>T (p.Arg1646Ter)	rs960741408	0.00001
NM_001384474.1(LOXHD1):c.5731G>A (p.Gly1911Arg)	rs780560784	0.00001
NM_001384474.1(LOXHD1):c.6130C>T (p.Arg2044Ter)	rs1306586204	0.00001
NM_001386140.1(MTTP):c.1392del (p.Glu465fs)	rs1725827570	0.00001
NM_001386140.1(MTTP):c.1867+5G>A	rs1429774833	0.00001
NM_001399.5(EDA):c.1144G>T (p.Ala382Ser)	rs749830948	0.00001
NM_001399.5(EDA):c.249C>G (p.Thr83=)	rs769141538	0.00001
NM_001399.5(EDA):c.570C>T (p.Pro190=)	rs1328353332	0.00001
NM_001673.5(ASNS):c.1192dup (p.Tyr398fs)	rs773348232	0.00001
NM_001673.5(ASNS):c.1210C>T (p.Arg404Cys)	rs375234125	0.00001
NM_001673.5(ASNS):c.1439C>T (p.Ser480Phe)	rs754043007	0.00001
NM_001673.5(ASNS):c.1648C>T (p.Arg550Cys)	rs398122974	0.00001
NM_001673.5(ASNS):c.706del (p.Arg236fs)	rs1791584683	0.00001
NM_001692.4(ATP6V1B1):c.1248+1G>C	rs1553420702	0.00001
NM_001692.4(ATP6V1B1):c.242T>C (p.Leu81Pro)	rs121964880	0.00001
NM_001692.4(ATP6V1B1):c.393G>A (p.Lys131=)	rs1332086842	0.00001
NM_001692.4(ATP6V1B1):c.469C>T (p.Arg157Cys)	rs782500780	0.00001
NM_001692.4(ATP6V1B1):c.988G>A (p.Glu330Lys)	rs781800676	0.00001
NM_001875.5(CPS1):c.1631C>T (p.Thr544Met)	rs121912592	0.00001
NM_001875.5(CPS1):c.1708-5G>A	rs571670790	0.00001
NM_001875.5(CPS1):c.1837-8A>G	rs1290474919	0.00001
NM_001875.5(CPS1):c.1912C>T (p.Arg638Ter)	rs759201450	0.00001
NM_001875.5(CPS1):c.1926del (p.Asp642fs)	rs1326644714	0.00001
NM_001875.5(CPS1):c.1932T>A (p.Cys644Ter)	rs1251623714	0.00001
NM_001875.5(CPS1):c.2440C>T (p.Arg814Trp)	rs772782772	0.00001
NM_001875.5(CPS1):c.2732G>A (p.Gly911Glu)	rs1388955593	0.00001
NM_001875.5(CPS1):c.2740G>C (p.Asp914His)	rs765484849	0.00001
NM_001875.5(CPS1):c.2883_2895del (p.Tyr962fs)	rs1375304341	0.00001
NM_001875.5(CPS1):c.2945G>T (p.Gly982Val)	rs121912595	0.00001
NM_001875.5(CPS1):c.3303G>A (p.Val1101=)	rs774531676	0.00001
NM_001875.5(CPS1):c.3608C>T (p.Ser1203Leu)	rs149518280	0.00001
NM_001875.5(CPS1):c.3683G>A (p.Arg1228Gln)	rs778117194	0.00001
NM_001875.5(CPS1):c.390T>A (p.Gly130=)	rs577598098	0.00001
NM_001875.5(CPS1):c.4112G>A (p.Arg1371Gln)	rs765106604	0.00001
NM_001875.5(CPS1):c.4172C>T (p.Thr1391Met)	rs1392934477	0.00001
NM_001875.5(CPS1):c.4357C>T (p.Arg1453Trp)	rs933813349	0.00001
NM_001875.5(CPS1):c.697C>T (p.Arg233Cys)	rs767905306	0.00001
NM_001875.5(CPS1):c.712C>T (p.Arg238Ter)	rs761225695	0.00001
NM_001875.5(CPS1):c.902G>A (p.Gly301Glu)	rs973321068	0.00001
NM_001876.4(CPT1A):c.1393G>A (p.Gly465Arg)	rs80356784	0.00001
NM_001876.4(CPT1A):c.1449C>A (p.His483Gln)	rs1165511243	0.00001
NM_001876.4(CPT1A):c.1500G>A (p.Glu500=)	rs760474415	0.00001
NM_001876.4(CPT1A):c.1792C>T (p.Arg598Ter)	rs773153659	0.00001
NM_001876.4(CPT1A):c.589G>T (p.Glu197Ter)	rs1211665230	0.00001
NM_001876.4(CPT1A):c.704G>A (p.Trp235Ter)	rs1855769135	0.00001
NM_001876.4(CPT1A):c.727C>T (p.Arg243Ter)	rs779893091	0.00001
NM_002225.5(IVD):c.1009C>T (p.Arg337Trp)	rs776608445	0.00001
NM_002225.5(IVD):c.1010G>A (p.Arg337Gln)	rs139908696	0.00001
NM_002225.5(IVD):c.1030G>A (p.Ala344Thr)	rs1355297002	0.00001
NM_002225.5(IVD):c.1108C>T (p.Gln370Ter)	rs368705240	0.00001
NM_002225.5(IVD):c.1112T>C (p.Val371Ala)	rs754600862	0.00001
NM_002225.5(IVD):c.1123G>A (p.Gly375Ser)	rs544110604	0.00001
NM_002225.5(IVD):c.1160A>G (p.Asp387Gly)	rs1163816425	0.00001
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln)	rs1477527791	0.00001
NM_002225.5(IVD):c.1199A>G (p.Tyr400Cys)	rs773560012	0.00001
NM_002225.5(IVD):c.1231C>T (p.Arg411Trp)	rs1237032588	0.00001
NM_002225.5(IVD):c.149G>A (p.Arg50His)	rs2229311	0.00001
NM_002225.5(IVD):c.150T>A (p.Arg50=)	rs762440985	0.00001
NM_002225.5(IVD):c.232C>T (p.Arg78Ter)	rs765815516	0.00001
NM_002225.5(IVD):c.286+2T>C	rs748026507	0.00001
NM_002225.5(IVD):c.357C>T (p.Ser119=)	rs776924775	0.00001
NM_002225.5(IVD):c.381del (p.Ala128fs)	rs769048174	0.00001
NM_002225.5(IVD):c.397_398del (p.Cys133fs)	rs398123682	0.00001
NM_002225.5(IVD):c.456+2T>C	rs398123683	0.00001
NM_002225.5(IVD):c.457-2A>G	rs771914739	0.00001
NM_002225.5(IVD):c.498del (p.Glu166fs)	rs398123684	0.00001
NM_002225.5(IVD):c.539C>T (p.Ala180Val)	rs559732306	0.00001
NM_002225.5(IVD):c.784+9C>T	rs1891254953	0.00001
NM_002225.5(IVD):c.865G>A (p.Gly289Arg)	rs568885234	0.00001
NM_002225.5(IVD):c.890C>T (p.Ala297Val)	rs796051983	0.00001
NM_002435.3(MPI):c.1086G>A (p.Leu362=)	rs905233208	0.00001
NM_002435.3(MPI):c.1253G>A (p.Arg418His)	rs863225087	0.00001
NM_002435.3(MPI):c.13C>T (p.Arg5Ter)	rs1452559752	0.00001
NM_002435.3(MPI):c.166C>T (p.Arg56Ter)	rs757168691	0.00001
NM_002435.3(MPI):c.27T>G (p.Leu9=)	rs193018589	0.00001
NM_002435.3(MPI):c.488-1G>C	rs759579169	0.00001
NM_002435.3(MPI):c.652A>T (p.Lys218Ter)	rs1057516424	0.00001
NM_002435.3(MPI):c.718C>T (p.Gln240Ter)	rs776340315	0.00001
NM_002435.3(MPI):c.855G>A (p.Glu285=)	rs769504650	0.00001
NM_002454.3(MTRR):c.1086G>A (p.Ala362=)	rs750381895	0.00001
NM_002454.3(MTRR):c.1156C>T (p.Arg386Ter)	rs1421007019	0.00001
NM_002454.3(MTRR):c.1361C>T (p.Ser454Leu)	rs137853062	0.00001
NM_002454.3(MTRR):c.1443A>G (p.Thr481=)	rs1359474445	0.00001
NM_002454.3(MTRR):c.1554_1557+3del	rs754619743	0.00001
NM_002454.3(MTRR):c.1769+8A>G	rs892239997	0.00001
NM_002454.3(MTRR):c.1780A>T (p.Arg594Ter)	rs1293600145	0.00001
NM_002454.3(MTRR):c.1890G>A (p.Gln630=)	rs9282786	0.00001
NM_002454.3(MTRR):c.230del (p.Gln77fs)	rs1408257020	0.00001
NM_002454.3(MTRR):c.399A>G (p.Val133=)	rs560392566	0.00001
NM_002485.5(NBN):c.1056A>G (p.Leu352=)	rs369092711	0.00001
NM_002485.5(NBN):c.11del (p.Leu4fs)	rs1064793210	0.00001
NM_002485.5(NBN):c.1397+3C>G	rs876660481	0.00001
NM_002485.5(NBN):c.1645A>T (p.Lys549Ter)	rs1810540992	0.00001
NM_002485.5(NBN):c.2117C>G (p.Ser706Ter)	rs730881857	0.00001
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter)	rs730881864	0.00001
NM_002485.5(NBN):c.481-2A>T	rs751567476	0.00001
NM_002485.5(NBN):c.666C>T (p.Phe222=)	rs876661098	0.00001
NM_002485.5(NBN):c.7A>T (p.Lys3Ter)	rs779098734	0.00001
NM_002485.5(NBN):c.897G>A (p.Arg299=)	rs779798363	0.00001
NM_002529.4(NTRK1):c.1158C>T (p.Asn386=)	rs2102906406	0.00001
NM_002529.4(NTRK1):c.12C>T (p.Gly4=)	rs757229319	0.00001
NM_002529.4(NTRK1):c.1359G>A (p.Pro453=)	rs200937156	0.00001
NM_002529.4(NTRK1):c.1550G>A (p.Gly517Glu)	rs606231467	0.00001
NM_002529.4(NTRK1):c.1597C>T (p.Leu533=)	rs760564817	0.00001
NM_002529.4(NTRK1):c.1647G>A (p.Ala549=)	rs771010259	0.00001
NM_002529.4(NTRK1):c.1650C>T (p.Ser550=)	rs774664479	0.00001
NM_002529.4(NTRK1):c.1734C>G (p.Val578=)	rs953974597	0.00001
NM_002529.4(NTRK1):c.1805+8C>A	rs780424308	0.00001
NM_002529.4(NTRK1):c.1926G>A (p.Ala642=)	rs930810955	0.00001
NM_002529.4(NTRK1):c.2047-6T>C	rs762866535	0.00001
NM_002529.4(NTRK1):c.2074C>T (p.Arg692Cys)	rs761967383	0.00001
NM_002529.4(NTRK1):c.2084C>T (p.Pro695Leu)	rs121964868	0.00001
NM_002529.4(NTRK1):c.2124C>T (p.Ser708=)	rs1371693296	0.00001
NM_002529.4(NTRK1):c.2143G>A (p.Val715Met)	rs759190964	0.00001
NM_002529.4(NTRK1):c.2281C>T (p.Arg761Trp)	rs759637817	0.00001
NM_002529.4(NTRK1):c.2303C>T (p.Pro768Leu)	rs756981419	0.00001
NM_002529.4(NTRK1):c.2311C>T (p.Arg771Cys)	rs1324983370	0.00001
NM_002529.4(NTRK1):c.2312G>A (p.Arg771His)	rs780724170	0.00001
NM_002529.4(NTRK1):c.311G>A (p.Arg104His)	rs578095133	0.00001
NM_002529.4(NTRK1):c.638T>C (p.Leu213Pro)	rs747711259	0.00001
NM_002529.4(NTRK1):c.851-7C>G	rs761080232	0.00001
NM_003060.4(SLC22A5):c.1072T>A (p.Tyr358Asn)	rs61731073	0.00001
NM_003060.4(SLC22A5):c.1085C>T (p.Ser362Leu)	rs886042092	0.00001
NM_003060.4(SLC22A5):c.1139C>T (p.Ala380Val)	rs746187344	0.00001
NM_003060.4(SLC22A5):c.113C>A (p.Ser38Tyr)	rs369354736	0.00001
NM_003060.4(SLC22A5):c.1198C>T (p.Arg400Cys)	rs1249681027	0.00001
NM_003060.4(SLC22A5):c.122T>G (p.Phe41Cys)	rs1335556134	0.00001
NM_003060.4(SLC22A5):c.1250dup (p.Met417fs)	rs781330134	0.00001
NM_003060.4(SLC22A5):c.1336G>T (p.Val446Phe)	rs72552733	0.00001
NM_003060.4(SLC22A5):c.1340A>G (p.Tyr447Cys)	rs386134218	0.00001
NM_003060.4(SLC22A5):c.1354G>A (p.Glu452Lys)	rs72552734	0.00001
NM_003060.4(SLC22A5):c.137C>T (p.Pro46Leu)	rs377767445	0.00001
NM_003060.4(SLC22A5):c.338G>A (p.Cys113Tyr)	rs727504159	0.00001
NM_003060.4(SLC22A5):c.349T>C (p.Trp117Arg)	rs398123692	0.00001
NM_003060.4(SLC22A5):c.371A>G (p.Tyr124Cys)	rs762126547	0.00001
NM_003060.4(SLC22A5):c.394-16T>A	rs775097754	0.00001
NM_003060.4(SLC22A5):c.396G>A (p.Trp132Ter)	rs72552727	0.00001
NM_003060.4(SLC22A5):c.428C>T (p.Pro143Leu)	rs1178584184	0.00001
NM_003060.4(SLC22A5):c.43G>T (p.Gly15Trp)	rs267607052	0.00001
NM_003060.4(SLC22A5):c.56G>C (p.Arg19Pro)	rs72552723	0.00001
NM_003060.4(SLC22A5):c.629A>G (p.Asn210Ser)	rs386134198	0.00001
NM_003060.4(SLC22A5):c.632A>G (p.Tyr211Cys)	rs121908888	0.00001
NM_003060.4(SLC22A5):c.71del (p.Leu24fs)	rs775502377	0.00001
NM_003060.4(SLC22A5):c.77G>A (p.Ser26Asn)	rs772578415	0.00001
NM_003060.4(SLC22A5):c.825-1G>C	rs1057516805	0.00001
NM_003060.4(SLC22A5):c.839C>T (p.Ser280Phe)	rs386134208	0.00001
NM_003060.4(SLC22A5):c.865C>T (p.Arg289Ter)	rs386134212	0.00001
NM_003227.4(TFR2):c.1288G>A (p.Gly430Arg)	rs780902940	0.00001
NM_003384.3(VRK1):c.1132_1133insT (p.Thr378fs)	rs892468166	0.00001
NM_003384.3(VRK1):c.265C>T (p.Arg89Ter)	rs772263867	0.00001
NM_003384.3(VRK1):c.576+9A>G	rs978347799	0.00001
NM_003384.3(VRK1):c.6del (p.Arg3fs)	rs780789145	0.00001
NM_003640.5(ELP1):c.2598C>T (p.Pro866=)	rs773218149	0.00001
NM_003640.5(ELP1):c.3441A>G (p.Gln1147=)	rs779796058	0.00001
NM_003640.5(ELP1):c.959-8C>T	rs766511916	0.00001
NM_003742.4(ABCB11):c.1259T>C (p.Ile420Thr)	rs1693919240	0.00001
NM_003742.4(ABCB11):c.1493T>C (p.Ile498Thr)	rs752043324	0.00001
NM_003742.4(ABCB11):c.1535T>C (p.Ile512Thr)	rs886044202	0.00001
NM_003742.4(ABCB11):c.154C>T (p.Arg52Trp)	rs763526610	0.00001
NM_003742.4(ABCB11):c.2095T>C (p.Ser699Pro)	rs867525294	0.00001
NM_003742.4(ABCB11):c.2316T>G (p.Tyr772Ter)	rs1371940395	0.00001
NM_003742.4(ABCB11):c.2343+1G>T	rs774411820	0.00001
NM_003742.4(ABCB11):c.403G>A (p.Glu135Lys)	rs752992432	0.00001
NM_003907.3(EIF2B5):c.1280C>T (p.Pro427Leu)	rs113994078	0.00001
NM_003907.3(EIF2B5):c.1360C>T (p.Pro454Ser)	rs766921114	0.00001
NM_003907.3(EIF2B5):c.1946T>C (p.Ile649Thr)	rs1064794256	0.00001
NM_003907.3(EIF2B5):c.913A>T (p.Met305Leu)	rs200143780	0.00001
NM_003907.3(EIF2B5):c.915G>A (p.Met305Ile)	rs1431803321	0.00001
NM_003982.4(SLC7A7):c.1147_1151dup (p.Tyr384Ter)	rs386833798	0.00001
NM_003982.4(SLC7A7):c.1244_1245insTTAC (p.Lys415fs)	rs752263234	0.00001
NM_003982.4(SLC7A7):c.1383_1384del (p.Ile461fs)	rs1355745932	0.00001
NM_003982.4(SLC7A7):c.1387del (p.Val463fs)	rs386833806	0.00001
NM_003982.4(SLC7A7):c.1497A>C (p.Gly499=)	rs1566438384	0.00001
NM_003982.4(SLC7A7):c.161G>T (p.Gly54Val)	rs121908677	0.00001
NM_003982.4(SLC7A7):c.2T>C (p.Met1Thr)	rs1261517099	0.00001
NM_003982.4(SLC7A7):c.545dup (p.Val183fs)	rs386833818	0.00001
NM_003982.4(SLC7A7):c.585G>A (p.Leu195=)	rs768649205	0.00001
NM_003982.4(SLC7A7):c.998+9G>C	rs1350841635	0.00001
NM_004004.6(GJB2):c.-22-1G>A	rs551625098	0.00001
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter)	rs104894413	0.00001
NM_004004.6(GJB2):c.133G>A (p.Gly45Arg)	rs1326514987	0.00001
NM_004004.6(GJB2):c.188T>C (p.Val63Ala)	rs727504309	0.00001
NM_004004.6(GJB2):c.19C>T (p.Gln7Ter)	rs111033451	0.00001
NM_004004.6(GJB2):c.227T>C (p.Leu76Pro)	rs111033361	0.00001
NM_004004.6(GJB2):c.246C>G (p.Ile82Met)	rs781534323	0.00001
NM_004004.6(GJB2):c.31_68del (p.Gly11fs)	rs397516873	0.00001
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile)	rs111033295	0.00001
NM_004004.6(GJB2):c.408C>A (p.Tyr136Ter)	rs786204690	0.00001
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln)	rs104894401	0.00001
NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr)	rs774518779	0.00001
NM_004004.6(GJB2):c.514T>A (p.Trp172Arg)	rs770330002	0.00001
NM_004004.6(GJB2):c.583A>G (p.Met195Val)	rs532203068	0.00001
NM_004004.6(GJB2):c.584T>C (p.Met195Thr)	rs1378679640	0.00001
NM_004004.6(GJB2):c.60T>G (p.Ile20Met)	rs749693224	0.00001
NM_004006.3(DMD):c.1712T>C (p.Phe571Ser)	rs1326680081	0.00001
NM_004006.3(DMD):c.3953A>G (p.Asp1318Gly)	rs759820971	0.00001
NM_004006.3(DMD):c.5255T>C (p.Leu1752Ser)	rs373428963	0.00001
NM_004006.3(DMD):c.5439T>C (p.Asn1813=)	rs1238738620	0.00001
NM_004006.3(DMD):c.6431A>T (p.Tyr2144Phe)	rs1569551376	0.00001
NM_004035.7(ACOX1):c.1128A>C (p.Gly376=)	rs774862216	0.00001
NM_004035.7(ACOX1):c.538+1G>A	rs1466419887	0.00001
NM_004035.7(ACOX1):c.659-4G>A	rs746563980	0.00001
NM_004035.7(ACOX1):c.679G>A (p.Gly227Ser)	rs1002618350	0.00001
NM_004453.4(ETFDH):c.1668C>T (p.Pro556=)	rs747312700	0.00001
NM_004453.4(ETFDH):c.1690+2T>G	rs767238539	0.00001
NM_004453.4(ETFDH):c.1758T>C (p.Cys586=)	rs755342205	0.00001
NM_004453.4(ETFDH):c.413T>G (p.Leu138Arg)	rs779896449	0.00001
NM_004453.4(ETFDH):c.524G>A (p.Arg175His)	rs121964955	0.00001
NM_004453.4(ETFDH):c.606+3T>G	rs1240083485	0.00001
NM_004453.4(ETFDH):c.79C>T (p.Pro27Ser)	rs537038850	0.00001
NM_004453.4(ETFDH):c.835T>C (p.Trp279Arg)	rs754082348	0.00001
NM_004453.4(ETFDH):c.858G>A (p.Trp286Ter)	rs1235904433	0.00001
NM_004629.2(FANCG):c.787C>T (p.Gln263Ter)	rs149721361	0.00001
NM_004646.4(NPHS1):c.1048T>C (p.Ser350Pro)	rs386833863	0.00001
NM_004646.4(NPHS1):c.1096A>C (p.Ser366Arg)	rs386833864	0.00001
NM_004646.4(NPHS1):c.1099C>T (p.Arg367Cys)	rs386833865	0.00001
NM_004646.4(NPHS1):c.1481del (p.Ser494fs)	rs386833883	0.00001
NM_004646.4(NPHS1):c.1531C>T (p.Arg511Ter)	rs138852882	0.00001
NM_004646.4(NPHS1):c.1555C>T (p.Pro519Ser)	rs386833884	0.00001
NM_004646.4(NPHS1):c.1954C>T (p.Gln652Ter)	rs386833899	0.00001
NM_004646.4(NPHS1):c.2071+2T>C	rs386833901	0.00001
NM_004646.4(NPHS1):c.2131C>A (p.Arg711Ser)	rs764181464	0.00001
NM_004646.4(NPHS1):c.2417C>A (p.Ala806Asp)	rs386833912	0.00001
NM_004646.4(NPHS1):c.2596C>T (p.Arg866Ter)	rs386833920	0.00001
NM_004646.4(NPHS1):c.3233C>A (p.Ala1078Asp)	rs775829291	0.00001
NM_004646.4(NPHS1):c.532C>T (p.Gln178Ter)	rs386833951	0.00001
NM_004646.4(NPHS1):c.616C>A (p.Pro206Thr)	rs201822740	0.00001
NM_004646.4(NPHS1):c.794G>C (p.Cys265Ser)	rs748287435	0.00001
NM_004646.4(NPHS1):c.808G>T (p.Gly270Cys)	rs386833961	0.00001
NM_004937.3(CTNS):c.270A>T (p.Thr90=)	rs754247532	0.00001
NM_004937.3(CTNS):c.416C>T (p.Ser139Phe)	rs267606754	0.00001
NM_004937.3(CTNS):c.634G>A (p.Ala212Thr)	rs768600603	0.00001
NM_004937.3(CTNS):c.751A>G (p.Thr251Ala)	rs919629710	0.00001
NM_004937.3(CTNS):c.897T>C (p.Ile299=)	rs199824920	0.00001
NM_004937.3(CTNS):c.922G>A (p.Gly308Arg)	rs746307931	0.00001
NM_005476.7(GNE):c.1523T>C (p.Leu508Ser)	rs1057516798	0.00001
NM_005476.7(GNE):c.1675G>A (p.Gly559Arg)	rs762009737	0.00001
NM_005476.7(GNE):c.175C>T (p.Arg59Ter)	rs745517517	0.00001
NM_005476.7(GNE):c.1807C>T (p.Leu603Phe)	rs372732220	0.00001
NM_005476.7(GNE):c.301C>T (p.Arg101Cys)	rs148523065	0.00001
NM_005476.7(GNE):c.4G>T (p.Glu2Ter)	rs886044514	0.00001
NM_005476.7(GNE):c.529C>T (p.Arg177Cys)	rs539332585	0.00001
NM_005476.7(GNE):c.612G>A (p.Trp204Ter)	rs786204476	0.00001
NM_005476.7(GNE):c.722T>G (p.Ile241Ser)	rs759945787	0.00001
NM_005476.7(GNE):c.736C>T (p.Arg246Trp)	rs773729410	0.00001
NM_005609.4(PYGM):c.1110G>A (p.Val370=)	rs372719040	0.00001
NM_005609.4(PYGM):c.1147G>A (p.Glu383Lys)	rs757681143	0.00001
NM_005609.4(PYGM):c.1193C>T (p.Pro398Leu)	rs773204705	0.00001
NM_005609.4(PYGM):c.1239+1G>A	rs759657964	0.00001
NM_005609.4(PYGM):c.1349C>T (p.Ser450Leu)	rs756251887	0.00001
NM_005609.4(PYGM):c.1468C>T (p.Arg490Trp)	rs765612286	0.00001
NM_005609.4(PYGM):c.1469G>A (p.Arg490Gln)	rs1592410540	0.00001
NM_005609.4(PYGM):c.1518+9C>G	rs1210456408	0.00001
NM_005609.4(PYGM):c.1628A>C (p.Lys543Thr)	rs119103252	0.00001
NM_005609.4(PYGM):c.1708C>T (p.Arg570Trp)	rs377225525	0.00001
NM_005609.4(PYGM):c.1709G>A (p.Arg570Gln)	rs143550601	0.00001
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter)	rs119103255	0.00001
NM_005609.4(PYGM):c.1768+2T>G	rs747513238	0.00001
NM_005609.4(PYGM):c.1769-7T>C	rs2058357396	0.00001
NM_005609.4(PYGM):c.1769G>A (p.Arg590His)	rs115942812	0.00001
NM_005609.4(PYGM):c.1804C>T (p.Arg602Trp)	rs750195683	0.00001
NM_005609.4(PYGM):c.1827G>A (p.Lys609=)	rs119103259	0.00001
NM_005609.4(PYGM):c.1963G>A (p.Glu655Lys)	rs119103253	0.00001
NM_005609.4(PYGM):c.2111C>T (p.Ala704Val)	rs1483102315	0.00001
NM_005609.4(PYGM):c.247A>T (p.Ile83Phe)	rs761616685	0.00001
NM_005609.4(PYGM):c.347T>C (p.Leu116Pro)	rs776680924	0.00001
NM_005609.4(PYGM):c.489G>A (p.Glu163=)	rs767119000	0.00001
NM_005609.4(PYGM):c.549G>A (p.Trp183Ter)	rs1223885403	0.00001
NM_005609.4(PYGM):c.580C>T (p.Arg194Trp)	rs376581557	0.00001
NM_005609.4(PYGM):c.630C>T (p.Thr210=)	rs115141783	0.00001
NM_005609.4(PYGM):c.78_79del (p.Glu27fs)	rs755117847	0.00001
NM_005726.6(TSFM):c.53A>T (p.Tyr18Phe)	rs548510701	0.00001
NM_005957.5(MTHFR):c.1002G>A (p.Lys334=)	rs147727428	0.00001
NM_005957.5(MTHFR):c.1013T>C (p.Met338Thr)	rs368321176	0.00001
NM_005957.5(MTHFR):c.1069C>T (p.Arg357Cys)	rs779993607	0.00001
NM_005957.5(MTHFR):c.1070G>A (p.Arg357His)	rs977038830	0.00001
NM_005957.5(MTHFR):c.1263G>C (p.Trp421Cys)	rs200688214	0.00001
NM_005957.5(MTHFR):c.1748G>A (p.Trp583Ter)	rs1314085200	0.00001
NM_005957.5(MTHFR):c.1753-18G>A	rs777661576	0.00001
NM_005957.5(MTHFR):c.177G>T (p.Trp59Cys)	rs767789270	0.00001
NM_005957.5(MTHFR):c.202C>G (p.Arg68Gly)	rs763539350	0.00001
NM_005957.5(MTHFR):c.408G>A (p.Glu136=)	rs752891093	0.00001
NM_005957.5(MTHFR):c.469C>T (p.Arg157Trp)	rs776195746	0.00001
NM_005957.5(MTHFR):c.584C>T (p.Ala195Val)	rs760161369	0.00001
NM_005957.5(MTHFR):c.780+1G>A	rs786204020	0.00001
NM_005957.5(MTHFR):c.968T>C (p.Leu323Pro)	rs121434297	0.00001
NM_005957.5(MTHFR):c.971A>G (p.Asn324Ser)	rs267606887	0.00001
NM_006019.4(TCIRG1):c.1297C>T (p.Gln433Ter)	rs777785526	0.00001
NM_006019.4(TCIRG1):c.1372G>A (p.Gly458Ser)	rs200851583	0.00001
NM_006019.4(TCIRG1):c.1887+1G>A	rs1554999205	0.00001
NM_006019.4(TCIRG1):c.196+5G>A	rs1470999303	0.00001
NM_006019.4(TCIRG1):c.2014-1G>A	rs1197237618	0.00001
NM_006019.4(TCIRG1):c.630G>A (p.Thr210=)	rs1293760338	0.00001
NM_006019.4(TCIRG1):c.979C>T (p.Arg327Ter)	rs749361897	0.00001
NM_006096.4(NDRG1):c.141G>A (p.Thr47=)	rs750933446	0.00001
NM_006096.4(NDRG1):c.42G>A (p.Lys14=)	rs753261868	0.00001
NM_006096.4(NDRG1):c.591G>A (p.Gly197=)	rs377257830	0.00001
NM_006096.4(NDRG1):c.766C>T (p.Leu256=)	rs898573925	0.00001
NM_006118.4(HAX1):c.228C>T (p.His76=)	rs1684867511	0.00001
NM_006118.4(HAX1):c.337G>T (p.Glu113Ter)	rs374758765	0.00001
NM_006118.4(HAX1):c.407del (p.His136fs)	rs748595772	0.00001
NM_006118.4(HAX1):c.636T>C (p.Ser212=)	rs146312637	0.00001
NM_006118.4(HAX1):c.663+1G>A	rs41313932	0.00001
NM_006261.5(PROP1):c.334C>T (p.Arg112Ter)	rs766673446	0.00001
NM_006432.5(NPC2):c.358C>T (p.Pro120Ser)	rs104894458	0.00001
NM_006493.4(CLN5):c.188G>A (p.Arg63His)	rs104894386	0.00001
NM_006493.4(CLN5):c.974A>G (p.Tyr325Cys)	rs148862100	0.00001
NM_006623.4(PHGDH):c.1030C>T (p.Arg344Ter)	rs769256568	0.00001
NM_006623.4(PHGDH):c.1273G>A (p.Val425Met)	rs121907988	0.00001
NM_006623.4(PHGDH):c.129G>A (p.Ala43=)	rs587623477	0.00001
NM_006623.4(PHGDH):c.139-6C>T	rs1351164206	0.00001
NM_006623.4(PHGDH):c.1416C>T (p.Thr472=)	rs1652285057	0.00001
NM_006623.4(PHGDH):c.357-1G>A	rs766427173	0.00001
NM_006623.4(PHGDH):c.487C>T (p.Arg163Trp)	rs772067625	0.00001
NM_006623.4(PHGDH):c.571C>T (p.Leu191=)	rs988162080	0.00001
NM_006623.4(PHGDH):c.638C>T (p.Thr213Met)	rs772598618	0.00001
NM_006623.4(PHGDH):c.707G>A (p.Arg236His)	rs776544484	0.00001
NM_006623.4(PHGDH):c.889G>T (p.Glu297Ter)	rs1489498331	0.00001
NM_007259.5(VPS45):c.1018C>T (p.Arg340Ter)	rs782504130	0.00001
NM_007259.5(VPS45):c.201G>A (p.Lys67=)	rs782546296	0.00001
NM_007259.5(VPS45):c.576+7C>T	rs1655444542	0.00001
NM_007259.5(VPS45):c.712G>A (p.Glu238Lys)	rs782269909	0.00001
NM_007259.5(VPS45):c.765C>T (p.Ile255=)	rs1329207920	0.00001
NM_012144.4(DNAI1):c.1116C>T (p.Asn372=)	rs2492094878	0.00001
NM_012144.4(DNAI1):c.1155C>T (p.Gly385=)	rs549401132	0.00001
NM_012144.4(DNAI1):c.1395C>T (p.Leu465=)	rs764446899	0.00001
NM_012144.4(DNAI1):c.139del (p.Ala47fs)	rs1824446213	0.00001
NM_012144.4(DNAI1):c.1530del (p.Asp509_Tyr510insTer)	rs751920647	0.00001
NM_012144.4(DNAI1):c.1569+1G>T	rs1465404366	0.00001
NM_012144.4(DNAI1):c.1665C>T (p.Val555=)	rs147469181	0.00001
NM_012144.4(DNAI1):c.1941C>T (p.Gly647=)	rs1022057422	0.00001
NM_012144.4(DNAI1):c.272dup (p.Tyr91Ter)	rs1416324075	0.00001
NM_012144.4(DNAI1):c.902-8T>C	rs755259202	0.00001
NM_012203.2(GRHPR):c.102G>A (p.Trp34Ter)	rs180177304	0.00001
NM_012203.2(GRHPR):c.337G>A (p.Glu113Lys)	rs180177307	0.00001
NM_012203.2(GRHPR):c.404+5G>A	rs757796926	0.00001
NM_012203.2(GRHPR):c.454dup (p.Thr152fs)	rs771019056	0.00001
NM_012203.2(GRHPR):c.904C>T (p.Arg302Cys)	rs180177322	0.00001
NM_012243.3(SLC35A3):c.211C>T (p.Arg71Ter)	rs778502240	0.00001
NM_012243.3(SLC35A3):c.540C>T (p.Leu180=)	rs1031141712	0.00001
NM_012243.3(SLC35A3):c.606A>G (p.Gln202=)	rs370227291	0.00001
NM_012243.3(SLC35A3):c.645A>T (p.Gly215=)	rs2101423658	0.00001
NM_012434.5(SLC17A5):c.1111+1G>A	rs777862172	0.00001
NM_012434.5(SLC17A5):c.116G>A (p.Arg39His)	rs769235753	0.00001
NM_012434.5(SLC17A5):c.1259+1G>A	rs146095590	0.00001
NM_012434.5(SLC17A5):c.1355_1356insAA (p.Val453fs)	rs1234745577	0.00001
NM_012434.5(SLC17A5):c.1A>C (p.Met1Leu)	rs1304456183	0.00001
NM_012434.5(SLC17A5):c.500T>C (p.Leu167Pro)	rs587779410	0.00001
NM_012434.5(SLC17A5):c.667dup (p.Tyr223fs)	rs1472109408	0.00001
NM_012434.5(SLC17A5):c.795_796insTT (p.Ile266fs)	rs1768947811	0.00001
NM_012434.5(SLC17A5):c.819+1G>A	rs1057517028	0.00001
NM_012434.5(SLC17A5):c.95-1G>C	rs386833995	0.00001
NM_013339.4(ALG6):c.226dup (p.Thr76fs)	rs1644468733	0.00001
NM_013339.4(ALG6):c.250G>A (p.Ala84Thr)	rs762643273	0.00001
NM_013339.4(ALG6):c.366G>C (p.Leu122=)	rs1368717618	0.00001
NM_013339.4(ALG6):c.680+1G>A	rs1253289234	0.00001
NM_013339.4(ALG6):c.680+2T>G	rs868768232	0.00001
NM_013339.4(ALG6):c.680G>A (p.Gly227Glu)	rs372079206	0.00001
NM_013339.4(ALG6):c.735C>T (p.Cys245=)	rs1193951173	0.00001
NM_014049.5(ACAD9):c.1062C>T (p.Tyr354=)	rs886057957	0.00001
NM_014049.5(ACAD9):c.1168G>A (p.Ala390Thr)	rs763004980	0.00001
NM_014049.5(ACAD9):c.1237G>A (p.Glu413Lys)	rs149753643	0.00001
NM_014049.5(ACAD9):c.1398C>T (p.Thr466=)	rs772732061	0.00001
NM_014049.5(ACAD9):c.1594C>T (p.Arg532Trp)	rs377022708	0.00001
NM_014049.5(ACAD9):c.1646G>A (p.Arg549Gln)	rs750899715	0.00001
NM_014049.5(ACAD9):c.1A>T (p.Met1Leu)	rs773949927	0.00001
NM_014049.5(ACAD9):c.284A>C (p.Asp95Ala)	rs761565265	0.00001
NM_014049.5(ACAD9):c.509C>T (p.Ala170Val)	rs762521317	0.00001
NM_014140.4(SMARCAL1):c.1191del (p.Thr399fs)	rs956223874	0.00001
NM_014140.4(SMARCAL1):c.1360C>T (p.Leu454=)	rs753714268	0.00001
NM_014140.4(SMARCAL1):c.1439C>T (p.Pro480Leu)	rs758367100	0.00001
NM_014140.4(SMARCAL1):c.1756C>T (p.Arg586Trp)	rs119473038	0.00001
NM_014140.4(SMARCAL1):c.1931G>A (p.Arg644Gln)	rs140515579	0.00001
NM_014140.4(SMARCAL1):c.1933C>T (p.Arg645Cys)	rs119473037	0.00001
NM_014140.4(SMARCAL1):c.1934G>A (p.Arg645His)	rs1281345070	0.00001
NM_014140.4(SMARCAL1):c.2290C>T (p.Arg764Trp)	rs1480919035	0.00001
NM_014140.4(SMARCAL1):c.2520C>T (p.Asp840=)	rs1325007410	0.00001
NM_014140.4(SMARCAL1):c.2529-7C>G	rs758029017	0.00001
NM_014140.4(SMARCAL1):c.780A>G (p.Ala260=)	rs1288231534	0.00001
NM_014244.5(ADAMTS2):c.1278C>T (p.Gly426=)	rs746088783	0.00001
NM_014244.5(ADAMTS2):c.1413C>T (p.Phe471=)	rs751565994	0.00001
NM_014244.5(ADAMTS2):c.3544C>T (p.Arg1182Ter)	rs367553801	0.00001
NM_014244.5(ADAMTS2):c.661C>G (p.Leu221Val)	rs756807336	0.00001
NM_014244.5(ADAMTS2):c.688+9A>G	rs1347345675	0.00001
NM_014244.5(ADAMTS2):c.996C>T (p.Ile332=)	rs767485549	0.00001
NM_014249.4(NR2E3):c.202A>G (p.Ser68Gly)	rs763764130	0.00001
NM_014249.4(NR2E3):c.310C>T (p.Arg104Trp)	rs990307718	0.00001
NM_014249.4(NR2E3):c.311G>A (p.Arg104Gln)	rs766096417	0.00001
NM_014249.4(NR2E3):c.864T>A (p.Gly288=)	rs537802684	0.00001
NM_014252.4(SLC25A15):c.225C>T (p.Ile75=)	rs765380976	0.00001
NM_014252.4(SLC25A15):c.22C>T (p.Gln8Ter)	rs1448259297	0.00001
NM_014252.4(SLC25A15):c.44C>T (p.Ala15Val)	rs202247806	0.00001
NM_014252.4(SLC25A15):c.514G>T (p.Gly172Ter)	rs1480063127	0.00001
NM_014252.4(SLC25A15):c.623-5del	rs1190124929	0.00001
NM_014252.4(SLC25A15):c.79G>A (p.Gly27Arg)	rs104894430	0.00001
NM_014252.4(SLC25A15):c.824G>A (p.Arg275Gln)	rs104894431	0.00001
NM_014297.5(ETHE1):c.187C>T (p.Gln63Ter)	rs368778231	0.00001
NM_014297.5(ETHE1):c.375+5G>A	rs769259233	0.00001
NM_014297.5(ETHE1):c.388del (p.Arg130fs)	rs1236038385	0.00001
NM_014297.5(ETHE1):c.489G>A (p.Arg163=)	rs533076307	0.00001
NM_014297.5(ETHE1):c.505+1G>A	rs935855792	0.00001
NM_014297.5(ETHE1):c.79C>T (p.Gln27Ter)	rs749803238	0.00001
NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter)	rs1057517250	0.00001
NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter)	rs780247476	0.00001
NM_014363.6(SACS):c.10907G>A (p.Arg3636Gln)	rs281865119	0.00001
NM_014363.6(SACS):c.11274_11276del (p.Ile3758_Thr3759delinsMet)	rs1454517884	0.00001
NM_014363.6(SACS):c.1201C>T (p.Arg401Ter)	rs769212398	0.00001
NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter)	rs762947018	0.00001
NM_014363.6(SACS):c.13284C>T (p.Tyr4428=)	rs753277514	0.00001
NM_014363.6(SACS):c.1728C>T (p.Tyr576=)	rs750748828	0.00001
NM_014363.6(SACS):c.4232T>G (p.Leu1411Ter)	rs867249938	0.00001
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn)	rs1160357920	0.00001
NM_014363.6(SACS):c.562G>A (p.Gly188Arg)	rs780184251	0.00001
NM_014363.6(SACS):c.7205_7206del (p.Leu2402fs)	rs773182375	0.00001
NM_014363.6(SACS):c.7273C>T (p.Arg2425Ter)	rs145766983	0.00001
NM_014363.6(SACS):c.8108G>A (p.Arg2703His)	rs750181262	0.00001
NM_014363.6(SACS):c.8132C>T (p.Ser2711Leu)	rs1213203489	0.00001
NM_014363.6(SACS):c.814C>T (p.Arg272Cys)	rs374128662	0.00001
NM_014844.5(TECPR2):c.1180A>C (p.Arg394=)	rs549744502	0.00001
NM_014844.5(TECPR2):c.1318_1319del (p.Leu440fs)	rs765874018	0.00001
NM_014844.5(TECPR2):c.2700C>T (p.Ser900=)	rs545614481	0.00001
NM_014844.5(TECPR2):c.2967G>A (p.Thr989=)	rs1345090533	0.00001
NM_014844.5(TECPR2):c.3399G>A (p.Thr1133=)	rs765318084	0.00001
NM_014844.5(TECPR2):c.3416del (p.Leu1139fs)	rs751970061	0.00001
NM_014844.5(TECPR2):c.351T>G (p.Leu117=)	rs771585977	0.00001
NM_014844.5(TECPR2):c.879A>G (p.Ser293=)	rs770891190	0.00001
NM_015166.4(MLC1):c.136del (p.Cys46fs)	rs1057516766	0.00001
NM_015166.4(MLC1):c.177+1G>T	rs1374593138	0.00001
NM_015166.4(MLC1):c.178-10T>A	rs80358243	0.00001
NM_015166.4(MLC1):c.206C>T (p.Ser69Leu)	rs281875309	0.00001
NM_015166.4(MLC1):c.278C>T (p.Ser93Leu)	rs80358245	0.00001
NM_015166.4(MLC1):c.353C>T (p.Thr118Met)	rs281875316	0.00001
NM_015166.4(MLC1):c.714+1G>A	rs761620701	0.00001
NM_015166.4(MLC1):c.881C>T (p.Pro294Leu)	rs1050220787	0.00001
NM_015166.4(MLC1):c.882G>A (p.Pro294=)	rs200163312	0.00001
NM_015506.3(MMACHC):c.282C>T (p.Leu94=)	rs751229877	0.00001
NM_015506.3(MMACHC):c.349G>C (p.Ala117Pro)	rs752205161	0.00001
NM_015506.3(MMACHC):c.384del (p.Tyr129fs)	rs1347498294	0.00001
NM_015506.3(MMACHC):c.388T>C (p.Tyr130His)	rs372670428	0.00001
NM_015506.3(MMACHC):c.430-2A>G	rs376964010	0.00001
NM_015506.3(MMACHC):c.434dup (p.Ser146fs)	rs768978351	0.00001
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp)	rs538023671	0.00001
NM_015506.3(MMACHC):c.640dup (p.Arg214fs)	rs1643683813	0.00001
NM_015506.3(MMACHC):c.687A>G (p.Gln229=)	rs369621922	0.00001
NM_015702.3(MMADHC):c.154+1G>A	rs1385597423	0.00001
NM_016277.5(RAB23):c.218C>T (p.Ala73Val)	rs556931606	0.00001
NM_016277.5(RAB23):c.82C>T (p.Arg28Ter)	rs765443042	0.00001
NM_016955.4(SEPSECS):c.715G>A (p.Ala239Thr)	rs267607035	0.00001
NM_017739.4(POMGNT1):c.1738C>T (p.Arg580Ter)	rs386834018	0.00001
NM_017739.4(POMGNT1):c.385C>T (p.Arg129Trp)	rs375431575	0.00001
NM_017739.4(POMGNT1):c.643C>T (p.Arg215Ter)	rs386834034	0.00001
NM_017739.4(POMGNT1):c.931C>T (p.Arg311Ter)	rs386834039	0.00001
NM_017777.4(MKS1):c.472C>T (p.Arg158Ter)	rs386834050	0.00001
NM_017777.4(MKS1):c.515+1G>A	rs201933838	0.00001
NM_017777.4(MKS1):c.51_55dup (p.Asp19fs)	rs386834051	0.00001
NM_017777.4(MKS1):c.844C>T (p.Arg282Ter)	rs797045706	0.00001
NM_017882.3(CLN6):c.184C>T (p.Arg62Cys)	rs1451777867	0.00001
NM_017882.3(CLN6):c.308G>A (p.Arg103Gln)	rs154774634	0.00001
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys)	rs746753722	0.00001
NM_017882.3(CLN6):c.768C>G (p.Asp256Glu)	rs760271120	0.00001
NM_017882.3(CLN6):c.896C>T (p.Pro299Leu)	rs758921701	0.00001
NM_017890.5(VPS13B):c.4186C>T (p.Gln1396Ter)	rs559590419	0.00001
NM_017890.5(VPS13B):c.4238T>A (p.Leu1413Ter)	rs765998879	0.00001
NM_017890.5(VPS13B):c.4246C>T (p.Arg1416Ter)	rs145741622	0.00001
NM_018941.4(CLN8):c.1A>G (p.Met1Val)	rs143730802	0.00001
NM_018941.4(CLN8):c.256C>T (p.Leu86=)	rs755248868	0.00001
NM_018941.4(CLN8):c.473A>G (p.Tyr158Cys)	rs386834130	0.00001
NM_018941.4(CLN8):c.610C>T (p.Arg204Cys)	rs104894060	0.00001
NM_018941.4(CLN8):c.611G>A (p.Arg204His)	rs386834134	0.00001
NM_018941.4(CLN8):c.709G>A (p.Gly237Arg)	rs746645358	0.00001
NM_020166.5(MCCC1):c.1254T>C (p.Thr418=)	rs750015240	0.00001
NM_020166.5(MCCC1):c.1281C>T (p.Ser427=)	rs763713221	0.00001
NM_020166.5(MCCC1):c.1315G>A (p.Val439Met)	rs398124352	0.00001
NM_020166.5(MCCC1):c.1330C>T (p.Arg444Cys)	rs375996272	0.00001
NM_020166.5(MCCC1):c.1554G>A (p.Lys518=)	rs563586657	0.00001
NM_020166.5(MCCC1):c.1682-3A>G	rs760180709	0.00001
NM_020166.5(MCCC1):c.2079del (p.Thr693_Val694insTer)	rs119103217	0.00001
NM_020166.5(MCCC1):c.539G>T (p.Gly180Val)	rs748201122	0.00001
NM_020166.5(MCCC1):c.694C>T (p.Arg232Trp)	rs727504004	0.00001
NM_020166.5(MCCC1):c.863A>G (p.Glu288Gly)	rs746500530	0.00001
NM_020320.5(RARS2):c.1369G>A (p.Gly457Arg)	rs758894784	0.00001
NM_020320.5(RARS2):c.1582_1583dup (p.Leu528fs)	rs863224183	0.00001
NM_020320.5(RARS2):c.1651-2A>G	rs2482925700	0.00001
NM_020320.5(RARS2):c.1679G>A (p.Arg560His)	rs756502974	0.00001
NM_020320.5(RARS2):c.297+2T>G	rs574343583	0.00001
NM_020320.5(RARS2):c.685C>T (p.Arg229Ter)	rs769473411	0.00001
NM_020320.5(RARS2):c.879-1G>C	rs1428801547	0.00001
NM_020533.3(MCOLN1):c.1074C>T (p.Leu358=)	rs535003448	0.00001
NM_020533.3(MCOLN1):c.1207C>T (p.Arg403Cys)	rs121908374	0.00001
NM_020533.3(MCOLN1):c.405+1G>A	rs148748724	0.00001
NM_020533.3(MCOLN1):c.429A>G (p.Ser143=)	rs777036069	0.00001
NM_020533.3(MCOLN1):c.621C>T (p.Asp207=)	rs774271399	0.00001
NM_020533.3(MCOLN1):c.666G>A (p.Thr222=)	rs757935075	0.00001
NM_020533.3(MCOLN1):c.681-19A>C	rs768736321	0.00001
NM_020533.3(MCOLN1):c.694A>C (p.Thr232Pro)	rs767122713	0.00001
NM_020533.3(MCOLN1):c.964C>T (p.Arg322Ter)	rs121908371	0.00001
NM_020533.3(MCOLN1):c.984+1G>A	rs767950930	0.00001
NM_022132.5(MCCC2):c.100C>T (p.Gln34Ter)	rs1413464990	0.00001
NM_022132.5(MCCC2):c.1064T>A (p.Leu355Ter)	rs751393852	0.00001
NM_022132.5(MCCC2):c.1300G>C (p.Val434Leu)	rs758506791	0.00001
NM_022132.5(MCCC2):c.1371T>A (p.Tyr457Ter)	rs764213364	0.00001
NM_022132.5(MCCC2):c.1412_1413del (p.Ser471fs)	rs780304038	0.00001
NM_022132.5(MCCC2):c.1441G>A (p.Val481Met)	rs767575019	0.00001
NM_022132.5(MCCC2):c.1488G>C (p.Gln496His)	rs745367639	0.00001
NM_022132.5(MCCC2):c.175C>T (p.Arg59Ter)	rs760881963	0.00001
NM_022132.5(MCCC2):c.230C>G (p.Ser77Ter)	rs1304896406	0.00001
NM_022132.5(MCCC2):c.330C>T (p.Asp110=)	rs201872484	0.00001
NM_022132.5(MCCC2):c.464G>A (p.Arg155Gln)	rs119103220	0.00001
NM_022132.5(MCCC2):c.478G>A (p.Ala160Thr)	rs727504009	0.00001
NM_022132.5(MCCC2):c.499T>C (p.Cys167Arg)	rs119103222	0.00001
NM_022132.5(MCCC2):c.538C>T (p.Arg180Ter)	rs780011606	0.00001
NM_022132.5(MCCC2):c.562C>T (p.Arg188Ter)	rs774180632	0.00001
NM_022132.5(MCCC2):c.688A>G (p.Asn230Asp)	rs766753795	0.00001
NM_022132.5(MCCC2):c.804-10T>C	rs1295275733	0.00001
NM_022132.5(MCCC2):c.838G>T (p.Asp280Tyr)	rs119103226	0.00001
NM_022132.5(MCCC2):c.994C>T (p.Arg332Ter)	rs727504010	0.00001
NM_023036.6(DNAI2):c.1414C>T (p.Gln472Ter)	rs756868374	0.00001
NM_023036.6(DNAI2):c.1429dup (p.Thr477fs)	rs1567876609	0.00001
NM_023036.6(DNAI2):c.1494+1G>A	rs397515565	0.00001
NM_023036.6(DNAI2):c.421G>T (p.Glu141Ter)	rs772133192	0.00001
NM_023036.6(DNAI2):c.718C>T (p.Gln240Ter)	rs780116486	0.00001
NM_023036.6(DNAI2):c.725-5A>G	rs1262236006	0.00001
NM_023036.6(DNAI2):c.740G>A (p.Arg247Gln)	rs755060592	0.00001
NM_024120.5(NDUFAF5):c.749G>T (p.Gly250Val)	rs757043077	0.00001
NM_024301.5(FKRP):c.544T>C (p.Tyr182His)	rs753390261	0.00001
NM_024301.5(FKRP):c.582G>A (p.Leu194=)	rs771223960	0.00001
NM_024301.5(FKRP):c.854A>C (p.Glu285Ala)	rs963039919	0.00001
NM_024301.5(FKRP):c.919T>A (p.Tyr307Asn)	rs104894692	0.00001
NM_024312.5(GNPTAB):c.2665T>C (p.Leu889=)	rs139215843	0.00001
NM_024312.5(GNPTAB):c.2956C>T (p.Arg986Cys)	rs769587233	0.00001
NM_024649.5(BBS1):c.1147C>T (p.Arg383Trp)	rs143495423	0.00001
NM_024649.5(BBS1):c.1318C>T (p.Arg440Ter)	rs1014835928	0.00001
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro)	rs121917778	0.00001
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn)	rs200688985	0.00001
NM_024649.5(BBS1):c.48-2A>C	rs764245266	0.00001
NM_024685.4(BBS10):c.1184dup (p.His395fs)	rs786204573	0.00001
NM_024685.4(BBS10):c.1241T>C (p.Leu414Ser)	rs786204575	0.00001
NM_024685.4(BBS10):c.1495G>T (p.Glu499Ter)	rs898539189	0.00001
NM_024685.4(BBS10):c.1684T>C (p.Leu562=)	rs111773727	0.00001
NM_024685.4(BBS10):c.539G>A (p.Gly180Glu)	rs1555202697	0.00001
NM_024685.4(BBS10):c.850C>T (p.Gln284Ter)	rs758732081	0.00001
NM_024996.7(GFM1):c.409G>A (p.Val137Met)	rs767325554	0.00001
NM_024996.7(GFM1):c.688G>A (p.Gly230Ser)	rs774456344	0.00001
NM_024996.7(GFM1):c.700C>T (p.Arg234Ter)	rs863224032	0.00001
NM_024996.7(GFM1):c.748C>T (p.Arg250Trp)	rs139430866	0.00001
NM_025114.4(CEP290):c.4705-1G>T	rs777464278	0.00001
NM_031885.5(BBS2):c.1438C>T (p.Arg480Ter)	rs778090540	0.00001
NM_031885.5(BBS2):c.1814C>G (p.Ser605Ter)	rs201063733	0.00001
NM_031885.5(BBS2):c.1864C>T (p.Arg622Ter)	rs201196733	0.00001
NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter)	rs567573386	0.00001
NM_031885.5(BBS2):c.224T>G (p.Val75Gly)	rs121908174	0.00001
NM_031885.5(BBS2):c.241G>T (p.Gly81Cys)	rs750506474	0.00001
NM_031885.5(BBS2):c.327G>A (p.Ser109=)	rs770497817	0.00001
NM_031885.5(BBS2):c.471G>A (p.Thr157=)	rs749983428	0.00001
NM_031885.5(BBS2):c.563del (p.Ile188fs)	rs1367927635	0.00001
NM_031885.5(BBS2):c.653G>A (p.Gly218Asp)	rs1375309270	0.00001
NM_031885.5(BBS2):c.717+1G>A	rs1047075022	0.00001
NM_031885.5(BBS2):c.98C>A (p.Ala33Asp)	rs797045155	0.00001
NM_032520.5(GNPTG):c.233+1G>A	rs376679416	0.00001
NM_032520.5(GNPTG):c.29T>A (p.Leu10Ter)	rs1555450681	0.00001
NM_032520.5(GNPTG):c.316G>A (p.Gly106Ser)	rs137852885	0.00001
NM_033159.4(HYAL1):c.546G>A (p.Trp182Ter)	rs1553713200	0.00001
NM_033159.4(HYAL1):c.586_598del (p.Arg196fs)	rs1702201097	0.00001
NM_033305.3(VPS13A):c.6700C>T (p.Arg2234Ter)	rs748922513	0.00001
NM_033305.3(VPS13A):c.7867C>T (p.Arg2623Ter)	rs1055609567	0.00001
NM_033305.3(VPS13A):c.8356A>C (p.Arg2786=)	rs752608628	0.00001
NM_033305.3(VPS13A):c.927A>G (p.Ala309=)	rs749004984	0.00001
NM_033380.3(COL4A5):c.2362C>T (p.Arg788Cys)	rs762935451	0.00001
NM_033380.3(COL4A5):c.3508G>A (p.Gly1170Ser)	rs104886237	0.00001
NM_033380.3(COL4A5):c.779A>G (p.Gln260Arg)	rs372889859	0.00001
NM_052845.4(MMAB):c.349-10C>T	rs896742047	0.00001
NM_052845.4(MMAB):c.398C>T (p.Ser133Phe)	rs749936057	0.00001
NM_052845.4(MMAB):c.516G>T (p.Leu172=)	rs914000089	0.00001
NM_052845.4(MMAB):c.522G>A (p.Ser174=)	rs545625368	0.00001
NM_052845.4(MMAB):c.568C>T (p.Arg190Cys)	rs398124434	0.00001
NM_052845.4(MMAB):c.569G>A (p.Arg190His)	rs756414548	0.00001
NM_052845.4(MMAB):c.576C>T (p.Ala192=)	rs757562796	0.00001
NM_052845.4(MMAB):c.577G>A (p.Glu193Lys)	rs749758687	0.00001
NM_052845.4(MMAB):c.584G>A (p.Arg195His)	rs756195708	0.00001
NM_052845.4(MMAB):c.625G>A (p.Val209Met)	rs200903284	0.00001
NM_052845.4(MMAB):c.99G>A (p.Gln33=)	rs749127574	0.00001
NM_054012.4(ASS1):c.1030C>T (p.Arg344Ter)	rs786204537	0.00001
NM_054012.4(ASS1):c.1088G>A (p.Arg363Gln)	rs771937610	0.00001
NM_054012.4(ASS1):c.174+1G>A	rs748264993	0.00001
NM_054012.4(ASS1):c.174+1G>T	rs748264993	0.00001
NM_054012.4(ASS1):c.256C>T (p.Arg86Cys)	rs121908644	0.00001
NM_054012.4(ASS1):c.349G>A (p.Gly117Ser)	rs770944877	0.00001
NM_054012.4(ASS1):c.379C>T (p.Arg127Trp)	rs771794639	0.00001
NM_054012.4(ASS1):c.40G>A (p.Gly14Ser)	rs121908636	0.00001
NM_054012.4(ASS1):c.496-2A>G	rs398123130	0.00001
NM_054012.4(ASS1):c.53C>T (p.Ser18Leu)	rs121908643	0.00001
NM_054012.4(ASS1):c.577G>A (p.Gly193Arg)	rs1311437424	0.00001
NM_054012.4(ASS1):c.647C>A (p.Ala216Asp)	rs1043964127	0.00001
NM_054012.4(ASS1):c.689-2A>C	rs374586230	0.00001
NM_054012.4(ASS1):c.773+49C>T	rs763389916	0.00001
NM_054012.4(ASS1):c.793C>T (p.Arg265Cys)	rs148918985	0.00001
NM_054012.4(ASS1):c.794G>A (p.Arg265His)	rs398123131	0.00001
NM_054012.4(ASS1):c.835C>T (p.Arg279Ter)	rs121908645	0.00001
NM_054012.4(ASS1):c.838+1G>T	rs750214431	0.00001
NM_054012.4(ASS1):c.928A>C (p.Lys310Gln)	rs121908648	0.00001
NM_054012.4(ASS1):c.970+5G>A	rs372128852	0.00001
NM_057176.3(BSND):c.28G>A (p.Gly10Ser)	rs74315287	0.00001
NM_133259.4(LRPPRC):c.1582+7A>G	rs863225446	0.00001
NM_138413.4(HOGA1):c.123del (p.Pro41_Val42insTer)	rs1419840309	0.00001
NM_138413.4(HOGA1):c.209G>C (p.Arg70Pro)	rs267606763	0.00001
NM_138413.4(HOGA1):c.221T>G (p.Val74Gly)	rs796052084	0.00001
NM_138413.4(HOGA1):c.294G>A (p.Gln98=)	rs777208958	0.00001
NM_138413.4(HOGA1):c.875T>C (p.Met292Thr)	rs796052087	0.00001
NM_138413.4(HOGA1):c.973G>A (p.Gly325Ser)	rs777046879	0.00001
NM_138694.4(PKHD1):c.10774C>T (p.Gln3592Ter)	rs1454977903	0.00001
NM_138694.4(PKHD1):c.10986T>C (p.Ile3662=)	rs1772384993	0.00001
NM_138694.4(PKHD1):c.11524C>T (p.Arg3842Ter)	rs746471701	0.00001
NM_138694.4(PKHD1):c.11740C>T (p.Arg3914Ter)	rs761704401	0.00001
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter)	rs144193508	0.00001
NM_138694.4(PKHD1):c.1409G>T (p.Gly470Val)	rs776845008	0.00001
NM_138694.4(PKHD1):c.1458C>A (p.Tyr486Ter)	rs786204749	0.00001
NM_138694.4(PKHD1):c.1480C>T (p.Arg494Ter)	rs754392766	0.00001
NM_138694.4(PKHD1):c.1510C>T (p.Gln504Ter)	rs759322460	0.00001
NM_138694.4(PKHD1):c.1694-10C>G	rs745911880	0.00001
NM_138694.4(PKHD1):c.1748G>A (p.Cys583Tyr)	rs369292828	0.00001
NM_138694.4(PKHD1):c.1929C>A (p.Thr643=)	rs775144938	0.00001
NM_138694.4(PKHD1):c.192C>T (p.Asn64=)	rs148089143	0.00001
NM_138694.4(PKHD1):c.1964+1G>T	rs1385712943	0.00001
NM_138694.4(PKHD1):c.2141-4C>G	rs1042054004	0.00001
NM_138694.4(PKHD1):c.2171C>G (p.Pro724Arg)	rs1229139298	0.00001
NM_138694.4(PKHD1):c.2180A>G (p.Asn727Ser)	rs727504090	0.00001
NM_138694.4(PKHD1):c.2279G>A (p.Arg760His)	rs745770404	0.00001
NM_138694.4(PKHD1):c.2310dup (p.Ser771fs)	rs767737392	0.00001
NM_138694.4(PKHD1):c.2344C>T (p.Gln782Ter)	rs371928571	0.00001
NM_138694.4(PKHD1):c.23T>C (p.Leu8Pro)	rs750588859	0.00001
NM_138694.4(PKHD1):c.2638C>T (p.Arg880Cys)	rs752646435	0.00001
NM_138694.4(PKHD1):c.2697T>A (p.Thr899=)	rs1562217633	0.00001
NM_138694.4(PKHD1):c.2813del (p.Tyr938fs)	rs1057517394	0.00001
NM_138694.4(PKHD1):c.2864T>G (p.Phe955Cys)	rs777158800	0.00001
NM_138694.4(PKHD1):c.2936C>T (p.Thr979Ile)	rs747895516	0.00001
NM_138694.4(PKHD1):c.3462A>G (p.Thr1154=)	rs758231968	0.00001
NM_138694.4(PKHD1):c.3528dup (p.Ser1177fs)	rs797044713	0.00001
NM_138694.4(PKHD1):c.3747T>G (p.Cys1249Trp)	rs748540413	0.00001
NM_138694.4(PKHD1):c.414C>T (p.Ile138=)	rs368595925	0.00001
NM_138694.4(PKHD1):c.428A>G (p.Tyr143Cys)	rs141093030	0.00001
NM_138694.4(PKHD1):c.4292G>A (p.Cys1431Tyr)	rs753307105	0.00001
NM_138694.4(PKHD1):c.4403T>C (p.Leu1468Pro)	rs140331370	0.00001
NM_138694.4(PKHD1):c.449-7C>T	rs1405707219	0.00001
NM_138694.4(PKHD1):c.470G>A (p.Gly157Asp)	rs1278235097	0.00001
NM_138694.4(PKHD1):c.4838G>A (p.Cys1613Tyr)	rs375437755	0.00001
NM_138694.4(PKHD1):c.5060T>C (p.Ile1687Thr)	rs794727566	0.00001
NM_138694.4(PKHD1):c.5174G>C (p.Trp1725Ser)	rs761046498	0.00001
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met)	rs137852946	0.00001
NM_138694.4(PKHD1):c.534G>A (p.Val178=)	rs1226545035	0.00001
NM_138694.4(PKHD1):c.5751+3A>G	rs1581726525	0.00001
NM_138694.4(PKHD1):c.5767C>T (p.Gln1923Ter)	rs1313206550	0.00001
NM_138694.4(PKHD1):c.5909-46_5943del	rs2127769312	0.00001
NM_138694.4(PKHD1):c.603-2A>G	rs757521428	0.00001
NM_138694.4(PKHD1):c.6054C>T (p.Tyr2018=)	rs774944622	0.00001
NM_138694.4(PKHD1):c.6499C>A (p.Gln2167Lys)	rs368263958	0.00001
NM_138694.4(PKHD1):c.667G>A (p.Gly223Ser)	rs749454235	0.00001
NM_138694.4(PKHD1):c.6808+1G>T	rs1217968843	0.00001
NM_138694.4(PKHD1):c.707+1G>A	rs748365248	0.00001
NM_138694.4(PKHD1):c.7194G>A (p.Trp2398Ter)	rs794727680	0.00001
NM_138694.4(PKHD1):c.7280T>C (p.Ile2427Thr)	rs398124492	0.00001
NM_138694.4(PKHD1):c.7284C>T (p.Asp2428=)	rs200807210	0.00001
NM_138694.4(PKHD1):c.7641A>G (p.Ser2547=)	rs771563591	0.00001
NM_138694.4(PKHD1):c.7717C>T (p.Arg2573Cys)	rs752994816	0.00001
NM_138694.4(PKHD1):c.7872A>G (p.Ser2624=)	rs1446607271	0.00001
NM_138694.4(PKHD1):c.798A>C (p.Pro266=)	rs752452008	0.00001
NM_138694.4(PKHD1):c.8068T>C (p.Trp2690Arg)	rs886061616	0.00001
NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu)	rs747322128	0.00001
NM_138694.4(PKHD1):c.8555-2A>C	rs1020621286	0.00001
NM_138694.4(PKHD1):c.8629del (p.Ser2877fs)	rs779168950	0.00001
NM_138694.4(PKHD1):c.8824C>T (p.Arg2942Ter)	rs398124500	0.00001
NM_138694.4(PKHD1):c.8847G>A (p.Glu2949=)	rs1340211741	0.00001
NM_138694.4(PKHD1):c.8935C>T (p.Arg2979Ter)	rs765020336	0.00001
NM_138694.4(PKHD1):c.9296C>A (p.Ser3099Ter)	rs757946548	0.00001
NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter)	rs786204688	0.00001
NM_138694.4(PKHD1):c.9619G>A (p.Ala3207Thr)	rs1242089464	0.00001
NM_138694.4(PKHD1):c.977-1G>A	rs1808864196	0.00001
NM_138694.4(PKHD1):c.977G>T (p.Gly326Val)	rs778329699	0.00001
NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys)	rs121908285	0.00001
NM_152419.3(HGSNAT):c.1411G>A (p.Glu471Lys)	rs753355844	0.00001
NM_152419.3(HGSNAT):c.1445T>A (p.Met482Lys)	rs121908284	0.00001
NM_152419.3(HGSNAT):c.1464+1G>A	rs398124545	0.00001
NM_152419.3(HGSNAT):c.852-2A>C	rs755710040	0.00001
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs)	rs386834055	0.00001
NM_152564.5(VPS13B):c.10776G>A (p.Ser3592=)	rs547516730	0.00001
NM_152564.5(VPS13B):c.10977G>A (p.Arg3659=)	rs1374692917	0.00001
NM_152564.5(VPS13B):c.11040C>T (p.Ser3680=)	rs199748413	0.00001
NM_152564.5(VPS13B):c.11070C>T (p.Leu3690=)	rs185477101	0.00001
NM_152564.5(VPS13B):c.11202C>T (p.Gly3734=)	rs766658666	0.00001
NM_152564.5(VPS13B):c.11215+8G>T	rs1285906381	0.00001
NM_152564.5(VPS13B):c.1137A>G (p.Lys379=)	rs1847925535	0.00001
NM_152564.5(VPS13B):c.1141C>T (p.Gln381Ter)	rs774376104	0.00001
NM_152564.5(VPS13B):c.114C>T (p.Ser38=)	rs768496696	0.00001
NM_152564.5(VPS13B):c.11501del (p.Met3834fs)	rs1394681818	0.00001
NM_152564.5(VPS13B):c.11520del (p.Arg3840fs)	rs747217399	0.00001
NM_152564.5(VPS13B):c.11746-1G>A	rs372327659	0.00001
NM_152564.5(VPS13B):c.11758C>T (p.Arg3920Ter)	rs933746831	0.00001
NM_152564.5(VPS13B):c.1662T>C (p.Asn554=)	rs2488785957	0.00001
NM_152564.5(VPS13B):c.1701A>G (p.Gly567=)	rs1233669833	0.00001
NM_152564.5(VPS13B):c.2074C>T (p.Arg692Ter)	rs180177356	0.00001
NM_152564.5(VPS13B):c.207A>T (p.Val69=)	rs772922484	0.00001
NM_152564.5(VPS13B):c.2244T>C (p.Asp748=)	rs146450992	0.00001
NM_152564.5(VPS13B):c.3234G>A (p.Val1078=)	rs1339519603	0.00001
NM_152564.5(VPS13B):c.3427C>T (p.Arg1143Ter)	rs386834080	0.00001
NM_152564.5(VPS13B):c.4140T>A (p.Ile1380=)	rs763157781	0.00001
NM_152564.5(VPS13B):c.4336C>T (p.Arg1446Ter)	rs386834086	0.00001
NM_152564.5(VPS13B):c.4959G>A (p.Arg1653=)	rs182877520	0.00001
NM_152564.5(VPS13B):c.5011C>T (p.Arg1671Ter)	rs386834093	0.00001
NM_152564.5(VPS13B):c.5124C>T (p.Asn1708=)	rs746586467	0.00001
NM_152564.5(VPS13B):c.5221-5T>C	rs761788793	0.00001
NM_152564.5(VPS13B):c.5678_5679del (p.Leu1893fs)	rs886041586	0.00001
NM_152564.5(VPS13B):c.5705C>A (p.Ser1902Ter)	rs1829401940	0.00001
NM_152564.5(VPS13B):c.5796T>C (p.Phe1932=)	rs765209957	0.00001
NM_152564.5(VPS13B):c.5832C>T (p.His1944=)	rs372340783	0.00001
NM_152564.5(VPS13B):c.5845C>T (p.Arg1949Ter)	rs180177365	0.00001
NM_152564.5(VPS13B):c.5909-8C>T	rs369342604	0.00001
NM_152564.5(VPS13B):c.6714T>C (p.Asn2238=)	rs375613057	0.00001
NM_152564.5(VPS13B):c.6947A>G (p.Tyr2316Cys)	rs386834104	0.00001
NM_152564.5(VPS13B):c.7528C>T (p.Arg2510Ter)	rs386834107	0.00001
NM_152564.5(VPS13B):c.7965T>C (p.Gly2655=)	rs758430817	0.00001
NM_152564.5(VPS13B):c.7980T>G (p.Arg2660=)	rs780841974	0.00001
NM_152564.5(VPS13B):c.8044C>T (p.Arg2682Ter)	rs386834110	0.00001
NM_152564.5(VPS13B):c.8397G>A (p.Trp2799Ter)	rs386834112	0.00001
NM_152564.5(VPS13B):c.8440C>T (p.Arg2814Ter)	rs386834113	0.00001
NM_152564.5(VPS13B):c.8827C>T (p.Arg2943Ter)	rs755996065	0.00001
NM_152564.5(VPS13B):c.8964T>C (p.Ala2988=)	rs756929597	0.00001
NM_152564.5(VPS13B):c.972T>G (p.Tyr324Ter)	rs1243094816	0.00001
NM_152618.3(BBS12):c.104C>A (p.Ser35Ter)	rs1381368546	0.00001
NM_152618.3(BBS12):c.1375C>T (p.Gln459Ter)	rs1269565757	0.00001
NM_152618.3(BBS12):c.1394T>C (p.Val465Ala)	rs1357690062	0.00001
NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter)	rs752202089	0.00001
NM_152618.3(BBS12):c.65T>C (p.Phe22Ser)	rs565073445	0.00001
NM_152618.3(BBS12):c.865G>C (p.Ala289Pro)	rs121918328	0.00001
NM_153006.3(NAGS):c.1268+2T>C	rs202041339	0.00001
NM_153006.3(NAGS):c.1272C>G (p.Tyr424Ter)	rs1214956593	0.00001
NM_153006.3(NAGS):c.534G>A (p.Pro178=)	rs539061299	0.00001
NM_153676.4(USH1C):c.1039C>T (p.Gln347Ter)	rs762551629	0.00001
NM_153717.3(EVC):c.1777-1G>A	rs1262933856	0.00001
NM_153717.3(EVC):c.1777-2A>G	rs909612975	0.00001
NM_153717.3(EVC):c.2894+3A>G	rs1424976594	0.00001
NM_153717.3(EVC):c.617G>A (p.Ser206Asn)	rs1017946059	0.00001
NM_153717.3(EVC):c.918C>A (p.Tyr306Ter)	rs1560323242	0.00001
NM_153717.3(EVC):c.919T>C (p.Ser307Pro)	rs121908426	0.00001
NM_172250.3(MMAA):c.1076G>A (p.Arg359Gln)	rs864309731	0.00001
NM_172250.3(MMAA):c.129G>A (p.Pro43=)	rs779779664	0.00001
NM_172250.3(MMAA):c.304G>A (p.Ala102Thr)	rs1328584680	0.00001
NM_172250.3(MMAA):c.365T>C (p.Leu122Pro)	rs760875006	0.00001
NM_172250.3(MMAA):c.434G>A (p.Arg145Gln)	rs200577967	0.00001
NM_172250.3(MMAA):c.733+1G>A	rs779939886	0.00001
NM_172250.3(MMAA):c.756del (p.Val253fs)	rs1489525542	0.00001
NM_172250.3(MMAA):c.833G>A (p.Gly278Asp)	rs761964238	0.00001
NM_174878.3(CLRN1):c.433+1G>A	rs201205811	0.00001
NM_182760.4(SUMF1):c.1045C>T (p.Arg349Trp)	rs137852846	0.00001
NM_182760.4(SUMF1):c.1046G>A (p.Arg349Gln)	rs137852847	0.00001
NM_182760.4(SUMF1):c.198C>T (p.Ala66=)	rs1414180953	0.00001
NM_182760.4(SUMF1):c.358dup (p.Thr120fs)	rs867197652	0.00001
NM_182760.4(SUMF1):c.445-1G>A	rs1237016251	0.00001
NM_182760.4(SUMF1):c.447T>C (p.Ala149=)	rs750372409	0.00001
NM_182760.4(SUMF1):c.536G>A (p.Trp179Ter)	rs757323641	0.00001
NM_182760.4(SUMF1):c.602+10G>T	rs376667963	0.00001
NM_182760.4(SUMF1):c.627G>C (p.Val209=)	rs748118171	0.00001
NM_182760.4(SUMF1):c.715C>T (p.Leu239=)	rs779864102	0.00001
NM_182760.4(SUMF1):c.818A>G (p.Asp273Gly)	rs772711848	0.00001
NM_183050.4(BCKDHB):c.1159C>T (p.Arg387Ter)	rs751599203	0.00001
NM_183050.4(BCKDHB):c.1A>T (p.Met1Leu)	rs1005542482	0.00001
NM_183050.4(BCKDHB):c.633+1G>A	rs398124589	0.00001
NM_183050.4(BCKDHB):c.752T>C (p.Val251Ala)	rs398124593	0.00001
NM_201525.4(ADGRG1):c.286C>T (p.Arg96Ter)	rs146278035	0.00001
NM_201525.4(ADGRG1):c.367C>T (p.Gln123Ter)	rs1047016803	0.00001
NM_201548.5(CERKL):c.1074-1G>C	rs927261937	0.00001
NM_201548.5(CERKL):c.1303C>T (p.Arg435Ter)	rs1187839124	0.00001
NM_201548.5(CERKL):c.356G>A (p.Gly119Asp)	rs1003615909	0.00001
NM_201548.5(CERKL):c.365T>G (p.Leu122Arg)	rs558913945	0.00001
NM_205861.3(DHDDS):c.324-4T>G	rs747118618	0.00001
NM_205861.3(DHDDS):c.366C>T (p.Gly122=)	rs774001400	0.00001
NM_205861.3(DHDDS):c.57C>T (p.Ile19=)	rs981419090	0.00001
NM_205861.3(DHDDS):c.987C>T (p.Gly329=)	rs1381026387	0.00001
NM_206933.4(USH2A):c.1047T>C (p.Asp349=)	rs775053681	0.00001
NM_206933.4(USH2A):c.10525A>T (p.Lys3509Ter)	rs944675223	0.00001
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met)	rs202175091	0.00001
NM_206933.4(USH2A):c.1172G>T (p.Ser391Ile)	rs949082769	0.00001
NM_206933.4(USH2A):c.12152_12153insTT (p.Glu4051fs)	rs1064793289	0.00001
NM_206933.4(USH2A):c.12284G>A (p.Gly4095Asp)	rs759898765	0.00001
NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile)	rs753330544	0.00001
NM_206933.4(USH2A):c.13811+1G>A	rs1177257719	0.00001
NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter)	rs397517994	0.00001
NM_206933.4(USH2A):c.15200del (p.Ile5067fs)	rs1295968274	0.00001
NM_206933.4(USH2A):c.1724G>A (p.Cys575Tyr)	rs483353054	0.00001
NM_206933.4(USH2A):c.4616C>T (p.Thr1539Ile)	rs758095361	0.00001
NM_206933.4(USH2A):c.4821G>A (p.Trp1607Ter)	rs745350407	0.00001
NM_206933.4(USH2A):c.5278del (p.Asp1760fs)	rs754374132	0.00001
NM_206933.4(USH2A):c.5298+5G>A	rs1176314553	0.00001
NM_206933.4(USH2A):c.5572+1G>A	rs775293551	0.00001
NM_206933.4(USH2A):c.6967C>T (p.Arg2323Ter)	rs1485173724	0.00001
NM_206933.4(USH2A):c.8232G>C (p.Trp2744Cys)	rs1424639717	0.00001
NM_206933.4(USH2A):c.8254G>A (p.Gly2752Arg)	rs201863550	0.00001
NM_206933.4(USH2A):c.8522G>A (p.Trp2841Ter)	rs1064797134	0.00001
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter)	rs397518041	0.00001
NM_206933.4(USH2A):c.9258+1G>A	rs748810737	0.00001
NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg)	rs111033263	0.00001
NM_206933.4(USH2A):c.99_100insT (p.Arg34fs)	rs141672841	0.00001
NM_213653.4(HJV):c.59dup (p.Ser21fs)	rs782164742	0.00001
NM_213653.4(HJV):c.976C>T (p.Arg326Ter)	rs74315324	0.00001
NR_003051.3(RMRP):n.-2_6dupGTGGTTCG	rs1169511671	0.00001
NR_003051.4(RMRP):n.-20_-1dup	rs1554651403	0.00001
NR_003051.4(RMRP):n.-21_-13dup	rs1563908167	0.00001
NR_003051.4(RMRP):n.195G>A	rs761398394	0.00001
NR_003051.4(RMRP):n.256C>G	rs1170858087	0.00001
NC_000009.12:g.35657872C>T	rs753874439
NC_000009.12:g.35658025_35658032dup	rs1563907946
NC_000009.12:g.35658036_35658042dup	rs1554651543
NC_000011.10:g.2171856C>T	rs1372180906
NC_000015.9:g.68504037_68504039delGAT	rs121908080
NC_000021.9:g.43063107_43063108insCCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG
NC_000023.11:g.70027902_70027919del	rs397516668
NM_000016.6(ACADM):c.-6_6delinsACCCCGAGTG (p.Met1fs)	rs875989865
NM_000016.6(ACADM):c.1010A>C (p.Tyr337Ser)	rs1323513432
NM_000016.6(ACADM):c.1034A>T (p.Asp345Val)	rs771978135
NM_000016.6(ACADM):c.1040G>T (p.Gly347Val)	rs1648832398
NM_000016.6(ACADM):c.1042del (p.Arg348fs)	rs2100453109
NM_000016.6(ACADM):c.1046G>T (p.Arg349Leu)	rs760335676
NM_000016.6(ACADM):c.1049_1055dup (p.Tyr352Ter)	rs2525698959
NM_000016.6(ACADM):c.1059T>C (p.Tyr353=)
NM_000016.6(ACADM):c.107_113dup (p.Ser38delinsArgIleTer)	rs875989875
NM_000016.6(ACADM):c.1102_1105del (p.Ala369fs)	rs387906297
NM_000016.6(ACADM):c.1120C>T (p.Gln374Ter)	rs2100453612
NM_000016.6(ACADM):c.118+114A>G	rs875989868
NM_000016.6(ACADM):c.1207A>G (p.Thr403Ala)	rs1462472677
NM_000016.6(ACADM):c.1221_1222del (p.Arg408fs)	rs875989860
NM_000016.6(ACADM):c.1226_1227del (p.Leu409fs)	rs2525706737
NM_000016.6(ACADM):c.1229T>C (p.Ile410Thr)	rs1361089796
NM_000016.6(ACADM):c.1237C>A (p.Arg413Ser)	rs139686925
NM_000016.6(ACADM):c.130C>T (p.Gln44Ter)	rs2525572000
NM_000016.6(ACADM):c.1A>G (p.Met1Val)	rs1057516778
NM_000016.6(ACADM):c.201T>A (p.Tyr67Ter)	rs754833969
NM_000016.6(ACADM):c.216+1G>T	rs1057516801
NM_000016.6(ACADM):c.217-1G>A	rs1570861829
NM_000016.6(ACADM):c.217-2A>G	rs1647169738
NM_000016.6(ACADM):c.224del (p.Val75fs)	rs1057516480
NM_000016.6(ACADM):c.232dup (p.Ile78fs)	rs2100363479
NM_000016.6(ACADM):c.241G>A (p.Ala81Thr)	rs1448376709
NM_000016.6(ACADM):c.253G>C (p.Gly85Arg)	rs398123075
NM_000016.6(ACADM):c.287-1G>C	rs794727694
NM_000016.6(ACADM):c.287-2A>G	rs1057518677
NM_000016.6(ACADM):c.30+1G>C	rs1647021342
NM_000016.6(ACADM):c.306_307insG (p.Phe103fs)	rs2100365750
NM_000016.6(ACADM):c.322_325del (p.Ile108fs)	rs875989873
NM_000016.6(ACADM):c.346T>G (p.Cys116Gly)	rs875989863
NM_000016.6(ACADM):c.353G>C (p.Gly118Ala)	rs1647188699
NM_000016.6(ACADM):c.355dup (p.Val119fs)	rs1553123071
NM_000016.6(ACADM):c.356T>A (p.Val119Asp)	rs1553123077
NM_000016.6(ACADM):c.383dup (p.Leu128fs)	rs1647189225
NM_000016.6(ACADM):c.387+1del	rs786204424
NM_000016.6(ACADM):c.387+2T>C	rs2525578687
NM_000016.6(ACADM):c.388-19T>A	rs1553123252
NM_000016.6(ACADM):c.397ATT[2] (p.Ile135del)	rs1570866192
NM_000016.6(ACADM):c.423_425del (p.Lys144del)	rs886042087
NM_000016.6(ACADM):c.424AAG[2] (p.Lys144del)	rs875989857
NM_000016.6(ACADM):c.437del (p.Leu146fs)	rs749529577
NM_000016.6(ACADM):c.449_452del (p.Thr150fs)	rs786204642
NM_000016.6(ACADM):c.461T>G (p.Leu154Trp)	rs1553123263
NM_000016.6(ACADM):c.468+1G>A	rs776498263
NM_000016.6(ACADM):c.468+7A>G
NM_000016.6(ACADM):c.472T>C (p.Tyr158His)	rs1570876467
NM_000016.6(ACADM):c.473A>G (p.Tyr158Cys)	rs1553123858
NM_000016.6(ACADM):c.47del (p.Ser16fs)	rs1325949559
NM_000016.6(ACADM):c.494C>T (p.Ala165Val)	rs1260394550
NM_000016.6(ACADM):c.526G>T (p.Ala176Ser)	rs200754053
NM_000016.6(ACADM):c.530A>G (p.Glu177Gly)	rs2525609038
NM_000016.6(ACADM):c.536_568del (p.Lys179_Lys189del)	rs1553123869
NM_000016.6(ACADM):c.542A>G (p.Asp181Gly)	rs1553123872
NM_000016.6(ACADM):c.554T>C (p.Ile185Thr)	rs1647480996
NM_000016.6(ACADM):c.577A>G (p.Thr193Ala)	rs121434279
NM_000016.6(ACADM):c.592G>A (p.Ala198Thr)	rs1647485086
NM_000016.6(ACADM):c.599+8G>T
NM_000016.6(ACADM):c.600G>A (p.Trp200Ter)	rs1553124735
NM_000016.6(ACADM):c.603T>A (p.Tyr201Ter)	rs992092720
NM_000016.6(ACADM):c.614C>T (p.Ala205Val)	rs1647865251
NM_000016.6(ACADM):c.617G>T (p.Arg206Leu)	rs200724875
NM_000016.6(ACADM):c.622G>T (p.Asp208Tyr)	rs983879715
NM_000016.6(ACADM):c.65C>A (p.Ser22Ter)	rs1325609596
NM_000016.6(ACADM):c.67C>T (p.Gln23Ter)	rs1570851702
NM_000016.6(ACADM):c.683C>A (p.Thr228Asn)	rs149678400
NM_000016.6(ACADM):c.686del (p.Pro229fs)	rs1647873033
NM_000016.6(ACADM):c.742A>G (p.Arg248Gly)	rs875989867
NM_000016.6(ACADM):c.755T>G (p.Phe252Cys)	rs780510026
NM_000016.6(ACADM):c.773C>T (p.Pro258Leu)	rs1022879056
NM_000016.6(ACADM):c.778_782del (p.Glu260fs)	rs2100417619
NM_000016.6(ACADM):c.799G>T (p.Gly267Ter)	rs121434274
NM_000016.6(ACADM):c.817_829del (p.Ala273fs)	rs875989872
NM_000016.6(ACADM):c.842G>C (p.Arg281Thr)	rs121434282
NM_000016.6(ACADM):c.850-2A>G	rs761317029
NM_000016.6(ACADM):c.86G>T (p.Arg29Leu)	rs769906625
NM_000016.6(ACADM):c.882_883del (p.Arg294fs)	rs796051901
NM_000016.6(ACADM):c.926dup (p.Gly310fs)	rs875989864
NM_000016.6(ACADM):c.927del (p.Phe309fs)	rs1557458562
NM_000016.6(ACADM):c.957_958del (p.Ser320fs)	rs1057517103
NM_000016.6(ACADM):c.959C>A (p.Ser320Ter)	rs1057516485
NM_000016.6(ACADM):c.982A>G (p.Met328Val)	rs1648825926
NM_000016.6(ACADM):c.999_1011dup (p.Gln338Ter)	rs1225471006
NM_000018.3(ACADVL):c.1375dup	rs796051916
NM_000018.4(ACADVL):c.103_112del (p.Pro35fs)	rs1329022268
NM_000018.4(ACADVL):c.1043_1065dup (p.Ile356delinsTrpGlnValProTer)	rs1555528508
NM_000018.4(ACADVL):c.105_109dup (p.Arg37fs)	rs1555527532
NM_000018.4(ACADVL):c.1062CAT[1] (p.Ile356del)	rs754325237
NM_000018.4(ACADVL):c.106_118del (p.Ala36fs)
NM_000018.4(ACADVL):c.1077+1G>A	rs140989450
NM_000018.4(ACADVL):c.1077_1077+1delinsCAC	rs1057516686
NM_000018.4(ACADVL):c.1145del (p.Lys382fs)	rs1281137823
NM_000018.4(ACADVL):c.1246G>A (p.Ala416Thr)	rs118204018
NM_000018.4(ACADVL):c.1269+1G>A	rs773401248
NM_000018.4(ACADVL):c.1269+9C>G	rs2142984643
NM_000018.4(ACADVL):c.1287G>A (p.Val429=)	rs999226548
NM_000018.4(ACADVL):c.1303C>T (p.Gln435Ter)
NM_000018.4(ACADVL):c.1313G>A (p.Gly438Glu)	rs748450834
NM_000018.4(ACADVL):c.1316dup (p.Met440fs)	rs748077880
NM_000018.4(ACADVL):c.1328T>C (p.Met443Thr)	rs886043236
NM_000018.4(ACADVL):c.138+2T>C	rs1057516817
NM_000018.4(ACADVL):c.138+2dup	rs1555527548
NM_000018.4(ACADVL):c.1398C>T (p.Asp466=)	rs2142986089
NM_000018.4(ACADVL):c.1536G>C (p.Arg512=)	rs946654479
NM_000018.4(ACADVL):c.1611_1627dup (p.Phe543fs)
NM_000018.4(ACADVL):c.1613G>C (p.Arg538Pro)	rs201350598
NM_000018.4(ACADVL):c.1616C>A (p.Ala539Asp)	rs781613690
NM_000018.4(ACADVL):c.1630_1645del (p.Ala544fs)	rs1131691553
NM_000018.4(ACADVL):c.1663AAG[1] (p.Lys556del)	rs866424446
NM_000018.4(ACADVL):c.1678+3_1678+6del	rs759135941
NM_000018.4(ACADVL):c.1698G>A (p.Gln566=)	rs2508366401
NM_000018.4(ACADVL):c.1699C>T (p.Arg567Trp)	rs864321651
NM_000018.4(ACADVL):c.1722C>T (p.Asp574=)	rs2142989956
NM_000018.4(ACADVL):c.1730_1733dup (p.Met578fs)	rs2071395559
NM_000018.4(ACADVL):c.1738del (p.Val580fs)	rs2508367351
NM_000018.4(ACADVL):c.1770_1773del (p.Ser590fs)	rs1555529048
NM_000018.4(ACADVL):c.1806_1807del (p.Leu602_Cys603insTer)	rs796051917
NM_000018.4(ACADVL):c.1827+1G>A	rs2508371476
NM_000018.4(ACADVL):c.1838_1839delinsAA (p.Arg613Gln)	rs2508373035
NM_000018.4(ACADVL):c.1843C>T (p.Arg615Ter)	rs1057520507
NM_000018.4(ACADVL):c.1878G>A (p.Trp626Ter)	rs1555529186
NM_000018.4(ACADVL):c.1908dup (p.Ile637fs)	rs1555529204
NM_000018.4(ACADVL):c.1923G>C (p.Leu641Phe)	rs1452402269
NM_000018.4(ACADVL):c.192dup (p.Pro65fs)	rs771055189
NM_000018.4(ACADVL):c.298_299del (p.Gln100fs)	rs786204713
NM_000018.4(ACADVL):c.308_309del (p.Lys103fs)	rs1057516979
NM_000018.4(ACADVL):c.327G>A (p.Val109=)	rs2508258340
NM_000018.4(ACADVL):c.335del (p.Phe112fs)	rs764028320
NM_000018.4(ACADVL):c.343del	rs387906249
NM_000018.4(ACADVL):c.385GAG[1] (p.Glu130del)	rs387906251
NM_000018.4(ACADVL):c.428_467del (p.Gly143fs)	rs758144859
NM_000018.4(ACADVL):c.481G>A (p.Ala161Thr)	rs375284481
NM_000018.4(ACADVL):c.504C>T (p.Gly168=)	rs2508281729
NM_000018.4(ACADVL):c.58G>T (p.Gly20Ter)	rs2508231433
NM_000018.4(ACADVL):c.601T>C (p.Tyr201His)	rs2071233789
NM_000018.4(ACADVL):c.602A>G (p.Tyr201Cys)	rs1597525536
NM_000018.4(ACADVL):c.619T>C (p.Ser207Pro)	rs768975918
NM_000018.4(ACADVL):c.62+1G>A	rs2071111529
NM_000018.4(ACADVL):c.623-1G>A	rs1597526782
NM_000018.4(ACADVL):c.644_647del (p.Phe214_Cys215insTer)	rs1057516714
NM_000018.4(ACADVL):c.678C>A (p.Ala226=)	rs372114185
NM_000018.4(ACADVL):c.693T>A (p.Ser231=)	rs77763289
NM_000018.4(ACADVL):c.709T>C (p.Cys237Arg)	rs1189763523
NM_000018.4(ACADVL):c.753-27C>T	rs374911841
NM_000018.4(ACADVL):c.753-2A>G	rs398123092
NM_000018.4(ACADVL):c.799_802del (p.Val267fs)	rs761204548
NM_000018.4(ACADVL):c.829_831del (p.Glu277del)	rs796051913
NM_000018.4(ACADVL):c.830AGA[1] (p.Lys278del)	rs769280599
NM_000018.4(ACADVL):c.856_857del (p.Arg286fs)	rs2071269046
NM_000018.4(ACADVL):c.869dup (p.Ile291fs)	rs886044671
NM_000018.4(ACADVL):c.890AGA[2] (p.Lys299del)	rs387906252
NM_000018.4(ACADVL):c.898A>G (p.Met300Val)	rs1026112888
NM_000018.4(ACADVL):c.926_927del (p.Glu309fs)	rs2071289046
NM_000018.4(ACADVL):c.932del (p.Phe311fs)	rs764488310
NM_000018.4(ACADVL):c.996dup (p.Ala333fs)	rs1057516843
NM_000019.4(ACAT1):c.1049G>A (p.Trp350Ter)	rs1367121673
NM_000019.4(ACAT1):c.1128_1131dup (p.Gly378fs)	rs2134791752
NM_000019.4(ACAT1):c.121-3C>G	rs1591361919
NM_000019.4(ACAT1):c.1A>C (p.Met1Leu)	rs1305448140
NM_000019.4(ACAT1):c.217C>T (p.Gln73Ter)	rs2496581880
NM_000019.4(ACAT1):c.229del (p.Glu77fs)	rs2077411287
NM_000019.4(ACAT1):c.248AAG[2] (p.Glu85del)	rs866364527
NM_000019.4(ACAT1):c.301C>T (p.Gln101Ter)	rs1591362483
NM_000019.4(ACAT1):c.30del (p.Ser10fs)	rs1565281236
NM_000019.4(ACAT1):c.375_376del (p.Ala127fs)	rs774418317
NM_000019.4(ACAT1):c.410_418delinsT (p.Ser137fs)	rs1591363795
NM_000019.4(ACAT1):c.436-4G>C	rs3741050
NM_000019.4(ACAT1):c.537del (p.Ile179fs)	rs1415293773
NM_000019.4(ACAT1):c.64_72+10del	rs1318268067
NM_000019.4(ACAT1):c.677G>A (p.Trp226Ter)
NM_000019.4(ACAT1):c.730+2T>C	rs398123096
NM_000019.4(ACAT1):c.787A>T (p.Lys263Ter)	rs2134768866
NM_000019.4(ACAT1):c.806_807del (p.Thr269fs)	rs1476922493
NM_000019.4(ACAT1):c.824del (p.Asn275fs)	rs1163072872
NM_000019.4(ACAT1):c.826+2T>G	rs2077590197
NM_000019.4(ACAT1):c.829A>C (p.Thr277Pro)	rs1591371019
NM_000019.4(ACAT1):c.83_84del (p.Tyr28fs)	rs749873354
NM_000019.4(ACAT1):c.890C>A (p.Thr297Lys)	rs886041122
NM_000019.4(ACAT1):c.890C>T (p.Thr297Met)	rs886041122
NM_000019.4(ACAT1):c.921A>G (p.Thr307=)	rs2077610591
NM_000019.4(ACAT1):c.940+1G>T	rs1591371185
NM_000019.4(ACAT1):c.947_949dup (p.Ala316dup)	rs1591372596
NM_000022.4(ADA):c.1078+2T>C	rs1555843178
NM_000022.4(ADA):c.201C>G (p.Tyr67Ter)	rs1419063255
NM_000022.4(ADA):c.2T>C (p.Met1Thr)
NM_000022.4(ADA):c.302G>T (p.Arg101Leu)	rs121908714
NM_000022.4(ADA):c.311C>T (p.Pro104Leu)	rs1452483770
NM_000022.4(ADA):c.366_367del (p.Asp123fs)	rs758073965
NM_000022.4(ADA):c.385G>A (p.Val129Met)	rs121908731
NM_000022.4(ADA):c.412C>T (p.Gln138Ter)	rs1323402380
NM_000022.4(ADA):c.532del (p.Val177_Val178insTer)	rs886041796
NM_000022.4(ADA):c.577dup (p.Leu193fs)	rs759445496
NM_000022.4(ADA):c.603C>A (p.Tyr201Ter)	rs1555844395
NM_000022.4(ADA):c.708G>A (p.Leu236=)	rs757155433
NM_000022.4(ADA):c.736C>T (p.Gln246Ter)	rs1555844120
NM_000022.4(ADA):c.822G>A (p.Pro274=)	rs562095440
NM_000022.4(ADA):c.825C>T (p.Asp275=)	rs778167423
NM_000022.4(ADA):c.956_960del (p.Glu319fs)	rs771266745
NM_000022.4(ADA):c.976-1_979del	rs1441174171
NM_000023.3(SGCA):c.586delG	rs1220674950
NM_000023.4(SGCA):c.1011C>A (p.Ile337=)	rs1209145667
NM_000023.4(SGCA):c.1039_1042dup (p.Ala348fs)	rs1598277713
NM_000023.4(SGCA):c.129G>A (p.Glu43=)	rs2144493407
NM_000023.4(SGCA):c.1A>G (p.Met1Val)	rs2509113878
NM_000023.4(SGCA):c.241C>T (p.Arg81Cys)	rs398123098
NM_000023.4(SGCA):c.271G>A (p.Gly91Ser)	rs890921874
NM_000023.4(SGCA):c.317_318del (p.Thr106fs)	rs1567739735
NM_000023.4(SGCA):c.37+1G>T	rs111386656
NM_000023.4(SGCA):c.37+2C>G	rs112500642
NM_000023.4(SGCA):c.391del (p.Leu131fs)	rs144356125
NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter)	rs780264754
NM_000023.4(SGCA):c.403C>T (p.Gln135Ter)	rs886043221
NM_000023.4(SGCA):c.409G>C (p.Glu137Gln)	rs372210292
NM_000023.4(SGCA):c.480C>G (p.Ala160=)	rs2144496738
NM_000023.4(SGCA):c.488dup (p.Leu164fs)	rs763986788
NM_000023.4(SGCA):c.49G>A (p.Gly17Arg)	rs573792379
NM_000023.4(SGCA):c.588A>G (p.Val196=)
NM_000023.4(SGCA):c.675C>T (p.Gly225=)	rs773985328
NM_000023.4(SGCA):c.70C>T (p.Gln24Ter)	rs2144493135
NM_000023.4(SGCA):c.724G>T (p.Val242Phe)	rs200166783
NM_000023.4(SGCA):c.850C>G (p.Arg284Gly)	rs137852623
NM_000023.4(SGCA):c.904del (p.Leu302fs)	rs2144501172
NM_000023.4(SGCA):c.957-1G>T	rs2144502043
NM_000023.4(SGCA):c.95T>C (p.Val32Ala)	rs1017592342
NM_000027.4(AGA):c.127+8T>C	rs1227443826
NM_000027.4(AGA):c.128-7dup	rs1736960600
NM_000027.4(AGA):c.200_201del (p.Glu67fs)	rs386833420
NM_000027.4(AGA):c.302C>T (p.Ala101Val)	rs121964908
NM_000027.4(AGA):c.333del (p.Ile112fs)	rs1057517223
NM_000027.4(AGA):c.346C>T (p.Arg116Trp)	rs386833423
NM_000027.4(AGA):c.34G>T (p.Val12Leu)	rs74626221
NM_000027.4(AGA):c.373_376del (p.Thr125fs)	rs386833425
NM_000027.4(AGA):c.43C>T (p.Leu15=)	rs149921310
NM_000027.4(AGA):c.454C>T (p.Gln152Ter)	rs991950983
NM_000027.4(AGA):c.585T>C (p.His195=)	rs1736860088
NM_000027.4(AGA):c.595G>T (p.Glu199Ter)	rs370078048
NM_000027.4(AGA):c.698+1G>T	rs1057517175
NM_000027.4(AGA):c.755G>A (p.Gly252Glu)	rs386833433
NM_000027.4(AGA):c.822A>G (p.Glu274=)	rs2111007039
NM_000027.4(AGA):c.864del (p.Lys288_Val289insTer)	rs2476845907
NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp)	rs180177156
NM_000030.3(AGXT):c.1161C>A (p.Cys387Ter)	rs2528766716
NM_000030.3(AGXT):c.283_285dup (p.Glu95dup)	rs180177190
NM_000030.3(AGXT):c.322T>C (p.Trp108Arg)	rs180177197
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg)	rs34116584
NM_000030.3(AGXT):c.32C>T (p.Pro11Leu)	rs34116584
NM_000030.3(AGXT):c.33del (p.Lys12fs)	rs180177201
NM_000030.3(AGXT):c.416_418del (p.Val139del)	rs180177215
NM_000030.3(AGXT):c.466G>C (p.Gly156Arg)	rs121908530
NM_000030.3(AGXT):c.473C>T (p.Ser158Leu)	rs180177225
NM_000030.3(AGXT):c.517T>C (p.Cys173Arg)	rs2106428650
NM_000030.3(AGXT):c.518G>A (p.Cys173Tyr)	rs180177231
NM_000030.3(AGXT):c.577del (p.Leu193fs)	rs180177241
NM_000030.3(AGXT):c.584T>G (p.Met195Arg)	rs180177244
NM_000030.3(AGXT):c.646G>A (p.Gly216Arg)	rs180177252
NM_000030.3(AGXT):c.662_664del (p.Ser221del)	rs796052071
NM_000030.3(AGXT):c.839C>T (p.Ala280Val)	rs73106685
NM_000030.3(AGXT):c.847-1G>C	rs180177285
NM_000030.3(AGXT):c.994_995del (p.Trp332fs)	rs2528764378
NM_000030.3(AGXT):c.996G>A (p.Trp332Ter)	rs796052064
NM_000033.4(ABCD1):c.1092C>G (p.Ala364=)	rs782250326
NM_000033.4(ABCD1):c.1229C>T (p.Thr410Met)	rs782373145
NM_000033.4(ABCD1):c.1253G>A (p.Arg418Gln)	rs1046633404
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter)	rs128624221
NM_000033.4(ABCD1):c.1394-10_1394-9del	rs2148396014
NM_000033.4(ABCD1):c.1488+10G>A	rs1847185945
NM_000033.4(ABCD1):c.1568T>C (p.Leu523Pro)	rs2091762647
NM_000033.4(ABCD1):c.1675T>C (p.Tyr559His)	rs2091764510
NM_000033.4(ABCD1):c.1771C>T (p.Arg591Trp)	rs398123106
NM_000033.4(ABCD1):c.1812C>T (p.Val604=)	rs2522302615
NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys)	rs4010613
NM_000033.4(ABCD1):c.1900G>A (p.Ala634Thr)	rs782041940
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln)	rs1557055340
NM_000033.4(ABCD1):c.2106_2122del (p.Leu703fs)	rs1557055427
NM_000033.4(ABCD1):c.2135G>A (p.Arg712His)	rs1557055447
NM_000033.4(ABCD1):c.243G>A (p.Leu81=)
NM_000033.4(ABCD1):c.250C>T (p.Pro84Ser)	rs2091704834
NM_000033.4(ABCD1):c.251C>T (p.Pro84Leu)	rs2522264348
NM_000033.4(ABCD1):c.366C>T (p.Ile122=)	rs1557052319
NM_000033.4(ABCD1):c.488G>A (p.Arg163His)	rs1057517954
NM_000033.4(ABCD1):c.498_520del (p.Val167fs)	rs398123112
NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp)	rs1131691916
NM_000033.4(ABCD1):c.615G>A (p.Ala205=)	rs782601474
NM_000033.4(ABCD1):c.739G>A (p.Ala247Thr)	rs782487174
NM_000033.4(ABCD1):c.839G>A (p.Arg280His)	rs781904944
NM_000033.4(ABCD1):c.901-48_909del
NM_000033.4(ABCD1):c.948G>A (p.Gln316=)	rs2148391960
NM_000035.4(ALDOB):c.113-1_115del	rs786204598
NM_000035.4(ALDOB):c.162G>A (p.Glu54=)	rs2854709
NM_000035.4(ALDOB):c.165C>T (p.Asn55=)	rs759273480
NM_000035.4(ALDOB):c.231G>A (p.Val77=)	rs2118362315
NM_000035.4(ALDOB):c.282C>T (p.Phe94=)	rs549682194
NM_000035.4(ALDOB):c.302del (p.Lys101fs)	rs974582114
NM_000035.4(ALDOB):c.324+1G>A	rs764826805
NM_000035.4(ALDOB):c.324+2T>A	rs1057516379
NM_000035.4(ALDOB):c.324G>A (p.Lys108=)	rs750026492
NM_000035.4(ALDOB):c.325-1G>A	rs1402966846
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs)	rs387906225
NM_000035.4(ALDOB):c.379+1G>A	rs138121153
NM_000035.4(ALDOB):c.379+9A>T	rs778567515
NM_000035.4(ALDOB):c.380-1G>A	rs1554702666
NM_000035.4(ALDOB):c.380-2A>G	rs1300461861
NM_000035.4(ALDOB):c.420del (p.Asp141fs)	rs1057517421
NM_000035.4(ALDOB):c.469C>T (p.Gln157Ter)	rs1831149748
NM_000035.4(ALDOB):c.486C>T (p.Leu162=)	rs773334784
NM_000035.4(ALDOB):c.522C>G (p.Tyr174Ter)	rs752902486
NM_000035.4(ALDOB):c.612T>G (p.Tyr204Ter)	rs370793608
NM_000035.4(ALDOB):c.625-2A>G	rs786204503
NM_000035.4(ALDOB):c.673del (p.Glu225fs)	rs758133069
NM_000035.4(ALDOB):c.759C>T (p.Thr253=)	rs146360505
NM_000035.4(ALDOB):c.799+1G>A	rs2490120043
NM_000035.4(ALDOB):c.865del (p.Leu289fs)	rs864309533
NM_000035.4(ALDOB):c.915C>G (p.Ala305=)	rs1400203483
NM_000035.4(ALDOB):c.949_950insCAGGGCCCGTGCACTGGCTGCCTGGGGTGGCA (p.Lys317fs)
NM_000046.5(ARSB):c.1001G>T (p.Ser334Ile)	rs1554079311
NM_000046.5(ARSB):c.1057T>A (p.Trp353Arg)	rs1554079297
NM_000046.5(ARSB):c.108_120del (p.Ser37fs)	rs1028653411
NM_000046.5(ARSB):c.113_121del (p.Gly38_Gly40del)	rs550086186
NM_000046.5(ARSB):c.1143-1G>A	rs431905495
NM_000046.5(ARSB):c.1178A>G (p.His393Arg)	rs118203944
NM_000046.5(ARSB):c.1197C>G (p.Phe399Leu)	rs200793396
NM_000046.5(ARSB):c.1213+5G>A	rs1554074119
NM_000046.5(ARSB):c.121dup (p.Ala41fs)	rs1561197865
NM_000046.5(ARSB):c.123_139dup (p.Leu47fs)	rs766772376
NM_000046.5(ARSB):c.1299dup (p.Arg434Ter)	rs1355071930
NM_000046.5(ARSB):c.1325C>T (p.Thr442Met)	rs1057520739
NM_000046.5(ARSB):c.1340G>T (p.Cys447Phe)	rs1465993279
NM_000046.5(ARSB):c.1350G>T (p.Trp450Cys)
NM_000046.5(ARSB):c.1534_1556del (p.Val512fs)	rs1310996698
NM_000046.5(ARSB):c.1601A>G (p.Ter534Trp)	rs1554069655
NM_000046.5(ARSB):c.244C>T (p.Leu82=)	rs1753105092
NM_000046.5(ARSB):c.275C>A (p.Thr92Lys)	rs751010538
NM_000046.5(ARSB):c.359dup (p.Ser120fs)	rs1302294029
NM_000046.5(ARSB):c.440A>C (p.His147Pro)	rs1554088030
NM_000046.5(ARSB):c.499G>C (p.Gly167Arg)	rs1554087999
NM_000046.5(ARSB):c.574T>C (p.Cys192Arg)	rs1554087423
NM_000046.5(ARSB):c.64dup (p.Val22fs)	rs2112583680
NM_000046.5(ARSB):c.707T>C (p.Leu236Pro)	rs118203940
NM_000046.5(ARSB):c.922G>A (p.Gly308Arg)	rs1554079335
NM_000046.5(ARSB):c.937C>T (p.Pro313Ser)	rs749989641
NM_000046.5(ARSB):c.951A>G (p.Arg317=)	rs1318270777
NM_000046.5(ARSB):c.960C>G (p.Ser320Arg)	rs762614315
NM_000048.4(ASL):c.1080G>C (p.Met360Ile)	rs1786857910
NM_000048.4(ASL):c.1102A>G (p.Met368Val)	rs1554328202
NM_000048.4(ASL):c.1138A>G (p.Lys380Glu)	rs2485028603
NM_000048.4(ASL):c.1207del (p.Val403fs)	rs1554328363
NM_000048.4(ASL):c.1230G>A (p.Leu410=)	rs1397223617
NM_000048.4(ASL):c.1296C>T (p.His432=)	rs2485032147
NM_000048.4(ASL):c.13-1G>C	rs1554326239
NM_000048.4(ASL):c.241C>T (p.Leu81=)	rs1297216151
NM_000048.4(ASL):c.257A>C (p.Glu86Ala)	rs869312986
NM_000048.4(ASL):c.348+1G>A	rs2115698756
NM_000048.4(ASL):c.402C>A (p.Gly134=)	rs1308519514
NM_000048.4(ASL):c.461T>C (p.Leu154Pro)	rs869312988
NM_000048.4(ASL):c.503G>A (p.Arg168His)	rs727503811
NM_000048.4(ASL):c.556C>T (p.Arg186Trp)	rs111407265
NM_000048.4(ASL):c.562C>T (p.Leu188=)	rs2485008724
NM_000048.4(ASL):c.571C>G (p.Arg191Gly)	rs143508372
NM_000048.4(ASL):c.614C>T (p.Ala205Val)	rs796051925
NM_000048.4(ASL):c.631_647del (p.Val211fs)	rs1554327181
NM_000048.4(ASL):c.651A>G (p.Arg217=)	rs1460904725
NM_000048.4(ASL):c.675C>G (p.Ile225Met)	rs1554327265
NM_000048.4(ASL):c.723G>A (p.Glu241=)	rs1409068410
NM_000048.4(ASL):c.834-1G>A	rs768722904
NM_000048.4(ASL):c.973_976del (p.Leu325fs)	rs763407938
NM_000048.4(ASL):c.99C>G (p.His33Gln)	rs142077823
NM_000049.4(ASPA):c.101G>A (p.Trp34Ter)	rs2150741763
NM_000049.4(ASPA):c.102G>A (p.Trp34Ter)	rs2543606652
NM_000049.4(ASPA):c.147dup (p.Pro50fs)	rs1597422432
NM_000049.4(ASPA):c.169G>A (p.Ala57Thr)	rs2150741844
NM_000049.4(ASPA):c.170C>T (p.Ala57Val)	rs1555538148
NM_000049.4(ASPA):c.237-1G>A	rs1057517291
NM_000049.4(ASPA):c.244_245del (p.Met82fs)	rs786204620
NM_000049.4(ASPA):c.244dup (p.Met82fs)	rs756198538
NM_000049.4(ASPA):c.283G>T (p.Glu95Ter)	rs2543619356
NM_000049.4(ASPA):c.32del (p.Ile11fs)	rs767666474
NM_000049.4(ASPA):c.340G>T (p.Asp114Tyr)	rs1446467099
NM_000049.4(ASPA):c.347_348insAA (p.His116fs)	rs2543619675
NM_000049.4(ASPA):c.358_361del (p.Ser120fs)	rs2073633067
NM_000049.4(ASPA):c.382del (p.Glu129fs)	rs1555538825
NM_000049.4(ASPA):c.3G>A (p.Met1Ile)	rs1597422213
NM_000049.4(ASPA):c.427A>T (p.Ile143Phe)	rs199565861
NM_000049.4(ASPA):c.428T>C (p.Ile143Thr)	rs777936704
NM_000049.4(ASPA):c.432+7T>G	rs2543620106
NM_000049.4(ASPA):c.437_449del (p.Ser146fs)	rs2073669074
NM_000049.4(ASPA):c.444T>C (p.Ala148=)	rs2543624347
NM_000049.4(ASPA):c.454T>C (p.Cys152Arg)	rs104894548
NM_000049.4(ASPA):c.456_459del (p.Cys152fs)	rs2543624410
NM_000049.4(ASPA):c.465T>G (p.Tyr155Ter)	rs2543624449
NM_000049.4(ASPA):c.530T>C (p.Ile177Thr)	rs1597438977
NM_000049.4(ASPA):c.532_533dup (p.Val179fs)	rs2073779014
NM_000049.4(ASPA):c.548C>A (p.Pro183His)	rs1555539857
NM_000049.4(ASPA):c.556G>T (p.Val186Phe)
NM_000049.4(ASPA):c.580C>T (p.Gln194Ter)	rs1482032907
NM_000049.4(ASPA):c.609del (p.Asp204fs)	rs1597439149
NM_000049.4(ASPA):c.635-1G>C	rs2543647908
NM_000049.4(ASPA):c.640G>T (p.Glu214Ter)	rs1057516416
NM_000049.4(ASPA):c.71A>G (p.Glu24Gly)	rs104894551
NM_000049.4(ASPA):c.723T>C (p.Ala241=)	rs2073877008
NM_000049.4(ASPA):c.827_828del (p.Cys276fs)	rs1057517085
NM_000049.4(ASPA):c.876_879del (p.Glu293fs)	rs766720790
NM_000049.4(ASPA):c.877_878del (p.Glu293fs)	rs2150764223
NM_000049.4(ASPA):c.885dup (p.Ala296fs)	rs2543658211
NM_000049.4(ASPA):c.89T>C (p.Leu30Pro)	rs1555538144
NM_000051.4(ATM):c.1017del (p.Ile339fs)	rs1469427343
NM_000051.4(ATM):c.1027_1030del (p.Glu343fs)	rs587780612
NM_000051.4(ATM):c.1045_1052del (p.Met349fs)	rs1565375817
NM_000051.4(ATM):c.1065+1G>T	rs201089102
NM_000051.4(ATM):c.1215del (p.Asn405fs)	rs1555069815
NM_000051.4(ATM):c.1235+4_1235+5del	rs770033355
NM_000051.4(ATM):c.1236-2A>G	rs80159221
NM_000051.4(ATM):c.1290_1291del (p.Cys430_Glu431delinsTer)	rs587781598
NM_000051.4(ATM):c.1305del (p.Leu435fs)	rs1555070719
NM_000051.4(ATM):c.1314A>T (p.Ile438=)	rs770573462
NM_000051.4(ATM):c.1404G>A (p.Lys468=)	rs2135321676
NM_000051.4(ATM):c.1524del (p.Gly509fs)	rs786204737
NM_000051.4(ATM):c.1560C>T (p.Asp520=)	rs1591524777
NM_000051.4(ATM):c.1568del (p.Phe523fs)
NM_000051.4(ATM):c.15dup (p.Asn6Ter)	rs876660842
NM_000051.4(ATM):c.1653T>C (p.Val551=)	rs2135340024
NM_000051.4(ATM):c.172del (p.Asp58fs)	rs1555054243
NM_000051.4(ATM):c.1830A>G (p.Lys610=)	rs2497289824
NM_000051.4(ATM):c.1838_1839del (p.Val613fs)	rs1591530854
NM_000051.4(ATM):c.1844T>C (p.Leu615Pro)	rs786203783
NM_000051.4(ATM):c.1880dup (p.Gln628fs)	rs786202474
NM_000051.4(ATM):c.1899-7C>A	rs1060501584
NM_000051.4(ATM):c.193C>T (p.Gln65Ter)	rs775248597
NM_000051.4(ATM):c.2112T>C (p.Asn704=)	rs2080317012
NM_000051.4(ATM):c.2125-14T>C	rs2497354726
NM_000051.4(ATM):c.2193C>A (p.Tyr731Ter)	rs2229019
NM_000051.4(ATM):c.2284_2285del (p.Leu762fs)	rs587781658
NM_000051.4(ATM):c.2307G>A (p.Glu769=)	rs1233133144
NM_000051.4(ATM):c.2467-8C>G	rs1425701157
NM_000051.4(ATM):c.2638+1G>T	rs2135509713
NM_000051.4(ATM):c.2638+2T>C	rs587779826
NM_000051.4(ATM):c.2805G>C (p.Thr935=)	rs55934812
NM_000051.4(ATM):c.2806_2809dup (p.Glu937fs)	rs757237504
NM_000051.4(ATM):c.2838+1G>A	rs1555083469
NM_000051.4(ATM):c.2838+1G>T	rs1555083469
NM_000051.4(ATM):c.2839-1G>A	rs995271490
NM_000051.4(ATM):c.2880del (p.Leu961fs)	rs730881300
NM_000051.4(ATM):c.2921+1G>A	rs587781558
NM_000051.4(ATM):c.2952A>G (p.Gln984=)	rs1476499901
NM_000051.4(ATM):c.2985_2988del (p.Leu995_His996insTer)	rs1060501600
NM_000051.4(ATM):c.3064A>T (p.Ile1022Phe)	rs786202470
NM_000051.4(ATM):c.3154-4G>A	rs199543313
NM_000051.4(ATM):c.3198del (p.Asp1067fs)	rs2497722065
NM_000051.4(ATM):c.324A>G (p.Ala108=)	rs2135038430
NM_000051.4(ATM):c.3258C>T (p.Arg1086=)	rs773277362
NM_000051.4(ATM):c.3284+3A>G	rs1591610398
NM_000051.4(ATM):c.3285-8G>A	rs1469259085
NM_000051.4(ATM):c.331+5G>A	rs752135143
NM_000051.4(ATM):c.3381_3384del (p.Gln1128fs)	rs587781971
NM_000051.4(ATM):c.3402+1G>A	rs1565439606
NM_000051.4(ATM):c.3403-4T>C	rs1591636158
NM_000051.4(ATM):c.3422del (p.Pro1141fs)	rs2546869322
NM_000051.4(ATM):c.3510dup (p.Gln1171fs)	rs876658899
NM_000051.4(ATM):c.3539_3540del (p.Val1180fs)	rs1555091367
NM_000051.4(ATM):c.3747-10C>T	rs775274473
NM_000051.4(ATM):c.3747-1G>T	rs730881364
NM_000051.4(ATM):c.3758_3759del (p.Lys1253fs)	rs2135704536
NM_000051.4(ATM):c.3886C>T (p.Pro1296Ser)	rs864622654
NM_000051.4(ATM):c.398A>T (p.Asn133Ile)	rs730881330
NM_000051.4(ATM):c.3993+4T>C	rs2082390512
NM_000051.4(ATM):c.3993+6G>T	rs878853508
NM_000051.4(ATM):c.4019_4029del (p.Leu1340fs)	rs1057517140
NM_000051.4(ATM):c.4080_4083del (p.Ser1360fs)	rs2546898624
NM_000051.4(ATM):c.4109+5G>A	rs2082568277
NM_000051.4(ATM):c.4149G>C (p.Ser1383=)	rs749180334
NM_000051.4(ATM):c.4358_4359del (p.Ile1453fs)	rs1555097650
NM_000051.4(ATM):c.4370T>G (p.Leu1457Ter)	rs373226793
NM_000051.4(ATM):c.4458G>A (p.Val1486=)	rs1591673788
NM_000051.4(ATM):c.4493_4497del (p.Leu1498fs)	rs2546924717
NM_000051.4(ATM):c.4591C>T (p.Gln1531Ter)	rs2082872908
NM_000051.4(ATM):c.4625dup (p.Leu1542fs)	rs730881304
NM_000051.4(ATM):c.4661del (p.Asn1554fs)	rs1064793390
NM_000051.4(ATM):c.4741dup (p.Ile1581fs)	rs864622164
NM_000051.4(ATM):c.475del (p.Ile159fs)	rs1555059464
NM_000051.4(ATM):c.4776+2_4776+13del	rs762838462
NM_000051.4(ATM):c.478_482del (p.Ser160fs)	rs587780624
NM_000051.4(ATM):c.4804_4805del (p.Val1602fs)	rs864622290
NM_000051.4(ATM):c.4906C>T (p.Gln1636Ter)	rs1060501627
NM_000051.4(ATM):c.4909+8T>C	rs2135838639
NM_000051.4(ATM):c.495_496+16del	rs1555059522
NM_000051.4(ATM):c.496+5G>A	rs796051858
NM_000051.4(ATM):c.496G>T (p.Glu166Ter)	rs1565357473
NM_000051.4(ATM):c.50_51del (p.His17fs)	rs775561876
NM_000051.4(ATM):c.513C>T (p.Tyr171=)	rs786201693
NM_000051.4(ATM):c.5177+5G>A	rs759373136
NM_000051.4(ATM):c.5288_5298del (p.Tyr1763fs)	rs2135914733
NM_000051.4(ATM):c.5475A>G (p.Gln1825=)	rs1555106560
NM_000051.4(ATM):c.5497-2A>C	rs786203796
NM_000051.4(ATM):c.5631_5635delinsA (p.Phe1877fs)	rs758852420
NM_000051.4(ATM):c.5675-4T>A	rs56075338
NM_000051.4(ATM):c.5675-7_5675-4del	rs1189695629
NM_000051.4(ATM):c.5712dup (p.Ser1905fs)	rs587781730
NM_000051.4(ATM):c.5762+1G>T	rs869312756
NM_000051.4(ATM):c.5791delinsCCT (p.Ala1931fs)	rs587779851
NM_000051.4(ATM):c.5839del (p.Ser1947fs)	rs2136015541
NM_000051.4(ATM):c.5841T>C (p.Ser1947=)	rs2084031312
NM_000051.4(ATM):c.5890A>T (p.Lys1964Ter)	rs201963507
NM_000051.4(ATM):c.5893_5897del (p.Lys1965fs)	rs587781727
NM_000051.4(ATM):c.6047A>G (p.Asp2016Gly)	rs587781302
NM_000051.4(ATM):c.6095+4A>G	rs1555113632
NM_000051.4(ATM):c.6096-3T>C	rs748380897
NM_000051.4(ATM):c.6096-9_6096-5del	rs879254095
NM_000051.4(ATM):c.6115G>A (p.Glu2039Lys)	rs864622251
NM_000051.4(ATM):c.6198+3A>G	rs786202092
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp)	rs397514577
NM_000051.4(ATM):c.6272G>A (p.Trp2091Ter)	rs1060501712
NM_000051.4(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer)	rs587782554
NM_000051.4(ATM):c.6450C>T (p.Ala2150=)	rs2136222693
NM_000051.4(ATM):c.648T>A (p.Ala216=)	rs770270310
NM_000051.4(ATM):c.6526_6532del (p.Leu2176fs)	rs2085199149
NM_000051.4(ATM):c.652C>T (p.Gln218Ter)	rs1555066551
NM_000051.4(ATM):c.6671dup (p.Met2224fs)	rs2547202550
NM_000051.4(ATM):c.6672_6680delinsCTC (p.Met2224_Arg2227delinsIleSer)	rs1591129041
NM_000051.4(ATM):c.6727C>T (p.Gln2243Ter)	rs1565518711
NM_000051.4(ATM):c.7000_7003del (p.Tyr2334fs)	rs786203421
NM_000051.4(ATM):c.7089+7T>G	rs1404350048
NM_000051.4(ATM):c.7096G>T (p.Glu2366Ter)	rs587781672
NM_000051.4(ATM):c.709dup (p.Thr237fs)	rs2079758064
NM_000051.4(ATM):c.710del (p.Thr237fs)	rs1060501642
NM_000051.4(ATM):c.7181C>T (p.Ser2394Leu)	rs587779861
NM_000051.4(ATM):c.7201del (p.Ile2401fs)	rs2547249026
NM_000051.4(ATM):c.7235A>G (p.Asn2412Ser)	rs786203311
NM_000051.4(ATM):c.7307G>A (p.Arg2436Lys)	rs786203394
NM_000051.4(ATM):c.7308-10T>G	rs745319720
NM_000051.4(ATM):c.7368A>G (p.Lys2456=)	rs2136455679
NM_000051.4(ATM):c.7605A>G (p.Leu2535=)	rs1591167954
NM_000051.4(ATM):c.7630-2A>G	rs587779866
NM_000051.4(ATM):c.7647A>T (p.Ser2549=)	rs1591171175
NM_000051.4(ATM):c.7705_7706del (p.Arg2568_Asp2569insTer)	rs759965045
NM_000051.4(ATM):c.7750dup (p.Thr2584fs)	rs2547285601
NM_000051.4(ATM):c.7767del (p.Lys2589fs)	rs1057517025
NM_000051.4(ATM):c.7788+1G>C	rs1565534524
NM_000051.4(ATM):c.7788G>A (p.Glu2596=)	rs587780639
NM_000051.4(ATM):c.7789-3T>G	rs864622185
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro)	rs267606668
NM_000051.4(ATM):c.7928-3C>T	rs1555126153
NM_000051.4(ATM):c.7928-8A>G	rs2086542058
NM_000051.4(ATM):c.7985T>A (p.Val2662Asp)	rs863224463
NM_000051.4(ATM):c.8103_8104del (p.Ile2702fs)	rs1064793406
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn)	rs587782719
NM_000051.4(ATM):c.8151+3G>A	rs760065522
NM_000051.4(ATM):c.8152-1G>C	rs1398616877
NM_000051.4(ATM):c.8185C>T (p.Gln2729Ter)	rs587781967
NM_000051.4(ATM):c.8240dup (p.Arg2748fs)	rs1591199097
NM_000051.4(ATM):c.8305del (p.Trp2769fs)	rs2547415915
NM_000051.4(ATM):c.8373C>A (p.Tyr2791Ter)	rs1060504292
NM_000051.4(ATM):c.8373del (p.Arg2790_Tyr2791insTer)	rs2136949935
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs)	rs786202800
NM_000051.4(ATM):c.8416_8418+5del	rs1591249480
NM_000051.4(ATM):c.8419-7_8419-4del	rs730881306
NM_000051.4(ATM):c.8480T>G (p.Phe2827Cys)	rs121434216
NM_000051.4(ATM):c.8495G>T (p.Arg2832Leu)	rs529296539
NM_000051.4(ATM):c.8565T>A (p.Ser2855Arg)	rs780905851
NM_000051.4(ATM):c.8615_8616del (p.His2872fs)	rs1232259438
NM_000051.4(ATM):c.8622_8624delinsTT (p.Gln2874fs)	rs2547461386
NM_000051.4(ATM):c.8637T>C (p.Asn2879=)	rs1271340128
NM_000051.4(ATM):c.8659C>G (p.His2887Asp)	rs1591274530
NM_000051.4(ATM):c.8786+10A>G	rs1591307673
NM_000051.4(ATM):c.8787-6C>T	rs1591313765
NM_000051.4(ATM):c.8876_8879del (p.Asp2959fs)	rs786204726
NM_000051.4(ATM):c.8925_8928dup (p.Glu2977delinsArgTer)	rs1555151395
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter)	rs770641163
NM_000051.4(ATM):c.8987+5G>C	rs876660570
NM_000051.4(ATM):c.9079dup (p.Ser3027fs)	rs587780645
NM_000051.4(ATM):c.9103C>T (p.Leu3035Phe)	rs866769874
NM_000052.7(ATP7A):c.1874T>G (p.Leu625Ter)	rs797045339
NM_000052.7(ATP7A):c.1947-3_1948dup	rs2522349526
NM_000052.7(ATP7A):c.3943G>A (p.Gly1315Arg)	rs797045390
NM_000052.7(ATP7A):c.422_423del (p.Glu141fs)	rs797045397
NM_000052.7(ATP7A):c.601C>T (p.Arg201Ter)	rs151340633
NM_000053.4(ATP7B):c.-123_-119dupCGCCG	rs148013251
NM_000053.4(ATP7B):c.1063C>T (p.Gln355Ter)	rs778490238
NM_000053.4(ATP7B):c.1092C>G (p.Ala364=)	rs1482077950
NM_000053.4(ATP7B):c.1216T>A (p.Ser406Thr)	rs1801243
NM_000053.4(ATP7B):c.1475T>C (p.Leu492Ser)	rs1566580253
NM_000053.4(ATP7B):c.1512dup (p.Asn505Ter)	rs1057516418
NM_000053.4(ATP7B):c.1520_1523del (p.Glu507fs)	rs772000260
NM_000053.4(ATP7B):c.1543+1G>T	rs1360279134
NM_000053.4(ATP7B):c.1544-2A>G	rs1555294398
NM_000053.4(ATP7B):c.1595A>G (p.Tyr532Cys)	rs375071383
NM_000053.4(ATP7B):c.1639C>T (p.Gln547Ter)	rs996419100
NM_000053.4(ATP7B):c.1649del (p.Gly550fs)	rs2139890297
NM_000053.4(ATP7B):c.1707+1G>A	rs377001615
NM_000053.4(ATP7B):c.1707+2dup	rs781531824
NM_000053.4(ATP7B):c.1716del (p.Gly572_Met573insTer)	rs1057516893
NM_000053.4(ATP7B):c.1739del (p.His580fs)	rs1555293357
NM_000053.4(ATP7B):c.1745_1746del (p.Ile582fs)	rs753962912
NM_000053.4(ATP7B):c.174dup (p.Thr59fs)	rs1057516561
NM_000053.4(ATP7B):c.1782del (p.Thr593_Tyr594insTer)	rs780327716
NM_000053.4(ATP7B):c.1807A>T (p.Lys603Ter)
NM_000053.4(ATP7B):c.1869+2T>C	rs2139767694
NM_000053.4(ATP7B):c.1901G>A (p.Arg634Lys)
NM_000053.4(ATP7B):c.1924G>T (p.Asp642Tyr)	rs72552285
NM_000053.4(ATP7B):c.1946+2T>C
NM_000053.4(ATP7B):c.1949G>A (p.Trp650Ter)	rs375542827
NM_000053.4(ATP7B):c.1965G>A (p.Leu655=)	rs574041847
NM_000053.4(ATP7B):c.1968C>T (p.Cys656=)	rs2139611953
NM_000053.4(ATP7B):c.2009_2015del (p.Ile669_Tyr670insTer)	rs779904655
NM_000053.4(ATP7B):c.2071G>A (p.Gly691Arg)	rs121908001
NM_000053.4(ATP7B):c.208C>T (p.Gln70Ter)	rs2547825108
NM_000053.4(ATP7B):c.2121+1G>A	rs751235573
NM_000053.4(ATP7B):c.2121+1G>T	rs751235573
NM_000053.4(ATP7B):c.2121+3A>G	rs1248002612
NM_000053.4(ATP7B):c.2122-1G>A	rs1319653818
NM_000053.4(ATP7B):c.2122-4T>C	rs2547716724
NM_000053.4(ATP7B):c.2124C>A (p.Leu708=)	rs779988850
NM_000053.4(ATP7B):c.2129G>C (p.Gly710Ala)	rs1555291285
NM_000053.4(ATP7B):c.2131G>A (p.Gly711Arg)	rs1394999756
NM_000053.4(ATP7B):c.2204T>G (p.Leu735Arg)	rs2547715854
NM_000053.4(ATP7B):c.2227del (p.Tyr743fs)	rs1958499462
NM_000053.4(ATP7B):c.2241C>A (p.Ile747=)	rs757991922
NM_000053.4(ATP7B):c.2303C>T (p.Pro768Leu)	rs1057516844
NM_000053.4(ATP7B):c.2304dup (p.Met769fs)	rs137853287
NM_000053.4(ATP7B):c.2332C>G (p.Arg778Gly)	rs137853284
NM_000053.4(ATP7B):c.2356-2A>G	rs2139505830
NM_000053.4(ATP7B):c.2356-9A>G	rs1339073174
NM_000053.4(ATP7B):c.2394C>G (p.Leu798=)	rs758690020
NM_000053.4(ATP7B):c.2395C>T (p.Gln799Ter)
NM_000053.4(ATP7B):c.2428G>T (p.Glu810Ter)	rs770020484
NM_000053.4(ATP7B):c.2447+1G>T	rs1958431105
NM_000053.4(ATP7B):c.2447+8_2447+9insAA	rs746283578
NM_000053.4(ATP7B):c.2513del (p.Lys838fs)	rs777362050
NM_000053.4(ATP7B):c.2526T>C (p.Asp842=)	rs2547673633
NM_000053.4(ATP7B):c.2532del (p.Val845fs)	rs755709270
NM_000053.4(ATP7B):c.2558A>G (p.Asp853Gly)	rs752634617
NM_000053.4(ATP7B):c.2575+1G>A	rs766149114
NM_000053.4(ATP7B):c.2588del (p.Pro863fs)	rs2139212289
NM_000053.4(ATP7B):c.258C>T (p.Ile86=)	rs2140109665
NM_000053.4(ATP7B):c.2620G>C (p.Ala874Pro)	rs376355660
NM_000053.4(ATP7B):c.2634T>G (p.Asn878Lys)	rs2547671027
NM_000053.4(ATP7B):c.2662A>C (p.Thr888Pro)	rs1455758826
NM_000053.4(ATP7B):c.2681C>T (p.Thr894Ile)	rs1340729837
NM_000053.4(ATP7B):c.2697_2723del (p.Ile899_Gln907del)	rs2139201690
NM_000053.4(ATP7B):c.2731G>A (p.Ala911Thr)	rs2547667619
NM_000053.4(ATP7B):c.2732C>T (p.Ala911Val)	rs1014184765
NM_000053.4(ATP7B):c.2752G>A (p.Asp918Asn)	rs540935874
NM_000053.4(ATP7B):c.2755C>T (p.Arg919Trp)	rs121907993
NM_000053.4(ATP7B):c.2784CAT[2] (p.Ile930del)	rs1228359983
NM_000053.4(ATP7B):c.2817G>C (p.Trp939Cys)	rs1057517310
NM_000053.4(ATP7B):c.2817G>T (p.Trp939Cys)	rs1057517310
NM_000053.4(ATP7B):c.2962G>C (p.Gly988Arg)	rs199623434
NM_000053.4(ATP7B):c.2971_2973delinsGCA (p.Thr991Ala)
NM_000053.4(ATP7B):c.2976C>A (p.Pro992=)	rs746358240
NM_000053.4(ATP7B):c.2987T>C (p.Met996Thr)	rs770782111
NM_000053.4(ATP7B):c.2998G>C (p.Gly1000Arg)	rs751078884
NM_000053.4(ATP7B):c.2999G>T (p.Gly1000Val)	rs1957653671
NM_000053.4(ATP7B):c.3029A>C (p.Lys1010Thr)	rs747584649
NM_000053.4(ATP7B):c.3029A>G (p.Lys1010Arg)	rs747584649
NM_000053.4(ATP7B):c.3061-12T>A	rs1045194246
NM_000053.4(ATP7B):c.3062T>A (p.Ile1021Lys)	rs949421614
NM_000053.4(ATP7B):c.3086C>T (p.Thr1029Ile)	rs1555286628
NM_000053.4(ATP7B):c.3088G>A (p.Gly1030Ser)	rs1957518268
NM_000053.4(ATP7B):c.3147del (p.Thr1050fs)	rs762031690
NM_000053.4(ATP7B):c.314C>A (p.Ser105Ter)	rs753236073
NM_000053.4(ATP7B):c.3155C>T (p.Pro1052Leu)	rs778543794
NM_000053.4(ATP7B):c.3200G>A (p.Ser1067Asn)	rs2085422358
NM_000053.4(ATP7B):c.3220G>A (p.Ala1074Thr)	rs1196142320
NM_000053.4(ATP7B):c.3234C>G (p.Tyr1078Ter)
NM_000053.4(ATP7B):c.3244-2A>G	rs786204584
NM_000053.4(ATP7B):c.3247C>T (p.Leu1083Phe)	rs1286080173
NM_000053.4(ATP7B):c.3266G>A (p.Gly1089Glu)	rs1555285911
NM_000053.4(ATP7B):c.3283del (p.Gln1095fs)	rs764108297
NM_000053.4(ATP7B):c.3284A>C (p.Gln1095Pro)	rs1555285891
NM_000053.4(ATP7B):c.3284A>G (p.Gln1095Arg)	rs1555285891
NM_000053.4(ATP7B):c.3301G>A (p.Gly1101Arg)	rs786204483
NM_000053.4(ATP7B):c.3412+1G>A	rs1957388064
NM_000053.4(ATP7B):c.3413-9T>C	rs2547601875
NM_000053.4(ATP7B):c.3419del (p.Val1140fs)
NM_000053.4(ATP7B):c.3436G>A (p.Val1146Met)	rs1213481140
NM_000053.4(ATP7B):c.3446G>C (p.Gly1149Ala)	rs1566462533
NM_000053.4(ATP7B):c.3452G>A (p.Arg1151His)	rs377297166
NM_000053.4(ATP7B):c.3529C>T (p.Gln1177Ter)	rs1057516479
NM_000053.4(ATP7B):c.360C>T (p.Gly120=)	rs1952028232
NM_000053.4(ATP7B):c.3624G>T (p.Thr1208=)	rs377267217
NM_000053.4(ATP7B):c.3638G>T (p.Gly1213Val)	rs1555284582
NM_000053.4(ATP7B):c.3649_3654del (p.Val1217_Leu1218del)	rs781266802
NM_000053.4(ATP7B):c.3659C>T (p.Thr1220Met)	rs193922107
NM_000053.4(ATP7B):c.365_366delinsGGGCTTCGAA (p.Glu122fs)	rs2547823465
NM_000053.4(ATP7B):c.3662G>A (p.Gly1221Glu)	rs1486594906
NM_000053.4(ATP7B):c.3664dup (p.Asp1222fs)	rs886042519
NM_000053.4(ATP7B):c.3693_3697delinsTCTGGTACATTAACATTAA (p.Thr1232_Gln1233delinsLeuValHisTer)	rs1957151127
NM_000053.4(ATP7B):c.3715G>T (p.Val1239Phe)
NM_000053.4(ATP7B):c.3756C>T (p.Val1252=)	rs1395442643
NM_000053.4(ATP7B):c.3800A>C (p.Asp1267Ala)	rs1555283916
NM_000053.4(ATP7B):c.3832G>A (p.Ala1278Thr)
NM_000053.4(ATP7B):c.3833C>T (p.Ala1278Val)	rs1375884723
NM_000053.4(ATP7B):c.3836A>G (p.Asp1279Gly)	rs778914828
NM_000053.4(ATP7B):c.3862A>C (p.Thr1288Pro)	rs1257330000
NM_000053.4(ATP7B):c.3895C>T (p.Leu1299Phe)	rs749472361
NM_000053.4(ATP7B):c.3895del (p.Ile1300fs)	rs1957038706
NM_000053.4(ATP7B):c.3971A>G (p.Asn1324Ser)	rs760285767
NM_000053.4(ATP7B):c.4003G>C (p.Gly1335Arg)
NM_000053.4(ATP7B):c.4014T>A (p.Ile1338=)	rs762097856
NM_000053.4(ATP7B):c.4021+1G>A	rs2547563651
NM_000053.4(ATP7B):c.4063G>A (p.Gly1355Ser)	rs1555282751
NM_000053.4(ATP7B):c.4088C>T (p.Ser1363Phe)	rs776848753
NM_000053.4(ATP7B):c.4092_4093del (p.Ser1365fs)	rs771603301
NM_000053.4(ATP7B):c.4112T>C (p.Leu1371Pro)	rs1444841250
NM_000053.4(ATP7B):c.4125-1G>C	rs1293549383
NM_000053.4(ATP7B):c.4125-2A>G	rs1555282347
NM_000053.4(ATP7B):c.4195C>T (p.Gln1399Ter)	rs2138407151
NM_000053.4(ATP7B):c.49delA (p.Ile18fs)
NM_000053.4(ATP7B):c.51dup	rs1954023351
NM_000053.4(ATP7B):c.524_525del (p.Lys175fs)	rs558037268
NM_000053.4(ATP7B):c.682C>T (p.Gln228Ter)
NM_000053.4(ATP7B):c.690T>C (p.Thr230=)	rs1033565003
NM_000053.4(ATP7B):c.697_698del (p.Lys233fs)	rs1023530194
NM_000053.4(ATP7B):c.71del (p.Leu24fs)	rs2547826388
NM_000053.4(ATP7B):c.778dup (p.Gln260fs)	rs786204570
NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter)	rs572147914
NM_000053.4(ATP7B):c.841del (p.Gln281fs)	rs1952001328
NM_000053.4(ATP7B):c.954T>C (p.Leu318=)	rs1210454309
NM_000053.4(ATP7B):c.956del (p.Pro319fs)	rs753674382
NM_000057.4(BLM):c.1011A>G (p.Thr337=)	rs773511833
NM_000057.4(BLM):c.1080C>T (p.Asp360=)
NM_000057.4(BLM):c.1087+2T>C	rs2505407634
NM_000057.4(BLM):c.1090A>T (p.Arg364Ter)	rs1567040469
NM_000057.4(BLM):c.1220+3A>G	rs1429490877
NM_000057.4(BLM):c.1220G>C (p.Arg407Thr)	rs1350192744
NM_000057.4(BLM):c.1316del (p.Met439fs)	rs1555419829
NM_000057.4(BLM):c.1361del (p.Asn454fs)	rs2151158091
NM_000057.4(BLM):c.1398G>A (p.Gly466=)	rs1596229756
NM_000057.4(BLM):c.1479_1480del (p.Thr494fs)	rs746244182
NM_000057.4(BLM):c.1544dup (p.Asn515fs)	rs367543043
NM_000057.4(BLM):c.1764_1777del (p.Lys588fs)	rs1057516956
NM_000057.4(BLM):c.1845A>G (p.Gln615=)	rs1369156586
NM_000057.4(BLM):c.1865C>G (p.Ser622Ter)	rs2505429817
NM_000057.4(BLM):c.1921del (p.His641fs)	rs2505434577
NM_000057.4(BLM):c.1956A>C (p.Thr652=)	rs1567042229
NM_000057.4(BLM):c.2005A>T (p.Arg669Ter)	rs1596232266
NM_000057.4(BLM):c.2028C>T (p.Ile676=)	rs2151160730
NM_000057.4(BLM):c.2091G>A (p.Leu697=)	rs2151162344
NM_000057.4(BLM):c.213_214del (p.Ser72fs)	rs960430492
NM_000057.4(BLM):c.2169A>G (p.Gln723=)	rs781635047
NM_000057.4(BLM):c.2187del (p.Leu730fs)	rs2505441922
NM_000057.4(BLM):c.2193+1G>A	rs865866188
NM_000057.4(BLM):c.2193+1_2193+9del	rs1060500652
NM_000057.4(BLM):c.2205A>G (p.Thr735=)	rs757134420
NM_000057.4(BLM):c.2268del (p.Asp757fs)	rs747341586
NM_000057.4(BLM):c.2291_2292del (p.Tyr764fs)	rs1555420602
NM_000057.4(BLM):c.2349_2350del (p.Leu783_Tyr784insTer)	rs1555420844
NM_000057.4(BLM):c.2391A>G (p.Ala797=)	rs759934623
NM_000057.4(BLM):c.2407-7del	rs769184675
NM_000057.4(BLM):c.2407dup (p.Trp803fs)	rs367543012
NM_000057.4(BLM):c.2456del (p.Gln819fs)	rs2505456660
NM_000057.4(BLM):c.253del (p.Arg85fs)
NM_000057.4(BLM):c.2672G>A (p.Gly891Glu)	rs763471784
NM_000057.4(BLM):c.2801G>A (p.Trp934Ter)	rs1896712163
NM_000057.4(BLM):c.2824-7A>G	rs374616797
NM_000057.4(BLM):c.2835T>C (p.Ala945=)	rs2505515920
NM_000057.4(BLM):c.2874G>A (p.Val958=)	rs2151184510
NM_000057.4(BLM):c.2875C>T (p.Arg959Ter)	rs762354041
NM_000057.4(BLM):c.2889T>C (p.His963=)	rs2505516319
NM_000057.4(BLM):c.28C>T (p.Gln10Ter)	rs776826506
NM_000057.4(BLM):c.2923C>T (p.Gln975Ter)	rs757148522
NM_000057.4(BLM):c.298_299del (p.Gln100fs)	rs745807085
NM_000057.4(BLM):c.299dup (p.Arg101fs)	rs768777000
NM_000057.4(BLM):c.3039T>C (p.His1013=)	rs747406569
NM_000057.4(BLM):c.3079_3080del (p.Val1027fs)	rs2505524868
NM_000057.4(BLM):c.3145G>T (p.Gly1049Ter)	rs1188753950
NM_000057.4(BLM):c.3164G>A (p.Cys1055Tyr)	rs367543029
NM_000057.4(BLM):c.320dup (p.Leu107fs)	rs781221411
NM_000057.4(BLM):c.3242T>G (p.Val1081Gly)	rs762716289
NM_000057.4(BLM):c.3358+9T>A
NM_000057.4(BLM):c.3416G>C (p.Arg1139Pro)	rs771776126
NM_000057.4(BLM):c.3437_3438del (p.Leu1145_Phe1146insTer)	rs770592505
NM_000057.4(BLM):c.3519C>A (p.Leu1173=)	rs769119431
NM_000057.4(BLM):c.3569delinsAA (p.Met1190fs)	rs1567063125
NM_000057.4(BLM):c.357_358del (p.Cys120fs)	rs748186908
NM_000057.4(BLM):c.3611T>G (p.Leu1204Ter)	rs2505549800
NM_000057.4(BLM):c.3646A>T (p.Lys1216Ter)	rs2151194897
NM_000057.4(BLM):c.3678C>A (p.Cys1226Ter)	rs1897236255
NM_000057.4(BLM):c.3751+10C>G	rs199685140
NM_000057.4(BLM):c.3847C>T (p.Gln1283Ter)	rs367543031
NM_000057.4(BLM):c.3876T>C (p.Ala1292=)	rs1596273405
NM_000057.4(BLM):c.441T>G (p.Ser147=)
NM_000057.4(BLM):c.570G>A (p.Lys190=)	rs2151147630
NM_000057.4(BLM):c.581_582del (p.Phe193_Phe194insTer)	rs367543026
NM_000057.4(BLM):c.582del (p.Phe194fs)	rs367543026
NM_000057.4(BLM):c.709del (p.Cys237fs)	rs1217879599
NM_000057.4(BLM):c.772_773del (p.Leu258fs)	rs367543013
NM_000057.4(BLM):c.98+1G>A	rs750293380
NM_000057.4(BLM):c.98+1G>T	rs750293380
NM_000057.4(BLM):c.99-1G>T	rs897262346
NM_000057.4(BLM):c.99-9_99-7del	rs1229333064
NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del)	rs863224965
NM_000070.3(CAPN3):c.1002C>T (p.His334=)	rs374833797
NM_000070.3(CAPN3):c.1006T>G (p.Tyr336Asp)	rs745967703
NM_000070.3(CAPN3):c.1027G>T (p.Glu343Ter)	rs766334893
NM_000070.3(CAPN3):c.1030-4T>C	rs2141180641
NM_000070.3(CAPN3):c.1076C>T (p.Pro359Leu)	rs794727895
NM_000070.3(CAPN3):c.1115+2T>C	rs1057524468
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg)	rs775453643
NM_000070.3(CAPN3):c.1127G>A (p.Trp376Ter)	rs1555421524
NM_000070.3(CAPN3):c.1251G>A (p.Thr417=)	rs151090625
NM_000070.3(CAPN3):c.1293G>A (p.Val431=)	rs1009544440
NM_000070.3(CAPN3):c.1309C>G (p.Arg437Gly)	rs777483913
NM_000070.3(CAPN3):c.1327T>C (p.Ser443Pro)	rs1595834751
NM_000070.3(CAPN3):c.1333G>A (p.Gly445Arg)	rs773827877
NM_000070.3(CAPN3):c.1342C>G (p.Arg448Gly)	rs776043976
NM_000070.3(CAPN3):c.1368C>G (p.Thr456=)	rs2053872326
NM_000070.3(CAPN3):c.1375C>T (p.Gln459Ter)	rs773631149
NM_000070.3(CAPN3):c.1395GGA[2] (p.Glu467del)	rs746075428
NM_000070.3(CAPN3):c.1456C>T (p.Gln486Ter)	rs2141199686
NM_000070.3(CAPN3):c.1674C>T (p.Pro558=)	rs1205096877
NM_000070.3(CAPN3):c.1782+1072G>C	rs2053974373
NM_000070.3(CAPN3):c.1823G>A (p.Arg608Lys)	rs2548287787
NM_000070.3(CAPN3):c.1884A>C (p.Thr628=)	rs1595844400
NM_000070.3(CAPN3):c.1896G>A (p.Lys632=)	rs746786954
NM_000070.3(CAPN3):c.1897C>T (p.Gln633Ter)	rs1595844413
NM_000070.3(CAPN3):c.2148G>A (p.Glu716=)	rs770894443
NM_000070.3(CAPN3):c.2148G>T (p.Glu716Asp)	rs770894443
NM_000070.3(CAPN3):c.2162G>A (p.Trp721Ter)	rs774048414
NM_000070.3(CAPN3):c.222T>G (p.Leu74=)	rs551850600
NM_000070.3(CAPN3):c.229G>A (p.Asp77Asn)	rs2141102703
NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp)	rs868791726
NM_000070.3(CAPN3):c.2380+2T>G	rs761935462
NM_000070.3(CAPN3):c.2381-2A>G	rs863224962
NM_000070.3(CAPN3):c.309+4A>C	rs1566966120
NM_000070.3(CAPN3):c.327_328dup (p.Arg110fs)	rs797045427
NM_000070.3(CAPN3):c.346del (p.Ala116fs)	rs2548252750
NM_000070.3(CAPN3):c.367C>A (p.Gln123Lys)	rs886043437
NM_000070.3(CAPN3):c.397G>A (p.Ala133Thr)	rs946415346
NM_000070.3(CAPN3):c.433del (p.Leu145fs)	rs2141160577
NM_000070.3(CAPN3):c.46G>A (p.Glu16Lys)	rs772580081
NM_000070.3(CAPN3):c.496del (p.Gln166fs)	rs2548255981
NM_000070.3(CAPN3):c.537T>C (p.Asp179=)	rs2141164696
NM_000070.3(CAPN3):c.550del (p.Thr184fs)	rs80338800
NM_000070.3(CAPN3):c.590G>A (p.Arg197His)	rs768426565
NM_000070.3(CAPN3):c.608C>G (p.Ala203Gly)	rs763719290
NM_000070.3(CAPN3):c.632+4A>G	rs1555420507
NM_000070.3(CAPN3):c.632+8A>G	rs2053447422
NM_000070.3(CAPN3):c.66A>G (p.Pro22=)	rs2548224613
NM_000070.3(CAPN3):c.701G>A (p.Gly234Glu)	rs1555420634
NM_000070.3(CAPN3):c.727_730delinsAT (p.Asp243fs)	rs1555420642
NM_000070.3(CAPN3):c.791G>A (p.Cys264Tyr)	rs2053485296
NM_000070.3(CAPN3):c.864A>G (p.Ala288=)	rs1555420768
NM_000070.3(CAPN3):c.945+5G>A	rs773547765
NM_000070.3(CAPN3):c.946-1_948del	rs766156798
NM_000070.3(CAPN3):c.946-8C>G	rs2548265491
NM_000070.3(CAPN3):c.946-9_946-5del	rs758101156
NM_000071.2(CBS):c.832_833insCTGGGGGGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGTGCCCTCTGCAGATCA
NM_000071.3(CBS):c.1007G>C (p.Arg336Pro)	rs760417941
NM_000071.3(CBS):c.1071C>T (p.Ala357=)	rs368206976
NM_000071.3(CBS):c.1146-6C>T	rs1981696579
NM_000071.3(CBS):c.1265C>T (p.Pro422Leu)	rs28934892
NM_000071.3(CBS):c.1321A>T (p.Lys441Ter)	rs1057516645
NM_000071.3(CBS):c.1358+1G>A	rs786204679
NM_000071.3(CBS):c.1359-1G>C	rs865990681
NM_000071.3(CBS):c.1359-9G>C	rs202137317
NM_000071.3(CBS):c.1566del (p.Lys523fs)	rs786204466
NM_000071.3(CBS):c.1576C>A (p.Gln526Lys)	rs1555869958
NM_000071.3(CBS):c.162G>A (p.Trp54Ter)	rs199948079
NM_000071.3(CBS):c.210-1G>C	rs2146414477
NM_000071.3(CBS):c.302T>C (p.Leu101Pro)	rs786204757
NM_000071.3(CBS):c.346G>A (p.Gly116Arg)	rs760214620
NM_000071.3(CBS):c.359A>G (p.Asp120Gly)	rs1982750491
NM_000071.3(CBS):c.402del (p.Thr135fs)	rs1057517083
NM_000071.3(CBS):c.429C>G (p.Ile143Met)	rs370167302
NM_000071.3(CBS):c.430G>C (p.Glu144Gln)	rs121964966
NM_000071.3(CBS):c.434C>T (p.Pro145Leu)	rs121964963
NM_000071.3(CBS):c.456C>G (p.Ile152Met)	rs769438280
NM_000071.3(CBS):c.457G>A (p.Gly153Arg)	rs745704046
NM_000071.3(CBS):c.493T>G (p.Cys165Gly)	rs1234354755
NM_000071.3(CBS):c.504G>A (p.Val168=)	rs1982608863
NM_000071.3(CBS):c.536_553del (p.Asp179_Leu184del)	rs794727835
NM_000071.3(CBS):c.612G>T (p.Val204=)	rs539670390
NM_000071.3(CBS):c.667-14_667-7del	rs764160782
NM_000071.3(CBS):c.676G>A (p.Ala226Thr)	rs763835246
NM_000071.3(CBS):c.683A>G (p.Asn228Ser)	rs1555874803
NM_000071.3(CBS):c.694C>G (p.His232Asp)	rs1982504069
NM_000071.3(CBS):c.738del	rs766453711
NM_000071.3(CBS):c.740_769del (p.Lys247_Gly256del)	rs2517436960
NM_000071.3(CBS):c.752T>C (p.Leu251Pro)	rs1176770868
NM_000071.3(CBS):c.816T>A (p.Cys272Ter)	rs528689432
NM_000071.3(CBS):c.825C>T (p.Cys275=)	rs764638041
NM_000071.3(CBS):c.829-8C>G	rs750081937
NM_000071.3(CBS):c.862G>A (p.Ala288Thr)	rs141502207
NM_000071.3(CBS):c.869C>T (p.Pro290Leu)	rs760912339
NM_000071.3(CBS):c.904G>A (p.Glu302Lys)	rs779270933
NM_000071.3(CBS):c.949A>G (p.Arg317Gly)	rs775432669
NM_000071.3(CBS):c.954+1G>A	rs1057517373
NM_000071.3(CBS):c.992C>A (p.Ala331Glu)	rs777919630
NM_000080.4(CHRNE):c.1072_1091del (p.Pro358fs)	rs932032926
NM_000080.4(CHRNE):c.1116_1128del (p.Ser373fs)	rs1398583523
NM_000080.4(CHRNE):c.115dup (p.Ser39fs)	rs977512223
NM_000080.4(CHRNE):c.1291G>C (p.Ala431Pro)	rs121909517
NM_000080.4(CHRNE):c.1383C>G (p.Ala461=)	rs570378547
NM_000080.4(CHRNE):c.1402G>C (p.Val468Leu)	rs139171143
NM_000080.4(CHRNE):c.421C>A (p.Pro141Thr)	rs483353045
NM_000080.4(CHRNE):c.452_454del (p.Glu151del)	rs2151098283
NM_000080.4(CHRNE):c.535A>C (p.Thr179Pro)	rs748624980
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.1433G>A (p.Gly478Glu)	rs781479400
NM_000092.5(COL4A4):c.1505dup (p.Gly503fs)
NM_000092.5(COL4A4):c.1715G>C (p.Gly572Ala)	rs1446915781
NM_000092.5(COL4A4):c.2367A>T (p.Gly789=)	rs56247709
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.4760C>G (p.Pro1587Arg)	rs190148408
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_000094.4(COL7A1):c.1215C>T (p.Pro405=)	rs200882719
NM_000094.4(COL7A1):c.2382C>T (p.Ile794=)	rs1388911281
NM_000094.4(COL7A1):c.2769G>A (p.Gly923=)	rs748086542
NM_000094.4(COL7A1):c.2793C>T (p.Arg931=)	rs142681592
NM_000094.4(COL7A1):c.279C>T (p.Gly93=)	rs745864625
NM_000094.4(COL7A1):c.3039G>T (p.Gln1013His)	rs570498790
NM_000094.4(COL7A1):c.317C>T (p.Ala106Val)	rs767643638
NM_000094.4(COL7A1):c.3211G>A (p.Ala1071Thr)	rs143245957
NM_000094.4(COL7A1):c.3233G>A (p.Arg1078His)	rs748471791
NM_000094.4(COL7A1):c.3939C>T (p.Ala1313=)	rs141825319
NM_000094.4(COL7A1):c.3942dup (p.Asn1315fs)	rs747912732
NM_000094.4(COL7A1):c.4012G>A (p.Gly1338Arg)	rs1156352791
NM_000094.4(COL7A1):c.4408C>T (p.Arg1470Trp)	rs769297158
NM_000094.4(COL7A1):c.5403A>G (p.Lys1801=)	rs1575449774
NM_000094.4(COL7A1):c.5425-6_5425-5del	rs762085901
NM_000094.4(COL7A1):c.6270T>G (p.Pro2090=)	rs2044195363
NM_000094.4(COL7A1):c.7191C>A (p.Pro2397=)	rs34360255
NM_000094.4(COL7A1):c.7191C>T (p.Pro2397=)	rs34360255
NM_000094.4(COL7A1):c.7215C>T (p.Phe2405=)	rs779587550
NM_000094.4(COL7A1):c.7300G>A (p.Gly2434Arg)	rs2043856489
NM_000094.4(COL7A1):c.8094C>A (p.Gly2698=)	rs199936185
NM_000094.4(COL7A1):c.831G>A (p.Pro277=)	rs749004650
NM_000094.4(COL7A1):c.8539C>G (p.Pro2847Ala)	rs140041143
NM_000094.4(COL7A1):c.8569G>A (p.Glu2857Lys)	rs372166543
NM_000098.3(CPT2):c.1041C>T (p.Gly347=)	rs985374504
NM_000098.3(CPT2):c.1046dup (p.Asn349fs)	rs1057517515
NM_000098.3(CPT2):c.1200G>A (p.Gln400=)	rs2100273793
NM_000098.3(CPT2):c.1324dup (p.Thr442fs)	rs1131691330
NM_000098.3(CPT2):c.1381C>T (p.Leu461=)	rs2525590067
NM_000098.3(CPT2):c.1505T>C (p.Ile502Thr)	rs1553169799
NM_000098.3(CPT2):c.1528_1529del (p.Lys510fs)	rs777066875
NM_000098.3(CPT2):c.1725_1726del (p.Asp576fs)	rs1645442171
NM_000098.3(CPT2):c.1767_1777delinsT (p.Ser590fs)	rs1553169975
NM_000098.3(CPT2):c.1767del (p.Ser590fs)	rs1553169973
NM_000098.3(CPT2):c.1773A>T (p.Thr591=)	rs1645442723
NM_000098.3(CPT2):c.1784del (p.Pro595fs)	rs760255368
NM_000098.3(CPT2):c.1929del (p.Ala643_Leu644insTer)	rs1553170029
NM_000098.3(CPT2):c.1932dup (p.Glu645fs)	rs1645445189
NM_000098.3(CPT2):c.213_214del (p.Leu72fs)	rs751253358
NM_000098.3(CPT2):c.341-9A>C	rs759390063
NM_000098.3(CPT2):c.448A>G (p.Thr150Ala)	rs141505320
NM_000098.3(CPT2):c.482G>A (p.Arg161Gln)	rs1051337309
NM_000098.3(CPT2):c.507C>G (p.Gly169=)	rs769316736
NM_000098.3(CPT2):c.595_596del (p.Leu199fs)
NM_000098.3(CPT2):c.638A>G (p.Asp213Gly)	rs74315300
NM_000098.3(CPT2):c.646C>T (p.Gln216Ter)	rs2525587268
NM_000098.3(CPT2):c.670del (p.Thr224fs)	rs762366252
NM_000098.3(CPT2):c.729C>A (p.Leu243=)
NM_000098.3(CPT2):c.834dup (p.Asp279fs)	rs2100272823
NM_000098.3(CPT2):c.852del (p.Glu285fs)	rs1057517729
NM_000101.4(CYBA):c.354C>A (p.Ser118Arg)	rs104894514
NM_000101.4(CYBA):c.472_484del (p.Pro160fs)	rs1272232395
NM_000101.4(CYBA):c.58+4_58+7del	rs771926427
NM_000102.4(CYP17A1):c.1117C>A (p.His373Asn)	rs1423560123
NM_000102.4(CYP17A1):c.1117C>G (p.His373Asp)	rs1423560123
NM_000102.4(CYP17A1):c.1318C>T (p.Arg440Cys)	rs868228603
NM_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs)	rs556794126
NM_000102.4(CYP17A1):c.157TTC[1] (p.Phe54del)	rs121434319
NM_000102.4(CYP17A1):c.973AAG[2] (p.Lys327del)	rs774737304
NM_000103.4(CYP19A1):c.1310G>A (p.Cys437Tyr)	rs78310315
NM_000103.4(CYP19A1):c.367C>T (p.Gln123Ter)
NM_000108.5(DLD):c.1058T>C (p.Ile353Thr)	rs2116271469
NM_000108.5(DLD):c.1178T>C (p.Ile393Thr)	rs121964991
NM_000108.5(DLD):c.118+1G>T	rs1554396908
NM_000108.5(DLD):c.1182C>G (p.Tyr394Ter)	rs757087726
NM_000108.5(DLD):c.1344_1347del (p.Asp448fs)	rs1402761530
NM_000108.5(DLD):c.140T>C (p.Ile47Thr)	rs397514651
NM_000108.5(DLD):c.1464+1G>A	rs2535606416
NM_000108.5(DLD):c.175A>T (p.Lys59Ter)	rs1361667907
NM_000108.5(DLD):c.337+10C>T	rs752671238
NM_000108.5(DLD):c.439-6G>C	rs369208046
NM_000108.5(DLD):c.597A>G (p.Thr199=)	rs768248572
NM_000112.4(SLC26A2):c.1273A>G (p.Asn425Asp)	rs104893920
NM_000112.4(SLC26A2):c.299del (p.Pro100fs)	rs1581230727
NM_000112.4(SLC26A2):c.485_486del (p.Val162fs)	rs763198695
NM_000112.4(SLC26A2):c.819del (p.Leu275fs)	rs750882937
NM_000117.3(EMD):c.545_547del (p.Tyr182_Pro183delinsSer)	rs794729019
NM_000126.4(ETFA):c.351+9G>A	rs2039774067
NM_000126.4(ETFA):c.36G>A (p.Arg12=)	rs1299355915
NM_000126.4(ETFA):c.3G>A (p.Met1Ile)
NM_000126.4(ETFA):c.963+1del	rs746488455
NM_000128.4(F11):c.1028+9T>G	rs376630194
NM_000128.4(F11):c.1075del (p.Ile359fs)	rs786204429
NM_000128.4(F11):c.1254C>T (p.Gly418=)	rs780637390
NM_000128.4(F11):c.1449del (p.Leu483fs)	rs1741165195
NM_000128.4(F11):c.1557G>C (p.Trp519Cys)	rs1334907475
NM_000128.4(F11):c.219G>A (p.Trp73Ter)	rs762013077
NM_000128.4(F11):c.291G>A (p.Gly97=)	rs1740104431
NM_000128.4(F11):c.301_307dup (p.Cys103Ter)	rs1740105027
NM_000128.4(F11):c.569T>C (p.Leu190Pro)
NM_000128.4(F11):c.688T>A (p.Cys230Ser)	rs1004775935
NM_000133.4(F9):c.1328T>C (p.Ile443Thr)	rs137852268
NM_000133.4(F9):c.520+13A>G	rs1603265507
NM_000133.4(F9):c.7C>T (p.Arg3Cys)	rs766259893
NM_000133.4(F9):c.835G>A (p.Ala279Thr)	rs137852247
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs)	rs878853660
NM_000135.4(FANCA):c.1197C>A (p.Cys399Ter)
NM_000135.4(FANCA):c.1226-1G>C	rs1417768931
NM_000135.4(FANCA):c.1290G>A (p.Ala430=)	rs1800332
NM_000135.4(FANCA):c.1292dup (p.Leu432fs)	rs1416639878
NM_000135.4(FANCA):c.1294del (p.Leu432fs)	rs1211579979
NM_000135.4(FANCA):c.1304G>A (p.Arg435His)	rs1060501879
NM_000135.4(FANCA):c.1307A>G (p.Gln436Arg)	rs2040074214
NM_000135.4(FANCA):c.133G>T (p.Glu45Ter)
NM_000135.4(FANCA):c.1470+2T>C	rs2039844134
NM_000135.4(FANCA):c.1475A>T (p.His492Leu)	rs925457555
NM_000135.4(FANCA):c.1607C>G (p.Ser536Ter)	rs769047348
NM_000135.4(FANCA):c.1743C>T (p.Ser581=)	rs2039611416
NM_000135.4(FANCA):c.1758C>T (p.Ala586=)	rs765437064
NM_000135.4(FANCA):c.189+1G>A	rs891323617
NM_000135.4(FANCA):c.1901-3C>A	rs17226526
NM_000135.4(FANCA):c.1999C>G (p.Pro667Ala)	rs147300317
NM_000135.4(FANCA):c.19C>T (p.Pro7Ser)	rs780667753
NM_000135.4(FANCA):c.1A>G (p.Met1Val)	rs772751654
NM_000135.4(FANCA):c.1A>T (p.Met1Leu)	rs772751654
NM_000135.4(FANCA):c.2014+10G>T	rs1567620967
NM_000135.4(FANCA):c.2015-4G>T	rs373954227
NM_000135.4(FANCA):c.2021C>A (p.Ser674Ter)	rs17232973
NM_000135.4(FANC